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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
ATAD3B	83858	broad.mit.edu	37	1	1430871	1430871	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:1430871G>A	uc001afv.3	+	15	1722	c.1621G>A	c.(1621-1623)Gca>Aca	p.A541T	ATAD3B_uc021oeq.1_Intron|ATAD3B_uc001afx.3_Missense_Mutation_p.A495T	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	541							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTAGGCCACGGCATATGCCTC	0.632													A	1430871	G	A	1430871	3	1	1	1	0	0	0	0	1	0	0	0	1074	1203	42	3	1683	3	ATAD3B	1	1430871	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		1430871	247819750	1	1											
TPM3	7170	broad.mit.edu	37	1	154148652	154148652	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:154148652G>A	uc001fec.1	-	2	431	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Missense_Mutation_p.R69C|TPM3_uc001fdz.1_Missense_Mutation_p.R69C|TPM3_uc001fea.1_Missense_Mutation_p.R69C|TPM3_uc001feb.1_Missense_Mutation_p.R69C|TPM3_uc010pej.1_Intron|TPM3_uc001fed.1_Missense_Mutation_p.R69C	NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	105					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GTGGCCAGGCGCTCCTGAGCA	0.527			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								A	154148652	G	A	154148652	3	1	1	1	0	0	0	0	1	0	0	0	16404	1087	38	1	824	1	TPM3	1	154148652	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	152717781	154148652	95101969	2	2											
NR1I3	9970	broad.mit.edu	37	1	161206281	161206281	+	Silent	SNP	C	C	T	rs140012276	byFrequency	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:161206281C>T	uc001fzx.3	-	1	278	c.75G>A	c.(73-75)gcG>gcA	p.A25A	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Silent_p.A25A|NR1I3_uc001fzm.3_Intron|NR1I3_uc001fzn.3_5'UTR|NR1I3_uc001fzf.3_Silent_p.A25A|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Silent_p.A25A|NR1I3_uc001fzq.3_Silent_p.A25A|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Silent_p.A25A|NR1I3_uc001fzw.3_Silent_p.A25A|NR1I3_uc001fzz.3_Silent_p.A25A|NR1I3_uc001fzh.3_Intron|NR1I3_uc001gab.3_Silent_p.A25A|NR1I3_uc001gac.3_Intron|NR1I3_uc001fzp.3_Silent_p.A25A|NR1I3_uc001fzg.3_Intron|NR1I3_uc001gaa.3_Silent_p.A25A|NR1I3_uc001fzj.3_Intron|NR1I3_uc001fzi.3_Intron|NR1I3_uc001fzl.3_Intron|NR1I3_uc001fzk.3_Intron|NR1I3_uc010pkm.2_Intron|NR1I3_uc010pkn.1_Silent_p.A25A	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	25					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.A25V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACAAGTCAGCGCATTAAAGT	0.532													T	161206281	C	T	161206281	2	4	1	1	0	0	0	0	0	0	0	1	10621	755	27	1		1	NR1I3	1	161206281	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	7057629	161206281	88044340	3	3											
AGT	183	broad.mit.edu	37	1	230846235	230846235	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:230846235T>A	uc001hty.4	-	1	870	c.362A>T	c.(361-363)cAc>cTc	p.H121L	AGT_uc009xff.3_Missense_Mutation_p.H93L	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	121					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TAGCTCACTGTGCATGCCATA	0.582													A	230846235	T	A	230846235	3	1	1	1	0	0	0	0	1	0	0	0	399	1696	59	5	1111	5	AGT	1	230846235	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	69639954	230846235	18404386	4	4											
C2orf63	130162	broad.mit.edu	37	2	55439915	55439915	+	Silent	SNP	C	C	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:55439915C>A	uc002ryi.2	-	4	739	c.393G>T	c.(391-393)tcG>tcT	p.S131S	C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Silent_p.S9S	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	131							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			ATTGAATCTTCGAGGAATTAC	0.338													A	55439915	C	A	55439915	2	1	1	1	0	0	0	0	0	0	0	1	2182	871	31	5		5	C2orf63	2	55439915	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		55439915	187759458	5	5											
ALMS1	7840	broad.mit.edu	37	2	73680365	73680365	+	Silent	SNP	A	A	G			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:73680365A>G	uc002sje.1	+	7	6819	c.6708A>G	c.(6706-6708)gaA>gaG	p.E2236E	ALMS1_uc002sjf.1_Silent_p.E2194E|ALMS1_uc002sjg.3_Silent_p.E1624E|ALMS1_uc002sjh.1_Silent_p.E1624E	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2236					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATAAACCAGAATCTGCAGGTT	0.363													G	73680365	A	G	73680365	2	3	1	1	0	0	0	0	0	0	0	1	535	98	4	4		4	ALMS1	2	73680365	Silent	SNP	A	TCGA-02-0003-01A-01D-1490-08	18240450	73680365	169519008	6	6											
PLCL1	5334	broad.mit.edu	37	2	198950756	198950756	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:198950756G>A	uc010fsp.3	+	1	2913	c.2515G>A	c.(2515-2517)Gta>Ata	p.V839I	PLCL1_uc002uuv.4_Missense_Mutation_p.V760I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	839					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.V839I(1)|p.V741I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATGGAGCACGTAACCCTTTT	0.453													A	198950756	G	A	198950756	3	1	1	1	0	0	0	0	1	0	0	0	12039	1145	40	1	2521	1	PLCL1	2	198950756	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	125270391	198950756	44248617	7	7											
SLC11A1	6556	broad.mit.edu	37	2	219255987	219255987	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:219255987G>A	uc002vhv.3	+	9	1361	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	SLC11A1_uc010fvp.1_Missense_Mutation_p.V341M|SLC11A1_uc010fvq.1_Missense_Mutation_p.V274M|SLC11A1_uc010zkc.1_Missense_Mutation_p.V274M|SLC11A1_uc002vhu.1_Missense_Mutation_p.V136M|SLC11A1_uc002vhw.3_Missense_Mutation_p.V223M|SLC11A1_uc010fvr.3_Missense_Mutation_p.V136M	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	341					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACGCCACCGTGGCCGTGGA	0.627													A	219255987	G	A	219255987	3	1	1	1	0	0	0	0	1	0	0	0	14380	1145	40	1	1059	1	SLC11A1	2	219255987	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	20305231	219255987	23943386	8	8											
OBSL1	23363	broad.mit.edu	37	2	220422920	220422920	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:220422920T>C	uc010fwk.3	-	9	3802	c.3488A>G	c.(3487-3489)aAt>aGt	p.N1163S	OBSL1_uc002vmh.1_Missense_Mutation_p.N154S|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.2_Missense_Mutation_p.N1163S	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1163	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGATGACATTGAAGGTGAT	0.657													C	220422920	T	C	220422920	3	2	1	1	0	0	0	0	1	0	0	0	10813	1493	52	4	2273	4	OBSL1	2	220422920	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	1166933	220422920	22776453	9	9											
CLEC3B	7123	broad.mit.edu	37	3	45077083	45077083	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:45077083C>T	uc003cok.4	+	2	372	c.276C>T	c.(274-276)caC>caT	p.H92H		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	92	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACCTTCCACGAGGCCAGCG	0.627													T	45077083	C	T	45077083	2	4	1	1	0	0	0	0	0	0	0	1	3511	535	19	1		1	CLEC3B	3	45077083	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		45077083	152945347	10	10											
NPRL2	10641	broad.mit.edu	37	3	50387203	50387203	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:50387203G>A	uc003daj.1	-	2	635	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	78	Interaction with PDPK1.				negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						AGAGCATTGCGGCTGTACTTC	0.547													A	50387203	G	A	50387203	3	1	1	1	0	0	0	0	1	0	0	0	10597	1116	39	2	946	2	NPRL2	3	50387203	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	5310120	50387203	147635227	11	11											
DZIP1L	199221	broad.mit.edu	37	3	137796433	137796433	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:137796433C>T	uc003erq.3	-	10	1693	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	DZIP1L_uc003err.1_Missense_Mutation_p.A444T	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	444						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CGCCTCAGAGCTGCCAGCACC	0.537													T	137796433	C	T	137796433	3	4	1	1	0	0	0	0	1	0	0	0	4864	797	28	3	1006	3	DZIP1L	3	137796433	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	87409230	137796433	60225997	12	12											
ANAPC4	29945	broad.mit.edu	37	4	25396471	25396471	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr4:25396471G>T	uc003gro.3	+	13	1134	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	ANAPC4_uc003grp.3_Missense_Mutation_p.Q220H|ANAPC4_uc010ieu.1_Intron|ANAPC4_uc010iet.1_Missense_Mutation_p.Q115H	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AGCTTGGCCAGTCTATAGAGT	0.313													T	25396471	G	T	25396471	3	4	1	1	0	0	0	0	1	0	0	0	604	1020	36	5	1055	5	ANAPC4	4	25396471	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		25396471	165757805	13	13											
UGT2B28	54490	broad.mit.edu	37	4	70156391	70156391	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr4:70156391T>C	uc003hej.3	+	4	1174	c.1172T>C	c.(1171-1173)gTa>gCa	p.V391A	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	391					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATCCCTATGGTAGGCATTCCA	0.448													C	70156391	T	C	70156391	3	2	1	1	0	0	0	0	1	0	0	0	16957	1638	57	4	1190	4	UGT2B28	4	70156391	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	44759920	70156391	120997885	14	14											
DNAH5	1767	broad.mit.edu	37	5	13727709	13727709	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:13727709C>T	uc003jfd.2	-	69	11982	c.11940G>A	c.(11938-11940)gaG>gaA	p.E3980E	DNAH5_uc003jfc.2_Silent_p.E148E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3980					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3980K(1)|p.E3979*(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)					GAAGAGGTTCCTCCTCCGGGT	0.413									Kartagener syndrome				T	13727709	C	T	13727709	2	4	1	1	0	0	0	0	0	0	0	1	4604	680	24	3		3	DNAH5	5	13727709	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		13727709	167187551	15	15											
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67589138	G	A	67589138	3	1	1	1	0	0	0	0	1	0	0	0	11918	1233	43	3	1290	3	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	53861429	67589138	113326122	16	16											
MTX3	345778	broad.mit.edu	37	5	79284349	79284349	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:79284349A>T	uc010jag.3	-	4	467	c.440T>A	c.(439-441)cTg>cAg	p.L147Q	MTX3_uc010jah.3_Missense_Mutation_p.L147Q|MTX3_uc003kge.4_Missense_Mutation_p.L86Q|MTX3_uc003kgf.1_5'Flank	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	147					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AATCCTATTCAGTGCTCCCTT	0.463													T	79284349	A	T	79284349	3	4	1	1	0	0	0	0	1	0	0	0	9969	188	7	5	518	5	MTX3	5	79284349	Missense_Mutation	SNP	A	TCGA-02-0003-01A-01D-1490-08	11695211	79284349	101630911	17	17											
HRH2	3274	broad.mit.edu	37	5	175110351	175110351	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:175110351G>A	uc003mdc.4	+	1	759	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	HRH2_uc003mdd.2_Missense_Mutation_p.V39I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	39					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CAATGTGGTCGTCTGTCTGGC	0.582													A	175110351	G	A	175110351	3	1	1	1	0	0	0	0	1	0	0	0	7356	1145	40	1	117	1	HRH2	5	175110351	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	95826002	175110351	5804909	18	18											
KIAA0319	9856	broad.mit.edu	37	6	24556864	24556864	+	Missense_Mutation	SNP	C	C	T	rs137950263		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:24556864C>T	uc011djo.2	-	17	3328	c.2828G>A	c.(2827-2829)cGt>cAt	p.R943H	KIAA0319_uc011djp.2_Missense_Mutation_p.R898H|KIAA0319_uc003neh.1_Missense_Mutation_p.R943H|KIAA0319_uc011djq.1_Missense_Mutation_p.R934H|KIAA0319_uc011djr.1_Missense_Mutation_p.R943H|KIAA0319_uc010jpt.1_Missense_Mutation_p.R354H	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	943					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.R943C(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCAGATATAACGCTGTATAAG	0.488													T	24556864	C	T	24556864	3	4	1	1	0	0	0	0	1	0	0	0	8168	536	19	1	406	1	KIAA0319	6	24556864	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		24556864	146558203	19	19											
SLC39A7	7922	broad.mit.edu	37	6	33170112	33170112	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:33170112T>C	uc003odf.3	+	4	824	c.707T>C	c.(706-708)tTt>tCt	p.F236S	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.F236S|SLC39A7_uc011dqv.2_Missense_Mutation_p.F111S|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	236						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTGGAGAAATTTGTGAGACAT	0.507													C	33170112	T	C	33170112	3	2	1	1	0	0	0	0	1	0	0	0	14623	1841	64	4	721	4	SLC39A7	6	33170112	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	8613248	33170112	137944955	20	20											
EPHA7	2045	broad.mit.edu	37	6	94120845	94120845	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:94120845C>T	uc003poe.3	-	2	447	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	EPHA7_uc003pof.3_Missense_Mutation_p.R69Q|EPHA7_uc011eac.2_Missense_Mutation_p.R69Q|EPHA7_uc003pog.4_Missense_Mutation_p.R69Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	69						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R69Q(2)|p.R69*(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)		CTGGTATGTTCGTATCGGGGT	0.393													T	94120845	C	T	94120845	3	4	1	1	0	0	0	0	1	0	0	0	5172	884	31	2	2850	2	EPHA7	6	94120845	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	60950733	94120845	76994222	21	21											
SHPRH	257218	broad.mit.edu	37	6	146269445	146269445	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:146269445C>T	uc003qlf.3	-	4	1423	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SHPRH_uc003qle.3_Missense_Mutation_p.E342K|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E231K	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	342	Helicase ATP-binding; first part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCAGACCCTCAGATGTAACA	0.308													T	146269445	C	T	146269445	3	4	1	1	0	0	0	0	1	0	0	0	14291	835	29	3	4175	3	SHPRH	6	146269445	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	52148600	146269445	24845622	22	22											
ELMO1	9844	broad.mit.edu	37	7	37251095	37251095	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:37251095G>C	uc022abv.1	-	12	1692	c.982C>G	c.(982-984)Cga>Gga	p.R328G	ELMO1_uc011kbc.2_Missense_Mutation_p.R232G|ELMO1_uc003tfk.2_Missense_Mutation_p.R328G|ELMO1_uc010kxg.2_Missense_Mutation_p.R328G	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	328	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCAATTCTTCGAAGTTCAAAT	0.428													C	37251095	G	C	37251095	3	2	1	1	0	0	0	0	1	0	0	0	5065	1066	37	5	1241	5	ELMO1	7	37251095	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		37251095	121887568	23	23											
EGFR	1956	broad.mit.edu	37	7	55233109	55233109	+	Missense_Mutation	SNP	G	G	A	rs150899403		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:55233109G>A	uc003tqk.3	+	14	2105	c.1859G>A	c.(1858-1860)tGc>tAc	p.C620Y	EGFR_uc003tqi.3_Missense_Mutation_p.C620Y|EGFR_uc003tqj.3_Missense_Mutation_p.C620Y|EGFR_uc022adm.1_Missense_Mutation_p.C620Y|EGFR_uc010kzg.2_Missense_Mutation_p.C575Y|EGFR_uc022adn.1_Missense_Mutation_p.C575Y|EGFR_uc011kco.2_Missense_Mutation_p.C567Y|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	620					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C620Y(2)|p.C620W(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCACCTGTGCCATCCAAAC	0.542		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55233109	G	A	55233109	3	1	1	1	0	0	0	0	1	0	0	0	4967	1319	46	3	1928	3	EGFR	7	55233109	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	17982014	55233109	103905554	24	24											
ZNF680	340252	broad.mit.edu	37	7	64004766	64004766	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:64004766C>T	uc003tta.2	-	1	248	c.75G>A	c.(73-75)gaG>gaA	p.E25E	ZNF680_uc003ttb.2_Silent_p.E25E	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E25D(2)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ATTGCCACTCCTCCAGAGAGA	0.423													T	64004766	C	T	64004766	2	4	1	1	0	0	0	0	0	0	0	1	18084	680	24	3		3	ZNF680	7	64004766	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	8771657	64004766	95133897	25	25											
AUTS2	26053	broad.mit.edu	37	7	70255710	70255710	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:70255710G>A	uc003tvw.4	+	18	4243	c.3508G>A	c.(3508-3510)Gtg>Atg	p.V1170M	AUTS2_uc003tvx.4_Missense_Mutation_p.V1146M|AUTS2_uc011keg.2_Missense_Mutation_p.V622M	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1170	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCTCCACTCCGTGCACCCCGC	0.697													A	70255710	G	A	70255710	3	1	1	1	0	0	0	0	1	0	0	0	1225	1145	40	1	3727	1	AUTS2	7	70255710	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	6250944	70255710	88882953	26	26											
MUC17	140453	broad.mit.edu	37	7	100677039	100677039	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:100677039C>T	uc003uxp.1	+	2	2395	c.2342C>T	c.(2341-2343)tCt>tTt	p.S781F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	781	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					ATCACCACTTCTACTGAAGCC	0.458													T	100677039	C	T	100677039	3	4	1	1	0	0	0	0	1	0	0	0	9974	913	32	3	2352	3	MUC17	7	100677039	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	30421329	100677039	58461624	27	27											
SLC26A3	1811	broad.mit.edu	37	7	107431527	107431527	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:107431527G>A	uc003ver.2	-	4	747	c.536C>T	c.(535-537)gCg>gTg	p.A179V	SLC26A3_uc003ves.2_Missense_Mutation_p.A144V	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	179					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GACTGATGCCGCCGCCGCCAC	0.483													A	107431527	G	A	107431527	3	1	1	1	0	0	0	0	1	0	0	0	14518	1087	38	1	1826	1	SLC26A3	7	107431527	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	6754488	107431527	51707136	28	28											
POTEA	340441	broad.mit.edu	37	8	43147808	43147808	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr8:43147808G>A	uc003xpz.1	+	0	224	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	POTEA_uc003xqa.1_Missense_Mutation_p.V61I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	61										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAGGTATCACGTCCGTCGAGA	0.602													A	43147808	G	A	43147808	3	1	1	1	0	0	0	0	1	0	0	0	12261	1145	40	1	183	1	POTEA	8	43147808	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		43147808	103216214	29	29											
UBR5	51366	broad.mit.edu	37	8	103282370	103282370	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr8:103282370C>A	uc003ykr.2	-	49	7582	c.7127G>T	c.(7126-7128)aGa>aTa	p.R2376I	UBR5_uc003yks.2_Missense_Mutation_p.R2376I|UBR5_uc003ykq.3_5'Flank	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2376					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGAGGCTGGTCTAAAGGGCCT	0.438													A	103282370	C	A	103282370	3	1	1	1	0	0	0	0	1	0	0	0	16902	913	32	5	1312	5	UBR5	8	103282370	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	60134562	103282370	43081652	30	30											
KIAA0020	9933	broad.mit.edu	37	9	2811564	2811564	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr9:2811564G>A	uc003zhp.1	-	14	1528	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	KIAA0020_uc003zhq.1_Missense_Mutation_p.R477C	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	478	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCCCGTCTGCGGACCTCTGTA	0.433													A	2811564	G	A	2811564	3	1	1	1	0	0	0	0	1	0	0	0	8152	1116	39	2	530	2	KIAA0020	9	2811564	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		2811564	138401867	31	31											
KIF27	55582	broad.mit.edu	37	9	86482718	86482718	+	Missense_Mutation	SNP	G	G	A	rs3199677	by1000genomes	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr9:86482718G>A	uc004ana.3	-	12	2959	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	KIF27_uc010mpw.3_Missense_Mutation_p.R873C|KIF27_uc010mpx.3_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	939					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R939C(2)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AATTCTTGGCGTTGGTTCAGA	0.373													A	86482718	G	A	86482718	3	1	1	1	0	0	0	0	1	0	0	0	8296	1145	40	1	1414	1	KIF27	9	86482718	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	83671154	86482718	54730713	32	32											
TACC2	10579	broad.mit.edu	37	10	123810032	123810032	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr10:123810032C>T	uc001lfv.3	+	2	473	c.113C>T	c.(112-114)aCg>aTg	p.T38M	TACC2_uc001lfw.3_Missense_Mutation_p.T38M|TACC2_uc009xzx.3_Missense_Mutation_p.T38M|TACC2_uc010qtv.2_Missense_Mutation_p.T38M	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	38						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.T38M(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGCAGGACACGCCCGGAAGC	0.577													T	123810032	C	T	123810032	3	4	1	1	0	0	0	0	1	0	0	0	15499	536	19	1	119	1	TACC2	10	123810032	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		123810032	11724715	33	33											
JAKMIP3	282973	broad.mit.edu	37	10	133967449	133967449	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr10:133967449C>T	uc001lkx.4	+	17	2169	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	JAKMIP3_uc009yba.1_Silent_p.D160D	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTACCTGGACGAGGAGCTGG	0.632													T	133967449	C	T	133967449	2	4	1	1	0	0	0	0	0	0	0	1	7942	535	19	1		1	JAKMIP3	10	133967449	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	10157417	133967449	1567298	34	34											
NAALAD2	10003	broad.mit.edu	37	11	89868837	89868837	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:89868837C>T	uc001pdf.4	+	2	303	c.194_splice	c.e2+1	p.R65_splice	NAALAD2_uc009yvx.3_Splice_Site_p.R65_splice|NAALAD2_uc009yvy.3_Splice_Site_p.R65_splice|NAALAD2_uc001pdd.2_Splice_Site_p.R65_splice|NAALAD2_uc001pde.3_Splice_Site_p.R65_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	65					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATCATTTCTTCGGTAAGTTTA	0.348													T	89868837	C	T	89868837	3	4	1	1	0	0	0	0	1	0	0	0	10128	898	31	2	199	2	NAALAD2	11	89868837	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		89868837	45137679	35	35											
FAT3	120114	broad.mit.edu	37	11	92570936	92570936	+	Silent	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:92570936G>A	uc001pdj.4	+	15	10349	c.10332G>A	c.(10330-10332)ccG>ccA	p.P3444P	FAT3_uc001pdi.4_5'Flank	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3444	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				ACAACAGCCCGGTGTTTACAC	0.468										TCGA Ovarian(4;0.039)			A	92570936	G	A	92570936	2	1	1	1	0	0	0	0	0	0	0	1	5691	1103	39	2		2	FAT3	11	92570936	Silent	SNP	G	TCGA-02-0003-01A-01D-1490-08	2702099	92570936	42435580	36	36											
PANX3	116337	broad.mit.edu	37	11	124489539	124489539	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:124489539G>A	uc001qah.3	+	3	887	c.887G>A	c.(886-888)cGg>cAg	p.R296Q		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	296					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.R296Q(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CGGCTATGTCGGTGGGACAAA	0.438													A	124489539	G	A	124489539	3	1	1	1	0	0	0	0	1	0	0	0	11422	1116	39	2	901	2	PANX3	11	124489539	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	31918603	124489539	10516977	37	37											
SLC2A14	144195	broad.mit.edu	37	12	7980269	7980269	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:7980269C>T	uc010sgh.2	-	5	821	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	SLC2A14_uc001qtk.3_Missense_Mutation_p.R252Q|SLC2A14_uc001qtl.3_Missense_Mutation_p.R229Q|SLC2A14_uc001qtm.3_Missense_Mutation_p.R229Q|SLC2A14_uc010sgg.2_Missense_Mutation_p.R143Q|SLC2A14_uc001qtn.3_Missense_Mutation_p.R252Q|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	252					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.R252Q(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCCCACAACCGCTGGAGGAC	0.502													T	7980269	C	T	7980269	3	4	1	1	0	0	0	0	1	0	0	0	14543	652	23	2	827	2	SLC2A14	12	7980269	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		7980269	125871626	38	38											
SLC2A3	6515	broad.mit.edu	37	12	8082458	8082458	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:8082458C>T	uc001qtr.3	-	5	945	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	228					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.R228Q(2)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCCCCACAACCGCTGGAGGAC	0.493													T	8082458	C	T	8082458	3	4	1	1	0	0	0	0	1	0	0	0	14545	652	23	2	827	2	SLC2A3	12	8082458	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	102189	8082458	125769437	39	39											
MTERFD3	80298	broad.mit.edu	37	12	107371855	107371855	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:107371855A>G	uc001tme.1	-	1	2457	c.638T>C	c.(637-639)tTa>tCa	p.L213S	MTERFD3_uc001tmf.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmg.1_Missense_Mutation_p.L213S|MTERFD3_uc021rdh.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmh.1_Missense_Mutation_p.L213S	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTTTTGGCTTAACAATTTTAG	0.383													G	107371855	A	G	107371855	3	3	1	1	0	0	0	0	1	0	0	0	9921	372	13	4	523	4	MTERFD3	12	107371855	Missense_Mutation	SNP	A	TCGA-02-0003-01A-01D-1490-08	99289397	107371855	26480040	40	40											
BTBD11	121551	broad.mit.edu	37	12	108012011	108012011	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:108012011G>A	uc001tmk.1	+	9	2829	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.E770K|BTBD11_uc001tml.1_Missense_Mutation_p.E307K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	770						integral to membrane	DNA binding	p.A769T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GATTCTGGCCGAGGGGACTGA	0.607													A	108012011	G	A	108012011	3	1	1	1	0	0	0	0	1	0	0	0	1539	1059	37	2	2451	2	BTBD11	12	108012011	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	640156	108012011	25839884	41	41											
MYH6	4624	broad.mit.edu	37	14	23858709	23858709	+	Silent	SNP	G	G	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:23858709G>T	uc001wjv.3	-	27	3942	c.3871C>A	c.(3871-3873)Cgg>Agg	p.R1291R	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1291					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTAGCTGCCGGGCCAACTCT	0.582													T	23858709	G	T	23858709	2	4	1	1	0	0	0	0	0	0	0	1	10038	1115	39	5		5	MYH6	14	23858709	Silent	SNP	G	TCGA-02-0003-01A-01D-1490-08		23858709	83490831	42	42											
AKAP6	9472	broad.mit.edu	37	14	33290999	33290999	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:33290999A>G	uc001wrq.3	+	12	4150	c.3980A>G	c.(3979-3981)gAc>gGc	p.D1327G		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1327					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCAGTAAAGACTCTTCATTT	0.418													G	33290999	A	G	33290999	3	3	1	1	0	0	0	0	1	0	0	0	455	275	10	4	4026	4	AKAP6	14	33290999	Missense_Mutation	SNP	A	TCGA-02-0003-01A-01D-1490-08	9432290	33290999	74058541	43	43											
EML1	2009	broad.mit.edu	37	14	100363606	100363606	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:100363606G>A	uc001ygr.3	+	7	928	c.859G>A	c.(859-861)Gct>Act	p.A287T	EML1_uc010avt.1_Missense_Mutation_p.A255T|EML1_uc010tww.2_Missense_Mutation_p.A256T|EML1_uc001ygq.3_Missense_Mutation_p.A287T|EML1_uc001ygs.3_Missense_Mutation_p.A268T	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	268						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			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)				GAGGCATTACGCTGGCCACAA	0.542													A	100363606	G	A	100363606	3	1	1	1	0	0	0	0	1	0	0	0	5096	1087	38	1	889	1	EML1	14	100363606	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	67072607	100363606	6985934	44	44											
WDR72	256764	broad.mit.edu	37	15	53998200	53998200	+	Silent	SNP	A	A	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr15:53998200A>T	uc002acj.2	-	9	1068	c.1026T>A	c.(1024-1026)tcT>tcA	p.S342S	WDR72_uc010bfi.1_Silent_p.S342S	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	342								p.F341L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGACTTCTCCAGAGAAAAGTA	0.403													T	53998200	A	T	53998200	2	4	1	1	0	0	0	0	0	0	0	1	17319	175	7	5		5	WDR72	15	53998200	Silent	SNP	A	TCGA-02-0003-01A-01D-1490-08		53998200	48533192	45	45											
GNPTG	84572	broad.mit.edu	37	16	1412529	1412529	+	Silent	SNP	C	C	T	rs146171435	byFrequency	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr16:1412529C>T	uc002clm.3	+	7	670	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.	201						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGCTGATCACCCCCCAGGTAA	0.667													T	1412529	C	T	1412529	2	4	1	1	0	0	0	0	0	0	0	1	6546	610	22	3		3	GNPTG	16	1412529	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		1412529	88942224	46	46											
MAPK8IP3	23162	broad.mit.edu	37	16	1815961	1815961	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr16:1815961C>T	uc010uvl.2	+	21	2567	c.2447_splice	c.e21-1	p.A816_splice	MAPK8IP3_uc002cmk.3_Splice_Site_p.A815_splice|MAPK8IP3_uc002cml.3_Splice_Site_p.A805_splice|MAPK8IP3_uc021tah.1_Splice_Site_p.A809_splice	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	815					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CTCTCCCCAGCGGCCAGCGAC	0.687													T	1815961	C	T	1815961	3	4	1	1	0	0	0	0	1	0	0	0	9286	782	27	1	2542	1	MAPK8IP3	16	1815961	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	403432	1815961	88538792	47	47											
SPATA22	84690	broad.mit.edu	37	17	3366028	3366028	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:3366028G>A	uc002fvm.3	-	3	444	c.206C>T	c.(205-207)gCt>gTt	p.A69V	SPATA22_uc010vrg.2_Missense_Mutation_p.A53V|SPATA22_uc010vrf.2_Missense_Mutation_p.A69V|SPATA22_uc002fvo.3_Missense_Mutation_p.A69V|SPATA22_uc002fvn.3_Missense_Mutation_p.A69V|SPATA22_uc002fvp.3_Missense_Mutation_p.A69V|SPATA22_uc010ckf.3_Missense_Mutation_p.A26V	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	69										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CATTACAGGAGCCAACTCTGG	0.348													A	3366028	G	A	3366028	3	1	1	1	0	0	0	0	1	0	0	0	15007	971	34	3	909	3	SPATA22	17	3366028	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		3366028	77829182	48	48											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	1	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	4211066	7577094	73618116	49	49											
TP53	7157	broad.mit.edu	37	17	7578396	7578396	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:7578396G>T	uc002gim.2	-	4	728	c.534C>A	c.(532-534)caC>caA	p.H178Q	TP53_uc002gig.1_Missense_Mutation_p.H178Q|TP53_uc002gih.3_Missense_Mutation_p.H178Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H46Q|TP53_uc010cnf.1_Missense_Mutation_p.H46Q|TP53_uc002gii.1_Missense_Mutation_p.H46Q|TP53_uc010cni.1_Missense_Mutation_p.H178Q|TP53_uc010cnh.1_Missense_Mutation_p.H178Q|TP53_uc002gij.2_Missense_Mutation_p.H178Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H85Q|TP53_uc002gio.2_Missense_Mutation_p.H46Q|TP53_uc010vug.2_Missense_Mutation_p.H139Q	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.P177L(17)|p.P177_C182delPHHERC(16)|p.P177R(16)|p.H178fs*69(15)|p.H178Q(10)|p.P177P(10)|p.H179Y(8)|p.H178Y(8)|p.0?(8)|p.P177S(8)|p.H178fs*3(7)|p.C176_R181delCPHHER(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178D(5)|p.P177fs*3(4)|p.H178_S183delHHERCS(4)|p.H178H(4)|p.R174fs*24(3)|p.P177H(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.R175_H178>X(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.H178del(2)|p.R174_E180>K(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.H178_H179>QY(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.P177_C182del(1)|p.P177fs*4(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P177I(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(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)		AGCGCTCATGGTGGGGGCAGC	0.642		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)			T	7578396	G	T	7578396	3	4	1	1	0	0	0	0	1	0	0	0	16378	1252	44	5	764	5	TP53	17	7578396	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	1302	7578396	73616814	50	50											
HOXB1	3211	broad.mit.edu	37	17	46607715	46607715	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:46607715C>A	uc002ink.1	-	0	558	c.552G>T	c.(550-552)aaG>aaT	p.K184N	HOXB1_uc021tzf.1_Missense_Mutation_p.K184N	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	184						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.M183I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCTCTTAACCTTCATCCAGT	0.592													A	46607715	C	A	46607715	3	1	1	1	0	0	0	0	1	0	0	0	7299	680	24	5	361	5	HOXB1	17	46607715	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	39029319	46607715	34587495	51	51											
FUT5	2527	broad.mit.edu	37	19	5867712	5867712	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:5867712G>T	uc002mdo.4	-	1	196	c.25C>A	c.(25-27)Cca>Aca	p.P9T	FUT5_uc010duo.3_Missense_Mutation_p.P9T|FUT5_uc021uno.1_Missense_Mutation_p.P9T	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	9					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGCCACTGTGGCTTGGCTGGG	0.607													T	5867712	G	T	5867712	3	4	1	1	0	0	0	0	1	0	0	0	6107	1203	42	5	1103	5	FUT5	19	5867712	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		5867712	53261271	52	52											
ILF3	3609	broad.mit.edu	37	19	10789305	10789305	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:10789305C>T	uc002mpn.3	+	5	893	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc002mpo.3_Silent_p.N192N|ILF3_uc002mpp.3_Silent_p.N13N	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	192	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TATCAGTCAACGACCCCCCGG	0.502													T	10789305	C	T	10789305	2	4	1	1	0	0	0	0	0	0	0	1	7712	535	19	1		1	ILF3	19	10789305	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	4921593	10789305	48339678	53	53											
PODNL1	79883	broad.mit.edu	37	19	14046616	14046616	+	Missense_Mutation	SNP	G	G	A	rs142083249		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:14046616G>A	uc002mxr.3	-	4	707	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PODNL1_uc010xni.2_Missense_Mutation_p.R63W|PODNL1_uc010xnj.2_Missense_Mutation_p.R143W|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	145	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CGGAGGGACCGGGGCAGAAAC	0.657													A	14046616	G	A	14046616	3	1	1	1	0	0	0	0	1	0	0	0	12179	1115	39	2	1121	2	PODNL1	19	14046616	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	3257311	14046616	45082367	54	54											
NLRP5	126206	broad.mit.edu	37	19	56538455	56538455	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:56538455G>A	uc002qmj.3	+	6	856	c.856G>A	c.(856-858)Gga>Aga	p.G286R	NLRP5_uc002qmi.3_Missense_Mutation_p.G267R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	286	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGTTCTGCACGGAAAGTCAGG	0.547													A	56538455	G	A	56538455	3	1	1	1	0	0	0	0	1	0	0	0	10480	1117	39	2	882	2	NLRP5	19	56538455	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	42491839	56538455	2590528	55	55											
ZNF583	147949	broad.mit.edu	37	19	56934399	56934399	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:56934399T>G	uc010ygl.1	+	4	537	c.372T>G	c.(370-372)agT>agG	p.S124R	ZNF583_uc002qnc.2_Missense_Mutation_p.S124R|ZNF583_uc010ygm.1_Missense_Mutation_p.S124R	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ACTGTCAAAGTGAGGACTGGT	0.383													G	56934399	T	G	56934399	3	3	1	1	0	0	0	0	1	0	0	0	18012	1693	59	5	386	5	ZNF583	19	56934399	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	395944	56934399	2194584	56	56											
TSHZ2	128553	broad.mit.edu	37	20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr20:51872260C>T	uc002xwo.3	+	1	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ2_uc021wex.1_Missense_Mutation_p.R752C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	755					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			CGTGTCCAGGCGCTACCTGTT	0.512													T	51872260	C	T	51872260	3	4	1	1	0	0	0	0	1	0	0	0	16621	768	27	1	2269	1	TSHZ2	20	51872260	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		51872260	11153260	57	57											
FAM83F	113828	broad.mit.edu	37	22	40417570	40417570	+	Silent	SNP	C	C	T			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr22:40417570C>T	uc003ayk.1	+	3	1150	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	352								p.A351T(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGGAGGCGGGCGGCAACCCGG	0.687													T	40417570	C	T	40417570	2	4	1	1	0	0	0	0	0	0	0	1	5638	755	27	1		1	FAM83F	22	40417570	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		40417570	10886996	58	58											
PKDREJ	10343	broad.mit.edu	37	22	46656782	46656782	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr22:46656782C>A	uc003bhh.3	-	0	2438	c.2438G>T	c.(2437-2439)aGt>aTt	p.S813I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	813	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTAGACAAACTCATTAGTAT	0.348													A	46656782	C	A	46656782	3	1	1	1	0	0	0	0	1	0	0	0	11970	565	20	5	4327	5	PKDREJ	22	46656782	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	6239212	46656782	4647784	59	59											
KLHL13	90293	broad.mit.edu	37	X	117035907	117035907	+	Missense_Mutation	SNP	T	T	C	rs148032932		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chrX:117035907T>C	uc011mtp.2	-	6	1511	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	KLHL13_uc004eqk.3_Missense_Mutation_p.T406A|KLHL13_uc004eql.3_Missense_Mutation_p.T457A|KLHL13_uc011mtn.2_Missense_Mutation_p.T297A|KLHL13_uc011mto.2_Missense_Mutation_p.T451A|KLHL13_uc011mtq.2_Missense_Mutation_p.T441A|KLHL13_uc004eqm.3_Missense_Mutation_p.T415A|KLHL13_uc022cde.1_Missense_Mutation_p.T441A	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	457					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CATTCTACTGTGGCTGTTAAA	0.323													C	117035907	T	C	117035907	3	2	1	1	0	0	0	0	1	0	0	0	8369	1696	59	4	606	4	KLHL13	23	117035907	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08		117035907	38234653	60	60											
CYR61	3491	broad.mit.edu	37	1	86047880	86047881	+	In_Frame_Ins	INS	-	-	TGG			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:86047880_86047881insTGG	uc001dle.3	+	2	771_772	c.547_548insTGG	c.(547-549)ctg>cTGGtg	p.183_184insV	CYR61_uc021opf.1_In_Frame_Ins_p.116_117insV	NM_001554	NP_001545	O00622	CYR61_HUMAN	Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA.	183					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TGGCAAGGAGCTGGGATTCGAT	0.559											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TGG	86047881	-	TGG	86047880	7	5	2	1	0	1	1	0	0	0	0	0	4199	796	28	0	557	0	CYR61	1	86047880	In_Frame_Ins	INS	-	TCGA-02-0033-01A-01D-1490-08		86047880	163202741	1	61											
NBPF10	400818	broad.mit.edu	37	1	144825409	144825409	+	Missense_Mutation	SNP	G	G	A	rs558823		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:144825409G>A	uc009wig.1	+	17	2323	c.2129G>A	c.(2128-2130)gGt>gAt	p.G710D	NBPF10_uc010oxo.1_Missense_Mutation_p.G637D|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.G527D|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.G513D|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.G372D	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	712										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)		GACTCACTGGGTAGATGGTAT	0.493													A	144825409	G	A	144825409	3	1	2	1	0	0	0	0	1	0	0	0	10193	1261	44	3		3	NBPF10	1	144825409	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	58777529	144825409	104425212	2	62											
PIGR	5284	broad.mit.edu	37	1	207110686	207110686	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:207110686C>T	uc001hez.3	-	3	983	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PIGR_uc009xbz.3_Missense_Mutation_p.A267T	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	267	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAAATTTGGCCACGTTTGCC	0.592													T	207110686	C	T	207110686	3	4	2	1	0	0	0	0	1	0	0	0	11897	739	26	3	1527	3	PIGR	1	207110686	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	62285277	207110686	42139935	3	63											
LIN9	286826	broad.mit.edu	37	1	226426780	226426780	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:226426780G>A	uc001hqa.2	-	11	1495	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	LIN9_uc001hqb.2_Silent_p.P360P|LIN9_uc001hqc.3_Silent_p.P327P|LIN9_uc009xel.1_Silent_p.P360P	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	379					cell cycle|DNA replication	nucleoplasm		p.P395S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CAATGCTGATGGGCATGGAAT	0.343													A	226426780	G	A	226426780	2	1	2	1	0	0	0	0	0	0	0	1	8813	1335	47	3		3	LIN9	1	226426780	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08	19316094	226426780	22823841	4	64											
FAM126B	285172	broad.mit.edu	37	2	201857004	201857004	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr2:201857004C>T	uc002uws.4	-	10	1019	c.831_splice	c.e10+1	p.L277_splice	FAM126B_uc002uwu.3_Splice_Site_p.L195_splice|FAM126B_uc002uwv.3_Splice_Site_p.L277_splice	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	277						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AATAACTTACCAATAGTGGTT	0.333													T	201857004	C	T	201857004	2	4	2	1	0	0	0	0	0	0	0	1	5430	608	21	3		3	FAM126B	2	201857004	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08		201857004	41342369	5	65											
IRS1	3667	broad.mit.edu	37	2	227662172	227662172	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr2:227662172G>A	uc021vxn.1	-	0	1283	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	IRS1_uc002voh.4_Missense_Mutation_p.S428L	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	428	Ser-rich.				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.S428L(2)		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)		ATACTCATCCGAGGAGATGAA	0.617											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227662172	G	A	227662172	3	1	2	1	0	0	0	0	1	0	0	0	7840	1059	37	2	2449	2	IRS1	2	227662172	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	25805168	227662172	15537201	6	66											
FLNB	2317	broad.mit.edu	37	3	58140654	58140654	+	Silent	SNP	T	T	C			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:58140654T>C	uc003djj.2	+	40	6937	c.6772_splice	c.e40+1	p.G2258_splice	FLNB_uc010hne.2_Splice_Site_p.G2289_splice|FLNB_uc003djk.2_Splice_Site_p.G2247_splice|FLNB_uc010hnf.2_Splice_Site_p.G2234_splice|FLNB_uc003djl.2_Splice_Site_p.G2078_splice|FLNB_uc003djm.2_Splice_Site_p.G2065_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2258	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.G2258fs*36(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCAAGAGCCTGGTATGTATT	0.453													C	58140654	T	C	58140654	2	2	2	1	0	0	0	0	0	0	0	1	5934	1594	55	4		4	FLNB	3	58140654	Silent	SNP	T	TCGA-02-0033-01A-01D-1490-08		58140654	139881776	7	67											
HLTF	6596	broad.mit.edu	37	3	148804115	148804115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:148804115C>T	uc003ewq.1	-	0	227	c.9G>A	c.(7-9)tgG>tgA	p.W3*	HLTF_uc003ewr.1_Nonsense_Mutation_p.W3*|HLTF_uc003ews.1_Nonsense_Mutation_p.W3*|HLTF_uc010hve.1_Nonsense_Mutation_p.W3*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	3					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTTGAACATCCAGGACATGG	0.652													T	148804115	C	T	148804115	4	4	2	1	0	0	0	0	0	1	0	0	7215	856	30	3	3120	3	HLTF	3	148804115	Nonsense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	90663461	148804115	49218315	8	68											
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:178936082G>A	uc003fjk.3	+	9	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(1231)|p.E542Q(18)|p.E542V(8)|p.(542_545)E>K(4)|p.E542G(2)|p.E542A(2)|p.S541T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936082	G	A	178936082	3	1	2	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1658	3	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	30131967	178936082	19086348	9	69											
LARP1B	55132	broad.mit.edu	37	4	129003366	129003366	+	Silent	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr4:129003366A>G	uc003iga.3	+	4	395	c.264A>G	c.(262-264)tcA>tcG	p.S88S	LARP1B_uc003ifw.1_Intron|LARP1B_uc003ifx.3_Silent_p.S88S|LARP1B_uc003ify.3_Silent_p.S88S|LARP1B_uc003ifz.1_Silent_p.S88S	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	88							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTGTAAGATCAGAGAGTCAAG	0.373													G	129003366	A	G	129003366	2	3	2	1	0	0	0	0	0	0	0	1	8629	175	7	4		4	LARP1B	4	129003366	Silent	SNP	A	TCGA-02-0033-01A-01D-1490-08		129003366	62150910	10	70											
PCDHAC2	56147	broad.mit.edu	37	5	140167909	140167909	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr5:140167909G>A	uc003lhb.2	+	0	2034	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A678A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	687	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A678A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAAAGGCGTCTTCGCGGG	0.662													A	140167909	G	A	140167909	2	1	2	1	0	0	0	0	0	0	0	1	11533	1132	40	1		1	PCDHAC2	5	140167909	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08		140167909	40747351	11	71											
HRH2	3274	broad.mit.edu	37	5	175110363	175110363	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr5:175110363G>A	uc003mdc.4	+	1	771	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	HRH2_uc003mdd.2_Missense_Mutation_p.V43M	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	43					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTGTCTGGCCGTGGGCTTGAA	0.587													A	175110363	G	A	175110363	3	1	2	1	0	0	0	0	1	0	0	0	7356	1145	40	1	129	1	HRH2	5	175110363	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	34942454	175110363	5804897	12	72											
SEMA3C	10512	broad.mit.edu	37	7	80546078	80546078	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr7:80546078C>A	uc011kgw.2	-	1	153	c.74G>T	c.(73-75)tGc>tTc	p.C25F	SEMA3C_uc003uhj.3_Missense_Mutation_p.C7F|SEMA3C_uc011kgx.1_5'UTR	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	7					immune response|response to drug	membrane	receptor activity	p.P25H(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACCAACACGCAAATTGTCCG	0.353													A	80546078	C	A	80546078	3	1	2	1	0	0	0	0	1	0	0	0	14026	710	25	5	2303	5	SEMA3C	7	80546078	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		80546078	78592585	13	73											
PDIA4	9601	broad.mit.edu	37	7	148703125	148703125	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr7:148703125G>A	uc003wff.2	-	7	1434	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	384					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGTCCTTGATGGCCGAGTCCT	0.592											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	148703125	G	A	148703125	2	1	2	1	0	0	0	0	0	0	0	1	11670	1335	47	3		3	PDIA4	7	148703125	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08	68157047	148703125	10435538	14	74											
ZDHHC2	51201	broad.mit.edu	37	8	17072848	17072848	+	Silent	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr8:17072848A>G	uc003wxe.3	+	10	1450	c.1053A>G	c.(1051-1053)aaA>aaG	p.K351K		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	351						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ACCCAGGAAAATGCAAAGCTG	0.403													G	17072848	A	G	17072848	2	3	2	1	0	0	0	0	0	0	0	1	17607	98	4	4		4	ZDHHC2	8	17072848	Silent	SNP	A	TCGA-02-0033-01A-01D-1490-08		17072848	129291174	15	75											
FBXO16	157574	broad.mit.edu	37	8	28321322	28321322	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr8:28321322G>T	uc003xgu.3	-	3	247	c.149C>A	c.(148-150)aCa>aAa	p.T50K	ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Missense_Mutation_p.T37K	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	Homo sapiens F-box protein 16 (FBXO16), mRNA.	50										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TTGAGAGTCTGTCCATTTGTC	0.428													T	28321322	G	T	28321322	3	4	2	1	0	0	0	0	1	0	0	0	5729	1377	48	5	753	5	FBXO16	8	28321322	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	11248474	28321322	118042700	16	76											
KIAA0020	9933	broad.mit.edu	37	9	2829854	2829854	+	Missense_Mutation	SNP	C	C	T	rs62534389		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:2829854C>T	uc003zhp.1	-	7	868	c.772G>A	c.(772-774)Gca>Aca	p.A258T	KIAA0020_uc003zhq.1_Missense_Mutation_p.A257T	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	258	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCATTGTATGCGTACTCCACG	0.458													T	2829854	C	T	2829854	3	4	2	1	0	0	0	0	1	0	0	0	8152	768	27	1	1218	1	KIAA0020	9	2829854	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		2829854	138383577	17	77											
FAM75C1	441452	broad.mit.edu	37	9	90537820	90537820	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:90537820G>A	uc010mqi.3	+	3	3027	c.2998G>A	c.(2998-3000)Gtc>Atc	p.V1000I	FAM75C1_uc004apq.4_Missense_Mutation_p.V983I|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GAATGAAGGCGTCCAGCTACT	0.408													A	90537820	G	A	90537820	3	1	2	1	0	0	0	0	1	0	0	0	5623	1145	40	1	3012	1	FAM75C1	9	90537820	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	87707966	90537820	50675611	18	78											
EGFL7	51162	broad.mit.edu	37	9	139564727	139564727	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:139564727C>T	uc004cid.3	+	6	1427	c.516C>T	c.(514-516)gaC>gaT	p.D172D	EGFL7_uc010nbp.3_Silent_p.D172D|EGFL7_uc004cie.3_Silent_p.D172D|EGFL7_uc004cif.3_Silent_p.D172D|EGFL7_uc004cih.3_Silent_p.D172D|MIR126_uc022bps.1_5'Flank	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN	Homo sapiens EGF-like-domain, multiple 7 (EGFL7), transcript variant 2, mRNA.	172	EGF-like 2; calcium-binding (Potential).				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGTCTGCAGACGGTACACTCT	0.677													T	139564727	C	T	139564727	2	4	2	1	0	0	0	0	0	0	0	1	4964	535	19	1		1	EGFL7	9	139564727	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08	49026907	139564727	1648704	19	79											
ADARB2	105	broad.mit.edu	37	10	1405297	1405297	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr10:1405297C>T	uc009xhq.3	-	2	1329	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	335	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCTGCAGTGCGGCCTGCGCG	0.746													T	1405297	C	T	1405297	3	4	2	1	0	0	0	0	1	0	0	0	283	768	27	1	1248	1	ADARB2	10	1405297	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		1405297	134129450	20	80											
FGFR2	2263	broad.mit.edu	37	10	123298220	123298220	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr10:123298220G>T	uc021pzz.1	-	5	1281	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	FGFR2_uc021pzv.1_Missense_Mutation_p.Q212K|FGFR2_uc021pzw.1_Missense_Mutation_p.Q97K|FGFR2_uc021pzx.1_Missense_Mutation_p.Q123K|FGFR2_uc021pzy.1_Missense_Mutation_p.Q212K|FGFR2_uc010qtl.2_Missense_Mutation_p.Q212K|FGFR2_uc010qtm.2_Missense_Mutation_p.Q97K|FGFR2_uc021qaa.1_Missense_Mutation_p.Q212K|FGFR2_uc021qab.1_Missense_Mutation_p.Q123K|FGFR2_uc021qac.1_Missense_Mutation_p.Q142K|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.Q231K|FGFR2_uc010qto.2_Missense_Mutation_p.Q116K|FGFR2_uc001lfo.1_Missense_Mutation_p.Q231K|FGFR2_uc010qtp.2_Missense_Mutation_p.Q231K|FGFR2_uc010qtq.2_Missense_Mutation_p.Q231K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	212	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.Q212K(2)|p.N211I(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTCCAGTGCTGGTTTCGTACC	0.418		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				T	123298220	G	T	123298220	3	4	2	1	0	0	0	0	1	0	0	0	5866	1357	47	5	2139	5	FGFR2	10	123298220	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	121892923	123298220	12236527	21	81											
SLC22A9	114571	broad.mit.edu	37	11	63141216	63141216	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr11:63141216C>T	uc001nww.3	+	2	875	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	203					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGCTCACTACGCTTCTTGTC	0.458													T	63141216	C	T	63141216	3	4	2	1	0	0	0	0	1	0	0	0	14461	536	19	1	617	1	SLC22A9	11	63141216	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		63141216	71865300	22	82											
TSKU	25987	broad.mit.edu	37	11	76506917	76506917	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr11:76506917T>G	uc021qno.1	+	0	257	c.257T>G	c.(256-258)tTg>tGg	p.L86W	TSKU_uc001oxt.3_Missense_Mutation_p.L86W	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	86						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TACACGACGTTGGCTGGCCTG	0.632													G	76506917	T	G	76506917	3	3	2	1	0	0	0	0	1	0	0	0	16624	1821	63	5	259	5	TSKU	11	76506917	Missense_Mutation	SNP	T	TCGA-02-0033-01A-01D-1490-08	13365701	76506917	58499599	23	83											
GPR19	2842	broad.mit.edu	37	12	12814147	12814155	+	In_Frame_Del	DEL	ATTTGGTGG	ATTTGGTGG	-	rs61733942		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:12814147_12814155delATTTGGTGG	uc001rar.3	-	1	1421_1429	c.1228_1236delCCACCAAAT	c.(1228-1236)ccaccaaatdel	p.PPN410del	GPR19_uc001raq.2_In_Frame_Del_p.PPN410del|GPR19_uc021qvj.1_In_Frame_Del_p.PPN410del	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	410						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AGACAAAAGTATTTGGTGGATTTGAGTTA	0.34													-	12814155	ATTTGGTGG	-	12814147	7	5	2	1	0	1	0	1	0	0	0	0	6679	446	16	0	15	0	GPR19	12	12814147	In_Frame_Del	DEL	ATTTGGTGG	TCGA-02-0033-01A-01D-1490-08		12814147	121037748	24	84											
CDKN1B	1027	broad.mit.edu	37	12	12871093	12871093	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:12871093A>G	uc001rat.2	+	0	792	c.320A>G	c.(319-321)cAg>cGg	p.Q107R		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	107					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAGGAGAGCCAGGATGTCAGC	0.642													G	12871093	A	G	12871093	3	3	2	1	0	0	0	0	1	0	0	0	3159	188	7	4	322	4	CDKN1B	12	12871093	Missense_Mutation	SNP	A	TCGA-02-0033-01A-01D-1490-08	56946	12871093	120980802	25	85											
ITGA7	3679	broad.mit.edu	37	12	56078847	56078847	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:56078847C>T	uc001shh.3	-	24	3641	c.3421G>A	c.(3421-3423)Gcc>Acc	p.A1141T	ITGA7_uc001shg.3_Missense_Mutation_p.A1137T|ITGA7_uc010sps.2_Missense_Mutation_p.A1044T|ITGA7_uc001shf.3_3'UTR|ITGA7_uc009znw.3_Missense_Mutation_p.A384T|ITGA7_uc009znx.3_Missense_Mutation_p.A1018T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1181					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.A1141T(1)|p.A1137T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGAACCTAGGCGGTGCCTGGC	0.697													T	56078847	C	T	56078847	3	4	2	1	0	0	0	0	1	0	0	0	7881	768	27	1	8	1	ITGA7	12	56078847	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	43207754	56078847	77773048	26	86											
ANKRD52	283373	broad.mit.edu	37	12	56639298	56639298	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:56639298G>A	uc001skm.4	-	20	2357	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	756							protein binding	p.T756M(2)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGAATGGGCGTGCGGCCCTT	0.627													A	56639298	G	A	56639298	3	1	2	1	0	0	0	0	1	0	0	0	678	1145	40	1	995	1	ANKRD52	12	56639298	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	560451	56639298	77212597	27	87											
ACADS	35	broad.mit.edu	37	12	121176680	121176680	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:121176680G>A	uc001tza.4	+	7	1109	c.991G>A	c.(991-993)Gct>Act	p.A331T	ACADS_uc010szl.1_Missense_Mutation_p.A327T	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	331						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(2)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GACCTGGCGCGCTGCCATGCT	0.637													A	121176680	G	A	121176680	3	1	2	1	0	0	0	0	1	0	0	0	114	1087	38	1	1021	1	ACADS	12	121176680	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	64537382	121176680	12675215	28	88											
WDR66	144406	broad.mit.edu	37	12	122437781	122437781	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:122437781G>A	uc009zxk.3	+	19	3325	c.3166G>A	c.(3166-3168)Ggt>Agt	p.G1056S		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1056							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGGTGCTCGGTTATACCAA	0.448													A	122437781	G	A	122437781	3	1	2	1	0	0	0	0	1	0	0	0	17314	1116	39	2	3299	2	WDR66	12	122437781	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	1261101	122437781	11414114	29	89											
TNFSF11	8600	broad.mit.edu	37	13	43180986	43180986	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr13:43180986C>T	uc001uyu.2	+	4	1035	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	TNFSF11_uc001uyt.2_Missense_Mutation_p.P223S	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	296					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		GGTCTCCAACCCCTCCTTACT	0.418													T	43180986	C	T	43180986	3	4	2	1	0	0	0	0	1	0	0	0	16299	623	22	3	904	3	TNFSF11	13	43180986	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		43180986	71988892	30	90											
RB1	5925	broad.mit.edu	37	13	49033967	49033967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr13:49033967C>T	uc001vcb.3	+	19	2270	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	702	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.Q702*(4)|p.Q702K(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCATTTGGACCAAGTAAGAAA	0.398		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	49033967	C	T	49033967	4	4	2	1	0	0	0	0	0	1	0	0	13098	595	21	3	2182	3	RB1	13	49033967	Nonsense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	5852981	49033967	66135911	31	91											
HCN4	10021	broad.mit.edu	37	15	73614906	73614906	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr15:73614906C>T	uc002avp.3	-	7	4522	c.3528G>A	c.(3526-3528)ggG>ggA	p.G1176G		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1176					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGGGGCCCCCCAGAAGAGG	0.627													T	73614906	C	T	73614906	2	4	2	1	0	0	0	0	0	0	0	1	6999	610	22	3		3	HCN4	15	73614906	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08		73614906	28916486	32	92											
ACSM5	54988	broad.mit.edu	37	16	20439127	20439127	+	Silent	SNP	G	G	A	rs12922063		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:20439127G>A	uc002dhe.3	+	6	1086	c.939G>A	c.(937-939)ccG>ccA	p.P313P		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	313					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAAATTCCCGATAACCACCC	0.473													A	20439127	G	A	20439127	2	1	2	1	0	0	0	0	0	0	0	1	187	1045	37	2		2	ACSM5	16	20439127	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08		20439127	69915626	33	93											
ITGAD	3681	broad.mit.edu	37	16	31409190	31409190	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:31409190G>A	uc010cap.1	+	4	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S	ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	129					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						TGCTGGGCTCGCGCTGGGAGA	0.642													A	31409190	G	A	31409190	2	1	2	1	0	0	0	0	0	0	0	1	7884	1074	38	1		1	ITGAD	16	31409190	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08	10970063	31409190	58945563	34	94											
CETP	1071	broad.mit.edu	37	16	57007243	57007243	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:57007243G>A	uc002eki.2	+	9	808	c.751_splice	c.e9-1	p.G251_splice	CETP_uc002ekj.2_Intron	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	251					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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTTCCTCCAGGGTCATTTCAT	0.597													A	57007243	G	A	57007243	3	1	2	1	0	0	0	0	1	0	0	0	3277	1246	43	3	785	3	CETP	16	57007243	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	25598053	57007243	33347510	35	95											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	2	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		7577538	73617672	36	96											
NF1	4763	broad.mit.edu	37	17	29586049	29586049	+	Splice_Site	SNP	G	G	A	rs149784315	by1000genomes	TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:29586049G>A	uc002hgg.3	+	33	4716	c.4333_splice	c.e33-1	p.I1445_splice	NF1_uc002hgh.3_Splice_Site_p.I1424_splice|NF1_uc002hgi.1_Splice_Site_p.I457_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1445	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTATTGTGTAGATACTTCAGA	0.303			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29586049	G	A	29586049	5	1	2	1	0	0	0	0	0	0	1	0	10356	956	33	3	4523	3	NF1	17	29586049	Splice_Site	SNP	G	TCGA-02-0033-01A-01D-1490-08	22008511	29586049	51609161	37	97											
BZRAP1	9256	broad.mit.edu	37	17	56382781	56382781	+	Silent	SNP	C	C	A	rs149705380	byFrequency	TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:56382781C>A	uc002ivx.4	-	28	6271	c.5400G>T	c.(5398-5400)gtG>gtT	p.V1800V	BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_Silent_p.V32V|BZRAP1_uc010dcs.3_Silent_p.V1740V|BZRAP1_uc010wnt.2_Silent_p.V1791V	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1800	SH3 3.					mitochondrion	benzodiazepine receptor binding			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)					TGCCCCCAAACACAGTAATGA	0.587													A	56382781	C	A	56382781	2	1	2	1	0	0	0	0	0	0	0	1	1577	465	17	5		5	BZRAP1	17	56382781	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08	26796732	56382781	24812429	38	98											
ITGB4	3691	broad.mit.edu	37	17	73729694	73729694	+	Silent	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:73729694C>T	uc002jpg.3	+	12	1765	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y	ITGB4_uc002jph.3_Silent_p.Y526Y|ITGB4_uc010dgo.3_Silent_p.Y526Y|ITGB4_uc002jpi.4_Silent_p.Y526Y|ITGB4_uc010dgp.1_Silent_p.Y526Y|ITGB4_uc002jpj.3_Silent_p.Y526Y|ITGB4_uc010wsh.1_Silent_p.Y81Y	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	526	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGTGTGCTACGGCGAAGGCC	0.642													T	73729694	C	T	73729694	2	4	2	1	0	0	0	0	0	0	0	1	7897	547	19	1		1	ITGB4	17	73729694	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08	17346913	73729694	7465516	39	99											
PEX11G	92960	broad.mit.edu	37	19	7542216	7542217	+	Frame_Shift_Ins	INS	-	-	C			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:7542216_7542217insC	uc002mgk.1	-	4	606_607	c.597_598insG	c.(595-600)ctgcccfs	p.L199fs	PEX11G_uc002mgl.1_Frame_Shift_Ins_p.L129fs	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), mRNA.	199						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						ACGCCCCGGGGCAGCCAGTGCA	0.713													C	7542217	-	C	7542216	7	5	2	1	0	1	1	0	0	0	0	0	11739	1203	42	0	131	0	PEX11G	19	7542216	Frame_Shift_Ins	INS	-	TCGA-02-0033-01A-01D-1490-08		7542216	51586767	40	100											
ZNF99	7652	broad.mit.edu	37	19	22940645	22940645	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:22940645A>T	uc021urt.1	-	3	2221	c.2066T>A	c.(2065-2067)tTc>tAc	p.F689Y		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.K689E(3)		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)				AAGGGCTGAGAAATGGTTAAA	0.368													T	22940645	A	T	22940645	3	4	2	1	0	0	0	0	1	0	0	0	18201	246	9	5	1331	5	ZNF99	19	22940645	Missense_Mutation	SNP	A	TCGA-02-0033-01A-01D-1490-08	15398429	22940645	36188338	41	101											
KIAA0355	9710	broad.mit.edu	37	19	34819037	34819037	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:34819037A>G	uc002nvd.4	+	5	1944	c.1085A>G	c.(1084-1086)gAc>gGc	p.D362G		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	362										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCGGCCGCCGACAATCTGAAA	0.512													G	34819037	A	G	34819037	3	3	2	1	0	0	0	0	1	0	0	0	8170	275	10	4	1103	4	KIAA0355	19	34819037	Missense_Mutation	SNP	A	TCGA-02-0033-01A-01D-1490-08	11878392	34819037	24309946	42	102											
DPF1	8193	broad.mit.edu	37	19	38713080	38713080	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:38713080G>A	uc021uty.1	-	2	323	c.296C>T	c.(295-297)aCg>aTg	p.T99M	DPF1_uc002ohm.3_Missense_Mutation_p.T99M|DPF1_uc002ohl.3_Missense_Mutation_p.T99M|DPF1_uc002ohn.3_Missense_Mutation_p.T17M|DPF1_uc010xtw.1_Missense_Mutation_p.T73M	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	99					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCGGGGTACGTGTAAATCTG	0.697													A	38713080	G	A	38713080	3	1	2	1	0	0	0	0	1	0	0	0	4716	1145	40	1	1018	1	DPF1	19	38713080	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	3894043	38713080	20415903	43	103											
TAF4	6874	broad.mit.edu	37	20	60581775	60581775	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr20:60581775C>T	uc002ybs.3	-	6	2014	c.2014G>A	c.(2014-2016)Gcg>Acg	p.A672T		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	672	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGAAGGCCGCGGAGTCGGGG	0.662													T	60581775	C	T	60581775	3	4	2	1	0	0	0	0	1	0	0	0	15523	768	27	1	1279	1	TAF4	20	60581775	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		60581775	2443745	44	104											
KRTAP6-3	337968	broad.mit.edu	37	21	31964779	31964779	+	Silent	SNP	C	C	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr21:31964779C>A	uc002yom.3	+	0	21	c.15C>A	c.(13-15)acC>acA	p.T5T	KRTAP22-2_uc021wih.1_5'Flank	NM_181605	NP_853636			Homo sapiens keratin associated protein 6-3 (KRTAP6-3), mRNA.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						CCTCAACAACCAACACCATGT	0.522													A	31964779	C	A	31964779	2	1	2	1	0	0	0	0	0	0	0	1	8571	581	21	5		5	KRTAP6-3	21	31964779	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08		31964779	16165116	45	105											
ZNF280C	55609	broad.mit.edu	37	X	129370452	129370452	+	Silent	SNP	G	G	A			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chrX:129370452G>A	uc004evm.3	-	6	858	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	ZNF280C_uc010nrf.2_Silent_p.L219L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	219	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCTTTTGACAGCATAACTTGG	0.328													A	129370452	G	A	129370452	2	1	2	1	0	0	0	0	0	0	0	1	17813	962	34	3		3	ZNF280C	23	129370452	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08		129370452	25900108	46	106											
VPS13D	55187	broad.mit.edu	37	1	12418559	12418559	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:12418559C>T	uc001atv.3	+	49	10184	c.10043C>T	c.(10042-10044)cCg>cTg	p.P3348L	VPS13D_uc001atw.3_Missense_Mutation_p.P3323L|VPS13D_uc001atx.3_Missense_Mutation_p.P2535L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3347					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGGCATGCCGGGCTGGTGT	0.512													T	12418559	C	T	12418559	3	4	3	1	0	0	0	0	1	0	0	0	17189	652	23	2	10237	2	VPS13D	1	12418559	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		12418559	236832062	1	107											
RPL11	6135	broad.mit.edu	37	1	24018320	24018320	+	Splice_Site	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:24018320G>C	uc001bhk.3	+	1	51	c.6_splice	c.e1+1	p.A2_splice	RPL11_uc001bhl.3_Splice_Site_p.A2_splice	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	2					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATCATGGCGGTGAGTAGCTG	0.607											OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	24018320	G	C	24018320	5	2	3	1	0	0	0	0	0	0	1	0	13557	1275	44	5	9	5	RPL11	1	24018320	Splice_Site	SNP	G	TCGA-02-0047-01A-01D-1490-08	11599761	24018320	225232301	2	108											
LEPR	3953	broad.mit.edu	37	1	66083830	66083830	+	Splice_Site	SNP	G	G	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:66083830G>T	uc001dci.3	+	16	2784	c.2395_splice	c.e16+1	p.D799_splice	LEPR_uc001dcg.3_Splice_Site_p.D799_splice|LEPR_uc001dch.3_Splice_Site_p.D799_splice|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Splice_Site_p.D799_splice|LEPR_uc001dcj.3_Splice_Site_p.D799_splice|LEPR_uc001dck.3_Splice_Site_p.D799_splice	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	799	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATATCCATGGTAAGTTTACT	0.259													T	66083830	G	T	66083830	5	4	3	1	0	0	0	0	0	0	1	0	8728	1275	44	5	2450	5	LEPR	1	66083830	Splice_Site	SNP	G	TCGA-02-0047-01A-01D-1490-08	42065510	66083830	183166791	3	109											
RPL5	6125	broad.mit.edu	37	1	93299218	93299218	+	Splice_Site	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:93299218G>C	uc001doz.3	+	3	267	c.189_splice	c.e3+1	p.Q63_splice	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Splice_Site|RPL5_uc001dpb.3_Splice_Site_p.Q13_splice|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	63					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CATTTGTCAGGTAAGTTGTAT	0.393													C	93299218	G	C	93299218	5	2	3	1	0	0	0	0	0	0	1	0	13597	1275	44	5	200	5	RPL5	1	93299218	Splice_Site	SNP	G	TCGA-02-0047-01A-01D-1490-08	27215388	93299218	155951403	4	110											
CD101	9398	broad.mit.edu	37	1	117552817	117552817	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:117552817A>T	uc010oxb.1	+	1	447	c.389A>T	c.(388-390)tAc>tTc	p.Y130F	CD101_uc009whd.3_Missense_Mutation_p.Y130F|CD101_uc010oxc.1_Missense_Mutation_p.Y130F|CD101_uc010oxd.1_Missense_Mutation_p.Y130F	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	130	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATGAGAAATACTATGGAAGT	0.463													T	117552817	A	T	117552817	3	4	3	1	0	0	0	0	1	0	0	0	2962	391	14	5	395	5	CD101	1	117552817	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08	24253599	117552817	131697804	5	111											
NBPF10	400818	broad.mit.edu	37	1	144816536	144816536	+	Silent	SNP	T	T	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:144816536T>G	uc009wig.1	+	11	1631	c.1437T>G	c.(1435-1437)acT>acG	p.T479T	NBPF10_uc010oxo.1_Silent_p.T481T|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Silent_p.T210T|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Silent_p.T141T	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	481										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)		GTGCCATCACTTATTCAAATA	0.463													G	144816536	T	G	144816536	2	3	3	1	0	0	0	0	0	0	0	1	10193	1596	56	5		5	NBPF10	1	144816536	Silent	SNP	T	TCGA-02-0047-01A-01D-1490-08	27263719	144816536	104434085	6	112											
PTPRC	5788	broad.mit.edu	37	1	198721383	198721383	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:198721383C>T	uc001gur.1	+	29	3387	c.3207C>T	c.(3205-3207)atC>atT	p.I1069I	PTPRC_uc001gut.1_Silent_p.I908I	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1069	Tyrosine-protein phosphatase 2.				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			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						TCTAGGAAATCTGTGCTCAGT	0.388													T	198721383	C	T	198721383	2	4	3	1	0	0	0	0	0	0	0	1	12797	903	32	3		3	PTPRC	1	198721383	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	53904847	198721383	50529238	7	113											
NAV1	89796	broad.mit.edu	37	1	201750337	201750337	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:201750337C>T	uc021phi.1	+	4	1910	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	NAV1_uc001gwu.3_Silent_p.I521I|NAV1_uc001gwv.1_Silent_p.I29I|NAV1_uc001gww.2_Silent_p.I130I|NAV1_uc001gwx.3_Silent_p.I130I|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	521					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAAAGCCCATCAGCCTGGGCC	0.577													T	201750337	C	T	201750337	2	4	3	1	0	0	0	0	0	0	0	1	10183	816	29	3		3	NAV1	1	201750337	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	3028954	201750337	47500284	8	114											
PCNXL2	80003	broad.mit.edu	37	1	233395011	233395011	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:233395011C>T	uc001hvl.2	-	4	832	c.597G>A	c.(595-597)gcG>gcA	p.A199A	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	199						integral to membrane		p.A199G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGCTTGAGACGCAGGTAAGC	0.448													T	233395011	C	T	233395011	2	4	3	1	0	0	0	0	0	0	0	1	11592	523	19	1		1	PCNXL2	1	233395011	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	31644674	233395011	15855610	9	115											
RYR2	6262	broad.mit.edu	37	1	237794836	237794836	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:237794836T>C	uc001hyl.1	+	41	6670	c.6550T>C	c.(6550-6552)Tcc>Ccc	p.S2184P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2184	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			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)			AGGTGGAGAGTCCAAGGTAAC	0.393													C	237794836	T	C	237794836	3	2	3	1	0	0	0	0	1	0	0	0	13769	1667	58	4	6716	4	RYR2	1	237794836	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	4399825	237794836	11455785	10	116											
SPTBN1	6711	broad.mit.edu	37	2	54852086	54852086	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:54852086G>A	uc002rxu.3	+	10	1577	c.1328G>A	c.(1327-1329)cGt>cAt	p.R443H	SPTBN1_uc002rxv.1_Missense_Mutation_p.R443H|SPTBN1_uc002rxx.3_Missense_Mutation_p.R430H	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	443					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAAACCAGCGTCTGGTGTCT	0.507													A	54852086	G	A	54852086	3	1	3	1	0	0	0	0	1	0	0	0	15118	1145	40	1	1479	1	SPTBN1	2	54852086	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		54852086	188347287	11	117											
BCL11A	53335	broad.mit.edu	37	2	60688379	60688379	+	Missense_Mutation	SNP	C	C	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:60688379C>G	uc002sae.1	-	3	1896	c.1668G>C	c.(1666-1668)caG>caC	p.Q556H	BCL11A_uc002sab.3_Missense_Mutation_p.Q556H|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.Q225H|BCL11A_uc010ypj.2_Missense_Mutation_p.Q522H|BCL11A_uc002sad.1_Missense_Mutation_p.Q404H|BCL11A_uc002saf.1_Missense_Mutation_p.Q522H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	556					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCTGAAGTGCTGCATGGAGC	0.697			T	IGH@	B-CLL								G	60688379	C	G	60688379	3	3	3	1	0	0	0	0	1	0	0	0	1363	796	28	5	949	5	BCL11A	2	60688379	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	5836293	60688379	182510994	12	118											
SLC9A4	389015	broad.mit.edu	37	2	103095487	103095487	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:103095487G>A	uc002tbz.4	+	1	903	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	149					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATGCCCACCCGGCCCTTCTTT	0.597													A	103095487	G	A	103095487	3	1	3	1	0	0	0	0	1	0	0	0	14716	1116	39	2	452	2	SLC9A4	2	103095487	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	42407108	103095487	140103886	13	119											
IL1B	3553	broad.mit.edu	37	2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:113588108G>A	uc002tii.1	-	6	727	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_uc002tih.1_Nonsense_Mutation_p.R183*	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	214					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AAGACAAATCGCTTTTCCATC	0.423													A	113588108	G	A	113588108	4	1	3	1	0	0	0	0	0	1	0	0	7651	1095	38	1	173	1	IL1B	2	113588108	Nonsense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	10492621	113588108	129611265	14	120											
TUBA4A	7277	broad.mit.edu	37	2	220116339	220116339	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:220116339T>C	uc002vkt.1	-	2	381	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	TUBA4A_uc010zkz.1_Missense_Mutation_p.Y93C|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	108					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCAATGGTATAGTGACCACG	0.532													C	220116339	T	C	220116339	3	2	3	1	0	0	0	0	1	0	0	0	16746	1406	49	4	1031	4	TUBA4A	2	220116339	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	106528231	220116339	23083034	15	121											
DES	1674	broad.mit.edu	37	2	220286104	220286104	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:220286104T>A	uc002vll.3	+	5	1152	c.1066T>A	c.(1066-1068)Ttt>Att	p.F356I		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	356	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	p.F356I(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGGACCGATTTGCCAGTGA	0.587													A	220286104	T	A	220286104	3	1	3	1	0	0	0	0	1	0	0	0	4449	1493	52	5	1088	5	DES	2	220286104	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	169765	220286104	22913269	16	122											
COL4A4	1286	broad.mit.edu	37	2	227886828	227886828	+	Silent	SNP	C	C	T	rs75398993	by1000genomes	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:227886828C>T	uc021vxr.1	-	42	4253	c.4152G>A	c.(4150-4152)gcG>gcA	p.A1384A	COL4A4_uc021vxs.1_Silent_p.A1381A	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1384	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATGCCTGGCGCCCCAGGAA	0.567													T	227886828	C	T	227886828	2	4	3	1	0	0	0	0	0	0	0	1	3693	755	27	1		1	COL4A4	2	227886828	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	7600724	227886828	15312545	17	123											
ZNF385D	79750	broad.mit.edu	37	3	21462765	21462765	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr3:21462765G>A	uc003cce.3	-	7	1537	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	377						nucleus	nucleic acid binding|zinc ion binding	p.R377W(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAGCTGGCCGCAGGAGTGCC	0.532													A	21462765	G	A	21462765	3	1	3	1	0	0	0	0	1	0	0	0	17875	1086	38	1	62	1	ZNF385D	3	21462765	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		21462765	176559665	18	124											
PIK3CA	5290	broad.mit.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr3:178921553T>A	uc003fjk.3	+	4	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(89)|p.V344G(5)|p.V344A(3)|p.N345I(3)|p.V344M(3)|p.N345D(2)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178921553	T	A	178921553	3	1	3	1	0	0	0	0	1	0	0	0	11913	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	157458788	178921553	19100877	19	125											
PDGFRA	5156	broad.mit.edu	37	4	55152112	55152113	+	In_Frame_Ins	INS	-	-	TTT			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:55152112_55152113insTTT	uc003han.4	+	17	2875_2876	c.2544_2545insTTT	c.(2542-2547)insTTT	p.848_849insF	PDGFRA_uc003haa.3_In_Frame_Ins_p.608_609insF	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	848	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.(814_854)?(57)|p.M844_S847del(9)|p.I843_S847>T(7)|p.Y849C(4)|p.H845_N848>P(3)|p.Y849D(2)|p.M844_S847>P(2)|p.Y849S(2)|p.N848K(2)|p.S847fs*1(1)|p.H845_N848del(1)|p.I843_S847>H(1)|p.D842_S847>EA(1)|p.I843_S847>L(1)|p.D842_S847>RV(1)|p.I843_S847>I(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)	ATGATTCGAACTATGTGTCGAA	0.495			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			TTT	55152113	-	TTT	55152112	7	5	3	1	0	1	1	0	0	0	0	0	11661	564	20	0	2610	0	PDGFRA	4	55152112	In_Frame_Ins	INS	-	TCGA-02-0047-01A-01D-1490-08		55152112	136002164	20	126											
EPHA5	2044	broad.mit.edu	37	4	66467624	66467624	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:66467624T>A	uc003hcy.3	-	2	838	c.645A>T	c.(643-645)caA>caT	p.Q215H	EPHA5_uc003hcx.3_Missense_Mutation_p.Q146H|EPHA5_uc003hcz.3_Missense_Mutation_p.Q215H|EPHA5_uc011cah.2_Missense_Mutation_p.Q215H|EPHA5_uc011cai.2_Missense_Mutation_p.Q215H|EPHA5_uc003hda.2_Missense_Mutation_p.Q215H	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	215					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACCAACATCTTGAAAAGCAA	0.428										TSP Lung(17;0.13)			A	66467624	T	A	66467624	3	1	3	1	0	0	0	0	1	0	0	0	5170	1606	56	5	2532	5	EPHA5	4	66467624	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	11315512	66467624	124686652	21	127											
FGA	2243	broad.mit.edu	37	4	155507575	155507575	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:155507575A>G	uc003iod.1	-	4	1064	c.1006T>C	c.(1006-1008)Tct>Cct	p.S336P	FGA_uc003ioe.1_Missense_Mutation_p.S336P|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	336					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAGCTCCCAGAGTTCCAGCTT	0.567													G	155507575	A	G	155507575	3	3	3	1	0	0	0	0	1	0	0	0	5830	304	11	4	1646	4	FGA	4	155507575	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08	89039951	155507575	35646701	22	128											
FBXO8	26269	broad.mit.edu	37	4	175180976	175180976	+	Silent	SNP	C	C	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:175180976C>A	uc003itp.3	-	3	1180	c.330_splice	c.e3-1	p.G110_splice	FBXO8_uc003itq.3_Splice_Site_p.G69_splice	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	Homo sapiens F-box protein 8 (FBXO8), mRNA.	110	F-box.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		ATTTGCACAACCTATAAAATC	0.318													A	175180976	C	A	175180976	2	1	3	1	0	0	0	0	0	0	0	1	5761	521	18	5		5	FBXO8	4	175180976	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	19673401	175180976	15973300	23	129											
WWC2	80014	broad.mit.edu	37	4	184201980	184201980	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:184201980G>C	uc010irx.3	+	16	2796	c.2614G>C	c.(2614-2616)Gaa>Caa	p.E872Q	WWC2_uc003ivk.4_Missense_Mutation_p.E667Q|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.E554Q|WWC2_uc003ivn.4_Missense_Mutation_p.E387Q|WWC2_uc010irz.3_Missense_Mutation_p.E189Q|WWC2_uc003ivo.4_5'Flank	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	872										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTTAGCTGTGgaacaagaatt	0.403													C	184201980	G	C	184201980	3	2	3	1	0	0	0	0	1	0	0	0	17409	1175	41	5	2680	5	WWC2	4	184201980	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	9021004	184201980	6952296	24	130											
GFM2	84340	broad.mit.edu	37	5	74028894	74028894	+	Missense_Mutation	SNP	G	G	A	rs139234343		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:74028894G>A	uc010izj.1	-	16	1962	c.1636C>T	c.(1636-1638)Cgt>Tgt	p.R546C	GFM2_uc003kdh.1_Missense_Mutation_p.R514C|GFM2_uc003kdi.1_Missense_Mutation_p.R467C|GFM2_uc010izk.1_Non-coding_Transcript	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	514					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GGATCTTCACGCTGAAGACAT	0.348													A	74028894	G	A	74028894	3	1	3	1	0	0	0	0	1	0	0	0	6342	1087	38	1	823	1	GFM2	5	74028894	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		74028894	106886366	25	131											
GFM2	84340	broad.mit.edu	37	5	74041590	74041590	+	Silent	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:74041590T>C	uc010izj.1	-	10	1184	c.858A>G	c.(856-858)aaA>aaG	p.K286K	GFM2_uc003kdh.1_Silent_p.K254K|GFM2_uc003kdi.1_Silent_p.K254K|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Silent_p.K254K|GFM2_uc010izl.1_Silent_p.K212K	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	254					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TCTCAAAGTCTTTTCCATCAT	0.358													C	74041590	T	C	74041590	2	2	3	1	0	0	0	0	0	0	0	1	6342	1606	56	4		4	GFM2	5	74041590	Silent	SNP	T	TCGA-02-0047-01A-01D-1490-08	12696	74041590	106873670	26	132											
PCDHGC5	9708	broad.mit.edu	37	5	140774103	140774103	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:140774103G>A	uc003lkd.2	+	0	2621	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.V575M|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	577	Cadherin 6.				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)			TTCCACTGGCGTGGAGCTGGC	0.657													A	140774103	G	A	140774103	3	1	3	1	0	0	0	0	1	0	0	0	11571	1145	40	1		1	PCDHGC5	5	140774103	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	66732513	140774103	40141157	27	133											
ADAMTS2	9509	broad.mit.edu	37	5	178556976	178556976	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:178556976G>A	uc003mjw.3	-	15	2516	c.2414C>T	c.(2413-2415)aCg>aTg	p.T805M		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	805	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTCTGCAGCGTCTCCCGGCC	0.607													A	178556976	G	A	178556976	3	1	3	1	0	0	0	0	1	0	0	0	265	1145	40	1	1249	1	ADAMTS2	5	178556976	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	37782873	178556976	2358284	28	134											
ADAMTS2	9509	broad.mit.edu	37	5	178585775	178585775	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:178585775C>T	uc003mjw.3	-	5	1183	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ADAMTS2_uc011dgm.2_Missense_Mutation_p.D361N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	361	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGCGTGATCGTGGTATTCA	0.607													T	178585775	C	T	178585775	3	4	3	1	0	0	0	0	1	0	0	0	265	884	31	2	2697	2	ADAMTS2	5	178585775	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	28799	178585775	2329485	29	135											
TREML2	79865	broad.mit.edu	37	6	41162491	41162491	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:41162491G>A	uc010jxm.1	-	2	636	c.457C>T	c.(457-459)Cct>Tct	p.P153S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	153					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGAGGTAGGGGCTTGGCCA	0.542													A	41162491	G	A	41162491	3	1	3	1	0	0	0	0	1	0	0	0	16470	1232	43	3	520	3	TREML2	6	41162491	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		41162491	129952576	30	136											
DEFB110	245913	broad.mit.edu	37	6	49976918	49976918	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:49976918G>T	uc011dwr.2	-	1	168	c.122C>A	c.(121-123)aCg>aAg	p.T41K		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 2, mRNA.	44					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATCACAAAACGTTTTACATAT	0.333													T	49976918	G	T	49976918	3	4	3	1	0	0	0	0	1	0	0	0	4400	1145	40	5	68	5	DEFB110	6	49976918	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	8814427	49976918	121138149	31	137											
FAM83B	222584	broad.mit.edu	37	6	54791195	54791195	+	Silent	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:54791195T>C	uc003pck.3	+	2	587	c.471T>C	c.(469-471)ttT>ttC	p.F157F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	157										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)					TGGATATATTTACAGATGTGG	0.299													C	54791195	T	C	54791195	2	2	3	1	0	0	0	0	0	0	0	1	5634	1751	61	4		4	FAM83B	6	54791195	Silent	SNP	T	TCGA-02-0047-01A-01D-1490-08	4814277	54791195	116323872	32	138											
LAMA2	3908	broad.mit.edu	37	6	129371087	129371087	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:129371087T>A	uc021zfb.1	+	1	242	c.137T>A	c.(136-138)cTt>cAt	p.L46H	LAMA2_uc003qbn.3_Missense_Mutation_p.L46H|LAMA2_uc003qbo.3_Missense_Mutation_p.L46H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	46	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTCCTGAATCTTGCTTCTAAT	0.403													A	129371087	T	A	129371087	3	1	3	1	0	0	0	0	1	0	0	0	8606	1609	56	5	143	5	LAMA2	6	129371087	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	74579892	129371087	41743980	33	139											
SASH1	23328	broad.mit.edu	37	6	148865365	148865365	+	Missense_Mutation	SNP	G	G	A	rs145411864		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:148865365G>A	uc003qme.1	+	17	3234	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H	SASH1_uc011eeb.1_Missense_Mutation_p.R681H|SASH1_uc003qmf.1_Missense_Mutation_p.R330H	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	920							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCTCTGGTCGCGGCCTGTCA	0.517													A	148865365	G	A	148865365	3	1	3	1	0	0	0	0	1	0	0	0	13848	1087	38	1	2829	1	SASH1	6	148865365	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	19494278	148865365	22249702	34	140											
PLEKHG1	57480	broad.mit.edu	37	6	151152163	151152163	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:151152163G>A	uc011eem.1	+	14	2181	c.2093G>A	c.(2092-2094)gGg>gAg	p.G698E	PLEKHG1_uc011eel.1_Missense_Mutation_p.G679E|PLEKHG1_uc003qny.1_Missense_Mutation_p.G639E|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G639E	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	639					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AAAACAGAAGGGCAGGAGGAG	0.478													A	151152163	G	A	151152163	3	1	3	1	0	0	0	0	1	0	0	0	12068	1232	43	3	1970	3	PLEKHG1	6	151152163	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	2286798	151152163	19962904	35	141											
PLG	5340	broad.mit.edu	37	6	161173177	161173177	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:161173177C>T	uc003qtm.4	+	17	2268	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	719	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTCAAGGAAGCCCAGCTCCCT	0.468													T	161173177	C	T	161173177	3	4	3	1	0	0	0	0	1	0	0	0	12086	739	26	3	2230	3	PLG	6	161173177	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	10021014	161173177	9941890	36	142											
GAL3ST4	79690	broad.mit.edu	37	7	99758263	99758263	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr7:99758263C>T	uc003utt.3	-	2	1766	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.R188Q|GAL3ST4_uc003utu.3_Missense_Mutation_p.R250Q	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	250					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTTTGGGCTCGAGGGCCAGC	0.567													T	99758263	C	T	99758263	3	4	3	1	0	0	0	0	1	0	0	0	6200	884	31	2	715	2	GAL3ST4	7	99758263	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		99758263	59380400	37	143											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	3	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08	40694873	140453136	18685527	38	144											
FAM86B2	653333	broad.mit.edu	37	8	12286307	12286307	+	Missense_Mutation	SNP	T	T	C	rs148161726		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:12286307T>C	uc003wvt.4	-	5	577	c.577A>G	c.(577-579)Atc>Gtc	p.I193V	LOC100506990_uc011kxp.1_Intron|FAM86B2_uc003wvq.4_Intron|FAM86B2_uc003wvr.4_Missense_Mutation_p.I16V|FAM86B2_uc010lsn.3_Intron|FAM86B2_uc003wvu.4_Intron|FAM86B2_uc010lso.3_Intron|FAM86B2_uc011kxt.2_Intron|FAM86B2_uc010lsl.3_Intron|FAM86B2_uc011kxu.2_Intron	NM_001137610	NP_001131082	P0C5J1	F86B2_HUMAN	Homo sapiens family with sequence similarity 86, member B2 (FAM86B2), mRNA.	193										endometrium(1)|kidney(2)	3						TGCTCGAGGATCCGGCTGTGA	0.602													C	12286307	T	C	12286307	3	2	3	1	0	0	0	0	1	0	0	0	5645	1435	50	4	427	4	FAM86B2	8	12286307	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08		12286307	134077715	39	145											
ASAH1	427	broad.mit.edu	37	8	17916969	17916969	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:17916969C>T	uc003wyn.2	-	11	1167	c.970G>A	c.(970-972)Gat>Aat	p.D324N	ASAH1_uc003wyl.2_Missense_Mutation_p.D308N|ASAH1_uc003wym.2_Missense_Mutation_p.D283N|ASAH1_uc003wyo.2_Missense_Mutation_p.D302N	NM_004315	NP_004306	Q13510	ASAH1_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 2, mRNA.	308					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGCTTAGCATCGAGTCTAGAT	0.398													T	17916969	C	T	17916969	3	4	3	1	0	0	0	0	1	0	0	0	1006	884	31	2	277	2	ASAH1	8	17916969	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	5630662	17916969	128447053	40	146											
DNAJC5B	85479	broad.mit.edu	37	8	66963845	66963845	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:66963845C>T	uc003xvs.1	+	2	354	c.63C>T	c.(61-63)taC>taT	p.Y21Y	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	21	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGCTCTATACGAAATTCTTG	0.398													T	66963845	C	T	66963845	2	4	3	1	0	0	0	0	0	0	0	1	4651	547	19	1		1	DNAJC5B	8	66963845	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	49046876	66963845	79400177	41	147											
RNF19A	25897	broad.mit.edu	37	8	101273881	101273881	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:101273881C>T	uc003yjj.1	-	8	1888	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	RNF19A_uc003yjk.1_Missense_Mutation_p.R524Q	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	524					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GGCTCCTATTCGATCCATGTG	0.532													T	101273881	C	T	101273881	3	4	3	1	0	0	0	0	1	0	0	0	13470	884	31	2	957	2	RNF19A	8	101273881	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	34310036	101273881	45090141	42	148											
GPR158	57512	broad.mit.edu	37	10	25886887	25886887	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:25886887G>T	uc001isj.3	+	10	2392	c.2332G>T	c.(2332-2334)Gac>Tac	p.D778Y	GPR158_uc001isk.3_Missense_Mutation_p.D153Y	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	778						integral to membrane|plasma membrane	G-protein coupled receptor activity			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						GGAGGGCGCCGACCATGGCAC	0.567													T	25886887	G	T	25886887	3	4	3	1	0	0	0	0	1	0	0	0	6663	1058	37	5	2374	5	GPR158	10	25886887	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		25886887	109647860	43	149			1	1		2	2	19	G		4.825974e-05
GPR158	57512	broad.mit.edu	37	10	25886905	25886905	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:25886905G>C	uc001isj.3	+	10	2410	c.2350G>C	c.(2350-2352)Ggc>Cgc	p.G784R	GPR158_uc001isk.3_Missense_Mutation_p.G159R	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	784						integral to membrane|plasma membrane	G-protein coupled receptor activity			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						CACAGCCAAAGGCACTGCCCT	0.547													C	25886905	G	C	25886905	3	2	3	1	0	0	0	0	1	0	0	0	6663	1000	35	5	2392	5	GPR158	10	25886905	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	18	25886905	109647842	44	150			1	1		2	2	19	G		4.825974e-05
MYO3A	53904	broad.mit.edu	37	10	26446423	26446423	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:26446423T>A	uc001isn.2	+	25	3338	c.2978T>A	c.(2977-2979)cTt>cAt	p.L993H	MYO3A_uc009xko.1_Missense_Mutation_p.L993H|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	993	Myosin head-like.				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			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						CATCGGATACTTTTTGCTAAC	0.333													A	26446423	T	A	26446423	3	1	3	1	0	0	0	0	1	0	0	0	10076	1609	56	5	3072	5	MYO3A	10	26446423	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	559518	26446423	109088324	45	151											
CXCL12	6387	broad.mit.edu	37	10	44876321	44876321	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:44876321G>A	uc001jbf.3	-	1	161	c.69C>T	c.(67-69)ccC>ccT	p.P23P	CXCL12_uc001jbh.3_Silent_p.P23P|CXCL12_uc021ppm.1_Silent_p.P23P|CXCL12_uc001jbi.3_Silent_p.P23P	NM_000609	NP_000600	P48061	SDF1_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 2, mRNA.	23					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	p.P23P(4)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TCAGGCTGACGGGCTTCCCTA	0.507													A	44876321	G	A	44876321	2	1	3	1	0	0	0	0	0	0	0	1	4080	1103	39	2		2	CXCL12	10	44876321	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	18429898	44876321	90658426	46	152											
OR52I2	143502	broad.mit.edu	37	11	4609074	4609074	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:4609074C>A	uc010qyh.2	+	0	1054	c.1032C>A	c.(1030-1032)gaC>gaA	p.D344E		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	344					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCTCTTTGACCATTCCAACC	0.453													A	4609074	C	A	4609074	3	1	3	1	0	0	0	0	1	0	0	0	11121	506	18	5	1034	5	OR52I2	11	4609074	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		4609074	130397442	47	153											
TEAD1	7003	broad.mit.edu	37	11	12946585	12946585	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:12946585G>A	uc021qdx.1	+	10	1620	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TEAD1_uc001mkk.4_Missense_Mutation_p.V238I|TEAD1_uc009ygl.3_Missense_Mutation_p.V155I	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	334	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GAAGCAAGTAGTAGAAAAAGT	0.438													A	12946585	G	A	12946585	3	1	3	1	0	0	0	0	1	0	0	0	15735	1029	36	3	1034	3	TEAD1	11	12946585	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	8337511	12946585	122059931	48	154											
OR5M3	219482	broad.mit.edu	37	11	56237516	56237516	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:56237516G>A	uc010rjk.2	-	0	499	c.458C>T	c.(457-459)aCg>aTg	p.T153M	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGCCAGACTCGTCAGAAAACC	0.413													A	56237516	G	A	56237516	3	1	3	1	0	0	0	0	1	0	0	0	11175	1145	40	1	467	1	OR5M3	11	56237516	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	43290931	56237516	78769000	49	155											
SCYL1	57410	broad.mit.edu	37	11	65303487	65303487	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:65303487C>T	uc001oea.1	+	10	1527	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	SCYL1_uc009yqk.3_Missense_Mutation_p.R484W|SCYL1_uc001oeb.1_Missense_Mutation_p.R484W|SCYL1_uc001oec.1_Missense_Mutation_p.R484W|SCYL1_uc001oee.1_Missense_Mutation_p.R128W	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	484					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TGCACCGTCCCGGGTTGCGGG	0.597													T	65303487	C	T	65303487	3	4	3	1	0	0	0	0	1	0	0	0	13947	643	23	2	1492	2	SCYL1	11	65303487	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	9065971	65303487	69703029	50	156											
FAT3	120114	broad.mit.edu	37	11	92568240	92568240	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:92568240C>T	uc001pdj.4	+	13	10093	c.10076C>T	c.(10075-10077)tCt>tTt	p.S3359F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3359	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				GTGGGAGACTCTGTCATTTTG	0.468										TCGA Ovarian(4;0.039)			T	92568240	C	T	92568240	3	4	3	1	0	0	0	0	1	0	0	0	5691	913	32	3	10130	3	FAT3	11	92568240	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	27264753	92568240	42438276	51	157											
EXPH5	23086	broad.mit.edu	37	11	108380635	108380635	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:108380635G>A	uc001pkk.3	-	5	5710	c.5599C>T	c.(5599-5601)Cgc>Tgc	p.R1867C	EXPH5_uc010rvz.2_Missense_Mutation_p.R1711C|EXPH5_uc010rvy.2_Missense_Mutation_p.R1679C	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1867					intracellular protein transport		Rab GTPase binding			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)		GTCCCGCTGCGATAAGCCCAA	0.428													A	108380635	G	A	108380635	3	1	3	1	0	0	0	0	1	0	0	0	5322	1058	37	2	374	2	EXPH5	11	108380635	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	15812395	108380635	26625881	52	158											
DDX6	1656	broad.mit.edu	37	11	118626197	118626197	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:118626197C>T	uc001pub.2	-	11	1551	c.1190G>A	c.(1189-1191)gGt>gAt	p.G397D	DDX6_uc001pua.2_Missense_Mutation_p.G97D|DDX6_uc001puc.2_Missense_Mutation_p.G397D	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	397	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	p.G386V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TATATCAATACCTCGGGTAAA	0.323			T	IGH@	B-NHL								T	118626197	C	T	118626197	3	4	3	1	0	0	0	0	1	0	0	0	4377	507	18	3	269	3	DDX6	11	118626197	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	10245562	118626197	16380319	53	159											
B4GALNT3	283358	broad.mit.edu	37	12	662979	662979	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:662979G>A	uc001qii.1	+	13	1890	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	B4GALNT3_uc001qij.1_Silent_p.P533P|B4GALNT3_uc001qik.1_Silent_p.P179P	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	630						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGTTTGACCCGGTAGTAAACT	0.547													A	662979	G	A	662979	2	1	3	1	0	0	0	0	0	0	0	1	1268	1103	39	2		2	B4GALNT3	12	662979	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08		662979	133188916	54	160											
CLSTN3	9746	broad.mit.edu	37	12	7294683	7294683	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:7294683G>A	uc001qss.3	+	9	2061	c.1523_splice	c.e9-1	p.E508_splice	CLSTN3_uc001qsr.3_Splice_Site_p.E496_splice	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	496					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TATCCCCAGAGGAGAAGAACA	0.453											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7294683	G	A	7294683	2	1	3	1	0	0	0	0	0	0	0	1	3563	1014	35	3		3	CLSTN3	12	7294683	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	6631704	7294683	126557212	55	161											
RIMKLB	57494	broad.mit.edu	37	12	8926145	8926162	+	In_Frame_Del	DEL	CTGGCCGGCTCACCCGGC	CTGGCCGGCTCACCCGGC	-	rs34259191		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:8926145_8926162delCTGGCCGGCTCACCCGGC	uc001qux.2	+	6	2188_2205	c.926_943delCTGGCCGGCTCACCCGGC	c.(925-945)tctggccggctcacccggcgt>tgt	p.309_315SGRLTRR>C	RIMKLB_uc009zgf.2_Intron|RIMKLB_uc010sgl.1_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	309					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	p.R314W(2)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTTCTACCCTCTGGCCGGCTCACCCGGCGTATGTCCCT	0.55													-	8926162	CTGGCCGGCTCACCCGGC	-	8926145	7	5	3	1	0	1	0	1	0	0	0	0	13366	913	32	0	944	0	RIMKLB	12	8926145	In_Frame_Del	DEL	CTGGCCGGCTCACCCGGC	TCGA-02-0047-01A-01D-1490-08	1631462	8926145	124925750	56	162											
BCL2L14	79370	broad.mit.edu	37	12	12247837	12247837	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:12247837G>A	uc001rac.3	+	4	1119	c.918G>A	c.(916-918)tcG>tcA	p.S306S	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.3_Silent_p.S306S|BCL2L14_uc001rae.3_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	306					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		AGAACTTCTCGCCATGGATCC	0.448													A	12247837	G	A	12247837	2	1	3	1	0	0	0	0	0	0	0	1	1372	1074	38	1		1	BCL2L14	12	12247837	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	3321692	12247837	121604058	57	163											
LRP6	4040	broad.mit.edu	37	12	12274335	12274335	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:12274335G>A	uc001rah.4	-	22	4709	c.4567C>T	c.(4567-4569)Cgg>Tgg	p.R1523W	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1478W	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1523					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			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)				GCAAAGTGCCGGTAGCTATAT	0.458													A	12274335	G	A	12274335	3	1	3	1	0	0	0	0	1	0	0	0	8962	1115	39	2	278	2	LRP6	12	12274335	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	26498	12274335	121577560	58	164											
TPTE2	93492	broad.mit.edu	37	13	20041405	20041405	+	Missense_Mutation	SNP	A	A	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:20041405A>C	uc001umd.3	-	7	683	c.472T>G	c.(472-474)Tac>Gac	p.Y158D	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	158						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAAATGTAAATGACATCA	0.294													C	20041405	A	C	20041405	3	2	3	1	0	0	0	0	1	0	0	0	16428	362	13	5	1152	5	TPTE2	13	20041405	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08		20041405	95128473	59	165											
PABPC3	5042	broad.mit.edu	37	13	25671552	25671552	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:25671552G>A	uc001upy.3	+	0	1277	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	406					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTTCATGACAGCTGTCCCACA	0.532													A	25671552	G	A	25671552	3	1	3	1	0	0	0	0	1	0	0	0	11365	971	34	3	1218	3	PABPC3	13	25671552	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	5630147	25671552	89498326	60	166											
DIS3	22894	broad.mit.edu	37	13	73336102	73336102	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:73336102T>A	uc001vix.4	-	16	2675	c.2301A>T	c.(2299-2301)ttA>ttT	p.L767F	DIS3_uc001viy.4_Missense_Mutation_p.L737F|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	767					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTGGAGACGCTAAGCCATAGT	0.328										Multiple Myeloma(4;0.011)			A	73336102	T	A	73336102	3	1	3	1	0	0	0	0	1	0	0	0	4535	1519	53	5	595	5	DIS3	13	73336102	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	47664550	73336102	41833776	61	167											
GPR132	29933	broad.mit.edu	37	14	105518226	105518226	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr14:105518226C>T	uc001yqd.3	-	3	1147	c.248G>A	c.(247-249)tGc>tAc	p.C83Y	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.C74Y	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	83					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAGTGCCAGGCAGAGCAGGTA	0.662													T	105518226	C	T	105518226	3	4	3	1	0	0	0	0	1	0	0	0	6642	710	25	3	898	3	GPR132	14	105518226	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		105518226	1831314	62	168											
RYR3	6263	broad.mit.edu	37	15	34047281	34047281	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:34047281G>A	uc001zhi.3	+	57	8485	c.8415G>A	c.(8413-8415)atG>atA	p.M2805I	RYR3_uc010bar.3_Missense_Mutation_p.M2805I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2805	4 X approximate repeats.				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)		TGAAGGATATGGAGCTGGATG	0.458													A	34047281	G	A	34047281	3	1	3	1	0	0	0	0	1	0	0	0	13770	1348	47	3	8645	3	RYR3	15	34047281	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		34047281	68484111	63	169											
BUB1B	701	broad.mit.edu	37	15	40512942	40512942	+	Silent	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:40512942G>A	uc001zkx.4	+	22	3347	c.3135G>A	c.(3133-3135)ggG>ggA	p.G1045G	PAK6_uc010bbl.3_Intron|PAK6_uc010bbm.3_Intron	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	1045	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTAGTCCTGGGGCTTTGCTCT	0.443			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				A	40512942	G	A	40512942	2	1	3	1	0	0	0	0	0	0	0	1	1571	1219	43	3		3	BUB1B	15	40512942	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	6465661	40512942	62018450	64	170											
ZNF280D	54816	broad.mit.edu	37	15	56993158	56993158	+	Frame_Shift_Del	DEL	A	A	-			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:56993158delA	uc002adu.3	-	5	571	c.354delT	c.(352-354)tctfs	p.S118fs	ZNF280D_uc002adv.3_Frame_Shift_Del_p.S105fs|ZNF280D_uc010bfq.3_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adw.1_Frame_Shift_Del_p.S146fs|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc002ady.3_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adx.3_Frame_Shift_Del_p.S118fs	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GAACAATAACAGAACTATCTG	0.393													-	56993158	A	-	56993158	7	5	3	1	0	1	0	1	0	0	0	0	17814	175	7	0	2749	0	ZNF280D	15	56993158	Frame_Shift_Del	DEL	A	TCGA-02-0047-01A-01D-1490-08	16480216	56993158	45538234	65	171											
ADAMTS7	11173	broad.mit.edu	37	15	79059831	79059831	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:79059831T>G	uc002bej.4	-	17	2960	c.2749A>C	c.(2749-2751)Agc>Cgc	p.S917R	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	917	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGGGCGCTCTGCTCATCC	0.701													G	79059831	T	G	79059831	3	3	3	1	0	0	0	0	1	0	0	0	271	1551	54	5	2339	5	ADAMTS7	15	79059831	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	22066673	79059831	23471561	66	172											
C16orf91	283951	broad.mit.edu	37	16	1478504	1478504	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr16:1478504C>T	uc010uvd.2	-	1	147	c.147G>A	c.(145-147)gcG>gcA	p.A49A		NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CTGCCGCCCGCGCCTTTCAGG	0.677													T	1478504	C	T	1478504	2	4	3	1	0	0	0	0	0	0	0	1	1844	755	27	1		1	C16orf91	16	1478504	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08		1478504	88876249	67	173											
CREBBP	1387	broad.mit.edu	37	16	3843446	3843446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr16:3843446delC	uc002cvv.3	-	3	1361	c.1157delG	c.(1156-1158)cgafs	p.R386fs	CREBBP_uc002cvw.3_Frame_Shift_Del_p.R386fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	386	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.T387fs*5(1)|p.R386*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTCATGGTTCGACAATGCGG	0.507			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						-	3843446	C	-	3843446	7	5	3	1	0	1	0	1	0	0	0	0	3861	884	31	0	6283	0	CREBBP	16	3843446	Frame_Shift_Del	DEL	C	TCGA-02-0047-01A-01D-1490-08	2364942	3843446	86511307	68	174											
ABR	29	broad.mit.edu	37	17	953842	953842	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:953842C>T	uc002fsd.3	-	14	1704	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	ABR_uc002fse.3_Missense_Mutation_p.G486S|ABR_uc010vqg.2_Missense_Mutation_p.G314S|ABR_uc002fsg.3_Missense_Mutation_p.G495S|ABR_uc002fsh.1_Intron	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	532	C2.				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	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAAAATAGCCGAAGGAATCC	0.617													T	953842	C	T	953842	3	4	3	1	0	0	0	0	1	0	0	0	99	652	23	2	1021	2	ABR	17	953842	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		953842	80241368	69	175											
SPACA3	124912	broad.mit.edu	37	17	31322643	31322643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:31322643delC	uc002hhs.1	+	1	326	c.251delC	c.(250-252)tccfs	p.S84fs	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	84					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTGCTACCCTCCAGTGAGGCC	0.607													-	31322643	C	-	31322643	7	5	3	1	0	1	0	1	0	0	0	0	14973	855	30	0	257	0	SPACA3	17	31322643	Frame_Shift_Del	DEL	C	TCGA-02-0047-01A-01D-1490-08	30368801	31322643	49872567	70	176											
GSDMA	284110	broad.mit.edu	37	17	38122551	38122551	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:38122551C>T	uc002htl.1	+	2	371	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	GSDMA_uc002htm.1_Silent_p.L85L	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	85					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TAAGAATATGCTGGACACCCG	0.537													T	38122551	C	T	38122551	2	4	3	1	0	0	0	0	0	0	0	1	6816	796	28	3		3	GSDMA	17	38122551	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	6799908	38122551	43072659	71	177											
KRT15	3866	broad.mit.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:39673185C>T	uc002hwy.3	-	2	804	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_uc002hwz.3_Missense_Mutation_p.V107I|KRT15_uc002hxa.3_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(6)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													T	39673185	C	T	39673185	3	4	3	1	0	0	0	0	1	0	0	0	8452	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	1550634	39673185	41522025	72	178											
ARSG	22901	broad.mit.edu	37	17	66391258	66391258	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:66391258G>A	uc002jhc.2	+	9	1932	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TRNA_Und_uc021uce.1_5'Flank	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	379					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCCAGGCCAGCTTACCTCAA	0.587													A	66391258	G	A	66391258	3	1	3	1	0	0	0	0	1	0	0	0	992	971	34	3	1170	3	ARSG	17	66391258	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	26718073	66391258	14803952	73	179											
NEDD4L	23327	broad.mit.edu	37	18	56010160	56010160	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr18:56010160G>A	uc002lgy.3	+	15	1683	c.1400G>A	c.(1399-1401)cGt>cAt	p.R467H	NEDD4L_uc002lgz.3_Missense_Mutation_p.R403H|NEDD4L_uc002lgx.3_Missense_Mutation_p.R447H|NEDD4L_uc010xee.1_Missense_Mutation_p.R346H|NEDD4L_uc002lhc.2_Missense_Mutation_p.R459H|NEDD4L_uc002lhd.2_Missense_Mutation_p.R346H|NEDD4L_uc002lhb.2_Missense_Mutation_p.R326H|NEDD4L_uc002lhe.2_Missense_Mutation_p.R439H|NEDD4L_uc002lhf.3_Missense_Mutation_p.R326H|NEDD4L_uc002lhg.3_Missense_Mutation_p.R346H|NEDD4L_uc002lhh.2_Missense_Mutation_p.R242H|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	467					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCACCCGTACGTCGGGCTGTG	0.488													A	56010160	G	A	56010160	3	1	3	1	0	0	0	0	1	0	0	0	10311	1145	40	1	1490	1	NEDD4L	18	56010160	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		56010160	22067088	74	180											
HMG20B	10362	broad.mit.edu	37	19	3578077	3578077	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:3578077G>A	uc002lya.3	+	8	975	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	HMG20B_uc002lyb.3_Missense_Mutation_p.V201I	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN	Homo sapiens high mobility group 20B (HMG20B), mRNA.	303					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCTCATCGTCCGCATCAA	0.701													A	3578077	G	A	3578077	3	1	3	1	0	0	0	0	1	0	0	0	7222	1145	40	1	937	1	HMG20B	19	3578077	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		3578077	55550906	75	181											
SAFB	6294	broad.mit.edu	37	19	5668177	5668177	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:5668177G>A	uc002mcg.3	+	20	2800	c.2629G>A	c.(2629-2631)Ggc>Agc	p.G877S	SAFB_uc002mcf.3_Missense_Mutation_p.G875S|SAFB_uc002mce.4_Missense_Mutation_p.G876S|SAFB_uc010xis.2_Missense_Mutation_p.G808S|SAFB_uc010xit.2_Missense_Mutation_p.G719S|SAFB_uc010xir.2_Missense_Mutation_p.G874S|SAFB_uc010xiu.2_Missense_Mutation_p.G676S	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	875	Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TCCTAGGCGCGGCAGCTTTGC	0.677													A	5668177	G	A	5668177	3	1	3	1	0	0	0	0	1	0	0	0	13806	1116	39	2	2705	2	SAFB	19	5668177	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	2090100	5668177	53460806	76	182											
BTBD3	22903	broad.mit.edu	37	20	11899075	11899075	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr20:11899075A>G	uc002wnz.3	+	0	511	c.152A>G	c.(151-153)gAa>gGa	p.E51G	BTBD3_uc002wny.3_5'UTR|BTBD3_uc002woa.3_5'UTR|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	51								p.E51K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GTTTGTTATGAAATAATTACC	0.458													G	11899075	A	G	11899075	3	3	3	1	0	0	0	0	1	0	0	0	1544	246	9	4	154	4	BTBD3	20	11899075	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08		11899075	51126445	77	183											
RPRD1B	58490	broad.mit.edu	37	20	36676850	36676850	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr20:36676850T>C	uc002xho.4	+	2	784	c.382T>C	c.(382-384)Tct>Cct	p.S128P		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	128	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GCTGAAGCTGTCTATGGAGGA	0.453													C	36676850	T	C	36676850	3	2	3	1	0	0	0	0	1	0	0	0	13616	1667	58	4	392	4	RPRD1B	20	36676850	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	24777775	36676850	26348670	78	184											
DNAJC28	54943	broad.mit.edu	37	21	34860697	34860697	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr21:34860697A>G	uc021wim.1	-	0	1004	c.1004T>C	c.(1003-1005)gTc>gCc	p.V335A	DNAJC28_uc002yrv.3_Missense_Mutation_p.V335A|DNAJC28_uc002yrw.3_Missense_Mutation_p.V335A	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	335				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTGGGCTCTGACAATTTCTTT	0.343													G	34860697	A	G	34860697	3	3	3	1	0	0	0	0	1	0	0	0	4646	275	10	4	166	4	DNAJC28	21	34860697	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08		34860697	13269198	79	185											
SOX10	6663	broad.mit.edu	37	22	38369502	38369502	+	Nonstop_Mutation	SNP	T	T	G			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:38369502T>G	uc003aun.1	-	3	1679	c.1401A>C	c.(1399-1401)taA>taC	p.*467Y	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Nonstop_Mutation_p.*467Y	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	0						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					AGGGCCCCCTTTAGGGCCGGG	0.692													G	38369502	T	G	38369502	4	3	3	1	0	0	0	0	0	0	0	0	14941	1848	64	5	3	5	SOX10	22	38369502	Nonstop_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08		38369502	12935064	80	186											
CELSR1	9620	broad.mit.edu	37	22	46807508	46807508	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:46807508C>T	uc003bhw.1	-	5	4760	c.4760G>A	c.(4759-4761)gGc>gAc	p.G1587D	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1587	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTCTTGGAGCCGGTCTGAGT	0.632													T	46807508	C	T	46807508	3	4	3	1	0	0	0	0	1	0	0	0	3221	739	26	3	4404	3	CELSR1	22	46807508	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	8438006	46807508	4497058	81	187											
PLXNB2	23654	broad.mit.edu	37	22	50719359	50719359	+	Silent	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:50719359C>T	uc003bkv.4	-	23	3900	c.3807G>A	c.(3805-3807)gaG>gaA	p.E1269E	PLXNB2_uc003bkt.1_Silent_p.E61E|PLXNB2_uc003bku.1_Silent_p.E254E	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1269					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGATGCCGGCCTCGTGCACGT	0.652													T	50719359	C	T	50719359	2	4	3	1	0	0	0	0	0	0	0	1	12124	680	24	3		3	PLXNB2	22	50719359	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	3911851	50719359	585207	82	188											
USP9X	8239	broad.mit.edu	37	X	41075440	41075440	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chrX:41075440C>T	uc004dfb.3	+	34	6253	c.5620C>T	c.(5620-5622)Caa>Taa	p.Q1874*	USP9X_uc004dfc.3_Nonsense_Mutation_p.Q1874*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1874					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACACAGTGGTCAAGCGAGTGG	0.443													T	41075440	C	T	41075440	4	4	3	1	0	0	0	0	0	1	0	0	17087	827	29	3	5754	3	USP9X	23	41075440	Nonsense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		41075440	114195120	83	189											
GJB3	2707	broad.mit.edu	37	1	35250842	35250842	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:35250842G>A	uc001bxz.4	+	0	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJB3_uc001bxx.3_Missense_Mutation_p.R160H|GJB3_uc001bxy.3_Missense_Mutation_p.R160H	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	160					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.R160H(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATATGCCGCGCCTGGTGCAG	0.552													A	35250842	G	A	35250842	3	1	4	1	0	0	0	0	1	0	0	0	6409	1087	38	1	481	1	GJB3	1	35250842	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		35250842	213999779	1	190											
C8B	732	broad.mit.edu	37	1	57395177	57395177	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:57395177C>T	uc001cyp.3	-	11	1743	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	C8B_uc010oon.2_Missense_Mutation_p.G497E|C8B_uc010ooo.2_Missense_Mutation_p.G507E	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	559	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTTACGTCTTCCAGAGCATGA	0.448													T	57395177	C	T	57395177	3	4	4	1	0	0	0	0	1	0	0	0	2417	855	30	3	103	3	C8B	1	57395177	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	22144335	57395177	191855444	2	191											
HOOK1	51361	broad.mit.edu	37	1	60294482	60294482	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:60294482A>T	uc009wad.3	+	3	282	c.180A>T	c.(178-180)ttA>ttT	p.L60F	HOOK1_uc001czo.3_Missense_Mutation_p.L60F|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.L18F	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	60	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			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)					AATCTTGGTTAAGCCGAATTA	0.348													T	60294482	A	T	60294482	3	4	4	1	0	0	0	0	1	0	0	0	7282	359	13	5	190	5	HOOK1	1	60294482	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	2899305	60294482	188956139	3	192											
COL11A1	1301	broad.mit.edu	37	1	103453212	103453212	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:103453212G>A	uc001dum.3	-	29	2833	c.2515C>T	c.(2515-2517)Cct>Tct	p.P839S	COL11A1_uc001duk.3_Silent_p.V17V|COL11A1_uc001dul.3_Missense_Mutation_p.P827S|COL11A1_uc001dun.3_Missense_Mutation_p.P788S|COL11A1_uc009weh.3_Missense_Mutation_p.P711S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	827	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P839S(2)		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)		TGACCTGAAGGACCTGGGTCT	0.453													A	103453212	G	A	103453212	3	1	4	1	0	0	0	0	1	0	0	0	3667	1174	41	3	3093	3	COL11A1	1	103453212	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	43158730	103453212	145797409	4	193											
PYHIN1	149628	broad.mit.edu	37	1	158912123	158912123	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:158912123G>A	uc001ftb.3	+	4	1186	c.936G>A	c.(934-936)ccG>ccA	p.P312P	PYHIN1_uc001ftc.3_Silent_p.P303P|PYHIN1_uc001ftd.3_Silent_p.P312P|PYHIN1_uc001fte.3_Silent_p.P303P	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	312	HIN-200.				cell cycle	nuclear speck		p.P312L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAAATTCCGAAGATCAATA	0.378													A	158912123	G	A	158912123	2	1	4	1	0	0	0	0	0	0	0	1	12865	1045	37	2		2	PYHIN1	1	158912123	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	55458911	158912123	90338498	5	194											
RASAL2	9462	broad.mit.edu	37	1	178425898	178425898	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:178425898G>T	uc001glq.3	+	12	3018	c.2254G>T	c.(2254-2256)Gat>Tat	p.D752Y	RASAL2_uc001glr.3_Missense_Mutation_p.D611Y|RASAL2_uc009wxc.3_Missense_Mutation_p.D125Y	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	611					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGTTCTTGCTGATATTACCAA	0.468													T	178425898	G	T	178425898	3	4	4	1	0	0	0	0	1	0	0	0	13064	1290	45	5	2342	5	RASAL2	1	178425898	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	19513775	178425898	70824723	6	195											
STX6	10228	broad.mit.edu	37	1	180971810	180971810	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:180971810A>G	uc021pfr.1	-	2	469	c.232T>C	c.(232-234)Ttt>Ctt	p.F78L	STX6_uc010pnr.2_Intron	NM_005819	NP_005810	O43752	STX6_HUMAN	Homo sapiens syntaxin 6 (STX6), mRNA.	78					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TCAAGGTTAAATTTTCTAGGA	0.353													G	180971810	A	G	180971810	3	3	4	1	0	0	0	0	1	0	0	0	15348	101	4	4	559	4	STX6	1	180971810	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	2545912	180971810	68278811	7	196											
CENPF	1063	broad.mit.edu	37	1	214787153	214787153	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:214787153A>G	uc001hkm.3	+	1	230	c.56A>G	c.(55-57)aAa>aGa	p.K19R		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	19	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				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.K19R(2)|p.Q18*(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)		GCTCTTCAGAAAATTCAAGAG	0.428													G	214787153	A	G	214787153	3	3	4	1	0	0	0	0	1	0	0	0	3231	14	1	4	58	4	CENPF	1	214787153	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	33815343	214787153	34463468	8	197											
OBSCN	84033	broad.mit.edu	37	1	228504460	228504460	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:228504460G>A	uc009xez.1	+	50	13380	c.13336G>A	c.(13336-13338)Ggc>Agc	p.G4446S	OBSCN_uc001hsn.3_Missense_Mutation_p.G4446S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4446	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCCGGGCCGGCGCACAGGC	0.672													A	228504460	G	A	228504460	3	1	4	1	0	0	0	0	1	0	0	0	10812	1116	39	2	13534	2	OBSCN	1	228504460	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	13717307	228504460	20746161	9	198											
OR2L13	284521	broad.mit.edu	37	1	248263034	248263034	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:248263034C>T	uc001ids.3	+	2	694	c.357C>T	c.(355-357)taC>taT	p.Y119Y	OR2L13_uc021pmc.1_Silent_p.Y119Y	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.Y119Y(3)|p.A118E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CCATGGCCTACGACCGTTATT	0.512													T	248263034	C	T	248263034	2	4	4	1	0	0	0	0	0	0	0	1	11006	547	19	1		1	OR2L13	1	248263034	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	19758574	248263034	987587	10	199											
IL1RN	3557	broad.mit.edu	37	2	113890330	113890330	+	Missense_Mutation	SNP	C	C	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:113890330C>A	uc002tjb.3	+	3	480	c.416C>A	c.(415-417)gCc>gAc	p.A139D	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.A142D|IL1RN_uc002tiy.3_Missense_Mutation_p.A105D|IL1RN_uc002tja.3_Missense_Mutation_p.A121D	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	139					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TTTGAGTCTGCCGCCTGCCCC	0.572									Lichen Sclerosis et Atrophicus, Familial Clustering of				A	113890330	C	A	113890330	3	1	4	1	0	0	0	0	1	0	0	0	7665	739	26	5	511	5	IL1RN	2	113890330	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		113890330	129309043	11	200											
PPIG	9360	broad.mit.edu	37	2	170494029	170494029	+	Missense_Mutation	SNP	G	G	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:170494029G>C	uc002uez.3	+	13	2481	c.2261G>C	c.(2260-2262)gGa>gCa	p.G754A	PPIG_uc010fpx.3_Missense_Mutation_p.G739A|PPIG_uc010fpy.3_Missense_Mutation_p.G747A|PPIG_uc002ufb.3_Missense_Mutation_p.G754A|PPIG_uc002ufd.3_Missense_Mutation_p.G751A	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	754					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAAAAGCGGATGAGTGAGT	0.313													C	170494029	G	C	170494029	3	2	4	1	0	0	0	0	1	0	0	0	12324	1174	41	5	2307	5	PPIG	2	170494029	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	56603699	170494029	72705344	12	201											
TTN	7273	broad.mit.edu	37	2	179412263	179412263	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:179412263T>C	uc021vsy.1	-	287	86611	c.86386A>G	c.(86386-86388)Aag>Gag	p.K28796E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K22491E|TTN_uc021vta.1_Missense_Mutation_p.K22424E|TTN_uc021vtb.1_Missense_Mutation_p.K22299E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29723	Fibronectin type-III 110.						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)			TGAGTGCGCTTGACACTGGAA	0.413													C	179412263	T	C	179412263	3	2	4	1	0	0	0	0	1	0	0	0	16732	1821	63	4	13985	4	TTN	2	179412263	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	8918234	179412263	63787110	13	202											
COL6A3	1293	broad.mit.edu	37	2	238275663	238275663	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:238275663G>A	uc002vwl.2	-	10	5452	c.5167C>T	c.(5167-5169)Ctt>Ttt	p.L1723F	COL6A3_uc002vwo.2_Missense_Mutation_p.L1517F|COL6A3_uc010znj.1_Missense_Mutation_p.L1116F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1723	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.L1723I(2)		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)		AGGTGCTCAAGGCCCACCTTA	0.547													A	238275663	G	A	238275663	3	1	4	1	0	0	0	0	1	0	0	0	3701	1000	35	3	4502	3	COL6A3	2	238275663	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	58863400	238275663	4923710	14	203											
ITPR1	3708	broad.mit.edu	37	3	4816936	4816936	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr3:4816936G>A	uc003bqc.3	+	45	6295	c.5945G>A	c.(5944-5946)cGt>cAt	p.R1982H	ITPR1_uc021wsi.1_Missense_Mutation_p.R1949H|ITPR1_uc021wsj.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1997					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.L1982L(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACTTCCTCCGTTGCCAAAAT	0.483													A	4816936	G	A	4816936	3	1	4	1	0	0	0	0	1	0	0	0	7920	1145	40	1	6168	1	ITPR1	3	4816936	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		4816936	193205494	15	204											
FGD5	152273	broad.mit.edu	37	3	14905722	14905722	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr3:14905722G>A	uc003bzc.3	+	1	2723	c.2613G>A	c.(2611-2613)tcG>tcA	p.S871S	FGD5_uc011avk.2_Silent_p.S871S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	871					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAGAAGCTCGGAGGAGGAGG	0.597													A	14905722	G	A	14905722	2	1	4	1	0	0	0	0	0	0	0	1	5836	1103	39	2		2	FGD5	3	14905722	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	10088786	14905722	183116708	16	205											
CTBP1	1487	broad.mit.edu	37	4	1209830	1209830	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:1209830G>A	uc003gcw.3	-	4	876	c.711C>T	c.(709-711)tgC>tgT	p.C237C	AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.C226C|CTBP1_uc003gcv.1_Silent_p.C237C	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	237					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CGTTGAGGCCGCAGTGCAGGG	0.637													A	1209830	G	A	1209830	2	1	4	1	0	0	0	0	0	0	0	1	3997	1079	38	1		1	CTBP1	4	1209830	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08		1209830	189944446	17	206											
HGFAC	3083	broad.mit.edu	37	4	3449235	3449235	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:3449235G>A	uc003ghc.3	+	10	1375	c.1372G>A	c.(1372-1374)Gtc>Atc	p.V458I	HGFAC_uc010icw.3_Missense_Mutation_p.V465I	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	458	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGGGACAGCGTCTCCGTGGT	0.667													A	3449235	G	A	3449235	3	1	4	1	0	0	0	0	1	0	0	0	7086	1145	40	1	1414	1	HGFAC	4	3449235	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	2239405	3449235	187705041	18	207											
ADRA2C	152	broad.mit.edu	37	4	3769412	3769412	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:3769412G>A	uc003ghm.3	+	0	1117	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	360					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	p.R360Q(2)|p.R360L(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTGTCGCGCCGGCGCCGGGCG	0.746													A	3769412	G	A	3769412	3	1	4	1	0	0	0	0	1	0	0	0	339	1116	39	2	1081	2	ADRA2C	4	3769412	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	320177	3769412	187384864	19	208											
AFM	173	broad.mit.edu	37	4	74354406	74354406	+	Missense_Mutation	SNP	T	T	C	rs139224995	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:74354406T>C	uc003hhb.3	+	6	804	c.773T>C	c.(772-774)cTt>cCt	p.L258P		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	258	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTATTTCTCTTGTAGAAGAT	0.353													C	74354406	T	C	74354406	3	2	4	1	0	0	0	0	1	0	0	0	361	1609	56	4	799	4	AFM	4	74354406	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	70584994	74354406	116799870	20	209											
FAT4	79633	broad.mit.edu	37	4	126373451	126373451	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:126373451G>A	uc003ifj.4	+	8	11280	c.11280G>A	c.(11278-11280)acG>acA	p.T3760T	FAT4_uc011cgp.2_Silent_p.T2058T|FAT4_uc003ifi.1_Silent_p.T1238T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3760					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						ACAATAGAACGTTTCTTTTGG	0.453													A	126373451	G	A	126373451	2	1	4	1	0	0	0	0	0	0	0	1	5692	1132	40	1		1	FAT4	4	126373451	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	52019045	126373451	64780825	21	210											
ENPP6	133121	broad.mit.edu	37	4	185074883	185074883	+	Missense_Mutation	SNP	C	C	T	rs142786439		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:185074883C>T	uc003iwc.3	-	1	387	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	82					lipid catabolic process	extracellular region|integral to membrane|plasma membrane		p.R82H(2)|p.R82C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTCACAATGGCGGCCTATGTC	0.453													T	185074883	C	T	185074883	3	4	4	1	0	0	0	0	1	0	0	0	5134	768	27	1	1105	1	ENPP6	4	185074883	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	58701432	185074883	6079393	22	211											
PLEKHG4B	153478	broad.mit.edu	37	5	163558	163558	+	Missense_Mutation	SNP	C	C	T	rs148435989		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:163558C>T	uc003jak.2	+	10	2353	c.2303C>T	c.(2302-2304)cCg>cTg	p.P768L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	768					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			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)		AAGAAGCTCCCGCTGTGGCAG	0.652													T	163558	C	T	163558	3	4	4	1	0	0	0	0	1	0	0	0	12072	652	23	2	2345	2	PLEKHG4B	5	163558	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		163558	180751702	23	212											
IPO11	51194	broad.mit.edu	37	5	61887491	61887491	+	Silent	SNP	T	T	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:61887491T>A	uc011cqr.2	+	27	2920	c.2790T>A	c.(2788-2790)acT>acA	p.T930T	IPO11_uc003jtc.3_Silent_p.T890T|IPO11_uc003jte.3_Silent_p.T9T	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	890						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAACAGGAACTTATAAAGAGT	0.338													A	61887491	T	A	61887491	2	1	4	1	0	0	0	0	0	0	0	1	7793	1596	56	5		5	IPO11	5	61887491	Silent	SNP	T	TCGA-02-0055-01A-01D-1490-08	61723933	61887491	119027769	24	213											
SLC27A6	28965	broad.mit.edu	37	5	128301930	128301930	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:128301930G>A	uc003kuy.3	+	1	496	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	SLC27A6_uc003kuz.3_Missense_Mutation_p.V34M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	34					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTTCTGGTTCGTGTTGAAGGT	0.463													A	128301930	G	A	128301930	3	1	4	1	0	0	0	0	1	0	0	0	14530	1145	40	1	102	1	SLC27A6	5	128301930	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	66414439	128301930	52613330	25	214											
PCDHGC5	56114	broad.mit.edu	37	5	140712400	140712400	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:140712400C>T	uc003lji.2	+	0	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGC5_uc011dan.2_Missense_Mutation_p.R717W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	718					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C716*(1)		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)			GCACAGGCTGCGGCGCTGGCA	0.657													T	140712400	C	T	140712400	3	4	4	1	0	0	0	0	1	0	0	0	11571	759	27	1		1	PCDHGC5	5	140712400	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	12410470	140712400	40202860	26	215											
FAM153C	653316	broad.mit.edu	37	5	177466410	177466410	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:177466410G>A	uc011dge.2	+	5	338	c.131G>A	c.(130-132)cGt>cAt	p.R44H						Homo sapiens family with sequence similarity 153, member C (FAM153C), non-coding RNA.											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GTTCCACAACGTGGTACGTAT	0.478													A	177466410	G	A	177466410	3	1	4	1	0	0	0	0	1	0	0	0	5462	1145	40	1	145	1	FAM153C	5	177466410	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	36754010	177466410	3448850	27	216											
ZC3H12D	340152	broad.mit.edu	37	6	149795611	149795611	+	Silent	SNP	C	C	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr6:149795611C>A	uc010kid.3	-	1	339	c.69G>T	c.(67-69)gtG>gtT	p.V23V	ZC3H12D_uc003qmn.1_Silent_p.V23V	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	23						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GCTTGCCCAACACCCGGAGCA	0.677													A	149795611	C	A	149795611	2	1	4	1	0	0	0	0	0	0	0	1	17561	465	17	5		5	ZC3H12D	6	149795611	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08		149795611	21319456	28	217											
CYCS	54205	broad.mit.edu	37	7	25163649	25163649	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:25163649C>T	uc003sxl.3	-	1	260	c.90G>A	c.(88-90)ggG>ggA	p.G30G		NM_018947	NP_061820	P99999	CYC_HUMAN	Homo sapiens cytochrome c, somatic (CYCS), nuclear gene encoding mitochondrial protein, mRNA.	30					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	GGAGATTTGGCCCAGTCTTGT	0.443													T	25163649	C	T	25163649	2	4	4	1	0	0	0	0	0	0	0	1	4136	726	26	3		3	CYCS	7	25163649	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08		25163649	133975014	29	218											
JHDM1D	80853	broad.mit.edu	37	7	139824534	139824534	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:139824534C>T	uc003vvm.3	-	6	942	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	313	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGATTCATAACGTGCCAAATT	0.358													T	139824534	C	T	139824534	3	4	4	1	0	0	0	0	1	0	0	0	7948	536	19	1	1943	1	JHDM1D	7	139824534	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	114660885	139824534	19314129	30	219											
OR2A2	442361	broad.mit.edu	37	7	143807248	143807248	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:143807248C>T	uc011ktz.2	+	0	573	c.573C>T	c.(571-573)acC>acT	p.T191T		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTGCTGACACCTGGGTTAACC	0.512													T	143807248	C	T	143807248	2	4	4	1	0	0	0	0	0	0	0	1	10977	668	24	3		3	OR2A2	7	143807248	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	3982714	143807248	15331415	31	220											
PLAG1	5324	broad.mit.edu	37	8	57079222	57079222	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr8:57079222C>T	uc003xsq.4	-	2	1534	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	PLAG1_uc003xsr.4_Missense_Mutation_p.M361I|PLAG1_uc010lyi.3_Missense_Mutation_p.M361I|PLAG1_uc010lyj.3_Missense_Mutation_p.M279I|PLAG1_uc022aur.1_Missense_Mutation_p.M279I	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	361	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M361I(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTTGTAACTCCATCAGGTAAC	0.438			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								T	57079222	C	T	57079222	3	4	4	1	0	0	0	0	1	0	0	0	12018	594	21	3	423	3	PLAG1	8	57079222	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		57079222	89284800	32	221											
MATN2	4147	broad.mit.edu	37	8	99044505	99044505	+	Silent	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr8:99044505T>C	uc003yic.3	+	15	2772	c.2541T>C	c.(2539-2541)tcT>tcC	p.S847S	MATN2_uc010mbh.1_Silent_p.S806S|MATN2_uc003yid.3_Silent_p.S847S|MATN2_uc003yie.1_Silent_p.S847S|MATN2_uc010mbi.1_Silent_p.S680S|RPL30_uc010mbk.2_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	847						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACAGGACTCTCCAGCAGGGG	0.473													C	99044505	T	C	99044505	2	2	4	1	0	0	0	0	0	0	0	1	9334	1538	54	4		4	MATN2	8	99044505	Silent	SNP	T	TCGA-02-0055-01A-01D-1490-08	41965283	99044505	47319517	33	222											
ARMC3	219681	broad.mit.edu	37	10	23250972	23250972	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:23250972G>A	uc001irm.4	+	6	780	c.697G>A	c.(697-699)Gga>Aga	p.G233R	ARMC3_uc010qcv.2_Missense_Mutation_p.G233R|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	233							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGACAATCAAGGATTGGACCA	0.358													A	23250972	G	A	23250972	3	1	4	1	0	0	0	0	1	0	0	0	952	1001	35	3	719	3	ARMC3	10	23250972	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		23250972	112283775	34	223											
ZNF248	57209	broad.mit.edu	37	10	38126948	38126948	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:38126948A>G	uc001izd.1	-	3	606	c.107T>C	c.(106-108)gTg>gCg	p.V36A	ZNF248_uc009xmc.2_Missense_Mutation_p.V36A|ZNF248_uc001izb.3_Non-coding_Transcript|ZNF248_uc001izc.3_Missense_Mutation_p.V36A|ZNF248_uc010qeu.1_Missense_Mutation_p.V36A	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTCCAGGATCACATCTCTGTA	0.413													G	38126948	A	G	38126948	3	3	4	1	0	0	0	0	1	0	0	0	17790	159	6	4	1644	4	ZNF248	10	38126948	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	14875976	38126948	97407799	35	224											
PTEN	5728	broad.mit.edu	37	10	89692907	89692907	+	Missense_Mutation	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:89692907A>G	uc001kfb.3	+	4	1423	c.391A>G	c.(391-393)Act>Gct	p.T131A	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	131	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(110)|p.R130*(72)|p.R130Q(68)|p.0?(37)|p.R130fs*4(15)|p.R130L(13)|p.R130P(7)|p.K128_R130del(7)|p.T131fs*3(6)|p.?(5)|p.R55fs*1(5)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.T131A(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.T131P(2)|p.T131I(1)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.R130?(1)|p.T131N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGGGACGAACTGGTGTAAT	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89692907	A	G	89692907	3	3	4	1	0	0	0	0	1	0	0	0	12738	43	2	4	409	4	PTEN	10	89692907	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	51565959	89692907	45841840	36	225											
PHRF1	57661	broad.mit.edu	37	11	608380	608380	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:608380A>T	uc001lqe.3	+	13	3055	c.2924A>T	c.(2923-2925)gAc>gTc	p.D975V	PHRF1_uc010qwc.2_Missense_Mutation_p.D974V|PHRF1_uc010qwd.2_Missense_Mutation_p.D973V|PHRF1_uc010qwe.2_Missense_Mutation_p.D971V|PHRF1_uc009ybz.1_Missense_Mutation_p.D765V|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	975							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCAGCCCGGACGTGCTGCAG	0.657													T	608380	A	T	608380	3	4	4	1	0	0	0	0	1	0	0	0	11861	275	10	5	2971	5	PHRF1	11	608380	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08		608380	134398136	37	226											
OR51D1	390038	broad.mit.edu	37	11	4661587	4661587	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:4661587C>T	uc010qyk.2	+	0	643	c.567C>T	c.(565-567)caC>caT	p.H189H		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCACACACTCCTTCTGTC	0.483													T	4661587	C	T	4661587	2	4	4	1	0	0	0	0	0	0	0	1	11093	564	20	3		3	OR51D1	11	4661587	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	4053207	4661587	130344929	38	227											
PICALM	8301	broad.mit.edu	37	11	85733503	85733503	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:85733503A>T	uc001pbm.3	-	3	676	c.359T>A	c.(358-360)aTg>aAg	p.M120K	PICALM_uc001pbl.3_Missense_Mutation_p.M120K|PICALM_uc001pbn.3_Missense_Mutation_p.M120K|PICALM_uc010rtl.2_Missense_Mutation_p.M69K	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	120	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AAATGTAGACATGTCATATCC	0.303			T	"MLLT10, MLL"	"TALL, AML, "								T	85733503	A	T	85733503	3	4	4	1	0	0	0	0	1	0	0	0	11880	217	8	5	1695	5	PICALM	11	85733503	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	81071916	85733503	49273013	39	228											
ANO2	57101	broad.mit.edu	37	12	5842030	5842030	+	Splice_Site	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:5842030A>G	uc001qnm.2	-	14	1506	c.1434_splice	c.e14+1	p.Q478_splice		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	483						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGAAAACCAAACCTGGGCACG	0.483													G	5842030	A	G	5842030	5	3	4	1	0	0	0	0	0	0	1	0	697	57	2	4	1612	4	ANO2	12	5842030	Splice_Site	SNP	A	TCGA-02-0055-01A-01D-1490-08		5842030	128009865	40	229											
GPR162	10536	broad.mit.edu	37	12	6946911	6946911	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:6946911G>A	uc001qra.1	+	12	1758	c.1724G>A	c.(1723-1725)cGc>cAc	p.R575H	GPR162_uc001qrb.1_Missense_Mutation_p.R383H|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAAGAGCAGCGCATGGACCTG	0.652													A	6946911	G	A	6946911	3	1	4	1	0	0	0	0	1	0	0	0	6666	1087	38	1		1	GPR162	12	6946911	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	1104881	6946911	126904984	41	230											
NOS1	4842	broad.mit.edu	37	12	117768967	117768967	+	Translation_Start_Site	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:117768967C>T	uc001twn.2	-	1					NOS1_uc001twm.2_5'UTR	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.						multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCAGGCTACACGGAGAGCAGG	0.582													T	117768967	C	T	117768967	1	4	4	1	0	0	0	0	0	0	0	0	10541	551	19	1		1	NOS1	12	117768967	Translation_Start_Site	SNP	C	TCGA-02-0055-01A-01D-1490-08	110822056	117768967	16082928	42	231											
UBC	7316	broad.mit.edu	37	12	125397201	125397201	+	Missense_Mutation	SNP	G	G	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:125397201G>T	uc001ugs.4	-	1	1575	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Missense_Mutation_p.L373M|UBC_uc001ugu.1_Missense_Mutation_p.L373M|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.L373M	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	373	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CGGAGCACCAGGTGCAAGGTG	0.532													T	125397201	G	T	125397201	3	4	4	1	0	0	0	0	1	0	0	0	16839	991	35	5	944	5	UBC	12	125397201	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	7628234	125397201	8454694	43	232											
OCA2	4948	broad.mit.edu	37	15	28202861	28202861	+	Missense_Mutation	SNP	C	C	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:28202861C>G	uc001zbh.4	-	15	1767	c.1657G>C	c.(1657-1659)Gtc>Ctc	p.V553L	OCA2_uc010ayv.3_Missense_Mutation_p.V529L	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	553					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.V553I(2)|p.H552H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGCGCCAGACGTGAATCTCG	0.617									Oculocutaneous Albinism				G	28202861	C	G	28202861	3	3	4	1	0	0	0	0	1	0	0	0	10815	536	19	5	895	5	OCA2	15	28202861	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		28202861	74328531	44	233											
TRPM1	4308	broad.mit.edu	37	15	31342763	31342763	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:31342763G>A	uc021sia.1	-	10	1651	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	TRPM1_uc010azy.3_Missense_Mutation_p.P314L|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P429L|TRPM1_uc001zfm.3_Missense_Mutation_p.P407L	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	407					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			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)		GCTGTCCGTCGGGGGTGCCAG	0.557													A	31342763	G	A	31342763	3	1	4	1	0	0	0	0	1	0	0	0	16582	1116	39	2	3659	2	TRPM1	15	31342763	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	3139902	31342763	71188629	45	234											
EXD1	161829	broad.mit.edu	37	15	41483752	41483752	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:41483752G>A	uc010ucv.2	-	9	1024	c.752C>T	c.(751-753)aCg>aTg	p.T251M	EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Missense_Mutation_p.T193M	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	193					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATAGCCACCCGTTTCCATGGA	0.383													A	41483752	G	A	41483752	3	1	4	1	0	0	0	0	1	0	0	0	5297	1145	40	1	978	1	EXD1	15	41483752	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	10140989	41483752	61047640	46	235											
SPG11	80208	broad.mit.edu	37	15	44876437	44876437	+	Missense_Mutation	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:44876437T>C	uc001ztx.3	-	29	5472	c.5441A>G	c.(5440-5442)aAt>aGt	p.N1814S	SPG11_uc010bdw.3_Missense_Mutation_p.N103S|SPG11_uc010ueh.2_Missense_Mutation_p.N1814S|SPG11_uc010uei.2_Missense_Mutation_p.N1814S|SPG11_uc001zty.1_Missense_Mutation_p.N543S	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1814					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTCCTCCTGATTTCTTCCAAG	0.512													C	44876437	T	C	44876437	3	2	4	1	0	0	0	0	1	0	0	0	15040	1493	52	4	1934	4	SPG11	15	44876437	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	3392685	44876437	57654955	47	236											
SEMA6D	80031	broad.mit.edu	37	15	48056239	48056239	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:48056239G>A	uc010bek.3	+	9	1300	c.940G>A	c.(940-942)Ggg>Agg	p.G314R	SEMA6D_uc001zvw.3_Missense_Mutation_p.G314R|SEMA6D_uc001zvx.1_Missense_Mutation_p.G314R|SEMA6D_uc001zvy.3_Missense_Mutation_p.G314R|SEMA6D_uc001zvz.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwa.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwb.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwc.3_Missense_Mutation_p.G314R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	314	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			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)		CACTGTGGTCGGGGTGTTTAC	0.483													A	48056239	G	A	48056239	3	1	4	1	0	0	0	0	1	0	0	0	14042	1116	39	2	974	2	SEMA6D	15	48056239	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	3179802	48056239	54475153	48	237											
ALDH1A2	8854	broad.mit.edu	37	15	58253017	58253017	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:58253017C>T	uc002aex.3	-	11	1708	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	ALDH1A2_uc010ugv.2_Missense_Mutation_p.A458T|ALDH1A2_uc002aey.3_Missense_Mutation_p.A441T|ALDH1A2_uc010ugw.2_Missense_Mutation_p.A450T|ALDH1A2_uc002aew.3_Missense_Mutation_p.A383T	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	479					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			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)	GGGCTCTGGGCATTTAAGGCA	0.408													T	58253017	C	T	58253017	3	4	4	1	0	0	0	0	1	0	0	0	491	710	25	3	129	3	ALDH1A2	15	58253017	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	10196778	58253017	44278375	49	238											
CLDN6	9074	broad.mit.edu	37	16	3065604	3065604	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:3065604G>A	uc021tbb.1	-	0	419	c.419C>T	c.(418-420)gCg>gTg	p.A140V	CLDN6_uc002csu.4_Missense_Mutation_p.A140V	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	140					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GATGGCATGCGCCGTCCAGCA	0.622													A	3065604	G	A	3065604	3	1	4	1	0	0	0	0	1	0	0	0	3489	1087	38	1	247	1	CLDN6	16	3065604	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		3065604	87289149	50	239											
SCNN1B	6338	broad.mit.edu	37	16	23360038	23360038	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:23360038C>T	uc002dln.3	+	1	294	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	40					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGGCCCCAAGCGCATCATCTG	0.622													T	23360038	C	T	23360038	3	4	4	1	0	0	0	0	1	0	0	0	13928	768	27	1	120	1	SCNN1B	16	23360038	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	20294434	23360038	66994715	51	240											
ITGAD	3681	broad.mit.edu	37	16	31422517	31422517	+	Missense_Mutation	SNP	G	G	A	rs147338780		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:31422517G>A	uc010cap.1	+	12	1526	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	ITGAD_uc002ebv.1_Missense_Mutation_p.V493M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	493					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			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						CCAGGTGTCCGTGTGTCCCTT	0.632													A	31422517	G	A	31422517	3	1	4	1	0	0	0	0	1	0	0	0	7884	1145	40	1	1527	1	ITGAD	16	31422517	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	8062479	31422517	58932236	52	241											
WDR59	79726	broad.mit.edu	37	16	74976699	74976699	+	Missense_Mutation	SNP	A	A	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:74976699A>T	uc002fdh.1	-	6	573	c.471T>A	c.(469-471)aaT>aaA	p.N157K	WDR59_uc002fdi.3_Missense_Mutation_p.N157K|WDR59_uc021tli.1_Missense_Mutation_p.N136K	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	157										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATTTTTTTTATTCCATTTGA	0.502													T	74976699	A	T	74976699	3	4	4	1	0	0	0	0	1	0	0	0	17305	446	16	5	2533	5	WDR59	16	74976699	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	43554182	74976699	15378054	53	242											
KCNG4	93107	broad.mit.edu	37	16	84270708	84270708	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:84270708C>T	uc010voc.2	-	1	505	c.384G>A	c.(382-384)gcG>gcA	p.A128A	KCNG4_uc002fhu.1_Silent_p.A128A	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	128						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCTTCCCGGCCGCCAGGAAGC	0.637													T	84270708	C	T	84270708	2	4	4	1	0	0	0	0	0	0	0	1	8030	639	23	2		2	KCNG4	16	84270708	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	9294009	84270708	6084045	54	243											
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr17:7578203C>T	uc002gim.2	-	5	840	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(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)		GGCACCACCACACTATGTCGA	0.537		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)			T	7578203	C	T	7578203	3	4	4	1	0	0	0	0	1	0	0	0	16378	478	17	3	648	3	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		7578203	73617007	55	244											
MGAT5B	146664	broad.mit.edu	37	17	74936837	74936837	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr17:74936837G>A	uc002jti.3	+	12	1885	c.1782G>A	c.(1780-1782)gcG>gcA	p.A594A	MGAT5B_uc002jth.3_Silent_p.A583A	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	585						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCCTACGCGGAGAACTTCA	0.552													A	74936837	G	A	74936837	2	1	4	1	0	0	0	0	0	0	0	1	9549	1103	39	2		2	MGAT5B	17	74936837	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	67358634	74936837	6258373	56	245											
PAPL	390928	broad.mit.edu	37	19	39597641	39597641	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:39597641G>A	uc002oki.3	+	11	1442	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	PAPL_uc010egl.3_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	390						extracellular region	acid phosphatase activity|metal ion binding										CTGGAGTGCCGTGCGTGTGAA	0.652													A	39597641	G	A	39597641	3	1	4	1	0	0	0	0	1	0	0	0	11427	1145	40	1	1210	1	PAPL	19	39597641	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		39597641	19531342	57	246											
PSG3	5669	broad.mit.edu	37	19	43376198	43376198	+	Splice_Site	SNP	C	C	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:43376198C>A	uc002ovd.1	-	3	569	c.431_splice	c.e3-1	p.L144_splice	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Splice_Site_p.L144_splice|PSG3_uc002oun.3_Splice_Site|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Splice_Site_p.L144_splice|PSG3_uc002ovb.3_Splice_Site_p.L144_splice	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	144	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGAGTCTCCACTGTGCAGAAA	0.527													A	43376198	C	A	43376198	5	1	4	1	0	0	0	0	0	0	1	0	12656	579	20	5		5	PSG3	19	43376198	Splice_Site	SNP	C	TCGA-02-0055-01A-01D-1490-08	3778557	43376198	15752785	58	247											
BTBD3	22903	broad.mit.edu	37	20	11900455	11900455	+	Silent	SNP	C	C	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:11900455C>G	uc002wnz.3	+	2	866	c.507C>G	c.(505-507)gtC>gtG	p.V169V	BTBD3_uc002wny.3_Silent_p.V108V|BTBD3_uc002woa.3_Silent_p.V108V|BTBD3_uc010zrf.2_Silent_p.V18V|BTBD3_uc010zrg.2_Silent_p.V18V|BTBD3_uc010zrh.2_Silent_p.V18V	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	169	BTB.									breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TACCAGATGTCGAACCTGCTG	0.418													G	11900455	C	G	11900455	2	3	4	1	0	0	0	0	0	0	0	1	1544	871	31	5		5	BTBD3	20	11900455	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08		11900455	51125065	59	248											
DEFB118	117285	broad.mit.edu	37	20	29960755	29960755	+	Nonsense_Mutation	SNP	C	C	T	rs34328728		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:29960755C>T	uc002wvr.3	+	1	187	c.154C>T	c.(154-156)Cga>Tga	p.R52*		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	52					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAAAAATCTTCGAGCTTGCTG	0.438													T	29960755	C	T	29960755	4	4	4	1	0	0	0	0	0	1	0	0	4406	876	31	2	160	2	DEFB118	20	29960755	Nonsense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	18060300	29960755	33064765	60	249											
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:31022345C>T	uc021wbw.1	+	12	2262	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"F, N, Mis"		"MDS, CMML"								T	31022345	C	T	31022345	2	4	4	1	0	0	0	0	0	0	0	1	1066	755	27	1		1	ASXL1	20	31022345	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	1061590	31022345	32003175	61	250											
DLGAP4	22839	broad.mit.edu	37	20	35075140	35075140	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:35075140G>A	uc002xff.3	+	6	1883	c.1448G>A	c.(1447-1449)tGc>tAc	p.C483Y	DLGAP4_uc010zvp.2_Missense_Mutation_p.C483Y	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	483					cell-cell signaling	membrane	protein binding			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)				GAGGCGGCCTGCGAGTCAGCC	0.647													A	35075140	G	A	35075140	3	1	4	1	0	0	0	0	1	0	0	0	4562	1319	46	3	1466	3	DLGAP4	20	35075140	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	4052795	35075140	27950380	62	251											
KRTAP19-3	337970	broad.mit.edu	37	21	31864264	31864264	+	Silent	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr21:31864264G>A	uc002yog.1	-	0	12	c.12C>T	c.(10-12)taC>taT	p.Y4Y		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	Homo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA.	4						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AGTAGCTGCCGTAGTAGCTCA	0.547													A	31864264	G	A	31864264	2	1	4	1	0	0	0	0	0	0	0	1	8530	1140	40	1		1	KRTAP19-3	21	31864264	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08		31864264	16265631	63	252											
TPST2	8459	broad.mit.edu	37	22	26937269	26937269	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr22:26937269G>A	uc003acw.3	-	2	669	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	TPST2_uc003acx.3_Missense_Mutation_p.R110C|TPST2_uc011akf.1_Missense_Mutation_p.R110C	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	110					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CAGGCCTGGCGCATGGCCAGC	0.697													A	26937269	G	A	26937269	3	1	4	1	0	0	0	0	1	0	0	0	16425	1087	38	1	821	1	TPST2	22	26937269	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		26937269	24367297	64	253											
P2RY8	286530	broad.mit.edu	37	X	1584470	1584470	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:1584470C>T	uc022brv.1	-	0	982	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.A328T	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				GTGGTCCTGGCGGAGAAGAGG	0.682			T	CRLF2	"B-ALL, Downs associated ALL"								T	1584470	C	T	1584470	3	4	4	1	0	0	0	0	1	0	0	0	11355	768	27	1	101	1	P2RY8	23	1584470	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		1584470	153686090	65	254											
GEMIN8	54960	broad.mit.edu	37	X	14027285	14027285	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:14027285C>T	uc004cwb.3	-	4	819	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	GEMIN8_uc004cwc.3_Missense_Mutation_p.R159Q|GEMIN8_uc004cwd.3_Missense_Mutation_p.R159Q	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.	159					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTGCTGCTGCCGCCCTGAGAA	0.582													T	14027285	C	T	14027285	3	4	4	1	0	0	0	0	1	0	0	0	6334	652	23	2	256	2	GEMIN8	23	14027285	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	12442815	14027285	141243275	66	255											
KLHL34	257240	broad.mit.edu	37	X	21674666	21674666	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:21674666G>A	uc004czz.1	-	0	1783	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	JA611288_uc022btu.1_5'Flank	NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	414										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGGGCCCGCGCTTCCCGCAT	0.721													A	21674666	G	A	21674666	3	1	4	1	0	0	0	0	1	0	0	0	8387	1087	38	1	697	1	KLHL34	23	21674666	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	7647381	21674666	133595894	67	256											
USP11	8237	broad.mit.edu	37	X	47102906	47102906	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:47102906C>T	uc004dhp.3	+	12	1824	c.1824C>T	c.(1822-1824)taC>taT	p.Y608Y	USP11_uc004dhq.3_Silent_p.Y335Y	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	608					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ACTCCTACTACGGCCTGATGC	0.592													T	47102906	C	T	47102906	2	4	4	1	0	0	0	0	0	0	0	1	17039	547	19	1		1	USP11	23	47102906	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	25428240	47102906	108167654	68	257											
ZNF81	347344	broad.mit.edu	37	X	47775654	47775654	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:47775654G>A	uc022bvq.1	+	4	1858	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	ZNF81_uc010nhy.2_Missense_Mutation_p.D537N	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	537						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGCCTTCACCGACAGGTCAAA	0.443													A	47775654	G	A	47775654	3	1	4	1	0	0	0	0	1	0	0	0	18171	1058	37	2	1623	2	ZNF81	23	47775654	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	672748	47775654	107494906	69	258											
ERCC6L	54821	broad.mit.edu	37	X	71424939	71424939	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:71424939C>T	uc004eaq.1	-	1	3775	c.3678G>A	c.(3676-3678)gcG>gcA	p.A1226A	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.A1103A	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	1226					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTATGTCAAGCGCTTTAACTA	0.363													T	71424939	C	T	71424939	2	4	4	1	0	0	0	0	0	0	0	1	5218	755	27	1		1	ERCC6L	23	71424939	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	23649285	71424939	83845621	70	259											
TBX22	50945	broad.mit.edu	37	X	79286010	79286010	+	Silent	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:79286010C>T	uc010nmg.1	+	8	1097	c.963C>T	c.(961-963)ggC>ggT	p.G321G	TBX22_uc004edi.1_Silent_p.G201G|TBX22_uc004edj.1_Silent_p.G321G	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	321					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAGCAGTGGCTCATCTCCAG	0.433													T	79286010	C	T	79286010	2	4	4	1	0	0	0	0	0	0	0	1	15655	784	28	3		3	TBX22	23	79286010	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	7861071	79286010	75984550	71	260											
H2BFWT	158983	broad.mit.edu	37	X	103267902	103267902	+	Missense_Mutation	SNP	G	G	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:103267902G>A	uc004elr.3	-	0	355	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	111					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AATATGTCATGAACCAAAGAA	0.637													A	103267902	G	A	103267902	3	1	4	1	0	0	0	0	1	0	0	0	6932	1290	45	3	204	3	H2BFWT	23	103267902	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	23981892	103267902	52002658	72	261											
FAM70A	55026	broad.mit.edu	37	X	119394752	119394752	+	Silent	SNP	A	A	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:119394752A>G	uc004eso.4	-	9	1250	c.1023T>C	c.(1021-1023)ttT>ttC	p.F341F	FAM70A_uc004esp.4_Silent_p.F317F|FAM70A_uc010nqo.3_Silent_p.F233F	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	341	Pro-rich.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						GTGGCTTTTCAAAAGGTGGAT	0.507													G	119394752	A	G	119394752	2	3	4	1	0	0	0	0	0	0	0	1	5605	127	5	4		4	FAM70A	23	119394752	Silent	SNP	A	TCGA-02-0055-01A-01D-1490-08	16126850	119394752	35875808	73	262											
FAM45A	55855	broad.mit.edu	37	X	129629140	129629140	+	Missense_Mutation	SNP	C	C	T			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:129629140C>T	uc010nrh.3	+	0	226	c.8C>T	c.(7-9)gCg>gTg	p.A3V	BC043223_uc004evu.3_Non-coding_Transcript	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	3								p.A3E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AAGATGGCTGCGGCCGAGTTG	0.542													T	129629140	C	T	129629140	3	4	4	1	0	0	0	0	1	0	0	0	5564	783	27	1		1	FAM45A	23	129629140	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	10234388	129629140	25641420	74	263											
F9	2158	broad.mit.edu	37	X	138623341	138623341	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:138623341T>G	uc004fas.1	+	3	413	c.384T>G	c.(382-384)tgT>tgG	p.C128W	F9_uc004fat.1_Intron	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	128	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GAAAGAACTGTGAATTAGGTA	0.348													G	138623341	T	G	138623341	3	3	4	1	0	0	0	0	1	0	0	0	5351	1702	59	5	398	5	F9	23	138623341	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	8994201	138623341	16647219	75	264											
GABRA3	2556	broad.mit.edu	37	X	151336828	151336828	+	Missense_Mutation	SNP	T	T	A			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:151336828T>A	uc010ntk.1	-	9	1591	c.1351A>T	c.(1351-1353)Agt>Tgt	p.S451C		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	451					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGCTGACACTGTTGTAGGTC	0.527													A	151336828	T	A	151336828	3	1	4	1	0	0	0	0	1	0	0	0	6162	1580	55	5	131	5	GABRA3	23	151336828	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	12713487	151336828	3933732	76	265											
CTAG2	30848	broad.mit.edu	37	X	153880614	153880614	+	Silent	SNP	T	T	C			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:153880614T>C	uc004fmi.2	-	1	625	c.561A>G	c.(559-561)ccA>ccG	p.P187P	CTAG2_uc004fmh.2_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	187	Poly-Pro.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCCTCGGGTGGCGGCGGGC	0.602													C	153880614	T	C	153880614	2	2	4	1	0	0	0	0	0	0	0	1	3991	1683	59	4		4	CTAG2	23	153880614	Silent	SNP	T	TCGA-02-0055-01A-01D-1490-08	2543786	153880614	1389946	77	266											
F8	2157	broad.mit.edu	37	X	154156957	154156957	+	Missense_Mutation	SNP	T	T	G			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:154156957T>G	uc004fmt.3	-	13	5279	c.5108A>C	c.(5107-5109)gAa>gCa	p.E1703A		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1703					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCTCTGATTTTCATCCTCATC	0.408													G	154156957	T	G	154156957	3	3	4	1	0	0	0	0	1	0	0	0	5350	1783	62	5	2027	5	F8	23	154156957	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	276343	154156957	1113603	78	267											
NKAIN1	79570	broad.mit.edu	37	1	31658176	31658176	+	Splice_Site	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:31658176T>C	uc010ogd.2	-	3	533	c.193_splice	c.e3-1	p.Y65_splice	NKAIN1_uc010ogc.2_Intron	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 1 (NKAIN1), mRNA.	65						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		GGCTGCATACTGGGGAAAGCA	0.587													C	31658176	T	C	31658176	5	2	5	1	0	0	0	0	0	0	1	0	10435	1594	55	4	452	4	NKAIN1	1	31658176	Splice_Site	SNP	T	TCGA-02-2470-01A-01D-1494-08		31658176	217592445	1	268											
KCNA2	3737	broad.mit.edu	37	1	111146955	111146955	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:111146955C>A	uc021oro.1	-	0	450	c.450G>T	c.(448-450)tgG>tgT	p.W150C	KCNA2_uc009wfv.2_Missense_Mutation_p.W150C|KCNA2_uc009wfw.3_Missense_Mutation_p.W150C	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	150						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			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)		CAAAGAGAAGCCACACTTGTC	0.473													A	111146955	C	A	111146955	3	1	5	1	0	0	0	0	1	0	0	0	8003	740	26	5	1053	5	KCNA2	1	111146955	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	79488779	111146955	138103666	2	269											
RYR2	6262	broad.mit.edu	37	1	237604722	237604722	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:237604722T>A	uc001hyl.1	+	12	1229	c.1109T>A	c.(1108-1110)cTa>cAa	p.L370Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	370	MIR 5.				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			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)			GACACAGGCCTATGGCTTACT	0.373													A	237604722	T	A	237604722	3	1	5	1	0	0	0	0	1	0	0	0	13769	1522	53	5	1159	5	RYR2	1	237604722	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	126457767	237604722	11645899	3	270											
TPO	7173	broad.mit.edu	37	2	1488428	1488428	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:1488428G>A	uc002qwr.3	+	8	1485	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.V467M|TPO_uc002qwx.3_Missense_Mutation_p.V467M|TPO_uc002qwu.3_Missense_Mutation_p.V467M|TPO_uc010yio.2_Missense_Mutation_p.V294M|TPO_uc010yip.2_Missense_Mutation_p.V467M|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	467					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAGCAGTACGTGGGTCCCTA	0.587													A	1488428	G	A	1488428	3	1	5	1	0	0	0	0	1	0	0	0	16407	1145	40	1	1429	1	TPO	2	1488428	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		1488428	241710945	4	271											
EMILIN1	11117	broad.mit.edu	37	2	27303034	27303034	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:27303034C>T	uc002rii.4	+	1	685	c.186C>T	c.(184-186)taC>taT	p.Y62Y	EMILIN1_uc010eyq.2_Silent_p.Y62Y	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	62	EMI.				cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGTGCCTACGTGGTGACCC	0.592													T	27303034	C	T	27303034	2	4	5	1	0	0	0	0	0	0	0	1	5093	547	19	1		1	EMILIN1	2	27303034	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	25814606	27303034	215896339	5	272											
PSME4	23198	broad.mit.edu	37	2	54094006	54094006	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:54094006G>A	uc002rxp.2	-	44	5331	c.5275C>T	c.(5275-5277)Cgc>Tgc	p.R1759C	PSME4_uc010yop.1_Missense_Mutation_p.R1649C|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.R1134C|PSME4_uc010fbv.1_Missense_Mutation_p.R903C|PSME4_uc010fbt.1_Missense_Mutation_p.R194C	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1759					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCAGCATGGCGTTTGACCAAC	0.418													A	54094006	G	A	54094006	3	1	5	1	0	0	0	0	1	0	0	0	12709	1145	40	1	264	1	PSME4	2	54094006	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	26790972	54094006	189105367	6	273											
IL1R2	7850	broad.mit.edu	37	2	102638708	102638708	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:102638708C>T	uc002tbm.3	+	5	977	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	IL1R2_uc002tbn.3_Silent_p.L250L|IL1R2_uc002tbo.1_Silent_p.L250L	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	250	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.S249Y(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATCAGCTTCTCTGGGTAAGGC	0.507													T	102638708	C	T	102638708	2	4	5	1	0	0	0	0	0	0	0	1	7659	912	32	3		3	IL1R2	2	102638708	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	48544702	102638708	140560665	7	274											
SLC5A7	60482	broad.mit.edu	37	2	108609520	108609520	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:108609520C>A	uc002tdv.3	+	3	661	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.L129I|SLC5A7_uc010ywn.2_Missense_Mutation_p.L16I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	129					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.L129L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CATGGGCGGACTCCTGTTTAT	0.453													A	108609520	C	A	108609520	3	1	5	1	0	0	0	0	1	0	0	0	14670	565	20	5	395	5	SLC5A7	2	108609520	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	5970812	108609520	134589853	8	275											
STAM2	10254	broad.mit.edu	37	2	153003822	153003822	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:153003822C>T	uc002tyc.4	-	5	651	c.301_splice	c.e5-1	p.A101_splice	STAM2_uc010foa.1_Splice_Site_p.A101_splice|STAM2_uc002tyd.3_Splice_Site_p.A101_splice	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	101	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTAGGATGTGCCTTTTAAGGA	0.299													T	153003822	C	T	153003822	3	4	5	1	0	0	0	0	1	0	0	0	15248	753	26	3	1316	3	STAM2	2	153003822	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	44394302	153003822	90195551	9	276											
NHEJ1	79840	broad.mit.edu	37	2	220012493	220012493	+	Silent	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:220012493G>A	uc002vjp.4	-	3	561	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	NHEJ1_uc002vjq.4_Non-coding_Transcript	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	Homo sapiens nonhomologous end-joining factor 1 (NHEJ1), mRNA.	139					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		ATGCCCATCAGAGGACGAATC	0.433								Non-homologous end-joining					A	220012493	G	A	220012493	2	1	5	1	0	0	0	0	0	0	0	1	10402	933	33	3		3	NHEJ1	2	220012493	Silent	SNP	G	TCGA-02-2470-01A-01D-1494-08	67008671	220012493	23186880	10	277											
XYLB	9942	broad.mit.edu	37	3	38411555	38411555	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr3:38411555A>G	uc003cic.2	+	8	764	c.655A>G	c.(655-657)Atg>Gtg	p.M219V	XYLB_uc011ayp.1_Missense_Mutation_p.M82V|XYLB_uc003cid.1_Missense_Mutation_p.M141V	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	219					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AGGTTCTGGAATGAATTTGTT	0.443													G	38411555	A	G	38411555	3	3	5	1	0	0	0	0	1	0	0	0	17459	101	4	4	689	4	XYLB	3	38411555	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08		38411555	159610875	11	278											
CD96	10225	broad.mit.edu	37	3	111264248	111264248	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr3:111264248C>T	uc003dxw.3	+	2	588	c.418_splice	c.e2+1	p.V140_splice	CD96_uc003dxv.3_Splice_Site_p.V140_splice|CD96_uc003dxx.3_Splice_Site_p.V140_splice|CD96_uc010hpy.1_Splice_Site_p.V140_splice	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	140					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTCAGACACACGGTAAGCATA	0.418									Opitz Trigonocephaly syndrome				T	111264248	C	T	111264248	2	4	5	1	0	0	0	0	0	0	0	1	3048	550	19	1		1	CD96	3	111264248	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	72852693	111264248	86758182	12	279											
DOK7	285489	broad.mit.edu	37	4	3478126	3478126	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:3478126C>A	uc003ghd.3	+	3	459	c.389C>A	c.(388-390)aCc>aAc	p.T130N	DOK7_uc003ghe.3_Missense_Mutation_p.T130N	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	130	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCCGGCTACCCTGCACCTC	0.672													A	3478126	C	A	3478126	3	1	5	1	0	0	0	0	1	0	0	0	4702	507	18	5	403	5	DOK7	4	3478126	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		3478126	187676150	13	280											
GABRA4	2557	broad.mit.edu	37	4	46967126	46967126	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:46967126G>A	uc003gxg.3	-	7	1978	c.995C>T	c.(994-996)tCg>tTg	p.S332L	GABRA4_uc021xnz.1_Missense_Mutation_p.S313L|GABRA4_uc021xoa.1_Missense_Mutation_p.S262L	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	332					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATAAGGGCCGAAAATACAAA	0.458													A	46967126	G	A	46967126	3	1	5	1	0	0	0	0	1	0	0	0	6163	1059	37	2	677	2	GABRA4	4	46967126	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	43489000	46967126	144187150	14	281											
NUP54	53371	broad.mit.edu	37	4	77065621	77065621	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:77065621A>G	uc003hjs.3	-	1	201	c.73T>C	c.(73-75)Ttt>Ctt	p.F25L	NUP54_uc010ije.3_5'UTR|NUP54_uc011cbs.2_5'UTR|NUP54_uc011cbt.2_Missense_Mutation_p.F25L|NUP54_uc003hjt.3_5'UTR	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	25	9 X 2 AA repeats of F-G.|Gly-rich.			AGGF -> GWV (in Ref. 1; AAF67488).	carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AATCCTCCAAACCCACCTAAT	0.333													G	77065621	A	G	77065621	3	3	5	1	0	0	0	0	1	0	0	0	10767	43	2	4	1494	4	NUP54	4	77065621	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	30098495	77065621	114088655	15	282											
ARHGAP24	83478	broad.mit.edu	37	4	86916597	86916597	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:86916597C>A	uc003hpk.3	+	8	2239	c.1790C>A	c.(1789-1791)cCg>cAg	p.P597Q	ARHGAP24_uc003hpl.3_Missense_Mutation_p.P502Q|ARHGAP24_uc010ikf.3_Missense_Mutation_p.P512Q|ARHGAP24_uc003hpm.3_Missense_Mutation_p.P504Q	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	597					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGGGCCCCCGCAGGACGAC	0.557													A	86916597	C	A	86916597	3	1	5	1	0	0	0	0	1	0	0	0	873	652	23	5	1936	5	ARHGAP24	4	86916597	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	9850976	86916597	104237679	16	283											
PDHA2	5161	broad.mit.edu	37	4	96761886	96761886	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:96761886C>T	uc003htr.4	+	0	648	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	195					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.G195G(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATGGGGATGGCGCTGCGAATC	0.473													T	96761886	C	T	96761886	2	4	5	1	0	0	0	0	0	0	0	1	11665	755	27	1		1	PDHA2	4	96761886	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	9845289	96761886	94392390	17	284											
ADH7	131	broad.mit.edu	37	4	100349053	100349053	+	Silent	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:100349053G>A	uc003huv.2	-	4	718	c.477C>T	c.(475-477)acC>acT	p.T159T	ADH7_uc021xqj.1_Silent_p.T167T	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	159					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CTGTGTACTCGGTAAATGTAC	0.458													A	100349053	G	A	100349053	2	1	5	1	0	0	0	0	0	0	0	1	313	1103	39	2		2	ADH7	4	100349053	Silent	SNP	G	TCGA-02-2470-01A-01D-1494-08	3587167	100349053	90805223	18	285											
DCHS2	54798	broad.mit.edu	37	4	155157377	155157377	+	Silent	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:155157377T>C	uc003inw.2	-	24	7062	c.7062A>G	c.(7060-7062)gtA>gtG	p.V2354V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2354	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACAGGGTGATACAATAGAAT	0.393													C	155157377	T	C	155157377	2	2	5	1	0	0	0	0	0	0	0	1	4288	1393	49	4		4	DCHS2	4	155157377	Silent	SNP	T	TCGA-02-2470-01A-01D-1494-08	54808324	155157377	35996899	19	286											
CCDC110	256309	broad.mit.edu	37	4	186381079	186381079	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:186381079T>C	uc003ixu.4	-	5	738	c.662A>G	c.(661-663)gAt>gGt	p.D221G	CCDC110_uc003ixv.4_Missense_Mutation_p.D184G|CCDC110_uc011ckt.1_Missense_Mutation_p.D221G	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	221						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGGATTTATCCAGAATTAC	0.323													C	186381079	T	C	186381079	3	2	5	1	0	0	0	0	1	0	0	0	2747	1435	50	4	1847	4	CCDC110	4	186381079	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	31223702	186381079	4773197	20	287											
WDR70	55100	broad.mit.edu	37	5	37480065	37480065	+	Nonsense_Mutation	SNP	T	T	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:37480065T>G	uc003jkv.3	+	7	874	c.816T>G	c.(814-816)taT>taG	p.Y272*	WDR70_uc010iva.1_Nonsense_Mutation_p.Y272*	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	272										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGACCAGTATATTGTGGACA	0.348													G	37480065	T	G	37480065	4	3	5	1	0	0	0	0	0	1	0	0	17318	1413	49	5	846	5	WDR70	5	37480065	Nonsense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08		37480065	143435195	21	288											
C5orf34	375444	broad.mit.edu	37	5	43509299	43509299	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:43509299T>G	uc003jnz.2	-	1	545	c.143A>C	c.(142-144)gAa>gCa	p.E48A	C5orf34_uc011cpx.2_Intron	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	48										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTCTGGTTGTTCTAAAGGATG	0.358													G	43509299	T	G	43509299	3	3	5	1	0	0	0	0	1	0	0	0	2293	1783	62	5	1821	5	C5orf34	5	43509299	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	6029234	43509299	137405961	22	289											
ERGIC1	57222	broad.mit.edu	37	5	172336690	172336690	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:172336690A>G	uc003mbw.4	+	3	370	c.176A>G	c.(175-177)gAt>gGt	p.D59G	ERGIC1_uc003mby.4_5'UTR|ERGIC1_uc011dfa.2_5'UTR|ERGIC1_uc003mbz.4_Missense_Mutation_p.D14G	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA.	59					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCTATGTCGATGACCCAGAC	0.542													G	172336690	A	G	172336690	3	3	5	1	0	0	0	0	1	0	0	0	5223	333	12	4	190	4	ERGIC1	5	172336690	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	128827391	172336690	8578570	23	290											
KIF13A	63971	broad.mit.edu	37	6	17837205	17837205	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:17837205C>T	uc003ncg.4	-	10	1219	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	KIF13A_uc003ncf.3_Silent_p.V353V|KIF13A_uc003nch.4_Silent_p.V353V|KIF13A_uc003nci.4_Silent_p.V353V|KIF13A_uc003ncj.3_Silent_p.V29V	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	353					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGCATGGTTCACAATCCTTT	0.502													T	17837205	C	T	17837205	2	4	5	1	0	0	0	0	0	0	0	1	8274	813	29	3		3	KIF13A	6	17837205	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		17837205	153277862	24	291											
RFX6	222546	broad.mit.edu	37	6	117215161	117215161	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:117215161A>C	uc003pxm.3	+	4	641	c.578A>C	c.(577-579)tAt>tCt	p.Y193S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	193					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TATCATTACTATGGGATTGGC	0.413													C	117215161	A	C	117215161	3	2	5	1	0	0	0	0	1	0	0	0	13267	449	16	5	596	5	RFX6	6	117215161	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	99377956	117215161	53899906	25	292											
SYNJ2	8871	broad.mit.edu	37	6	158483196	158483196	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:158483196G>A	uc003qqx.2	+	8	1233	c.1127_splice	c.e8+1	p.R376_splice	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Splice_Site_p.R376_splice|SYNJ2_uc003qqy.2_Splice_Site_p.R139_splice|SYNJ2_uc011efn.1_Splice_Site_p.R304_splice|SYNJ2_uc010kjo.1_Splice_Site_p.R325_splice|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	376	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTCAGTCCACGGTGAGGCTCG	0.607													A	158483196	G	A	158483196	3	1	5	1	0	0	0	0	1	0	0	0	15450	1130	39	2	1157	2	SYNJ2	6	158483196	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	41268035	158483196	12631871	26	293											
IGFBP1	3484	broad.mit.edu	37	7	45932660	45932660	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:45932660C>T	uc003tnp.3	+	3	1043	c.750C>T	c.(748-750)aaC>aaT	p.N250N		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	250	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						GAGACCCCAACTGCCAGATAT	0.433													T	45932660	C	T	45932660	2	4	5	1	0	0	0	0	0	0	0	1	7578	564	20	3		3	IGFBP1	7	45932660	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		45932660	113206003	27	294											
PARP12	64761	broad.mit.edu	37	7	139726106	139726106	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:139726106C>T	uc003vvl.1	-	10	2545	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	557	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCCGCTCGTCCACGGCCTTCC	0.572													T	139726106	C	T	139726106	2	4	5	1	0	0	0	0	0	0	0	1	11457	581	21	3		3	PARP12	7	139726106	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	93793446	139726106	19412557	28	295											
CNTNAP2	26047	broad.mit.edu	37	7	146818164	146818164	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:146818164G>A	uc003weu.2	+	5	1364	c.848G>A	c.(847-849)cGc>cAc	p.R283H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	283	Laminin G-like 1.		R -> C.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCATTGAGCGCCAGGGGCGG	0.532										HNSCC(39;0.1)			A	146818164	G	A	146818164	3	1	5	1	0	0	0	0	1	0	0	0	3647	1087	38	1	870	1	CNTNAP2	7	146818164	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	7092058	146818164	12320499	29	296											
MLL3	58508	broad.mit.edu	37	7	151962124	151962124	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:151962124T>C	uc003wla.3	-	8	1403	c.1184_splice	c.e8+1	p.K395_splice		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	395					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAAACTTACTTGCAGTTCTGG	0.403			N		medulloblastoma								C	151962124	T	C	151962124	3	2	5	1	0	0	0	0	1	0	0	0	9622	1826	63	4	13760	4	MLL3	7	151962124	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	5143960	151962124	7176539	30	297											
NEFM	4741	broad.mit.edu	37	8	24772112	24772112	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr8:24772112C>T	uc003xed.4	+	0	839	c.806C>T	c.(805-807)gCg>gTg	p.A269V	NEFM_uc011lac.1_Missense_Mutation_p.A269V|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	269	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton	p.A269V(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTCGACGGCGCTGAAGGAA	0.592													T	24772112	C	T	24772112	3	4	5	1	0	0	0	0	1	0	0	0	10316	768	27	1	808	1	NEFM	8	24772112	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		24772112	121591910	31	298											
CA9	768	broad.mit.edu	37	9	35674152	35674152	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:35674152C>T	uc003zxo.4	+	0	238	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	C9orf100_uc003zxl.3_Non-coding_Transcript|CA9_uc003zxn.1_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	66	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	p.L65L(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGATCTGCCCAGTGAAGA	0.592													T	35674152	C	T	35674152	3	4	5	1	0	0	0	0	1	0	0	0	2524	739	26	3	198	3	CA9	9	35674152	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		35674152	105539279	32	299											
SPAG8	26206	broad.mit.edu	37	9	35810291	35810291	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:35810291G>T	uc003zye.3	-	5	1331	c.1216C>A	c.(1216-1218)Cag>Aag	p.Q406K	SPAG8_uc003zyg.3_Missense_Mutation_p.Q406K	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	406						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGTTGCTCCTGGCGGTAGTCG	0.607													T	35810291	G	T	35810291	3	4	5	1	0	0	0	0	1	0	0	0	14984	1357	47	5	500	5	SPAG8	9	35810291	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	136139	35810291	105403140	33	300											
MELK	9833	broad.mit.edu	37	9	36651764	36651764	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:36651764G>T	uc003zzn.3	+	11	1081	c.943G>T	c.(943-945)Gct>Tct	p.A315S	MELK_uc011lpm.2_Missense_Mutation_p.A184S|MELK_uc011lpn.2_Missense_Mutation_p.A315S|MELK_uc011lpo.2_Missense_Mutation_p.A121S|MELK_uc010mll.3_Missense_Mutation_p.A283S|MELK_uc011lpp.2_Missense_Mutation_p.A267S|MELK_uc010mlm.3_Missense_Mutation_p.A244S|MELK_uc011lpr.2_Missense_Mutation_p.A244S|MELK_uc011lpq.2_Missense_Mutation_p.A121S|MELK_uc011lps.2_Missense_Mutation_p.A235S	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	315						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TCACCTCACGGCTACCTATCT	0.403													T	36651764	G	T	36651764	3	4	5	1	0	0	0	0	1	0	0	0	9470	1203	42	5	985	5	MELK	9	36651764	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	841473	36651764	104561667	34	301											
FAM75A2	642265	broad.mit.edu	37	9	39888189	39888189	+	Silent	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:39888189G>T	uc004abp.3	+	3	1205	c.1176G>T	c.(1174-1176)ctG>ctT	p.L392L		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	392						integral to membrane				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGAAACAGCTGCCCGGACCTC	0.488													T	39888189	G	T	39888189	2	4	5	1	0	0	0	0	0	0	0	1	5620	1306	46	5		5	FAM75A2	9	39888189	Silent	SNP	G	TCGA-02-2470-01A-01D-1494-08	3236425	39888189	101325242	35	302											
SH2D3C	10044	broad.mit.edu	37	9	130502108	130502108	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:130502108delC	uc004bsc.3	-	10	2402	c.2260delG	c.(2260-2262)gagfs	p.E754fs	SH2D3C_uc010mxo.3_Frame_Shift_Del_p.E594fs|SH2D3C_uc004bry.3_Frame_Shift_Del_p.E596fs|SH2D3C_uc004brz.4_Frame_Shift_Del_p.E400fs|SH2D3C_uc011mak.2_Frame_Shift_Del_p.E400fs|SH2D3C_uc004bsb.3_Frame_Shift_Del_p.E686fs|SH2D3C_uc004bsa.3_Frame_Shift_Del_p.E597fs	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	754	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGTCACACTCCAGCAGGGTG	0.657													-	130502108	C	-	130502108	7	5	5	1	0	1	0	1	0	0	0	0	14234	864	30	0	330	0	SH2D3C	9	130502108	Frame_Shift_Del	DEL	C	TCGA-02-2470-01A-01D-1494-08	90613919	130502108	10711323	36	303											
STAM	8027	broad.mit.edu	37	10	17735226	17735226	+	Silent	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:17735226A>G	uc001ipj.2	+	5	665	c.450A>G	c.(448-450)gcA>gcG	p.A150A	STAM_uc010qcf.2_Silent_p.A39A|STAM_uc009xjw.2_5'Flank	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	150					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTTAGGCTGCAGAACAAGCAA	0.408													G	17735226	A	G	17735226	2	3	5	1	0	0	0	0	0	0	0	1	15247	175	7	4		4	STAM	10	17735226	Silent	SNP	A	TCGA-02-2470-01A-01D-1494-08		17735226	117799521	37	304											
NEBL	10529	broad.mit.edu	37	10	21461321	21461321	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:21461321T>C	uc001iqk.3	-	1	509	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	NEBL_uc021pnu.1_Missense_Mutation_p.Y52C	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	714					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGCATTACAATAGGGCTTCTT	0.438													C	21461321	T	C	21461321	3	2	5	1	0	0	0	0	1	0	0	0	10303	1406	49	4	3370	4	NEBL	10	21461321	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	3726095	21461321	114073426	38	305											
SVIL	6840	broad.mit.edu	37	10	29839574	29839574	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:29839574C>T	uc001iut.1	-	5	1532	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	SVIL_uc001iuu.1_Missense_Mutation_p.R260Q|SVIL_uc009xld.1_Missense_Mutation_p.R260Q	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	260					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGAGGGGCTCCGGGAGGCTGC	0.612													T	29839574	C	T	29839574	3	4	5	1	0	0	0	0	1	0	0	0	15418	652	23	2	5997	2	SVIL	10	29839574	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	8378253	29839574	105695173	39	306											
KIAA1462	57608	broad.mit.edu	37	10	30315760	30315760	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:30315760G>A	uc009xle.2	-	2	3454	c.3317C>T	c.(3316-3318)gCg>gTg	p.A1106V	KIAA1462_uc001iux.3_Missense_Mutation_p.A1106V|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.A968V	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1106										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						GTTCTGTCCCGCTCTCCGGAT	0.637													A	30315760	G	A	30315760	3	1	5	1	0	0	0	0	1	0	0	0	8234	1087	38	1	770	1	KIAA1462	10	30315760	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	476186	30315760	105218987	40	307											
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	5	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	59401912	89717672	45817075	41	308											
ANO3	63982	broad.mit.edu	37	11	26569054	26569054	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:26569054G>A	uc001mqt.4	+	11	1391	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	ANO3_uc010rdr.2_Missense_Mutation_p.V400I|ANO3_uc010rds.2_Missense_Mutation_p.V255I|ANO3_uc010rdt.2_Missense_Mutation_p.V270I	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	416						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGGTTTGTGCGTTTTCTTCTA	0.373													A	26569054	G	A	26569054	3	1	5	1	0	0	0	0	1	0	0	0	698	1145	40	1	1292	1	ANO3	11	26569054	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		26569054	108437462	42	309											
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:55541619C>T	uc010ril.2	+	0	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	236			R -> L (in dbSNP:rs7124871).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G235W(1)|p.R236H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408													T	55541619	C	T	55541619	3	4	5	1	0	0	0	0	1	0	0	0	11154	768	27	1	708	1	OR5D13	11	55541619	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	28972565	55541619	79464897	43	310											
OR10V1	390201	broad.mit.edu	37	11	59481032	59481032	+	Missense_Mutation	SNP	G	G	A	rs144835634		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:59481032G>A	uc001nof.1	-	0	287	c.287C>T	c.(286-288)aCg>aTg	p.T96M		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GCCACATCCCGTGATGGAAAC	0.473													A	59481032	G	A	59481032	3	1	5	1	0	0	0	0	1	0	0	0	10920	1145	40	1	646	1	OR10V1	11	59481032	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	3939413	59481032	75525484	44	311											
CAPN1	823	broad.mit.edu	37	11	64953733	64953733	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:64953733G>A	uc009yqd.2	+	5	880	c.683G>A	c.(682-684)cGc>cAc	p.R228H	CAPN1_uc001odf.2_Missense_Mutation_p.R228H|CAPN1_uc001odg.2_Missense_Mutation_p.R228H|CAPN1_uc010roa.2_5'UTR	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	228	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	p.R228H(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TACGAGTTGCGCAAGGCTCCC	0.637													A	64953733	G	A	64953733	3	1	5	1	0	0	0	0	1	0	0	0	2622	1087	38	1	701	1	CAPN1	11	64953733	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	5472701	64953733	70052783	45	312											
TMEM123	114908	broad.mit.edu	37	11	102272678	102272678	+	Silent	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:102272678A>G	uc001pha.3	-	2	838	c.417T>C	c.(415-417)agT>agC	p.S139S	TMEM123_uc009yxc.3_Silent_p.S120S	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Homo sapiens transmembrane protein 123 (TMEM123), mRNA.	139	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		ATGTCACTGAACTATTGTGGG	0.363													G	102272678	A	G	102272678	2	3	5	1	0	0	0	0	0	0	0	1	16033	40	2	4		4	TMEM123	11	102272678	Silent	SNP	A	TCGA-02-2470-01A-01D-1494-08	37318945	102272678	32733838	46	313											
RAPGEF3	10411	broad.mit.edu	37	12	48143197	48143197	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:48143197C>A	uc001rpz.4	-	9	1567	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.K297N|RAPGEF3_uc009zkq.3_Missense_Mutation_p.K297N|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.K351N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.K339N	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	297					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGAAGTCCTGCTTGTCCACAC	0.562													A	48143197	C	A	48143197	3	1	5	1	0	0	0	0	1	0	0	0	13045	796	28	5	1830	5	RAPGEF3	12	48143197	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		48143197	85708698	47	314											
SRRM4	84530	broad.mit.edu	37	12	119588965	119588965	+	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:119588965C>G	uc001txa.2	+	9	1608	c.1220C>G	c.(1219-1221)tCc>tGc	p.S407C		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	407	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCGTCCCGATCCCCAAATCCC	0.572													G	119588965	C	G	119588965	3	3	5	1	0	0	0	0	1	0	0	0	15170	855	30	5	1258	5	SRRM4	12	119588965	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	71445768	119588965	14262930	48	315											
RIMBP2	23504	broad.mit.edu	37	12	130898833	130898833	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:130898833C>T	uc001uil.2	-	13	2705	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	830						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGAGAAAGGCGGTCTCGCCC	0.572													T	130898833	C	T	130898833	3	4	5	1	0	0	0	0	1	0	0	0	13363	768	27	1	693	1	RIMBP2	12	130898833	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	11309868	130898833	2953062	49	316											
FGF14	2259	broad.mit.edu	37	13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr13:102375254G>A	uc001vpf.2	-	4	782	c.686C>T	c.(685-687)aCg>aTg	p.T229M	FGF14_uc001vpe.2_Missense_Mutation_p.T224M	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	224					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.T229M(2)|p.T224M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473													A	102375254	G	A	102375254	3	1	5	1	0	0	0	0	1	0	0	0	5843	1145	40	1	76	1	FGF14	13	102375254	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		102375254	12794624	50	317											
C14orf39	317761	broad.mit.edu	37	14	60951623	60951623	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:60951623C>T	uc001xez.4	-	2	192	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	C14orf39_uc010apo.3_5'UTR	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	28										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATCATCTCTTCTTTAGTACTT	0.264													T	60951623	C	T	60951623	3	4	5	1	0	0	0	0	1	0	0	0	1772	922	32	3	1745	3	C14orf39	14	60951623	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		60951623	46397917	51	318											
DLK1	8788	broad.mit.edu	37	14	101201218	101201218	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:101201218C>T	uc001yhs.4	+	4	1341	c.1137C>T	c.(1135-1137)ggC>ggT	p.G379G	DLK1_uc001yhu.4_Silent_p.G306G|DLK1_uc021sbs.1_Silent_p.G91G	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	379					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				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)				AGGAGGCCGGCGACGAGGAGA	0.552													T	101201218	C	T	101201218	2	4	5	1	0	0	0	0	0	0	0	1	4564	755	27	1		1	DLK1	14	101201218	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	40249595	101201218	6148322	52	319											
TDRD9	122402	broad.mit.edu	37	14	104508512	104508512	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:104508512A>C	uc001yom.4	+	33	3992	c.3962A>C	c.(3961-3963)cAg>cCg	p.Q1321P	TDRD9_uc001yon.4_Missense_Mutation_p.Q868P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1321					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTGCCCGTCAGAAGCTTTTA	0.478													C	104508512	A	C	104508512	3	2	5	1	0	0	0	0	1	0	0	0	15733	188	7	5	4096	5	TDRD9	14	104508512	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	3307294	104508512	2841028	53	320											
TGM5	9333	broad.mit.edu	37	15	43552356	43552356	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:43552356C>T	uc001zrd.2	-	2	338	c.330G>A	c.(328-330)gcG>gcA	p.A110A	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	110					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A110A(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GACCCACGGCCGCCGTGGGAG	0.617													T	43552356	C	T	43552356	2	4	5	1	0	0	0	0	0	0	0	1	15830	639	23	2		2	TGM5	15	43552356	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		43552356	58979036	54	321											
DET1	55070	broad.mit.edu	37	15	89056199	89056199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:89056199G>A	uc002bmq.2	-	5	1858	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Nonsense_Mutation_p.R546*|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	546						nucleus		p.R557Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGCAGTGTCGCATATGGAAG	0.498													A	89056199	G	A	89056199	4	1	5	1	0	0	0	0	0	1	0	0	4450	1095	38	1	20	1	DET1	15	89056199	Nonsense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	45503843	89056199	13475193	55	322											
DET1	55070	broad.mit.edu	37	15	89073948	89073948	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:89073948C>T	uc002bmq.2	-	2	1211	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.R330Q|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	330						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTTCCACATTCGCAGCTGCCG	0.493													T	89073948	C	T	89073948	3	4	5	1	0	0	0	0	1	0	0	0	4450	884	31	2	679	2	DET1	15	89073948	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	17749	89073948	13457444	56	323											
ITGAX	3687	broad.mit.edu	37	16	31368588	31368588	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr16:31368588C>T	uc002ebt.3	+	4	400	c.333C>T	c.(331-333)acC>acT	p.T111T	ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebu.1_Silent_p.T111T	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	111					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCGGCCCCACCGTGCACCACG	0.687													T	31368588	C	T	31368588	2	4	5	1	0	0	0	0	0	0	0	1	7889	639	23	2		2	ITGAX	16	31368588	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		31368588	58986165	57	324											
CCDC135	84229	broad.mit.edu	37	16	57760043	57760043	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr16:57760043G>A	uc002emi.3	+	12	1911	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	CCDC135_uc002emj.3_Missense_Mutation_p.V608M|CCDC135_uc002emk.3_Missense_Mutation_p.V543M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	608						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCAGAGCGCGTGTTTCTGGT	0.627													A	57760043	G	A	57760043	3	1	5	1	0	0	0	0	1	0	0	0	2769	1145	40	1	1868	1	CCDC135	16	57760043	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	26391455	57760043	32594710	58	325											
DLG4	1742	broad.mit.edu	37	17	7121951	7121951	+	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:7121951C>G	uc002get.4	-	1	1228	c.27G>C	c.(25-27)agG>agC	p.R9S	DLG4_uc010cly.3_5'Flank|DLG4_uc010vto.2_Missense_Mutation_p.R9S|DLG4_uc002geu.3_5'Flank|ACADVL_uc010vtp.2_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.3_5'Flank|ACADVL_uc002gew.3_5'Flank|ACADVL_uc002gex.3_5'Flank	NM_001365	NP_001356	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 1, mRNA.	0					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						AGAGGGCTGACCTGGGAGCTA	0.592													G	7121951	C	G	7121951	3	3	5	1	0	0	0	0	1	0	0	0	4557	506	18	5	2394	5	DLG4	17	7121951	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		7121951	74073259	59	326											
C17orf102	400591	broad.mit.edu	37	17	32905952	32905952	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:32905952G>T	uc002hie.1	-	0	437	c.348C>A	c.(346-348)aaC>aaA	p.N116K	TMEM132E_uc002hif.3_5'Flank	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	Homo sapiens chromosome 17 open reading frame 102 (C17orf102), mRNA.	116										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAATAAATAGGTTTCCCACAG	0.607													T	32905952	G	T	32905952	3	4	5	1	0	0	0	0	1	0	0	0	1849	1252	44	5	163	5	C17orf102	17	32905952	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	25784001	32905952	48289258	60	327											
GGNBP2	79893	broad.mit.edu	37	17	34943625	34943625	+	Frame_Shift_Del	DEL	T	T	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:34943625delT	uc002hnb.3	+	12	2156	c.1840delT	c.(1840-1842)ttgfs	p.L614fs		NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	614					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.T613T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACAGAAACGTTGTTTGGTCC	0.463													-	34943625	T	-	34943625	7	5	5	1	0	1	0	1	0	0	0	0	6359	1722	60	0	1886	0	GGNBP2	17	34943625	Frame_Shift_Del	DEL	T	TCGA-02-2470-01A-01D-1494-08	2037673	34943625	46251585	61	328											
CTAGE1	64693	broad.mit.edu	37	18	19995570	19995570	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:19995570T>A	uc002ktv.1	-	0	2309	c.2205A>T	c.(2203-2205)agA>agT	p.R735S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	735	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAATGCAGGTCTTGGGGGAC	0.483													A	19995570	T	A	19995570	3	1	5	1	0	0	0	0	1	0	0	0	3992	1664	58	5	36	5	CTAGE1	18	19995570	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08		19995570	58081678	62	329											
TCEB3B	51224	broad.mit.edu	37	18	44560403	44560403	+	Silent	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:44560403T>C	uc002lcr.1	-	0	1586	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	411					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCTTTCCTTTGTTTATCTC	0.502													C	44560403	T	C	44560403	2	2	5	1	0	0	0	0	0	0	0	1	15679	1838	64	4		4	TCEB3B	18	44560403	Silent	SNP	T	TCGA-02-2470-01A-01D-1494-08	24564833	44560403	33516845	63	330											
MALT1	10892	broad.mit.edu	37	18	56400716	56400716	+	Frame_Shift_Del	DEL	A	A	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:56400716delA	uc002lhm.1	+	10	1568	c.1310delA	c.(1309-1311)gaafs	p.E437fs	MALT1_uc002lhn.1_Frame_Shift_Del_p.E426fs	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	437	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TATAGGTCTGAAAATTGTCTG	0.348			T	BIRC3	MALT								-	56400716	A	-	56400716	7	5	5	1	0	1	0	1	0	0	0	0	9202	246	9	0	1352	0	MALT1	18	56400716	Frame_Shift_Del	DEL	A	TCGA-02-2470-01A-01D-1494-08	11840313	56400716	21676532	64	331											
TNFRSF11A	8792	broad.mit.edu	37	18	60025550	60025550	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:60025550C>T	uc002lin.3	+	4	535	c.497C>T	c.(496-498)aCg>aTg	p.T166M	TNFRSF11A_uc010dpv.3_Missense_Mutation_p.T166M	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	166					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTTCCTCCACGGACAAATGC	0.448													T	60025550	C	T	60025550	3	4	5	1	0	0	0	0	1	0	0	0	16281	536	19	1	515	1	TNFRSF11A	18	60025550	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	3624834	60025550	18051698	65	332											
TJP3	27134	broad.mit.edu	37	19	3730053	3730053	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:3730053C>T	uc010xhv.2	+	2	243	c.243C>T	c.(241-243)aaC>aaT	p.N81N	TJP3_uc010xhs.2_Silent_p.N62N|TJP3_uc010xht.2_Silent_p.N26N|TJP3_uc010xhu.2_Silent_p.N71N|TJP3_uc010xhw.2_Silent_p.N81N	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	62	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGTGAACGGGGTTTCCA	0.597													T	3730053	C	T	3730053	2	4	5	1	0	0	0	0	0	0	0	1	15928	535	19	1		1	TJP3	19	3730053	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		3730053	55398930	66	333											
MATK	4145	broad.mit.edu	37	19	3783147	3783147	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:3783147G>A	uc002lyt.3	-	6	1053	c.653C>T	c.(652-654)tCg>tTg	p.S218L	MATK_uc002lyv.3_Missense_Mutation_p.S219L|MATK_uc002lyu.3_Missense_Mutation_p.S177L|MATK_uc010dtq.3_Missense_Mutation_p.S218L	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	218					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGGCCGACTTGGTCCC	0.657													A	3783147	G	A	3783147	3	1	5	1	0	0	0	0	1	0	0	0	9332	1059	37	2	902	2	MATK	19	3783147	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	53094	3783147	55345836	67	334											
NFIX	4784	broad.mit.edu	37	19	13192662	13192662	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:13192662delC	uc010xmx.2	+	7	1324	c.1271delC	c.(1270-1272)accfs	p.T424fs	NFIX_uc002mwd.3_Frame_Shift_Del_p.T416fs|NFIX_uc002mwe.3_Frame_Shift_Del_p.T408fs|NFIX_uc002mwf.3_Frame_Shift_Del_p.T378fs|NFIX_uc002mwg.2_Frame_Shift_Del_p.T415fs			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	416					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGCCAGGCCACCGGACAGGTG	0.612											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	13192662	C	-	13192662	7	5	5	1	0	1	0	1	0	0	0	0	10374	507	18	0	1277	0	NFIX	19	13192662	Frame_Shift_Del	DEL	C	TCGA-02-2470-01A-01D-1494-08	9409515	13192662	45936321	68	335											
NPHS1	4868	broad.mit.edu	37	19	36340038	36340038	+	Silent	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:36340038C>T	uc002oby.3	-	7	1008	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	284	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				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)			CTGTGGACACCGGCTGGCCAT	0.677													T	36340038	C	T	36340038	2	4	5	1	0	0	0	0	0	0	0	1	10582	639	23	2		2	NPHS1	19	36340038	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	23147376	36340038	22788945	69	336											
ZNF526	116115	broad.mit.edu	37	19	42730344	42730344	+	Missense_Mutation	SNP	C	C	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:42730344C>G	uc002osz.1	+	2	1945	c.1789C>G	c.(1789-1791)Cga>Gga	p.R597G	ZNF526_uc021uvc.1_Missense_Mutation_p.R597G	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GGTCCATGCCCGAGCTCGGAC	0.612													G	42730344	C	G	42730344	3	3	5	1	0	0	0	0	1	0	0	0	17964	644	23	5	1791	5	ZNF526	19	42730344	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	6390306	42730344	16398639	70	337											
ZNF667	63934	broad.mit.edu	37	19	56953854	56953859	+	In_Frame_Del	DEL	CTTCTC	CTTCTC	-			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:56953854_56953859delCTTCTC	uc002qne.3	-	6	1296_1301	c.505_510delGAGAAG	c.(505-510)gagaagdel	p.EK169del	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_In_Frame_Del_p.EK169del|ZNF667_uc010etm.3_In_Frame_Del_p.EK112del	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTCAAAAGGCTTCTCTCCTGTATGA	0.374													-	56953859	CTTCTC	-	56953854	7	5	5	1	0	1	0	1	0	0	0	0	18071	796	28	0	1326	0	ZNF667	19	56953854	In_Frame_Del	DEL	CTTCTC	TCGA-02-2470-01A-01D-1494-08	14223510	56953854	2175129	71	338											
ZNF606	80095	broad.mit.edu	37	19	58490980	58490980	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:58490980G>C	uc002qqw.3	-	6	1686	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	ZNF606_uc010yhp.2_Missense_Mutation_p.F266L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TAAAGGATGAGAAATAAAAGA	0.333													C	58490980	G	C	58490980	3	2	5	1	0	0	0	0	1	0	0	0	18029	933	33	5	1314	5	ZNF606	19	58490980	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	1537126	58490980	638003	72	339											
PLCB4	5332	broad.mit.edu	37	20	9417712	9417712	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:9417712G>A	uc021wam.1	+	25	2656	c.2641G>A	c.(2641-2643)Gcc>Acc	p.A881T	PLCB4_uc010gbw.1_Missense_Mutation_p.A881T|PLCB4_uc010gbx.3_Missense_Mutation_p.A893T|PLCB4_uc021wal.1_Missense_Mutation_p.A881T|PLCB4_uc002wnh.3_Missense_Mutation_p.A728T	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	881					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCCAACACCGCCAAAGCAAA	0.512													A	9417712	G	A	9417712	3	1	5	1	0	0	0	0	1	0	0	0	12030	1087	38	1	2783	1	PLCB4	20	9417712	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		9417712	53607808	73	340											
KIF16B	55614	broad.mit.edu	37	20	16506810	16506810	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:16506810G>C	uc002wpg.2	-	2	317	c.158C>G	c.(157-159)aCc>aGc	p.T53S	KIF16B_uc010gch.2_Missense_Mutation_p.T53S|KIF16B_uc010gci.2_Missense_Mutation_p.T53S|KIF16B_uc010gcj.2_Missense_Mutation_p.T53S	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	53	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.R52L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAAGGTCTTGGTCCGTTCTCT	0.353													C	16506810	G	C	16506810	3	2	5	1	0	0	0	0	1	0	0	0	8278	1261	44	5	3891	5	KIF16B	20	16506810	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	7089098	16506810	46518710	74	341											
SSTR4	6754	broad.mit.edu	37	20	23016581	23016581	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:23016581C>T	uc002wsr.2	+	0	525	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	154					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)					CCTCTGCGCGCGGCGACCTAC	0.662													T	23016581	C	T	23016581	3	4	5	1	0	0	0	0	1	0	0	0	15199	768	27	1	463	1	SSTR4	20	23016581	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	6509771	23016581	40008939	75	342											
PPP1R16B	26051	broad.mit.edu	37	20	37534721	37534721	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:37534721C>T	uc002xje.3	+	6	995	c.806C>T	c.(805-807)gCt>gTt	p.A269V	PPP1R16B_uc010ggc.3_Intron	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	269					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			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)				CTGCATGCAGCTGCCTTCTGG	0.607													T	37534721	C	T	37534721	3	4	5	1	0	0	0	0	1	0	0	0	12366	797	28	3	828	3	PPP1R16B	20	37534721	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	14518140	37534721	25490799	76	343											
MX2	4600	broad.mit.edu	37	21	42773954	42773954	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr21:42773954A>G	uc002yzf.1	+	10	1576	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MX2_uc002yzg.1_Missense_Mutation_p.E214G|MX2_uc010gop.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	491					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CGAGGCAAGGAGCTTCTGGGA	0.433													G	42773954	A	G	42773954	3	3	5	1	0	0	0	0	1	0	0	0	9998	304	11	4	1510	4	MX2	21	42773954	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08		42773954	5355941	77	344											
MAGEB18	286514	broad.mit.edu	37	X	26157158	26157158	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chrX:26157158G>A	uc022bub.1	+	0	56	c.56G>A	c.(55-57)cGt>cAt	p.R19H	MAGEB18_uc004dbq.2_Missense_Mutation_p.R19H	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	19							protein binding	p.R19H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CACCAGGCTCGTTGTGAGAAT	0.532													A	26157158	G	A	26157158	3	1	5	1	0	0	0	0	1	0	0	0	9175	1145	40	1	58	1	MAGEB18	23	26157158	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		26157158	129113402	78	345											
CXorf48	54967	broad.mit.edu	37	X	134294392	134294392	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chrX:134294392T>C	uc004eyk.1	-	2	1024	c.368A>G	c.(367-369)gAa>gGa	p.E123G	CXorf48_uc004eyl.1_Missense_Mutation_p.E123G	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA.	123										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AATATTATCTTCATTTATAGA	0.308													C	134294392	T	C	134294392	3	2	5	1	0	0	0	0	1	0	0	0	4111	1783	62	4	446	4	CXorf48	23	134294392	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	108137234	134294392	20976168	79	346											
PHACTR4	65979	broad.mit.edu	37	1	28800112	28800112	+	Silent	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:28800112G>A	uc001bpy.3	+	5	1135	c.900G>A	c.(898-900)ccG>ccA	p.P300P	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Silent_p.P290P|PHACTR4_uc001bpx.3_Silent_p.P274P	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	290	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TATCAAAACCGTCCCCACCCT	0.463													A	28800112	G	A	28800112	2	1	6	1	0	0	0	0	0	0	0	1	11812	1132	40	1		1	PHACTR4	1	28800112	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08		28800112	220450509	1	347											
C1orf141	400757	broad.mit.edu	37	1	67561965	67561965	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:67561965A>G	uc001ddl.1	-	4	497	c.386T>C	c.(385-387)gTt>gCt	p.V129A	C1orf141_uc001ddm.1_Missense_Mutation_p.V129A|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	129										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TAAGAGACCAACAGAATCCAA	0.259													G	67561965	A	G	67561965	3	3	6	1	0	0	0	0	1	0	0	0	2001	43	2	4	828	4	C1orf141	1	67561965	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	38761853	67561965	181688656	2	348											
WDR63	126820	broad.mit.edu	37	1	85551548	85551548	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:85551548T>A	uc001dkt.3	+	6	766	c.575T>A	c.(574-576)tTt>tAt	p.F192Y	WDR63_uc009wcl.3_Missense_Mutation_p.F192Y	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	192										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CGAAGTGAATTTGGTGCACCA	0.353													A	85551548	T	A	85551548	3	1	6	1	0	0	0	0	1	0	0	0	17311	1841	64	5	597	5	WDR63	1	85551548	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	17989583	85551548	163699073	3	349											
PGLYRP4	57115	broad.mit.edu	37	1	153313050	153313050	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:153313050G>C	uc001fbo.3	-	6	696	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	PGLYRP4_uc001fbp.3_Missense_Mutation_p.P207A	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	211					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			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)			ACAACGCCGGGGCAAGCTGAG	0.587													C	153313050	G	C	153313050	3	2	6	1	0	0	0	0	1	0	0	0	11796	1232	43	5	502	5	PGLYRP4	1	153313050	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	67761502	153313050	95937571	4	350											
KIFAP3	22920	broad.mit.edu	37	1	169951166	169951166	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:169951166G>A	uc001ggv.3	-	14	2016	c.1745C>T	c.(1744-1746)gCt>gTt	p.A582V	KIFAP3_uc021pep.1_Missense_Mutation_p.A542V|KIFAP3_uc010ply.2_Missense_Mutation_p.A504V|KIFAP3_uc001ggw.2_Missense_Mutation_p.A538V|KIFAP3_uc010plx.2_Missense_Mutation_p.A284V	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	582					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.A582V(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGCAATGCAGCACAAGAGTC	0.343													A	169951166	G	A	169951166	3	1	6	1	0	0	0	0	1	0	0	0	8311	971	34	3	657	3	KIFAP3	1	169951166	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	16638116	169951166	79299455	5	351											
APOB	338	broad.mit.edu	37	2	21230155	21230155	+	Missense_Mutation	SNP	C	C	G	rs141840973		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:21230155C>G	uc002red.3	-	25	9713	c.9585G>C	c.(9583-9585)gaG>gaC	p.E3195D		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3195	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.E3195Q(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACTGATAAACTCACAAAGCA	0.323													G	21230155	C	G	21230155	3	3	6	1	0	0	0	0	1	0	0	0	785	564	20	5	4122	5	APOB	2	21230155	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08		21230155	221969218	6	352											
APOB	338	broad.mit.edu	37	2	21246441	21246441	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:21246441T>C	uc002red.3	-	16	2688	c.2560A>G	c.(2560-2562)Att>Gtt	p.I854V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	854					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCGGGAGCAATGACTCCAGAT	0.423													C	21246441	T	C	21246441	3	2	6	1	0	0	0	0	1	0	0	0	785	1464	51	4	11183	4	APOB	2	21246441	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	16286	21246441	221952932	7	353											
SPTBN1	6711	broad.mit.edu	37	2	54857158	54857158	+	Silent	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:54857158C>A	uc002rxu.3	+	14	3048	c.2799C>A	c.(2797-2799)ctC>ctA	p.L933L	SPTBN1_uc002rxx.3_Silent_p.L920L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	933					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGACAAACTCAACACAAGGT	0.582													A	54857158	C	A	54857158	2	1	6	1	0	0	0	0	0	0	0	1	15118	813	29	5		5	SPTBN1	2	54857158	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08	33610717	54857158	188342215	8	354											
WDR33	55339	broad.mit.edu	37	2	128471476	128471476	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:128471476T>C	uc002tpg.2	-	17	3188	c.2989A>G	c.(2989-2991)Agg>Ggg	p.R997G		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	997					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGACCCCTGCAGTCCTGG	0.647													C	128471476	T	C	128471476	3	2	6	1	0	0	0	0	1	0	0	0	17284	1579	55	4	1041	4	WDR33	2	128471476	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	73614318	128471476	114727897	9	355											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	6	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	80641636	209113112	34086261	10	356											
CHL1	10752	broad.mit.edu	37	3	367748	367748	+	Splice_Site	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:367748G>A	uc003bot.3	+	4	839	c.197_splice	c.e4+1	p.T66_splice	CHL1_uc003bou.3_Splice_Site_p.T66_splice|CHL1_uc003bow.2_Splice_Site_p.T66_splice|CHL1_uc011asi.2_Splice_Site_p.T66_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	66	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				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)		CAGAACCAACGTGAGTATTGT	0.393													A	367748	G	A	367748	5	1	6	1	0	0	0	0	0	0	1	0	3349	1159	40	1	204	1	CHL1	3	367748	Splice_Site	SNP	G	TCGA-02-2483-01A-01D-1494-08		367748	197654682	11	357											
ATP2B2	491	broad.mit.edu	37	3	10491052	10491052	+	Missense_Mutation	SNP	C	C	T	rs149328739		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:10491052C>T	uc003bvt.3	-	1	615	c.176G>A	c.(175-177)cGc>cAc	p.R59H	ATP2B2_uc003bvv.3_Missense_Mutation_p.R59H|ATP2B2_uc003bvw.3_Missense_Mutation_p.R59H|ATP2B2_uc010hdp.2_Missense_Mutation_p.R59H	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	59					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.R59C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTTTTGAGGCGCCGGCAGAT	0.562													T	10491052	C	T	10491052	3	4	6	1	0	0	0	0	1	0	0	0	1140	768	27	1	3643	1	ATP2B2	3	10491052	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	10123304	10491052	187531378	12	358											
ZNF385D	79750	broad.mit.edu	37	3	21706493	21706493	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:21706493G>A	uc003cce.3	-	1	458	c.50C>T	c.(49-51)cCg>cTg	p.P17L	ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	17						nucleus	nucleic acid binding|zinc ion binding	p.L16I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GACAAGGGCCGGGAGAGCAGG	0.517													A	21706493	G	A	21706493	3	1	6	1	0	0	0	0	1	0	0	0	17875	1116	39	2	1165	2	ZNF385D	3	21706493	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	11215441	21706493	176315937	13	359											
TOMM70A	9868	broad.mit.edu	37	3	100105109	100105109	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:100105109C>T	uc003dtw.3	-	2	1027	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	193					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.R193C(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GGCTTTTGCACGTCTAAAGAG	0.323													T	100105109	C	T	100105109	3	4	6	1	0	0	0	0	1	0	0	0	16359	536	19	1	1288	1	TOMM70A	3	100105109	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	78398616	100105109	97917321	14	360											
LRRC31	79782	broad.mit.edu	37	3	169572742	169572742	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:169572742G>T	uc003fgc.1	-	5	915	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	LRRC31_uc010hwp.1_Missense_Mutation_p.L228M	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	284										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AATTTCCTCAGCTCACCCAAA	0.458													T	169572742	G	T	169572742	3	4	6	1	0	0	0	0	1	0	0	0	8986	962	34	5	824	5	LRRC31	3	169572742	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	69467633	169572742	28449688	15	361											
PLD1	5337	broad.mit.edu	37	3	171426553	171426553	+	Silent	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:171426553T>C	uc003fhs.3	-	10	1484	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	PLD1_uc003fht.3_Silent_p.T379T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	379					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCACCAGTCTGTGATAAAAA	0.348													C	171426553	T	C	171426553	2	2	6	1	0	0	0	0	0	0	0	1	12045	1567	55	4		4	PLD1	3	171426553	Silent	SNP	T	TCGA-02-2483-01A-01D-1494-08	1853811	171426553	26595877	16	362											
KCTD8	386617	broad.mit.edu	37	4	44176993	44176993	+	Silent	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr4:44176993G>T	uc003gwu.3	-	1	1520	c.1236C>A	c.(1234-1236)ctC>ctA	p.L412L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	412						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGGTCTGAAAGAGTTCACTGT	0.438										HNSCC(17;0.042)			T	44176993	G	T	44176993	2	4	6	1	0	0	0	0	0	0	0	1	8115	929	33	5		5	KCTD8	4	44176993	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08		44176993	146977283	17	363											
ADAMTS3	9508	broad.mit.edu	37	4	73175150	73175150	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr4:73175150C>T	uc003hgk.2	-	14	2180	c.2143G>A	c.(2143-2145)Gtg>Atg	p.V715M	ADAMTS3_uc003hgl.3_Missense_Mutation_p.V56M	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	715	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.V715V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCCCCTTCACGGTTCGGCAG	0.433													T	73175150	C	T	73175150	3	4	6	1	0	0	0	0	1	0	0	0	267	536	19	1	1506	1	ADAMTS3	4	73175150	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	28998157	73175150	117979126	18	364											
UGT3A2	167127	broad.mit.edu	37	5	36048994	36048994	+	Silent	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr5:36048994T>C	uc003jjz.2	-	3	972	c.840A>G	c.(838-840)ccA>ccG	p.P280P	UGT3A2_uc011cos.2_Silent_p.P246P|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	280						integral to membrane	glucuronosyltransferase activity			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)			CACTTACTTGTGGTACTGGTT	0.463													C	36048994	T	C	36048994	2	2	6	1	0	0	0	0	0	0	0	1	16961	1683	59	4		4	UGT3A2	5	36048994	Silent	SNP	T	TCGA-02-2483-01A-01D-1494-08		36048994	144866266	19	365											
NNT	23530	broad.mit.edu	37	5	43653189	43653189	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr5:43653189C>A	uc003joe.3	+	13	2188	c.1933C>A	c.(1933-1935)Cgt>Agt	p.R645S	NNT_uc003jof.3_Missense_Mutation_p.R645S	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	645					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGGAACAGCACGTCTTGGCAA	0.542													A	43653189	C	A	43653189	3	1	6	1	0	0	0	0	1	0	0	0	10510	536	19	5	1983	5	NNT	5	43653189	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	7604195	43653189	137262071	20	366											
GFRAL	389400	broad.mit.edu	37	6	55223736	55223736	+	Missense_Mutation	SNP	A	A	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr6:55223736A>T	uc003pcm.1	+	5	838	c.752A>T	c.(751-753)aAg>aTg	p.K251M		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	251						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGACTAGAAAGTGCCATGAA	0.393													T	55223736	A	T	55223736	3	4	6	1	0	0	0	0	1	0	0	0	6351	72	3	5	774	5	GFRAL	6	55223736	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08		55223736	115891331	21	367											
CCDC146	57639	broad.mit.edu	37	7	76883866	76883866	+	Missense_Mutation	SNP	A	A	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:76883866A>T	uc003uga.3	+	4	620	c.493A>T	c.(493-495)Ata>Tta	p.I165L		NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	165										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTTGAGAAGATAACAAAGCC	0.279													T	76883866	A	T	76883866	3	4	6	1	0	0	0	0	1	0	0	0	2780	333	12	5	507	5	CCDC146	7	76883866	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08		76883866	82254797	22	368											
SEMA3C	10512	broad.mit.edu	37	7	80387714	80387714	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:80387714G>C	uc011kgw.2	-	14	1709	c.1630C>G	c.(1630-1632)Ctg>Gtg	p.L544V	SEMA3C_uc003uhj.3_Missense_Mutation_p.L526V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	526					immune response|response to drug	membrane	receptor activity	p.P544T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCCGCGCCAGGCAGCAGTCA	0.522													C	80387714	G	C	80387714	3	2	6	1	0	0	0	0	1	0	0	0	14026	991	35	5	695	5	SEMA3C	7	80387714	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	3503848	80387714	78750949	23	369											
PCLO	27445	broad.mit.edu	37	7	82532013	82532013	+	Silent	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:82532013G>A	uc003uhx.2	-	8	13771	c.13482C>T	c.(13480-13482)caC>caT	p.H4494H	PCLO_uc003uhv.2_Silent_p.H4494H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4425					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						TTATCCTTGCGTGAGGAAAGA	0.303													A	82532013	G	A	82532013	2	1	6	1	0	0	0	0	0	0	0	1	11583	1136	40	1		1	PCLO	7	82532013	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08	2144299	82532013	76606650	24	370											
FIS1	51024	broad.mit.edu	37	7	100884131	100884131	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:100884131C>T	uc003uyj.4	-	2	321	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	CLDN15_uc003uyg.2_5'Flank|CLDN15_uc003uyh.2_5'Flank|FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Non-coding_Transcript	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN	Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.	79					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TAGTTCCCCACGGCCAGGTAG	0.602													T	100884131	C	T	100884131	3	4	6	1	0	0	0	0	1	0	0	0	5897	536	19	1	235	1	FIS1	7	100884131	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	18352118	100884131	58254532	25	371											
HIPK2	28996	broad.mit.edu	37	7	139281490	139281490	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:139281490T>C	uc003vvf.4	-	11	2961	c.2690A>G	c.(2689-2691)gAg>gGg	p.E897G	HIPK2_uc003vvd.4_Missense_Mutation_p.E870G	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	897	Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGTTCCTCCTCCTCGTCCGT	0.602													C	139281490	T	C	139281490	3	2	6	1	0	0	0	0	1	0	0	0	7117	1551	54	4	922	4	HIPK2	7	139281490	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	38397359	139281490	19857173	26	372											
TRPV6	55503	broad.mit.edu	37	7	142571454	142571454	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:142571454A>G	uc003wbx.2	-	12	1764	c.1535T>C	c.(1534-1536)tTc>tCc	p.F512S	TRPV6_uc003wbw.1_Missense_Mutation_p.F298S|TRPV6_uc010lou.1_Missense_Mutation_p.F383S	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	512					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTCTGTCTGGAAGATGATATA	0.597													G	142571454	A	G	142571454	3	3	6	1	0	0	0	0	1	0	0	0	16597	246	9	4	654	4	TRPV6	7	142571454	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	3289964	142571454	16567209	27	373											
SLCO5A1	81796	broad.mit.edu	37	8	70594552	70594552	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:70594552T>C	uc003xyl.3	-	6	2356	c.1649A>G	c.(1648-1650)aAt>aGt	p.N550S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.N495S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.N550S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	550	Kazal-like.					integral to membrane|plasma membrane	transporter activity			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)			TCCTGTCAGATTCCTATGGGG	0.403													C	70594552	T	C	70594552	3	2	6	1	0	0	0	0	1	0	0	0	14731	1493	52	4	913	4	SLCO5A1	8	70594552	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		70594552	75769470	28	374											
FBXO43	286151	broad.mit.edu	37	8	101153144	101153144	+	Silent	SNP	T	T	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:101153144T>G	uc003yjd.3	-	1	2074	c.1338A>C	c.(1336-1338)gtA>gtC	p.V446V	FBXO43_uc003yje.3_Silent_p.V412V|FBXO43_uc010mbp.2_Silent_p.V446V	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	446					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACAGCTCATGTACCAATTGCA	0.433													G	101153144	T	G	101153144	2	3	6	1	0	0	0	0	0	0	0	1	5752	1625	57	5		5	FBXO43	8	101153144	Silent	SNP	T	TCGA-02-2483-01A-01D-1494-08	30558592	101153144	45210878	29	375											
FZD6	8323	broad.mit.edu	37	8	104337555	104337555	+	Silent	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:104337555A>G	uc003ylh.3	+	3	1511	c.1221A>G	c.(1219-1221)caA>caG	p.Q407Q	FZD6_uc011lhn.2_Silent_p.Q375Q|FZD6_uc003ylj.3_Silent_p.Q407Q|FZD6_uc011lho.2_Silent_p.Q102Q|FZD6_uc011lhp.2_Silent_p.Q352Q	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	407					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCCGGAACCAAGAAAAACTAA	0.408													G	104337555	A	G	104337555	2	3	6	1	0	0	0	0	0	0	0	1	6134	69	3	4		4	FZD6	8	104337555	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08	3184411	104337555	42026467	30	376											
TTC35	9694	broad.mit.edu	37	8	109468130	109468130	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:109468130A>G	uc003ymw.1	+	4	369	c.334A>G	c.(334-336)Agg>Ggg	p.R112G		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	112						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			GCTATATGATAGGATTTTACA	0.234													G	109468130	A	G	109468130	3	3	6	1	0	0	0	0	1	0	0	0	16700	411	15	4	352	4	TTC35	8	109468130	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	5130575	109468130	36895892	31	377											
TAF2	6873	broad.mit.edu	37	8	120744252	120744252	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:120744252T>C	uc003you.3	-	25	3782	c.3512A>G	c.(3511-3513)cAt>cGt	p.H1171R		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	1171	His-rich.|Lys-rich.				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTACTGTCATGCTTATGCTT	0.458													C	120744252	T	C	120744252	3	2	6	1	0	0	0	0	1	0	0	0	15521	1464	51	4	91	4	TAF2	8	120744252	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	11276122	120744252	25619770	32	378											
SLC35D2	11046	broad.mit.edu	37	9	99084300	99084300	+	Silent	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr9:99084300G>A	uc004awc.3	-	10	970	c.894C>T	c.(892-894)aaC>aaT	p.N298N	SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.N210N	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.	298						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ACCCTACAAAGTTTAACAAAG	0.343													A	99084300	G	A	99084300	2	1	6	1	0	0	0	0	0	0	0	1	14582	1020	36	3		3	SLC35D2	9	99084300	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08		99084300	42129131	33	379											
RALGDS	5900	broad.mit.edu	37	9	135983521	135983521	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr9:135983521G>T	uc004cco.3	-	5	1071	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.L339M|RALGDS_uc004ccr.3_Missense_Mutation_p.L350M|RALGDS_uc011mcv.2_Missense_Mutation_p.L322M|RALGDS_uc004ccs.3_Missense_Mutation_p.L296M|RALGDS_uc011mcw.2_Missense_Mutation_p.L422M|RALGDS_uc004ccv.1_Missense_Mutation_p.L120M|RALGDS_uc004ccu.1_Missense_Mutation_p.L120M	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	351					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTGGCTCCAGCTCTAGAGTT	0.582			T	CIITA	"PMBL, Hodgkin Lymphona, "								T	135983521	G	T	135983521	3	4	6	1	0	0	0	0	1	0	0	0	13016	962	34	5	1745	5	RALGDS	9	135983521	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	36899221	135983521	5229910	34	380											
ANKRD26	22852	broad.mit.edu	37	10	27350076	27350076	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:27350076T>C	uc009xku.1	-	12	1631	c.1459A>G	c.(1459-1461)Atg>Gtg	p.M487V	ANKRD26_uc001itg.2_Intron|ANKRD26_uc001ith.2_Missense_Mutation_p.M487V	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	487						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCATACCCATGTGGGCTACT	0.348													C	27350076	T	C	27350076	3	2	6	1	0	0	0	0	1	0	0	0	654	1464	51	4	3761	4	ANKRD26	10	27350076	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		27350076	108184671	35	381											
MPP7	143098	broad.mit.edu	37	10	28409253	28409254	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:28409253_28409254CA>AG	uc001iua.1	-	11	1160_1161	c.756_757TG>CT	c.(754-759)gctggg>gcCTgg	p.G253W	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.G253W|MPP7_uc009xla.2_Missense_Mutation_p.G253W|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	253	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAAGAAAGCCCAGCTTCCTTAC	0.406													AG	28409254	CA	AG	28409253	3	1	6	1	0	0	0	0	1	0	0	0	9739	594	21	5	1005	5	MPP7	10	28409253	Missense_Mutation	DNP	CA	TCGA-02-2483-01A-01D-1494-08	1059177	28409253	107125494	36	382											
BMS1	9790	broad.mit.edu	37	10	43316067	43316067	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:43316067G>C	uc001jaj.3	+	16	3239	c.2881G>C	c.(2881-2883)Gac>Cac	p.D961H		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	961					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTATATCGAAGACCACAATGG	0.428													C	43316067	G	C	43316067	3	2	6	1	0	0	0	0	1	0	0	0	1472	942	33	5	2943	5	BMS1	10	43316067	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	14906814	43316067	92218680	37	383											
BICC1	80114	broad.mit.edu	37	10	60553292	60553292	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:60553292G>A	uc001jki.1	+	8	1096	c.1096G>A	c.(1096-1098)Gta>Ata	p.V366I	BICC1_uc001jkj.1_Missense_Mutation_p.V7I	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	366					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGAAATTGAAGTAGATCCACA	0.368													A	60553292	G	A	60553292	3	1	6	1	0	0	0	0	1	0	0	0	1427	1029	36	3	1130	3	BICC1	10	60553292	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	17237225	60553292	74981455	38	384											
OR5L1	219437	broad.mit.edu	37	11	55579759	55579759	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:55579759G>T	uc001nhw.1	+	0	817	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCTGACAAAGTGGCCACCGT	0.473													T	55579759	G	T	55579759	3	4	6	1	0	0	0	0	1	0	0	0	11170	1029	36	5	819	5	OR5L1	11	55579759	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08		55579759	79426757	39	385											
OR5B12	390191	broad.mit.edu	37	11	58207194	58207194	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:58207194A>G	uc010rkh.2	-	0	453	c.431T>C	c.(430-432)aTa>aCa	p.I144T		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGGAGCCTATGGCCAGGCA	0.463													G	58207194	A	G	58207194	3	3	6	1	0	0	0	0	1	0	0	0	11148	449	16	4	517	4	OR5B12	11	58207194	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	2627435	58207194	76799322	40	386											
IGHMBP2	3508	broad.mit.edu	37	11	68704092	68704092	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:68704092G>A	uc001ook.1	+	12	2246	c.2144G>A	c.(2143-2145)gGc>gAc	p.G715D	IGHMBP2_uc001ool.1_Missense_Mutation_p.G339D|IGHMBP2_uc001oom.1_Missense_Mutation_p.G293D	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	715					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCAACGGAGGCAGCCCAGAG	0.617													A	68704092	G	A	68704092	3	1	6	1	0	0	0	0	1	0	0	0	7591	1203	42	3	2194	3	IGHMBP2	11	68704092	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	10496898	68704092	66302424	41	387											
TMEM133	83935	broad.mit.edu	37	11	100863381	100863381	+	Silent	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:100863381G>T	uc001pgf.3	+	0	571	c.342G>T	c.(340-342)gtG>gtT	p.V114V		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	114						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TTCAAAATGTGCCAGTTCCAC	0.373													T	100863381	G	T	100863381	2	4	6	1	0	0	0	0	0	0	0	1	16046	1306	46	5		5	TMEM133	11	100863381	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08	32159289	100863381	34143135	42	388											
TAS2R9	50835	broad.mit.edu	37	12	10962585	10962585	+	Silent	SNP	A	A	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:10962585A>T	uc001qyx.3	-	0	183	c.90T>A	c.(88-90)gtT>gtA	p.V30V		NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	30					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAATGCAGTTAACTAGTACAA	0.388													T	10962585	A	T	10962585	2	4	6	1	0	0	0	0	0	0	0	1	15585	349	13	5		5	TAS2R9	12	10962585	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08		10962585	122889310	43	389											
BIN2	51411	broad.mit.edu	37	12	51685543	51685543	+	Silent	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:51685543C>T	uc001ryg.3	-	9	1399	c.1347G>A	c.(1345-1347)agG>agA	p.R449R	BIN2_uc009zlz.3_Silent_p.R417R|BIN2_uc001ryh.3_Silent_p.R325R|BIN2_uc010sng.2_Silent_p.R423R	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	449	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCAAGGAGGCCCTAGGGCTGG	0.612													T	51685543	C	T	51685543	2	4	6	1	0	0	0	0	0	0	0	1	1433	622	22	3		3	BIN2	12	51685543	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08	40722958	51685543	82166352	44	390											
R3HDM2	22864	broad.mit.edu	37	12	57648757	57648757	+	Silent	SNP	A	A	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:57648757A>C	uc009zpm.1	-	21	2765	c.2730T>G	c.(2728-2730)ggT>ggG	p.G910G	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.G605G|R3HDM2_uc001snr.2_Silent_p.G637G|R3HDM2_uc001sns.2_Silent_p.G910G|R3HDM2_uc001snt.2_Silent_p.G924G	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	910	Poly-Gly.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGTCCCCCCCACCCCCTCCAG	0.632													C	57648757	A	C	57648757	2	2	6	1	0	0	0	0	0	0	0	1	12888	146	6	5		5	R3HDM2	12	57648757	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08	5963214	57648757	76203138	45	391											
IRAK3	11213	broad.mit.edu	37	12	66638935	66638935	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:66638935C>A	uc001sth.3	+	10	1309	c.1207C>A	c.(1207-1209)Cta>Ata	p.L403I	IRAK3_uc010ssy.2_Missense_Mutation_p.L342I	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	403	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCTCTCATTTCTAGATAAGAA	0.478													A	66638935	C	A	66638935	3	1	6	1	0	0	0	0	1	0	0	0	7824	912	32	5	1249	5	IRAK3	12	66638935	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	8990178	66638935	67212960	46	392											
ATP11A	23250	broad.mit.edu	37	13	113510350	113510350	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr13:113510350G>A	uc001vsj.4	+	19	2457	c.2369G>A	c.(2368-2370)aGc>aAc	p.S790N	ATP11A_uc001vsi.4_Missense_Mutation_p.S790N|ATP11A_uc001vsm.1_Missense_Mutation_p.S666N|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	790					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCTGCCGGAGCTGCAGCGCG	0.597													A	113510350	G	A	113510350	3	1	6	1	0	0	0	0	1	0	0	0	1119	971	34	3	2447	3	ATP11A	13	113510350	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08		113510350	1659528	47	393											
DCAF11	80344	broad.mit.edu	37	14	24588926	24588926	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr14:24588926T>C	uc001wlv.3	+	10	1193	c.913T>C	c.(913-915)Tcc>Ccc	p.S305P	DCAF11_uc001wlw.3_Missense_Mutation_p.S305P|DCAF11_uc001wlz.3_Missense_Mutation_p.S205P|DCAF11_uc001wly.3_Missense_Mutation_p.S261P|DCAF11_uc010tny.2_Missense_Mutation_p.S172P|DCAF11_uc001wmc.3_Missense_Mutation_p.S205P|DCAF11_uc001wmb.4_Missense_Mutation_p.S279P|DCAF11_uc001wma.4_Missense_Mutation_p.S305P	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	305						CUL4 RING ubiquitin ligase complex	protein binding										CTAGATTGAGTCCCATGAGGA	0.483													C	24588926	T	C	24588926	3	2	6	1	0	0	0	0	1	0	0	0	4262	1667	58	4	951	4	DCAF11	14	24588926	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		24588926	82760614	48	394											
GRAMD2	196996	broad.mit.edu	37	15	72460907	72460907	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:72460907T>C	uc002atq.3	-	4	217	c.193_splice	c.e4-1	p.I65_splice	GRAMD2_uc010bis.2_Splice_Site_p.I65_splice	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	65						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTCAGTGTTATCTGCAAACAC	0.542													C	72460907	T	C	72460907	3	2	6	1	0	0	0	0	1	0	0	0	6750	1449	50	4	907	4	GRAMD2	15	72460907	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		72460907	30070485	49	395											
IDH3A	3419	broad.mit.edu	37	15	78454015	78454015	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:78454015G>T	uc002bdd.3	+	4	409	c.382G>T	c.(382-384)Gtc>Ttc	p.V128F	IDH3A_uc010umt.2_Intron|IDH3A_uc010umu.2_Missense_Mutation_p.V19F|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.V78F|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.V41F	NM_005530	NP_005521	P50213	IDH3A_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA.	128					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CCGACCATGTGTCTCTATCGA	0.443													T	78454015	G	T	78454015	3	4	6	1	0	0	0	0	1	0	0	0	7496	1377	48	5	400	5	IDH3A	15	78454015	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	5993108	78454015	24077377	50	396											
PARN	5073	broad.mit.edu	37	16	14704541	14704541	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr16:14704541T>C	uc010uzd.2	-	6	660	c.514A>G	c.(514-516)Acg>Gcg	p.T172A	PARN_uc010uzc.2_Missense_Mutation_p.T111A|PARN_uc010uze.2_Missense_Mutation_p.T126A|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	172					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TCAGGAATCGTGACAGGACAT	0.408													C	14704541	T	C	14704541	3	2	6	1	0	0	0	0	1	0	0	0	11453	1696	59	4	1477	4	PARN	16	14704541	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		14704541	75650212	51	397											
ZNF646	9726	broad.mit.edu	37	16	31087887	31087887	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr16:31087887G>A	uc002eap.3	+	1	531	c.242G>A	c.(241-243)gGc>gAc	p.G81D	ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.G81D	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACCACCTGTGGCAAGGACTTC	0.627													A	31087887	G	A	31087887	3	1	6	1	0	0	0	0	1	0	0	0	18059	1203	42	3	244	3	ZNF646	16	31087887	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	16383346	31087887	59266866	52	398											
NXN	64359	broad.mit.edu	37	17	722696	722696	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:722696C>T	uc002fsa.3	-	4	883	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	NXN_uc002fsb.1_Missense_Mutation_p.R155Q|NXN_uc010vqd.2_Missense_Mutation_p.R19Q|NXN_uc010vqe.2_Missense_Mutation_p.R160Q	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	268	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCGTACAGCCGGTTGAGGCG	0.607													T	722696	C	T	722696	3	4	6	1	0	0	0	0	1	0	0	0	10787	652	23	2	520	2	NXN	17	722696	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08		722696	80472514	53	399											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			T	7577120	C	T	7577120	3	4	6	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	6854424	7577120	73618090	54	400											
KRT9	3857	broad.mit.edu	37	17	39727935	39727935	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:39727935C>T	uc002hxe.4	-	0	376	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	104	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ctactatagcctcctccagaa	0.572													T	39727935	C	T	39727935	3	4	6	1	0	0	0	0	1	0	0	0	8501	681	24	3	1589	3	KRT9	17	39727935	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	32150815	39727935	41467275	55	401											
ABCA9	10350	broad.mit.edu	37	17	67012462	67012462	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:67012462T>C	uc002jhu.3	-	21	3114	c.2971A>G	c.(2971-2973)Agc>Ggc	p.S991G	ABCA9_uc010dez.3_Missense_Mutation_p.S991G	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	991					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGTCCATTGCTAATGACATCC	0.348													C	67012462	T	C	67012462	3	2	6	1	0	0	0	0	1	0	0	0	39	1522	53	4	1975	4	ABCA9	17	67012462	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	27284527	67012462	14182748	56	402											
RECQL5	9400	broad.mit.edu	37	17	73627684	73627684	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:73627684C>T	uc010dgl.3	-	8	1503	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	RECQL5_uc010dgk.3_Missense_Mutation_p.D405N|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	432					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCAGTGGTCGCAGCCTTTG	0.701								Other identified genes with known or suspected DNA repair function					T	73627684	C	T	73627684	3	4	6	1	0	0	0	0	1	0	0	0	13203	884	31	2	1729	2	RECQL5	17	73627684	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	6615222	73627684	7567526	57	403											
NDUFV2	4729	broad.mit.edu	37	18	9124948	9124948	+	Silent	SNP	C	C	T	rs143576401	byFrequency	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr18:9124948C>T	uc002knu.3	+	5	660	c.546C>T	c.(544-546)aaC>aaT	p.N182N		NM_021074	NP_066552	P19404	NDUV2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA.	182					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	CCTGTGTGAACGCACCAATGG	0.313													T	9124948	C	T	9124948	2	4	6	1	0	0	0	0	0	0	0	1	10300	535	19	1		1	NDUFV2	18	9124948	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08		9124948	68952300	58	404											
GRIN3B	116444	broad.mit.edu	37	19	1004870	1004870	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:1004870A>G	uc002lqo.1	+	2	1370	c.1370A>G	c.(1369-1371)gAc>gGc	p.D457G		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	457					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCCACCCTGGACGCACTGTTC	0.672													G	1004870	A	G	1004870	3	3	6	1	0	0	0	0	1	0	0	0	6784	275	10	4	1380	4	GRIN3B	19	1004870	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08		1004870	58124113	59	405											
PTPRS	5802	broad.mit.edu	37	19	5211663	5211663	+	Silent	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:5211663C>T	uc002mbv.3	-	32	5406	c.5172G>A	c.(5170-5172)ctG>ctA	p.L1724L	PTPRS_uc002mbu.1_Silent_p.L1293L|PTPRS_uc010xin.2_Silent_p.L1266L|PTPRS_uc002mbw.3_Silent_p.L1686L|PTPRS_uc002mbx.3_Silent_p.L1281L|PTPRS_uc002mby.3_Silent_p.L1277L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1724	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGATGGGTTGCAGACAGACCC	0.562													T	5211663	C	T	5211663	2	4	6	1	0	0	0	0	0	0	0	1	12811	697	25	3		3	PTPRS	19	5211663	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08	4206793	5211663	53917320	60	406											
C3	718	broad.mit.edu	37	19	6711035	6711035	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:6711035C>T	uc002mfm.3	-	11	1504	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	481					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCGTGGGCGCGGTCCATTCG	0.607													T	6711035	C	T	6711035	3	4	6	1	0	0	0	0	1	0	0	0	2204	768	27	1	3669	1	C3	19	6711035	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	1499372	6711035	52417948	61	407											
PDE4C	5143	broad.mit.edu	37	19	18331288	18331288	+	Silent	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:18331288G>A	uc010xqc.2	-	5	1113	c.633C>T	c.(631-633)gaC>gaT	p.D211D	PDE4C_uc002nik.4_Silent_p.D211D|PDE4C_uc002nil.4_Silent_p.D211D|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Silent_p.D105D|PDE4C_uc002nii.4_Silent_p.D179D|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript|PDE4C_uc002nim.1_Nonsense_Mutation_p.R195*	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	211				D -> Y (in Ref. 2; AAD47053/AAD47054).	signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	AGTCCAGCTCGTCTAGCGTCT	0.672													A	18331288	G	A	18331288	2	1	6	1	0	0	0	0	0	0	0	1	11641	1136	40	1		1	PDE4C	19	18331288	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08	11620253	18331288	40797695	62	408											
SBSN	374897	broad.mit.edu	37	19	36017633	36017633	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:36017633G>T	uc002oad.2	-	0	1621	c.1551C>A	c.(1549-1551)caC>caA	p.H517Q	SBSN_uc002oae.2_Missense_Mutation_p.H174Q|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	174						extracellular region				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)			CAGCAGCATGGTGGGCACCTT	0.582													T	36017633	G	T	36017633	3	4	6	1	0	0	0	0	1	0	0	0	13864	1252	44	5	237	5	SBSN	19	36017633	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	17686345	36017633	23111350	63	409											
ZNF569	148266	broad.mit.edu	37	19	37904719	37904719	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:37904719G>T	uc002ogj.3	-	8	1845	c.913C>A	c.(913-915)Cag>Aag	p.Q305K	ZNF569_uc002ogh.3_Missense_Mutation_p.Q122K|ZNF569_uc002ogi.3_Missense_Mutation_p.Q281K	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K305R(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)			TTTGATTTCTGGCTGAAGGAC	0.358													T	37904719	G	T	37904719	3	4	6	1	0	0	0	0	1	0	0	0	17997	1357	47	5	1223	5	ZNF569	19	37904719	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	1887086	37904719	21224264	64	410											
ZNF155	7711	broad.mit.edu	37	19	44500816	44500816	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:44500816C>A	uc010xwt.1	+	5	1024	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ZNF155_uc002oxy.1_Missense_Mutation_p.F269L|ZNF155_uc002oxz.1_Missense_Mutation_p.F269L	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGAAGGCCTTCATTCATGATT	0.398													A	44500816	C	A	44500816	3	1	6	1	0	0	0	0	1	0	0	0	17733	825	29	5	821	5	ZNF155	19	44500816	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	6596097	44500816	14628167	65	411											
PNMAL1	55228	broad.mit.edu	37	19	46973358	46973359	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:46973358_46973359CA>AT	uc002peq.4	-	1	1240_1241	c.934_935TG>AT	c.(934-936)tgg>ATg	p.W312M	PNMAL1_uc002per.4_Missense_Mutation_p.W312M	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	312										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGGACCCTTCCAGGCACATTTC	0.584													AT	46973359	CA	AT	46973358	3	1	6	1	0	0	0	0	1	0	0	0	12157	595	21	5	414	5	PNMAL1	19	46973358	Missense_Mutation	DNP	CA	TCGA-02-2483-01A-01D-1494-08	2472542	46973358	12155625	66	412											
COL18A1	80781	broad.mit.edu	37	21	46925140	46925141	+	In_Frame_Ins	INS	-	-	GGCCCCCCA			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr21:46925140_46925141insGGCCCCCCA	uc002zhi.3	+	33	3522_3523	c.3501_3502insGGCCCCCCA	c.(3499-3504)insGGCCCCCCA	p.1176_1177insGPP	COL18A1_uc002zhg.3_In_Frame_Ins_p.996_997insGPP|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_5'UTR|COL18A1_uc002zhk.3_5'Flank	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1411	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGGCCCTCCCGGCCCCCCAGG	0.733													GGCCCCCCA	46925141	-	GGCCCCCCA	46925140	7	5	6	1	0	1	1	0	0	0	0	0	3675	639	23	0	4449	0	COL18A1	21	46925140	In_Frame_Ins	INS	-	TCGA-02-2483-01A-01D-1494-08		46925140	1204755	67	413											
GAS2L1	10634	broad.mit.edu	37	22	29707873	29707873	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr22:29707873G>A	uc003afa.1	+	6	1629	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.R477H|GAS2L1_uc003afd.1_Missense_Mutation_p.A478T|GAS2L1_uc003afe.1_Missense_Mutation_p.A478T	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	478					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCCCGTGCCCGCAGCCCTGCA	0.711													A	29707873	G	A	29707873	3	1	6	1	0	0	0	0	1	0	0	0	6246	1087	38	1	1454	1	GAS2L1	22	29707873	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08		29707873	21596693	68	414											
EP300	2033	broad.mit.edu	37	22	41564740	41564740	+	Silent	SNP	A	A	G			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr22:41564740A>G	uc003azl.4	+	24	4436	c.4041A>G	c.(4039-4041)ggA>ggG	p.G1347G		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1347					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGACAGTGGAGAGATGGCAG	0.433			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				G	41564740	A	G	41564740	2	3	6	1	0	0	0	0	0	0	0	1	5148	291	11	4		4	EP300	22	41564740	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08	11856867	41564740	9739826	69	415											
ATRX	546	broad.mit.edu	37	X	76849273	76849273	+	Frame_Shift_Del	DEL	C	C	-			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chrX:76849273delC	uc004ecp.4	-	25	6235	c.6003delG	c.(6001-6003)tggfs	p.W2001fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.W1963fs|ATRX_uc004eco.4_Frame_Shift_Del_p.W1786fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2001					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATCTTTGTACCAGTCTGGAG	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76849273	C	-	76849273	7	5	6	1	0	1	0	1	0	0	0	0	1208	508	18	0	1515	0	ATRX	23	76849273	Frame_Shift_Del	DEL	C	TCGA-02-2483-01A-01D-1494-08		76849273	78421287	70	416											
AFF2	2334	broad.mit.edu	37	X	147733555	147733555	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chrX:147733555G>T	uc004fcp.3	+	1	562	c.83G>T	c.(82-84)aGg>aTg	p.R28M	AFF2_uc004fco.3_Missense_Mutation_p.R28M|AFF2_uc004fcq.3_Missense_Mutation_p.R28M|AFF2_uc004fcr.3_Missense_Mutation_p.R28M|AFF2_uc011mxb.2_Missense_Mutation_p.R28M|AFF2_uc004fcs.3_Missense_Mutation_p.R28M	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	28					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAAAAAAAGGGAATGGGAG	0.363													T	147733555	G	T	147733555	3	4	6	1	0	0	0	0	1	0	0	0	357	1000	35	5	89	5	AFF2	23	147733555	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	70884282	147733555	7537005	71	417											
EPHB2	2048	broad.mit.edu	37	1	23110979	23110979	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:23110979G>A	uc009vqj.1	+	2	366	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	EPHB2_uc001bge.3_Missense_Mutation_p.R74Q|EPHB2_uc001bgf.3_Missense_Mutation_p.R74Q|EPHB2_uc010odu.2_Missense_Mutation_p.R74Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	74					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACTGGCTACGGACCAAGTTT	0.587													A	23110979	G	A	23110979	3	1	7	1	0	0	0	0	1	0	0	0	5175	1116	39	2	231	2	EPHB2	1	23110979	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		23110979	226139642	1	418											
WNT2B	7482	broad.mit.edu	37	1	113059824	113059825	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:113059824_113059825delCT	uc001ecb.3	+	3	1278_1279	c.763_764delCT	c.(763-765)ctcfs	p.L255fs	WNT2B_uc001eca.3_Frame_Shift_Del_p.L236fs|WNT2B_uc009wgg.3_Frame_Shift_Del_p.L163fs	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	255					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCGTGCACTCTCAGATTTC	0.624													-	113059825	CT	-	113059824	7	5	7	1	0	1	0	1	0	0	0	0	17384	565	20	0	910	0	WNT2B	1	113059824	Frame_Shift_Del	DEL	CT	TCGA-02-2485-01A-01D-1494-08	89948845	113059824	136190797	2	419											
FLG	2312	broad.mit.edu	37	1	152279764	152279764	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:152279764C>T	uc001ezu.1	-	2	7634	c.7598G>A	c.(7597-7599)cGt>cAt	p.R2533H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2533	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2532S(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)			TTCATGGTGACGCGACCCTGA	0.592									Ichthyosis				T	152279764	C	T	152279764	3	4	7	1	0	0	0	0	1	0	0	0	5922	536	19	1	4591	1	FLG	1	152279764	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	39219940	152279764	96970857	3	420											
FNDC4	64838	broad.mit.edu	37	2	27716857	27716857	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:27716857G>A	uc002rkx.3	-	3	800	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	GCKR_uc002rky.3_5'Flank|GCKR_uc010ezd.3_5'Flank|GCKR_uc010ylu.2_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	132	Fibronectin type-III.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					AAGTGCACCCGGGGCCCTGGG	0.607													A	27716857	G	A	27716857	3	1	7	1	0	0	0	0	1	0	0	0	5971	1115	39	2	326	2	FNDC4	2	27716857	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		27716857	215482516	4	421											
SCN3A	6328	broad.mit.edu	37	2	166019327	166019327	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:166019327T>C	uc002ucx.3	-	7	1198	c.706A>G	c.(706-708)Att>Gtt	p.I236V	SCN3A_uc002ucy.3_Missense_Mutation_p.I236V|SCN3A_uc002ucz.3_Missense_Mutation_p.I236V|SCN3A_uc002uda.1_Missense_Mutation_p.I105V|SCN3A_uc002udb.1_Missense_Mutation_p.I105V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	236						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCCCCCACAATGGTCTTTAAA	0.453													C	166019327	T	C	166019327	3	2	7	1	0	0	0	0	1	0	0	0	13918	1464	51	4	5380	4	SCN3A	2	166019327	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08	138302470	166019327	77180046	5	422											
ZNF804A	91752	broad.mit.edu	37	2	185802513	185802513	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:185802513G>A	uc002uph.3	+	3	2984	c.2390G>A	c.(2389-2391)aGg>aAg	p.R797K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	797						intracellular	zinc ion binding			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						GAATTTTTGAGGCCACCAAGT	0.383													A	185802513	G	A	185802513	3	1	7	1	0	0	0	0	1	0	0	0	18167	1000	35	3	2404	3	ZNF804A	2	185802513	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	19783186	185802513	57396860	6	423											
ANKRD44	91526	broad.mit.edu	37	2	197863059	197863059	+	Splice_Site	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:197863059A>G	uc021vuj.1	-	25	2941	c.2748_splice	c.e25+1	p.K916_splice	ANKRD44_uc002utz.4_Splice_Site_p.K623_splice|ANKRD44_uc021vuk.1_Splice_Site_p.K891_splice	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	916							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCATTTACATACTTTACTACA	0.333													G	197863059	A	G	197863059	5	3	7	1	0	0	0	0	0	0	1	0	672	405	14	4	92	4	ANKRD44	2	197863059	Splice_Site	SNP	A	TCGA-02-2485-01A-01D-1494-08	12060546	197863059	45336314	7	424											
COL6A3	1293	broad.mit.edu	37	2	238249201	238249201	+	Silent	SNP	G	G	A	rs113423040		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:238249201G>A	uc002vwl.2	-	37	8643	c.8358C>T	c.(8356-8358)ttC>ttT	p.F2786F	COL6A3_uc002vwo.2_Silent_p.F2580F|COL6A3_uc010znj.1_Silent_p.F2179F|COL6A3_uc002vwj.2_Silent_p.F167F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2786	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		GCTCACTGGCGAAGGTGTATA	0.547													A	238249201	G	A	238249201	2	1	7	1	0	0	0	0	0	0	0	1	3701	1049	37	2		2	COL6A3	2	238249201	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08	40386142	238249201	4950172	8	425											
CNTN4	152330	broad.mit.edu	37	3	3076350	3076350	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:3076350C>T	uc003bpc.3	+	16	2157	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	CNTN4_uc003bpb.1_Silent_p.D277D|CNTN4_uc021wsg.1_Silent_p.D606D|CNTN4_uc003bpd.1_Silent_p.D606D|CNTN4_uc003bpe.3_Silent_p.D278D|CNTN4_uc003bpf.3_Silent_p.D277D	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	606	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGACAATAGACGAAATCACAG	0.537													T	3076350	C	T	3076350	2	4	7	1	0	0	0	0	0	0	0	1	3643	535	19	1		1	CNTN4	3	3076350	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08		3076350	194946080	9	426											
COLQ	8292	broad.mit.edu	37	3	15512054	15512054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:15512054G>A	uc003bzx.3	-	10	832	c.706C>T	c.(706-708)Cga>Tga	p.R236*	COLQ_uc003bzv.3_Nonsense_Mutation_p.R226*|COLQ_uc010heo.3_Nonsense_Mutation_p.R202*|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Nonsense_Mutation_p.R95*	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	236	Collagen-like 1.|Heparan sulfate proteoglycan binding (Potential).				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TGCTTGCCTCGTTTTCCTGGT	0.552													A	15512054	G	A	15512054	4	1	7	1	0	0	0	0	0	1	0	0	3713	1153	40	1	689	1	COLQ	3	15512054	Nonsense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	12435704	15512054	182510376	10	427											
ROBO1	6091	broad.mit.edu	37	3	79639041	79639042	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:79639041_79639042delAG	uc003dqe.2	-	1	228_229	c.20_21delCT	c.(19-21)cctfs	p.P7fs		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	7					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.P7H(3)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGACCAAAAAAGGAACATGTTT	0.381													-	79639042	AG	-	79639041	7	5	7	1	0	1	0	1	0	0	0	0	13513	59	3	0	5126	0	ROBO1	3	79639041	Frame_Shift_Del	DEL	AG	TCGA-02-2485-01A-01D-1494-08	64126987	79639041	118383389	11	428											
PIK3CA	5290	broad.mit.edu	37	3	178916921	178916921	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:178916921A>G	uc003fjk.3	+	1	465	c.308A>G	c.(307-309)gAa>gGa	p.E103G		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	103	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAAGTAATTGAACCAGTAGGC	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916921	A	G	178916921	3	3	7	1	0	0	0	0	1	0	0	0	11913	246	9	4	310	4	PIK3CA	3	178916921	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	99277880	178916921	19105509	12	429											
HELT	391723	broad.mit.edu	37	4	185940979	185940979	+	Missense_Mutation	SNP	C	C	T	rs147187823	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr4:185940979C>T	uc011ckq.2	+	2	466	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	HELT_uc011cko.2_Missense_Mutation_p.P71S|HELT_uc003ixa.3_Missense_Mutation_p.P71S|HELT_uc011ckp.1_Missense_Mutation_p.P15S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	Homo sapiens helt bHLH transcription factor (HELT), mRNA.	156							DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGCTGATTTTCCCCGGGGAAG	0.632													T	185940979	C	T	185940979	3	4	7	1	0	0	0	0	1	0	0	0	7048	855	30	3	476	3	HELT	4	185940979	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		185940979	5213297	13	430											
SLCO6A1	133482	broad.mit.edu	37	5	101735262	101735262	+	Missense_Mutation	SNP	G	G	A	rs139495343	by1000genomes	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:101735262G>A	uc003knn.3	-	9	1983	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	SLCO6A1_uc003kno.3_Missense_Mutation_p.T351M|SLCO6A1_uc003knp.3_Missense_Mutation_p.T604M|SLCO6A1_uc003knq.3_Missense_Mutation_p.T542M	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	604						integral to membrane|plasma membrane	transporter activity	p.M603I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TACATACCGCGTCATGGCCAA	0.284													A	101735262	G	A	101735262	3	1	7	1	0	0	0	0	1	0	0	0	14732	1145	40	1	364	1	SLCO6A1	5	101735262	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		101735262	79179998	14	431											
REEP2	51308	broad.mit.edu	37	5	137781275	137781275	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:137781275G>A	uc003lda.3	+	6	806	c.684G>A	c.(682-684)gcG>gcA	p.A228A	REEP2_uc003lcz.3_Silent_p.A226A|REEP2_uc011cyt.2_Silent_p.A187A	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	226						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAAAAAAGCGCCCAAAGCTG	0.592													A	137781275	G	A	137781275	2	1	7	1	0	0	0	0	0	0	0	1	13205	1074	38	1		1	REEP2	5	137781275	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08	36046013	137781275	43133985	15	432											
PCDHAC2	56137	broad.mit.edu	37	5	140257259	140257259	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:140257259G>A	uc003lic.2	+	0	2329	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.P734P	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682													A	140257259	G	A	140257259	2	1	7	1	0	0	0	0	0	0	0	1	11533	1103	39	2		2	PCDHAC2	5	140257259	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08	2475984	140257259	40658001	16	433											
MAML1	9794	broad.mit.edu	37	5	179192466	179192466	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:179192466C>A	uc003mkm.3	+	1	718	c.455C>A	c.(454-456)tCc>tAc	p.S152Y	MAML1_uc003mkn.1_Missense_Mutation_p.S152Y	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	152					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCATCTCTTCCAATGGACTG	0.602													A	179192466	C	A	179192466	3	1	7	1	0	0	0	0	1	0	0	0	9205	855	30	5	461	5	MAML1	5	179192466	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	38935207	179192466	1722794	17	434											
DSP	1832	broad.mit.edu	37	6	7583891	7583891	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:7583891G>A	uc003mxp.1	+	23	6675	c.6396G>A	c.(6394-6396)ggG>ggA	p.G2132G	DSP_uc003mxq.1_Silent_p.G1533G|DSP_uc021yle.1_Silent_p.G1689G	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2132	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGCTTCAGGGGGTGTAGTAG	0.473													A	7583891	G	A	7583891	2	1	7	1	0	0	0	0	0	0	0	1	4781	1219	43	3		3	DSP	6	7583891	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		7583891	163531176	18	435											
JARID2	3720	broad.mit.edu	37	6	15520428	15520428	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:15520428C>T	uc003nbj.3	+	17	3931	c.3687C>T	c.(3685-3687)ccC>ccT	p.P1229P	JARID2_uc011div.2_Silent_p.P1057P	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1229					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGACGTGCCCCCCTCCCGTC	0.488													T	15520428	C	T	15520428	2	4	7	1	0	0	0	0	0	0	0	1	7945	610	22	3		3	JARID2	6	15520428	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	7936537	15520428	155594639	19	436											
HIST1H2BF	8343	broad.mit.edu	37	6	26199947	26199947	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:26199947G>A	uc003ngx.3	+	0	161	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3D_uc003ngv.3_5'Flank|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2AD_uc003ngw.3_5'Flank	NM_003522	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bf (HIST1H2BF), mRNA.	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCCGACACCGGCATCTCATCC	0.567													A	26199947	G	A	26199947	3	1	7	1	0	0	0	0	1	0	0	0	7145	1203	42	3	163	3	HIST1H2BF	6	26199947	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	10679519	26199947	144915120	20	437											
LGSN	51557	broad.mit.edu	37	6	64004847	64004847	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:64004847A>C	uc003peh.3	-	1	168	c.134T>G	c.(133-135)gTg>gGg	p.V45G	LGSN_uc003pei.3_Missense_Mutation_p.V45G|LGSN_uc003pej.1_Missense_Mutation_p.V45G	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	45					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CGTTTCTCCCACTTCAGTTGA	0.393													C	64004847	A	C	64004847	3	2	7	1	0	0	0	0	1	0	0	0	8759	159	6	5	1407	5	LGSN	6	64004847	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	37804900	64004847	107110220	21	438											
HECA	51696	broad.mit.edu	37	6	139487771	139487771	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:139487771G>A	uc003qin.3	+	1	907	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	208					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GTCTGGCTCCGAGAAGAACAC	0.592													A	139487771	G	A	139487771	3	1	7	1	0	0	0	0	1	0	0	0	7038	1059	37	2	628	2	HECA	6	139487771	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	75482924	139487771	31627296	22	439											
NOD1	10392	broad.mit.edu	37	7	30492358	30492358	+	Silent	SNP	G	G	A	rs150842987		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:30492358G>A	uc003tav.3	-	5	1198	c.675C>T	c.(673-675)gaC>gaT	p.D225D	NOD1_uc010kvs.2_Intron	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	225	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGACCCCTGCGTCTAGCCGGC	0.577													A	30492358	G	A	30492358	2	1	7	1	0	0	0	0	0	0	0	1	10516	1136	40	1		1	NOD1	7	30492358	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		30492358	128646305	23	440											
VPS41	27072	broad.mit.edu	37	7	38835094	38835094	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:38835094G>C	uc003tgy.3	-	8	714	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	VPS41_uc003tgz.3_Missense_Mutation_p.L205V|VPS41_uc010kxn.3_Intron	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	230					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCAATAATCAGTGTCACATTG	0.468													C	38835094	G	C	38835094	3	2	7	1	0	0	0	0	1	0	0	0	17207	1020	36	5	1960	5	VPS41	7	38835094	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	8342736	38835094	120303569	24	441											
POM121L12	285877	broad.mit.edu	37	7	53103860	53103860	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:53103860G>A	uc003tpz.3	+	0	512	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	166								p.A165A(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ccgccccgccgcccAGGAGCT	0.721													A	53103860	G	A	53103860	3	1	7	1	0	0	0	0	1	0	0	0	12241	1087	38	1	498	1	POM121L12	7	53103860	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	14268766	53103860	106034803	25	442											
POM121L12	285877	broad.mit.edu	37	7	53104151	53104151	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:53104151G>A	uc003tpz.3	+	0	803	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	263										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCCATCCGCCATCTGGGA	0.662													A	53104151	G	A	53104151	3	1	7	1	0	0	0	0	1	0	0	0	12241	1087	38	1	789	1	POM121L12	7	53104151	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	291	53104151	106034512	26	443											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	rs149840192		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:55221822C>A	uc003tqk.3	+	6	1112	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221822	C	A	55221822	3	1	7	1	0	0	0	0	1	0	0	0	4967	739	26	5	892	5	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	2117671	55221822	103916841	27	444											
LRWD1	222229	broad.mit.edu	37	7	102106371	102106371	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:102106371C>T	uc003uzn.3	+	1	326	c.188C>T	c.(187-189)cCg>cTg	p.P63L	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	63					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	p.P63L(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GAGACGCTGCCGGACAACCTG	0.622													T	102106371	C	T	102106371	3	4	7	1	0	0	0	0	1	0	0	0	9047	652	23	2	194	2	LRWD1	7	102106371	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	46884549	102106371	57032292	28	445											
CHRM2	1129	broad.mit.edu	37	7	136700738	136700738	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:136700738A>G	uc003vtf.1	+	3	1749	c.1126A>G	c.(1126-1128)Aag>Gag	p.K376E	CHRM2_uc003vtg.1_Missense_Mutation_p.K376E|CHRM2_uc003vti.1_Missense_Mutation_p.K376E|CHRM2_uc003vtm.1_Missense_Mutation_p.K376E|CHRM2_uc003vtj.1_Missense_Mutation_p.K376E|CHRM2_uc003vtk.1_Missense_Mutation_p.K376E|CHRM2_uc003vtl.1_Missense_Mutation_p.K376E|CHRM2_uc003vtn.1_Missense_Mutation_p.K376E|CHRM2_uc003vto.1_Missense_Mutation_p.K376E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.K376E	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	376					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGCAAAAAAGAAGCCTCCTCC	0.478													G	136700738	A	G	136700738	3	3	7	1	0	0	0	0	1	0	0	0	3377	247	9	4	1128	4	CHRM2	7	136700738	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	34594367	136700738	22437925	29	446											
RP1	6101	broad.mit.edu	37	8	55541829	55541829	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr8:55541829C>T	uc003xsd.1	+	3	5535	c.5387C>T	c.(5386-5388)aCg>aTg	p.T1796M	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1796					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.T1796M(2)|p.T1796T(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)			CCAGGCCCAACGATGGATGAA	0.448													T	55541829	C	T	55541829	3	4	7	1	0	0	0	0	1	0	0	0	13532	536	19	1	5397	1	RP1	8	55541829	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		55541829	90822193	30	447											
DOCK8	81704	broad.mit.edu	37	9	286571	286571	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:286571C>T	uc003zgf.2	+	2	379	c.267C>T	c.(265-267)gaC>gaT	p.D89D	DOCK8_uc011lls.1_Silent_p.D89D|DOCK8_uc022bcu.1_Silent_p.D21D|DOCK8_uc010mgv.3_Silent_p.D21D|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_Silent_p.D21D|DOCK8_uc003zgg.3_Silent_p.D21D|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	89					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCACTGATGACGACTTGGACG	0.507													T	286571	C	T	286571	2	4	7	1	0	0	0	0	0	0	0	1	4693	535	19	1		1	DOCK8	9	286571	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08		286571	140926860	31	448											
TMEM215	401498	broad.mit.edu	37	9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:32784414G>A	uc022bfh.1	+	0	233	c.233G>A	c.(232-234)cGc>cAc	p.R78H	TMEM215_uc003zri.4_Missense_Mutation_p.R78H	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	78						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597													A	32784414	G	A	32784414	3	1	7	1	0	0	0	0	1	0	0	0	16135	1087	38	1	235	1	TMEM215	9	32784414	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	32497843	32784414	108429017	32	449											
TDRD7	23424	broad.mit.edu	37	9	100227272	100227272	+	Silent	SNP	C	C	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:100227272C>A	uc004axj.3	+	7	1816	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	TDRD7_uc011lux.2_Silent_p.R457R	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	531	Tudor 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CGCCTGGTTACGGGCACAGGT	0.423													A	100227272	C	A	100227272	2	1	7	1	0	0	0	0	0	0	0	1	15732	527	19	5		5	TDRD7	9	100227272	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	67442858	100227272	40986159	33	450											
TGFBR1	7046	broad.mit.edu	37	9	101900167	101900167	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:101900167A>G	uc004azc.3	+	3	677	c.601A>G	c.(601-603)Att>Gtt	p.I201V	TGFBR1_uc004azd.3_Missense_Mutation_p.I124V|TGFBR1_uc004aze.3_Missense_Mutation_p.I205V|TGFBR1_uc011lvc.2_Missense_Mutation_p.I132V	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	201	GS.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGAACAATTGCGAGAAC	0.358													G	101900167	A	G	101900167	3	3	7	1	0	0	0	0	1	0	0	0	15818	101	4	4	615	4	TGFBR1	9	101900167	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	1672895	101900167	39313264	34	451											
NRP1	8829	broad.mit.edu	37	10	33545336	33545336	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:33545336C>T	uc001iwx.4	-	4	1245	c.722G>A	c.(721-723)gGc>gAc	p.G241D	NRP1_uc001iwv.4_Missense_Mutation_p.G241D|NRP1_uc001iwy.4_Missense_Mutation_p.G241D|NRP1_uc009xlz.3_Missense_Mutation_p.G241D|NRP1_uc001iww.4_Missense_Mutation_p.G60D|NRP1_uc001iwz.2_Missense_Mutation_p.G241D|NRP1_uc001ixa.2_Missense_Mutation_p.G241D|NRP1_uc001ixb.2_Missense_Mutation_p.G241D|NRP1_uc001ixc.1_Missense_Mutation_p.G241D	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	241	CUB 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			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)	GGAGAGAATGCCCGATGAGGA	0.483													T	33545336	C	T	33545336	3	4	7	1	0	0	0	0	1	0	0	0	10660	739	26	3	2112	3	NRP1	10	33545336	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		33545336	101989411	35	452											
BMS1	9790	broad.mit.edu	37	10	43312886	43312888	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:43312886_43312888delGAA	uc001jaj.3	+	14	2882_2884	c.2524_2526delGAA	c.(2524-2526)gaadel	p.E842del		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	842					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGAATATGATGAAGGAGAAAGCA	0.384													-	43312888	GAA	-	43312886	7	5	7	1	0	1	0	1	0	0	0	0	1472	1291	45	0	2578	0	BMS1	10	43312886	In_Frame_Del	DEL	GAA	TCGA-02-2485-01A-01D-1494-08	9767550	43312886	92221861	36	453											
CYP2C8	1558	broad.mit.edu	37	10	96827051	96827051	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:96827051C>T	uc001kkb.3	-	2	490	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	CYP2C8_uc010qoa.2_Missense_Mutation_p.R62Q|CYP2C8_uc010qoc.2_Missense_Mutation_p.R30Q|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.R46Q|CYP2C8_uc021pwl.1_Missense_Mutation_p.R62Q|CYP2C8_uc010qod.1_Missense_Mutation_p.R46Q	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	132					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCCAAAATTCCGCAAGGTTGT	0.483													T	96827051	C	T	96827051	3	4	7	1	0	0	0	0	1	0	0	0	4167	652	23	2	1105	2	CYP2C8	10	96827051	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	53514165	96827051	38707696	37	454											
NEURL	9148	broad.mit.edu	37	10	105331407	105331407	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:105331407G>T	uc001kxh.3	+	2	887	c.477G>T	c.(475-477)gaG>gaT	p.E159D	NEURL_uc021pxn.1_Missense_Mutation_p.E142D	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	159	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGCTGCCTGAGGAGTTTGCCA	0.612													T	105331407	G	T	105331407	3	4	7	1	0	0	0	0	1	0	0	0	10345	991	35	5	487	5	NEURL	10	105331407	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	8504356	105331407	30203340	38	455											
MUC2	4583	broad.mit.edu	37	11	1080301	1080301	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:1080301G>A	uc001lsx.1	+	7	1048	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	341	TIL.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGACGACATCGGGGACAGTGG	0.642													A	1080301	G	A	1080301	3	1	7	1	0	0	0	0	1	0	0	0	9975	1116	39	2	1051	2	MUC2	11	1080301	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		1080301	133926215	39	456											
OR5M11	219487	broad.mit.edu	37	11	56310330	56310330	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:56310330G>C	uc010rjl.2	-	0	404	c.404C>G	c.(403-405)aCg>aGg	p.T135R	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCTCCTGGACGTTTTCACACT	0.498													C	56310330	G	C	56310330	3	2	7	1	0	0	0	0	1	0	0	0	11174	1145	40	5	516	5	OR5M11	11	56310330	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	55230029	56310330	78696186	40	457											
UVRAG	7405	broad.mit.edu	37	11	75590966	75590966	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:75590966G>A	uc001oxc.3	+	3	555	c.314G>A	c.(313-315)cGt>cAt	p.R105H	UVRAG_uc010rrw.2_Missense_Mutation_p.R4H	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	105	C2.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATGCCAGACCGTCTTGATACA	0.423													A	75590966	G	A	75590966	3	1	7	1	0	0	0	0	1	0	0	0	17105	1145	40	1	328	1	UVRAG	11	75590966	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	19280636	75590966	59415550	41	458											
NOP2	4839	broad.mit.edu	37	12	6675301	6675301	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr12:6675301T>G	uc021qtw.1	-	4	608	c.428A>C	c.(427-429)gAc>gCc	p.D143A	NOP2_uc009zeq.2_5'Flank|NOP2_uc021qtx.1_Missense_Mutation_p.D143A|NOP2_uc021qty.1_Missense_Mutation_p.D147A|NOP2_uc021qtz.1_Missense_Mutation_p.D147A|NOP2_uc021qua.1_Missense_Mutation_p.D147A	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	147					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGAGTTGGAGTCAGCTCCATA	0.488													G	6675301	T	G	6675301	3	3	7	1	0	0	0	0	1	0	0	0	10538	1667	58	5	2046	5	NOP2	12	6675301	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08		6675301	127176594	42	459											
ATP8A2	51761	broad.mit.edu	37	13	26349058	26349058	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr13:26349058G>T	uc001uqk.3	+	26	2782	c.2640G>T	c.(2638-2640)ttG>ttT	p.L880F	ATP8A2_uc010tdi.2_Missense_Mutation_p.L840F|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.L430F	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	840					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			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)		AGTGCATCTTGTACTGCTTCT	0.388													T	26349058	G	T	26349058	3	4	7	1	0	0	0	0	1	0	0	0	1193	1368	48	5	2746	5	ATP8A2	13	26349058	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		26349058	88820820	43	460											
SIX4	51804	broad.mit.edu	37	14	61189964	61189964	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr14:61189964G>A	uc001xfc.3	-	0	889	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	SIX4_uc010app.1_Missense_Mutation_p.R269C	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	277						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTCCTGTCGCGCTGCCGGCGG	0.637													A	61189964	G	A	61189964	3	1	7	1	0	0	0	0	1	0	0	0	14349	1087	38	1	1528	1	SIX4	14	61189964	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		61189964	46159576	44	461											
ACOT2	641371	broad.mit.edu	37	14	74008216	74008216	+	Silent	SNP	C	C	G	rs142030871	by1000genomes	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr14:74008216C>G	uc001xol.1	+	1	675	c.477C>G	c.(475-477)ggC>ggG	p.G159G	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Silent_p.G159G	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.	221					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	p.G159G(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CCTTTCCTGGCATTGTGGACA	0.463													G	74008216	C	G	74008216	2	3	7	1	0	0	0	0	0	0	0	1	152	697	25	5		5	ACOT2	14	74008216	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	12818252	74008216	33341324	45	462											
AGBL1	123624	broad.mit.edu	37	15	86838560	86838560	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr15:86838560G>A	uc002blz.1	+	15	2237	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	AGBL1_uc002bma.1_Silent_p.T450T|AGBL1_uc002bmb.1_Silent_p.T413T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	719					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.T719M(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTGCCAGACGCTGGGAGGGA	0.507													A	86838560	G	A	86838560	2	1	7	1	0	0	0	0	0	0	0	1	375	1074	38	1		1	AGBL1	15	86838560	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		86838560	15692832	46	463											
ACSM2B	348158	broad.mit.edu	37	16	20548636	20548636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:20548636G>A	uc002dhj.4	-	14	1888	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	ACSM2B_uc002dhk.4_Nonsense_Mutation_p.R560*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	560					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTTTGGTTCGTTGAATTTTC	0.473													A	20548636	G	A	20548636	4	1	7	1	0	0	0	0	0	1	0	0	184	1153	40	1	59	1	ACSM2B	16	20548636	Nonsense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		20548636	69806117	47	464											
CACNG3	10368	broad.mit.edu	37	16	24366257	24366257	+	Silent	SNP	C	C	T	rs147734423		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:24366257C>T	uc002dmf.3	+	2	1601	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	133					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGACACAACGTCATTCTCA	0.587													T	24366257	C	T	24366257	2	4	7	1	0	0	0	0	0	0	0	1	2558	535	19	1		1	CACNG3	16	24366257	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	3817621	24366257	65988496	48	465											
ITGAM	3684	broad.mit.edu	37	16	31286996	31286996	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:31286996C>T	uc002ebr.3	+	8	1083	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	ITGAM_uc002ebq.3_Missense_Mutation_p.R329W|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	329					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAACCAGCTTCGGGAGAAGAT	0.542													T	31286996	C	T	31286996	3	4	7	1	0	0	0	0	1	0	0	0	7887	875	31	2	1019	2	ITGAM	16	31286996	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	6920739	31286996	59067757	49	466											
HYDIN	54768	broad.mit.edu	37	16	71004595	71004595	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:71004595C>T	uc002ezr.3	-	35	5595	c.5444G>A	c.(5443-5445)cGt>cAt	p.R1815H		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1816										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTTGCCCACGTGCCAGGAG	0.507													T	71004595	C	T	71004595	3	4	7	1	0	0	0	0	1	0	0	0	7467	536	19	1	10122	1	HYDIN	16	71004595	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	39717599	71004595	19350158	50	467											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	7	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		7577538	73617672	51	468											
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:7578550G>T	uc002gim.2	-	4	574	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.3_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.S88Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(44)|p.S127Y(16)|p.Y126_K132delYSPALNK(12)|p.S127C(10)|p.Y126*(10)|p.0?(8)|p.S127T(6)|p.Y126N(6)|p.Y126_N131delYSPALN(6)|p.Y126D(5)|p.S127P(4)|p.Y126C(4)|p.A129fs*20(3)|p.S127_Q136del10(2)|p.S127fs*42(2)|p.Y126fs*11(2)|p.P128fs*42(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126fs*18(2)|p.S127fs*36(2)|p.Y126Y(1)|p.S127S(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*22(1)|p.Y126_S127insQPHH(1)|p.S34F(1)|p.?(1)|p.A36fs*20(1)|p.P13fs*18(1)|p.P128fs*18(1)|p.Y126fs*24(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)		GAGGGCAGGGGAGTACTGTAG	0.552		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)			T	7578550	G	T	7578550	3	4	7	1	0	0	0	0	1	0	0	0	16378	1174	41	5	918	5	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	1012	7578550	73616660	52	469											
WNT3	7473	broad.mit.edu	37	17	44851175	44851175	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:44851175T>C	uc002ikv.2	-	1	300	c.181A>G	c.(181-183)Aat>Gat	p.N61D		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	61					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCGATGTAATTGCGGCAGAAG	0.657													C	44851175	T	C	44851175	3	2	7	1	0	0	0	0	1	0	0	0	17385	1812	63	4	898	4	WNT3	17	44851175	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08	37272625	44851175	36344035	53	470											
C17orf47	284083	broad.mit.edu	37	17	56621053	56621053	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:56621053C>A	uc002iwq.2	-	0	681	c.495G>T	c.(493-495)aaG>aaT	p.K165N	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	165										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTAAGTTATTCTTCTGGTCTT	0.478													A	56621053	C	A	56621053	3	1	7	1	0	0	0	0	1	0	0	0	1858	912	32	5	1225	5	C17orf47	17	56621053	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	11769878	56621053	24574157	54	471											
CD300A	11314	broad.mit.edu	37	17	72469900	72469900	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:72469900C>T	uc002jkv.3	+	1	587	c.266C>T	c.(265-267)aCc>aTc	p.T89I	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	89	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTCACAGTGACCCTGGAGAAT	0.537													T	72469900	C	T	72469900	3	4	7	1	0	0	0	0	1	0	0	0	2996	507	18	3	272	3	CD300A	17	72469900	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	15848847	72469900	8725310	55	472											
THEG	51298	broad.mit.edu	37	19	375850	375850	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:375850G>A	uc002lol.3	-	0	164	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	THEG_uc002lom.3_Missense_Mutation_p.R41W	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	41					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TCTGTGACCCGCCGGCTCTCG	0.672													A	375850	G	A	375850	3	1	7	1	0	0	0	0	1	0	0	0	15854	1086	38	1	1050	1	THEG	19	375850	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		375850	58753133	56	473											
EEF2	1938	broad.mit.edu	37	19	3980665	3980665	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:3980665A>C	uc002lze.3	-	8	1276	c.1193T>G	c.(1192-1194)aTt>aGt	p.I398S		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	398						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTTGGAAATATACATCAT	0.527													C	3980665	A	C	3980665	3	2	7	1	0	0	0	0	1	0	0	0	4929	101	4	5	1411	5	EEF2	19	3980665	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	3604815	3980665	55148318	57	474											
MUC16	94025	broad.mit.edu	37	19	9046871	9046871	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:9046871G>A	uc002mkp.3	-	4	34964	c.34760C>T	c.(34759-34761)aCg>aTg	p.T11587M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11589	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						CCCAGAAACCGTTGTGCTGGT	0.522													A	9046871	G	A	9046871	3	1	7	1	0	0	0	0	1	0	0	0	9973	1145	40	1	9083	1	MUC16	19	9046871	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	5066206	9046871	50082112	58	475											
OR7E24	26648	broad.mit.edu	37	19	9361873	9361873	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:9361873A>G	uc002mlb.1	+	0	154	c.154A>G	c.(154-156)Atg>Gtg	p.M52V		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51*(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GTTCCTGTCCATGTACCTGGT	0.577													G	9361873	A	G	9361873	3	3	7	1	0	0	0	0	1	0	0	0	11221	217	8	4	156	4	OR7E24	19	9361873	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	315002	9361873	49767110	59	476											
ATP13A1	57130	broad.mit.edu	37	19	19756294	19756294	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:19756294C>T	uc002nnh.4	-	25	3580	c.3552G>A	c.(3550-3552)gcG>gcA	p.A1184A	GMIP_uc002nnd.3_5'Flank|GMIP_uc010xrb.2_5'Flank|GMIP_uc010xrc.2_5'Flank|ATP13A1_uc002nne.3_Silent_p.A324A|ATP13A1_uc002nnf.4_Silent_p.A552A|ATP13A1_uc002nng.3_Silent_p.A1066A	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	1184					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGGCCAGGAGCGCCAGGCAGA	0.647													T	19756294	C	T	19756294	2	4	7	1	0	0	0	0	0	0	0	1	1123	755	27	1		1	ATP13A1	19	19756294	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	10394421	19756294	39372689	60	477											
ZNF681	148213	broad.mit.edu	37	19	23927494	23927494	+	Silent	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:23927494T>C	uc002nrk.4	-	3	1000	c.858A>G	c.(856-858)gaA>gaG	p.E286E	ZNF681_uc002nrl.4_Silent_p.E217E|ZNF681_uc002nrj.4_Silent_p.E217E	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTTTGTCACATTCTTCACGTT	0.363													C	23927494	T	C	23927494	2	2	7	1	0	0	0	0	0	0	0	1	18085	1490	52	4		4	ZNF681	19	23927494	Silent	SNP	T	TCGA-02-2485-01A-01D-1494-08	4171200	23927494	35201489	61	478											
ZNF571	51276	broad.mit.edu	37	19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:38056190_38056193delGTAA	uc002ogs.1	-						LOC100507433_uc002ogm.3_Intron|LOC100507433_uc002ogn.3_Intron|LOC100507433_uc002ogo.3_Intron|LOC100507433_uc002ogp.3_Intron|LOC100507433_uc002ogq.3_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc002ogt.3_Frame_Shift_Del_p.T379fs|ZNF571_uc010efp.3_Frame_Shift_Del_p.T379fs			Q7Z3V5	ZN571_HUMAN	Homo sapiens zinc finger protein 571, mRNA (cDNA clone MGC:138690 IMAGE:40036719), complete cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377													-	38056193	GTAA	-	38056190	7	5	7	1	0	1	0	1	0	0	0	0	18000	1256	44	0	693	0	ZNF571	19	38056190	Frame_Shift_Del	DEL	GTAA	TCGA-02-2485-01A-01D-1494-08	14128696	38056190	21072793	62	479											
EXOSC5	56915	broad.mit.edu	37	19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:41903139G>A	uc002oqo.3	-	0	118	c.95C>T	c.(94-96)gCc>gTc	p.A32V	BCKDHA_uc002oqm.4_Intron|BCKDHA_uc002oqp.2_5'Flank|BCKDHA_uc002oqr.3_5'Flank|BCKDHA_uc002oqq.3_5'Flank|BCKDHA_uc010xvz.2_5'Flank	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	Homo sapiens exosome component 5 (EXOSC5), mRNA.	32					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGTTCGCAGGCAAAGTGCCG	0.582													A	41903139	G	A	41903139	3	1	7	1	0	0	0	0	1	0	0	0	5318	1203	42	3	636	3	EXOSC5	19	41903139	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	3846949	41903139	17225844	63	480											
IRGC	56269	broad.mit.edu	37	19	44222975	44222975	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:44222975G>A	uc002oxh.3	+	1	412	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	IRGC_uc021uvh.1_Missense_Mutation_p.V89I	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	89						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.G88G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCTCACGGGCGTCATGGAGAC	0.701													A	44222975	G	A	44222975	3	1	7	1	0	0	0	0	1	0	0	0	7838	1145	40	1	267	1	IRGC	19	44222975	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	2319836	44222975	14906008	64	481											
EXOC3L2	90332	broad.mit.edu	37	19	45728158	45728158	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:45728158G>A	uc002pay.1	-	5	459	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	140										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CGGGCCAGGCGCTCGGCCAGA	0.637													A	45728158	G	A	45728158	3	1	7	1	0	0	0	0	1	0	0	0	5305	1087	38	1	831	1	EXOC3L2	19	45728158	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	1505183	45728158	13400825	65	482											
LILRB2	10288	broad.mit.edu	37	19	54783691	54783691	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:54783691C>T	uc002qfb.3	-	3	576	c.310G>A	c.(310-312)Gct>Act	p.A104T	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.A104T|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.A104T|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	104	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.A104S(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACCACCGAGCGCGGCTGTAA	0.592													T	54783691	C	T	54783691	3	4	7	1	0	0	0	0	1	0	0	0	8791	768	27	1	1530	1	LILRB2	19	54783691	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	9055533	54783691	4345292	66	483											
KIR2DL1	3804	broad.mit.edu	37	19	55255258	55255260	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:55255258_55255260delCTT	uc002qgx.3	+	3	423_425	c.386_388delCTT	c.(385-390)ccttct>cct	p.S130del	KIR2DL1_uc010erw.1_In_Frame_Del_p.S130del|KIR2DL1_uc002qgz.1_In_Frame_Del_p.S40del|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	130					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TATGAGAAACCTTCTCTCTCAGC	0.562													-	55255260	CTT	-	55255258	7	5	7	1	0	1	0	1	0	0	0	0	8316	681	24	0		0	KIR2DL1	19	55255258	In_Frame_Del	DEL	CTT	TCGA-02-2485-01A-01D-1494-08	471567	55255258	3873725	67	484											
SLCO4A1	28231	broad.mit.edu	37	20	61299253	61299253	+	Silent	SNP	C	C	T	rs138089582	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr20:61299253C>T	uc002ydb.1	+	7	1834	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	LOC100127888_uc002ydd.3_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.T3M	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	543	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGAATGTGGACGGCCAGAAGG	0.647													T	61299253	C	T	61299253	2	4	7	1	0	0	0	0	0	0	0	1	14729	535	19	1		1	SLCO4A1	20	61299253	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08		61299253	1726267	68	485											
KIAA1644	85352	broad.mit.edu	37	22	44692617	44692617	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr22:44692617G>A	uc003bet.2	-	2	349	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	72						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTCCGTCTCGTTGCAGCAGT	0.582													A	44692617	G	A	44692617	2	1	7	1	0	0	0	0	0	0	0	1	8250	1136	40	1		1	KIAA1644	22	44692617	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		44692617	6611949	69	486											
PRPS2	5634	broad.mit.edu	37	X	12828240	12828240	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:12828240T>A	uc004cva.3	+	3	657	c.514T>A	c.(514-516)Tca>Aca	p.S172T	PRPS2_uc004cvb.3_Missense_Mutation_p.S169T|PRPS2_uc010nec.3_Missense_Mutation_p.S105T	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	169					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TATCATTGTTTCACCTGACGC	0.463													A	12828240	T	A	12828240	3	1	7	1	0	0	0	0	1	0	0	0	12580	1783	62	5	528	5	PRPS2	23	12828240	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08		12828240	142442320	70	487											
MSN	4478	broad.mit.edu	37	X	64949532	64949532	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:64949532A>G	uc004dwf.3	+	3	623	c.425A>G	c.(424-426)cAt>cGt	p.H142R		NM_002444	NP_002435	P26038	MOES_HUMAN	Homo sapiens moesin (MSN), mRNA.	142	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AAGGAAGTGCATAAGTCTGGC	0.562			T	ALK	ALCL								G	64949532	A	G	64949532	3	3	7	1	0	0	0	0	1	0	0	0	9885	217	8	4	439	4	MSN	23	64949532	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	52121292	64949532	90321028	71	488											
HEPH	9843	broad.mit.edu	37	X	65486458	65486458	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:65486458C>T	uc011moz.2	+	20	3720	c.3583C>T	c.(3583-3585)Cgc>Tgc	p.R1195C	HEPH_uc004dwn.3_Missense_Mutation_p.R1143C|HEPH_uc004dwo.3_Missense_Mutation_p.R874C|HEPH_uc010nkr.3_Missense_Mutation_p.R952C|HEPH_uc011mpa.2_Missense_Mutation_p.R1144C	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1141					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAAGCTACGACGCAATAGGAG	0.498													T	65486458	C	T	65486458	3	4	7	1	0	0	0	0	1	0	0	0	7054	536	19	1	3665	1	HEPH	23	65486458	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	536926	65486458	89784102	72	489											
DCAF12L2	340578	broad.mit.edu	37	X	125299891	125299891	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:125299891G>T	uc004euk.2	-	0	190	c.17C>A	c.(16-18)aCa>aAa	p.T6K		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	6										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGCTACCTGTTTGCTGCTG	0.776													T	125299891	G	T	125299891	3	4	7	1	0	0	0	0	1	0	0	0	4265	1377	48	5	1378	5	DCAF12L2	23	125299891	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	59813433	125299891	29970669	73	490											
LOC649330	649330	broad.mit.edu	37	1	12907709	12907709	+	Missense_Mutation	SNP	C	C	T	rs4026148		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:12907709C>T	uc010obf.2	-	1	660	c.434G>A	c.(433-435)cGt>cAt	p.R145H	LOC649330_uc009vno.2_Missense_Mutation_p.R145H	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	145							nucleic acid binding|nucleotide binding	p.R145H(1)									TAGACGTTGACGTTTCGAGGG	0.483													T	12907709	C	T	12907709	3	4	8	1	0	0	0	0	1	0	0	0	8885	536	19	1	451	1	LOC649330	1	12907709	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		12907709	236342912	1	491											
LOC649330	649330	broad.mit.edu	37	1	12907886	12907886	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:12907886G>A	uc010obf.2	-	1	483	c.257C>T	c.(256-258)gCa>gTa	p.A86V	LOC649330_uc009vno.2_Missense_Mutation_p.A86V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	86							nucleic acid binding|nucleotide binding										TTTTGGCTCTGCAGCCAGGTT	0.488													A	12907886	G	A	12907886	3	1	8	1	0	0	0	0	1	0	0	0	8885	1319	46	3	628	3	LOC649330	1	12907886	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	177	12907886	236342735	2	492											
HSPG2	3339	broad.mit.edu	37	1	22216489	22216489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:22216489G>A	uc009vqd.3	-	5	599	c.559C>T	c.(559-561)Cga>Tga	p.R187*	HSPG2_uc001bfj.3_Nonsense_Mutation_p.R187*|HSPG2_uc009vqe.1_Silent_p.S85S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	187	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCAGGCGTCGGAACTGGAAT	0.612													A	22216489	G	A	22216489	4	1	8	1	0	0	0	0	0	1	0	0	7430	1124	39	2	12984	2	HSPG2	1	22216489	Nonsense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	9308603	22216489	227034132	3	493											
SLC2A1	6513	broad.mit.edu	37	1	43396355	43396355	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:43396355C>T	uc001cik.2	-	3	983	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	153			R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity).|R -> H (in GLUT1DS2).		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CAGGGCCCCACGAAGGGCTGT	0.647													T	43396355	C	T	43396355	3	4	8	1	0	0	0	0	1	0	0	0	14538	536	19	1	1048	1	SLC2A1	1	43396355	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	21179866	43396355	205854266	4	494											
CDKN2C	1031	broad.mit.edu	37	1	51439609	51439610	+	Frame_Shift_Ins	INS	-	-	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:51439609_51439610insA	uc001csf.3	+	2	2149_2150	c.174_175insA	c.(172-177)cttagafs	p.L58fs	CDKN2C_uc001csg.3_Frame_Shift_Ins_p.L58fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	58					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GACTGCTACTTAGAGGTGCTAA	0.441			D		"glioma, MM"								A	51439610	-	A	51439609	7	5	8	1	0	1	1	0	0	0	0	0	3165	1741	61	0	180	0	CDKN2C	1	51439609	Frame_Shift_Ins	INS	-	TCGA-02-2486-01A-01D-1494-08	8043254	51439609	197811012	5	495											
GBA	2630	broad.mit.edu	37	1	155184421	155184421	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:155184421G>A	uc001fjd.3	-	9	1173	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	GBA_uc001fjf.4_Silent_p.N304N|GBA_uc001fje.4_Silent_p.N265N			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	481			Y -> C (in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CGTCCGGGTCGTTCTTCTGAC	0.582									Gaucher disease type I				A	155184421	G	A	155184421	2	1	8	1	0	0	0	0	0	0	0	1	6266	1160	40	1		1	GBA	1	155184421	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	103744812	155184421	94066200	6	496											
GPR52	9293	broad.mit.edu	37	1	174417940	174417940	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:174417940C>T	uc010pmu.1	-	0		c.395G>A			RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Missense_Mutation_p.R231C			Q9Y2T5	GPR52_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CAAAATTTGCCGTCAGCACAC	0.463													T	174417940	C	T	174417940	3	4	8	1	0	0	0	0	1	0	0	0	6698	652	23	2	693	2	GPR52	1	174417940	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	19233519	174417940	74832681	7	497											
KIF21B	23046	broad.mit.edu	37	1	200974537	200974537	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:200974537G>A	uc001gvs.2	-	4	948	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	KIF21B_uc009wzl.2_Missense_Mutation_p.R211C|KIF21B_uc001gvr.2_Missense_Mutation_p.R211C|KIF21B_uc010ppn.2_Missense_Mutation_p.R211C|KIF21B_uc001gvt.1_5'UTR	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	211	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTGTGGTGCGGGACAGGGCC	0.627													A	200974537	G	A	200974537	3	1	8	1	0	0	0	0	1	0	0	0	8289	1116	39	2	4363	2	KIF21B	1	200974537	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	26556597	200974537	48276084	8	498											
OR2T4	127074	broad.mit.edu	37	1	248525343	248525343	+	Missense_Mutation	SNP	G	G	A	rs141022739		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:248525343G>A	uc001ieh.1	+	0	461	c.461G>A	c.(460-462)cGc>cAc	p.R154H		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GCCTATGACCGCTACGTGGCC	0.522													A	248525343	G	A	248525343	3	1	8	1	0	0	0	0	1	0	0	0	11027	1087	38	1	463	1	OR2T4	1	248525343	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	47550806	248525343	725278	9	499											
CAD	790	broad.mit.edu	37	2	27446562	27446562	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:27446562A>G	uc002rji.3	+	6	1103	c.941A>G	c.(940-942)aAc>aGc	p.N314S	CAD_uc010eyw.3_Missense_Mutation_p.N314S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	314	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTCTTCACCAACGCCAATGAT	0.537													G	27446562	A	G	27446562	3	3	8	1	0	0	0	0	1	0	0	0	2565	43	2	4	967	4	CAD	2	27446562	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08		27446562	215752811	10	500											
RHOQ	23433	broad.mit.edu	37	2	46803312	46803312	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:46803312T>A	uc002rva.3	+	2	607	c.288T>A	c.(286-288)ttT>ttA	p.F96L	BC048424_uc002rvb.3_Intron	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	96					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAGCCTCATTTCAAAATGTGA	0.418													A	46803312	T	A	46803312	3	1	8	1	0	0	0	0	1	0	0	0	13342	1780	62	5	298	5	RHOQ	2	46803312	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	19356750	46803312	196396061	11	501											
LRP2	4036	broad.mit.edu	37	2	170060768	170060768	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:170060768G>A	uc002ues.3	-	41	7942	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2577					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGAGTGCTGCGTTCAATCCTC	0.433													A	170060768	G	A	170060768	3	1	8	1	0	0	0	0	1	0	0	0	8956	1145	40	1	6390	1	LRP2	2	170060768	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	123257456	170060768	73138605	12	502											
SCN10A	6336	broad.mit.edu	37	3	38739171	38739171	+	Missense_Mutation	SNP	C	C	T	rs148537653		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:38739171C>T	uc003ciq.3	-	26	5540	c.5540G>A	c.(5539-5541)cGa>cAa	p.R1847Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1847					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGCTTCCATCGGAGAGTGGT	0.473													T	38739171	C	T	38739171	3	4	8	1	0	0	0	0	1	0	0	0	13912	884	31	2	334	2	SCN10A	3	38739171	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		38739171	159283259	13	503											
CCBP2	1238	broad.mit.edu	37	3	42906816	42906816	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:42906816G>A	uc003cme.3	+	2	1000	c.822G>A	c.(820-822)acG>acA	p.T274T	CCBP2_uc003cmf.3_Silent_p.T274T|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.T274T	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	274					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	p.T274M(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TTCTGCATACGCTGTTGGACC	0.537													A	42906816	G	A	42906816	2	1	8	1	0	0	0	0	0	0	0	1	2734	1074	38	1		1	CCBP2	3	42906816	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	4167645	42906816	155115614	14	504											
PLXNB1	5364	broad.mit.edu	37	3	48463528	48463528	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:48463528G>A	uc003csw.2	-	5	1776	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	PLXNB1_uc003csu.2_Silent_p.C502C|PLXNB1_uc003csx.2_Silent_p.C502C|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	502					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			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)		CAAGGAGCACGCACCACCCAC	0.557													A	48463528	G	A	48463528	2	1	8	1	0	0	0	0	0	0	0	1	12123	1079	38	1		1	PLXNB1	3	48463528	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	5556712	48463528	149558902	15	505											
SOX14	8403	broad.mit.edu	37	3	137484152	137484152	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:137484152G>A	uc003erm.2	+	0	1019	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	176					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCAGAACGGCGCCTTCGGCAG	0.667													A	137484152	G	A	137484152	3	1	8	1	0	0	0	0	1	0	0	0	14945	1087	38	1	528	1	SOX14	3	137484152	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	89020624	137484152	60538278	16	506											
ATR	545	broad.mit.edu	37	3	142183989	142183989	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:142183989C>A	uc003eux.4	-	40	7113	c.6991G>T	c.(6991-6993)Gac>Tac	p.D2331Y	ATR_uc003euy.1_Missense_Mutation_p.D217Y	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2331	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTCAGGTCATCTTTTGGC	0.299								Other conserved DNA damage response genes					A	142183989	C	A	142183989	3	1	8	1	0	0	0	0	1	0	0	0	1204	826	29	5	971	5	ATR	3	142183989	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	4699837	142183989	55838441	17	507											
NSUN7	79730	broad.mit.edu	37	4	40800851	40800851	+	Nonsense_Mutation	SNP	G	G	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:40800851G>T	uc003gvj.4	+	9	1825	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	NSUN7_uc003gvi.4_Nonsense_Mutation_p.E444*	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGTTTTTCCAGAAGAAAATGA	0.343													T	40800851	G	T	40800851	4	4	8	1	0	0	0	0	0	1	0	0	10683	943	33	5	1364	5	NSUN7	4	40800851	Nonsense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		40800851	150353425	18	508											
NPY5R	4889	broad.mit.edu	37	4	164271493	164271493	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:164271493G>A	uc003iqn.3	+	3	250	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NPY5R_uc021xtw.1_Missense_Mutation_p.R23Q	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	23					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.R23L(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GCTGCCACTCGGAATTCTGAT	0.378													A	164271493	G	A	164271493	3	1	8	1	0	0	0	0	1	0	0	0	10610	1116	39	2	70	2	NPY5R	4	164271493	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	123470642	164271493	26882783	19	509											
ADAM29	11086	broad.mit.edu	37	4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:175897289G>A	uc003iuc.3	+	4	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_uc003iud.3_Missense_Mutation_p.V205I|ADAM29_uc010irr.3_Missense_Mutation_p.V205I|ADAM29_uc011cki.2_Missense_Mutation_p.V205I|ADAM29_uc021xuo.1_Missense_Mutation_p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	205	Peptidase M12B.		V -> I (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V205I(4)|p.V204V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348													A	175897289	G	A	175897289	3	1	8	1	0	0	0	0	1	0	0	0	247	1145	40	1	615	1	ADAM29	4	175897289	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	11625796	175897289	15256987	20	510											
IL31RA	133396	broad.mit.edu	37	5	55206410	55206410	+	Nonsense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:55206410C>T	uc003jql.3	+	11	1744	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	IL31RA_uc003jqm.3_Nonsense_Mutation_p.R499*|IL31RA_uc003jqn.3_Nonsense_Mutation_p.R518*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R481*|IL31RA_uc021xyq.1_Nonsense_Mutation_p.R499*|IL31RA_uc003jqo.3_Nonsense_Mutation_p.R376*	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	486					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTCCCTGAAACGAAAGACCTC	0.458													T	55206410	C	T	55206410	4	4	8	1	0	0	0	0	0	1	0	0	7691	528	19	1	1598	1	IL31RA	5	55206410	Nonsense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		55206410	125708850	21	511											
GABRB2	2561	broad.mit.edu	37	5	160721153	160721153	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:160721153G>A	uc003lys.1	-	10	1692	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	GABRB2_uc011deh.1_Missense_Mutation_p.R293C|GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	492					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGAATATGCGGGACCACCGA	0.468													A	160721153	G	A	160721153	3	1	8	1	0	0	0	0	1	0	0	0	6167	1116	39	2	68	2	GABRB2	5	160721153	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	105514743	160721153	20194107	22	512											
GABRA6	2559	broad.mit.edu	37	5	161113291	161113291	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:161113291G>T	uc003lyu.2	+	1	432	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAGAAAACGTCAGTCGGAT	0.488										TCGA Ovarian(5;0.080)			T	161113291	G	T	161113291	3	4	8	1	0	0	0	0	1	0	0	0	6165	1145	40	5	100	5	GABRA6	5	161113291	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	392138	161113291	19801969	23	513											
GABRP	2568	broad.mit.edu	37	5	170222299	170222299	+	Missense_Mutation	SNP	C	C	T	rs145233692		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:170222299C>T	uc003mau.3	+	4	526	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	GABRP_uc011dev.2_Missense_Mutation_p.R110C	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	110						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R110S(2)|p.R110H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGGATGCCCGCCTCGTGGA	0.562													T	170222299	C	T	170222299	3	4	8	1	0	0	0	0	1	0	0	0	6174	652	23	2	342	2	GABRP	5	170222299	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	9109008	170222299	10692961	24	514											
HRH2	3274	broad.mit.edu	37	5	175110333	175110333	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:175110333G>A	uc003mdc.4	+	1	741	c.97G>A	c.(97-99)Gtt>Att	p.V33I	HRH2_uc003mdd.2_Missense_Mutation_p.V33I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	33					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCTCATCACCGTTGCTGGCAA	0.572													A	175110333	G	A	175110333	3	1	8	1	0	0	0	0	1	0	0	0	7356	1145	40	1	99	1	HRH2	5	175110333	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	4888034	175110333	5804927	25	515											
C6orf15	29113	broad.mit.edu	37	6	31079167	31079167	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:31079167C>A	uc003nsk.1	-	1	969	c.969G>T	c.(967-969)caG>caT	p.Q323H		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	323										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCTAGCCCCACTGCAACCTAG	0.562													A	31079167	C	A	31079167	3	1	8	1	0	0	0	0	1	0	0	0	2336	564	20	5	12	5	C6orf15	6	31079167	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		31079167	140035900	26	516											
KCNQ5	56479	broad.mit.edu	37	6	73787150	73787150	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:73787150G>A	uc011dyh.2	+	3	1069	c.722G>A	c.(721-723)cGc>cAc	p.R241H	KCNQ5_uc003pgj.4_Missense_Mutation_p.R241H|KCNQ5_uc011dyi.2_Missense_Mutation_p.R241H|KCNQ5_uc010kat.3_Missense_Mutation_p.R241H|KCNQ5_uc003pgk.3_Missense_Mutation_p.R241H|KCNQ5_uc011dyj.2_Missense_Mutation_p.R241H|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	241					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R241H(2)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGATCCTCCGCATGGTGCGC	0.443													A	73787150	G	A	73787150	3	1	8	1	0	0	0	0	1	0	0	0	8086	1087	38	1	736	1	KCNQ5	6	73787150	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	42707983	73787150	97327917	27	517											
PRDM13	59336	broad.mit.edu	37	6	100062050	100062050	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:100062050G>A	uc003pqg.1	+	3	1800	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CCGAGCTGGGGTCGCTGGCCA	0.662													A	100062050	G	A	100062050	2	1	8	1	0	0	0	0	0	0	0	1	12454	1248	44	3		3	PRDM13	6	100062050	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	26274900	100062050	71053017	28	518											
BEND3	57673	broad.mit.edu	37	6	107391831	107391831	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:107391831G>A	uc003prs.2	-	4	1214	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	188										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGTTGGGGTCGTTGTCAGTGC	0.577													A	107391831	G	A	107391831	2	1	8	1	0	0	0	0	0	0	0	1	1399	1136	40	1		1	BEND3	6	107391831	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	7329781	107391831	63723236	29	519											
SGK1	6446	broad.mit.edu	37	6	134492161	134492161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:134492161delG	uc003qen.4	-	10	1127	c.1038_splice	c.e10+1	p.F346_splice	SGK1_uc003qeo.4_Splice_Site_p.F441_splice|SGK1_uc011ect.2_Splice_Site_p.F336_splice|SGK1_uc011ecu.2_Splice_Site_p.F302_splice|SGK1_uc011ecv.2_Splice_Site_p.F360_splice|SGK1_uc011ecw.2_Splice_Site_p.F374_splice	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	346	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.F346F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CATCACTCACGAAGTCATCCT	0.527													-	134492161	G	-	134492161	7	5	8	1	0	1	0	1	0	0	0	0	14207	1072	37	0	269	0	SGK1	6	134492161	Frame_Shift_Del	DEL	G	TCGA-02-2486-01A-01D-1494-08	27100330	134492161	36622906	30	520											
KIAA1244	57221	broad.mit.edu	37	6	138612912	138612912	+	Silent	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:138612912C>T	uc003qhu.3	+	18	3261	c.3090C>T	c.(3088-3090)agC>agT	p.S1030S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1030					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCACTTCAGCGATGGTGCCT	0.647													T	138612912	C	T	138612912	2	4	8	1	0	0	0	0	0	0	0	1	8217	767	27	1		1	KIAA1244	6	138612912	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	4120751	138612912	32502155	31	521											
DNAH11	8701	broad.mit.edu	37	7	21583201	21583201	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:21583201C>T	uc003svc.3	+	0	369	c.338C>T	c.(337-339)gCg>gTg	p.A113V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	113	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGCGCCTTGCGGCTTCCCAG	0.617									Kartagener syndrome				T	21583201	C	T	21583201	3	4	8	1	0	0	0	0	1	0	0	0	4599	768	27	1	340	1	DNAH11	7	21583201	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		21583201	137555462	32	522											
STK31	56164	broad.mit.edu	37	7	23802525	23802525	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:23802525C>T	uc003sws.4	+	10	1466	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	STK31_uc003swt.4_Missense_Mutation_p.R444C|STK31_uc011jze.2_Missense_Mutation_p.R467C|STK31_uc010kuq.3_Missense_Mutation_p.R444C	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	467							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.R467C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTAATAAACGCTTAAAAAC	0.289													T	23802525	C	T	23802525	3	4	8	1	0	0	0	0	1	0	0	0	15295	536	19	1	1441	1	STK31	7	23802525	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	2219324	23802525	135336138	33	523											
HECW1	23072	broad.mit.edu	37	7	43360248	43360248	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:43360248G>A	uc003tid.1	+	4	972	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	HECW1_uc011kbi.1_Missense_Mutation_p.E123K|HECW1_uc003tie.1_Missense_Mutation_p.E155K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGTCTTGTCCGAAAACTTTCT	0.428													A	43360248	G	A	43360248	3	1	8	1	0	0	0	0	1	0	0	0	7042	1059	37	2	377	2	HECW1	7	43360248	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	19557723	43360248	115778415	34	524											
SRCRB4D	136853	broad.mit.edu	37	7	76019569	76019569	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:76019569C>T	uc003ufb.3	-	10	1883	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	SRCRB4D_uc003ufa.3_Missense_Mutation_p.A14T	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	512	SRCR 4.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCCCAGCTGGCGGCACAGGAC	0.667													T	76019569	C	T	76019569	3	4	8	1	0	0	0	0	1	0	0	0	15136	768	27	1	196	1	SRCRB4D	7	76019569	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	32659321	76019569	83119094	35	525											
KIAA1324L	222223	broad.mit.edu	37	7	86521158	86521158	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:86521158T>A	uc011kha.2	-	20	3097	c.2912A>T	c.(2911-2913)gAg>gTg	p.E971V	KIAA1324L_uc003uie.3_Missense_Mutation_p.E804V|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E857V|KIAA1324L_uc003uif.2_Missense_Mutation_p.E723V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	971						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAGTTCACACTCTTTTGAGTT	0.323													A	86521158	T	A	86521158	3	1	8	1	0	0	0	0	1	0	0	0	8224	1551	54	5	185	5	KIAA1324L	7	86521158	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	10501589	86521158	72617505	36	526											
MCM7	4176	broad.mit.edu	37	7	99693629	99693629	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:99693629G>A	uc003usw.1	-	10	1873	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	MCM7_uc003usv.1_Missense_Mutation_p.R279C|MCM7_uc003usx.1_Missense_Mutation_p.R279C|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	455	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ATGGCTGTGCGGTCGGCCTCA	0.612													A	99693629	G	A	99693629	3	1	8	1	0	0	0	0	1	0	0	0	9392	1116	39	2	816	2	MCM7	7	99693629	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	13172471	99693629	59445034	37	527											
CPA2	1358	broad.mit.edu	37	7	129909521	129909521	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:129909521A>G	uc003vpq.3	+	2	185	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E	CPA2_uc011kpc.1_Missense_Mutation_p.K56E	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	56					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGATTTTTGGAAATCACCCAC	0.493													G	129909521	A	G	129909521	3	3	8	1	0	0	0	0	1	0	0	0	3790	247	9	4	176	4	CPA2	7	129909521	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08	30215892	129909521	29229142	38	528											
NOS3	4846	broad.mit.edu	37	7	150699008	150699008	+	Silent	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:150699008C>T	uc003wif.3	+	12	1898	c.1602C>T	c.(1600-1602)taC>taT	p.Y534Y	NOS3_uc011kuy.2_Silent_p.Y328Y|NOS3_uc011kva.2_Silent_p.Y534Y|NOS3_uc011kuz.2_Silent_p.Y534Y|NOS3_uc011kvb.2_Silent_p.Y534Y	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	534	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCCAGAGCTACGCACAGCAGC	0.637													T	150699008	C	T	150699008	2	4	8	1	0	0	0	0	0	0	0	1	10544	547	19	1		1	NOS3	7	150699008	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	20789487	150699008	8439655	39	529											
GFRA2	2675	broad.mit.edu	37	8	21608207	21608207	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:21608207G>A	uc003wzu.1	-	3	1362	c.687C>T	c.(685-687)tgC>tgT	p.C229C	GFRA2_uc003wzv.1_Silent_p.C124C|GFRA2_uc003wzw.1_Silent_p.C96C|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	229						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCGCTCAGCGCACGCCTGGT	0.657													A	21608207	G	A	21608207	2	1	8	1	0	0	0	0	0	0	0	1	6348	1079	38	1		1	GFRA2	8	21608207	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08		21608207	124755815	40	530											
FAM150A	389658	broad.mit.edu	37	8	53452429	53452429	+	Missense_Mutation	SNP	C	C	T	rs145116532		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:53452429C>T	uc003xrd.3	-	2	492	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	FAM150A_uc011ldt.2_Missense_Mutation_p.R96Q	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	Homo sapiens family with sequence similarity 150, member A (FAM150A), mRNA.	96						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GTAATAGAGTCGGTGGAAATG	0.363													T	53452429	C	T	53452429	3	4	8	1	0	0	0	0	1	0	0	0	5456	884	31	2	110	2	FAM150A	8	53452429	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	31844222	53452429	92911593	41	531											
CSMD3	114788	broad.mit.edu	37	8	114326801	114326801	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:114326801T>A	uc003ynu.3	-	2	560	c.401_splice	c.e2+1	p.R134_splice	CSMD3_uc003ynt.3_Splice_Site_p.R94_splice|CSMD3_uc011lhx.2_Splice_Site_p.R134_splice|CSMD3_uc010mcx.1_Splice_Site_p.R134_splice|CSMD3_uc003ynx.4_Missense_Mutation_p.R134W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	134	CUB 1.					integral to membrane|plasma membrane				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						CACACTAACCTTGTCCTAAAG	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	114326801	T	A	114326801	3	1	8	1	0	0	0	0	1	0	0	0	3946	1623	56	5	11003	5	CSMD3	8	114326801	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	60874372	114326801	32037221	42	532											
PTPN3	5774	broad.mit.edu	37	9	112185070	112185070	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:112185070C>T	uc004bed.2	-	12	1176	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	PTPN3_uc004beb.2_Missense_Mutation_p.R224Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.R68Q|PTPN3_uc011lwf.1_Intron	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	355					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAGGATCTCCGCATGGCTGG	0.453													T	112185070	C	T	112185070	3	4	8	1	0	0	0	0	1	0	0	0	12789	652	23	2	1733	2	PTPN3	9	112185070	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		112185070	29028361	43	533											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900697	112900697	+	Missense_Mutation	SNP	G	G	A	rs139808664		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:112900697G>A	uc004bei.2	+	8	3761	c.3569G>A	c.(3568-3570)cGa>cAa	p.R1190Q	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R768Q|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R776Q|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R727Q|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R727Q	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	727							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAAGAGATCCGAGCAGCTCAG	0.552													A	112900697	G	A	112900697	3	1	8	1	0	0	0	0	1	0	0	0	11410	1058	37	2	2903	2	PALM2-AKAP2	9	112900697	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	715627	112900697	28312734	44	534											
CRTAC1	55118	broad.mit.edu	37	10	99683092	99683092	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr10:99683092C>T	uc001kou.2	-	3	843	c.487G>A	c.(487-489)Gat>Aat	p.D163N	CRTAC1_uc001kov.3_Missense_Mutation_p.D163N|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	163						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTGACCTCATCGCTCAGGATG	0.612													T	99683092	C	T	99683092	3	4	8	1	0	0	0	0	1	0	0	0	3896	884	31	2	1546	2	CRTAC1	10	99683092	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		99683092	35851655	45	535											
DEAF1	10522	broad.mit.edu	37	11	688025	688025	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:688025C>T	uc001lqq.1	-	3	1243	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.G184S	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	184					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TTTTCTTGGCCGGGAGCCAGA	0.547													T	688025	C	T	688025	3	4	8	1	0	0	0	0	1	0	0	0	4380	652	23	2	1183	2	DEAF1	11	688025	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		688025	134318491	46	536											
OR51E1	143503	broad.mit.edu	37	11	4674216	4674216	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:4674216C>T	uc021qcq.1	+	0	460	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	OR51E1_uc001lzi.4_Missense_Mutation_p.R154W	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGC	0.557													T	4674216	C	T	4674216	3	4	8	1	0	0	0	0	1	0	0	0	11094	759	27	1	462	1	OR51E1	11	4674216	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	3986191	4674216	130332300	47	537											
OR2AG1	144125	broad.mit.edu	37	11	6807033	6807033	+	Silent	SNP	C	C	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:6807033C>G	uc001mer.2	+	0	786	c.765C>G	c.(763-765)gcC>gcG	p.A255A		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGAGCTGCCACATTCATGT	0.488													G	6807033	C	G	6807033	2	3	8	1	0	0	0	0	0	0	0	1	10984	581	21	5		5	OR2AG1	11	6807033	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	2132817	6807033	128199483	48	538											
OR4C12	283093	broad.mit.edu	37	11	50004010	50004010	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:50004010A>G	uc010ria.2	-	0	62	c.28T>C	c.(28-30)Ttc>Ctc	p.F10L		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E9K(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTAAAATGAATTCAGTCACA	0.338													G	50004010	A	G	50004010	3	3	8	1	0	0	0	0	1	0	0	0	11046	101	4	4	905	4	OR4C12	11	50004010	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08	43196977	50004010	85002506	49	539											
FIBP	9158	broad.mit.edu	37	11	65655866	65655866	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:65655866G>A	uc001ogd.3	-	0	145	c.24C>T	c.(22-24)ttC>ttT	p.F8F	FIBP_uc001oge.3_Silent_p.F8F|FIBP_uc010roq.1_Silent_p.F8F|FIBP_uc010ror.1_Silent_p.F8F|CCDC85B_uc001ogf.3_5'Flank	NM_198897	NP_942600	O43427	FIBP_HUMAN	Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.	8					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGTTCCCCACGAAGATGTCCA	0.682											OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65655866	G	A	65655866	2	1	8	1	0	0	0	0	0	0	0	1	5886	1049	37	2		2	FIBP	11	65655866	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	15651856	65655866	69350650	50	540											
MMP1	4312	broad.mit.edu	37	11	102663439	102663439	+	Silent	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:102663439C>T	uc001phi.2	-	6	1073	c.930G>A	c.(928-930)ccG>ccA	p.P310P	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.P244P	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	310	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GCTCAACTTCCGGGTAGAAGG	0.423													T	102663439	C	T	102663439	2	4	8	1	0	0	0	0	0	0	0	1	9648	639	23	2		2	MMP1	11	102663439	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	37007573	102663439	32343077	51	541											
OR8D4	338662	broad.mit.edu	37	11	123777647	123777647	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:123777647G>A	uc010saa.2	+	0	509	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418													A	123777647	G	A	123777647	3	1	8	1	0	0	0	0	1	0	0	0	11233	1174	41	3	511	3	OR8D4	11	123777647	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	21114208	123777647	11228869	52	542											
KCNMB4	27345	broad.mit.edu	37	12	70793987	70793987	+	Splice_Site	DEL	A	A	-			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:70793987delA	uc001svx.3	+	2	790	c.337_splice	c.e2-2	p.C113_splice		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	113					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTATTTTGTTAGTGCTCCTAT	0.333													-	70793987	A	-	70793987	8	5	8	1	0	1	0	1	0	0	1	0	8077	434	15	0	341	0	KCNMB4	12	70793987	Splice_Site	DEL	A	TCGA-02-2486-01A-01D-1494-08		70793987	63057908	53	543											
ANKS1B	56899	broad.mit.edu	37	12	100166859	100166859	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:100166859G>A	uc001tge.2	-	7	1386	c.969C>T	c.(967-969)acC>acT	p.T323T	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Silent_p.T289T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	323						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCCAGTGACGGTTTCACCTA	0.323													A	100166859	G	A	100166859	2	1	8	1	0	0	0	0	0	0	0	1	689	1103	39	2		2	ANKS1B	12	100166859	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	29372872	100166859	33685036	54	544											
KDM2B	84678	broad.mit.edu	37	12	121880300	121880300	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:121880300C>T	uc001uat.3	-	18	3048	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	KDM2B_uc010szy.2_Missense_Mutation_p.E422K|KDM2B_uc001uaq.3_Missense_Mutation_p.E422K|KDM2B_uc001uar.3_Missense_Mutation_p.E573K|KDM2B_uc001uas.3_Missense_Mutation_p.E913K|KDM2B_uc021rfd.1_Missense_Mutation_p.E913K|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.E982K|KDM2B_uc001uao.3_Missense_Mutation_p.E230K|KDM2B_uc010szx.2_Missense_Mutation_p.E230K|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	982					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGGGCTCCTCGCCCTCGCTC	0.687													T	121880300	C	T	121880300	3	4	8	1	0	0	0	0	1	0	0	0	8125	893	31	2	1138	2	KDM2B	12	121880300	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	21713441	121880300	11971595	55	545											
PAN3	255967	broad.mit.edu	37	13	28841518	28841518	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr13:28841518A>C	uc001urz.3	+	11	1924	c.1772A>C	c.(1771-1773)tAc>tCc	p.Y591S	PAN3_uc010tdo.1_Missense_Mutation_p.Y591S|PAN3_uc001ury.3_Missense_Mutation_p.Y279S|PAN3_uc001urx.3_Missense_Mutation_p.Y391S	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	591	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTGATGCCTACTTCACCAAG	0.363													C	28841518	A	C	28841518	3	2	8	1	0	0	0	0	1	0	0	0	11415	391	14	5	1818	5	PAN3	13	28841518	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08		28841518	86328360	56	546											
RXFP2	122042	broad.mit.edu	37	13	32360537	32360537	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr13:32360537C>T	uc001utt.3	+	11	1018	c.947C>T	c.(946-948)aCg>aTg	p.T316M	RXFP2_uc010aba.3_Missense_Mutation_p.T292M	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	316						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTAGCAATACGATAACGGAA	0.358													T	32360537	C	T	32360537	3	4	8	1	0	0	0	0	1	0	0	0	13760	536	19	1	993	1	RXFP2	13	32360537	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	3519019	32360537	82809341	57	547											
SLCO3A1	28232	broad.mit.edu	37	15	92663774	92663774	+	Silent	SNP	A	A	C			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr15:92663774A>C	uc002bqx.2	+	4	1290	c.1089A>C	c.(1087-1089)gcA>gcC	p.A363A	SLCO3A1_uc002bqy.2_Silent_p.A363A|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.A305A	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	363					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGGAGATTGCAGTGGTGGCTG	0.567													C	92663774	A	C	92663774	2	2	8	1	0	0	0	0	0	0	0	1	14728	175	7	5		5	SLCO3A1	15	92663774	Silent	SNP	A	TCGA-02-2486-01A-01D-1494-08		92663774	9867618	58	548											
PDIA2	64714	broad.mit.edu	37	16	334899	334899	+	Missense_Mutation	SNP	G	G	A	rs141542731	by1000genomes	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr16:334899G>A	uc002cgn.1	+	8	1670	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.A188T|PDIA2_uc010bqt.1_Missense_Mutation_p.A33T	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	188					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGAGGACGTGGCCACCTTCTT	0.672													A	334899	G	A	334899	3	1	8	1	0	0	0	0	1	0	0	0	11668	1203	42	3	576	3	PDIA2	16	334899	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		334899	90019854	59	549											
MYH13	8735	broad.mit.edu	37	17	10212612	10212612	+	Missense_Mutation	SNP	C	C	T	rs142532419	by1000genomes	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:10212612C>T	uc002gmk.1	-	34	5198	c.5108G>A	c.(5107-5109)cGc>cAc	p.R1703H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1703					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1703S(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGACAGCCTGCGGGTCCGCTC	0.667													T	10212612	C	T	10212612	3	4	8	1	0	0	0	0	1	0	0	0	10032	768	27	1	736	1	MYH13	17	10212612	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		10212612	70982598	60	550											
STAT5A	6776	broad.mit.edu	37	17	40458321	40458321	+	Silent	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:40458321C>T	uc002hzj.2	+	13	2178	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	STAT5A_uc010cya.2_Silent_p.N512N|STAT5A_uc010cyb.2_Silent_p.N481N|STAT5A_uc010cyc.2_Silent_p.N482N|STAT5A_uc010cyd.1_5'UTR|STAT5A_uc010cye.1_5'UTR	NM_003152	NP_003143	P42229	STA5A_HUMAN	Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.	512					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGGCGCTCAACATGAAATTCA	0.572													T	40458321	C	T	40458321	2	4	8	1	0	0	0	0	0	0	0	1	15267	477	17	3		3	STAT5A	17	40458321	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	30245709	40458321	40736889	61	551											
MPP3	4356	broad.mit.edu	37	17	41888484	41888484	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:41888484T>G	uc002ieh.3	-	14	1681	c.1420A>C	c.(1420-1422)Aac>Cac	p.N474H	MPP3_uc002iei.4_Missense_Mutation_p.N449H|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	449	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ACGTACTTGTTGTGATGTAAG	0.483													G	41888484	T	G	41888484	3	3	8	1	0	0	0	0	1	0	0	0	9735	1812	63	5	428	5	MPP3	17	41888484	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	1430163	41888484	39306726	62	552											
ASXL3	80816	broad.mit.edu	37	18	31320334	31320334	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr18:31320334G>A	uc010dmg.1	+	10	3021	c.2966G>A	c.(2965-2967)cGg>cAg	p.R989Q	ASXL3_uc002kxq.2_Missense_Mutation_p.R696Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	989					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGTCAACCCGGAACATATCA	0.433													A	31320334	G	A	31320334	3	1	8	1	0	0	0	0	1	0	0	0	1068	1116	39	2	3008	2	ASXL3	18	31320334	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		31320334	46756914	63	553											
ZNF516	9658	broad.mit.edu	37	18	74154420	74154420	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr18:74154420G>T	uc021ulp.1	-	2	909	c.591C>A	c.(589-591)caC>caA	p.H197Q		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGAACGGCTTGTGCGCCTGGT	0.667													T	74154420	G	T	74154420	3	4	8	1	0	0	0	0	1	0	0	0	17957	1368	48	5	2921	5	ZNF516	18	74154420	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	42834086	74154420	3922828	64	554											
CCDC105	126402	broad.mit.edu	37	19	15132195	15132195	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:15132195G>A	uc002nae.2	+	3	1004	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	302					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAAGCCAAGCGGTTGTTGGTC	0.597													A	15132195	G	A	15132195	3	1	8	1	0	0	0	0	1	0	0	0	2740	1116	39	2	919	2	CCDC105	19	15132195	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		15132195	43996788	65	555											
TMEM161A	54929	broad.mit.edu	37	19	19232455	19232455	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:19232455T>C	uc002nlg.3	-	7	709	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	TMEM161A_uc002nli.3_Missense_Mutation_p.I124V	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	227					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		p.I227I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CCCACGCGGATAGCCAGCTTG	0.677													C	19232455	T	C	19232455	3	2	8	1	0	0	0	0	1	0	0	0	16073	1406	49	4	780	4	TMEM161A	19	19232455	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	4100260	19232455	39896528	66	556											
NUP62	23636	broad.mit.edu	37	19	50411934	50411934	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:50411934G>A	uc002prb.3	-	1	1375	c.1131C>T	c.(1129-1131)cgC>cgT	p.R377R	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.R377R|NUP62_uc002pqy.3_Silent_p.R377R|NUP62_uc002pra.3_Silent_p.R377R|NUP62_uc002pqz.3_Silent_p.R377R|NUP62_uc002prc.3_Silent_p.R301R|NUP62_uc021uya.1_Silent_p.R377R	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	377					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCTCCACCTCGCGGTGCAGGC	0.612													A	50411934	G	A	50411934	2	1	8	1	0	0	0	0	0	0	0	1	10768	1074	38	1		1	NUP62	19	50411934	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	31179479	50411934	8717049	67	557											
ISM1	140862	broad.mit.edu	37	20	13279712	13279712	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr20:13279712C>T	uc010gce.1	+	5	1007	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	334	AMOP.					extracellular region		p.T334T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCCTACAGCACGGCCGACATC	0.582													T	13279712	C	T	13279712	3	4	8	1	0	0	0	0	1	0	0	0	7860	536	19	1	1023	1	ISM1	20	13279712	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		13279712	49745808	68	558											
GRPR	2925	broad.mit.edu	37	X	16142187	16142187	+	Silent	SNP	G	G	A			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chrX:16142187G>A	uc004cxj.3	+	0	764	c.111G>A	c.(109-111)ccG>ccA	p.P37P		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	37					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGTCCCACCCGGGGATCCTCT	0.488											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	16142187	G	A	16142187	2	1	8	1	0	0	0	0	0	0	0	1	6808	1103	39	2		2	GRPR	23	16142187	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08		16142187	139128373	69	559											
TTC22	55001	broad.mit.edu	37	1	55266546	55266546	+	Silent	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:55266546C>T	uc009vzt.1	-	0	396	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TTC22_uc001cxz.4_Silent_p.P97P	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	97							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TGAGGTTGCCCGGGTGCTCGT	0.687													T	55266546	C	T	55266546	2	4	9	1	0	0	0	0	0	0	0	1	16686	639	23	2		2	TTC22	1	55266546	Silent	SNP	C	TCGA-06-0119-01A-08D-1490-08		55266546	193984075	1	560											
SPAG17	200162	broad.mit.edu	37	1	118624163	118624163	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:118624163C>G	uc001ehk.2	-	13	1933	c.1865G>C	c.(1864-1866)gGg>gCg	p.G622A	SPAG17_uc021oss.1_5'Flank	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	622						cilium|flagellar axoneme|microtubule		p.G622G(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)		ACACATCATCCCAGAAGGTTT	0.428													G	118624163	C	G	118624163	3	3	9	1	0	0	0	0	1	0	0	0	14979	623	22	5	4946	5	SPAG17	1	118624163	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	63357617	118624163	130626458	2	561											
ADAM30	11085	broad.mit.edu	37	1	120438344	120438344	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:120438344C>G	uc001eij.3	-	0	804	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	206	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGGATCAATTCCAAGTACTTT	0.403													G	120438344	C	G	120438344	3	3	9	1	0	0	0	0	1	0	0	0	248	864	30	5	1760	5	ADAM30	1	120438344	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	1814181	120438344	128812277	3	562											
GPR52	9293	broad.mit.edu	37	1	174417320	174417320	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:174417320G>A	uc001gka.1	+	0	109	c.71G>A	c.(70-72)cGt>cAt	p.R24H	RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	Homo sapiens G protein-coupled receptor 52 (GPR52), mRNA.	24						integral to plasma membrane	G-protein coupled receptor activity	p.R24H(2)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GTGTCCGAGCGTCACTCCTGC	0.483													A	174417320	G	A	174417320	3	1	9	1	0	0	0	0	1	0	0	0	6698	1145	40	1	73	1	GPR52	1	174417320	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	53978976	174417320	74833301	4	563											
HMCN1	83872	broad.mit.edu	37	1	186056355	186056355	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:186056355G>A	uc001grq.1	+	58	9282	c.9053G>A	c.(9052-9054)cGa>cAa	p.R3018Q	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3018	Ig-like C2-type 28.				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						ACAGGTGGTCGAACTCTACAG	0.383													A	186056355	G	A	186056355	3	1	9	1	0	0	0	0	1	0	0	0	7220	1058	37	2	9287	2	HMCN1	1	186056355	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	11639035	186056355	63194266	5	564											
COG2	22796	broad.mit.edu	37	1	230807312	230807312	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:230807312G>C	uc001htw.3	+	7	976	c.825G>C	c.(823-825)atG>atC	p.M275I	COG2_uc001htx.3_Missense_Mutation_p.M275I|COG2_uc010pwc.2_Missense_Mutation_p.M148I	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	275					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTCAGGTCATGTATAATAAAC	0.393													C	230807312	G	C	230807312	3	2	9	1	0	0	0	0	1	0	0	0	3658	1377	48	5	855	5	COG2	1	230807312	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	44750957	230807312	18443309	6	565											
PCNXL2	80003	broad.mit.edu	37	1	233394169	233394169	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:233394169T>C	uc001hvl.2	-	4	1674	c.1439A>G	c.(1438-1440)aAg>aGg	p.K480R	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	480						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTGTGATCCTTGATGGCATT	0.542													C	233394169	T	C	233394169	3	2	9	1	0	0	0	0	1	0	0	0	11592	1609	56	4	5094	4	PCNXL2	1	233394169	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	2586857	233394169	15856452	7	566											
C2orf16	84226	broad.mit.edu	37	2	27801373	27801373	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:27801373T>C	uc002rkz.4	+	0	1985	c.1934T>C	c.(1933-1935)gTa>gCa	p.V645A		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	645										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAACTGATAGTACCTGCAGAA	0.403													C	27801373	T	C	27801373	3	2	9	1	0	0	0	0	1	0	0	0	2157	1638	57	4	1936	4	C2orf16	2	27801373	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08		27801373	215398000	8	567											
SLC9A4	389015	broad.mit.edu	37	2	103149074	103149074	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:103149074C>T	uc002tbz.4	+	11	2781	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	775					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.R774W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GAGGTTCGGTCGAGGTGGACA	0.517													T	103149074	C	T	103149074	3	4	9	1	0	0	0	0	1	0	0	0	14716	893	31	2	2370	2	SLC9A4	2	103149074	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	75347701	103149074	140050299	9	568											
LRP2	4036	broad.mit.edu	37	2	169985569	169985569	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:169985569C>T	uc002ues.3	-	77	13967	c.13754G>A	c.(13753-13755)cGa>cAa	p.R4585Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4585					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R4585*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTAGATTTTCGTTTGAAGAG	0.313													T	169985569	C	T	169985569	3	4	9	1	0	0	0	0	1	0	0	0	8956	884	31	2	221	2	LRP2	2	169985569	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	66836495	169985569	73213804	10	569											
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:179463526C>T	uc021vsy.1	-	239	49432	c.49207G>A	c.(49207-49209)Gtg>Atg	p.V16403M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10098M|TTN_uc021vta.1_Missense_Mutation_p.V10031M|TTN_uc021vtb.1_Missense_Mutation_p.V9906M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17330	Ig-like 100.						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)			GCTGGACCCACGCCAGCAGCA	0.428													T	179463526	C	T	179463526	3	4	9	1	0	0	0	0	1	0	0	0	16732	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	9477957	179463526	63735847	11	570											
PID1	55022	broad.mit.edu	37	2	229890703	229890703	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:229890703T>C	uc002vpr.4	-	2	436	c.398A>G	c.(397-399)aAt>aGt	p.N133S	PID1_uc002vps.4_Missense_Mutation_p.N131S|PID1_uc002vpt.4_Missense_Mutation_p.N100S|PID1_uc002vpu.4_Missense_Mutation_p.N51S	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	133	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CAGGAGGGCATTGGCCGGAAA	0.557													C	229890703	T	C	229890703	3	2	9	1	0	0	0	0	1	0	0	0	11882	1493	52	4	358	4	PID1	2	229890703	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	50427177	229890703	13308670	12	571											
COL6A3	1293	broad.mit.edu	37	2	238285526	238285526	+	Missense_Mutation	SNP	C	C	T	rs140437593	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:238285526C>T	uc002vwl.2	-	6	3244	c.2959G>A	c.(2959-2961)Gtg>Atg	p.V987M	COL6A3_uc002vwo.2_Missense_Mutation_p.V781M|COL6A3_uc010znj.1_Missense_Mutation_p.V380M|COL6A3_uc002vwq.3_Missense_Mutation_p.V781M|COL6A3_uc002vwr.3_Missense_Mutation_p.V580M|COL6A3_uc010znk.1_Missense_Mutation_p.V787M	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	987	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		GGAGACAGCACGATCTGCTCT	0.512													T	238285526	C	T	238285526	3	4	9	1	0	0	0	0	1	0	0	0	3701	536	19	1	6773	1	COL6A3	2	238285526	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	8394823	238285526	4913847	13	572											
CACNA1D	776	broad.mit.edu	37	3	53769408	53769408	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr3:53769408G>A	uc003dgv.4	+	19	2792	c.2629G>A	c.(2629-2631)Gta>Ata	p.V877I	CACNA1D_uc003dgu.4_Missense_Mutation_p.V897I|CACNA1D_uc003dgy.4_Missense_Mutation_p.V877I|CACNA1D_uc003dgw.4_Missense_Mutation_p.V544I|CACNA1D_uc003dgx.1_Missense_Mutation_p.V25I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	877					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAGGATCCGCGTAGGCTGCCA	0.587													A	53769408	G	A	53769408	3	1	9	1	0	0	0	0	1	0	0	0	2541	1145	40	1	2879	1	CACNA1D	3	53769408	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		53769408	144253022	14	573											
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	9	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	125166683	178936091	19086339	15	574											
CSN2	1447	broad.mit.edu	37	4	70823297	70823297	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr4:70823297G>T	uc003hes.4	-	4	383	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	CSN2_uc003het.4_Missense_Mutation_p.P123T	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	124					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCAAAAAAGGGTATCGTTGGA	0.483													T	70823297	G	T	70823297	3	4	9	1	0	0	0	0	1	0	0	0	3948	1261	44	5	318	5	CSN2	4	70823297	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		70823297	120330979	16	575											
KIAA1109	84162	broad.mit.edu	37	4	123200986	123200986	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr4:123200986G>T	uc003ieh.3	+	48	8693	c.8648G>T	c.(8647-8649)gGg>gTg	p.G2883V	KIAA1109_uc003iel.1_Missense_Mutation_p.G818V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2883					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCCAAAGAGGGCTGAAGACA	0.433													T	123200986	G	T	123200986	3	4	9	1	0	0	0	0	1	0	0	0	8208	1232	43	5	8842	5	KIAA1109	4	123200986	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	52377689	123200986	67953290	17	576											
ADAMTS16	170690	broad.mit.edu	37	5	5262847	5262847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:5262847C>T	uc003jdl.3	+	17	2878	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.R914*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	914	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TCCCAAGACACGACCTGTCAC	0.512													T	5262847	C	T	5262847	4	4	9	1	0	0	0	0	0	1	0	0	261	528	19	1	2810	1	ADAMTS16	5	5262847	Nonsense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		5262847	175652413	18	577											
PCDHB15	56121	broad.mit.edu	37	5	140627258	140627258	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:140627258G>A	uc003lje.3	+	0	2112	c.2112G>A	c.(2110-2112)tcG>tcA	p.S704S		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	704					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTCTCGGTGTTCCTGT	0.682													A	140627258	G	A	140627258	2	1	9	1	0	0	0	0	0	0	0	1	11540	1103	39	2		2	PCDHB15	5	140627258	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	135364411	140627258	40288002	19	578											
KCTD16	57528	broad.mit.edu	37	5	143586570	143586570	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:143586570A>T	uc003lnm.1	+	2	922	c.293A>T	c.(292-294)gAt>gTt	p.D98V	KCTD16_uc003lnn.1_Missense_Mutation_p.D98V	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	98	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTCCTGCCTGATCACTTTCCA	0.478													T	143586570	A	T	143586570	3	4	9	1	0	0	0	0	1	0	0	0	8103	333	12	5	295	5	KCTD16	5	143586570	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	2959312	143586570	37328690	20	579											
OR12D2	26529	broad.mit.edu	37	6	29364556	29364556	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:29364556T>C	uc003nmf.4	+	0	141	c.80T>C	c.(79-81)gTg>gCg	p.V27A		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTTCTCTTCGTGGTTTTCCTC	0.438													C	29364556	T	C	29364556	3	2	9	1	0	0	0	0	1	0	0	0	10931	1696	59	4	82	4	OR12D2	6	29364556	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08		29364556	141750511	21	580											
UBD	10537	broad.mit.edu	37	6	29523710	29523710	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:29523710C>T	uc003nmo.3	-	1	669	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	149	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTTCTGATGCCGTAATCTGCC	0.473													T	29523710	C	T	29523710	3	4	9	1	0	0	0	0	1	0	0	0	16840	652	23	2	56	2	UBD	6	29523710	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	159154	29523710	141591357	22	581											
COL12A1	1303	broad.mit.edu	37	6	75840567	75840567	+	Splice_Site	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:75840567C>T	uc021zbv.1	-	35	6102	c.6067_splice	c.e35+1	p.L2023_splice	COL12A1_uc021zbw.1_Splice_Site_p.L859_splice|COL12A1_uc003phs.3_Splice_Site_p.L2023_splice|COL12A1_uc003pht.3_Splice_Site_p.L859_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2023					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCTGCCTCACGCGTTCGGCC	0.562													T	75840567	C	T	75840567	5	4	9	1	0	0	0	0	0	0	1	0	3669	550	19	1	3247	1	COL12A1	6	75840567	Splice_Site	SNP	C	TCGA-06-0119-01A-08D-1490-08	46316857	75840567	95274500	23	582											
THEMIS	387357	broad.mit.edu	37	6	128134889	128134889	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:128134889G>A	uc011ebt.2	-	3	1046	c.897C>T	c.(895-897)agC>agT	p.S299S	THEMIS_uc010kfa.3_Silent_p.S202S|THEMIS_uc021zfa.1_Silent_p.S299S|THEMIS_uc010kfb.3_Silent_p.S264S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	299	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTGTAAAATGCTTTGGGGCA	0.393													A	128134889	G	A	128134889	2	1	9	1	0	0	0	0	0	0	0	1	15857	1310	46	3		3	THEMIS	6	128134889	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	52294322	128134889	42980178	24	583											
GPR126	57211	broad.mit.edu	37	6	142736934	142736934	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:142736934delA	uc010khe.3	+	20	3081	c.2670_splice	c.e20-1	p.E890_splice	GPR126_uc010khc.3_Splice_Site_p.E890_splice|GPR126_uc010khd.3_Splice_Site_p.E862_splice|GPR126_uc010khf.3_Splice_Site_p.E862_splice	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	890					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)		ATTTTTTAGGAAATTGCGAAG	0.398													-	142736934	A	-	142736934	7	5	9	1	0	1	0	1	0	0	0	0	6640	260	9	0	2749	0	GPR126	6	142736934	Frame_Shift_Del	DEL	A	TCGA-06-0119-01A-08D-1490-08	14602045	142736934	28378133	25	584											
SEMA3E	9723	broad.mit.edu	37	7	83016344	83016344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:83016344G>A	uc003uhy.2	-	14	2311	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	SEMA3E_uc022agy.1_Nonsense_Mutation_p.R504*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	564					axon guidance	extracellular space|membrane	receptor activity	p.R564Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTCCATGTCGAACATCTTGT	0.363													A	83016344	G	A	83016344	4	1	9	1	0	0	0	0	0	1	0	0	14028	1066	37	2	649	2	SEMA3E	7	83016344	Nonsense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		83016344	76122319	26	585											
COL1A2	1278	broad.mit.edu	37	7	94052404	94052404	+	Missense_Mutation	SNP	G	G	A	rs72658196		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:94052404G>A	uc003ung.1	+	39	3010	c.2539G>A	c.(2539-2541)Ggt>Agt	p.G847S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	847			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G847S(2)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGAGAAGGGTCCCTCTGG	0.502										HNSCC(75;0.22)			A	94052404	G	A	94052404	3	1	9	1	0	0	0	0	1	0	0	0	3678	1232	43	3	2697	3	COL1A2	7	94052404	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	11036060	94052404	65086259	27	586											
TRIM4	89122	broad.mit.edu	37	7	99516919	99516919	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:99516919G>T	uc003usd.3	-	0	305	c.106C>A	c.(106-108)Ctg>Atg	p.L36M	TRIM4_uc003use.3_Missense_Mutation_p.L36M|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Missense_Mutation_p.L36M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	36					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TTGCGGTGCAGGCAGCCGCGG	0.701													T	99516919	G	T	99516919	3	4	9	1	0	0	0	0	1	0	0	0	16511	991	35	5	1424	5	TRIM4	7	99516919	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	5464515	99516919	59621744	28	587											
OR2A12	346525	broad.mit.edu	37	7	143792582	143792582	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:143792582C>A	uc011kty.2	+	0	382	c.382C>A	c.(382-384)Ccc>Acc	p.P128T		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AATCTGTCACCCCTTGCAATA	0.433													A	143792582	C	A	143792582	3	1	9	1	0	0	0	0	1	0	0	0	10975	623	22	5	384	5	OR2A12	7	143792582	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	44275663	143792582	15346081	29	588											
PTK2B	2185	broad.mit.edu	37	8	27301729	27301729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:27301729C>T	uc003xfn.2	+	27	2963	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*	PTK2B_uc022ate.1_Nonsense_Mutation_p.R719*|PTK2B_uc003xfp.2_Nonsense_Mutation_p.R719*|PTK2B_uc003xfq.2_Nonsense_Mutation_p.R719*|PTK2B_uc003xfr.1_Nonsense_Mutation_p.R465*	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	719	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCAGCCCAGCCGACCTAAGTA	0.542													T	27301729	C	T	27301729	4	4	9	1	0	0	0	0	0	1	0	0	12763	644	23	2	2241	2	PTK2B	8	27301729	Nonsense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		27301729	119062293	30	589											
RAD54B	25788	broad.mit.edu	37	8	95403893	95403893	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:95403893T>A	uc003ygk.3	-	9	1884	c.1753A>T	c.(1753-1755)Ata>Tta	p.I585L	RAD54B_uc010may.2_Missense_Mutation_p.I401L|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGAGCTCCTATACATATTAGA	0.408								Direct reversal of damage;Homologous recombination					A	95403893	T	A	95403893	3	1	9	1	0	0	0	0	1	0	0	0	12992	1406	49	5	1003	5	RAD54B	8	95403893	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	68102164	95403893	50960129	31	590											
PLEC	5339	broad.mit.edu	37	8	144990758	144990758	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:144990758C>T	uc003zaf.1	-	31	13812	c.13642G>A	c.(13642-13644)Gcc>Acc	p.A4548T	PLEC_uc003zab.1_Missense_Mutation_p.A4411T|PLEC_uc003zac.1_Missense_Mutation_p.A4415T|PLEC_uc003zad.2_Missense_Mutation_p.A4411T|PLEC_uc003zae.1_Missense_Mutation_p.A4379T|PLEC_uc003zag.1_Missense_Mutation_p.A4389T|PLEC_uc003zah.2_Missense_Mutation_p.A4397T|PLEC_uc003zaj.2_Missense_Mutation_p.A4438T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4548	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGCAGGGCCTCGTCCAGG	0.682													T	144990758	C	T	144990758	3	4	9	1	0	0	0	0	1	0	0	0	12052	739	26	3	416	3	PLEC	8	144990758	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	49586865	144990758	1373264	32	591											
RMI1	80010	broad.mit.edu	37	9	86616796	86616796	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr9:86616796C>A	uc022bjb.1	+	0	895	c.895C>A	c.(895-897)Cca>Aca	p.P299T	RMI1_uc004anq.4_Missense_Mutation_p.P299T|RMI1_uc004anr.4_Missense_Mutation_p.P299T|RMI1_uc004anp.4_Missense_Mutation_p.P299T|RMI1_uc004ans.4_Missense_Mutation_p.P299T	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	299					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAAAGAGGAACCATCAAACCT	0.398													A	86616796	C	A	86616796	3	1	9	1	0	0	0	0	1	0	0	0	13395	507	18	5	897	5	RMI1	9	86616796	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		86616796	54596635	33	592											
LHX3	8022	broad.mit.edu	37	9	139092527	139092527	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr9:139092527C>A	uc004cgz.3	-	1	286	c.167G>T	c.(166-168)tGg>tTg	p.W56L	LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Missense_Mutation_p.W51L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	51	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTTGCTGTGCCAGTGGCGGTC	0.607													A	139092527	C	A	139092527	3	1	9	1	0	0	0	0	1	0	0	0	8772	595	21	5	1061	5	LHX3	9	139092527	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	52475731	139092527	2120904	34	593											
OR56A4	120793	broad.mit.edu	37	11	6023660	6023660	+	Missense_Mutation	SNP	G	G	A	rs116778909	by1000genomes	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:6023660G>A	uc010qzv.2	-	0	719	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S240F(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAGTTTGGACACAGACAG	0.443													A	6023660	G	A	6023660	3	1	9	1	0	0	0	0	1	0	0	0	11135	1174	41	3	380	3	OR56A4	11	6023660	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		6023660	128982856	35	594											
NAT10	55226	broad.mit.edu	37	11	34129864	34129864	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:34129864A>C	uc001mvk.3	+	1	336	c.92A>C	c.(91-93)gAt>gCt	p.D31A	NAT10_uc010ren.2_Intron	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	31						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GTAGTTGGGGATCGAGGAAAA	0.423													C	34129864	A	C	34129864	3	2	9	1	0	0	0	0	1	0	0	0	10174	333	12	5	94	5	NAT10	11	34129864	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	28106204	34129864	100876652	36	595											
OR8K3	219473	broad.mit.edu	37	11	56086106	56086106	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:56086106T>G	uc010rjf.2	+	0	324	c.324T>G	c.(322-324)atT>atG	p.I108M		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGTGTTCATTGGTAGTGAAC	0.378													G	56086106	T	G	56086106	3	3	9	1	0	0	0	0	1	0	0	0	11244	1800	63	5	326	5	OR8K3	11	56086106	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	21956242	56086106	78920410	37	596											
TPCN2	219931	broad.mit.edu	37	11	68854047	68854047	+	Missense_Mutation	SNP	A	A	G	rs150476703		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:68854047A>G	uc001oos.2	+	22	2176	c.2060A>G	c.(2059-2061)aAc>aGc	p.N687S	TPCN2_uc010rqg.1_Intron|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	687					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATCTGGGTCAACCTGTTTCTG	0.532													G	68854047	A	G	68854047	3	3	9	1	0	0	0	0	1	0	0	0	16393	43	2	4	2150	4	TPCN2	11	68854047	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	12767941	68854047	66152469	38	597											
SLCO1A2	6579	broad.mit.edu	37	12	21457447	21457447	+	Missense_Mutation	SNP	C	C	T	rs148616059	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:21457447C>T	uc001rer.3	-	4	754	c.503G>A	c.(502-504)cGt>cAt	p.R168H	SLCO1A2_uc010siq.2_Missense_Mutation_p.R36H|SLCO1A2_uc001res.3_Missense_Mutation_p.R168H|SLCO1A2_uc010sio.2_Missense_Mutation_p.R36H|SLCO1A2_uc010sip.2_Missense_Mutation_p.R36H|SLCO1A2_uc001ret.3_Missense_Mutation_p.R166H|SLCO1A2_uc001reu.2_Missense_Mutation_p.R148H	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	168					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.R168C(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACCCATTCCACGTACAATATT	0.348													T	21457447	C	T	21457447	3	4	9	1	0	0	0	0	1	0	0	0	14722	536	19	1	1549	1	SLCO1A2	12	21457447	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		21457447	112394448	39	598											
DDX11	1663	broad.mit.edu	37	12	31255360	31255360	+	Splice_Site	SNP	G	G	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:31255360G>T	uc001rjt.1	+	23	2523	c.2272_splice	c.e23-1	p.A758_splice	DDX11_uc001rjr.1_Splice_Site_p.A758_splice|DDX11_uc001rjs.1_Splice_Site_p.A708_splice|DDX11_uc001rju.1_Splice_Site_p.A430_splice|DDX11_uc001rjv.1_Splice_Site_p.A758_splice|DDX11_uc001rjw.1_Splice_Site_p.A732_splice|DDX11_uc009zjn.1_Splice_Site|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	758					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCTCCTACAGGCCTGTGGCC	0.577										Multiple Myeloma(12;0.14)			T	31255360	G	T	31255360	5	4	9	1	0	0	0	0	0	0	1	0	4343	1014	35	5	2357	5	DDX11	12	31255360	Splice_Site	SNP	G	TCGA-06-0119-01A-08D-1490-08	9797913	31255360	102596535	40	599											
NUP107	57122	broad.mit.edu	37	12	69124921	69124921	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:69124921T>C	uc001suf.3	+	20	1881	c.1766T>C	c.(1765-1767)aTa>aCa	p.I589T	NUP107_uc001sug.3_Intron|NUP107_uc010stj.2_Missense_Mutation_p.I560T	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	589					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACAAATCTTATAGCATTTTAT	0.303													C	69124921	T	C	69124921	3	2	9	1	0	0	0	0	1	0	0	0	10753	1406	49	4	1848	4	NUP107	12	69124921	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	37869561	69124921	64726974	41	600											
TRHDE	29953	broad.mit.edu	37	12	73014949	73014949	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:73014949T>A	uc001sxa.3	+	13	2426	c.2396T>A	c.(2395-2397)tTt>tAt	p.F799Y		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	799					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAAAATAATTTTAATGGATCT	0.323													A	73014949	T	A	73014949	3	1	9	1	0	0	0	0	1	0	0	0	16476	1841	64	5	2450	5	TRHDE	12	73014949	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	3890028	73014949	60836946	42	601											
FLT3	2322	broad.mit.edu	37	13	28592705	28592705	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr13:28592705C>T	uc001urw.3	-	19	2522	c.2440G>A	c.(2440-2442)Gcc>Acc	p.A814T	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	814	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACGTTCCTGGCGGCCAGGTCT	0.453			"Mis, O"		"AML, ALL"								T	28592705	C	T	28592705	3	4	9	1	0	0	0	0	1	0	0	0	5942	768	27	1	561	1	FLT3	13	28592705	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		28592705	86577173	43	602											
YLPM1	56252	broad.mit.edu	37	14	75264755	75264755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr14:75264755G>A	uc001xqj.4	+	4	2879	c.2755G>A	c.(2755-2757)Gta>Ata	p.V919I	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	724	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGAAGGGCCCGTAGAGCCCTC	0.483													A	75264755	G	A	75264755	3	1	9	1	0	0	0	0	1	0	0	0	17483	1145	40	1	2773	1	YLPM1	14	75264755	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		75264755	32084785	44	603											
SETD3	84193	broad.mit.edu	37	14	99866491	99866491	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr14:99866491G>A	uc001ygc.3	-	11	1453	c.1283C>T	c.(1282-1284)aCa>aTa	p.T428I		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	428					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	p.W427*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ttcaagaaatgtccaaagttt	0.373													A	99866491	G	A	99866491	3	1	9	1	0	0	0	0	1	0	0	0	14132	1377	48	3	509	3	SETD3	14	99866491	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	24601736	99866491	7483049	45	604											
HDC	3067	broad.mit.edu	37	15	50534686	50534686	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr15:50534686C>A	uc001zxz.3	-	11	2102	c.1760G>T	c.(1759-1761)tGc>tTc	p.C587F	HDC_uc001zxy.3_Missense_Mutation_p.C330F|HDC_uc010uff.2_Missense_Mutation_p.C554F	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	587					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CACACTGTTGCAACTGAGGGA	0.542													A	50534686	C	A	50534686	3	1	9	1	0	0	0	0	1	0	0	0	7015	710	25	5	232	5	HDC	15	50534686	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		50534686	51996706	46	605											
NUFIP2	57532	broad.mit.edu	37	17	27613998	27613998	+	Silent	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:27613998T>C	uc002hdy.4	-	1	1103	c.1014A>G	c.(1012-1014)aaA>aaG	p.K338K	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	338						nucleus|polysomal ribosome	protein binding|RNA binding			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)			CTGGGGGTGGTTTAAATAGGG	0.413													C	27613998	T	C	27613998	2	2	9	1	0	0	0	0	0	0	0	1	10749	1722	60	4		4	NUFIP2	17	27613998	Silent	SNP	T	TCGA-06-0119-01A-08D-1490-08		27613998	53581212	47	606											
NF1	4763	broad.mit.edu	37	17	29556163	29556163	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:29556163C>T	uc002hgg.3	+	20	2913	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F	NF1_uc002hgh.3_Missense_Mutation_p.L844F|NF1_uc010csn.2_Missense_Mutation_p.L704F|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	844			L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGGCTTCCTTTGTGCCCT	0.517			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29556163	C	T	29556163	3	4	9	1	0	0	0	0	1	0	0	0	10356	681	24	3	2673	3	NF1	17	29556163	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	1942165	29556163	51639047	48	607											
GAS2L2	246176	broad.mit.edu	37	17	34073181	34073181	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:34073181G>A	uc002hjv.2	-	5	1363	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	445					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTTGGTGGTGGCCTCAATGG	0.612													A	34073181	G	A	34073181	2	1	9	1	0	0	0	0	0	0	0	1	6247	1335	47	3		3	GAS2L2	17	34073181	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	4517018	34073181	47122029	49	608											
KRT28	162605	broad.mit.edu	37	17	38953242	38953242	+	Missense_Mutation	SNP	C	C	T	rs146193469	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:38953242C>T	uc002hvh.1	-	4	970	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	302	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TGGCTCCGGGCGAAAGTGGCT	0.662													T	38953242	C	T	38953242	3	4	9	1	0	0	0	0	1	0	0	0	8465	768	27	1	506	1	KRT28	17	38953242	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	4880061	38953242	42241968	50	609											
MTMR4	9110	broad.mit.edu	37	17	56581411	56581411	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:56581411C>A	uc002iwj.2	-	14	1766	c.1656_splice	c.e14+1	p.M552_splice		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	552	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGACTCACCATGTCTGAGC	0.483													A	56581411	C	A	56581411	3	1	9	1	0	0	0	0	1	0	0	0	9946	608	21	5	1955	5	MTMR4	17	56581411	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	17628169	56581411	24613799	51	610											
MTMR4	9110	broad.mit.edu	37	17	56585838	56585838	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:56585838C>T	uc002iwj.2	-	6	652	c.542G>A	c.(541-543)aGc>aAc	p.S181N		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	181	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGTAGTTGCTGTTGATGTG	0.527													T	56585838	C	T	56585838	3	4	9	1	0	0	0	0	1	0	0	0	9946	797	28	3	3097	3	MTMR4	17	56585838	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	4427	56585838	24609372	52	611											
GH1	2688	broad.mit.edu	37	17	61995152	61995152	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:61995152C>T	uc002jdj.3	-	3	486	c.424G>A	c.(424-426)Gac>Aac	p.D142N	GH1_uc002jdi.3_Missense_Mutation_p.D127N|GH1_uc002jdk.3_Missense_Mutation_p.D102N|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Intron	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	142					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			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TCCTCTAGGTCCTTTAGGAGG	0.587													T	61995152	C	T	61995152	3	4	9	1	0	0	0	0	1	0	0	0	6367	855	30	3	237	3	GH1	17	61995152	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	5409314	61995152	19200058	53	612											
ICAM2	3384	broad.mit.edu	37	17	62080238	62080238	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:62080238C>A	uc002jdu.4	-	3	929	c.697G>T	c.(697-699)Gtg>Ttg	p.V233L	C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Missense_Mutation_p.V233L|ICAM2_uc010ded.3_Missense_Mutation_p.V233L|ICAM2_uc002jdx.4_Missense_Mutation_p.V233L|ICAM2_uc002jdv.4_Missense_Mutation_p.V233L	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	233					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GACAGCAACACCGACACCACC	0.612													A	62080238	C	A	62080238	3	1	9	1	0	0	0	0	1	0	0	0	7480	507	18	5	134	5	ICAM2	17	62080238	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	85086	62080238	19114972	54	613											
FADS6	283985	broad.mit.edu	37	17	72878745	72878745	+	Silent	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:72878745C>T	uc002jmd.1	-	2	465	c.453G>A	c.(451-453)acG>acA	p.T151T	FADS6_uc010wrn.1_Missense_Mutation_p.R68H	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	157					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCCTCCACGTGCTGGAGT	0.602													T	72878745	C	T	72878745	2	4	9	1	0	0	0	0	0	0	0	1	5368	523	19	1		1	FADS6	17	72878745	Silent	SNP	C	TCGA-06-0119-01A-08D-1490-08	10798507	72878745	8316465	55	614											
SLC26A11	284129	broad.mit.edu	37	17	78195495	78195495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:78195495C>T	uc002jyb.2	+	2	442	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Nonsense_Mutation_p.Q46*|SLC26A11_uc002jyd.2_Nonsense_Mutation_p.Q46*|SLC26A11_uc010dhv.2_Nonsense_Mutation_p.Q46*	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	46						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTACTCCCTGCAGTGGCTGAA	0.687													T	78195495	C	T	78195495	4	4	9	1	0	0	0	0	0	1	0	0	14516	711	25	3	138	3	SLC26A11	17	78195495	Nonsense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	5316750	78195495	2999715	56	615											
REXO1	57455	broad.mit.edu	37	19	1828079	1828079	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:1828079G>A	uc002lua.4	-	1	804	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F	REXO1_uc010dsr.1_Missense_Mutation_p.L191F	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	237						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TAGTTGGAGAGAGGGTCATAC	0.701													A	1828079	G	A	1828079	3	1	9	1	0	0	0	0	1	0	0	0	13241	942	33	3	3016	3	REXO1	19	1828079	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		1828079	57300904	57	616											
ANO8	57719	broad.mit.edu	37	19	17436028	17436028	+	Silent	SNP	G	G	A	rs144454643		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:17436028G>A	uc002ngf.2	-	16	2988	c.2829C>T	c.(2827-2829)tcC>tcT	p.S943S	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	943						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AGGCCTTCTCGGAGGAGGTGG	0.692													A	17436028	G	A	17436028	2	1	9	1	0	0	0	0	0	0	0	1	703	1103	39	2		2	ANO8	19	17436028	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	15607949	17436028	41692955	58	617											
CEACAM21	90273	broad.mit.edu	37	19	42083911	42083911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:42083911G>A	uc002ore.4	+	2	520	c.424_splice	c.e2+1	p.E142_splice	CEACAM21_uc002orc.1_Splice_Site|CEACAM21_uc002orf.2_Splice_Site|CEACAM21_uc002org.4_Splice_Site_p.E142_splice	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	142						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCGTGTATACGGTGAGTGATT	0.522													A	42083911	G	A	42083911	3	1	9	1	0	0	0	0	1	0	0	0	3192	1130	39	2	430	2	CEACAM21	19	42083911	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	24647883	42083911	17045072	59	618											
NTF4	4909	broad.mit.edu	37	19	49564974	49564974	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:49564974A>C	uc002pmf.4	-	1	417	c.281T>G	c.(280-282)cTg>cGg	p.L94R	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.L94R	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	94					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCACACAGCCAGCTCACCCCG	0.692													C	49564974	A	C	49564974	3	2	9	1	0	0	0	0	1	0	0	0	10697	188	7	5	355	5	NTF4	19	49564974	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	7481063	49564974	9564009	60	619											
KLK6	5653	broad.mit.edu	37	19	51466671	51466671	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:51466671C>T	uc002puh.3	-	2	424	c.359G>A	c.(358-360)cGc>cAc	p.R120H	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R111H|KLK6_uc002puj.3_Missense_Mutation_p.R4H|KLK6_uc010ycn.2_Missense_Mutation_p.R4H|KLK6_uc002pul.3_Missense_Mutation_p.R111H|KLK6_uc002pum.3_Missense_Mutation_p.R4H	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	111	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCGTGCCAGGCGCAACAGCAT	0.617													T	51466671	C	T	51466671	3	4	9	1	0	0	0	0	1	0	0	0	8408	768	27	1	414	1	KLK6	19	51466671	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	1901697	51466671	7662312	61	620											
ZSCAN22	342945	broad.mit.edu	37	19	58850588	58850588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:58850588C>T	uc002qsc.2	+	2	1519	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	458					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCAGAGGATCCACACGGGAGA	0.542													T	58850588	C	T	58850588	3	4	9	1	0	0	0	0	1	0	0	0	18231	594	21	3	1378	3	ZSCAN22	19	58850588	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	7383917	58850588	278395	62	621											
SLC35C2	51006	broad.mit.edu	37	20	44979115	44979115	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr20:44979115A>G	uc010zxp.2	-	10	1196	c.1103T>C	c.(1102-1104)cTg>cCg	p.L368P	SLC35C2_uc002xro.3_Missense_Mutation_p.L339P|SLC35C2_uc002xrp.3_Missense_Mutation_p.L318P|SLC35C2_uc002xrq.3_Missense_Mutation_p.L339P|SLC35C2_uc002xrr.3_Missense_Mutation_p.L339P|SLC35C2_uc010zxn.2_Missense_Mutation_p.L204P|SLC35C2_uc010zxo.2_Missense_Mutation_p.L225P	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	339					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCAGGTCGGGGCT	0.617													G	44979115	A	G	44979115	3	3	9	1	0	0	0	0	1	0	0	0	14580	188	7	4	85	4	SLC35C2	20	44979115	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08		44979115	18046405	63	622											
PTGIS	5740	broad.mit.edu	37	20	48129691	48129691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr20:48129691G>A	uc002xut.3	-	7	1186	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	PTGIS_uc010zyi.2_Nonsense_Mutation_p.R239*	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	378					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TCACCACGTCGCAGGTTGAAT	0.612													A	48129691	G	A	48129691	4	1	9	1	0	0	0	0	0	1	0	0	12752	1095	38	1	382	1	PTGIS	20	48129691	Nonsense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	3150576	48129691	14895829	64	623											
PKDREJ	10343	broad.mit.edu	37	22	46657006	46657006	+	Silent	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr22:46657006G>A	uc003bhh.3	-	0	2214	c.2214C>T	c.(2212-2214)atC>atT	p.I738I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	738	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAGACTGATCGATGAGGTGTT	0.408													A	46657006	G	A	46657006	2	1	9	1	0	0	0	0	0	0	0	1	11970	1048	37	2		2	PKDREJ	22	46657006	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08		46657006	4647560	65	624											
ARSE	415	broad.mit.edu	37	X	2867744	2867744	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:2867744C>G	uc011mhh.2	-	6	991	c.530G>C	c.(529-531)tGt>tCt	p.C177S	ARSE_uc011mhi.2_Missense_Mutation_p.C98S|ARSE_uc004crc.4_Missense_Mutation_p.C152S			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	152					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	p.S176F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				GGCTGACTCACAGTTGAGACC	0.483													G	2867744	C	G	2867744	3	3	9	1	0	0	0	0	1	0	0	0	990	478	17	5	1338	5	ARSE	23	2867744	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		2867744	152402816	66	625											
MXRA5	25878	broad.mit.edu	37	X	3235366	3235366	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:3235366C>T	uc004crg.4	-	5	6513	c.6356G>A	c.(6355-6357)cGc>cAc	p.R2119H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2119	Ig-like C2-type 5.					extracellular region				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)				GCACTCATAGCGCCCGCTGTC	0.662													T	3235366	C	T	3235366	3	4	9	1	0	0	0	0	1	0	0	0	10003	768	27	1	2138	1	MXRA5	23	3235366	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	367622	3235366	152035194	67	626											
MAGEB1	4112	broad.mit.edu	37	X	30269233	30269233	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:30269233T>C	uc022buh.1	+	0	623	c.623T>C	c.(622-624)aTc>aCc	p.I208T	MAGEB1_uc004dcc.3_Missense_Mutation_p.I208T|MAGEB1_uc004dcd.3_Missense_Mutation_p.I208T|MAGEB1_uc004dce.3_Missense_Mutation_p.I208T	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	208	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTGGGTGTGATCTTCTTAAAG	0.488													C	30269233	T	C	30269233	3	2	9	1	0	0	0	0	1	0	0	0	9172	1435	50	4	625	4	MAGEB1	23	30269233	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	27033867	30269233	125001327	68	627											
FAM47A	158724	broad.mit.edu	37	X	34148878	34148878	+	Silent	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:34148878C>T	uc004ddg.3	-	0	1570	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	506			Missing.					p.R505H(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGAGCGGAGAC	0.652													T	34148878	C	T	34148878	2	4	9	1	0	0	0	0	0	0	0	1	5569	639	23	2		2	FAM47A	23	34148878	Silent	SNP	C	TCGA-06-0119-01A-08D-1490-08	3879645	34148878	121121682	69	628											
PHF16	9767	broad.mit.edu	37	X	46884151	46884151	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:46884151G>A	uc004dgx.3	+	4	361	c.310G>A	c.(310-312)Gtt>Att	p.V104I	PHF16_uc004dgy.3_Missense_Mutation_p.V104I	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	104					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGTAAAGGACGTTCTGTTTAT	0.448													A	46884151	G	A	46884151	3	1	9	1	0	0	0	0	1	0	0	0	11827	1145	40	1	324	1	PHF16	23	46884151	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	12735273	46884151	108386409	70	629											
RBM10	8241	broad.mit.edu	37	X	47041361	47041361	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:47041361G>A	uc004dhi.3	+	15	2129	c.1900G>A	c.(1900-1902)Gtc>Atc	p.V634I	RBM10_uc004dhf.3_Missense_Mutation_p.V569I|RBM10_uc004dhh.3_Missense_Mutation_p.V568I|RBM10_uc010nhq.3_Missense_Mutation_p.V492I|RBM10_uc004dhg.3_Missense_Mutation_p.V491I	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	569					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTTCCCGACGTCTCTACCTA	0.577													A	47041361	G	A	47041361	3	1	9	1	0	0	0	0	1	0	0	0	13111	1145	40	1	1763	1	RBM10	23	47041361	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	157210	47041361	108229199	71	630											
ARL13A	392509	broad.mit.edu	37	X	100240808	100240808	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:100240808G>A	uc004ego.3	+	3	399	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	ARL13A_uc011mrf.2_Missense_Mutation_p.V95I|ARL13A_uc010nng.3_Missense_Mutation_p.V95I	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA.	95							GTP binding			endometrium(1)|ovary(1)	2						GCTTGTTTTCGTCCTGGATTC	0.468													A	100240808	G	A	100240808	3	1	9	1	0	0	0	0	1	0	0	0	928	1145	40	1	293	1	ARL13A	23	100240808	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	53199447	100240808	55029752	72	631											
HNRNPH2	3188	broad.mit.edu	37	X	100667805	100667805	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:100667805G>A	uc022cai.1	+	0	829	c.829G>A	c.(829-831)Gga>Aga	p.G277R	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Missense_Mutation_p.G277R|HNRNPH2_uc004ehn.3_Missense_Mutation_p.G277R	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	277	2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TCATAGATACGGAGATGGTGG	0.428													A	100667805	G	A	100667805	3	1	9	1	0	0	0	0	1	0	0	0	7267	1117	39	2	831	2	HNRNPH2	23	100667805	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	426997	100667805	54602755	73	632											
SLC6A14	11254	broad.mit.edu	37	X	115586616	115586616	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:115586616C>T	uc004eqi.3	+	11	1729	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	533					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T533M(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTTGTAATTACGCCTATCCTT	0.348													T	115586616	C	T	115586616	3	4	9	1	0	0	0	0	1	0	0	0	14677	536	19	1	1644	1	SLC6A14	23	115586616	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	14918811	115586616	39683944	74	633											
RHOXF1	158800	broad.mit.edu	37	X	119249400	119249400	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:119249400T>A	uc004esk.1	-	0	448	c.373A>T	c.(373-375)Act>Tct	p.T125S	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	125					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GGGTATTGAGTGTGTCGGAAA	0.577													A	119249400	T	A	119249400	3	1	9	1	0	0	0	0	1	0	0	0	13347	1696	59	5	193	5	RHOXF1	23	119249400	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	3662784	119249400	36021160	75	634											
IRAK1	3654	broad.mit.edu	37	X	153283486	153283486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:153283486C>T	uc004fjs.1	-	6	959	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	IRAK1_uc004fjr.1_Missense_Mutation_p.G294S|IRAK1_uc004fjt.1_Missense_Mutation_p.G294S|IRAK1_uc004fju.2_Missense_Mutation_p.G320S	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	294	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGGAGCCGTTGGGCAGG	0.612													T	153283486	C	T	153283486	3	4	9	1	0	0	0	0	1	0	0	0	7821	652	23	2	1290	2	IRAK1	23	153283486	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	34034086	153283486	1987074	76	635											
MTOR	2475	broad.mit.edu	37	1	11174395	11174395	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:11174395A>T	uc001asd.3	-	52	7401	c.7280T>A	c.(7279-7281)cTg>cAg	p.L2427Q	MTOR_uc001asc.3_Missense_Mutation_p.L632Q	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2427	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCTCCAGTTCAGCAAGGGGTC	0.537													T	11174395	A	T	11174395	3	4	10	1	0	0	0	0	1	0	0	0	9954	188	7	5	393	5	MTOR	1	11174395	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08		11174395	238076226	1	636											
UBR4	23352	broad.mit.edu	37	1	19492180	19492180	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:19492180C>T	uc001bbi.3	-	29	4185	c.4181G>A	c.(4180-4182)cGt>cAt	p.R1394H	UBR4_uc001bbm.1_Missense_Mutation_p.R605H	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1394			R -> H (in a breast cancer sample; somatic mutation).		interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R1394H(4)|p.R1394C(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATAGCTTTACGAGCCTGGCT	0.433													T	19492180	C	T	19492180	3	4	10	1	0	0	0	0	1	0	0	0	16901	536	19	1	11678	1	UBR4	1	19492180	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	8317785	19492180	229758441	2	637											
EYA3	2140	broad.mit.edu	37	1	28362074	28362074	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:28362074C>T	uc001bpi.2	-	5	524	c.342G>A	c.(340-342)acG>acA	p.T114T	EYA3_uc010ofs.2_Silent_p.T61T|EYA3_uc010oft.2_Silent_p.T114T|EYA3_uc001bpj.3_Silent_p.T114T|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Non-coding_Transcript	NM_001990	NP_001981	Q99504	EYA3_HUMAN	Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA.	114					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GTAGTCCATACGTTTGGGTTG	0.428													T	28362074	C	T	28362074	2	4	10	1	0	0	0	0	0	0	0	1	5330	523	19	1		1	EYA3	1	28362074	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	8869894	28362074	220888547	3	638											
ZSCAN20	7579	broad.mit.edu	37	1	33960310	33960310	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:33960310C>T	uc001bxj.4	+	7	2533	c.2366C>T	c.(2365-2367)aCg>aTg	p.T789M	ZSCAN20_uc009vui.3_Missense_Mutation_p.T788M	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	789					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAATTCACACGGGGGAAAAG	0.438													T	33960310	C	T	33960310	3	4	10	1	0	0	0	0	1	0	0	0	18229	536	19	1	2392	1	ZSCAN20	1	33960310	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	5598236	33960310	215290311	4	639											
EPHA10	284656	broad.mit.edu	37	1	38227491	38227491	+	Missense_Mutation	SNP	C	C	T	rs146430998		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:38227491C>T	uc009vvi.3	-	2	522	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	EPHA10_uc001cbw.4_Missense_Mutation_p.G146S	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	146						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCGGCTGCCGCCTAGGCGG	0.662													T	38227491	C	T	38227491	3	4	10	1	0	0	0	0	1	0	0	0	5166	652	23	2	2688	2	EPHA10	1	38227491	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	4267181	38227491	211023130	5	640											
SGIP1	84251	broad.mit.edu	37	1	67194966	67194966	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:67194966G>A	uc001dcr.3	+	19	1979	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	SGIP1_uc010opd.2_Missense_Mutation_p.G188R|SGIP1_uc001dcs.3_Missense_Mutation_p.G188R|SGIP1_uc001dct.3_Missense_Mutation_p.G190R|SGIP1_uc009wat.3_Missense_Mutation_p.G382R|SGIP1_uc001dcu.3_Missense_Mutation_p.G93R	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	588					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAAGATTACCGGAGAAATGGT	0.423													A	67194966	G	A	67194966	3	1	10	1	0	0	0	0	1	0	0	0	14206	1117	39	2	1840	2	SGIP1	1	67194966	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	28967475	67194966	182055655	6	641											
SPAG17	200162	broad.mit.edu	37	1	118548038	118548038	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:118548038T>G	uc001ehk.2	-	32	4844	c.4776_splice	c.e32+1	p.Q1592_splice	SPAG17_uc021osr.1_Splice_Site_p.Q102_splice	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1592						cilium|flagellar axoneme|microtubule				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)		GCACTTTACCTGAAAAGTGTT	0.448													G	118548038	T	G	118548038	3	3	10	1	0	0	0	0	1	0	0	0	14979	1594	55	5	1964	5	SPAG17	1	118548038	Missense_Mutation	SNP	T	TCGA-06-0122-01A-01D-1490-08	51353072	118548038	130702583	7	642											
APH1A	51107	broad.mit.edu	37	1	150239482	150239482	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:150239482G>A	uc001ety.2	-	4	1001	c.602C>T	c.(601-603)tCg>tTg	p.S201L	APH1A_uc001etz.2_Missense_Mutation_p.S201L|APH1A_uc010pbx.2_Missense_Mutation_p.S131L|APH1A_uc010pby.2_Missense_Mutation_p.S144L|APH1A_uc010pbz.2_Missense_Mutation_p.S85L	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.	201					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-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)			CACCAGTCCCGATGTCAGTAG	0.507													A	150239482	G	A	150239482	3	1	10	1	0	0	0	0	1	0	0	0	771	1059	37	2	218	2	APH1A	1	150239482	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	31691444	150239482	99011139	8	643											
FLG2	388698	broad.mit.edu	37	1	152325713	152325713	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:152325713G>A	uc001ezw.4	-	2	4622	c.4549C>T	c.(4549-4551)Cat>Tat	p.H1517Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1517							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAATGTGTGTGCGAG	0.498													A	152325713	G	A	152325713	3	1	10	1	0	0	0	0	1	0	0	0	5923	1377	48	3	2630	3	FLG2	1	152325713	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	2086231	152325713	96924908	9	644											
PPOX	5498	broad.mit.edu	37	1	161138221	161138221	+	Splice_Site	SNP	G	G	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:161138221G>T	uc001fyj.2	+	6	762	c.472_splice	c.e6-1	p.V158_splice	PPOX_uc001fyg.2_Splice_Site_p.V158_splice|PPOX_uc010pkg.1_5'UTR|PPOX_uc001fyi.2_5'UTR|PPOX_uc010pkh.1_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	158					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCACCCTTAAGGTGGCGTCTC	0.522													T	161138221	G	T	161138221	5	4	10	1	0	0	0	0	0	0	1	0	12348	1014	35	5	489	5	PPOX	1	161138221	Splice_Site	SNP	G	TCGA-06-0122-01A-01D-1490-08	8812508	161138221	88112400	10	645											
HMCN1	83872	broad.mit.edu	37	1	186092143	186092143	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:186092143C>T	uc001grq.1	+	80	12519	c.12290C>T	c.(12289-12291)aCg>aTg	p.T4097M	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4097	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.T4097M(2)		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						AAGCCCATCACGTTATCCTGT	0.433													T	186092143	C	T	186092143	3	4	10	1	0	0	0	0	1	0	0	0	7220	536	19	1	12612	1	HMCN1	1	186092143	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	24953922	186092143	63158478	11	646											
RYR2	6262	broad.mit.edu	37	1	237811774	237811774	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:237811774C>T	uc001hyl.1	+	48	7493	c.7373C>T	c.(7372-7374)gCg>gTg	p.A2458V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	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.G2457E(2)|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	0.458													T	237811774	C	T	237811774	3	4	10	1	0	0	0	0	1	0	0	0	13769	768	27	1	7567	1	RYR2	1	237811774	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	51719631	237811774	11438847	12	647											
PRKD3	23683	broad.mit.edu	37	2	37516578	37516578	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:37516578G>C	uc002rqd.3	-	3	1193	c.638C>G	c.(637-639)tCa>tGa	p.S213*	PRKD3_uc002rqf.1_Nonsense_Mutation_p.S213*	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	213					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			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)				AGATACATTTGACAGACGTCT	0.413													C	37516578	G	C	37516578	4	2	10	1	0	0	0	0	0	1	0	0	12520	1294	45	5	2094	5	PRKD3	2	37516578	Nonsense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		37516578	205682795	13	648											
PCDP1	200373	broad.mit.edu	37	2	120369295	120369295	+	Missense_Mutation	SNP	C	C	T	rs149304410		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:120369295C>T	uc002tmb.3	+	13	1542	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PCDP1_uc010yyq.2_Missense_Mutation_p.R274W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	430						cilium	calmodulin binding					Colorectal(110;0.196)					TAGCCATAAACGGGTTGTTCG	0.333													T	120369295	C	T	120369295	3	4	10	1	0	0	0	0	1	0	0	0	11572	527	19	1	448	1	PCDP1	2	120369295	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	82852717	120369295	122830078	14	649											
LRP1B	53353	broad.mit.edu	37	2	141072506	141072506	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:141072506A>G	uc002tvj.1	-	82	13775	c.12803T>C	c.(12802-12804)cTa>cCa	p.L4268P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4268	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4268I(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)		ATATTTACCTAGAACTGATGG	0.353										TSP Lung(27;0.18)			G	141072506	A	G	141072506	3	3	10	1	0	0	0	0	1	0	0	0	8955	420	15	4	1032	4	LRP1B	2	141072506	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	20703211	141072506	102126867	15	650											
COBLL1	22837	broad.mit.edu	37	2	165578701	165578701	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:165578701G>A	uc002ucp.3	-	5	1102	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	COBLL1_uc002ucq.3_Missense_Mutation_p.R294W|COBLL1_uc010zcw.2_Missense_Mutation_p.R360W|COBLL1_uc010zcx.2_Missense_Mutation_p.R340W|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.R63W	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	332								p.R294L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGTGGAGCCCGCCTCTTCTTG	0.522													A	165578701	G	A	165578701	3	1	10	1	0	0	0	0	1	0	0	0	3654	1086	38	1	2656	1	COBLL1	2	165578701	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	24506195	165578701	77620672	16	651											
SCN1A	6323	broad.mit.edu	37	2	166850847	166850847	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:166850847T>C	uc002udo.4	-	26	4888	c.4661A>G	c.(4660-4662)aAc>aGc	p.N1554S	SCN1A_uc010fpk.3_Missense_Mutation_p.N1526S|SCN1A_uc021vsb.1_Missense_Mutation_p.N1543S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1554						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTGACCATGTTAAGACAGAT	0.378													C	166850847	T	C	166850847	3	2	10	1	0	0	0	0	1	0	0	0	13914	1725	60	4	1376	4	SCN1A	2	166850847	Missense_Mutation	SNP	T	TCGA-06-0122-01A-01D-1490-08	1272146	166850847	76348526	17	652											
TTN	7273	broad.mit.edu	37	2	179476875	179476875	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179476875G>C	uc021vsy.1	-	215	42784	c.42559C>G	c.(42559-42561)Ccc>Gcc	p.P14187A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P7882A|TTN_uc021vta.1_Missense_Mutation_p.P7815A|TTN_uc021vtb.1_Missense_Mutation_p.P7690A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15114	Fibronectin type-III 2.						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)			AGGGCGTAGGGTGGTCCAGGA	0.418													C	179476875	G	C	179476875	3	2	10	1	0	0	0	0	1	0	0	0	16732	1261	44	5	57814	5	TTN	2	179476875	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	12626028	179476875	63722498	18	653											
TTN	7273	broad.mit.edu	37	2	179597777	179597777	+	Silent	SNP	G	G	A	rs72648936		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179597777G>A	uc021vsy.1	-	51	12619	c.12394C>T	c.(12394-12396)Ctg>Ttg	p.L4132L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L793L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5059							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R4131I(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)			TTGCAGTCCAGTCTGCAGGTA	0.468													A	179597777	G	A	179597777	2	1	10	1	0	0	0	0	0	0	0	1	16732	1020	36	3		3	TTN	2	179597777	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	120902	179597777	63601596	19	654											
TTN	7273	broad.mit.edu	37	2	179599243	179599243	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179599243G>A	uc021vsy.1	-	48	11801	c.11576C>T	c.(11575-11577)cCa>cTa	p.P3859L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P520L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4786							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)			AATTTCAAATGGTCCAGTGCC	0.393													A	179599243	G	A	179599243	3	1	10	1	0	0	0	0	1	0	0	0	16732	1348	47	3	89465	3	TTN	2	179599243	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	1466	179599243	63600130	20	655											
IHH	3549	broad.mit.edu	37	2	219920562	219920562	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:219920562G>A	uc002vjo.2	-	2	652	c.603C>T	c.(601-603)ggC>ggT	p.G201G		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	201					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGCAGCCGCCCGTCTTGG	0.672													A	219920562	G	A	219920562	2	1	10	1	0	0	0	0	0	0	0	1	7607	1074	38	1		1	IHH	2	219920562	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	40321319	219920562	23278811	21	656											
GIGYF2	26058	broad.mit.edu	37	2	233710565	233710565	+	Silent	SNP	T	T	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:233710565T>C	uc002vtj.4	+	27	3759	c.3492T>C	c.(3490-3492)ctT>ctC	p.L1164L	GIGYF2_uc002vti.4_Silent_p.L1143L|GIGYF2_uc002vtk.4_Silent_p.L1143L|GIGYF2_uc002vth.4_Silent_p.L1137L|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc002vtq.4_Silent_p.L476L	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1143					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AACAGATGCTTCATGCCCTTA	0.453													C	233710565	T	C	233710565	2	2	10	1	0	0	0	0	0	0	0	1	6378	1770	62	4		4	GIGYF2	2	233710565	Silent	SNP	T	TCGA-06-0122-01A-01D-1490-08	13790003	233710565	9488808	22	657											
UGT1A1	54578	broad.mit.edu	37	2	234602272	234602272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:234602272C>T	uc002vuv.4	+	0	761	c.622C>T	c.(622-624)Cga>Tga	p.R208*	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Nonsense_Mutation_p.R208*	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	209					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTTTCCCAACGAGTGGCCAA	0.448													T	234602272	C	T	234602272	4	4	10	1	0	0	0	0	0	1	0	0	16941	528	19	1		1	UGT1A1	2	234602272	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	891707	234602272	8597101	23	658											
OR5K3	403277	broad.mit.edu	37	3	98109856	98109856	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr3:98109856C>T	uc011bgw.2	+	0	347	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTTCTTCTGGCGGCAATGGCC	0.453													T	98109856	C	T	98109856	3	4	10	1	0	0	0	0	1	0	0	0	11168	768	27	1	349	1	OR5K3	3	98109856	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		98109856	99912574	24	659											
RTP1	132112	broad.mit.edu	37	3	186917654	186917654	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr3:186917654G>A	uc003frg.3	+	1	618	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	196					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCTGCCAGGAGGGCATCGTGC	0.692													A	186917654	G	A	186917654	2	1	10	1	0	0	0	0	0	0	0	1	13733	991	35	3		3	RTP1	3	186917654	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	88807798	186917654	11104776	25	660											
ADAMTS16	170690	broad.mit.edu	37	5	5262831	5262831	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:5262831C>A	uc003jdl.3	+	17	2862	c.2724C>A	c.(2722-2724)ttC>ttA	p.F908L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.F908L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	908	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						ATATGTCCTTCTGCAATCCCA	0.498													A	5262831	C	A	5262831	3	1	10	1	0	0	0	0	1	0	0	0	261	912	32	5	2794	5	ADAMTS16	5	5262831	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		5262831	175652429	26	661											
PAPD7	11044	broad.mit.edu	37	5	6737716	6737717	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:6737716_6737717delTG	uc003jdx.1	+	1	189_190	c.60_61delTG	c.(58-63)actgtgfs	p.T20fs	PAPD7_uc011cmn.2_Frame_Shift_Del_p.T20fs	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	20					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	p.E19K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGATCGAAACTGTGGTGAAAGA	0.436													-	6737717	TG	-	6737716	7	5	10	1	0	1	0	1	0	0	0	0	11426	1567	55	0	62	0	PAPD7	5	6737716	Frame_Shift_Del	DEL	TG	TCGA-06-0122-01A-01D-1490-08	1474885	6737716	174177544	27	662											
NIPBL	25836	broad.mit.edu	37	5	37051937	37051937	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:37051937delG	uc003jkl.4	+	40	7510	c.7011delG	c.(7009-7011)aagfs	p.K2337fs	NIPBL_uc003jkk.4_Frame_Shift_Del_p.K2337fs|NIPBL_uc003jkn.3_Frame_Shift_Del_p.K30fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2337					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCGGAACAAGGCTGATCAGC	0.318													-	37051937	G	-	37051937	7	5	10	1	0	1	0	1	0	0	0	0	10428	991	35	0	7169	0	NIPBL	5	37051937	Frame_Shift_Del	DEL	G	TCGA-06-0122-01A-01D-1490-08	30314221	37051937	143863323	28	663											
HCN1	348980	broad.mit.edu	37	5	45462085	45462085	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:45462085C>G	uc003jok.3	-	2	899	c.874G>C	c.(874-876)Gcc>Ccc	p.A292P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	292						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A292A(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACTGCACTGGCGAGATCATAT	0.378													G	45462085	C	G	45462085	3	3	10	1	0	0	0	0	1	0	0	0	6996	768	27	5	1822	5	HCN1	5	45462085	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	8410148	45462085	135453175	29	664											
PCDHB4	56131	broad.mit.edu	37	5	140502131	140502131	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:140502131A>T	uc003lip.1	+	0	551	c.551A>T	c.(550-552)cAt>cTt	p.H184L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	184	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			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)			ACTCGAAATCATAGTGAGGGC	0.478													T	140502131	A	T	140502131	3	4	10	1	0	0	0	0	1	0	0	0	11544	217	8	5	553	5	PCDHB4	5	140502131	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	95040046	140502131	40413129	30	665											
EZR	7430	broad.mit.edu	37	6	159206603	159206603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr6:159206603C>A	uc003qrt.4	-	3	420	c.205G>T	c.(205-207)Gag>Tag	p.E69*	EZR_uc011efs.2_Nonsense_Mutation_p.E37*|EZR_uc003qru.4_Nonsense_Mutation_p.E69*	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	69	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCCTGACCTCCTGGGCAGAC	0.537			T	ROS1	NSCLC								A	159206603	C	A	159206603	4	1	10	1	0	0	0	0	0	1	0	0	5335	864	30	5	1595	5	EZR	6	159206603	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		159206603	11908464	31	666											
VOPP1	81552	broad.mit.edu	37	7	55588786	55588786	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:55588786C>T	uc003tqs.3	-	1	275	c.92G>A	c.(91-93)gGa>gAa	p.G31E	VOPP1_uc003tqq.3_Missense_Mutation_p.G22E|VOPP1_uc010kzh.3_Missense_Mutation_p.G28E|VOPP1_uc010kzi.3_Missense_Mutation_p.G14E|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						TGGATAGAGTCCTTCGAAATA	0.408													T	55588786	C	T	55588786	3	4	10	1	0	0	0	0	1	0	0	0	17181	855	30	3	442	3	VOPP1	7	55588786	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		55588786	103549877	32	667											
PCLO	27445	broad.mit.edu	37	7	82390725	82390725	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:82390725A>G	uc003uhx.2	-	22	15381	c.15092T>C	c.(15091-15093)cTc>cCc	p.L5031P		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4954	C2 2.				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						TCTGCATTGGAGAATTTCAAC	0.308													G	82390725	A	G	82390725	3	3	10	1	0	0	0	0	1	0	0	0	11583	304	11	4	348	4	PCLO	7	82390725	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	26801939	82390725	76747938	33	668											
PCLO	27445	broad.mit.edu	37	7	82586181	82586181	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:82586181G>A	uc003uhx.2	-	4	4377	c.4088C>T	c.(4087-4089)aCg>aTg	p.T1363M	PCLO_uc003uhv.2_Missense_Mutation_p.T1363M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1294					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T1363M(3)|p.T1294M(1)		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						AGAATATCCCGTGTCGCTCAG	0.428													A	82586181	G	A	82586181	3	1	10	1	0	0	0	0	1	0	0	0	11583	1145	40	1	11441	1	PCLO	7	82586181	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	195456	82586181	76552482	34	669											
TFEC	22797	broad.mit.edu	37	7	115614228	115614228	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:115614228C>T	uc003vhj.2	-	2	516	c.263G>A	c.(262-264)aGa>aAa	p.R88K	TFEC_uc003vhk.2_Intron|TFEC_uc003vhl.4_Intron|TFEC_uc011kmw.2_Missense_Mutation_p.R178K	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	88	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTTACTGTTCTTTGCATTAG	0.358													T	115614228	C	T	115614228	3	4	10	1	0	0	0	0	1	0	0	0	15799	913	32	3	804	3	TFEC	7	115614228	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	33028047	115614228	43524435	35	670											
CNTNAP2	26047	broad.mit.edu	37	7	147259316	147259316	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:147259316C>T	uc003weu.2	+	11	2380	c.1864C>T	c.(1864-1866)Ctg>Ttg	p.L622L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	622	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCGGACCTCTGGGGCCTCT	0.408										HNSCC(39;0.1)			T	147259316	C	T	147259316	2	4	10	1	0	0	0	0	0	0	0	1	3647	912	32	3		3	CNTNAP2	7	147259316	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	31645088	147259316	11879347	36	671											
DEFB135	613209	broad.mit.edu	37	8	11842018	11842018	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:11842018C>G	uc003wuw.1	+	1	153	c.153C>G	c.(151-153)aaC>aaG	p.N51K		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	Homo sapiens defensin, beta 135 (DEFB135), mRNA.	51					defense response to bacterium	extracellular region				endometrium(1)|large_intestine(2)|prostate(1)	4						GTCTAAAAAACGAACAATATC	0.383													G	11842018	C	G	11842018	3	3	10	1	0	0	0	0	1	0	0	0	4419	535	19	5	159	5	DEFB135	8	11842018	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		11842018	134522004	37	672											
SLCO5A1	81796	broad.mit.edu	37	8	70667821	70667821	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:70667821A>T	uc003xyl.3	-	3	1803	c.1096T>A	c.(1096-1098)Ttt>Att	p.F366I	SLCO5A1_uc010lzb.3_Missense_Mutation_p.F366I|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.F366I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.F366I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	366						integral to membrane|plasma membrane	transporter activity			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)			GGGAAAGTAAACATTGGGAAT	0.353													T	70667821	A	T	70667821	3	4	10	1	0	0	0	0	1	0	0	0	14731	43	2	5	1478	5	SLCO5A1	8	70667821	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	58825803	70667821	75696201	38	673											
KCNB2	9312	broad.mit.edu	37	8	73848476	73848476	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:73848476G>A	uc003xzb.3	+	2	1474	c.886G>A	c.(886-888)Gtg>Atg	p.V296M		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	296					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V296L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GTTCCAAAACGTGAGGCGCGT	0.527													A	73848476	G	A	73848476	3	1	10	1	0	0	0	0	1	0	0	0	8013	1145	40	1	892	1	KCNB2	8	73848476	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	3180655	73848476	72515546	39	674											
COL22A1	169044	broad.mit.edu	37	8	139890128	139890128	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:139890128C>T	uc003yvd.3	-	2	970	c.523G>A	c.(523-525)Gtg>Atg	p.V175M		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	175	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.V175M(2)		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)			CCCACGCCCACGGCAAAGATG	0.667										HNSCC(7;0.00092)			T	139890128	C	T	139890128	3	4	10	1	0	0	0	0	1	0	0	0	3681	536	19	1	4609	1	COL22A1	8	139890128	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	66041652	139890128	6473894	40	675											
GPR123	84435	broad.mit.edu	37	10	134886514	134886514	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr10:134886514C>T	uc001llw.3	+	2	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0			A -> S (in dbSNP:rs34915504).			integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ATTTTTACCTCCGTCTTGCAA	0.562													T	134886514	C	T	134886514	3	4	10	1	0	0	0	0	1	0	0	0	6637	870	30	3		3	GPR123	10	134886514	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		134886514	648233	41	676											
OR56A4	120793	broad.mit.edu	37	11	6023920	6023920	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:6023920G>A	uc010qzv.2	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTGGAGGAAGCAGGCTG	0.532													A	6023920	G	A	6023920	2	1	10	1	0	0	0	0	0	0	0	1	11135	1165	41	3		3	OR56A4	11	6023920	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08		6023920	128982596	42	677											
TRIM3	10612	broad.mit.edu	37	11	6470286	6470286	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:6470286C>T	uc001mdh.3	-	12	2603	c.2207G>A	c.(2206-2208)tGc>tAc	p.C736Y	TRIM3_uc001mdi.3_Missense_Mutation_p.C736Y|TRIM3_uc010raj.2_Missense_Mutation_p.C617Y|TRIM3_uc009yfd.3_Missense_Mutation_p.C736Y	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	736					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.C736Y(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTTAAAGCAGTGGTTGCC	0.562													T	6470286	C	T	6470286	3	4	10	1	0	0	0	0	1	0	0	0	16501	710	25	3	31	3	TRIM3	11	6470286	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	446366	6470286	128536230	43	678											
ANO5	203859	broad.mit.edu	37	11	22291917	22291917	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:22291917G>T	uc001mqi.2	+	17	2275	c.1958G>T	c.(1957-1959)aGt>aTt	p.S653I	ANO5_uc001mqj.2_Missense_Mutation_p.S652I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	653						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGCTGTATAGTCGATGGGAG	0.398													T	22291917	G	T	22291917	3	4	10	1	0	0	0	0	1	0	0	0	700	1029	36	5	2028	5	ANO5	11	22291917	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	15821631	22291917	112714599	44	679											
GAS2	2620	broad.mit.edu	37	11	22747846	22747846	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:22747846G>A	uc009yie.3	+	3	582	c.276G>A	c.(274-276)ccG>ccA	p.P92P	GAS2_uc001mqm.3_Silent_p.P92P|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Silent_p.P92P	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	92	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AGAATCTACCGTTGAAGAAGA	0.393													A	22747846	G	A	22747846	2	1	10	1	0	0	0	0	0	0	0	1	6245	1132	40	1		1	GAS2	11	22747846	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	455929	22747846	112258670	45	680											
RAG1	5896	broad.mit.edu	37	11	36596452	36596452	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:36596452C>T	uc021qgb.1	+	0	1598	c.1598C>T	c.(1597-1599)aCt>aTt	p.T533I	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.T533I	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	533					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCTTCCAGCACTGATGTTGGC	0.493									Familial Hemophagocytic Lymphohistiocytosis				T	36596452	C	T	36596452	3	4	10	1	0	0	0	0	1	0	0	0	13003	565	20	3	1600	3	RAG1	11	36596452	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	13848606	36596452	98410064	46	681											
OR4X1	390113	broad.mit.edu	37	11	48286015	48286015	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:48286015C>T	uc010rht.2	+	0	603	c.603C>T	c.(601-603)ggC>ggT	p.G201G		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCACCAATGGCGGCTCCATCT	0.557													T	48286015	C	T	48286015	2	4	10	1	0	0	0	0	0	0	0	1	11084	755	27	1		1	OR4X1	11	48286015	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	11689563	48286015	86720501	47	682											
OR5B17	219965	broad.mit.edu	37	11	58125932	58125932	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:58125932delT	uc010rke.2	-	0	611	c.611delA	c.(610-612)aatfs	p.N204fs		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAAAGACATTAAAACTTGA	0.368													-	58125932	T	-	58125932	7	5	10	1	0	1	0	1	0	0	0	0	11149	1493	52	0	335	0	OR5B17	11	58125932	Frame_Shift_Del	DEL	T	TCGA-06-0122-01A-01D-1490-08	9839917	58125932	76880584	48	683											
FADS3	3995	broad.mit.edu	37	11	61647583	61647583	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:61647583C>T	uc001nsm.3	-	1	407	c.254G>A	c.(253-255)cGc>cAc	p.R85H		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	85	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAGGAACTTGCGCACAAAATT	0.572													T	61647583	C	T	61647583	3	4	10	1	0	0	0	0	1	0	0	0	5367	768	27	1	1127	1	FADS3	11	61647583	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	3521651	61647583	73358933	49	684											
THRSP	7069	broad.mit.edu	37	11	77775138	77775138	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:77775138G>C	uc021qnu.1	+	0	211	c.211G>C	c.(211-213)Gac>Cac	p.D71H	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron|THRSP_uc001oyx.3_Missense_Mutation_p.D71H	NM_003251	NP_003242	Q92748	THRSP_HUMAN	Homo sapiens thyroid hormone responsive (THRSP), mRNA.	71					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			TGTGGATGTGGACCATGGGCT	0.642													C	77775138	G	C	77775138	3	2	10	1	0	0	0	0	1	0	0	0	15873	1174	41	5	213	5	THRSP	11	77775138	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	16127555	77775138	57231378	50	685											
PRCP	5547	broad.mit.edu	37	11	82571019	82571019	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:82571019C>T	uc001ozs.3	-	2	422	c.309_splice	c.e2+1	p.T103_splice	PRCP_uc001ozr.3_Splice_Site_p.T124_splice	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	103					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTGCACATACCGTGTTATTAC	0.348													T	82571019	C	T	82571019	2	4	10	1	0	0	0	0	0	0	0	1	12449	666	23	2		2	PRCP	11	82571019	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	4795881	82571019	52435497	51	686											
NFRKB	4798	broad.mit.edu	37	11	129751720	129751720	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:129751720G>C	uc001qfg.3	-	9	1416	c.1295C>G	c.(1294-1296)tCa>tGa	p.S432*	NFRKB_uc001qfi.3_Nonsense_Mutation_p.S407*|NFRKB_uc001qfh.3_Nonsense_Mutation_p.S430*|NFRKB_uc010sbw.1_Nonsense_Mutation_p.S419*	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	407					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGCTGGCGATGACTGCCAATC	0.557											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	129751720	G	C	129751720	4	2	10	1	0	0	0	0	0	1	0	0	10384	1294	45	5	2743	5	NFRKB	11	129751720	Nonsense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	47180701	129751720	5254796	52	687											
ESPL1	9700	broad.mit.edu	37	12	53684176	53684176	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:53684176G>A	uc001sck.2	+	23	5378	c.5287G>A	c.(5287-5289)Gca>Aca	p.A1763T	ESPL1_uc001scj.2_Missense_Mutation_p.A1438T	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1763					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATCCAGAAGGCACAGAAAGA	0.557													A	53684176	G	A	53684176	3	1	10	1	0	0	0	0	1	0	0	0	5253	1203	42	3	5377	3	ESPL1	12	53684176	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		53684176	80167719	53	688											
LRP1	4035	broad.mit.edu	37	12	57598195	57598195	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:57598195C>T	uc001snd.3	+	70	11420	c.10954C>T	c.(10954-10956)Cgg>Tgg	p.R3652W		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3652	LDL-receptor class A 29.				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.R3652W(2)		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)	GGCACCAGTGCGGACCTGCCC	0.622													T	57598195	C	T	57598195	3	4	10	1	0	0	0	0	1	0	0	0	8951	759	27	1	11236	1	LRP1	12	57598195	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	3914019	57598195	76253700	54	689											
ANO4	121601	broad.mit.edu	37	12	101336194	101336194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:101336194C>T	uc010svm.1	+	4	909	c.337C>T	c.(337-339)Cga>Tga	p.R113*	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Nonsense_Mutation_p.R78*|ANO4_uc001thx.2_Nonsense_Mutation_p.R113*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	113						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACTTTACTTTCGAGATGGAAA	0.388										HNSCC(74;0.22)			T	101336194	C	T	101336194	4	4	10	1	0	0	0	0	0	1	0	0	699	876	31	2	242	2	ANO4	12	101336194	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	43737999	101336194	32515701	55	690											
GCN1L1	10985	broad.mit.edu	37	12	120599821	120599821	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:120599821C>T	uc001txo.3	-	20	2218	c.2205G>A	c.(2203-2205)ccG>ccA	p.P735P		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	735					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACCCGGTCCGGCGACAGGA	0.617													T	120599821	C	T	120599821	2	4	10	1	0	0	0	0	0	0	0	1	6299	639	23	2		2	GCN1L1	12	120599821	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	19263627	120599821	13252074	56	691											
POTEG	404785	broad.mit.edu	37	14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:19553823G>A	uc001vuz.1	+	0	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	136								p.R136H(2)|p.V135I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577													A	19553823	G	A	19553823	3	1	10	1	0	0	0	0	1	0	0	0	12266	1145	40	1	409	1	POTEG	14	19553823	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		19553823	87795717	57	692											
FOXA1	3169	broad.mit.edu	37	14	38061527	38061527	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:38061527G>A	uc001wuf.3	-	1	774	c.462C>T	c.(460-462)ggC>ggT	p.G154G	FOXA1_uc010tpz.2_Silent_p.G121G	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	154					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)		cgccgccgccgcccgcgcggc	0.706													A	38061527	G	A	38061527	2	1	10	1	0	0	0	0	0	0	0	1	5989	1074	38	1		1	FOXA1	14	38061527	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	18507704	38061527	69288013	58	693											
MDGA2	161357	broad.mit.edu	37	14	47426709	47426709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:47426709G>A	uc001wwj.4	-	8	2115	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	MDGA2_uc001wwi.4_Missense_Mutation_p.R355W|MDGA2_uc010ani.3_Missense_Mutation_p.R144W|SNORA25_uc021rsl.1_5'Flank	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	584					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGACCCGTCCGTAATAATTTA	0.443													A	47426709	G	A	47426709	3	1	10	1	0	0	0	0	1	0	0	0	9407	1144	40	1	1156	1	MDGA2	14	47426709	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	9365182	47426709	59922831	59	694											
BAHD1	22893	broad.mit.edu	37	15	40751616	40751616	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:40751616T>C	uc001zlu.2	+	1	1024	c.953T>C	c.(952-954)aTg>aCg	p.M318T	BAHD1_uc001zlt.2_Missense_Mutation_p.M318T|BAHD1_uc010bbp.1_Missense_Mutation_p.M318T|BAHD1_uc001zlv.2_Missense_Mutation_p.M318T	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	318	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCCTGCTGATGGGTGGACAG	0.652													C	40751616	T	C	40751616	3	2	10	1	0	0	0	0	1	0	0	0	1297	1464	51	4	955	4	BAHD1	15	40751616	Missense_Mutation	SNP	T	TCGA-06-0122-01A-01D-1490-08		40751616	61779776	60	695											
CYP19A1	1588	broad.mit.edu	37	15	51507426	51507426	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:51507426G>A	uc001zyz.4	-	8	1113	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	CYP19A1_uc001zza.4_Missense_Mutation_p.R288C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R288C	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	288					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	AGGTCACCACGTTTCTGAACA	0.403													A	51507426	G	A	51507426	3	1	10	1	0	0	0	0	1	0	0	0	4148	1145	40	1	661	1	CYP19A1	15	51507426	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	10755810	51507426	51023966	61	696											
CILP	8483	broad.mit.edu	37	15	65490345	65490345	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:65490345C>T	uc002aon.2	-	8	2460	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	760					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTCTCACTCCGGTAGGCCCT	0.547													T	65490345	C	T	65490345	3	4	10	1	0	0	0	0	1	0	0	0	3429	652	23	2	1279	2	CILP	15	65490345	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	13982919	65490345	37041047	62	697											
ANKRD11	29123	broad.mit.edu	37	16	89351279	89351279	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr16:89351279C>T	uc002fmx.1	-	8	2132	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	ANKRD11_uc002fmy.1_Silent_p.P557P|ANKRD11_uc002fnc.1_Silent_p.P557P|ANKRD11_uc002fnb.1_Silent_p.P514P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	557	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGACCAAGCCGGGGAAGAAA	0.562													T	89351279	C	T	89351279	2	4	10	1	0	0	0	0	0	0	0	1	639	639	23	2		2	ANKRD11	16	89351279	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08		89351279	1003474	63	698											
COX10	1352	broad.mit.edu	37	17	14110273	14110273	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:14110273C>T	uc002gof.4	+	6	1279	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	COX10_uc010vvs.2_Missense_Mutation_p.R142C|COX10_uc010vvt.2_Missense_Mutation_p.R167C	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	359					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CGTGGCGCTGCGCCACTGCCT	0.657													T	14110273	C	T	14110273	3	4	10	1	0	0	0	0	1	0	0	0	3762	768	27	1	1101	1	COX10	17	14110273	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		14110273	67084937	64	699											
SYNRG	11276	broad.mit.edu	37	17	35928904	35928904	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:35928904C>G	uc002hoa.3	-	10	1553	c.1470G>C	c.(1468-1470)caG>caC	p.Q490H	SYNRG_uc010wde.2_Missense_Mutation_p.Q412H|SYNRG_uc010wdf.2_Missense_Mutation_p.Q412H|SYNRG_uc002hoc.3_Missense_Mutation_p.Q411H|SYNRG_uc002hoe.3_Missense_Mutation_p.Q412H|SYNRG_uc002hod.3_Missense_Mutation_p.Q412H|SYNRG_uc010wdg.2_Missense_Mutation_p.Q329H|SYNRG_uc002hob.3_Missense_Mutation_p.Q490H|SYNRG_uc002hof.3_Missense_Mutation_p.Q202H|SYNRG_uc010cvd.1_Missense_Mutation_p.Q290H|SYNRG_uc002hog.1_Missense_Mutation_p.Q624H	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	490					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGTTTCCATGCTGGGAGTTAC	0.363													G	35928904	C	G	35928904	3	3	10	1	0	0	0	0	1	0	0	0	15457	796	28	5	2595	5	SYNRG	17	35928904	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	21818631	35928904	45266306	65	700											
KRT34	3885	broad.mit.edu	37	17	39535345	39535345	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:39535345G>A	uc002hwm.3	-	5	1098	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	362	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GAGACTCCACGTTGGTGATCA	0.617													A	39535345	G	A	39535345	2	1	10	1	0	0	0	0	0	0	0	1	8471	1136	40	1		1	KRT34	17	39535345	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	3606441	39535345	41659865	66	701											
ARMC7	79637	broad.mit.edu	37	17	73125017	73125017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:73125017C>T	uc002jmw.1	+	2	783	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_Non-coding_Transcript	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	Homo sapiens armadillo repeat containing 7 (ARMC7), mRNA.	161							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GAACCTGGCACAGATCTTCCT	0.706													T	73125017	C	T	73125017	4	4	10	1	0	0	0	0	0	1	0	0	956	479	17	3	491	3	ARMC7	17	73125017	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	33589672	73125017	8070193	67	702											
ANKRD12	23253	broad.mit.edu	37	18	9280962	9280962	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr18:9280962A>C	uc002knv.3	+	12	6291	c.6027A>C	c.(6025-6027)caA>caC	p.Q2009H	ANKRD12_uc002knw.3_Missense_Mutation_p.Q1986H|ANKRD12_uc002knx.3_Missense_Mutation_p.Q1986H	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	2009						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAGGCAACAACATGAAGCTG	0.363													C	9280962	A	C	9280962	3	2	10	1	0	0	0	0	1	0	0	0	640	40	2	5	6073	5	ANKRD12	18	9280962	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08		9280962	68796286	68	703											
GALR1	2587	broad.mit.edu	37	18	74962646	74962646	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr18:74962646G>A	uc002lms.4	+	0	639	c.142G>A	c.(142-144)Gtg>Atg	p.V48M		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	48					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.G47V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGCGCTGGGTGTGCTGGGCAA	0.682													A	74962646	G	A	74962646	3	1	10	1	0	0	0	0	1	0	0	0	6227	1377	48	3	144	3	GALR1	18	74962646	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	65681684	74962646	3114602	69	704											
OR7G2	390882	broad.mit.edu	37	19	9213120	9213120	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:9213120G>C	uc010xkk.2	-	0	863	c.863C>G	c.(862-864)tCa>tGa	p.S288*		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTTCCTAGGTGAGTCAGTAAC	0.463													C	9213120	G	C	9213120	4	2	10	1	0	0	0	0	0	1	0	0	11223	1294	45	5	176	5	OR7G2	19	9213120	Nonsense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		9213120	49915863	70	705											
C19orf44	84167	broad.mit.edu	37	19	16612069	16612069	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:16612069C>T	uc002neh.1	+	1	539	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.R156C|C19orf44_uc002neg.3_Missense_Mutation_p.R156C|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	156										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAATCAAGCCCGTGAACTTCC	0.498													T	16612069	C	T	16612069	3	4	10	1	0	0	0	0	1	0	0	0	1927	652	23	2	468	2	C19orf44	19	16612069	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	7398949	16612069	42516914	71	706											
KLHL26	55295	broad.mit.edu	37	19	18779533	18779533	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:18779533C>T	uc002njz.1	+	2	1353	c.1326C>T	c.(1324-1326)taC>taT	p.Y442Y		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	442										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTGGGGCTACGCCTGCTCGC	0.701													T	18779533	C	T	18779533	2	4	10	1	0	0	0	0	0	0	0	1	8381	547	19	1		1	KLHL26	19	18779533	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	2167464	18779533	40349450	72	707											
APLP1	333	broad.mit.edu	37	19	36363501	36363501	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:36363501C>T	uc002oce.3	+	6	1105	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	APLP1_uc010xsz.2_Missense_Mutation_p.R284C|APLP1_uc002ocf.3_Missense_Mutation_p.R323C|APLP1_uc002ocg.3_Missense_Mutation_p.R226C|APLP1_uc010xta.2_Missense_Mutation_p.R317C	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	323	Heparin-binding (By similarity).				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			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)			GCGTAGGATGCGCCAGATTAA	0.537													T	36363501	C	T	36363501	3	4	10	1	0	0	0	0	1	0	0	0	778	768	27	1	993	1	APLP1	19	36363501	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	17583968	36363501	22765482	73	708											
PSG8	440533	broad.mit.edu	37	19	43269670	43269670	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:43269670C>A	uc002ouo.2	-	1	162	c.64_splice	c.e1+1	p.A22_splice	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Splice_Site_p.A22_splice|PSG8_uc010ein.3_Splice_Site_p.V22_splice|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	22						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTCTCCTCACCTGTGAGCAGG	0.567													A	43269670	C	A	43269670	3	1	10	1	0	0	0	0	1	0	0	0	12661	695	24	5	1257	5	PSG8	19	43269670	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	6906169	43269670	15859313	74	709											
ZNF229	7772	broad.mit.edu	37	19	44933156	44933156	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:44933156G>A	uc002oze.1	-	5	2234	c.1800C>T	c.(1798-1800)taC>taT	p.Y600Y	ZNF229_uc010ejk.1_Silent_p.Y254Y|ZNF229_uc010ejl.1_Silent_p.Y594Y	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CGTCACACACGTAGGGCCTCT	0.542													A	44933156	G	A	44933156	2	1	10	1	0	0	0	0	0	0	0	1	17779	1140	40	1		1	ZNF229	19	44933156	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	1663486	44933156	14195827	75	710											
SPIB	6689	broad.mit.edu	37	19	50926144	50926144	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:50926144G>A	uc002psd.3	+	3	214	c.189G>A	c.(187-189)ccG>ccA	p.P63P	SPIB_uc021uyc.1_Missense_Mutation_p.R44Q|SPIB_uc002pse.3_Silent_p.P63P|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	63					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	p.P63Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTTCGACCCGGCAGCAGCCG	0.662													A	50926144	G	A	50926144	2	1	10	1	0	0	0	0	0	0	0	1	15049	1103	39	2		2	SPIB	19	50926144	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	5992988	50926144	8202839	76	711											
SIGLEC9	27180	broad.mit.edu	37	19	51630497	51630497	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:51630497G>A	uc010yct.2	+	3	1054	c.959G>A	c.(958-960)tGc>tAc	p.C320Y	SIGLEC9_uc002pvu.3_Missense_Mutation_p.C320Y	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	320	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			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)		GAATTCACCTGCAGAGCTCAG	0.622													A	51630497	G	A	51630497	3	1	10	1	0	0	0	0	1	0	0	0	14315	1319	46	3	973	3	SIGLEC9	19	51630497	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	704353	51630497	7498486	77	712											
ZNF417	147687	broad.mit.edu	37	19	58423432	58423432	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:58423432C>T	uc002qqq.3	-	1	358	c.159G>A	c.(157-159)tcG>tcA	p.S53S	ZNF417_uc010yhm.2_Silent_p.S10S|ZNF417_uc002qqr.3_Silent_p.S52S	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ACTTACCCAGCGAGGATATGA	0.498													T	58423432	C	T	58423432	2	4	10	1	0	0	0	0	0	0	0	1	17891	755	27	1		1	ZNF417	19	58423432	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	6792935	58423432	705551	78	713											
XKR7	343702	broad.mit.edu	37	20	30584453	30584453	+	Silent	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:30584453C>T	uc002wxe.3	+	2	1107	c.933C>T	c.(931-933)gcC>gcT	p.A311A		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	311						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGCATTGCCGCCCGCGGCC	0.637													T	30584453	C	T	30584453	2	4	10	1	0	0	0	0	0	0	0	1	17433	639	23	2		2	XKR7	20	30584453	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08		30584453	32441067	79	714											
KIAA1755	85449	broad.mit.edu	37	20	36869819	36869819	+	Silent	SNP	G	G	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:36869819G>C	uc002xhy.1	-	2	986	c.714C>G	c.(712-714)ggC>ggG	p.G238G	KIAA1755_uc002xhz.1_Silent_p.G238G	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	238										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CATATGTCCTGCCCTTACCCT	0.582													C	36869819	G	C	36869819	2	2	10	1	0	0	0	0	0	0	0	1	8257	1306	46	5		5	KIAA1755	20	36869819	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	6285366	36869819	26155701	80	715											
TOX2	84969	broad.mit.edu	37	20	42695486	42695486	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:42695486C>G	uc010ggo.3	+	7	1513	c.1473C>G	c.(1471-1473)atC>atG	p.I491M	TOX2_uc002xle.4_Missense_Mutation_p.I449M|TOX2_uc010ggp.3_Missense_Mutation_p.I449M|TOX2_uc002xlf.4_Missense_Mutation_p.I473M|TOX2_uc010zwk.2_Missense_Mutation_p.I369M	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGTGTGGCATCAGCACCTGCA	0.647													G	42695486	C	G	42695486	3	3	10	1	0	0	0	0	1	0	0	0	16375	816	29	5	1633	5	TOX2	20	42695486	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	5825667	42695486	20330034	81	716											
ZSWIM3	140831	broad.mit.edu	37	20	44506781	44506781	+	Silent	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:44506781C>G	uc002xqd.3	+	1	1829	c.1584C>G	c.(1582-1584)ggC>ggG	p.G528G	ZSWIM3_uc010zxg.2_Silent_p.G522G	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	528							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ACATGGCTGGCTCTTCAGTGG	0.547													G	44506781	C	G	44506781	2	3	10	1	0	0	0	0	0	0	0	1	18239	784	28	5		5	ZSWIM3	20	44506781	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	1811295	44506781	18518739	82	717											
TSHZ2	128553	broad.mit.edu	37	20	51871857	51871857	+	Silent	SNP	C	C	T	rs143642849		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:51871857C>T	uc002xwo.3	+	1	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TSHZ2_uc021wex.1_Silent_p.H617H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	620					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			AAAGTCCCCACGAAGAGGCCT	0.517													T	51871857	C	T	51871857	2	4	10	1	0	0	0	0	0	0	0	1	16621	535	19	1		1	TSHZ2	20	51871857	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	7365076	51871857	11153663	83	718											
TIMP3	7078	broad.mit.edu	37	22	33255261	33255261	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr22:33255261A>C	uc003anb.3	+	4	1719	c.533A>C	c.(532-534)cAg>cCg	p.Q178P	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	178	Mediates interaction with EFEMP1.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCTGGCTACCAGTCCAAACAC	0.557													C	33255261	A	C	33255261	3	2	10	1	0	0	0	0	1	0	0	0	15916	188	7	5	551	5	TIMP3	22	33255261	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08		33255261	18049305	84	719											
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr22:42071074G>A	uc003bav.3	-	2	363	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_uc003bat.3_Missense_Mutation_p.R84C	NM_001003796	NP_004999	P55769	NH2L1_HUMAN	Homo sapiens NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) (NHP2L1), transcript variant 2, mRNA.	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577													A	42071074	G	A	42071074	3	1	10	1	0	0	0	0	1	0	0	0	10410	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	8815813	42071074	9233492	85	720											
PRPS2	5634	broad.mit.edu	37	X	12817486	12817486	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:12817486G>A	uc004cva.3	+	1	426	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	PRPS2_uc004cvb.3_Missense_Mutation_p.A95T|PRPS2_uc010nec.3_Missense_Mutation_p.A28T	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	95					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TTTCCCATACGCCCGACAAGA	0.468													A	12817486	G	A	12817486	3	1	10	1	0	0	0	0	1	0	0	0	12580	1087	38	1	289	1	PRPS2	23	12817486	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		12817486	142453074	86	721											
PPP1R3F	89801	broad.mit.edu	37	X	49142412	49142412	+	Silent	SNP	C	C	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:49142412C>G	uc004dnh.2	+	3	1287	c.1260C>G	c.(1258-1260)tcC>tcG	p.S420S	PPP1R3F_uc004dni.3_Silent_p.S74S|PPP1R3F_uc011mnd.2_Silent_p.S91S|PPP1R3F_uc004dnj.2_Silent_p.S74S	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	420						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TTCCCCCCTCCTCCCCTCTCT	0.662													G	49142412	C	G	49142412	2	3	10	1	0	0	0	0	0	0	0	1	12375	668	24	5		5	PPP1R3F	23	49142412	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	36324926	49142412	106128148	87	722											
AWAT2	158835	broad.mit.edu	37	X	69262197	69262197	+	Silent	SNP	G	G	A			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:69262197G>A	uc004dxt.1	-	5	693	c.687C>T	c.(685-687)gaC>gaT	p.D229D		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	229						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GATCATAGAGGTCCGTCTCCC	0.502													A	69262197	G	A	69262197	2	1	10	1	0	0	0	0	0	0	0	1	1235	1252	44	3		3	AWAT2	23	69262197	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	20119785	69262197	86008363	88	723											
KLHL4	56062	broad.mit.edu	37	X	86873003	86873003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:86873003C>T	uc004efa.2	+	3	978	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	KLHL4_uc004efb.2_Nonsense_Mutation_p.Q266*	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	266						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAGCTGACTCAGGTCATTGA	0.418													T	86873003	C	T	86873003	4	4	10	1	0	0	0	0	0	1	0	0	8391	827	29	3	810	3	KLHL4	23	86873003	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	17610806	86873003	68397557	89	724											
KLHL13	90293	broad.mit.edu	37	X	117033178	117033178	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:117033178A>T	uc011mtp.2	-	7	1803	c.1670T>A	c.(1669-1671)gTc>gAc	p.V557D	KLHL13_uc004eqk.3_Missense_Mutation_p.V503D|KLHL13_uc004eql.3_Missense_Mutation_p.V554D|KLHL13_uc011mtn.2_Missense_Mutation_p.V394D|KLHL13_uc011mto.2_Missense_Mutation_p.V548D|KLHL13_uc011mtq.2_Missense_Mutation_p.V538D|KLHL13_uc004eqm.3_Missense_Mutation_p.V512D|KLHL13_uc022cde.1_Missense_Mutation_p.V538D	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	554					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAGCTTAGGACATCATCATA	0.463													T	117033178	A	T	117033178	3	4	10	1	0	0	0	0	1	0	0	0	8369	275	10	5	310	5	KLHL13	23	117033178	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	30160175	117033178	38237382	90	725											
THOC2	57187	broad.mit.edu	37	X	122820484	122820484	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:122820484A>G	uc004etu.3	-	7	714	c.682T>C	c.(682-684)Ttt>Ctt	p.F228L	THOC2_uc011muh.1_Missense_Mutation_p.F149L|THOC2_uc011mui.1_Missense_Mutation_p.F113L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	228					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAAGATATAAAGAAGTCATCG	0.368													G	122820484	A	G	122820484	3	3	10	1	0	0	0	0	1	0	0	0	15862	72	3	4	4223	4	THOC2	23	122820484	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	5787306	122820484	32450076	91	726											
CPSF3L	54973	broad.mit.edu	37	1	1248063	1248063	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:1248063G>A	uc001aef.1	-	14	1843	c.1330C>T	c.(1330-1332)Ccg>Tcg	p.P444S	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Missense_Mutation_p.P438S|CPSF3L_uc009vjz.1_Missense_Mutation_p.P416S|CPSF3L_uc010nyj.1_Missense_Mutation_p.P409S|CPSF3L_uc001aeg.1_Missense_Mutation_p.P314S|CPSF3L_uc001aeh.1_Missense_Mutation_p.P337S|CPSF3L_uc001aei.1_Missense_Mutation_p.P340S|CPSF3L_uc001aek.1_Missense_Mutation_p.P180S			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	438						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CCATTGGCCGGCATGTAGCAG	0.716													A	1248063	G	A	1248063	3	1	11	1	0	0	0	0	1	0	0	0	3827	1203	42	3	510	3	CPSF3L	1	1248063	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		1248063	248002558	1	727											
KIF17	57576	broad.mit.edu	37	1	21014370	21014370	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:21014370G>A	uc001bdr.4	-	7	1567	c.1449C>T	c.(1447-1449)agC>agT	p.S483S	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Silent_p.S483S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	483					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGTACTCAGCGCTGCTGGCAA	0.532													A	21014370	G	A	21014370	2	1	11	1	0	0	0	0	0	0	0	1	8279	1078	38	1		1	KIF17	1	21014370	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	19766307	21014370	228236251	2	728											
FOXJ3	22887	broad.mit.edu	37	1	42744223	42744223	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:42744223C>T	uc001che.3	-	4	477	c.165G>A	c.(163-165)aaG>aaA	p.K55K	FOXJ3_uc001chf.3_Silent_p.K55K|FOXJ3_uc001chh.2_Silent_p.K55K|FOXJ3_uc001chg.3_Silent_p.K55K	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	55					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGCATTCTTCTTAGAAATTC	0.453													T	42744223	C	T	42744223	2	4	11	1	0	0	0	0	0	0	0	1	6013	912	32	3		3	FOXJ3	1	42744223	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	21729853	42744223	206506398	3	729											
VCAM1	7412	broad.mit.edu	37	1	101197065	101197066	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:101197065_101197066delTA	uc001dti.3	+	5	1737_1738	c.1516_1517delTA	c.(1516-1518)tatfs	p.Y506fs	VCAM1_uc010ouj.2_Frame_Shift_Del_p.Y444fs|VCAM1_uc001dtj.3_Frame_Shift_Del_p.Y414fs	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	506	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCAAACACTTTATGTCAATGGT	0.366													-	101197066	TA	-	101197065	7	5	11	1	0	1	0	1	0	0	0	0	17134	1754	61	0	1538	0	VCAM1	1	101197065	Frame_Shift_Del	DEL	TA	TCGA-06-0124-01A-01D-1490-08	58452842	101197065	148053556	4	730											
IGSF3	3321	broad.mit.edu	37	1	117159063	117159063	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:117159063C>T	uc001egq.1	-	2	765	c.60G>A	c.(58-60)caG>caA	p.Q20Q	IGSF3_uc001egr.1_Silent_p.Q20Q	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	20	Ig-like C2-type 1.					integral to membrane				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)		TGACCTGCCGCTGTGCTGACA	0.527													T	117159063	C	T	117159063	2	4	11	1	0	0	0	0	0	0	0	1	7601	796	28	3		3	IGSF3	1	117159063	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	15961998	117159063	132091558	5	731											
FLG	2312	broad.mit.edu	37	1	152275657	152275657	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:152275657G>T	uc001ezu.1	-	2	11741	c.11705C>A	c.(11704-11706)cCc>cAc	p.P3902H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3902L(2)		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)			AGAGGATCCGGGGTGTCTGGA	0.512									Ichthyosis				T	152275657	G	T	152275657	3	4	11	1	0	0	0	0	1	0	0	0	5922	1232	43	5	484	5	FLG	1	152275657	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	35116594	152275657	96974964	6	732											
SELE	6401	broad.mit.edu	37	1	169698774	169698774	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:169698774G>A	uc001ggm.4	-	5	913	c.756C>T	c.(754-756)ttC>ttT	p.F252F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	252	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.F252F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACATTCCACGAACCCATTGG	0.428													A	169698774	G	A	169698774	2	1	11	1	0	0	0	0	0	0	0	1	14013	1049	37	2		2	SELE	1	169698774	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	17423117	169698774	79551847	7	733											
APOB	338	broad.mit.edu	37	2	21239331	21239331	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:21239331G>A	uc002red.3	-	20	3440	c.3312C>T	c.(3310-3312)gtC>gtT	p.V1104V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1104					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCATGAGGGCGACCTCAGTAA	0.478													A	21239331	G	A	21239331	2	1	11	1	0	0	0	0	0	0	0	1	785	1045	37	2		2	APOB	2	21239331	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08		21239331	221960042	8	734											
CD207	50489	broad.mit.edu	37	2	71058942	71058942	+	Silent	SNP	C	C	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:71058942C>G	uc002shg.3	-	4	773	c.726G>C	c.(724-726)ctG>ctC	p.L242L		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	242	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGTTTTATACAGAAACTCCT	0.537													G	71058942	C	G	71058942	2	3	11	1	0	0	0	0	0	0	0	1	2983	465	17	5		5	CD207	2	71058942	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	49819611	71058942	172140431	9	735											
ZAP70	7535	broad.mit.edu	37	2	98351172	98351172	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:98351172G>A	uc002syd.1	+	8	1286	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R250H|ZAP70_uc002syf.1_Missense_Mutation_p.R53H	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	360	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TACCGCATGCGCAAGTATGGC	0.637													A	98351172	G	A	98351172	3	1	11	1	0	0	0	0	1	0	0	0	17511	1087	38	1	1105	1	ZAP70	2	98351172	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	27292230	98351172	144848201	10	736											
MYO7B	4648	broad.mit.edu	37	2	128342397	128342399	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:128342397_128342399delCAA	uc002top.3	+	13	1652_1654	c.1599_1601delCAA	c.(1597-1602)gccaac>gcc	p.N535del		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	535	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			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)		GCGTCCATGCCAACAACAAGGCC	0.571													-	128342399	CAA	-	128342397	7	5	11	1	0	1	0	1	0	0	0	0	10083	581	21	0	1649	0	MYO7B	2	128342397	In_Frame_Del	DEL	CAA	TCGA-06-0124-01A-01D-1490-08	29991225	128342397	114856976	11	737											
MORC1	27136	broad.mit.edu	37	3	108754309	108754309	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr3:108754309C>T	uc003dxl.3	-	14	1424	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	MORC1_uc011bhn.2_Missense_Mutation_p.R446K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	446					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTTAAATTTCTATTATCTTT	0.279													T	108754309	C	T	108754309	3	4	11	1	0	0	0	0	1	0	0	0	9701	913	32	3	1673	3	MORC1	3	108754309	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08		108754309	89268121	12	738											
SEPSECS	51091	broad.mit.edu	37	4	25125641	25125641	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:25125641T>C	uc003grg.3	-	10	1631	c.1418A>G	c.(1417-1419)tAt>tGt	p.Y473C	SEPSECS_uc003gri.3_Missense_Mutation_p.Y472C|SEPSECS_uc003grh.3_Missense_Mutation_p.Y394C	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	473					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AGTTTTGTCATAATTGTCATC	0.378													C	25125641	T	C	25125641	3	2	11	1	0	0	0	0	1	0	0	0	14058	1406	49	4	91	4	SEPSECS	4	25125641	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08		25125641	166028635	13	739											
SLC34A2	10568	broad.mit.edu	37	4	25664233	25664236	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:25664233_25664236delAAGT	uc003grr.3	+	2	193	c.112_splice	c.e2+1	p.T38_splice	SLC34A2_uc003grs.3_Splice_Site_p.N38_splice|SLC34A2_uc010iev.3_Splice_Site_p.N38_splice	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	38					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGACCAACAAAAGTAAGTGTCGCT	0.534			T	ROS1	NSCLC								-	25664236	AAGT	-	25664233	8	5	11	1	0	1	0	1	0	0	1	0	14568	28	1	0	113	0	SLC34A2	4	25664233	Splice_Site	DEL	AAGT	TCGA-06-0124-01A-01D-1490-08	538592	25664233	165490043	14	740											
RBM47	54502	broad.mit.edu	37	4	40440818	40440818	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:40440818G>A	uc003gvc.2	-	3	803	c.93C>T	c.(91-93)aaC>aaT	p.N31N	RBM47_uc003gvd.2_Silent_p.N31N|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Intron|RBM47_uc003gvg.1_Silent_p.N31N	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	31						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTGCTGCCTCGTTGGGCGCGC	0.697													A	40440818	G	A	40440818	2	1	11	1	0	0	0	0	0	0	0	1	13141	1136	40	1		1	RBM47	4	40440818	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	14776585	40440818	150713458	15	741											
ADAM29	11086	broad.mit.edu	37	4	175896931	175896931	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:175896931C>T	uc003iuc.3	+	4	925	c.255C>T	c.(253-255)gaC>gaT	p.D85D	ADAM29_uc003iud.3_Silent_p.D85D|ADAM29_uc010irr.3_Silent_p.D85D|ADAM29_uc011cki.2_Silent_p.D85D|ADAM29_uc021xuo.1_Silent_p.D85D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	85					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.D85E(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTACACAGACCAGGGTGCTA	0.473													T	175896931	C	T	175896931	2	4	11	1	0	0	0	0	0	0	0	1	247	506	18	3		3	ADAM29	4	175896931	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	135456113	175896931	15257345	16	742											
SLC6A19	340024	broad.mit.edu	37	5	1208942	1208942	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:1208942G>A	uc003jbw.4	+	1	340	c.284G>A	c.(283-285)cGg>cAg	p.R95Q		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	95					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			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)			ATCGGGCAGCGGCTGCGGCGG	0.677													A	1208942	G	A	1208942	3	1	11	1	0	0	0	0	1	0	0	0	14682	1116	39	2	290	2	SLC6A19	5	1208942	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		1208942	179706318	17	743											
BASP1	10409	broad.mit.edu	37	5	17275409	17275409	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:17275409C>T	uc003jfx.3	+	1	263	c.84C>T	c.(82-84)ggC>ggT	p.G28G	BASP1_uc021xws.1_Silent_p.G28G	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	28					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			endometrium(1)|lung(8)	9						AGGCCGAGGGCGCGGCGACGG	0.627													T	17275409	C	T	17275409	2	4	11	1	0	0	0	0	0	0	0	1	1317	755	27	1		1	BASP1	5	17275409	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	16066467	17275409	163639851	18	744											
HCN1	348980	broad.mit.edu	37	5	45262205	45262205	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:45262205C>A	uc003jok.3	-	7	2516	c.2491G>T	c.(2491-2493)Ggc>Tgc	p.G831C		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	831						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGCTCCTGCCCCCTGCCTGA	0.677													A	45262205	C	A	45262205	3	1	11	1	0	0	0	0	1	0	0	0	6996	623	22	5	185	5	HCN1	5	45262205	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	27986796	45262205	135653055	19	745											
VCAN	1462	broad.mit.edu	37	5	82808046	82808046	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:82808046T>A	uc003kii.3	+	5	1229	c.873T>A	c.(871-873)ttT>ttA	p.F291L	VCAN_uc003kij.3_Missense_Mutation_p.F291L|VCAN_uc010jau.2_Missense_Mutation_p.F291L|VCAN_uc003kik.3_Missense_Mutation_p.F291L|VCAN_uc003kih.4_Missense_Mutation_p.F291L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	291	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.G290S(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)		GGAACGGCTTTGACCAGTGCG	0.602													A	82808046	T	A	82808046	3	1	11	1	0	0	0	0	1	0	0	0	17135	1809	63	5	891	5	VCAN	5	82808046	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	37545841	82808046	98107214	20	746											
RAPGEF6	96459	broad.mit.edu	37	5	131042146	131042146	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:131042146C>T	uc003kvs.1	-	8	1014	c.872G>A	c.(871-873)cGc>cAc	p.R291H	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.R263H|RAPGEF6_uc010jdm.1_Missense_Mutation_p.R246H|RAPGEF6_uc003kvu.3_Missense_Mutation_p.R291H	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGTTTGGCTGCGTCGCCAACG	0.438													T	131042146	C	T	131042146	3	4	11	1	0	0	0	0	1	0	0	0	13048	768	27	1		1	RAPGEF6	5	131042146	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	48234100	131042146	49873114	21	747											
PCDHAC2	56137	broad.mit.edu	37	5	140256419	140256419	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:140256419G>A	uc003lic.2	+	0	1489	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A454A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	468	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T454S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652													A	140256419	G	A	140256419	2	1	11	1	0	0	0	0	0	0	0	1	11533	1132	40	1		1	PCDHAC2	5	140256419	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	9214273	140256419	40658841	22	748											
JAKMIP2	9832	broad.mit.edu	37	5	147040668	147040668	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:147040668G>A	uc010jgo.1	-	1	618	c.470C>T	c.(469-471)gCg>gTg	p.A157V	JAKMIP2_uc003loq.1_Missense_Mutation_p.A157V|JAKMIP2_uc011dbx.1_Missense_Mutation_p.A115V|JAKMIP2_uc003lor.1_Missense_Mutation_p.A157V|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	157						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAGGTCCGCAATTTCCTG	0.542													A	147040668	G	A	147040668	3	1	11	1	0	0	0	0	1	0	0	0	7941	1087	38	1	2038	1	JAKMIP2	5	147040668	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	6784249	147040668	33874592	23	749											
COL23A1	91522	broad.mit.edu	37	5	177690250	177690250	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:177690250C>T	uc021yiz.1	-	8	956	c.598G>A	c.(598-600)Gac>Aac	p.D200N	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Silent_p.A47A	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	200	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TTCCCAGTGTCGCCAGGAGGG	0.637													T	177690250	C	T	177690250	3	4	11	1	0	0	0	0	1	0	0	0	3682	884	31	2	1108	2	COL23A1	5	177690250	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	30649582	177690250	3225010	24	750											
RNF8	9025	broad.mit.edu	37	6	37336605	37336605	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:37336605G>A	uc003onq.4	+	2	779	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RNF8_uc003onr.4_Missense_Mutation_p.A196T|RNF8_uc011dtx.2_Missense_Mutation_p.A128T	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	196					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGGTGAAGTGGCCAGTACACC	0.483													A	37336605	G	A	37336605	3	1	11	1	0	0	0	0	1	0	0	0	13500	1203	42	3	596	3	RNF8	6	37336605	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		37336605	133778462	25	751											
PEX6	5190	broad.mit.edu	37	6	42937419	42937419	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:42937419G>A	uc003otf.3	-	4	1447	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	452					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.R452H(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGCTGGAGGCGAGGCTTCAGG	0.567													A	42937419	G	A	42937419	3	1	11	1	0	0	0	0	1	0	0	0	11750	1058	37	2	1640	2	PEX6	6	42937419	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	5600814	42937419	128177648	26	752											
RFX6	222546	broad.mit.edu	37	6	117243268	117243268	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:117243268C>A	uc003pxm.3	+	12	1454	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	464					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTGTGGAGGCTTTTATTGAA	0.338													A	117243268	C	A	117243268	3	1	11	1	0	0	0	0	1	0	0	0	13267	797	28	5	1441	5	RFX6	6	117243268	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	74305849	117243268	53871799	27	753											
PTPRK	5796	broad.mit.edu	37	6	128388894	128388894	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:128388894T>C	uc003qbk.3	-	11	2294	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	PTPRK_uc010kfc.3_Missense_Mutation_p.K643E|PTPRK_uc003qbj.3_Missense_Mutation_p.K643E|PTPRK_uc011ebu.2_Missense_Mutation_p.K643E|PTPRK_uc003qbl.1_Missense_Mutation_p.K513E|PTPRK_uc011ebv.1_Missense_Mutation_p.K643E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	643	Fibronectin type-III 4.	Cleavage (Probable).			cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCTTCTCTCTTGGTTCGGTGT	0.448													C	128388894	T	C	128388894	3	2	11	1	0	0	0	0	1	0	0	0	12805	1821	63	4	2493	4	PTPRK	6	128388894	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	11145626	128388894	42726173	28	754											
TYW1B	441250	broad.mit.edu	37	7	72093938	72093938	+	Silent	SNP	G	G	A	rs149299985	by1000genomes	TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:72093938G>A	uc011kej.2	-	13	1707	c.1548C>T	c.(1546-1548)aaC>aaT	p.N516N	TYW1B_uc011keh.1_Silent_p.N354N|TYW1B_uc011kei.2_Silent_p.N143N	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	517					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCTCGTCCACGTTCCATGCTT	0.522													A	72093938	G	A	72093938	2	1	11	1	0	0	0	0	0	0	0	1	16816	1136	40	1		1	TYW1B	7	72093938	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08		72093938	87044725	29	755											
ABCB4	5244	broad.mit.edu	37	7	87104766	87104766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:87104766C>T	uc003uiv.1	-	1	92	c.16G>A	c.(16-18)Gca>Aca	p.A6T	ABCB4_uc003uiw.1_Missense_Mutation_p.A6T|ABCB4_uc003uix.1_Missense_Mutation_p.A6T|ABCB4_uc003uiy.3_Missense_Mutation_p.A6T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	6					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCGTTCTTTGCCGCCTCAAGA	0.647													T	87104766	C	T	87104766	3	4	11	1	0	0	0	0	1	0	0	0	43	739	26	3	3952	3	ABCB4	7	87104766	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	15010828	87104766	72033897	30	756											
ZAN	7455	broad.mit.edu	37	7	100373053	100373053	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:100373053C>T	uc003uwj.3	+	32	6045	c.5880C>T	c.(5878-5880)tgC>tgT	p.C1960C	ZAN_uc003uwk.3_Silent_p.C1960C|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.C48C	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1961	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			TGAAAGTGTGCCACCCCGCCA	0.547													T	100373053	C	T	100373053	2	4	11	1	0	0	0	0	0	0	0	1	17510	747	26	3		3	ZAN	7	100373053	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	13268287	100373053	58765610	31	757											
MUC17	140453	broad.mit.edu	37	7	100681607	100681607	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:100681607G>C	uc003uxp.1	+	2	6963	c.6910G>C	c.(6910-6912)Gtt>Ctt	p.V2304L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2304	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					AACAACTCCTGTTGACTCCAA	0.473													C	100681607	G	C	100681607	3	2	11	1	0	0	0	0	1	0	0	0	9974	1377	48	5	6920	5	MUC17	7	100681607	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	308554	100681607	58457056	32	758											
RELN	5649	broad.mit.edu	37	7	103130205	103130205	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:103130205G>A	uc022ajr.1	-	59	9907	c.9747C>T	c.(9745-9747)tgC>tgT	p.C3249C	RELN_uc022ajq.1_Silent_p.C3249C|RELN_uc010liz.3_Silent_p.C3249C	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3249	EGF-like 8.				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			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)		AGCTCTCGTCGCAGATGCAGA	0.517													A	103130205	G	A	103130205	2	1	11	1	0	0	0	0	0	0	0	1	13220	1079	38	1		1	RELN	7	103130205	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	2448598	103130205	56008458	33	759											
ADAM7	8756	broad.mit.edu	37	8	24365011	24365012	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:24365011_24365012TC>AA	uc003xeb.3	+	20	2340_2341	c.2227_2228TC>AA	c.(2227-2229)tca>AAa	p.S743K	ADAM7_uc003xec.3_Intron	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	743					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D742Y(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGTAAAGATTCAAGAGGAATC	0.396													AA	24365012	TC	AA	24365011	3	1	11	1	0	0	0	0	1	0	0	0	251	1783	62	5	2309	5	ADAM7	8	24365011	Missense_Mutation	DNP	TC	TCGA-06-0124-01A-01D-1490-08		24365011	121999011	34	760											
DOCK5	80005	broad.mit.edu	37	8	25158172	25158172	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:25158172C>G	uc003xeg.3	+	9	983	c.846_splice	c.e9+1	p.T282_splice	DOCK5_uc010luf.1_Splice_Site|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.3_Splice_Site_p.T282_splice	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	282						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCAGTGTTTACAGTAAGTCCT	0.363													G	25158172	C	G	25158172	3	3	11	1	0	0	0	0	1	0	0	0	4690	492	17	5	879	5	DOCK5	8	25158172	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	793161	25158172	121205850	35	761											
EBF2	64641	broad.mit.edu	37	8	25715990	25715990	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:25715990G>A	uc003xes.2	-	13	1638	c.1373C>T	c.(1372-1374)cCg>cTg	p.P458L	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	458	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.P458L(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTATCCCCGCGGAGAGATGCT	0.522													A	25715990	G	A	25715990	3	1	11	1	0	0	0	0	1	0	0	0	4881	1116	39	2	366	2	EBF2	8	25715990	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	557818	25715990	120648032	36	762											
TRPA1	8989	broad.mit.edu	37	8	72948651	72948651	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:72948651C>A	uc003xza.3	-	20	2602	c.2427G>T	c.(2425-2427)tgG>tgT	p.W809C	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	809						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)	TGTAGATAATCCATTCAAGAA	0.363													A	72948651	C	A	72948651	3	1	11	1	0	0	0	0	1	0	0	0	16574	856	30	5	960	5	TRPA1	8	72948651	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	47232661	72948651	73415371	37	763											
RIMS2	9699	broad.mit.edu	37	8	104930679	104930679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:104930679C>T	uc003yls.3	+	6	1622	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.R683*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R491*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R491*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R538*|RIMS2_uc003ylt.3_Nonsense_Mutation_p.R84*|RIMS2_uc003ylu.1_Nonsense_Mutation_p.R74*|RIMS2_uc003ylv.1_Nonsense_Mutation_p.R74*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	761					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			AGATATACCGCGAATACCTGA	0.299										HNSCC(12;0.0054)			T	104930679	C	T	104930679	4	4	11	1	0	0	0	0	0	1	0	0	13368	760	27	1	2207	1	RIMS2	8	104930679	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	31982028	104930679	41433343	38	764											
RIMS2	9699	broad.mit.edu	37	8	105264036	105264036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:105264036C>A	uc003yls.3	+	27	4333	c.4092C>A	c.(4090-4092)taC>taA	p.Y1364*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.Y1346*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.Y1160*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.Y1185*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1408					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			GACCTTCTTACTCTCGTTCAT	0.423										HNSCC(12;0.0054)			A	105264036	C	A	105264036	4	1	11	1	0	0	0	0	0	1	0	0	13368	576	20	5	4328	5	RIMS2	8	105264036	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	333357	105264036	41099986	39	765											
SMARCA2	6595	broad.mit.edu	37	9	2039586	2039586	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:2039586G>A	uc003zhc.3	+	3	575	c.476G>A	c.(475-477)gGt>gAt	p.G159D	SMARCA2_uc003zhd.3_Missense_Mutation_p.G159D|SMARCA2_uc010mha.3_Missense_Mutation_p.G150D	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	159					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTCATCCCAGGTGATCCGCAG	0.582													A	2039586	G	A	2039586	3	1	11	1	0	0	0	0	1	0	0	0	14769	1261	44	3	486	3	SMARCA2	9	2039586	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		2039586	139173845	40	766											
VCP	7415	broad.mit.edu	37	9	35059646	35059647	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:35059646_35059647insT	uc003zvy.2	-	13	2236_2237	c.1847_1848insA	c.(1846-1848)aatfs	p.N616fs	VCP_uc010mkh.1_Frame_Shift_Ins_p.N285fs|VCP_uc010mki.1_Frame_Shift_Ins_p.N571fs	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	616					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	p.N616fs*63(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGAACACATTTTTTTTTGT	0.515													T	35059647	-	T	35059646	7	5	11	1	0	1	1	0	0	0	0	0	17137	214	8	0	588	0	VCP	9	35059646	Frame_Shift_Ins	INS	-	TCGA-06-0124-01A-01D-1490-08	33020060	35059646	106153785	41	767											
DAB2IP	153090	broad.mit.edu	37	9	124535257	124535257	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:124535257C>T	uc004bln.3	+	11	2435	c.2366C>T	c.(2365-2367)cCa>cTa	p.P789L	DAB2IP_uc004blo.3_Missense_Mutation_p.P693L|DAB2IP_uc004blp.3_Missense_Mutation_p.P222L	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	817					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GAGGGCGCGCCAGGCCGGCCC	0.726													T	124535257	C	T	124535257	3	4	11	1	0	0	0	0	1	0	0	0	4219	594	21	3	2412	3	DAB2IP	9	124535257	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	89475611	124535257	16678174	42	768											
RBM18	92400	broad.mit.edu	37	9	125004210	125004210	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:125004210T>A	uc004bma.2	-	5	692	c.526A>T	c.(526-528)Aaa>Taa	p.K176*	RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA.	176							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						GTAGTCCTTTTTTTATCTGGT	0.398													A	125004210	T	A	125004210	4	1	11	1	0	0	0	0	0	1	0	0	13120	1850	64	5	50	5	RBM18	9	125004210	Nonsense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	468953	125004210	16209221	43	769			1	2		2	2	18	N	T_A	4.063653e-05
RBM18	92400	broad.mit.edu	37	9	125004227	125004227	+	Missense_Mutation	SNP	A	A	C	rs111532590		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:125004227A>C	uc004bma.2	-	5	675	c.509T>G	c.(508-510)tTt>tGt	p.F170C	RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA.	170							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TGGTGGCTTAAAGTAGGAATA	0.403													C	125004227	A	C	125004227	3	2	11	1	0	0	0	0	1	0	0	0	13120	14	1	5	67	5	RBM18	9	125004227	Missense_Mutation	SNP	A	TCGA-06-0124-01A-01D-1490-08	17	125004227	16209204	44	770			1	2		2	2	18	N	T_A	4.063653e-05
CCNY	219771	broad.mit.edu	37	10	35819172	35819172	+	Splice_Site	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:35819172G>A	uc001iyw.4	+	7	759	c.579_splice	c.e7+1	p.L193_splice	CCNY_uc001iyu.4_Splice_Site_p.L139_splice|CCNY_uc001iyv.4_Splice_Site_p.L139_splice|CCNY_uc001iyx.4_Splice_Site_p.L139_splice|CCNY_uc009xmb.3_Splice_Site_p.L168_splice|CCNY_uc010qet.2_Splice_Site_p.L60_splice	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	193	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CGTCACCCTGGTGAGTGCCCT	0.577													A	35819172	G	A	35819172	5	1	11	1	0	0	0	0	0	0	1	0	2936	1275	44	3	606	3	CCNY	10	35819172	Splice_Site	SNP	G	TCGA-06-0124-01A-01D-1490-08		35819172	99715575	45	771											
PTEN	5728	broad.mit.edu	37	10	89720679	89720679	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:89720679C>T	uc001kfb.3	+	7	1862	c.830C>T	c.(829-831)aCa>aTa	p.T277I	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	277	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T277I(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N276fs*15(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277fs*13(1)|p.N276K(1)|p.T277A(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGGTAAATACATTCTTCATA	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720679	C	T	89720679	3	4	11	1	0	0	0	0	1	0	0	0	12738	478	17	3	860	3	PTEN	10	89720679	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	53901507	89720679	45814068	46	772											
HPS6	79803	broad.mit.edu	37	10	103827534	103827534	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:103827534C>T	uc001kuj.3	+	0	2411	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	768						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AGCACTCCACCCCCGACTCCA	0.592									Hermansky-Pudlak syndrome				T	103827534	C	T	103827534	3	4	11	1	0	0	0	0	1	0	0	0	7343	623	22	3	2305	3	HPS6	10	103827534	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	14106855	103827534	31707213	47	773											
KRTAP5-4	387267	broad.mit.edu	37	11	1643000	1643000	+	Silent	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:1643000C>T	uc009ycy.1	-	1	306	c.219G>A	c.(217-219)aaG>aaA	p.K73K	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	168	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)		CACAGCCCCCCTTGGAGCCCC	0.682													T	1643000	C	T	1643000	2	4	11	1	0	0	0	0	0	0	0	1	8563	680	24	3		3	KRTAP5-4	11	1643000	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08		1643000	133363516	48	774											
NAP1L4	4676	broad.mit.edu	37	11	2975821	2975821	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:2975821C>T	uc010qxm.2	-	12	1255	c.971G>A	c.(970-972)cGt>cAt	p.R324H	NAP1L4_uc001lxb.3_5'Flank|NAP1L4_uc001lxc.3_Missense_Mutation_p.R324H|NAP1L4_uc010qxn.2_Missense_Mutation_p.R324H	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	324					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TATCCGCTCACGGAAAAAGTG	0.473													T	2975821	C	T	2975821	3	4	11	1	0	0	0	0	1	0	0	0	10159	536	19	1	172	1	NAP1L4	11	2975821	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	1332821	2975821	132030695	49	775											
OR52K1	390036	broad.mit.edu	37	11	4510426	4510426	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:4510426G>C	uc001lza.2	+	0	318	c.296G>C	c.(295-297)tGt>tCt	p.C99S		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCTTTGCCTGTCTGGTCCAG	0.502													C	4510426	G	C	4510426	3	2	11	1	0	0	0	0	1	0	0	0	11123	1377	48	5	298	5	OR52K1	11	4510426	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	1534605	4510426	130496090	50	776											
HTR3A	3359	broad.mit.edu	37	11	113856764	113856764	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:113856764G>A	uc010rxb.2	+	5	823	c.590G>A	c.(589-591)cGc>cAc	p.R197H	HTR3A_uc010rxa.2_Missense_Mutation_p.R197H|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Missense_Mutation_p.R176H	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	191					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R191H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCTTTGTGGCGCTTGCCAGAA	0.522													A	113856764	G	A	113856764	3	1	11	1	0	0	0	0	1	0	0	0	7444	1087	38	1	638	1	HTR3A	11	113856764	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	109346338	113856764	21149752	51	777											
AMICA1	120425	broad.mit.edu	37	11	118074267	118074267	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:118074267G>A	uc001psk.2	-	5	822	c.648C>T	c.(646-648)gaC>gaT	p.D216D	AMICA1_uc001psg.2_Silent_p.D26D|AMICA1_uc001psh.2_Silent_p.D177D|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.D206D|AMICA1_uc010rxw.1_Silent_p.D177D|AMICA1_uc010rxx.1_Silent_p.D216D|AMICA1_uc001psl.1_Silent_p.D172D	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	216	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		TGATGGAACCGTCATTGCGGA	0.512													A	118074267	G	A	118074267	2	1	11	1	0	0	0	0	0	0	0	1	574	1136	40	1		1	AMICA1	11	118074267	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	4217503	118074267	16932249	52	778											
LPAR5	57121	broad.mit.edu	37	12	6729601	6729601	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:6729601G>A	uc009zer.2	-	1	1095	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	LPAR5_uc001qps.2_Missense_Mutation_p.R272C|LPAR5_uc010sff.1_Missense_Mutation_p.R272C|LPAR5_uc021qub.1_Missense_Mutation_p.R272C	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	272						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACGCGATCGCGGGCAGGCACG	0.667													A	6729601	G	A	6729601	3	1	11	1	0	0	0	0	1	0	0	0	8908	1116	39	2	308	2	LPAR5	12	6729601	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		6729601	127122294	53	779											
PTPN6	5777	broad.mit.edu	37	12	7069104	7069104	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:7069104G>A	uc001qsb.2	+	11	1618	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	PTPN6_uc001qsa.1_Missense_Mutation_p.R461H|PTPN6_uc010sfr.1_Missense_Mutation_p.R420H|PTPN6_uc009zfl.1_Missense_Mutation_p.R459H|PTPN6_uc010sfs.1_Missense_Mutation_p.R447H	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	459	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|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|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGCATCGGCCGCACAGGCACC	0.672													A	7069104	G	A	7069104	3	1	11	1	0	0	0	0	1	0	0	0	12792	1087	38	1	1440	1	PTPN6	12	7069104	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	339503	7069104	126782791	54	780											
KLRC2	3823	broad.mit.edu	37	12	10573119	10573119	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:10573119C>A	uc001qyi.1	-	0	76	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	KLRC2_uc001qyf.3_Missense_Mutation_p.V11L|KLRC2_uc021qvc.1_Missense_Mutation_p.V11L|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Missense_Mutation_p.V11L	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	11					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GCCAGACTCACTTCTGAGAAG	0.423													A	10573119	C	A	10573119	3	1	11	1	0	0	0	0	1	0	0	0	8416	565	20	5		5	KLRC2	12	10573119	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	3504015	10573119	123278776	55	781											
KLRC2	3823	broad.mit.edu	37	12	10588555	10588555	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:10588555C>A	uc001qyh.3	-	0	38	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	KLRC2_uc010she.1_Missense_Mutation_p.V11L|KLRC2_uc001qyk.2_Missense_Mutation_p.V11L	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	11					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GCCAGACTCACTTCTGAGAAG	0.423													A	10588555	C	A	10588555	3	1	11	1	0	0	0	0	1	0	0	0	8416	565	20	5	688	5	KLRC2	12	10588555	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	15436	10588555	123263340	56	782											
ADAMTS20	80070	broad.mit.edu	37	12	43944924	43944924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:43944924G>A	uc010skx.2	-	1	241	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	81						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGTGAAGCGATAGTGGGTT	0.617													A	43944924	G	A	43944924	3	1	11	1	0	0	0	0	1	0	0	0	266	1058	37	2	5642	2	ADAMTS20	12	43944924	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	33356369	43944924	89906971	57	783											
TTC8	123016	broad.mit.edu	37	14	89336533	89336533	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr14:89336533G>T	uc010ath.3	+	10	1222	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L	TTC8_uc001xxi.3_Missense_Mutation_p.R347L|TTC8_uc001xxj.3_Missense_Mutation_p.R337L|TTC8_uc001xxk.3_Missense_Mutation_p.R307L|TTC8_uc001xxl.3_Missense_Mutation_p.R108L|TTC8_uc010ati.3_Missense_Mutation_p.R149L|TTC8_uc010atj.3_Missense_Mutation_p.R82L	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	373					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ATAGCTCTCCGGTTTTACAGG	0.358													T	89336533	G	T	89336533	3	4	11	1	0	0	0	0	1	0	0	0	16711	1116	39	5	1082	5	TTC8	14	89336533	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		89336533	18013007	58	784											
DIO3	1735	broad.mit.edu	37	14	102028704	102028704	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr14:102028704C>T	uc021sdx.1	+	0	1017	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	265					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTGGTTGGAACGCTATGATGA	0.592													T	102028704	C	T	102028704	3	4	11	1	0	0	0	0	1	0	0	0	4526	536	19	1	873	1	DIO3	14	102028704	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	12692171	102028704	5320836	59	785											
SEPT12	124404	broad.mit.edu	37	16	4836007	4836007	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr16:4836007G>A	uc002cxq.3	-	2	530	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SEPT12_uc002cxr.3_Missense_Mutation_p.T89M|SEPT12_uc010bty.3_Non-coding_Transcript|LOC440335_uc021tcl.1_5'Flank|LOC440335_uc002cxt.3_5'Flank	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	89					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CAGCTGCAGCGTCTGGGGTGT	0.637													A	4836007	G	A	4836007	3	1	11	1	0	0	0	0	1	0	0	0	14062	1145	40	1	842	1	SEPT12	16	4836007	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		4836007	85518746	60	786											
ZNF768	79724	broad.mit.edu	37	16	30535933	30535933	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr16:30535933C>T	uc002dyk.4	-	1	1704	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	ZNF768_uc010vex.2_Missense_Mutation_p.E479K|ZNF768_uc010vew.2_Missense_Mutation_p.E479K	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	510					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAAGGCCGCTCGCCACTGTGG	0.701													T	30535933	C	T	30535933	3	4	11	1	0	0	0	0	1	0	0	0	18138	893	31	2	98	2	ZNF768	16	30535933	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	25699926	30535933	59818820	61	787											
CAMKK1	84254	broad.mit.edu	37	17	3779601	3779601	+	Silent	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:3779601G>A	uc002fwv.3	-	10	1174	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	CAMKK1_uc002fwt.3_Silent_p.D304D|CAMKK1_uc002fwu.3_Silent_p.D304D	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	304	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACAGCTGAGCGTCGTTCCCCT	0.612													A	3779601	G	A	3779601	2	1	11	1	0	0	0	0	0	0	0	1	2606	1136	40	1		1	CAMKK1	17	3779601	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08		3779601	77415609	62	788											
NF1	4763	broad.mit.edu	37	17	29662002	29662002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:29662002C>T	uc002hgg.3	+	39	6342	c.5959C>T	c.(5959-5961)Cag>Tag	p.Q1987*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1966*|NF1_uc010cso.3_Nonsense_Mutation_p.Q175*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1987					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1987*(2)|p.K1986fs*27(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAATGAAAAACAGATGTACCC	0.358			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29662002	C	T	29662002	4	4	11	1	0	0	0	0	0	1	0	0	10356	479	17	3	6178	3	NF1	17	29662002	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	25882401	29662002	51533208	63	789											
NF1	4763	broad.mit.edu	37	17	29667596	29667596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:29667596C>A	uc002hgg.3	+	46	7378	c.6995C>A	c.(6994-6996)tCa>tAa	p.S2332*	NF1_uc002hgh.3_Nonsense_Mutation_p.S2311*|NF1_uc010cso.3_Nonsense_Mutation_p.S520*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2332					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S2332*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACTTGTATTCAGCAGGTACC	0.448			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29667596	C	A	29667596	4	1	11	1	0	0	0	0	0	1	0	0	10356	838	29	5	7242	5	NF1	17	29667596	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	5594	29667596	51527614	64	790											
KRT37	8688	broad.mit.edu	37	17	39578641	39578641	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:39578641C>T	uc002hwp.1	-	3	825	c.778G>A	c.(778-780)Gag>Aag	p.E260K		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	260	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ATGTCCAGCTCGATCCGGAAC	0.552													T	39578641	C	T	39578641	3	4	11	1	0	0	0	0	1	0	0	0	8474	893	31	2	587	2	KRT37	17	39578641	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	9911045	39578641	41616569	65	791											
CLEC4M	10332	broad.mit.edu	37	19	7831634	7831634	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:7831634G>A	uc010dvt.3	+	4	995	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.V270I|CLEC4M_uc010xjw.2_Missense_Mutation_p.V226I|CLEC4M_uc010dvs.3_Missense_Mutation_p.V269I|CLEC4M_uc010xjx.2_Missense_Mutation_p.V242I|CLEC4M_uc002mhz.3_Missense_Mutation_p.V201I|CLEC4M_uc002mic.3_Missense_Mutation_p.V265I|CLEC4M_uc002mia.3_Missense_Mutation_p.V157I	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	293	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			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GCACGACTCCGTCACCGCCTG	0.597													A	7831634	G	A	7831634	3	1	11	1	0	0	0	0	1	0	0	0	3518	1145	40	1	916	1	CLEC4M	19	7831634	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		7831634	51297349	66	792											
NCAN	1463	broad.mit.edu	37	19	19337603	19337603	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:19337603G>C	uc002nlz.3	+	6	1480	c.1381G>C	c.(1381-1383)Ggc>Cgc	p.G461R	NCAN_uc010ecc.1_Missense_Mutation_p.G25R	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	461					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CATGGGGGCAGGCACTGCAGC	0.642													C	19337603	G	C	19337603	3	2	11	1	0	0	0	0	1	0	0	0	10204	1000	35	5	1403	5	NCAN	19	19337603	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	11505969	19337603	39791380	67	793											
PAPL	390928	broad.mit.edu	37	19	39591969	39591969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:39591969C>T	uc002oki.3	+	9	1289	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	PAPL_uc010egl.3_Silent_p.N297N	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	339						extracellular region	acid phosphatase activity|metal ion binding										CTCGTATGAACGACTGTGGCC	0.597													T	39591969	C	T	39591969	4	4	11	1	0	0	0	0	0	1	0	0	11427	528	19	1	1049	1	PAPL	19	39591969	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	20254366	39591969	19537014	68	794											
RSPO4	343637	broad.mit.edu	37	20	947858	947858	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr20:947858G>A	uc002wej.3	-	2	468	c.368C>T	c.(367-369)cCg>cTg	p.P123L	RSPO4_uc002wek.3_Missense_Mutation_p.P123L	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	123					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGTGCCCGGCGGGCAGGTGGG	0.647													A	947858	G	A	947858	3	1	11	1	0	0	0	0	1	0	0	0	13712	1116	39	2	348	2	RSPO4	20	947858	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		947858	62077662	69	795											
POTED	317754	broad.mit.edu	37	21	14982928	14982928	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr21:14982928G>A	uc002yjb.1	+	0	431	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	127						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CGACCACAGCGCCTTCATGGA	0.597													A	14982928	G	A	14982928	3	1	11	1	0	0	0	0	1	0	0	0	12263	1087	38	1	381	1	POTED	21	14982928	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		14982928	33146967	70	796											
PRDM15	63977	broad.mit.edu	37	21	43291677	43291677	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr21:43291677C>T	uc002yzq.1	-	3	578	c.467G>A	c.(466-468)gGg>gAg	p.G156E	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CACCTCATTCCCTAGAGATGT	0.582													T	43291677	C	T	43291677	3	4	11	1	0	0	0	0	1	0	0	0	12456	623	22	3	4168	3	PRDM15	21	43291677	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	28308749	43291677	4838218	71	797											
MICAL3	57553	broad.mit.edu	37	22	18274039	18274039	+	Silent	SNP	C	C	A			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:18274039C>A	uc002zng.4	-	29	6032	c.5679G>T	c.(5677-5679)ctG>ctT	p.L1893L	MICAL3_uc011agl.2_Silent_p.L1809L|MICAL3_uc010grd.2_Silent_p.L9L|MICAL3_uc010gre.2_Non-coding_Transcript	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1893						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ACTCCTGCATCAGCTTGGGGT	0.632													A	18274039	C	A	18274039	2	1	11	1	0	0	0	0	0	0	0	1	9571	813	29	5		5	MICAL3	22	18274039	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08		18274039	33030527	72	798											
NAGA	4668	broad.mit.edu	37	22	42458930	42458930	+	Silent	SNP	C	C	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:42458930C>G	uc003bbw.4	-	6	1403	c.858G>C	c.(856-858)ctG>ctC	p.L286L		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	286					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGATGGTACGCAGGTCTGTGG	0.557													G	42458930	C	G	42458930	2	3	11	1	0	0	0	0	0	0	0	1	10141	697	25	5		5	NAGA	22	42458930	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	24184891	42458930	8845636	73	799											
PKDREJ	10343	broad.mit.edu	37	22	46655208	46655208	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:46655208T>G	uc003bhh.3	-	0	4012	c.4012A>C	c.(4012-4014)Act>Cct	p.T1338P		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1338	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGTCCAAAGTGGTATCAACA	0.398													G	46655208	T	G	46655208	3	3	11	1	0	0	0	0	1	0	0	0	11970	1696	59	5	2753	5	PKDREJ	22	46655208	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	4196278	46655208	4649358	74	800											
NPHP4	261734	broad.mit.edu	37	1	5969224	5969224	+	Silent	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:5969224A>T	uc001alq.2	-	11	1759	c.1491T>A	c.(1489-1491)ccT>ccA	p.P497P	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Intron|NPHP4_uc001alt.2_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	497					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGTCCCACAGGTGAGTTCT	0.597													T	5969224	A	T	5969224	2	4	12	1	0	0	0	0	0	0	0	1	10581	175	7	5		5	NPHP4	1	5969224	Silent	SNP	A	TCGA-06-0126-01A-01D-1490-08		5969224	243281397	1	801											
TNFRSF1B	7133	broad.mit.edu	37	1	12253032	12253032	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:12253032A>C	uc001att.3	+	5	753	c.664A>C	c.(664-666)Aca>Cca	p.T222P	TNFRSF1B_uc001atu.3_Missense_Mutation_p.T27P|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	222					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	p.T222P(2)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GCCAGTGTCCACACGATCCCA	0.637													C	12253032	A	C	12253032	3	2	12	1	0	0	0	0	1	0	0	0	16291	159	6	5	686	5	TNFRSF1B	1	12253032	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	6283808	12253032	236997589	2	802											
THRAP3	9967	broad.mit.edu	37	1	36752347	36752347	+	Silent	SNP	T	T	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:36752347T>C	uc001cae.4	+	3	740	c.516T>C	c.(514-516)tcT>tcC	p.S172S	THRAP3_uc001caf.4_Silent_p.S172S|THRAP3_uc001cag.1_Silent_p.S172S	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	172	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAATCTTCTAAGCGCAAGT	0.527			T	USP6	aneurysmal bone cysts								C	36752347	T	C	36752347	2	2	12	1	0	0	0	0	0	0	0	1	15871	1509	53	4		4	THRAP3	1	36752347	Silent	SNP	T	TCGA-06-0126-01A-01D-1490-08	24499315	36752347	212498274	3	803											
C8A	731	broad.mit.edu	37	1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:57383364G>A	uc001cyo.2	+	10	1862	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	577	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTCCAGGGCGGAAAGTACAG	0.557													A	57383364	G	A	57383364	3	1	12	1	0	0	0	0	1	0	0	0	2416	1116	39	2	1772	2	C8A	1	57383364	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	20631017	57383364	191867257	4	804											
LPAR3	23566	broad.mit.edu	37	1	85331129	85331142	+	Frame_Shift_Del	DEL	ACTTGTATGCGGAG	ACTTGTATGCGGAG	-	rs140283678		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:85331129_85331142delACTTGTATGCGGAG	uc001dkl.2	-	0	701_714	c.662_675delCTCCGCATACAAGT	c.(661-675)tctccgcatacaagtfs	p.S221fs	LPAR3_uc009wcj.1_Frame_Shift_Del_p.S221fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	221					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TGATGGACCCACTTGTATGCGGAGACAAGACGTT	0.509													-	85331142	ACTTGTATGCGGAG	-	85331129	7	5	12	1	0	1	0	1	0	0	0	0	8906	156	6	0	394	0	LPAR3	1	85331129	Frame_Shift_Del	DEL	ACTTGTATGCGGAG	TCGA-06-0126-01A-01D-1490-08	27947765	85331129	163919492	5	805											
SYDE2	84144	broad.mit.edu	37	1	85648703	85648703	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:85648703C>T	uc009wcm.3	-	2	1671	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	SYDE2_uc001dku.4_Missense_Mutation_p.R541Q	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	541					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GCTTAGCTTTCGGCTAAATTC	0.338													T	85648703	C	T	85648703	3	4	12	1	0	0	0	0	1	0	0	0	15433	884	31	2	1982	2	SYDE2	1	85648703	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	317574	85648703	163601918	6	806											
KCNA10	3744	broad.mit.edu	37	1	111060591	111060591	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:111060591C>A	uc001dzt.1	-	0	1207	c.819G>T	c.(817-819)atG>atT	p.M273I		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	273						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TAGACTCCACCATGAAGAAAG	0.532													A	111060591	C	A	111060591	3	1	12	1	0	0	0	0	1	0	0	0	8002	594	21	5	720	5	KCNA10	1	111060591	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	25411888	111060591	138190030	7	807											
FLG2	388698	broad.mit.edu	37	1	152326339	152326339	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:152326339C>T	uc001ezw.4	-	2	3996	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1308							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTTCTGCGAACTGTGGA	0.473													T	152326339	C	T	152326339	3	4	12	1	0	0	0	0	1	0	0	0	5923	768	27	1	3256	1	FLG2	1	152326339	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	41265748	152326339	96924282	8	808											
ETV3L	440695	broad.mit.edu	37	1	157068567	157068567	+	Silent	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:157068567G>T	uc001fqq.2	-	2	702	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GCAAGTGGGGGGATGGCGGCG	0.602													T	157068567	G	T	157068567	2	4	12	1	0	0	0	0	0	0	0	1	5280	1219	43	5		5	ETV3L	1	157068567	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	4742228	157068567	92182054	9	809											
PVRL4	81607	broad.mit.edu	37	1	161043074	161043074	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:161043074C>T	uc001fxo.2	-	7	1548	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	PVRL4_uc010pjy.1_Intron|PVRL4_uc010pjz.1_Intron	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	417					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCTCTCAGCCCTACACTCTCC	0.652													T	161043074	C	T	161043074	3	4	12	1	0	0	0	0	1	0	0	0	12842	681	24	3	291	3	PVRL4	1	161043074	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	3974507	161043074	88207547	10	810											
RGS1	5996	broad.mit.edu	37	1	192547487	192547487	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:192547487C>G	uc001gsi.1	+	3	482	c.416C>G	c.(415-417)gCa>gGa	p.A139G	RGS1_uc010pou.1_Missense_Mutation_p.A139G	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	139	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ATATATAAAGCATTTGTGCAT	0.343													G	192547487	C	G	192547487	3	3	12	1	0	0	0	0	1	0	0	0	13292	710	25	5	430	5	RGS1	1	192547487	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	31504413	192547487	56703134	11	811											
SRD5A2	6716	broad.mit.edu	37	2	31756490	31756490	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr2:31756490T>C	uc002rnw.1	-	3	566	c.495A>G	c.(493-495)atA>atG	p.I165M		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	166					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCTGGCGCAATATATAGTCAC	0.433													C	31756490	T	C	31756490	3	2	12	1	0	0	0	0	1	0	0	0	15138	1396	49	4	278	4	SRD5A2	2	31756490	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08		31756490	211442883	12	812											
TTN	7273	broad.mit.edu	37	2	179452825	179452825	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr2:179452825C>A	uc021vsy.1	-	253	55830	c.55605G>T	c.(55603-55605)atG>atT	p.M18535I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M12230I|TTN_uc021vta.1_Missense_Mutation_p.M12163I|TTN_uc021vtb.1_Missense_Mutation_p.M12038I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19462	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G18534G(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)			TTTTTGGTCTCATTTCCACAA	0.453													A	179452825	C	A	179452825	3	1	12	1	0	0	0	0	1	0	0	0	16732	826	29	5	44902	5	TTN	2	179452825	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	147696335	179452825	63746548	13	813											
CNTN4	152330	broad.mit.edu	37	3	3078881	3078881	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr3:3078881G>T	uc003bpc.3	+	17	2300	c.1961G>T	c.(1960-1962)gGg>gTg	p.G654V	CNTN4_uc003bpb.1_Missense_Mutation_p.G325V|CNTN4_uc021wsg.1_Missense_Mutation_p.G654V|CNTN4_uc003bpd.1_Missense_Mutation_p.G654V|CNTN4_uc003bpe.3_Missense_Mutation_p.G326V|CNTN4_uc003bpf.3_Missense_Mutation_p.G325V|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	654	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTCATTGATGGGAAGACATTC	0.483													T	3078881	G	T	3078881	3	4	12	1	0	0	0	0	1	0	0	0	3643	1232	43	5	2019	5	CNTN4	3	3078881	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		3078881	194943549	14	814											
ABCC5	10057	broad.mit.edu	37	3	183665250	183665250	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr3:183665250C>T	uc003fmg.3	-	22	3441	c.3276G>A	c.(3274-3276)acG>acA	p.T1092T	ABCC5_uc011bqt.2_Silent_p.T620T|ABCC5_uc010hxl.3_Silent_p.T1049T	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1092	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCATCGCACACGTAAACAAAA	0.532													T	183665250	C	T	183665250	2	4	12	1	0	0	0	0	0	0	0	1	56	523	19	1		1	ABCC5	3	183665250	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	180586369	183665250	14357180	15	815											
ADRA2C	152	broad.mit.edu	37	4	3768581	3768581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:3768581G>A	uc003ghm.3	+	0	286	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	83					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CGGGCGCTGCGCGCGCCACAG	0.677													A	3768581	G	A	3768581	3	1	12	1	0	0	0	0	1	0	0	0	339	1087	38	1	250	1	ADRA2C	4	3768581	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		3768581	187385695	16	816											
UGT2B28	54490	broad.mit.edu	37	4	70148376	70148376	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:70148376C>A	uc003hej.3	+	1	868	c.866C>A	c.(865-867)cCt>cAt	p.P289H	UGT2B28_uc010ihr.3_Missense_Mutation_p.P289H	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	289					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAACCCCTACCTAAGGTAAAC	0.383													A	70148376	C	A	70148376	3	1	12	1	0	0	0	0	1	0	0	0	16957	681	24	5	872	5	UGT2B28	4	70148376	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	66379795	70148376	121005900	17	817											
FGB	2244	broad.mit.edu	37	4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:155490927C>T	uc003ioa.4	+	6	1259	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_uc010ipv.3_Missense_Mutation_p.T348M	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	407	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423													T	155490927	C	T	155490927	3	4	12	1	0	0	0	0	1	0	0	0	5831	536	19	1	1246	1	FGB	4	155490927	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	85342551	155490927	35663349	18	818											
GRIA2	2891	broad.mit.edu	37	4	158234012	158234012	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:158234012C>T	uc003ipm.4	+	3	1110	c.651C>T	c.(649-651)aaC>aaT	p.N217N	GRIA2_uc011cit.2_Silent_p.N170N|GRIA2_uc021xtr.1_Silent_p.N217N|GRIA2_uc003ipl.4_Silent_p.N217N|GRIA2_uc003ipk.4_Silent_p.N170N|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	217					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.N217N(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)	ATAAAGTAAACGACATTGTAG	0.373													T	158234012	C	T	158234012	2	4	12	1	0	0	0	0	0	0	0	1	6768	535	19	1		1	GRIA2	4	158234012	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	2743085	158234012	32920264	19	819											
RAPGEF2	9693	broad.mit.edu	37	4	160251077	160251077	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:160251077T>G	uc003iqg.4	+	5	1044	c.734T>G	c.(733-735)gTt>gGt	p.V245G		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	245					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATGCAAAAAGTTGAAGAGGAA	0.398													G	160251077	T	G	160251077	3	3	12	1	0	0	0	0	1	0	0	0	13044	1725	60	5	756	5	RAPGEF2	4	160251077	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08	2017065	160251077	30903199	20	820											
SORBS2	8470	broad.mit.edu	37	4	186545050	186545050	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:186545050G>A	uc003iyg.3	-	12	1895	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.P607P|SORBS2_uc003iyl.3_Silent_p.P507P|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.P411P|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	507						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATGCGTGTGGGCACCATGT	0.572													A	186545050	G	A	186545050	2	1	12	1	0	0	0	0	0	0	0	1	14928	1335	47	3		3	SORBS2	4	186545050	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	26293973	186545050	4609226	21	821											
DNAH5	1767	broad.mit.edu	37	5	13916467	13916467	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:13916467A>G	uc003jfd.2	-	8	1229	c.1187T>C	c.(1186-1188)cTg>cCg	p.L396P	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	396	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					CTTTACAAACAGAGATGTGAT	0.323									Kartagener syndrome				G	13916467	A	G	13916467	3	3	12	1	0	0	0	0	1	0	0	0	4604	188	7	4	12971	4	DNAH5	5	13916467	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08		13916467	166998793	22	822											
HEATR7B2	133558	broad.mit.edu	37	5	41049516	41049516	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:41049516G>T	uc003jmj.4	-	13	1857	c.1367C>A	c.(1366-1368)aCt>aAt	p.T456N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.T11N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	456							binding	p.T456N(4)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TACCACAAAAGTCAGGATCCT	0.458													T	41049516	G	T	41049516	3	4	12	1	0	0	0	0	1	0	0	0	7035	1029	36	5	3506	5	HEATR7B2	5	41049516	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	27133049	41049516	139865744	23	823											
OR2Y1	134083	broad.mit.edu	37	5	180166818	180166818	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:180166818G>A	uc003mmf.1	-	0	241	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGATCAGGAGCTGGGGCACG	0.587													A	180166818	G	A	180166818	3	1	12	1	0	0	0	0	1	0	0	0	11035	971	34	3	698	3	OR2Y1	5	180166818	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	139117302	180166818	748442	24	824											
SNRNP48	154007	broad.mit.edu	37	6	7602909	7602909	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:7602909G>T	uc003mxr.3	+	5	708	c.649G>T	c.(649-651)Gat>Tat	p.D217Y	SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_5'UTR	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	217					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGAAGTACGAGATTATAAAAG	0.308													T	7602909	G	T	7602909	3	4	12	1	0	0	0	0	1	0	0	0	14857	942	33	5	671	5	SNRNP48	6	7602909	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		7602909	163512158	25	825											
LGSN	51557	broad.mit.edu	37	6	63990671	63990671	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:63990671C>T	uc003peh.3	-	3	819	c.785G>A	c.(784-786)aGg>aAg	p.R262K	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	262					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CTGACCAGGCCTGGTAGAGGA	0.433													T	63990671	C	T	63990671	3	4	12	1	0	0	0	0	1	0	0	0	8759	681	24	3	748	3	LGSN	6	63990671	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	56387762	63990671	107124396	26	826											
KLHL7	55975	broad.mit.edu	37	7	23163411	23163411	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:23163411G>A	uc003svs.4	+	1	429	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	KLHL7_uc003svr.4_Missense_Mutation_p.V24M|KLHL7_uc011jys.2_Intron|KLHL7_uc011jyt.2_Intron|KLHL7_uc003svt.3_5'UTR|KLHL7_uc003svp.3_Missense_Mutation_p.V24M|KLHL7_uc003svq.3_Missense_Mutation_p.V46M|KLHL7_uc011jyu.2_Missense_Mutation_p.V24M	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	46	BTB.					Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTGTGACGTGATCCTCAT	0.373													A	23163411	G	A	23163411	3	1	12	1	0	0	0	0	1	0	0	0	8394	1145	40	1	142	1	KLHL7	7	23163411	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		23163411	135975252	27	827											
MRPL32	64983	broad.mit.edu	37	7	42977165	42977165	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:42977165C>T	uc003tia.3	+	2	604	c.557C>T	c.(556-558)aCc>aTc	p.T186I	MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	186					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	p.F185F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TCCTGGTTCACCCAGAATTGA	0.418													T	42977165	C	T	42977165	3	4	12	1	0	0	0	0	1	0	0	0	9795	507	18	3	567	3	MRPL32	7	42977165	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	19813754	42977165	116161498	28	828											
WBSCR17	64409	broad.mit.edu	37	7	70886068	70886068	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:70886068C>T	uc003tvy.3	+	4	939	c.939C>T	c.(937-939)gcC>gcT	p.A313A	WBSCR17_uc003tvz.3_Silent_p.A12A	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	313						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D312D(2)|p.A313S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTGGGACGCCGGAGACCCTT	0.597													T	70886068	C	T	70886068	2	4	12	1	0	0	0	0	0	0	0	1	17261	639	23	2		2	WBSCR17	7	70886068	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	27908903	70886068	88252595	29	829											
GRM3	2913	broad.mit.edu	37	7	86468552	86468552	+	Silent	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:86468552C>T	uc003uid.3	+	3	2821	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.D446D|GRM3_uc010leh.3_Silent_p.D166D	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	574					synaptic transmission	integral to plasma membrane		p.E573K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGTGGGAAGACGCCTGGGCCA	0.498													T	86468552	C	T	86468552	2	4	12	1	0	0	0	0	0	0	0	1	6798	535	19	1		1	GRM3	7	86468552	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	15582484	86468552	72670111	30	830											
COL1A2	1278	broad.mit.edu	37	7	94054953	94054953	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:94054953G>A	uc003ung.1	+	42	3284	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	938					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.R938H(4)|p.G937S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCCAGGTCGCGATGGTCAA	0.488										HNSCC(75;0.22)			A	94054953	G	A	94054953	3	1	12	1	0	0	0	0	1	0	0	0	3678	1087	38	1	2983	1	COL1A2	7	94054953	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	7586401	94054953	65083710	31	831											
FZD6	8323	broad.mit.edu	37	8	104342147	104342147	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:104342147G>A	uc003ylh.3	+	5	2096	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	FZD6_uc011lhn.2_Silent_p.A570A|FZD6_uc003ylj.3_Silent_p.A602A|FZD6_uc011lho.2_Silent_p.A297A|FZD6_uc011lhp.2_Silent_p.A547A	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	602					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGGTGAAAGCGGACGGAGCTA	0.512													A	104342147	G	A	104342147	2	1	12	1	0	0	0	0	0	0	0	1	6134	1103	39	2		2	FZD6	8	104342147	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08		104342147	42021875	32	832											
C8orf76	84933	broad.mit.edu	37	8	124243741	124243743	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:124243741_124243743delAAG	uc003yqc.2	-	3	664_666	c.612_614delCTT	c.(610-615)ttcttt>ttt	p.204_205FF>F	C8orf76_uc003yqd.3_In_Frame_Del_p.172_173FF>F	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	204							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAGTGTGGAAAGAAGGATTTGA	0.433													-	124243743	AAG	-	124243741	7	5	12	1	0	1	0	1	0	0	0	0	2437	14	1	0	540	0	C8orf76	8	124243741	In_Frame_Del	DEL	AAG	TCGA-06-0126-01A-01D-1490-08	19901594	124243741	22120281	33	833											
EPPK1	83481	broad.mit.edu	37	8	144940328	144940328	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:144940328C>T	uc003zaa.1	-	0	7107	c.7094G>A	c.(7093-7095)cGc>cAc	p.R2365H		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2365						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R2364Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTAGCCGCGCCGGTAGGC	0.692													T	144940328	C	T	144940328	3	4	12	1	0	0	0	0	1	0	0	0	5190	768	27	1	172	1	EPPK1	8	144940328	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	20696587	144940328	1423694	34	834											
TEK	7010	broad.mit.edu	37	9	27158007	27158007	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:27158007T>A	uc011lno.2	+	1	673	c.231T>A	c.(229-231)gaT>gaA	p.D77E	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.D77E|TEK_uc003zqi.4_Missense_Mutation_p.D77E|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.D54E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	77	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.D77E(2)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTACTCAAGATGTGACCAGAG	0.493													A	27158007	T	A	27158007	3	1	12	1	0	0	0	0	1	0	0	0	15748	1461	51	5	237	5	TEK	9	27158007	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08		27158007	114055424	35	835											
TGFBR1	7046	broad.mit.edu	37	9	101908855	101908855	+	Missense_Mutation	SNP	G	G	A	rs146549837		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:101908855G>A	uc004azc.3	+	6	1295	c.1219G>A	c.(1219-1221)Gta>Ata	p.V407I	TGFBR1_uc004azd.3_Missense_Mutation_p.V330I|TGFBR1_uc004aze.3_Missense_Mutation_p.V411I|TGFBR1_uc011lvc.2_Missense_Mutation_p.V338I|5S_rRNA_uc022bkv.1_5'Flank	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	407	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATGGGCTTAGTATTCTGGGA	0.398													A	101908855	G	A	101908855	3	1	12	1	0	0	0	0	1	0	0	0	15818	1029	36	3	1245	3	TGFBR1	9	101908855	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	74750848	101908855	39304576	36	836											
ORM1	5005	broad.mit.edu	37	9	117092750	117092750	+	Silent	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:117092750C>A	uc004bil.3	+	1	267	c.151C>A	c.(151-153)Cga>Aga	p.R51R	ORM1_uc011lxo.2_Intron	NM_000608	NP_000599	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 2 (ORM2), mRNA.	51					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	ATCGGCCTTTCGAAACGAGGA	0.498													A	117092750	C	A	117092750	2	1	12	1	0	0	0	0	0	0	0	1	11267	876	31	5		5	ORM1	9	117092750	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	15183895	117092750	24120681	37	837											
THNSL1	79896	broad.mit.edu	37	10	25313145	25313145	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:25313145G>A	uc001isi.4	+	2	1322	c.993G>A	c.(991-993)agG>agA	p.R331R	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Silent_p.R331R	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	331					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CTCCTGTCAGGCACCTTTCAG	0.433													A	25313145	G	A	25313145	2	1	12	1	0	0	0	0	0	0	0	1	15859	1194	42	3		3	THNSL1	10	25313145	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08		25313145	110221602	38	838											
CNNM2	54805	broad.mit.edu	37	10	104836896	104836896	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:104836896A>T	uc001kwm.3	+	7	2750	c.2587A>T	c.(2587-2589)Agt>Tgt	p.S863C	CNNM2_uc001kwn.3_Missense_Mutation_p.S841C	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	863					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTGACGCACAGTAAGGCCAA	0.617													T	104836896	A	T	104836896	3	4	12	1	0	0	0	0	1	0	0	0	3613	188	7	5	2659	5	CNNM2	10	104836896	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	79523751	104836896	30697851	39	839											
SMC3	9126	broad.mit.edu	37	10	112350834	112350834	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:112350834A>G	uc001kze.3	+	16	1882	c.1756A>G	c.(1756-1758)Act>Gct	p.T586A		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	586	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGAGAGGTTACTTTTCTGCC	0.328													G	112350834	A	G	112350834	3	3	12	1	0	0	0	0	1	0	0	0	14784	391	14	4	1822	4	SMC3	10	112350834	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	7513938	112350834	23183913	40	840											
RAG2	5897	broad.mit.edu	37	11	36614899	36614899	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:36614899C>A	uc021qge.1	-	0	820	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	RAG2_uc021qgc.1_Missense_Mutation_p.V274F|RAG2_uc021qgd.1_Missense_Mutation_p.V274F|RAG2_uc001mwv.4_Missense_Mutation_p.V274F|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	274					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TAGCCACCAACAATAACAAAT	0.428									Familial Hemophagocytic Lymphohistiocytosis				A	36614899	C	A	36614899	3	1	12	1	0	0	0	0	1	0	0	0	13005	478	17	5	767	5	RAG2	11	36614899	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		36614899	98391617	41	841											
PPME1	51400	broad.mit.edu	37	11	73964552	73964552	+	Silent	SNP	T	T	C			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:73964552T>C	uc001ouw.3	+	13	1257	c.1158T>C	c.(1156-1158)tgT>tgC	p.C386C	PPME1_uc009yty.3_Silent_p.C270C|PPME1_uc001oux.3_Silent_p.C199C|P4HA3_uc001ouy.4_Intron|SNORA7_uc021qnf.1_5'Flank	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.	386					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTCCTGGCTGTTAGTGACCTG	0.498													C	73964552	T	C	73964552	2	2	12	1	0	0	0	0	0	0	0	1	12347	1731	60	4		4	PPME1	11	73964552	Silent	SNP	T	TCGA-06-0126-01A-01D-1490-08	37349653	73964552	61041964	42	842											
HMBS	3145	broad.mit.edu	37	11	118962836	118962836	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:118962836T>G	uc001puz.1	+	10	770	c.613_splice	c.e10-1	p.I205_splice	HMBS_uc009zao.2_Splice_Site_p.I150_splice|HMBS_uc001pva.1_Splice_Site_p.I205_splice|HMBS_uc001pve.1_Splice_Site_p.I188_splice|HMBS_uc001pvf.1_Splice_Site_p.I188_splice	NM_000190	NP_001019553	P08397	HEM3_HUMAN	Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA.	205					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CCTCCACAGATCCTGCACCCT	0.537													G	118962836	T	G	118962836	3	3	12	1	0	0	0	0	1	0	0	0	7219	1449	50	5	652	5	HMBS	11	118962836	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08	44998284	118962836	16043680	43	843											
ANO2	57101	broad.mit.edu	37	12	5963280	5963280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:5963280G>A	uc001qnm.2	-	3	622	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ANO2_uc021qtt.1_Missense_Mutation_p.R188W	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	188						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCGTGTATCCGGACAAAGATG	0.458													A	5963280	G	A	5963280	3	1	12	1	0	0	0	0	1	0	0	0	697	1115	39	2	2538	2	ANO2	12	5963280	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		5963280	127888615	44	844											
LUM	4060	broad.mit.edu	37	12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:91497971G>A	uc001tbm.3	-	2	1377	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	330					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R330H(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGCAACACGTAGACATTCA	0.383													A	91497971	G	A	91497971	3	1	12	1	0	0	0	0	1	0	0	0	9085	1145	40	1	32	1	LUM	12	91497971	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	85534691	91497971	42353924	45	845											
DAO	1610	broad.mit.edu	37	12	109288048	109288048	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:109288048G>A	uc001tnr.4	+	6	1188	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	DAO_uc001tnq.4_Missense_Mutation_p.E107K|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	173					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGTGGCAAGAGAAGGCGCAGA	0.582													A	109288048	G	A	109288048	3	1	12	1	0	0	0	0	1	0	0	0	4231	943	33	3	539	3	DAO	12	109288048	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	17790077	109288048	24563847	46	846											
PCDH9	5101	broad.mit.edu	37	13	67800099	67800099	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr13:67800099A>T	uc001vik.3	-	1	3166	c.2474T>A	c.(2473-2475)gTg>gAg	p.V825E	PCDH9_uc001vil.3_Missense_Mutation_p.V825E|PCDH9_uc010thl.2_Missense_Mutation_p.V825E|PCDH9_uc001vin.3_Missense_Mutation_p.V825E	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	825					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAATGACCACCATGGCACC	0.517													T	67800099	A	T	67800099	3	4	12	1	0	0	0	0	1	0	0	0	11518	159	6	5	1255	5	PCDH9	13	67800099	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08		67800099	47369779	47	847											
OR4N5	390437	broad.mit.edu	37	14	20612258	20612258	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr14:20612258C>T	uc010tla.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GGCCTTTGACCGCTACATCGC	0.483													T	20612258	C	T	20612258	3	4	12	1	0	0	0	0	1	0	0	0	11079	652	23	2	366	2	OR4N5	14	20612258	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		20612258	86737282	48	848											
CDCA4	55038	broad.mit.edu	37	14	105477589	105477589	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr14:105477589G>A	uc021sep.1	-	0	678	c.678C>T	c.(676-678)tcC>tcT	p.S226S	CDCA4_uc001yqa.2_Silent_p.S226S|CDCA4_uc001yqb.2_Silent_p.S226S	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	226						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CGCCCAGGTCGGACTTGCAGC	0.672													A	105477589	G	A	105477589	2	1	12	1	0	0	0	0	0	0	0	1	3088	1103	39	2		2	CDCA4	14	105477589	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	84865331	105477589	1871951	49	849											
RYR3	6263	broad.mit.edu	37	15	34130001	34130002	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:34130001_34130002insA	uc001zhi.3	+	88	11890_11891	c.11820_11821insA	c.(11818-11823)tccaaafs	p.S3940fs	RYR3_uc010bar.3_Frame_Shift_Ins_p.S3935fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3940	EF-hand.				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)		GAATTATCTCCAAAAAAGAATT	0.391													A	34130002	-	A	34130001	7	5	12	1	0	1	1	0	0	0	0	0	13770	581	21	0	12174	0	RYR3	15	34130001	Frame_Shift_Ins	INS	-	TCGA-06-0126-01A-01D-1490-08		34130001	68401391	50	850											
EIF2AK4	440275	broad.mit.edu	37	15	40282488	40282488	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:40282488G>A	uc001zkm.1	+	15	2591	c.2541G>A	c.(2539-2541)cgG>cgA	p.R847R	EIF2AK4_uc010bbj.1_Silent_p.R548R|EIF2AK4_uc001zkn.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	847	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TGATTCACCGGGATTTGAAGC	0.378													A	40282488	G	A	40282488	2	1	12	1	0	0	0	0	0	0	0	1	4999	1219	43	3		3	EIF2AK4	15	40282488	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	6152487	40282488	62248904	51	851											
NEDD4	4734	broad.mit.edu	37	15	56208834	56208834	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:56208834C>T	uc002adj.3	-	0	496	c.196G>A	c.(196-198)Gtt>Att	p.V66I	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.V66I|NEDD4_uc010ugj.2_Missense_Mutation_p.V66I|NEDD4_uc010bfm.3_Missense_Mutation_p.V66I|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	66					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGAGACTGAACGTTTTCCTTT	0.408													T	56208834	C	T	56208834	3	4	12	1	0	0	0	0	1	0	0	0	10310	536	19	1	3863	1	NEDD4	15	56208834	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	15926346	56208834	46322558	52	852											
SCNN1G	6340	broad.mit.edu	37	16	23226531	23226531	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:23226531G>A	uc002dlm.1	+	12	1830	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	564					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.R564H(2)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCCCGCCGCCAGTGGCAG	0.587													A	23226531	G	A	23226531	3	1	12	1	0	0	0	0	1	0	0	0	13930	1087	38	1	1737	1	SCNN1G	16	23226531	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		23226531	67128222	53	853											
CHD9	80205	broad.mit.edu	37	16	53289572	53289572	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:53289572A>G	uc002ehb.3	+	17	4254	c.4090A>G	c.(4090-4092)Att>Gtt	p.I1364V	CHD9_uc002egy.3_Missense_Mutation_p.I1364V|CHD9_uc002ehc.3_Missense_Mutation_p.I1364V|CHD9_uc002ehf.3_Missense_Mutation_p.I478V|CHD9_uc002ehg.2_Missense_Mutation_p.I478V|CHD9_uc002ehd.2_Missense_Mutation_p.I890V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1364					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTATGGTGCTATTATGGAGGA	0.348													G	53289572	A	G	53289572	3	3	12	1	0	0	0	0	1	0	0	0	3332	449	16	4	4160	4	CHD9	16	53289572	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	30063041	53289572	37065181	54	854											
CDH16	1014	broad.mit.edu	37	16	66946751	66946751	+	Silent	SNP	G	G	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:66946751G>T	uc002eql.3	-	9	1292	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	CDH16_uc010cdy.3_Silent_p.P366P|CDH16_uc021tjx.1_Silent_p.P366P|CDH16_uc002eqm.3_Silent_p.P269P	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	366	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGGGGAGCCGGGGGCATCTG	0.612													T	66946751	G	T	66946751	2	4	12	1	0	0	0	0	0	0	0	1	3101	1103	39	5		5	CDH16	16	66946751	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	13657179	66946751	23408002	55	855											
PLCG2	5336	broad.mit.edu	37	16	81968079	81968079	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:81968079G>A	uc002fgt.3	+	25	2963	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	929					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.I928I(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CATCGCCATCGAGCTCTCTGA	0.478													A	81968079	G	A	81968079	3	1	12	1	0	0	0	0	1	0	0	0	12036	1059	37	2	2883	2	PLCG2	16	81968079	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	15021328	81968079	8386674	56	856											
HEXIM2	124790	broad.mit.edu	37	17	43246862	43246862	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:43246862C>T	uc002iik.1	-	1		c.1358G>A			HEXIM2_uc002iih.1_Nonsense_Mutation_p.R183*|HEXIM2_uc010daf.1_Nonsense_Mutation_p.R205*|HEXIM2_uc002iii.1_Nonsense_Mutation_p.R183*|HEXIM2_uc002iij.1_Nonsense_Mutation_p.R183*			Q96MH2	HEXI2_HUMAN	Homo sapiens cDNA FLJ39466 fis, clone PROST2012353.						negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						TGGGCGGGGCCGAGCGCACGG	0.647													T	43246862	C	T	43246862	4	4	12	1	0	0	0	0	0	1	0	0	7077	644	23	2	553	2	HEXIM2	17	43246862	Nonsense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		43246862	37948348	57	857											
TEX2	55852	broad.mit.edu	37	17	62272375	62272375	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:62272375C>A	uc002jed.3	-	2	1876	c.1725G>T	c.(1723-1725)gaG>gaT	p.E575D	TEX2_uc002jec.3_Missense_Mutation_p.E575D|TEX2_uc002jee.3_Missense_Mutation_p.E575D	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	575					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGGTTCCACCCTCAAGTCGAA	0.423													A	62272375	C	A	62272375	3	1	12	1	0	0	0	0	1	0	0	0	15778	680	24	5	1719	5	TEX2	17	62272375	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	19025513	62272375	18922835	58	858											
MUC16	94025	broad.mit.edu	37	19	9085127	9085127	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:9085127A>G	uc002mkp.3	-	0	6892	c.6688T>C	c.(6688-6690)Tcc>Ccc	p.S2230P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2230	Ser-rich.|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						GCTACTGTGGACAAGCCAGGT	0.488													G	9085127	A	G	9085127	3	3	12	1	0	0	0	0	1	0	0	0	9973	275	10	4	37171	4	MUC16	19	9085127	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08		9085127	50043856	59	859											
OR7G2	390882	broad.mit.edu	37	19	9213088	9213088	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:9213088A>T	uc010xkk.2	-	0	895	c.895T>A	c.(895-897)Tat>Aat	p.Y299N		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AACACAGAATACATCACTGAA	0.453													T	9213088	A	T	9213088	3	4	12	1	0	0	0	0	1	0	0	0	11223	391	14	5	144	5	OR7G2	19	9213088	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	127961	9213088	49915895	60	860											
PKN1	5585	broad.mit.edu	37	19	14574778	14574778	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:14574778C>T	uc002myp.3	+	10	1802	c.1634C>T	c.(1633-1635)aCg>aTg	p.T545M	PKN1_uc002myq.3_Missense_Mutation_p.T551M	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	545					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCCCGGACCACGGGGTAAGGA	0.672													T	14574778	C	T	14574778	3	4	12	1	0	0	0	0	1	0	0	0	11979	536	19	1	1719	1	PKN1	19	14574778	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	5361690	14574778	44554205	61	861											
TMEM59L	25789	broad.mit.edu	37	19	18731283	18731283	+	Silent	SNP	G	G	A			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:18731283G>A	uc002njy.4	+	7	1053	c.966G>A	c.(964-966)ccG>ccA	p.P322P		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	322						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						ACCCGCCGCCGTCCCACGCCT	0.642													A	18731283	G	A	18731283	2	1	12	1	0	0	0	0	0	0	0	1	16183	1132	40	1		1	TMEM59L	19	18731283	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	4156505	18731283	40397700	62	862											
ZNF135	7694	broad.mit.edu	37	19	58579144	58579144	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:58579144T>G	uc002qrg.3	+	3	1367	c.1364T>G	c.(1363-1365)aTt>aGt	p.I455S	ZNF135_uc002qre.3_Missense_Mutation_p.I431S|ZNF135_uc002qrf.3_Missense_Mutation_p.I389S|ZNF135_uc010yhq.2_Missense_Mutation_p.I443S|ZNF135_uc010yhr.2_Missense_Mutation_p.I252S|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	443					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATCGGAGGATTCACACAGGA	0.547													G	58579144	T	G	58579144	3	3	12	1	0	0	0	0	1	0	0	0	17722	1493	52	5	1495	5	ZNF135	19	58579144	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08	39847861	58579144	549839	63	863											
ABCG1	9619	broad.mit.edu	37	21	43708133	43708133	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr21:43708133C>T	uc011aev.2	+	8	1215	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	ABCG1_uc002zam.3_Missense_Mutation_p.R348W|ABCG1_uc002zan.3_Missense_Mutation_p.R372W|ABCG1_uc002zao.3_Missense_Mutation_p.R367W|ABCG1_uc002zap.3_Missense_Mutation_p.R370W|ABCG1_uc002zaq.3_Missense_Mutation_p.R370W|ABCG1_uc002zar.3_Missense_Mutation_p.R381W|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	370					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			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)	TCTTTGGCACCGGCCCTCTGA	0.577													T	43708133	C	T	43708133	3	4	12	1	0	0	0	0	1	0	0	0	68	643	23	2	1310	2	ABCG1	21	43708133	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		43708133	4421762	64	864											
SREBF2	6721	broad.mit.edu	37	22	42276831	42276831	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr22:42276831C>T	uc003bbi.3	+	9	2042	c.1873C>T	c.(1873-1875)Cgc>Tgc	p.R625C	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	625					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAACGTGATCCGCTACAGCCT	0.647													T	42276831	C	T	42276831	3	4	12	1	0	0	0	0	1	0	0	0	15141	652	23	2	1911	2	SREBF2	22	42276831	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		42276831	9027735	65	865											
SLC45A1	50651	broad.mit.edu	37	1	8403928	8403928	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:8403928C>T	uc001apb.3	+	7	2102	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	SLC45A1_uc001apc.3_Missense_Mutation_p.A399V	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	701					carbohydrate transport	integral to membrane	symporter activity	p.A701V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACCTCGGCCGTGGGCAGT	0.617													T	8403928	C	T	8403928	3	4	13	1	0	0	0	0	1	0	0	0	14640	739	26	3	2132	3	SLC45A1	1	8403928	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		8403928	240846693	1	866											
ZNF644	84146	broad.mit.edu	37	1	91405171	91405171	+	Silent	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:91405171G>C	uc001dnw.3	-	2	2023	c.1740C>G	c.(1738-1740)tcC>tcG	p.S580S	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Silent_p.S580S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGATTTTTTGGATGATCCTA	0.383													C	91405171	G	C	91405171	2	2	13	1	0	0	0	0	0	0	0	1	18057	1335	47	5		5	ZNF644	1	91405171	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	83001243	91405171	157845450	2	867											
ANKRD35	148741	broad.mit.edu	37	1	145558859	145558859	+	Missense_Mutation	SNP	G	G	A	rs150752253	byFrequency	TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:145558859G>A	uc001eob.1	+	6	586	c.478G>A	c.(478-480)Gca>Aca	p.A160T	ANKRD35_uc010oyx.1_Missense_Mutation_p.A3T	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	160								p.A160T(2)		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)					CCTGATGATCGCATCGCTGGG	0.577													A	145558859	G	A	145558859	3	1	13	1	0	0	0	0	1	0	0	0	664	1087	38	1	504	1	ANKRD35	1	145558859	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	54153688	145558859	103691762	3	868											
SLC45A3	85414	broad.mit.edu	37	1	205632669	205632669	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:205632669G>A	uc001hda.1	-	2	589	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	84					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGCCGGCGGCGGCCATAGCGT	0.637			T	"ETV1, ETV5, ELK4, ERG"	prostate								A	205632669	G	A	205632669	3	1	13	1	0	0	0	0	1	0	0	0	14642	1116	39	2	1423	2	SLC45A3	1	205632669	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	60073810	205632669	43617952	4	869											
FAM177B	400823	broad.mit.edu	37	1	222919976	222919976	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:222919976A>G	uc001hnt.3	+	2	355	c.89A>G	c.(88-90)gAc>gGc	p.D30G	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	30										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						CATTTTGTTGACGGAGACATC	0.408													G	222919976	A	G	222919976	3	3	13	1	0	0	0	0	1	0	0	0	5502	275	10	4	91	4	FAM177B	1	222919976	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	17287307	222919976	26330645	5	870											
EXO1	9156	broad.mit.edu	37	1	242048792	242048792	+	Silent	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:242048792A>G	uc021plj.1	+	12	2702	c.2388A>G	c.(2386-2388)aaA>aaG	p.K796K	EXO1_uc001hzh.3_Silent_p.K796K|EXO1_uc009xgq.3_Silent_p.K795K|EXO1_uc021plk.1_Silent_p.K796K	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	796	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGCTCTGGAAAAACTTTGGAT	0.418								Editing and processing nucleases					G	242048792	A	G	242048792	2	3	13	1	0	0	0	0	0	0	0	1	5300	11	1	4		4	EXO1	1	242048792	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	19128816	242048792	7201829	6	871											
WDR43	23160	broad.mit.edu	37	2	29158460	29158460	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:29158460C>T	uc002rmo.2	+	11	1543	c.1511C>T	c.(1510-1512)cCg>cTg	p.P504L		NM_015131	NP_055946	Q15061	WDR43_HUMAN	Homo sapiens WD repeat domain 43 (WDR43), mRNA.	504						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACTATTATTCCGTTGTTACAA	0.328													T	29158460	C	T	29158460	3	4	13	1	0	0	0	0	1	0	0	0	17292	652	23	2	1557	2	WDR43	2	29158460	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		29158460	214040913	7	872											
THADA	63892	broad.mit.edu	37	2	43804328	43804328	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:43804328A>T	uc002rsw.4	-	9	1222	c.870T>A	c.(868-870)ttT>ttA	p.F290L	THADA_uc002rsx.4_Missense_Mutation_p.F290L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.F290L|THADA_uc002rtc.4_Missense_Mutation_p.F290L|THADA_uc002rtd.3_Missense_Mutation_p.F290L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	290							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCTGCTCATAAACCACTCGG	0.478											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	43804328	A	T	43804328	3	4	13	1	0	0	0	0	1	0	0	0	15837	359	13	5	5107	5	THADA	2	43804328	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	14645868	43804328	199395045	8	873											
SLC3A1	6519	broad.mit.edu	37	2	44528234	44528234	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:44528234G>C	uc002ruc.4	+	5	1182	c.1104G>C	c.(1102-1104)atG>atC	p.M368I	SLC3A1_uc002rty.3_Missense_Mutation_p.M368I|SLC3A1_uc002rtz.2_Missense_Mutation_p.M368I|SLC3A1_uc002rua.3_Missense_Mutation_p.M368I|SLC3A1_uc002rub.2_Missense_Mutation_p.M368I|SLC3A1_uc002rud.4_Missense_Mutation_p.M90I|SLC3A1_uc002rue.4_5'Flank	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	368					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGCAGACCATGGACCAATACA	0.532													C	44528234	G	C	44528234	3	2	13	1	0	0	0	0	1	0	0	0	14626	1348	47	5	1126	5	SLC3A1	2	44528234	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	723906	44528234	198671139	9	874											
ACVR1	90	broad.mit.edu	37	2	158626971	158626971	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:158626971G>A	uc002tzn.3	-	6	1129	c.699C>T	c.(697-699)gcC>gcT	p.A233A	ACVR1_uc002tzm.3_Silent_p.A233A|ACVR1_uc010fog.2_Silent_p.A233A	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	233	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGATCTTCACGGCAACATTCT	0.463													A	158626971	G	A	158626971	2	1	13	1	0	0	0	0	0	0	0	1	220	1103	39	2		2	ACVR1	2	158626971	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	114098737	158626971	84572402	10	875											
TTN	7273	broad.mit.edu	37	2	179528601	179528601	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:179528601G>A	uc021vsy.1	-						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Silent_p.R277R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			CTTTCTCTTCGCGGATAACCT	0.423													A	179528601	G	A	179528601	2	1	13	1	0	0	0	0	0	0	0	1	16732	1102	38	1		1	TTN	2	179528601	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	20901630	179528601	63670772	11	876											
TTN	7273	broad.mit.edu	37	2	179575886	179575886	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:179575886A>C	uc021vsy.1	-	93	24570	c.24345T>G	c.(24343-24345)aaT>aaG	p.N8115K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4776K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9042	Ig-like 63.						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)			TTTTAAAAATATTGAGTGTGG	0.448													C	179575886	A	C	179575886	3	2	13	1	0	0	0	0	1	0	0	0	16732	446	16	5	76516	5	TTN	2	179575886	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	47285	179575886	63623487	12	877											
NCKAP1	10787	broad.mit.edu	37	2	183860521	183860521	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:183860521T>C	uc002upc.3	-	6	1051	c.649A>G	c.(649-651)Agg>Ggg	p.R217G	NCKAP1_uc002upb.3_Missense_Mutation_p.R223G	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	217					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAAAGATTCCTTCGAGGATAT	0.373													C	183860521	T	C	183860521	3	2	13	1	0	0	0	0	1	0	0	0	10221	1608	56	4	2837	4	NCKAP1	2	183860521	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	4284635	183860521	59338852	13	878											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	13	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	25252591	209113112	34086261	14	879											
BCS1L	617	broad.mit.edu	37	2	219527689	219527689	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:219527689C>T	uc002vip.3	+	7	1319	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	BCS1L_uc002viq.3_Missense_Mutation_p.R325C|BCS1L_uc010fvu.3_Missense_Mutation_p.R325C|BCS1L_uc010fvv.3_Missense_Mutation_p.R325C|BCS1L_uc002vis.3_Missense_Mutation_p.R325C|BCS1L_uc021vwz.1_Missense_Mutation_p.R325C	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	325					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGAGGCCCGCATCGTGTT	0.577													T	219527689	C	T	219527689	3	4	13	1	0	0	0	0	1	0	0	0	1389	652	23	2	995	2	BCS1L	2	219527689	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	10414577	219527689	23671684	15	880											
ANO7	50636	broad.mit.edu	37	2	242147068	242147068	+	Missense_Mutation	SNP	G	G	A	rs137878201		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:242147068G>A	uc002wax.2	+	10	1325	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	408						cell junction|chloride channel complex|cytosol	chloride channel activity	p.S407S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCTCTCCAGCGCCTGTGCCCT	0.622													A	242147068	G	A	242147068	3	1	13	1	0	0	0	0	1	0	0	0	702	1087	38	1	1336	1	ANO7	2	242147068	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	22619379	242147068	1052305	16	881											
FGD5	152273	broad.mit.edu	37	3	14862089	14862089	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:14862089A>G	uc003bzc.3	+	0	1621	c.1511A>G	c.(1510-1512)gAg>gGg	p.E504G	FGD5_uc011avk.2_Missense_Mutation_p.E504G	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	504					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACCGGACCTGAGGCGGGCTCG	0.637													G	14862089	A	G	14862089	3	3	13	1	0	0	0	0	1	0	0	0	5836	304	11	4	1513	4	FGD5	3	14862089	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08		14862089	183160341	17	882											
KALRN	8997	broad.mit.edu	37	3	124438292	124438292	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:124438292T>C	uc003ehg.3	+	59	9063	c.8936T>C	c.(8935-8937)gTc>gCc	p.V2979A	KALRN_uc003ehk.3_Missense_Mutation_p.V1282A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2978					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			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						AGCTACATTGTCAACCGGGTG	0.502													C	124438292	T	C	124438292	3	2	13	1	0	0	0	0	1	0	0	0	7975	1667	58	4	9330	4	KALRN	3	124438292	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	109576203	124438292	73584138	18	883											
COL6A5	256076	broad.mit.edu	37	3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:130174391C>T	uc010htj.1	+	36	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.T263M|COL6A5_uc010htk.1_Missense_Mutation_p.T263M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2224	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353													T	130174391	C	T	130174391	3	4	13	1	0	0	0	0	1	0	0	0	3702	536	19	1	6813	1	COL6A5	3	130174391	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	5736099	130174391	67848039	19	884											
ATR	545	broad.mit.edu	37	3	142188272	142188272	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:142188272G>A	uc003eux.4	-	37	6581	c.6459C>T	c.(6457-6459)caC>caT	p.H2153H	ATR_uc003euy.1_Silent_p.H39H	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2153	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAACTTCATCGTGAGAATGAC	0.343								Other conserved DNA damage response genes					A	142188272	G	A	142188272	2	1	13	1	0	0	0	0	0	0	0	1	1204	1136	40	1		1	ATR	3	142188272	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	12013881	142188272	55834158	20	885											
ABCC5	10057	broad.mit.edu	37	3	183700632	183700632	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:183700632C>G	uc003fmg.3	-	5	920	c.755G>C	c.(754-756)gGg>gCg	p.G252A	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Missense_Mutation_p.G252A	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	252	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R251L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAGGATGGCCCCCCGCAAGCG	0.507													G	183700632	C	G	183700632	3	3	13	1	0	0	0	0	1	0	0	0	56	623	22	5	3658	5	ABCC5	3	183700632	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	41512360	183700632	14321798	21	886											
FAM193A	8603	broad.mit.edu	37	4	2698176	2698176	+	Silent	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:2698176T>C	uc010ick.3	+	16	3091	c.3090T>C	c.(3088-3090)ccT>ccC	p.P1030P	FAM193A_uc003gfd.3_Silent_p.P830P|FAM193A_uc011bvm.2_Silent_p.P852P|FAM193A_uc011bvn.2_Silent_p.P830P|FAM193A_uc010icl.3_Silent_p.P830P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.P684P	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	830										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGGAGCAACCTAAAAAAATGG	0.453													C	2698176	T	C	2698176	2	2	13	1	0	0	0	0	0	0	0	1	5524	1509	53	4		4	FAM193A	4	2698176	Silent	SNP	T	TCGA-06-0128-01A-01D-1490-08		2698176	188456100	22	887											
SLIT2	9353	broad.mit.edu	37	4	20547701	20547701	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:20547701A>G	uc003gpr.1	+	21	2528	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	SLIT2_uc003gps.1_Missense_Mutation_p.N767S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	775					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.N775S(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAACTCTCCAACTACAAACAT	0.358													G	20547701	A	G	20547701	3	3	13	1	0	0	0	0	1	0	0	0	14740	43	2	4	2410	4	SLIT2	4	20547701	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	17849525	20547701	170606575	23	888											
KDR	3791	broad.mit.edu	37	4	55958819	55958819	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:55958819C>T	uc003has.3	-	21	3336	c.3034G>A	c.(3034-3036)Gtg>Atg	p.V1012M	KDR_uc003hat.1_Missense_Mutation_p.V1012M	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1012	Protein kinase.				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			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)	CCCTTAGCCACTTGGAAGCTG	0.463			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			T	55958819	C	T	55958819	3	4	13	1	0	0	0	0	1	0	0	0	8139	565	20	3	1072	3	KDR	4	55958819	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	35411118	55958819	135195457	24	889											
TMPRSS11A	339967	broad.mit.edu	37	4	68784796	68784796	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:68784796T>G	uc003hdr.1	-	7	977	c.856A>C	c.(856-858)Acc>Ccc	p.T286P	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.T283P	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	286	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCCGAAAAGGTGACTCTGGAA	0.433													G	68784796	T	G	68784796	3	3	13	1	0	0	0	0	1	0	0	0	16236	1696	59	5	421	5	TMPRSS11A	4	68784796	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	12825977	68784796	122369480	25	890											
UGT2B10	7365	broad.mit.edu	37	4	69874638	69874638	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:69874638T>C	uc011cao.1	-	6	1238	c.1112A>G	c.(1111-1113)gAc>gGc	p.D371G	UGT2B10_uc011can.1_Missense_Mutation_p.D287G			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	415					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGTGTTGAAGTCCACTCTAAC	0.403													C	69874638	T	C	69874638	3	2	13	1	0	0	0	0	1	0	0	0	16953	1667	58	4	1961	4	UGT2B10	4	69874638	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	1089842	69874638	121279638	26	891											
ADAM29	11086	broad.mit.edu	37	4	175897388	175897388	+	Missense_Mutation	SNP	G	G	C	rs148389603		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:175897388G>C	uc003iuc.3	+	4	1382	c.712G>C	c.(712-714)Gtc>Ctc	p.V238L	ADAM29_uc003iud.3_Missense_Mutation_p.V238L|ADAM29_uc010irr.3_Missense_Mutation_p.V238L|ADAM29_uc011cki.2_Missense_Mutation_p.V238L|ADAM29_uc021xuo.1_Missense_Mutation_p.V238L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	238	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CATTTTGGATGTCATTGGTGT	0.348													C	175897388	G	C	175897388	3	2	13	1	0	0	0	0	1	0	0	0	247	1377	48	5	714	5	ADAM29	4	175897388	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	106022750	175897388	15256888	27	892											
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:67589138G>C	uc003jva.3	+	9	1706	c.1126G>C	c.(1126-1128)Gga>Cga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			C	67589138	G	C	67589138	3	2	13	1	0	0	0	0	1	0	0	0	11918	1233	43	5	1290	5	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08		67589138	113326122	28	893											
PCDHAC2	56140	broad.mit.edu	37	5	140222411	140222411	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:140222411G>A	uc003lhs.2	+	0	1505	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R502H	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	516	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGAGCGCTCGCTGTCG	0.672													A	140222411	G	A	140222411	3	1	13	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140222411	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	72633273	140222411	40692849	29	894											
PCDHGC5	26025	broad.mit.edu	37	5	140810513	140810513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:140810513G>A	uc003lkt.2	+	0	356	c.187G>A	c.(187-189)Gga>Aga	p.G63R	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.G63R	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	63	Cadherin 1.				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)			CGCGGAGCGCGGAGTCCGCAT	0.652													A	140810513	G	A	140810513	3	1	13	1	0	0	0	0	1	0	0	0	11571	1117	39	2		2	PCDHGC5	5	140810513	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	588102	140810513	40104747	30	895											
ODZ2	57451	broad.mit.edu	37	5	167553791	167553791	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:167553791G>A	uc010jjd.3	+	11	2242	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I	ODZ2_uc003lzr.4_Missense_Mutation_p.V516I|ODZ2_uc003lzt.4_Missense_Mutation_p.V112I|ODZ2_uc010jje.3_Missense_Mutation_p.V19I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CACTCACGGCGTCTGCATCGG	0.587													A	167553791	G	A	167553791	3	1	13	1	0	0	0	0	1	0	0	0	10835	1145	40	1	2288	1	ODZ2	5	167553791	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	26743278	167553791	13361469	31	896											
PPIL6	285755	broad.mit.edu	37	6	109752491	109752491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr6:109752491G>A	uc010kdp.3	-	2	870	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	PPIL6_uc003ptg.4_Nonsense_Mutation_p.Q97*|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	97					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CCCAGAAACTGACCATTAACA	0.403													A	109752491	G	A	109752491	4	1	13	1	0	0	0	0	0	1	0	0	12331	1299	45	3	752	3	PPIL6	6	109752491	Nonsense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08		109752491	61362576	32	897											
HOXA2	3199	broad.mit.edu	37	7	27142031	27142031	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:27142031T>A	uc003syh.3	-	0	364	c.89A>T	c.(88-90)gAt>gTt	p.D30V	HOXA2_uc022aaq.1_Missense_Mutation_p.D30V	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	30						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TTGAAATGTATCAGCGACAGG	0.493													A	27142031	T	A	27142031	3	1	13	1	0	0	0	0	1	0	0	0	7292	1435	50	5	1049	5	HOXA2	7	27142031	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		27142031	131996632	33	898											
GCK	2645	broad.mit.edu	37	7	44189583	44189583	+	Silent	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:44189583A>G	uc003tkl.2	-	4	1034	c.564T>C	c.(562-564)gcT>gcC	p.A188A	GCK_uc003tkj.1_Silent_p.A187A|GCK_uc003tkk.1_Silent_p.A189A	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	188			A -> T (in MODY2; large increase in Km for glucose).		cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCCGTTTGATAGCGTCTCGCA	0.632													G	44189583	A	G	44189583	2	3	13	1	0	0	0	0	0	0	0	1	6293	407	15	4		4	GCK	7	44189583	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	17047552	44189583	114949080	34	899											
MAGI2	9863	broad.mit.edu	37	7	77797372	77797372	+	Silent	SNP	A	A	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:77797372A>T	uc003ugx.3	-	14	2711	c.2457T>A	c.(2455-2457)ctT>ctA	p.L819L	MAGI2_uc003ugy.3_Silent_p.L805L|MAGI2_uc010ldx.1_Silent_p.L412L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	819	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCCTGGGTGAAGGCGGCCAT	0.517													T	77797372	A	T	77797372	2	4	13	1	0	0	0	0	0	0	0	1	9191	233	9	5		5	MAGI2	7	77797372	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	33607789	77797372	81341291	35	900											
SAMD9L	219285	broad.mit.edu	37	7	92763379	92763379	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:92763379G>A	uc003umh.1	-	4	3122	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SAMD9L_uc003umj.1_Missense_Mutation_p.P636S|SAMD9L_uc003umi.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P636S|SAMD9L_uc003umk.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P636S|SAMD9L_uc022ahh.1_Missense_Mutation_p.P636S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	636								p.P636P(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACGGGCGGGCAAAAACCTT	0.398													A	92763379	G	A	92763379	3	1	13	1	0	0	0	0	1	0	0	0	13827	1203	42	3	2852	3	SAMD9L	7	92763379	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	14966007	92763379	66375284	36	901											
PPP1R3A	5506	broad.mit.edu	37	7	113519285	113519285	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:113519285C>A	uc010ljy.1	-	3	1893	c.1862G>T	c.(1861-1863)aGa>aTa	p.R621I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	621					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTTCCAGTTCTTGATGAACA	0.383													A	113519285	C	A	113519285	3	1	13	1	0	0	0	0	1	0	0	0	12371	913	32	5	1510	5	PPP1R3A	7	113519285	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	20755906	113519285	45619378	37	902											
TUSC3	7991	broad.mit.edu	37	8	15519674	15519674	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr8:15519674T>C	uc003wwt.3	+	4	921	c.577T>C	c.(577-579)Ttc>Ctc	p.F193L	TUSC3_uc003wwu.3_Missense_Mutation_p.F193L	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	193					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.F193L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATTCGGGTTTTCAGACCACC	0.353													C	15519674	T	C	15519674	3	2	13	1	0	0	0	0	1	0	0	0	16775	1841	64	4	595	4	TUSC3	8	15519674	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		15519674	130844348	38	903											
LINGO2	158038	broad.mit.edu	37	9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:27949442_27949443insT	uc003zqv.1	-	6	1877_1878	c.1227_1228insA	c.(1225-1230)aaacccfs	p.K409fs	LINGO2_uc010mjf.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc003zqu.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc022bfc.1_Frame_Shift_Ins_p.K409fs	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	409	LRRCT.					integral to membrane		p.P410T(3)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.49													T	27949443	-	T	27949442	7	5	13	1	0	1	1	0	0	0	0	0	8815	1261	44	0	596	0	LINGO2	9	27949442	Frame_Shift_Ins	INS	-	TCGA-06-0128-01A-01D-1490-08		27949442	113263989	39	904											
TRIM32	22954	broad.mit.edu	37	9	119461599	119461599	+	Silent	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:119461599C>T	uc022bmo.1	+	0	1578	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Silent_p.T526T|TRIM32_uc004bjx.2_Silent_p.T526T	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	526					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.T526T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTGAGGGCACCGTCTACTTCA	0.542													T	119461599	C	T	119461599	2	4	13	1	0	0	0	0	0	0	0	1	16503	639	23	2		2	TRIM32	9	119461599	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08	91512157	119461599	21751832	40	905											
GARNL3	84253	broad.mit.edu	37	9	130155514	130155514	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:130155514A>G	uc011mae.2	+	27	3424	c.3023A>G	c.(3022-3024)gAc>gGc	p.D1008G	GARNL3_uc011mad.2_Missense_Mutation_p.D986G|GARNL3_uc010mxi.3_Missense_Mutation_p.D238G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	1008					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCCGATGAAGACATTATAGAC	0.483													G	130155514	A	G	130155514	3	3	13	1	0	0	0	0	1	0	0	0	6241	275	10	4	3133	4	GARNL3	9	130155514	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	10693915	130155514	11057917	41	906											
RRP8	23378	broad.mit.edu	37	11	6622635	6622635	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:6622635C>G	uc001med.3	-	2	809	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	221					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GGAGACACCTCTGTCTTCTCT	0.607													G	6622635	C	G	6622635	3	3	13	1	0	0	0	0	1	0	0	0	13690	922	32	5	729	5	RRP8	11	6622635	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		6622635	128383881	42	907											
OR8J3	81168	broad.mit.edu	37	11	55904564	55904564	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:55904564T>C	uc010riz.2	-	0	631	c.631A>G	c.(631-633)Atg>Gtg	p.M211V		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M211I(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)					ACTGTAATCATGGAAAAAACC	0.358													C	55904564	T	C	55904564	3	2	13	1	0	0	0	0	1	0	0	0	11242	1464	51	4	318	4	OR8J3	11	55904564	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	49281929	55904564	79101952	43	908											
MS4A14	84689	broad.mit.edu	37	11	60164186	60164186	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:60164186G>T	uc001npj.3	+	0	700	c.135G>T	c.(133-135)ttG>ttT	p.L45F	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.L45F|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	45						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CAAGAGTCTTGGGGGTAAGTC	0.423													T	60164186	G	T	60164186	3	4	13	1	0	0	0	0	1	0	0	0	9858	1339	47	5	137	5	MS4A14	11	60164186	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	4259622	60164186	74842330	44	909											
TPCN2	219931	broad.mit.edu	37	11	68822263	68822263	+	Silent	SNP	A	A	G	rs142314553		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:68822263A>G	uc001oos.2	+	2	365	c.249A>G	c.(247-249)caA>caG	p.Q83Q	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Silent_p.Q83Q|TPCN2_uc021qmo.1_5'Flank	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	83					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTATGCCAACGGTGAGAAC	0.602													G	68822263	A	G	68822263	2	3	13	1	0	0	0	0	0	0	0	1	16393	40	2	4		4	TPCN2	11	68822263	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	8658077	68822263	66184253	45	910											
C1QTNF5	83552	broad.mit.edu	37	11	119212361	119212361	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:119212361T>G	uc010rzg.1	-	9	1443	c.1283A>C	c.(1282-1284)gAg>gCg	p.E428A	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	546	LDL-receptor class A 2.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCACTGGTGCTCCGCTTCCTG	0.647													G	119212361	T	G	119212361	3	3	13	1	0	0	0	0	1	0	0	0	1966	1551	54	5		5	C1QTNF5	11	119212361	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	50390098	119212361	15794155	46	911											
OR10S1	219873	broad.mit.edu	37	11	123847740	123847740	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:123847740A>G	uc001pzm.1	-	0	659	c.659T>C	c.(658-660)gTg>gCg	p.V220A		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V220M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCCTGCAGCCACGATGCCAAT	0.562													G	123847740	A	G	123847740	3	3	13	1	0	0	0	0	1	0	0	0	10918	159	6	4	340	4	OR10S1	11	123847740	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	4635379	123847740	11158776	47	912											
APLP2	334	broad.mit.edu	37	11	129999095	129999095	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:129999095G>A	uc010sby.2	+	9	1606	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	APLP2_uc001qfp.3_Silent_p.P483P|APLP2_uc001qfq.3_Silent_p.P427P|APLP2_uc010sbz.2_Silent_p.P271P|APLP2_uc001qfr.3_Silent_p.P249P|APLP2_uc001qfs.3_Silent_p.P254P|APLP2_uc021qsg.1_Silent_p.P493P|APLP2_uc001qfv.3_Silent_p.P374P	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	483					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGTCTGACCCGCCACGGGTGA	0.572													A	129999095	G	A	129999095	2	1	13	1	0	0	0	0	0	0	0	1	779	1074	38	1		1	APLP2	11	129999095	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	6151355	129999095	5007421	48	913											
ATN1	1822	broad.mit.edu	37	12	7045674	7045674	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr12:7045674C>T	uc001qrw.1	+	4	1481	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	ATN1_uc001qrx.1_Missense_Mutation_p.P415L|ATN1_uc001qry.1_Missense_Mutation_p.P414L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	415					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTCCCTCCCCCAACAAGCCTC	0.607													T	7045674	C	T	7045674	3	4	13	1	0	0	0	0	1	0	0	0	1111	594	21	3	1258	3	ATN1	12	7045674	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		7045674	126806221	49	914											
PDE3A	5139	broad.mit.edu	37	12	20790147	20790147	+	Silent	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr12:20790147A>G	uc001reh.2	+	8	2155	c.2115A>G	c.(2113-2115)agA>agG	p.R705R	PDE3A_uc021qwa.1_Silent_p.R383R	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	705					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			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)	ATATAGGAAGAAAATGTGGCC	0.343													G	20790147	A	G	20790147	2	3	13	1	0	0	0	0	0	0	0	1	11637	243	9	4		4	PDE3A	12	20790147	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	13744473	20790147	113061748	50	915											
SACS	26278	broad.mit.edu	37	13	23912431	23912431	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr13:23912431T>C	uc001uon.2	-	9	6173	c.5584A>G	c.(5584-5586)Aca>Gca	p.T1862A	SACS_uc001uoo.2_Missense_Mutation_p.T1715A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1862					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTTTCACTGTCCACTTCTGG	0.453													C	23912431	T	C	23912431	3	2	13	1	0	0	0	0	1	0	0	0	13804	1667	58	4	8159	4	SACS	13	23912431	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		23912431	91257447	51	916											
PAN3	255967	broad.mit.edu	37	13	28851372	28851372	+	Splice_Site	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr13:28851372A>G	uc001urz.3	+	15	2202	c.2050_splice	c.e15-2	p.Q684_splice	PAN3_uc001ury.3_Splice_Site_p.Q372_splice|PAN3_uc001urx.3_Splice_Site_p.Q484_splice	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	684	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTTTCATGTCAGCAAGCAGAT	0.343													G	28851372	A	G	28851372	5	3	13	1	0	0	0	0	0	0	1	0	11415	202	7	4	2106	4	PAN3	13	28851372	Splice_Site	SNP	A	TCGA-06-0128-01A-01D-1490-08	4938941	28851372	86318506	52	917											
G2E3	55632	broad.mit.edu	37	14	31081472	31081472	+	Nonsense_Mutation	SNP	C	C	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr14:31081472C>G	uc001wqk.2	+	12	1714	c.1560C>G	c.(1558-1560)taC>taG	p.Y520*	G2E3_uc010tpf.1_Nonsense_Mutation_p.Y474*|G2E3_uc001wql.1_Nonsense_Mutation_p.Y32*	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	520	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTATAACTACCTTGAGTTAA	0.318													G	31081472	C	G	31081472	4	3	13	1	0	0	0	0	0	1	0	0	6140	518	18	5	1606	5	G2E3	14	31081472	Nonsense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		31081472	76268068	53	918											
WDHD1	11169	broad.mit.edu	37	14	55451511	55451511	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr14:55451511T>G	uc001xbm.2	-	14	1926	c.1836A>C	c.(1834-1836)caA>caC	p.Q612H	WDHD1_uc010aom.2_Missense_Mutation_p.Q129H|WDHD1_uc001xbn.2_Missense_Mutation_p.Q489H	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	612				Q -> K (in Ref. 2; AAH43349/AAH00622).		cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATGCAAAATTTGTTTTTTCT	0.378													G	55451511	T	G	55451511	3	3	13	1	0	0	0	0	1	0	0	0	17268	1838	64	5	1601	5	WDHD1	14	55451511	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	24370039	55451511	51898029	54	919											
TCF12	6938	broad.mit.edu	37	15	57554312	57554313	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:57554312_57554313delCT	uc002aec.3	+	15	1700_1701	c.1416_1417delCT	c.(1414-1419)gactctfs	p.D472fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.D524fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.D492fs|TCF12_uc002aea.3_Frame_Shift_Del_p.D496fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.D496fs|TCF12_uc002aed.3_Frame_Shift_Del_p.D472fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.D236fs|TCF12_uc002aee.3_Frame_Shift_Del_p.D302fs|TCF12_uc010bft.3_Frame_Shift_Del_p.D326fs|TCF12_uc010ugp.2_Frame_Shift_Del_p.D130fs|TCF12_uc010ugq.2_Frame_Shift_Del_p.D106fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.D85fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	472					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATCGGGAAGACTCTGTCAGTCT	0.356			T	TEC	extraskeletal myxoid chondrosarcoma								-	57554313	CT	-	57554312	7	5	13	1	0	1	0	1	0	0	0	0	15684	564	20	0	1623	0	TCF12	15	57554312	Frame_Shift_Del	DEL	CT	TCGA-06-0128-01A-01D-1490-08		57554312	44977080	55	920											
TCF12	6938	broad.mit.edu	37	15	57555309	57555309	+	Splice_Site	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:57555309G>C	uc002aec.3	+	17	1795	c.1511_splice	c.e17-1	p.G504_splice	TCF12_uc010ugm.1_Splice_Site_p.G556_splice|TCF12_uc010ugn.1_Splice_Site_p.G524_splice|TCF12_uc002aea.3_Splice_Site_p.G528_splice|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Splice_Site_p.G528_splice|TCF12_uc002aed.3_Splice_Site_p.G504_splice|TCF12_uc010ugo.2_Splice_Site_p.G268_splice|TCF12_uc002aee.3_Splice_Site_p.G334_splice|TCF12_uc010bft.3_Splice_Site_p.G358_splice|TCF12_uc010ugp.2_Splice_Site_p.G162_splice|TCF12_uc010ugq.2_Splice_Site_p.G138_splice|TCF12_uc010ugr.1_Splice_Site_p.G117_splice	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	504					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.?(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTCTTTGTTAGGTGGCTTGCA	0.358			T	TEC	extraskeletal myxoid chondrosarcoma								C	57555309	G	C	57555309	5	2	13	1	0	0	0	0	0	0	1	0	15684	1014	35	5	1721	5	TCF12	15	57555309	Splice_Site	SNP	G	TCGA-06-0128-01A-01D-1490-08	997	57555309	44976083	56	921											
TARSL2	123283	broad.mit.edu	37	15	102241320	102241320	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:102241320A>G	uc002bxm.3	-	9	1344	c.1289T>C	c.(1288-1290)tTc>tCc	p.F430S	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	430					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTATAAATGAAGGCTCCTCT	0.303													G	102241320	A	G	102241320	3	3	13	1	0	0	0	0	1	0	0	0	15558	246	9	4	1159	4	TARSL2	15	102241320	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	44686011	102241320	290072	57	922											
HBZ	3050	broad.mit.edu	37	16	202974	202974	+	Silent	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:202974C>T	uc002cft.1	+	0	121	c.66C>T	c.(64-66)gcC>gcT	p.A22A		NM_005332	NP_005323	P02008	HBAZ_HUMAN	Homo sapiens hemoglobin, zeta (HBZ), mRNA.	22						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACGCAGGCCGACACCATCG	0.627													T	202974	C	T	202974	2	4	13	1	0	0	0	0	0	0	0	1	6989	639	23	2		2	HBZ	16	202974	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08		202974	90151779	58	923											
SSTR5	6755	broad.mit.edu	37	16	1129388	1129388	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:1129388C>A	uc021taf.1	+	1	591	c.520C>A	c.(520-522)Ctc>Atc	p.L174I	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.L174I	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	174					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTCGCTGCCGCTCCTGGTGTT	0.721													A	1129388	C	A	1129388	3	1	13	1	0	0	0	0	1	0	0	0	15200	797	28	5	522	5	SSTR5	16	1129388	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	926414	1129388	89225365	59	924											
C16orf91	283951	broad.mit.edu	37	16	1470457	1470457	+	Silent	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:1470457C>T	uc010uvd.2	-	3	660	c.660G>A	c.(658-660)tcG>tcA	p.S220S	C16orf91_uc002clr.3_Silent_p.S63S	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.	63						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TATGGCCCACCGACCAGCGGT	0.652													T	1470457	C	T	1470457	2	4	13	1	0	0	0	0	0	0	0	1	1844	639	23	2		2	C16orf91	16	1470457	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08	341069	1470457	88884296	60	925											
PDILT	204474	broad.mit.edu	37	16	20370764	20370764	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:20370764G>A	uc002dhc.1	-	11	1855	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	544					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.Y544Y(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTTGGATACGTACTTGGTCA	0.512													A	20370764	G	A	20370764	2	1	13	1	0	0	0	0	0	0	0	1	11674	1140	40	1		1	PDILT	16	20370764	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	18900307	20370764	69983989	61	926											
ARMC5	79798	broad.mit.edu	37	16	31470871	31470871	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:31470871C>A	uc010vfn.2	+	2	435	c.311C>A	c.(310-312)aCg>aAg	p.T104K	ARMC5_uc010vfo.2_Missense_Mutation_p.T41K|ARMC5_uc002ecc.3_Missense_Mutation_p.T9K|ARMC5_uc002eca.4_Missense_Mutation_p.T9K|ARMC5_uc002ecb.2_Missense_Mutation_p.T9K|ARMC5_uc010vfp.2_Missense_Mutation_p.T9K	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	9							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAACCCTCACGGACTCGCTC	0.687													A	31470871	C	A	31470871	3	1	13	1	0	0	0	0	1	0	0	0	954	536	19	5	28	5	ARMC5	16	31470871	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	11100107	31470871	58883882	62	927											
SPNS3	201305	broad.mit.edu	37	17	4337372	4337372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:4337372G>A	uc002fxt.3	+	0	154	c.110G>A	c.(109-111)tGg>tAg	p.W37*	SPNS3_uc002fxu.3_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	37					lipid transport|transmembrane transport	integral to membrane		p.W37F(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCCACCTCCTGGAGCCTGCCC	0.657													A	4337372	G	A	4337372	4	1	13	1	0	0	0	0	0	1	0	0	15075	1357	47	3	112	3	SPNS3	17	4337372	Nonsense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08		4337372	76857838	63	928											
TP53	7157	broad.mit.edu	37	17	7576910	7576910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:7576910delG	uc002gim.2	-	8	1130	c.936delC	c.(934-936)accfs	p.T312fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.T312fs|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Frame_Shift_Del_p.T180fs|TP53_uc010cnf.1_Frame_Shift_Del_p.T180fs|TP53_uc002gii.1_Frame_Shift_Del_p.T180fs|TP53_uc010cni.1_Frame_Shift_Del_p.T312fs|TP53_uc010cnh.1_Frame_Shift_Del_p.T312fs|TP53_uc002gij.2_Frame_Shift_Del_p.T312fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	312	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		T -> I (in sporadic cancers; somatic mutation).|T -> S (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.0?(8)|p.T312S(4)|p.T312T(4)|p.?(2)|p.S313fs*24(2)|p.N311H(1)|p.N311K(1)|p.T312fs*25(1)|p.T312fs*33(1)|p.L308fs*15(1)|p.N311fs*34(1)|p.L308fs*31(1)|p.T312A(1)|p.S313fs*32(1)|p.T312I(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)		GAGAGGAGCTGGTGTTGTTGG	0.488		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)			-	7576910	G	-	7576910	7	5	13	1	0	1	0	1	0	0	0	0	16378	1335	47	0	346	0	TP53	17	7576910	Frame_Shift_Del	DEL	G	TCGA-06-0128-01A-01D-1490-08	3239538	7576910	73618300	64	929											
KRT34	3885	broad.mit.edu	37	17	39538605	39538605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:39538605delG	uc002hwm.3	-	0	32	c.20delC	c.(19-21)ccafs	p.P7fs		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	7	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AATTGTGGGTGGGGGCTTGGC	0.458													-	39538605	G	-	39538605	7	5	13	1	0	1	0	1	0	0	0	0	8471	1348	47	0	1318	0	KRT34	17	39538605	Frame_Shift_Del	DEL	G	TCGA-06-0128-01A-01D-1490-08	31961695	39538605	41656605	65	930											
EVPL	2125	broad.mit.edu	37	17	74004095	74004095	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:74004095G>A	uc010wss.1	-	21	5485	c.5257C>T	c.(5257-5259)Ccc>Tcc	p.P1753S	EVPL_uc002jqi.2_Missense_Mutation_p.P1731S|EVPL_uc010wst.1_Missense_Mutation_p.P1201S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1731	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCCCACAGGGCCCCGAGGTG	0.642													A	74004095	G	A	74004095	3	1	13	1	0	0	0	0	1	0	0	0	5292	1203	42	3	914	3	EVPL	17	74004095	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	34465490	74004095	7191115	66	931											
WDR7	23335	broad.mit.edu	37	18	54694330	54694330	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr18:54694330G>A	uc002lgk.1	+	27	4576	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	WDR7_uc002lgl.1_Silent_p.A1422A	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1455										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCAGCCCGCGTCCCCCGGCT	0.617													A	54694330	G	A	54694330	2	1	13	1	0	0	0	0	0	0	0	1	17317	1132	40	1		1	WDR7	18	54694330	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08		54694330	23382918	67	932											
ZNF407	55628	broad.mit.edu	37	18	72345426	72345426	+	Silent	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr18:72345426G>C	uc002llw.2	+	0	2504	c.2451G>C	c.(2449-2451)gcG>gcC	p.A817A	ZNF407_uc010xfc.2_Silent_p.A817A|ZNF407_uc010dqu.2_Silent_p.A817A|ZNF407_uc002llu.2_Silent_p.A816A	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GCATGCTGGCGTCTGAGGAAC	0.438													C	72345426	G	C	72345426	2	2	13	1	0	0	0	0	0	0	0	1	17884	1132	40	5		5	ZNF407	18	72345426	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	17651096	72345426	5731822	68	933											
C3	718	broad.mit.edu	37	19	6707242	6707242	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:6707242C>T	uc002mfm.3	-	16	2152	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	697	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCCCGCATGCCGTCCTCGCA	0.667													T	6707242	C	T	6707242	3	4	13	1	0	0	0	0	1	0	0	0	2204	739	26	3	3001	3	C3	19	6707242	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		6707242	52421741	69	934											
ZNF440	126070	broad.mit.edu	37	19	11943173	11943173	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:11943173A>C	uc002msp.1	+	3	1338	c.1182A>C	c.(1180-1182)aaA>aaC	p.K394N	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGAGAAACCCTATGAGT	0.463													C	11943173	A	C	11943173	3	2	13	1	0	0	0	0	1	0	0	0	17910	40	2	5	1196	5	ZNF440	19	11943173	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	5235931	11943173	47185810	70	935											
BCAM	4059	broad.mit.edu	37	19	45315773	45315773	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:45315773A>G	uc002ozu.3	+	3	516	c.472A>G	c.(472-474)Aca>Gca	p.T158A	BCAM_uc002ozt.1_Missense_Mutation_p.T158A	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	158	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAACAAAGGGACACTGTCTGT	0.647													G	45315773	A	G	45315773	3	3	13	1	0	0	0	0	1	0	0	0	1344	275	10	4	486	4	BCAM	19	45315773	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	33372600	45315773	13813210	71	936											
ZNF649	65251	broad.mit.edu	37	19	52394411	52394411	+	Silent	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:52394411G>C	uc002pxy.3	-	4	1304	c.978C>G	c.(976-978)ggC>ggG	p.G326G	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTGAATGAAGCCTTTTCCAC	0.458													C	52394411	G	C	52394411	2	2	13	1	0	0	0	0	0	0	0	1	18061	958	34	5		5	ZNF649	19	52394411	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	7078638	52394411	6734572	72	937			1	3		2	2	13	N	T_G	3.217342e-05
ZNF649	65251	broad.mit.edu	37	19	52394423	52394423	+	Silent	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:52394423T>C	uc002pxy.3	-	4	1292	c.966A>G	c.(964-966)gaA>gaG	p.E322E	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTTTCCACATTCACTGCATG	0.458													C	52394423	T	C	52394423	2	2	13	1	0	0	0	0	0	0	0	1	18061	1490	52	4		4	ZNF649	19	52394423	Silent	SNP	T	TCGA-06-0128-01A-01D-1490-08	12	52394423	6734560	73	938			1	3		2	2	13	N	T_G	3.217342e-05
KIR2DL1	3802	broad.mit.edu	37	19	55284980	55284980	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:55284980G>A	uc010erz.1	+	2	304	c.266G>A	c.(265-267)cGc>cAc	p.R89H	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.R89H	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	89	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.R89H(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCCATCAGTCGCATGACGCAA	0.537													A	55284980	G	A	55284980	3	1	13	1	0	0	0	0	1	0	0	0	8316	1087	38	1	276	1	KIR2DL1	19	55284980	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	2890557	55284980	3844003	74	939											
ZNF586	54807	broad.mit.edu	37	19	58290731	58290731	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:58290731A>G	uc002qqd.3	+	2	967	c.776A>G	c.(775-777)gAa>gGa	p.E259G	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Missense_Mutation_p.E216G|ZNF586_uc002qqe.3_3'UTR|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACACAGGAGAAAGGCCTTAT	0.443													G	58290731	A	G	58290731	3	3	13	1	0	0	0	0	1	0	0	0	18016	246	9	4	786	4	ZNF586	19	58290731	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	3005751	58290731	838252	75	940											
DNMT3B	1789	broad.mit.edu	37	20	31368258	31368258	+	Silent	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:31368258C>T	uc002wyc.3	+	1	450	c.129C>T	c.(127-129)acC>acT	p.T43T	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.T43T|DNMT3B_uc002wye.3_Silent_p.T43T|DNMT3B_uc010ztz.2_Silent_p.T43T|DNMT3B_uc010zua.2_Silent_p.T43T|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.T55T	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	43	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTATCCGCACCCCGGAGATCA	0.652													T	31368258	C	T	31368258	2	4	13	1	0	0	0	0	0	0	0	1	4677	610	22	3		3	DNMT3B	20	31368258	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08		31368258	31657262	76	941											
SULF2	55959	broad.mit.edu	37	20	46307466	46307466	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:46307466C>T	uc002xto.3	-	7	1477	c.1147G>A	c.(1147-1149)Ggg>Agg	p.G383R	SULF2_uc002xtr.3_Missense_Mutation_p.G383R|SULF2_uc002xtq.3_Missense_Mutation_p.G383R	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	383					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGGATTTCCCGTCCATATCC	0.617													T	46307466	C	T	46307466	3	4	13	1	0	0	0	0	1	0	0	0	15370	652	23	2	1521	2	SULF2	20	46307466	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	14939208	46307466	16718054	77	942											
CHODL	140578	broad.mit.edu	37	21	19638284	19638284	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr21:19638284A>G	uc002ykv.3	+	5	1142	c.751A>G	c.(751-753)Aaa>Gaa	p.K251E	CHODL_uc002ykr.3_Missense_Mutation_p.K210E|CHODL_uc002yks.3_Missense_Mutation_p.K210E|CHODL_uc021whr.1_Missense_Mutation_p.K210E|CHODL_uc002ykt.3_Silent_p.Q175Q|CHODL_uc002yku.3_Silent_p.Q175Q|CHODL_uc021whs.1_Missense_Mutation_p.K232E	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	251					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGGAAGAACAAAAACTAGTCC	0.343													G	19638284	A	G	19638284	3	3	13	1	0	0	0	0	1	0	0	0	3364	15	1	4	773	4	CHODL	21	19638284	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08		19638284	28491611	78	943											
POTEH	23784	broad.mit.edu	37	22	16287511	16287511	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:16287511G>A	uc010gqp.2	-	0	427	c.375C>T	c.(373-375)gaC>gaT	p.D125D	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	125										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCATAGCAGAGTCGTCGTGGT	0.612													A	16287511	G	A	16287511	2	1	13	1	0	0	0	0	0	0	0	1	12267	1020	36	3		3	POTEH	22	16287511	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08		16287511	35017055	79	944											
MYO18B	84700	broad.mit.edu	37	22	26291213	26291213	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:26291213C>T	uc003abz.1	+	27	4884	c.4634C>T	c.(4633-4635)tCg>tTg	p.S1545L	MYO18B_uc003aca.1_Missense_Mutation_p.S1426L|MYO18B_uc010guy.1_Missense_Mutation_p.S1427L|MYO18B_uc010guz.1_Missense_Mutation_p.S1425L|MYO18B_uc011aka.1_Missense_Mutation_p.S699L|MYO18B_uc011akb.1_Missense_Mutation_p.S1058L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1545	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCTGGACTCGGAGCTGACA	0.552													T	26291213	C	T	26291213	3	4	13	1	0	0	0	0	1	0	0	0	10066	893	31	2	4740	2	MYO18B	22	26291213	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	10003702	26291213	25013353	80	945											
SF3A1	10291	broad.mit.edu	37	22	30738811	30738811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:30738811G>A	uc003ahl.3	-	4	841	c.709C>T	c.(709-711)Cga>Tga	p.R237*	SF3A1_uc021wnt.1_Nonsense_Mutation_p.R172*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	237					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AAAACTTCTCGGGGGTTTTCA	0.408													A	30738811	G	A	30738811	4	1	13	1	0	0	0	0	0	1	0	0	14146	1124	39	2	1720	2	SF3A1	22	30738811	Nonsense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	4447598	30738811	20565755	81	946											
GGA1	26088	broad.mit.edu	37	22	38016850	38016850	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:38016850A>G	uc003atc.3	+	5	845	c.458A>G	c.(457-459)gAt>gGt	p.D153G	GGA1_uc003ate.3_Missense_Mutation_p.D153G|GGA1_uc003atd.3_Missense_Mutation_p.D153G|GGA1_uc003atf.3_Missense_Mutation_p.D80G	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	153	Interaction with ARF3.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AAGCTTCCAGATGACACTACC	0.522													G	38016850	A	G	38016850	3	3	13	1	0	0	0	0	1	0	0	0	6352	333	12	4	546	4	GGA1	22	38016850	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	7278039	38016850	13287716	82	947											
FTSJ1	24140	broad.mit.edu	37	X	48337070	48337070	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chrX:48337070T>C	uc004djo.1	+	3	580	c.257T>C	c.(256-258)gTa>gCa	p.V86A	FTSJ1_uc004djn.1_Missense_Mutation_p.V86A|FTSJ1_uc011mlw.1_Intron	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	86					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCAGGTGTGGTACAGATCCAG	0.592													C	48337070	T	C	48337070	3	2	13	1	0	0	0	0	1	0	0	0	6087	1638	57	4	267	4	FTSJ1	23	48337070	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		48337070	106933490	83	948											
AADACL4	343066	broad.mit.edu	37	1	12726313	12726313	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:12726313G>A	uc001auf.3	+	3	791	c.791G>A	c.(790-792)cGt>cAt	p.R264H		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	264						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTCTCCTGGCGTGACGCCATC	0.498													A	12726313	G	A	12726313	3	1	14	1	0	0	0	0	1	0	0	0	13	1145	40	1	805	1	AADACL4	1	12726313	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		12726313	236524308	1	949											
MCL1	4170	broad.mit.edu	37	1	150550855	150550856	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:150550855_150550856delGA	uc001euz.3	-	1	1008_1009	c.800_801delTC	c.(799-801)ctcfs	p.L267fs	MCL1_uc010pch.2_Frame_Shift_Del_p.L157fs|MCL1_uc021oyf.1_Frame_Shift_Del_p.L114fs|MCL1_uc001eva.3_Intron	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	267					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAAAAGAAATGAGAGTCACAAT	0.436													-	150550856	GA	-	150550855	7	5	14	1	0	1	0	1	0	0	0	0	9384	1277	45	0	270	0	MCL1	1	150550855	Frame_Shift_Del	DEL	GA	TCGA-06-0129-01A-01D-1490-08	137824542	150550855	98699766	2	950											
MDM4	4194	broad.mit.edu	37	1	204507404	204507404	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:204507404C>G	uc001hba.3	+	6	645	c.479C>G	c.(478-480)aCc>aGc	p.T160S	MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Non-coding_Transcript|MDM4_uc010pqx.2_Missense_Mutation_p.T33S|MDM4_uc001hay.2_Missense_Mutation_p.T160S|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_Missense_Mutation_p.T33S|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	160					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	p.T160S(2)|p.T160T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACACTGCCTACCTCAGAGCAT	0.393			A		"GBM, bladder, retinoblastoma"								G	204507404	C	G	204507404	3	3	14	1	0	0	0	0	1	0	0	0	9414	507	18	5	501	5	MDM4	1	204507404	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	53956549	204507404	44743217	3	951											
CR1L	1379	broad.mit.edu	37	1	207868047	207868047	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:207868047G>T	uc001hga.4	+	4	934	c.813G>T	c.(811-813)aaG>aaT	p.K271N	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	271	Sushi 4.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCATGTGAAGTGCCAGGCCC	0.507													T	207868047	G	T	207868047	3	4	14	1	0	0	0	0	1	0	0	0	3841	1020	36	5	831	5	CR1L	1	207868047	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	3360643	207868047	41382574	4	952											
USH2A	7399	broad.mit.edu	37	1	216052218	216052218	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:216052218T>G	uc001hku.1	-	41	8833	c.8446A>C	c.(8446-8448)Act>Cct	p.T2816P		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2816					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GTGGGGTGAGTGGTAACATAG	0.458										HNSCC(13;0.011)			G	216052218	T	G	216052218	3	3	14	1	0	0	0	0	1	0	0	0	17033	1696	59	5	7286	5	USH2A	1	216052218	Missense_Mutation	SNP	T	TCGA-06-0129-01A-01D-1490-08	8184171	216052218	33198403	5	953											
ITGB1BP1	9270	broad.mit.edu	37	2	9547680	9547681	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:9547680_9547681delAC	uc002qzj.3	-	5	605_606	c.428_429delGT	c.(427-429)tgtfs	p.C143fs	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Intron|ITGB1BP1_uc002qzl.3_Intron|ITGB1BP1_uc010yiy.2_Frame_Shift_Del_p.C99fs|ITGB1BP1_uc002qzn.1_Frame_Shift_Del_p.C143fs	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	143	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CGTCATCGTAACACACCATCCG	0.48													-	9547681	AC	-	9547680	7	5	14	1	0	1	0	1	0	0	0	0	7891	41	2	0	181	0	ITGB1BP1	2	9547680	Frame_Shift_Del	DEL	AC	TCGA-06-0129-01A-01D-1490-08		9547680	233651693	6	954											
OLA1	29789	broad.mit.edu	37	2	174945887	174945887	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:174945887G>C	uc002uih.3	-	8	1145	c.959C>G	c.(958-960)aCc>aGc	p.T320S	OLA1_uc002uii.3_Missense_Mutation_p.T162S|OLA1_uc010fqq.3_Missense_Mutation_p.T299S|OLA1_uc010fqr.3_Intron	NM_013341	NP_001011708	Q9NTK5	OLA1_HUMAN	Homo sapiens Obg-like ATPase 1 (OLA1), transcript variant 1, mRNA.	320					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TACCCTGATGGTCCATGCACG	0.418													C	174945887	G	C	174945887	3	2	14	1	0	0	0	0	1	0	0	0	10850	1261	44	5	243	5	OLA1	2	174945887	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	165398207	174945887	68253486	7	955											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	14	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	34167225	209113112	34086261	8	956											
PROS1	5627	broad.mit.edu	37	3	93611922	93611922	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:93611922A>G	uc003drb.4	-	9	1351	c.1010T>C	c.(1009-1011)gTg>gCg	p.V337A	PROS1_uc010hoo.3_Missense_Mutation_p.V206A|PROS1_uc003dqz.4_Missense_Mutation_p.V206A	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	337	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.V337M(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)	GTACAGTATCACGCCTTCTGA	0.398													G	93611922	A	G	93611922	3	3	14	1	0	0	0	0	1	0	0	0	12558	159	6	4	1044	4	PROS1	3	93611922	Missense_Mutation	SNP	A	TCGA-06-0129-01A-01D-1490-08		93611922	104410508	9	957											
C3orf22	152065	broad.mit.edu	37	3	126268815	126268815	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:126268815G>A	uc003ejb.3	-	3	651	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	108										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GGGAAGCGGCGACTCAGCAAC	0.632													A	126268815	G	A	126268815	3	1	14	1	0	0	0	0	1	0	0	0	2215	1058	37	2	107	2	C3orf22	3	126268815	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	32656893	126268815	71753615	10	958											
CHST2	9435	broad.mit.edu	37	3	142841108	142841108	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:142841108C>T	uc003evm.3	+	1	2389	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	CHST2_uc021xex.1_Missense_Mutation_p.R484W	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	484					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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAATGCCTGGCGGACCGCCCT	0.607													T	142841108	C	T	142841108	3	4	14	1	0	0	0	0	1	0	0	0	3404	759	27	1	1452	1	CHST2	3	142841108	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	16572293	142841108	55181322	11	959											
FAM193A	8603	broad.mit.edu	37	4	2661629	2661629	+	Silent	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:2661629C>T	uc010ick.3	+	8	1321	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	FAM193A_uc003gfd.3_Silent_p.L240L|FAM193A_uc011bvm.2_Silent_p.L264L|FAM193A_uc011bvn.2_Silent_p.L240L|FAM193A_uc010icl.3_Silent_p.L240L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.L94L	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	240										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTCACCAGCTCCCACTTCAAG	0.562													T	2661629	C	T	2661629	2	4	14	1	0	0	0	0	0	0	0	1	5524	842	30	3		3	FAM193A	4	2661629	Silent	SNP	C	TCGA-06-0129-01A-01D-1490-08		2661629	188492647	12	960											
ZNF518B	85460	broad.mit.edu	37	4	10446518	10446518	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:10446518C>T	uc003gmn.3	-	2	1922	c.1435G>A	c.(1435-1437)Gtt>Att	p.V479I	ZNF518B_uc021xme.1_Missense_Mutation_p.V479I	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTAAGGCAACGGAAGGAAAA	0.348													T	10446518	C	T	10446518	3	4	14	1	0	0	0	0	1	0	0	0	17960	536	19	1	1793	1	ZNF518B	4	10446518	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	7784889	10446518	180707758	13	961											
EXOC1	55763	broad.mit.edu	37	4	56750010	56750010	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:56750010C>T	uc003hbe.1	+	9	1404	c.1246C>T	c.(1246-1248)Cga>Tga	p.R416*	EXOC1_uc003hbf.1_Nonsense_Mutation_p.R416*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.R416*|U6_uc021xoo.1_5'Flank	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	416					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTATTTATCCCGACTATATGA	0.299													T	56750010	C	T	56750010	4	4	14	1	0	0	0	0	0	1	0	0	5301	644	23	2	1280	2	EXOC1	4	56750010	Nonsense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	46303492	56750010	134404266	14	962											
PIK3R1	5295	broad.mit.edu	37	5	67591126	67591127	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:67591126_67591127delGA	uc003jva.3	+	12	2299_2300	c.1719_1720delGA	c.(1717-1722)ctgagafs	p.L573fs	PIK3R1_uc003jvc.3_Frame_Shift_Del_p.L273fs|PIK3R1_uc003jvd.3_Frame_Shift_Del_p.L303fs|PIK3R1_uc003jve.3_Frame_Shift_Del_p.L252fs|PIK3R1_uc021xzn.1_Frame_Shift_Del_p.L210fs|PIK3R1_uc011crb.2_Frame_Shift_Del_p.L243fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	573					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R574_T576del(4)|p.L570_D578del(2)|p.L573P(2)|p.R574T(2)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.R574I(1)|p.L570_Q572del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTATCCAGCTGAGAAAGACGAG	0.381			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591127	GA	-	67591126	7	5	14	1	0	1	0	1	0	0	0	0	11918	1277	45	0	1895	0	PIK3R1	5	67591126	Frame_Shift_Del	DEL	GA	TCGA-06-0129-01A-01D-1490-08		67591126	113324134	15	963											
SLC12A2	6558	broad.mit.edu	37	5	127420118	127420118	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:127420118G>C	uc003kus.3	+	0	636	c.472G>C	c.(472-474)Gat>Cat	p.D158H	FLJ33630_uc003kun.3_5'Flank|FLJ33630_uc003kuo.3_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.3_5'Flank|SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.D158H	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	158					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGCCTGTCAGATGCTGCCGG	0.692													C	127420118	G	C	127420118	3	2	14	1	0	0	0	0	1	0	0	0	14383	942	33	5	474	5	SLC12A2	5	127420118	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	59828992	127420118	53495142	16	964											
MYOZ3	91977	broad.mit.edu	37	5	150050115	150050115	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:150050115G>A	uc003lss.2	+	2	718	c.131G>A	c.(130-132)cGc>cAc	p.R44H	MYOZ3_uc003lsr.2_Missense_Mutation_p.R44H	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	44						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTCACTACGCAACAACAGA	0.612													A	150050115	G	A	150050115	3	1	14	1	0	0	0	0	1	0	0	0	10097	1087	38	1	137	1	MYOZ3	5	150050115	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	22629997	150050115	30865145	17	965											
PSMB8	5696	broad.mit.edu	37	6	32809494	32809494	+	Missense_Mutation	SNP	C	C	T	rs78945358	by1000genomes	TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:32809494C>T	uc003oce.3	-	4	599	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.3_5'Flank|PSMB8_uc003ocf.3_Missense_Mutation_p.V182M|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	186					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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TGTTCATCCACGTAGTAGAGT	0.463													T	32809494	C	T	32809494	3	4	14	1	0	0	0	0	1	0	0	0	12683	536	19	1	282	1	PSMB8	6	32809494	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		32809494	138305573	18	966											
CCND3	896	broad.mit.edu	37	6	41903737	41903738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:41903737_41903738insG	uc003orn.3	-	4	984_985	c.819_820insC	c.(817-822)tccagcfs	p.S273fs	CCND3_uc003orp.3_Frame_Shift_Ins_p.S192fs|CCND3_uc011duk.2_Frame_Shift_Ins_p.S77fs|CCND3_uc003orm.3_Frame_Shift_Ins_p.S223fs|CCND3_uc003oro.3_Frame_Shift_Ins_p.S201fs	NM_001760	NP_001129489	P30281	CCND3_HUMAN	Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA.	273					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTTGGCTGCTGGAGCCCCGGG	0.649			T	IGH@	MM								G	41903738	-	G	41903737	7	5	14	1	0	1	1	0	0	0	0	0	2918	1580	55	0	62	0	CCND3	6	41903737	Frame_Shift_Ins	INS	-	TCGA-06-0129-01A-01D-1490-08	9094243	41903737	129211330	19	967											
FABP7	2173	broad.mit.edu	37	6	123101455	123101455	+	Silent	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:123101455G>A	uc003pzf.3	+	1	387	c.93G>A	c.(91-93)agG>agA	p.R31R	FABP7_uc003pzd.3_Silent_p.R31R|FABP7_uc003pze.1_Silent_p.R31R	NM_001446	NP_001437	O15540	FABP7_HUMAN	Homo sapiens fatty acid binding protein 7, brain (FABP7), mRNA.	31					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	TTGCCACTAGGCAGGTGGGAA	0.448													A	123101455	G	A	123101455	2	1	14	1	0	0	0	0	0	0	0	1	5362	1194	42	3		3	FABP7	6	123101455	Silent	SNP	G	TCGA-06-0129-01A-01D-1490-08	81197718	123101455	48013612	20	968											
DYNC1I1	1780	broad.mit.edu	37	7	95657586	95657586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr7:95657586C>T	uc003uoc.4	+	10	1397	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	DYNC1I1_uc003uod.4_Nonsense_Mutation_p.R357*|DYNC1I1_uc003uob.3_Nonsense_Mutation_p.R337*|DYNC1I1_uc003uoe.4_Nonsense_Mutation_p.R354*|DYNC1I1_uc010lfl.3_Nonsense_Mutation_p.R363*	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	374					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.H373L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCGCAGTCATCGAAGGACTCC	0.547													T	95657586	C	T	95657586	4	4	14	1	0	0	0	0	0	1	0	0	4842	876	31	2	1158	2	DYNC1I1	7	95657586	Nonsense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		95657586	63481077	21	969											
JPH1	56704	broad.mit.edu	37	8	75156952	75156952	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr8:75156952A>G	uc003yae.3	-	3	1757	c.1717T>C	c.(1717-1719)Tcc>Ccc	p.S573P	JPH1_uc003yaf.3_Missense_Mutation_p.S573P|JPH1_uc003yag.1_Missense_Mutation_p.S437P	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	573					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GACTGGCTGGATCCATCGCCG	0.552													G	75156952	A	G	75156952	3	3	14	1	0	0	0	0	1	0	0	0	7960	333	12	4	276	4	JPH1	8	75156952	Missense_Mutation	SNP	A	TCGA-06-0129-01A-01D-1490-08		75156952	71207070	22	970											
CRTAC1	55118	broad.mit.edu	37	10	99696002	99696002	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr10:99696002C>T	uc001kou.2	-	2	702	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	CRTAC1_uc001kov.3_Missense_Mutation_p.G116R|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	116						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCTGTGACCCCGATGGCGTTC	0.632													T	99696002	C	T	99696002	3	4	14	1	0	0	0	0	1	0	0	0	3896	652	23	2	1691	2	CRTAC1	10	99696002	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		99696002	35838745	23	971											
C10orf46	143384	broad.mit.edu	37	10	120513921	120513923	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr10:120513921_120513923delGGA	uc001lds.1	-	0	836_838	c.352_354delTCC	c.(352-354)tccdel	p.S118del	C10orf46_uc010qst.1_Non-coding_Transcript	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	Homo sapiens chromosome 10 open reading frame 46 (C10orf46), mRNA.	118					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		ACTTGGAGGTGGAGGTGTTGATG	0.621													-	120513923	GGA	-	120513921	7	5	14	1	0	1	0	1	0	0	0	0	1604	1335	47	0	791	0	C10orf46	10	120513921	In_Frame_Del	DEL	GGA	TCGA-06-0129-01A-01D-1490-08	20817919	120513921	15020826	24	972											
LRRC56	115399	broad.mit.edu	37	11	544759	544759	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:544759G>A	uc010qvz.2	+	5	810	c.305G>A	c.(304-306)gGc>gAc	p.G102D		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	102										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGCTGAACGGCAGCCACCTG	0.701													A	544759	G	A	544759	3	1	14	1	0	0	0	0	1	0	0	0	9012	1203	42	3	315	3	LRRC56	11	544759	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		544759	134461757	25	973											
SLC22A25	387601	broad.mit.edu	37	11	62995959	62995959	+	Silent	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:62995959G>A	uc001nwr.1	-	1	480	c.480C>T	c.(478-480)ggC>ggT	p.G160G	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.G160G	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	160					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CATATAGGTTGCCTCCCACCA	0.408													A	62995959	G	A	62995959	2	1	14	1	0	0	0	0	0	0	0	1	14454	1306	46	3		3	SLC22A25	11	62995959	Silent	SNP	G	TCGA-06-0129-01A-01D-1490-08	62451200	62995959	72010557	26	974											
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	85375244	CTT	-	85375242	7	5	14	1	0	1	0	1	0	0	0	0	3863	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-06-0129-01A-01D-1490-08	22379283	85375242	49631274	27	975											
EXPH5	23086	broad.mit.edu	37	11	108382300	108382300	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:108382300C>T	uc001pkk.3	-	5	4045	c.3934G>A	c.(3934-3936)Gaa>Aaa	p.E1312K	EXPH5_uc010rvz.2_Missense_Mutation_p.E1156K|EXPH5_uc010rvy.2_Missense_Mutation_p.E1124K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1312					intracellular protein transport		Rab GTPase binding			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)		TTTAGATTTTCACATGAAGGT	0.413													T	108382300	C	T	108382300	3	4	14	1	0	0	0	0	1	0	0	0	5322	835	29	3	2039	3	EXPH5	11	108382300	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	23007058	108382300	26624216	28	976											
LRRK2	120892	broad.mit.edu	37	12	40668431	40668431	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:40668431C>G	uc001rmg.4	+	14	1824	c.1703C>G	c.(1702-1704)tCt>tGt	p.S568C	LRRK2_uc001rmh.1_Missense_Mutation_p.S190C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	568					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGTAATTTCTTCTATTGTA	0.358													G	40668431	C	G	40668431	3	3	14	1	0	0	0	0	1	0	0	0	9033	913	32	5	1761	5	LRRK2	12	40668431	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		40668431	93183464	29	977											
ANKRD52	283373	broad.mit.edu	37	12	56638930	56638930	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:56638930A>G	uc001skm.4	-	21	2539	c.2449T>C	c.(2449-2451)Tcg>Ccg	p.S817P		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	817							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCCAGGTACGAAAACGGGCTG	0.522													G	56638930	A	G	56638930	3	3	14	1	0	0	0	0	1	0	0	0	678	246	9	4	809	4	ANKRD52	12	56638930	Missense_Mutation	SNP	A	TCGA-06-0129-01A-01D-1490-08	15970499	56638930	77212965	30	978											
ANKRD52	283373	broad.mit.edu	37	12	56639372	56639372	+	Silent	SNP	A	A	C			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:56639372A>C	uc001skm.4	-	20	2283	c.2193T>G	c.(2191-2193)acT>acG	p.T731T		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	731							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCTCACAGCCAGTCACTGCCT	0.587													C	56639372	A	C	56639372	2	2	14	1	0	0	0	0	0	0	0	1	678	175	7	5		5	ANKRD52	12	56639372	Silent	SNP	A	TCGA-06-0129-01A-01D-1490-08	442	56639372	77212523	31	979											
IL22	50616	broad.mit.edu	37	12	68647046	68647046	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:68647046C>G	uc001sty.1	-	0	236	c.183G>C	c.(181-183)aaG>aaC	p.K61N	IL22_uc010stb.1_Missense_Mutation_p.K61N	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	61					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TGTATACCTCCTTAGCCAGCA	0.483													G	68647046	C	G	68647046	3	3	14	1	0	0	0	0	1	0	0	0	7672	680	24	5	376	5	IL22	12	68647046	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	12007674	68647046	65204849	32	980											
RPLP0	6175	broad.mit.edu	37	12	120636422	120636422	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:120636422C>T	uc001txp.3	-	5	823	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	RPLP0_uc001txr.3_Intron|RPLP0_uc001txq.3_Missense_Mutation_p.G196S|RPLP0_uc021ret.1_Non-coding_Transcript|LOC100506649_uc021reu.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	Homo sapiens ribosomal protein, large, P0 (RPLP0), transcript variant 2, mRNA.	196					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGATGCTGCCATTGTCGAAC	0.532													T	120636422	C	T	120636422	3	4	14	1	0	0	0	0	1	0	0	0	13604	594	21	3	379	3	RPLP0	12	120636422	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	51989376	120636422	13215473	33	981											
HIP1R	9026	broad.mit.edu	37	12	123346052	123346052	+	Silent	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:123346052G>A	uc001udj.1	+	30	3209	c.3150G>A	c.(3148-3150)caG>caA	p.Q1050Q	HIP1R_uc001udk.1_Silent_p.Q315Q	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	1050					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCCCCAGACAGGACCACCAGG	0.677													A	123346052	G	A	123346052	2	1	14	1	0	0	0	0	0	0	0	1	7115	991	35	3		3	HIP1R	12	123346052	Silent	SNP	G	TCGA-06-0129-01A-01D-1490-08	2709630	123346052	10505843	34	982											
NALCN	259232	broad.mit.edu	37	13	102047697	102047697	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr13:102047697C>T	uc001vox.1	-	2	317	c.128G>A	c.(127-129)cGc>cAc	p.R43H	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43H|NALCN_uc001vpa.2_Missense_Mutation_p.R43H	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	43						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACAGATGCGCAGCAAAGA	0.433													T	102047697	C	T	102047697	3	4	14	1	0	0	0	0	1	0	0	0	10148	768	27	1	5256	1	NALCN	13	102047697	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		102047697	13122181	35	983											
OR4N2	390429	broad.mit.edu	37	14	20295961	20295961	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr14:20295961G>A	uc010tkv.2	+	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTGTGATGGCCTTTGACC	0.517													A	20295961	G	A	20295961	3	1	14	1	0	0	0	0	1	0	0	0	11077	1348	47	3	356	3	OR4N2	14	20295961	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		20295961	87053579	36	984											
MIA2	117153	broad.mit.edu	37	14	39703346	39703348	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr14:39703346_39703348delCTT	uc001wux.3	+	0	222_224	c.28_30delCTT	c.(28-30)cttdel	p.L12del	MIA2_uc010amy.2_5'UTR	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	12						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCACAGAATCCTTCTTCTGGCTA	0.424													-	39703348	CTT	-	39703346	7	5	14	1	0	1	0	1	0	0	0	0	9564	681	24	0	30	0	MIA2	14	39703346	In_Frame_Del	DEL	CTT	TCGA-06-0129-01A-01D-1490-08	19407385	39703346	67646194	37	985											
DHX38	9785	broad.mit.edu	37	16	72130894	72130894	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr16:72130894G>A	uc002fcb.3	+	2	852	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	166					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GACTATGACCGCAAGAGGGAC	0.488													A	72130894	G	A	72130894	3	1	14	1	0	0	0	0	1	0	0	0	4511	1087	38	1	503	1	DHX38	16	72130894	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		72130894	18223859	38	986											
OR3A1	4994	broad.mit.edu	37	17	3195464	3195464	+	Missense_Mutation	SNP	C	C	T	rs143631940		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:3195464C>T	uc002fvh.1	-	0	413	c.413G>A	c.(412-414)cGc>cAc	p.R138H		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTGACTCATGCGGGTGCTGTA	0.582													T	3195464	C	T	3195464	3	4	14	1	0	0	0	0	1	0	0	0	11037	768	27	1	538	1	OR3A1	17	3195464	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		3195464	77999746	39	987											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	14	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	4382074	7577538	73617672	40	988											
CALR3	125972	broad.mit.edu	37	19	16593572	16593572	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:16593572C>T	uc002ned.2	-	5	766	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	235	4 X approximate repeats.|P-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CTGGTGCTGGCGTCCAGAAAA	0.498													T	16593572	C	T	16593572	3	4	14	1	0	0	0	0	1	0	0	0	2593	768	27	1	467	1	CALR3	19	16593572	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		16593572	42535411	41	989											
ZNF790	388536	broad.mit.edu	37	19	37310870	37310870	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:37310870G>A	uc021utk.1	-	4	805	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Nonsense_Mutation_p.Q126*|ZNF790_uc021utl.1_Nonsense_Mutation_p.Q126*|ZNF790_uc021utm.1_Nonsense_Mutation_p.Q126*	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTTGAAACTGAGTGTTGCCT	0.383													A	37310870	G	A	37310870	4	1	14	1	0	0	0	0	0	1	0	0	18159	1299	45	3	1538	3	ZNF790	19	37310870	Nonsense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	20717298	37310870	21818113	42	990											
SIGLEC6	946	broad.mit.edu	37	19	52033694	52033694	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:52033694C>T	uc002pwy.3	-	3	959	c.751G>A	c.(751-753)Gca>Aca	p.A251T	SIGLEC6_uc002pwz.3_Intron|SIGLEC6_uc010ydb.2_Intron|SIGLEC6_uc010ydc.2_Missense_Mutation_p.A262T|SIGLEC6_uc002pxa.3_Missense_Mutation_p.A251T|SIGLEC6_uc010eoz.2_Missense_Mutation_p.A240T|SIGLEC6_uc010epa.2_Missense_Mutation_p.A240T|SIGLEC6_uc010epb.2_Missense_Mutation_p.A204T	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	251	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.A251T(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TTCCTACCTGCGCTGTTTCCT	0.562													T	52033694	C	T	52033694	3	4	14	1	0	0	0	0	1	0	0	0	14312	768	27	1	630	1	SIGLEC6	19	52033694	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	14722824	52033694	7095289	43	991											
DEFB125	245938	broad.mit.edu	37	20	77035	77035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:77035C>T	uc002wcw.3	+	1	448	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	150					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACCACCTTCTCAGACAGCTCT	0.428													T	77035	C	T	77035	4	4	14	1	0	0	0	0	0	1	0	0	4411	827	29	3	454	3	DEFB125	20	77035	Nonsense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		77035	62948485	44	992											
ZNF343	79175	broad.mit.edu	37	20	2464182	2464182	+	Silent	SNP	A	A	G			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:2464182A>G	uc002wge.1	-	5	1913	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	ZNF343_uc010gao.1_Silent_p.S475S|ZNF343_uc002wgd.1_Silent_p.S385S	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S475S(4)		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						GTGATTTCCGACTAAAGCCTC	0.527													G	2464182	A	G	2464182	2	3	14	1	0	0	0	0	0	0	0	1	17855	272	10	4		4	ZNF343	20	2464182	Silent	SNP	A	TCGA-06-0129-01A-01D-1490-08	2387147	2464182	60561338	45	993											
CEP250	11190	broad.mit.edu	37	20	34084435	34084436	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:34084435_34084436delAG	uc021wco.1	+	24	3844_3845	c.3197_3198delAG	c.(3196-3198)cagfs	p.Q1066fs	CEP250_uc010zve.2_Frame_Shift_Del_p.Q434fs	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1066	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAAAGGAACAGAGACTCCTTG	0.48													-	34084436	AG	-	34084435	7	5	14	1	0	1	0	1	0	0	0	0	3252	188	7	0	3283	0	CEP250	20	34084435	Frame_Shift_Del	DEL	AG	TCGA-06-0129-01A-01D-1490-08	31620253	34084435	28941085	46	994											
HMOX1	3162	broad.mit.edu	37	22	35783113	35783113	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr22:35783113G>A	uc003ant.2	+	2	687	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_002133	NP_002124	P09601	HMOX1_HUMAN	Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA.	194					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	GATGACTCCCGCAGTCAGGCA	0.622													A	35783113	G	A	35783113	3	1	14	1	0	0	0	0	1	0	0	0	7243	1087	38	1	590	1	HMOX1	22	35783113	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		35783113	15521453	47	995											
MYH9	4627	broad.mit.edu	37	22	36745230	36745232	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr22:36745230_36745232delTGA	uc003apg.3	-	1	281_283	c.50_52delTCA	c.(49-54)atcaac>aac	p.I17del	MYH9_uc003api.1_In_Frame_Del_p.I17del	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	17	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCGGATTGTTGATGAAGTTTTT	0.542			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				-	36745232	TGA	-	36745230	7	5	14	1	0	1	0	1	0	0	0	0	10042	1812	63	0	5990	0	MYH9	22	36745230	In_Frame_Del	DEL	TGA	TCGA-06-0129-01A-01D-1490-08	962117	36745230	14559336	48	996											
P2RY8	286530	broad.mit.edu	37	X	1584564	1584564	+	Silent	SNP	C	C	T			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chrX:1584564C>T	uc022brv.1	-	0	888	c.888G>A	c.(886-888)gcG>gcA	p.A296A	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.A296A	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	296						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				ATTCCCGGGACGCAAAGTAAT	0.602			T	CRLF2	"B-ALL, Downs associated ALL"								T	1584564	C	T	1584564	2	4	14	1	0	0	0	0	0	0	0	1	11355	523	19	1		1	P2RY8	23	1584564	Silent	SNP	C	TCGA-06-0129-01A-01D-1490-08		1584564	153685996	49	997											
ATRX	546	broad.mit.edu	37	X	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs141180098		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chrX:76938089_76938092delTCTC	uc004ecp.4	-	8	2888_2891	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.E886fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.E848fs|ATRX_uc004eco.4_Frame_Shift_Del_p.E671fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E818fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E857fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E831fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	886					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.E886fs*18(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938092	TCTC	-	76938089	7	5	14	1	0	1	0	1	0	0	0	0	1208	1667	58	0	4927	0	ATRX	23	76938089	Frame_Shift_Del	DEL	TCTC	TCGA-06-0129-01A-01D-1490-08	75353525	76938089	78332471	50	998											
CLCN6	1185	broad.mit.edu	37	1	11897130	11897130	+	Missense_Mutation	SNP	G	G	C	rs137976806		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:11897130G>C	uc001ate.4	+	18	2168	c.2055G>C	c.(2053-2055)gaG>gaC	p.E685D	CLCN6_uc010oat.2_Missense_Mutation_p.E401D|CLCN6_uc010oau.2_Missense_Mutation_p.E663D	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	685					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGCGAGCTACGGAACA	0.622													C	11897130	G	C	11897130	3	2	15	1	0	0	0	0	1	0	0	0	3467	962	34	5	2139	5	CLCN6	1	11897130	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		11897130	237353491	1	999											
CSMD2	114784	broad.mit.edu	37	1	34035009	34035009	+	Missense_Mutation	SNP	T	T	C	rs143469891	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:34035009T>C	uc001bxm.1	-	51	8273	c.8096A>G	c.(8095-8097)aAt>aGt	p.N2699S	CSMD2_uc001bxn.1_Missense_Mutation_p.N2701S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2701	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGAGCCCATTGGCCATGCA	0.547													C	34035009	T	C	34035009	3	2	15	1	0	0	0	0	1	0	0	0	3945	1493	52	4	2429	4	CSMD2	1	34035009	Missense_Mutation	SNP	T	TCGA-06-0130-01A-01D-1490-08	22137879	34035009	215215612	2	1000											
ZC3H12A	80149	broad.mit.edu	37	1	37948728	37948728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:37948728G>A	uc001cbb.4	+	5	1466	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZC3H12A_uc001cbc.1_Missense_Mutation_p.G234D	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	439					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGACTCGGGCATTGGCTCC	0.662													A	37948728	G	A	37948728	3	1	15	1	0	0	0	0	1	0	0	0	17558	1203	42	3	1334	3	ZC3H12A	1	37948728	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	3913719	37948728	211301893	3	1001											
CACNA1E	777	broad.mit.edu	37	1	181700365	181700365	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:181700365C>A	uc009wxt.3	+	18	2490	c.2295C>A	c.(2293-2295)caC>caA	p.H765Q	CACNA1E_uc001gow.3_Missense_Mutation_p.H765Q|CACNA1E_uc009wxs.3_Intron|CACNA1E_uc001gox.1_5'Flank	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	765					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCAGCCACCTGTATGTGT	0.522													A	181700365	C	A	181700365	3	1	15	1	0	0	0	0	1	0	0	0	2542	506	18	5	2369	5	CACNA1E	1	181700365	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	143751637	181700365	67550256	4	1002											
TTN	7273	broad.mit.edu	37	2	179458768	179458768	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr2:179458768C>T	uc021vsy.1	-	245	50873	c.50648G>A	c.(50647-50649)cGt>cAt	p.R16883H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10578H|TTN_uc021vta.1_Missense_Mutation_p.R10511H|TTN_uc021vtb.1_Missense_Mutation_p.R10386H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17810	Fibronectin type-III 22.						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)			GGAATCTGAACGTTTGGCCTT	0.418													T	179458768	C	T	179458768	3	4	15	1	0	0	0	0	1	0	0	0	16732	536	19	1	49891	1	TTN	2	179458768	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		179458768	63740605	5	1003											
SF3B1	23451	broad.mit.edu	37	2	198267698	198267698	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr2:198267698C>T	uc002uue.3	-	12	1829	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	594				R -> L (in Ref. 1; AAC97189).	nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AATGATCTCTCGGCCTTCCAC	0.338			Mis		myelodysplastic syndrome								T	198267698	C	T	198267698	3	4	15	1	0	0	0	0	1	0	0	0	14149	884	31	2	2185	2	SF3B1	2	198267698	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	18808930	198267698	44931675	6	1004											
PLCD1	5333	broad.mit.edu	37	3	38052749	38052749	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:38052749G>A	uc003chm.3	-	4	1163	c.809C>T	c.(808-810)gCg>gTg	p.A270V	PLCD1_uc003chn.3_Missense_Mutation_p.A249V	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	249					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAGGGCCAGCGCAGGCCCTGC	0.687													A	38052749	G	A	38052749	3	1	15	1	0	0	0	0	1	0	0	0	12031	1087	38	1	1568	1	PLCD1	3	38052749	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		38052749	159969681	7	1005											
CX3CR1	1524	broad.mit.edu	37	3	39307436	39307436	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:39307436C>T	uc021wwc.1	-	1	701	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	CX3CR1_uc021wwa.1_Missense_Mutation_p.V189M|CX3CR1_uc021wwb.1_Missense_Mutation_p.V189M|CX3CR1_uc003cjl.3_Missense_Mutation_p.V189M|CX3CR1_uc021wwd.1_Missense_Mutation_p.V189M	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	189					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGCGGAGCACGGGCCAGATT	0.483													T	39307436	C	T	39307436	3	4	15	1	0	0	0	0	1	0	0	0	4075	536	19	1	506	1	CX3CR1	3	39307436	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	1254687	39307436	158714994	8	1006											
CLEC3B	7123	broad.mit.edu	37	3	45077251	45077251	+	Silent	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:45077251C>T	uc003cok.4	+	2	540	c.444C>T	c.(442-444)acC>acT	p.T148T		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	148	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGACATGACCGGCGCCCGCA	0.667													T	45077251	C	T	45077251	2	4	15	1	0	0	0	0	0	0	0	1	3511	639	23	2		2	CLEC3B	3	45077251	Silent	SNP	C	TCGA-06-0130-01A-01D-1490-08	5769815	45077251	152945179	9	1007											
ARMC8	25852	broad.mit.edu	37	3	137991889	137991889	+	Silent	SNP	A	A	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:137991889A>G	uc003esa.1	+	17	1885	c.1518A>G	c.(1516-1518)ttA>ttG	p.L506L	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.L489L|ARMC8_uc011bmg.1_Silent_p.L453L|ARMC8_uc011bmh.1_Silent_p.L447L|ARMC8_uc003esb.1_Silent_p.L478L|ARMC8_uc003esc.1_Silent_p.L278L|ARMC8_uc003esf.1_Silent_p.L89L	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	520							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TCCGGTTATTATCAGATTCAG	0.368													G	137991889	A	G	137991889	2	3	15	1	0	0	0	0	0	0	0	1	957	446	16	4		4	ARMC8	3	137991889	Silent	SNP	A	TCGA-06-0130-01A-01D-1490-08	92914638	137991889	60030541	10	1008											
TEC	7006	broad.mit.edu	37	4	48140944	48140944	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr4:48140944C>T	uc003gxz.3	-	15	1722	c.1631G>A	c.(1630-1632)aGc>aAc	p.S544N		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	544	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATCTGATTTGCTGCTGAAGCG	0.438													T	48140944	C	T	48140944	3	4	15	1	0	0	0	0	1	0	0	0	15739	797	28	3	276	3	TEC	4	48140944	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		48140944	143013332	11	1009											
KIAA0922	23240	broad.mit.edu	37	4	154517485	154517485	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr4:154517485G>A	uc010ipp.3	+	19	2123	c.2071G>A	c.(2071-2073)Gta>Ata	p.V691I	KIAA0922_uc003inm.4_Missense_Mutation_p.V690I|KIAA0922_uc010ipq.3_Missense_Mutation_p.V459I	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	690						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAGGGTTGGCGTAGTTTTCAC	0.423													A	154517485	G	A	154517485	3	1	15	1	0	0	0	0	1	0	0	0	8201	1145	40	1	2149	1	KIAA0922	4	154517485	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	106376541	154517485	36636791	12	1010											
CYP21A2	1589	broad.mit.edu	37	6	32006249	32006249	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr6:32006249G>A	uc003nze.2	+	0	157	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CYP21A2_uc003nzf.2_Missense_Mutation_p.R17H	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	16					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GCTGGCGCCCGCCTGCTGTGG	0.677													A	32006249	G	A	32006249	3	1	15	1	0	0	0	0	1	0	0	0	4153	1087	38	1	1573	1	CYP21A2	6	32006249	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		32006249	139108818	13	1011											
COL12A1	1303	broad.mit.edu	37	6	75797410	75797410	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr6:75797410G>A	uc021zbv.1	-	63	9099	c.9064C>T	c.(9064-9066)Ccc>Tcc	p.P3022S	COL12A1_uc021zbw.1_Missense_Mutation_p.P1858S|COL12A1_uc003phs.3_Missense_Mutation_p.P3022S|COL12A1_uc003pht.3_Missense_Mutation_p.P1858S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3022	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.P3022T(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGCCAGGGGGACCTCTTGAA	0.522													A	75797410	G	A	75797410	3	1	15	1	0	0	0	0	1	0	0	0	3669	1174	41	3	135	3	COL12A1	6	75797410	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	43791161	75797410	95317657	14	1012											
MEST	4232	broad.mit.edu	37	7	130139717	130139717	+	Silent	SNP	T	T	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr7:130139717T>A	uc003vqg.3	+	7	792	c.536_splice	c.e7-1	p.G179_splice	MEST_uc003vqc.3_Splice_Site_p.G170_splice|MEST_uc003vqd.3_Splice_Site_p.G170_splice|MEST_uc022alp.1_Splice_Site_p.G170_splice|MEST_uc003vqf.3_Splice_Site_p.G170_splice|MEST_uc011kph.2_Splice_Site_p.G165_splice	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	179					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CTTCTACAGGTATCTTTCCTG	0.413													A	130139717	T	A	130139717	2	1	15	1	0	0	0	0	0	0	0	1	9484	1652	57	5		5	MEST	7	130139717	Silent	SNP	T	TCGA-06-0130-01A-01D-1490-08		130139717	28998946	15	1013											
OR2F2	135948	broad.mit.edu	37	7	143632696	143632696	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr7:143632696T>G	uc011ktv.2	+	0	371	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H123Y(2)		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)					GACCGCCATGTGGCTGTGTCT	0.562													G	143632696	T	G	143632696	3	3	15	1	0	0	0	0	1	0	0	0	10997	1696	59	5	373	5	OR2F2	7	143632696	Missense_Mutation	SNP	T	TCGA-06-0130-01A-01D-1490-08	13492979	143632696	15505967	16	1014											
FBXO32	114907	broad.mit.edu	37	8	124518764	124518764	+	Silent	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr8:124518764C>T	uc003yqr.3	-	6	941	c.702G>A	c.(700-702)ctG>ctA	p.L234L	FBXO32_uc003yqp.2_Silent_p.L89L|FBXO32_uc010mdk.3_Silent_p.L141L	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.	234	F-box.									autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCATGATGTTCAGTTGTAGGC	0.622													T	124518764	C	T	124518764	2	4	15	1	0	0	0	0	0	0	0	1	5742	813	29	3		3	FBXO32	8	124518764	Silent	SNP	C	TCGA-06-0130-01A-01D-1490-08		124518764	21845258	17	1015											
TEK	7010	broad.mit.edu	37	9	27206739	27206739	+	Missense_Mutation	SNP	C	C	T	rs147231791	by1000genomes	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr9:27206739C>T	uc011lno.2	+	13	2837	c.2395C>T	c.(2395-2397)Cgc>Tgc	p.R799C	TEK_uc003zqi.4_Missense_Mutation_p.R842C|TEK_uc011lnp.2_Missense_Mutation_p.R694C|TEK_uc003zqj.1_Missense_Mutation_p.R776C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	842					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTTAAGGCGCGCATCAAGAA	0.453													T	27206739	C	T	27206739	3	4	15	1	0	0	0	0	1	0	0	0	15748	768	27	1	2582	1	TEK	9	27206739	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		27206739	114006692	18	1016											
OR4C6	219432	broad.mit.edu	37	11	55433335	55433335	+	Silent	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr11:55433335G>A	uc010rik.2	+	0	693	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231R(2)|p.R231W(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTAAAGGGCGGCACAAAGCCC	0.507													A	55433335	G	A	55433335	2	1	15	1	0	0	0	0	0	0	0	1	11052	1190	42	3		3	OR4C6	11	55433335	Silent	SNP	G	TCGA-06-0130-01A-01D-1490-08		55433335	79573181	19	1017											
HELB	92797	broad.mit.edu	37	12	66725048	66725048	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr12:66725048G>T	uc001sti.2	+	11	2813	c.2785G>T	c.(2785-2787)Gag>Tag	p.E929*	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	929					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GATTGCAGAGGAGTCTCAGCT	0.532													T	66725048	G	T	66725048	4	4	15	1	0	0	0	0	0	1	0	0	7045	1175	41	5	2831	5	HELB	12	66725048	Nonsense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		66725048	67126847	20	1018											
RB1	5925	broad.mit.edu	37	13	49039505	49039505	+	Splice_Site	SNP	G	G	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr13:49039505G>T	uc001vcb.3	+	23	2655	c.2489_splice	c.e23+1	p.R830_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	830	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAAGATCAAGGTGTGTGTTTT	0.358		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	49039505	G	T	49039505	5	4	15	1	0	0	0	0	0	0	1	0	13098	1275	44	5	2580	5	RB1	13	49039505	Splice_Site	SNP	G	TCGA-06-0130-01A-01D-1490-08		49039505	66130373	21	1019											
C14orf37	145407	broad.mit.edu	37	14	58605421	58605421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr14:58605421delT	uc010tro.2	-	2	968	c.770delA	c.(769-771)aatfs	p.N257fs	C14orf37_uc001xdc.3_Frame_Shift_Del_p.N219fs|C14orf37_uc001xdd.3_Frame_Shift_Del_p.N219fs|C14orf37_uc001xde.3_Frame_Shift_Del_p.N219fs	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	219						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGTCTTTGGATTGGTGGTTAG	0.448													-	58605421	T	-	58605421	7	5	15	1	0	1	0	1	0	0	0	0	1771	1493	52	0	1696	0	C14orf37	14	58605421	Frame_Shift_Del	DEL	T	TCGA-06-0130-01A-01D-1490-08		58605421	48744119	22	1020											
ZSCAN29	146050	broad.mit.edu	37	15	43658653	43658653	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr15:43658653G>A	uc001zrk.1	-	2	1024	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	ZSCAN29_uc001zrj.1_Missense_Mutation_p.R173W|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R292W|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.R292W	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	293					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		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;8.97e-07)		TCCAGGGTCCGGAGGAAGCCA	0.542													A	43658653	G	A	43658653	3	1	15	1	0	0	0	0	1	0	0	0	18233	1115	39	2	1693	2	ZSCAN29	15	43658653	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		43658653	58872739	23	1021											
FANCI	55215	broad.mit.edu	37	15	89859689	89859689	+	Nonstop_Mutation	SNP	A	A	C			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr15:89859689A>C	uc010bnp.1	+	37	4076	c.3986A>C	c.(3985-3987)tAa>tCa	p.*1329S	FANCI_uc002bnm.1_Nonstop_Mutation_p.*1269S|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Nonstop_Mutation_p.*1089S|FANCI_uc002bnq.1_Nonstop_Mutation_p.*742S|POLG_uc002bns.4_3'UTR|POLG_uc002bnr.4_3'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	0					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGAAAAAATAAATGAAATGC	0.438								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C	89859689	A	C	89859689	4	2	15	1	0	0	0	0	0	0	0	0	5669	369	13	5	4132	5	FANCI	15	89859689	Nonstop_Mutation	SNP	A	TCGA-06-0130-01A-01D-1490-08	46201036	89859689	12671703	24	1022											
CHST5	23563	broad.mit.edu	37	16	75563927	75563927	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr16:75563927C>T	uc002fej.1	-	4	695	c.374G>A	c.(373-375)cGc>cAc	p.R125H	CHST5_uc002fei.3_Missense_Mutation_p.R119H|CHST5_uc021tlk.1_Missense_Mutation_p.R119H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	119					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AAAGATAGAGCGCATCAGGTC	0.617													T	75563927	C	T	75563927	3	4	15	1	0	0	0	0	1	0	0	0	3407	768	27	1	883	1	CHST5	16	75563927	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		75563927	14790826	25	1023											
KARS	3735	broad.mit.edu	37	16	75670442	75670442	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr16:75670442C>G	uc002feq.3	-	3	440	c.392G>C	c.(391-393)aGg>aCg	p.R131T	KARS_uc002fer.3_Missense_Mutation_p.R159T|KARS_uc010cgz.3_5'UTR	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	131					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GGCATGGATCCTACCTAGAAA	0.408													G	75670442	C	G	75670442	3	3	15	1	0	0	0	0	1	0	0	0	7980	681	24	5	1445	5	KARS	16	75670442	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	106515	75670442	14684311	26	1024											
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr17:7578457C>T	uc002gim.2	-	4	667	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(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)		GGCCATGGCGCGGACGCGGGT	0.627		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)			T	7578457	C	T	7578457	3	4	15	1	0	0	0	0	1	0	0	0	16378	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		7578457	73616753	27	1025											
CYP4F2	8529	broad.mit.edu	37	19	15989675	15989675	+	Missense_Mutation	SNP	C	C	T	rs143677430	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:15989675C>T	uc002nbs.1	-	12	1519	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	CYP4F2_uc010xot.1_Missense_Mutation_p.R341H	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	490					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGCAGGACGCGGAAGCGCAG	0.672													T	15989675	C	T	15989675	3	4	15	1	0	0	0	0	1	0	0	0	4188	768	27	1	97	1	CYP4F2	19	15989675	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		15989675	43139308	28	1026											
ZNF578	147660	broad.mit.edu	37	19	53014344	53014344	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:53014344G>T	uc002pzp.4	+	5	954	c.710G>T	c.(709-711)gGc>gTc	p.G237V		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AATGAGACTGGCGAAGCCTTT	0.313													T	53014344	G	T	53014344	3	4	15	1	0	0	0	0	1	0	0	0	18007	1203	42	5	720	5	ZNF578	19	53014344	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	37024669	53014344	6114639	29	1027											
LAIR1	3903	broad.mit.edu	37	19	54875933	54875933	+	Silent	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:54875933G>A	uc002qfk.1	-	1	349	c.39C>T	c.(37-39)ctC>ctT	p.L13L	LAIR1_uc002qfl.1_Silent_p.L13L|LAIR1_uc002qfm.1_Silent_p.L13L|LAIR1_uc002qfn.1_Silent_p.L13L|LAIR1_uc010yex.2_Silent_p.L7L|LAIR1_uc002qfo.3_Intron	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	13						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGGCCAGGCAGAGCACTGGAA	0.617													A	54875933	G	A	54875933	2	1	15	1	0	0	0	0	0	0	0	1	8602	929	33	3		3	LAIR1	19	54875933	Silent	SNP	G	TCGA-06-0130-01A-01D-1490-08	1861589	54875933	4253050	30	1028											
PTPRA	5786	broad.mit.edu	37	20	3003414	3003414	+	Missense_Mutation	SNP	G	G	A	rs117251752	by1000genomes	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:3003414G>A	uc010zqd.2	+	14	1758	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	PTPRA_uc002whj.3_Missense_Mutation_p.V470M|PTPRA_uc002whk.3_Missense_Mutation_p.V461M|PTPRA_uc002whl.3_Missense_Mutation_p.V461M|PTPRA_uc002whm.3_Missense_Mutation_p.V237M|PTPRA_uc002whn.3_Missense_Mutation_p.V461M|PTPRA_uc002who.3_Missense_Mutation_p.V133M	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	470	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAGGTGGACGTGTATGGCTT	0.577													A	3003414	G	A	3003414	3	1	15	1	0	0	0	0	1	0	0	0	12795	1145	40	1	1458	1	PTPRA	20	3003414	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		3003414	60022106	31	1029											
KIF16B	55614	broad.mit.edu	37	20	16496298	16496298	+	Silent	SNP	G	G	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:16496298G>A	uc002wpg.2	-	3	402	c.243C>T	c.(241-243)acC>acT	p.T81T	KIF16B_uc010gch.2_Silent_p.T81T|KIF16B_uc010gci.2_Silent_p.T81T|KIF16B_uc010gcj.2_Silent_p.T81T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	81	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGTGCCGAGGGTTTTGAAAA	0.373													A	16496298	G	A	16496298	2	1	15	1	0	0	0	0	0	0	0	1	8278	1219	43	3		3	KIF16B	20	16496298	Silent	SNP	G	TCGA-06-0130-01A-01D-1490-08	13492884	16496298	46529222	32	1030											
WFDC8	90199	broad.mit.edu	37	20	44181787	44181787	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:44181787T>C	uc002xow.3	-	4	653	c.574A>G	c.(574-576)Agg>Ggg	p.R192G	WFDC8_uc002xox.3_Missense_Mutation_p.R192G	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	192	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GTCCAGGCCCTGGCACAAACA	0.502													C	44181787	T	C	44181787	3	2	15	1	0	0	0	0	1	0	0	0	17353	1579	55	4	159	4	WFDC8	20	44181787	Missense_Mutation	SNP	T	TCGA-06-0130-01A-01D-1490-08	27685489	44181787	18843733	33	1031											
TPTE	7179	broad.mit.edu	37	21	10951271	10951271	+	Silent	SNP	T	T	A			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr21:10951271T>A	uc002yip.1	-	9	809	c.441A>T	c.(439-441)gtA>gtT	p.V147V	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.V129V|TPTE_uc002yir.1_Silent_p.V109V|TPTE_uc010gkv.1_Silent_p.V9V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	147					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		CTTACCTTTCTACAAATACTC	0.358													A	10951271	T	A	10951271	2	1	15	1	0	0	0	0	0	0	0	1	16427	1509	53	5		5	TPTE	21	10951271	Silent	SNP	T	TCGA-06-0130-01A-01D-1490-08		10951271	37178624	34	1032											
RNF207	388591	broad.mit.edu	37	1	6271141	6271141	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:6271141C>T	uc001amg.3	+	11	1246	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	RNF207_uc010nzp.1_Non-coding_Transcript	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	Homo sapiens ring finger protein 207 (RNF207), mRNA.	358						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCTGCTGGGGCCACGTCGGGT	0.667													T	6271141	C	T	6271141	3	4	16	1	0	0	0	0	1	0	0	0	13474	739	26	3	1114	3	RNF207	1	6271141	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		6271141	242979480	1	1033											
CAMTA1	23261	broad.mit.edu	37	1	7723936	7723936	+	Silent	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:7723936C>T	uc001aoi.3	+	8	1536	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACAAGTTCGCCTTTCCCACCA	0.652			T	WWTR1	epitheliod hemangioendothelioma								T	7723936	C	T	7723936	2	4	16	1	0	0	0	0	0	0	0	1	2613	668	24	3		3	CAMTA1	1	7723936	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	1452795	7723936	241526685	2	1034			1	4		2	2	62	C		7.487585e-05
CAMTA1	23261	broad.mit.edu	37	1	7723997	7723997	+	Silent	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:7723997C>T	uc001aoi.3	+	8	1597	c.1390C>T	c.(1390-1392)Ctg>Ttg	p.L464L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCCGAAGAGCTGGTCCTCTC	0.597			T	WWTR1	epitheliod hemangioendothelioma								T	7723997	C	T	7723997	2	4	16	1	0	0	0	0	0	0	0	1	2613	796	28	3		3	CAMTA1	1	7723997	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	61	7723997	241526624	3	1035			1	4		2	2	62	C		7.487585e-05
FHL3	2275	broad.mit.edu	37	1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:38463709G>A	uc001cck.3	-	3	606	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_uc001ccm.3_Missense_Mutation_p.P35S|FHL3_uc009vvl.2_Missense_Mutation_p.P143S	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	143	LIM zinc-binding 2.				muscle organ development		zinc ion binding	p.P143S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622													A	38463709	G	A	38463709	3	1	16	1	0	0	0	0	1	0	0	0	5880	1203	42	3	427	3	FHL3	1	38463709	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	30739712	38463709	210786912	4	1036											
PSMA5	5686	broad.mit.edu	37	1	109964523	109964523	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:109964523C>T	uc001dxn.3	-	1	173	c.55G>A	c.(55-57)Gga>Aga	p.G19R	PSMA5_uc010ovj.2_Intron|PSMA5_uc021ord.1_5'UTR|PSMA5_uc021ore.1_5'UTR	NM_002790	NP_001186703	P28066	PSA5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.	19					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	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		AATAATCTTCCTTCGGGAGAA	0.348													T	109964523	C	T	109964523	3	4	16	1	0	0	0	0	1	0	0	0	12670	690	24	3	702	3	PSMA5	1	109964523	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	71500814	109964523	139286098	5	1037											
SPAG17	200162	broad.mit.edu	37	1	118640437	118640437	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:118640437T>C	uc001ehk.2	-	6	935	c.867A>G	c.(865-867)atA>atG	p.I289M		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	289						cilium|flagellar axoneme|microtubule				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)		TAAGCTCTTTTATGGCATTTT	0.333													C	118640437	T	C	118640437	3	2	16	1	0	0	0	0	1	0	0	0	14979	1744	61	4	5972	4	SPAG17	1	118640437	Missense_Mutation	SNP	T	TCGA-06-0132-01A-02D-1491-08	8675914	118640437	130610184	6	1038											
NBPF10	100132406	broad.mit.edu	37	1	145325997	145325997	+	Silent	SNP	A	A	G			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:145325997A>G	uc021oul.1	+	29	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1290										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)		AAGTCTTGCAAGACTCACTGG	0.468													G	145325997	A	G	145325997	2	3	16	1	0	0	0	0	0	0	0	1	10193	69	3	4		4	NBPF10	1	145325997	Silent	SNP	A	TCGA-06-0132-01A-02D-1491-08	26685560	145325997	103924624	7	1039											
FCRLA	84824	broad.mit.edu	37	1	161682911	161682911	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:161682911C>T	uc001gbe.3	+	5	1132	c.890C>T	c.(889-891)cCa>cTa	p.P297L	FCRLA_uc001gbg.3_Missense_Mutation_p.P151L|FCRLA_uc009wup.3_Missense_Mutation_p.P107L|FCRLA_uc009wuq.3_Missense_Mutation_p.P56L|FCRLA_uc001gbd.3_Missense_Mutation_p.P291L|FCRLA_uc001gbf.3_Missense_Mutation_p.P202L|FCRLA_uc009wuo.3_Missense_Mutation_p.P157L	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	274	Pro-rich.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACATTGAATCCAGCTCCTCAG	0.582													T	161682911	C	T	161682911	3	4	16	1	0	0	0	0	1	0	0	0	5800	594	21	3	912	3	FCRLA	1	161682911	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	16356914	161682911	87567710	8	1040											
CACNA1S	779	broad.mit.edu	37	1	201012596	201012596	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:201012596C>T	uc001gvv.3	-	39	5088	c.4861G>A	c.(4861-4863)Gtc>Atc	p.V1621I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1621					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTGGCCATGACGGGGGGCAGG	0.567											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	201012596	C	T	201012596	3	4	16	1	0	0	0	0	1	0	0	0	2547	536	19	1	780	1	CACNA1S	1	201012596	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	39329685	201012596	48238025	9	1041											
YIPF4	84272	broad.mit.edu	37	2	32530586	32530586	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:32530586G>A	uc002rok.3	+	5	893	c.626G>A	c.(625-627)aGt>aAt	p.S209N		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Homo sapiens Yip1 domain family, member 4 (YIPF4), mRNA.	209						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCTGCCTACAGTGCTGCTTCA	0.323													A	32530586	G	A	32530586	3	1	16	1	0	0	0	0	1	0	0	0	17477	1029	36	3	648	3	YIPF4	2	32530586	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08		32530586	210668787	10	1042											
RAB11FIP5	26056	broad.mit.edu	37	2	73315741	73315741	+	Silent	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:73315741C>T	uc002siu.4	-	2	1246	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S	RAB11FIP5_uc002sit.4_Silent_p.S257S	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	335					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.S334F(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGACACAGAGCGAAGAGCGGG	0.622													T	73315741	C	T	73315741	2	4	16	1	0	0	0	0	0	0	0	1	12897	755	27	1		1	RAB11FIP5	2	73315741	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	40785155	73315741	169883632	11	1043											
LCT	3938	broad.mit.edu	37	2	136566075	136566075	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:136566075G>A	uc002tuu.1	-	7	3853	c.3842C>T	c.(3841-3843)cCg>cTg	p.P1281L		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1281	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCGTGTTCGGATTGGTCAG	0.493													A	136566075	G	A	136566075	3	1	16	1	0	0	0	0	1	0	0	0	8693	1116	39	2	1981	2	LCT	2	136566075	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	63250334	136566075	106633298	12	1044											
MBD5	55777	broad.mit.edu	37	2	149248058	149248058	+	Silent	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:149248058C>T	uc002twm.4	+	11	5155	c.4158C>T	c.(4156-4158)ggC>ggT	p.G1386G	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.G644G|MBD5_uc002twp.3_Silent_p.G436G	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1386	PWWP.					chromosome|nucleus	chromatin binding|DNA binding	p.G1386G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCAATGTTGGCGACTTGGTCT	0.448													T	149248058	C	T	149248058	2	4	16	1	0	0	0	0	0	0	0	1	9347	755	27	1		1	MBD5	2	149248058	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	12681983	149248058	93951315	13	1045											
SCN3A	6328	broad.mit.edu	37	2	166019113	166019113	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:166019113T>A	uc002ucx.3	-	7	1412	c.920A>T	c.(919-921)aAt>aTt	p.N307I	SCN3A_uc002ucy.3_Missense_Mutation_p.N307I|SCN3A_uc002ucz.3_Missense_Mutation_p.N307I|SCN3A_uc002uda.1_Missense_Mutation_p.N176I|SCN3A_uc002udb.1_Missense_Mutation_p.N176I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	307						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATTGTTACATTAACAAATGT	0.363													A	166019113	T	A	166019113	3	1	16	1	0	0	0	0	1	0	0	0	13918	1493	52	5	5166	5	SCN3A	2	166019113	Missense_Mutation	SNP	T	TCGA-06-0132-01A-02D-1491-08	16771055	166019113	77180260	14	1046											
SCN9A	6335	broad.mit.edu	37	2	167055670	167055670	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:167055670C>A	uc010fpl.3	-	26	5787	c.5446G>T	c.(5446-5448)Gat>Tat	p.D1816Y	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1827						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATGGGCAGATCCATGGCAATG	0.463													A	167055670	C	A	167055670	3	1	16	1	0	0	0	0	1	0	0	0	13925	855	30	5	491	5	SCN9A	2	167055670	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	1036557	167055670	76143703	15	1047											
ZSWIM2	151112	broad.mit.edu	37	2	187693302	187693302	+	Silent	SNP	T	T	C			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:187693302T>C	uc002upu.1	-	8	1351	c.1311A>G	c.(1309-1311)agA>agG	p.R437R		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	437					apoptosis		zinc ion binding			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)			AAATTCCAAGTCTATTTTGTT	0.328													C	187693302	T	C	187693302	2	2	16	1	0	0	0	0	0	0	0	1	18238	1664	58	4		4	ZSWIM2	2	187693302	Silent	SNP	T	TCGA-06-0132-01A-02D-1491-08	20637632	187693302	55506071	16	1048											
ANO7	50636	broad.mit.edu	37	2	242151595	242151595	+	Missense_Mutation	SNP	G	G	A	rs111600763	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:242151595G>A	uc002wax.2	+	15	1913	c.1810G>A	c.(1810-1812)Gtc>Atc	p.V604I		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	604						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTCCTCACCCGTCTACATTGC	0.562													A	242151595	G	A	242151595	3	1	16	1	0	0	0	0	1	0	0	0	702	1145	40	1	1944	1	ANO7	2	242151595	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	54458293	242151595	1047778	17	1049											
CHL1	10752	broad.mit.edu	37	3	383663	383663	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr3:383663G>A	uc003bot.3	+	6	1219	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	CHL1_uc003bou.3_Missense_Mutation_p.V193M|CHL1_uc003bow.2_Missense_Mutation_p.V193M|CHL1_uc011asi.2_Missense_Mutation_p.V193M	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	193	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				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)		CTTCGCAAACGTGGAAGAAAA	0.383													A	383663	G	A	383663	3	1	16	1	0	0	0	0	1	0	0	0	3349	1145	40	1	595	1	CHL1	3	383663	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08		383663	197638767	18	1050											
ZBTB20	26137	broad.mit.edu	37	3	114069362	114069362	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr3:114069362delG	uc003ebi.3	-	3	1743	c.1563delC	c.(1561-1563)cccfs	p.P521fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P448fs|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAAAGGCTTGGGGCCACTGC	0.627													-	114069362	G	-	114069362	7	5	16	1	0	1	0	1	0	0	0	0	17526	1335	47	0	670	0	ZBTB20	3	114069362	Frame_Shift_Del	DEL	G	TCGA-06-0132-01A-02D-1491-08	113685699	114069362	83953068	19	1051											
SPOCK3	50859	broad.mit.edu	37	4	167656159	167656159	+	Silent	SNP	A	A	G			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr4:167656159A>G	uc011cjq.1	-	9	1308	c.1251T>C	c.(1249-1251)atT>atC	p.I417I	SPOCK3_uc021xuf.1_Silent_p.I408I|SPOCK3_uc011cjr.1_Silent_p.I288I|SPOCK3_uc003iri.1_Silent_p.I408I|SPOCK3_uc011cjs.1_Silent_p.I357I|SPOCK3_uc003irj.1_Silent_p.I405I|SPOCK3_uc011cjt.1_Silent_p.I316I|SPOCK3_uc011cjp.2_Silent_p.I365I|SPOCK3_uc011cju.1_Silent_p.I312I|SPOCK3_uc011cjv.1_Silent_p.I310I	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	408	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			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)		catcattcataatatcgtctt	0.363													G	167656159	A	G	167656159	2	3	16	1	0	0	0	0	0	0	0	1	15080	358	13	4		4	SPOCK3	4	167656159	Silent	SNP	A	TCGA-06-0132-01A-02D-1491-08		167656159	23498117	20	1052											
FSTL4	23105	broad.mit.edu	37	5	132556518	132556518	+	Silent	SNP	G	G	A	rs141735817	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr5:132556518G>A	uc003kyn.1	-	11	1598	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	FSTL4_uc003kym.1_Silent_p.D109D	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	460						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGATGATACCGTCGTCGGAGA	0.547													A	132556518	G	A	132556518	2	1	16	1	0	0	0	0	0	0	0	1	6079	1136	40	1		1	FSTL4	5	132556518	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		132556518	48358742	21	1053											
PCDHAC2	9752	broad.mit.edu	37	5	140229589	140229589	+	Silent	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr5:140229589G>A	uc003lhu.2	+	0	2233	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S503S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	517	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S503S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCTCGCTGTCGAGCT	0.672													A	140229589	G	A	140229589	2	1	16	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140229589	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08	7673071	140229589	40685671	22	1054											
LAMB1	3912	broad.mit.edu	37	7	107591684	107591684	+	Silent	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr7:107591684G>A	uc003vev.2	-	21	3611	c.3450C>T	c.(3448-3450)gaC>gaT	p.D1150D	LAMB1_uc003vew.2_Silent_p.D1126D	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1126	Laminin EGF-like 13.				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			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)	GGCACTCCACGTCGGGGTCTC	0.572													A	107591684	G	A	107591684	2	1	16	1	0	0	0	0	0	0	0	1	8610	1136	40	1		1	LAMB1	7	107591684	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		107591684	51546979	23	1055											
SGK223	157285	broad.mit.edu	37	8	8175745	8175745	+	Silent	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr8:8175745G>A	uc003wsh.4	-	4	4140	c.4140C>T	c.(4138-4140)tgC>tgT	p.C1380C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1380							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGTACTGGCAGCAAAGCCAGT	0.642													A	8175745	G	A	8175745	2	1	16	1	0	0	0	0	0	0	0	1	14210	963	34	3		3	SGK223	8	8175745	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		8175745	138188277	24	1056											
PIP5K1B	8395	broad.mit.edu	37	9	71555697	71555697	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr9:71555697A>C	uc004agu.3	+	13	1798	c.1493A>C	c.(1492-1494)tAt>tCt	p.Y498S	PIP5K1B_uc011lrq.2_Missense_Mutation_p.Y498S|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	498						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCTACACTCTATTCAAACAGG	0.443													C	71555697	A	C	71555697	3	2	16	1	0	0	0	0	1	0	0	0	11940	449	16	5	1535	5	PIP5K1B	9	71555697	Missense_Mutation	SNP	A	TCGA-06-0132-01A-02D-1491-08		71555697	69657734	25	1057											
SUSD1	64420	broad.mit.edu	37	9	114840947	114840947	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr9:114840947T>C	uc010mui.3	-	11	1665	c.1624A>G	c.(1624-1626)Aat>Gat	p.N542D	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.N542D|SUSD1_uc010muj.3_Missense_Mutation_p.N542D			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	542						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTACTGATATTAAAGGTCATT	0.488													C	114840947	T	C	114840947	3	2	16	1	0	0	0	0	1	0	0	0	15404	1754	61	4	643	4	SUSD1	9	114840947	Missense_Mutation	SNP	T	TCGA-06-0132-01A-02D-1491-08	43285250	114840947	26372484	26	1058											
ABCG4	64137	broad.mit.edu	37	11	119031668	119031668	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr11:119031668C>T	uc001pvs.3	+	14	2129	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	ABCG4_uc009zar.3_Missense_Mutation_p.P598L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	598	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAACGCTGCCCGTTCCGGGAG	0.567													T	119031668	C	T	119031668	3	4	16	1	0	0	0	0	1	0	0	0	70	652	23	2	1847	2	ABCG4	11	119031668	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		119031668	15974848	27	1059											
TSPAN9	10867	broad.mit.edu	37	12	3387673	3387673	+	Silent	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:3387673G>A	uc001qlp.3	+	3	333	c.150G>A	c.(148-150)tcG>tcA	p.S50S	TSPAN9_uc021qtd.1_Silent_p.S50S	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	50						integral to plasma membrane|membrane fraction		p.P49H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCTTCCCTTCGTTGTCTGCAG	0.597													A	3387673	G	A	3387673	2	1	16	1	0	0	0	0	0	0	0	1	16651	1132	40	1		1	TSPAN9	12	3387673	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		3387673	130464222	28	1060											
OR9K2	441639	broad.mit.edu	37	12	55524385	55524385	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:55524385G>A	uc010spe.2	+	0	833	c.833G>A	c.(832-834)gGt>gAt	p.G278D		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GTGCTGTATGGTGCTGTCTTT	0.443													A	55524385	G	A	55524385	3	1	16	1	0	0	0	0	1	0	0	0	11254	1261	44	3	835	3	OR9K2	12	55524385	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	52136712	55524385	78327510	29	1061											
APOF	319	broad.mit.edu	37	12	56755194	56755194	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:56755194C>T	uc001sle.1	-	1	850	c.796G>A	c.(796-798)Gca>Aca	p.A266T		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	266					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GAGATGTTTGCGTCTTTCTGA	0.493													T	56755194	C	T	56755194	3	4	16	1	0	0	0	0	1	0	0	0	803	768	27	1	188	1	APOF	12	56755194	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	1230809	56755194	77096701	30	1062											
FOXN4	121643	broad.mit.edu	37	12	109719238	109719238	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:109719238G>A	uc001toe.4	-	8	1373	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	FOXN4_uc009zvg.3_Missense_Mutation_p.P220L|FOXN4_uc001tof.4_Missense_Mutation_p.P243L	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	423					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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			large_intestine(5)|lung(9)|ovary(2)	16						CATGATGCTCGGGTCGAGGGC	0.627													A	109719238	G	A	109719238	3	1	16	1	0	0	0	0	1	0	0	0	6022	1116	39	2	293	2	FOXN4	12	109719238	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	52964044	109719238	24132657	31	1063											
SERPINA12	145264	broad.mit.edu	37	14	94953819	94953819	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr14:94953819C>T	uc001ydj.3	-	5	1862	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	356					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			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)		TTCAGCTCAGCCTTGTGCACA	0.597													T	94953819	C	T	94953819	3	4	16	1	0	0	0	0	1	0	0	0	14089	739	26	3	182	3	SERPINA12	14	94953819	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		94953819	12395721	32	1064											
PEPD	5184	broad.mit.edu	37	19	33892682	33892682	+	Silent	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr19:33892682G>A	uc002nur.4	-	11	1045	c.912C>T	c.(910-912)gcC>gcT	p.A304A	PEPD_uc010xrs.2_Silent_p.A240A|PEPD_uc010xrr.2_Silent_p.A263A	NM_000285	NP_000276	P12955	PEPD_HUMAN	Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.	304					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCTCATAGACGGCCTTCTGGT	0.627													A	33892682	G	A	33892682	2	1	16	1	0	0	0	0	0	0	0	1	11728	1103	39	2		2	PEPD	19	33892682	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		33892682	25236301	33	1065											
NLRP12	91662	broad.mit.edu	37	19	54313742	54313742	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr19:54313742C>T	uc002qcj.4	-	2	1391	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.V391M|NLRP12_uc002qci.4_Missense_Mutation_p.V391M|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.V391M	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	391	NACHT.				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			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)		TTGTCCCTCACGTAATTGAAG	0.562													T	54313742	C	T	54313742	3	4	16	1	0	0	0	0	1	0	0	0	10474	536	19	1	2142	1	NLRP12	19	54313742	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	20421060	54313742	4815241	34	1066											
SLC5A4	6527	broad.mit.edu	37	22	32627012	32627012	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr22:32627012C>G	uc003ami.3	-	9	1074	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	358					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCCAACATCAACGCCACAG	0.522													G	32627012	C	G	32627012	3	3	16	1	0	0	0	0	1	0	0	0	14667	826	29	5	931	5	SLC5A4	22	32627012	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		32627012	18677554	35	1067											
CXorf59	286464	broad.mit.edu	37	X	36103467	36103467	+	Silent	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:36103467G>A	uc004ddk.1	+	4	639	c.453G>A	c.(451-453)tcG>tcA	p.S151S		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	151						integral to membrane		p.S151S(2)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CATCAACCTCGCCACCCCAAA	0.333													A	36103467	G	A	36103467	2	1	16	1	0	0	0	0	0	0	0	1	4115	1074	38	1		1	CXorf59	23	36103467	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		36103467	119167093	36	1068											
DCAF12L2	340578	broad.mit.edu	37	X	125299499	125299499	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:125299499G>A	uc004euk.2	-	0	582	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	137										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCCTTGTCCCGCATGAGGGGG	0.642													A	125299499	G	A	125299499	3	1	16	1	0	0	0	0	1	0	0	0	4265	1086	38	1	986	1	DCAF12L2	23	125299499	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	89196032	125299499	29971061	37	1069											
OR13H1	347468	broad.mit.edu	37	X	130678349	130678349	+	Missense_Mutation	SNP	C	C	T	rs149527425	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:130678349C>T	uc011muw.2	+	0	302	c.302C>T	c.(301-303)aCg>aTg	p.T101M	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TTGGCTCAAACGAGTGTCTCC	0.517													T	130678349	C	T	130678349	3	4	16	1	0	0	0	0	1	0	0	0	10943	536	19	1	304	1	OR13H1	23	130678349	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	5378850	130678349	24592211	38	1070											
RPS6KA1	6195	broad.mit.edu	37	1	26885365	26885365	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:26885365C>T	uc001bmr.1	+	13	1315	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	RPS6KA1_uc010ofe.1_Silent_p.T292T|RPS6KA1_uc010off.1_Silent_p.T368T|RPS6KA1_uc001bms.1_Silent_p.T393T|RPS6KA1_uc009vsl.1_Silent_p.T227T	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	384	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCGTGGCCACCGGCCTGATGG	0.647													T	26885365	C	T	26885365	2	4	17	1	0	0	0	0	0	0	0	1	13650	639	23	2		2	RPS6KA1	1	26885365	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		26885365	222365256	1	1071											
MACF1	23499	broad.mit.edu	37	1	39549978	39549978	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:39549978C>T	uc010oir.2	+	1	267	c.75C>T	c.(73-75)agC>agT	p.S25S	MACF1_uc021ols.1_Missense_Mutation_p.R30W|MACF1_uc001cdc.2_Missense_Mutation_p.R30W|MACF1_uc021olt.1_Missense_Mutation_p.R30W			Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	0	Actin-binding.				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.I25V(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)			CAGGAGCGAGCGGTCGGGGAG	0.612													T	39549978	C	T	39549978	3	4	17	1	0	0	0	0	1	0	0	0	9144	759	27	1	90	1	MACF1	1	39549978	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	12664613	39549978	209700643	2	1072											
PDE4DIP	9659	broad.mit.edu	37	1	144873981	144873981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:144873981G>T	uc021ouh.1	-	30	5278	c.4976C>A	c.(4975-4977)tCa>tAa	p.S1659*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.S1659*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.S1615*|PDE4DIP_uc001elv.4_Nonsense_Mutation_p.S666*	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1659					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTGGTTGATGATGGTTTAGA	0.473			T	PDGFRB	MPD								T	144873981	G	T	144873981	4	4	17	1	0	0	0	0	0	1	0	0	11643	1294	45	5	2120	5	PDE4DIP	1	144873981	Nonsense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	105324003	144873981	104376640	3	1073											
MTMR11	10903	broad.mit.edu	37	1	149901596	149901596	+	Silent	SNP	T	T	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:149901596T>C	uc001etl.4	-	15	2111	c.1860A>G	c.(1858-1860)ccA>ccG	p.P620P	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Silent_p.P548P	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	620	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGCAGCCCTGGAGGTAAAG	0.587													C	149901596	T	C	149901596	2	2	17	1	0	0	0	0	0	0	0	1	9940	1567	55	4		4	MTMR11	1	149901596	Silent	SNP	T	TCGA-06-0137-01A-01D-1490-08	5027615	149901596	99349025	4	1074											
NTRK1	4914	broad.mit.edu	37	1	156836717	156836717	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:156836717C>T	uc001fqh.1	+	3	431	c.375C>T	c.(373-375)aaC>aaT	p.N125N	NTRK1_uc001fqf.1_Silent_p.N95N|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.N125N|NTRK1_uc009wsk.1_Silent_p.N125N	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	125					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCTCCTTCAACGCTCTGGAGT	0.587			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			T	156836717	C	T	156836717	2	4	17	1	0	0	0	0	0	0	0	1	10706	535	19	1		1	NTRK1	1	156836717	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	6935121	156836717	92413904	5	1075											
FCRL2	79368	broad.mit.edu	37	1	157739709	157739709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:157739709G>A	uc001fre.2	-	3	601	c.542C>T	c.(541-543)aCg>aTg	p.T181M	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.T181M|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.T181M	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	181	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			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)			GTGAGTCACCGTTTCTGCCTT	0.527													A	157739709	G	A	157739709	3	1	17	1	0	0	0	0	1	0	0	0	5795	1145	40	1	1020	1	FCRL2	1	157739709	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	902992	157739709	91510912	6	1076											
FCAMR	83953	broad.mit.edu	37	1	207135779	207135779	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:207135779C>T	uc001hfa.4	-	4	931	c.431G>A	c.(430-432)cGt>cAt	p.R144H	FCAMR_uc001hfb.3_Missense_Mutation_p.R144H|FCAMR_uc009xca.2_Missense_Mutation_p.R144H|FCAMR_uc021pig.1_Missense_Mutation_p.R59H	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	99	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGGCCCCAGACGGCACCAGTA	0.582													T	207135779	C	T	207135779	3	4	17	1	0	0	0	0	1	0	0	0	5772	536	19	1	1318	1	FCAMR	1	207135779	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	49396070	207135779	42114842	7	1077											
PCNXL2	80003	broad.mit.edu	37	1	233231513	233231513	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:233231513A>G	uc001hvl.2	-	21	4169	c.3934T>C	c.(3934-3936)Ttt>Ctt	p.F1312L	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1312						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAATGGCAAAGAGCTGAGCA	0.473													G	233231513	A	G	233231513	3	3	17	1	0	0	0	0	1	0	0	0	11592	72	3	4	2531	4	PCNXL2	1	233231513	Missense_Mutation	SNP	A	TCGA-06-0137-01A-01D-1490-08	26095734	233231513	16019108	8	1078											
C1orf100	200159	broad.mit.edu	37	1	244528021	244528021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:244528021C>T	uc001iah.3	+	1	132	c.19C>T	c.(19-21)Cga>Tga	p.R7*	C1orf100_uc001iai.3_Nonsense_Mutation_p.R7*	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	Homo sapiens chromosome 1 open reading frame 100 (C1orf100), mRNA.	7										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			CATCCGACTACGAGAATTTAT	0.468													T	244528021	C	T	244528021	4	4	17	1	0	0	0	0	0	1	0	0	1975	528	19	1	21	1	C1orf100	1	244528021	Nonsense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	11296508	244528021	4722600	9	1079											
OR2T10	127069	broad.mit.edu	37	1	248756435	248756435	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:248756435G>A	uc010pzn.2	-	0	635	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TGAAATGACCGTCACAGGTAT	0.458													A	248756435	G	A	248756435	3	1	17	1	0	0	0	0	1	0	0	0	11017	1145	40	1	306	1	OR2T10	1	248756435	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	4228414	248756435	494186	10	1080											
ABCG8	64241	broad.mit.edu	37	2	44078770	44078770	+	Missense_Mutation	SNP	G	G	A	rs143276716		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:44078770G>A	uc002rtq.3	+	3	460	c.370G>A	c.(370-372)Ggc>Agc	p.G124S	ABCG8_uc010yoa.2_Missense_Mutation_p.G124S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	124	ABC transporter.				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			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)				CCGAGGTCACGGCGGCAAGAT	0.617													A	44078770	G	A	44078770	3	1	17	1	0	0	0	0	1	0	0	0	72	1116	39	2	384	2	ABCG8	2	44078770	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		44078770	199120603	11	1081											
CFC1B	653275	broad.mit.edu	37	2	131356244	131356244	+	Missense_Mutation	SNP	G	G	A	rs139623987		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:131356244G>A	uc002tro.1	-	2	609	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_001079530	NP_115934	P0CG36	CFC1B_HUMAN	Homo sapiens cripto, FRL-1, cryptic family 1B (CFC1B), mRNA.	73					gastrulation	extracellular region						Colorectal(110;0.1)					GTAGGGGAGCGGCTCCTCCGG	0.622													A	131356244	G	A	131356244	3	1	17	1	0	0	0	0	1	0	0	0	3280	1116	39	2	1165	2	CFC1B	2	131356244	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	87277474	131356244	111843129	12	1082											
TTN	7273	broad.mit.edu	37	2	179497473	179497473	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:179497473G>A	uc021vsy.1	-	183	35781	c.35556C>T	c.(35554-35556)ttC>ttT	p.F11852F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F5547F|TTN_uc021vta.1_Silent_p.F5480F|TTN_uc021vtb.1_Silent_p.F5355F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12779	Glu-rich.|Pro-rich.						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)			CATCTTTCTCGAAGACTTTAA	0.428													A	179497473	G	A	179497473	2	1	17	1	0	0	0	0	0	0	0	1	16732	1049	37	2		2	TTN	2	179497473	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	48141229	179497473	63701900	13	1083											
ITGA4	3676	broad.mit.edu	37	2	182358131	182358131	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:182358131G>A	uc002unu.3	+	10	1996	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	411					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATGGGATCTCGTCAACCTTCT	0.368													A	182358131	G	A	182358131	2	1	17	1	0	0	0	0	0	0	0	1	7878	1132	40	1		1	ITGA4	2	182358131	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	2860658	182358131	60841242	14	1084											
SERPINE2	5270	broad.mit.edu	37	2	224866465	224866465	+	Silent	SNP	G	G	A	rs3795875		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:224866465G>A	uc010zlr.1	-	1	326	c.189C>T	c.(187-189)atC>atT	p.I63I	SERPINE2_uc002vnu.2_Silent_p.I51I|SERPINE2_uc002vnv.2_Silent_p.I51I	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	51					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGATCACGATGTTGTCAT	0.567													A	224866465	G	A	224866465	2	1	17	1	0	0	0	0	0	0	0	1	14112	1048	37	2		2	SERPINE2	2	224866465	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	42508334	224866465	18332908	15	1085											
B3GNT7	93010	broad.mit.edu	37	2	232262645	232262645	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:232262645C>T	uc002vrs.3	+	1	395	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	72					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCTGCGCCCACGCCCATGGCC	0.617													T	232262645	C	T	232262645	3	4	17	1	0	0	0	0	1	0	0	0	1262	536	19	1	221	1	B3GNT7	2	232262645	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	7396180	232262645	10936728	16	1086											
SCN5A	6331	broad.mit.edu	37	3	38592883	38592883	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38592883G>A	uc021wvo.1	-	26	5032	c.4980C>T	c.(4978-4980)atC>atT	p.I1660I	SCN5A_uc021wvk.1_Silent_p.I1627I|SCN5A_uc021wvl.1_Silent_p.I1606I|SCN5A_uc021wvm.1_Silent_p.I1642I|SCN5A_uc021wvn.1_Silent_p.I1659I|SCN5A_uc021wvp.1_Silent_p.I1660I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1472I|SCN5A_uc021wvi.1_Silent_p.I1526I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1660			I -> V (in BRS1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.I1660I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAGCAGCCCGATGTTGAAGA	0.567													A	38592883	G	A	38592883	2	1	17	1	0	0	0	0	0	0	0	1	13922	1048	37	2		2	SCN5A	3	38592883	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08		38592883	159429547	17	1087											
SCN10A	6336	broad.mit.edu	37	3	38765036	38765036	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38765036G>A	uc003ciq.3	-	17	3237	c.3237C>T	c.(3235-3237)gaC>gaT	p.D1079D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1079					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCTTGTGTCGTCCACTCCCT	0.597													A	38765036	G	A	38765036	2	1	17	1	0	0	0	0	0	0	0	1	13912	1136	40	1		1	SCN10A	3	38765036	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	172153	38765036	159257394	18	1088											
SCN10A	6336	broad.mit.edu	37	3	38770224	38770224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38770224G>A	uc003ciq.3	-	14	2449	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	817					sensory perception	voltage-gated sodium channel complex		p.R817*(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATATTTTTTCGGTTGTTACGG	0.532													A	38770224	G	A	38770224	4	1	17	1	0	0	0	0	0	1	0	0	13912	1124	39	2	3473	2	SCN10A	3	38770224	Nonsense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	5188	38770224	159252206	19	1089											
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:96706525C>T	uc010how.1	+	2	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443													T	96706525	C	T	96706525	3	4	17	1	0	0	0	0	1	0	0	0	5171	884	31	2	812	2	EPHA6	3	96706525	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	57936301	96706525	101315905	20	1090											
TMPRSS7	344805	broad.mit.edu	37	3	111782428	111782428	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:111782428C>T	uc010hqb.2	+	9	1296	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	TMPRSS7_uc011bhr.1_Missense_Mutation_p.R231C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	502	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCAGGCCCAGCGTTGTGATGG	0.383													T	111782428	C	T	111782428	3	4	17	1	0	0	0	0	1	0	0	0	16249	768	27	1	1160	1	TMPRSS7	3	111782428	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	15075903	111782428	86240002	21	1091											
POLQ	10721	broad.mit.edu	37	3	121212455	121212455	+	Silent	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:121212455G>T	uc003eee.4	-	14	2521	c.2392C>A	c.(2392-2394)Cgg>Agg	p.R798R	POLQ_uc003eed.3_5'Flank	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	798					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGATACCCGAACCAGGTCA	0.488								DNA polymerases (catalytic subunits)					T	121212455	G	T	121212455	2	4	17	1	0	0	0	0	0	0	0	1	12208	1057	37	5		5	POLQ	3	121212455	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	9430027	121212455	76809975	22	1092											
AGTR1	185	broad.mit.edu	37	3	148459240	148459240	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:148459240C>T	uc003ewg.3	+	3	864	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	AGTR1_uc003ewh.3_Missense_Mutation_p.R140C|AGTR1_uc003ewi.3_Missense_Mutation_p.R140C|AGTR1_uc003ewj.3_Missense_Mutation_p.R140C|AGTR1_uc003ewk.3_Missense_Mutation_p.R140C|AGTR1_uc021xfj.1_Missense_Mutation_p.R140C	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	140					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.R140C(2)|p.R140H(1)|p.R139*(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCGCCTTCGACGCACAATGCT	0.473													T	148459240	C	T	148459240	3	4	17	1	0	0	0	0	1	0	0	0	401	536	19	1	420	1	AGTR1	3	148459240	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	27246785	148459240	49563190	23	1093											
RTP2	344892	broad.mit.edu	37	3	187416724	187416724	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:187416724G>A	uc003fro.1	-	1	669	c.240C>T	c.(238-240)cgC>cgT	p.R80R		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	80					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			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)		CCCGCTGGGCGCGGTCCAGGA	0.657													A	187416724	G	A	187416724	2	1	17	1	0	0	0	0	0	0	0	1	13734	1074	38	1		1	RTP2	3	187416724	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	38957484	187416724	10605706	24	1094											
TLR6	10333	broad.mit.edu	37	4	38830432	38830432	+	Frame_Shift_Del	DEL	C	C	-	rs146892714		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr4:38830432delC	uc010ifg.2	-	1	784	c.663delG	c.(661-663)gggfs	p.G221fs	TLR6_uc003gtm.3_Frame_Shift_Del_p.G221fs	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	221					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTGTAAGCACCCTAAAGTAT	0.323													-	38830432	C	-	38830432	7	5	17	1	0	1	0	1	0	0	0	0	15952	494	18	0	1731	0	TLR6	4	38830432	Frame_Shift_Del	DEL	C	TCGA-06-0137-01A-01D-1490-08		38830432	152323844	25	1095											
TMEM156	80008	broad.mit.edu	37	4	39000377	39000377	+	Missense_Mutation	SNP	G	G	A	rs13118782		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr4:39000377G>A	uc003gto.3	-	1	349	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	TMEM156_uc010ifj.3_Missense_Mutation_p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	81						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGAAGTTACGAAAATTGGAG	0.368													A	39000377	G	A	39000377	3	1	17	1	0	0	0	0	1	0	0	0	16070	1058	37	2	669	2	TMEM156	4	39000377	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	169945	39000377	152153899	26	1096											
RAI14	26064	broad.mit.edu	37	5	34823835	34823835	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:34823835A>G	uc003jis.3	+	16	2436	c.1897A>G	c.(1897-1899)Atg>Gtg	p.M633V	RAI14_uc003jir.3_Missense_Mutation_p.M630V|RAI14_uc010iur.3_Missense_Mutation_p.M601V|RAI14_uc011coj.2_Missense_Mutation_p.M630V|RAI14_uc003jit.3_Missense_Mutation_p.M630V|RAI14_uc011cok.2_Missense_Mutation_p.M622V	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	630						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGCTGAGGACATGAAAGAAGC	0.418													G	34823835	A	G	34823835	3	3	17	1	0	0	0	0	1	0	0	0	13008	217	8	4	2007	4	RAI14	5	34823835	Missense_Mutation	SNP	A	TCGA-06-0137-01A-01D-1490-08		34823835	146091425	27	1097											
UGT3A2	167127	broad.mit.edu	37	5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:36035966G>A	uc003jjz.2	-	6	1538	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_uc011cos.2_Missense_Mutation_p.T435M|UGT3A2_uc011cot.2_Missense_Mutation_p.T167M	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	469						integral to membrane	glucuronosyltransferase activity	p.A468T(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)			CTTGAGGTGCGTCGCGCCCCC	0.627													A	36035966	G	A	36035966	3	1	17	1	0	0	0	0	1	0	0	0	16961	1145	40	1	169	1	UGT3A2	5	36035966	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	1212131	36035966	144879294	28	1098											
HEATR7B2	133558	broad.mit.edu	37	5	41067251	41067251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:41067251G>A	uc003jmj.4	-	2	650	c.160C>T	c.(160-162)Cga>Tga	p.R54*	HEATR7B2_uc021xxt.1_Nonsense_Mutation_p.R54*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	54							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TAAATCAATCGTTGGACAATT	0.373													A	41067251	G	A	41067251	4	1	17	1	0	0	0	0	0	1	0	0	7035	1153	40	1	4757	1	HEATR7B2	5	41067251	Nonsense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	5031285	41067251	139848009	29	1099											
SLC27A6	28965	broad.mit.edu	37	5	128302221	128302221	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:128302221G>A	uc003kuy.3	+	1	787	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	SLC27A6_uc003kuz.3_Missense_Mutation_p.V131M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	131					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCTGGGCTGCGTGGTGGCCTT	0.592													A	128302221	G	A	128302221	3	1	17	1	0	0	0	0	1	0	0	0	14530	1145	40	1	393	1	SLC27A6	5	128302221	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	87234970	128302221	52613039	30	1100											
ABLIM3	22885	broad.mit.edu	37	5	148637854	148637854	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:148637854C>T	uc003lpy.2	+	24	2190	c.1939_splice	c.e24-1	p.R647_splice	ABLIM3_uc003lpz.1_Splice_Site_p.R647_splice|ABLIM3_uc003lqa.1_Splice_Site_p.R544_splice|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Splice_Site_p.R614_splice|ABLIM3_uc003lqd.1_Splice_Site_p.R552_splice|ABLIM3_uc003lqe.1_Splice_Site_p.R536_splice|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	647	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTTCAGCGCCACCTGTC	0.582													T	148637854	C	T	148637854	3	4	17	1	0	0	0	0	1	0	0	0	96	782	27	1	2029	1	ABLIM3	5	148637854	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	20335633	148637854	32277406	31	1101											
DOCK2	1794	broad.mit.edu	37	5	169108785	169108785	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:169108785G>A	uc003maf.3	+	6	588	c.508G>A	c.(508-510)Gga>Aga	p.G170R	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	170					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.G170R(6)		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)			AGATGAAGACGGAAATATCTT	0.413													A	169108785	G	A	169108785	3	1	17	1	0	0	0	0	1	0	0	0	4687	1117	39	2	534	2	DOCK2	5	169108785	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	20470931	169108785	11806475	32	1102											
HCRTR2	3062	broad.mit.edu	37	6	55120034	55120034	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:55120034G>A	uc003pcl.3	+	2	818	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R103Q	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	168					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R168W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGCAAAGCGGGCCCGTAAC	0.517													A	55120034	G	A	55120034	3	1	17	1	0	0	0	0	1	0	0	0	7002	1116	39	2	513	2	HCRTR2	6	55120034	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		55120034	115995033	33	1103											
COL19A1	1310	broad.mit.edu	37	6	70840111	70840111	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:70840111A>G	uc003pfc.1	+	17	1496	c.1379A>G	c.(1378-1380)gAc>gGc	p.D460G	COL19A1_uc010kam.2_Missense_Mutation_p.D356G	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	460	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGAAAGGAGACAAGGTAATC	0.403													G	70840111	A	G	70840111	3	3	17	1	0	0	0	0	1	0	0	0	3676	275	10	4	1445	4	COL19A1	6	70840111	Missense_Mutation	SNP	A	TCGA-06-0137-01A-01D-1490-08	15720077	70840111	100274956	34	1104											
ZNF292	23036	broad.mit.edu	37	6	87967291	87967291	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:87967291G>C	uc003plm.4	+	7	3985	c.3944G>C	c.(3943-3945)gGt>gCt	p.G1315A		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGGGTAATGGTGAAAATGCA	0.383													C	87967291	G	C	87967291	3	2	17	1	0	0	0	0	1	0	0	0	17823	1261	44	5	3974	5	ZNF292	6	87967291	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	17127180	87967291	83147776	35	1105											
IQCE	23288	broad.mit.edu	37	7	2611946	2611946	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:2611946G>A	uc003sml.1	+	4	564	c.380G>A	c.(379-381)cGc>cAc	p.R127H	IQCE_uc010ksm.1_Missense_Mutation_p.R127H|IQCE_uc011jvy.1_Missense_Mutation_p.R111H|IQCE_uc011jvz.1_Missense_Mutation_p.R62H|IQCE_uc003smo.4_Missense_Mutation_p.R127H|IQCE_uc003smk.4_Missense_Mutation_p.R111H|IQCE_uc003smn.4_Missense_Mutation_p.R62H	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	127										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CATCTCAGGCGCTCTGCCAGC	0.617													A	2611946	G	A	2611946	3	1	17	1	0	0	0	0	1	0	0	0	7806	1087	38	1	398	1	IQCE	7	2611946	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		2611946	156526717	36	1106											
OGDH	4967	broad.mit.edu	37	7	44736643	44736643	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:44736643C>T	uc003tln.3	+	14	2190	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	OGDH_uc011kbx.2_Silent_p.D673D|OGDH_uc011kby.2_Silent_p.D527D|OGDH_uc003tlp.3_Silent_p.D688D|OGDH_uc011kbz.2_Silent_p.D472D|OGDH_uc003tlo.1_Silent_p.D510D	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	677					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCGGCCAGGACGTGGAGCGGG	0.552													T	44736643	C	T	44736643	2	4	17	1	0	0	0	0	0	0	0	1	10839	535	19	1		1	OGDH	7	44736643	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	42124697	44736643	114402020	37	1107											
EGFR	1956	broad.mit.edu	37	7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:55233037C>T	uc003tqk.3	+	14	2033	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(7)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233037	C	T	55233037	3	4	17	1	0	0	0	0	1	0	0	0	4967	652	23	2	1856	2	EGFR	7	55233037	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	10496394	55233037	103905626	38	1108											
ZNF716	441234	broad.mit.edu	37	7	57529294	57529294	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:57529294G>T	uc011kdi.1	+	3	1239	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATTCATACTGGAGAGAAACCC	0.413													T	57529294	G	T	57529294	3	4	17	1	0	0	0	0	1	0	0	0	18116	1174	41	5	1141	5	ZNF716	7	57529294	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	2296257	57529294	101609369	39	1109											
GTF2IRD2	84163	broad.mit.edu	37	7	74234528	74234528	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:74234528C>T	uc003ubd.1	-	6	781	c.597G>A	c.(595-597)gcG>gcA	p.A199A	GTF2IRD2_uc011kfi.2_Silent_p.A199A|GTF2IRD2_uc003ube.1_5'Flank|GTF2IRD2_uc003ubf.1_Silent_p.A199A	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						TGGATCTCTCCGCATCTGTTA	0.443													T	74234528	C	T	74234528	2	4	17	1	0	0	0	0	0	0	0	1	6869	639	23	2		2	GTF2IRD2	7	74234528	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	16705234	74234528	84904135	40	1110											
PCLO	27445	broad.mit.edu	37	7	82763627	82763627	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:82763627delG	uc003uhx.2	-	2	3528	c.3239delC	c.(3238-3240)actfs	p.T1080fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.T1080fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1026					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						CTTGCATTCAGTGCAAGTATT	0.353													-	82763627	G	-	82763627	7	5	17	1	0	1	0	1	0	0	0	0	11583	1029	36	0	12298	0	PCLO	7	82763627	Frame_Shift_Del	DEL	G	TCGA-06-0137-01A-01D-1490-08	8529099	82763627	76375036	41	1111											
PTN	5764	broad.mit.edu	37	7	136938378	136938378	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:136938378T>A	uc003vtq.2	-	2	485	c.122A>T	c.(121-123)aAa>aTa	p.K41I		NM_002825	NP_002816	P21246	PTN_HUMAN	Homo sapiens pleiotrophin (PTN), mRNA.	41					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.K40I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTTCTTCACTTTTTTTTCTGA	0.473													A	136938378	T	A	136938378	3	1	17	1	0	0	0	0	1	0	0	0	12768	1841	64	5	396	5	PTN	7	136938378	Missense_Mutation	SNP	T	TCGA-06-0137-01A-01D-1490-08	54174751	136938378	22200285	42	1112											
ATP6V0A4	50617	broad.mit.edu	37	7	138440463	138440463	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:138440463C>T	uc003vuf.3	-	8	1025	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	ATP6V0A4_uc003vug.3_Missense_Mutation_p.V263I|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.V263I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	263					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCACATTGACGCTCTCCAAC	0.522													T	138440463	C	T	138440463	3	4	17	1	0	0	0	0	1	0	0	0	1170	536	19	1	1787	1	ATP6V0A4	7	138440463	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	1502085	138440463	20698200	43	1113											
DLGAP2	9228	broad.mit.edu	37	8	1497705	1497705	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:1497705C>T	uc003wpl.3	+	1	943	c.846C>T	c.(844-846)gaC>gaT	p.D282D	DLGAP2_uc003wpm.3_Silent_p.D282D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	361					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGACGCCCGACGCCAAGTACC	0.647													T	1497705	C	T	1497705	2	4	17	1	0	0	0	0	0	0	0	1	4560	535	19	1		1	DLGAP2	8	1497705	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		1497705	144866317	44	1114											
KCNV1	27012	broad.mit.edu	37	8	110984522	110984522	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:110984522G>T	uc003ynr.4	-	1	1760	c.956C>A	c.(955-957)gCt>gAt	p.A319D	KCNV1_uc010mcw.3_Missense_Mutation_p.A319D	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	319						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CATGCGCAGAGCCCTGAGCAG	0.502													T	110984522	G	T	110984522	3	4	17	1	0	0	0	0	1	0	0	0	8094	971	34	5	554	5	KCNV1	8	110984522	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	109486817	110984522	35379500	45	1115											
CSMD3	114788	broad.mit.edu	37	8	113988211	113988211	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:113988211C>T	uc003ynu.3	-	6	1356	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	CSMD3_uc003ynt.3_Silent_p.T359T|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	399						integral to membrane|plasma membrane				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						TTCTGAGACTCGTAACTTGCA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113988211	C	T	113988211	2	4	17	1	0	0	0	0	0	0	0	1	3946	871	31	2		2	CSMD3	8	113988211	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	3003689	113988211	32375811	46	1116											
GABBR2	9568	broad.mit.edu	37	9	101235479	101235479	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:101235479G>A	uc004ays.3	-	5	1408	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	316					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGAAATCCACGCCAATGTAGC	0.572													A	101235479	G	A	101235479	2	1	17	1	0	0	0	0	0	0	0	1	6156	1074	38	1		1	GABBR2	9	101235479	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08		101235479	39977952	47	1117											
TSC1	7248	broad.mit.edu	37	9	135804224	135804224	+	Silent	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:135804224G>T	uc004cca.2	-	2	270	c.36C>A	c.(34-36)gcC>gcA	p.A12A	TSC1_uc004ccb.3_Silent_p.A12A|TSC1_uc011mcq.1_Silent_p.A12A|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Silent_p.A12A|TSC1_uc004cce.1_Silent_p.A12A	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	12					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.A12A(2)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGTCCAGCATGGCAAGAAGCT	0.502			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				T	135804224	G	T	135804224	2	4	17	1	0	0	0	0	0	0	0	1	16602	1335	47	5		5	TSC1	9	135804224	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	34568745	135804224	5409207	48	1118											
LCN1	3933	broad.mit.edu	37	9	138415812	138415812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:138415812C>T	uc022bpk.1	+	3	439	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S	LCN1_uc022bpj.1_Missense_Mutation_p.P127S|LCN1_uc004cfz.2_Missense_Mutation_p.P127S|LCN1_uc004cga.2_Missense_Mutation_p.P127S	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	127					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GCACGGGAAGCCGGTCCGAGG	0.632													T	138415812	C	T	138415812	3	4	17	1	0	0	0	0	1	0	0	0	8680	739	26	3	393	3	LCN1	9	138415812	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	2611588	138415812	2797619	49	1119											
OR52K1	390036	broad.mit.edu	37	11	4511035	4511035	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:4511035G>A	uc001lza.2	+	0	927	c.905G>A	c.(904-906)cGt>cAt	p.R302H		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGCAGATTCGTGAGTATGTG	0.433													A	4511035	G	A	4511035	3	1	17	1	0	0	0	0	1	0	0	0	11123	1145	40	1	907	1	OR52K1	11	4511035	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		4511035	130495481	50	1120											
OR51F1	256892	broad.mit.edu	37	11	4790947	4790947	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:4790947C>A	uc010qyl.2	-	0	201	c.201G>T	c.(199-201)agG>agT	p.R67S		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	67						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGCTGATAGCCTGAAGAGGA	0.443													A	4790947	C	A	4790947	3	1	17	1	0	0	0	0	1	0	0	0	11096	738	26	5	740	5	OR51F1	11	4790947	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	279912	4790947	130215569	51	1121											
RBMXL2	27288	broad.mit.edu	37	11	7111041	7111041	+	Silent	SNP	T	T	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:7111041T>G	uc001mfc.2	+	0	877	c.690T>G	c.(688-690)ggT>ggG	p.G230G		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	230	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.R229Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACCCCGGGGTTTTGCCCCCT	0.692													G	7111041	T	G	7111041	2	3	17	1	0	0	0	0	0	0	0	1	13154	1712	60	5		5	RBMXL2	11	7111041	Silent	SNP	T	TCGA-06-0137-01A-01D-1490-08	2320094	7111041	127895475	52	1122											
PLEKHA7	144100	broad.mit.edu	37	11	16838834	16838834	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:16838834G>A	uc010rcu.1	-	10	1394	c.1379C>T	c.(1378-1380)cCt>cTt	p.P460L	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P460L|PLEKHA7_uc010rcv.2_Missense_Mutation_p.P34L|PLEKHA7_uc001mmn.3_Missense_Mutation_p.P168L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	460					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.G459S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGATTGGCCAGGACCCTGGCG	0.602													A	16838834	G	A	16838834	3	1	17	1	0	0	0	0	1	0	0	0	12061	1000	35	3	2038	3	PLEKHA7	11	16838834	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	9727793	16838834	118167682	53	1123											
CD44	960	broad.mit.edu	37	11	35227763	35227763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:35227763C>T	uc001mvu.3	+	10	1821	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Nonsense_Mutation_p.R420*|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Nonsense_Mutation_p.R27*|CD44_uc010ret.2_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	463	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CCCCATGGGACGAGGTCATCA	0.443													T	35227763	C	T	35227763	4	4	17	1	0	0	0	0	0	1	0	0	3017	528	19	1	1429	1	CD44	11	35227763	Nonsense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	18388929	35227763	99778753	54	1124											
OR4C16	219428	broad.mit.edu	37	11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:55339695G>A	uc010rih.2	+	0	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R31H(4)|p.R31L(2)		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)				ATTTTTTTGCGTCTCTACTTG	0.368													A	55339695	G	A	55339695	3	1	17	1	0	0	0	0	1	0	0	0	11049	1145	40	1	94	1	OR4C16	11	55339695	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	20111932	55339695	79666821	55	1125											
FOLR1	2348	broad.mit.edu	37	11	71906672	71906672	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:71906672G>A	uc001orz.2	+	4	650	c.374G>A	c.(373-375)cGc>cAc	p.R125H	FOLR1_uc001osa.2_Missense_Mutation_p.R125H|FOLR1_uc001osb.2_Missense_Mutation_p.R125H|FOLR1_uc001osd.2_Missense_Mutation_p.R125H	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	125					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	p.R125C(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CAGAGCTGGCGCAAAGAGCGG	0.537													A	71906672	G	A	71906672	3	1	17	1	0	0	0	0	1	0	0	0	5981	1087	38	1	384	1	FOLR1	11	71906672	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	16566977	71906672	63099844	56	1126											
PIK3C2G	5288	broad.mit.edu	37	12	18576934	18576934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:18576934G>A	uc001rdt.3	+	16	2458	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R822H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R600H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	781					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R781H(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTACTCCACCGCTCCTTGCAG	0.428													A	18576934	G	A	18576934	3	1	17	1	0	0	0	0	1	0	0	0	11911	1087	38	1	2404	1	PIK3C2G	12	18576934	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		18576934	115274961	57	1127											
ABCD2	225	broad.mit.edu	37	12	40012537	40012538	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:40012537_40012538insA	uc001rmb.2	-	0	1306_1307	c.880_881insT	c.(880-882)tatfs	p.Y294fs		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	294	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CGAGTGCACATACCGCAAATAG	0.406													A	40012538	-	A	40012537	7	5	17	1	0	1	1	0	0	0	0	0	61	1406	49	0	1381	0	ABCD2	12	40012537	Frame_Shift_Ins	INS	-	TCGA-06-0137-01A-01D-1490-08	21435603	40012537	93839358	58	1128											
AMDHD1	144193	broad.mit.edu	37	12	96354263	96354263	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:96354263C>T	uc001tel.2	+	4	781	c.675C>T	c.(673-675)caC>caT	p.H225H	AMDHD1_uc009zth.2_Silent_p.H116H	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	225					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GGGAAATACACGTGGACAATA	0.413													T	96354263	C	T	96354263	2	4	17	1	0	0	0	0	0	0	0	1	567	535	19	1		1	AMDHD1	12	96354263	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	56341726	96354263	37497632	59	1129											
DAO	1610	broad.mit.edu	37	12	109293195	109293195	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:109293195C>T	uc001tnr.4	+	9	1527	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	DAO_uc001tnq.4_Missense_Mutation_p.R220C|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	286					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	p.R286H(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CCGGCCAGTACGCCCCCAGAT	0.468													T	109293195	C	T	109293195	3	4	17	1	0	0	0	0	1	0	0	0	4231	536	19	1	890	1	DAO	12	109293195	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	12938932	109293195	24558700	60	1130											
NOS1	4842	broad.mit.edu	37	12	117768667	117768667	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:117768667G>A	uc001twn.2	-	1	919	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	NOS1_uc001twm.2_Missense_Mutation_p.R70W	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	70	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R70Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACCAAGGGCCGGCCGTTGACC	0.612													A	117768667	G	A	117768667	3	1	17	1	0	0	0	0	1	0	0	0	10541	1115	39	2	4208	2	NOS1	12	117768667	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	8475472	117768667	16083228	61	1131											
OR4N5	390437	broad.mit.edu	37	14	20612259	20612259	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:20612259G>A	uc010tla.2	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GCCTTTGACCGCTACATCGCC	0.478													A	20612259	G	A	20612259	3	1	17	1	0	0	0	0	1	0	0	0	11079	1087	38	1	367	1	OR4N5	14	20612259	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		20612259	86737281	62	1132											
MYH6	4624	broad.mit.edu	37	14	23855760	23855760	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:23855760C>T	uc001wjv.3	-	32	4794	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1575					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTTCCGCTCGATCTCTGCC	0.647													T	23855760	C	T	23855760	3	4	17	1	0	0	0	0	1	0	0	0	10038	893	31	2	1124	2	MYH6	14	23855760	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	3243501	23855760	83493780	63	1133											
ATL1	51062	broad.mit.edu	37	14	51080061	51080061	+	Missense_Mutation	SNP	C	C	T	rs119476046		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:51080061C>T	uc021rsw.1	+	6	956	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	ATL1_uc001wyd.4_Missense_Mutation_p.R239C|ATL1_uc001wyf.4_Missense_Mutation_p.R239C|ATL1_uc001wye.4_Missense_Mutation_p.R239C|ATL1_uc021rsx.1_Missense_Mutation_p.R239C	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	239			R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology).		axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CTTGGAAAAACGCCTCAAGGT	0.353													T	51080061	C	T	51080061	3	4	17	1	0	0	0	0	1	0	0	0	1106	536	19	1	741	1	ATL1	14	51080061	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	27224301	51080061	56269479	64	1134											
CLMN	79789	broad.mit.edu	37	14	95677055	95677055	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:95677055G>A	uc001yef.2	-	6	886	c.770C>T	c.(769-771)gCc>gTc	p.A257V		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	257	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GATGTGCAGGGCATCCTGTGC	0.483													A	95677055	G	A	95677055	3	1	17	1	0	0	0	0	1	0	0	0	3542	1203	42	3	2266	3	CLMN	14	95677055	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	44596994	95677055	11672485	65	1135											
RYR3	6263	broad.mit.edu	37	15	33895522	33895522	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr15:33895522C>T	uc001zhi.3	+	17	2191	c.2121C>T	c.(2119-2121)gaC>gaT	p.D707D	RYR3_uc010bar.3_Silent_p.D707D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	707	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D707D(2)		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)		GTGTTGGTGACGACCTGTACT	0.537													T	33895522	C	T	33895522	2	4	17	1	0	0	0	0	0	0	0	1	13770	535	19	1		1	RYR3	15	33895522	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		33895522	68635870	66	1136											
PLCB2	5330	broad.mit.edu	37	15	40583828	40583828	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr15:40583828C>T	uc001zld.3	-	24	2927	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.E872K|PLCB2_uc010ucm.2_Intron	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	876					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCATAGCCTCTTCCCTGGCC	0.706													T	40583828	C	T	40583828	3	4	17	1	0	0	0	0	1	0	0	0	12028	922	32	3	963	3	PLCB2	15	40583828	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	6688306	40583828	61947564	67	1137											
ACSM3	6296	broad.mit.edu	37	16	20787173	20787173	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:20787173C>A	uc010vba.2	+	1	283	c.208C>A	c.(208-210)Cct>Act	p.P70T	ACSM3_uc002dhq.3_Missense_Mutation_p.P78T|ACSM3_uc002dhr.3_Missense_Mutation_p.P78T	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	78					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGAAAGAAACCTTCAAATCC	0.403													A	20787173	C	A	20787173	3	1	17	1	0	0	0	0	1	0	0	0	185	507	18	5	238	5	ACSM3	16	20787173	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08		20787173	69567580	68	1138											
ITGAM	3684	broad.mit.edu	37	16	31338227	31338227	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:31338227C>A	uc002ebr.3	+	21	2780	c.2682C>A	c.(2680-2682)aaC>aaA	p.N894K	ITGAM_uc002ebq.3_Missense_Mutation_p.N893K|ITGAM_uc010can.3_Missense_Mutation_p.N299K|ITGAM_uc002ebs.1_Missense_Mutation_p.N299K	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	893					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCCTTGGAAACAAACTGCTCC	0.512													A	31338227	C	A	31338227	3	1	17	1	0	0	0	0	1	0	0	0	7887	477	17	5	2768	5	ITGAM	16	31338227	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	10551054	31338227	59016526	69	1139											
RRAD	6236	broad.mit.edu	37	16	66957764	66957764	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:66957764G>A	uc002eqn.2	-	2	581	c.429C>T	c.(427-429)taC>taT	p.Y143Y	RRAD_uc002eqo.2_Silent_p.Y143Y	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	143					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CCCAAATGTCGTAGACCATGA	0.582													A	66957764	G	A	66957764	2	1	17	1	0	0	0	0	0	0	0	1	13671	1140	40	1		1	RRAD	16	66957764	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	35619537	66957764	23396989	70	1140											
CHST5	23563	broad.mit.edu	37	16	75564091	75564091	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:75564091G>A	uc002fej.1	-	4	531	c.210C>T	c.(208-210)caC>caT	p.H70H	CHST5_uc002fei.3_Silent_p.H64H|CHST5_uc021tlk.1_Silent_p.H64H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	64					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCACCAGCACGTGCACACGAT	0.657													A	75564091	G	A	75564091	2	1	17	1	0	0	0	0	0	0	0	1	3407	1136	40	1		1	CHST5	16	75564091	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	8606327	75564091	14790662	71	1141											
KIF2B	84643	broad.mit.edu	37	17	51900728	51900728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr17:51900728G>A	uc002iua.2	+	0	490	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	112			A -> V (in dbSNP:rs3803824).		blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGCGTACCGCCACGAAATG	0.602													A	51900728	G	A	51900728	3	1	17	1	0	0	0	0	1	0	0	0	8298	1087	38	1	336	1	KIF2B	17	51900728	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		51900728	29294482	72	1142											
UTS2R	2837	broad.mit.edu	37	17	80332605	80332605	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr17:80332605C>T	uc010wvl.2	+	0	405	c.405C>T	c.(403-405)caC>caT	p.H135H		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	135						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGACCATGCACGCCAGCATCT	0.662													T	80332605	C	T	80332605	2	4	17	1	0	0	0	0	0	0	0	1	17103	535	19	1		1	UTS2R	17	80332605	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	28431877	80332605	862605	73	1143											
POTEC	388468	broad.mit.edu	37	18	14537857	14537857	+	Silent	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:14537857A>G	uc010dln.3	-	2	1207	c.753T>C	c.(751-753)gaT>gaC	p.D251D	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	251										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATTAATTTATCTTCATTGT	0.343													G	14537857	A	G	14537857	2	3	17	1	0	0	0	0	0	0	0	1	12262	446	16	4		4	POTEC	18	14537857	Silent	SNP	A	TCGA-06-0137-01A-01D-1490-08		14537857	63539391	74	1144											
CDH20	28316	broad.mit.edu	37	18	59158011	59158011	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:59158011C>T	uc010dps.1	+	0	377	c.225C>T	c.(223-225)acC>acT	p.T75T	CDH20_uc002lif.2_Silent_p.T69T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	75	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACACTGGGACCGACCCTTTGT	0.448													T	59158011	C	T	59158011	2	4	17	1	0	0	0	0	0	0	0	1	3106	639	23	2		2	CDH20	18	59158011	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	44620154	59158011	18919237	75	1145											
FBXO15	201456	broad.mit.edu	37	18	71790685	71790685	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:71790685G>A	uc002llf.2	-	7	1136	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	FBXO15_uc002lle.2_Silent_p.H276H	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	276								p.V352I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTTGGTAGCCGTGCAGTCCAT	0.443													A	71790685	G	A	71790685	2	1	17	1	0	0	0	0	0	0	0	1	5728	1136	40	1		1	FBXO15	18	71790685	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	12632674	71790685	6286563	76	1146											
RFX2	5990	broad.mit.edu	37	19	5997146	5997146	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:5997146G>A	uc002meb.3	-	15	2207	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	RFX2_uc002mec.3_Silent_p.D621D	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACATGTACTCGTCGTAGAGCA	0.662													A	5997146	G	A	5997146	2	1	17	1	0	0	0	0	0	0	0	1	13263	1136	40	1		1	RFX2	19	5997146	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08		5997146	53131837	77	1147											
PRKCSH	5589	broad.mit.edu	37	19	11559740	11559740	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:11559740G>A	uc010xlz.2	+	14	1634	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H	PRKCSH_uc002mrt.3_Missense_Mutation_p.R426H|PRKCSH_uc002mru.3_Missense_Mutation_p.R423H|PRKCSH_uc010dyb.3_Missense_Mutation_p.R423H	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	426	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TACGTCTACCGCCTCTGCCCC	0.647													A	11559740	G	A	11559740	3	1	17	1	0	0	0	0	1	0	0	0	12516	1087	38	1	1352	1	PRKCSH	19	11559740	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	5562594	11559740	47569243	78	1148											
ZNF491	126069	broad.mit.edu	37	19	11917007	11917007	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:11917007G>A	uc002mso.1	+	2	524	c.239G>A	c.(238-240)cGt>cAt	p.R80H	ZNF491_uc021upj.1_Missense_Mutation_p.R80H	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CATAAACAACGTAGGAAAGCC	0.378													A	11917007	G	A	11917007	3	1	17	1	0	0	0	0	1	0	0	0	17939	1145	40	1	241	1	ZNF491	19	11917007	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	357267	11917007	47211976	79	1149											
HSH2D	84941	broad.mit.edu	37	19	16259656	16259656	+	Silent	SNP	C	C	T	rs77723805		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:16259656C>T	uc002ndp.4	+	3	627	c.96C>T	c.(94-96)ccC>ccT	p.P32P	HSH2D_uc002ndr.3_5'UTR|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	32						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						ACGGGGTCCCCGAGTGGTTCC	0.637													T	16259656	C	T	16259656	2	4	17	1	0	0	0	0	0	0	0	1	7400	639	23	2		2	HSH2D	19	16259656	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	4342649	16259656	42869327	80	1150											
LYPD4	147719	broad.mit.edu	37	19	42341249	42341249	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:42341249C>T	uc002orp.1	-	4	1693	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	LYPD4_uc002orq.1_Missense_Mutation_p.V202I	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	237						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AGGCCTAAGACGACACCCCAA	0.483													T	42341249	C	T	42341249	3	4	17	1	0	0	0	0	1	0	0	0	9112	536	19	1	35	1	LYPD4	19	42341249	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	26081593	42341249	16787734	81	1151											
PSG7	5676	broad.mit.edu	37	19	43430081	43430081	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:43430081G>C	uc002ovl.4	-	5	1186	c.1084C>G	c.(1084-1086)Cag>Gag	p.Q362E	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.Q241E	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	363	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				CAAGAATACTGTGCCGGTGGG	0.458													C	43430081	G	C	43430081	3	2	17	1	0	0	0	0	1	0	0	0	12660	1386	48	5	180	5	PSG7	19	43430081	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	1088832	43430081	15698902	82	1152											
LILRB1	10859	broad.mit.edu	37	19	55143564	55143564	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:55143564C>T	uc002qgj.3	+	5	877	c.537C>T	c.(535-537)cgC>cgT	p.R179R	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.R179R|LILRB1_uc002qgk.3_Silent_p.R179R|LILRB1_uc002qgm.3_Silent_p.R179R|LILRB1_uc010erq.3_Silent_p.R179R|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	179	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		GGTCGTCCCGCGCCATCTTCT	0.577										HNSCC(37;0.09)			T	55143564	C	T	55143564	2	4	17	1	0	0	0	0	0	0	0	1	8790	755	27	1		1	LILRB1	19	55143564	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	11713483	55143564	3985419	83	1153											
C20orf152	140894	broad.mit.edu	37	20	34571988	34571988	+	Silent	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:34571988C>A	uc002xer.1	+	4	648	c.492C>A	c.(490-492)acC>acA	p.T164T	C20orf152_uc002xes.1_Silent_p.T164T|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	164										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					TTGCAATAACCAAGGACGAGG	0.532													A	34571988	C	A	34571988	2	1	17	1	0	0	0	0	0	0	0	1	2092	581	21	5		5	C20orf152	20	34571988	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		34571988	28453532	84	1154											
KCNG1	3755	broad.mit.edu	37	20	49620775	49620775	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:49620775C>T	uc002xwa.4	-	2	1638	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	448						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G448D(2)		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						GAGCAGGATGCCGCTCAGGAT	0.622													T	49620775	C	T	49620775	3	4	17	1	0	0	0	0	1	0	0	0	8027	739	26	3	202	3	KCNG1	20	49620775	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	15048787	49620775	13404745	85	1155											
LAMA5	3911	broad.mit.edu	37	20	60887326	60887326	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:60887326G>A	uc002ycq.3	-	68	9474	c.9407C>T	c.(9406-9408)gCg>gTg	p.A3136V	LAMA5_uc021wfw.1_Missense_Mutation_p.A3136V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3136	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCGAGAGCGCCAGGCGAAG	0.682													A	60887326	G	A	60887326	3	1	17	1	0	0	0	0	1	0	0	0	8609	1087	38	1	1728	1	LAMA5	20	60887326	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	11266551	60887326	2138194	86	1156											
LRRC3	81543	broad.mit.edu	37	21	45877207	45877207	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr21:45877207G>A	uc021wjs.1	+	0	680	c.680G>A	c.(679-681)cGc>cAc	p.R227H	LRRC3_uc002zfa.3_Missense_Mutation_p.R227H	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	227						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TACTATGTGCGCCACAACCAG	0.662													A	45877207	G	A	45877207	3	1	17	1	0	0	0	0	1	0	0	0	8984	1087	38	1	682	1	LRRC3	21	45877207	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		45877207	2252688	87	1157											
KRTAP10-10	353333	broad.mit.edu	37	21	46057875	46057875	+	Missense_Mutation	SNP	G	G	A	rs147625145	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr21:46057875G>A	uc002zfq.3	+	0	603	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	181	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGCTGCACCGCCTCCTGCTG	0.642													A	46057875	G	A	46057875	3	1	17	1	0	0	0	0	1	0	0	0	8506	1087	38	1	543	1	KRTAP10-10	21	46057875	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	180668	46057875	2072020	88	1158											
SGSM1	129049	broad.mit.edu	37	22	25263061	25263061	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:25263061G>A	uc003abg.2	+	10	1084	c.927_splice	c.e10-1	p.S309_splice	SGSM1_uc010guu.1_Splice_Site_p.S309_splice|SGSM1_uc003abh.2_Splice_Site_p.S309_splice|SGSM1_uc003abj.2_Splice_Site_p.S309_splice|SGSM1_uc003abi.1_Splice_Site_p.S284_splice	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	309	Required for interaction with RAP family members.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCTTCCAGCGTCTACTGGGA	0.617													A	25263061	G	A	25263061	3	1	17	1	0	0	0	0	1	0	0	0	14222	1159	40	1	966	1	SGSM1	22	25263061	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		25263061	26041505	89	1159											
SYN3	8224	broad.mit.edu	37	22	32924868	32924868	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:32924868C>T	uc003amx.3	-	9	1385	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	SYN3_uc003amy.3_Missense_Mutation_p.R408K|SYN3_uc003amz.3_Missense_Mutation_p.R407K|SYN3_uc011amc.1_Missense_Mutation_p.R42K	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	408	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TACCCAAGGTCTGAGGGGGGA	0.572											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	32924868	C	T	32924868	3	4	17	1	0	0	0	0	1	0	0	0	15439	913	32	3	535	3	SYN3	22	32924868	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	7661807	32924868	18379698	90	1160											
CELSR1	9620	broad.mit.edu	37	22	46860064	46860064	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:46860064G>A	uc003bhw.1	-	1	3723	c.3723C>T	c.(3721-3723)gaC>gaT	p.D1241D		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1241					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGACGAAGACGTCGTCCTTGG	0.642													A	46860064	G	A	46860064	2	1	17	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46860064	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	13935196	46860064	4444502	91	1161											
CDKL5	6792	broad.mit.edu	37	X	18664128	18664128	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:18664128C>T	uc004cym.3	+	19	2967	c.2714_splice	c.e19-1	p.D905_splice	CDKL5_uc004cyn.3_Splice_Site_p.D905_splice|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	905					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.D905D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					actaactagacggtggatgtg	0.493													T	18664128	C	T	18664128	2	4	17	1	0	0	0	0	0	0	0	1	3157	550	19	1		1	CDKL5	23	18664128	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		18664128	136606432	92	1162											
KIF4A	24137	broad.mit.edu	37	X	69510643	69510643	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:69510643G>T	uc004dyg.3	+	2	366	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C	KIF4A_uc010nkw.3_Missense_Mutation_p.G75C|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.2_Missense_Mutation_p.G75C	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	75	Kinesin-motor.				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			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						ACTCATAAAAGGTGTATTTAA	0.408													T	69510643	G	T	69510643	3	4	17	1	0	0	0	0	1	0	0	0	8303	1000	35	5	229	5	KIF4A	23	69510643	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	50846515	69510643	85759917	93	1163											
DIAPH2	1730	broad.mit.edu	37	X	96684727	96684727	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:96684727G>A	uc004efu.4	+	25	3620	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	DIAPH2_uc004eft.4_Missense_Mutation_p.R1075Q	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	1075	Arg/Lys-rich (basic).|DAD.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.R1075W(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGTCGAAAGCGGATTCCAAGG	0.408													A	96684727	G	A	96684727	3	1	17	1	0	0	0	0	1	0	0	0	4519	1116	39	2	3326	2	DIAPH2	23	96684727	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	27174084	96684727	58585833	94	1164											
ALG13	79868	broad.mit.edu	37	X	110925413	110925413	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:110925413G>A	uc011msy.2	+	1	236	c.135G>A	c.(133-135)acG>acA	p.T45T	ALG13_uc022ccl.1_Silent_p.T45T|ALG13_uc022ccm.1_Intron|ALG13_uc022ccn.1_Silent_p.T45T|ALG13_uc004epi.2_Silent_p.T45T|ALG13_uc011msw.2_5'UTR|ALG13_uc011msx.2_Intron|ALG13_uc022ccp.1_Intron|ALG13_uc022cco.1_Non-coding_Transcript|ALG13_uc011msz.2_5'UTR|ALG13_uc011mta.2_Intron|ALG13_uc011mtb.2_5'UTR|ALG13_uc022ccq.1_Non-coding_Transcript	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	45					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GTAGAGGAACGGTGGTACCTG	0.413													A	110925413	G	A	110925413	2	1	17	1	0	0	0	0	0	0	0	1	515	1103	39	2		2	ALG13	23	110925413	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	14240686	110925413	44345147	95	1165											
ODZ1	10178	broad.mit.edu	37	X	123554390	123554390	+	Missense_Mutation	SNP	C	C	T	rs148440423	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:123554390C>T	uc010nqy.3	-	24	4817	c.4753G>A	c.(4753-4755)Gcg>Acg	p.A1585T	ODZ1_uc011muj.2_Missense_Mutation_p.A1584T|ODZ1_uc004euj.3_Missense_Mutation_p.A1578T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1578					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.N1585N(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTGGTAATCGCGCCCAAGTCA	0.498													T	123554390	C	T	123554390	3	4	17	1	0	0	0	0	1	0	0	0	10834	768	27	1	3477	1	ODZ1	23	123554390	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	12628977	123554390	31716170	96	1166											
SPANXN2	494119	broad.mit.edu	37	X	142795381	142795381	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:142795381G>A	uc004fbz.3	-	1	1051	c.297C>T	c.(295-297)gaC>gaT	p.D99D		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	99										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTCTTCGTCCTCCTGTG	0.527													A	142795381	G	A	142795381	2	1	17	1	0	0	0	0	0	0	0	1	14991	1136	40	1		1	SPANXN2	23	142795381	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	19240991	142795381	12475179	97	1167											
MAGEA1	4100	broad.mit.edu	37	X	152482500	152482500	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:152482500G>A	uc022chs.1	-	0	511	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	MAGEA1_uc004fhf.2_Missense_Mutation_p.L171F	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	171	MAGE.					cytoplasm|plasma membrane		p.L171F(2)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTGACAAGGACATAGGAG	0.517													A	152482500	G	A	152482500	3	1	17	1	0	0	0	0	1	0	0	0	9163	1000	35	3	422	3	MAGEA1	23	152482500	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	9687119	152482500	2788060	98	1168											
RPL10	6134	broad.mit.edu	37	X	153631649	153631649	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:153631649G>A	uc004fkr.1	+	2	348	c.313G>A	c.(313-315)Gta>Ata	p.V105I	RPL10_uc004fkq.1_Non-coding_Transcript|DNASE1L1_uc004fks.1_Silent_p.Y162Y|DNASE1L1_uc004fkt.1_Silent_p.Y162Y|DNASE1L1_uc004fku.1_Silent_p.Y162Y|DNASE1L1_uc004fkv.1_Silent_p.Y162Y|DNASE1L1_uc004fkw.1_Silent_p.Y162Y	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAACACATCGTAGAGGGCGT	0.622													A	153631649	G	A	153631649	3	1	17	1	0	0	0	0	1	0	0	0	13554	1140	40	1		1	RPL10	23	153631649	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	1149149	153631649	1638911	99	1169											
WDR65	149465	broad.mit.edu	37	1	43651007	43651007	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr1:43651007C>A	uc021omk.1	+	4	1095	c.949C>A	c.(949-951)Cgt>Agt	p.R317S	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R306S|WDR65_uc001ciq.2_Missense_Mutation_p.R317S|WDR65_uc001cip.2_Missense_Mutation_p.R317S	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	317										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGATTTTTACCGTGAGAGCAG	0.473													A	43651007	C	A	43651007	3	1	18	1	0	0	0	0	1	0	0	0	17313	652	23	5	963	5	WDR65	1	43651007	Missense_Mutation	SNP	C	TCGA-06-0139-01A-01D-1490-08		43651007	205599614	1	1170											
PCDHB3	56132	broad.mit.edu	37	5	140480851	140480851	+	Silent	SNP	G	G	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr5:140480851G>A	uc003lio.3	+	0	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	206	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q205Q(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)			AGGAGCAGCCGGAACTCAGCT	0.567													A	140480851	G	A	140480851	2	1	18	1	0	0	0	0	0	0	0	1	11543	1103	39	2		2	PCDHB3	5	140480851	Silent	SNP	G	TCGA-06-0139-01A-01D-1490-08		140480851	40434409	2	1171											
DIAPH1	1729	broad.mit.edu	37	5	140960406	140960406	+	Silent	SNP	C	C	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr5:140960406C>A	uc003llb.4	-	7	870	c.729G>T	c.(727-729)ctG>ctT	p.L243L	DIAPH1_uc003llc.4_Silent_p.L234L|DIAPH1_uc021yep.1_Silent_p.L243L|DIAPH1_uc021yeq.1_Silent_p.L234L	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	243	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGACCAGCAGTAGGATTC	0.473													A	140960406	C	A	140960406	2	1	18	1	0	0	0	0	0	0	0	1	4518	697	25	5		5	DIAPH1	5	140960406	Silent	SNP	C	TCGA-06-0139-01A-01D-1490-08	479555	140960406	39954854	3	1172											
PRSS55	203074	broad.mit.edu	37	8	10387101	10387101	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr8:10387101C>T	uc003wta.3	+	1	279	c.239C>T	c.(238-240)cCg>cTg	p.P80L	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.P80L|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	80	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGTGAGTTTCCGTGGCAGGTG	0.512													T	10387101	C	T	10387101	3	4	18	1	0	0	0	0	1	0	0	0	12634	652	23	2	245	2	PRSS55	8	10387101	Missense_Mutation	SNP	C	TCGA-06-0139-01A-01D-1490-08		10387101	135976921	4	1173											
CYP7A1	1581	broad.mit.edu	37	8	59409488	59409488	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr8:59409488G>A	uc003xtm.4	-	2	646	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	195					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.R195L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGTGTGTCCCGCCTTGTAAGA	0.453									Neonatal Giant Cell Hepatitis				A	59409488	G	A	59409488	3	1	18	1	0	0	0	0	1	0	0	0	4196	1086	38	1	947	1	CYP7A1	8	59409488	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08	49022387	59409488	86954534	5	1174											
PSAT1	29968	broad.mit.edu	37	9	80921319	80921319	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr9:80921319G>A	uc004ala.3	+	4	555	c.487G>A	c.(487-489)Gac>Aac	p.D163N	PSAT1_uc004alb.3_Missense_Mutation_p.D163N	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	163					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TGTGGAGTTTGACTTTATACC	0.463													A	80921319	G	A	80921319	3	1	18	1	0	0	0	0	1	0	0	0	12644	1290	45	3	505	3	PSAT1	9	80921319	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08		80921319	60292112	6	1175			1	5		2	2	25	G		7.752717e-06
PSAT1	29968	broad.mit.edu	37	9	80921343	80921343	+	Missense_Mutation	SNP	G	G	A	rs115263053	by1000genomes	TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr9:80921343G>A	uc004ala.3	+	4	579	c.511G>A	c.(511-513)Gca>Aca	p.A171T	PSAT1_uc004alb.3_Missense_Mutation_p.A171T	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	171					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.G170*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TGTCAAGGGAGCAGTACTGGT	0.498													A	80921343	G	A	80921343	3	1	18	1	0	0	0	0	1	0	0	0	12644	971	34	3	529	3	PSAT1	9	80921343	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08	24	80921343	60292088	7	1176			1	5		2	2	25	G		7.752717e-06
OR4F6	390648	broad.mit.edu	37	15	102346736	102346736	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr15:102346736G>A	uc010utr.2	+	0	814	c.814G>A	c.(814-816)Gcc>Acc	p.A272T		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TAAATTCCTTGCCATCTTTGA	0.378													A	102346736	G	A	102346736	3	1	18	1	0	0	0	0	1	0	0	0	11066	1319	46	3	816	3	OR4F6	15	102346736	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08		102346736	184656	8	1177											
TANC2	26115	broad.mit.edu	37	17	61391934	61391934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr17:61391934G>A	uc002jal.4	+	7	1146	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	TANC2_uc010wpe.2_Missense_Mutation_p.G285S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	375							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATTGGATTCGGCAAAACTGC	0.507													A	61391934	G	A	61391934	3	1	18	1	0	0	0	0	1	0	0	0	15542	1116	39	2	1153	2	TANC2	17	61391934	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08		61391934	19803276	9	1178											
EXOC7	23265	broad.mit.edu	37	17	74094004	74094004	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr17:74094004C>A	uc002jqs.3	-	4	608	c.513G>T	c.(511-513)ttG>ttT	p.L171F	EXOC7_uc010dgv.2_Missense_Mutation_p.L118F|EXOC7_uc010wsv.2_Missense_Mutation_p.L130F|EXOC7_uc010wsw.2_Missense_Mutation_p.L171F|EXOC7_uc002jqq.3_Missense_Mutation_p.L171F|EXOC7_uc010wsx.2_Missense_Mutation_p.L171F|EXOC7_uc002jqr.3_Missense_Mutation_p.L171F|EXOC7_uc002jqu.2_Missense_Mutation_p.L171F	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	171					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGATCAGATCCAAGATGAGCA	0.602													A	74094004	C	A	74094004	3	1	18	1	0	0	0	0	1	0	0	0	5310	593	21	5	1758	5	EXOC7	17	74094004	Missense_Mutation	SNP	C	TCGA-06-0139-01A-01D-1490-08	12702070	74094004	7101206	10	1179											
ABCA4	24	broad.mit.edu	37	1	94463458	94463458	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:94463458G>A	uc001dqh.3	-	47	6792	c.6688C>T	c.(6688-6690)Ctc>Ttc	p.L2230F		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2230					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTCGATGAGCAGGCTGTCC	0.592													A	94463458	G	A	94463458	3	1	19	1	0	0	0	0	1	0	0	0	34	971	34	3	145	3	ABCA4	1	94463458	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		94463458	154787163	1	1180											
OPTC	26254	broad.mit.edu	37	1	203472741	203472741	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:203472741C>T	uc001gzu.1	+	6	1008	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	298						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CAAACACACCCGCAGGCAGCT	0.587													T	203472741	C	T	203472741	3	4	19	1	0	0	0	0	1	0	0	0	10888	652	23	2	914	2	OPTC	1	203472741	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	109009283	203472741	45777880	2	1181											
PIGR	5284	broad.mit.edu	37	1	207109154	207109154	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:207109154A>T	uc001hez.3	-	4	1239	c.1055T>A	c.(1054-1056)aTt>aAt	p.I352N	PIGR_uc009xbz.3_Missense_Mutation_p.I352N	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	352	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGCGGGGAATCGTGGACTC	0.602											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	207109154	A	T	207109154	3	4	19	1	0	0	0	0	1	0	0	0	11897	101	4	5	1267	5	PIGR	1	207109154	Missense_Mutation	SNP	A	TCGA-06-0140-01A-01D-1490-08	3636413	207109154	42141467	3	1182											
NBAS	51594	broad.mit.edu	37	2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	rs140188229		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:15493765C>T	uc002rcc.1	-	33	4027	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_uc010exl.1_Missense_Mutation_p.R406H|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1334										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						GAGCTCTTGACGAGTGGCCAA	0.453													T	15493765	C	T	15493765	3	4	19	1	0	0	0	0	1	0	0	0	10186	536	19	1	3190	1	NBAS	2	15493765	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		15493765	227705608	4	1183											
CYP26B1	56603	broad.mit.edu	37	2	72360330	72360330	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:72360330C>T	uc002sih.1	-	4	968	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	CYP26B1_uc010yra.1_Missense_Mutation_p.R306Q|CYP26B1_uc010yrb.1_Missense_Mutation_p.R248Q	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	323					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCTCATCCCGCAGCTTCTC	0.657													T	72360330	C	T	72360330	3	4	19	1	0	0	0	0	1	0	0	0	4156	652	23	2	578	2	CYP26B1	2	72360330	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	56866565	72360330	170839043	5	1184											
ST6GAL2	84620	broad.mit.edu	37	2	107460088	107460088	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:107460088C>T	uc002tdq.3	-	1	465	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	ST6GAL2_uc002tdr.3_Missense_Mutation_p.V116M|ST6GAL2_uc002tds.3_Missense_Mutation_p.V116M	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	116					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTTCTCCCCACCTGGGATGAA	0.547													T	107460088	C	T	107460088	3	4	19	1	0	0	0	0	1	0	0	0	15221	507	18	3	1350	3	ST6GAL2	2	107460088	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	35099758	107460088	135739285	6	1185											
ACTR3	10096	broad.mit.edu	37	2	114691915	114691915	+	Silent	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:114691915C>T	uc002tkx.1	+	5	812	c.492C>T	c.(490-492)acC>acT	p.T164T	ACTR3_uc010yyc.1_Silent_p.T102T|ACTR3_uc010yyd.1_Silent_p.T113T	NM_005721	NP_005712	P61158	ARP3_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.	164					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GGACGTTGACCGGTACGGTAA	0.418													T	114691915	C	T	114691915	2	4	19	1	0	0	0	0	0	0	0	1	212	639	23	2		2	ACTR3	2	114691915	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	7231827	114691915	128507458	7	1186											
PRPF40A	55660	broad.mit.edu	37	2	153515685	153515685	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:153515685C>T	uc002tyh.4	-	22	2450	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N	PRPF40A_uc002tyg.4_Missense_Mutation_p.D266N|PRPF40A_uc010zcd.1_Missense_Mutation_p.D761N	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	837					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGGCTATCATCATCATCTGAA	0.343													T	153515685	C	T	153515685	3	4	19	1	0	0	0	0	1	0	0	0	12571	826	29	3	380	3	PRPF40A	2	153515685	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	38823770	153515685	89683688	8	1187											
STK11IP	114790	broad.mit.edu	37	2	220476376	220476376	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:220476376G>A	uc002vml.3	+	17	2231	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	730					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTTCTCCTCGCTGTGTCTCG	0.627													A	220476376	G	A	220476376	3	1	19	1	0	0	0	0	1	0	0	0	15287	1087	38	1	2258	1	STK11IP	2	220476376	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	66960691	220476376	22722997	9	1188											
SCG2	7857	broad.mit.edu	37	2	224462380	224462380	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:224462380C>T	uc021vxk.1	-	0	1621	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	SCG2_uc002vnm.3_Missense_Mutation_p.E541K	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	541					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCAATTTGTTCCTCTTCCTGC	0.507													T	224462380	C	T	224462380	3	4	19	1	0	0	0	0	1	0	0	0	13891	864	30	3	236	3	SCG2	2	224462380	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	3986004	224462380	18736993	10	1189											
MLPH	79083	broad.mit.edu	37	2	238449110	238449110	+	Silent	SNP	C	C	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:238449110C>A	uc002vwt.3	+	9	1451	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	MLPH_uc002vws.3_Silent_p.A265A|MLPH_uc010fyt.1_Silent_p.A380A|MLPH_uc002vwu.3_Silent_p.A380A|MLPH_uc002vwv.3_Silent_p.A340A|MLPH_uc002vww.3_Silent_p.A356A|MLPH_uc002vwx.3_Silent_p.A264A	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	408							metal ion binding	p.E407E(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGGAGGAAGCCAAGGACGAAA	0.627													A	238449110	C	A	238449110	2	1	19	1	0	0	0	0	0	0	0	1	9633	581	21	5		5	MLPH	2	238449110	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	13986730	238449110	4750263	11	1190											
PLA1A	51365	broad.mit.edu	37	3	119316815	119316815	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr3:119316815C>G	uc003ecu.3	+	0	121	c.55C>G	c.(55-57)Ctc>Gtc	p.L19V	PLA1A_uc003ecv.3_Missense_Mutation_p.L19V|PLA1A_uc011bjc.2_5'UTR|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	19					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATTTTGTGGCTCAGCGTTGG	0.507													G	119316815	C	G	119316815	3	3	19	1	0	0	0	0	1	0	0	0	11988	797	28	5	57	5	PLA1A	3	119316815	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		119316815	78705615	12	1191											
MRPL3	11222	broad.mit.edu	37	3	131190114	131190114	+	Silent	SNP	T	T	C			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr3:131190114T>C	uc011blp.2	-	7	915	c.720A>G	c.(718-720)aaA>aaG	p.K240K	MRPL3_uc011blo.2_Silent_p.K108K|MRPL3_uc003eoh.3_Silent_p.K213K	NM_007208	NP_009139	P09001	RM03_HUMAN	Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.	213					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTGAAAACCTTTACCAATAC	0.408													C	131190114	T	C	131190114	2	2	19	1	0	0	0	0	0	0	0	1	9793	1606	56	4		4	MRPL3	3	131190114	Silent	SNP	T	TCGA-06-0140-01A-01D-1490-08	11873299	131190114	66832316	13	1192											
RASSF6	166824	broad.mit.edu	37	4	74442417	74442417	+	Silent	SNP	C	C	T	rs147932445	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:74442417C>T	uc003hhd.1	-	8	972	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RASSF6_uc003hhc.1_Silent_p.P251P|RASSF6_uc010iik.1_Silent_p.P217P|RASSF6_uc010iil.1_Silent_p.P239P	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	283	Ras-associating.				apoptosis|signal transduction		protein binding	p.P283Q(1)|p.I282I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTGCAGTAGCGGAATGTCTG	0.403													T	74442417	C	T	74442417	2	4	19	1	0	0	0	0	0	0	0	1	13090	755	27	1		1	RASSF6	4	74442417	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08		74442417	116711859	14	1193											
DSPP	1834	broad.mit.edu	37	4	88534401	88534401	+	Missense_Mutation	SNP	G	G	A	rs61738515	by1000genomes	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:88534401G>A	uc003hqu.3	+	3	1183	c.1063G>A	c.(1063-1065)Gta>Ata	p.V355I		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	355					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.R354H(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGCAAACGCGTAGAAAATAG	0.418													A	88534401	G	A	88534401	3	1	19	1	0	0	0	0	1	0	0	0	4782	1145	40	1	1073	1	DSPP	4	88534401	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	14091984	88534401	102619875	15	1194											
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	Translation_Start_Site	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:144826671C>T	uc003ijj.3	-	0					GYPE_uc003ijk.4_5'UTR	NM_198682	NP_941391	P15421	GLPE_HUMAN	Homo sapiens glycophorin E (MNS blood group) (GYPE), transcript variant 2, mRNA.							integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398													T	144826671	C	T	144826671	1	4	19	1	0	0	0	0	0	0	0	0	6911	551	19	1		1	GYPE	4	144826671	Translation_Start_Site	SNP	C	TCGA-06-0140-01A-01D-1490-08	56292270	144826671	46327605	16	1195											
TRIM2	23321	broad.mit.edu	37	4	154215581	154215581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:154215581G>A	uc003inh.2	+	4	815	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	TRIM2_uc003ing.2_Missense_Mutation_p.V217M	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	217						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GACTTTAAATGTGCGCAAGAG	0.418													A	154215581	G	A	154215581	3	1	19	1	0	0	0	0	1	0	0	0	16491	1377	48	3	748	3	TRIM2	4	154215581	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	9388910	154215581	36938695	17	1196											
IL7R	3575	broad.mit.edu	37	5	35876389	35876389	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:35876389G>A	uc003jjs.3	+	7	1270	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	394					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGGGAGAGTGGCAAGAATGGG	0.537			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						A	35876389	G	A	35876389	3	1	19	1	0	0	0	0	1	0	0	0	7705	1203	42	3	1211	3	IL7R	5	35876389	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		35876389	145038871	18	1197											
UTP15	84135	broad.mit.edu	37	5	72864347	72864347	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:72864347G>A	uc003kcw.1	+	3	509	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	UTP15_uc011cso.1_Missense_Mutation_p.V77M|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Missense_Mutation_p.V96M|ANKRA2_uc003kcu.2_5'Flank	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	96					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TAGATTGCTTGTGGCTGGCAG	0.428													A	72864347	G	A	72864347	3	1	19	1	0	0	0	0	1	0	0	0	17094	1377	48	3	296	3	UTP15	5	72864347	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	36987958	72864347	108050913	19	1198											
GRIA1	2890	broad.mit.edu	37	5	153190767	153190767	+	Silent	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:153190767G>A	uc011dcy.2	+	15	2760	c.2733G>A	c.(2731-2733)ttG>ttA	p.L911L	GRIA1_uc003lva.4_Silent_p.L901L|GRIA1_uc003luy.4_Silent_p.L901L|GRIA1_uc003luz.4_Silent_p.L806L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.L821L|GRIA1_uc011dcx.2_Silent_p.L832L|GRIA1_uc011dcz.2_Silent_p.L911L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	901					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGATGCCCTTGGGAGCCACGG	0.592													A	153190767	G	A	153190767	2	1	19	1	0	0	0	0	0	0	0	1	6767	1339	47	3		3	GRIA1	5	153190767	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08	80326420	153190767	27724493	20	1199											
IRF4	3662	broad.mit.edu	37	6	398928	398928	+	Silent	SNP	G	G	A	rs144395675		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr6:398928G>A	uc003msz.4	+	5	864	c.738G>A	c.(736-738)gcG>gcA	p.A246A	IRF4_uc010jne.2_Silent_p.A246A|IRF4_uc003mtb.4_Silent_p.A245A|IRF4_uc021ykl.1_Silent_p.A92A|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Silent_p.A76A	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	246					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGCCTTGGCGTTCTCAGGTG	0.592			T	IGH@	MM								A	398928	G	A	398928	2	1	19	1	0	0	0	0	0	0	0	1	7832	1132	40	1		1	IRF4	6	398928	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08		398928	170716139	21	1200											
ECT2L	345930	broad.mit.edu	37	6	139208055	139208055	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr6:139208055G>A	uc003qif.2	+	18	2646	c.2321G>A	c.(2320-2322)tGc>tAc	p.C774Y	ECT2L_uc021zfx.1_Missense_Mutation_p.C774Y|ECT2L_uc011edq.1_Missense_Mutation_p.C628Y	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	774					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTGGGGATGCCCTGTATGT	0.393			"N, Splice, Mis"		ETP ALL								A	139208055	G	A	139208055	3	1	19	1	0	0	0	0	1	0	0	0	4902	1319	46	3	2387	3	ECT2L	6	139208055	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	138809127	139208055	31907012	22	1201											
MAD1L1	8379	broad.mit.edu	37	7	1855850	1855850	+	Silent	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:1855850C>T	uc003slh.1	-	18	2279	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	MAD1L1_uc003sle.1_Silent_p.S400S|MAD1L1_uc003slf.1_Silent_p.S671S|MAD1L1_uc003slg.1_Silent_p.S671S|MAD1L1_uc010ksh.1_Silent_p.S671S|MAD1L1_uc003sli.1_Silent_p.S579S|MAD1L1_uc003sld.1_Silent_p.S127S	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	671					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTTGGAACCCGAGGGGCTGG	0.642													T	1855850	C	T	1855850	2	4	19	1	0	0	0	0	0	0	0	1	9147	639	23	2		2	MAD1L1	7	1855850	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08		1855850	157282813	23	1202											
ELN	2006	broad.mit.edu	37	7	73457353	73457353	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:73457353G>A	uc003tzw.3	+	6	456	c.365G>A	c.(364-366)gGa>gAa	p.G122E	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Missense_Mutation_p.G122E|ELN_uc003tzy.3_Missense_Mutation_p.G112E|ELN_uc003tzz.3_Missense_Mutation_p.G110E|ELN_uc003tzo.3_Missense_Mutation_p.G122E|ELN_uc003tzp.3_Missense_Mutation_p.G112E|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G122E|ELN_uc003tzt.3_Missense_Mutation_p.G122E|ELN_uc003tzu.3_Missense_Mutation_p.G122E|ELN_uc003tzv.3_Missense_Mutation_p.G112E|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G112E|ELN_uc011kff.2_Missense_Mutation_p.G122E	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	122					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGTGGCTTAGGAGTGTCTGCA	0.627			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						A	73457353	G	A	73457353	3	1	19	1	0	0	0	0	1	0	0	0	5071	1174	41	3	391	3	ELN	7	73457353	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	71601503	73457353	85681310	24	1203											
GTF2IRD1	9569	broad.mit.edu	37	7	73922465	73922465	+	Missense_Mutation	SNP	C	C	T	rs139144176		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:73922465C>T	uc003uaq.3	+	1	448	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.R19C|GTF2IRD1_uc003uap.3_Missense_Mutation_p.R19C|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R19C	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	19						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGACCCGACCGCTGGAACTC	0.642													T	73922465	C	T	73922465	3	4	19	1	0	0	0	0	1	0	0	0	6868	652	23	2	57	2	GTF2IRD1	7	73922465	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	465112	73922465	85216198	25	1204											
NPTX2	4885	broad.mit.edu	37	7	98257925	98257925	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:98257925G>A	uc003upl.2	+	4	1457	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	427	Pentaxin.			R -> A (in Ref. 1; AAA68980/AAA92296).	synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAGGAGCGTCTCCTTGAC	0.582													A	98257925	G	A	98257925	3	1	19	1	0	0	0	0	1	0	0	0	10603	1145	40	1	1298	1	NPTX2	7	98257925	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	24335460	98257925	60880738	26	1205											
AZGP1	563	broad.mit.edu	37	7	99564820	99564820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:99564820delT	uc003ush.3	-	3	795	c.703delA	c.(703-705)attfs	p.I235fs		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	235	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCACATCAATTTTCCCTGGG	0.567													-	99564820	T	-	99564820	7	5	19	1	0	1	0	1	0	0	0	0	1239	1493	52	0	197	0	AZGP1	7	99564820	Frame_Shift_Del	DEL	T	TCGA-06-0140-01A-01D-1490-08	1306895	99564820	59573843	27	1206											
REPIN1	29803	broad.mit.edu	37	7	150068350	150068350	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:150068350G>A	uc010lpr.1	+	2	384	c.191G>A	c.(190-192)aGg>aAg	p.R64K	REPIN1_uc003whd.2_5'UTR|REPIN1_uc010lpq.1_Missense_Mutation_p.R7K|REPIN1_uc003whc.2_Missense_Mutation_p.R7K|REPIN1_uc003whe.2_Missense_Mutation_p.R7K	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	7					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGTCGTTGCAGGGGCCCCCTG	0.647													A	150068350	G	A	150068350	3	1	19	1	0	0	0	0	1	0	0	0	13227	1000	35	3	197	3	REPIN1	7	150068350	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	50503530	150068350	9070313	28	1207											
C9orf96	169436	broad.mit.edu	37	9	136260823	136260823	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr9:136260823G>T	uc004cdk.3	+	8	860	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	267	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GATCCCGGATGTGGAAACCTT	0.552													T	136260823	G	T	136260823	3	4	19	1	0	0	0	0	1	0	0	0	2508	1377	48	5	833	5	C9orf96	9	136260823	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		136260823	4952608	29	1208											
SLC18A2	6571	broad.mit.edu	37	10	119003545	119003545	+	Missense_Mutation	SNP	C	C	T	rs140529367		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr10:119003545C>T	uc001ldd.2	+	2	348	c.185C>T	c.(184-186)aCg>aTg	p.T62M	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	62					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493													T	119003545	C	T	119003545	3	4	19	1	0	0	0	0	1	0	0	0	14426	536	19	1	191	1	SLC18A2	10	119003545	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		119003545	16531202	30	1209											
CLRN3	119467	broad.mit.edu	37	10	129682096	129682096	+	Silent	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr10:129682096C>T	uc001lka.1	-	1	436	c.273G>A	c.(271-273)tcG>tcA	p.S91S	CLRN3_uc001ljz.1_Silent_p.S23S	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	91						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				GGATAGTCACCGAATGCAGAG	0.448													T	129682096	C	T	129682096	2	4	19	1	0	0	0	0	0	0	0	1	3559	639	23	2		2	CLRN3	10	129682096	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	10678551	129682096	5852651	31	1210											
OR51G1	79324	broad.mit.edu	37	11	4945520	4945520	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:4945520G>A	uc010qyr.2	-	0	50	c.50C>T	c.(49-51)aCg>aTg	p.T17M		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGAAGCCCGTCAGGAAGAA	0.458													A	4945520	G	A	4945520	3	1	19	1	0	0	0	0	1	0	0	0	11098	1145	40	1	917	1	OR51G1	11	4945520	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		4945520	130060996	32	1211											
OR51A2	401667	broad.mit.edu	37	11	4976936	4976936	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:4976936A>G	uc010qyt.2	-	0	8	c.8T>C	c.(7-9)aTt>aCt	p.I3T		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGTTGATAATGGACATGAT	0.428													G	4976936	A	G	4976936	3	3	19	1	0	0	0	0	1	0	0	0	11086	101	4	4	935	4	OR51A2	11	4976936	Missense_Mutation	SNP	A	TCGA-06-0140-01A-01D-1490-08	31416	4976936	130029580	33	1212											
MS4A7	58475	broad.mit.edu	37	11	60161321	60161321	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:60161321G>A	uc001npe.3	+	6	855	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	MS4A7_uc001npf.3_Missense_Mutation_p.R237Q|MS4A7_uc001npg.3_Missense_Mutation_p.R192Q|MS4A7_uc001nph.3_Missense_Mutation_p.R192Q|MS4A14_uc001npi.3_Intron	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	237						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AGTTCTTCACGGTCTTGGATA	0.373													A	60161321	G	A	60161321	3	1	19	1	0	0	0	0	1	0	0	0	9866	1116	39	2	732	2	MS4A7	11	60161321	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	55184385	60161321	74845195	34	1213											
VWCE	220001	broad.mit.edu	37	11	61032003	61032003	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:61032003G>A	uc001nra.3	-	18	2465	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	729	VWFC 6.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGCAGGGTCGGCACAGGCCCG	0.592													A	61032003	G	A	61032003	3	1	19	1	0	0	0	0	1	0	0	0	17242	1203	42	3	689	3	VWCE	11	61032003	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	870682	61032003	73974513	35	1214											
HTR3A	3359	broad.mit.edu	37	11	113857684	113857684	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:113857684G>A	uc010rxb.2	+	6	1401	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	HTR3A_uc010rxa.2_Missense_Mutation_p.A358T|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.A337T	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	352					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.A384T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GGAGAGAATCGCCTGGCTACT	0.587													A	113857684	G	A	113857684	3	1	19	1	0	0	0	0	1	0	0	0	7444	1087	38	1	1220	1	HTR3A	11	113857684	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	52825681	113857684	21148832	36	1215											
C12orf51	283450	broad.mit.edu	37	12	112721040	112721040	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr12:112721040C>T	uc021reb.1	-	7	1366	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TTGGCAGATTCGCCCTCTTTT	0.433													T	112721040	C	T	112721040	3	4	19	1	0	0	0	0	1	0	0	0	1696	893	31	2	12042	2	C12orf51	12	112721040	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		112721040	21130855	37	1216											
RB1	5925	broad.mit.edu	37	13	48951144	48951144	+	Nonsense_Mutation	SNP	C	C	T	rs4151534		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr13:48951144C>T	uc001vcb.3	+	12	1472	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	RB1_uc010act.1_Nonsense_Mutation_p.Q137*	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	436	Domain A.|Pocket; binds T and E1A.		Q -> K (in dbSNP:rs4151534).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.G435*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCTGTGGGACAGGGTTGTGT	0.353		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48951144	C	T	48951144	4	4	19	1	0	0	0	0	0	1	0	0	13098	479	17	3	1356	3	RB1	13	48951144	Nonsense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		48951144	66218734	38	1217											
ATP10A	57194	broad.mit.edu	37	15	25925003	25925003	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr15:25925003G>A	uc010ayu.3	-	20	4091	c.3985C>T	c.(3985-3987)Cgc>Tgc	p.R1329C		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1329					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCGGGAGGCGTCCCTGAGCA	0.607													A	25925003	G	A	25925003	3	1	19	1	0	0	0	0	1	0	0	0	1116	1145	40	1	518	1	ATP10A	15	25925003	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		25925003	76606389	39	1218											
RASGRP1	10125	broad.mit.edu	37	15	38818585	38818585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr15:38818585G>A	uc001zke.4	-	2	419	c.241C>T	c.(241-243)Cga>Tga	p.R81*	RASGRP1_uc001zkd.4_Nonsense_Mutation_p.R81*	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	81	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGTTACTTCGACACAGGTTT	0.458													A	38818585	G	A	38818585	4	1	19	1	0	0	0	0	0	1	0	0	13074	1066	37	2	2212	2	RASGRP1	15	38818585	Nonsense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	12893582	38818585	63712807	40	1219											
FAM86A	196483	broad.mit.edu	37	16	5143514	5143514	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:5143514G>A	uc002cyo.2	-	2	260	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	FAM86A_uc002cyp.2_Missense_Mutation_p.R71W	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	71								p.A70P(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGAAAGCACCGGGCATATTTG	0.562													A	5143514	G	A	5143514	3	1	19	1	0	0	0	0	1	0	0	0	5643	1115	39	2	805	2	FAM86A	16	5143514	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		5143514	85211239	41	1220											
DNAH3	55567	broad.mit.edu	37	16	20976074	20976074	+	Silent	SNP	C	C	T	rs149630157	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:20976074C>T	uc010vbe.2	-	52	9132	c.9132G>A	c.(9130-9132)acG>acA	p.T3044T	DNAH3_uc010vbd.2_Silent_p.T479T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3044					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCCCCTAACGTGTGGCTGA	0.498													T	20976074	C	T	20976074	2	4	19	1	0	0	0	0	0	0	0	1	4603	523	19	1		1	DNAH3	16	20976074	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	15832560	20976074	69378679	42	1221											
KIFC3	3801	broad.mit.edu	37	16	57794781	57794781	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:57794781T>C	uc002emq.3	-	15	2286	c.2089A>G	c.(2089-2091)Atc>Gtc	p.I697V	KIFC3_uc010vhw.2_Missense_Mutation_p.I595V|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.I558V|KIFC3_uc010vhx.2_Missense_Mutation_p.I555V|KIFC3_uc010cdf.3_Missense_Mutation_p.I558V|KIFC3_uc002emo.4_Missense_Mutation_p.I558V|KIFC3_uc010vhy.2_Missense_Mutation_p.I639V|KIFC3_uc002emp.3_Missense_Mutation_p.I697V|KIFC3_uc010vhz.2_Missense_Mutation_p.I719V	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	697	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GACTTGTTGATGTGCTGCGCC	0.682													C	57794781	T	C	57794781	3	2	19	1	0	0	0	0	1	0	0	0	8314	1464	51	4	437	4	KIFC3	16	57794781	Missense_Mutation	SNP	T	TCGA-06-0140-01A-01D-1490-08	36818707	57794781	32559972	43	1222											
CHST6	4166	broad.mit.edu	37	16	75513386	75513386	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:75513386C>T	uc021tlj.1	-	0	341	c.341G>A	c.(340-342)cGc>cAc	p.R114H	CHST6_uc002fef.3_Missense_Mutation_p.R114H|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.R114H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	114					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGGTTGCGGCGCCAAGGCAG	0.672													T	75513386	C	T	75513386	3	4	19	1	0	0	0	0	1	0	0	0	3408	768	27	1	850	1	CHST6	16	75513386	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	17718605	75513386	14841367	44	1223											
ADAMTS18	170692	broad.mit.edu	37	16	77355016	77355016	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:77355016C>G	uc002ffc.4	-	14	2666	c.2247G>C	c.(2245-2247)aaG>aaC	p.K749N	ADAMTS18_uc010chc.1_Missense_Mutation_p.K337N|ADAMTS18_uc002ffe.1_Missense_Mutation_p.K445N	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	749	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						CTTTATAAAACTTGCAAGTTG	0.383													G	77355016	C	G	77355016	3	3	19	1	0	0	0	0	1	0	0	0	263	564	20	5	1454	5	ADAMTS18	16	77355016	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	1841630	77355016	12999737	45	1224											
KRT16	3868	broad.mit.edu	37	17	39767345	39767345	+	Silent	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr17:39767345G>A	uc002hxg.4	-	3	1048	c.909C>T	c.(907-909)gaC>gaT	p.D303D	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	303	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGGTCTCAGCGTCTCTGCGGT	0.607													A	39767345	G	A	39767345	2	1	19	1	0	0	0	0	0	0	0	1	8453	1136	40	1		1	KRT16	17	39767345	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08		39767345	41427865	46	1225											
CILP2	148113	broad.mit.edu	37	19	19656153	19656153	+	Silent	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:19656153G>A	uc002nmw.4	+	7	2902	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	CILP2_uc002nmv.4_Silent_p.P933P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	933						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCCCAACCCGCAGGAGTTCC	0.662													A	19656153	G	A	19656153	2	1	19	1	0	0	0	0	0	0	0	1	3430	1074	38	1		1	CILP2	19	19656153	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08		19656153	39472830	47	1226											
LMTK3	114783	broad.mit.edu	37	19	49013377	49013377	+	Silent	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:49013377C>T	uc002pjk.3	-	3	351	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGGTCTCCTCCGCAGGGGGAG	0.622													T	49013377	C	T	49013377	2	4	19	1	0	0	0	0	0	0	0	1	8860	639	23	2		2	LMTK3	19	49013377	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	29357224	49013377	10115606	48	1227											
ZNF71	58491	broad.mit.edu	37	19	57133286	57133286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:57133286G>A	uc002qnm.4	+	2	869	c.631G>A	c.(631-633)Gag>Aag	p.E211K	ZNF71_uc021vcg.1_Missense_Mutation_p.E211K	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	211						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACACGGGCGAGAAGCCGTA	0.657													A	57133286	G	A	57133286	3	1	19	1	0	0	0	0	1	0	0	0	18111	1059	37	2	633	2	ZNF71	19	57133286	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	8119909	57133286	1995697	49	1228											
PTPRT	11122	broad.mit.edu	37	20	41101086	41101086	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr20:41101086C>T	uc002xkg.3	-	7	1454	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M	PTPRT_uc010ggj.3_Missense_Mutation_p.V424M	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	424	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTACTGCACGGTGAGGTTG	0.607													T	41101086	C	T	41101086	3	4	19	1	0	0	0	0	1	0	0	0	12812	536	19	1	3212	1	PTPRT	20	41101086	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		41101086	21924434	50	1229											
ADM2	79924	broad.mit.edu	37	22	50921222	50921222	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr22:50921222G>A	uc003blj.3	+	1	629	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	ADM2_uc011ary.2_Missense_Mutation_p.G113S	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN	Homo sapiens adrenomedullin 2 (ADM2), transcript variant 1, mRNA.	113					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGCTGGGCACCTGCCA	0.701													A	50921222	G	A	50921222	3	1	19	1	0	0	0	0	1	0	0	0	322	1232	43	3	343	3	ADM2	22	50921222	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		50921222	383344	51	1230											
BCOR	54880	broad.mit.edu	37	X	39932184	39932185	+	Frame_Shift_Ins	INS	-	-	CAGAC			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chrX:39932184_39932185insCAGAC	uc004den.4	-	3	2706_2707	c.2414_2415insGTCTG	c.(2413-2415)tacfs	p.Y805fs	BCOR_uc004dep.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004dem.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004deq.4_Frame_Shift_Ins_p.Y805fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	805					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAAGGTCTACGTAGACAAGCTT	0.515			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						CAGAC	39932185	-	CAGAC	39932184	7	5	19	1	0	1	1	0	0	0	0	0	1386	1140	40	0	2900	0	BCOR	23	39932184	Frame_Shift_Ins	INS	-	TCGA-06-0140-01A-01D-1490-08		39932184	115338376	52	1231											
AKAP4	8852	broad.mit.edu	37	X	49957245	49957245	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chrX:49957245G>A	uc004dow.1	-	4	2243	c.2119C>T	c.(2119-2121)Ctc>Ttc	p.L707F	AKAP4_uc004dou.1_Missense_Mutation_p.L698F|AKAP4_uc004dov.1_Missense_Mutation_p.L324F|AKAP4_uc010njp.1_Missense_Mutation_p.L529F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	707					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATAAGGCAGAGCTTCATCACA	0.478													A	49957245	G	A	49957245	3	1	19	1	0	0	0	0	1	0	0	0	453	971	34	3	453	3	AKAP4	23	49957245	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	10025061	49957245	105313315	53	1232											
CATSPER4	378807	broad.mit.edu	37	1	26524882	26524882	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr1:26524882G>A	uc010oez.2	+	5	784	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	CATSPER4_uc010oey.1_Missense_Mutation_p.G84S|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	262					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCAGGACGGCTGGGTGGA	0.557													A	26524882	G	A	26524882	3	1	20	1	0	0	0	0	1	0	0	0	2690	1116	39	2	806	2	CATSPER4	1	26524882	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		26524882	222725739	1	1233											
GFPT1	2673	broad.mit.edu	37	2	69583664	69583664	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr2:69583664T>C	uc002sfi.2	-	6	752	c.569A>G	c.(568-570)aAa>aGa	p.K190R	GFPT1_uc002sfh.3_Missense_Mutation_p.K190R	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	190	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATGAACACTTTTAAACACAAG	0.358													C	69583664	T	C	69583664	3	2	20	1	0	0	0	0	1	0	0	0	6345	1841	64	4	1528	4	GFPT1	2	69583664	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		69583664	173615709	2	1234											
SCRN3	79634	broad.mit.edu	37	2	175287615	175287615	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr2:175287615A>G	uc002uiq.3	+	5	855	c.757A>G	c.(757-759)Aat>Gat	p.N253D	SCRN3_uc010zen.2_Missense_Mutation_p.N246D|SCRN3_uc010zeo.2_Missense_Mutation_p.N51D|SCRN3_uc002uis.3_5'UTR	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.	253					proteolysis		dipeptidase activity	p.G252R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TTCTCTAGGAAATATAACTTT	0.318													G	175287615	A	G	175287615	3	3	20	1	0	0	0	0	1	0	0	0	13940	14	1	4	775	4	SCRN3	2	175287615	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08	105703951	175287615	67911758	3	1235											
QRICH1	54870	broad.mit.edu	37	3	49094721	49094721	+	Silent	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr3:49094721A>G	uc010hkq.3	-	3	1208	c.912T>C	c.(910-912)ccT>ccC	p.P304P	QRICH1_uc003cvu.3_Silent_p.P304P|QRICH1_uc003cvv.3_Silent_p.P304P|QRICH1_uc021wxr.1_Silent_p.P241P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	304	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTTCTCCTGTAGGGCTAGTAA	0.557													G	49094721	A	G	49094721	2	3	20	1	0	0	0	0	0	0	0	1	12879	407	15	4		4	QRICH1	3	49094721	Silent	SNP	A	TCGA-06-0141-01A-01D-1490-08		49094721	148927709	4	1236											
N4BP2	55728	broad.mit.edu	37	4	40122570	40122570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:40122570G>T	uc003guy.4	+	8	3177	c.2839G>T	c.(2839-2841)Gga>Tga	p.G947*	N4BP2_uc010ifq.3_Nonsense_Mutation_p.G867*|N4BP2_uc010ifr.3_Nonsense_Mutation_p.G867*	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	947						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTCCAATCTAGGAAGTTCTGA	0.408													T	40122570	G	T	40122570	4	4	20	1	0	0	0	0	0	1	0	0	10110	1001	35	5	2865	5	N4BP2	4	40122570	Nonsense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		40122570	151031706	5	1237											
LRRC66	339977	broad.mit.edu	37	4	52883712	52883712	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:52883712T>C	uc003gzi.3	-	0	75	c.68A>G	c.(67-69)aAt>aGt	p.N23S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	23						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTTGATGCATTTGTCATTAT	0.299													C	52883712	T	C	52883712	3	2	20	1	0	0	0	0	1	0	0	0	9018	1493	52	4	2590	4	LRRC66	4	52883712	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08	12761142	52883712	138270564	6	1238											
ENOPH1	58478	broad.mit.edu	37	4	83372300	83372300	+	Silent	SNP	G	G	A	rs143039236	by1000genomes	TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:83372300G>A	uc003hmv.3	+	2	548	c.291G>A	c.(289-291)gtG>gtA	p.V97V	ENOPH1_uc003hmx.3_Intron	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	Homo sapiens enolase-phosphatase 1 (ENOPH1), mRNA.	97					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TAGATAATGTGTGCTGGCAGA	0.562													A	83372300	G	A	83372300	2	1	20	1	0	0	0	0	0	0	0	1	5124	1364	48	3		3	ENOPH1	4	83372300	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08	30488588	83372300	107781976	7	1239											
ABCG2	9429	broad.mit.edu	37	4	89053011	89053011	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:89053011T>C	uc003hrg.3	-	3	815	c.322A>G	c.(322-324)Ata>Gta	p.I108V	ABCG2_uc003hrh.3_Missense_Mutation_p.I108V|ABCG2_uc003hrf.3_5'UTR|ABCG2_uc003hri.1_Missense_Mutation_p.I108V|ABCG2_uc003hrj.1_Missense_Mutation_p.I108V|ABCG2_uc003hrk.1_Missense_Mutation_p.I108V	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	108	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GCTCCATTTATCAGAACATCT	0.378													C	89053011	T	C	89053011	3	2	20	1	0	0	0	0	1	0	0	0	69	1435	50	4	1697	4	ABCG2	4	89053011	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08	5680711	89053011	102101265	8	1240											
PCDHAC2	56136	broad.mit.edu	37	5	140263677	140263677	+	Silent	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr5:140263677G>A	uc003lif.2	+	0	1824	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S608S|PCDHAC2_uc003lid.3_Silent_p.S608S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAATTGC	0.682													A	140263677	G	A	140263677	2	1	20	1	0	0	0	0	0	0	0	1	11533	1132	40	1		1	PCDHAC2	5	140263677	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08		140263677	40651583	9	1241											
PCDHB14	56122	broad.mit.edu	37	5	140604583	140604583	+	Silent	SNP	C	C	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr5:140604583C>A	uc003ljb.3	+	0	1506	c.1506C>A	c.(1504-1506)tcC>tcA	p.S502S		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCTTGGTCTCCA	0.647													A	140604583	C	A	140604583	2	1	20	1	0	0	0	0	0	0	0	1	11539	668	24	5		5	PCDHB14	5	140604583	Silent	SNP	C	TCGA-06-0141-01A-01D-1490-08	340906	140604583	40310677	10	1242											
CFB	717	broad.mit.edu	37	6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr6:31901955G>A	uc003nyf.3	+	5	992	c.728G>A	c.(727-729)cGt>cAt	p.R243H	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.R243H|CFB_uc010jtk.3_Missense_Mutation_p.R111H|CFB_uc011doq.2_Missense_Mutation_p.R214H|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	259					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCCTGGGCCGTAAAATCCAA	0.547													A	31901955	G	A	31901955	3	1	20	1	0	0	0	0	1	0	0	0	3278	1145	40	1		1	CFB	6	31901955	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		31901955	139213112	11	1243											
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr7:72398976A>G	uc003twk.2	+	3	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_uc003twj.3_Missense_Mutation_p.N94S|POM121_uc010lam.1_Missense_Mutation_p.N94S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	359	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													G	72398976	A	G	72398976	3	3	20	1	0	0	0	0	1	0	0	0	12239	101	4	4	291	4	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		72398976	86739687	12	1244											
ZFAT	57623	broad.mit.edu	37	8	135533235	135533235	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr8:135533235T>G	uc003yup.3	-	12	3311	c.3125A>C	c.(3124-3126)aAg>aCg	p.K1042T	ZFAT_uc011ljj.2_Missense_Mutation_p.K161T|ZFAT_uc003yun.3_Missense_Mutation_p.K1030T|ZFAT_uc003yuo.3_Missense_Mutation_p.K1030T|ZFAT_uc010meh.3_Missense_Mutation_p.K1030T|ZFAT_uc010mej.3_Missense_Mutation_p.K980T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.K1030T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AACAGGACACTTCAAACCACC	0.408													G	135533235	T	G	135533235	3	3	20	1	0	0	0	0	1	0	0	0	17629	1609	56	5	622	5	ZFAT	8	135533235	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		135533235	10830787	13	1245											
IARS	3376	broad.mit.edu	37	9	95004467	95004467	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr9:95004467G>C	uc004art.1	-	28	3403	c.3146C>G	c.(3145-3147)tCg>tGg	p.S1049W	IARS_uc004ars.1_Missense_Mutation_p.S894W|IARS_uc004aru.3_Missense_Mutation_p.S1049W|IARS_uc010mqr.2_Missense_Mutation_p.S939W|IARS_uc010mqt.2_Missense_Mutation_p.S272W	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	1049					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GACTTTATCCGATGGAGAAAC	0.388													C	95004467	G	C	95004467	3	2	20	1	0	0	0	0	1	0	0	0	7473	1059	37	5	666	5	IARS	9	95004467	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		95004467	46208964	14	1246											
RSU1	6251	broad.mit.edu	37	10	16794981	16794981	+	Missense_Mutation	SNP	T	T	C	rs149666298	byFrequency	TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:16794981T>C	uc001iok.3	-	4	721	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	RSU1_uc001iol.3_Missense_Mutation_p.Y140C|RSU1_uc001iom.3_Missense_Mutation_p.Y87C|RSU1_uc001ion.3_Missense_Mutation_p.Y140C	NM_152724	NP_689937	Q15404	RSU1_HUMAN	Homo sapiens Ras suppressor protein 1 (RSU1), transcript variant 2, mRNA.	140					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		GTCACTTAGATAGAGTGCACG	0.398													C	16794981	T	C	16794981	3	2	20	1	0	0	0	0	1	0	0	0	13716	1406	49	4	430	4	RSU1	10	16794981	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		16794981	118739766	15	1247											
MAP3K8	1326	broad.mit.edu	37	10	30739369	30739369	+	Silent	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:30739369A>G	uc001ivi.2	+	4	1299	c.687A>G	c.(685-687)gaA>gaG	p.E229E	MAP3K8_uc009xlf.2_Silent_p.E229E|MAP3K8_uc001ivj.2_Silent_p.E229E	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	229	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GAGAATTTGAAATTATTTGGG	0.418													G	30739369	A	G	30739369	2	3	20	1	0	0	0	0	0	0	0	1	9256	11	1	4		4	MAP3K8	10	30739369	Silent	SNP	A	TCGA-06-0141-01A-01D-1490-08	13944388	30739369	104795378	16	1248											
ZNF37A	7587	broad.mit.edu	37	10	38407378	38407378	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:38407378C>A	uc001izk.3	+	7	2129	c.1299C>A	c.(1297-1299)caC>caA	p.H433Q	ZNF37A_uc001izl.3_Missense_Mutation_p.H433Q|ZNF37A_uc001izm.3_Missense_Mutation_p.H433Q	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	433						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAAGAACTCACACAGGTGAGA	0.383													A	38407378	C	A	38407378	3	1	20	1	0	0	0	0	1	0	0	0	17869	477	17	5	1313	5	ZNF37A	10	38407378	Missense_Mutation	SNP	C	TCGA-06-0141-01A-01D-1490-08	7668009	38407378	97127369	17	1249											
ANK3	288	broad.mit.edu	37	10	61831909	61831909	+	Silent	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:61831909G>A	uc001jky.3	-	36	9068	c.8730C>T	c.(8728-8730)aaC>aaT	p.N2910N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2910					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAGAGAGCCGTTTGTTAACA	0.378													A	61831909	G	A	61831909	2	1	20	1	0	0	0	0	0	0	0	1	622	1136	40	1		1	ANK3	10	61831909	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08	23424531	61831909	73702838	18	1250											
OR4C15	81309	broad.mit.edu	37	11	55322828	55322828	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:55322828A>T	uc010rig.2	+	0	1046	c.1046A>T	c.(1045-1047)cAg>cTg	p.Q349L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAAGTAAAACAGGCCATGAGG	0.328										HNSCC(20;0.049)			T	55322828	A	T	55322828	3	4	20	1	0	0	0	0	1	0	0	0	11048	188	7	5	1048	5	OR4C15	11	55322828	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		55322828	79683688	19	1251											
KRTAP5-10	387273	broad.mit.edu	37	11	71277242	71277242	+	Nonstop_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:71277242A>G	uc001oqt.1	+	0	634	c.609A>G	c.(607-609)tgA>tgG	p.*203W		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	0						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTAAGATCTGAGGCTCTGAAC	0.547													G	71277242	A	G	71277242	4	3	20	1	0	0	0	0	0	0	0	0	8559	317	11	4	611	4	KRTAP5-10	11	71277242	Nonstop_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08	15954414	71277242	63729274	20	1252											
BIRC2	329	broad.mit.edu	37	11	102220791	102220791	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:102220791G>T	uc001pgy.3	+	1	1605	c.206G>T	c.(205-207)cGt>cTt	p.R69L	BIRC2_uc010ruq.2_Missense_Mutation_p.R20L|BIRC2_uc010rur.2_Missense_Mutation_p.R69L	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	69					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGTCTTGCTCGTGCTGGTTTT	0.423													T	102220791	G	T	102220791	3	4	20	1	0	0	0	0	1	0	0	0	1435	1145	40	5	208	5	BIRC2	11	102220791	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08	30943549	102220791	32785725	21	1253											
KLRC2	3823	broad.mit.edu	37	12	10573038	10573038	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:10573038T>C	uc001qyi.1	-	0	157	c.112A>G	c.(112-114)Ata>Gta	p.I38V	KLRC2_uc001qyf.3_Missense_Mutation_p.I38V|KLRC2_uc021qvc.1_Missense_Mutation_p.I38V|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Missense_Mutation_p.I38V	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	38					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTTGGAATATTTCCTGTTCG	0.378													C	10573038	T	C	10573038	3	2	20	1	0	0	0	0	1	0	0	0	8416	1493	52	4		4	KLRC2	12	10573038	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		10573038	123278857	22	1254											
KLRC2	3823	broad.mit.edu	37	12	10588474	10588474	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:10588474T>C	uc001qyh.3	-	0	119	c.112A>G	c.(112-114)Ata>Gta	p.I38V	KLRC2_uc010she.1_Missense_Mutation_p.I38V|KLRC2_uc001qyk.2_Missense_Mutation_p.I38V	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	38					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTTGGAATATTTCCTGTTCG	0.383													C	10588474	T	C	10588474	3	2	20	1	0	0	0	0	1	0	0	0	8416	1493	52	4	607	4	KLRC2	12	10588474	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08	15436	10588474	123263421	23	1255											
TMCC3	57458	broad.mit.edu	37	12	94975965	94975965	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:94975965A>G	uc001tdj.2	-	1	546	c.428T>C	c.(427-429)aTc>aCc	p.I143T	TMCC3_uc001tdi.2_Missense_Mutation_p.I112T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	143						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATTCTGCTCGATCTCTCTGAG	0.458													G	94975965	A	G	94975965	3	3	20	1	0	0	0	0	1	0	0	0	15991	333	12	4	1017	4	TMCC3	12	94975965	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08	84387491	94975965	38875930	24	1256											
SACS	26278	broad.mit.edu	37	13	23928995	23928995	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr13:23928995A>G	uc001uon.2	-	7	2345	c.1756T>C	c.(1756-1758)Tac>Cac	p.Y586H	SACS_uc001uoo.2_Missense_Mutation_p.Y439H|SACS_uc001uop.1_Missense_Mutation_p.Y373H|SACS_uc001uoq.1_Missense_Mutation_p.Y439H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	586					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTTTGTGTATTCTAAATTT	0.468													G	23928995	A	G	23928995	3	3	20	1	0	0	0	0	1	0	0	0	13804	449	16	4	11995	4	SACS	13	23928995	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		23928995	91240883	25	1257											
UBE3A	7337	broad.mit.edu	37	15	25616938	25616938	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr15:25616938T>C	uc001zaq.3	-	6	1152	c.392A>G	c.(391-393)gAg>gGg	p.E131G	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.E108G|UBE3A_uc001zas.3_Missense_Mutation_p.E128G|UBE3A_uc001zat.3_Missense_Mutation_p.E108G	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	131					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATATACCTTCTCTTCTGTTAA	0.308													C	25616938	T	C	25616938	3	2	20	1	0	0	0	0	1	0	0	0	16876	1551	54	4	2267	4	UBE3A	15	25616938	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		25616938	76914454	26	1258											
MIS12	79003	broad.mit.edu	37	17	5392643	5392643	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr17:5392643A>G	uc002gce.3	+	2	1014	c.461A>G	c.(460-462)cAg>cGg	p.Q154R	MIS12_uc002gcd.3_Missense_Mutation_p.Q154R|MIS12_uc021tom.1_Missense_Mutation_p.Q154R	NM_024039	NP_076944	Q9H081	MIS12_HUMAN	Homo sapiens MIS12, MIND kinetochore complex component, homolog (S. pombe) (MIS12), mRNA.	154					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AAACTCAAACAGACGTTGACT	0.393													G	5392643	A	G	5392643	3	3	20	1	0	0	0	0	1	0	0	0	9594	188	7	4	463	4	MIS12	17	5392643	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		5392643	75802567	27	1259											
MYH2	4620	broad.mit.edu	37	17	10430104	10430104	+	Silent	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr17:10430104G>A	uc010coi.3	-	29	4127	c.3999C>T	c.(3997-3999)aaC>aaT	p.N1333N	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.N1333N|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1333					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.N1333N(2)		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						GCGCCAGGGCGTTCTTGGCCT	0.498													A	10430104	G	A	10430104	2	1	20	1	0	0	0	0	0	0	0	1	10035	1136	40	1		1	MYH2	17	10430104	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08	5037461	10430104	70765106	28	1260											
MALT1	10892	broad.mit.edu	37	18	56378165	56378165	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr18:56378165A>G	uc002lhm.1	+	6	1196	c.938A>G	c.(937-939)gAg>gGg	p.E313G	MALT1_uc002lhn.1_Intron	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	313					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGAACAGATGAGGCAGTGGAG	0.388			T	BIRC3	MALT								G	56378165	A	G	56378165	3	3	20	1	0	0	0	0	1	0	0	0	9202	304	11	4	964	4	MALT1	18	56378165	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		56378165	21699083	29	1261											
ZNF28	7576	broad.mit.edu	37	19	53303147	53303147	+	Missense_Mutation	SNP	C	C	T	rs146037495		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr19:53303147C>T	uc002qad.3	-	3	2108	c.1951G>A	c.(1951-1953)Gta>Ata	p.V651I	ZNF28_uc002qac.3_Missense_Mutation_p.V597I|ZNF28_uc010eqe.3_Missense_Mutation_p.V597I|ZNF28_uc021uza.1_Missense_Mutation_p.V598I	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGATGGTATACGAGGGATGAC	0.423													T	53303147	C	T	53303147	3	4	20	1	0	0	0	0	1	0	0	0	17810	536	19	1	209	1	ZNF28	19	53303147	Missense_Mutation	SNP	C	TCGA-06-0141-01A-01D-1490-08		53303147	5825836	30	1262											
DCAF12L2	340578	broad.mit.edu	37	X	125298905	125298905	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chrX:125298905G>A	uc004euk.2	-	0	1176	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	335								p.R335C(3)|p.R335H(1)|p.P334P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGCGCTGGCGCGGATCCAGG	0.627													A	125298905	G	A	125298905	3	1	20	1	0	0	0	0	1	0	0	0	4265	1087	38	1	392	1	DCAF12L2	23	125298905	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		125298905	29971655	31	1263											
EPHB2	2048	broad.mit.edu	37	1	23208926	23208926	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:23208926G>A	uc009vqj.1	+	5	1523	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EPHB2_uc001bge.3_Missense_Mutation_p.D460N|EPHB2_uc001bgf.3_Missense_Mutation_p.D460N|EPHB2_uc010odu.2_Missense_Mutation_p.D460N	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	460	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTCCCAGCCGGACCAGCCCAA	0.607													A	23208926	G	A	23208926	3	1	21	1	0	0	0	0	1	0	0	0	5175	1174	41	3	1400	3	EPHB2	1	23208926	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		23208926	226041695	1	1264											
AMPD2	271	broad.mit.edu	37	1	110171969	110171969	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:110171969G>A	uc009wfh.1	+	14	2423	c.1881G>A	c.(1879-1881)gtG>gtA	p.V627V	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.V546V|AMPD2_uc001dyc.1_Silent_p.V627V|AMPD2_uc010ovr.1_Silent_p.V552V|AMPD2_uc001dyd.1_Silent_p.V508V|AMPD2_uc001dye.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	627					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGACAGCGTGGATGATGAGT	0.587													A	110171969	G	A	110171969	2	1	21	1	0	0	0	0	0	0	0	1	586	1335	47	3		3	AMPD2	1	110171969	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	86963043	110171969	139078652	2	1265											
COPA	1314	broad.mit.edu	37	1	160268961	160268961	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:160268961G>A	uc001fvv.4	-	17	2182	c.1788C>T	c.(1786-1788)ccC>ccT	p.P596P	COPA_uc009wti.3_Silent_p.P587P	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	587					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGTACCCGGGGACGACACT	0.463													A	160268961	G	A	160268961	2	1	21	1	0	0	0	0	0	0	0	1	3727	1219	43	3		3	COPA	1	160268961	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	50096992	160268961	88981660	3	1266											
EPHX1	2052	broad.mit.edu	37	1	226027691	226027691	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:226027691G>A	uc001hpk.3	+	5	964	c.884G>A	c.(883-885)aGg>aAg	p.R295K	EPHX1_uc001hpl.3_Missense_Mutation_p.R295K	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	295					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					AGCCTGATGAGGGAGAGCGGC	0.607													A	226027691	G	A	226027691	3	1	21	1	0	0	0	0	1	0	0	0	5179	1000	35	3	902	3	EPHX1	1	226027691	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	65758730	226027691	23222930	4	1267											
BIRC6	57448	broad.mit.edu	37	2	32740406	32740406	+	Missense_Mutation	SNP	G	G	A	rs112352145		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:32740406G>A	uc010ezu.3	+	54	11052	c.10918G>A	c.(10918-10920)Gct>Act	p.A3640T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3640					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.A3612S(1)|p.A3640S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGGAGTCTGGCTAGTTTCTG	0.438													A	32740406	G	A	32740406	3	1	21	1	0	0	0	0	1	0	0	0	1438	1203	42	3	11136	3	BIRC6	2	32740406	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		32740406	210458967	5	1268											
RGPD4	285190	broad.mit.edu	37	2	108476261	108476261	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:108476261C>T	uc010ywk.2	+	11	1800	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	573					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGCCTTCAACCTGCTCTGCTT	0.328													T	108476261	C	T	108476261	3	4	21	1	0	0	0	0	1	0	0	0	13288	681	24	3	1764	3	RGPD4	2	108476261	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	75735855	108476261	134723112	6	1269											
GCC2	9648	broad.mit.edu	37	2	109103046	109103046	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:109103046C>T	uc002tec.3	+	15	4026	c.3872C>T	c.(3871-3873)aCg>aTg	p.T1291M	GCC2_uc002ted.3_Missense_Mutation_p.T1190M	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1291					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CACCAGCGTACGCTAAGTGCA	0.502													T	109103046	C	T	109103046	3	4	21	1	0	0	0	0	1	0	0	0	6286	536	19	1	3934	1	GCC2	2	109103046	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	626785	109103046	134096327	7	1270											
ITGA4	3676	broad.mit.edu	37	2	182386969	182386969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:182386969G>A	uc002unu.3	+	17	2737	c.1974G>A	c.(1972-1974)atG>atA	p.M658I	ITGA4_uc010frj.1_Missense_Mutation_p.M140I|ITGA4_uc002unv.3_5'UTR	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	658					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGACATTGATGTTGAATGTGT	0.333													A	182386969	G	A	182386969	3	1	21	1	0	0	0	0	1	0	0	0	7878	1377	48	3	2044	3	ITGA4	2	182386969	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	73283923	182386969	60812404	8	1271											
VIL1	7429	broad.mit.edu	37	2	219301876	219301876	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:219301876C>T	uc002vib.3	+	15	2023	c.2001C>T	c.(1999-2001)aaC>aaT	p.N667N	VIL1_uc010zke.2_Silent_p.N356N|VIL1_uc002via.3_Silent_p.N667N	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	667	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACATGCCAACGAGGAGGAGA	0.572													T	219301876	C	T	219301876	2	4	21	1	0	0	0	0	0	0	0	1	17161	535	19	1		1	VIL1	2	219301876	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08	36914907	219301876	23897497	9	1272											
PAX3	5077	broad.mit.edu	37	2	223084911	223084911	+	Missense_Mutation	SNP	G	G	A	rs45607236		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:223084911G>A	uc010fwo.3	-	6	1502	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	PAX3_uc002vmt.2_Missense_Mutation_p.S374L|PAX3_uc002vmy.2_Missense_Mutation_p.S373L|PAX3_uc002vmv.2_Missense_Mutation_p.S374L|PAX3_uc002vmw.2_Missense_Mutation_p.S374L|PAX3_uc002vmx.2_Missense_Mutation_p.S374L	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	374					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.S374S(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)		GGAGGGCCCCGACGGAGGCAC	0.552			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						A	223084911	G	A	223084911	3	1	21	1	0	0	0	0	1	0	0	0	11480	1059	37	2	440	2	PAX3	2	223084911	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	3783035	223084911	20114462	10	1273											
C2orf57	165100	broad.mit.edu	37	2	232457869	232457869	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:232457869C>T	uc002vrz.3	+	0	295	c.207C>T	c.(205-207)gaC>gaT	p.D69D		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.	69										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GAGACAAAGACAAGAGTGCAG	0.532													T	232457869	C	T	232457869	2	4	21	1	0	0	0	0	0	0	0	1	2178	477	17	3		3	C2orf57	2	232457869	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08	9372958	232457869	10741504	11	1274											
CCR8	1237	broad.mit.edu	37	3	39374277	39374277	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:39374277C>T	uc010hhr.2	+	1	593	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CCR8_uc003cjm.2_Missense_Mutation_p.T69M|CCR8_uc021wwe.1_Missense_Mutation_p.T152M	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	152					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATGGGCACAACGCTGTGCCTG	0.502													T	39374277	C	T	39374277	3	4	21	1	0	0	0	0	1	0	0	0	2947	536	19	1	457	1	CCR8	3	39374277	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		39374277	158648153	12	1275											
CAMKV	79012	broad.mit.edu	37	3	49898275	49898275	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:49898275T>C	uc003cxt.1	-	7	842	c.649A>G	c.(649-651)Aat>Gat	p.N217D	CAMKV_uc011bcy.1_Missense_Mutation_p.N142D|CAMKV_uc003cxv.1_Missense_Mutation_p.N189D|CAMKV_uc003cxw.1_Missense_Mutation_p.N49D|CAMKV_uc003cxx.1_Missense_Mutation_p.N49D|CAMKV_uc003cxu.2_Missense_Mutation_p.N217D|CAMKV_uc011bcz.1_Missense_Mutation_p.N180D|CAMKV_uc011bda.1_Missense_Mutation_p.N174D|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	217	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAAGGTGGATTGCCTGAAAGC	0.512													C	49898275	T	C	49898275	3	2	21	1	0	0	0	0	1	0	0	0	2608	1812	63	4	872	4	CAMKV	3	49898275	Missense_Mutation	SNP	T	TCGA-06-0142-01A-01D-1490-08	10523998	49898275	148124155	13	1276											
NSUN3	63899	broad.mit.edu	37	3	93813043	93813043	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:93813043G>C	uc003drl.1	+	3	642	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.	176							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GCAGACGTTGGAATCTTTCAT	0.368													C	93813043	G	C	93813043	3	2	21	1	0	0	0	0	1	0	0	0	10679	1175	41	5	540	5	NSUN3	3	93813043	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	43914768	93813043	104209387	14	1277											
RBM47	54502	broad.mit.edu	37	4	40440502	40440502	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:40440502G>A	uc003gvc.2	-	3	1119	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	RBM47_uc003gvd.2_Missense_Mutation_p.R137C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R99C|RBM47_uc003gvg.1_Missense_Mutation_p.R137C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	137	RRM 1.					nucleus	nucleotide binding|RNA binding	p.R137C(4)|p.I136I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCCCGGGCGGATCTCGTAG	0.622													A	40440502	G	A	40440502	3	1	21	1	0	0	0	0	1	0	0	0	13141	1116	39	2	1388	2	RBM47	4	40440502	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		40440502	150713774	15	1278											
KDR	3791	broad.mit.edu	37	4	55955885	55955885	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:55955885C>T	uc003has.3	-	23	3579	c.3277G>A	c.(3277-3279)Gtt>Att	p.V1093I	KDR_uc003hat.1_Missense_Mutation_p.V1093I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1093	Protein kinase.				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			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)	CACAGCAAAACACCAAAAGAC	0.433			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			T	55955885	C	T	55955885	3	4	21	1	0	0	0	0	1	0	0	0	8139	478	17	3	821	3	KDR	4	55955885	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	15515383	55955885	135198391	16	1279											
BMP2K	55589	broad.mit.edu	37	4	79772148	79772148	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:79772148G>A	uc003hlk.3	+	6	987	c.821G>A	c.(820-822)tGt>tAt	p.C274Y	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.C274Y	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	274	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GTTGCTATCTGTGATGGCAAC	0.363													A	79772148	G	A	79772148	3	1	21	1	0	0	0	0	1	0	0	0	1460	1377	48	3	847	3	BMP2K	4	79772148	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	23816263	79772148	111382128	17	1280											
ENPEP	2028	broad.mit.edu	37	4	111397732	111397732	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:111397732G>A	uc003iab.4	+	0	504	c.162G>A	c.(160-162)gcG>gcA	p.A54A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	54					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.A54A(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CGGGCACTGCGCCAGCTCCTT	0.647													A	111397732	G	A	111397732	2	1	21	1	0	0	0	0	0	0	0	1	5128	1074	38	1		1	ENPEP	4	111397732	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	31625584	111397732	79756544	18	1281											
C4orf46	201725	broad.mit.edu	37	4	159590866	159590866	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:159590866C>T	uc003iqa.2	-	1	490	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	C4orf46_uc010iqp.1_Non-coding_Transcript|ETFDH_uc010iqq.3_5'Flank|ETFDH_uc003iqb.3_5'Flank|ETFDH_uc011cjg.2_5'Flank|ETFDH_uc010iqr.3_5'Flank	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN	Homo sapiens chromosome 4 open reading frame 46 (C4orf46), mRNA.	81										kidney(1)|lung(3)|skin(1)	5						AGTTCTTCCACTTGAGCTGAT	0.363													T	159590866	C	T	159590866	3	4	21	1	0	0	0	0	1	0	0	0	2274	565	20	3	104	3	C4orf46	4	159590866	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	48193134	159590866	31563410	19	1282											
HCN1	348980	broad.mit.edu	37	5	45695840	45695840	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:45695840G>A	uc003jok.3	-	0	381	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	119	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTTTCCACCGCCTTCTGGCT	0.602													A	45695840	G	A	45695840	3	1	21	1	0	0	0	0	1	0	0	0	6996	1087	38	1	2348	1	HCN1	5	45695840	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		45695840	135219420	20	1283											
TMEM161B	153396	broad.mit.edu	37	5	87516531	87516531	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:87516531G>C	uc003kjc.3	-	4	420	c.295C>G	c.(295-297)Cat>Gat	p.H99D	TMEM161B_uc011cty.2_Missense_Mutation_p.H88D|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_5'UTR|TMEM161B_uc011ctx.2_5'UTR	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	99						integral to membrane		p.H99Y(2)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GGAAAGTAATGCAATGCTGGa	0.299													C	87516531	G	C	87516531	3	2	21	1	0	0	0	0	1	0	0	0	16074	1319	46	5	1200	5	TMEM161B	5	87516531	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	41820691	87516531	93398729	21	1284											
BRD8	10902	broad.mit.edu	37	5	137485483	137485483	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:137485483C>T	uc003lcf.1	-	22	3179	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1042					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGAGCCTCCCCCTAGGAA	0.458													T	137485483	C	T	137485483	3	4	21	1	0	0	0	0	1	0	0	0	1506	864	30	3	603	3	BRD8	5	137485483	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	49968952	137485483	43429777	22	1285											
PCDHB14	56122	broad.mit.edu	37	5	140605384	140605384	+	Silent	SNP	G	G	A	rs147177582		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:140605384G>A	uc003ljb.3	+	0	2307	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	769					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGAAGCCGATTATCCCCA	0.448													A	140605384	G	A	140605384	2	1	21	1	0	0	0	0	0	0	0	1	11539	1045	37	2		2	PCDHB14	5	140605384	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	3119901	140605384	40309876	23	1286											
ARAP3	64411	broad.mit.edu	37	5	141035273	141035273	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:141035273G>A	uc003llm.3	-	30	4103	c.4025C>T	c.(4024-4026)gCc>gTc	p.A1342V	ARAP3_uc003lll.3_Missense_Mutation_p.A293V|ARAP3_uc011dbe.2_Missense_Mutation_p.A1004V|ARAP3_uc003lln.3_Missense_Mutation_p.A1173V	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1342					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTCTGACGGGCAAGGTCAGA	0.592													A	141035273	G	A	141035273	3	1	21	1	0	0	0	0	1	0	0	0	840	1203	42	3	621	3	ARAP3	5	141035273	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	429889	141035273	39879987	24	1287											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	21	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		55221822	103916841	25	1288											
TG	7038	broad.mit.edu	37	8	134144071	134144071	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr8:134144071G>A	uc003ytw.3	+	45	7919	c.7878G>A	c.(7876-7878)gcG>gcA	p.A2626A	TG_uc010mdw.3_Silent_p.A1385A|TG_uc011ljb.2_Silent_p.A995A|TG_uc011ljc.2_Silent_p.A759A	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2626					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			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)		AGCTGCTGGCGGATGTTCAGT	0.458													A	134144071	G	A	134144071	2	1	21	1	0	0	0	0	0	0	0	1	15810	1103	39	2		2	TG	8	134144071	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08		134144071	12219951	26	1289											
DNAI1	27019	broad.mit.edu	37	9	34489407	34489407	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr9:34489407T>A	uc003zum.3	+	4	541	c.348T>A	c.(346-348)gaT>gaA	p.D116E		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	116					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AAGACTCAGATGAAGGACGGC	0.527									Kartagener syndrome				A	34489407	T	A	34489407	3	1	21	1	0	0	0	0	1	0	0	0	4609	1461	51	5	366	5	DNAI1	9	34489407	Missense_Mutation	SNP	T	TCGA-06-0142-01A-01D-1490-08		34489407	106724024	27	1290											
ZNF462	58499	broad.mit.edu	37	9	109688130	109688130	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr9:109688130A>C	uc004bcz.3	+	2	2226	c.1937A>C	c.(1936-1938)gAc>gCc	p.D646A	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.D494A|ZNF462_uc004bda.3_Missense_Mutation_p.D494A	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	646					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATGAGACAGACAGCCACCCC	0.463													C	109688130	A	C	109688130	3	2	21	1	0	0	0	0	1	0	0	0	17923	275	10	5	1943	5	ZNF462	9	109688130	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08	75198723	109688130	31525301	28	1291											
LRRC18	474354	broad.mit.edu	37	10	50121549	50121549	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr10:50121549G>A	uc001jhd.3	-	0	732	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R218W	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	218						cytoplasm		p.A217T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGGTTGTCCCGGGCGTTTTGG	0.498													A	50121549	G	A	50121549	3	1	21	1	0	0	0	0	1	0	0	0	8974	1115	39	2	141	2	LRRC18	10	50121549	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		50121549	85413198	29	1292											
OR56B1	387748	broad.mit.edu	37	11	5758585	5758585	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr11:5758585T>C	uc001mbt.2	+	0	908	c.839T>C	c.(838-840)aTt>aCt	p.I280T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GCTACTTTGATTCCAGTTCTA	0.428													C	5758585	T	C	5758585	3	2	21	1	0	0	0	0	1	0	0	0	11137	1493	52	4	841	4	OR56B1	11	5758585	Missense_Mutation	SNP	T	TCGA-06-0142-01A-01D-1490-08		5758585	129247931	30	1293											
TRPC6	7225	broad.mit.edu	37	11	101323720	101323720	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr11:101323720G>A	uc001pgk.4	-	12	3187	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F	TRPC6_uc009ywy.3_Missense_Mutation_p.S805F	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	921					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGGTTCCATGGATAATTTCTC	0.348													A	101323720	G	A	101323720	3	1	21	1	0	0	0	0	1	0	0	0	16580	1174	41	3	37	3	TRPC6	11	101323720	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	95565135	101323720	33682796	31	1294											
ITGA5	3678	broad.mit.edu	37	12	54793512	54793512	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr12:54793512G>A	uc001sga.3	-	26	2826	c.2758C>T	c.(2758-2760)Cgc>Tgc	p.R920C		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	920					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.L919L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGCTCACAGCGCAGCCTGAAA	0.552											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	54793512	G	A	54793512	3	1	21	1	0	0	0	0	1	0	0	0	7879	1087	38	1	407	1	ITGA5	12	54793512	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		54793512	79058383	32	1295											
OR4K13	390433	broad.mit.edu	37	14	20502539	20502539	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:20502539A>G	uc010tkz.2	-	0	379	c.379T>C	c.(379-381)Tgc>Cgc	p.C127R		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGGGTTTGCATATGGCAACA	0.478													G	20502539	A	G	20502539	3	3	21	1	0	0	0	0	1	0	0	0	11068	217	8	4	537	4	OR4K13	14	20502539	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08		20502539	86847001	33	1296											
NID2	22795	broad.mit.edu	37	14	52535489	52535489	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:52535489A>G	uc001wzo.3	-	0	458	c.224T>C	c.(223-225)cTc>cCc	p.L75P	NID2_uc010tqs.2_Missense_Mutation_p.L75P|NID2_uc010tqt.1_Missense_Mutation_p.L75P|NID2_uc001wzp.3_Missense_Mutation_p.L75P	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	75						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACTTACGTAGAGGTTGCTGAA	0.612													G	52535489	A	G	52535489	3	3	21	1	0	0	0	0	1	0	0	0	10415	304	11	4	3991	4	NID2	14	52535489	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08	32032950	52535489	54814051	34	1297											
OTX2	5015	broad.mit.edu	37	14	57269073	57269073	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:57269073C>T	uc001xcq.3	-	5	548	c.274_splice	c.e5-1	p.V92_splice	OTX2_uc001xcp.3_Splice_Site_p.V84_splice|OTX2_uc021rtm.1_Splice_Site|OTX2_uc010aou.3_Splice_Site_p.V84_splice	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	84					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAACCATACCTTGGAAGGG	0.418													T	57269073	C	T	57269073	3	4	21	1	0	0	0	0	1	0	0	0	11321	521	18	3	623	3	OTX2	14	57269073	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	4733584	57269073	50080467	35	1298											
TMEM229B	161145	broad.mit.edu	37	14	67940183	67940183	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:67940183G>A	uc001xjk.3	-	2	868	c.458C>T	c.(457-459)cCc>cTc	p.P153L	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.P153L	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	153						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCGCCGCTGGGCTCCCCGGG	0.647													A	67940183	G	A	67940183	3	1	21	1	0	0	0	0	1	0	0	0	16145	1232	43	3	49	3	TMEM229B	14	67940183	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	10671110	67940183	39409357	36	1299											
KLC1	3831	broad.mit.edu	37	14	104135871	104135871	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:104135871C>A	uc001yno.3	+	5	1129	c.821C>A	c.(820-822)gCa>gAa	p.A274E	KLC1_uc010tyd.1_Missense_Mutation_p.A433E|KLC1_uc010tye.1_Missense_Mutation_p.A270E|KLC1_uc001ynm.1_Missense_Mutation_p.A274E|KLC1_uc010tyf.2_Missense_Mutation_p.A274E	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	274					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TACAAAGATGCAGCTAACCTA	0.328													A	104135871	C	A	104135871	3	1	21	1	0	0	0	0	1	0	0	0	8333	710	25	5	839	5	KLC1	14	104135871	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	36195688	104135871	3213669	37	1300											
HDC	3067	broad.mit.edu	37	15	50534668	50534668	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:50534668C>A	uc001zxz.3	-	11	2120	c.1778G>T	c.(1777-1779)aGt>aTt	p.S593I	HDC_uc001zxy.3_Missense_Mutation_p.S336I|HDC_uc010uff.2_Missense_Mutation_p.S560I	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	593					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTTCTGAGCACTCACTGGCAC	0.532													A	50534668	C	A	50534668	3	1	21	1	0	0	0	0	1	0	0	0	7015	565	20	5	214	5	HDC	15	50534668	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		50534668	51996724	38	1301											
MESP2	145873	broad.mit.edu	37	15	90321328	90321328	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:90321328G>A	uc002bon.3	+	1	957	c.957G>A	c.(955-957)tcG>tcA	p.S319S	MESP2_uc010uqa.2_Silent_p.S21S	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	319					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCTGTCTGTCGCTGGGAGCTC	0.597													A	90321328	G	A	90321328	2	1	21	1	0	0	0	0	0	0	0	1	9483	1074	38	1		1	MESP2	15	90321328	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	39786660	90321328	12210064	39	1302											
PLCG2	5336	broad.mit.edu	37	16	81944227	81944227	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr16:81944227C>T	uc002fgt.3	+	17	2014	c.1836C>T	c.(1834-1836)gcC>gcT	p.A612A	PLCG2_uc010chg.1_Silent_p.A612A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	612	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCATCTATGCCCTCATCCAGC	0.642													T	81944227	C	T	81944227	2	4	21	1	0	0	0	0	0	0	0	1	12036	610	22	3		3	PLCG2	16	81944227	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08		81944227	8410526	40	1303											
DNAH2	146754	broad.mit.edu	37	17	7668816	7668816	+	Silent	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:7668816C>T	uc002giu.1	+	19	3458	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1148	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAAGACAGGCCTGATCCACT	0.463													T	7668816	C	T	7668816	2	4	21	1	0	0	0	0	0	0	0	1	4602	726	26	3		3	DNAH2	17	7668816	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08		7668816	73526394	41	1304											
MYH4	4622	broad.mit.edu	37	17	10352234	10352234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:10352234G>A	uc002gmn.3	-	30	4423	c.4312C>T	c.(4312-4314)Cga>Tga	p.R1438*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1438					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCATTAGATCGTTCCACATCA	0.438													A	10352234	G	A	10352234	4	1	21	1	0	0	0	0	0	1	0	0	10037	1153	40	1	1547	1	MYH4	17	10352234	Nonsense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	2683418	10352234	70842976	42	1305											
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:62500099_62500102delACAG	uc010deh.2	-	4	484	c.441_splice	c.e4+1	p.S147_splice	DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								-	62500102	ACAG	-	62500099	8	5	21	1	0	1	0	1	0	0	1	0	4367	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-06-0142-01A-01D-1490-08	52147865	62500099	18695111	43	1306											
CPAMD8	27151	broad.mit.edu	37	19	17122460	17122460	+	Silent	SNP	G	G	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:17122460G>T	uc002nfb.3	-	3	548	c.516C>A	c.(514-516)ggC>ggA	p.G172G		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	125						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGCGCCCCGGCCGTCCACGG	0.672													T	17122460	G	T	17122460	2	4	21	1	0	0	0	0	0	0	0	1	3795	1190	42	5		5	CPAMD8	19	17122460	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08		17122460	42006523	44	1307											
ZNF626	199777	broad.mit.edu	37	19	20807475	20807475	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:20807475C>G	uc002npb.1	-	3	1358	c.1208G>C	c.(1207-1209)gGc>gCc	p.G403A	ZNF626_uc002npc.1_Missense_Mutation_p.G327A	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAAGCTTTGCCACATTCTTC	0.398													G	20807475	C	G	20807475	3	3	21	1	0	0	0	0	1	0	0	0	18047	739	26	5	382	5	ZNF626	19	20807475	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	3685015	20807475	38321508	45	1308											
PRODH2	58510	broad.mit.edu	37	19	36303630	36303630	+	Silent	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:36303630G>A	uc002obx.1	-	1	324	c.306C>T	c.(304-306)ggC>ggT	p.G102G		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	102					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAAGGCCCCGCCATCAAAGC	0.652													A	36303630	G	A	36303630	2	1	21	1	0	0	0	0	0	0	0	1	12549	1074	38	1		1	PRODH2	19	36303630	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	15496155	36303630	22825353	46	1309											
PSG3	5669	broad.mit.edu	37	19	43376102	43376102	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:43376102C>T	uc002ovd.1	-	2	664	c.526G>A	c.(526-528)Gca>Aca	p.A176T	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.A176T|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.A176T|PSG3_uc002ovb.3_Missense_Mutation_p.A176T	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	176	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.A176T(1)|p.D175D(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGGTAGCTTGCGTCTGGAGTC	0.527													T	43376102	C	T	43376102	3	4	21	1	0	0	0	0	1	0	0	0	12656	768	27	1		1	PSG3	19	43376102	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	7072472	43376102	15752881	47	1310											
ZNF8	7554	broad.mit.edu	37	19	58806753	58806753	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:58806753G>A	uc002qry.1	+	3	1709	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		CTCTGCAGGCGGAGCAAAGGC	0.557													A	58806753	G	A	58806753	3	1	21	1	0	0	0	0	1	0	0	0	18164	1117	39	2	1593	2	ZNF8	19	58806753	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	15430651	58806753	322230	48	1311											
GTSF1L	149699	broad.mit.edu	37	20	42355070	42355070	+	Missense_Mutation	SNP	C	C	T	rs143516837	byFrequency	TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:42355070C>T	uc002xld.3	-	0	573	c.265G>A	c.(265-267)Gat>Aat	p.D89N	GTSF1L_uc002xlc.3_Missense_Mutation_p.D89N	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	89							metal ion binding	p.D89G(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGGTGTCATCGTTCTGCTCT	0.517													T	42355070	C	T	42355070	3	4	21	1	0	0	0	0	1	0	0	0	6887	884	31	2	185	2	GTSF1L	20	42355070	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		42355070	20670450	49	1312											
COL6A2	1292	broad.mit.edu	37	21	47537831	47537831	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr21:47537831G>A	uc002zia.1	+	11	1179	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	COL6A2_uc002zhz.1_Missense_Mutation_p.R366Q|COL6A2_uc002zhy.1_Missense_Mutation_p.R366Q	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	366	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGGGGAGCGAGGAGACCAA	0.682													A	47537831	G	A	47537831	3	1	21	1	0	0	0	0	1	0	0	0	3700	1058	37	2	1139	2	COL6A2	21	47537831	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		47537831	592064	50	1313											
EMID1	129080	broad.mit.edu	37	22	29621149	29621149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr22:29621149C>T	uc003aem.3	+	3	422	c.347C>T	c.(346-348)cCc>cTc	p.P116L	EMID1_uc003aen.3_Missense_Mutation_p.P114L	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	114						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TCCTTGGAGCCCATGTGGTCG	0.637													T	29621149	C	T	29621149	3	4	21	1	0	0	0	0	1	0	0	0	5091	623	22	3	361	3	EMID1	22	29621149	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		29621149	21683417	51	1314											
SFI1	9814	broad.mit.edu	37	22	31985517	31985517	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr22:31985517C>T	uc003ale.3	+	14	1891	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	SFI1_uc003ald.1_Missense_Mutation_p.R476C|SFI1_uc003alf.3_Missense_Mutation_p.R469C|SFI1_uc003alg.3_Missense_Mutation_p.R418C|SFI1_uc011alp.2_Missense_Mutation_p.R418C|SFI1_uc011alq.2_Missense_Mutation_p.R445C|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	500					G2/M transition of mitotic cell cycle	centriole|cytosol		p.R500H(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGGCGATGGCGCCACCAGGA	0.532													T	31985517	C	T	31985517	3	4	21	1	0	0	0	0	1	0	0	0	14156	768	27	1	1552	1	SFI1	22	31985517	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	2364368	31985517	19319049	52	1315											
MTMR8	55613	broad.mit.edu	37	X	63569901	63569901	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chrX:63569901A>C	uc004dvs.3	-	4	608	c.518T>G	c.(517-519)tTg>tGg	p.L173W	MTMR8_uc011mou.2_Missense_Mutation_p.L173W	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	173	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CACCGTTCCCAAGGTAACAGA	0.348													C	63569901	A	C	63569901	3	2	21	1	0	0	0	0	1	0	0	0	9949	131	5	5	1636	5	MTMR8	23	63569901	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08		63569901	91700659	53	1316											
CAMTA1	23261	broad.mit.edu	37	1	7798426	7798426	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:7798426C>T	uc001aoi.3	+	15	4273	c.4066C>T	c.(4066-4068)Cgg>Tgg	p.R1356W	CAMTA1_uc010nzv.1_Missense_Mutation_p.R443W|CAMTA1_uc001aok.4_Missense_Mutation_p.R399W|CAMTA1_uc001aoj.3_Missense_Mutation_p.R312W	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGTGCGTCCACGGGAACCAAT	0.512			T	WWTR1	epitheliod hemangioendothelioma								T	7798426	C	T	7798426	3	4	22	1	0	0	0	0	1	0	0	0	2613	527	19	1	4128	1	CAMTA1	1	7798426	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		7798426	241452195	1	1317											
PADI3	51702	broad.mit.edu	37	1	17575699	17575699	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:17575699G>A	uc001bai.3	+	0	107	c.67G>A	c.(67-69)Gtg>Atg	p.V23M		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	23					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGCTGGCGTGGAGACCCT	0.617													A	17575699	G	A	17575699	3	1	22	1	0	0	0	0	1	0	0	0	11379	1145	40	1	69	1	PADI3	1	17575699	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9777273	17575699	231674922	2	1318											
GRHL3	57822	broad.mit.edu	37	1	24663202	24663202	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:24663202C>T	uc021oiw.1	+	3	727	c.497C>T	c.(496-498)cCc>cTc	p.P166L	GRHL3_uc001bix.3_Missense_Mutation_p.P166L|GRHL3_uc021oix.1_Missense_Mutation_p.P120L|GRHL3_uc001biy.3_Missense_Mutation_p.P171L|GRHL3_uc001biz.3_Missense_Mutation_p.P73L	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	166					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TACCTGTTACCCACCACTGAT	0.602													T	24663202	C	T	24663202	3	4	22	1	0	0	0	0	1	0	0	0	6765	623	22	3	547	3	GRHL3	1	24663202	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	7087503	24663202	224587419	3	1319											
MCOLN3	55283	broad.mit.edu	37	1	85499910	85499910	+	Missense_Mutation	SNP	C	C	T	rs144793042	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:85499910C>T	uc001dkp.3	-	3	568	c.421G>A	c.(421-423)Gtt>Att	p.V141I	MCOLN3_uc001dkq.3_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.3_Missense_Mutation_p.V141I|MCOLN3_uc001dks.4_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	141						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGATTCCCAACGGAGACATTG	0.468													T	85499910	C	T	85499910	3	4	22	1	0	0	0	0	1	0	0	0	9397	536	19	1	1280	1	MCOLN3	1	85499910	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	60836708	85499910	163750711	4	1320											
RGL1	23179	broad.mit.edu	37	1	183895313	183895313	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:183895313A>T	uc001gqm.3	+	18	2760	c.2299A>T	c.(2299-2301)Aaa>Taa	p.K767*	RGL1_uc010pog.2_Nonsense_Mutation_p.K730*|RGL1_uc010poh.2_Nonsense_Mutation_p.K730*|RGL1_uc001gqo.3_Nonsense_Mutation_p.K732*|RGL1_uc010poi.2_Nonsense_Mutation_p.K703*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	732					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.R766H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CATTTTGCGCAAAAAGAACTC	0.443													T	183895313	A	T	183895313	4	4	22	1	0	0	0	0	0	1	0	0	13276	131	5	5	2369	5	RGL1	1	183895313	Nonsense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	98395403	183895313	65355308	5	1321											
DISP1	84976	broad.mit.edu	37	1	223116326	223116326	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:223116326G>A	uc001hnu.2	+	3	487	c.161G>A	c.(160-162)gGa>gAa	p.G54E		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	54					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGTCCAAATGGATGCCTGCAA	0.507													A	223116326	G	A	223116326	3	1	22	1	0	0	0	0	1	0	0	0	4539	1174	41	3	163	3	DISP1	1	223116326	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	39221013	223116326	26134295	6	1322											
RYR2	6262	broad.mit.edu	37	1	237780709	237780709	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:237780709G>C	uc001hyl.1	+	37	5959	c.5839G>C	c.(5839-5841)Gtc>Ctc	p.V1947L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1947	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			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)			ATACAACGAAGTCATGCAAGC	0.448													C	237780709	G	C	237780709	3	2	22	1	0	0	0	0	1	0	0	0	13769	1029	36	5	5989	5	RYR2	1	237780709	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	14664383	237780709	11469912	7	1323											
RYR2	6262	broad.mit.edu	37	1	237863752	237863752	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:237863752G>A	uc001hyl.1	+	64	9472	c.9352G>A	c.(9352-9354)Gga>Aga	p.G3118R	RYR2_uc010pxz.1_Missense_Mutation_p.G73R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3118					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			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)			GCATCAGTTCGGAGAAGACCT	0.373													A	237863752	G	A	237863752	3	1	22	1	0	0	0	0	1	0	0	0	13769	1117	39	2	9610	2	RYR2	1	237863752	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	83043	237863752	11386869	8	1324											
C2orf78	388960	broad.mit.edu	37	2	74040759	74040759	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:74040759T>A	uc002sjr.1	+	1	374	c.253T>A	c.(253-255)Tct>Act	p.S85T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	85	Ser-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCCATCAGCCTCTGGCACCTC	0.527													A	74040759	T	A	74040759	3	1	22	1	0	0	0	0	1	0	0	0	2195	1551	54	5	259	5	C2orf78	2	74040759	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08		74040759	169158614	9	1325											
EDAR	10913	broad.mit.edu	37	2	109526984	109526984	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:109526984G>A	uc010fjn.3	-	8	1378	c.831C>T	c.(829-831)aaC>aaT	p.N277N	EDAR_uc010yws.2_Silent_p.N277N|EDAR_uc002teq.4_Silent_p.N245N	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	245					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACATCACCACGTTGTCTGCAG	0.552													A	109526984	G	A	109526984	2	1	22	1	0	0	0	0	0	0	0	1	4905	1136	40	1		1	EDAR	2	109526984	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	35486225	109526984	133672389	10	1326											
PCDP1	200373	broad.mit.edu	37	2	120385326	120385326	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:120385326C>T	uc002tmb.3	+	16	1868	c.756C>T	c.(754-756)ttC>ttT	p.F252F	PCDP1_uc010yyq.2_Silent_p.F382F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	538						cilium	calmodulin binding					Colorectal(110;0.196)					CCTTCGCTTTCCCAGACTGCA	0.557													T	120385326	C	T	120385326	2	4	22	1	0	0	0	0	0	0	0	1	11572	854	30	3		3	PCDP1	2	120385326	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	10858342	120385326	122814047	11	1327											
POTEE	445582	broad.mit.edu	37	2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:131976471G>A	uc002tsn.2	+	0	548	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	166							ATP binding										GGACACTGACGTGAACAAGAA	0.592													A	131976471	G	A	131976471	3	1	22	1	0	0	0	0	1	0	0	0	12264	1145	40	1	498	1	POTEE	2	131976471	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	11591145	131976471	111222902	12	1328											
THSD7B	80731	broad.mit.edu	37	2	137814211	137814211	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:137814211C>T	uc002tva.1	+	1	268	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTACGCTCGCGGTGAAGT	0.542													T	137814211	C	T	137814211	3	4	22	1	0	0	0	0	1	0	0	0	15877	884	31	2	274	2	THSD7B	2	137814211	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	5837740	137814211	105385162	13	1329											
XIRP2	129446	broad.mit.edu	37	2	168101563	168101563	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:168101563A>G	uc002udx.3	+	8	3750	c.3661A>G	c.(3661-3663)Aaa>Gaa	p.K1221E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K1046E|XIRP2_uc010fpq.3_Missense_Mutation_p.K999E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1046					actin cytoskeleton organization	cell junction	actin binding			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						GGAAGTTTTGAAAAAGATCAA	0.308													G	168101563	A	G	168101563	3	3	22	1	0	0	0	0	1	0	0	0	17427	247	9	4	3691	4	XIRP2	2	168101563	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	30287352	168101563	75097810	14	1330											
TTN	7273	broad.mit.edu	37	2	179469622	179469622	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:179469622C>T	uc021vsy.1	-	229	46715	c.46490G>A	c.(46489-46491)cGc>cAc	p.R15497H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9192H|TTN_uc021vta.1_Missense_Mutation_p.R9125H|TTN_uc021vtb.1_Missense_Mutation_p.R9000H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16424	Fibronectin type-III 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S15496T(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)			TGGGGATGGGCGGTCTGGAAA	0.418													T	179469622	C	T	179469622	3	4	22	1	0	0	0	0	1	0	0	0	16732	768	27	1	53827	1	TTN	2	179469622	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	11368059	179469622	63729751	15	1331											
UGT1A1	54579	broad.mit.edu	37	2	234621856	234621856	+	Silent	SNP	C	C	T	rs17874940		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:234621856C>T	uc002vuw.3	+	0	219	c.219C>T	c.(217-219)aaC>aaT	p.N73N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Silent_p.N73N	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	72					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAGAAGAGAACTTTTTCACCC	0.512													T	234621856	C	T	234621856	2	4	22	1	0	0	0	0	0	0	0	1	16941	564	20	3		3	UGT1A1	2	234621856	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	55152234	234621856	8577517	16	1332											
GRM7	2917	broad.mit.edu	37	3	6903093	6903093	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:6903093G>T	uc003bqm.2	+	0	292	c.18G>T	c.(16-18)aaG>aaT	p.K6N	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.K6N|GRM7_uc003bql.2_Missense_Mutation_p.K6N	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	6					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGCTGAGGAAGCTGCTCCGCG	0.721													T	6903093	G	T	6903093	3	4	22	1	0	0	0	0	1	0	0	0	6802	962	34	5	20	5	GRM7	3	6903093	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		6903093	191119337	17	1333											
PRKCD	5580	broad.mit.edu	37	3	53213676	53213676	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:53213676C>T	uc003dgl.3	+	3	552	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	PRKCD_uc003dgm.3_Missense_Mutation_p.R67C|PRKCD_uc003dgn.2_Missense_Mutation_p.R67C	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	67	C2.	Interaction with phosphotyrosine- containing peptide.			activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	p.R67C(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CTATGAGGGGCGCGTCATCCA	0.582													T	53213676	C	T	53213676	3	4	22	1	0	0	0	0	1	0	0	0	12509	768	27	1	205	1	PRKCD	3	53213676	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	46310583	53213676	144808754	18	1334											
ST6GAL1	6480	broad.mit.edu	37	3	186791960	186791960	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:186791960C>T	uc003frb.3	+	6	1451	c.818C>T	c.(817-819)cCg>cTg	p.P273L	ST6GAL1_uc003frc.3_Missense_Mutation_p.P42L|ST6GAL1_uc003frd.3_Missense_Mutation_p.P273L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	273					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P273L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TACCAGAATCCGGATTATAAT	0.488													T	186791960	C	T	186791960	3	4	22	1	0	0	0	0	1	0	0	0	15220	652	23	2	832	2	ST6GAL1	3	186791960	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	133578284	186791960	11230470	19	1335											
UGT2A1	10941	broad.mit.edu	37	4	70455275	70455275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:70455275G>A	uc011caq.2	-	6	2013	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	UGT2A1_uc010ihu.3_Missense_Mutation_p.R467C|UGT2A1_uc003hem.4_Missense_Mutation_p.R467C|UGT2A1_uc010ihs.3_Missense_Mutation_p.R476C|UGT2A1_uc021xox.1_Missense_Mutation_p.R432C|UGT2A1_uc010iht.3_Missense_Mutation_p.R423C	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	467					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCTTTGTGGCGCATGACAAAC	0.478													A	70455275	G	A	70455275	3	1	22	1	0	0	0	0	1	0	0	0	16950	1087	38	1	188	1	UGT2A1	4	70455275	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		70455275	120699001	20	1336											
FRAS1	80144	broad.mit.edu	37	4	79362349	79362349	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:79362349C>A	uc003hlb.2	+	40	6003	c.5563C>A	c.(5563-5565)Cac>Aac	p.H1855N	FRAS1_uc003hkw.3_Missense_Mutation_p.H1855N|FRAS1_uc010ijj.2_Missense_Mutation_p.H275N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1854					cell communication	integral to membrane|plasma membrane	metal ion binding			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						ACTCTCATTTCACCATTTTTT	0.418													A	79362349	C	A	79362349	3	1	22	1	0	0	0	0	1	0	0	0	6042	826	29	5	5725	5	FRAS1	4	79362349	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	8907074	79362349	111791927	21	1337											
OSTC	58505	broad.mit.edu	37	4	109571929	109571929	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:109571929T>C	uc003hzb.1	+	0	189	c.118T>C	c.(118-120)Tct>Cct	p.S40P		NM_021227	NP_067050	Q9NRP0	OSTC_HUMAN	Homo sapiens oligosaccharyltransferase complex subunit (OSTC), mRNA.	40						integral to membrane|oligosaccharyltransferase complex				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GGTGGTGGTGTCTTACTTCCT	0.612													C	109571929	T	C	109571929	3	2	22	1	0	0	0	0	1	0	0	0	11296	1667	58	4	120	4	OSTC	4	109571929	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08	30209580	109571929	81582347	22	1338											
DCHS2	54798	broad.mit.edu	37	4	155226289	155226289	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:155226289G>A	uc003inw.2	-	15	3990	c.3990C>T	c.(3988-3990)acC>acT	p.T1330T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1330	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1329K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTCAAGTATGGTGGTTGTCA	0.343													A	155226289	G	A	155226289	2	1	22	1	0	0	0	0	0	0	0	1	4288	1335	47	3		3	DCHS2	4	155226289	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	45654360	155226289	35927987	23	1339											
TKTL2	84076	broad.mit.edu	37	4	164393803	164393803	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:164393803G>A	uc003iqp.4	-	0	1245	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	362						cytoplasm	metal ion binding|transketolase activity	p.R362H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTATGAAACGCTCAGGGTGT	0.453													A	164393803	G	A	164393803	3	1	22	1	0	0	0	0	1	0	0	0	15933	1087	38	1	800	1	TKTL2	4	164393803	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9167514	164393803	26760473	24	1340											
IRF2	3660	broad.mit.edu	37	4	185329382	185329382	+	Silent	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:185329382A>G	uc003iwf.4	-	5	659	c.459T>C	c.(457-459)gaT>gaC	p.D153D		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	153					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGAGAAAGATCACTTACTC	0.388													G	185329382	A	G	185329382	2	3	22	1	0	0	0	0	0	0	0	1	7828	330	12	4		4	IRF2	4	185329382	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	20935579	185329382	5824894	25	1341											
TERT	7015	broad.mit.edu	37	5	1280302	1280302	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:1280302C>A	uc003jcb.1	-	3	1979	c.1921G>T	c.(1921-1923)Gga>Tga	p.G641*	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Nonsense_Mutation_p.G641*|TERT_uc003jca.1_Nonsense_Mutation_p.G641*|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Nonsense_Mutation_p.G93*	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	641	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTTCTGGCTCCCACGACGTAG	0.557									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				A	1280302	C	A	1280302	4	1	22	1	0	0	0	0	0	1	0	0	15761	632	22	5	1529	5	TERT	5	1280302	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		1280302	179634958	26	1342											
SLC6A3	6531	broad.mit.edu	37	5	1422128	1422128	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:1422128G>A	uc003jck.3	-	5	780	c.654_splice	c.e5-1	p.E218_splice		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	218					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCACGCCACGTCTGCAGAGG	0.667													A	1422128	G	A	1422128	3	1	22	1	0	0	0	0	1	0	0	0	14685	1159	40	1	1251	1	SLC6A3	5	1422128	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	141826	1422128	179493132	27	1343											
PCDHAC2	56147	broad.mit.edu	37	5	140166017	140166017	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:140166017G>A	uc003lhb.2	+	0	142	c.142G>A	c.(142-144)Gtt>Att	p.V48I	PCDHAC2_uc003lha.2_Missense_Mutation_p.V48I|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V48I	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.V48I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGCCGCGTTGCTCAGGA	0.627													A	140166017	G	A	140166017	3	1	22	1	0	0	0	0	1	0	0	0	11533	1145	40	1		1	PCDHAC2	5	140166017	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	138743889	140166017	40749243	28	1344											
FAT2	2196	broad.mit.edu	37	5	150924338	150924338	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:150924338C>T	uc003lue.4	-	8	6363	c.6350G>A	c.(6349-6351)cGa>cAa	p.R2117Q		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2117	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R2117*(1)		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)			GGGGTCAATTCGGAAATATGT	0.433													T	150924338	C	T	150924338	3	4	22	1	0	0	0	0	1	0	0	0	5690	884	31	2	6759	2	FAT2	5	150924338	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	10758321	150924338	29990922	29	1345											
GABRA1	2554	broad.mit.edu	37	5	161318009	161318009	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:161318009T>C	uc010jiw.3	+	8	1277	c.809T>C	c.(808-810)gTc>gCc	p.V270A	GABRA1_uc010jix.3_Missense_Mutation_p.V270A|GABRA1_uc010jiy.3_Missense_Mutation_p.V270A|GABRA1_uc003lyx.4_Missense_Mutation_p.V270A|GABRA1_uc010jiz.3_Missense_Mutation_p.V270A|GABRA1_uc010jja.3_Missense_Mutation_p.V270A|GABRA1_uc010jjb.3_Missense_Mutation_p.V270A	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	270					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			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)	CTCTCACAAGTCTCCTTCTGG	0.408													C	161318009	T	C	161318009	3	2	22	1	0	0	0	0	1	0	0	0	6160	1667	58	4	835	4	GABRA1	5	161318009	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08	10393671	161318009	19597251	30	1346											
TAP1	6890	broad.mit.edu	37	6	32815851	32815851	+	Missense_Mutation	SNP	G	G	A	rs149070070	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:32815851G>A	uc003ocg.3	-	7	1920	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	TAP1_uc011dqi.2_Missense_Mutation_p.R328C	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	589	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TCGCCAGGGCGTAGGGTGAAT	0.582													A	32815851	G	A	32815851	3	1	22	1	0	0	0	0	1	0	0	0	15547	1145	40	1	677	1	TAP1	6	32815851	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		32815851	138299216	31	1347											
RUNX2	860	broad.mit.edu	37	6	45514681	45514681	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:45514681C>T	uc011dvx.2	+	8	1415	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	RUNX2_uc011dvy.2_Missense_Mutation_p.P380L|RUNX2_uc003oxt.3_Missense_Mutation_p.P388L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	402	Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACTTACACCCCGCCAGTCACC	0.577													T	45514681	C	T	45514681	3	4	22	1	0	0	0	0	1	0	0	0	13748	652	23	2	1251	2	RUNX2	6	45514681	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	12698830	45514681	125600386	32	1348											
ZNF292	23036	broad.mit.edu	37	6	87969728	87969728	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:87969728A>G	uc003plm.4	+	7	6422	c.6381A>G	c.(6379-6381)atA>atG	p.I2127M		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTTACGATACAGCAAAACT	0.438													G	87969728	A	G	87969728	3	3	22	1	0	0	0	0	1	0	0	0	17823	381	14	4	6411	4	ZNF292	6	87969728	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	42455047	87969728	83145339	33	1349											
LAMA2	3908	broad.mit.edu	37	6	129371228	129371228	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:129371228C>T	uc021zfb.1	+	1	383	c.278C>T	c.(277-279)cCa>cTa	p.P93L	LAMA2_uc003qbn.3_Missense_Mutation_p.P93L|LAMA2_uc003qbo.3_Missense_Mutation_p.P93L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	93	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.P93T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCAGCAATCCAAACCGTATG	0.438													T	129371228	C	T	129371228	3	4	22	1	0	0	0	0	1	0	0	0	8606	594	21	3	284	3	LAMA2	6	129371228	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	41401500	129371228	41743839	34	1350											
GRM1	2911	broad.mit.edu	37	6	146720521	146720521	+	Silent	SNP	C	C	T	rs145874853	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:146720521C>T	uc010khw.1	+	7	2816	c.2346C>T	c.(2344-2346)aaC>aaT	p.N782N	GRM1_uc010khv.1_Silent_p.N782N|GRM1_uc003qll.2_Silent_p.N782N|GRM1_uc011edz.1_Silent_p.N782N|GRM1_uc011eea.1_Silent_p.N782N	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	782					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.N782I(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)	CCAACTTCAACGAGGCCAAAT	0.502													T	146720521	C	T	146720521	2	4	22	1	0	0	0	0	0	0	0	1	6796	535	19	1		1	GRM1	6	146720521	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	17349293	146720521	24394546	35	1351											
GRM1	2911	broad.mit.edu	37	6	146755247	146755247	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:146755247G>A	uc010khw.1	+	8	3370	c.2900G>A	c.(2899-2901)cGc>cAc	p.R967H	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	967					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R967H(2)		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)	CAGCCGATTCGCTTTAGCCCG	0.602													A	146755247	G	A	146755247	3	1	22	1	0	0	0	0	1	0	0	0	6796	1087	38	1	2995	1	GRM1	6	146755247	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	34726	146755247	24359820	36	1352											
C6orf211	79624	broad.mit.edu	37	6	151789616	151789616	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:151789616C>G	uc003qok.1	+	4	956	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	C6orf211_uc011ees.1_Missense_Mutation_p.L114V	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	233							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTGGTCATTGCTTAGCAATTG	0.328													G	151789616	C	G	151789616	3	3	22	1	0	0	0	0	1	0	0	0	2354	797	28	5	715	5	C6orf211	6	151789616	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	5034369	151789616	19325451	37	1353											
MYCT1	80177	broad.mit.edu	37	6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:153043291G>A	uc003qpc.4	+	1	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	204						nucleus		p.R204H(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532													A	153043291	G	A	153043291	3	1	22	1	0	0	0	0	1	0	0	0	10022	1145	40	1	617	1	MYCT1	6	153043291	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	1253675	153043291	18071776	38	1354											
HDAC9	9734	broad.mit.edu	37	7	18788727	18788727	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:18788727G>A	uc003sui.3	+	12	2050	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q	HDAC9_uc003sue.3_Missense_Mutation_p.R667Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R667Q|HDAC9_uc003suh.3_Missense_Mutation_p.R667Q|HDAC9_uc003suj.3_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	667	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	p.R670L(3)		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)	ATCTGGTCACGACTGCAAGAA	0.438													A	18788727	G	A	18788727	3	1	22	1	0	0	0	0	1	0	0	0	7014	1058	37	2	2110	2	HDAC9	7	18788727	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		18788727	140349936	39	1355											
ZPBP	11055	broad.mit.edu	37	7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:50097612G>A	uc003tou.3	-	3	530	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ZPBP_uc010kyw.3_Missense_Mutation_p.R153C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	154					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294													A	50097612	G	A	50097612	3	1	22	1	0	0	0	0	1	0	0	0	18216	1145	40	1	615	1	ZPBP	7	50097612	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	31308885	50097612	109041051	40	1356											
POM121L12	285877	broad.mit.edu	37	7	53103630	53103630	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:53103630C>T	uc003tpz.3	+	0	282	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	89								p.P89P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGCCAAGCCGCAGCGGGTG	0.692													T	53103630	C	T	53103630	3	4	22	1	0	0	0	0	1	0	0	0	12241	652	23	2	268	2	POM121L12	7	53103630	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	3006018	53103630	106035033	41	1357											
SEMA3C	10512	broad.mit.edu	37	7	80387693	80387693	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:80387693C>T	uc011kgw.2	-	14	1730	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	SEMA3C_uc003uhj.3_Missense_Mutation_p.A533T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	533					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATCCCAGGCGCAATAAGGG	0.537													T	80387693	C	T	80387693	3	4	22	1	0	0	0	0	1	0	0	0	14026	768	27	1	674	1	SEMA3C	7	80387693	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	27284063	80387693	78750970	42	1358											
PDK4	5166	broad.mit.edu	37	7	95216404	95216404	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:95216404C>T	uc003uoa.3	-	9	1333	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	PDK4_uc003unz.3_Missense_Mutation_p.R126H	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	338	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGCATACAGACGAGAAATTGG	0.378													T	95216404	C	T	95216404	3	4	22	1	0	0	0	0	1	0	0	0	11678	536	19	1	230	1	PDK4	7	95216404	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	14828711	95216404	63922259	43	1359											
KEL	3792	broad.mit.edu	37	7	142650962	142650962	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:142650962C>T	uc003wcb.3	-	8	1216	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	336					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)					TCATGGACCACGAGGGACTGA	0.537													T	142650962	C	T	142650962	3	4	22	1	0	0	0	0	1	0	0	0	8142	536	19	1	1236	1	KEL	7	142650962	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	47434558	142650962	16487701	44	1360											
TRPA1	8989	broad.mit.edu	37	8	72938268	72938268	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr8:72938268C>A	uc003xza.3	-	24	3153	c.2978G>T	c.(2977-2979)tGg>tTg	p.W993L	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	993						integral to plasma membrane		p.W993S(2)		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)	GCGTAGAAACCAAAGTGGCAG	0.363													A	72938268	C	A	72938268	3	1	22	1	0	0	0	0	1	0	0	0	16574	595	21	5	393	5	TRPA1	8	72938268	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		72938268	73425754	45	1361											
DOCK8	81704	broad.mit.edu	37	9	286581	286581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr9:286581G>A	uc003zgf.2	+	2	389	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	DOCK8_uc011lls.1_Missense_Mutation_p.V93M|DOCK8_uc022bcu.1_Missense_Mutation_p.V25M|DOCK8_uc010mgv.3_Missense_Mutation_p.V25M|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_Missense_Mutation_p.V25M|DOCK8_uc003zgg.3_Missense_Mutation_p.V25M|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	93					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V25M(1)|p.V25L(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGACTTGGACGTGGTGTTCAC	0.498													A	286581	G	A	286581	3	1	22	1	0	0	0	0	1	0	0	0	4693	1145	40	1	287	1	DOCK8	9	286581	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		286581	140926850	46	1362											
GLIS3	169792	broad.mit.edu	37	9	4286000	4286000	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr9:4286000G>A	uc003zhx.1	-						GLIS3_uc003zic.1_Intron|GLIS3_uc003zie.1_Intron|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_Intron|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_Intron|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Silent_p.N142N	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAAAAAAATCGTTTCCATTTT	0.393													A	4286000	G	A	4286000	2	1	22	1	0	0	0	0	0	0	0	1	6447	1160	40	1		1	GLIS3	9	4286000	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	3999419	4286000	136927431	47	1363											
PCDH15	65217	broad.mit.edu	37	10	55755492	55755492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr10:55755492G>A	uc010qhy.1	-	21	3195	c.2800C>T	c.(2800-2802)Cga>Tga	p.R934*	PCDH15_uc010qhq.2_Nonsense_Mutation_p.R934*|PCDH15_uc010qhr.2_Nonsense_Mutation_p.R929*|PCDH15_uc021pqv.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqw.1_Nonsense_Mutation_p.R941*|PCDH15_uc010qht.2_Nonsense_Mutation_p.R936*|PCDH15_uc021pqx.1_Nonsense_Mutation_p.R929*|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqz.1_Nonsense_Mutation_p.R907*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R892*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R858*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jju.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jjw.3_Nonsense_Mutation_p.R929*	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	929	Cadherin 9.				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.G933G(1)		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)				TTGTATATTCGTTTACTAAAG	0.408										HNSCC(58;0.16)			A	55755492	G	A	55755492	4	1	22	1	0	0	0	0	0	1	0	0	11511	1153	40	1	4753	1	PCDH15	10	55755492	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		55755492	79779255	48	1364											
STAMBPL1	57559	broad.mit.edu	37	10	90665247	90665247	+	Silent	SNP	A	A	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr10:90665247A>T	uc001kfk.3	+	2	501	c.78A>T	c.(76-78)ccA>ccT	p.P26P	STAMBPL1_uc010qmx.1_Silent_p.P26P|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Silent_p.P26P|STAMBPL1_uc001kfm.3_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	26							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CCCTAAGCCCAGAAGAGCGAG	0.418													T	90665247	A	T	90665247	2	4	22	1	0	0	0	0	0	0	0	1	15250	175	7	5		5	STAMBPL1	10	90665247	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	34909755	90665247	44869500	49	1365											
OR51S1	119692	broad.mit.edu	37	11	4870156	4870156	+	Missense_Mutation	SNP	C	C	T	rs143553379		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:4870156C>T	uc010qyo.2	-	0	283	c.283G>A	c.(283-285)Gct>Act	p.A95T		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGCACCAGCAAGGGCGATG	0.537													T	4870156	C	T	4870156	3	4	22	1	0	0	0	0	1	0	0	0	11105	710	25	3	691	3	OR51S1	11	4870156	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		4870156	130136360	50	1366											
C11orf16	56673	broad.mit.edu	37	11	8953775	8953775	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:8953775G>A	uc001mhb.4	-	1	205	c.81C>T	c.(79-81)gaC>gaT	p.D27D	C11orf16_uc001mhc.4_Silent_p.D27D	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	27										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GAGCAGCACCGTCCCAGCCAG	0.622													A	8953775	G	A	8953775	2	1	22	1	0	0	0	0	0	0	0	1	1631	1136	40	1		1	C11orf16	11	8953775	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	4083619	8953775	126052741	51	1367											
FOLH1	2346	broad.mit.edu	37	11	49175930	49175930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:49175930G>A	uc001ngy.3	-	15	1999	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	FOLH1_uc001ngx.3_Nonsense_Mutation_p.R12*|FOLH1_uc009yly.3_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.3_Nonsense_Mutation_p.R565*|FOLH1_uc001ngz.3_Nonsense_Mutation_p.R580*|FOLH1_uc009yma.3_Nonsense_Mutation_p.R272*	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	580	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCCCTCCTCGAACCTGGGCC	0.413													A	49175930	G	A	49175930	4	1	22	1	0	0	0	0	0	1	0	0	5979	1066	37	2	530	2	FOLH1	11	49175930	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	40222155	49175930	85830586	52	1368											
OR5D18	219438	broad.mit.edu	37	11	55587854	55587854	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:55587854C>A	uc010rin.2	+	0	749	c.749C>A	c.(748-750)aCc>aAc	p.T250N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I249I(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)				ACTGCCATCACCATCTTCCAT	0.517													A	55587854	C	A	55587854	3	1	22	1	0	0	0	0	1	0	0	0	11157	507	18	5	751	5	OR5D18	11	55587854	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	6411924	55587854	79418662	53	1369											
MS4A7	58475	broad.mit.edu	37	11	60150731	60150731	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:60150731C>T	uc001npe.3	+	1	262	c.117C>T	c.(115-117)aaC>aaT	p.N39N	MS4A7_uc001npf.3_Silent_p.N39N|MS4A7_uc001npg.3_Silent_p.N39N|MS4A7_uc001nph.3_Silent_p.N39N|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	39						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACCTGCAGAACGGGCTGCCAA	0.438													T	60150731	C	T	60150731	2	4	22	1	0	0	0	0	0	0	0	1	9866	535	19	1		1	MS4A7	11	60150731	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	4562877	60150731	74855785	54	1370											
FAU	2197	broad.mit.edu	37	11	64889007	64889007	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:64889007A>G	uc001ocx.3	-	2	304	c.185T>C	c.(184-186)cTg>cCg	p.L62P	MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.	62										NS(3)|kidney(1)|large_intestine(2)	6						CAGGGTAGTCAGGGCCTCCAC	0.612													G	64889007	A	G	64889007	3	3	22	1	0	0	0	0	1	0	0	0	5694	188	7	4	228	4	FAU	11	64889007	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	4738276	64889007	70117509	55	1371											
FOLH1B	219595	broad.mit.edu	37	11	89424164	89424164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:89424164C>T	uc001pda.3	+	10	1340	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	272					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.V271F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGCCCAGGTTCGAGGAGGGAT	0.408													T	89424164	C	T	89424164	4	4	22	1	0	0	0	0	0	1	0	0	5980	876	31	2	848	2	FOLH1B	11	89424164	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	24535157	89424164	45582352	56	1372											
MPZL2	10205	broad.mit.edu	37	11	118130818	118130818	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:118130818G>A	uc001psn.3	-	3	918	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	MPZL2_uc001pso.3_Missense_Mutation_p.R179W	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	179					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	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;3.04e-05)		CGCTTTTTCCGGTAATGCTGG	0.478													A	118130818	G	A	118130818	3	1	22	1	0	0	0	0	1	0	0	0	9750	1115	39	2	120	2	MPZL2	11	118130818	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	28706654	118130818	16875698	57	1373											
CHEK1	1111	broad.mit.edu	37	11	125503112	125503112	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:125503112G>A	uc009zbo.3	+	5	1376	c.479G>A	c.(478-480)cGt>cAt	p.R160H	CHEK1_uc010sbi.2_Missense_Mutation_p.R160H|CHEK1_uc010sbh.2_Missense_Mutation_p.R176H|CHEK1_uc001qcf.4_Missense_Mutation_p.R160H|CHEK1_uc009zbp.3_Missense_Mutation_p.R160H|CHEK1_uc001qcg.4_Missense_Mutation_p.R160H	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	160	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.R160H(2)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TATAATAATCGTGAGCGTTTG	0.363								Other conserved DNA damage response genes					A	125503112	G	A	125503112	3	1	22	1	0	0	0	0	1	0	0	0	3334	1145	40	1	497	1	CHEK1	11	125503112	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	7372294	125503112	9503404	58	1374											
TEAD4	7004	broad.mit.edu	37	12	3128315	3128315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:3128315C>T	uc010sej.2	+	7	854	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	TEAD4_uc010sek.2_Nonsense_Mutation_p.Q145*|TEAD4_uc001qln.3_Nonsense_Mutation_p.Q59*	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	188					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTATGCTGTCCAGCCTCCGCT	0.677													T	3128315	C	T	3128315	4	4	22	1	0	0	0	0	0	1	0	0	15738	595	21	3	584	3	TEAD4	12	3128315	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		3128315	130723580	59	1375											
TAS2R30	259293	broad.mit.edu	37	12	11286159	11286159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:11286159G>A	uc009zhs.1	-	0	685	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GTCACAGTTTGCAAAGCTTTT	0.418													A	11286159	G	A	11286159	4	1	22	1	0	0	0	0	0	1	0	0	15570	1328	46	3	278	3	TAS2R30	12	11286159	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	8157844	11286159	122565736	60	1376											
PIK3C2G	5288	broad.mit.edu	37	12	18658236	18658236	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:18658236A>G	uc001rdt.3	+	22	3157	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.N1055S|PIK3C2G_uc010sic.2_Missense_Mutation_p.N833S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1014	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.N1014S(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCCTTGAGGAACTTTTTCTAC	0.378													G	18658236	A	G	18658236	3	3	22	1	0	0	0	0	1	0	0	0	11911	43	2	4	3127	4	PIK3C2G	12	18658236	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	7372077	18658236	115193659	61	1377											
PPFIBP1	8496	broad.mit.edu	37	12	27841240	27841240	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:27841240G>A	uc001ric.2	+	24	2775	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A631T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A794T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A769T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A647T|PPFIBP1_uc001rif.2_Missense_Mutation_p.A307T|TRNA_Lys_uc021qwh.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	800					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAATACCATCGCCCCATCAGA	0.468													A	27841240	G	A	27841240	3	1	22	1	0	0	0	0	1	0	0	0	12313	1087	38	1	2516	1	PPFIBP1	12	27841240	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9183004	27841240	106010655	62	1378											
SCN8A	6334	broad.mit.edu	37	12	52200784	52200784	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:52200784C>T	uc001ryw.3	+	26	5692	c.5514C>T	c.(5512-5514)agC>agT	p.S1838S	SCN8A_uc010snl.2_Silent_p.S1797S	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1838					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAATGGTGAGCGGGGATCGCA	0.562													T	52200784	C	T	52200784	2	4	22	1	0	0	0	0	0	0	0	1	13924	767	27	1		1	SCN8A	12	52200784	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	24359544	52200784	81651111	63	1379											
LUM	4060	broad.mit.edu	37	12	91502375	91502375	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:91502375G>T	uc001tbm.3	-	1	771	c.382C>A	c.(382-384)Ctg>Atg	p.L128M		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	128					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.L128M(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GACTCTGTCAGGTTGTTGTGG	0.418													T	91502375	G	T	91502375	3	4	22	1	0	0	0	0	1	0	0	0	9085	991	35	5	642	5	LUM	12	91502375	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	39301591	91502375	42349520	64	1380											
SDS	10993	broad.mit.edu	37	12	113835119	113835119	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:113835119G>A	uc001tvg.3	-	5	626	c.504C>T	c.(502-504)ggC>ggT	p.G168G	SDS_uc001tvh.1_Silent_p.G168G	NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	168					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	p.G168G(2)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGCCCCCGCCGCCCACTGACA	0.662													A	113835119	G	A	113835119	2	1	22	1	0	0	0	0	0	0	0	1	13975	1074	38	1		1	SDS	12	113835119	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	22332744	113835119	20016776	65	1381											
FAM123A	219287	broad.mit.edu	37	13	25745233	25745233	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:25745233G>A	uc001uqb.3	-	0	625	c.525C>T	c.(523-525)aaC>aaT	p.N175N	FAM123A_uc001uqa.3_Silent_p.N175N|FAM123A_uc001uqc.3_Silent_p.N175N	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	175										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCCCTTGCCGTTTTCCGAGC	0.677													A	25745233	G	A	25745233	2	1	22	1	0	0	0	0	0	0	0	1	5422	1136	40	1		1	FAM123A	13	25745233	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08		25745233	89424645	66	1382											
PAN3	255967	broad.mit.edu	37	13	28840979	28840979	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:28840979A>T	uc001urz.3	+	9	1691	c.1539A>T	c.(1537-1539)aaA>aaT	p.K513N	PAN3_uc010tdo.1_Missense_Mutation_p.K513N|PAN3_uc001ury.3_Missense_Mutation_p.K201N|PAN3_uc001urx.3_Missense_Mutation_p.K313N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	513	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TAAACAGCAAAGATGATCTGC	0.373													T	28840979	A	T	28840979	3	4	22	1	0	0	0	0	1	0	0	0	11415	69	3	5	1577	5	PAN3	13	28840979	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	3095746	28840979	86328899	67	1383											
STARD13	90627	broad.mit.edu	37	13	33704189	33704189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:33704189G>A	uc001uuw.3	-	4	751	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	STARD13_uc001uuu.3_Missense_Mutation_p.R201C|STARD13_uc001uuv.3_Missense_Mutation_p.R91C|STARD13_uc001uux.3_Missense_Mutation_p.R174C|STARD13_uc010abh.1_Missense_Mutation_p.R194C|STARD13_uc021rhz.1_Missense_Mutation_p.R201C|STARD13_uc021ria.1_Missense_Mutation_p.R91C	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	209					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCTGGCTGCGACTGTCGCTG	0.627													A	33704189	G	A	33704189	3	1	22	1	0	0	0	0	1	0	0	0	15255	1058	37	2	2756	2	STARD13	13	33704189	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	4863210	33704189	81465689	68	1384											
LRFN5	145581	broad.mit.edu	37	14	42356674	42356674	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:42356674T>A	uc001wvm.3	+	2	2044	c.846T>A	c.(844-846)ttT>ttA	p.F282L	LRFN5_uc010ana.3_Missense_Mutation_p.F282L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	282	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGAAGAGTTTTTGTGTGAGC	0.502										HNSCC(30;0.082)			A	42356674	T	A	42356674	3	1	22	1	0	0	0	0	1	0	0	0	8941	1838	64	5	848	5	LRFN5	14	42356674	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08		42356674	64992866	69	1385											
PPP2R5E	5529	broad.mit.edu	37	14	63858710	63858710	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:63858710C>A	uc001xgd.1	-	8	1473	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	PPP2R5E_uc010tsf.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsg.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsh.1_Missense_Mutation_p.D295Y|PPP2R5E_uc001xge.2_Missense_Mutation_p.D295Y|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	295					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGTGAAGGATCTTTCTCCAGA	0.294													A	63858710	C	A	63858710	3	1	22	1	0	0	0	0	1	0	0	0	12396	913	32	5	544	5	PPP2R5E	14	63858710	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	21502036	63858710	43490830	70	1386											
PAPLN	89932	broad.mit.edu	37	14	73717702	73717702	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:73717702G>A	uc010ttx.2	+	5	716	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	PAPLN_uc001xnw.4_Missense_Mutation_p.V185I|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.V185I	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	185						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTGCTACCCCGTCGCAGGCAC	0.632													A	73717702	G	A	73717702	3	1	22	1	0	0	0	0	1	0	0	0	11428	1145	40	1	575	1	PAPLN	14	73717702	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9858992	73717702	33631838	71	1387											
CRIP1	1396	broad.mit.edu	37	14	105954816	105954816	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:105954816C>T	uc001yri.4	+	4	316	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank|C14orf80_uc001yrn.3_5'Flank|C14orf80_uc001yro.3_5'Flank|C14orf80_uc001yrm.3_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.	68	Gly-rich.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		AGGCTTTGGGCGGGGCGGAGC	0.632													T	105954816	C	T	105954816	3	4	22	1	0	0	0	0	1	0	0	0	3874	759	27	1	216	1	CRIP1	14	105954816	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	32237114	105954816	1394724	72	1388											
HDC	3067	broad.mit.edu	37	15	50549631	50549631	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr15:50549631G>A	uc001zxz.3	-	3	774	c.432C>T	c.(430-432)ggC>ggT	p.G144G	HDC_uc010uff.2_Silent_p.G144G|HDC_uc010bet.2_Intron|HDC_uc010beu.2_Silent_p.G144G	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	144					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCTGCAGGACGCCTCCGCCCT	0.562													A	50549631	G	A	50549631	2	1	22	1	0	0	0	0	0	0	0	1	7015	1074	38	1		1	HDC	15	50549631	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08		50549631	51981761	73	1389											
ADCY9	115	broad.mit.edu	37	16	4033425	4033425	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:4033425G>A	uc002cvx.3	-	6	2866	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	776					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTCTTCACGGGGGAGTTCTT	0.562													A	4033425	G	A	4033425	3	1	22	1	0	0	0	0	1	0	0	0	301	1232	43	3	1754	3	ADCY9	16	4033425	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		4033425	86321328	74	1390											
MYH11	4629	broad.mit.edu	37	16	15844112	15844112	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:15844112C>T	uc002ddx.3	-	16	2069	c.1962G>A	c.(1960-1962)aaG>aaA	p.K654K	MYH11_uc002ddv.3_Silent_p.K654K|MYH11_uc002ddw.3_Silent_p.K647K|MYH11_uc002ddy.3_Silent_p.K647K|MYH11_uc010bvg.3_Silent_p.K479K|MYH11_uc002dea.1_Silent_p.K353K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	647	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGAACATGCCCTTCTTGGTCT	0.627			T	CBFB	AML								T	15844112	C	T	15844112	2	4	22	1	0	0	0	0	0	0	0	1	10031	680	24	3		3	MYH11	16	15844112	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	11810687	15844112	74510641	75	1391											
CD2BP2	10421	broad.mit.edu	37	16	30364599	30364599	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:30364599G>A	uc002dxr.3	-	4	1071	c.818C>T	c.(817-819)tCg>tTg	p.S273L	CD2BP2_uc002dxs.3_Missense_Mutation_p.S273L	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	273					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	p.S273S(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						ATCTCCCCGCGACTCTGCTTC	0.572													A	30364599	G	A	30364599	3	1	22	1	0	0	0	0	1	0	0	0	2995	1059	37	2	215	2	CD2BP2	16	30364599	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	14520487	30364599	59990154	76	1392											
HYDIN	54768	broad.mit.edu	37	16	70867931	70867931	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:70867931C>T	uc002ezr.3	-	78	13686	c.13535G>A	c.(13534-13536)cGc>cAc	p.R4512H	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4513								p.R4464H(1)|p.R4512H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGAGGGGGCGCAGGAGCCC	0.557													T	70867931	C	T	70867931	3	4	22	1	0	0	0	0	1	0	0	0	7467	768	27	1	1859	1	HYDIN	16	70867931	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	40503332	70867931	19486822	77	1393											
HYDIN	54768	broad.mit.edu	37	16	71026070	71026070	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:71026070G>T	uc002ezr.3	-	23	3839	c.3688C>A	c.(3688-3690)Cag>Aag	p.Q1230K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1230										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACTCCATCTGGGACACTGGG	0.498													T	71026070	G	T	71026070	3	4	22	1	0	0	0	0	1	0	0	0	7467	1357	47	5	11926	5	HYDIN	16	71026070	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	158139	71026070	19328683	78	1394											
YWHAE	7531	broad.mit.edu	37	17	1257637	1257637	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:1257637C>T	uc002fsj.3	-	4	735	c.583G>A	c.(583-585)Gca>Aca	p.A195T	YWHAE_uc002fsk.3_Missense_Mutation_p.A173T|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	195					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	p.A195T(3)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCTGCTTTTGCCAACCTAAAG	0.348			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						T	1257637	C	T	1257637	3	4	22	1	0	0	0	0	1	0	0	0	17499	739	26	3	192	3	YWHAE	17	1257637	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		1257637	79937573	79	1395											
SLFN12L	342615	broad.mit.edu	37	17	33806205	33806205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:33806205C>T	uc002hjn.3	-	2	1825	c.1111G>A	c.(1111-1113)Gtg>Atg	p.V371M	SLFN12L_uc021tuy.1_Missense_Mutation_p.V342M	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	374						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTATCTTTCACGTGCCAGGAA	0.448													T	33806205	C	T	33806205	3	4	22	1	0	0	0	0	1	0	0	0	14735	536	19	1	754	1	SLFN12L	17	33806205	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	32548568	33806205	47389005	80	1396											
KRT13	3860	broad.mit.edu	37	17	39659272	39659272	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:39659272G>A	uc002hwu.1	-	3	877	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc010wfr.2_Missense_Mutation_p.R165C|KRT13_uc010cxo.3_Missense_Mutation_p.R272C|KRT13_uc021txk.1_Missense_Mutation_p.R165C	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	272	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R272S(2)|p.R272R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602													A	39659272	G	A	39659272	3	1	22	1	0	0	0	0	1	0	0	0	8450	1116	39	2	582	2	KRT13	17	39659272	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	5853067	39659272	41535938	81	1397											
DHX58	79132	broad.mit.edu	37	17	40259776	40259776	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:40259776C>T	uc002hyw.3	-	7	1066	c.843G>A	c.(841-843)gcG>gcA	p.A281A	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Silent_p.A274A	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	281					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAGGTGAAGCGCATACACCC	0.657													T	40259776	C	T	40259776	2	4	22	1	0	0	0	0	0	0	0	1	4514	755	27	1		1	DHX58	17	40259776	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	600504	40259776	40935434	82	1398											
B4GALNT2	124872	broad.mit.edu	37	17	47246247	47246247	+	Nonsense_Mutation	SNP	C	C	T	rs112740954	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:47246247C>T	uc002ion.2	+	9	1539	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.R408*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.R434*	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	494					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCGCCTGCAACGAGTGGCTCA	0.592													T	47246247	C	T	47246247	4	4	22	1	0	0	0	0	0	1	0	0	1267	528	19	1	1536	1	B4GALNT2	17	47246247	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	6986471	47246247	33948963	83	1399											
FASN	2194	broad.mit.edu	37	17	80045208	80045208	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:80045208C>T	uc002kdu.3	-	19	3333	c.3216G>A	c.(3214-3216)aaG>aaA	p.K1072K	FASN_uc002kdw.1_Silent_p.K288K	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1072					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TACCTTGGGCCTTGTCCTGCA	0.672													T	80045208	C	T	80045208	2	4	22	1	0	0	0	0	0	0	0	1	5683	680	24	3		3	FASN	17	80045208	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	32798961	80045208	1150002	84	1400											
ZNF521	25925	broad.mit.edu	37	18	22902139	22902139	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr18:22902139T>C	uc002kvk.2	-	2	300	c.53A>G	c.(52-54)aAa>aGa	p.K18R	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.K18R|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	18					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			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)					GTCTTCAAGTTTACAGTTGGG	0.423			T	PAX5	ALL								C	22902139	T	C	22902139	3	2	22	1	0	0	0	0	1	0	0	0	17962	1841	64	4	3906	4	ZNF521	18	22902139	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08		22902139	55175109	85	1401											
SS18	6760	broad.mit.edu	37	18	23618584	23618584	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr18:23618584C>T	uc002kvm.3	-	6	893	c.815G>A	c.(814-816)gGg>gAg	p.G272E	SS18_uc002kvn.3_Missense_Mutation_p.G272E|SS18_uc010xbf.2_Missense_Mutation_p.G190E|SS18_uc010xbg.2_Missense_Mutation_p.G220E|SS18_uc010xbh.2_Missense_Mutation_p.G220E|SS18_uc010xbi.2_Missense_Mutation_p.G249E|SS18_uc010dlz.1_Missense_Mutation_p.G220E	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	272	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	p.G272W(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTATTGGTCCCCGTAATAGTC	0.438			T	"SSX1,  SSX2"	synovial sarcoma								T	23618584	C	T	23618584	3	4	22	1	0	0	0	0	1	0	0	0	15174	623	22	3	461	3	SS18	18	23618584	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	716445	23618584	54458664	86	1402											
TJP3	27134	broad.mit.edu	37	19	3746600	3746600	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:3746600C>T	uc010xhv.2	+	15	2227	c.2227C>T	c.(2227-2229)Cgc>Tgc	p.R743C	TJP3_uc010xhs.2_Missense_Mutation_p.R710C|TJP3_uc010xht.2_Missense_Mutation_p.R674C|TJP3_uc010xhu.2_Missense_Mutation_p.R719C|TJP3_uc010xhw.2_Missense_Mutation_p.R729C	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	724	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGCACTGCGCCAGTGGCT	0.647													T	3746600	C	T	3746600	3	4	22	1	0	0	0	0	1	0	0	0	15928	768	27	1	2289	1	TJP3	19	3746600	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		3746600	55382383	87	1403											
CPAMD8	27151	broad.mit.edu	37	19	17007075	17007075	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:17007075C>T	uc002nfb.3	-	40	5511	c.5479G>A	c.(5479-5481)Ggg>Agg	p.G1827R	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.G292R	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1780						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTAAAGGCCCCGGGGCCACA	0.677													T	17007075	C	T	17007075	3	4	22	1	0	0	0	0	1	0	0	0	3795	623	22	3	327	3	CPAMD8	19	17007075	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	13260475	17007075	42121908	88	1404											
CPAMD8	27151	broad.mit.edu	37	19	17025572	17025572	+	Silent	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:17025572G>A	uc002nfb.3	-	27	3854	c.3822C>T	c.(3820-3822)ttC>ttT	p.F1274F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1227						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGGGTCCACGAAGATAAAGC	0.617													A	17025572	G	A	17025572	2	1	22	1	0	0	0	0	0	0	0	1	3795	1049	37	2		2	CPAMD8	19	17025572	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	18497	17025572	42103411	89	1405											
PSG4	5672	broad.mit.edu	37	19	43702421	43702421	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:43702421G>C	uc002ovy.3	-	2	539	c.437C>G	c.(436-438)aCt>aGt	p.T146S	PSG4_uc010xwk.1_5'UTR|PSG4_uc002ovz.3_Missense_Mutation_p.T146S|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	146					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGCTTGGGAGTCTCCACTGT	0.517													C	43702421	G	C	43702421	3	2	22	1	0	0	0	0	1	0	0	0	12657	1029	36	5	838	5	PSG4	19	43702421	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	26676849	43702421	15426562	90	1406											
ZNF234	10780	broad.mit.edu	37	19	44661986	44661986	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:44661986delG	uc002oym.3	+	5	2124	c.1817delG	c.(1816-1818)agtfs	p.S606fs	ZNF234_uc002oyl.4_Frame_Shift_Del_p.S606fs	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGCACTTCAGTCAGGCCTCA	0.468													-	44661986	G	-	44661986	7	5	22	1	0	1	0	1	0	0	0	0	17784	1029	36	0	1831	0	ZNF234	19	44661986	Frame_Shift_Del	DEL	G	TCGA-06-0145-01A-01W-0224-08	959565	44661986	14466997	91	1407											
NLRP2	55655	broad.mit.edu	37	19	55505643	55505643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:55505643G>A	uc021vbq.1	+	10	2826	c.2715G>A	c.(2713-2715)tgG>tgA	p.W905*	NLRP2_uc010yfp.2_Nonsense_Mutation_p.W882*|NLRP2_uc002qij.3_Nonsense_Mutation_p.W905*|NLRP2_uc010esp.3_Nonsense_Mutation_p.W883*|NLRP2_uc010esn.3_Nonsense_Mutation_p.W881*|NLRP2_uc010eso.3_Nonsense_Mutation_p.W902*	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	905					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTAGGCTTTGGAACTGCGACA	0.483													A	55505643	G	A	55505643	4	1	22	1	0	0	0	0	0	1	0	0	10477	1183	41	3	2753	3	NLRP2	19	55505643	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	10843657	55505643	3623340	92	1408											
NLRP8	126205	broad.mit.edu	37	19	56459556	56459556	+	Silent	SNP	C	C	T	rs146471073		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:56459556C>T	uc002qmh.3	+	0	359	c.288C>T	c.(286-288)cgC>cgT	p.R96R	NLRP8_uc010etg.3_Silent_p.R96R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	96	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGGACGACGCGCTTGGGATG	0.507													T	56459556	C	T	56459556	2	4	22	1	0	0	0	0	0	0	0	1	10483	755	27	1		1	NLRP8	19	56459556	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	953913	56459556	2669427	93	1409											
SLC32A1	140679	broad.mit.edu	37	20	37356997	37356997	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:37356997G>A	uc002xjc.3	+	1	1556	c.1293G>A	c.(1291-1293)tgG>tgA	p.W431*		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	431					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGAAGTCCTGGGGGCTGACGC	0.662													A	37356997	G	A	37356997	4	1	22	1	0	0	0	0	0	1	0	0	14565	1241	43	3	1299	3	SLC32A1	20	37356997	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		37356997	25668523	94	1410											
EYA2	2139	broad.mit.edu	37	20	45811961	45811961	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:45811961G>C	uc002xsm.3	+	14	1832	c.1458G>C	c.(1456-1458)agG>agC	p.R486S	EYA2_uc010ghp.3_Missense_Mutation_p.R407S|EYA2_uc002xsq.3_Missense_Mutation_p.R456S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	486					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCTTCGAGAGGATAATGCAGA	0.517													C	45811961	G	C	45811961	3	2	22	1	0	0	0	0	1	0	0	0	5329	1165	41	5	1512	5	EYA2	20	45811961	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	8454964	45811961	17213559	95	1411											
GPR143	4935	broad.mit.edu	37	X	9711643	9711643	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:9711643delC	uc004cst.2	-	5	877	c.729delG	c.(727-729)aagfs	p.K243fs		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	243					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAAATCGGATCTTGATCACGG	0.393													-	9711643	C	-	9711643	7	5	22	1	0	1	0	1	0	0	0	0	6651	912	32	0	501	0	GPR143	23	9711643	Frame_Shift_Del	DEL	C	TCGA-06-0145-01A-01W-0224-08		9711643	145558917	96	1412											
SCML2	10389	broad.mit.edu	37	X	18260650	18260650	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:18260650G>T	uc004cyl.2	-	13	2040	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	628					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CCAGGTTGAAGGGTCCTTAGA	0.453													T	18260650	G	T	18260650	3	4	22	1	0	0	0	0	1	0	0	0	13910	1000	35	5	227	5	SCML2	23	18260650	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	8549007	18260650	137009910	97	1413											
CNKSR2	22866	broad.mit.edu	37	X	21670464	21670464	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:21670464A>G	uc004czx.2	+	21	3410	c.2930A>G	c.(2929-2931)gAc>gGc	p.D977G	CNKSR2_uc011mjo.2_Missense_Mutation_p.D947G	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	977					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAGTCCTAGACAATCCAGAC	0.378													G	21670464	A	G	21670464	3	3	22	1	0	0	0	0	1	0	0	0	3607	275	10	4	3025	4	CNKSR2	23	21670464	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	3409814	21670464	133600096	98	1414											
DMD	1756	broad.mit.edu	37	X	31986588	31986588	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:31986588G>A	uc004dda.1	-	44	6726	c.6482C>T	c.(6481-6483)aCa>aTa	p.T2161I	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.T817I|DMD_uc004dcx.2_Missense_Mutation_p.T820I|DMD_uc004dcz.2_Missense_Mutation_p.T2038I|DMD_uc004dcy.1_Missense_Mutation_p.T2157I|DMD_uc004ddb.1_Missense_Mutation_p.T2153I|DMD_uc010ngo.1_Missense_Mutation_p.T70I|DMD_uc010ngn.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2161					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			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)				TGCATTCAATGTTCTGACAAC	0.428													A	31986588	G	A	31986588	3	1	22	1	0	0	0	0	1	0	0	0	4580	1377	48	3	4863	3	DMD	23	31986588	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	10316124	31986588	123283972	99	1415											
PIM2	11040	broad.mit.edu	37	X	48771498	48771498	+	Silent	SNP	C	C	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:48771498C>A	uc004dls.3	-	5	1148	c.846G>T	c.(844-846)ctG>ctT	p.L282L	SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	282	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						TCCAGGGGTCCAGCAGGATCT	0.617													A	48771498	C	A	48771498	2	1	22	1	0	0	0	0	0	0	0	1	11928	581	21	5		5	PIM2	23	48771498	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	16784910	48771498	106499062	100	1416											
P2RY4	5030	broad.mit.edu	37	X	69478786	69478786	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:69478786G>T	uc004dxz.1	-	0	869	c.689C>A	c.(688-690)cCc>cAc	p.P230H		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	230					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GCCTGGCAAGGGCTGATACAG	0.582													T	69478786	G	T	69478786	3	4	22	1	0	0	0	0	1	0	0	0	11353	1232	43	5	412	5	P2RY4	23	69478786	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	20707288	69478786	85791774	101	1417											
KIF4A	24137	broad.mit.edu	37	X	69626855	69626855	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:69626855A>G	uc004dyg.3	+	27	3328	c.3185A>G	c.(3184-3186)gAt>gGt	p.D1062G	KIF4A_uc010nkw.3_Missense_Mutation_p.D1062G	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	1062	Globular.|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			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						gatggtgatgatgatgagggg	0.433													G	69626855	A	G	69626855	3	3	22	1	0	0	0	0	1	0	0	0	8303	333	12	4	3291	4	KIF4A	23	69626855	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	148069	69626855	85643705	102	1418											
MED12	9968	broad.mit.edu	37	X	70351950	70351950	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:70351950G>A	uc004dyy.3	+	29	4346	c.4147G>A	c.(4147-4149)Gcc>Acc	p.A1383T	MED12_uc011mpq.1_Missense_Mutation_p.A1383T|MED12_uc004dyz.3_Missense_Mutation_p.A1383T|MED12_uc004dza.3_Missense_Mutation_p.A1230T|MED12_uc010nla.3_Missense_Mutation_p.A9T	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1383					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAGAACATCGCCAAGGCCAC	0.507			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70351950	G	A	70351950	3	1	22	1	0	0	0	0	1	0	0	0	9428	1087	38	1	4265	1	MED12	23	70351950	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	725095	70351950	84918610	103	1419											
DIAPH2	1730	broad.mit.edu	37	X	96171460	96171460	+	Silent	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:96171460A>G	uc004efu.4	+	7	1152	c.756A>G	c.(754-756)ggA>ggG	p.G252G	DIAPH2_uc004eft.4_Silent_p.G252G|DIAPH2_uc004efs.2_Silent_p.G259G	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	252	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGATTCTAGGAGATGAAAGAA	0.299													G	96171460	A	G	96171460	2	3	22	1	0	0	0	0	0	0	0	1	4519	291	11	4		4	DIAPH2	23	96171460	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	25819510	96171460	59099100	104	1420											
RGAG1	57529	broad.mit.edu	37	X	109694565	109694565	+	Silent	SNP	A	A	G			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:109694565A>G	uc004eor.2	+	2	966	c.720A>G	c.(718-720)gaA>gaG	p.E240E	RGAG1_uc011msr.1_Silent_p.E240E	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	240								p.T239S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGACACCGAAGCAATGTCCA	0.468													G	109694565	A	G	109694565	2	3	22	1	0	0	0	0	0	0	0	1	13274	69	3	4		4	RGAG1	23	109694565	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	13523105	109694565	45575995	105	1421											
ODZ1	10178	broad.mit.edu	37	X	123637433	123637433	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:123637433T>C	uc010nqy.3	-	18	3486	c.3422A>G	c.(3421-3423)cAt>cGt	p.H1141R	ODZ1_uc011muj.2_Missense_Mutation_p.H1140R|ODZ1_uc004euj.3_Missense_Mutation_p.H1141R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1141					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAAAATGTGATGCTTATTCAA	0.358													C	123637433	T	C	123637433	3	2	22	1	0	0	0	0	1	0	0	0	10834	1464	51	4	4832	4	ODZ1	23	123637433	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08	13942868	123637433	31633127	106	1422											
GABRE	2564	broad.mit.edu	37	X	151129839	151129839	+	Splice_Site	SNP	T	T	A			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:151129839T>A	uc004ffi.3	-	5	618	c.564_splice	c.e5-1	p.R188_splice	GABRE_uc011myd.2_Splice_Site|GABRE_uc011mye.1_Intron|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	188					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGTCATCCTGGAAGGGAGA	0.493													A	151129839	T	A	151129839	5	1	22	1	0	0	0	0	0	0	1	0	6170	1594	55	5	978	5	GABRE	23	151129839	Splice_Site	SNP	T	TCGA-06-0145-01A-01W-0224-08	27492406	151129839	4140721	107	1423											
ATP2B3	492	broad.mit.edu	37	X	152801876	152801876	+	Silent	SNP	C	C	T			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:152801876C>T	uc004fht.1	+	0	297	c.171C>T	c.(169-171)agC>agT	p.S57S	ATP2B3_uc004fhs.1_Silent_p.S57S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	57					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGATGTCAGCGGGCTCTGCC	0.667													T	152801876	C	T	152801876	2	4	22	1	0	0	0	0	0	0	0	1	1141	767	27	1		1	ATP2B3	23	152801876	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	1672037	152801876	2468684	108	1424											
PI4KB	5298	broad.mit.edu	37	1	151265387	151265387	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:151265387G>A	uc001exr.3	-	12	3067	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	PI4KB_uc001exs.3_Missense_Mutation_p.R783W|PI4KB_uc001exu.3_Missense_Mutation_p.R783W|PI4KB_uc010pcw.2_Missense_Mutation_p.R466W|PI4KB_uc001ext.3_Missense_Mutation_p.R798W	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	798					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GTGATAGACCGCATACTGCCA	0.577													A	151265387	G	A	151265387	3	1	23	1	0	0	0	0	1	0	0	0	11874	1086	38	1	62	1	PI4KB	1	151265387	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		151265387	97985234	1	1425											
DUSP27	92235	broad.mit.edu	37	1	167097496	167097496	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:167097496G>A	uc001geb.1	+	4	3144	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1043					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R1043S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACTTCTTCCGCCGGACCCCA	0.587													A	167097496	G	A	167097496	3	1	23	1	0	0	0	0	1	0	0	0	4824	1087	38	1	3146	1	DUSP27	1	167097496	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	15832109	167097496	82153125	2	1426											
TNN	63923	broad.mit.edu	37	1	175097757	175097757	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:175097757G>A	uc001gkl.1	+	14	3318	c.3205G>A	c.(3205-3207)Gac>Aac	p.D1069N		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1069	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				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)		ACACCCTTCGGACTGCAGTCA	0.547													A	175097757	G	A	175097757	3	1	23	1	0	0	0	0	1	0	0	0	16320	1174	41	3	3259	3	TNN	1	175097757	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	8000261	175097757	74152864	3	1427											
CFHR5	81494	broad.mit.edu	37	1	196964976	196964976	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:196964976C>G	uc001gts.4	+	4	865	c.737C>G	c.(736-738)cCt>cGt	p.P246R		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	246	Sushi 4.				complement activation, alternative pathway	extracellular region		p.G245R(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATAAACGGGCCTAAGAAAATA	0.333													G	196964976	C	G	196964976	3	3	23	1	0	0	0	0	1	0	0	0	3288	681	24	5	755	5	CFHR5	1	196964976	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	21867219	196964976	52285645	4	1428											
DDX59	83479	broad.mit.edu	37	1	200635187	200635187	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:200635187G>A	uc009wzk.3	-	1	925	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	DDX59_uc010ppl.1_Missense_Mutation_p.P228S	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	228						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATTTGAATGGGAGTTGGCACC	0.458													A	200635187	G	A	200635187	3	1	23	1	0	0	0	0	1	0	0	0	4376	1174	41	3	1205	3	DDX59	1	200635187	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	3670211	200635187	48615434	5	1429											
ZRANB3	84083	broad.mit.edu	37	2	135965224	135965224	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr2:135965224G>T	uc002tum.3	-	18	2906	c.2789C>A	c.(2788-2790)tCt>tAt	p.S930Y	ZRANB3_uc002tuk.3_Missense_Mutation_p.S473Y|ZRANB3_uc002tul.3_Missense_Mutation_p.S928Y	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	930						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGAATCCCAAGAGTTCGCTTT	0.428													T	135965224	G	T	135965224	3	4	23	1	0	0	0	0	1	0	0	0	18221	942	33	5	462	5	ZRANB3	2	135965224	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		135965224	107234149	6	1430											
PRKRA	8575	broad.mit.edu	37	2	179296970	179296970	+	Missense_Mutation	SNP	C	C	T	rs148050153		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr2:179296970C>T	uc002umf.3	-	7	997	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_Missense_Mutation_p.A98T|PRKRA_uc002umd.3_Missense_Mutation_p.A241T|PRKRA_uc002ume.3_Missense_Mutation_p.A255T|PRKRA_uc002umg.3_Missense_Mutation_p.A153T|BX538254_uc002umb.1_Intron|PRKRA_uc002umh.1_Non-coding_Transcript	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.	266	DRBM 3.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGTCCATTGGCGCTCAGTTCA	0.418													T	179296970	C	T	179296970	3	4	23	1	0	0	0	0	1	0	0	0	12524	768	27	1	149	1	PRKRA	2	179296970	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	43331746	179296970	63902403	7	1431											
RAD54L2	23132	broad.mit.edu	37	3	51690054	51690054	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:51690054C>T	uc011bdt.2	+	18	3219	c.3094C>T	c.(3094-3096)Ccc>Tcc	p.P1032S	RAD54L2_uc003dbh.3_Missense_Mutation_p.P621S|RAD54L2_uc011bdu.2_Missense_Mutation_p.P726S|RAD54L2_uc003dbj.3_Missense_Mutation_p.P358S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1032						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CACCCCCATCCCCATGATGCC	0.522													T	51690054	C	T	51690054	3	4	23	1	0	0	0	0	1	0	0	0	12994	623	22	3	3164	3	RAD54L2	3	51690054	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08		51690054	146332376	8	1432											
RAP2B	5912	broad.mit.edu	37	3	152880771	152880771	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:152880771C>T	uc003ezr.3	+	0	743	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	97					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CAAGCCCATGCGGGACCAGAT	0.617													T	152880771	C	T	152880771	3	4	23	1	0	0	0	0	1	0	0	0	13041	759	27	1	291	1	RAP2B	3	152880771	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	101190717	152880771	45141659	9	1433											
NLGN1	22871	broad.mit.edu	37	3	173998531	173998531	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:173998531G>C	uc021xhm.1	+	6	2350	c.2030G>C	c.(2029-2031)aGa>aCa	p.R677T	NLGN1_uc003fio.1_Missense_Mutation_p.R637T|NLGN1_uc003fip.1_Missense_Mutation_p.R637T	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	654					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATCACTTTCAGACCTACGAGA	0.433													C	173998531	G	C	173998531	3	2	23	1	0	0	0	0	1	0	0	0	10461	942	33	5	1928	5	NLGN1	3	173998531	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	21117760	173998531	24023899	10	1434											
ALB	213	broad.mit.edu	37	4	74274453	74274453	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr4:74274453G>A	uc003hgs.4	+	3	486	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.R28Q	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	138	Albumin 1.		R -> G (in Yanomama-2).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AACCTCCCCCGATTGGTGAGA	0.398													A	74274453	G	A	74274453	3	1	23	1	0	0	0	0	1	0	0	0	486	1058	37	2	427	2	ALB	4	74274453	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		74274453	116879823	11	1435											
PCDHB5	26167	broad.mit.edu	37	5	140516934	140516934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr5:140516934G>A	uc003liq.3	+	0	2135	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	640	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACAGGCTGGTGGTGCTGGT	0.706													A	140516934	G	A	140516934	3	1	23	1	0	0	0	0	1	0	0	0	11545	1261	44	3	1920	3	PCDHB5	5	140516934	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		140516934	40398326	12	1436											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	23	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-06-0151-01A-01D-1491-08		140453136	18685527	13	1437											
NFIB	4781	broad.mit.edu	37	9	14150145	14150145	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr9:14150145T>C	uc022bdo.1	-	5	1341	c.806_splice	c.e5+1	p.S269_splice	NFIB_uc003zld.3_Splice_Site_p.S17_splice|NFIB_uc003zlf.3_Splice_Site_p.S269_splice|NFIB_uc003zle.3_Splice_Site_p.S269_splice|NFIB_uc022bdp.1_Splice_Site_p.S295_splice|NFIB_uc011lmo.2_Splice_Site_p.S269_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	269					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTTCAGTACCTGCTTGGTGGA	0.458			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								C	14150145	T	C	14150145	3	2	23	1	0	0	0	0	1	0	0	0	10371	1594	55	4	477	4	NFIB	9	14150145	Missense_Mutation	SNP	T	TCGA-06-0151-01A-01D-1491-08		14150145	127063286	14	1438											
TNC	3371	broad.mit.edu	37	9	117844148	117844148	+	Silent	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr9:117844148C>T	uc004bjj.4	-	5	2719	c.2307G>A	c.(2305-2307)cgG>cgA	p.R769R	TNC_uc010mvf.3_Silent_p.R769R|TNC_uc022bmj.1_Silent_p.R769R	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	769	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACCAGTTTGCCGGTAAGAGG	0.522													T	117844148	C	T	117844148	2	4	23	1	0	0	0	0	0	0	0	1	16267	726	26	3		3	TNC	9	117844148	Silent	SNP	C	TCGA-06-0151-01A-01D-1491-08	103694003	117844148	23369283	15	1439											
PRKCQ	5588	broad.mit.edu	37	10	6470257	6470257	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr10:6470257G>A	uc001iji.1	-	16	2216	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V	PRKCQ_uc001ijj.2_Missense_Mutation_p.A678V|PRKCQ_uc009xim.2_Missense_Mutation_p.A615V|PRKCQ_uc009xin.2_Missense_Mutation_p.A642V|PRKCQ_uc010qax.2_Missense_Mutation_p.A553V	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	678					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGCTCTGTCGGCAAATGACAG	0.458													A	6470257	G	A	6470257	3	1	23	1	0	0	0	0	1	0	0	0	12515	1203	42	3	91	3	PRKCQ	10	6470257	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		6470257	129064490	16	1440											
SF1	7536	broad.mit.edu	37	11	64537812	64537812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr11:64537812C>T	uc001obb.2	-	3	757	c.305G>A	c.(304-306)cGc>cAc	p.R102H	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Missense_Mutation_p.R76H|SF1_uc001oaz.2_Missense_Mutation_p.R227H|SF1_uc001oba.2_Missense_Mutation_p.R102H|SF1_uc001obd.2_Missense_Mutation_p.R102H|SF1_uc001obc.2_Missense_Mutation_p.R102H|SF1_uc001obe.2_5'UTR|SF1_uc010rno.2_5'UTR	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	102					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.R102H(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CAGCTTTTTGCGGGTGCGGAA	0.547													T	64537812	C	T	64537812	3	4	23	1	0	0	0	0	1	0	0	0	14145	768	27	1	1792	1	SF1	11	64537812	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08		64537812	70468704	17	1441											
KRT7	3855	broad.mit.edu	37	12	52639222	52639222	+	Silent	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:52639222C>T	uc001saa.1	+	6	1138	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	337	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		CCGCCATTGCCGAGGCTGAGG	0.662													T	52639222	C	T	52639222	2	4	23	1	0	0	0	0	0	0	0	1	8483	639	23	2		2	KRT7	12	52639222	Silent	SNP	C	TCGA-06-0151-01A-01D-1491-08		52639222	81212673	18	1442											
HOXC11	3227	broad.mit.edu	37	12	54367422	54367422	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:54367422A>C	uc001sem.3	+	0	513	c.397A>C	c.(397-399)Acc>Ccc	p.T133P		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	133					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CCCGCACGCAACCCCCGCCGG	0.642			T	NUP98	AML								C	54367422	A	C	54367422	3	2	23	1	0	0	0	0	1	0	0	0	7310	43	2	5	399	5	HOXC11	12	54367422	Missense_Mutation	SNP	A	TCGA-06-0151-01A-01D-1491-08	1728200	54367422	79484473	19	1443											
MYO1A	4640	broad.mit.edu	37	12	57431824	57431824	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:57431824C>T	uc001smw.4	-	17	2030	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	MYO1A_uc010sqz.2_Missense_Mutation_p.R435Q|MYO1A_uc009zpd.3_Missense_Mutation_p.R597Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	597	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GAACTGACCTCGCTGCTGATG	0.592													T	57431824	C	T	57431824	3	4	23	1	0	0	0	0	1	0	0	0	10068	884	31	2	1385	2	MYO1A	12	57431824	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	3064402	57431824	76420071	20	1444											
SELPLG	6404	broad.mit.edu	37	12	109017957	109017957	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:109017957delC	uc010sxe.2	-	1	352	c.175delG	c.(175-177)gccfs	p.A59fs	SELPLG_uc001tni.3_Frame_Shift_Del_p.A43fs|SELPLG_uc021rdm.1_Frame_Shift_Del_p.A43fs|SELPLG_uc001tnh.3_Frame_Shift_Del_p.A43fs	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	43					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TATTCGGTGGCCTGTCTCCGG	0.582													-	109017957	C	-	109017957	7	5	23	1	0	1	0	1	0	0	0	0	14020	739	26	0	1089	0	SELPLG	12	109017957	Frame_Shift_Del	DEL	C	TCGA-06-0151-01A-01D-1491-08	51586133	109017957	24833938	21	1445											
FOXG1	2290	broad.mit.edu	37	14	29236962	29236988	+	In_Frame_Del	DEL	GGGCGAGGGCGGCAAGGACGGGGAGGG	GGGCGAGGGCGGCAAGGACGGGGAGGG	-	rs148157138	byFrequency	TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr14:29236962_29236988delGGGCGAGGGCGGCAAGGACGGGGAGGG	uc001wqe.3	+	0	676_702	c.477_503delGGGCGAGGGCGGCAAGGACGGGGAGGG	c.(475-504)gcgggcgagggcggcaaggacggggagggg>gcg	p.GEGGKDGEG160del		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	160	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.G166G(2)		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)		agaagggggcgggcgagggcggcaaggacggggaggggggcaaggag	0.727													-	29236988	GGGCGAGGGCGGCAAGGACGGGGAGGG	-	29236962	7	5	23	1	0	1	0	1	0	0	0	0	6007	1103	39	0	479	0	FOXG1	14	29236962	In_Frame_Del	DEL	GGGCGAGGGCGGCAAGGACGGGGAGGG	TCGA-06-0151-01A-01D-1491-08		29236962	78112578	22	1446											
KRT222	125113	broad.mit.edu	37	17	38812794	38812794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr17:38812794G>A	uc002hvc.2	-	5	813	c.748C>T	c.(748-750)Cga>Tga	p.R250*	KRT222_uc002hvb.2_Nonsense_Mutation_p.R210*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	250						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGATCAAATCGAAGAGAAACA	0.368													A	38812794	G	A	38812794	4	1	23	1	0	0	0	0	0	1	0	0	8459	1066	37	2	143	2	KRT222	17	38812794	Nonsense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		38812794	42382416	23	1447											
ACPT	93650	broad.mit.edu	37	19	51295399	51295399	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr19:51295399G>A	uc002pta.1	+	4	520	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	174						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CGAGGCCGCCGAGTACCAGGA	0.706													A	51295399	G	A	51295399	3	1	23	1	0	0	0	0	1	0	0	0	168	1059	37	2	538	2	ACPT	19	51295399	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		51295399	7833584	24	1448											
ZNF470	388566	broad.mit.edu	37	19	57089037	57089037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr19:57089037C>T	uc002qnl.4	+	5	1916	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I413F(2)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGGACTTATTCAGCATAAGAG	0.413													T	57089037	C	T	57089037	4	4	23	1	0	0	0	0	0	1	0	0	17926	827	29	3	1254	3	ZNF470	19	57089037	Nonsense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	5793638	57089037	2039946	25	1449											
UMODL1	89766	broad.mit.edu	37	21	43519223	43519223	+	Silent	SNP	G	G	A			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr21:43519223G>A	uc002zag.1	+	6	1119	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	UMODL1_uc002zad.1_Silent_p.L301L|UMODL1_uc002zae.1_Silent_p.L301L|UMODL1_uc002zaf.1_Silent_p.L373L|UMODL1_uc010gow.1_Silent_p.L165L|UMODL1_uc002zai.1_Silent_p.L24L|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Silent_p.L24L|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Silent_p.L118L	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	373	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGAGTGCTGTACAGGGTGA	0.612													A	43519223	G	A	43519223	2	1	23	1	0	0	0	0	0	0	0	1	16977	1364	48	3		3	UMODL1	21	43519223	Silent	SNP	G	TCGA-06-0151-01A-01D-1491-08		43519223	4610672	26	1450											
ITGB2	3689	broad.mit.edu	37	21	46330269	46330269	+	Missense_Mutation	SNP	G	G	A	rs148038936	by1000genomes	TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr21:46330269G>A	uc002zgd.2	-	1	121	c.77C>T	c.(76-78)aCg>aTg	p.T26M	ITGB2_uc002zgf.3_Missense_Mutation_p.T26M|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.T26M|ITGB2_uc002zgg.2_Missense_Mutation_p.T26M	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	26					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.T26T(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTTGAACTTCGTGCACTCCTG	0.657													A	46330269	G	A	46330269	3	1	23	1	0	0	0	0	1	0	0	0	7894	1145	40	1	2288	1	ITGB2	21	46330269	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	2811046	46330269	1799626	27	1451											
SLC35E4	339665	broad.mit.edu	37	22	31042730	31042730	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr22:31042730G>T	uc003ais.1	+	1	1410	c.765G>T	c.(763-765)tgG>tgT	p.W255C	SLC35E4_uc003ait.3_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	255	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCGCCTCTGGGCCTGCATCC	0.677													T	31042730	G	T	31042730	3	4	23	1	0	0	0	0	1	0	0	0	14587	1241	43	5	771	5	SLC35E4	22	31042730	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		31042730	20261836	28	1452											
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													C	15888817	A	C	15888817	2	2	24	1	0	0	0	0	0	0	0	1	4635	175	7	5		5	DNAJC16	1	15888817	Silent	SNP	A	TCGA-06-0152-01A-02W-0323-08		15888817	233361804	1	1453											
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													C	62993826	G	C	62993826	4	2	24	1	0	0	0	0	0	1	0	0	4692	1294	45	5	2570	5	DOCK7	1	62993826	Nonsense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	47105009	62993826	186256795	2	1454											
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													A	159410403	G	A	159410403	2	1	24	1	0	0	0	0	0	0	0	1	10910	1103	39	2		2	OR10J1	1	159410403	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	96416577	159410403	89840218	3	1455											
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													A	160144388	C	A	160144388	3	1	24	1	0	0	0	0	1	0	0	0	1131	478	17	5	2220	5	ATP1A4	1	160144388	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	733985	160144388	89106233	4	1456											
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													A	186017945	-	A	186017944	7	5	24	1	0	1	1	0	0	0	0	0	7220	1291	45	0	6716	0	HMCN1	1	186017944	Frame_Shift_Ins	INS	-	TCGA-06-0152-01A-02W-0323-08	25873556	186017944	63232677	5	1457											
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													C	222860999	G	C	222860999	3	2	24	1	0	0	0	0	1	0	0	0	423	1188	41	5	653	5	AIDA	1	222860999	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	36843055	222860999	26389622	6	1458											
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													C	36810520	A	C	36810520	3	2	24	1	0	0	0	0	1	0	0	0	5824	214	8	5	702	5	FEZ2	2	36810520	Missense_Mutation	SNP	A	TCGA-06-0152-01A-02W-0323-08		36810520	206388853	7	1459											
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													A	87013056	G	A	87013056	3	1	24	1	0	0	0	0	1	0	0	0	3044	1087	38	1	16	1	CD8A	2	87013056	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	50202536	87013056	156186317	8	1460											
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													T	96262159	A	T	96262159	3	4	24	1	0	0	0	0	1	0	0	0	16515	40	2	5	727	5	TRIM43	2	96262159	Missense_Mutation	SNP	A	TCGA-06-0152-01A-02W-0323-08	9249103	96262159	146937214	9	1461											
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													A	131486773	G	A	131486773	3	1	24	1	0	0	0	0	1	0	0	0	6653	1203	42	3	51	3	GPR148	2	131486773	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	35224614	131486773	111712600	10	1462											
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													A	38104257	G	A	38104257	2	1	24	1	0	0	0	0	0	0	0	1	4552	1045	37	2		2	DLEC1	3	38104257	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		38104257	159918173	11	1463											
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													G	41953077	T	G	41953077	3	3	24	1	0	0	0	0	1	0	0	0	16975	1841	64	5	2968	5	ULK4	3	41953077	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	3848820	41953077	156069353	12	1464											
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													T	151788860	C	T	151788860	3	4	24	1	0	0	0	0	1	0	0	0	8931	536	19	1	6010	1	LRBA	4	151788860	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		151788860	39365416	13	1465											
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													A	140752102	G	A	140752102	3	1	24	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140752102	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		140752102	40163158	14	1466											
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													A	180048197	G	A	180048197	2	1	24	1	0	0	0	0	0	0	0	1	5944	1078	38	1		1	FLT4	5	180048197	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	39296095	180048197	867063	15	1467											
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													T	34004373	C	T	34004373	3	4	24	1	0	0	0	0	1	0	0	0	6799	652	23	2	1236	2	GRM4	6	34004373	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		34004373	137110694	16	1468											
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													A	38957817	G	A	38957817	2	1	24	1	0	0	0	0	0	0	0	1	4607	1132	40	1		1	DNAH8	6	38957817	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	4953444	38957817	132157250	17	1469											
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													T	47763200	C	T	47763200	2	4	24	1	0	0	0	0	0	0	0	1	10883	547	19	1		1	OPN5	6	47763200	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	8805383	47763200	123351867	18	1470											
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													A	51889738	G	A	51889738	3	1	24	1	0	0	0	0	1	0	0	0	11971	1115	39	2	7537	2	PKHD1	6	51889738	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	4126538	51889738	119225329	19	1471											
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													T	74079390	C	T	74079390	2	4	24	1	0	0	0	0	0	0	0	1	10870	639	23	2		2	OOEP	6	74079390	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	22189652	74079390	97035677	20	1472											
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													T	76024625	G	T	76024625	4	4	24	1	0	0	0	0	0	1	0	0	5894	1059	37	5	2726	5	FILIP1	6	76024625	Nonsense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	1945235	76024625	95090442	21	1473											
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													G	108225906	T	G	108225906	3	3	24	1	0	0	0	0	1	0	0	0	14005	1838	64	5	1345	5	SEC63	6	108225906	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	32201281	108225906	62889161	22	1474											
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													C	142736937	T	C	142736937	2	2	24	1	0	0	0	0	0	0	0	1	6640	1490	52	4		4	GPR126	6	142736937	Silent	SNP	T	TCGA-06-0152-01A-02W-0323-08	34511031	142736937	28378130	23	1475											
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													C	87258211	G	C	87258211	2	2	24	1	0	0	0	0	0	0	0	1	13745	1277	45	5		5	RUNDC3B	7	87258211	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		87258211	71880452	24	1476											
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													T	103338350	C	T	103338350	3	4	24	1	0	0	0	0	1	0	0	0	13220	884	31	2	9513	2	RELN	7	103338350	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	16080139	103338350	55800313	25	1477											
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													C	132754903	T	C	132754903	2	2	24	1	0	0	0	0	0	0	0	1	3317	1594	55	4		4	CHCHD3	7	132754903	Silent	SNP	T	TCGA-06-0152-01A-02W-0323-08	29416553	132754903	26383760	26	1478											
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													T	142655026	G	T	142655026	3	4	24	1	0	0	0	0	1	0	0	0	8142	1174	41	5	1694	5	KEL	7	142655026	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	9900123	142655026	16483637	27	1479											
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													G	143036401	C	G	143036401	3	3	24	1	0	0	0	0	1	0	0	0	3462	681	24	5	1507	5	CLCN1	7	143036401	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	381375	143036401	16102262	28	1480											
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													A	1806268	C	A	1806268	2	1	24	1	0	0	0	0	0	0	0	1	894	610	22	5		5	ARHGEF10	8	1806268	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08		1806268	144557754	29	1481											
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													T	67062093	G	T	67062093	4	4	24	1	0	0	0	0	0	1	0	0	16526	943	33	5	835	5	TRIM55	8	67062093	Nonsense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	65255825	67062093	79301929	30	1482											
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													T	19346294	C	T	19346294	3	4	24	1	0	0	0	0	1	0	0	0	4435	652	23	2	2742	2	DENND4C	9	19346294	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		19346294	121867137	31	1483											
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													A	71080089	G	A	71080089	3	1	24	1	0	0	0	0	1	0	0	0	11801	1145	40	1	1150	1	PGM5	9	71080089	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	51733795	71080089	70133342	32	1484											
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													A	72130983	G	A	72130983	3	1	24	1	0	0	0	0	1	0	0	0	756	1087	38	1	1417	1	APBA1	9	72130983	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	1050894	72130983	69082448	33	1485											
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	0.65													-	131020821	TCC	-	131020819	7	5	24	1	0	1	0	1	0	0	0	0	6552	1435	50	0	909	0	GOLGA2	9	131020819	In_Frame_Del	DEL	TCC	TCGA-06-0152-01A-02W-0323-08	58889836	131020819	10192612	34	1486											
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													T	138586907	C	T	138586907	2	4	24	1	0	0	0	0	0	0	0	1	14923	755	27	1		1	SOHLH1	9	138586907	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	7566088	138586907	2626524	35	1487											
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													T	24762771	C	T	24762771	2	4	24	1	0	0	0	0	0	0	0	1	8216	535	19	1		1	KIAA1217	10	24762771	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08		24762771	110771976	36	1488											
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													C	30315407	G	C	30315407	3	2	24	1	0	0	0	0	1	0	0	0	8234	1232	43	5	417	5	KIAA1462	10	30315407	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	5552636	30315407	105219340	37	1489											
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													T	129231688	G	T	129231688	3	4	24	1	0	0	0	0	1	0	0	0	4684	1058	37	5	5183	5	DOCK1	10	129231688	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	98916281	129231688	6303059	38	1490											
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													T	20949959	C	T	20949959	3	4	24	1	0	0	0	0	1	0	0	0	10333	623	22	3	965	3	NELL1	11	20949959	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		20949959	114056557	39	1491											
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													A	65988123	G	A	65988123	3	1	24	1	0	0	0	0	1	0	0	0	11372	1377	48	3	1094	3	PACS1	11	65988123	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	45038164	65988123	69018393	40	1492											
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													T	3649947	G	T	3649947	3	4	24	1	0	0	0	0	1	0	0	0	12542	1232	43	5	257	5	PRMT8	12	3649947	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		3649947	130201948	41	1493											
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													A	129694197	G	A	129694197	2	1	24	1	0	0	0	0	0	0	0	1	16044	1164	41	3		3	TMEM132D	12	129694197	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	126044250	129694197	4157698	42	1494											
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													C	29599308	T	C	29599308	3	2	24	1	0	0	0	0	1	0	0	0	9966	1725	60	4	505	4	MTUS2	13	29599308	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08		29599308	85570570	43	1495											
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													G	86370526	T	G	86370526	3	3	24	1	0	0	0	0	1	0	0	0	14747	1850	64	5	2411	5	SLITRK6	13	86370526	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	56771218	86370526	28799352	44	1496											
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													A	38060897	G	A	38060897	2	1	24	1	0	0	0	0	0	0	0	1	5989	1103	39	2		2	FOXA1	14	38060897	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		38060897	69288643	45	1497											
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													T	72055586	C	T	72055586	3	4	24	1	0	0	0	0	1	0	0	0	14329	594	21	3	999	3	SIPA1L1	14	72055586	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	33994689	72055586	35293954	46	1498											
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													T	94394688	C	T	94394688	2	4	24	1	0	0	0	0	0	0	0	1	5508	767	27	1		1	FAM181A	14	94394688	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	22339102	94394688	12954852	47	1499											
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													T	94914503	C	T	94914503	2	4	24	1	0	0	0	0	0	0	0	1	14088	523	19	1		1	SERPINA11	14	94914503	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	519815	94914503	12435037	48	1500											
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													T	34077951	G	T	34077951	3	4	24	1	0	0	0	0	1	0	0	0	13770	1020	36	5	9619	5	RYR3	15	34077951	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		34077951	68453441	49	1501											
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													A	41860451	G	A	41860451	3	1	24	1	0	0	0	0	1	0	0	0	16811	1087	38	1	1028	1	TYRO3	15	41860451	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	7782500	41860451	60670941	50	1502											
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													T	74554903	C	T	74554903	3	4	24	1	0	0	0	0	1	0	0	0	2806	710	25	3	318	3	CCDC33	15	74554903	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	32694452	74554903	27976489	51	1503											
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													A	80263133	G	A	80263133	3	1	24	1	0	0	0	0	1	0	0	0	1366	1116	39	2	266	2	BCL2A1	15	80263133	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	5708230	80263133	22268259	52	1504											
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													A	85400203	C	A	85400203	3	1	24	1	0	0	0	0	1	0	0	0	546	768	27	5	2862	5	ALPK3	15	85400203	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	5137070	85400203	17131189	53	1505											
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													T	90226684	C	T	90226684	3	4	24	1	0	0	0	0	1	0	0	0	11737	855	30	3	79	3	PEX11A	15	90226684	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	4826481	90226684	12304708	54	1506											
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													A	5128838	G	A	5128838	3	1	24	1	0	0	0	0	1	0	0	0	510	1145	40	1	847	1	ALG1	16	5128838	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		5128838	85225915	55	1507											
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													T	3567085	C	T	3567085	3	4	24	1	0	0	0	0	1	0	0	0	15592	652	23	2	46	2	TAX1BP3	17	3567085	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		3567085	77628125	56	1508											
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)	A	4860277	G	A	4860277	3	1	24	1	0	0	0	0	1	0	0	0	5123	1059	37	2	1282	2	ENO3	17	4860277	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	1293192	4860277	76334933	57	1509											
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)			A	7984477	G	A	7984477	2	1	24	1	0	0	0	0	0	0	0	1	537	1103	39	2		2	ALOX12B	17	7984477	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	3124200	7984477	73210733	58	1510											
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													A	72916074	G	A	72916074	3	1	24	1	0	0	0	0	1	0	0	0	17032	1203	42	3	536	3	USH1G	17	72916074	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	64931597	72916074	8279136	59	1511											
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													A	74136123	C	A	74136123	2	1	24	1	0	0	0	0	0	0	0	1	6011	755	27	5		5	FOXJ1	17	74136123	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	1220049	74136123	7059087	60	1512											
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													A	29890192	G	A	29890192	2	1	24	1	0	0	0	0	0	0	0	1	5592	1074	38	1		1	FAM59A	18	29890192	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		29890192	48187056	61	1513											
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													T	61156656	C	T	61156656	3	4	24	1	0	0	0	0	1	0	0	0	14104	536	19	1	393	1	SERPINB5	18	61156656	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	31266464	61156656	16920592	62	1514											
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													G	9067989	A	G	9067989	3	3	24	1	0	0	0	0	1	0	0	0	9973	131	5	4	24394	4	MUC16	19	9067989	Missense_Mutation	SNP	A	TCGA-06-0152-01A-02W-0323-08		9067989	50060994	63	1515											
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													A	10742381	G	A	10742381	2	1	24	1	0	0	0	0	0	0	0	1	14636	1190	42	3		3	SLC44A2	19	10742381	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	1674392	10742381	48386602	64	1516											
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													A	43429925	C	A	43429925	3	1	24	1	0	0	0	0	1	0	0	0	12660	608	21	5	24	5	PSG7	19	43429925	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	32687544	43429925	15699058	65	1517											
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													-	44417709	G	-	44417709	7	5	24	1	0	1	0	1	0	0	0	0	17918	1000	35	0	173	0	ZNF45	19	44417709	Frame_Shift_Del	DEL	G	TCGA-06-0152-01A-02W-0323-08	987784	44417709	14711274	66	1518											
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													A	45029207	G	A	45029207	2	1	24	1	0	0	0	0	0	0	0	1	3191	1335	47	3		3	CEACAM20	19	45029207	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	611498	45029207	14099776	67	1519											
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													C	53116375	T	C	53116375	2	2	24	1	0	0	0	0	0	0	0	1	18180	1538	54	4		4	ZNF83	19	53116375	Silent	SNP	T	TCGA-06-0152-01A-02W-0323-08	8087168	53116375	6012608	68	1520											
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													G	54669199	T	G	54669199	3	3	24	1	0	0	0	0	1	0	0	0	15984	1667	58	5	1261	5	TMC4	19	54669199	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	1552824	54669199	4459784	69	1521											
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													A	56244390	G	A	56244390	2	1	24	1	0	0	0	0	0	0	0	1	10484	987	35	3		3	NLRP9	19	56244390	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	1575191	56244390	2884593	70	1522											
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													T	8352082	C	T	8352082	2	4	24	1	0	0	0	0	0	0	0	1	12027	535	19	1		1	PLCB1	20	8352082	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08		8352082	54673438	71	1523											
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													T	23016952	G	T	23016952	3	4	24	1	0	0	0	0	1	0	0	0	15199	1261	44	5	834	5	SSTR4	20	23016952	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	14664870	23016952	40008568	72	1524											
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													A	47244458	G	A	47244458	3	1	24	1	0	0	0	0	1	0	0	0	12476	1144	40	1	181	1	PREX1	20	47244458	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	24227506	47244458	15781062	73	1525											
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													T	49621144	C	T	49621144	3	4	24	1	0	0	0	0	1	0	0	0	8027	536	19	1	571	1	KCNG1	20	49621144	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	2376686	49621144	13404376	74	1526											
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													C	20784714	A	C	20784714	5	2	24	1	0	0	0	0	0	0	1	0	13884	173	6	5	1432	5	SCARF2	22	20784714	Splice_Site	SNP	A	TCGA-06-0152-01A-02W-0323-08		20784714	30519852	75	1527											
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													A	40078576	G	A	40078576	3	1	24	1	0	0	0	0	1	0	0	0	2546	1145	40	1	5878	1	CACNA1I	22	40078576	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	19293862	40078576	11225990	76	1528											
CLCNKA	1187	broad.mit.edu	37	1	16355293	16355293	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:16355293G>A	uc001axu.3	+	10	1086	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.A293T|CLCNKA_uc001axv.3_Missense_Mutation_p.A336T|CLCNKA_uc010obx.1_5'UTR|CLCNKA_uc010oby.1_Missense_Mutation_p.R65H|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	336					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTTGCTTCTCGCCTCCATCAC	0.632													A	16355293	G	A	16355293	3	1	25	1	0	0	0	0	1	0	0	0	3469	1087	38	1	1044	1	CLCNKA	1	16355293	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		16355293	232895328	1	1529											
LRRC7	57554	broad.mit.edu	37	1	70503971	70503971	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:70503971A>G	uc001dep.3	+	18	2380	c.2350A>G	c.(2350-2352)Acc>Gcc	p.T784A	LRRC7_uc009wbg.3_Missense_Mutation_p.T68A|LRRC7_uc001deq.3_Missense_Mutation_p.T25A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	784						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGCTGAGGAAACCACAGCCGA	0.488													G	70503971	A	G	70503971	3	3	25	1	0	0	0	0	1	0	0	0	9020	43	2	4	2424	4	LRRC7	1	70503971	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08	54148678	70503971	178746650	2	1530											
MCOLN3	55283	broad.mit.edu	37	1	85499910	85499910	+	Missense_Mutation	SNP	C	C	T	rs144793042	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:85499910C>T	uc001dkp.3	-	3	568	c.421G>A	c.(421-423)Gtt>Att	p.V141I	MCOLN3_uc001dkq.3_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.3_Missense_Mutation_p.V141I|MCOLN3_uc001dks.4_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	141						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGATTCCCAACGGAGACATTG	0.468													T	85499910	C	T	85499910	3	4	25	1	0	0	0	0	1	0	0	0	9397	536	19	1	1280	1	MCOLN3	1	85499910	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	14995939	85499910	163750711	3	1531											
RPL5	6125	broad.mit.edu	37	1	93301746	93301746	+	Splice_Site	SNP	G	G	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:93301746G>C	uc001doz.3	+	5	403	c.325_splice	c.e5-1	p.L109_splice	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Intron|RPL5_uc001dpb.3_Splice_Site_p.L59_splice|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	109					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTCTTGAATAGCTTCTCAATA	0.398													C	93301746	G	C	93301746	5	2	25	1	0	0	0	0	0	0	1	0	13597	985	34	5	342	5	RPL5	1	93301746	Splice_Site	SNP	G	TCGA-06-0154-01A-03D-1491-08	7801836	93301746	155948875	4	1532											
ADAMTSL4	54507	broad.mit.edu	37	1	150530514	150530514	+	Silent	SNP	T	T	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:150530514T>G	uc009wlw.3	+	13	2498	c.2340T>G	c.(2338-2340)ggT>ggG	p.G780G	ADAMTSL4_uc001euw.3_Silent_p.G757G|ADAMTSL4_uc001eux.3_Silent_p.G757G|ADAMTSL4_uc010pcg.2_Silent_p.G718G|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	757	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTGGGGGGGGTGGCTCCTCGG	0.692													G	150530514	T	G	150530514	2	3	25	1	0	0	0	0	0	0	0	1	277	1683	59	5		5	ADAMTSL4	1	150530514	Silent	SNP	T	TCGA-06-0154-01A-03D-1491-08	57228768	150530514	98720107	5	1533											
FLG	2312	broad.mit.edu	37	1	152283083	152283083	+	Missense_Mutation	SNP	C	C	T	rs148844389	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:152283083C>T	uc001ezu.1	-	2	4315	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1427	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TGGCCACGTGCGGACTCTTTG	0.557									Ichthyosis				T	152283083	C	T	152283083	3	4	25	1	0	0	0	0	1	0	0	0	5922	768	27	1	7910	1	FLG	1	152283083	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	1752569	152283083	96967538	6	1534											
F5	2153	broad.mit.edu	37	1	169510563	169510563	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:169510563C>G	uc001ggg.1	-	12	3910	c.3765G>C	c.(3763-3765)caG>caC	p.Q1255H		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1255	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGAGGTTTGTCTGGCTGAGGT	0.522													G	169510563	C	G	169510563	3	3	25	1	0	0	0	0	1	0	0	0	5348	912	32	5	2961	5	F5	1	169510563	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	17227480	169510563	79740058	7	1535											
OBSCN	84033	broad.mit.edu	37	1	228467603	228467603	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:228467603G>A	uc009xez.1	+	27	7522	c.7478G>A	c.(7477-7479)cGg>cAg	p.R2493Q	OBSCN_uc001hsn.3_Missense_Mutation_p.R2493Q|OBSCN_uc001hsp.1_Missense_Mutation_p.R192Q|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2493	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R2493L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGACTTCCGGCCAGCCCCC	0.622													A	228467603	G	A	228467603	3	1	25	1	0	0	0	0	1	0	0	0	10812	1116	39	2	7584	2	OBSCN	1	228467603	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	58957040	228467603	20783018	8	1536											
RYR2	6262	broad.mit.edu	37	1	237924281	237924281	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:237924281G>A	uc001hyl.1	+	83	11549	c.11429G>A	c.(11428-11430)cGa>cAa	p.R3810Q	RYR2_uc010pya.2_Missense_Mutation_p.R225Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3810					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			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)			GCATTTGAGCGACAAAACAAA	0.393													A	237924281	G	A	237924281	3	1	25	1	0	0	0	0	1	0	0	0	13769	1058	37	2	11763	2	RYR2	1	237924281	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	9456678	237924281	11326340	9	1537											
SCN7A	6332	broad.mit.edu	37	2	167327191	167327191	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr2:167327191C>A	uc002udu.2	-	5	728	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	200					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GGAATGAAGTCCAGAGGTGAG	0.294													A	167327191	C	A	167327191	3	1	25	1	0	0	0	0	1	0	0	0	13923	855	30	5	4530	5	SCN7A	2	167327191	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08		167327191	75872182	10	1538											
RBMS3	27303	broad.mit.edu	37	3	29938905	29938905	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:29938905G>A	uc003cel.3	+	8	1197	c.827G>A	c.(826-828)cGc>cAc	p.R276H	RBMS3_uc010hfq.3_Missense_Mutation_p.R289H|RBMS3_uc003cek.3_Missense_Mutation_p.R276H|RBMS3_uc010hfr.3_Missense_Mutation_p.R276H|RBMS3_uc003cem.3_Missense_Mutation_p.R275H	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	276						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCAACCAACCGCATGATTCCA	0.433													A	29938905	G	A	29938905	3	1	25	1	0	0	0	0	1	0	0	0	13150	1087	38	1	904	1	RBMS3	3	29938905	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		29938905	168083525	11	1539											
DNAH1	25981	broad.mit.edu	37	3	52422625	52422625	+	Silent	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:52422625G>A	uc011bef.2	+	58	9624	c.9363_splice	c.e58+1	p.K3121_splice	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3121					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGCTGGCAAGGTGCGCACCC	0.657													A	52422625	G	A	52422625	2	1	25	1	0	0	0	0	0	0	0	1	4597	1014	35	3		3	DNAH1	3	52422625	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	22483720	52422625	145599805	12	1540											
FETUB	26998	broad.mit.edu	37	3	186362610	186362610	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:186362610C>A	uc010hyq.3	+	4	756	c.495C>A	c.(493-495)caC>caA	p.H165Q	FETUB_uc011brz.2_Missense_Mutation_p.H17Q|FETUB_uc003fqn.3_Missense_Mutation_p.H165Q|FETUB_uc010hyr.3_Missense_Mutation_p.H128Q|FETUB_uc010hys.3_Missense_Mutation_p.H17Q|FETUB_uc003fqp.4_Missense_Mutation_p.H100Q	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	165	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CTTCCAATCACCAAGTGCTGG	0.443													A	186362610	C	A	186362610	3	1	25	1	0	0	0	0	1	0	0	0	5821	506	18	5	509	5	FETUB	3	186362610	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	133939985	186362610	11659820	13	1541											
GABRA4	2557	broad.mit.edu	37	4	46973176	46973176	+	Silent	SNP	C	C	T	rs147092196		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:46973176C>T	uc003gxg.3	-	6	1781	c.798G>A	c.(796-798)ccG>ccA	p.P266P	GABRA4_uc021xnz.1_Silent_p.P247P|GABRA4_uc021xoa.1_Intron	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	266					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATAATGCACGGAATATAGG	0.368													T	46973176	C	T	46973176	2	4	25	1	0	0	0	0	0	0	0	1	6163	523	19	1		1	GABRA4	4	46973176	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08		46973176	144181100	14	1542											
UGT2B7	7364	broad.mit.edu	37	4	69962448	69962448	+	Silent	SNP	C	C	T	rs151180306		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:69962448C>T	uc003heg.4	+	0	256	c.210C>T	c.(208-210)tcC>tcT	p.S70S	UGT2B7_uc010ihq.3_Silent_p.S70S	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	70					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S70S(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAACTCATCCGCTCTTAAAA	0.373													T	69962448	C	T	69962448	2	4	25	1	0	0	0	0	0	0	0	1	16959	639	23	2		2	UGT2B7	4	69962448	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	22989272	69962448	121191828	15	1543											
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:175598335G>A	uc003ity.1	-	6	1324	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_uc003itz.1_Missense_Mutation_p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	274					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478													A	175598335	G	A	175598335	3	1	25	1	0	0	0	0	1	0	0	0	6456	1294	45	3	589	3	GLRA3	4	175598335	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	105635887	175598335	15555941	16	1544											
PRDM9	56979	broad.mit.edu	37	5	23526914	23526914	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:23526914A>T	uc003jgo.3	+	10	1899	c.1717A>T	c.(1717-1719)Ata>Tta	p.I573L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	573					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						TCACCAGAGGATACACACAGG	0.562										HNSCC(3;0.000094)			T	23526914	A	T	23526914	3	4	25	1	0	0	0	0	1	0	0	0	12463	333	12	5	1755	5	PRDM9	5	23526914	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08		23526914	157388346	17	1545											
AP3S1	1176	broad.mit.edu	37	5	115249179	115249179	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:115249179T>C	uc003krl.3	+	5	690	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	AP3S1_uc003krk.3_Missense_Mutation_p.F170L	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	192					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		CCTGCCCTCTTTTAAATAAAA	0.393													C	115249179	T	C	115249179	3	2	25	1	0	0	0	0	1	0	0	0	749	1841	64	4	596	4	AP3S1	5	115249179	Missense_Mutation	SNP	T	TCGA-06-0154-01A-03D-1491-08	91722265	115249179	65666081	18	1546											
PCDHAC2	56136	broad.mit.edu	37	5	140263908	140263908	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140263908C>T	uc003lif.2	+	0	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.G685G|PCDHAC2_uc003lid.3_Silent_p.G685G	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	698	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCAGGCGCTGTGGGTC	0.632													T	140263908	C	T	140263908	2	4	25	1	0	0	0	0	0	0	0	1	11533	755	27	1		1	PCDHAC2	5	140263908	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	25014729	140263908	40651352	19	1547											
PCDHB12	56124	broad.mit.edu	37	5	140590224	140590224	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140590224C>T	uc003liz.3	+	0	1934	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHB12_uc011dak.2_Missense_Mutation_p.P245L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	582	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCGAGCCGGGCTACCTG	0.692													T	140590224	C	T	140590224	3	4	25	1	0	0	0	0	1	0	0	0	11537	652	23	2	1747	2	PCDHB12	5	140590224	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	326316	140590224	40325036	20	1548											
PCDHGC5	56110	broad.mit.edu	37	5	140745008	140745008	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140745008G>A	uc003lju.2	+	0	1111	c.1111G>A	c.(1111-1113)Gta>Ata	p.V371I	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_uc011das.2_Missense_Mutation_p.V371I	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	374	Cadherin 4.				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)			GCTGTTTAGCGTACATGATGG	0.443													A	140745008	G	A	140745008	3	1	25	1	0	0	0	0	1	0	0	0	11571	1145	40	1		1	PCDHGC5	5	140745008	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	154784	140745008	40170252	21	1549											
DOCK2	1794	broad.mit.edu	37	5	169503081	169503081	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:169503081G>A	uc003maf.3	+	46	4939	c.4859G>A	c.(4858-4860)cGa>cAa	p.R1620Q	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.R1112Q|DOCK2_uc003mah.3_Missense_Mutation_p.R176Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1620	DHR-2.				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			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)			TACGGTGTCCGAGAGATGGTA	0.532													A	169503081	G	A	169503081	3	1	25	1	0	0	0	0	1	0	0	0	4687	1058	37	2	5045	2	DOCK2	5	169503081	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	28758073	169503081	11412179	22	1550											
AGPAT1	10554	broad.mit.edu	37	6	32138354	32138354	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:32138354G>A	uc003oae.3	-	3	693	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Missense_Mutation_p.R84C|AGPAT1_uc003oag.3_Intron|AGPAT1_uc003oah.3_Missense_Mutation_p.R120C|AGPAT1_uc003oai.1_Missense_Mutation_p.R120C|AGPAT1_uc011dpl.2_Missense_Mutation_p.R8C	NM_006411	NP_116130	Q99943	PLCA_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.	120					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGCACACAGCGGCCTGGCAGT	0.652													A	32138354	G	A	32138354	3	1	25	1	0	0	0	0	1	0	0	0	386	1116	39	2	509	2	AGPAT1	6	32138354	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		32138354	138976713	23	1551											
SPDEF	25803	broad.mit.edu	37	6	34508955	34508955	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:34508955G>C	uc003ojq.2	-	2	874	c.440C>G	c.(439-441)cCc>cGc	p.P147R	SPDEF_uc011dsq.2_Missense_Mutation_p.P147R	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	147	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P147R(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCAGTCCATGGGATCTGGGCA	0.647													C	34508955	G	C	34508955	3	2	25	1	0	0	0	0	1	0	0	0	15025	1232	43	5	583	5	SPDEF	6	34508955	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	2370601	34508955	136606112	24	1552											
KHDRBS2	202559	broad.mit.edu	37	6	62604709	62604709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:62604709G>A	uc003peg.2	-	5	888	c.641C>T	c.(640-642)cCa>cTa	p.P214L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	214	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCAGGTGGTGGGGGAGGAGG	0.557													A	62604709	G	A	62604709	3	1	25	1	0	0	0	0	1	0	0	0	8147	1348	47	3	424	3	KHDRBS2	6	62604709	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	28095754	62604709	108510358	25	1553											
ANKRD6	22881	broad.mit.edu	37	6	90337365	90337365	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:90337365C>T	uc003pni.4	+	13	1776	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	ANKRD6_uc003pne.4_Missense_Mutation_p.R479C|ANKRD6_uc003pnf.4_Missense_Mutation_p.R444C|ANKRD6_uc011dzy.2_Missense_Mutation_p.R479C|ANKRD6_uc010kcd.3_Missense_Mutation_p.R420C|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_Missense_Mutation_p.R75C	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	479							protein binding	p.R479C(4)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GTGCCTGAACCGCCTGCAACA	0.512													T	90337365	C	T	90337365	3	4	25	1	0	0	0	0	1	0	0	0	685	652	23	2	1485	2	ANKRD6	6	90337365	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	27732656	90337365	80777702	26	1554											
KIAA1244	57221	broad.mit.edu	37	6	138531166	138531166	+	Silent	SNP	G	G	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:138531166G>T	uc003qhu.3	+	3	510	c.339G>T	c.(337-339)gtG>gtT	p.V113V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	113					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCTGCAGGTGGAAGTGATGA	0.502													T	138531166	G	T	138531166	2	4	25	1	0	0	0	0	0	0	0	1	8217	1335	47	5		5	KIAA1244	6	138531166	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	48193801	138531166	32583901	27	1555											
KIAA1244	57221	broad.mit.edu	37	6	138657552	138657552	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:138657552G>A	uc003qhu.3	+	33	6634	c.6463G>A	c.(6463-6465)Gac>Aac	p.D2155N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	2155					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCACGTGACCGACATCAGAGT	0.562													A	138657552	G	A	138657552	3	1	25	1	0	0	0	0	1	0	0	0	8217	1058	37	2	6597	2	KIAA1244	6	138657552	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	126386	138657552	32457515	28	1556											
PLG	5340	broad.mit.edu	37	6	161139731	161139731	+	Silent	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:161139731G>A	uc003qtm.4	+	8	1069	c.957G>A	c.(955-957)ttG>ttA	p.L319L		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	319	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCAGAAATTTGGATGAAAACT	0.453													A	161139731	G	A	161139731	2	1	25	1	0	0	0	0	0	0	0	1	12086	1339	47	3		3	PLG	6	161139731	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	22482179	161139731	9975336	29	1557											
GHRHR	2692	broad.mit.edu	37	7	31016046	31016046	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:31016046G>A	uc003tbx.3	+	10	1025	c.977G>A	c.(976-978)cGt>cAt	p.R326H	GHRHR_uc003tby.3_Missense_Mutation_p.R262H|GHRHR_uc003tbz.3_Silent_p.A92A	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	326					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TCCTGCAGGCGTCTCTCCAAG	0.512													A	31016046	G	A	31016046	3	1	25	1	0	0	0	0	1	0	0	0	6373	1145	40	1	1059	1	GHRHR	7	31016046	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		31016046	128122617	30	1558											
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220274	C	T	55220274	3	4	25	1	0	0	0	0	1	0	0	0	4967	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	24204228	55220274	103918389	31	1559											
WBSCR28	135886	broad.mit.edu	37	7	73280082	73280082	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:73280082C>T	uc003tzk.2	+	2	713	c.677C>T	c.(676-678)gCc>gTc	p.A226V	WBSCR28_uc003tzl.2_Missense_Mutation_p.A125V	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	226						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				ACCCAGCTGGCCGAGGCCCAG	0.627													T	73280082	C	T	73280082	3	4	25	1	0	0	0	0	1	0	0	0	17264	739	26	3	687	3	WBSCR28	7	73280082	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	18059808	73280082	85858581	32	1560											
ASNS	440	broad.mit.edu	37	7	97484694	97484694	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:97484694G>A	uc003uot.4	-	8	1614	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	ASNS_uc011kin.2_Missense_Mutation_p.L287F|ASNS_uc011kio.2_Missense_Mutation_p.L349F|ASNS_uc003uou.4_Missense_Mutation_p.L370F|ASNS_uc003uov.4_Missense_Mutation_p.L370F|ASNS_uc003uox.4_Missense_Mutation_p.L287F	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	370	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCTGCGTAAGTTCATCTGAT	0.338													A	97484694	G	A	97484694	3	1	25	1	0	0	0	0	1	0	0	0	1048	1029	36	3	597	3	ASNS	7	97484694	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	24204612	97484694	61653969	33	1561											
CNTNAP2	26047	broad.mit.edu	37	7	146997332	146997332	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:146997332G>A	uc003weu.2	+	8	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	483	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423										HNSCC(39;0.1)			A	146997332	G	A	146997332	3	1	25	1	0	0	0	0	1	0	0	0	3647	1058	37	2	1482	2	CNTNAP2	7	146997332	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	49512638	146997332	12141331	34	1562											
PTPRD	5789	broad.mit.edu	37	9	8633320	8633320	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:8633320G>A	uc003zkk.3	-	13	1092	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PTPRD_uc003zkp.3_Missense_Mutation_p.R117W|PTPRD_uc003zkq.3_Missense_Mutation_p.R117W|PTPRD_uc003zkr.3_Missense_Mutation_p.R117W|PTPRD_uc003zks.3_Missense_Mutation_p.R117W|PTPRD_uc022bdj.1_Missense_Mutation_p.R117W|PTPRD_uc003zkt.1_Missense_Mutation_p.R117W	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	117					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		CACTTACCCCGCAAAACTGTG	0.418										TSP Lung(15;0.13)			A	8633320	G	A	8633320	3	1	25	1	0	0	0	0	1	0	0	0	12799	1086	38	1	5589	1	PTPRD	9	8633320	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		8633320	132580111	35	1563											
NXNL2	158046	broad.mit.edu	37	9	91150637	91150637	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:91150637C>T	uc011ltj.2	+	0	622	c.288C>T	c.(286-288)caC>caT	p.H96H	NXNL2_uc004aqa.3_Silent_p.H96H	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN	Homo sapiens nucleoredoxin-like 2 (NXNL2), transcript variant 1, mRNA.	96	Thioredoxin.									lung(3)	3						TGCCCTTCCACGACCCCTACC	0.711													T	91150637	C	T	91150637	2	4	25	1	0	0	0	0	0	0	0	1	10789	535	19	1		1	NXNL2	9	91150637	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	82517317	91150637	50062794	36	1564											
CERCAM	51148	broad.mit.edu	37	9	131185156	131185156	+	Silent	SNP	G	G	A	rs147490658	by1000genomes	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:131185156G>A	uc004buz.4	+	1	605	c.207G>A	c.(205-207)acG>acA	p.T69T	CERCAM_uc004buy.1_5'UTR|CERCAM_uc010mxz.3_5'UTR|CERCAM_uc010mya.1_5'Flank	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	69					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGTGTGCCACGGACCACAATG	0.602													A	131185156	G	A	131185156	2	1	25	1	0	0	0	0	0	0	0	1	3266	1103	39	2		2	CERCAM	9	131185156	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	40034519	131185156	10028275	37	1565											
ARHGAP21	57584	broad.mit.edu	37	10	24889768	24889768	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:24889768G>C	uc001isb.2	-	13	3426	c.2939C>G	c.(2938-2940)aCg>aGg	p.T980R	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.T980R|ARHGAP21_uc010qdc.1_Missense_Mutation_p.T815R	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	979	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGACGGAGTCGTCTGCTCTCT	0.453													C	24889768	G	C	24889768	3	2	25	1	0	0	0	0	1	0	0	0	871	1145	40	5	2989	5	ARHGAP21	10	24889768	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		24889768	110644979	38	1566											
APBB1IP	54518	broad.mit.edu	37	10	26825105	26825105	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:26825105C>T	uc001iss.3	+	9	1324	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	APBB1IP_uc009xks.1_Missense_Mutation_p.R335W	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	335	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.R335W(2)|p.R335L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTTCTTTTACGGGCTTCTGG	0.338													T	26825105	C	T	26825105	3	4	25	1	0	0	0	0	1	0	0	0	760	527	19	1	1033	1	APBB1IP	10	26825105	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	1935337	26825105	108709642	39	1567											
ANK3	288	broad.mit.edu	37	10	61829891	61829891	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:61829891G>A	uc001jky.3	-	36	11086	c.10748C>T	c.(10747-10749)aCg>aTg	p.T3583M	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3583					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.T3583M(2)|p.T3583T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGGCTGGCGTTGTATCAGG	0.488													A	61829891	G	A	61829891	3	1	25	1	0	0	0	0	1	0	0	0	622	1145	40	1	2726	1	ANK3	10	61829891	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	35004786	61829891	73704856	40	1568											
OR5M3	219482	broad.mit.edu	37	11	56237372	56237372	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:56237372G>A	uc010rjk.2	-	0	643	c.602C>T	c.(601-603)gCc>gTc	p.A201V	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTTAATGCCGGCAAGTATGAT	0.413													A	56237372	G	A	56237372	3	1	25	1	0	0	0	0	1	0	0	0	11175	1203	42	3	323	3	OR5M3	11	56237372	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		56237372	78769144	41	1569											
OR9G4	283189	broad.mit.edu	37	11	56510792	56510792	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:56510792C>A	uc010rjo.2	-	0	496	c.496G>T	c.(496-498)Gga>Tga	p.G166*		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165T(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAAAATCCTCCTATGTAGGAG	0.453													A	56510792	C	A	56510792	4	1	25	1	0	0	0	0	0	1	0	0	11251	690	24	5	490	5	OR9G4	11	56510792	Nonsense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	273420	56510792	78495724	42	1570											
HNRNPUL2	221092	broad.mit.edu	37	11	62490074	62490074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:62490074G>A	uc001nuw.3	-	6	1324	c.1095_splice	c.e6+1	p.A365_splice	HNRNPUL2_uc001nuu.2_Splice_Site	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	365	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGCACTTACAGCAAAGCAGCC	0.458													A	62490074	G	A	62490074	3	1	25	1	0	0	0	0	1	0	0	0	7275	985	34	3	1185	3	HNRNPUL2	11	62490074	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	5979282	62490074	72516442	43	1571											
KLC2	64837	broad.mit.edu	37	11	66033175	66033175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:66033175C>T	uc010rov.1	+	11	1627	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	KLC2_uc010row.1_Nonsense_Mutation_p.Q462*|KLC2_uc001ohb.2_Nonsense_Mutation_p.Q462*|KLC2_uc010rox.1_Nonsense_Mutation_p.Q385*|KLC2_uc001ohc.2_Nonsense_Mutation_p.Q462*|KLC2_uc001ohd.2_Nonsense_Mutation_p.Q385*|KLC2_uc001ohe.1_Nonsense_Mutation_p.Q323*|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	462					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATACCGGCGCCAGGGCAAGCT	0.647													T	66033175	C	T	66033175	4	4	25	1	0	0	0	0	0	1	0	0	8334	595	21	3	1426	3	KLC2	11	66033175	Nonsense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	3543101	66033175	68973341	44	1572											
CHORDC1	26973	broad.mit.edu	37	11	89951306	89951306	+	Silent	SNP	T	T	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:89951306T>C	uc001pdg.2	-	1	521	c.111A>G	c.(109-111)ttA>ttG	p.L37L	CHORDC1_uc009yvz.2_Silent_p.L37L	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.	37	CHORD 1.|Interaction with PPP5C (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTCCTACCTTTAATGCATCGT	0.313													C	89951306	T	C	89951306	2	2	25	1	0	0	0	0	0	0	0	1	3365	1751	61	4		4	CHORDC1	11	89951306	Silent	SNP	T	TCGA-06-0154-01A-03D-1491-08	23918131	89951306	45055210	45	1573											
KLRK1	22914	broad.mit.edu	37	12	10525755	10525755	+	Silent	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:10525755A>G	uc009zhj.3	-	7	786	c.609T>C	c.(607-609)tgT>tgC	p.C203C	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Silent_p.C203C|KLRK1_uc009zhk.3_Silent_p.C203C|KLRK1_uc001qyd.3_Silent_p.C203C	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	203	C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTGGAGTTGAACAGTTTTCTA	0.388													G	10525755	A	G	10525755	2	3	25	1	0	0	0	0	0	0	0	1	8423	41	2	4		4	KLRK1	12	10525755	Silent	SNP	A	TCGA-06-0154-01A-03D-1491-08		10525755	123326140	46	1574											
PIK3C2G	5288	broad.mit.edu	37	12	18552608	18552608	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:18552608G>C	uc001rdt.3	+	14	2135	c.2019G>C	c.(2017-2019)aaG>aaC	p.K673N	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.K714N|PIK3C2G_uc010sic.2_Missense_Mutation_p.K492N	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	673					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGAAGAAAAGAAAAGATATT	0.378													C	18552608	G	C	18552608	3	2	25	1	0	0	0	0	1	0	0	0	11911	933	33	5	2073	5	PIK3C2G	12	18552608	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	8026853	18552608	115299287	47	1575											
OR6C74	254783	broad.mit.edu	37	12	55641790	55641790	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:55641790C>T	uc010spg.2	+	0	719	c.719C>T	c.(718-720)tCt>tTt	p.S240F		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTACATGTTCTTCCCACATG	0.373													T	55641790	C	T	55641790	3	4	25	1	0	0	0	0	1	0	0	0	11198	913	32	3	721	3	OR6C74	12	55641790	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	37089182	55641790	78210105	48	1576											
LRP1	4035	broad.mit.edu	37	12	57569290	57569290	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:57569290G>C	uc001snd.3	+	22	4061	c.3595G>C	c.(3595-3597)Gca>Cca	p.A1199P		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1199	EGF-like 5.				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			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)	CTGCTCAGTGGCACCTGGCGA	0.602											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	57569290	G	C	57569290	3	2	25	1	0	0	0	0	1	0	0	0	8951	1203	42	5	3685	5	LRP1	12	57569290	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	1927500	57569290	76282605	49	1577											
GALNT9	50614	broad.mit.edu	37	12	132682414	132682414	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:132682414C>T	uc001ukc.4	-	9	1704	c.1588G>A	c.(1588-1590)Ggc>Agc	p.G530S	GALNT9_uc009zyr.3_Missense_Mutation_p.G304S|GALNT9_uc001ukb.3_Missense_Mutation_p.G387S|GALNT9_uc001uka.3_Missense_Mutation_p.G164S	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	530	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CGGCCCGTGCCGTCATCCACC	0.657													T	132682414	C	T	132682414	3	4	25	1	0	0	0	0	1	0	0	0	6220	652	23	2	231	2	GALNT9	12	132682414	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	75113124	132682414	1169481	50	1578											
SYNE2	23224	broad.mit.edu	37	14	64457171	64457171	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr14:64457171A>G	uc001xgl.3	+	19	2586	c.2356A>G	c.(2356-2358)Aga>Gga	p.R786G	SYNE2_uc001xgm.3_Missense_Mutation_p.R786G|SYNE2_uc021ruh.1_Missense_Mutation_p.R786G	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	786					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			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)		GCTTATGGCAAGAAGTGAAGA	0.343													G	64457171	A	G	64457171	3	3	25	1	0	0	0	0	1	0	0	0	15443	64	3	4	2430	4	SYNE2	14	64457171	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08		64457171	42892369	51	1579											
GABRA5	2558	broad.mit.edu	37	15	27182399	27182399	+	Silent	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr15:27182399G>A	uc001zbd.2	+	7	1180	c.648G>A	c.(646-648)gcG>gcA	p.A216A	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Silent_p.A216A	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	216					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			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)	TGGTGGTGGCGGAAGATGGCT	0.577													A	27182399	G	A	27182399	2	1	25	1	0	0	0	0	0	0	0	1	6164	1103	39	2		2	GABRA5	15	27182399	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08		27182399	75348993	52	1580											
BAHD1	22893	broad.mit.edu	37	15	40751044	40751044	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr15:40751044C>T	uc001zlu.2	+	1	452	c.381C>T	c.(379-381)ctC>ctT	p.L127L	BAHD1_uc001zlt.2_Silent_p.L127L|BAHD1_uc010bbp.1_Silent_p.L127L|BAHD1_uc001zlv.2_Silent_p.L127L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	127					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTGAAGCTCTCAATAACCTGC	0.682													T	40751044	C	T	40751044	2	4	25	1	0	0	0	0	0	0	0	1	1297	813	29	3		3	BAHD1	15	40751044	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	13568645	40751044	61780348	53	1581											
CREBBP	1387	broad.mit.edu	37	16	3807844	3807844	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:3807844A>G	uc002cvv.3	-	17	3779	c.3575T>C	c.(3574-3576)gTc>gCc	p.V1192A	CREBBP_uc002cvw.3_Missense_Mutation_p.V1154A	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1192					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGACTGCATGACAGGGTCAAT	0.443			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						G	3807844	A	G	3807844	3	3	25	1	0	0	0	0	1	0	0	0	3861	275	10	4	3809	4	CREBBP	16	3807844	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08		3807844	86546909	54	1582											
XYLT1	64131	broad.mit.edu	37	16	17228564	17228564	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:17228564C>T	uc002dfa.3	-	8	1878	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	598					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.R598H(4)		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						TTCAAACTTGCGGGCAAAGAA	0.552													T	17228564	C	T	17228564	3	4	25	1	0	0	0	0	1	0	0	0	17460	768	27	1	1102	1	XYLT1	16	17228564	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	13420720	17228564	73126189	55	1583											
RLTPR	146206	broad.mit.edu	37	16	67683162	67683162	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:67683162delC	uc002etn.3	+	18	1814	c.1694delC	c.(1693-1695)accfs	p.T565fs	RLTPR_uc010cel.1_Frame_Shift_Del_p.T558fs|RLTPR_uc010vjr.2_Frame_Shift_Del_p.T529fs	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	565										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CACAGGGAGACCCTGGACGAC	0.637													-	67683162	C	-	67683162	7	5	25	1	0	1	0	1	0	0	0	0	13394	507	18	0	1768	0	RLTPR	16	67683162	Frame_Shift_Del	DEL	C	TCGA-06-0154-01A-03D-1491-08	50454598	67683162	22671591	56	1584											
ZNF23	7571	broad.mit.edu	37	16	71482423	71482423	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:71482423T>C	uc002faf.3	-	5	2319	c.1505A>G	c.(1504-1506)aAg>aGg	p.K502R	ZNF23_uc002fah.3_Missense_Mutation_p.K502R|ZNF23_uc002fad.3_Missense_Mutation_p.K444R|ZNF23_uc010vmf.2_Missense_Mutation_p.K444R|ZNF23_uc002fag.3_Missense_Mutation_p.K444R|ZNF23_uc002fai.3_Missense_Mutation_p.K541R	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTGATAGGGCTTTTCTCCAGT	0.403													C	71482423	T	C	71482423	3	2	25	1	0	0	0	0	1	0	0	0	17780	1609	56	4	430	4	ZNF23	16	71482423	Missense_Mutation	SNP	T	TCGA-06-0154-01A-03D-1491-08	3799261	71482423	18872330	57	1585											
MYH2	4620	broad.mit.edu	37	17	10428788	10428788	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:10428788C>T	uc010coi.3	-	31	4645	c.4517G>A	c.(4516-4518)cGa>cAa	p.R1506Q	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1506Q|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1506					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1506Q(2)|p.R1506*(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						TTTGTTCTCTCGCTTCAGGGT	0.428													T	10428788	C	T	10428788	3	4	25	1	0	0	0	0	1	0	0	0	10035	884	31	2	1344	2	MYH2	17	10428788	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08		10428788	70766422	58	1586											
MYH2	4620	broad.mit.edu	37	17	10442604	10442604	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:10442604C>T	uc010coi.3	-	13	1462	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R445H|MYH2_uc010coj.3_Missense_Mutation_p.R445H	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	445	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R445H(6)		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						CTGGTTGATGCGGGCAACCAT	0.473													T	10442604	C	T	10442604	3	4	25	1	0	0	0	0	1	0	0	0	10035	768	27	1	4599	1	MYH2	17	10442604	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	13816	10442604	70752606	59	1587											
GAS2L2	246176	broad.mit.edu	37	17	34074267	34074267	+	Silent	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:34074267G>A	uc002hjv.2	-	4	881	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	285					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGGCTTCAGGAAGCTGCCT	0.597													A	34074267	G	A	34074267	2	1	25	1	0	0	0	0	0	0	0	1	6247	991	35	3		3	GAS2L2	17	34074267	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	23631663	34074267	47120943	60	1588											
KRT33B	3884	broad.mit.edu	37	17	39522870	39522870	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:39522870G>A	uc002hwl.3	-	2	485	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	147	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGACTGCTCCGTCTGGTACCT	0.517													A	39522870	G	A	39522870	3	1	25	1	0	0	0	0	1	0	0	0	8470	1145	40	1	794	1	KRT33B	17	39522870	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	5448603	39522870	41672340	61	1589											
KRT34	3885	broad.mit.edu	37	17	39535941	39535941	+	Missense_Mutation	SNP	C	C	T	rs140296098	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:39535941C>T	uc002hwm.3	-	3	769	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	253	Linker 12.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.552													T	39535941	C	T	39535941	3	4	25	1	0	0	0	0	1	0	0	0	8471	536	19	1	569	1	KRT34	17	39535941	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	13071	39535941	41659269	62	1590											
OTOP3	347741	broad.mit.edu	37	17	72937902	72937902	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:72937902G>A	uc010wrr.2	+	1	488	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	OTOP3_uc010wrq.2_Missense_Mutation_p.R145Q	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	163						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTCTGGGTGCGGGGTGAGTGT	0.687													A	72937902	G	A	72937902	3	1	25	1	0	0	0	0	1	0	0	0	11307	1116	39	2	494	2	OTOP3	17	72937902	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	33401961	72937902	8257308	63	1591											
ZFR2	23217	broad.mit.edu	37	19	3825291	3825291	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:3825291C>T	uc002lyw.2	-	6	1162	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	ZFR2_uc010xhx.1_Intron	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	384						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GAGGCACACACGCTGGGGCCA	0.672													T	3825291	C	T	3825291	3	4	25	1	0	0	0	0	1	0	0	0	17657	536	19	1	1721	1	ZFR2	19	3825291	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08		3825291	55303692	64	1592											
OR7D2	162998	broad.mit.edu	37	19	9297245	9297245	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:9297245C>T	uc002mkz.1	+	0	976	c.788C>T	c.(787-789)gCg>gTg	p.A263V		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	263					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A263V(2)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTCACTTCTGCGGTGACTCAC	0.507													T	9297245	C	T	9297245	3	4	25	1	0	0	0	0	1	0	0	0	11219	768	27	1	790	1	OR7D2	19	9297245	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	5471954	9297245	49831738	65	1593											
TRMT1	55621	broad.mit.edu	37	19	13218442	13218442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:13218442C>T	uc002mwj.2	-	12	1779	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	TRMT1_uc010xmy.1_Missense_Mutation_p.R114Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R481Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R510Q|TRMT1_uc010xmz.1_Missense_Mutation_p.R296Q	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	510							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TAGTCGCTCCCGTTTCACCGG	0.617													T	13218442	C	T	13218442	3	4	25	1	0	0	0	0	1	0	0	0	16558	652	23	2	466	2	TRMT1	19	13218442	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	3921197	13218442	45910541	66	1594											
NLRP2	55655	broad.mit.edu	37	19	55494686	55494686	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:55494686C>T	uc021vbq.1	+	5	1731	c.1620C>T	c.(1618-1620)tcC>tcT	p.S540S	NLRP2_uc010yfp.2_Silent_p.S517S|NLRP2_uc002qij.3_Silent_p.S540S|NLRP2_uc010esp.3_Silent_p.S518S|NLRP2_uc010esn.3_Silent_p.S516S|NLRP2_uc010eso.3_Silent_p.S537S	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	540					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGCTGCTTTCCGGAGTAGAAA	0.552													T	55494686	C	T	55494686	2	4	25	1	0	0	0	0	0	0	0	1	10477	639	23	2		2	NLRP2	19	55494686	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	42276244	55494686	3634297	67	1595											
PDYN	5173	broad.mit.edu	37	20	1961100	1961100	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:1961100G>A	uc010gaj.3	-	2	876	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.R212W|PDYN_uc021vzt.1_Missense_Mutation_p.R212W|PDYN_uc021vzu.1_Missense_Mutation_p.R212W|PDYN_uc002wfv.3_Missense_Mutation_p.R212W	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	212			R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).		cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGAATGCGCCGCAAGAAGCCC	0.587													A	1961100	G	A	1961100	3	1	25	1	0	0	0	0	1	0	0	0	11699	1086	38	1	134	1	PDYN	20	1961100	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		1961100	61064420	68	1596											
SPAG4	6676	broad.mit.edu	37	20	34206631	34206631	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:34206631G>A	uc002xdb.1	+	6	823	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	SPAG4_uc010zvi.1_Missense_Mutation_p.A159T	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	236					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGTTCGGGCAGCCAACAGCGA	0.642													A	34206631	G	A	34206631	3	1	25	1	0	0	0	0	1	0	0	0	14980	971	34	3	732	3	SPAG4	20	34206631	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	32245531	34206631	28818889	69	1597											
PCIF1	63935	broad.mit.edu	37	20	44571848	44571848	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:44571848C>T	uc002xqs.3	+	7	1100	c.786C>T	c.(784-786)tcC>tcT	p.S262S	PCIF1_uc002xqt.3_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	262						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGTCACCTTCCATGTTTCGTG	0.527													T	44571848	C	T	44571848	2	4	25	1	0	0	0	0	0	0	0	1	11580	581	21	3		3	PCIF1	20	44571848	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	10365217	44571848	18453672	70	1598											
RIPK4	54101	broad.mit.edu	37	21	43161994	43161994	+	Silent	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr21:43161994G>A	uc002yzn.1	-	7	1407	c.1359C>T	c.(1357-1359)tgC>tgT	p.C453C		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	453						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.C453C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCACTTGGCGCACTCCTCTT	0.657													A	43161994	G	A	43161994	2	1	25	1	0	0	0	0	0	0	0	1	13383	1079	38	1		1	RIPK4	21	43161994	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08		43161994	4967901	71	1599											
SLC5A4	6527	broad.mit.edu	37	22	32650199	32650199	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:32650199G>A	uc003ami.3	-	2	138	c.136_splice	c.e2-1	p.A46_splice		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	46			A -> T (in dbSNP:rs2235171).		carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTCAGCATCGCCTGAGCAGA	0.572													A	32650199	G	A	32650199	3	1	25	1	0	0	0	0	1	0	0	0	14667	1101	38	1	1898	1	SLC5A4	22	32650199	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		32650199	18654367	72	1600											
ISX	91464	broad.mit.edu	37	22	35480407	35480407	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:35480407G>A	uc003anj.3	+	2	1364	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	138						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCCAAGTGGCGGAAGCAGGAG	0.537													A	35480407	G	A	35480407	3	1	25	1	0	0	0	0	1	0	0	0	7865	1116	39	2	423	2	ISX	22	35480407	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	2830208	35480407	15824159	73	1601											
SGSM3	27352	broad.mit.edu	37	22	40803235	40803235	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:40803235A>G	uc003ayu.1	+	11	1480	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R	SGSM3_uc011aos.1_Missense_Mutation_p.K357R|SGSM3_uc011aot.1_Missense_Mutation_p.K361R	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	424					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTCAAGGCCAAGAACATCAAG	0.627													G	40803235	A	G	40803235	3	3	25	1	0	0	0	0	1	0	0	0	14224	72	3	4	1313	4	SGSM3	22	40803235	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08	5322828	40803235	10501331	74	1602											
ELF4	2000	broad.mit.edu	37	X	129200915	129200915	+	Silent	SNP	C	C	T			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chrX:129200915C>T	uc004evd.4	-	8	2158	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	ELF4_uc004eve.4_Silent_p.P591P	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	591					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGAAGGCTCGGATTGTGGG	0.607			T	ERG	AML								T	129200915	C	T	129200915	2	4	25	1	0	0	0	0	0	0	0	1	5056	871	31	2		2	ELF4	23	129200915	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08		129200915	26069645	75	1603											
CLCNKA	1188	broad.mit.edu	37	1	16378751	16378751	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:16378751C>T	uc001axx.4	+	14	1603	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	CLCNKA_uc021ogl.1_Silent_p.F136F|CLCNKA_uc021ogm.1_Silent_p.F320F|CLCNKA_uc001axy.4_Silent_p.F320F	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	489					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGCTGGCCTTCGAGGTGACCG	0.657													T	16378751	C	T	16378751	2	4	26	1	0	0	0	0	0	0	0	1	3469	883	31	2		2	CLCNKA	1	16378751	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08		16378751	232871870	1	1604											
KLF17	128209	broad.mit.edu	37	1	44595217	44595217	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:44595217C>T	uc001clp.3	+	1	332	c.274C>T	c.(274-276)Cca>Tca	p.P92S	KLF17_uc009vxf.1_Missense_Mutation_p.P55S	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	92					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTTCAGTATGCCACTGCCTGA	0.567													T	44595217	C	T	44595217	3	4	26	1	0	0	0	0	1	0	0	0	8345	739	26	3	280	3	KLF17	1	44595217	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	28216466	44595217	204655404	2	1605											
TESK2	10420	broad.mit.edu	37	1	45923297	45923297	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:45923297G>A	uc001cns.1	-	1	564	c.161C>T	c.(160-162)aCg>aTg	p.T54M	TESK2_uc009vxr.1_Missense_Mutation_p.T54M|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Missense_Mutation_p.T54M	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	54					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATCCAAACGCGTCAGTCTGGA	0.453													A	45923297	G	A	45923297	3	1	26	1	0	0	0	0	1	0	0	0	15765	1145	40	1	1594	1	TESK2	1	45923297	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	1328080	45923297	203327324	3	1606											
AP4B1	10717	broad.mit.edu	37	1	114438528	114438528	+	Missense_Mutation	SNP	G	G	A	rs149723440		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:114438528G>A	uc001eeb.3	-	8	1829	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Missense_Mutation_p.P380L|AP4B1_uc010owp.2_Missense_Mutation_p.P449L|AP4B1_uc001eed.3_Missense_Mutation_p.P548L|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.P75L	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	548					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.P548P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTTCTGCCGGATCCTCCAA	0.498													A	114438528	G	A	114438528	3	1	26	1	0	0	0	0	1	0	0	0	751	1116	39	2	584	2	AP4B1	1	114438528	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	68515231	114438528	134812093	4	1607											
SPTA1	6708	broad.mit.edu	37	1	158653172	158653172	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:158653172C>G	uc001fst.1	-	2	578	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	127				Missing (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCGTTTCTTCGTGGGCAGAA	0.388													G	158653172	C	G	158653172	3	3	26	1	0	0	0	0	1	0	0	0	15115	893	31	5	7080	5	SPTA1	1	158653172	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	44214644	158653172	90597449	5	1608											
ANGPTL1	9068	broad.mit.edu	37	1	178834371	178834371	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:178834371A>G	uc001gma.3	-	2	1017	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.S181P|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S103P	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	181						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCAGTCAAGGAAGCGTATTTC	0.423													G	178834371	A	G	178834371	3	3	26	1	0	0	0	0	1	0	0	0	613	246	9	4	950	4	ANGPTL1	1	178834371	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	20181199	178834371	70416250	6	1609											
OBSCN	84033	broad.mit.edu	37	1	228431145	228431145	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:228431145G>T	uc009xez.1	+	9	3235	c.3191G>T	c.(3190-3192)cGc>cTc	p.R1064L	OBSCN_uc001hsn.3_Missense_Mutation_p.R1064L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1064	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCTCCTTCCGCCTGCACATC	0.552													T	228431145	G	T	228431145	3	4	26	1	0	0	0	0	1	0	0	0	10812	1087	38	5	3225	5	OBSCN	1	228431145	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	49596774	228431145	20819476	7	1610											
OBSCN	84033	broad.mit.edu	37	1	228557713	228557713	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:228557713G>A	uc009xez.1	+	90	20082	c.20038G>A	c.(20038-20040)Gtg>Atg	p.V6680M	OBSCN_uc001hsr.1_Missense_Mutation_p.V1309M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6680	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGGGCGCGTGTCATGGAG	0.642													A	228557713	G	A	228557713	3	1	26	1	0	0	0	0	1	0	0	0	10812	1145	40	1	21606	1	OBSCN	1	228557713	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	126568	228557713	20692908	8	1611											
CHRM3	1131	broad.mit.edu	37	1	240072235	240072235	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:240072235C>T	uc021plc.1	+	0	1484	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	CHRM3_uc001hyp.3_Missense_Mutation_p.A495V	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	495					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			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)	ACCCTCAGTGCGATCTTGCTT	0.493													T	240072235	C	T	240072235	3	4	26	1	0	0	0	0	1	0	0	0	3378	768	27	1	1486	1	CHRM3	1	240072235	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	11514522	240072235	9178386	9	1612											
HNRNPU	3192	broad.mit.edu	37	1	245022048	245022050	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:245022048_245022050delCAT	uc001iaz.1	-	5	1429_1431	c.1211_1213delATG	c.(1210-1215)gatgtg>gtg	p.D404del	HNRNPU_uc001iay.1_In_Frame_Del_p.D128del|HNRNPU_uc001iba.1_In_Frame_Del_p.D385del	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	404	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATGTAATCACATCATTTTCATC	0.31													-	245022050	CAT	-	245022048	7	5	26	1	0	1	0	1	0	0	0	0	7273	478	17	0	1300	0	HNRNPU	1	245022048	In_Frame_Del	DEL	CAT	TCGA-06-0155-01B-01D-1492-08	4949813	245022048	4228573	10	1613											
CAPN13	92291	broad.mit.edu	37	2	30966369	30966369	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:30966369C>T	uc021vfn.1	-	11	1357	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.R438H|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	442					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAAGTTGCGGCGGAATTTATT	0.463													T	30966369	C	T	30966369	3	4	26	1	0	0	0	0	1	0	0	0	2626	768	27	1	724	1	CAPN13	2	30966369	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		30966369	212233004	11	1614											
LHCGR	3973	broad.mit.edu	37	2	48915170	48915170	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:48915170G>A	uc002rwu.4	-	10	1836	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	589					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCTGAGATGGCAAAAAAAGA	0.383													A	48915170	G	A	48915170	3	1	26	1	0	0	0	0	1	0	0	0	8762	1203	42	3	337	3	LHCGR	2	48915170	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	17948801	48915170	194284203	12	1615											
DYSF	8291	broad.mit.edu	37	2	71871111	71871111	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:71871111A>C	uc010fen.3	+	41	4685	c.4544A>C	c.(4543-4545)gAt>gCt	p.D1515A	DYSF_uc010fei.3_Missense_Mutation_p.D1493A|DYSF_uc010feh.3_Missense_Mutation_p.D1483A|DYSF_uc002sig.4_Missense_Mutation_p.D1462A|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D1507A|DYSF_uc010fee.3_Missense_Mutation_p.D1497A|DYSF_uc010fef.3_Missense_Mutation_p.D1514A|DYSF_uc002sie.3_Missense_Mutation_p.D1476A|DYSF_uc010feo.3_Missense_Mutation_p.D1508A|DYSF_uc010fej.3_Missense_Mutation_p.D1484A|DYSF_uc010fel.3_Missense_Mutation_p.D1463A|DYSF_uc010fem.3_Missense_Mutation_p.D1498A|DYSF_uc002sif.3_Missense_Mutation_p.D1477A|DYSF_uc010fek.3_Missense_Mutation_p.D1494A|DYSF_uc010yqy.2_Missense_Mutation_p.D357A|DYSF_uc010yqz.2_Missense_Mutation_p.D237A	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1476						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGTTCATCGATTGGTGGAGC	0.502													C	71871111	A	C	71871111	3	2	26	1	0	0	0	0	1	0	0	0	4859	333	12	5	4848	5	DYSF	2	71871111	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	22955941	71871111	171328262	13	1616											
SCN9A	6335	broad.mit.edu	37	2	167085353	167085353	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:167085353T>A	uc010fpl.3	-	21	4362	c.4021A>T	c.(4021-4023)Aac>Tac	p.N1341Y	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1352						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTGTGGTGTTAATACACTCA	0.403													A	167085353	T	A	167085353	3	1	26	1	0	0	0	0	1	0	0	0	13925	1754	61	5	1936	5	SCN9A	2	167085353	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	95214242	167085353	76114020	14	1617											
TTN	7273	broad.mit.edu	37	2	179437058	179437058	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:179437058T>C	uc021vsy.1	-	274	66322	c.66097A>G	c.(66097-66099)Att>Gtt	p.I22033V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I15728V|TTN_uc021vta.1_Missense_Mutation_p.I15661V|TTN_uc021vtb.1_Missense_Mutation_p.I15536V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22960	Ig-like 115.						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)			GGCAGCCCAATGCCATATTCA	0.448													C	179437058	T	C	179437058	3	2	26	1	0	0	0	0	1	0	0	0	16732	1464	51	4	34326	4	TTN	2	179437058	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	12351705	179437058	63762315	15	1618											
CDHR4	389118	broad.mit.edu	37	3	49836331	49836331	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:49836331C>T	uc010hkz.3	-	3	432	c.423G>A	c.(421-423)gtG>gtA	p.V141V	CDHR4_uc003cxp.2_Missense_Mutation_p.A167T|CDHR4_uc011bcw.2_Silent_p.V141V	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.	141					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CTGTCTCTGGCACCTGAATCA	0.652													T	49836331	C	T	49836331	2	4	26	1	0	0	0	0	0	0	0	1	3121	697	25	3		3	CDHR4	3	49836331	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08		49836331	148186099	16	1619											
STAB1	23166	broad.mit.edu	37	3	52554842	52554842	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:52554842G>A	uc003dej.3	+	54	5803	c.5729G>A	c.(5728-5730)cGc>cAc	p.R1910H	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1910					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCTGCTGGCGCTTCTACCCG	0.662													A	52554842	G	A	52554842	3	1	26	1	0	0	0	0	1	0	0	0	15236	1087	38	1	5947	1	STAB1	3	52554842	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	2718511	52554842	145467588	17	1620											
PROS1	5627	broad.mit.edu	37	3	93603713	93603713	+	Nonsense_Mutation	SNP	G	G	A	rs5017717		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:93603713G>A	uc003drb.4	-	11	1692	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	PROS1_uc010hoo.3_Nonsense_Mutation_p.R320*|PROS1_uc003dqz.4_Nonsense_Mutation_p.R320*	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	451	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			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)	TTCCAGCTTCGTATACATCCA	0.358													A	93603713	G	A	93603713	4	1	26	1	0	0	0	0	0	1	0	0	12558	1153	40	1	695	1	PROS1	3	93603713	Nonsense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	41048871	93603713	104418717	18	1621											
ZIC1	7545	broad.mit.edu	37	3	147130368	147130368	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:147130368G>A	uc003ewe.3	+	1	1765	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	349					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.D348N(2)		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						AGCAGCGACCGCAAGAAGCAC	0.542													A	147130368	G	A	147130368	3	1	26	1	0	0	0	0	1	0	0	0	17675	1087	38	1	1052	1	ZIC1	3	147130368	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	53526655	147130368	50892062	19	1622											
SULT1B1	27284	broad.mit.edu	37	4	70596339	70596339	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:70596339T>G	uc003hen.3	-	6	956	c.658A>C	c.(658-660)Atc>Ctc	p.I220L		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	220					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CTATCCAAGATCTCATCATTC	0.363													G	70596339	T	G	70596339	3	3	26	1	0	0	0	0	1	0	0	0	15373	1435	50	5	240	5	SULT1B1	4	70596339	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08		70596339	120557937	20	1623											
BMP3	651	broad.mit.edu	37	4	81967402	81967402	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:81967402A>G	uc003hmg.4	+	1	1147	c.827A>G	c.(826-828)cAc>cGc	p.H276R		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	276					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGGGATAGCCACATCAGAGCT	0.517													G	81967402	A	G	81967402	3	3	26	1	0	0	0	0	1	0	0	0	1461	159	6	4	833	4	BMP3	4	81967402	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	11371063	81967402	109186874	21	1624											
QRFPR	84109	broad.mit.edu	37	4	122254151	122254151	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:122254151G>A	uc010inj.1	-	3	1001	c.622C>T	c.(622-624)Cct>Tct	p.P208S	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.P208S	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	208						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGGTGCACAGGGCTGGTCCAC	0.388													A	122254151	G	A	122254151	3	1	26	1	0	0	0	0	1	0	0	0	12878	1232	43	3	685	3	QRFPR	4	122254151	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	40286749	122254151	68900125	22	1625											
CARD6	84674	broad.mit.edu	37	5	40853779	40853779	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:40853779G>A	uc003jmg.3	+	2	2420	c.2345G>A	c.(2344-2346)aGt>aAt	p.S782N		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	782					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CGAGGTAAAAGTTTTGGTATT	0.488													A	40853779	G	A	40853779	3	1	26	1	0	0	0	0	1	0	0	0	2650	1029	36	3	2355	3	CARD6	5	40853779	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		40853779	140061481	23	1626											
ADAMTS6	11174	broad.mit.edu	37	5	64766854	64766854	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:64766854C>T	uc003jtp.3	-	2	1027	c.213G>A	c.(211-213)cgG>cgA	p.R71R	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	71					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGTCCATACTCCGTCTTCTCC	0.383													T	64766854	C	T	64766854	2	4	26	1	0	0	0	0	0	0	0	1	270	842	30	3		3	ADAMTS6	5	64766854	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	23913075	64766854	116148406	24	1627											
MAP1B	4131	broad.mit.edu	37	5	71494069	71494069	+	Silent	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:71494069A>G	uc003kbw.4	+	4	5128	c.4887A>G	c.(4885-4887)gcA>gcG	p.A1629A	MAP1B_uc010iyw.1_Silent_p.A1646A|MAP1B_uc010iyx.1_Silent_p.A1503A|MAP1B_uc010iyy.1_Silent_p.A1503A	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1629						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTAAAACTGCAAAGTCCAGGA	0.438													G	71494069	A	G	71494069	2	3	26	1	0	0	0	0	0	0	0	1	9228	117	5	4		4	MAP1B	5	71494069	Silent	SNP	A	TCGA-06-0155-01B-01D-1492-08	6727215	71494069	109421191	25	1628											
PCDHGC5	5098	broad.mit.edu	37	5	140857767	140857770	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:140857767_140857770delTTCT	uc003lkv.2	+	0	2199_2202	c.2084_2087delTTCT	c.(2083-2088)cttcttfs	p.L695fs	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Frame_Shift_Del_p.L695fs|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I695N(1)		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)			TTTTATCTACTTCTTTCTCTAATC	0.49											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	140857770	TTCT	-	140857767	7	5	26	1	0	1	0	1	0	0	0	0	11571	1609	56	0		0	PCDHGC5	5	140857767	Frame_Shift_Del	DEL	TTCT	TCGA-06-0155-01B-01D-1492-08	69363698	140857767	40057493	26	1629											
SGCD	6444	broad.mit.edu	37	5	155935645	155935645	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:155935645G>T	uc003lwc.4	+	3	746	c.227G>T	c.(226-228)gGt>gTt	p.G76V	SGCD_uc003lwa.1_Missense_Mutation_p.G76V|SGCD_uc003lwb.3_Missense_Mutation_p.G76V|SGCD_uc003lwd.4_Missense_Mutation_p.G75V	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	75					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGAAAAAGGTCTAAAGCTA	0.418													T	155935645	G	T	155935645	3	4	26	1	0	0	0	0	1	0	0	0	14201	1261	44	5	237	5	SGCD	5	155935645	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	15077878	155935645	24979615	27	1630											
FLT4	2324	broad.mit.edu	37	5	180048669	180048669	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:180048669C>T	uc003mlz.4	-	12	1972	c.1893G>A	c.(1891-1893)gcG>gcA	p.A631A	FLT4_uc003mma.4_Silent_p.A631A|FLT4_uc003mmb.1_Silent_p.A164A|FLT4_uc011dgy.2_Silent_p.A631A	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	631	Ig-like C2-type 6.				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)	TGGCGTGGCGCGCCCCAGGTG	0.672													T	180048669	C	T	180048669	2	4	26	1	0	0	0	0	0	0	0	1	5944	755	27	1		1	FLT4	5	180048669	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	24113024	180048669	866591	28	1631											
ITPR3	3710	broad.mit.edu	37	6	33653882	33653882	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:33653882C>T	uc021ywr.1	+	41	5944	c.5720C>T	c.(5719-5721)aCg>aTg	p.T1907M		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1907					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTATGCGAGACGCTGCAGTTC	0.592													T	33653882	C	T	33653882	3	4	26	1	0	0	0	0	1	0	0	0	7922	536	19	1	5886	1	ITPR3	6	33653882	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		33653882	137461185	29	1632											
GLP1R	2740	broad.mit.edu	37	6	39024212	39024212	+	Nonsense_Mutation	SNP	C	C	T	rs141990898		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:39024212C>T	uc003ooj.4	+	1	178	c.118C>T	c.(118-120)Cga>Tga	p.R40*	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	40					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	p.R40*(2)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCAGAAATGGCGAGAATACCG	0.632													T	39024212	C	T	39024212	4	4	26	1	0	0	0	0	0	1	0	0	6452	760	27	1	124	1	GLP1R	6	39024212	Nonsense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	5370330	39024212	132090855	30	1633											
DST	667	broad.mit.edu	37	6	56505355	56505355	+	Silent	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:56505355A>G	uc003pcy.4	-	3	573	c.465T>C	c.(463-465)tcT>tcC	p.S155S	DST_uc021zay.1_Silent_p.S521S|DST_uc011dxl.1_Silent_p.S510S|DST_uc021zax.1_Silent_p.S155S|DST_uc003pdc.4_Silent_p.S155S|DST_uc003pdd.4_Silent_p.S155S|DST_uc003pde.2_Silent_p.S597S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	481	Actin-binding.|CH 2.				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.S155P(1)		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)			TGTACACAGAAGAACATTCGT	0.393													G	56505355	A	G	56505355	2	3	26	1	0	0	0	0	0	0	0	1	4783	59	3	4		4	DST	6	56505355	Silent	SNP	A	TCGA-06-0155-01B-01D-1492-08	17481143	56505355	114609712	31	1634											
HSF2	3298	broad.mit.edu	37	6	122744040	122744040	+	Silent	SNP	C	C	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:122744040C>A	uc003pyu.2	+	8	1195	c.1008C>A	c.(1006-1008)acC>acA	p.T336T	HSF2_uc003pyv.2_Silent_p.T336T	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	336					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CCAGTCTGACCTCAGAAGATC	0.433													A	122744040	C	A	122744040	2	1	26	1	0	0	0	0	0	0	0	1	7396	668	24	5		5	HSF2	6	122744040	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	66238685	122744040	48371027	32	1635											
QKI	9444	broad.mit.edu	37	6	163899861	163899861	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:163899861A>C	uc003qui.3	+	2	886	c.335A>C	c.(334-336)cAa>cCa	p.Q112P	QKI_uc003quj.3_Missense_Mutation_p.Q112P|QKI_uc003quh.3_Missense_Mutation_p.Q112P|QKI_uc003que.3_Missense_Mutation_p.Q112P|QKI_uc003quf.3_Missense_Mutation_p.Q112P|QKI_uc003qug.3_Missense_Mutation_p.Q112P	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	112	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ACAGCCAAACAACTTGAAGCA	0.368													C	163899861	A	C	163899861	3	2	26	1	0	0	0	0	1	0	0	0	12873	130	5	5	345	5	QKI	6	163899861	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	41155821	163899861	7215206	33	1636											
HNRNPA2B1	3181	broad.mit.edu	37	7	26236176	26236178	+	Splice_Site	DEL	CCT	CCT	-			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:26236176_26236178delCCT	uc003sxr.4	-	6	829	c.613_splice	c.e6+1	p.G205_splice	HNRNPA2B1_uc003sxs.4_Splice_Site_p.G193_splice	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	205	Gly-rich.			G -> S (in Ref. 4; BAF82118).	RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATTAAAATTACCTCCTCTTCCAC	0.379			T	ETV1	prostate								-	26236178	CCT	-	26236176	8	5	26	1	0	1	0	1	0	0	1	0	7259	521	18	0	471	0	HNRNPA2B1	7	26236176	Splice_Site	DEL	CCT	TCGA-06-0155-01B-01D-1492-08		26236176	132902487	34	1637											
EGFR	1956	broad.mit.edu	37	7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:55223543C>T	uc003tqk.3	+	7	1156	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	304					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGACAGATCACGGCTCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55223543	C	T	55223543	3	4	26	1	0	0	0	0	1	0	0	0	4967	826	29	3	940	3	EGFR	7	55223543	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	28987367	55223543	103915120	35	1638											
TPST1	8460	broad.mit.edu	37	7	65751542	65751542	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:65751542G>A	uc003tuw.3	+	2	1242	c.890G>A	c.(889-891)gGa>gAa	p.G297E	TPST1_uc010kzy.2_Non-coding_Transcript	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	297					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTCAATGTAGGAGCTCTATCA	0.373													A	65751542	G	A	65751542	3	1	26	1	0	0	0	0	1	0	0	0	16424	1174	41	3	896	3	TPST1	7	65751542	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	10527999	65751542	93387121	36	1639											
SRPK2	6733	broad.mit.edu	37	7	104782641	104782641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:104782641G>A	uc003vct.3	-	9	1511	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	SRPK2_uc003vcu.3_Nonsense_Mutation_p.R442*|SRPK2_uc003vcv.3_Nonsense_Mutation_p.R453*|SRPK2_uc003vcw.1_Nonsense_Mutation_p.R442*	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	442	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTTTATGTCGTCCATTTGGC	0.448													A	104782641	G	A	104782641	4	1	26	1	0	0	0	0	0	1	0	0	15159	1153	40	1	766	1	SRPK2	7	104782641	Nonsense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	39031099	104782641	54356022	37	1640											
GPR37	2861	broad.mit.edu	37	7	124404927	124404927	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:124404927C>G	uc003vli.3	-	0	755	c.104G>C	c.(103-105)aGa>aCa	p.R35T		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	35						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTTTCGTTTCTGGACGCAGG	0.647													G	124404927	C	G	124404927	3	3	26	1	0	0	0	0	1	0	0	0	6691	913	32	5	1745	5	GPR37	7	124404927	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	19622286	124404927	34733736	38	1641											
FGL1	2267	broad.mit.edu	37	8	17726189	17726189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:17726189G>A	uc003wye.3	-	8	1463	c.797C>T	c.(796-798)gCg>gTg	p.A266V	FGL1_uc003wxx.3_Missense_Mutation_p.A216V|FGL1_uc003wxy.3_Missense_Mutation_p.A216V|FGL1_uc003wya.3_Missense_Mutation_p.A216V|FGL1_uc003wyb.3_Missense_Mutation_p.A216V	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	216	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding	p.L266L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		AAAATTCCCCGCAAGGGAATC	0.453													A	17726189	G	A	17726189	3	1	26	1	0	0	0	0	1	0	0	0	5872	1087	38	1	299	1	FGL1	8	17726189	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		17726189	128637833	39	1642											
DOCK5	80005	broad.mit.edu	37	8	25222153	25222153	+	Missense_Mutation	SNP	G	G	A	rs148483229	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:25222153G>A	uc003xeg.3	+	29	3193	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R733H|DOCK5_uc003xei.3_Missense_Mutation_p.R589H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1019						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTTTTCTCCGTGCTATAAAT	0.413													A	25222153	G	A	25222153	3	1	26	1	0	0	0	0	1	0	0	0	4690	1145	40	1	3174	1	DOCK5	8	25222153	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	7495964	25222153	121141869	40	1643											
PCMTD1	115294	broad.mit.edu	37	8	52733157	52733157	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:52733157C>A	uc003xqx.4	-	5	1169	c.828G>T	c.(826-828)agG>agT	p.R276S	PCMTD1_uc011ldm.2_Missense_Mutation_p.R146S|PCMTD1_uc011ldn.2_Missense_Mutation_p.R88S|PCMTD1_uc010lya.3_Missense_Mutation_p.R200S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	276						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTTTCTTTTCCTTTTGGGTG	0.408													A	52733157	C	A	52733157	3	1	26	1	0	0	0	0	1	0	0	0	11586	854	30	5	249	5	PCMTD1	8	52733157	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	27511004	52733157	93630865	41	1644											
STK3	6788	broad.mit.edu	37	8	99718703	99718703	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:99718703G>C	uc003yio.3	-	7	1234	c.760C>G	c.(760-762)Cca>Gca	p.P254A	STK3_uc003yip.3_Missense_Mutation_p.P226A|STK3_uc010mbm.1_Intron	NM_006281	NP_006272	Q13188	STK3_HUMAN	Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA.	226	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACCCTCATTGGATGTATATCA	0.348													C	99718703	G	C	99718703	3	2	26	1	0	0	0	0	1	0	0	0	15294	1174	41	5	823	5	STK3	8	99718703	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	46985546	99718703	46645319	42	1645											
ATAD2	29028	broad.mit.edu	37	8	124358469	124358469	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:124358469T>C	uc003yqh.4	-	17	2497	c.2389A>G	c.(2389-2391)Ata>Gta	p.I797V	ATAD2_uc011lii.2_Missense_Mutation_p.I588V|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.I797V	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTCCTACTATCAATATTCTT	0.353													C	124358469	T	C	124358469	3	2	26	1	0	0	0	0	1	0	0	0	1071	1435	50	4	1827	4	ATAD2	8	124358469	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	24639766	124358469	22005553	43	1646											
SPATC1	375686	broad.mit.edu	37	8	145095497	145095497	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:145095497G>A	uc011lkw.2	+	2	897	c.795G>A	c.(793-795)tcG>tcA	p.S265S	SPATC1_uc011lkx.2_Silent_p.S265S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	265										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCCAGTCGACCCAGGACC	0.617													A	145095497	G	A	145095497	2	1	26	1	0	0	0	0	0	0	0	1	15016	1045	37	2		2	SPATC1	8	145095497	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	20737028	145095497	1268525	44	1647											
PRKCQ	5588	broad.mit.edu	37	10	6553040	6553040	+	Missense_Mutation	SNP	C	C	T	rs148376969		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:6553040C>T	uc001iji.1	-	1	418	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	PRKCQ_uc001ijj.2_Missense_Mutation_p.V79M|PRKCQ_uc009xim.2_Missense_Mutation_p.V79M|PRKCQ_uc009xin.2_Missense_Mutation_p.V43M|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	79	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.Q112E(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATGAGGTCCACGTTTTTGCCT	0.478													T	6553040	C	T	6553040	3	4	26	1	0	0	0	0	1	0	0	0	12515	536	19	1	1949	1	PRKCQ	10	6553040	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		6553040	128981707	45	1648											
USP6NL	9712	broad.mit.edu	37	10	11505268	11505268	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:11505268G>A	uc001iks.1	-	13	1753	c.1710C>T	c.(1708-1710)aaC>aaT	p.N570N	USP6NL_uc001ikt.3_Silent_p.N553N	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	553						intracellular	Rab GTPase activator activity	p.N570N(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGCCTGGCACGTTGTCGTACT	0.662													A	11505268	G	A	11505268	2	1	26	1	0	0	0	0	0	0	0	1	17084	1136	40	1		1	USP6NL	10	11505268	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	4952228	11505268	124029479	46	1649											
PPP3CB	5532	broad.mit.edu	37	10	75204531	75204531	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:75204531T>A	uc001juf.3	-	11	1456	c.1321A>T	c.(1321-1323)Atg>Ttg	p.M441L	PPP3CB_uc001jue.3_Missense_Mutation_p.M440L|PPP3CB_uc001jug.3_Missense_Mutation_p.M441L|PPP3CB_uc001juh.2_Missense_Mutation_p.M355L|PPP3CB_uc001jui.2_Missense_Mutation_p.M458L|PPP3CB_uc010qkj.2_Missense_Mutation_p.M68L	NM_001142353	NP_001135825	P16298	PP2BB_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA.	440										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CTAGGCAACATCCCTGTGGGA	0.483													A	75204531	T	A	75204531	3	1	26	1	0	0	0	0	1	0	0	0	12398	1435	50	5	268	5	PPP3CB	10	75204531	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	63699263	75204531	60330216	47	1650											
PTEN	5728	broad.mit.edu	37	10	89692922	89692922	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:89692922T>C	uc001kfb.3	+	4	1438	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C136R(9)|p.C136Y(8)|p.I135fs*44(6)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTAATGATATGTGCATATTT	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692922	T	C	89692922	3	2	26	1	0	0	0	0	1	0	0	0	12738	1464	51	4	424	4	PTEN	10	89692922	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	14488391	89692922	45841825	48	1651											
MMP21	118856	broad.mit.edu	37	10	127456157	127456157	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:127456157C>G	uc001liu.3	-	5	1354	c.1354G>C	c.(1354-1356)Gac>Cac	p.D452H		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	452	Hemopexin-like 3.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACGCCGTGTCTAGGGGACTT	0.443													G	127456157	C	G	127456157	3	3	26	1	0	0	0	0	1	0	0	0	9660	913	32	5	363	5	MMP21	10	127456157	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	37763235	127456157	8078590	49	1652											
OR52E6	390078	broad.mit.edu	37	11	5862602	5862602	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:5862602T>G	uc010qzq.2	-	0	526	c.526A>C	c.(526-528)Atc>Ctc	p.I176L	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTATGAGGGATGATACGATGT	0.483													G	5862602	T	G	5862602	3	3	26	1	0	0	0	0	1	0	0	0	11117	1464	51	5	417	5	OR52E6	11	5862602	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08		5862602	129143914	50	1653											
CD44	960	broad.mit.edu	37	11	35232846	35232846	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:35232846A>G	uc001mvu.3	+	13	2094	c.1660A>G	c.(1660-1662)Act>Gct	p.T554A	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Missense_Mutation_p.T511A|CD44_uc001mvw.3_Missense_Mutation_p.T305A|CD44_uc001mwc.4_Missense_Mutation_p.T241A|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Missense_Mutation_p.T82A|CD44_uc010res.2_Missense_Mutation_p.T118A|CD44_uc010ret.2_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	554	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TGAAGGCTCAACTACTTTACT	0.463													G	35232846	A	G	35232846	3	3	26	1	0	0	0	0	1	0	0	0	3017	43	2	4	1714	4	CD44	11	35232846	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	29370244	35232846	99773670	51	1654											
SLC22A9	114571	broad.mit.edu	37	11	63149746	63149746	+	Missense_Mutation	SNP	C	C	T	rs141060614		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:63149746C>T	uc001nww.3	+	5	1338	c.1070C>T	c.(1069-1071)aCg>aTg	p.T357M	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	357					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGTCCTTTACGAGGTAAGCT	0.403													T	63149746	C	T	63149746	3	4	26	1	0	0	0	0	1	0	0	0	14461	536	19	1	1092	1	SLC22A9	11	63149746	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	27916900	63149746	71856770	52	1655											
HTR3A	3359	broad.mit.edu	37	11	113853886	113853886	+	Missense_Mutation	SNP	G	G	A	rs149715642		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:113853886G>A	uc010rxb.2	+	4	670	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	HTR3A_uc010rxa.2_Missense_Mutation_p.R146Q|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.R125Q	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	140					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GTGTATATTCGGCATCAAGGC	0.542													A	113853886	G	A	113853886	3	1	26	1	0	0	0	0	1	0	0	0	7444	1116	39	2	481	2	HTR3A	11	113853886	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	50704140	113853886	21152630	53	1656											
CACNA1C	775	broad.mit.edu	37	12	2566754	2566754	+	Silent	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:2566754A>G	uc009zdu.1	+	4	952	c.639A>G	c.(637-639)gaA>gaG	p.E213E	CACNA1C_uc001qkc.2_Silent_p.E213E|CACNA1C_uc001qjz.2_Silent_p.E213E|CACNA1C_uc001qkd.2_Silent_p.E213E|CACNA1C_uc001qke.2_Silent_p.E213E|CACNA1C_uc001qkf.2_Silent_p.E213E|CACNA1C_uc009zdw.1_Silent_p.E213E|CACNA1C_uc001qkg.2_Silent_p.E213E|CACNA1C_uc001qkh.2_Silent_p.E213E|CACNA1C_uc001qkl.2_Silent_p.E213E|CACNA1C_uc001qkj.2_Silent_p.E213E|CACNA1C_uc001qkk.2_Silent_p.E213E|CACNA1C_uc001qkn.2_Silent_p.E213E|CACNA1C_uc001qkm.2_Silent_p.E213E|CACNA1C_uc001qko.2_Silent_p.E213E|CACNA1C_uc001qkp.2_Silent_p.E213E|CACNA1C_uc001qkq.2_Silent_p.E213E|CACNA1C_uc001qku.2_Silent_p.E213E|CACNA1C_uc001qkr.2_Silent_p.E213E|CACNA1C_uc001qks.2_Silent_p.E213E|CACNA1C_uc001qkt.2_Silent_p.E213E|CACNA1C_uc009zdv.1_Silent_p.E213E|CACNA1C_uc001qkb.2_Silent_p.E213E|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	213					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			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)	CAATTTTAGAACAAGCAACCA	0.557													G	2566754	A	G	2566754	2	3	26	1	0	0	0	0	0	0	0	1	2540	40	2	4		4	CACNA1C	12	2566754	Silent	SNP	A	TCGA-06-0155-01B-01D-1492-08		2566754	131285141	54	1657											
PPFIBP1	8496	broad.mit.edu	37	12	27809558	27809558	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:27809558G>A	uc001ric.2	+	9	1176	c.799G>A	c.(799-801)Gca>Aca	p.A267T	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A95T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A236T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A236T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A114T|PPFIBP1_uc001rie.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	267					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGATGAACTGGCATCTTTAAA	0.323													A	27809558	G	A	27809558	3	1	26	1	0	0	0	0	1	0	0	0	12313	1203	42	3	774	3	PPFIBP1	12	27809558	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	25242804	27809558	106042337	55	1658											
MDM2	4193	broad.mit.edu	37	12	69210697	69210697	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:69210697G>A	uc021rad.1	+						MDM2_uc001sui.3_Missense_Mutation_p.V94M|MDM2_uc009zqx.3_Missense_Mutation_p.V94M|MDM2_uc009zqy.1_Missense_Mutation_p.V83M|MDM2_uc021rae.1_Missense_Mutation_p.V83M|MDM2_uc001sun.4_Intron|MDM2_uc009zra.3_Intron|MDM2_uc009zrb.1_Non-coding_Transcript|MDM2_uc021raf.1_Intron|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_Intron|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Intron|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Intron|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Missense_Mutation_p.V58M|MDM2_uc021rai.1_Intron|MDM2_uc021raj.1_Intron			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.						cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTTGTTTGGCGTGCCAAGCTT	0.363			A		"sarcoma, glioma, colorectal, other"								A	69210697	G	A	69210697	3	1	26	1	0	0	0	0	1	0	0	0	9413	1145	40	1	294	1	MDM2	12	69210697	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	41401139	69210697	64641198	56	1659											
TPH2	121278	broad.mit.edu	37	12	72366329	72366329	+	Silent	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:72366329T>A	uc009zrw.1	+	5	780	c.639T>A	c.(637-639)acT>acA	p.T213T	TPH2_uc001swy.2_Silent_p.T123T	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	213					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGGAGTATACTGAAGAAGAAA	0.428													A	72366329	T	A	72366329	2	1	26	1	0	0	0	0	0	0	0	1	16399	1567	55	5		5	TPH2	12	72366329	Silent	SNP	T	TCGA-06-0155-01B-01D-1492-08	3155632	72366329	61485566	57	1660											
MYF5	4617	broad.mit.edu	37	12	81111228	81111228	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:81111228G>A	uc001szg.2	+	0	521	c.386G>A	c.(385-387)cGc>cAc	p.R129H		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	129	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R129S(1)|p.R129C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AATGCCATCCGCTACATCGAG	0.587													A	81111228	G	A	81111228	3	1	26	1	0	0	0	0	1	0	0	0	10027	1087	38	1	388	1	MYF5	12	81111228	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	8744899	81111228	52740667	58	1661											
STAB2	55576	broad.mit.edu	37	12	104089589	104089589	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:104089589G>T	uc001tjw.3	+	32	3735	c.3549G>T	c.(3547-3549)gaG>gaT	p.E1183D		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1183	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGCCATCGAGAATTACATCA	0.403													T	104089589	G	T	104089589	3	4	26	1	0	0	0	0	1	0	0	0	15237	933	33	5	3679	5	STAB2	12	104089589	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	22978361	104089589	29762306	59	1662											
LHX5	64211	broad.mit.edu	37	12	113905175	113905175	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:113905175C>T	uc001tvj.1	-	3	1301	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCGCCTAGGGCGCTCAGCTGT	0.652													T	113905175	C	T	113905175	3	4	26	1	0	0	0	0	1	0	0	0	8774	768	27	1	489	1	LHX5	12	113905175	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	9815586	113905175	19946720	60	1663											
RIMBP2	23504	broad.mit.edu	37	12	130927111	130927111	+	Silent	SNP	G	G	A	rs142303116	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:130927111G>A	uc001uil.2	-	7	951	c.735C>T	c.(733-735)aaC>aaT	p.N245N	RIMBP2_uc001uim.3_Silent_p.N153N	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	245						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GATCCTGCTCGTTCCCCAGCG	0.602													A	130927111	G	A	130927111	2	1	26	1	0	0	0	0	0	0	0	1	13363	1136	40	1		1	RIMBP2	12	130927111	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	17021936	130927111	2924784	61	1664											
COG6	57511	broad.mit.edu	37	13	40293942	40293942	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr13:40293942G>A	uc001uxh.2	+	14	1662	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	COG6_uc001uxi.2_Missense_Mutation_p.R469H|COG6_uc010acb.2_Missense_Mutation_p.R521H	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	521					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACTGACAGACGTCTGGAAATG	0.343													A	40293942	G	A	40293942	3	1	26	1	0	0	0	0	1	0	0	0	3662	1145	40	1	1620	1	COG6	13	40293942	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		40293942	74875936	62	1665											
FANCM	57697	broad.mit.edu	37	14	45657010	45657010	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr14:45657010A>G	uc001wwd.4	+	18	4798	c.4699A>G	c.(4699-4701)Aaa>Gaa	p.K1567E	FANCM_uc010anf.3_Missense_Mutation_p.K1541E|FANCM_uc001wwe.4_Missense_Mutation_p.K1103E|FANCM_uc010ang.3_Missense_Mutation_p.K781E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1567					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			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						TATTTACATGAAATCTTTGCG	0.254								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	45657010	A	G	45657010	3	3	26	1	0	0	0	0	1	0	0	0	5671	247	9	4	4773	4	FANCM	14	45657010	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08		45657010	61692530	63	1666											
TBPL2	387332	broad.mit.edu	37	14	55907173	55907173	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr14:55907173G>A	uc001xby.3	-	0	91	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	31			R -> P (in dbSNP:rs8019270).		multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TCCATGGACCGTAATCCCACT	0.657													A	55907173	G	A	55907173	3	1	26	1	0	0	0	0	1	0	0	0	15643	1144	40	1	1064	1	TBPL2	14	55907173	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	10250163	55907173	51442367	64	1667											
EHD4	30844	broad.mit.edu	37	15	42193062	42193062	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr15:42193062G>A	uc001zot.3	-	5	1470	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	469	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592													A	42193062	G	A	42193062	2	1	26	1	0	0	0	0	0	0	0	1	4980	1136	40	1		1	EHD4	15	42193062	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08		42193062	60338330	65	1668											
RAB11FIP3	9727	broad.mit.edu	37	16	553082	553082	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:553082G>A	uc002chf.3	+	6	1719	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	RAB11FIP3_uc010uuf.2_Silent_p.E164E|RAB11FIP3_uc010uug.2_Silent_p.E195E	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	460					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCCCAGAGGAGGACATTGCTG	0.622													A	553082	G	A	553082	2	1	26	1	0	0	0	0	0	0	0	1	12895	991	35	3		3	RAB11FIP3	16	553082	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08		553082	89801671	66	1669											
SCNN1G	6340	broad.mit.edu	37	16	23226531	23226531	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:23226531G>A	uc002dlm.1	+	12	1830	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	564					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.R564H(2)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCCCGCCGCCAGTGGCAG	0.587													A	23226531	G	A	23226531	3	1	26	1	0	0	0	0	1	0	0	0	13930	1087	38	1	1737	1	SCNN1G	16	23226531	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	22673449	23226531	67128222	67	1670											
CES1	1066	broad.mit.edu	37	16	55853460	55853460	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:55853460G>A	uc002eim.3	-	6	998	c.890C>T	c.(889-891)aCg>aTg	p.T297M	CES1_uc002eil.3_Missense_Mutation_p.T298M|CES1_uc002ein.3_Missense_Mutation_p.T297M	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	297					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTTCAATGTCGTCTCCAAGAG	0.507													A	55853460	G	A	55853460	3	1	26	1	0	0	0	0	1	0	0	0	3269	1145	40	1	845	1	CES1	16	55853460	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	32626929	55853460	34501293	68	1671											
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr17:38240101G>A	uc021twy.1	+	4	792	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_uc010cwp.1_Missense_Mutation_p.R79H|THRA_uc002htv.3_Missense_Mutation_p.R79H|THRA_uc002htw.3_Missense_Mutation_p.R79H|THRA_uc002htx.3_Missense_Mutation_p.R79H	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(3)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547													A	38240101	G	A	38240101	3	1	26	1	0	0	0	0	1	0	0	0	15870	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		38240101	42955109	69	1672											
ASPSCR1	79058	broad.mit.edu	37	17	79953896	79953896	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr17:79953896C>T	uc002kcy.3	+	5	558	c.461C>T	c.(460-462)aCg>aTg	p.T154M	ASPSCR1_uc002kcx.3_Missense_Mutation_p.T154M|ASPSCR1_uc021ufj.1_Missense_Mutation_p.T77M|ASPSCR1_uc002kda.3_Missense_Mutation_p.T77M|ASPSCR1_uc002kdb.1_Missense_Mutation_p.T77M	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	154							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGCGGGGCACGACGCTGCAG	0.657			T	TFE3	alveolar soft part sarcoma								T	79953896	C	T	79953896	3	4	26	1	0	0	0	0	1	0	0	0	1059	536	19	1	483	1	ASPSCR1	17	79953896	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	41713795	79953896	1241314	70	1673											
MIB1	57534	broad.mit.edu	37	18	19345780	19345780	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr18:19345780A>G	uc002ktq.3	+	1	277	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	MIB1_uc002ktp.3_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	93					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CCAGCAACCAATCATTGGCAT	0.378													G	19345780	A	G	19345780	3	3	26	1	0	0	0	0	1	0	0	0	9566	101	4	4	283	4	MIB1	18	19345780	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08		19345780	58731468	71	1674											
LMAN1	3998	broad.mit.edu	37	18	57022801	57022801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr18:57022801C>A	uc002lhz.3	-	1	336	c.304G>T	c.(304-306)Gag>Tag	p.E102*	LMAN1_uc010xek.1_Nonsense_Mutation_p.E102*	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	102	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCCCAGTTCTCAAAGGCCGCT	0.413													A	57022801	C	A	57022801	4	1	26	1	0	0	0	0	0	1	0	0	8836	835	29	5	1276	5	LMAN1	18	57022801	Nonsense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	37677021	57022801	21054447	72	1675											
MUM1	84939	broad.mit.edu	37	19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:1357015C>T	uc002lrz.2	+	2	178	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_uc010dsi.2_5'UTR|MUM1_uc002lsb.2_5'UTR|MUM1_uc010xgm.1_Missense_Mutation_p.A22V|MUM1_uc002lsc.1_5'Flank	NM_032853	NP_116242	Q2TAK8	MUM1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA.	22					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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)		TAGGTTTTGGCCCGAACCGCG	0.368													T	1357015	C	T	1357015	3	4	26	1	0	0	0	0	1	0	0	0	9985	739	26	3	74	3	MUM1	19	1357015	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		1357015	57771968	73	1676											
CD209	30835	broad.mit.edu	37	19	7807928	7807928	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:7807928C>T	uc002mht.2	-	6	1279	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	CD209_uc010xju.1_Silent_p.A243A|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Silent_p.A380A|CD209_uc002mhs.2_Silent_p.A334A|CD209_uc002mhu.2_Silent_p.A312A|CD209_uc010dvq.2_Silent_p.A398A|CD209_uc002mhq.2_Silent_p.A404A|CD209_uc002mhv.2_Silent_p.A380A|CD209_uc002mhx.2_Silent_p.A360A|CD209_uc002mhw.2_Silent_p.A268A|CD209_uc010dvr.2_Silent_p.A168A	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	404					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A404A(3)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTTCTGCTACGCAGGAGGGG	0.502													T	7807928	C	T	7807928	2	4	26	1	0	0	0	0	0	0	0	1	2984	523	19	1		1	CD209	19	7807928	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	6450913	7807928	51321055	74	1677											
AKAP8	10270	broad.mit.edu	37	19	15484143	15484143	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:15484143C>T	uc002nav.3	-	4	450	c.380G>A	c.(379-381)cGc>cAc	p.R127H	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_5'UTR	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	127					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGGCTGGAAGCGGAAGGAGCT	0.607													T	15484143	C	T	15484143	3	4	26	1	0	0	0	0	1	0	0	0	457	768	27	1	1738	1	AKAP8	19	15484143	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	7676215	15484143	43644840	75	1678											
OR10H4	126541	broad.mit.edu	37	19	16060302	16060302	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:16060302C>T	uc010xov.2	+	0	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T162T(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATGGTGACAACGATAGTTTTC	0.502													T	16060302	C	T	16060302	3	4	26	1	0	0	0	0	1	0	0	0	10908	536	19	1	487	1	OR10H4	19	16060302	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	576159	16060302	43068681	76	1679											
RCN3	57333	broad.mit.edu	37	19	50042431	50042431	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:50042431A>G	uc002poj.3	+	4	1121	c.674A>G	c.(673-675)tAc>tGc	p.Y225C		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	225	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GTGGAGGAGTACATCGGTGAG	0.587													G	50042431	A	G	50042431	3	3	26	1	0	0	0	0	1	0	0	0	13181	391	14	4	688	4	RCN3	19	50042431	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	33982129	50042431	9086552	77	1680											
SIGLEC11	114132	broad.mit.edu	37	19	50453362	50453362	+	Silent	SNP	G	G	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:50453362G>T	uc010ybh.2	-	10	2053	c.1962C>A	c.(1960-1962)ctC>ctA	p.L654L	SIGLEC11_uc010ybi.2_Silent_p.L558L	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	654					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGGCTCCCAGAGCCTCAGGC	0.662													T	50453362	G	T	50453362	2	4	26	1	0	0	0	0	0	0	0	1	14307	929	33	5		5	SIGLEC11	19	50453362	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	410931	50453362	8675621	78	1681											
RBL1	5933	broad.mit.edu	37	20	35663716	35663716	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr20:35663716T>A	uc002xgi.3	-	14	2178	c.2099A>T	c.(2098-2100)cAa>cTa	p.Q700L	RBL1_uc002xgj.1_Missense_Mutation_p.Q700L	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	700	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TAGAAGAGTTTGACCAGGTAA	0.363													A	35663716	T	A	35663716	3	1	26	1	0	0	0	0	1	0	0	0	13109	1812	63	5	1148	5	RBL1	20	35663716	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08		35663716	27361804	79	1682											
DSCAM	1826	broad.mit.edu	37	21	41514514	41514514	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr21:41514514A>T	uc002yyq.1	-	17	3829	c.3377T>A	c.(3376-3378)gTc>gAc	p.V1126D	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1126	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGTAAATGACTCTGAACCC	0.468													T	41514514	A	T	41514514	3	4	26	1	0	0	0	0	1	0	0	0	4768	275	10	5	2725	5	DSCAM	21	41514514	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08		41514514	6615381	80	1683											
PRDM15	63977	broad.mit.edu	37	21	43230603	43230603	+	Silent	SNP	G	G	A			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr21:43230603G>A	uc002yzq.1	-	27	3768	c.3657C>T	c.(3655-3657)caC>caT	p.H1219H	PRDM15_uc002yzo.3_Silent_p.H890H|PRDM15_uc002yzp.3_Silent_p.H910H|PRDM15_uc002yzr.1_Silent_p.H910H	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCACCTTGTCGTGTGTGAGCT	0.612													A	43230603	G	A	43230603	2	1	26	1	0	0	0	0	0	0	0	1	12456	1136	40	1		1	PRDM15	21	43230603	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	1716089	43230603	4899292	81	1684											
IL2RB	3560	broad.mit.edu	37	22	37524874	37524874	+	Silent	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr22:37524874C>T	uc003aqv.1	-	9	1049	c.918G>A	c.(916-918)tcG>tcA	p.S306S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	306					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			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)	AGGGGAAGGGCGAAGAGAGCC	0.622													T	37524874	C	T	37524874	2	4	26	1	0	0	0	0	0	0	0	1	7687	755	27	1		1	IL2RB	22	37524874	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08		37524874	13779692	82	1685											
KDM6A	7403	broad.mit.edu	37	X	44922695	44922695	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:44922695G>C	uc011mkz.2	+	16	2087	c.1712G>C	c.(1711-1713)cGa>cCa	p.R571P	KDM6A_uc022bvi.1_Missense_Mutation_p.R189P|KDM6A_uc010nhk.2_Missense_Mutation_p.R485P|KDM6A_uc004dge.4_Missense_Mutation_p.R519P|KDM6A_uc011mla.2_Missense_Mutation_p.R474P|KDM6A_uc011mlb.2_Missense_Mutation_p.R526P|KDM6A_uc011mlc.2_Missense_Mutation_p.R223P|KDM6A_uc022bvj.1_Missense_Mutation_p.R440P|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.R158P	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	519					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCACAGGTACGATCTACTGGA	0.463			"D, N, F, S"		"renal, oesophageal SCC, MM"								C	44922695	G	C	44922695	3	2	26	1	0	0	0	0	1	0	0	0	8137	1058	37	5	1618	5	KDM6A	23	44922695	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		44922695	110347865	83	1686											
DCAF12L2	340578	broad.mit.edu	37	X	125299171	125299171	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:125299171C>T	uc004euk.2	-	0	910	c.737G>A	c.(736-738)cGt>cAt	p.R246H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647													T	125299171	C	T	125299171	3	4	26	1	0	0	0	0	1	0	0	0	4265	536	19	1	658	1	DCAF12L2	23	125299171	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	80376476	125299171	29971389	84	1687											
SLITRK4	139065	broad.mit.edu	37	X	142718314	142718314	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:142718314C>T	uc022cfm.1	-	0	611	c.611G>A	c.(610-612)cGt>cAt	p.R204H	SLITRK4_uc022cfl.1_Missense_Mutation_p.R204H|SLITRK4_uc004fbx.3_Missense_Mutation_p.R204H|SLITRK4_uc004fby.3_Missense_Mutation_p.R204H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	204						integral to membrane		p.R204H(2)|p.R204C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428													T	142718314	C	T	142718314	3	4	26	1	0	0	0	0	1	0	0	0	14745	536	19	1	1906	1	SLITRK4	23	142718314	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	17419143	142718314	12552246	85	1688											
SPANXN2	494119	broad.mit.edu	37	X	142795437	142795437	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:142795437C>T	uc004fbz.3	-	1	995	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	81								p.V81F(2)|p.R90R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453													T	142795437	C	T	142795437	3	4	26	1	0	0	0	0	1	0	0	0	14991	536	19	1	305	1	SPANXN2	23	142795437	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	77123	142795437	12475123	86	1689											
SPTA1	6708	broad.mit.edu	37	1	158585171	158585171	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:158585171G>A	uc001fst.1	-	47	6822	c.6623C>T	c.(6622-6624)gCg>gTg	p.A2208V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2208					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACGCTTCATCGCCTGGATCTC	0.468													A	158585171	G	A	158585171	3	1	27	1	0	0	0	0	1	0	0	0	15115	1087	38	1	656	1	SPTA1	1	158585171	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		158585171	90665450	1	1690											
SERPINC1	462	broad.mit.edu	37	1	173878724	173878724	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:173878724G>A	uc001gjt.3	-	4	1238	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	373					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TGAACAGATCGACAAGGCCCA	0.527													A	173878724	G	A	173878724	2	1	27	1	0	0	0	0	0	0	0	1	14109	1045	37	2		2	SERPINC1	1	173878724	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08	15293553	173878724	75371897	2	1691											
SYT2	127833	broad.mit.edu	37	1	202566072	202566072	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:202566072G>A	uc001gye.3	-	8	1266	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I	SYT2_uc010pqb.2_Missense_Mutation_p.T358I|SYT2_uc009xaf.3_Missense_Mutation_p.T188I	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	358	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.T358T(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTCCAGCACGGTGACCACTAC	0.547													A	202566072	G	A	202566072	3	1	27	1	0	0	0	0	1	0	0	0	15471	1261	44	3	190	3	SYT2	1	202566072	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	28687348	202566072	46684549	3	1692											
HSD11B1	3290	broad.mit.edu	37	1	209907741	209907741	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:209907741C>T	uc001hhj.3	+	6	886	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	HSD11B1_uc021pin.1_Missense_Mutation_p.R252C|HSD11B1_uc001hhk.3_Missense_Mutation_p.R252C	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	252					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGGAGCTCTGCGCCAAGAAGA	0.463													T	209907741	C	T	209907741	3	4	27	1	0	0	0	0	1	0	0	0	7375	768	27	1	776	1	HSD11B1	1	209907741	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	7341669	209907741	39342880	4	1693											
RYR2	6262	broad.mit.edu	37	1	237777626	237777626	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:237777626C>T	uc001hyl.1	+	36	5318	c.5198C>T	c.(5197-5199)aCg>aTg	p.T1733M		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1733	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			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)			ACGGAGGAGACGAAGAGCATC	0.557													T	237777626	C	T	237777626	3	4	27	1	0	0	0	0	1	0	0	0	13769	536	19	1	5344	1	RYR2	1	237777626	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	27869885	237777626	11472995	5	1694											
C2orf16	84226	broad.mit.edu	37	2	27803330	27803330	+	Silent	SNP	T	T	C			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:27803330T>C	uc002rkz.4	+	0	3942	c.3891T>C	c.(3889-3891)ctT>ctC	p.L1297L	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1297										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCAAGCGACTTAGAAAACACA	0.403													C	27803330	T	C	27803330	2	2	27	1	0	0	0	0	0	0	0	1	2157	1741	61	4		4	C2orf16	2	27803330	Silent	SNP	T	TCGA-06-0157-01A-01D-1491-08		27803330	215396043	6	1695											
SNRNP200	23020	broad.mit.edu	37	2	96964138	96964138	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:96964138C>T	uc002svu.3	-	8	1135	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	335						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGTGCACTGGCCAGCAAGGTA	0.433													T	96964138	C	T	96964138	3	4	27	1	0	0	0	0	1	0	0	0	14852	739	26	3	5555	3	SNRNP200	2	96964138	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	69160808	96964138	146235235	7	1696											
TBR1	10716	broad.mit.edu	37	2	162280004	162280004	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:162280004A>G	uc002ubw.1	+	5	1617	c.1315A>G	c.(1315-1317)Aac>Gac	p.N439D	TBR1_uc010foy.2_Missense_Mutation_p.N152D	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	439						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GTTCGTGAGCAACTACGCCAA	0.746													G	162280004	A	G	162280004	3	3	27	1	0	0	0	0	1	0	0	0	15644	130	5	4	1337	4	TBR1	2	162280004	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	65315866	162280004	80919369	8	1697											
TTN	7273	broad.mit.edu	37	2	179542633	179542633	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:179542633G>A	uc021vsy.1	-	142	30499	c.30274C>T	c.(30274-30276)Cgt>Tgt	p.R10092C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6753C|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11019	Glu-rich.						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)			ACTGGTTCACGTTTCTTTGGC	0.363													A	179542633	G	A	179542633	3	1	27	1	0	0	0	0	1	0	0	0	16732	1145	40	1	70391	1	TTN	2	179542633	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	17262629	179542633	63656740	9	1698											
PDE1A	5136	broad.mit.edu	37	2	183053766	183053766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:183053766C>T	uc002uos.3	-	11	1279	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	PDE1A_uc010zfp.1_Missense_Mutation_p.G295R|PDE1A_uc002uoq.1_Missense_Mutation_p.G399R|PDE1A_uc010zfq.1_Missense_Mutation_p.G399R|PDE1A_uc002uor.3_Missense_Mutation_p.G383R|PDE1A_uc002uou.3_Missense_Mutation_p.G365R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	399	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AATGGAAGCCCTAATTCAGCT	0.413													T	183053766	C	T	183053766	3	4	27	1	0	0	0	0	1	0	0	0	11633	681	24	3	506	3	PDE1A	2	183053766	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	3511133	183053766	60145607	10	1699											
STXBP5L	9515	broad.mit.edu	37	3	121126274	121126274	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr3:121126274G>C	uc003eec.4	+	23	2984	c.2844G>C	c.(2842-2844)caG>caC	p.Q948H	STXBP5L_uc011bji.2_Missense_Mutation_p.Q924H	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	948					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGATCATCAGTATACAATAA	0.378													C	121126274	G	C	121126274	3	2	27	1	0	0	0	0	1	0	0	0	15356	1020	36	5	2934	5	STXBP5L	3	121126274	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		121126274	76896156	11	1700											
DNAJB11	51726	broad.mit.edu	37	3	186302367	186302367	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr3:186302367delA	uc003fqi.3	+	8	1736	c.1001delA	c.(1000-1002)gaafs	p.E334fs		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	334					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTAACAGAGGAAGCGAGAGAA	0.413													-	186302367	A	-	186302367	7	5	27	1	0	1	0	1	0	0	0	0	4616	246	9	0	1035	0	DNAJB11	3	186302367	Frame_Shift_Del	DEL	A	TCGA-06-0157-01A-01D-1491-08	65176093	186302367	11720063	12	1701											
UGT2B4	7363	broad.mit.edu	37	4	70361103	70361103	+	Silent	SNP	C	C	G			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr4:70361103C>G	uc003hek.4	-	0	524	c.477G>C	c.(475-477)ctG>ctC	p.L159L	UGT2B4_uc011cap.2_Silent_p.L23L|UGT2B4_uc003hel.4_Silent_p.L159L	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	159					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACTCGGCCAGCAGCTCACCAA	0.428													G	70361103	C	G	70361103	2	3	27	1	0	0	0	0	0	0	0	1	16958	697	25	5		5	UGT2B4	4	70361103	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08		70361103	120793173	13	1702											
IRX1	79192	broad.mit.edu	37	5	3601124	3601124	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr5:3601124G>A	uc003jde.3	+	3	1465	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	471						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P471R(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGGGAACGCCGCGGATCCTAG	0.652													A	3601124	G	A	3601124	2	1	27	1	0	0	0	0	0	0	0	1	7843	1074	38	1		1	IRX1	5	3601124	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		3601124	177314136	14	1703											
TARS	6897	broad.mit.edu	37	5	33461376	33461376	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr5:33461376C>G	uc003jhy.3	+	12	1822	c.1527C>G	c.(1525-1527)atC>atG	p.I509M	TARS_uc010iup.1_Missense_Mutation_p.I450M|TARS_uc011coc.2_Missense_Mutation_p.I530M|TARS_uc003jhz.3_Missense_Mutation_p.I405M|TARS_uc011cod.2_Missense_Mutation_p.I388M	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	509					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTGGAGATATCGAAGTATGGG	0.373													G	33461376	C	G	33461376	3	3	27	1	0	0	0	0	1	0	0	0	15556	874	31	5	1577	5	TARS	5	33461376	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	29860252	33461376	147453884	15	1704											
RPS12	6206	broad.mit.edu	37	6	133137703	133137703	+	Splice_Site	SNP	G	G	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr6:133137703G>T	uc003qdx.3	+	4	316	c.234_splice	c.e4+1	p.K78_splice	SNORA33_uc003qdy.1_3'UTR	NM_001016	NP_001007	P25398	RS12_HUMAN	Homo sapiens ribosomal protein S12 (RPS12), mRNA.	78					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		CCTAATTAAGGTAAGGCTGCT	0.438													T	133137703	G	T	133137703	5	4	27	1	0	0	0	0	0	0	1	0	13622	1275	44	5	245	5	RPS12	6	133137703	Splice_Site	SNP	G	TCGA-06-0157-01A-01D-1491-08		133137703	37977364	16	1705											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	27	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		55221822	103916841	17	1706											
PCLO	27445	broad.mit.edu	37	7	82784773	82784773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr7:82784773G>A	uc003uhx.2	-	1	1473	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	PCLO_uc003uhv.2_Missense_Mutation_p.P395L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	346	Gln-rich.|Pro-rich.				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						TCCAACTCCAGGAGGCTGAGC	0.592													A	82784773	G	A	82784773	3	1	27	1	0	0	0	0	1	0	0	0	11583	1000	35	3	14357	3	PCLO	7	82784773	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	27562951	82784773	76353890	18	1707											
GATA4	2626	broad.mit.edu	37	8	11607632	11607632	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:11607632C>T	uc011kxc.1	+	2	1256	c.799C>T	c.(799-801)Cga>Tga	p.R267*	GATA4_uc003wub.1_Nonsense_Mutation_p.R60*|GATA4_uc003wuc.2_Nonsense_Mutation_p.R266*	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	266					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CGCCTCCCGCCGAGTGGGCCT	0.632													T	11607632	C	T	11607632	4	4	27	1	0	0	0	0	0	1	0	0	6256	644	23	2	806	2	GATA4	8	11607632	Nonsense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		11607632	134756390	19	1708											
SLC18A1	6570	broad.mit.edu	37	8	20022464	20022464	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:20022464A>T	uc011kyq.2	-	10	1402	c.931T>A	c.(931-933)Ttt>Att	p.F311I	SLC18A1_uc003wzm.3_Missense_Mutation_p.F311I|SLC18A1_uc011kyr.2_Missense_Mutation_p.F311I|SLC18A1_uc003wzn.3_Intron|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	311					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		ATGTTGGCAAAGCAGATGGAC	0.612													T	20022464	A	T	20022464	3	4	27	1	0	0	0	0	1	0	0	0	14425	72	3	5	674	5	SLC18A1	8	20022464	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	8414832	20022464	126341558	20	1709											
MRPL13	28998	broad.mit.edu	37	8	121432169	121432170	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:121432169_121432170insT	uc003ypa.3	-	4	628_629	c.315_316insA	c.(313-318)aaactafs	p.K105fs	MRPL13_uc010mdf.3_Non-coding_Transcript	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	Homo sapiens mitochondrial ribosomal protein L13 (MRPL13), nuclear gene encoding mitochondrial protein, mRNA.	105					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAAATAGCTAGTTTTACAATCT	0.356													T	121432170	-	T	121432169	7	5	27	1	0	1	1	0	0	0	0	0	9778	1020	36	0	232	0	MRPL13	8	121432169	Frame_Shift_Ins	INS	-	TCGA-06-0157-01A-01D-1491-08	101409705	121432169	24931853	21	1710											
AQP7	364	broad.mit.edu	37	9	33385701	33385701	+	Missense_Mutation	SNP	T	T	C	rs34690144		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr9:33385701T>C	uc003zst.3	-	6	861	c.689A>G	c.(688-690)gAc>gGc	p.D230G	AQP7_uc003zsu.1_Missense_Mutation_p.D173G|AQP7_uc010mjs.2_Missense_Mutation_p.D138G|AQP7_uc010mjt.2_Missense_Mutation_p.D138G|AQP7_uc011lny.1_Missense_Mutation_p.D229G|AQP7_uc003zss.3_Missense_Mutation_p.D138G|AQP7_uc011lnz.1_Missense_Mutation_p.D138G|AQP7_uc011loa.1_Silent_p.G98G|AQP7_uc011lnx.1_Missense_Mutation_p.D230G	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	230					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGGGGGCAGGTCCCGGGACGG	0.587													C	33385701	T	C	33385701	3	2	27	1	0	0	0	0	1	0	0	0	831	1667	58	4	347	4	AQP7	9	33385701	Missense_Mutation	SNP	T	TCGA-06-0157-01A-01D-1491-08		33385701	107827730	22	1711											
PTEN	5728	broad.mit.edu	37	10	89690819	89690820	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:89690819_89690820delTA	uc001kfb.3	+	3	1258_1259	c.226_227delTA	c.(226-228)tatfs	p.Y76fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	76	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y76fs*1(24)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.Y76del(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.H75_T78del(2)|p.Y27_N212>Y(2)|p.Y76Y(1)|p.Y76*(1)|p.H75N(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAAAGACATTATGACACCGCC	0.302		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89690820	TA	-	89690819	7	5	27	1	0	1	0	1	0	0	0	0	12738	1754	61	0	240	0	PTEN	10	89690819	Frame_Shift_Del	DEL	TA	TCGA-06-0157-01A-01D-1491-08		89690819	45843928	23	1712											
HSPA12A	259217	broad.mit.edu	37	10	118439024	118439024	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:118439024G>A	uc001lct.3	-	9	1381	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	HSPA12A_uc001lcu.3_Missense_Mutation_p.R343W	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	426							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TTGCTTTTCCGCAAGGCGTGC	0.572													A	118439024	G	A	118439024	3	1	27	1	0	0	0	0	1	0	0	0	7404	1086	38	1	763	1	HSPA12A	10	118439024	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	28748205	118439024	17095723	24	1713											
JAKMIP3	282973	broad.mit.edu	37	10	133949482	133949482	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:133949482delA	uc001lkx.4	+	4	1018	c.1018delA	c.(1018-1020)aaafs	p.K340fs		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTGCTGGATAAAAACAAGCG	0.443													-	133949482	A	-	133949482	7	5	27	1	0	1	0	1	0	0	0	0	7942	363	13	0	1036	0	JAKMIP3	10	133949482	Frame_Shift_Del	DEL	A	TCGA-06-0157-01A-01D-1491-08	15510458	133949482	1585265	25	1714											
KCNQ1	3784	broad.mit.edu	37	11	2466624	2466624	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr11:2466624C>T	uc001lwn.3	+	0	404	c.296C>T	c.(295-297)cCg>cTg	p.P99L	KCNQ1_uc009ydo.1_Missense_Mutation_p.P99L	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	99				TRRPVLARTHV -> METRGSRLTGG (in Ref. 6; AAC51781).	blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ACGCGCCGCCCGGTGTTGGCG	0.706													T	2466624	C	T	2466624	3	4	27	1	0	0	0	0	1	0	0	0	8082	652	23	2	298	2	KCNQ1	11	2466624	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		2466624	132539892	26	1715											
OR5M8	219484	broad.mit.edu	37	11	56258561	56258561	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr11:56258561A>G	uc001nix.1	-	0	286	c.286T>C	c.(286-288)Tgt>Cgt	p.C96R	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGCACAAGACAGGCAGGATAG	0.473													G	56258561	A	G	56258561	3	3	27	1	0	0	0	0	1	0	0	0	11176	188	7	4	653	4	OR5M8	11	56258561	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	53791937	56258561	78747955	27	1716											
VWF	7450	broad.mit.edu	37	12	6122757	6122757	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:6122757C>T	uc001qnn.1	-	31	5760	c.5510G>A	c.(5509-5511)cGg>cAg	p.R1837Q	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1837	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCCAAGATCCGTAGCTGGGC	0.532													T	6122757	C	T	6122757	3	4	27	1	0	0	0	0	1	0	0	0	17243	652	23	2	3015	2	VWF	12	6122757	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		6122757	127729138	28	1717											
TAS2R13	50838	broad.mit.edu	37	12	11061487	11061487	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:11061487G>A	uc001qzg.1	-	0	675	c.411C>T	c.(409-411)acC>acT	p.T137T	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.	137					sensory perception of taste	integral to membrane	taste receptor activity	p.T137T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAAGACCAAGGTTCCTAGCA	0.353													A	11061487	G	A	11061487	2	1	27	1	0	0	0	0	0	0	0	1	15564	987	35	3		3	TAS2R13	12	11061487	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08	4938730	11061487	122790408	29	1718											
TRPV4	59341	broad.mit.edu	37	12	110236432	110236432	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:110236432G>A	uc001tpj.2	-	4	1234	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	TRPV4_uc001tpg.2_Missense_Mutation_p.T346M|TRPV4_uc021rdp.1_Missense_Mutation_p.T380M|TRPV4_uc001tph.2_Missense_Mutation_p.T333M|TRPV4_uc001tpi.2_Missense_Mutation_p.T333M|TRPV4_uc001tpk.2_Missense_Mutation_p.T380M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	380					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AATCTTGCCCGTCTTGGCAGC	0.612													A	110236432	G	A	110236432	3	1	27	1	0	0	0	0	1	0	0	0	16595	1145	40	1	1520	1	TRPV4	12	110236432	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	99174945	110236432	23615463	30	1719											
HPD	3242	broad.mit.edu	37	12	122292681	122292681	+	Silent	SNP	G	G	A	rs61742674	byFrequency	TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:122292681G>A	uc001ubj.3	-	6	382	c.342C>T	c.(340-342)ggC>ggT	p.G114G	HPD_uc001ubk.3_Silent_p.G75G	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	114					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	p.R113L(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGATTTTGGCGCCCCGTTCCC	0.597													A	122292681	G	A	122292681	2	1	27	1	0	0	0	0	0	0	0	1	7332	1074	38	1		1	HPD	12	122292681	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08	12056249	122292681	11559214	31	1720											
COL4A1	1282	broad.mit.edu	37	13	110895031	110895031	+	Silent	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr13:110895031C>T	uc001vqw.4	-	1	257	c.135G>A	c.(133-135)aaG>aaA	p.K45K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	45					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTTGTCCCTTCACTCCAT	0.408													T	110895031	C	T	110895031	2	4	27	1	0	0	0	0	0	0	0	1	3689	680	24	3		3	COL4A1	13	110895031	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08		110895031	4274847	32	1721											
KCNH5	27133	broad.mit.edu	37	14	63316465	63316465	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr14:63316465A>T	uc001xfx.3	-	7	1526	c.1475T>A	c.(1474-1476)cTa>cAa	p.L492Q	KCNH5_uc001xfy.3_Missense_Mutation_p.L492Q|KCNH5_uc001xfz.1_Missense_Mutation_p.L434Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	492					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATAGAGTTTTAGGAAGTCCCG	0.393													T	63316465	A	T	63316465	3	4	27	1	0	0	0	0	1	0	0	0	8035	420	15	5	1541	5	KCNH5	14	63316465	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08		63316465	44033075	33	1722											
IGF1R	3480	broad.mit.edu	37	15	99250943	99250943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr15:99250943G>T	uc002bul.3	+	1	297	c.247G>T	c.(247-249)Gag>Tag	p.E83*	IGF1R_uc010urq.2_Nonsense_Mutation_p.E83*|IGF1R_uc010bon.3_Nonsense_Mutation_p.E83*	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	83					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGTCATTACCGAGTACTTGCT	0.597													T	99250943	G	T	99250943	4	4	27	1	0	0	0	0	0	1	0	0	7571	1059	37	5	253	5	IGF1R	15	99250943	Nonsense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		99250943	3280449	34	1723											
WDR90	197335	broad.mit.edu	37	16	701986	701986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:701986G>A	uc002cii.1	+	8	1054	c.1000G>A	c.(1000-1002)Gtg>Atg	p.V334M	WDR90_uc002cig.1_Missense_Mutation_p.V334M|WDR90_uc002cih.1_Missense_Mutation_p.V335M|WDR90_uc002cij.1_Non-coding_Transcript	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	334								p.H333N(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGGCACCCACGTGTTGACTCA	0.687													A	701986	G	A	701986	3	1	27	1	0	0	0	0	1	0	0	0	17334	1145	40	1	1034	1	WDR90	16	701986	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		701986	89652767	35	1724											
RHBDL1	9028	broad.mit.edu	37	16	727080	727080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:727080G>A	uc002cis.1	+	2	758	c.731G>A	c.(730-732)cGc>cAc	p.R244H	RHBDL1_uc002cir.1_Missense_Mutation_p.R179H|RHBDL1_uc010uun.1_Missense_Mutation_p.R179H	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	244					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CACCGTGCCCGCGCCTGGCGC	0.617													A	727080	G	A	727080	3	1	27	1	0	0	0	0	1	0	0	0	13321	1087	38	1	741	1	RHBDL1	16	727080	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	25094	727080	89627673	36	1725											
SLC12A4	6560	broad.mit.edu	37	16	67984224	67984224	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:67984224G>A	uc010vkj.1	-	10	1673	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	SLC12A4_uc010ceu.2_Missense_Mutation_p.R537W|SLC12A4_uc010vkh.1_Missense_Mutation_p.R512W|SLC12A4_uc002euz.2_Missense_Mutation_p.R543W|SLC12A4_uc010vki.1_Missense_Mutation_p.R543W|SLC12A4_uc002eva.2_Missense_Mutation_p.R543W|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	543					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGCTCACCCGGAGGAAGGGG	0.642													A	67984224	G	A	67984224	3	1	27	1	0	0	0	0	1	0	0	0	14385	1115	39	2	1682	2	SLC12A4	16	67984224	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	67257144	67984224	22370529	37	1726											
CDH15	1013	broad.mit.edu	37	16	89261311	89261311	+	Silent	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:89261311C>T	uc002fmt.3	+	13	2270	c.2193C>T	c.(2191-2193)taC>taT	p.Y731Y		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	731					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGCCGCCTTACGACACAGCCC	0.637													T	89261311	C	T	89261311	2	4	27	1	0	0	0	0	0	0	0	1	3100	547	19	1		1	CDH15	16	89261311	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	21277087	89261311	1093442	38	1727											
DNAH9	1770	broad.mit.edu	37	17	11648135	11648135	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:11648135C>T	uc002gne.3	+	30	6201	c.6133C>T	c.(6133-6135)Cgg>Tgg	p.R2045W	DNAH9_uc010coo.3_Missense_Mutation_p.R1339W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2045	AAA 1 (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.R2045R(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)		CTGGGGCCTACGGGCCATCAA	0.557													T	11648135	C	T	11648135	3	4	27	1	0	0	0	0	1	0	0	0	4608	527	19	1	6255	1	DNAH9	17	11648135	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		11648135	69547075	39	1728											
SNX11	29916	broad.mit.edu	37	17	46198838	46198838	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:46198838C>A	uc002inf.1	+	7	1135	c.781C>A	c.(781-783)Cct>Act	p.P261T	SNX11_uc010wlg.1_Missense_Mutation_p.P253T|SNX11_uc002ing.1_Missense_Mutation_p.P261T|SNX11_uc010wlh.1_Missense_Mutation_p.P253T|SNX11_uc010wli.1_Missense_Mutation_p.P200T|SNX11_uc010wlj.1_Missense_Mutation_p.P117T|SNX11_uc002inh.1_Missense_Mutation_p.P261T	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA.	261					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GCCTTTGGACCCTGGTCAGTT	0.522													A	46198838	C	A	46198838	3	1	27	1	0	0	0	0	1	0	0	0	14882	623	22	5	803	5	SNX11	17	46198838	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	34550703	46198838	34996372	40	1729											
TNRC6C	57690	broad.mit.edu	37	17	76089149	76089149	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:76089149G>A	uc002jud.2	+	15	4706	c.4106G>A	c.(4105-4107)cGt>cAt	p.R1369H	TNRC6C_uc002juf.2_Missense_Mutation_p.R1366H	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1369					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGGTCACGTGCCAAATCT	0.502													A	76089149	G	A	76089149	3	1	27	1	0	0	0	0	1	0	0	0	16339	1145	40	1	4156	1	TNRC6C	17	76089149	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	29890311	76089149	5106061	41	1730											
UTS2R	2837	broad.mit.edu	37	17	80332216	80332216	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:80332216G>A	uc010wvl.2	+	0	16	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	6						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCTGACCCCCGAGTCCCCGAG	0.721													A	80332216	G	A	80332216	3	1	27	1	0	0	0	0	1	0	0	0	17103	1059	37	2	18	2	UTS2R	17	80332216	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	4243067	80332216	862994	42	1731											
LAMA1	284217	broad.mit.edu	37	18	7023335	7023335	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr18:7023335G>A	uc002knm.3	-	18	2623	c.2529C>T	c.(2527-2529)ggC>ggT	p.G843G	LAMA1_uc010wzj.2_Silent_p.G319G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	843	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G843V(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACAAGATTCGCCAGGCACTG	0.527													A	7023335	G	A	7023335	2	1	27	1	0	0	0	0	0	0	0	1	8605	1074	38	1		1	LAMA1	18	7023335	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		7023335	71053913	43	1732											
MUC16	94025	broad.mit.edu	37	19	9063659	9063659	+	Silent	SNP	A	A	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:9063659A>T	uc002mkp.3	-	2	23991	c.23787T>A	c.(23785-23787)tcT>tcA	p.S7929S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7931	Ser-rich.|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						TCATTGTCAAAGAGGTTGTGC	0.458													T	9063659	A	T	9063659	2	4	27	1	0	0	0	0	0	0	0	1	9973	59	3	5		5	MUC16	19	9063659	Silent	SNP	A	TCGA-06-0157-01A-01D-1491-08		9063659	50065324	44	1733											
FFAR1	2864	broad.mit.edu	37	19	35842837	35842837	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:35842837C>T	uc002nzc.2	+	0	393	c.383C>T	c.(382-384)gCg>gTg	p.A128V		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	128					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GGGGTGTGCGCGGCCATCTGG	0.667													T	35842837	C	T	35842837	3	4	27	1	0	0	0	0	1	0	0	0	5827	768	27	1	385	1	FFAR1	19	35842837	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	26779178	35842837	23286146	45	1734											
ZFP82	284406	broad.mit.edu	37	19	36884449	36884449	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:36884449C>T	uc002ody.1	-	4	1028	c.793G>A	c.(793-795)Gta>Ata	p.V265I		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V265L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTCGTACCCTAAAAGCC	0.433													T	36884449	C	T	36884449	3	4	27	1	0	0	0	0	1	0	0	0	17650	507	18	3	809	3	ZFP82	19	36884449	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	1041612	36884449	22244534	46	1735											
MEIS3	56917	broad.mit.edu	37	19	47910342	47910342	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:47910342G>A	uc002pgq.3	-	9	1297	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	MEIS3_uc002pgo.3_Missense_Mutation_p.R129C|MEIS3_uc002pgp.3_Missense_Mutation_p.R162C|MEIS3_uc002pgr.3_Missense_Mutation_p.R198C|MEIS3_uc002pgs.3_Missense_Mutation_p.R376C|MEIS3_uc002pgt.3_Missense_Mutation_p.R313C|MEIS3_uc010eld.3_Missense_Mutation_p.R376C	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	330						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTACCTGTGCGGTTGGATTGA	0.612													A	47910342	G	A	47910342	3	1	27	1	0	0	0	0	1	0	0	0	9469	1116	39	2	151	2	MEIS3	19	47910342	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	11025893	47910342	11218641	47	1736											
SIGLEC5	8778	broad.mit.edu	37	19	52129355	52129355	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:52129355C>T	uc002pxe.3	-	7	1533	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	465					cell adhesion	integral to membrane	sugar binding	p.A464A(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)		TTGCTTCCTGCGGGCTTTCAC	0.527													T	52129355	C	T	52129355	3	4	27	1	0	0	0	0	1	0	0	0	14311	768	27	1	269	1	SIGLEC5	19	52129355	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	4219013	52129355	6999628	48	1737											
ZNF419	79744	broad.mit.edu	37	19	58004984	58004984	+	Silent	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:58004984C>T	uc010ety.1	+	4	1302	c.1062C>T	c.(1060-1062)agC>agT	p.S354S	ZNF419_uc002qov.2_Silent_p.S353S|ZNF419_uc010etz.1_Silent_p.S341S|ZNF419_uc002qow.2_Silent_p.S321S|ZNF419_uc010eua.1_Silent_p.S340S|ZNF419_uc010eub.1_Silent_p.S308S|ZNF419_uc010euc.1_Silent_p.S307S	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AATTCTATAGCCACAAGTCCA	0.413													T	58004984	C	T	58004984	2	4	27	1	0	0	0	0	0	0	0	1	17893	738	26	3		3	ZNF419	19	58004984	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	5875629	58004984	1123999	49	1738											
ZNF773	374928	broad.mit.edu	37	19	58018486	58018486	+	Silent	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:58018486C>T	uc002qox.3	+	3	1163	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	ZNF773_uc002qoy.3_Silent_p.S340S|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0254)		AATTCTATAGCCACAAGTCCA	0.418													T	58018486	C	T	58018486	2	4	27	1	0	0	0	0	0	0	0	1	18143	738	26	3		3	ZNF773	19	58018486	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	13502	58018486	1110497	50	1739											
C20orf27	54976	broad.mit.edu	37	20	3735070	3735070	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:3735070C>T	uc002wjh.1	-	4	702	c.473G>A	c.(472-474)cGc>cAc	p.R158H	C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wji.1_Missense_Mutation_p.R133H	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	Homo sapiens chromosome 20 open reading frame 27 (C20orf27), mRNA.	133										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						CACCGTCACGCGCACACAGGT	0.602													T	3735070	C	T	3735070	3	4	27	1	0	0	0	0	1	0	0	0	2107	768	27	1	134	1	C20orf27	20	3735070	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		3735070	59290450	51	1740											
HAO1	54363	broad.mit.edu	37	20	7864254	7864254	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:7864254C>T	uc002wmw.1	-	7	1123	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I		NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	367					cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.V367F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCTTGGAAACGGCCAAAGGA	0.373													T	7864254	C	T	7864254	3	4	27	1	0	0	0	0	1	0	0	0	6951	536	19	1	17	1	HAO1	20	7864254	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	4129184	7864254	55161266	52	1741											
PTK6	5753	broad.mit.edu	37	20	62168644	62168644	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:62168644G>T	uc002yfg.3	-	0	64	c.24C>A	c.(22-24)caC>caA	p.H8Q	PTK6_uc011aay.2_5'UTR|PTK6_uc011aba.2_Missense_Mutation_p.H8Q	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	8						cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TGGGGCCCAGGTGAGCCTGGT	0.716													T	62168644	G	T	62168644	3	4	27	1	0	0	0	0	1	0	0	0	12764	1252	44	5	1363	5	PTK6	20	62168644	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	54304390	62168644	856876	53	1742											
KRTAP13-2	337959	broad.mit.edu	37	21	31744289	31744289	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr21:31744289G>A	uc002ynz.4	-	0	269	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA.	81	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TTCTGGGGCGGTAGCAGGAGG	0.602													A	31744289	G	A	31744289	2	1	27	1	0	0	0	0	0	0	0	1	8523	1256	44	3		3	KRTAP13-2	21	31744289	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		31744289	16385606	54	1743											
KRTAP10-12	386685	broad.mit.edu	37	21	46117748	46117748	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr21:46117748T>C	uc002zfw.1	+	0	662	c.632T>C	c.(631-633)gTc>gCc	p.V211A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	211	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CGCGTGCCCGTCCCCTCCTGC	0.726													C	46117748	T	C	46117748	3	2	27	1	0	0	0	0	1	0	0	0	8508	1667	58	4	634	4	KRTAP10-12	21	46117748	Missense_Mutation	SNP	T	TCGA-06-0157-01A-01D-1491-08	14373459	46117748	2012147	55	1744											
EGFL6	25975	broad.mit.edu	37	X	13637337	13637337	+	Silent	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:13637337G>A	uc004cvj.3	+	8	1445	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	EGFL6_uc004cvi.3_Silent_p.A386A|EGFL6_uc011mik.1_Silent_p.A287A	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	386					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAGGAAAGCGCTAACTTCCA	0.388													A	13637337	G	A	13637337	2	1	27	1	0	0	0	0	0	0	0	1	4963	1074	38	1		1	EGFL6	23	13637337	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		13637337	141633223	56	1745											
RPS6KA3	6197	broad.mit.edu	37	X	20193367	20193367	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:20193367A>T	uc004czu.3	-	13	1142	c.1142T>A	c.(1141-1143)cTt>cAt	p.L381H	RPS6KA3_uc011mjk.2_Missense_Mutation_p.L352H|RPS6KA3_uc004czv.3_Missense_Mutation_p.L369H|RPS6KA3_uc011mjl.2_Missense_Mutation_p.L353H|RPS6KA3_uc011mjm.2_Missense_Mutation_p.L353H	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	381	AGC-kinase C-terminal.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	p.L381H(2)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CCCCCGAAAAAGCTGATGTGC	0.393													T	20193367	A	T	20193367	3	4	27	1	0	0	0	0	1	0	0	0	13652	72	3	5	1116	5	RPS6KA3	23	20193367	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	6556030	20193367	135077193	57	1746											
XK	7504	broad.mit.edu	37	X	37553630	37553630	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:37553630G>T	uc004ddq.3	+	1	419	c.337G>T	c.(337-339)Ggc>Tgc	p.G113C		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	113					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GCCAAAAAATGGCCTCTCAGA	0.488													T	37553630	G	T	37553630	3	4	27	1	0	0	0	0	1	0	0	0	17428	1348	47	5	343	5	XK	23	37553630	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	17360263	37553630	117716930	58	1747											
SYP	6855	broad.mit.edu	37	X	49048172	49048172	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:49048172C>T	uc004dmz.1	-	5	680	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	SYP_uc011mmz.1_Missense_Mutation_p.V104M	NM_003179	NP_003170	P08247	SYPH_HUMAN	Homo sapiens synaptophysin (SYP), mRNA.	222	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	p.V222M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				TCCTTAAACACGAACCACAGG	0.682													T	49048172	C	T	49048172	3	4	27	1	0	0	0	0	1	0	0	0	15458	536	19	1	281	1	SYP	23	49048172	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	11494542	49048172	106222388	59	1748											
AWAT1	158833	broad.mit.edu	37	X	69455983	69455983	+	Silent	SNP	C	C	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:69455983C>A	uc004dxy.3	+	2	290	c.249C>A	c.(247-249)ccC>ccA	p.P83P		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	83					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						ACTATTTCCCCATTACGGTAA	0.483													A	69455983	C	A	69455983	2	1	27	1	0	0	0	0	0	0	0	1	1234	581	21	5		5	AWAT1	23	69455983	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	20407811	69455983	85814577	60	1749											
NONO	4841	broad.mit.edu	37	X	70516705	70516705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:70516705C>T	uc004dzo.3	+	7	1461	c.751C>T	c.(751-753)Cga>Tga	p.R251*	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Nonsense_Mutation_p.R251*|NONO_uc004dzp.3_Nonsense_Mutation_p.R251*|NONO_uc011mpv.2_Nonsense_Mutation_p.R162*|NONO_uc004dzq.3_Nonsense_Mutation_p.R120*	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	251	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTATAGGGAACGAGAGCAGCC	0.493			T	TFE3	papillary renal cancer								T	70516705	C	T	70516705	4	4	27	1	0	0	0	0	0	1	0	0	10534	528	19	1	769	1	NONO	23	70516705	Nonsense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	1060722	70516705	84753855	61	1750											
GPR101	83550	broad.mit.edu	37	X	136113395	136113395	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:136113395G>A	uc011mwh.2	-	0	439	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	147						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R146H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGGTAACCGCGGCGCTGGGTC	0.597													A	136113395	G	A	136113395	3	1	27	1	0	0	0	0	1	0	0	0	6622	1116	39	2	1090	2	GPR101	23	136113395	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	65596690	136113395	19157165	62	1751											
TDRD10	126668	broad.mit.edu	37	1	154516937	154516937	+	Silent	SNP	C	C	T	rs151222618	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:154516937C>T	uc009wow.3	+	9	1579	c.741C>T	c.(739-741)cgC>cgT	p.R247R	TDRD10_uc001ffd.3_Silent_p.R247R|TDRD10_uc001ffe.3_Silent_p.R168R	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	247	Tudor.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTTATGCGCGGGACTCGCT	0.632													T	154516937	C	T	154516937	2	4	28	1	0	0	0	0	0	0	0	1	15728	755	27	1		1	TDRD10	1	154516937	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08		154516937	94733684	1	1752											
LY9	4063	broad.mit.edu	37	1	160784327	160784327	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:160784327T>G	uc001fwu.3	+	3	898	c.848T>G	c.(847-849)tTg>tGg	p.L283W	LY9_uc010pjs.1_Missense_Mutation_p.L283W|LY9_uc001fwv.3_Missense_Mutation_p.L283W|LY9_uc001fww.3_Missense_Mutation_p.L283W|LY9_uc001fwy.1_Missense_Mutation_p.L185W|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	283	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTTGTCTGGTTGTTTAACACA	0.547													G	160784327	T	G	160784327	3	3	28	1	0	0	0	0	1	0	0	0	9101	1821	63	5	994	5	LY9	1	160784327	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08	6267390	160784327	88466294	2	1753											
CR2	1380	broad.mit.edu	37	1	207647215	207647215	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:207647215C>T	uc001hfw.3	+	10	2167	c.2048C>T	c.(2047-2049)aCg>aTg	p.T683M	CR2_uc001hfv.3_Missense_Mutation_p.T742M|CR2_uc009xch.3_Missense_Mutation_p.T683M	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	683	Sushi 11.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAGTTAATACGTCCTGCCAA	0.438													T	207647215	C	T	207647215	3	4	28	1	0	0	0	0	1	0	0	0	3842	536	19	1	2271	1	CR2	1	207647215	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	46862888	207647215	41603406	3	1754											
ACBD3	64746	broad.mit.edu	37	1	226347010	226347010	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:226347010G>C	uc001hpy.3	-	4	825	c.778C>G	c.(778-780)Cag>Gag	p.Q260E		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	260	Gln-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GCTGCATACTGCTGGAACTGC	0.448													C	226347010	G	C	226347010	3	2	28	1	0	0	0	0	1	0	0	0	123	1328	46	5	824	5	ACBD3	1	226347010	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	18699795	226347010	22903611	4	1755											
NUP133	55746	broad.mit.edu	37	1	229577744	229577744	+	Silent	SNP	T	T	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:229577744T>C	uc001htn.3	-	25	3470	c.3378A>G	c.(3376-3378)ctA>ctG	p.L1126L		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	1126					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GATCCGCTTGTAGCAGGTCTT	0.343													C	229577744	T	C	229577744	2	2	28	1	0	0	0	0	0	0	0	1	10754	1625	57	4		4	NUP133	1	229577744	Silent	SNP	T	TCGA-06-0158-01A-01D-1491-08	3230734	229577744	19672877	5	1756											
OR13G1	441933	broad.mit.edu	37	1	247836129	247836129	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:247836129G>T	uc001idi.1	-	0	215	c.215C>A	c.(214-216)aCa>aAa	p.T72K		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			TATGATGCTTGTTGTGCAGAT	0.443													T	247836129	G	T	247836129	3	4	28	1	0	0	0	0	1	0	0	0	10942	1377	48	5	712	5	OR13G1	1	247836129	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	18258385	247836129	1414492	6	1757											
OR2L8	391190	broad.mit.edu	37	1	248112665	248112665	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:248112665G>A	uc001idt.1	+	0	506	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			CCTTATTGCCGATCCAGGGCC	0.478													A	248112665	G	A	248112665	3	1	28	1	0	0	0	0	1	0	0	0	11009	1058	37	2	508	2	OR2L8	1	248112665	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	276536	248112665	1137956	7	1758											
SLC3A1	6519	broad.mit.edu	37	2	44527119	44527119	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:44527119C>T	uc002ruc.4	+	4	979	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	SLC3A1_uc002rty.3_Missense_Mutation_p.R301W|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301W|SLC3A1_uc002rua.3_Missense_Mutation_p.R301W|SLC3A1_uc002rub.2_Missense_Mutation_p.R301W|SLC3A1_uc002rud.4_Missense_Mutation_p.R23W	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	301					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGAAATTTTACGGTTCTGGCT	0.363													T	44527119	C	T	44527119	3	4	28	1	0	0	0	0	1	0	0	0	14626	527	19	1	919	1	SLC3A1	2	44527119	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		44527119	198672254	8	1759											
TSPYL6	388951	broad.mit.edu	37	2	54483145	54483145	+	Silent	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:54483145C>G	uc002rxr.2	-	0	265	c.144G>C	c.(142-144)gtG>gtC	p.V48V	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	48					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCGGTGGGAACACGATTGGCT	0.607													G	54483145	C	G	54483145	2	3	28	1	0	0	0	0	0	0	0	1	16660	465	17	5		5	TSPYL6	2	54483145	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	9956026	54483145	188716228	9	1760											
C2orf62	375307	broad.mit.edu	37	2	219222293	219222293	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:219222293C>T	uc002vhr.3	+	2	184	c.155C>T	c.(154-156)aCg>aTg	p.T52M		NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	52										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCTGAGACGCTGGCCATG	0.577													T	219222293	C	T	219222293	3	4	28	1	0	0	0	0	1	0	0	0	2181	536	19	1	165	1	C2orf62	2	219222293	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	164739148	219222293	23977080	10	1761											
DES	1674	broad.mit.edu	37	2	220290674	220290674	+	Missense_Mutation	SNP	G	G	A	rs73991549	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:220290674G>A	uc002vll.3	+	8	1461	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	459	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	p.V459I(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCCCAGGTCGTCAGTGAGGC	0.607													A	220290674	G	A	220290674	3	1	28	1	0	0	0	0	1	0	0	0	4449	1145	40	1	1409	1	DES	2	220290674	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	1068381	220290674	22908699	11	1762											
KCNH8	131096	broad.mit.edu	37	3	19575121	19575121	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:19575121A>T	uc003cbk.1	+	15	3049	c.2854A>T	c.(2854-2856)Agt>Tgt	p.S952C	KCNH8_uc010hex.1_Missense_Mutation_p.S413C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	952	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACTTTGTAGCAGTAATATCAC	0.532													T	19575121	A	T	19575121	3	4	28	1	0	0	0	0	1	0	0	0	8038	188	7	5	2916	5	KCNH8	3	19575121	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08		19575121	178447309	12	1763											
CCR8	1237	broad.mit.edu	37	3	39374303	39374303	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:39374303G>A	uc010hhr.2	+	1	619	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	CCR8_uc003cjm.2_Missense_Mutation_p.A78T|CCR8_uc021wwe.1_Missense_Mutation_p.A161T	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	161					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATGGCTAACCGCCATTATGGC	0.488													A	39374303	G	A	39374303	3	1	28	1	0	0	0	0	1	0	0	0	2947	1087	38	1	483	1	CCR8	3	39374303	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	19799182	39374303	158648127	13	1764											
MST1	4485	broad.mit.edu	37	3	49724141	49724144	+	Frame_Shift_Del	DEL	CTCG	CTCG	-			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:49724141_49724144delCTCG	uc003cxg.3	-	6	892_895	c.820_823delCGAG	c.(820-825)cgagagfs	p.R274fs	MST1_uc011bcs.1_Frame_Shift_Del_p.S272fs|MST1_uc010hkx.2_Frame_Shift_Del_p.R195fs|MST1_uc011bct.1_Frame_Shift_Del_p.R274fs|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	260					proteolysis	extracellular region	serine-type endopeptidase activity	p.R275H(1)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCACAGAACTCTCGCTCGATCTGC	0.662													-	49724144	CTCG	-	49724141	7	5	28	1	0	1	0	1	0	0	0	0	9890	922	32	0	1402	0	MST1	3	49724141	Frame_Shift_Del	DEL	CTCG	TCGA-06-0158-01A-01D-1491-08	10349838	49724141	148298289	14	1765											
COL6A6	131873	broad.mit.edu	37	3	130284156	130284156	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:130284156G>A	uc010htl.3	+	2	1011	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	327	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATGGCAGTCGGAAGAATCAG	0.532													A	130284156	G	A	130284156	3	1	28	1	0	0	0	0	1	0	0	0	3703	1116	39	2	990	2	COL6A6	3	130284156	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	80560015	130284156	67738274	15	1766											
AMBN	258	broad.mit.edu	37	4	71467259	71467259	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr4:71467259T>A	uc003hfl.3	+	5	520	c.419T>A	c.(418-420)cTg>cAg	p.L140Q		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	140					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCCACAGCACTGAAAGAAGCA	0.557											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	71467259	T	A	71467259	3	1	28	1	0	0	0	0	1	0	0	0	563	1580	55	5	441	5	AMBN	4	71467259	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08		71467259	119687017	16	1767											
ADAM29	11086	broad.mit.edu	37	4	175896768	175896768	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr4:175896768C>T	uc003iuc.3	+	4	762	c.92C>T	c.(91-93)cCg>cTg	p.P31L	ADAM29_uc003iud.3_Missense_Mutation_p.P31L|ADAM29_uc010irr.3_Missense_Mutation_p.P31L|ADAM29_uc011cki.2_Missense_Mutation_p.P31L|ADAM29_uc021xuo.1_Missense_Mutation_p.P31L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	31			P -> L (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.P31L(4)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CACAGCCCTCCGGATGTGGTG	0.517													T	175896768	C	T	175896768	3	4	28	1	0	0	0	0	1	0	0	0	247	652	23	2	94	2	ADAM29	4	175896768	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	104429509	175896768	15257508	17	1768											
ZDHHC11	79844	broad.mit.edu	37	5	837585	837585	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:837585C>T	uc011cma.1	-	5	1179	c.795G>A	c.(793-795)aaG>aaA	p.K265K	ZDHHC11_uc010itd.1_Non-coding_Transcript	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	265						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGGTGGTCATCTTCTTGGCCT	0.502													T	837585	C	T	837585	2	4	28	1	0	0	0	0	0	0	0	1	17598	912	32	3		3	ZDHHC11	5	837585	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08		837585	180077675	18	1769											
EDIL3	10085	broad.mit.edu	37	5	83433171	83433171	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:83433171G>A	uc003kio.1	-	5	775	c.356_splice	c.e5-1	p.N119_splice	EDIL3_uc003kip.1_Splice_Site_p.N109_splice	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	119	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATTCATTTATGTCTAAGAAAA	0.338													A	83433171	G	A	83433171	2	1	28	1	0	0	0	0	0	0	0	1	4915	1391	48	3		3	EDIL3	5	83433171	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	82595586	83433171	97482089	19	1770											
PCDHGC5	56106	broad.mit.edu	37	5	140794507	140794507	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:140794507G>A	uc003lkl.2	+	0	1765	c.1765G>A	c.(1765-1767)Ggc>Agc	p.G589S	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.G589S|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	586	Cadherin 6.				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)			CGCAGAGCCCGGCTACCTGGT	0.677													A	140794507	G	A	140794507	3	1	28	1	0	0	0	0	1	0	0	0	11571	1116	39	2		2	PCDHGC5	5	140794507	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	57361336	140794507	40120753	20	1771											
TRIM38	10475	broad.mit.edu	37	6	25966964	25966964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:25966964C>T	uc003nfm.3	+	2	649	c.214C>T	c.(214-216)Cga>Tga	p.R72*		NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	72					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GGATAGCCTCCGACCCAACAA	0.498													T	25966964	C	T	25966964	4	4	28	1	0	0	0	0	0	1	0	0	16509	644	23	2	216	2	TRIM38	6	25966964	Nonsense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		25966964	145148103	21	1772											
HLA-F	3134	broad.mit.edu	37	6	29694676	29694676	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:29694676C>T	uc003nno.4	+	6	1177	c.1053C>T	c.(1051-1053)agC>agT	p.S351S	HLA-F_uc011dlx.1_Silent_p.S351S|HLA-F_uc011dly.1_Non-coding_Transcript|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	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						CAGTGGTCAGCGGAAACTTGA	0.493													T	29694676	C	T	29694676	2	4	28	1	0	0	0	0	0	0	0	1	7211	767	27	1		1	HLA-F	6	29694676	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	3727712	29694676	141420391	22	1773											
CRISP3	10321	broad.mit.edu	37	6	49704218	49704218	+	Silent	SNP	A	A	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:49704218A>G	uc021zai.1	-	2	232	c.144T>C	c.(142-144)gaT>gaC	p.D48D	CRISP3_uc003ozs.3_Silent_p.D38D	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	25					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAAAAGCGGGATCCTAAGGGA	0.363													G	49704218	A	G	49704218	2	3	28	1	0	0	0	0	0	0	0	1	3881	330	12	4		4	CRISP3	6	49704218	Silent	SNP	A	TCGA-06-0158-01A-01D-1491-08	20009542	49704218	121410849	23	1774											
POM121L12	285877	broad.mit.edu	37	7	53103391	53103391	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:53103391C>T	uc003tpz.3	+	0	43	c.27C>T	c.(25-27)tcC>tcT	p.S9S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	9										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGCCGAGTCCGCAGACCTCG	0.697													T	53103391	C	T	53103391	2	4	28	1	0	0	0	0	0	0	0	1	12241	639	23	2		2	POM121L12	7	53103391	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08		53103391	106035272	24	1775											
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211080	G	A	55211080	3	1	28	1	0	0	0	0	1	0	0	0	4967	942	33	3	333	3	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	2107689	55211080	103927583	25	1776											
EGFR	1956	broad.mit.edu	37	7	55233036	55233036	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55233036C>T	uc003tqk.3	+	14	2032	c.1786C>T	c.(1786-1788)Ccg>Tcg	p.P596S	EGFR_uc003tqi.3_Missense_Mutation_p.P596S|EGFR_uc003tqj.3_Missense_Mutation_p.P596S|EGFR_uc022adm.1_Missense_Mutation_p.P596S|EGFR_uc010kzg.2_Missense_Mutation_p.P551S|EGFR_uc022adn.1_Missense_Mutation_p.P551S|EGFR_uc011kco.2_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGACCTGCCCGGCAGGAGT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233036	C	T	55233036	3	4	28	1	0	0	0	0	1	0	0	0	4967	623	22	3	1855	3	EGFR	7	55233036	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	21956	55233036	103905627	26	1777	1	2									
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	C	rs139236063		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55233043G>C	uc003tqk.3	+	14	2039	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55233043	G	C	55233043	3	2	28	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	7	55233043	103905620	27	1778	1	2									
PCLO	27445	broad.mit.edu	37	7	82764904	82764904	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:82764904C>T	uc003uhx.2	-	2	2251	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P	PCLO_uc003uhv.2_Silent_p.P654P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	600	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P654P(3)|p.P600P(1)		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						GGGGTGATGACGGAACTGGAG	0.478													T	82764904	C	T	82764904	2	4	28	1	0	0	0	0	0	0	0	1	11583	523	19	1		1	PCLO	7	82764904	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	27531861	82764904	76373759	28	1779											
NPTX2	4885	broad.mit.edu	37	7	98254472	98254472	+	Silent	SNP	C	C	T	rs149672697		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:98254472C>T	uc003upl.2	+	2	1059	c.882C>T	c.(880-882)aaC>aaT	p.N294N		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	294	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.N294N(2)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTCATCAACGACAAGGTGA	0.667													T	98254472	C	T	98254472	2	4	28	1	0	0	0	0	0	0	0	1	10603	535	19	1		1	NPTX2	7	98254472	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	15489568	98254472	60884191	29	1780											
LAMB1	3912	broad.mit.edu	37	7	107600136	107600136	+	Missense_Mutation	SNP	G	G	A	rs140619520		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:107600136G>A	uc003vev.2	-	17	2691	c.2530_splice	c.e17+1	p.P844_splice	LAMB1_uc003vew.2_Splice_Site_p.P820_splice|LAMB1_uc003vex.3_Missense_Mutation_p.R820C	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	820	Laminin EGF-like 7.				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.P820S(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)	AGGAACCTACGTTTGCATCCA	0.527													A	107600136	G	A	107600136	3	1	28	1	0	0	0	0	1	0	0	0	8610	1159	40	1	2966	1	LAMB1	7	107600136	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	9345664	107600136	51538527	30	1781											
ASB15	142685	broad.mit.edu	37	7	123276864	123276864	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:123276864G>A	uc003vku.1	+	12	1887	c.1595_splice	c.e12-1	p.E532_splice	ASB15_uc003vkw.1_Splice_Site_p.E532_splice	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	532	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTCTTTTAGAGAATCCTTGTT	0.383													A	123276864	G	A	123276864	2	1	28	1	0	0	0	0	0	0	0	1	1019	956	33	3		3	ASB15	7	123276864	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	15676728	123276864	35861799	31	1782											
NUP205	23165	broad.mit.edu	37	7	135300745	135300745	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:135300745G>A	uc003vsw.3	+	23	3423	c.3392G>A	c.(3391-3393)cGt>cAt	p.R1131H		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1131					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			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						TCTCTGAATCGTCAGCGGTCA	0.403													A	135300745	G	A	135300745	3	1	28	1	0	0	0	0	1	0	0	0	10759	1145	40	1	3486	1	NUP205	7	135300745	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	12023881	135300745	23837918	32	1783											
TRPA1	8989	broad.mit.edu	37	8	72948640	72948640	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr8:72948640G>A	uc003xza.3	-	20	2613	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	813						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)	GATGCCCGTCGTGTAGATAAT	0.363													A	72948640	G	A	72948640	3	1	28	1	0	0	0	0	1	0	0	0	16574	1145	40	1	949	1	TRPA1	8	72948640	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		72948640	73415382	33	1784											
SPTAN1	6709	broad.mit.edu	37	9	131395212	131395212	+	Missense_Mutation	SNP	T	T	A	rs148173166		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr9:131395212T>A	uc004bvl.4	+	54	7413	c.7271T>A	c.(7270-7272)gTg>gAg	p.V2424E	SPTAN1_uc004bvm.4_Missense_Mutation_p.V2429E|SPTAN1_uc004bvn.4_Missense_Mutation_p.V2404E|SPTAN1_uc004bvo.4_Missense_Mutation_p.V191E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	2424	EF-hand 3.				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			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						AAGCCTTACGTGACCAAGGAG	0.547													A	131395212	T	A	131395212	3	1	28	1	0	0	0	0	1	0	0	0	15116	1696	59	5	7504	5	SPTAN1	9	131395212	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08		131395212	9818219	34	1785											
C9orf171	389799	broad.mit.edu	37	9	135374872	135374872	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr9:135374872G>C	uc004cbn.3	+	3	565	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	C9orf171_uc004cbo.3_Missense_Mutation_p.E137Q	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	173								p.R172W(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACTGCCCGGGAGAACTTGCT	0.592													C	135374872	G	C	135374872	3	2	28	1	0	0	0	0	1	0	0	0	2470	1175	41	5	531	5	C9orf171	9	135374872	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	3979660	135374872	5838559	35	1786											
ANO5	203859	broad.mit.edu	37	11	22291884	22291884	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:22291884G>A	uc001mqi.2	+	17	2242	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	ANO5_uc001mqj.2_Missense_Mutation_p.R641Q	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	642						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGACGCCGAAAAGCTCGG	0.413													A	22291884	G	A	22291884	3	1	28	1	0	0	0	0	1	0	0	0	700	1058	37	2	1995	2	ANO5	11	22291884	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		22291884	112714632	36	1787											
GDPD4	220032	broad.mit.edu	37	11	76956338	76956338	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:76956338G>A	uc001oyf.3	-	10	1325	c.1074C>T	c.(1072-1074)atC>atT	p.I358I		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	358	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GATGTTGCTCGATTTTAGAGG	0.438													A	76956338	G	A	76956338	2	1	28	1	0	0	0	0	0	0	0	1	6326	1048	37	2		2	GDPD4	11	76956338	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	54664454	76956338	58050178	37	1788											
GRM5	2915	broad.mit.edu	37	11	88338071	88338071	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:88338071G>A	uc001pcq.3	-	3	1409	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A	GRM5_uc009yvm.3_Silent_p.A403A	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	403					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCGAATAGATGGCGTTGATCA	0.458													A	88338071	G	A	88338071	2	1	28	1	0	0	0	0	0	0	0	1	6800	1335	47	3		3	GRM5	11	88338071	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	11381733	88338071	46668445	38	1789											
NAALAD2	10003	broad.mit.edu	37	11	89902152	89902152	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:89902152C>G	uc001pdf.4	+	11	1443	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C	NAALAD2_uc009yvx.3_Missense_Mutation_p.S412C|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	445	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCGGATTCATCTATAGAAGGT	0.294													G	89902152	C	G	89902152	3	3	28	1	0	0	0	0	1	0	0	0	10128	913	32	5	1380	5	NAALAD2	11	89902152	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	1564081	89902152	45104364	39	1790											
APOF	319	broad.mit.edu	37	12	56755752	56755752	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:56755752C>G	uc001sle.1	-	1	292	c.238G>C	c.(238-240)Gcc>Ccc	p.A80P		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	80					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GGTAGAGGGGCCATGTGGCTG	0.547													G	56755752	C	G	56755752	3	3	28	1	0	0	0	0	1	0	0	0	803	739	26	5	746	5	APOF	12	56755752	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		56755752	77096143	40	1791											
MDM1	56890	broad.mit.edu	37	12	68716856	68716856	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:68716856C>T	uc001stz.2	-	4	934	c.798G>A	c.(796-798)agG>agA	p.R266R	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Silent_p.R221R	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	266						nucleus		p.R266G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGAATACCTTCCTTTCAGGAG	0.328													T	68716856	C	T	68716856	2	4	28	1	0	0	0	0	0	0	0	1	9412	854	30	3		3	MDM1	12	68716856	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	11961104	68716856	65135039	41	1792											
RALGAPA1	253959	broad.mit.edu	37	14	36211763	36211763	+	Silent	SNP	T	T	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr14:36211763T>C	uc001wtj.3	-	10	1651	c.1260A>G	c.(1258-1260)ttA>ttG	p.L420L	RALGAPA1_uc001wti.3_Silent_p.L420L|RALGAPA1_uc010tpv.2_Silent_p.L420L|RALGAPA1_uc010tpw.1_Silent_p.L420L|RALGAPA1_uc001wtk.1_Silent_p.L271L	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	420					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAATTGGTAATAAAAATGCCT	0.353													C	36211763	T	C	36211763	2	2	28	1	0	0	0	0	0	0	0	1	13013	1403	49	4		4	RALGAPA1	14	36211763	Silent	SNP	T	TCGA-06-0158-01A-01D-1491-08		36211763	71137777	42	1793											
RFX7	64864	broad.mit.edu	37	15	56435018	56435018	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr15:56435018G>A	uc010bfn.3	-	3	359	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	23					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAAGTCTCCGGATGTTCCTC	0.388													A	56435018	G	A	56435018	3	1	28	1	0	0	0	0	1	0	0	0	13268	1116	39	2	4047	2	RFX7	15	56435018	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		56435018	46096374	43	1794											
WDR90	197335	broad.mit.edu	37	16	703568	703568	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr16:703568C>T	uc002cii.1	+	11	1331	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	WDR90_uc002cig.1_Missense_Mutation_p.S426L|WDR90_uc002cih.1_Missense_Mutation_p.S427L|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	426										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTATTGGCCTCGGCCCAGGCA	0.657													T	703568	C	T	703568	3	4	28	1	0	0	0	0	1	0	0	0	17334	893	31	2	1323	2	WDR90	16	703568	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		703568	89651185	44	1795											
SLC25A11	8402	broad.mit.edu	37	17	4842250	4842250	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:4842250C>T	uc002fzo.2	-	2	526	c.269G>A	c.(268-270)cGt>cAt	p.R90H	SLC25A11_uc002fzp.2_Missense_Mutation_p.R86H|SLC25A11_uc021tod.1_Missense_Mutation_p.R79H|SLC25A11_uc021toe.1_Missense_Mutation_p.R39H|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	90					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GGTGGCCTGACGCAGCAGGCC	0.612													T	4842250	C	T	4842250	3	4	28	1	0	0	0	0	1	0	0	0	14473	536	19	1	699	1	SLC25A11	17	4842250	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		4842250	76352960	45	1796											
TMEM102	284114	broad.mit.edu	37	17	7340213	7340213	+	Silent	SNP	T	T	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:7340213T>A	uc002ggx.1	+	2	1188	c.915T>A	c.(913-915)gcT>gcA	p.A305A	SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Silent_p.A305A|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.3_5'Flank|FGF11_uc002ggz.3_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	Homo sapiens transmembrane protein 102 (TMEM102), mRNA.	305					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TCCTCCTGGCTACCCCTGAGC	0.721													A	7340213	T	A	7340213	2	1	28	1	0	0	0	0	0	0	0	1	16014	1509	53	5		5	TMEM102	17	7340213	Silent	SNP	T	TCGA-06-0158-01A-01D-1491-08	2497963	7340213	73854997	46	1797											
KRBA2	124751	broad.mit.edu	37	17	8274702	8274702	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:8274702T>G	uc002glf.1	-	0	157	c.151A>C	c.(151-153)Aat>Cat	p.N51H	KRBA2_uc002glg.1_Intron	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	51	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	p.N51K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCTAAATAATTCCAATCTTTG	0.453													G	8274702	T	G	8274702	3	3	28	1	0	0	0	0	1	0	0	0	8440	1783	62	5	1335	5	KRBA2	17	8274702	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08	934489	8274702	72920508	47	1798											
UNC45B	146862	broad.mit.edu	37	17	33497185	33497185	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:33497185G>A	uc002hja.3	+	11	1697	c.1600G>A	c.(1600-1602)Ggc>Agc	p.G534S	UNC45B_uc002hjb.3_Missense_Mutation_p.G534S|UNC45B_uc002hjc.3_Missense_Mutation_p.G534S|UNC45B_uc010cto.3_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	534					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGCAGTGGAGGGCCTGGCCTA	0.627													A	33497185	G	A	33497185	3	1	28	1	0	0	0	0	1	0	0	0	16986	1232	43	3	1642	3	UNC45B	17	33497185	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	25222483	33497185	47698025	48	1799											
TMC6	11322	broad.mit.edu	37	17	76120076	76120076	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:76120076A>C	uc002juj.1	-	7	1202	c.1076T>G	c.(1075-1077)gTg>gGg	p.V359G	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.V192G|TMC6_uc002juk.2_Missense_Mutation_p.V359G|TMC6_uc010dhg.1_Missense_Mutation_p.V359G|TMC6_uc002jul.1_Missense_Mutation_p.V359G|TMC6_uc002jum.4_Missense_Mutation_p.V150G|TMC6_uc002jun.4_Missense_Mutation_p.V359G|TMC6_uc002juo.2_Missense_Mutation_p.V132G	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	359						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTACCTGTACACCAGGGTGAT	0.552													C	76120076	A	C	76120076	3	2	28	1	0	0	0	0	1	0	0	0	15986	159	6	5	1389	5	TMC6	17	76120076	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08	42622891	76120076	5075134	49	1800											
CANT1	124583	broad.mit.edu	37	17	76989644	76989644	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:76989644G>C	uc002jwj.3	-	3	1689	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	CANT1_uc002jwn.3_Missense_Mutation_p.I398M|CANT1_uc002jwk.3_Missense_Mutation_p.I398M|CANT1_uc002jwl.2_Intron	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	398					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AAATGAACTCGATGCCTTCGT	0.478			T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	76989644	G	C	76989644	3	2	28	1	0	0	0	0	1	0	0	0	2617	1048	37	5	15	5	CANT1	17	76989644	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	869568	76989644	4205566	50	1801											
RPTOR	57521	broad.mit.edu	37	17	78797000	78797000	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:78797000G>A	uc002jyt.1	+	8	1918	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	RPTOR_uc002jys.3_Silent_p.P371P|RPTOR_uc010wuf.1_Silent_p.P186P|RPTOR_uc010wug.1_Silent_p.P371P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	371					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGCGTCTGCCGCCCACGTACA	0.562													A	78797000	G	A	78797000	2	1	28	1	0	0	0	0	0	0	0	1	13665	1074	38	1		1	RPTOR	17	78797000	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	1807356	78797000	2398210	51	1802											
TMX3	54495	broad.mit.edu	37	18	66377374	66377374	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr18:66377374G>A	uc002lkf.3	-	3	284	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.A50V|TMX3_uc002lkg.4_Missense_Mutation_p.A50V	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	50	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACCATGGCGCATAAAACTT	0.323													A	66377374	G	A	66377374	3	1	28	1	0	0	0	0	1	0	0	0	16265	1087	38	1	1267	1	TMX3	18	66377374	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		66377374	11699874	52	1803											
RTTN	25914	broad.mit.edu	37	18	67718690	67718690	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr18:67718690C>T	uc002lkp.2	-	38	5348	c.5280G>A	c.(5278-5280)ccG>ccA	p.P1760P	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.P848P|RTTN_uc010dqp.2_Silent_p.P12P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1760							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CGGTAACAAACGGGAGTGTGA	0.428													T	67718690	C	T	67718690	2	4	28	1	0	0	0	0	0	0	0	1	13737	523	19	1		1	RTTN	18	67718690	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	1341316	67718690	10358558	53	1804											
ODF3L2	284451	broad.mit.edu	37	19	463966	463966	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:463966C>T	uc002lor.3	-	3	984	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	SHC2_uc002loq.4_5'Flank|ODF3L2_uc010drp.3_Missense_Mutation_p.V214M	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.	250										large_intestine(1)|lung(2)	3						GCTTTGTTCACGGTGACCTGC	0.731													T	463966	C	T	463966	3	4	28	1	0	0	0	0	1	0	0	0	10832	536	19	1	125	1	ODF3L2	19	463966	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		463966	58665017	54	1805											
PIAS4	51588	broad.mit.edu	37	19	4012940	4012940	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:4012940G>A	uc002lzg.3	+	1	57	c.47G>A	c.(46-48)cGa>cAa	p.R16Q		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	16	SAP.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	p.R16L(2)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGTTTTCGAGTCTCCGAC	0.597													A	4012940	G	A	4012940	3	1	28	1	0	0	0	0	1	0	0	0	11878	1058	37	2	53	2	PIAS4	19	4012940	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	3548974	4012940	55116043	55	1806											
ICAM4	3386	broad.mit.edu	37	19	10398368	10398368	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:10398368C>G	uc002mnr.2	+	1	520	c.474C>G	c.(472-474)caC>caG	p.H158Q	ICAM4_uc002mns.2_Missense_Mutation_p.T184S|ICAM4_uc002mnt.2_Missense_Mutation_p.T184S|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCGCTTCACCGGCCTGGAT	0.627													G	10398368	C	G	10398368	3	3	28	1	0	0	0	0	1	0	0	0	7482	507	18	5	557	5	ICAM4	19	10398368	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	6385428	10398368	48730615	56	1807											
RGL3	57139	broad.mit.edu	37	19	11526629	11526629	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:11526629C>T	uc002mro.2	-	4	685	c.621G>A	c.(619-621)ccG>ccA	p.P207P	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mrp.2_Silent_p.P207P	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	207					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ACACCTGAGGCGGCTCCTCTT	0.567													T	11526629	C	T	11526629	2	4	28	1	0	0	0	0	0	0	0	1	13278	755	27	1		1	RGL3	19	11526629	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	1128261	11526629	47602354	57	1808											
ZNF91	7644	broad.mit.edu	37	19	23545038	23545038	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:23545038T>C	uc002nre.3	-	3	856	c.743A>G	c.(742-744)aAg>aGg	p.K248R	ZNF91_uc010xrj.2_Missense_Mutation_p.K216R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAGAGCTGCTTAAAAGCTTT	0.363													C	23545038	T	C	23545038	3	2	28	1	0	0	0	0	1	0	0	0	18197	1609	56	4	2836	4	ZNF91	19	23545038	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08	12018409	23545038	35583945	58	1809											
HIPK4	147746	broad.mit.edu	37	19	40886782	40886782	+	Silent	SNP	C	C	T	rs148513270	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:40886782C>T	uc002onp.3	-	2	1401	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	372						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCACTTGCAGCGAGAGGCGGT	0.667													T	40886782	C	T	40886782	2	4	28	1	0	0	0	0	0	0	0	1	7119	755	27	1		1	HIPK4	19	40886782	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	17341744	40886782	18242201	59	1810											
NLRP11	204801	broad.mit.edu	37	19	56320789	56320789	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:56320789C>T	uc010ygf.2	-	4	1898	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	NLRP11_uc002qlz.3_Missense_Mutation_p.R297H|NLRP11_uc002qmb.3_Missense_Mutation_p.R297H|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	396	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAACACAGACGTTTTAGGAG	0.493													T	56320789	C	T	56320789	3	4	28	1	0	0	0	0	1	0	0	0	10473	536	19	1	1946	1	NLRP11	19	56320789	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	15434007	56320789	2808194	60	1811											
SEMG2	6406	broad.mit.edu	37	20	43836290	43836290	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr20:43836290A>G	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.K118E|SEMG2_uc002xnj.2_Missense_Mutation_p.K118E	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGACCATGATAAATCAAAAGG	0.408													G	43836290	A	G	43836290	3	3	28	1	0	0	0	0	1	0	0	0	14045	363	13	4		4	SEMG2	20	43836290	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08		43836290	19189230	61	1812											
MC3R	4159	broad.mit.edu	37	20	54824329	54824329	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr20:54824329G>A	uc002xxb.2	+	0	542	c.430G>A	c.(430-432)Gtc>Atc	p.V144I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	181					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			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGACAGGTACGTCACCATCTT	0.582													A	54824329	G	A	54824329	3	1	28	1	0	0	0	0	1	0	0	0	9365	1145	40	1	432	1	MC3R	20	54824329	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	10988039	54824329	8201191	62	1813											
ITGB2	3689	broad.mit.edu	37	21	46320234	46320234	+	Splice_Site	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr21:46320234C>T	uc002zgd.2	-	6	941	c.897_splice	c.e6+1	p.F299_splice	ITGB2_uc002zgf.3_Splice_Site_p.F299_splice|ITGB2_uc011afl.1_Splice_Site_p.F221_splice|ITGB2_uc010gpw.2_Splice_Site_p.F242_splice|ITGB2_uc002zgg.2_Splice_Site_p.F299_splice	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	299	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.?(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGGGGACTTACGAATTCGTTG	0.632													T	46320234	C	T	46320234	5	4	28	1	0	0	0	0	0	0	1	0	7894	550	19	1	1451	1	ITGB2	21	46320234	Splice_Site	SNP	C	TCGA-06-0158-01A-01D-1491-08		46320234	1809661	63	1814											
SGSM1	129049	broad.mit.edu	37	22	25315903	25315903	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:25315903C>T	uc003abg.2	+	24	3458	c.3301C>T	c.(3301-3303)Cgt>Tgt	p.R1101C	SGSM1_uc010guu.1_Missense_Mutation_p.R1046C|SGSM1_uc003abh.2_Missense_Mutation_p.R1040C|SGSM1_uc003abj.2_Missense_Mutation_p.R985C|SGSM1_uc003abi.1_Missense_Mutation_p.R1021C	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1101						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGAAGTCTACCGTGACATCAT	0.507													T	25315903	C	T	25315903	3	4	28	1	0	0	0	0	1	0	0	0	14222	652	23	2	3399	2	SGSM1	22	25315903	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		25315903	25988663	64	1815											
THOC5	8563	broad.mit.edu	37	22	29913061	29913061	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:29913061C>T	uc003afr.3	-	17	1973	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	THOC5_uc003afq.3_Silent_p.G207G|THOC5_uc003afs.3_Silent_p.G546G|THOC5_uc003aft.3_Silent_p.G546G|THOC5_uc003afu.3_Silent_p.G546G	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	546					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATTGGTGTCCCCAGCCAGTC	0.527													T	29913061	C	T	29913061	2	4	28	1	0	0	0	0	0	0	0	1	15865	610	22	3		3	THOC5	22	29913061	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	4597158	29913061	21391505	65	1816											
FAM46D	169966	broad.mit.edu	37	X	79699116	79699116	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chrX:79699116A>T	uc022bzm.1	+	0	1078	c.1078A>T	c.(1078-1080)Agg>Tgg	p.R360W	FAM46D_uc004edl.1_Missense_Mutation_p.R360W|FAM46D_uc004edm.2_Missense_Mutation_p.R360W	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	360										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCTGAGGCAAGGTACCCTAT	0.428													T	79699116	A	T	79699116	3	4	28	1	0	0	0	0	1	0	0	0	5568	63	3	5	1080	5	FAM46D	23	79699116	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08		79699116	75571444	66	1817											
SPRY3	10251	broad.mit.edu	37	X	155004303	155004303	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chrX:155004303G>A	uc022cio.1	+	0	770	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	SPRY3_uc004fnq.1_Missense_Mutation_p.R257Q	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	257	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCCTCCGGCGACCAGGCTGC	0.582													A	155004303	G	A	155004303	3	1	28	1	0	0	0	0	1	0	0	0	15106	1058	37	2	772	2	SPRY3	23	155004303	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	75305187	155004303	266257	67	1818											
DVL3	1857	broad.mit.edu	37	3	183884692	183884692	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr3:183884692G>A	uc003fms.3	+	10	1267	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	DVL3_uc011bqw.2_Missense_Mutation_p.G359D|DVL3_uc003fmt.3_Missense_Mutation_p.G47D|DVL3_uc003fmu.3_Missense_Mutation_p.G208D	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	376					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTGCATACGGCATGAGCCCC	0.647													A	183884692	G	A	183884692	3	1	29	1	0	0	0	0	1	0	0	0	4837	1203	42	3	1169	3	DVL3	3	183884692	Missense_Mutation	SNP	G	TCGA-06-0165-01A-01D-1491-08		183884692	14137738	1	1819											
FAT4	79633	broad.mit.edu	37	4	126372195	126372195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr4:126372195C>T	uc003ifj.4	+	8	10024	c.10024C>T	c.(10024-10026)Cga>Tga	p.R3342*	FAT4_uc011cgp.2_Nonsense_Mutation_p.R1640*|FAT4_uc003ifi.1_Nonsense_Mutation_p.R820*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3342	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R3342Q(1)		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						TGGTAATAGTCGAAAGAAGGG	0.408													T	126372195	C	T	126372195	4	4	29	1	0	0	0	0	0	1	0	0	5692	876	31	2	10058	2	FAT4	4	126372195	Nonsense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		126372195	64782081	2	1820											
CCDC110	256309	broad.mit.edu	37	4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr4:186380647C>T	uc003ixu.4	-	5	1170	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_uc003ixv.4_Missense_Mutation_p.G328D|CCDC110_uc011ckt.1_Missense_Mutation_p.G365D	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	365						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323													T	186380647	C	T	186380647	3	4	29	1	0	0	0	0	1	0	0	0	2747	739	26	3	1415	3	CCDC110	4	186380647	Missense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08	60008452	186380647	4773629	3	1821											
POM121C	100101267	broad.mit.edu	37	7	75051383	75051383	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr7:75051383C>T	uc003udk.4	-	12	3037	c.2152G>A	c.(2152-2154)Gcc>Acc	p.A718T		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	960	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCTGGCTTGGCGGCCCCCGGT	0.662													T	75051383	C	T	75051383	3	4	29	1	0	0	0	0	1	0	0	0	12240	768	27	1	823	1	POM121C	7	75051383	Missense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		75051383	84087280	4	1822											
PAX5	5079	broad.mit.edu	37	9	37020696	37020696	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr9:37020696C>A	uc003zzo.1	-	1	597	c.149G>T	c.(148-150)aGg>aTg	p.R50M	PAX5_uc011lqc.1_Missense_Mutation_p.R50M|PAX5_uc010mlr.1_Missense_Mutation_p.R50M|PAX5_uc011lpw.1_Missense_Mutation_p.R50M|PAX5_uc011lpx.1_Missense_Mutation_p.R50M|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R50M|PAX5_uc011lpz.1_Missense_Mutation_p.R50M|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.R50M|PAX5_uc010mlp.1_Missense_Mutation_p.R50M|PAX5_uc011lqd.1_Missense_Mutation_p.R49M|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	50	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	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)		GTCGCAGGGCCTGACACCTTG	0.542			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								A	37020696	C	A	37020696	3	1	29	1	0	0	0	0	1	0	0	0	11482	681	24	5	1062	5	PAX5	9	37020696	Missense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		37020696	104192735	5	1823											
CEP152	22995	broad.mit.edu	37	15	49054838	49054838	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr15:49054838T>C	uc001zwz.3	-	17	2505	c.2312A>G	c.(2311-2313)aAg>aGg	p.K771R	CEP152_uc001zwy.3_Missense_Mutation_p.K771R|CEP152_uc001zxa.2_Missense_Mutation_p.K678R	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	771					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGCCACTCCTTTTCAAGCTG	0.338													C	49054838	T	C	49054838	3	2	29	1	0	0	0	0	1	0	0	0	3248	1609	56	4	2688	4	CEP152	15	49054838	Missense_Mutation	SNP	T	TCGA-06-0165-01A-01D-1491-08		49054838	53476554	6	1824											
ABCC1	4363	broad.mit.edu	37	16	16101808	16101808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr16:16101808C>T	uc010bvi.3	+	1	359	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ABCC1_uc010bvj.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvk.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvl.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvm.3_Nonsense_Mutation_p.R62*|ABCC1_uc002del.4_5'Flank	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	62					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCGACATGACCGAGGCTACAT	0.537													T	16101808	C	T	16101808	4	4	29	1	0	0	0	0	0	1	0	0	49	644	23	2	190	2	ABCC1	16	16101808	Nonsense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		16101808	74252945	7	1825											
B4GALT6	9331	broad.mit.edu	37	18	29225320	29225320	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr18:29225320T>C	uc002kwz.4	-	3	766	c.469A>G	c.(469-471)Aag>Gag	p.K157E	B4GALT6_uc010dma.3_Missense_Mutation_p.K118E|B4GALT6_uc010dmb.3_Missense_Mutation_p.K157E	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA.	157					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	p.K157E(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TACCTCACCTTCCATCTGGGT	0.378													C	29225320	T	C	29225320	3	2	29	1	0	0	0	0	1	0	0	0	1275	1792	62	4	703	4	B4GALT6	18	29225320	Missense_Mutation	SNP	T	TCGA-06-0165-01A-01D-1491-08		29225320	48851928	8	1826											
TNFRSF25	8718	broad.mit.edu	37	1	6522120	6522120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:6522120C>A	uc001anh.3	-	8	974	c.886G>T	c.(886-888)Gag>Tag	p.E296*	TNFRSF25_uc001ana.3_Nonsense_Mutation_p.E104*|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Nonsense_Mutation_p.E60*|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Nonsense_Mutation_p.E287*|TNFRSF25_uc001anf.3_Nonsense_Mutation_p.E250*|TNFRSF25_uc001ang.3_Nonsense_Mutation_p.E242*	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	287					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTGGGTCTCGGGGTAGCCA	0.627													A	6522120	C	A	6522120	4	1	30	1	0	0	0	0	0	1	0	0	16293	893	31	5	402	5	TNFRSF25	1	6522120	Nonsense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		6522120	242728501	1	1827											
LPHN2	23266	broad.mit.edu	37	1	82456163	82456163	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:82456163G>C	uc001dit.4	+	20	3727	c.3546G>C	c.(3544-3546)aaG>aaC	p.K1182N	LPHN2_uc001dis.3_Missense_Mutation_p.K162N|LPHN2_uc001diu.3_Missense_Mutation_p.K1182N|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.K809N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1238					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGCTGCACAAGGGTGACTATA	0.413													C	82456163	G	C	82456163	3	2	30	1	0	0	0	0	1	0	0	0	8916	991	35	5	3620	5	LPHN2	1	82456163	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	75934043	82456163	166794458	2	1828											
DCAF8	5824	broad.mit.edu	37	1	160254853	160254853	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:160254853A>G	uc001fvs.2	-	0	89	c.62T>C	c.(61-63)cTt>cCt	p.L21P	DCAF8_uc010pjc.1_5'UTR|DCAF8_uc021pbq.1_Missense_Mutation_p.L21P|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_5'UTR	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN	Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ACTTTCCAGAAGCTCCTCCAA	0.597													G	160254853	A	G	160254853	3	3	30	1	0	0	0	0	1	0	0	0	4276	72	3	4		4	DCAF8	1	160254853	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08	77798690	160254853	88995768	3	1829											
ARID4B	51742	broad.mit.edu	37	1	235345301	235345301	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:235345301C>T	uc021pks.1	-	19	3310	c.2933G>A	c.(2932-2934)tGt>tAt	p.C978Y	ARID4B_uc001hwq.3_Missense_Mutation_p.C978Y|ARID4B_uc001hwr.3_Missense_Mutation_p.C892Y|ARID4B_uc001hws.4_Missense_Mutation_p.C892Y|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.C659Y	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	978					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTGGGTGAACAACTCTCCTC	0.493													T	235345301	C	T	235345301	3	4	30	1	0	0	0	0	1	0	0	0	920	478	17	3	1025	3	ARID4B	1	235345301	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	75090448	235345301	13905320	4	1830											
OR6F1	343169	broad.mit.edu	37	1	247875180	247875180	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:247875180C>T	uc001idj.1	-	0	878	c.878G>A	c.(877-879)cGt>cAt	p.R293H		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293L(2)|p.R293H(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			TTCCTTATTACGAAGCGTATA	0.438													T	247875180	C	T	247875180	3	4	30	1	0	0	0	0	1	0	0	0	11201	536	19	1	52	1	OR6F1	1	247875180	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	12529879	247875180	1375441	5	1831											
DYNC2LI1	51626	broad.mit.edu	37	2	44023908	44023908	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr2:44023908G>A	uc002rtl.3	+	7	731	c.631G>A	c.(631-633)Gca>Aca	p.A211T	DYNC2LI1_uc002rtk.3_Missense_Mutation_p.A210T|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.A84T|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.A84T	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	210						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCGATTTGTTGCACATTATTA	0.343													A	44023908	G	A	44023908	3	1	30	1	0	0	0	0	1	0	0	0	4847	1319	46	3	757	3	DYNC2LI1	2	44023908	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		44023908	199175465	6	1832											
ZRANB3	84083	broad.mit.edu	37	2	135960424	135960424	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr2:135960424A>G	uc002tum.3	-	19	3236	c.3119T>C	c.(3118-3120)cTc>cCc	p.L1040P	ZRANB3_uc002tuk.3_Missense_Mutation_p.L583P|ZRANB3_uc002tul.3_Missense_Mutation_p.L1038P	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	1040						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GACTGTGCAGAGAGTCTGCAG	0.478													G	135960424	A	G	135960424	3	3	30	1	0	0	0	0	1	0	0	0	18221	304	11	4	128	4	ZRANB3	2	135960424	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08	91936516	135960424	107238949	7	1833											
NUP210	23225	broad.mit.edu	37	3	13379344	13379344	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:13379344C>T	uc003bxv.1	-	25	3628	c.3545G>A	c.(3544-3546)gGc>gAc	p.G1182D		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1182					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACCTGGGTGCCCGTCCTCAT	0.627													T	13379344	C	T	13379344	3	4	30	1	0	0	0	0	1	0	0	0	10760	739	26	3	2178	3	NUP210	3	13379344	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		13379344	184643086	8	1834											
XCR1	2829	broad.mit.edu	37	3	46063343	46063343	+	Missense_Mutation	SNP	C	C	T	rs140218706		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:46063343C>T	uc003cpe.3	-	2	321	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.A33T|XCR1_uc021wwx.1_Missense_Mutation_p.A33T	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	33					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGTGGTGGCGAGGGTAGCA	0.567													T	46063343	C	T	46063343	3	4	30	1	0	0	0	0	1	0	0	0	17422	768	27	1	908	1	XCR1	3	46063343	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	32683999	46063343	151959087	9	1835											
CP	1356	broad.mit.edu	37	3	148895735	148895735	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:148895735T>G	uc003ewy.4	-	16	3163	c.2910A>C	c.(2908-2910)caA>caC	p.Q970H	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_Missense_Mutation_p.Q122H|CP_uc003ewx.4_Missense_Mutation_p.Q751H|CP_uc003ewz.3_Missense_Mutation_p.Q970H	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	970	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGTGAGGCCTTGTAGGTTTC	0.378													G	148895735	T	G	148895735	3	3	30	1	0	0	0	0	1	0	0	0	3787	1606	56	5	299	5	CP	3	148895735	Missense_Mutation	SNP	T	TCGA-06-0166-01A-01D-1491-08	102832392	148895735	49126695	10	1836											
MECOM	2122	broad.mit.edu	37	3	169099085	169099085	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:169099085C>A	uc011bpj.1	-	1	668	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	MECOM_uc003ffl.2_Missense_Mutation_p.G61W|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G89W|MECOM_uc011bpl.1_Missense_Mutation_p.G89W	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	89							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTCCTGCCCCAGGCATATTT	0.473													A	169099085	C	A	169099085	3	1	30	1	0	0	0	0	1	0	0	0	9422	594	21	5	3528	5	MECOM	3	169099085	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	20203350	169099085	28923345	11	1837											
PIK3CA	5290	broad.mit.edu	37	3	178916641	178916661	+	In_Frame_Del	DEL	CTGTGGGGCATCCACTTGATG	CTGTGGGGCATCCACTTGATG	-			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:178916641_178916661delCTGTGGGGCATCCACTTGATG	uc003fjk.3	+	1	185_205	c.28_48delCTGTGGGGCATCCACTTGATG	c.(28-48)ctgtggggcatccacttgatgdel	p.LWGIHLM10del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	10					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G12D(4)|p.W11L(3)|p.I13_R19del(2)|p.E9_R19del(2)|p.L15_V22>PM(2)|p.L10_M16del(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCAGGTGAACTGTGGGGCATCCACTTGATGCCCCCAAGAA	0.394		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178916661	CTGTGGGGCATCCACTTGATG	-	178916641	7	5	30	1	0	1	0	1	0	0	0	0	11913	564	20	0	30	0	PIK3CA	3	178916641	In_Frame_Del	DEL	CTGTGGGGCATCCACTTGATG	TCGA-06-0166-01A-01D-1491-08	9817556	178916641	19105789	12	1838											
LIMCH1	22998	broad.mit.edu	37	4	41652554	41652554	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr4:41652554G>A	uc003gvz.4	+	17	3382	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K	LIMCH1_uc003gwe.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvu.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvv.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvw.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvx.4_Missense_Mutation_p.E592K|LIMCH1_uc003gvy.4_Missense_Mutation_p.E433K|LIMCH1_uc003gwa.4_Missense_Mutation_p.E445K|LIMCH1_uc011byu.2_Missense_Mutation_p.E438K|LIMCH1_uc003gwc.4_Missense_Mutation_p.E450K|LIMCH1_uc003gwd.4_Missense_Mutation_p.E438K|LIMCH1_uc011byv.2_Missense_Mutation_p.E355K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	604					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTCTCCACTGGAGCTGAAACA	0.527													A	41652554	G	A	41652554	3	1	30	1	0	0	0	0	1	0	0	0	8797	1175	41	3	1888	3	LIMCH1	4	41652554	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		41652554	149501722	13	1839											
NPY2R	4887	broad.mit.edu	37	4	156135822	156135822	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr4:156135822G>C	uc003ioq.3	+	1	1220	c.731G>C	c.(730-732)aGt>aCt	p.S244T	NPY2R_uc003ior.3_Missense_Mutation_p.S244T|NPY2R_uc021xtm.1_Missense_Mutation_p.S244T	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	244					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CGCATTTGGAGTAAATTGAAG	0.433													C	156135822	G	C	156135822	3	2	30	1	0	0	0	0	1	0	0	0	10609	1029	36	5	733	5	NPY2R	4	156135822	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	114483268	156135822	35018454	14	1840											
FTMT	94033	broad.mit.edu	37	5	121187974	121187974	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr5:121187974G>A	uc003kss.3	+	0	325	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	106	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCGGGATGACGTGGCCTTGAA	0.592													A	121187974	G	A	121187974	3	1	30	1	0	0	0	0	1	0	0	0	6085	1145	40	1	318	1	FTMT	5	121187974	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		121187974	59727286	15	1841											
FCHSD1	89848	broad.mit.edu	37	5	141029038	141029038	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr5:141029038C>T	uc003llk.3	-	4	350	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	100									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGGAGTCGGGTTTGGCC	0.637													T	141029038	C	T	141029038	3	4	30	1	0	0	0	0	1	0	0	0	5789	884	31	2	1837	2	FCHSD1	5	141029038	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	19841064	141029038	39886222	16	1842											
PCLO	27445	broad.mit.edu	37	7	82595090	82595090	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:82595090T>A	uc003uhx.2	-	3	4303	c.4014A>T	c.(4012-4014)aaA>aaT	p.K1338N	PCLO_uc003uhv.2_Missense_Mutation_p.K1338N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1270					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						AACTTACTGTTTTTTCTTTCC	0.338													A	82595090	T	A	82595090	3	1	30	1	0	0	0	0	1	0	0	0	11583	1838	64	5	11519	5	PCLO	7	82595090	Missense_Mutation	SNP	T	TCGA-06-0166-01A-01D-1491-08		82595090	76543573	17	1843											
DYNC1I1	1780	broad.mit.edu	37	7	95457400	95457400	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:95457400C>T	uc003uoc.4	+	4	674	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	DYNC1I1_uc003uod.4_Missense_Mutation_p.L116F|DYNC1I1_uc003uob.3_Intron|DYNC1I1_uc003uoe.4_Intron|DYNC1I1_uc010lfl.3_Missense_Mutation_p.L122F	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	133					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCCTCAGTGCTCCAGCTGCA	0.443													T	95457400	C	T	95457400	3	4	30	1	0	0	0	0	1	0	0	0	4842	797	28	3	411	3	DYNC1I1	7	95457400	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	12862310	95457400	63681263	18	1844											
AP3M2	10947	broad.mit.edu	37	8	42024775	42024776	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:42024775_42024776insGT	uc003xop.3	+	7	1188_1189	c.897_898insGT	c.(895-900)cagacgfs	p.Q299fs	AP3M2_uc003xoo.3_Frame_Shift_Ins_p.Q299fs|AP3M2_uc010lxe.3_Intron	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	299	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GACCCAAGCAGACGATGGGGAA	0.515													GT	42024776	-	GT	42024775	7	5	30	1	0	1	1	0	0	0	0	0	748	933	33	0	919	0	AP3M2	8	42024775	Frame_Shift_Ins	INS	-	TCGA-06-0166-01A-01D-1491-08		42024775	104339247	19	1845											
ST18	9705	broad.mit.edu	37	8	53073986	53073986	+	Missense_Mutation	SNP	G	G	A	rs2303460	byFrequency	TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:53073986G>A	uc003xqz.2	-	8	1699	c.1543C>T	c.(1543-1545)Cgc>Tgc	p.R515C	ST18_uc011ldq.1_Missense_Mutation_p.R162C|ST18_uc011ldr.1_Missense_Mutation_p.R480C|ST18_uc011lds.1_Missense_Mutation_p.R420C|ST18_uc003xra.2_Missense_Mutation_p.R515C|ST18_uc003xrb.2_Missense_Mutation_p.R515C	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	515			R -> C (in dbSNP:rs2303460).			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGAGAGGGCGTTTACCGAAA	0.433													A	53073986	G	A	53073986	3	1	30	1	0	0	0	0	1	0	0	0	15211	1145	40	1	1652	1	ST18	8	53073986	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	11049211	53073986	93290036	20	1846											
DCAF13	25879	broad.mit.edu	37	8	104427337	104427338	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:104427337_104427338insG	uc003yln.3	+	0	396_397	c.119_120insG	c.(118-120)gagfs	p.E40fs	SLC25A32_uc003yll.3_5'UTR|SLC25A32_uc011lhr.2_5'UTR|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCTAGTACTGAGGGGGCAAGAA	0.663													G	104427338	-	G	104427337	7	5	30	1	0	1	1	0	0	0	0	0	4266	304	11	0	121	0	DCAF13	8	104427337	Frame_Shift_Ins	INS	-	TCGA-06-0166-01A-01D-1491-08	51353351	104427337	41936685	21	1847											
ASAP1	50807	broad.mit.edu	37	8	131124496	131124496	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:131124496C>G	uc003yta.2	-	23	2473	c.2245G>C	c.(2245-2247)Gac>Cac	p.D749H	ASAP1_uc003ysz.2_Missense_Mutation_p.D560H|ASAP1_uc011liw.2_Missense_Mutation_p.D742H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	749					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCCAGCTTGTCCTGGGGGGAG	0.542													G	131124496	C	G	131124496	3	3	30	1	0	0	0	0	1	0	0	0	1010	855	30	5	1172	5	ASAP1	8	131124496	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	26697159	131124496	15239526	22	1848											
FAM75C1	441452	broad.mit.edu	37	9	90537612	90537612	+	Silent	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:90537612C>T	uc010mqi.3	+	3	2819	c.2790C>T	c.(2788-2790)gcC>gcT	p.A930A	FAM75C1_uc004apq.4_Silent_p.A913A|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		TCATGTCAGCCAGAAGGAGTA	0.547													T	90537612	C	T	90537612	2	4	30	1	0	0	0	0	0	0	0	1	5623	581	21	3		3	FAM75C1	9	90537612	Silent	SNP	C	TCGA-06-0166-01A-01D-1491-08		90537612	50675819	23	1849											
ZNF618	114991	broad.mit.edu	37	9	116750662	116750662	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:116750662G>A	uc004bid.3	+	2	238	c.139G>A	c.(139-141)Gag>Aag	p.E47K	ZNF618_uc004bib.1_Missense_Mutation_p.E47K|ZNF618_uc004bic.3_Missense_Mutation_p.E47K|ZNF618_uc011lxi.2_Missense_Mutation_p.E47K|ZNF618_uc011lxj.2_Missense_Mutation_p.E47K	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGTGCCAGCCGAGGCCTCGCT	0.602													A	116750662	G	A	116750662	3	1	30	1	0	0	0	0	1	0	0	0	18039	1059	37	2	149	2	ZNF618	9	116750662	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	26213050	116750662	24462769	24	1850											
OR5C1	392391	broad.mit.edu	37	9	125551633	125551633	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:125551633C>T	uc011lzd.2	+	0	422	c.422C>T	c.(421-423)tCg>tTg	p.S141L		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACAGCTATGTCGCAGCGTCTA	0.572													T	125551633	C	T	125551633	3	4	30	1	0	0	0	0	1	0	0	0	11153	893	31	2	424	2	OR5C1	9	125551633	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	8800971	125551633	15661798	25	1851											
C10orf71	118461	broad.mit.edu	37	10	50531485	50531485	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:50531485G>A	uc021pqb.1	+	0	895	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	C10orf71_uc021pqa.1_Missense_Mutation_p.E298K|C10orf71_uc021pqc.1_Missense_Mutation_p.E299K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	299										endometrium(1)	1						AACCGTCCCAGAAAGCAAAGC	0.542													A	50531485	G	A	50531485	3	1	30	1	0	0	0	0	1	0	0	0	1614	943	33	3	897	3	C10orf71	10	50531485	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		50531485	85003262	26	1852											
PTEN	5728	broad.mit.edu	37	10	89711882	89711882	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:89711882C>G	uc001kfb.3	+	5	1532	c.500C>G	c.(499-501)aCt>aGt	p.T167S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	167	Phosphatase tensin-type.		T -> P (in breast cancer; severely reduced protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.V166fs*17(6)|p.T167A(5)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.T167I(2)|p.V166fs*10(2)|p.Y27fs*1(2)|p.T167S(2)|p.Y27_N212>Y(2)|p.G165_*404del(1)|p.K163_V166>NKGE(1)|p.V166I(1)|p.V166L(1)|p.G165_K342del(1)|p.T167P(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGGGAGTAACTATTCCCAGT	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89711882	C	G	89711882	3	3	30	1	0	0	0	0	1	0	0	0	12738	565	20	5	522	5	PTEN	10	89711882	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	39180397	89711882	45822865	27	1853											
KNDC1	85442	broad.mit.edu	37	10	135012314	135012314	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:135012314A>C	uc001llz.1	+	13	2303	c.2302A>C	c.(2302-2304)Aac>Cac	p.N768H	KNDC1_uc001lma.1_Missense_Mutation_p.N703H|KNDC1_uc001lmb.1_Missense_Mutation_p.N180H	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	768	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCCCAGCAAACCAGCCAGA	0.731													C	135012314	A	C	135012314	3	2	30	1	0	0	0	0	1	0	0	0	8426	14	1	5	2356	5	KNDC1	10	135012314	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08	45300432	135012314	522433	28	1854											
MYOD1	4654	broad.mit.edu	37	11	17741852	17741852	+	Missense_Mutation	SNP	G	G	T	rs143600911		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr11:17741852G>T	uc001mni.3	+	0	743	c.523G>T	c.(523-525)Gca>Tca	p.A175S		NM_002478	NP_002469	P15172	MYOD1_HUMAN	Homo sapiens myogenic differentiation 1 (MYOD1), mRNA.	175					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCCTGGCGCCGCAGCCGCCTT	0.741													T	17741852	G	T	17741852	3	4	30	1	0	0	0	0	1	0	0	0	10088	1087	38	5	525	5	MYOD1	11	17741852	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		17741852	117264664	29	1855											
TMEM132D	121256	broad.mit.edu	37	12	129558863	129558863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr12:129558863C>A	uc009zyl.1	-	8	3185	c.2857G>T	c.(2857-2859)Gag>Tag	p.E953*	TMEM132D_uc001uia.2_Nonsense_Mutation_p.E491*	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	953						integral to membrane		p.E953*(2)|p.F952L(1)		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)		TCCTGCTCCTCGAAGGGAACC	0.458													A	129558863	C	A	129558863	4	1	30	1	0	0	0	0	0	1	0	0	16044	893	31	5	446	5	TMEM132D	12	129558863	Nonsense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		129558863	4293032	30	1856											
NALCN	259232	broad.mit.edu	37	13	101795440	101795440	+	Silent	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr13:101795440G>A	uc001vox.1	-	16	2298	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	NALCN_uc001voy.3_Silent_p.I418I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	703						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I703I(4)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTTTGGTCGATGTATTTGT	0.468													A	101795440	G	A	101795440	2	1	30	1	0	0	0	0	0	0	0	1	10148	1048	37	2		2	NALCN	13	101795440	Silent	SNP	G	TCGA-06-0166-01A-01D-1491-08		101795440	13374438	31	1857											
CDKL1	8814	broad.mit.edu	37	14	50862534	50862534	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr14:50862534A>G	uc010anu.2	-	4	623	c.623T>C	c.(622-624)gTt>gCt	p.V208A	CDKL1_uc001wxz.3_Missense_Mutation_p.V19A	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	18	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACATTTGAAAACAACTCCATA	0.398													G	50862534	A	G	50862534	3	3	30	1	0	0	0	0	1	0	0	0	3153	43	2	4	1056	4	CDKL1	14	50862534	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08		50862534	56487006	32	1858											
KCNH5	27133	broad.mit.edu	37	14	63447847	63447847	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr14:63447847C>T	uc001xfx.3	-	5	736	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	KCNH5_uc001xfy.3_Missense_Mutation_p.A229T|KCNH5_uc001xfz.1_Missense_Mutation_p.A171T|KCNH5_uc001xga.3_Missense_Mutation_p.A171T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	229					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.A229T(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCATAATGGCGGTGTAGAAG	0.383													T	63447847	C	T	63447847	3	4	30	1	0	0	0	0	1	0	0	0	8035	768	27	1	2339	1	KCNH5	14	63447847	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	12585313	63447847	43901693	33	1859											
HERC2	8924	broad.mit.edu	37	15	28460793	28460793	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:28460793A>G	uc001zbj.3	-	38	6290	c.6184T>C	c.(6184-6186)Ttc>Ctc	p.F2062L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2062					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGGCAGTGAAGGGTGCGTGC	0.607													G	28460793	A	G	28460793	3	3	30	1	0	0	0	0	1	0	0	0	7058	72	3	4	8540	4	HERC2	15	28460793	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08		28460793	74070599	34	1860											
FRMD5	84978	broad.mit.edu	37	15	44181021	44181021	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:44181021C>T	uc001ztl.3	-	8	955	c.778G>A	c.(778-780)Gta>Ata	p.V260I	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Splice_Site_p.Y170_splice|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_Missense_Mutation_p.V26I	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	260	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTCTGACTTACGTATAAATAG	0.498													T	44181021	C	T	44181021	3	4	30	1	0	0	0	0	1	0	0	0	6053	536	19	1	958	1	FRMD5	15	44181021	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	15720228	44181021	58350371	35	1861											
SLTM	79811	broad.mit.edu	37	15	59186379	59186379	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:59186379G>A	uc002afp.3	-	10	1479	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	SLTM_uc002afn.3_Missense_Mutation_p.P33L|SLTM_uc002afo.3_Missense_Mutation_p.P446L|SLTM_uc002afq.3_Missense_Mutation_p.P33L|SLTM_uc010bgd.3_Missense_Mutation_p.P33L	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	464					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTTAGAGGGATCACCTTT	0.318													A	59186379	G	A	59186379	3	1	30	1	0	0	0	0	1	0	0	0	14754	1232	43	3	1757	3	SLTM	15	59186379	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	15005358	59186379	43345013	36	1862											
GCNT3	9245	broad.mit.edu	37	15	59911701	59911701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:59911701C>T	uc002age.3	+	2	1713	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	GCNT3_uc002agd.3_Nonsense_Mutation_p.Q422*|GCNT3_uc021smz.1_Nonsense_Mutation_p.Q422*	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	422					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAATGCTCTTCAGTGCTTAGA	0.458													T	59911701	C	T	59911701	4	4	30	1	0	0	0	0	0	1	0	0	6302	827	29	3	1266	3	GCNT3	15	59911701	Nonsense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	725322	59911701	42619691	37	1863											
RASGRF1	5923	broad.mit.edu	37	15	79320175	79320175	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:79320175G>A	uc002beq.3	-	8	1664	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	RASGRF1_uc002bep.3_Missense_Mutation_p.T430M|RASGRF1_uc010blm.1_Missense_Mutation_p.T352M|RASGRF1_uc002ber.4_Missense_Mutation_p.T430M	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	430					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATGTTCTCCGTCTCACTTAC	0.547													A	79320175	G	A	79320175	3	1	30	1	0	0	0	0	1	0	0	0	13072	1145	40	1	2612	1	RASGRF1	15	79320175	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	19408474	79320175	23211217	38	1864											
RPL3L	6123	broad.mit.edu	37	16	2002950	2002950	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:2002950C>T	uc002cnh.3	-	2	337	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGGAGACCTCGAGGGGTGGC	0.607													T	2002950	C	T	2002950	3	4	30	1	0	0	0	0	1	0	0	0	13594	884	31	2	965	2	RPL3L	16	2002950	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		2002950	88351803	39	1865											
ATF7IP2	80063	broad.mit.edu	37	16	10524503	10524503	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:10524503G>A	uc002czw.3	+	1	185	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R9Q|ATF7IP2_uc002czv.3_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AGAAGTAAACGGAAGATATTA	0.348													A	10524503	G	A	10524503	3	1	30	1	0	0	0	0	1	0	0	0	1088	1116	39	2	28	2	ATF7IP2	16	10524503	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	8521553	10524503	79830250	40	1866											
ABCC1	4363	broad.mit.edu	37	16	16218658	16218658	+	Silent	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:16218658G>A	uc010bvi.3	+	24	3778	c.3603G>A	c.(3601-3603)gtG>gtA	p.V1201V	ABCC1_uc010bvj.3_Silent_p.V1142V|ABCC1_uc010bvk.3_Silent_p.V1145V|ABCC1_uc010bvl.3_Silent_p.V1201V|ABCC1_uc010bvm.3_Silent_p.V1086V|ABCC1_uc002del.4_Silent_p.V1095V|ABCC1_uc021tds.1_Intron|ABCC1_uc021tdt.1_Intron	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1201	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCTGGCCGTGCGGCTGGAGT	0.592													A	16218658	G	A	16218658	2	1	30	1	0	0	0	0	0	0	0	1	49	1306	46	3		3	ABCC1	16	16218658	Silent	SNP	G	TCGA-06-0166-01A-01D-1491-08	5694155	16218658	74136095	41	1867											
CLEC3A	10143	broad.mit.edu	37	16	78064579	78064579	+	Silent	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:78064579C>T	uc002ffh.4	+	2	516	c.435C>T	c.(433-435)aaC>aaT	p.N145N	CLEC3A_uc021tlr.1_Silent_p.N93N	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	145	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TTGACGTCAACGGAATCGCTA	0.527													T	78064579	C	T	78064579	2	4	30	1	0	0	0	0	0	0	0	1	3510	535	19	1		1	CLEC3A	16	78064579	Silent	SNP	C	TCGA-06-0166-01A-01D-1491-08	61845921	78064579	12290174	42	1868											
MYH1	4619	broad.mit.edu	37	17	10415407	10415407	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:10415407C>A	uc002gmo.3	-	12	1344	c.1250G>T	c.(1249-1251)gGt>gTt	p.G417V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	417	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACAGTTTGACCTTTGGTGAC	0.463													A	10415407	C	A	10415407	3	1	30	1	0	0	0	0	1	0	0	0	10029	507	18	5	4681	5	MYH1	17	10415407	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		10415407	70779803	43	1869											
MYO19	80179	broad.mit.edu	37	17	34864958	34864958	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:34864958C>T	uc010wcy.2	-	14	2166	c.1174G>A	c.(1174-1176)Gta>Ata	p.V392I	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.V392I|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	392	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	p.V392V(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCACTGATACCAGCCAGTCA	0.537													T	34864958	C	T	34864958	3	4	30	1	0	0	0	0	1	0	0	0	10067	507	18	3	1790	3	MYO19	17	34864958	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	24449551	34864958	46330252	44	1870											
MPP3	4356	broad.mit.edu	37	17	41898381	41898381	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:41898381C>T	uc002ieh.3	-	8	1066	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	MPP3_uc002iei.4_Missense_Mutation_p.A244T|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Missense_Mutation_p.A244T|MPP3_uc010wik.2_Missense_Mutation_p.A269T	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	244	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAAGGGATGGCCCGGTCCTCC	0.677													T	41898381	C	T	41898381	3	4	30	1	0	0	0	0	1	0	0	0	9735	739	26	3	1067	3	MPP3	17	41898381	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	7033423	41898381	39296829	45	1871											
SPIRE1	56907	broad.mit.edu	37	18	12496095	12496095	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr18:12496095C>A	uc002kre.3	-	6	1026	c.979G>T	c.(979-981)Ggt>Tgt	p.G327C	SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Missense_Mutation_p.G207C|SPIRE1_uc010wzx.2_Missense_Mutation_p.G130C|SPIRE1_uc010wzy.2_Missense_Mutation_p.G327C	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	327						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGAATATCACCATTCACCTAA	0.358													A	12496095	C	A	12496095	3	1	30	1	0	0	0	0	1	0	0	0	15070	594	21	5	1335	5	SPIRE1	18	12496095	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		12496095	65581153	46	1872											
ILF3	3609	broad.mit.edu	37	19	10798360	10798360	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:10798360G>A	uc002mpn.3	+	17	2715	c.2398G>A	c.(2398-2400)Gac>Aac	p.D800N	ILF3_uc002mpo.3_Missense_Mutation_p.D804N|ILF3_uc002mpq.3_Silent_p.P102P	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	800	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGCGGATCCGACTACAACTA	0.617													A	10798360	G	A	10798360	3	1	30	1	0	0	0	0	1	0	0	0	7712	1058	37	2	2548	2	ILF3	19	10798360	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		10798360	48330623	47	1873											
LDLR	3949	broad.mit.edu	37	19	11233883	11233883	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:11233883C>A	uc002mqk.4	+	14	2361	c.2174C>A	c.(2173-2175)tCc>tAc	p.S725Y	LDLR_uc010xlk.2_Missense_Mutation_p.S725Y|LDLR_uc010xll.2_Missense_Mutation_p.S684Y|LDLR_uc021upc.1_Missense_Mutation_p.S604Y|LDLR_uc010xln.2_Missense_Mutation_p.S547Y|LDLR_uc010xlo.2_Missense_Mutation_p.S557Y|LDLR_uc010xlm.2_Missense_Mutation_p.S578Y|LDLR_uc021upd.1_Missense_Mutation_p.S462Y	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	725	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAGGAGACATCCACCGTCAGG	0.607													A	11233883	C	A	11233883	3	1	30	1	0	0	0	0	1	0	0	0	8704	855	30	5	2232	5	LDLR	19	11233883	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	435523	11233883	47895100	48	1874											
FBL	2091	broad.mit.edu	37	19	40328442	40328442	+	Silent	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:40328442G>A	uc002omn.3	-	5	705	c.591C>T	c.(589-591)ggC>ggT	p.G197G	FBL_uc002omm.1_Silent_p.G111G|FBL_uc002omo.2_Silent_p.G196G	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	197					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TGAGGTCACGGCCAGAGCGGT	0.473													A	40328442	G	A	40328442	2	1	30	1	0	0	0	0	0	0	0	1	5696	1190	42	3		3	FBL	19	40328442	Silent	SNP	G	TCGA-06-0166-01A-01D-1491-08	29094559	40328442	18800541	49	1875											
ZNF180	7733	broad.mit.edu	37	19	44981674	44981674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:44981674G>A	uc002ozf.4	-	4	1306	c.1024C>T	c.(1024-1026)Caa>Taa	p.Q342*	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Nonsense_Mutation_p.Q315*|ZNF180_uc002ozg.4_Nonsense_Mutation_p.Q341*|ZNF180_uc010ejm.3_Nonsense_Mutation_p.Q317*	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTCATGTTTTGAGTAAGGGAG	0.378													A	44981674	G	A	44981674	4	1	30	1	0	0	0	0	0	1	0	0	17745	1299	45	3	1058	3	ZNF180	19	44981674	Nonsense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	4653232	44981674	14147309	50	1876											
FPR3	2359	broad.mit.edu	37	19	52327921	52327921	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:52327921G>A	uc002pxt.1	+	1	1104	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FPR3_uc021uyq.1_Missense_Mutation_p.R307H	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	307					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTTATGGGTCGTAACTTCCAA	0.473													A	52327921	G	A	52327921	3	1	30	1	0	0	0	0	1	0	0	0	6040	1145	40	1	922	1	FPR3	19	52327921	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	7346247	52327921	6801062	51	1877											
MMP24	10893	broad.mit.edu	37	20	33851598	33851598	+	Silent	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr20:33851598C>T	uc002xbu.2	+	4	825	c.822C>T	c.(820-822)aaC>aaT	p.N274N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	274					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCACAGGGAACGACCTCTTCC	0.627													T	33851598	C	T	33851598	2	4	30	1	0	0	0	0	0	0	0	1	9661	535	19	1		1	MMP24	20	33851598	Silent	SNP	C	TCGA-06-0166-01A-01D-1491-08		33851598	29173922	52	1878											
BCOR	54880	broad.mit.edu	37	X	39932171	39932171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:39932171G>A	uc004den.4	-	3	2720	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	BCOR_uc004dep.4_Nonsense_Mutation_p.R810*|BCOR_uc004deo.4_Nonsense_Mutation_p.R810*|BCOR_uc004dem.4_Nonsense_Mutation_p.R810*|BCOR_uc004deq.4_Nonsense_Mutation_p.R810*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	810					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTTCTTCTCGGAGAAGGTCT	0.522			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39932171	G	A	39932171	4	1	30	1	0	0	0	0	0	1	0	0	1386	1124	39	2	2887	2	BCOR	23	39932171	Nonsense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		39932171	115338389	53	1879											
OTUD5	55593	broad.mit.edu	37	X	48814319	48814319	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:48814319C>T	uc004dlu.3	-	0	575	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	OTUD5_uc004dlt.4_Missense_Mutation_p.G172S|OTUD5_uc004dlv.3_Missense_Mutation_p.G172S|OTUD5_uc011mmp.2_Intron	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	172	Gly-rich.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TAGCCTGCGCCGACCTCCTCA	0.687													T	48814319	C	T	48814319	3	4	30	1	0	0	0	0	1	0	0	0	11315	652	23	2	1237	2	OTUD5	23	48814319	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	8882148	48814319	106456241	54	1880											
MED12	9968	broad.mit.edu	37	X	70349202	70349202	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:70349202G>A	uc004dyy.3	+	25	3813	c.3614G>A	c.(3613-3615)cGc>cAc	p.R1205H	MED12_uc011mpq.1_Missense_Mutation_p.R1205H|MED12_uc004dyz.3_Missense_Mutation_p.R1205H|MED12_uc004dza.3_Missense_Mutation_p.R1052H|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1205					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCCTGCGACCGCCACCTGCTG	0.582			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70349202	G	A	70349202	3	1	30	1	0	0	0	0	1	0	0	0	9428	1087	38	1	3716	1	MED12	23	70349202	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	21534883	70349202	84921358	55	1881											
NPNT	255743	broad.mit.edu	37	4	106888371	106888371	+	Missense_Mutation	SNP	G	G	A	rs146652028		TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr4:106888371G>A	uc011cfd.2	+	11	1675	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	NPNT_uc011cfc.2_Missense_Mutation_p.A475T|NPNT_uc011cfe.2_Missense_Mutation_p.A459T|NPNT_uc003hya.3_Missense_Mutation_p.A458T|NPNT_uc011cff.2_Missense_Mutation_p.A429T	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	458	MAM.				cell differentiation	membrane	calcium ion binding	p.A458T(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGTGTCGGCAGCCAAAGCCCC	0.552													A	106888371	G	A	106888371	3	1	31	1	0	0	0	0	1	0	0	0	10590	971	34	3	1563	3	NPNT	4	106888371	Missense_Mutation	SNP	G	TCGA-06-0167-01A-01D-1491-08		106888371	84265905	1	1882											
SEC24B	10427	broad.mit.edu	37	4	110437770	110437770	+	Silent	SNP	C	C	T			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr4:110437770C>T	uc003hzk.3	+	10	2155	c.2100C>T	c.(2098-2100)tgC>tgT	p.C700C	SEC24B_uc003hzl.3_Silent_p.C665C|SEC24B_uc011cfp.2_Silent_p.C730C|SEC24B_uc011cfq.2_Silent_p.C699C|SEC24B_uc011cfr.2_Silent_p.C664C	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	700					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAATTTTGTGCCAGTCACTCC	0.318													T	110437770	C	T	110437770	2	4	31	1	0	0	0	0	0	0	0	1	13995	747	26	3		3	SEC24B	4	110437770	Silent	SNP	C	TCGA-06-0167-01A-01D-1491-08	3549399	110437770	80716506	2	1883											
C6orf203	51250	broad.mit.edu	37	6	107372330	107372330	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr6:107372330C>T	uc011eaj.2	+	4	1303	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	C6orf203_uc003prq.3_Missense_Mutation_p.R205W|C6orf203_uc010kde.3_Missense_Mutation_p.R205W	NM_001142470	NP_057571	Q9P0P8	CF203_HUMAN	Homo sapiens chromosome 6 open reading frame 203 (C6orf203), transcript variant 3, mRNA.	205										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GACAGTTATGCGGATTCTCTT	0.383													T	107372330	C	T	107372330	3	4	31	1	0	0	0	0	1	0	0	0	2352	759	27	1	642	1	C6orf203	6	107372330	Missense_Mutation	SNP	C	TCGA-06-0167-01A-01D-1491-08		107372330	63742737	3	1884											
RTF1	23168	broad.mit.edu	37	15	41763442	41763442	+	Silent	SNP	G	G	A			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr15:41763442G>A	uc001zny.3	+	7	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	366	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458													A	41763442	G	A	41763442	2	1	31	1	0	0	0	0	0	0	0	1	13721	1190	42	3		3	RTF1	15	41763442	Silent	SNP	G	TCGA-06-0167-01A-01D-1491-08		41763442	60767950	4	1885											
MRPL10	124995	broad.mit.edu	37	17	45905957	45905957	+	Silent	SNP	C	C	T			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr17:45905957C>T	uc002ily.3	-	2	260	c.162G>A	c.(160-162)cgG>cgA	p.R54R	MRPL10_uc002ilz.3_Silent_p.R44R|MRPL10_uc010wky.2_Silent_p.R5R	NM_148887	NP_683685	Q7Z7H8	RM10_HUMAN	Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	44					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TCAGCTTCTGCCGCTGAAAGT	0.597													T	45905957	C	T	45905957	2	4	31	1	0	0	0	0	0	0	0	1	9775	726	26	3		3	MRPL10	17	45905957	Silent	SNP	C	TCGA-06-0167-01A-01D-1491-08		45905957	35289253	5	1886											
MSL3	10943	broad.mit.edu	37	X	11790350	11790350	+	Missense_Mutation	SNP	G	G	A	rs140880282		TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chrX:11790350G>A	uc004cuw.3	+	10	1462	c.1357G>A	c.(1357-1359)Gca>Aca	p.A453T	MSL3_uc011mig.2_Missense_Mutation_p.A304T|MSL3_uc011mih.2_Missense_Mutation_p.A441T|MSL3_uc004cuy.3_Missense_Mutation_p.A287T	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	453					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CATTTATGGGGCACAACATTT	0.463													A	11790350	G	A	11790350	3	1	31	1	0	0	0	0	1	0	0	0	9879	1203	42	3	1479	3	MSL3	23	11790350	Missense_Mutation	SNP	G	TCGA-06-0167-01A-01D-1491-08		11790350	143480210	6	1887											
RBBP4	5928	broad.mit.edu	37	1	33134833	33134833	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:33134833T>G	uc001bvr.3	+	7	921	c.762_splice	c.e7-1	p.I254_splice	RBBP4_uc001bvs.3_Splice_Site_p.I253_splice|RBBP4_uc010ohj.2_Splice_Site_p.I2_splice|RBBP4_uc010ohk.2_Splice_Site_p.I219_splice	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	254					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCACTGAAGTTGGGATACTCG	0.353													G	33134833	T	G	33134833	3	3	32	1	0	0	0	0	1	0	0	0	13101	1826	63	5	789	5	RBBP4	1	33134833	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08		33134833	216115788	1	1888											
CYP4A11	1579	broad.mit.edu	37	1	47399686	47399686	+	Missense_Mutation	SNP	G	G	A	rs66477740		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:47399686G>A	uc001cqp.4	-	8	1205	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	CYP4A11_uc001cqq.2_Missense_Mutation_p.P385L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	385					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCTGGCACCGGTGGGTAGAG	0.567													A	47399686	G	A	47399686	3	1	32	1	0	0	0	0	1	0	0	0	4183	1116	39	2	421	2	CYP4A11	1	47399686	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	14264853	47399686	201850935	2	1889											
LRP8	7804	broad.mit.edu	37	1	53732253	53732253	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:53732253C>T	uc001cvi.2	-	8	1556	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Missense_Mutation_p.R440Q|LRP8_uc001cvk.2_Missense_Mutation_p.R270Q|LRP8_uc001cvl.2_Missense_Mutation_p.R311Q|LRP8_uc001cvm.1_Missense_Mutation_p.R25Q	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	440					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGAATAGTTCCGCTTCACCAG	0.537													T	53732253	C	T	53732253	3	4	32	1	0	0	0	0	1	0	0	0	8963	652	23	2	1616	2	LRP8	1	53732253	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	6332567	53732253	195518368	3	1890											
FLG	2312	broad.mit.edu	37	1	152285273	152285273	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:152285273G>T	uc001ezu.1	-	2	2125	c.2089C>A	c.(2089-2091)Cat>Aat	p.H697N	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	697	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GCCTGTTCATGGGATGACGCA	0.557									Ichthyosis				T	152285273	G	T	152285273	3	4	32	1	0	0	0	0	1	0	0	0	5922	1348	47	5	10100	5	FLG	1	152285273	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	98553020	152285273	96965348	4	1891											
LCE1F	353137	broad.mit.edu	37	1	152748961	152748961	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:152748961T>C	uc010pdv.2	+	0	114	c.114T>C	c.(112-114)ccT>ccC	p.P38P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	38	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctaagtgccctccTGTCTCTT	0.672													C	152748961	T	C	152748961	2	2	32	1	0	0	0	0	0	0	0	1	8664	1538	54	4		4	LCE1F	1	152748961	Silent	SNP	T	TCGA-06-0168-01A-01D-1491-08	463688	152748961	96501660	5	1892											
USH2A	7399	broad.mit.edu	37	1	215814045	215814045	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:215814045G>A	uc001hku.1	-	67	15210	c.14823C>T	c.(14821-14823)gaC>gaT	p.D4941D		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4941	Fibronectin type-III 35.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		ACAAATTGCTGTCCACCGAAA	0.507										HNSCC(13;0.011)			A	215814045	G	A	215814045	2	1	32	1	0	0	0	0	0	0	0	1	17033	1368	48	3		3	USH2A	1	215814045	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08	63065084	215814045	33436576	6	1893											
LYST	1130	broad.mit.edu	37	1	235969724	235969724	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:235969724C>T	uc001hxj.2	-	5	2887	c.2712G>A	c.(2710-2712)gtG>gtA	p.V904V	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.V904V	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	904					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			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)			ATAAAAAAGCCACACAGAGGA	0.428													T	235969724	C	T	235969724	2	4	32	1	0	0	0	0	0	0	0	1	9128	581	21	3		3	LYST	1	235969724	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	20155679	235969724	13280897	7	1894											
MTA3	57504	broad.mit.edu	37	2	42883411	42883411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:42883411C>T	uc002rso.1	+	7	1073	c.403C>T	c.(403-405)Cga>Tga	p.R135*	MTA3_uc002rsp.1_Nonsense_Mutation_p.R135*|MTA3_uc002rsq.3_Nonsense_Mutation_p.R191*	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	191	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V135V(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ACTTACGGATCGACAGATTGA	0.328													T	42883411	C	T	42883411	4	4	32	1	0	0	0	0	0	1	0	0	9910	876	31	2	597	2	MTA3	2	42883411	Nonsense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		42883411	200315962	8	1895											
REV1	51455	broad.mit.edu	37	2	100024503	100024507	+	Frame_Shift_Del	DEL	TGATA	TGATA	-			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:100024503_100024507delTGATA	uc002tad.3	-	14	2644_2648	c.2432_2436delTATCA	c.(2431-2436)atatcafs	p.I811fs	REV1_uc002tac.3_Frame_Shift_Del_p.I810fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	811					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.I811M(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCATATCTGATATATTTAGTTT	0.346								Direct reversal of damage					-	100024507	TGATA	-	100024503	7	5	32	1	0	1	0	1	0	0	0	0	13239	1567	55	0	1355	0	REV1	2	100024503	Frame_Shift_Del	DEL	TGATA	TCGA-06-0168-01A-01D-1491-08	57141092	100024503	143174870	9	1896											
SEPT10	151011	broad.mit.edu	37	2	110303622	110303625	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:110303622_110303625delCTTA	uc002tey.3	-	10	1728	c.1349_splice	c.e10+1	p.K450_splice	SEPT10_uc010ywu.1_Stop_Codon_Del|SEPT10_uc002tew.3_Splice_Site_p.N450_splice|SEPT10_uc002tex.3_Splice_Site_p.N427_splice|SEPT10_uc010ywv.2_Splice_Site_p.N316_splice|SEPT10_uc002tev.1_Stop_Codon_Del|SEPT10_uc010fjo.3_Splice_Site	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCTGGGCCTCTTACTTCTTACGG	0.505											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	110303625	CTTA	-	110303622	8	5	32	1	0	1	0	1	0	0	1	0	14060	928	32	0		0	SEPT10	2	110303622	Splice_Site	DEL	CTTA	TCGA-06-0168-01A-01D-1491-08	10279119	110303622	132895751	10	1897											
POTEF	728378	broad.mit.edu	37	2	130877828	130877828	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:130877828G>T	uc010fmh.2	-	2	661	c.261C>A	c.(259-261)gaC>gaA	p.D87E		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	87						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TAGCAGAGTCGTCGTGGTCTC	0.612													T	130877828	G	T	130877828	3	4	32	1	0	0	0	0	1	0	0	0	12265	1136	40	5	3026	5	POTEF	2	130877828	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	20574206	130877828	112321545	11	1898											
ITGAV	3685	broad.mit.edu	37	2	187506166	187506166	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:187506166G>A	uc002upq.3	+	11	1286	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	ITGAV_uc010frs.3_Missense_Mutation_p.G301D|ITGAV_uc010zfv.2_Missense_Mutation_p.G291D	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	337					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GGCTCTGATGGCAAACTCCAA	0.458													A	187506166	G	A	187506166	3	1	32	1	0	0	0	0	1	0	0	0	7888	1203	42	3	1107	3	ITGAV	2	187506166	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	56628338	187506166	55693207	12	1899											
SGOL2	151246	broad.mit.edu	37	2	201437521	201437521	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:201437521A>G	uc002uvw.2	+	6	2565	c.2452A>G	c.(2452-2454)Ata>Gta	p.I818V	SGOL2_uc010zhd.1_Missense_Mutation_p.I818V|SGOL2_uc010zhe.1_Missense_Mutation_p.I818V	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	818					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAGTCAGAAATAATTCCTGA	0.348													G	201437521	A	G	201437521	3	3	32	1	0	0	0	0	1	0	0	0	14217	101	4	4	2474	4	SGOL2	2	201437521	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08	13931355	201437521	41761852	13	1900											
FGFR3	2261	broad.mit.edu	37	4	1807889	1807889	+	Missense_Mutation	SNP	A	A	G	rs78311289		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:1807889A>G	uc003gdr.3	+	13	2204	c.1948A>G	c.(1948-1950)Aag>Gag	p.K650E	FGFR3_uc003gdu.2_Missense_Mutation_p.K652E|FGFR3_uc003gds.3_Missense_Mutation_p.K538E|FGFR3_uc003gdq.3_Missense_Mutation_p.K651E	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	650	Protein kinase.		K -> E (in KERSEB, TD2 and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation).|K -> M (in KERSEB, ACH and TD1).|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.K650E(121)|p.K650M(81)|p.K650Q(10)|p.K650T(5)|p.K650N(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTACTACAAGAAGACGACCAA	0.667		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				G	1807889	A	G	1807889	3	3	32	1	0	0	0	0	1	0	0	0	5867	247	9	4	2153	4	FGFR3	4	1807889	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08		1807889	189346387	14	1901											
BANK1	55024	broad.mit.edu	37	4	102984233	102984233	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:102984233A>C	uc003hvy.4	+	13	2423	c.2149_splice	c.e13-1	p.E717_splice	BANK1_uc003hvx.4_Splice_Site_p.E702_splice|BANK1_uc010ill.3_Splice_Site_p.E584_splice|BANK1_uc003hvz.4_Splice_Site_p.E687_splice	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	717					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CACATTAAGGAGAAATTACGA	0.333													C	102984233	A	C	102984233	3	2	32	1	0	0	0	0	1	0	0	0	1309	318	11	5	2200	5	BANK1	4	102984233	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08	101176344	102984233	88170043	15	1902											
NDST4	64579	broad.mit.edu	37	4	115792048	115792048	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:115792048G>C	uc003ibu.3	-	6	2274	c.1595C>G	c.(1594-1596)aCc>aGc	p.T532S	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	532	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTTCACAAAGGTATATAACCC	0.403													C	115792048	G	C	115792048	3	2	32	1	0	0	0	0	1	0	0	0	10258	1261	44	5	1055	5	NDST4	4	115792048	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	12807815	115792048	75362228	16	1903											
NDST3	9348	broad.mit.edu	37	4	118975673	118975673	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:118975673G>A	uc003ibx.3	+	1	1011	c.608G>A	c.(607-609)cGt>cAt	p.R203H	NDST3_uc011cgf.1_Missense_Mutation_p.R203H|NDST3_uc003ibw.3_Missense_Mutation_p.R203H	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	203	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358													A	118975673	G	A	118975673	3	1	32	1	0	0	0	0	1	0	0	0	10257	1145	40	1	610	1	NDST3	4	118975673	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	3183625	118975673	72178603	17	1904											
ASB5	140458	broad.mit.edu	37	4	177190191	177190191	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:177190191C>T	uc003iuq.2	-	0	183	c.69G>A	c.(67-69)tcG>tcA	p.S23S		NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	23					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AACAGAACAGCGAAAGTATTG	0.433													T	177190191	C	T	177190191	2	4	32	1	0	0	0	0	0	0	0	1	1026	755	27	1		1	ASB5	4	177190191	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	58214518	177190191	13964085	18	1905											
PCDHAC2	56145	broad.mit.edu	37	5	140182149	140182149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr5:140182149C>T	uc003lhf.2	+	0	1367	c.1367C>T	c.(1366-1368)tCg>tTg	p.S456L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S456L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	470	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S456L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCATTCTCGCAGTCCGAG	0.672													T	140182149	C	T	140182149	3	4	32	1	0	0	0	0	1	0	0	0	11533	893	31	2		2	PCDHAC2	5	140182149	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		140182149	40733111	19	1906											
PCDHB13	56123	broad.mit.edu	37	5	140595338	140595338	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr5:140595338G>A	uc003lja.1	+	0	1830	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	548	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGTGCGCGTGGTGGTG	0.716													A	140595338	G	A	140595338	3	1	32	1	0	0	0	0	1	0	0	0	11538	1087	38	1	1645	1	PCDHB13	5	140595338	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	413189	140595338	40319922	20	1907											
PRPF4B	8899	broad.mit.edu	37	6	4042762	4042762	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:4042762T>C	uc003mvv.3	+	4	1701	c.1610T>C	c.(1609-1611)cTa>cCa	p.L537P	PRPF4B_uc003mvw.3_Non-coding_Transcript|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	537						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAAGAAGCCCTAATAGAACAG	0.313													C	4042762	T	C	4042762	3	2	32	1	0	0	0	0	1	0	0	0	12573	1522	53	4	1628	4	PRPF4B	6	4042762	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08		4042762	167072305	21	1908											
OR2H1	26716	broad.mit.edu	37	6	29430141	29430141	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:29430141G>C	uc003nmi.3	+	2	1038	c.595G>C	c.(595-597)Gtg>Ctg	p.V199L	OR2H1_uc003nmj.1_Missense_Mutation_p.V199L|OR2H1_uc010jri.2_Missense_Mutation_p.V121L|OR2H1_uc021ytr.1_Missense_Mutation_p.V199L	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CCAGTTGGCTGTGTCCAGTGT	0.512													C	29430141	G	C	29430141	3	2	32	1	0	0	0	0	1	0	0	0	11001	1377	48	5	597	5	OR2H1	6	29430141	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	25387379	29430141	141684926	22	1909											
DST	667	broad.mit.edu	37	6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:56566691G>A	uc021zay.1	-	4	562	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DST_uc011dxl.1_Missense_Mutation_p.R135C|DST_uc021zaz.1_Missense_Mutation_p.R106C	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	106	Actin-binding.				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.E146K(1)		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)			CATACCTGGCGTCTTTTCAAA	0.343													A	56566691	G	A	56566691	3	1	32	1	0	0	0	0	1	0	0	0	4783	1160	40	1		1	DST	6	56566691	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	27136550	56566691	114548376	23	1910											
SASH1	23328	broad.mit.edu	37	6	148854037	148854037	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:148854037G>A	uc003qme.1	+	13	2144	c.1669G>A	c.(1669-1671)Ggg>Agg	p.G557R	SASH1_uc011eeb.1_Missense_Mutation_p.G318R|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	557	SH3.						protein binding	p.G557R(2)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCGTTCTGCGGGCGTGCCAG	0.582													A	148854037	G	A	148854037	3	1	32	1	0	0	0	0	1	0	0	0	13848	1116	39	2	1723	2	SASH1	6	148854037	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	92287346	148854037	22261030	24	1911											
GRM3	2913	broad.mit.edu	37	7	86415679	86415679	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:86415679G>A	uc003uid.3	+	2	1670	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	GRM3_uc010lef.3_Missense_Mutation_p.V189M|GRM3_uc010leg.3_Missense_Mutation_p.V63M|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCCAGGACCGTGCCCCCCGA	0.567													A	86415679	G	A	86415679	3	1	32	1	0	0	0	0	1	0	0	0	6798	1145	40	1	577	1	GRM3	7	86415679	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08		86415679	72722984	25	1912											
MUC17	140453	broad.mit.edu	37	7	100678176	100678176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:100678176C>G	uc003uxp.1	+	2	3532	c.3479C>G	c.(3478-3480)aCt>aGt	p.T1160S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1160	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					GAAGGAACCACTCCGTTAGCA	0.522													G	100678176	C	G	100678176	3	3	32	1	0	0	0	0	1	0	0	0	9974	565	20	5	3489	5	MUC17	7	100678176	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	14262497	100678176	58460487	26	1913											
PTPRZ1	5803	broad.mit.edu	37	7	121636615	121636615	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:121636615G>C	uc003vjy.3	+	8	1503	c.1108G>C	c.(1108-1110)Gac>Cac	p.D370H	PTPRZ1_uc011knt.2_Missense_Mutation_p.D370H|PTPRZ1_uc003vjz.3_Missense_Mutation_p.D370H	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	370	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						TGGCTATCAAGACTTGGTAAC	0.338													C	121636615	G	C	121636615	3	2	32	1	0	0	0	0	1	0	0	0	12814	942	33	5	1142	5	PTPRZ1	7	121636615	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	20958439	121636615	37502048	27	1914											
EPHB6	2051	broad.mit.edu	37	7	142562429	142562430	+	Missense_Mutation	DNP	AA	AA	CC			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:142562429_142562430AA>CC	uc011kst.2	+	6	1658_1659	c.871_872AA>CC	c.(871-873)aag>CCg	p.K291P	EPHB6_uc011ksu.2_Missense_Mutation_p.K291P|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	291	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGGGGAGGGCAAGTGGATGGTA	0.653													CC	142562430	AA	CC	142562429	3	2	32	1	0	0	0	0	1	0	0	0	5178	131	5	5	881	5	EPHB6	7	142562429	Missense_Mutation	DNP	AA	TCGA-06-0168-01A-01D-1491-08	20925814	142562429	16576234	28	1915											
SLCO5A1	81796	broad.mit.edu	37	8	70594493	70594493	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr8:70594493A>T	uc003xyl.3	-	6	2415	c.1708T>A	c.(1708-1710)Tgt>Agt	p.C570S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.C515S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.C570S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	570	Kazal-like.					integral to membrane|plasma membrane	transporter activity			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)			TCTGATCCACAGACTGGCTCA	0.428													T	70594493	A	T	70594493	3	4	32	1	0	0	0	0	1	0	0	0	14731	188	7	5	854	5	SLCO5A1	8	70594493	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08		70594493	75769529	29	1916											
C9orf66	157983	broad.mit.edu	37	9	214614	214614	+	Silent	SNP	G	G	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:214614G>T	uc003zge.4	-	0	1280	c.783C>A	c.(781-783)ggC>ggA	p.G261G	DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.	261	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAGCTTCCGGCCTGCGCGCA	0.711													T	214614	G	T	214614	2	4	32	1	0	0	0	0	0	0	0	1	2490	1190	42	5		5	C9orf66	9	214614	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08		214614	140998817	30	1917											
SVEP1	79987	broad.mit.edu	37	9	113169426	113169426	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:113169426G>C	uc010mtz.3	-	37	8791	c.8454C>G	c.(8452-8454)gaC>gaG	p.D2818E	SVEP1_uc010mty.3_Missense_Mutation_p.D744E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2818	Sushi 23.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCAGTTTTTGTCATCCTGGC	0.512													C	113169426	G	C	113169426	3	2	32	1	0	0	0	0	1	0	0	0	15417	1368	48	5	2305	5	SVEP1	9	113169426	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	112954812	113169426	28044005	31	1918											
RTKN2	219790	broad.mit.edu	37	10	63957964	63957964	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr10:63957964T>C	uc001jlw.3	-	11	1630	c.1533A>G	c.(1531-1533)aaA>aaG	p.K511K	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.K165K	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	511					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGAATGGAAGTTTATCAGAAG	0.398													C	63957964	T	C	63957964	2	2	32	1	0	0	0	0	0	0	0	1	13723	1722	60	4		4	RTKN2	10	63957964	Silent	SNP	T	TCGA-06-0168-01A-01D-1491-08		63957964	71576783	32	1919											
PTEN	5728	broad.mit.edu	37	10	89720827	89720831	+	Frame_Shift_Del	DEL	CAAAG	CAAAG	-			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr10:89720827_89720831delCAAAG	uc001kfb.3	+	7	2010_2014	c.978_982delCAAAG	c.(976-984)gacaaagcafs	p.D326fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	326	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.T319_K332del(2)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D326fs*4(2)|p.W274_F341del(2)|p.A328fs*1(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)|p.L325H(1)|p.L325V(1)|p.L325P(1)|p.L325R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGATCTTGACAAAGCAAATAAAGA	0.337		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720831	CAAAG	-	89720827	7	5	32	1	0	1	0	1	0	0	0	0	12738	477	17	0	1008	0	PTEN	10	89720827	Frame_Shift_Del	DEL	CAAAG	TCGA-06-0168-01A-01D-1491-08	25762863	89720827	45813920	33	1920											
OR10A3	26496	broad.mit.edu	37	11	7960190	7960190	+	Missense_Mutation	SNP	C	C	T	rs146552050		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:7960190C>T	uc010rbi.2	-	0	878	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTGTTTCGTAAGCTATA	0.418													T	7960190	C	T	7960190	3	4	32	1	0	0	0	0	1	0	0	0	10891	884	31	2	69	2	OR10A3	11	7960190	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		7960190	127046326	34	1921											
OR8J3	81168	broad.mit.edu	37	11	55904831	55904831	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55904831G>A	uc010riz.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121Y(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)					GCCACATAGCGGTCATAGGCC	0.502													A	55904831	G	A	55904831	3	1	32	1	0	0	0	0	1	0	0	0	11242	1116	39	2	585	2	OR8J3	11	55904831	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	47944641	55904831	79101685	35	1922											
OR5A1	219982	broad.mit.edu	37	11	59210873	59210873	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:59210873T>C	uc001nnx.1	+	0	232	c.232T>C	c.(232-234)Tct>Cct	p.S78P		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTGCTACTCTTCTGCTGTGGC	0.468													C	59210873	T	C	59210873	3	2	32	1	0	0	0	0	1	0	0	0	11139	1783	62	4	234	4	OR5A1	11	59210873	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08	3306042	59210873	75795643	36	1923											
CDC42BPG	55561	broad.mit.edu	37	11	64607007	64607007	+	Silent	SNP	G	G	A	rs141134240	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:64607007G>A	uc001obs.4	-	5	618	c.618C>T	c.(616-618)aaC>aaT	p.N206N		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	206	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GAATGTGCCCGTTCACATCCA	0.607													A	64607007	G	A	64607007	2	1	32	1	0	0	0	0	0	0	0	1	3074	1136	40	1		1	CDC42BPG	11	64607007	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08	5396134	64607007	70399509	37	1924											
UVRAG	7405	broad.mit.edu	37	11	75718654	75718654	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:75718654C>G	uc001oxc.3	+	9	1229	c.988C>G	c.(988-990)Cct>Gct	p.P330A	UVRAG_uc010rrw.2_Missense_Mutation_p.P229A|UVRAG_uc001oxd.3_5'UTR|UVRAG_uc010rrx.2_5'UTR|UVRAG_uc009yuh.1_Non-coding_Transcript	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	330					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTACATTTACCCTATTGATTT	0.318													G	75718654	C	G	75718654	3	3	32	1	0	0	0	0	1	0	0	0	17105	623	22	5	1026	5	UVRAG	11	75718654	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	11111647	75718654	59287862	38	1925											
SMAGP	57228	broad.mit.edu	37	12	51663060	51663060	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr12:51663060C>G	uc001ryd.1	-	1	193	c.3G>C	c.(1-3)atG>atC	p.M1I	SMAGP_uc001rye.1_Missense_Mutation_p.M1I|SMAGP_uc001ryf.1_Non-coding_Transcript	NM_001033873	NP_001029045	Q0VAQ4	SMAGP_HUMAN	Homo sapiens small cell adhesion glycoprotein (SMAGP), transcript variant 2, mRNA.	1						cytoplasmic vesicle membrane|integral to membrane|plasma membrane											GGAGGCTGGTCATTGTCACTA	0.512													G	51663060	C	G	51663060	3	3	32	1	0	0	0	0	1	0	0	0	14765	826	29	5	302	5	SMAGP	12	51663060	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		51663060	82188835	39	1926											
RNF17	56163	broad.mit.edu	37	13	25367336	25367336	+	Silent	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:25367336T>C	uc001upr.3	+	9	1133	c.1092T>C	c.(1090-1092)ccT>ccC	p.P364P	RNF17_uc010tdd.1_Silent_p.P223P|RNF17_uc010tde.2_Silent_p.P364P|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.P303P|RNF17_uc001upq.1_Silent_p.P364P	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	364					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)		CTTTGCAACCTGAGACAAATG	0.428													C	25367336	T	C	25367336	2	2	32	1	0	0	0	0	0	0	0	1	13461	1567	55	4		4	RNF17	13	25367336	Silent	SNP	T	TCGA-06-0168-01A-01D-1491-08		25367336	89802542	40	1927											
TRPC4	7223	broad.mit.edu	37	13	38237609	38237609	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:38237609C>T	uc010abx.3	-	5	1867	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	TRPC4_uc010abv.3_Silent_p.T124T|TRPC4_uc001uwt.3_Silent_p.T544T|TRPC4_uc001uws.3_Silent_p.T544T|TRPC4_uc010tey.2_Silent_p.T544T|TRPC4_uc010abw.3_Silent_p.T371T|TRPC4_uc010aby.3_Silent_p.T544T	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	544					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTAACCCTTTCGTTTCTTCAT	0.348													T	38237609	C	T	38237609	2	4	32	1	0	0	0	0	0	0	0	1	16577	871	31	2		2	TRPC4	13	38237609	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	12870273	38237609	76932269	41	1928											
COL4A1	1282	broad.mit.edu	37	13	110855947	110855947	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:110855947T>C	uc001vqw.4	-	17	1087	c.965A>G	c.(964-966)aAg>aGg	p.K322R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	322	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGCTTCACCCTTTTCTCCCTA	0.453													C	110855947	T	C	110855947	3	2	32	1	0	0	0	0	1	0	0	0	3689	1609	56	4	4184	4	COL4A1	13	110855947	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08	72618338	110855947	4313931	42	1929											
MAP3K9	4293	broad.mit.edu	37	14	71209191	71209191	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr14:71209191G>A	uc001xmm.3	-	5	1444	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	MAP3K9_uc010ttk.2_Missense_Mutation_p.R219W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R176W|MAP3K9_uc001xml.3_Missense_Mutation_p.R482W	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	482	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGAGCTCCCGTTCCAGGATG	0.617													A	71209191	G	A	71209191	3	1	32	1	0	0	0	0	1	0	0	0	9257	1144	40	1	1944	1	MAP3K9	14	71209191	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08		71209191	36140349	43	1930											
EPB42	2038	broad.mit.edu	37	15	43499445	43499445	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr15:43499445C>A	uc001zrb.4	-	8	1660	c.1360G>T	c.(1360-1362)Ggc>Tgc	p.G454C	EPB42_uc001zqz.4_Missense_Mutation_p.G91C|EPB42_uc001zra.4_Missense_Mutation_p.G424C|EPB42_uc010udm.2_Missense_Mutation_p.G346C	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	424					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-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;8.7e-07)		CGGTCACTGCCCACACCCTTG	0.552													A	43499445	C	A	43499445	3	1	32	1	0	0	0	0	1	0	0	0	5158	623	22	5	825	5	EPB42	15	43499445	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		43499445	59031947	44	1931											
SMAD3	4088	broad.mit.edu	37	15	67457245	67457245	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr15:67457245C>T	uc002aqj.3	+	1	517	c.219C>T	c.(217-219)ggC>ggT	p.G73G	SMAD3_uc010ujr.2_5'UTR|SMAD3_uc010ujs.2_Silent_p.G29G|SMAD3_uc010ujt.2_5'Flank	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	73	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCCTGGATGGCCGGTTGCAGG	0.612													T	67457245	C	T	67457245	2	4	32	1	0	0	0	0	0	0	0	1	14759	726	26	3		3	SMAD3	15	67457245	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	23957800	67457245	35074147	45	1932											
CACNA1G	8913	broad.mit.edu	37	17	48697121	48697121	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr17:48697121G>A	uc002irk.1	+	33	6231	c.5859G>A	c.(5857-5859)ctG>ctA	p.L1953L	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Silent_p.L1919L|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Silent_p.L1953L|CACNA1G_uc002irq.1_Silent_p.L1930L|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Silent_p.L1942L|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Silent_p.L1919L|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Silent_p.L1855L|CACNA1G_uc002ise.1_Silent_p.L1821L|CACNA1G_uc002isf.1_Silent_p.L1848L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1953					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGACGAGCTGGCAGGCCCAG	0.667													A	48697121	G	A	48697121	2	1	32	1	0	0	0	0	0	0	0	1	2544	1335	47	3		3	CACNA1G	17	48697121	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08		48697121	32498089	46	1933											
DNMT1	1786	broad.mit.edu	37	19	10254528	10254528	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:10254528G>A	uc002mng.3	-	27	3162	c.2982C>T	c.(2980-2982)ggC>ggT	p.G994G	DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Silent_p.G1010G|DNMT1_uc002mnh.3_Silent_p.G889G|DNMT1_uc010xld.2_Silent_p.G994G	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	994	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTTTGATCCGGCCAATTCGGT	0.542													A	10254528	G	A	10254528	2	1	32	1	0	0	0	0	0	0	0	1	4675	1190	42	3		3	DNMT1	19	10254528	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08		10254528	48874455	47	1934											
CRLF1	9244	broad.mit.edu	37	19	18710416	18710416	+	Missense_Mutation	SNP	C	C	T	rs146027258	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:18710416C>T	uc010ebt.2	-	1	550	c.356G>A	c.(355-357)cGt>cAt	p.R119H		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	119	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	p.R119H(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCTGCCGTCACGGGCGTGGCA	0.652													T	18710416	C	T	18710416	3	4	32	1	0	0	0	0	1	0	0	0	3886	536	19	1	944	1	CRLF1	19	18710416	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	8455888	18710416	40418567	48	1935											
FOSB	2354	broad.mit.edu	37	19	45973902	45973902	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:45973902G>A	uc002pbx.4	+	1	734	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Missense_Mutation_p.G48R|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.G48R|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.G48R|FOSB_uc010eke.3_Intron|FOSB_uc002pby.4_Missense_Mutation_p.G48R|FOSB_uc010ekf.3_Intron|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_5'UTR	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	48					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CGCCGGTCTCGGGGAAATGCC	0.582													A	45973902	G	A	45973902	3	1	32	1	0	0	0	0	1	0	0	0	5986	1116	39	2	148	2	FOSB	19	45973902	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	27263486	45973902	13155081	49	1936											
PNMAL2	57469	broad.mit.edu	37	19	46997949	46997949	+	Silent	SNP	G	G	A			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:46997949G>A	uc002pes.2	-	0	1221	c.774C>T	c.(772-774)acC>acT	p.T258T	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Silent_p.T20T	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	258										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGTCGGTGACGGTGACCAGAG	0.602													A	46997949	G	A	46997949	2	1	32	1	0	0	0	0	0	0	0	1	12158	1103	39	2		2	PNMAL2	19	46997949	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08	1024047	46997949	12131034	50	1937											
DHX34	9704	broad.mit.edu	37	19	47883014	47883014	+	Silent	SNP	C	C	T			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:47883014C>T	uc010xyn.2	+	13	3103	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	DHX34_uc010xyo.1_Silent_p.S47S	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	918						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTGACTGCTCCCGCCTGGTGG	0.627													T	47883014	C	T	47883014	2	4	32	1	0	0	0	0	0	0	0	1	4507	610	22	3		3	DHX34	19	47883014	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	885065	47883014	11245969	51	1938											
PRAMEF12	390999	broad.mit.edu	37	1	12836029	12836029	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:12836029T>C	uc001aui.3	+	1	658	c.631T>C	c.(631-633)Tgc>Cgc	p.C211R		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	211										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGAAGTGTGCTGCCCGTG	0.517													C	12836029	T	C	12836029	3	2	33	1	0	0	0	0	1	0	0	0	12428	1696	59	4	637	4	PRAMEF12	1	12836029	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08		12836029	236414592	1	1939											
SGIP1	84251	broad.mit.edu	37	1	67133216	67133216	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:67133216C>T	uc001dcr.3	+	8	692	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	SGIP1_uc010opd.2_5'UTR|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|AK298300_uc010ope.1_Intron	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	159					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATCACAGAGGCGCAGCCCGGT	0.418													T	67133216	C	T	67133216	3	4	33	1	0	0	0	0	1	0	0	0	14206	768	27	1	509	1	SGIP1	1	67133216	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	54297187	67133216	182117405	2	1940											
GBP1	2633	broad.mit.edu	37	1	89521850	89521850	+	Missense_Mutation	SNP	C	C	T	rs140785577		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:89521850C>T	uc001dmx.2	-	7	1437	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	406					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGCTGAGCAACGATCTGATGA	0.408													T	89521850	C	T	89521850	3	4	33	1	0	0	0	0	1	0	0	0	6273	536	19	1	577	1	GBP1	1	89521850	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	22388634	89521850	159728771	3	1941											
HRNR	388697	broad.mit.edu	37	1	152188002	152188002	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:152188002T>C	uc001ezt.1	-	2	6179	c.6103A>G	c.(6103-6105)Agc>Ggc	p.S2035G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2035					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTGAGCTAGCTCCATGT	0.567													C	152188002	T	C	152188002	3	2	33	1	0	0	0	0	1	0	0	0	7359	1522	53	4	2453	4	HRNR	1	152188002	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	62666152	152188002	97062619	4	1942											
BCAN	63827	broad.mit.edu	37	1	156617796	156617796	+	Silent	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:156617796A>G	uc001fpp.3	+	4	999	c.663A>G	c.(661-663)cgA>cgG	p.R221R	BCAN_uc001fpo.3_Silent_p.R221R	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	221	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGACCCCACGAGAGGCCTGTT	0.532													G	156617796	A	G	156617796	2	3	33	1	0	0	0	0	0	0	0	1	1345	291	11	4		4	BCAN	1	156617796	Silent	SNP	A	TCGA-06-0169-01A-01D-1490-08	4429794	156617796	92632825	5	1943											
PYHIN1	149628	broad.mit.edu	37	1	158914718	158914718	+	Silent	SNP	C	C	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:158914718C>A	uc001ftb.3	+	6	1495	c.1245C>A	c.(1243-1245)ccC>ccA	p.P415P	PYHIN1_uc001ftc.3_Silent_p.P406P|PYHIN1_uc001ftd.3_Silent_p.P415P|PYHIN1_uc001fte.3_Silent_p.P406P	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	415					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGGCACTACCCCAGGAACAGA	0.433													A	158914718	C	A	158914718	2	1	33	1	0	0	0	0	0	0	0	1	12865	610	22	5		5	PYHIN1	1	158914718	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	2296922	158914718	90335903	6	1944											
OR2T6	254879	broad.mit.edu	37	1	248551593	248551593	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:248551593G>T	uc001iei.1	+	0	684	c.684G>T	c.(682-684)atG>atT	p.M228I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M228I(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			TGCATCAGATGACATCGGCTG	0.502													T	248551593	G	T	248551593	3	4	33	1	0	0	0	0	1	0	0	0	11029	1290	45	5	686	5	OR2T6	1	248551593	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	89636875	248551593	699028	7	1945											
ANKRD53	79998	broad.mit.edu	37	2	71209104	71209104	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:71209104C>T	uc002shl.4	+	3	857	c.656C>T	c.(655-657)gCc>gTc	p.A219V	ANKRD53_uc002shk.4_Missense_Mutation_p.A219V	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA.	219										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CACCTGGCAGCCCGTGACGGC	0.577													T	71209104	C	T	71209104	3	4	33	1	0	0	0	0	1	0	0	0	679	739	26	3	670	3	ANKRD53	2	71209104	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		71209104	171990269	8	1946											
DYSF	8291	broad.mit.edu	37	2	71871138	71871138	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:71871138T>C	uc010fen.3	+	41	4712	c.4571T>C	c.(4570-4572)aTa>aCa	p.I1524T	DYSF_uc010fei.3_Missense_Mutation_p.I1502T|DYSF_uc010feh.3_Missense_Mutation_p.I1492T|DYSF_uc002sig.4_Missense_Mutation_p.I1471T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.I1516T|DYSF_uc010fee.3_Missense_Mutation_p.I1506T|DYSF_uc010fef.3_Missense_Mutation_p.I1523T|DYSF_uc002sie.3_Missense_Mutation_p.I1485T|DYSF_uc010feo.3_Missense_Mutation_p.I1517T|DYSF_uc010fej.3_Missense_Mutation_p.I1493T|DYSF_uc010fel.3_Missense_Mutation_p.I1472T|DYSF_uc010fem.3_Missense_Mutation_p.I1507T|DYSF_uc002sif.3_Missense_Mutation_p.I1486T|DYSF_uc010fek.3_Missense_Mutation_p.I1503T|DYSF_uc010yqy.2_Missense_Mutation_p.I366T|DYSF_uc010yqz.2_Missense_Mutation_p.I246T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1485						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTTGCCTCCATAGGGGAGAGG	0.502													C	71871138	T	C	71871138	3	2	33	1	0	0	0	0	1	0	0	0	4859	1406	49	4	4875	4	DYSF	2	71871138	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	662034	71871138	171328235	9	1947											
FAM123C	205147	broad.mit.edu	37	2	131521578	131521578	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:131521578C>T	uc021voy.1	+	0	1933	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	FAM123C_uc002trw.2_Missense_Mutation_p.P645S|FAM123C_uc010fmv.2_Missense_Mutation_p.P645S|FAM123C_uc010fms.1_Missense_Mutation_p.P645S|FAM123C_uc010fmt.1_Missense_Mutation_p.P645S|FAM123C_uc010fmu.1_Missense_Mutation_p.P645S	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	645										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAGAAGGAGCCTGGGCCACC	0.602													T	131521578	C	T	131521578	3	4	33	1	0	0	0	0	1	0	0	0	5424	739	26	3	1935	3	FAM123C	2	131521578	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	59650440	131521578	111677795	10	1948											
SCN9A	6335	broad.mit.edu	37	2	167085307	167085307	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:167085307C>T	uc010fpl.3	-	21	4408	c.4067G>A	c.(4066-4068)cGt>cAt	p.R1356H	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1367						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1356H(2)|p.R1356L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACATTCGGAACGATTTGGAAC	0.398													T	167085307	C	T	167085307	3	4	33	1	0	0	0	0	1	0	0	0	13925	536	19	1	1890	1	SCN9A	2	167085307	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	35563729	167085307	76114066	11	1949											
HDLBP	3069	broad.mit.edu	37	2	242173290	242173290	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:242173290A>G	uc002waz.3	-	23	3406	c.3233T>C	c.(3232-3234)aTc>aCc	p.I1078T	HDLBP_uc002wba.3_Missense_Mutation_p.I1078T|HDLBP_uc021vzg.1_Missense_Mutation_p.I1045T	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	1078	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTCCAACCGGATTTGGGTAAT	0.498													G	242173290	A	G	242173290	3	3	33	1	0	0	0	0	1	0	0	0	7025	333	12	4	593	4	HDLBP	2	242173290	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08	75087983	242173290	1026083	12	1950											
CCK	885	broad.mit.edu	37	3	42305011	42305011	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr3:42305011C>T	uc021wwk.1	-	1	239	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CCK_uc003cld.1_Missense_Mutation_p.E38K|CCK_uc011azk.1_Missense_Mutation_p.E38K	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	38					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.E38K(2)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CGGGGCGCCTCCTCTGCCCGC	0.711													T	42305011	C	T	42305011	3	4	33	1	0	0	0	0	1	0	0	0	2879	864	30	3	243	3	CCK	3	42305011	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		42305011	155717419	13	1951											
MANF	7873	broad.mit.edu	37	3	51425306	51425306	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr3:51425306T>C	uc003dbc.3	+	2	443	c.361T>C	c.(361-363)Tat>Cat	p.Y121H		NM_006010	NP_006001	P55145	MANF_HUMAN	Homo sapiens mesencephalic astrocyte-derived neurotrophic factor (MANF), mRNA.	121					response to unfolded protein	extracellular region	growth factor activity			lung(1)|ovary(1)	2						TGAGCTTAAGTATGGTGAGTA	0.458													C	51425306	T	C	51425306	3	2	33	1	0	0	0	0	1	0	0	0	9223	1638	57	4	380	4	MANF	3	51425306	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	9120295	51425306	146597124	14	1952											
DKK2	27123	broad.mit.edu	37	4	107847047	107847047	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:107847047G>T	uc003hyi.3	-	1	987	c.282C>A	c.(280-282)caC>caA	p.H94Q	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.H94Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	94	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGATCCTTGGTGGGGACTGT	0.502													T	107847047	G	T	107847047	3	4	33	1	0	0	0	0	1	0	0	0	4545	1252	44	5	509	5	DKK2	4	107847047	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		107847047	83307229	15	1953											
DCHS2	54798	broad.mit.edu	37	4	155305544	155305544	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:155305544G>A	uc003inw.2	-	1	210	c.210C>T	c.(208-210)aaC>aaT	p.N70N	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	70	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctggttttgcgttctcttcct	0.507													A	155305544	G	A	155305544	2	1	33	1	0	0	0	0	0	0	0	1	4288	1136	40	1		1	DCHS2	4	155305544	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	47458497	155305544	35848732	16	1954											
ODZ3	55714	broad.mit.edu	37	4	183713527	183713527	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:183713527C>T	uc003ivd.1	+	24	5777	c.5702C>T	c.(5701-5703)aCc>aTc	p.T1901I		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1901					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCTCGCCACACCATGCAGACC	0.547													T	183713527	C	T	183713527	3	4	33	1	0	0	0	0	1	0	0	0	10836	507	18	3	5800	3	ODZ3	4	183713527	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	28407983	183713527	7440749	17	1955											
GPR98	84059	broad.mit.edu	37	5	89969926	89969926	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:89969926G>A	uc003kju.3	+	22	5081	c.4985G>A	c.(4984-4986)cGt>cAt	p.R1662H	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1662	Calx-beta 11.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R1662H(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGTATTTCCGTGTGACATTG	0.393													A	89969926	G	A	89969926	3	1	33	1	0	0	0	0	1	0	0	0	6721	1145	40	1	5075	1	GPR98	5	89969926	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		89969926	90945334	18	1956											
PCDHB9	56127	broad.mit.edu	37	5	140568233	140568233	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:140568233G>A	uc003liw.1	+	1	1339	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	448	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.592													A	140568233	G	A	140568233	3	1	33	1	0	0	0	0	1	0	0	0	11549	1074	38	1	1343	1	PCDHB9	5	140568233	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	50598307	140568233	40347027	19	1957											
FAT2	2196	broad.mit.edu	37	5	150923883	150923883	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:150923883G>T	uc003lue.4	-	8	6818	c.6805C>A	c.(6805-6807)Cct>Act	p.P2269T		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2269	Cadherin 19.				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)			AAAGTGGGAGGGTTATCATTG	0.502													T	150923883	G	T	150923883	3	4	33	1	0	0	0	0	1	0	0	0	5690	1232	43	5	6304	5	FAT2	5	150923883	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	10355650	150923883	29991377	20	1958											
FAM71B	153745	broad.mit.edu	37	5	156592924	156592924	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:156592924C>T	uc003lwn.3	-	0	356	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	86						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACCATGACGTCAGGCAGT	0.542													T	156592924	C	T	156592924	3	4	33	1	0	0	0	0	1	0	0	0	5608	536	19	1	1569	1	FAM71B	5	156592924	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	5669041	156592924	24322336	21	1959											
HLA-C	3106	broad.mit.edu	37	6	31322411	31322411	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:31322411C>T	uc003nth.2	-	6	1099	c.1045_splice	c.e6+1	p.C349_splice	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Splice_Site_p.C228_splice|HLA-C_uc003nti.1_Splice_Site	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	350					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ACCACTTACACGCAGCCTGAG	0.572													T	31322411	C	T	31322411	2	4	33	1	0	0	0	0	0	0	0	1	7197	550	19	1		1	HLA-C	6	31322411	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08		31322411	139792656	22	1960											
TRAM2	9697	broad.mit.edu	37	6	52370483	52370483	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:52370483G>A	uc003paq.3	-	8	938	c.789C>T	c.(787-789)gcC>gcT	p.A263A	EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_Non-coding_Transcript	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA.	263	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TGGCCAGCACGGCAAGGGTGA	0.542													A	52370483	G	A	52370483	2	1	33	1	0	0	0	0	0	0	0	1	16450	1103	39	2		2	TRAM2	6	52370483	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	21048072	52370483	118744584	23	1961											
TCP10	6953	broad.mit.edu	37	6	167790118	167790118	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:167790118G>A	uc003qvv.1	-	4	704	c.492C>T	c.(490-492)ccC>ccT	p.P164P	TCP10_uc003qvu.3_Silent_p.P164P|TCP10_uc003qvw.3_Silent_p.P140P	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	191						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GACGTCTCCCGGGAGGACTTT	0.493													A	167790118	G	A	167790118	2	1	33	1	0	0	0	0	0	0	0	1	15707	1103	39	2		2	TCP10	6	167790118	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	115419635	167790118	3324949	24	1962											
NXPH1	30010	broad.mit.edu	37	7	8791118	8791118	+	Missense_Mutation	SNP	G	G	C	rs145299363	by1000genomes	TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:8791118G>C	uc003srv.3	+	2	1446	c.535G>C	c.(535-537)Gca>Cca	p.A179P	NXPH1_uc011jxh.2_Missense_Mutation_p.A62P	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	179	IV (linker domain).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ATTTGACTTGGCACAACAAAC	0.398													C	8791118	G	C	8791118	3	2	33	1	0	0	0	0	1	0	0	0	10790	1203	42	5	541	5	NXPH1	7	8791118	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		8791118	150347545	25	1963											
THSD7A	221981	broad.mit.edu	37	7	11422186	11422186	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:11422186G>A	uc021zzo.1	-	23	4721	c.4469C>T	c.(4468-4470)aCa>aTa	p.T1490I	THSD7A_uc021zzn.1_Missense_Mutation_p.T1488I|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_5'Flank	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1490						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACCACACTGTTCGGGAAGA	0.418										HNSCC(18;0.044)			A	11422186	G	A	11422186	3	1	33	1	0	0	0	0	1	0	0	0	15876	1377	48	3	524	3	THSD7A	7	11422186	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	2631068	11422186	147716477	26	1964											
DNAH11	8701	broad.mit.edu	37	7	21599234	21599234	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:21599234G>A	uc003svc.3	+	3	737	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	236	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGTCAAACGAAAGGATAAT	0.313									Kartagener syndrome				A	21599234	G	A	21599234	3	1	33	1	0	0	0	0	1	0	0	0	4599	1059	37	2	720	2	DNAH11	7	21599234	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	10177048	21599234	137539429	27	1965											
GRB10	2887	broad.mit.edu	37	7	50742172	50742172	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:50742172C>G	uc003tpi.2	-	2	369	c.323G>C	c.(322-324)aGg>aCg	p.R108T	GRB10_uc003tph.3_Missense_Mutation_p.R50T|GRB10_uc003tpj.2_Missense_Mutation_p.R108T|GRB10_uc003tpk.2_Missense_Mutation_p.R108T|GRB10_uc010kzb.2_Missense_Mutation_p.R50T|GRB10_uc003tpl.2_Missense_Mutation_p.R102T|GRB10_uc003tpm.2_Missense_Mutation_p.R50T	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	108					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCGCTGCACCCTCTGCCTCGG	0.657									Russell-Silver syndrome				G	50742172	C	G	50742172	3	3	33	1	0	0	0	0	1	0	0	0	6756	681	24	5	1517	5	GRB10	7	50742172	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	29142938	50742172	108396491	28	1966											
PCLO	27445	broad.mit.edu	37	7	82763793	82763793	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:82763793T>C	uc003uhx.2	-	2	3362	c.3073A>G	c.(3073-3075)Aaa>Gaa	p.K1025E	PCLO_uc003uhv.2_Missense_Mutation_p.K1025E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	971					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						GGTGGCTTTTTTTCTGTTTCT	0.408													C	82763793	T	C	82763793	3	2	33	1	0	0	0	0	1	0	0	0	11583	1850	64	4	12464	4	PCLO	7	82763793	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	32021621	82763793	76374870	29	1967											
RELN	5649	broad.mit.edu	37	7	103270455	103270455	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:103270455C>T	uc022ajr.1	-	19	2794	c.2634G>A	c.(2632-2634)gaG>gaA	p.E878E	RELN_uc022ajq.1_Silent_p.E878E|RELN_uc010liz.3_Silent_p.E878E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	878					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			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)		ACTGAGTGACCTCCACAAGAT	0.408													T	103270455	C	T	103270455	2	4	33	1	0	0	0	0	0	0	0	1	13220	680	24	3		3	RELN	7	103270455	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	20506662	103270455	55868208	30	1968											
TAS2R39	259285	broad.mit.edu	37	7	142881262	142881262	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:142881262G>A	uc011ksw.2	+	0	751	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	251					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGGGTCCAACGACCCCAGCAT	0.498													A	142881262	G	A	142881262	3	1	33	1	0	0	0	0	1	0	0	0	15573	1058	37	2	753	2	TAS2R39	7	142881262	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	39610807	142881262	16257401	31	1969											
OR2A5	393046	broad.mit.edu	37	7	143748162	143748162	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:143748162C>T	uc011ktw.2	+	0	668	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223V(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CGCATCCTGGCGGCCATCTTG	0.607													T	143748162	C	T	143748162	3	4	33	1	0	0	0	0	1	0	0	0	10981	768	27	1	670	1	OR2A5	7	143748162	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	866900	143748162	15390501	32	1970											
TEX15	56154	broad.mit.edu	37	8	30695500	30695500	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:30695500G>A	uc003xil.3	-	2	7151	c.7151C>T	c.(7150-7152)aCg>aTg	p.T2384M		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2384										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)		CTTTTTTGGCGTTAAATGATT	0.388													A	30695500	G	A	30695500	3	1	33	1	0	0	0	0	1	0	0	0	15776	1145	40	1	1226	1	TEX15	8	30695500	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		30695500	115668522	33	1971											
ADAM18	8749	broad.mit.edu	37	8	39502901	39502901	+	Silent	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:39502901T>C	uc003xni.3	+	10	1009	c.954T>C	c.(952-954)gcT>gcC	p.A318A	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.A294A	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	318	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTATTATAGCTCAACTGCTTG	0.333													C	39502901	T	C	39502901	2	2	33	1	0	0	0	0	0	0	0	1	239	1538	54	4		4	ADAM18	8	39502901	Silent	SNP	T	TCGA-06-0169-01A-01D-1490-08	8807401	39502901	106861121	34	1972											
IL7	3574	broad.mit.edu	37	8	79710323	79710323	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:79710323C>T	uc003ybg.3	-	1	732	c.131G>A	c.(130-132)aGc>aAc	p.S44N	IL7_uc022awh.1_Missense_Mutation_p.S44N|IL7_uc022awi.1_Missense_Mutation_p.S44N|IL7_uc022awj.1_Missense_Mutation_p.S44N|IL7_uc003ybh.3_Intron|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	44					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TTGATCGATGCTGACCATTAG	0.353													T	79710323	C	T	79710323	3	4	33	1	0	0	0	0	1	0	0	0	7704	797	28	3	422	3	IL7	8	79710323	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	40207422	79710323	66653699	35	1973											
GPR20	2843	broad.mit.edu	37	8	142366995	142366995	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:142366995G>A	uc022bby.1	-	0	1029	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	GPR20_uc003ywf.3_Silent_p.A343A	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	343						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGTGAGGGCCGGCACTGAGGA	0.667													A	142366995	G	A	142366995	2	1	33	1	0	0	0	0	0	0	0	1	6680	1103	39	2		2	GPR20	8	142366995	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	62656672	142366995	3997027	36	1974											
C9orf131	138724	broad.mit.edu	37	9	35045456	35045456	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr9:35045456A>G	uc003zvw.3	+	1	2859	c.2830A>G	c.(2830-2832)Aag>Gag	p.K944E	C9orf131_uc003zvu.3_Missense_Mutation_p.K896E|C9orf131_uc003zvv.3_Missense_Mutation_p.K871E|C9orf131_uc003zvx.3_Missense_Mutation_p.K909E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	944										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCAGCCAAAAAGAGAGAGCA	0.532													G	35045456	A	G	35045456	3	3	33	1	0	0	0	0	1	0	0	0	2457	15	1	4	2852	4	C9orf131	9	35045456	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08		35045456	106167975	37	1975											
COL15A1	1306	broad.mit.edu	37	9	101797331	101797331	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr9:101797331G>A	uc004azb.1	+	17	2321	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	705	Triple-helical region 2 (COL2).		P -> L (in dbSNP:rs41308900).		angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGACCCCCGGGGAAAAAGG	0.612													A	101797331	G	A	101797331	2	1	33	1	0	0	0	0	0	0	0	1	3672	1103	39	2		2	COL15A1	9	101797331	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	66751875	101797331	39416100	38	1976											
ANO9	338440	broad.mit.edu	37	11	420522	420522	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:420522T>C	uc001lpi.2	-	18	1812	c.1727A>G	c.(1726-1728)gAc>gGc	p.D576G	ANO9_uc001lph.2_Missense_Mutation_p.D269G|ANO9_uc010qvv.1_Missense_Mutation_p.D432G	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	576						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTTGATGGCGTCCAGGCGGAT	0.687													C	420522	T	C	420522	3	2	33	1	0	0	0	0	1	0	0	0	704	1667	58	4	641	4	ANO9	11	420522	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08		420522	134585994	39	1977											
OR51L1	119682	broad.mit.edu	37	11	5020398	5020398	+	Silent	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:5020398T>C	uc010qyu.2	+	0	186	c.186T>C	c.(184-186)taT>taC	p.Y62Y		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCCATGTATTACTTTATTT	0.448													C	5020398	T	C	5020398	2	2	33	1	0	0	0	0	0	0	0	1	11102	1500	52	4		4	OR51L1	11	5020398	Silent	SNP	T	TCGA-06-0169-01A-01D-1490-08	4599876	5020398	129986118	40	1978											
LYVE1	10894	broad.mit.edu	37	11	10580685	10580685	+	Silent	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:10580685G>A	uc001miv.2	-	5	1228	c.942C>T	c.(940-942)acC>acT	p.T314T	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Silent_p.T210T	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	314					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		p.T314T(2)|p.T313S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GGCATCGCACGGTAGTTTTGC	0.463													A	10580685	G	A	10580685	2	1	33	1	0	0	0	0	0	0	0	1	9129	1103	39	2		2	LYVE1	11	10580685	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	5560287	10580685	124425831	41	1979											
MRGPRX1	259249	broad.mit.edu	37	11	18955854	18955854	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:18955854A>C	uc001mpg.3	-	0	696	c.478T>G	c.(478-480)Tta>Gta	p.L160V		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	160					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCCACATAACATCCACTCC	0.557													C	18955854	A	C	18955854	3	2	33	1	0	0	0	0	1	0	0	0	9766	40	2	5	494	5	MRGPRX1	11	18955854	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08	8375169	18955854	116050662	42	1980											
ATG2A	23130	broad.mit.edu	37	11	64663974	64663974	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:64663974G>A	uc001obx.3	-	38	5502	c.5387C>T	c.(5386-5388)gCc>gTc	p.A1796V	ATG2A_uc001obw.3_Missense_Mutation_p.A561V	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1796							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TTCCAGGGCGGCAGAGGCTGT	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64663974	G	A	64663974	3	1	33	1	0	0	0	0	1	0	0	0	1093	1203	42	3	441	3	ATG2A	11	64663974	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	45708120	64663974	70342542	43	1981											
DSCAML1	57453	broad.mit.edu	37	11	117306485	117306485	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:117306485C>T	uc001prh.1	-	26	4933	c.4931G>A	c.(4930-4932)gGt>gAt	p.G1644D		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1584					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATCCCCTTCACCTTGAGCAGA	0.522													T	117306485	C	T	117306485	3	4	33	1	0	0	0	0	1	0	0	0	4769	507	18	3	1438	3	DSCAML1	11	117306485	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	52642511	117306485	17700031	44	1982											
VPS11	55823	broad.mit.edu	37	11	118941054	118941054	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:118941054C>T	uc010ryx.2	+	4	619	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	VPS11_uc010ryy.2_Missense_Mutation_p.R41C	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	195					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ATTGGCCTTTCGCCAAGCAGG	0.517													T	118941054	C	T	118941054	3	4	33	1	0	0	0	0	1	0	0	0	17185	884	31	2	596	2	VPS11	11	118941054	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	1634569	118941054	16065462	45	1983											
ROBO4	54538	broad.mit.edu	37	11	124765757	124765757	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:124765757A>C	uc001qbg.3	-	4	871	c.731T>G	c.(730-732)cTg>cGg	p.L244R	ROBO4_uc010sas.2_Missense_Mutation_p.L99R|ROBO4_uc001qbh.2_Missense_Mutation_p.L134R|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	244					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CACATTTTCCAGCTGAATTCG	0.602													C	124765757	A	C	124765757	3	2	33	1	0	0	0	0	1	0	0	0	13516	188	7	5	2348	5	ROBO4	11	124765757	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08	5824703	124765757	10240759	46	1984											
PTPN6	5777	broad.mit.edu	37	12	7069548	7069548	+	Silent	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr12:7069548T>C	uc001qsb.2	+	13	1865	c.1623T>C	c.(1621-1623)taT>taC	p.Y541Y	PTPN6_uc001qsa.1_Silent_p.Y543Y|PTPN6_uc010sfr.1_Silent_p.Y502Y|PTPN6_uc009zfl.1_Silent_p.Y541Y|PTPN6_uc010sfs.1_Silent_p.Y529Y	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	541					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|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|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACATCACCTATCCCCCAGCCA	0.647													C	7069548	T	C	7069548	2	2	33	1	0	0	0	0	0	0	0	1	12792	1442	50	4		4	PTPN6	12	7069548	Silent	SNP	T	TCGA-06-0169-01A-01D-1490-08		7069548	126782347	47	1985											
ZC3H13	23091	broad.mit.edu	37	13	46559437	46559437	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr13:46559437T>C	uc010tfw.1	-	8	1721	c.1715A>G	c.(1714-1716)gAa>gGa	p.E572G	ZC3H13_uc001vas.1_Missense_Mutation_p.E572G|ZC3H13_uc001vat.1_Missense_Mutation_p.E572G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	572	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			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)		CTTACCCTTTTCAGGTAACTC	0.358													C	46559437	T	C	46559437	3	2	33	1	0	0	0	0	1	0	0	0	17562	1783	62	4	3011	4	ZC3H13	13	46559437	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08		46559437	68610441	48	1986											
OR4K13	390433	broad.mit.edu	37	14	20502502	20502502	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr14:20502502C>T	uc010tkz.2	-	0	416	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGTGAGCACCCGTGGGCTCAT	0.488													T	20502502	C	T	20502502	3	4	33	1	0	0	0	0	1	0	0	0	11068	652	23	2	500	2	OR4K13	14	20502502	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		20502502	86847038	49	1987											
NIPA2	81614	broad.mit.edu	37	15	23006662	23006662	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr15:23006662C>T	uc001yvb.3	-	9	1499	c.642G>A	c.(640-642)cgG>cgA	p.R214R	NIPA2_uc001yux.3_Silent_p.R214R|NIPA2_uc001yuy.3_Silent_p.R214R|NIPA2_uc001yuz.3_Silent_p.R214R|NIPA2_uc010ayb.3_Silent_p.R195R|NIPA2_uc001yva.3_Silent_p.R195R	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.	214						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CCAGGGGATGCCGCAGCACAG	0.502													T	23006662	C	T	23006662	2	4	33	1	0	0	0	0	0	0	0	1	10423	726	26	3		3	NIPA2	15	23006662	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08		23006662	79524730	50	1988											
MKRN3	7681	broad.mit.edu	37	15	23811322	23811322	+	Silent	SNP	C	C	T	rs36072495	byFrequency	TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr15:23811322C>T	uc001ywh.4	+	0	869	c.393C>T	c.(391-393)ggC>ggT	p.G131G	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.G131G	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	131						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGAGGGTGGCGTTTCGCCGC	0.622													T	23811322	C	T	23811322	2	4	33	1	0	0	0	0	0	0	0	1	9608	755	27	1		1	MKRN3	15	23811322	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	804660	23811322	78720070	51	1989											
CLCN7	1186	broad.mit.edu	37	16	1507700	1507700	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:1507700C>T	uc002clv.2	-	7	843	c.733G>A	c.(733-735)Gga>Aga	p.G245R	CLCN7_uc002clw.2_Missense_Mutation_p.G221R	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	245						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTTACCTTTCCCACGGCCAGG	0.632													T	1507700	C	T	1507700	3	4	33	1	0	0	0	0	1	0	0	0	3468	632	22	3	1756	3	CLCN7	16	1507700	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		1507700	88847053	52	1990											
PKD1	5310	broad.mit.edu	37	16	2147417	2147417	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:2147417C>T	uc002cos.1	-	32	10517	c.10308G>A	c.(10306-10308)caG>caA	p.Q3436Q	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.Q3435Q|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3436					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCGTGCCAGCTGCCGCAGAT	0.677													T	2147417	C	T	2147417	2	4	33	1	0	0	0	0	0	0	0	1	11963	796	28	3		3	PKD1	16	2147417	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	639717	2147417	88207336	53	1991											
GPR139	124274	broad.mit.edu	37	16	20043354	20043354	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:20043354C>T	uc002dgu.1	-	1	927	c.765G>A	c.(763-765)gcG>gcA	p.A255A	GPR139_uc010vaw.1_Silent_p.A162A	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	255						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTGGATGGGCGCCCCATAGA	0.532													T	20043354	C	T	20043354	2	4	33	1	0	0	0	0	0	0	0	1	6648	755	27	1		1	GPR139	16	20043354	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	17895937	20043354	70311399	54	1992											
KRT13	3860	broad.mit.edu	37	17	39659672	39659672	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:39659672C>T	uc002hwu.1	-	2	665	c.602G>A	c.(601-603)cGc>cAc	p.R201H	KRT13_uc002hwv.1_Missense_Mutation_p.R201H|KRT13_uc010wfr.2_Missense_Mutation_p.R94H|KRT13_uc010cxo.3_Missense_Mutation_p.R201H|KRT13_uc021txk.1_Missense_Mutation_p.R94H	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R201H(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CACGCTCTGGCGCAGGGCCAG	0.478													T	39659672	C	T	39659672	3	4	33	1	0	0	0	0	1	0	0	0	8450	768	27	1	798	1	KRT13	17	39659672	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		39659672	41535538	55	1993											
KRT14	3861	broad.mit.edu	37	17	39741254	39741254	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:39741254C>T	uc002hxf.2	-	1	642	c.581G>A	c.(580-582)cGt>cAt	p.R194H	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	194	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCGGCCAGACGGGCATTGTC	0.502													T	39741254	C	T	39741254	3	4	33	1	0	0	0	0	1	0	0	0	8451	536	19	1	865	1	KRT14	17	39741254	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	81582	39741254	41453956	56	1994											
MED13	9969	broad.mit.edu	37	17	60060308	60060308	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:60060308C>T	uc002izo.3	-	15	3133	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1019					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACGAGGAGTCCGAGGAGTCCT	0.512													T	60060308	C	T	60060308	3	4	33	1	0	0	0	0	1	0	0	0	9430	652	23	2	3528	2	MED13	17	60060308	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	20319054	60060308	21134902	57	1995											
MUC16	94025	broad.mit.edu	37	19	9067788	9067788	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:9067788delG	uc002mkp.3	-	2	19862	c.19658delC	c.(19657-19659)acafs	p.T6553fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6555	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6552A(1)		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						CAGCATATCTGTGGTCTTCAC	0.473													-	9067788	G	-	9067788	7	5	33	1	0	1	0	1	0	0	0	0	9973	1377	48	0	24193	0	MUC16	19	9067788	Frame_Shift_Del	DEL	G	TCGA-06-0169-01A-01D-1490-08		9067788	50061195	58	1996											
PAPL	390928	broad.mit.edu	37	19	39591660	39591660	+	Silent	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:39591660C>T	uc002oki.3	+	7	1153	c.879C>T	c.(877-879)aaC>aaT	p.N293N	PAPL_uc010egl.3_Missense_Mutation_p.T252M	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	293						extracellular region	acid phosphatase activity|metal ion binding										ACTGCTCCAACGCAGATCTGG	0.612													T	39591660	C	T	39591660	2	4	33	1	0	0	0	0	0	0	0	1	11427	535	19	1		1	PAPL	19	39591660	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	30523872	39591660	19537323	59	1997											
KDELR1	10945	broad.mit.edu	37	19	48887570	48887570	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:48887570C>T	uc002pjb.1	-	3	716	c.521G>A	c.(520-522)gGc>gAc	p.G174D	KDELR1_uc002pja.1_Missense_Mutation_p.G112D	NM_006801	NP_006792	P24390	ERD21_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (KDELR1), mRNA.	174					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GTCGAAGAAGCCCTCGAAATG	0.542													T	48887570	C	T	48887570	3	4	33	1	0	0	0	0	1	0	0	0	8119	739	26	3	125	3	KDELR1	19	48887570	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	9295910	48887570	10241413	60	1998											
TRPM4	54795	broad.mit.edu	37	19	49705399	49705400	+	Splice_Site	INS	-	-	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:49705399_49705400insT	uc002pmw.3	+	20	3239	c.3131_splice	c.e20+1	p.S1044_splice	TRPM4_uc010emu.3_Splice_Site_p.S899_splice|TRPM4_uc010yak.2_Splice_Site_p.S508_splice|TRPM4_uc002pmx.3_Splice_Site_p.S870_splice|TRPM4_uc010emv.3_Splice_Site_p.S929_splice|TRPM4_uc010yal.2_Splice_Site_p.S690_splice|TRPM4_uc002pmy.3_Splice_Site_p.S386_splice	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1044					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			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)		CCATGTTCAGGTGAGGCCTGAC	0.55													T	49705400	-	T	49705399	8	5	33	1	0	1	1	0	0	0	1	0	16585	1275	44	0	3210	0	TRPM4	19	49705399	Splice_Site	INS	-	TCGA-06-0169-01A-01D-1490-08	817829	49705399	9423584	61	1999											
SLC24A3	57419	broad.mit.edu	37	20	19677519	19677519	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:19677519C>T	uc002wrl.3	+	13	1767	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	524						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACCAGCGTGCCTGACTGCAT	0.592													T	19677519	C	T	19677519	3	4	33	1	0	0	0	0	1	0	0	0	14467	739	26	3	1624	3	SLC24A3	20	19677519	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		19677519	43348001	62	2000											
ZSWIM1	90204	broad.mit.edu	37	20	44512381	44512381	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:44512381T>C	uc021wem.1	+	0	1150	c.1150T>C	c.(1150-1152)Tgc>Cgc	p.C384R	ZSWIM1_uc010ghi.3_Missense_Mutation_p.C384R	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.	384							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CAGCTGCAGCTGCTACTTTAA	0.597													C	44512381	T	C	44512381	3	2	33	1	0	0	0	0	1	0	0	0	18237	1580	55	4	1152	4	ZSWIM1	20	44512381	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	24834862	44512381	18513139	63	2001											
COL20A1	57642	broad.mit.edu	37	20	61938888	61938888	+	Silent	SNP	C	C	G			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:61938888C>G	uc011aau.2	+	5	643	c.543C>G	c.(541-543)gtC>gtG	p.V181V	COL20A1_uc011aav.2_Silent_p.V2V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	181	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGACATGGTCTTCCTGGTGG	0.652													G	61938888	C	G	61938888	2	3	33	1	0	0	0	0	0	0	0	1	3679	900	32	5		5	COL20A1	20	61938888	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	17426507	61938888	1086632	64	2002											
TMPRSS2	7113	broad.mit.edu	37	21	42842599	42842599	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr21:42842599C>T	uc010gor.3	-	10	1319	c.1258G>A	c.(1258-1260)Ggg>Agg	p.G420R	TMPRSS2_uc002yzj.3_Missense_Mutation_p.G383R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G383R	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	383	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GCCCCCCACCCGGAAATCCAG	0.582			T	"ERG, ETV1, ETV4, ETV5"	prostate								T	42842599	C	T	42842599	3	4	33	1	0	0	0	0	1	0	0	0	16244	652	23	2	347	2	TMPRSS2	21	42842599	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		42842599	5287296	65	2003											
FBXO7	25793	broad.mit.edu	37	22	32887162	32887162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr22:32887162C>T	uc003amq.3	+	5	1244	c.961C>T	c.(961-963)Cga>Tga	p.R321*	FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amt.3_Nonsense_Mutation_p.R242*|FBXO7_uc003amu.3_Nonsense_Mutation_p.R207*|FBXO7_uc003amv.3_5'Flank	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	321					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTTTTACCCGACAAGGTAA	0.368													T	32887162	C	T	32887162	4	4	33	1	0	0	0	0	0	1	0	0	5760	644	23	2	1024	2	FBXO7	22	32887162	Nonsense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		32887162	18417404	66	2004											
EIF2S3	1968	broad.mit.edu	37	X	24094874	24094877	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chrX:24094874_24094877delCAAT	uc004dbc.3	+	11	1412_1415	c.1391_1394delCAAT	c.(1390-1395)acaatcfs	p.T464fs		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	464						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AGAGGAGTGACAATCAAGCCAACA	0.348													-	24094877	CAAT	-	24094874	7	5	33	1	0	1	0	1	0	0	0	0	5011	478	17	0	1437	0	EIF2S3	23	24094874	Frame_Shift_Del	DEL	CAAT	TCGA-06-0169-01A-01D-1490-08		24094874	131175686	67	2005											
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chrX:72433664_72433666delTCC	uc004ebi.3	-	0	1045_1047	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													-	72433666	TCC	-	72433664	7	5	33	1	0	1	0	1	0	0	0	0	10157	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-06-0169-01A-01D-1490-08	48338790	72433664	82836896	68	2006											
TMCO4	255104	broad.mit.edu	37	1	20107156	20107156	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:20107156C>T	uc001bcn.3	-	3	338	c.96G>A	c.(94-96)cgG>cgA	p.R32R	TMCO4_uc001bco.1_Silent_p.R32R|TMCO4_uc001bcp.1_Silent_p.R32R|TMCO4_uc009vpn.1_Silent_p.R32R|TMCO4_uc001bcq.1_Silent_p.R32R	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	32						integral to membrane				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)		CAGTCAGCTCCCGGCCCGTGG	0.612													T	20107156	C	T	20107156	2	4	34	1	0	0	0	0	0	0	0	1	15995	610	22	3		3	TMCO4	1	20107156	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08		20107156	229143465	1	2007											
ARID1A	8289	broad.mit.edu	37	1	27101098	27101098	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:27101098C>T	uc001bmv.1	+	17	4753	c.4380C>T	c.(4378-4380)ggC>ggT	p.G1460G	ARID1A_uc001bmt.1_Silent_p.G1459G|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Silent_p.G1077G|ARID1A_uc001bmx.1_Silent_p.G306G|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1460					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAGTTTGGCCGAGACCGTG	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27101098	C	T	27101098	2	4	34	1	0	0	0	0	0	0	0	1	913	726	26	3		3	ARID1A	1	27101098	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	6993942	27101098	222149523	2	2008											
GNL2	29889	broad.mit.edu	37	1	38049466	38049466	+	Splice_Site	DEL	A	A	-			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:38049466delA	uc001cbk.3	-	6	799	c.636_splice	c.e6+1	p.K212_splice	GNL2_uc010oif.1_Splice_Site_p.K53_splice|GNL2_uc009vve.2_3'UTR	NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	212					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TAGGAGTCTTACCTTGTAGAG	0.383													-	38049466	A	-	38049466	8	5	34	1	0	1	0	1	0	0	1	0	6536	405	14	0	1601	0	GNL2	1	38049466	Splice_Site	DEL	A	TCGA-06-0173-01A-01D-1491-08	10948368	38049466	211201155	3	2009											
ISG20L2	81875	broad.mit.edu	37	1	156697400	156697400	+	Silent	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:156697400G>C	uc001fps.1	-	0	306	c.45C>G	c.(43-45)ccC>ccG	p.P15P	ISG20L2_uc001fpt.1_Silent_p.P15P|RRNAD1_uc001fpu.3_5'Flank|RRNAD1_uc001fpv.3_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	15					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCCTTTTTGGGAGGAGGTT	0.458													C	156697400	G	C	156697400	2	2	34	1	0	0	0	0	0	0	0	1	7855	1335	47	5		5	ISG20L2	1	156697400	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	118647934	156697400	92553221	4	2010											
NFASC	23114	broad.mit.edu	37	1	204943900	204943900	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:204943900G>A	uc010prc.2	+	12	1737	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	NFASC_uc001hbh.3_Missense_Mutation_p.A503T|NFASC_uc010pqz.2_Missense_Mutation_p.A497T|NFASC_uc001hbj.3_Missense_Mutation_p.A503T|NFASC_uc010pra.2_Missense_Mutation_p.A514T|NFASC_uc001hbi.3_Missense_Mutation_p.A514T|NFASC_uc010prb.2_Missense_Mutation_p.A514T|NFASC_uc001hbk.1_Missense_Mutation_p.A324T			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	503	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.A503T(2)|p.A514T(1)|p.W69*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTGTGTCGCCACCAACAT	0.532													A	204943900	G	A	204943900	3	1	34	1	0	0	0	0	1	0	0	0	10359	1087	38	1	1608	1	NFASC	1	204943900	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	48246500	204943900	44306721	5	2011											
OBSCN	84033	broad.mit.edu	37	1	228520994	228520994	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:228520994C>T	uc009xez.1	+	57	15870	c.15826C>T	c.(15826-15828)Cgc>Tgc	p.R5276C	OBSCN_uc001hsn.3_Missense_Mutation_p.R5276C|OBSCN_uc001hsr.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5276	Ig-like 50.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGGCACACGCCTGGCCAA	0.637													T	228520994	C	T	228520994	3	4	34	1	0	0	0	0	1	0	0	0	10812	536	19	1	16052	1	OBSCN	1	228520994	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	23577094	228520994	20729627	6	2012											
OR2W5	441932	broad.mit.edu	37	1	247654765	247654765	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:247654765C>T	uc001icz.2	+	0	396	c.336C>T	c.(334-336)tgC>tgT	p.C112C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCACCGAGTGCGTCCTCCTGG	0.602													T	247654765	C	T	247654765	2	4	34	1	0	0	0	0	0	0	0	1	11034	776	27	1		1	OR2W5	1	247654765	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	19133771	247654765	1595856	7	2013											
APOB	338	broad.mit.edu	37	2	21235218	21235218	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:21235218C>T	uc002red.3	-	25	4650	c.4522G>A	c.(4522-4524)Gat>Aat	p.D1508N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1508					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTTAGGATCCCTCTGACAA	0.458													T	21235218	C	T	21235218	3	4	34	1	0	0	0	0	1	0	0	0	785	855	30	3	9185	3	APOB	2	21235218	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		21235218	221964155	8	2014											
GPR113	165082	broad.mit.edu	37	2	26533656	26533656	+	Silent	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:26533656G>T	uc002rhe.4	-	10	2940	c.2940C>A	c.(2938-2940)ccC>ccA	p.P980P	GPR113_uc010yky.1_Silent_p.P911P|GPR113_uc002rhb.1_Silent_p.P583P|GPR113_uc010eyk.1_Silent_p.P781P|GPR113_uc002rhc.1_Silent_p.P583P|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	980					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAAAGATGGGTGTAAGAA	0.572													T	26533656	G	T	26533656	2	4	34	1	0	0	0	0	0	0	0	1	6630	1335	47	5		5	GPR113	2	26533656	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	5298438	26533656	216665717	9	2015											
NBEAL1	65065	broad.mit.edu	37	2	204002914	204002914	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:204002914T>C	uc002uzt.3	+	28	4841	c.4508T>C	c.(4507-4509)aTc>aCc	p.I1503T	NBEAL1_uc021vvj.1_Missense_Mutation_p.I206T	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1503							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAATGGGCAATCTCAGAAAAC	0.373													C	204002914	T	C	204002914	3	2	34	1	0	0	0	0	1	0	0	0	10188	1435	50	4	4618	4	NBEAL1	2	204002914	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	177469258	204002914	39196459	10	2016											
MARCH4	57574	broad.mit.edu	37	2	217234886	217234886	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:217234886C>T	uc002vgb.3	-	0	1865	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	33						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCCTGGTGGCGCAACATCTG	0.632													T	217234886	C	T	217234886	3	4	34	1	0	0	0	0	1	0	0	0	9303	768	27	1	1150	1	MARCH4	2	217234886	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	13231972	217234886	25964487	11	2017											
SPP2	6694	broad.mit.edu	37	2	234959451	234959451	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:234959451G>A	uc002vvk.1	+	0	106	c.21G>A	c.(19-21)aaG>aaA	p.K7K	SPP2_uc010fyl.1_5'UTR	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	7					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GAATGGAGAAGATGACGATGA	0.423													A	234959451	G	A	234959451	2	1	34	1	0	0	0	0	0	0	0	1	15086	933	33	3		3	SPP2	2	234959451	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	17724565	234959451	8239922	12	2018											
TTLL3	26140	broad.mit.edu	37	3	9839460	9839463	+	Splice_Site	DEL	AGGT	AGGT	-			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:9839460_9839463delAGGT	uc003btd.4	+	2	696	c.122_splice	c.e2+1	p.R41_splice	TTLL3_uc003btb.2_Splice_Site|TTLL3_uc003bta.2_Splice_Site|TTLL3_uc003bsz.2_Splice_Site_p.R41_splice|TTLL3_uc003btc.2_Splice_Site|TTLL3_uc021wsu.1_Splice_Site_p.R60_splice	NM_001198793	NP_001185722	Q9Y4R7	TTLL3_HUMAN	Homo sapiens ARPC4-TTLL3 readthrough (ARPC4-TTLL3), mRNA.	0					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGTGGAAGTCAGGTAGGGAAGGAC	0.564													-	9839463	AGGT	-	9839460	8	5	34	1	0	1	0	1	0	0	1	0	16725	202	7	0		0	TTLL3	3	9839460	Splice_Site	DEL	AGGT	TCGA-06-0173-01A-01D-1491-08		9839460	188182970	13	2019											
GUCA1C	9626	broad.mit.edu	37	3	108627021	108627021	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:108627021C>A	uc003dxj.2	-	3	546	c.478G>T	c.(478-480)Gca>Tca	p.A160S	GUCA1C_uc003dxk.2_Missense_Mutation_p.G173V	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	160	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TGATCTTTTGCCATGCCATTG	0.398													A	108627021	C	A	108627021	3	1	34	1	0	0	0	0	1	0	0	0	6890	739	26	5	155	5	GUCA1C	3	108627021	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	98787561	108627021	89395409	14	2020											
ABHD10	55347	broad.mit.edu	37	3	111697949	111697949	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:111697949C>T	uc003dyk.4	+	0	122	c.41C>T	c.(40-42)cCt>cTt	p.P14L	ABHD10_uc011bhq.2_5'UTR	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA.	14						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						GCCTGGGTACCTTGTCGGAGC	0.682													T	111697949	C	T	111697949	3	4	34	1	0	0	0	0	1	0	0	0	74	681	24	3	43	3	ABHD10	3	111697949	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	3070928	111697949	86324481	15	2021											
AFAP1	60312	broad.mit.edu	37	4	7802222	7802222	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:7802222G>A	uc011bwk.1	-	9	1486	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	AFAP1_uc003gkg.1_Missense_Mutation_p.H405Y	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	405	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GTCAGAGGATGTTTAGAATCC	0.547													A	7802222	G	A	7802222	3	1	34	1	0	0	0	0	1	0	0	0	353	1377	48	3	1267	3	AFAP1	4	7802222	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		7802222	183352054	16	2022											
C4orf21	55345	broad.mit.edu	37	4	113510967	113510968	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:113510967_113510968delTT	uc003iau.3	-	10	3250_3251	c.3039_3040delAA	c.(3037-3042)tcaagafs	p.S1013fs	C4orf21_uc003iav.3_5'Flank|C4orf21_uc003iaw.3_Frame_Shift_Del_p.S1013fs	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	1013										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCTTCATCTCTTGAGTTCAAAG	0.391													-	113510968	TT	-	113510967	7	5	34	1	0	1	0	1	0	0	0	0	2254	1617	56	0	3346	0	C4orf21	4	113510967	Frame_Shift_Del	DEL	TT	TCGA-06-0173-01A-01D-1491-08	105708745	113510967	77643309	17	2023											
LRAT	9227	broad.mit.edu	37	4	155670163	155670163	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:155670163C>T	uc003iom.1	+	1	895	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	LRAT_uc003ion.1_Missense_Mutation_p.R190C	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	190					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GATAATTATTCGTGATCAGAG	0.373													T	155670163	C	T	155670163	3	4	34	1	0	0	0	0	1	0	0	0	8930	884	31	2	574	2	LRAT	4	155670163	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	42159196	155670163	35484113	18	2024											
ANP32C	23520	broad.mit.edu	37	4	165118645	165118645	+	Silent	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:165118645T>A	uc011cjk.2	-	0	219	c.219A>T	c.(217-219)tcA>tcT	p.S73S	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	73										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CCAGGCCCCCTGAGACTCTTA	0.403													A	165118645	T	A	165118645	2	1	34	1	0	0	0	0	0	0	0	1	707	1567	55	5		5	ANP32C	4	165118645	Silent	SNP	T	TCGA-06-0173-01A-01D-1491-08	9448482	165118645	26035631	19	2025											
TRIML1	339976	broad.mit.edu	37	4	189068289	189068289	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:189068289G>T	uc003izm.1	+	5	1285	c.1170G>T	c.(1168-1170)tgG>tgT	p.W390C	TRIML1_uc003izn.1_Missense_Mutation_p.W114C	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	390	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			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)		ACAGCCTCTGGGTCTCGTCAC	0.488													T	189068289	G	T	189068289	3	4	34	1	0	0	0	0	1	0	0	0	16547	1241	43	5	1192	5	TRIML1	4	189068289	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	23949644	189068289	2085987	20	2026											
CDH9	1007	broad.mit.edu	37	5	26902711	26902711	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:26902711T>A	uc003jgs.1	-	6	1296	c.1127A>T	c.(1126-1128)gAt>gTt	p.D376V		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	376	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E375E(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCATCTATATCTTCCACAGA	0.408													A	26902711	T	A	26902711	3	1	34	1	0	0	0	0	1	0	0	0	3117	1435	50	5	1266	5	CDH9	5	26902711	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08		26902711	154012549	21	2027											
LHFPL2	10184	broad.mit.edu	37	5	77805969	77805969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:77805969G>A	uc003kfo.3	-	3	744	c.68C>T	c.(67-69)gCc>gTc	p.A23V		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	23						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		AATGAGCTCGGCAAAAGCCAC	0.617													A	77805969	G	A	77805969	3	1	34	1	0	0	0	0	1	0	0	0	8765	1203	42	3	626	3	LHFPL2	5	77805969	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	50903258	77805969	103109291	22	2028											
CCDC112	153733	broad.mit.edu	37	5	114607281	114607281	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:114607281C>T	uc003kqz.2	-	6	1179	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	CCDC112_uc003kqy.2_Missense_Mutation_p.E238K|CCDC112_uc003kra.2_Missense_Mutation_p.E321K	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	238										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTGAAAATTTCCTCCCTTTTT	0.289													T	114607281	C	T	114607281	3	4	34	1	0	0	0	0	1	0	0	0	2749	864	30	3	644	3	CCDC112	5	114607281	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	36801312	114607281	66307979	23	2029											
ODZ2	57451	broad.mit.edu	37	5	167674863	167674863	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:167674863C>T	uc010jjd.3	+	26	6892	c.6892C>T	c.(6892-6894)Cgg>Tgg	p.R2298W	ODZ2_uc003lzr.4_Missense_Mutation_p.R2068W|ODZ2_uc003lzt.4_Missense_Mutation_p.R1671W|ODZ2_uc010jje.3_Missense_Mutation_p.R1562W	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGGCGTAGGACGGCGGGCTTC	0.552													T	167674863	C	T	167674863	3	4	34	1	0	0	0	0	1	0	0	0	10835	527	19	1	6998	1	ODZ2	5	167674863	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	53067582	167674863	13240397	24	2030											
OR10C1	442194	broad.mit.edu	37	6	29408233	29408233	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:29408233G>A	uc011dlp.2	+	0	518	c.441G>A	c.(439-441)gcG>gcA	p.A147A	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S146L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGGTCGGCGTGGGCCTGTG	0.622													A	29408233	G	A	29408233	2	1	34	1	0	0	0	0	0	0	0	1	10898	1132	40	1		1	OR10C1	6	29408233	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08		29408233	141706834	25	2031											
GRM4	2914	broad.mit.edu	37	6	34101001	34101001	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:34101001G>A	uc003oir.4	-	0	636	c.273C>T	c.(271-273)aaC>aaT	p.N91N	GRM4_uc011dsn.2_Silent_p.N91N|GRM4_uc010jvh.3_Silent_p.N91N|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Silent_p.N10N	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	91					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)	GGTCCGGGTCGTTGTTGATGC	0.622													A	34101001	G	A	34101001	2	1	34	1	0	0	0	0	0	0	0	1	6799	1136	40	1		1	GRM4	6	34101001	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	4692768	34101001	137014066	26	2032											
DNAH8	1769	broad.mit.edu	37	6	38704936	38704936	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:38704936A>G	uc021yzh.1	+	5	965	c.856A>G	c.(856-858)Aca>Gca	p.T286A	DNAH8_uc003ooe.2_Missense_Mutation_p.T69A	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						TGTTCTTGCAACAAACAACTG	0.383													G	38704936	A	G	38704936	3	3	34	1	0	0	0	0	1	0	0	0	4607	43	2	4	211	4	DNAH8	6	38704936	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	4603935	38704936	132410131	27	2033											
AIM1	202	broad.mit.edu	37	6	106967934	106967934	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:106967934T>C	uc003prh.3	+	1	2539	c.1627T>C	c.(1627-1629)Tcc>Ccc	p.S543P		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	543							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGAGTGTCCATCCAGAGTCCT	0.527													C	106967934	T	C	106967934	3	2	34	1	0	0	0	0	1	0	0	0	430	1435	50	4	1633	4	AIM1	6	106967934	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	68262998	106967934	64147133	28	2034											
C6orf170	221322	broad.mit.edu	37	6	121642861	121642861	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:121642861T>C	uc003pyo.1	-	1	303	c.235A>G	c.(235-237)Aca>Gca	p.T79A	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	79					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		CGATCAGATGTGCATTTTTCC	0.368													C	121642861	T	C	121642861	3	2	34	1	0	0	0	0	1	0	0	0	2344	1696	59	4	3662	4	C6orf170	6	121642861	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	14674927	121642861	49472206	29	2035											
FNDC1	84624	broad.mit.edu	37	6	159653416	159653416	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:159653416G>A	uc010kjv.3	+	10	2072	c.1872G>A	c.(1870-1872)gcG>gcA	p.A624A	FNDC1_uc010kjw.1_Silent_p.A509A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	624						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCACCACGCGTCCACCCAGG	0.667													A	159653416	G	A	159653416	2	1	34	1	0	0	0	0	0	0	0	1	5968	1132	40	1		1	FNDC1	6	159653416	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	38010555	159653416	11461651	30	2036											
SLC22A2	6582	broad.mit.edu	37	6	160679423	160679423	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:160679423G>A	uc003qtf.3	-	0	541	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	SLC22A2_uc003qth.2_Missense_Mutation_p.R123W	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	123					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGCCGTCCCGGCAGGGGCCC	0.627													A	160679423	G	A	160679423	3	1	34	1	0	0	0	0	1	0	0	0	14450	1115	39	2	1344	2	SLC22A2	6	160679423	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	1026007	160679423	10435644	31	2037											
HECW1	23072	broad.mit.edu	37	7	43519279	43519279	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:43519279G>A	uc003tid.1	+	16	3775	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	HECW1_uc011kbi.1_Missense_Mutation_p.R1023H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1057					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGAACGGTCGTCTTCCCAAT	0.542													A	43519279	G	A	43519279	3	1	34	1	0	0	0	0	1	0	0	0	7042	1145	40	1	3228	1	HECW1	7	43519279	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		43519279	115619384	32	2038											
BAZ1B	9031	broad.mit.edu	37	7	72892641	72892641	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:72892641T>A	uc003tyc.3	-	6	1502	c.1150A>T	c.(1150-1152)Att>Ttt	p.I384F		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	384	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTTAGGAATGTGAAAGTTA	0.433													A	72892641	T	A	72892641	3	1	34	1	0	0	0	0	1	0	0	0	1330	1464	51	5	3353	5	BAZ1B	7	72892641	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	29373362	72892641	86246022	33	2039											
PIK3CG	5294	broad.mit.edu	37	7	106524646	106524646	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:106524646G>C	uc003vdv.4	+	8	2892	c.2807G>C	c.(2806-2808)tGt>tCt	p.C936S	PIK3CG_uc003vdu.3_Missense_Mutation_p.C936S|PIK3CG_uc003vdw.3_Missense_Mutation_p.C936S	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	936	PI3K/PI4K.				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.C936S(2)		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						GCAGGCTACTGTGTGGCAACC	0.363													C	106524646	G	C	106524646	3	2	34	1	0	0	0	0	1	0	0	0	11916	1377	48	5	2837	5	PIK3CG	7	106524646	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	33632005	106524646	52614017	34	2040											
IMPDH1	3614	broad.mit.edu	37	7	128038490	128038490	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:128038490G>A	uc011kol.1	-	6	903	c.797C>T	c.(796-798)gCg>gTg	p.A266V	IMPDH1_uc011kom.1_Missense_Mutation_p.A261V|IMPDH1_uc003vmt.2_Missense_Mutation_p.A241V|IMPDH1_uc003vmu.2_Missense_Mutation_p.A351V|IMPDH1_uc003vmx.2_Missense_Mutation_p.A274V|IMPDH1_uc003vmy.2_Missense_Mutation_p.A282V|IMPDH1_uc003vmw.2_Missense_Mutation_p.A341V|IMPDH1_uc011kon.1_Missense_Mutation_p.A318V|IMPDH1_uc003vmv.2_Missense_Mutation_p.A315V	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	266					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GTCGACGCCCGCCTGGGTGAG	0.602											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	128038490	G	A	128038490	3	1	34	1	0	0	0	0	1	0	0	0	7726	1087	38	1	779	1	IMPDH1	7	128038490	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	21513844	128038490	31100173	35	2041											
CLCN1	1180	broad.mit.edu	37	7	143029823	143029823	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:143029823C>T	uc003wcr.1	+	11	1345	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	CLCN1_uc011ktc.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	420					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P420P(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)					CCAGTTGATGCCCCGCGAAGC	0.522													T	143029823	C	T	143029823	3	4	34	1	0	0	0	0	1	0	0	0	3462	739	26	3	1304	3	CLCN1	7	143029823	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	14991333	143029823	16108840	36	2042											
OR2F2	135948	broad.mit.edu	37	7	143632969	143632969	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:143632969T>A	uc011ktv.2	+	0	644	c.644T>A	c.(643-645)cTg>cAg	p.L215Q		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	215					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)					TGCCTGGTTCTGTTGTCCTAC	0.517													A	143632969	T	A	143632969	3	1	34	1	0	0	0	0	1	0	0	0	10997	1580	55	5	646	5	OR2F2	7	143632969	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	603146	143632969	15505694	37	2043											
CNTNAP2	26047	broad.mit.edu	37	7	147914464	147914464	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:147914464G>T	uc003weu.2	+	18	3611	c.3095G>T	c.(3094-3096)aGa>aTa	p.R1032I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1032					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCAGCAGCAGAGTAGACAAC	0.532										HNSCC(39;0.1)			T	147914464	G	T	147914464	3	4	34	1	0	0	0	0	1	0	0	0	3647	942	33	5	3169	5	CNTNAP2	7	147914464	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	4281495	147914464	11224199	38	2044											
UBE3C	9690	broad.mit.edu	37	7	156976584	156976584	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:156976584A>T	uc010lqs.3	+	8	1316	c.1004A>T	c.(1003-1005)gAg>gTg	p.E335V	UBE3C_uc003wnf.2_Missense_Mutation_p.E292V|UBE3C_uc003wng.2_Missense_Mutation_p.E335V	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	335					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			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)		GCCCTCTCTGAGGAAGGGCTG	0.473													T	156976584	A	T	156976584	3	4	34	1	0	0	0	0	1	0	0	0	16878	304	11	5	1038	5	UBE3C	7	156976584	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	9062120	156976584	2162079	39	2045											
SCARA5	286133	broad.mit.edu	37	8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:27737142C>T	uc003xgj.3	-	7	1906	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_uc010luz.3_Missense_Mutation_p.R207H	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	432	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCGAGCATGCGGCACACCAC	0.642													T	27737142	C	T	27737142	3	4	34	1	0	0	0	0	1	0	0	0	13880	768	27	1	200	1	SCARA5	8	27737142	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		27737142	118626880	40	2046											
NRG1	3084	broad.mit.edu	37	8	31497984	31497984	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:31497984G>C	uc003xip.3	+	0	717	c.484G>C	c.(484-486)Gtg>Ctg	p.V162L	NRG1_uc022ats.1_Intron	NM_013962	NP_039256	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant GGF2, mRNA.	0					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			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)		GCCCTATCTGGTGAAGGTGCA	0.741													C	31497984	G	C	31497984	3	2	34	1	0	0	0	0	1	0	0	0	10647	1261	44	5	486	5	NRG1	8	31497984	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	3760842	31497984	114866038	41	2047											
SULF1	23213	broad.mit.edu	37	8	70515453	70515453	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:70515453A>T	uc003xyg.2	+	9	1649	c.1088A>T	c.(1087-1089)gAc>gTc	p.D363V	SULF1_uc010lza.1_Missense_Mutation_p.D363V|SULF1_uc003xyd.2_Missense_Mutation_p.D363V|SULF1_uc003xye.2_Missense_Mutation_p.D363V|SULF1_uc003xyf.2_Missense_Mutation_p.D363V|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	363					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTCAACATTGACTTGGCCCCC	0.537													T	70515453	A	T	70515453	3	4	34	1	0	0	0	0	1	0	0	0	15369	275	10	5	1114	5	SULF1	8	70515453	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	39017469	70515453	75848569	42	2048											
RIMS2	9699	broad.mit.edu	37	8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:105001535G>A	uc003yls.3	+	14	2505	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	RIMS2_uc003ylp.3_Missense_Mutation_p.R977Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylq.3_Missense_Mutation_p.R769Q|RIMS2_uc003ylr.3_Missense_Mutation_p.R816Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1039					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R755S(1)|p.G754R(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)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)			A	105001535	G	A	105001535	3	1	34	1	0	0	0	0	1	0	0	0	13368	1116	39	2	3122	2	RIMS2	8	105001535	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	34486082	105001535	41362487	43	2049											
EPPK1	83481	broad.mit.edu	37	8	144947336	144947336	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:144947336G>A	uc003zaa.1	-	0	99	c.86C>T	c.(85-87)aCg>aTg	p.T29M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	29						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTCCCAGCGTGGCTGCCAT	0.672													A	144947336	G	A	144947336	3	1	34	1	0	0	0	0	1	0	0	0	5190	1145	40	1	7180	1	EPPK1	8	144947336	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	39945801	144947336	1416686	44	2050											
C9orf66	157983	broad.mit.edu	37	9	214916	214916	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:214916G>A	uc003zge.4	-	0	978	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	DOCK8_uc011lls.1_5'UTR|DOCK8_uc003zgf.2_5'UTR	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.	161								p.R161C(2)		central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		ACTCTGCGGCGCGCCAGGCCC	0.687													A	214916	G	A	214916	3	1	34	1	0	0	0	0	1	0	0	0	2490	1087	38	1	410	1	C9orf66	9	214916	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		214916	140998515	45	2051											
SUSD1	64420	broad.mit.edu	37	9	114874102	114874102	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:114874102G>A	uc010mui.3	-	7	1044	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.R335W|SUSD1_uc010muj.3_Missense_Mutation_p.R335W			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	335						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGTCCAACCGTTGTCCTTTT	0.498													A	114874102	G	A	114874102	3	1	34	1	0	0	0	0	1	0	0	0	15404	1144	40	1	1280	1	SUSD1	9	114874102	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	114659186	114874102	26339329	46	2052											
LAMC3	10319	broad.mit.edu	37	9	133927946	133927946	+	Missense_Mutation	SNP	G	G	A	rs142796007	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:133927946G>A	uc004caa.1	+	9	1797	c.1699G>A	c.(1699-1701)Ggg>Agg	p.G567R		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	567	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGTGCCCCCCGGGGACTCCCC	0.622											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	133927946	G	A	133927946	3	1	34	1	0	0	0	0	1	0	0	0	8616	1116	39	2	1737	2	LAMC3	9	133927946	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	19053844	133927946	7285485	47	2053											
ACTA2	59	broad.mit.edu	37	10	90699345	90699345	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr10:90699345C>T	uc001kfp.3	-	6	843	c.727G>A	c.(727-729)Gag>Aag	p.E243K	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.E198K|ACTA2_uc001kfq.3_Missense_Mutation_p.E243K|AX748062_uc001kfo.1_Non-coding_Transcript	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	243					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TCAGGCAACTCGTAACTCTTC	0.512													T	90699345	C	T	90699345	3	4	34	1	0	0	0	0	1	0	0	0	192	893	31	2	418	2	ACTA2	10	90699345	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		90699345	44835402	48	2054											
OR51E2	81285	broad.mit.edu	37	11	4703067	4703067	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:4703067C>G	uc001lzk.2	-	1	1119	c.875G>C	c.(874-876)gGt>gCt	p.G292A	OR51E2_uc021qcr.1_Missense_Mutation_p.G292A	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGTTTTGGCACCATAGATGAT	0.507													G	4703067	C	G	4703067	3	3	34	1	0	0	0	0	1	0	0	0	11095	507	18	5	91	5	OR51E2	11	4703067	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		4703067	130303449	49	2055											
OR5I1	10798	broad.mit.edu	37	11	55703533	55703533	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:55703533A>T	uc010ris.2	-	0	344	c.344T>A	c.(343-345)tTc>tAc	p.F115Y		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGCCAGGATGAAGGATTCTGT	0.433													T	55703533	A	T	55703533	3	4	34	1	0	0	0	0	1	0	0	0	11164	246	9	5	603	5	OR5I1	11	55703533	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	51000466	55703533	79302983	50	2056											
AHNAK	79026	broad.mit.edu	37	11	62285595	62285595	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:62285595C>T	uc001ntl.3	-	4	16594	c.16294G>A	c.(16294-16296)Gaa>Aaa	p.E5432K	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5432					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTTCAGTTCGCCAGAAACC	0.527													T	62285595	C	T	62285595	3	4	34	1	0	0	0	0	1	0	0	0	414	893	31	2	1498	2	AHNAK	11	62285595	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	6582062	62285595	72720921	51	2057											
SLC22A9	114571	broad.mit.edu	37	11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:63174115G>A	uc001nww.3	+	6	1488	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	407					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483													A	63174115	G	A	63174115	3	1	34	1	0	0	0	0	1	0	0	0	14461	1058	37	2	1246	2	SLC22A9	11	63174115	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	888520	63174115	71832401	52	2058											
KIAA1377	57562	broad.mit.edu	37	11	101815013	101815013	+	Missense_Mutation	SNP	G	G	A	rs145886481		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:101815013G>A	uc001pgm.3	+	2	536	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	KIAA1377_uc001pgn.3_Missense_Mutation_p.R45Q|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	89							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAGGAGAAACGAAAAGAACAG	0.313													A	101815013	G	A	101815013	3	1	34	1	0	0	0	0	1	0	0	0	8227	1058	37	2	276	2	KIAA1377	11	101815013	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	38640898	101815013	33191503	53	2059											
UBASH3B	84959	broad.mit.edu	37	11	122653798	122653798	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:122653798G>A	uc001pyi.4	+	4	999	c.639G>A	c.(637-639)gtG>gtA	p.V213V		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	213						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGCTACATGTGACCCTGGCTT	0.473													A	122653798	G	A	122653798	2	1	34	1	0	0	0	0	0	0	0	1	16837	1277	45	3		3	UBASH3B	11	122653798	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	20838785	122653798	12352718	54	2060											
APLP2	334	broad.mit.edu	37	11	130005535	130005535	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:130005535G>A	uc010sby.2	+	12	1919	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	APLP2_uc001qfp.3_Missense_Mutation_p.V588M|APLP2_uc001qfq.3_Missense_Mutation_p.V532M|APLP2_uc010sbz.2_Missense_Mutation_p.V376M|APLP2_uc001qfr.3_Missense_Mutation_p.V354M|APLP2_uc001qfs.3_Missense_Mutation_p.V359M|APLP2_uc021qsg.1_Missense_Mutation_p.V598M|APLP2_uc001qfv.3_Missense_Mutation_p.V479M|DQ600312_uc021qsh.1_5'Flank	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	588					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGACGTCCGGGTGAGCTCTGA	0.592													A	130005535	G	A	130005535	3	1	34	1	0	0	0	0	1	0	0	0	779	1261	44	3	1812	3	APLP2	11	130005535	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	7351737	130005535	5000981	55	2061											
CAPRIN2	65981	broad.mit.edu	37	12	30888067	30888067	+	Missense_Mutation	SNP	C	C	T	rs139487645	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:30888067C>T	uc001rji.1	-	3	1395	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R12Q|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjk.4_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjl.4_Missense_Mutation_p.R215Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	215					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.R215Q(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAGTATAGTTCGAAGCTTTTT	0.413													T	30888067	C	T	30888067	3	4	34	1	0	0	0	0	1	0	0	0	2636	884	31	2	2799	2	CAPRIN2	12	30888067	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		30888067	102963828	56	2062											
OR6C3	254786	broad.mit.edu	37	12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	rs139430640		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:55725701G>A	uc010spj.2	+	0	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428													A	55725701	G	A	55725701	3	1	34	1	0	0	0	0	1	0	0	0	11192	1145	40	1	219	1	OR6C3	12	55725701	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	24837634	55725701	78126194	57	2063											
PPFIA2	8499	broad.mit.edu	37	12	81747072	81747072	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:81747072C>A	uc001szo.2	-	16	1981	c.1820G>T	c.(1819-1821)gGa>gTa	p.G607V	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G533V|PPFIA2_uc021rbh.1_Missense_Mutation_p.G508V|PPFIA2_uc021rbi.1_Missense_Mutation_p.G607V|PPFIA2_uc021rbj.1_Missense_Mutation_p.G607V|PPFIA2_uc021rbk.1_Missense_Mutation_p.G589V|PPFIA2_uc021rbl.1_Missense_Mutation_p.G607V|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G174V|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	533								p.G607G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTTAGTACTCCAATCTGTTG	0.368													A	81747072	C	A	81747072	3	1	34	1	0	0	0	0	1	0	0	0	12310	855	30	5	2017	5	PPFIA2	12	81747072	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	26021371	81747072	52104823	58	2064											
ANO4	121601	broad.mit.edu	37	12	101520783	101520783	+	Missense_Mutation	SNP	C	C	T	rs139827573		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:101520783C>T	uc010svm.1	+	26	3375	c.2803C>T	c.(2803-2805)Cgt>Tgt	p.R935C	ANO4_uc001thw.2_Missense_Mutation_p.R900C|ANO4_uc001thx.2_Missense_Mutation_p.R935C|ANO4_uc001thy.2_Missense_Mutation_p.R455C	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	935						chloride channel complex	chloride channel activity	p.R900S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAACTGGAACGTCTCCAGAA	0.483										HNSCC(74;0.22)			T	101520783	C	T	101520783	3	4	34	1	0	0	0	0	1	0	0	0	699	536	19	1	2796	1	ANO4	12	101520783	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	19773711	101520783	32331112	59	2065											
TMEM132D	121256	broad.mit.edu	37	12	130184923	130184923	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:130184923G>C	uc009zyl.1	-	1	728	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	134						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)		TTGTCCCGCAGGATGTGGGCT	0.537													C	130184923	G	C	130184923	3	2	34	1	0	0	0	0	1	0	0	0	16044	991	35	5	2931	5	TMEM132D	12	130184923	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	28664140	130184923	3666972	60	2066											
FLT1	2321	broad.mit.edu	37	13	28931760	28931760	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:28931760C>A	uc001usb.3	-	14	2464	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C		NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	727	Ig-like C2-type 7.				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.G727C(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)	TGATAGACACCTTCATCCTCT	0.448													A	28931760	C	A	28931760	3	1	34	1	0	0	0	0	1	0	0	0	5941	681	24	5	1901	5	FLT1	13	28931760	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		28931760	86238118	61	2067											
ANKRD10	55608	broad.mit.edu	37	13	111532388	111532388	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:111532388G>A	uc001vrn.3	-	5	994	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	ANKRD10_uc001vrm.3_Missense_Mutation_p.P24S|ANKRD10_uc001vrl.3_Non-coding_Transcript	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	Homo sapiens ankyrin repeat domain 10 (ANKRD10), mRNA.	287										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GTCGTGGAGGGGAAGTCCAAA	0.473													A	111532388	G	A	111532388	3	1	34	1	0	0	0	0	1	0	0	0	638	1232	43	3	407	3	ANKRD10	13	111532388	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	82600628	111532388	3637490	62	2068											
TGM5	9333	broad.mit.edu	37	15	43552685	43552685	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr15:43552685G>A	uc001zrd.2	-	1	111	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	TGM5_uc001zre.2_Missense_Mutation_p.R35W	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	35					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCCTGGCCCCGGCGAACAAGC	0.572													A	43552685	G	A	43552685	3	1	34	1	0	0	0	0	1	0	0	0	15830	1115	39	2	2107	2	TGM5	15	43552685	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		43552685	58978707	63	2069											
PML	5371	broad.mit.edu	37	15	74315385	74315385	+	Silent	SNP	C	C	T	rs112627818		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr15:74315385C>T	uc002awv.3	+	2	959	c.819C>T	c.(817-819)gcC>gcT	p.A273A	PML_uc002awj.1_Silent_p.A273A|PML_uc002awm.3_Silent_p.A273A|PML_uc002awl.3_Silent_p.A273A|PML_uc002awk.3_Silent_p.A273A|PML_uc002awn.3_Silent_p.A273A|PML_uc002awo.3_Silent_p.A273A|PML_uc002awp.3_Silent_p.A273A|PML_uc002awq.3_Silent_p.A273A|PML_uc002awr.3_Silent_p.A273A|PML_uc002aws.3_Silent_p.A273A|PML_uc002awt.3_Silent_p.A273A|PML_uc002awu.3_Silent_p.A273A|PML_uc010ule.2_Intron|PML_uc002aww.1_Silent_p.A188A|PML_uc002awx.3_Silent_p.A31A|PML_uc002awy.3_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	273					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.A273A(2)		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						GCGCGCGTGCCGAGACCGAGG	0.716			T	"RARA, PAX5"	"APL, ALL"								T	74315385	C	T	74315385	2	4	34	1	0	0	0	0	0	0	0	1	12135	639	23	2		2	PML	15	74315385	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	30762700	74315385	28216007	64	2070											
ZNF597	146434	broad.mit.edu	37	16	3490932	3490932	+	Missense_Mutation	SNP	C	C	A	rs139189056	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:3490932C>A	uc002cvd.3	-	3	218	c.34_splice	c.e3-1	p.G12_splice	NAA60_uc002cvh.4_5'Flank|NAA60_uc010uxb.1_5'Flank	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGTATTGGTCCCTGAAACAC	0.507													A	3490932	C	A	3490932	3	1	34	1	0	0	0	0	1	0	0	0	18024	869	30	5	1247	5	ZNF597	16	3490932	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		3490932	86863821	65	2071											
ACSM1	116285	broad.mit.edu	37	16	20702408	20702408	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:20702408A>G	uc002dhm.1	-	0	171	c.103T>C	c.(103-105)Ttt>Ctt	p.F35L	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.F35L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	35					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGGGCTCCAAATTCTGATAAA	0.498													G	20702408	A	G	20702408	3	3	34	1	0	0	0	0	1	0	0	0	182	101	4	4	1682	4	ACSM1	16	20702408	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	17211476	20702408	69652345	66	2072											
VWA3A	146177	broad.mit.edu	37	16	22142922	22142922	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:22142922C>T	uc010vbq.2	+	18	1840	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.R590W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	582	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTGAACCTGCGGTGTCGGGG	0.577													T	22142922	C	T	22142922	3	4	34	1	0	0	0	0	1	0	0	0	17237	759	27	1	1818	1	VWA3A	16	22142922	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	1440514	22142922	68211831	67	2073											
CD19	930	broad.mit.edu	37	16	28948983	28948983	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:28948983C>T	uc010byo.2	+	10	1473	c.1411C>T	c.(1411-1413)Ccg>Tcg	p.P471S	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P471S	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	471					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GCTGACCCAGCCGGTCGCCAG	0.577													T	28948983	C	T	28948983	3	4	34	1	0	0	0	0	1	0	0	0	2973	739	26	3	1453	3	CD19	16	28948983	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	6806061	28948983	61405770	68	2074											
MYBBP1A	10514	broad.mit.edu	37	17	4455265	4455265	+	Silent	SNP	C	C	T	rs149464957		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:4455265C>T	uc002fxz.4	-	7	995	c.933G>A	c.(931-933)gcG>gcA	p.A311A	MYBBP1A_uc002fyb.4_Silent_p.A311A	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	311	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCAGGGCCGCGCCCAGCA	0.632													T	4455265	C	T	4455265	2	4	34	1	0	0	0	0	0	0	0	1	10008	639	23	2		2	MYBBP1A	17	4455265	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08		4455265	76739945	69	2075											
DVL2	1856	broad.mit.edu	37	17	7132476	7132476	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:7132476T>C	uc002gez.1	-	7	1217	c.935A>G	c.(934-936)gAg>gGg	p.E312G	DVL2_uc010vtr.1_Missense_Mutation_p.E306G|DVL2_uc010vts.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	312	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTCCCCTGGCTCAATGCGCCC	0.637													C	7132476	T	C	7132476	3	2	34	1	0	0	0	0	1	0	0	0	4836	1551	54	4	1307	4	DVL2	17	7132476	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	2677211	7132476	74062734	70	2076											
DNAH2	146754	broad.mit.edu	37	17	7674216	7674216	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:7674216A>T	uc002giu.1	+	25	4341	c.4327A>T	c.(4327-4329)Att>Ttt	p.I1443F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1443	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATTGAGATGATTCTCACAGT	0.493													T	7674216	A	T	7674216	3	4	34	1	0	0	0	0	1	0	0	0	4602	333	12	5	4429	5	DNAH2	17	7674216	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	541740	7674216	73520994	71	2077											
DNAH9	1770	broad.mit.edu	37	17	11523026	11523026	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:11523026G>T	uc002gne.3	+	5	1346	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	426	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			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)		AGGAAGTCAAGGAATGGGATT	0.502													T	11523026	G	T	11523026	3	4	34	1	0	0	0	0	1	0	0	0	4608	991	35	5	1300	5	DNAH9	17	11523026	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	3848810	11523026	69672184	72	2078											
FOXN1	8456	broad.mit.edu	37	17	26861357	26861357	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:26861357C>T	uc010crm.3	+	6	1134	c.936C>T	c.(934-936)ccC>ccT	p.P312P	FOXN1_uc002hbj.3_Silent_p.P312P	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	312					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGACAGCACCCGATGGCTGGA	0.552													T	26861357	C	T	26861357	2	4	34	1	0	0	0	0	0	0	0	1	6019	639	23	2		2	FOXN1	17	26861357	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	15338331	26861357	54333853	73	2079											
SLFN13	146857	broad.mit.edu	37	17	33768202	33768202	+	Silent	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:33768202C>T	uc002hjk.1	-	3	2436	c.2106G>A	c.(2104-2106)ctG>ctA	p.L702L	SLFN13_uc010wch.1_Silent_p.L702L|SLFN13_uc002hjl.2_Silent_p.L702L|SLFN13_uc002hjm.2_Silent_p.L371L|SLFN13_uc010ctt.2_Silent_p.L384L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	702						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAAAGTAGTCCAGAAAGATCC	0.483													T	33768202	C	T	33768202	2	4	34	1	0	0	0	0	0	0	0	1	14736	581	21	3		3	SLFN13	17	33768202	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	6906845	33768202	47427008	74	2080											
MYOM1	8736	broad.mit.edu	37	18	3067533	3067533	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:3067533G>A	uc002klp.3	-	37	5119	c.4785C>T	c.(4783-4785)aaC>aaT	p.N1595N	MYOM1_uc002klq.3_Silent_p.N1499N	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1595	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			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						CTCCCCACACGTTGCAAGTGA	0.537													A	3067533	G	A	3067533	2	1	34	1	0	0	0	0	0	0	0	1	10091	1136	40	1		1	MYOM1	18	3067533	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08		3067533	75009715	75	2081											
ROCK1	6093	broad.mit.edu	37	18	18533573	18533573	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:18533573G>A	uc002kte.3	-	31	4968	c.4027C>T	c.(4027-4029)Cgg>Tgg	p.R1343W		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1343	Auto-inhibitory.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACCACTTTCCGGAAAGACTGA	0.358													A	18533573	G	A	18533573	3	1	34	1	0	0	0	0	1	0	0	0	13517	1115	39	2	45	2	ROCK1	18	18533573	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	15466040	18533573	59543675	76	2082											
DSC3	1825	broad.mit.edu	37	18	28598687	28598687	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:28598687C>A	uc002kwj.4	-	7	1177	c.1022G>T	c.(1021-1023)tGt>tTt	p.C341F	DSC3_uc002kwi.4_Missense_Mutation_p.C341F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	341	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			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)			TGTTATGATACAAGTTGATGT	0.338													A	28598687	C	A	28598687	3	1	34	1	0	0	0	0	1	0	0	0	4767	478	17	5	1735	5	DSC3	18	28598687	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	10065114	28598687	49478561	77	2083											
NETO1	81832	broad.mit.edu	37	18	70417298	70417298	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:70417298G>A	uc002lkw.3	-	9	1825	c.1541_splice	c.e9+1	p.R514_splice	NETO1_uc002lky.2_Splice_Site_p.R514_splice	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	514					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATACTGACCGCTGGACGGCT	0.433													A	70417298	G	A	70417298	3	1	34	1	0	0	0	0	1	0	0	0	10339	1101	38	1	69	1	NETO1	18	70417298	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	41818611	70417298	7659950	78	2084											
CHAF1A	10036	broad.mit.edu	37	19	4433232	4433232	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:4433232C>T	uc002mal.3	+	12	2469	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	790	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGAGGATGCCGCCATCCCC	0.652								Chromatin Structure					T	4433232	C	T	4433232	3	4	34	1	0	0	0	0	1	0	0	0	3311	739	26	3	2419	3	CHAF1A	19	4433232	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		4433232	54695751	79	2085											
MUC16	94025	broad.mit.edu	37	19	9069201	9069201	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:9069201C>T	uc002mkp.3	-	2	18449	c.18245G>A	c.(18244-18246)aGc>aAc	p.S6082N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6084	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						CAGGGCGGTGCTGTCCTCTTT	0.498													T	9069201	C	T	9069201	3	4	34	1	0	0	0	0	1	0	0	0	9973	797	28	3	25606	3	MUC16	19	9069201	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	4635969	9069201	50059782	80	2086											
CALR	811	broad.mit.edu	37	19	13051173	13051173	+	Silent	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:13051173G>T	uc002mvu.2	+	4	689	c.609G>T	c.(607-609)ctG>ctT	p.L203L		NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	203	4 X approximate repeats.|P-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACTTCCTGCCACCCAAGA	0.532													T	13051173	G	T	13051173	2	4	34	1	0	0	0	0	0	0	0	1	2592	1306	46	5		5	CALR	19	13051173	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	3981972	13051173	46077810	81	2087											
CACNA1A	773	broad.mit.edu	37	19	13340971	13340971	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:13340971C>T	uc002mwy.3	-	35	5689	c.5453G>A	c.(5452-5454)cGa>cAa	p.R1818Q	CACNA1A_uc002mwx.3_Missense_Mutation_p.R524Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1344Q|CACNA1A_uc010xnd.2_Missense_Mutation_p.R1821Q|CACNA1A_uc021ups.1_Missense_Mutation_p.R1818Q|CACNA1A_uc010xne.2_Missense_Mutation_p.R1821Q|CACNA1A_uc010dze.2_Missense_Mutation_p.R1818Q|CACNA1A_uc021upt.1_Missense_Mutation_p.R1819Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.R335Q	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1819					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.L1817V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAGGAGTCTCGGGTGAGGTA	0.597													T	13340971	C	T	13340971	3	4	34	1	0	0	0	0	1	0	0	0	2538	884	31	2	2216	2	CACNA1A	19	13340971	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	289798	13340971	45788012	82	2088											
ZNF681	148213	broad.mit.edu	37	19	23927348	23927348	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:23927348T>C	uc002nrk.4	-	3	1146	c.1004A>G	c.(1003-1005)gAg>gGg	p.E335G	ZNF681_uc002nrl.4_Missense_Mutation_p.E266G|ZNF681_uc002nrj.4_Missense_Mutation_p.E266G	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTAGGGTTTCTCTCCAGTATG	0.393													C	23927348	T	C	23927348	3	2	34	1	0	0	0	0	1	0	0	0	18085	1551	54	4	937	4	ZNF681	19	23927348	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	10586377	23927348	35201635	83	2089											
CAPNS1	826	broad.mit.edu	37	19	36633602	36633602	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:36633602G>T	uc002odi.1	+	3	449	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	CAPNS1_uc002odk.3_Missense_Mutation_p.V98F|CAPNS1_uc002odj.3_Missense_Mutation_p.V98F|CAPNS1_uc002odl.3_Missense_Mutation_p.V98F	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	98	EF-hand 1; atypical.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGTGAGGAGGTCCGGCAGTT	0.622													T	36633602	G	T	36633602	3	4	34	1	0	0	0	0	1	0	0	0	2633	1261	44	5	302	5	CAPNS1	19	36633602	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	12706254	36633602	22495381	84	2090											
CEACAM4	1089	broad.mit.edu	37	19	42132051	42132051	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:42132051G>A	uc010xwd.1	-	1	459	c.348C>T	c.(346-348)gaC>gaT	p.D116D	CEACAM4_uc002orh.1_Silent_p.D116D	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	116	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						AGGATCCTGCGTCCTCCAGGG	0.522													A	42132051	G	A	42132051	2	1	34	1	0	0	0	0	0	0	0	1	3194	1136	40	1		1	CEACAM4	19	42132051	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	5498449	42132051	16996932	85	2091											
ZNF229	7772	broad.mit.edu	37	19	44933285	44933285	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:44933285G>A	uc002oze.1	-	5	2105	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S	ZNF229_uc010ejk.1_Silent_p.S211S|ZNF229_uc010ejl.1_Silent_p.S551S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGAGGTCGGAGCTCCGGC	0.542													A	44933285	G	A	44933285	2	1	34	1	0	0	0	0	0	0	0	1	17779	1103	39	2		2	ZNF229	19	44933285	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	2801234	44933285	14195698	86	2092											
CEACAM20	125931	broad.mit.edu	37	19	45021184	45021184	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:45021184C>T	uc010ejn.1	-	5	1148	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	CEACAM20_uc010ejo.1_Missense_Mutation_p.E378K|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	378	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGCTTGGACTCGGCCCAACAC	0.582													T	45021184	C	T	45021184	3	4	34	1	0	0	0	0	1	0	0	0	3191	893	31	2	687	2	CEACAM20	19	45021184	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	87899	45021184	14107799	87	2093											
LIG1	3978	broad.mit.edu	37	19	48668866	48668866	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:48668866G>A	uc002pia.1	-	1					LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_5'UTR|LIG1_uc010xzg.1_5'UTR|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACTTTTCTTCGTCTGTCAGCT	0.463								Nucleotide excision repair (NER)					A	48668866	G	A	48668866	1	1	34	1	0	0	0	0	0	0	0	0	8781	1160	40	1		1	LIG1	19	48668866	Translation_Start_Site	SNP	G	TCGA-06-0173-01A-01D-1491-08	3647682	48668866	10460117	88	2094											
LILRB5	10990	broad.mit.edu	37	19	54756388	54756388	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:54756388G>T	uc010yer.1	-	9	1583	c.1472C>A	c.(1471-1473)gCt>gAt	p.A491D	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.A500D|LILRB5_uc002qez.3_Missense_Mutation_p.A400D|LILRB5_uc002qex.3_Missense_Mutation_p.A499D|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	499					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.A499V(1)|p.A491V(1)|p.S490T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCGCAGCCCCTGCAGG	0.607													T	54756388	G	T	54756388	3	4	34	1	0	0	0	0	1	0	0	0	8794	971	34	5	292	5	LILRB5	19	54756388	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	6087522	54756388	4372595	89	2095											
LENG8	114823	broad.mit.edu	37	19	54967619	54967619	+	Silent	SNP	C	C	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:54967619C>A	uc002qfv.1	+	8	1453	c.1309C>A	c.(1309-1311)Cga>Aga	p.R437R	LENG8_uc002qfw.2_Silent_p.R474R			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	437							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGATCGGGGCCGAGGCAGGGC	0.682													A	54967619	C	A	54967619	2	1	34	1	0	0	0	0	0	0	0	1	8724	644	23	5		5	LENG8	19	54967619	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	211231	54967619	4161364	90	2096											
LILRB1	10859	broad.mit.edu	37	19	55146733	55146733	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:55146733A>G	uc002qgj.3	+	12	1923	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R	LILRB1_uc010erp.1_Missense_Mutation_p.Q143R|LILRB1_uc002qgl.3_Missense_Mutation_p.Q528R|LILRB1_uc002qgk.3_Missense_Mutation_p.Q529R|LILRB1_uc002qgm.3_Missense_Mutation_p.Q529R|LILRB1_uc010erq.3_Missense_Mutation_p.Q512R|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	528					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		GCCGATGCCCAGGAAGAAAAC	0.612										HNSCC(37;0.09)			G	55146733	A	G	55146733	3	3	34	1	0	0	0	0	1	0	0	0	8790	188	7	4	1628	4	LILRB1	19	55146733	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	179114	55146733	3982250	91	2097											
GALP	85569	broad.mit.edu	37	19	56691958	56691958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:56691958C>T	uc002qmo.1	+	2	173	c.91C>T	c.(91-93)Cga>Tga	p.R31*	GALP_uc010eti.2_Intron	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	31					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TATCCAGGGACGAGGAGGCTG	0.602													T	56691958	C	T	56691958	4	4	34	1	0	0	0	0	0	1	0	0	6226	528	19	1	97	1	GALP	19	56691958	Nonsense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	1545225	56691958	2437025	92	2098											
SDC4	6385	broad.mit.edu	37	20	43977015	43977016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:43977015_43977016insG	uc002xnu.3	-	0	49_50	c.9_10insC	c.(7-12)cccgccfs	p.P3fs	SDC4_uc010zws.2_5'UTR	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	3						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AACAGACGGGCGGGGGCCATGG	0.752			T	ROS1	NSCLC								G	43977016	-	G	43977015	7	5	34	1	0	1	1	0	0	0	0	0	13954	768	27	0	606	0	SDC4	20	43977015	Frame_Shift_Ins	INS	-	TCGA-06-0173-01A-01D-1491-08		43977015	19048505	93	2099											
PARD6B	84612	broad.mit.edu	37	20	49366649	49366649	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:49366649C>T	uc002xvo.3	+	2	986	c.743C>T	c.(742-744)cCg>cTg	p.P248L		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	248	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ACAGTGAGACCGGCAAACCAG	0.443													T	49366649	C	T	49366649	3	4	34	1	0	0	0	0	1	0	0	0	11446	652	23	2	753	2	PARD6B	20	49366649	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	5389634	49366649	13658871	94	2100											
RTEL1	51750	broad.mit.edu	37	20	62316891	62316891	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:62316891G>A	uc021wge.1	+	13	1377	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.D403N|RTEL1_uc011abd.2_Missense_Mutation_p.D427N|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.D180N	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	403					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTTCAGTGTGGACCCCTCCGA	0.627													A	62316891	G	A	62316891	3	1	34	1	0	0	0	0	1	0	0	0	13720	1174	41	3	1261	3	RTEL1	20	62316891	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	12950242	62316891	708629	95	2101											
TXNRD2	10587	broad.mit.edu	37	22	19870868	19870868	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr22:19870868C>T	uc021wlj.1	-	11	1099	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.A355T|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_5'Flank	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	356					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACCAATGGCGTAGATGTGG	0.647													T	19870868	C	T	19870868	3	4	34	1	0	0	0	0	1	0	0	0	16805	768	27	1	532	1	TXNRD2	22	19870868	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		19870868	31433698	96	2102											
NDUFB11	54539	broad.mit.edu	37	X	47001797	47001797	+	Silent	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:47001797T>C	uc004dhc.3	-	2	942	c.411A>G	c.(409-411)aaA>aaG	p.K137K	NDUFB11_uc004dhd.3_Silent_p.K127K|RBM10_uc004dhe.2_5'Flank|RBM10_uc004dhf.3_5'Flank|RBM10_uc004dhi.3_5'Flank|RBM10_uc004dhh.3_5'Flank|RBM10_uc010nhq.3_5'Flank|RBM10_uc004dhg.3_5'Flank	NM_019056	NP_061929	Q9NX14	NDUBB_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa (NDUFB11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CCTCTCGGTATTTCACAAGCC	0.552													C	47001797	T	C	47001797	2	2	34	1	0	0	0	0	0	0	0	1	10280	1490	52	4		4	NDUFB11	23	47001797	Silent	SNP	T	TCGA-06-0173-01A-01D-1491-08		47001797	108268763	97	2103											
GATA1	2623	broad.mit.edu	37	X	48652346	48652346	+	Silent	SNP	G	G	A			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:48652346G>A	uc004dkq.4	+	5	1108	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	339					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGGTGGCTGGGGGCAGCGGTA	0.627			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								A	48652346	G	A	48652346	2	1	34	1	0	0	0	0	0	0	0	1	6253	1219	43	3		3	GATA1	23	48652346	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	1650549	48652346	106618214	98	2104											
YIPF6	286451	broad.mit.edu	37	X	67742719	67742719	+	Silent	SNP	G	G	T			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:67742719G>T	uc004dwz.3	+	5	837	c.552G>T	c.(550-552)cgG>cgT	p.R184R	YIPF6_uc011mph.2_Silent_p.R141R	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	184						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						TCATGGTTCGGCTTTTTGTGG	0.408													T	67742719	G	T	67742719	2	4	34	1	0	0	0	0	0	0	0	1	17479	1190	42	5		5	YIPF6	23	67742719	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	19090373	67742719	87527841	99	2105											
CDX4	1046	broad.mit.edu	37	X	72667262	72667262	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:72667262A>G	uc011mqk.2	+	0	173	c.173A>G	c.(172-174)cAt>cGt	p.H58R		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	58						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGGTATCCTCATATGCCCAGC	0.632													G	72667262	A	G	72667262	3	3	34	1	0	0	0	0	1	0	0	0	3184	217	8	4	175	4	CDX4	23	72667262	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	4924543	72667262	82603298	100	2106											
CPXCR1	53336	broad.mit.edu	37	X	88009244	88009244	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:88009244T>C	uc022bzq.1	+	0	829	c.829T>C	c.(829-831)Ttt>Ctt	p.F277L	CPXCR1_uc004efd.4_Missense_Mutation_p.F277L|CPXCR1_uc004efc.4_Missense_Mutation_p.F277L	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	277						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTGGAAATACTTTTGTCCCAT	0.299													C	88009244	T	C	88009244	3	2	34	1	0	0	0	0	1	0	0	0	3836	1609	56	4	831	4	CPXCR1	23	88009244	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	15341982	88009244	67261316	101	2107											
TNFRSF4	7293	broad.mit.edu	37	1	1149465	1149465	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:1149465C>T	uc001adf.3	-	0					TNFRSF4_uc001ade.3_Missense_Mutation_p.A15T			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.						immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGAGCAGAGCCGCACACGGC	0.692													T	1149465	C	T	1149465	3	4	35	1	0	0	0	0	1	0	0	0	16294	739	26	3	818	3	TNFRSF4	1	1149465	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		1149465	248101156	1	2108											
SLC25A34	284723	broad.mit.edu	37	1	16065774	16065775	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:16065774_16065775insC	uc001axb.1	+	4	960_961	c.788_789insC	c.(787-789)ggcfs	p.G263fs		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	263					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGGAGGGCCCCCTGGCAC	0.649													C	16065775	-	C	16065774	7	5	35	1	0	1	1	0	0	0	0	0	14498	1203	42	0	806	0	SLC25A34	1	16065774	Frame_Shift_Ins	INS	-	TCGA-06-0174-01A-01D-1491-08	14916309	16065774	233184847	2	2109											
C1orf201	90529	broad.mit.edu	37	1	24710467	24710467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:24710467G>T	uc001bjc.3	-	3	383	c.216C>A	c.(214-216)taC>taA	p.Y72*	C1orf201_uc001bjb.3_5'UTR|C1orf201_uc001bja.3_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjd.3_Nonsense_Mutation_p.Y72*|C1orf201_uc001bjf.3_5'UTR	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	72										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		GAATAACATTGTAGAACCCAG	0.438													T	24710467	G	T	24710467	4	4	35	1	0	0	0	0	0	1	0	0	2027	1372	48	5	812	5	C1orf201	1	24710467	Nonsense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	8644693	24710467	224540154	3	2110											
LEPRE1	64175	broad.mit.edu	37	1	43213879	43213879	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:43213879G>A	uc001chx.4	-	11	1943	c.1830C>T	c.(1828-1830)cgC>cgT	p.R610R	LEPRE1_uc001chw.2_Silent_p.R610R|LEPRE1_uc001chv.2_Silent_p.R610R	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	610	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	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-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACCTGTAGTCGCGGAAGGTGT	0.602													A	43213879	G	A	43213879	2	1	35	1	0	0	0	0	0	0	0	1	8729	1074	38	1		1	LEPRE1	1	43213879	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	18503412	43213879	206036742	4	2111											
TOE1	114034	broad.mit.edu	37	1	45808763	45808764	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:45808763_45808764insG	uc009vxq.3	+	7	1505_1506	c.922_923insG	c.(922-924)tggfs	p.W308fs	MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Frame_Shift_Ins_p.W228fs|TOE1_uc001cnr.4_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	308						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GGCTTATGGCTGGTGCCCCCTG	0.569													G	45808764	-	G	45808763	7	5	35	1	0	1	1	0	0	0	0	0	16346	1580	55	0	952	0	TOE1	1	45808763	Frame_Shift_Ins	INS	-	TCGA-06-0174-01A-01D-1491-08	2594884	45808763	203441858	5	2112											
GIPC2	54810	broad.mit.edu	37	1	78560730	78560730	+	Missense_Mutation	SNP	G	G	A	rs143579527		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:78560730G>A	uc001dik.3	+	2	711	c.521G>A	c.(520-522)cGt>cAt	p.R174H	5S_rRNA_uc021oov.1_5'Flank	NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA.	174	PDZ.					cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTTGGGTGGCGTCACTATGAT	0.348													A	78560730	G	A	78560730	3	1	35	1	0	0	0	0	1	0	0	0	6393	1145	40	1	531	1	GIPC2	1	78560730	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	32751967	78560730	170689891	6	2113											
POLR3C	10623	broad.mit.edu	37	1	145594170	145594170	+	Silent	SNP	A	A	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:145594170A>T	uc001eog.3	-	13	1474	c.1431T>A	c.(1429-1431)tcT>tcA	p.S477S	POLR3C_uc001eoh.3_Silent_p.S464S|POLR3C_uc009wix.3_Intron	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	464					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CTACCCTCTGAGATTTTTCTA	0.478													T	145594170	A	T	145594170	2	4	35	1	0	0	0	0	0	0	0	1	12230	291	11	5		5	POLR3C	1	145594170	Silent	SNP	A	TCGA-06-0174-01A-01D-1491-08	67033440	145594170	103656451	7	2114											
VPS72	6944	broad.mit.edu	37	1	151162515	151162515	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:151162515T>C	uc001exe.1	-	0	126	c.83A>G	c.(82-84)gAg>gGg	p.E28G	VPS72_uc001exf.1_Missense_Mutation_p.E28G	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	28	Asp/Glu-rich (acidic).				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	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;0.211)			CTGGTAGAACTCATCTTCCTC	0.612													C	151162515	T	C	151162515	3	2	35	1	0	0	0	0	1	0	0	0	17214	1551	54	4	1035	4	VPS72	1	151162515	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	5568345	151162515	98088106	8	2115											
LRRC52	440699	broad.mit.edu	37	1	165532851	165532851	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:165532851C>A	uc001gde.2	+	1	788	c.732C>A	c.(730-732)gaC>gaA	p.D244E	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	244						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACCACAAAGACTACATCTTCC	0.602													A	165532851	C	A	165532851	3	1	35	1	0	0	0	0	1	0	0	0	9010	564	20	5	738	5	LRRC52	1	165532851	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	14370336	165532851	83717770	9	2116											
SELE	6401	broad.mit.edu	37	1	169698757	169698757	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:169698757T>C	uc001ggm.4	-	5	930	c.773A>G	c.(772-774)aAc>aGc	p.N258S	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	258	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCTTCCAGGGTTTTGGAAACA	0.438													C	169698757	T	C	169698757	3	2	35	1	0	0	0	0	1	0	0	0	14013	1725	60	4	1091	4	SELE	1	169698757	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	4165906	169698757	79551864	10	2117											
XDH	7498	broad.mit.edu	37	2	31595165	31595165	+	Silent	SNP	G	G	A	rs140066757		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:31595165G>A	uc002rnv.1	-	16	1864	c.1785C>T	c.(1783-1785)gaC>gaT	p.D595D		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	595					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAGGAATGTCGTCACAGTACA	0.647													A	31595165	G	A	31595165	2	1	35	1	0	0	0	0	0	0	0	1	17423	1136	40	1		1	XDH	2	31595165	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08		31595165	211604208	11	2118											
STRN	6801	broad.mit.edu	37	2	37121134	37121153	+	Frame_Shift_Del	DEL	CTCGATCTTCACCGCTGTCA	CTCGATCTTCACCGCTGTCA	-			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA	uc002rpn.3	-	6	828_847	c.819_838delTGACAGCGGTGAAGATCGAG	c.(817-840)cctgacagcggtgaagatcgagatfs	p.P273fs	STRN_uc010ezx.3_Frame_Shift_Del_p.P273fs	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	273					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	p.D274E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TCTTTTGTATCTCGATCTTCACCGCTGTCAGGCAATGCTT	0.368													-	37121153	CTCGATCTTCACCGCTGTCA	-	37121134	7	5	35	1	0	1	0	1	0	0	0	0	15328	913	32	0	1552	0	STRN	2	37121134	Frame_Shift_Del	DEL	CTCGATCTTCACCGCTGTCA	TCGA-06-0174-01A-01D-1491-08	5525969	37121134	206078239	12	2119											
SLC9A4	389015	broad.mit.edu	37	2	103149061	103149061	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:103149061G>T	uc002tbz.4	+	11	2768	c.2311G>T	c.(2311-2313)Gtt>Ttt	p.V771F		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	771					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGCCTCTTTGGTTGAGGTTCG	0.537													T	103149061	G	T	103149061	3	4	35	1	0	0	0	0	1	0	0	0	14716	1261	44	5	2357	5	SLC9A4	2	103149061	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	66027927	103149061	140050312	13	2120											
PKP4	8502	broad.mit.edu	37	2	159519424	159519424	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:159519424G>A	uc002tzv.3	+	13	2487	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PKP4_uc002tzt.1_Missense_Mutation_p.V595M|PKP4_uc002tzu.3_Missense_Mutation_p.V743M|PKP4_uc002tzw.3_Missense_Mutation_p.V743M|PKP4_uc002tzx.3_Missense_Mutation_p.V400M|PKP4_uc002tzy.1_Missense_Mutation_p.V401M|PKP4_uc002uaa.3_Missense_Mutation_p.V595M|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	743					cell adhesion	desmosome	protein binding	p.V743M(2)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGAGAACTGCGTGTGCACCCT	0.498										HNSCC(62;0.18)			A	159519424	G	A	159519424	3	1	35	1	0	0	0	0	1	0	0	0	11987	1145	40	1	2277	1	PKP4	2	159519424	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	56370363	159519424	83679949	14	2121											
ASNSD1	54529	broad.mit.edu	37	2	190531945	190531945	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:190531945A>G	uc002uqt.3	+	3	1521	c.1087A>G	c.(1087-1089)Atg>Gtg	p.M363V		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	363	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AGAAAAGACCATGCCAACTAC	0.378													G	190531945	A	G	190531945	3	3	35	1	0	0	0	0	1	0	0	0	1049	217	8	4	1089	4	ASNSD1	2	190531945	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	31012521	190531945	52667428	15	2122											
CNTN4	152330	broad.mit.edu	37	3	2861249	2861249	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:2861249G>A	uc003bpc.3	+	6	777	c.438G>A	c.(436-438)ccG>ccA	p.P146P	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.P146P|CNTN4_uc003bpd.1_Silent_p.P146P	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	146	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTGTGGCCCGCCACCCCATT	0.453													A	2861249	G	A	2861249	2	1	35	1	0	0	0	0	0	0	0	1	3643	1074	38	1		1	CNTN4	3	2861249	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08		2861249	195161181	16	2123											
TRIM71	131405	broad.mit.edu	37	3	32933041	32933041	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:32933041G>A	uc003cff.3	+	3	2408	c.2345G>A	c.(2344-2346)cGc>cAc	p.R782H		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	782					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGTCGGCACGCTTTCTGGGC	0.617													A	32933041	G	A	32933041	3	1	35	1	0	0	0	0	1	0	0	0	16541	1087	38	1	2359	1	TRIM71	3	32933041	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	30071792	32933041	165089389	17	2124											
CNGA1	1259	broad.mit.edu	37	4	47939480	47939480	+	Missense_Mutation	SNP	C	C	T	rs150374036	by1000genomes	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:47939480C>T	uc003gxu.3	-	9	1379	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.R344H	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	344					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTAGCCAAACGGCCAAATTC	0.413													T	47939480	C	T	47939480	3	4	35	1	0	0	0	0	1	0	0	0	3596	536	19	1	1045	1	CNGA1	4	47939480	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		47939480	143214796	18	2125											
PDGFRA	5156	broad.mit.edu	37	4	55133834	55133834	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:55133834G>C	uc003han.4	+	6	1378	c.1047G>C	c.(1045-1047)tgG>tgC	p.W349C	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W243C|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	349	Ig-like C2-type 4.				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.W349C(2)		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)	GGATATCCTGGCTGAAAAACA	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55133834	G	C	55133834	3	2	35	1	0	0	0	0	1	0	0	0	11661	1212	42	5	1069	5	PDGFRA	4	55133834	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	7194354	55133834	136020442	19	2126											
UFSP2	55325	broad.mit.edu	37	4	186334930	186334930	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:186334930T>C	uc003ixo.2	-	6	898	c.781A>G	c.(781-783)Att>Gtt	p.I261V	UFSP2_uc003ixq.2_Missense_Mutation_p.I151V	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	261						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTCTAATGTAACCATCT	0.363													C	186334930	T	C	186334930	3	2	35	1	0	0	0	0	1	0	0	0	16935	1464	51	4	652	4	UFSP2	4	186334930	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	131201096	186334930	4819346	20	2127											
CCT5	22948	broad.mit.edu	37	5	10262653	10262653	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:10262653C>A	uc003jeq.3	+	8	1411	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	CCT5_uc011cmr.2_Missense_Mutation_p.R359S|CCT5_uc011cms.2_Missense_Mutation_p.R376S|CCT5_uc011cmt.2_Missense_Mutation_p.R321S	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	414					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.I413I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GAACCTCATCCGCGATAATCG	0.493													A	10262653	C	A	10262653	3	1	35	1	0	0	0	0	1	0	0	0	2956	652	23	5	1274	5	CCT5	5	10262653	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		10262653	170652607	21	2128											
SNX18	112574	broad.mit.edu	37	5	53815264	53815264	+	Silent	SNP	C	C	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:53815264C>G	uc003jpj.4	+	0	1672	c.1482C>G	c.(1480-1482)gcC>gcG	p.A494A	SNX18_uc011cqg.2_Silent_p.A494A|SNX18_uc003jpi.4_Silent_p.A494A	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	494	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGGCTATCGCCTTCACCGGAG	0.617													G	53815264	C	G	53815264	2	3	35	1	0	0	0	0	0	0	0	1	14889	668	24	5		5	SNX18	5	53815264	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	43552611	53815264	127099996	22	2129											
PCDHAC2	56138	broad.mit.edu	37	5	140250296	140250296	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:140250296G>A	uc003lia.2	+	0	2466	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.A536A	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGATGCGG	0.667													A	140250296	G	A	140250296	2	1	35	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140250296	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	86435032	140250296	40664964	23	2130											
PCDHGC5	56101	broad.mit.edu	37	5	140779096	140779096	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:140779096G>A	uc003lkf.2	+	0	1402	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.A468T	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	474	Cadherin 5.				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)			GGCCTCCATCGCGCAAGTCTG	0.567													A	140779096	G	A	140779096	3	1	35	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140779096	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	528800	140779096	40136164	24	2131											
RANBP17	64901	broad.mit.edu	37	5	170351426	170351426	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:170351426C>T	uc003mba.3	+	11	1482	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	447					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.T447M(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTTGTGCACGGTCAGCAGA	0.413			T	TRD@	ALL								T	170351426	C	T	170351426	3	4	35	1	0	0	0	0	1	0	0	0	13027	536	19	1	1386	1	RANBP17	5	170351426	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	29572330	170351426	10563834	25	2132											
PKHD1	5314	broad.mit.edu	37	6	51890717	51890717	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr6:51890717C>T	uc003pah.1	-	31	4167	c.3891G>A	c.(3889-3891)gcG>gcA	p.A1297A	PKHD1_uc003pai.3_Silent_p.A1297A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1297					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.A1297V(1)|p.A1297T(1)		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)					GTGTTGCTGCCGCTTCATACA	0.547													T	51890717	C	T	51890717	2	4	35	1	0	0	0	0	0	0	0	1	11971	639	23	2		2	PKHD1	6	51890717	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		51890717	119224350	26	2133											
ENPP1	5167	broad.mit.edu	37	6	132203516	132203516	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr6:132203516G>C	uc011ecf.2	+	20	2152	c.2132G>C	c.(2131-2133)tGt>tCt	p.C711S		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	711	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTCTCCAACTGTCTGTACCAG	0.383													C	132203516	G	C	132203516	3	2	35	1	0	0	0	0	1	0	0	0	5129	1377	48	5	2214	5	ENPP1	6	132203516	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	80312799	132203516	38911551	27	2134											
BBS9	27241	broad.mit.edu	37	7	33397475	33397475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:33397475C>T	uc003tdn.1	+	15	2074	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	521			R -> Q (in dbSNP:rs34218557).		fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R521Q(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGGCATTCCGCGAGTTATCCA	0.323									Bardet-Biedl syndrome				T	33397475	C	T	33397475	4	4	35	1	0	0	0	0	0	1	0	0	1342	760	27	1	1619	1	BBS9	7	33397475	Nonsense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		33397475	125741188	28	2135											
AOAH	313	broad.mit.edu	37	7	36571797	36571797	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:36571797C>T	uc022abu.1	-	17	1782	c.1381G>A	c.(1381-1383)Ggc>Agc	p.G461S	AOAH_uc003tfh.4_Missense_Mutation_p.G461S|AOAH_uc011kba.2_Missense_Mutation_p.G429S	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	461					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H460H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GACATCCAGCCGTGGCAGGGG	0.512													T	36571797	C	T	36571797	3	4	35	1	0	0	0	0	1	0	0	0	726	652	23	2	703	2	AOAH	7	36571797	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	3174322	36571797	122566866	29	2136											
EPDR1	54749	broad.mit.edu	37	7	37989842	37989842	+	Silent	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:37989842T>C	uc003tfp.3	+	2	898	c.879T>C	c.(877-879)taT>taC	p.Y293Y	EPDR1_uc003tfq.3_3'UTR|EPDR1_uc010kxh.3_Silent_p.Y112Y	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA.	173					cell-matrix adhesion	extracellular region	calcium ion binding	p.Y293C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGGATTGCTATCCTGTCCAGG	0.388													C	37989842	T	C	37989842	2	2	35	1	0	0	0	0	0	0	0	1	5163	1442	50	4		4	EPDR1	7	37989842	Silent	SNP	T	TCGA-06-0174-01A-01D-1491-08	1418045	37989842	121148821	30	2137											
VSTM2A	222008	broad.mit.edu	37	7	54612435	54612435	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:54612435G>A	uc022adk.1	+	1	605	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	VSTM2A_uc010kzf.3_Missense_Mutation_p.R67Q	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	67	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGGTTCCTGCGGGGGCCGGAG	0.716													A	54612435	G	A	54612435	3	1	35	1	0	0	0	0	1	0	0	0	17226	1116	39	2	206	2	VSTM2A	7	54612435	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	16622593	54612435	104526228	31	2138											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	35	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	620608	55233043	103905620	32	2139											
EGFR	1956	broad.mit.edu	37	7	55233091	55233091	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:55233091G>A	uc003tqk.3	+	14	2087	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	EGFR_uc003tqi.3_Missense_Mutation_p.G614D|EGFR_uc003tqj.3_Missense_Mutation_p.G614D|EGFR_uc022adm.1_Missense_Mutation_p.G614D|EGFR_uc010kzg.2_Missense_Mutation_p.G569D|EGFR_uc022adn.1_Missense_Mutation_p.G569D|EGFR_uc011kco.2_Missense_Mutation_p.G561D|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	614					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCAGACGCCGGCCATGTGTGC	0.537		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55233091	G	A	55233091	3	1	35	1	0	0	0	0	1	0	0	0	4967	1203	42	3	1910	3	EGFR	7	55233091	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	48	55233091	103905572	33	2140											
KIAA1324L	222223	broad.mit.edu	37	7	86548556	86548556	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:86548556G>T	uc011kha.2	-	10	1655	c.1470C>A	c.(1468-1470)aaC>aaA	p.N490K	KIAA1324L_uc003uie.3_Missense_Mutation_p.N323K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.N376K|KIAA1324L_uc003uif.2_Missense_Mutation_p.N242K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	490						integral to membrane		p.L489L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGATATGCAAGTTTAAGATCA	0.373													T	86548556	G	T	86548556	3	4	35	1	0	0	0	0	1	0	0	0	8224	1020	36	5	1667	5	KIAA1324L	7	86548556	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	31315465	86548556	72590107	34	2141											
FAM200A	221786	broad.mit.edu	37	7	99145995	99145995	+	Silent	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:99145995A>C	uc003ura.3	-	1	416	c.36T>G	c.(34-36)tcT>tcG	p.S12S	FAM200A_uc003urb.3_Silent_p.S12S|FAM200A_uc022aia.1_Silent_p.S12S	NM_145111	NP_659802	Q8TCP9	F200A_HUMAN	Homo sapiens family with sequence similarity 200, member A (FAM200A), mRNA.	12						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TACCCCCTGGAGACAAATCTG	0.453													C	99145995	A	C	99145995	2	2	35	1	0	0	0	0	0	0	0	1	5536	291	11	5		5	FAM200A	7	99145995	Silent	SNP	A	TCGA-06-0174-01A-01D-1491-08	12597439	99145995	59992668	35	2142											
FBXO24	26261	broad.mit.edu	37	7	100197689	100197689	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:100197689C>T	uc011kjz.1	+	8	1424	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	FBXO24_uc003uvm.1_Silent_p.C414C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.C402C|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	414						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCTGTGGTGCGGCCTCAACC	0.692													T	100197689	C	T	100197689	2	4	35	1	0	0	0	0	0	0	0	1	5735	776	27	1		1	FBXO24	7	100197689	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	1051694	100197689	58940974	36	2143											
SVOPL	136306	broad.mit.edu	37	7	138314843	138314843	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:138314843G>T	uc011kqh.2	-	8	814	c.814C>A	c.(814-816)Cta>Ata	p.L272I	SVOPL_uc003vue.3_Missense_Mutation_p.L120I	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	272						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCATCCAATAGGTCTGCAAAT	0.393													T	138314843	G	T	138314843	3	4	35	1	0	0	0	0	1	0	0	0	15421	991	35	5	692	5	SVOPL	7	138314843	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	38117154	138314843	20823820	37	2144											
NOS3	4846	broad.mit.edu	37	7	150699051	150699051	+	Missense_Mutation	SNP	C	C	T	rs142781987		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:150699051C>T	uc003wif.3	+	12	1941	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	NOS3_uc011kuy.2_Missense_Mutation_p.R343W|NOS3_uc011kva.2_Missense_Mutation_p.R549W|NOS3_uc011kuz.2_Missense_Mutation_p.R549W|NOS3_uc011kvb.2_Missense_Mutation_p.R549W	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	549	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TTTTGATCCCCGGGTAGGGCT	0.612													T	150699051	C	T	150699051	3	4	35	1	0	0	0	0	1	0	0	0	10544	643	23	2	1691	2	NOS3	7	150699051	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	12384208	150699051	8439612	38	2145											
NEIL2	252969	broad.mit.edu	37	8	11643604	11643604	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:11643604G>A	uc003wug.2	+	4	1496	c.821G>A	c.(820-822)gGc>gAc	p.G274D	NEIL2_uc003wue.2_Missense_Mutation_p.G274D|NEIL2_uc003wuf.2_Missense_Mutation_p.G213D|NEIL2_uc011kxd.1_Missense_Mutation_p.G158D	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	274					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TGGCTGCAGGGCAAGTTCCAA	0.607								Base excision repair (BER), DNA glycosylases					A	11643604	G	A	11643604	3	1	35	1	0	0	0	0	1	0	0	0	10319	1203	42	3	840	3	NEIL2	8	11643604	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		11643604	134720418	39	2146											
DOCK5	80005	broad.mit.edu	37	8	25191663	25191663	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:25191663G>A	uc003xeg.3	+	20	2280	c.2143G>A	c.(2143-2145)Gta>Ata	p.V715I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.V429I|DOCK5_uc003xei.3_Missense_Mutation_p.V285I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	715						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTTTAATCCTGTACTTGAAAC	0.368													A	25191663	G	A	25191663	3	1	35	1	0	0	0	0	1	0	0	0	4690	1377	48	3	2225	3	DOCK5	8	25191663	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	13548059	25191663	121172359	40	2147											
TEX15	56154	broad.mit.edu	37	8	30700748	30700748	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:30700748T>C	uc003xil.3	-	0	5786	c.5786A>G	c.(5785-5787)cAg>cGg	p.Q1929R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1929										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)		ATATATCTTCTGCAACTTAGA	0.358													C	30700748	T	C	30700748	3	2	35	1	0	0	0	0	1	0	0	0	15776	1580	55	4	2599	4	TEX15	8	30700748	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	5509085	30700748	115663274	41	2148											
ST18	9705	broad.mit.edu	37	8	53025895	53025895	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:53025895G>A	uc003xqz.2	-	20	3163	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	ST18_uc011ldq.1_Missense_Mutation_p.P650S|ST18_uc011ldr.1_Missense_Mutation_p.P968S|ST18_uc011lds.1_Missense_Mutation_p.P908S|ST18_uc003xra.2_Missense_Mutation_p.P1003S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	1003						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCACTGATAGGTCCCTAAATG	0.463													A	53025895	G	A	53025895	3	1	35	1	0	0	0	0	1	0	0	0	15211	1261	44	3	140	3	ST18	8	53025895	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	22325147	53025895	93338127	42	2149											
CPA6	57094	broad.mit.edu	37	8	68334862	68334862	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:68334862G>A	uc003xxq.4	-	10	1447	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	CPA6_uc003xxr.4_Silent_p.F153F	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	397					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CACGTAGTTCGAAAGCAAATG	0.383													A	68334862	G	A	68334862	2	1	35	1	0	0	0	0	0	0	0	1	3794	1049	37	2		2	CPA6	8	68334862	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	15308967	68334862	78029160	43	2150											
JPH1	56704	broad.mit.edu	37	8	75171694	75171694	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:75171694G>A	uc003yae.3	-	2	1224	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	JPH1_uc003yaf.3_Missense_Mutation_p.A395V|JPH1_uc003yag.1_Missense_Mutation_p.A259V	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGCGGCCAGCGCGGCCTGGTC	0.597													A	75171694	G	A	75171694	3	1	35	1	0	0	0	0	1	0	0	0	7960	1087	38	1	813	1	JPH1	8	75171694	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	6836832	75171694	71192328	44	2151											
RAD54B	25788	broad.mit.edu	37	8	95412584	95412584	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:95412584C>T	uc003ygk.3	-	6	1183	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	RAD54B_uc010may.2_Missense_Mutation_p.G167D|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACTGGCTTGCCTCCATAGGG	0.433								Direct reversal of damage;Homologous recombination					T	95412584	C	T	95412584	3	4	35	1	0	0	0	0	1	0	0	0	12992	739	26	3	1716	3	RAD54B	8	95412584	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	20240890	95412584	50951438	45	2152											
TRPS1	7227	broad.mit.edu	37	8	116616647	116616647	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:116616647C>G	uc003yny.3	-	3	2127	c.1549G>C	c.(1549-1551)Ggg>Cgg	p.G517R	TRPS1_uc011lhy.2_Missense_Mutation_p.G508R|TRPS1_uc003ynz.3_Missense_Mutation_p.G504R|TRPS1_uc010mcy.3_Missense_Mutation_p.G504R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	504					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			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)			TTTTTAGCCCCACTCGAGCTC	0.438									Langer-Giedion syndrome				G	116616647	C	G	116616647	3	3	35	1	0	0	0	0	1	0	0	0	16590	594	21	5	2351	5	TRPS1	8	116616647	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	21204063	116616647	29747375	46	2153											
DMRTA1	63951	broad.mit.edu	37	9	22447335	22447336	+	Frame_Shift_Ins	INS	-	-	A	rs111465355		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr9:22447335_22447336insA	uc003zpp.1	+	0	496_497	c.271_272insA	c.(271-273)tacfs	p.Y91fs		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	91					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GGGCTGCGGCTACCCGCGGACG	0.762													A	22447336	-	A	22447335	7	5	35	1	0	1	1	0	0	0	0	0	4588	1522	53	0	273	0	DMRTA1	9	22447335	Frame_Shift_Ins	INS	-	TCGA-06-0174-01A-01D-1491-08		22447335	118766096	47	2154											
VAV2	7410	broad.mit.edu	37	9	136653541	136653541	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr9:136653541C>T	uc004ces.3	-	14	1388	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	VAV2_uc004cer.3_Missense_Mutation_p.E443K|VAV2_uc004cet.1_5'UTR	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	448	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCGATGATCTCCTTGAGCTCG	0.592													T	136653541	C	T	136653541	3	4	35	1	0	0	0	0	1	0	0	0	17129	864	30	3	1358	3	VAV2	9	136653541	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	114206206	136653541	4559890	48	2155											
KIAA1217	56243	broad.mit.edu	37	10	24790356	24790356	+	Missense_Mutation	SNP	C	C	T	rs141937477		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:24790356C>T	uc001iru.4	+	8	2286	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	KIAA1217_uc001irs.3_Missense_Mutation_p.T548M|KIAA1217_uc001irt.4_Missense_Mutation_p.T593M|KIAA1217_uc010qcy.2_Missense_Mutation_p.T593M|KIAA1217_uc010qcz.2_Missense_Mutation_p.T593M|KIAA1217_uc001irv.1_Missense_Mutation_p.T443M|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.T311M|KIAA1217_uc001irz.3_Missense_Mutation_p.T311M|KIAA1217_uc001irx.3_Missense_Mutation_p.T311M|KIAA1217_uc001iry.3_Missense_Mutation_p.T311M	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	628					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						CTGGAGTCCACGGTGCCTCCC	0.582													T	24790356	C	T	24790356	3	4	35	1	0	0	0	0	1	0	0	0	8216	536	19	1	1917	1	KIAA1217	10	24790356	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		24790356	110744391	49	2156											
ARMC4	55130	broad.mit.edu	37	10	28229528	28229528	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:28229528A>C	uc009xky.3	-	12	2048	c.1950T>G	c.(1948-1950)atT>atG	p.I650M	ARMC4_uc010qds.2_Missense_Mutation_p.I175M|ARMC4_uc010qdt.2_Missense_Mutation_p.I342M|ARMC4_uc001itz.3_Missense_Mutation_p.I650M|ARMC4_uc010qdu.1_Missense_Mutation_p.I342M	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	650							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCACCACTGGAATTAGCATGT	0.473													C	28229528	A	C	28229528	3	2	35	1	0	0	0	0	1	0	0	0	953	242	9	5	1216	5	ARMC4	10	28229528	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	3439172	28229528	107305219	50	2157											
OR13A1	79290	broad.mit.edu	37	10	45799324	45799324	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:45799324G>A	uc001jcc.1	-	3	856	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	OR13A1_uc001jcd.1_Missense_Mutation_p.R179C|OR13A1_uc021ppq.1_Missense_Mutation_p.R183C	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAATCCAAGCGCAGCATCAGC	0.587													A	45799324	G	A	45799324	3	1	35	1	0	0	0	0	1	0	0	0	10933	1087	38	1	443	1	OR13A1	10	45799324	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	17569796	45799324	89735423	51	2158											
DNTT	1791	broad.mit.edu	37	10	98079146	98079146	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:98079146C>T	uc001kmf.3	+	3	677	c.507_splice	c.e3+1	p.T169_splice	DNTT_uc001kmg.3_Splice_Site_p.T169_splice	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	169	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGATATTCACGGTAACGGGA	0.448													T	98079146	C	T	98079146	3	4	35	1	0	0	0	0	1	0	0	0	4680	550	19	1	516	1	DNTT	10	98079146	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	52279822	98079146	37455601	52	2159											
PAX2	5076	broad.mit.edu	37	10	102510548	102510548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:102510548C>T	uc001krk.4	+	2	860	c.310C>T	c.(310-312)Cga>Tga	p.R104*	PAX2_uc001krm.4_Nonsense_Mutation_p.R104*|PAX2_uc001krn.4_Nonsense_Mutation_p.R104*|PAX2_uc001kro.4_Nonsense_Mutation_p.R104*|PAX2_uc010qps.2_Nonsense_Mutation_p.R103*|PAX2_uc001krl.4_Nonsense_Mutation_p.R104*|PAX2_uc001krp.1_Nonsense_Mutation_p.R108*	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	104	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAATACAAACGACAGAACCC	0.572													T	102510548	C	T	102510548	4	4	35	1	0	0	0	0	0	1	0	0	11479	528	19	1	320	1	PAX2	10	102510548	Nonsense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	4431402	102510548	33024199	53	2160											
OR4C6	219432	broad.mit.edu	37	11	55433358	55433358	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:55433358G>T	uc010rik.2	+	0	716	c.716G>T	c.(715-717)aGc>aTc	p.S239I		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTACCTGCAGCTCCCACCTC	0.502													T	55433358	G	T	55433358	3	4	35	1	0	0	0	0	1	0	0	0	11052	971	34	5	718	5	OR4C6	11	55433358	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		55433358	79573158	54	2161											
CD4	920	broad.mit.edu	37	12	6923329	6923329	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:6923329G>A	uc001qqv.2	+	3	494	c.236G>A	c.(235-237)cGc>cAc	p.R79H	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Missense_Mutation_p.R24H|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	79	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTGAATGATCGCGCTGACTCA	0.522													A	6923329	G	A	6923329	3	1	35	1	0	0	0	0	1	0	0	0	3014	1087	38	1	246	1	CD4	12	6923329	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		6923329	126928566	55	2162											
PHC1	1911	broad.mit.edu	37	12	9087006	9087006	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:9087006G>A	uc001qvd.3	+	9	2341	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	PHC1_uc001qve.3_Missense_Mutation_p.V729M	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	729					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACAGGCCATCGTGAAGCCCCA	0.542													A	9087006	G	A	9087006	3	1	35	1	0	0	0	0	1	0	0	0	11816	1145	40	1	2219	1	PHC1	12	9087006	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	2163677	9087006	124764889	56	2163											
BICD1	636	broad.mit.edu	37	12	32491868	32491868	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:32491868G>C	uc001rku.3	+	7	2800	c.2719G>C	c.(2719-2721)Ggg>Cgg	p.G907R	BICD1_uc001rkv.3_Intron|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	907					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATTCATCCAAGGGCACCGGCT	0.463													C	32491868	G	C	32491868	3	2	35	1	0	0	0	0	1	0	0	0	1428	1000	35	5	2749	5	BICD1	12	32491868	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	23404862	32491868	101360027	57	2164											
BCDIN3D	144233	broad.mit.edu	37	12	50232500	50232500	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:50232500C>T	uc001rvh.3	-	1	575	c.533G>A	c.(532-534)gGc>gAc	p.G178D	LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN	Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA.	178	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CTCCCATAGGCCATGGTCTCC	0.512											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50232500	C	T	50232500	3	4	35	1	0	0	0	0	1	0	0	0	1357	739	26	3	349	3	BCDIN3D	12	50232500	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	17740632	50232500	83619395	58	2165											
ATF7	11016	broad.mit.edu	37	12	53928392	53928392	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:53928392G>A	uc001sdy.3	-	4	508	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.R152C|ATF7_uc010sol.2_Missense_Mutation_p.R131C	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	163	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GAGCCAGGACGTACAATGGTG	0.512													A	53928392	G	A	53928392	3	1	35	1	0	0	0	0	1	0	0	0	1086	1145	40	1	1025	1	ATF7	12	53928392	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	3695892	53928392	79923503	59	2166											
AVIL	10677	broad.mit.edu	37	12	58207190	58207190	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:58207190C>T	uc001sqj.2	-	2	187	c.158G>A	c.(157-159)aGt>aAt	p.S53N	AVIL_uc009zqe.2_Missense_Mutation_p.S46N|AVIL_uc001sql.4_Missense_Mutation_p.S30N	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	53	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATAGGAGACTGGCCACTCT	0.582													T	58207190	C	T	58207190	3	4	35	1	0	0	0	0	1	0	0	0	1227	565	20	3	2369	3	AVIL	12	58207190	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	4278798	58207190	75644705	60	2167											
CPSF6	11052	broad.mit.edu	37	12	69653833	69653833	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:69653833G>T	uc001sut.4	+	7	1435	c.1325G>T	c.(1324-1326)gGg>gTg	p.G442V	CPSF6_uc001suu.4_Missense_Mutation_p.G479V|CPSF6_uc010stk.2_Missense_Mutation_p.G73V	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	442					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGTGATTATGGGAGTGCTATT	0.353													T	69653833	G	T	69653833	3	4	35	1	0	0	0	0	1	0	0	0	3829	1232	43	5	1355	5	CPSF6	12	69653833	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	11446643	69653833	64198062	61	2168											
NOS1	4842	broad.mit.edu	37	12	117718572	117718572	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:117718572G>A	uc001twn.2	-	7	2193	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_uc021ren.1_Silent_p.D158D|NOS1_uc021reo.1_Silent_p.D158D|NOS1_uc001twm.2_Silent_p.D494D	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	494					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D494D(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTGGAGCCGTCAGGCTGCT	0.617													A	117718572	G	A	117718572	2	1	35	1	0	0	0	0	0	0	0	1	10541	1136	40	1		1	NOS1	12	117718572	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	48064739	117718572	16133323	62	2169											
TMEM132B	114795	broad.mit.edu	37	12	126004117	126004117	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:126004117C>T	uc001uhe.1	+	3	1232	c.1224C>T	c.(1222-1224)gtC>gtT	p.V408V	TMEM132B_uc021rgl.1_Silent_p.V298V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	408						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCTGGTCGTCTCCGAGATCT	0.532													T	126004117	C	T	126004117	2	4	35	1	0	0	0	0	0	0	0	1	16043	900	32	3		3	TMEM132B	12	126004117	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	8285545	126004117	7847778	63	2170											
GLT1D1	144423	broad.mit.edu	37	12	129360558	129360558	+	Silent	SNP	C	C	T	rs144231014		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:129360558C>T	uc010tbh.1	+	1	144	c.135C>T	c.(133-135)tgC>tgT	p.C45C	GLT1D1_uc001uhx.1_Silent_p.C56C|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	56					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTGAGAACTGCGAGGCTGCCC	0.483													T	129360558	C	T	129360558	2	4	35	1	0	0	0	0	0	0	0	1	6465	776	27	1		1	GLT1D1	12	129360558	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	3356441	129360558	4491337	64	2171											
ZMYM5	9205	broad.mit.edu	37	13	20409775	20409775	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:20409775A>G	uc010tcn.1	-	6	1358	c.1093T>C	c.(1093-1095)Tgc>Cgc	p.C365R	ZMYM5_uc001umm.1_Missense_Mutation_p.C189R	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	365						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTATTAAAGCAATGGTTACTG	0.363													G	20409775	A	G	20409775	3	3	35	1	0	0	0	0	1	0	0	0	17700	130	5	4	924	4	ZMYM5	13	20409775	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08		20409775	94760103	65	2172											
NBEA	26960	broad.mit.edu	37	13	35730325	35730325	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:35730325A>C	uc021rid.1	+	19	3167	c.2633A>C	c.(2632-2634)aAc>aCc	p.N878T	NBEA_uc021ric.1_Missense_Mutation_p.N878T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	878						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTTCAGTAACAGCCGTGAA	0.313													C	35730325	A	C	35730325	3	2	35	1	0	0	0	0	1	0	0	0	10187	43	2	5	2711	5	NBEA	13	35730325	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	15320550	35730325	79439553	66	2173											
SCEL	8796	broad.mit.edu	37	13	78176839	78176839	+	Missense_Mutation	SNP	C	C	T	rs144213801		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:78176839C>T	uc001vki.3	+	16	1198	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	SCEL_uc010thx.2_Missense_Mutation_p.T321M|SCEL_uc001vkj.3_Missense_Mutation_p.T323M	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	343	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATGAATAAAACGAGCAGAAGG	0.348													T	78176839	C	T	78176839	3	4	35	1	0	0	0	0	1	0	0	0	13888	536	19	1	1090	1	SCEL	13	78176839	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	42446514	78176839	36993039	67	2174											
HECTD1	25831	broad.mit.edu	37	14	31582555	31582555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:31582555delC	uc001wrc.1	-	32	6481	c.5992delG	c.(5992-5994)gaafs	p.E1998fs	HECTD1_uc001wra.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrb.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrd.1_Frame_Shift_Del_p.E1466fs	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1998					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGGACATCTTCTACTCCACAA	0.403													-	31582555	C	-	31582555	7	5	35	1	0	1	0	1	0	0	0	0	7039	922	32	0	1884	0	HECTD1	14	31582555	Frame_Shift_Del	DEL	C	TCGA-06-0174-01A-01D-1491-08		31582555	75766985	68	2175											
RPL10L	140801	broad.mit.edu	37	14	47120929	47120929	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:47120929C>T	uc001wwg.3	-	0	100	c.11G>A	c.(10-12)cGt>cAt	p.R4H		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	4					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.R4S(2)|p.R3R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GCGAGCTGGACGGCGCCCCAT	0.557													T	47120929	C	T	47120929	3	4	35	1	0	0	0	0	1	0	0	0	13556	536	19	1	637	1	RPL10L	14	47120929	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	15538374	47120929	60228611	69	2176											
ACYP1	97	broad.mit.edu	37	14	75520272	75520272	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:75520272C>T	uc001xrg.3	-	2	263	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.3_3'UTR	NM_001107	NP_001098	P07311	ACYP1_HUMAN	Homo sapiens acylphosphatase 1, erythrocyte (common) type (ACYP1), transcript variant 1, mRNA.	59	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		ATATGACGCACCTTGGAGATG	0.478													T	75520272	C	T	75520272	3	4	35	1	0	0	0	0	1	0	0	0	228	507	18	3	128	3	ACYP1	14	75520272	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	28399343	75520272	31829268	70	2177											
AHNAK2	113146	broad.mit.edu	37	14	105412495	105412495	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:105412495G>A	uc010axc.1	-	6	9413	c.9293C>T	c.(9292-9294)aCg>aTg	p.T3098M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3098						nucleus				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)			GTCGGGGGCCGTCACGTCCGT	0.627													A	105412495	G	A	105412495	3	1	35	1	0	0	0	0	1	0	0	0	415	1145	40	1	8098	1	AHNAK2	14	105412495	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	29892223	105412495	1937045	71	2178											
MAPKBP1	23005	broad.mit.edu	37	15	42111153	42111153	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:42111153C>T	uc001zok.4	+	20	2593	c.2307C>T	c.(2305-2307)aaC>aaT	p.N769N	MAPKBP1_uc010bci.3_Silent_p.N763N|MAPKBP1_uc010udb.2_Silent_p.N602N|MAPKBP1_uc001zoj.4_Silent_p.N763N|MAPKBP1_uc010bcj.3_Silent_p.N270N|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Silent_p.N270N	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	769								p.N763N(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGGACCCAACCGGTGAGAAC	0.607													T	42111153	C	T	42111153	2	4	35	1	0	0	0	0	0	0	0	1	9292	506	18	3		3	MAPKBP1	15	42111153	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		42111153	60420239	72	2179											
ZSCAN29	146050	broad.mit.edu	37	15	43653907	43653907	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:43653907T>G	uc001zrk.1	-	4	2070	c.1923A>C	c.(1921-1923)caA>caC	p.Q641H	ZSCAN29_uc001zrj.1_Missense_Mutation_p.Q521H|ZSCAN29_uc010bdg.1_Missense_Mutation_p.Q251H|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	641					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		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;8.97e-07)		AAGGTCTCTGTTGACTTAGGA	0.473													G	43653907	T	G	43653907	3	3	35	1	0	0	0	0	1	0	0	0	18233	1722	60	5	639	5	ZSCAN29	15	43653907	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	1542754	43653907	58877485	73	2180											
SSTR5	6755	broad.mit.edu	37	16	1129417	1129417	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:1129417C>T	uc021taf.1	+	1	620	c.549C>T	c.(547-549)ggC>ggT	p.G183G	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.G183G	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	183					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGCAGGAGGGCGGTACCTGCA	0.716													T	1129417	C	T	1129417	2	4	35	1	0	0	0	0	0	0	0	1	15200	755	27	1		1	SSTR5	16	1129417	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		1129417	89225336	74	2181											
TMC5	79838	broad.mit.edu	37	16	19451842	19451842	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:19451842C>T	uc002dgc.4	+	2	1231	c.482C>T	c.(481-483)cCg>cTg	p.P161L	TMC5_uc010vaq.2_Missense_Mutation_p.P161L|TMC5_uc002dgb.4_Missense_Mutation_p.P161L|TMC5_uc010var.2_Missense_Mutation_p.P161L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	161						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTTAGAACCGGACTACCCT	0.478													T	19451842	C	T	19451842	3	4	35	1	0	0	0	0	1	0	0	0	15985	652	23	2	484	2	TMC5	16	19451842	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	18322425	19451842	70902911	75	2182											
OTOA	146183	broad.mit.edu	37	16	21689852	21689852	+	Missense_Mutation	SNP	C	C	T	rs144912852		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:21689852C>T	uc002djh.3	+	0	18	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LOC23117_uc021tel.1_Intron	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	6					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGGAACCTACGACATACTCC	0.373													T	21689852	C	T	21689852	3	4	35	1	0	0	0	0	1	0	0	0	11302	536	19	1	19	1	OTOA	16	21689852	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	2238010	21689852	68664901	76	2183											
GTF3C1	2975	broad.mit.edu	37	16	27518426	27518426	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:27518426C>T	uc002dov.2	-	8	1334	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	GTF3C1_uc002dou.3_Missense_Mutation_p.V432M	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	432						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTGCAAACACGCAGGAAATG	0.552													T	27518426	C	T	27518426	3	4	35	1	0	0	0	0	1	0	0	0	6872	536	19	1	5151	1	GTF3C1	16	27518426	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	5828574	27518426	62836327	77	2184											
MFSD6L	162387	broad.mit.edu	37	17	8701786	8701786	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:8701786C>A	uc002glp.2	-	0	882	c.653G>T	c.(652-654)gGg>gTg	p.G218V		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	218						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ATTCCCGGGCCCTTTCCCCCC	0.577													A	8701786	C	A	8701786	3	1	35	1	0	0	0	0	1	0	0	0	9536	623	22	5	1111	5	MFSD6L	17	8701786	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		8701786	72493424	78	2185											
UNC45B	146862	broad.mit.edu	37	17	33504108	33504108	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:33504108G>A	uc002hja.3	+	15	2201	c.2104G>A	c.(2104-2106)Gct>Act	p.A702T	UNC45B_uc002hjb.3_Missense_Mutation_p.A700T|UNC45B_uc002hjc.3_Missense_Mutation_p.A700T|UNC45B_uc010cto.3_Missense_Mutation_p.A621T	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	702					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGCAAAGATCGCTGCTGTCTC	0.572													A	33504108	G	A	33504108	3	1	35	1	0	0	0	0	1	0	0	0	16986	1087	38	1	2162	1	UNC45B	17	33504108	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	24802322	33504108	47691102	79	2186											
SCN4A	6329	broad.mit.edu	37	17	62025418	62025418	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:62025418G>A	uc002jds.1	-	16	3227	c.3150C>T	c.(3148-3150)ttC>ttT	p.F1050F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1050					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	AGATGTCCTCGAAGGCCTGGG	0.602													A	62025418	G	A	62025418	2	1	35	1	0	0	0	0	0	0	0	1	13920	1049	37	2		2	SCN4A	17	62025418	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	28521310	62025418	19169792	80	2187											
AZI1	22994	broad.mit.edu	37	17	79170626	79170626	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:79170626C>T	uc002jzp.1	-	15	1983	c.1783_splice	c.e15-1	p.A595_splice	AZI1_uc002jzm.1_Splice_Site_p.A22_splice|AZI1_uc002jzn.1_Splice_Site_p.A592_splice|AZI1_uc002jzo.1_Splice_Site_p.A592_splice|AZI1_uc010wum.1_Splice_Site_p.A595_splice|AZI1_uc002jzq.3_5'Flank	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	595					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGCTGCTGCGCCTGCAGGGTG	0.687													T	79170626	C	T	79170626	3	4	35	1	0	0	0	0	1	0	0	0	1240	753	26	3	1516	3	AZI1	17	79170626	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	17145208	79170626	2024584	81	2188											
FBN3	84467	broad.mit.edu	37	19	8162272	8162272	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:8162272C>T	uc002mjf.3	-	40	5205	c.5188G>A	c.(5188-5190)Gcc>Acc	p.A1730T		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1730	EGF-like 26; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACAGATGGCGGGGATCTCC	0.597													T	8162272	C	T	8162272	3	4	35	1	0	0	0	0	1	0	0	0	5704	768	27	1	3333	1	FBN3	19	8162272	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		8162272	50966711	82	2189											
UNC13A	23025	broad.mit.edu	37	19	17769035	17769035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:17769035G>T	uc021uqk.1	-	8	645	c.603C>A	c.(601-603)taC>taA	p.Y201*		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	201					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Y289*(1)|p.Y201*(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTTCACTGCGGTAGTCACTGT	0.562													T	17769035	G	T	17769035	4	4	35	1	0	0	0	0	0	1	0	0	16981	1256	44	5	4644	5	UNC13A	19	17769035	Nonsense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	9606763	17769035	41359948	83	2190											
MAG	4099	broad.mit.edu	37	19	35793483	35793483	+	Missense_Mutation	SNP	C	C	T	rs144554089		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:35793483C>T	uc002nyy.2	+	6	1301	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	MAG_uc002nyx.2_Missense_Mutation_p.T368M|MAG_uc010eds.2_Missense_Mutation_p.T343M|MAG_uc002nyz.2_Missense_Mutation_p.T368M	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	368	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.T368M(2)|p.T368T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCCTGTCCACGGTCATCTAC	0.582													T	35793483	C	T	35793483	3	4	35	1	0	0	0	0	1	0	0	0	9162	536	19	1	1121	1	MAG	19	35793483	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	18024448	35793483	23335500	84	2191											
RYR1	6261	broad.mit.edu	37	19	38958338	38958338	+	Silent	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:38958338C>T	uc002oit.3	+	24	3397	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	RYR1_uc002oiu.3_Silent_p.F1089F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1089	6 X approximate repeats.|B30.2/SPRY 2.				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			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)	GCTGGTACTTCGAGTTTGAAG	0.592													T	38958338	C	T	38958338	2	4	35	1	0	0	0	0	0	0	0	1	13768	883	31	2		2	RYR1	19	38958338	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	3164855	38958338	20170645	85	2192											
CYP2S1	29785	broad.mit.edu	37	19	41700569	41700569	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:41700569G>A	uc002opw.3	+	1	353	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	CYP2S1_uc010xvx.2_5'UTR	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	100					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	p.G100S(2)|p.S99G(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGAGTTCAGCGGCCGGGGAAC	0.637													A	41700569	G	A	41700569	3	1	35	1	0	0	0	0	1	0	0	0	4174	1116	39	2	304	2	CYP2S1	19	41700569	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	2742231	41700569	17428414	86	2193											
SCAF1	58506	broad.mit.edu	37	19	50157645	50157645	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:50157645C>T	uc002poq.3	+	7	3480	c.3356C>T	c.(3355-3357)gCg>gTg	p.A1119V		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1119					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCCAACCTGGCGAGCCGAGCG	0.607													T	50157645	C	T	50157645	3	4	35	1	0	0	0	0	1	0	0	0	13868	768	27	1	3382	1	SCAF1	19	50157645	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	8457076	50157645	8971338	87	2194											
NLRP13	126204	broad.mit.edu	37	19	56424553	56424553	+	Silent	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:56424553G>A	uc010ygg.2	-	4	655	c.630C>T	c.(628-630)gaC>gaT	p.D210D		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	210							ATP binding			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)		CCTCATGTTCGTCCTTTGATG	0.498													A	56424553	G	A	56424553	2	1	35	1	0	0	0	0	0	0	0	1	10475	1136	40	1		1	NLRP13	19	56424553	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	6266908	56424553	2704430	88	2195											
ZSWIM3	140831	broad.mit.edu	37	20	44506102	44506102	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr20:44506102G>A	uc002xqd.3	+	1	1150	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ZSWIM3_uc010zxg.2_Missense_Mutation_p.R296H	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	302							zinc ion binding	p.A301A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CCTGCTGCCCGCATCCTCCTT	0.502													A	44506102	G	A	44506102	3	1	35	1	0	0	0	0	1	0	0	0	18239	1087	38	1	911	1	ZSWIM3	20	44506102	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		44506102	18519418	89	2196											
KRTAP15-1	254950	broad.mit.edu	37	21	31812738	31812738	+	Silent	SNP	C	C	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr21:31812738C>A	uc002yod.3	+	0	93	c.93C>A	c.(91-93)ccC>ccA	p.P31P		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	31						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTTCTACCCCAGCAATGCCA	0.478													A	31812738	C	A	31812738	2	1	35	1	0	0	0	0	0	0	0	1	8526	581	21	5		5	KRTAP15-1	21	31812738	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		31812738	16317157	90	2197											
DERL3	91319	broad.mit.edu	37	22	24179323	24179323	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:24179323A>G	uc002zyk.4	-	5	567	c.542T>C	c.(541-543)aTc>aCc	p.I181T	DERL3_uc002zyh.3_Missense_Mutation_p.I181T|DERL3_uc002zyi.3_Missense_Mutation_p.I181T|DERL3_uc002zyj.3_Silent_p.Y137Y|DERL3_uc021wmv.1_5'Flank	NM_001135751	NP_001129223	Q96Q80	DERL3_HUMAN	Homo sapiens Der1-like domain family, member 3 (DERL3), transcript variant 1, mRNA.	181					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						GAAGTAGTAGATATGGCCCAC	0.632													G	24179323	A	G	24179323	3	3	35	1	0	0	0	0	1	0	0	0	4448	333	12	4	287	4	DERL3	22	24179323	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08		24179323	27125243	91	2198											
SYN3	8224	broad.mit.edu	37	22	32909719	32909719	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:32909719C>T	uc003amx.3	-	12	1865	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H	SYN3_uc003amy.3_3'UTR|SYN3_uc003amz.3_Missense_Mutation_p.R567H	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	568	E.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.R568H(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTCAGGTTGCGGATGGTTTC	0.572													T	32909719	C	T	32909719	3	4	35	1	0	0	0	0	1	0	0	0	15439	768	27	1	43	1	SYN3	22	32909719	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	8730396	32909719	18394847	92	2199											
NAGA	4668	broad.mit.edu	37	22	42458918	42458918	+	Silent	SNP	G	G	A	rs144984228		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:42458918G>A	uc003bbw.4	-	6	1415	c.870C>T	c.(868-870)tcC>tcT	p.S290S		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	290					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGTTCTGGGCGGAGATGGTAC	0.557													A	42458918	G	A	42458918	2	1	35	1	0	0	0	0	0	0	0	1	10141	1103	39	2		2	NAGA	22	42458918	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	9549199	42458918	8845648	93	2200											
AMELX	265	broad.mit.edu	37	X	11316747	11316747	+	Missense_Mutation	SNP	C	C	T	rs148259441		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:11316747C>T	uc004cus.3	+	5	334	c.266C>T	c.(265-267)cCg>cTg	p.P89L	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.P75L|AMELX_uc004cuu.3_Missense_Mutation_p.P59L	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	75					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.P89T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGCACCCCCCGACTCACACC	0.602													T	11316747	C	T	11316747	3	4	35	1	0	0	0	0	1	0	0	0	569	652	23	2	284	2	AMELX	23	11316747	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		11316747	143953813	94	2201											
ZCCHC16	340595	broad.mit.edu	37	X	111698312	111698312	+	Missense_Mutation	SNP	G	G	C	rs149089921		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:111698312G>C	uc022cct.1	+	0	356	c.356G>C	c.(355-357)aGt>aCt	p.S119T	ZCCHC16_uc004epo.1_Missense_Mutation_p.S119T	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	119							nucleic acid binding|zinc ion binding	p.S119T(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTGACAAGAGTACCTTACTG	0.383													C	111698312	G	C	111698312	3	2	35	1	0	0	0	0	1	0	0	0	17581	1029	36	5	358	5	ZCCHC16	23	111698312	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	100381565	111698312	43572248	95	2202											
DCAF12L2	340578	broad.mit.edu	37	X	125299765	125299765	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:125299765C>T	uc004euk.2	-	0	316	c.143G>A	c.(142-144)cGt>cAt	p.R48H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	48										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGCCTGCGACGCGTCGCCGG	0.731													T	125299765	C	T	125299765	3	4	35	1	0	0	0	0	1	0	0	0	4265	536	19	1	1252	1	DCAF12L2	23	125299765	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	13601453	125299765	29970795	96	2203											
AFF2	2334	broad.mit.edu	37	X	147967460	147967460	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:147967460A>G	uc004fcp.3	+	7	1783	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	AFF2_uc004fco.3_Missense_Mutation_p.D396G|AFF2_uc004fcq.3_Missense_Mutation_p.D425G|AFF2_uc004fcr.3_Missense_Mutation_p.D396G|AFF2_uc011mxb.2_Missense_Mutation_p.D400G|AFF2_uc004fcs.3_Missense_Mutation_p.D402G|AFF2_uc011mxc.2_Missense_Mutation_p.D76G	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	435					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GATGAAGATGACCTTGAGCCT	0.483													G	147967460	A	G	147967460	3	3	35	1	0	0	0	0	1	0	0	0	357	275	10	4	1389	4	AFF2	23	147967460	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	22667695	147967460	7303100	97	2204											
TGIF2LY	90655	broad.mit.edu	37	Y	3447632	3447632	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrY:3447632G>A	uc004fqk.3	+	1	411	c.347G>A	c.(346-348)cGt>cAt	p.R116H	TGIF2LY_uc022ciw.1_Missense_Mutation_p.R116H	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						CTTCAACAGCGTAGAAACGAC	0.527													A	3447632	G	A	3447632	3	1	35	1	0	0	0	0	1	0	0	0	15825	1145	40	1	349	1	TGIF2LY	24	3447632	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		3447632	55925934	98	2205											
SFT2D1	113402	broad.mit.edu	37	6	166739646	166739646	+	Missense_Mutation	SNP	T	T	C	rs11551053	byFrequency	TCGA-06-0178-01A-01D-1491-08	TCGA-06-0178-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4fa779b-d116-4696-b170-60f3e215e9fb	c9f63961-b124-468a-bff1-62c1aedd1805	g.chr6:166739646T>C	uc003qux.3	-	4	347	c.325A>G	c.(325-327)Ata>Gta	p.I109V		NM_145169	NP_660152	Q8WV19	SFT2A_HUMAN	Homo sapiens SFT2 domain containing 1 (SFT2D1), mRNA.	109			I -> V (in dbSNP:rs11551053).		protein transport|vesicle-mediated transport	integral to membrane		p.I109V(2)		NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		AGGGTAAATATGAAACACAAC	0.413													C	166739646	T	C	166739646	3	2	36	1	0	0	0	0	1	0	0	0	14185	1464	51	4	170	4	SFT2D1	6	166739646	Missense_Mutation	SNP	T	TCGA-06-0178-01A-01D-1491-08		166739646	4375421	1	2206											
MYO1D	4642	broad.mit.edu	37	17	31203857	31203857	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0178-01A-01D-1491-08	TCGA-06-0178-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4fa779b-d116-4696-b170-60f3e215e9fb	c9f63961-b124-468a-bff1-62c1aedd1805	g.chr17:31203857delC	uc002hho.1	-	0	46	c.34delG	c.(34-36)gcafs	p.A12fs	MYO1D_uc002hhp.1_Frame_Shift_Del_p.A12fs|MYO1D_uc010wcb.2_Frame_Shift_Del_p.A12fs	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	12	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACGAAGTCTGCCTTGCCGAAT	0.726													-	31203857	C	-	31203857	7	5	36	1	0	1	0	1	0	0	0	0	10071	739	26	0	3074	0	MYO1D	17	31203857	Frame_Shift_Del	DEL	C	TCGA-06-0178-01A-01D-1491-08		31203857	49991353	2	2207											
SPSB1	80176	broad.mit.edu	37	1	9416221	9416221	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:9416221G>A	uc010oae.2	+	1	610	c.271G>A	c.(271-273)Gtc>Atc	p.V91I	SPSB1_uc001apv.3_Missense_Mutation_p.V91I	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	91	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGGGCAAAGTCGGGTATAC	0.632													A	9416221	G	A	9416221	3	1	37	1	0	0	0	0	1	0	0	0	15111	1029	36	3	273	3	SPSB1	1	9416221	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		9416221	239834400	1	2208											
CYP4B1	1580	broad.mit.edu	37	1	47279693	47279693	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:47279693C>T	uc001cqn.4	+	5	817	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	CYP4B1_uc009vyl.1_Missense_Mutation_p.R81C|CYP4B1_uc001cqm.4_Missense_Mutation_p.R244C|CYP4B1_uc009vym.3_Missense_Mutation_p.R230C|CYP4B1_uc010omk.2_Missense_Mutation_p.R81C|CYP4B1_uc010oml.1_Missense_Mutation_p.R82C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	244					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R244L(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCCACATGGCCGCCGCTTCCT	0.592													T	47279693	C	T	47279693	3	4	37	1	0	0	0	0	1	0	0	0	4185	652	23	2	755	2	CYP4B1	1	47279693	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	37863472	47279693	201970928	2	2209											
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:158151257delT	uc001frr.3	+	2	573	c.74delT	c.(73-75)cttfs	p.L25fs	CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.3_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592													-	158151257	T	-	158151257	7	5	37	1	0	1	0	1	0	0	0	0	2977	1609	56	0	80	0	CD1D	1	158151257	Frame_Shift_Del	DEL	T	TCGA-06-0184-01A-01D-1491-08	110871564	158151257	91099364	3	2210											
GPR161	23432	broad.mit.edu	37	1	168065791	168065791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:168065791G>A	uc010pln.2	-	3	1648	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	GPR161_uc001gfb.3_Nonsense_Mutation_p.R220*|GPR161_uc001gfc.3_Nonsense_Mutation_p.R352*|GPR161_uc010pll.2_Nonsense_Mutation_p.R262*|GPR161_uc010plm.2_Nonsense_Mutation_p.R238*|GPR161_uc009wvo.3_Nonsense_Mutation_p.R369*|GPR161_uc001gfd.3_Nonsense_Mutation_p.R352*|GPR161_uc001gfe.1_Nonsense_Mutation_p.R352*	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	352					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GTCCTCTGTCGTTGCACAAAT	0.512													A	168065791	G	A	168065791	4	1	37	1	0	0	0	0	0	1	0	0	6665	1153	40	1	551	1	GPR161	1	168065791	Nonsense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	9914534	168065791	81184830	4	2211											
HMCN1	83872	broad.mit.edu	37	1	186008959	186008959	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:186008959T>C	uc001grq.1	+	38	6357	c.6128T>C	c.(6127-6129)cTg>cCg	p.L2043P		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2043	Ig-like C2-type 18.				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						GCCCCAAGTCTGACCTGGTTG	0.443													C	186008959	T	C	186008959	3	2	37	1	0	0	0	0	1	0	0	0	7220	1580	55	4	6282	4	HMCN1	1	186008959	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08	17943168	186008959	63241662	5	2212											
DSTYK	25778	broad.mit.edu	37	1	205129369	205129369	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:205129369G>A	uc001hbw.3	-	7	2042	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	DSTYK_uc001hbx.3_Missense_Mutation_p.R660W|DSTYK_uc001hby.1_Missense_Mutation_p.R121W	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	660	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TACTGGCCCCGGCCCAGTTCC	0.502													A	205129369	G	A	205129369	3	1	37	1	0	0	0	0	1	0	0	0	4785	1115	39	2	835	2	DSTYK	1	205129369	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	19120410	205129369	44121252	6	2213											
TRIM58	25893	broad.mit.edu	37	1	248023987	248023987	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:248023987C>T	uc001ido.3	+	1	537	c.489C>T	c.(487-489)aaC>aaT	p.N163N		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	163						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGAGGCCAACGTGGGGAAAA	0.483													T	248023987	C	T	248023987	2	4	37	1	0	0	0	0	0	0	0	1	16528	535	19	1		1	TRIM58	1	248023987	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	42894618	248023987	1226634	7	2214											
GPR45	11250	broad.mit.edu	37	2	105859310	105859310	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:105859310G>A	uc002tco.1	+	0	1111	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	332						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.R332H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AAAAAATTCCGCGAGGCCTGC	0.557													A	105859310	G	A	105859310	3	1	37	1	0	0	0	0	1	0	0	0	6696	1087	38	1	997	1	GPR45	2	105859310	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		105859310	137340063	8	2215											
ITGA4	3676	broad.mit.edu	37	2	182360642	182360642	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:182360642C>T	uc002unu.3	+	13	2281	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	506					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CATATAAGGGCAAGGAAGTTC	0.428													T	182360642	C	T	182360642	2	4	37	1	0	0	0	0	0	0	0	1	7878	697	25	3		3	ITGA4	2	182360642	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	76501332	182360642	60838731	9	2216											
ZDBF2	57683	broad.mit.edu	37	2	207175047	207175047	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:207175047G>A	uc002vbp.2	+	4	6045	c.5795G>A	c.(5794-5796)cGt>cAt	p.R1932H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1932							nucleic acid binding|zinc ion binding	p.R1932L(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAAGGGGCGTGTGGCTTCT	0.433													A	207175047	G	A	207175047	3	1	37	1	0	0	0	0	1	0	0	0	17596	1145	40	1	5805	1	ZDBF2	2	207175047	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	24814405	207175047	36024326	10	2217											
THRB	7068	broad.mit.edu	37	3	24231704	24231704	+	Silent	SNP	C	C	T	rs138865141		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:24231704C>T	uc003ccz.4	-	5	664	c.144G>A	c.(142-144)acG>acA	p.T48T	THRB_uc010hfe.3_Silent_p.T48T|THRB_uc003ccy.4_Silent_p.T48T|THRB_uc003ccx.4_Silent_p.T48T|THRB_uc003cdc.3_Silent_p.T43T|THRB_uc003cdd.3_Silent_p.T43T|THRB_uc003cde.1_Silent_p.T43T|THRB_uc021wuc.1_Silent_p.T43T	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	48	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.T48T(2)|p.T48M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CATTTTTCAACGTGCTGCGCC	0.493													T	24231704	C	T	24231704	2	4	37	1	0	0	0	0	0	0	0	1	15872	523	19	1		1	THRB	3	24231704	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		24231704	173790726	11	2218											
BSN	8927	broad.mit.edu	37	3	49691996	49691996	+	Silent	SNP	T	T	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:49691996T>C	uc003cxe.4	+	4	5121	c.5007T>C	c.(5005-5007)cgT>cgC	p.R1669R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1669					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TAGACCTCCGTACAGCTGTCA	0.597													C	49691996	T	C	49691996	2	2	37	1	0	0	0	0	0	0	0	1	1530	1625	57	4		4	BSN	3	49691996	Silent	SNP	T	TCGA-06-0184-01A-01D-1491-08	25460292	49691996	148330434	12	2219											
BSN	8927	broad.mit.edu	37	3	49693009	49693009	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:49693009G>A	uc003cxe.4	+	4	6134	c.6020G>A	c.(6019-6021)gGt>gAt	p.G2007D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2007					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCTTCCAGGGTCCTGGACGA	0.597													A	49693009	G	A	49693009	3	1	37	1	0	0	0	0	1	0	0	0	1530	1261	44	3	6038	3	BSN	3	49693009	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	1013	49693009	148329421	13	2220											
CCDC66	285331	broad.mit.edu	37	3	56651395	56651395	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:56651395G>A	uc003dhz.3	+	13	2186	c.2099G>A	c.(2098-2100)aGg>aAg	p.R700K	CCDC66_uc003dhy.3_Missense_Mutation_p.R336K|CCDC66_uc003dhu.3_Missense_Mutation_p.R666K|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_Missense_Mutation_p.R68K	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	700										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TATCCTAAAAGGCCTGATTGG	0.353													A	56651395	G	A	56651395	3	1	37	1	0	0	0	0	1	0	0	0	2838	1000	35	3	2153	3	CCDC66	3	56651395	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	6958386	56651395	141371035	14	2221											
CADPS	8618	broad.mit.edu	37	3	62860671	62860671	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:62860671C>G	uc003dll.2	-	0	394	c.34G>C	c.(34-36)Gat>Cat	p.D12H	CADPS_uc003dlm.2_Missense_Mutation_p.D12H|CADPS_uc003dln.2_Missense_Mutation_p.D12H|CADPS_uc021wzv.1_Missense_Mutation_p.D12H	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	12					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACGATCTCATCCGATTCTTCT	0.697													G	62860671	C	G	62860671	3	3	37	1	0	0	0	0	1	0	0	0	2570	855	30	5	4220	5	CADPS	3	62860671	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	6209276	62860671	135161759	15	2222											
PDZRN3	23024	broad.mit.edu	37	3	73673955	73673955	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:73673955A>G	uc003dpl.1	-	0	118	c.22T>C	c.(22-24)Ttc>Ctc	p.F8L		NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	8							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGCCGTCGAAGCGGTCCAGC	0.766													G	73673955	A	G	73673955	3	3	37	1	0	0	0	0	1	0	0	0	11709	72	3	4	3218	4	PDZRN3	3	73673955	Missense_Mutation	SNP	A	TCGA-06-0184-01A-01D-1491-08	10813284	73673955	124348475	16	2223											
CNTN3	5067	broad.mit.edu	37	3	74535739	74535739	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:74535739G>A	uc003dpm.1	-	2	306	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	76	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			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)		AACTTATAACGATGTTCCATA	0.353													A	74535739	G	A	74535739	3	1	37	1	0	0	0	0	1	0	0	0	3642	1058	37	2	2940	2	CNTN3	3	74535739	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	861784	74535739	123486691	17	2224											
MCM2	4171	broad.mit.edu	37	3	127318380	127318380	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:127318380G>A	uc003ejp.3	+	1	283	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	MCM2_uc011bkm.2_5'UTR|MCM2_uc010hsl.3_Non-coding_Transcript	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	76	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CATTGGAGATGGCATGGAAAG	0.567													A	127318380	G	A	127318380	3	1	37	1	0	0	0	0	1	0	0	0	9386	1348	47	3	232	3	MCM2	3	127318380	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	52782641	127318380	70704050	18	2225											
RUFY3	22902	broad.mit.edu	37	4	71644115	71644115	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:71644115T>A	uc003hfr.3	+	7	1449	c.854T>A	c.(853-855)gTa>gAa	p.V285E	RUFY3_uc003hfp.4_Missense_Mutation_p.V345E|RUFY3_uc003hfq.3_Missense_Mutation_p.V285E|RUFY3_uc011cax.2_Missense_Mutation_p.V303E|RUFY3_uc011cay.2_Missense_Mutation_p.V221E	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	285					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CAGGCAAAAGTAGATGCATTA	0.313													A	71644115	T	A	71644115	3	1	37	1	0	0	0	0	1	0	0	0	13740	1638	57	5	1246	5	RUFY3	4	71644115	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08		71644115	119510161	19	2226											
LARP1B	55132	broad.mit.edu	37	4	128999066	128999066	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:128999066G>C	uc003iga.3	+	3	297	c.166G>C	c.(166-168)Ggt>Cgt	p.G56R	LARP1B_uc003ifw.1_Missense_Mutation_p.G56R|LARP1B_uc003ifx.3_Missense_Mutation_p.G56R|LARP1B_uc003ify.3_Missense_Mutation_p.G56R|LARP1B_uc003ifz.1_Missense_Mutation_p.G56R	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	56							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAATGGTCCTGGTGAAAACGT	0.343													C	128999066	G	C	128999066	3	2	37	1	0	0	0	0	1	0	0	0	8629	1348	47	5	172	5	LARP1B	4	128999066	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	57354951	128999066	62155210	20	2227											
PHF17	79960	broad.mit.edu	37	4	129770219	129770219	+	Silent	SNP	C	C	G			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:129770219C>G	uc011cgy.2	+	4	695	c.381C>G	c.(379-381)ggC>ggG	p.G127G	PHF17_uc003igj.3_Silent_p.G127G|PHF17_uc003igk.3_Silent_p.G127G|PHF17_uc003igl.3_Silent_p.G115G|PHF17_uc003igm.3_Silent_p.G127G	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	127					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCGAGTTGGGCTATGTGGACA	0.488													G	129770219	C	G	129770219	2	3	37	1	0	0	0	0	0	0	0	1	11828	784	28	5		5	PHF17	4	129770219	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	771153	129770219	61384057	21	2228											
PCDH18	54510	broad.mit.edu	37	4	138442740	138442740	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:138442740C>G	uc003ihe.4	-	3	3238	c.2851G>C	c.(2851-2853)Ggg>Cgg	p.G951R	PCDH18_uc003ihf.4_Missense_Mutation_p.G943R|PCDH18_uc011cgz.2_Missense_Mutation_p.G162R|PCDH18_uc003ihg.4_Missense_Mutation_p.G730R|PCDH18_uc011cha.2_Missense_Mutation_p.G131R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	951	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G951E(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)					AATTCTTCCCCTGGAATGAAC	0.532													G	138442740	C	G	138442740	3	3	37	1	0	0	0	0	1	0	0	0	11513	681	24	5	560	5	PCDH18	4	138442740	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	8672521	138442740	52711536	22	2229											
CDH18	1016	broad.mit.edu	37	5	19747261	19747261	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:19747261C>T	uc003jgd.3	-	3	847	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CDH18_uc011cnm.2_Missense_Mutation_p.D105N|CDH18_uc003jgc.3_Missense_Mutation_p.D105N|CDH18_uc021xwu.1_Missense_Mutation_p.D105N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	105	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D104_D105>EY(3)|p.D105Y(3)|p.D104E(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCGTGGTATCGTCAATGATA	0.438													T	19747261	C	T	19747261	3	4	37	1	0	0	0	0	1	0	0	0	3103	884	31	2	2099	2	CDH18	5	19747261	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		19747261	161167999	23	2230											
ADAMTS12	81792	broad.mit.edu	37	5	33683134	33683134	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:33683134C>T	uc003jia.1	-	4	1067	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E302K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	302	Peptidase M12B.|Poly-Glu.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TCTTCTTCTTCGAGTAGAATG	0.423										HNSCC(64;0.19)			T	33683134	C	T	33683134	3	4	37	1	0	0	0	0	1	0	0	0	257	893	31	2	3960	2	ADAMTS12	5	33683134	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	13935873	33683134	147232126	24	2231											
MATR3	9782	broad.mit.edu	37	5	138657666	138657666	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:138657666G>A	uc003ldw.3	+	10	2085	c.1682G>A	c.(1681-1683)gGg>gAg	p.G561E	MATR3_uc003ldt.3_Missense_Mutation_p.G223E|MATR3_uc003ldu.3_Missense_Mutation_p.G561E|MATR3_uc010jfb.3_Missense_Mutation_p.G561E|MATR3_uc003ldx.3_Missense_Mutation_p.G561E|MATR3_uc003ldy.3_Missense_Mutation_p.G238E|MATR3_uc003ldz.3_Missense_Mutation_p.G561E|MATR3_uc011czb.2_Missense_Mutation_p.G273E|MATR3_uc003leb.3_Missense_Mutation_p.G223E|MATR3_uc003lec.3_Missense_Mutation_p.G238E	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	561	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGTTTCAGGGGAGATGTGTG	0.348													A	138657666	G	A	138657666	3	1	37	1	0	0	0	0	1	0	0	0	9337	1232	43	3	1716	3	MATR3	5	138657666	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	104974532	138657666	42257594	25	2232											
PCDHGC5	5098	broad.mit.edu	37	5	140856716	140856716	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:140856716G>A	uc003lkv.2	+	0	1148	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.V345M|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	343	Cadherin 3.				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)			GGTTGTGGATGTGAATGACAA	0.547													A	140856716	G	A	140856716	3	1	37	1	0	0	0	0	1	0	0	0	11571	1377	48	3		3	PCDHGC5	5	140856716	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	2199050	140856716	40058544	26	2233											
EBF1	1879	broad.mit.edu	37	5	158140057	158140057	+	Silent	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:158140057G>A	uc010jip.3	-	12	1592	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	EBF1_uc011ddw.2_Silent_p.H298H|EBF1_uc011ddx.2_Silent_p.H431H|EBF1_uc003lxl.4_Silent_p.H399H	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	430					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.H430Y(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCCCTGCGTGGACCGAGG	0.557			T	HMGA2	lipoma								A	158140057	G	A	158140057	2	1	37	1	0	0	0	0	0	0	0	1	4880	1136	40	1		1	EBF1	5	158140057	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	17283341	158140057	22775203	27	2234											
FGD2	221472	broad.mit.edu	37	6	36993651	36993651	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr6:36993651C>T	uc010jwp.1	+	13	1713	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y	FGD2_uc003ong.2_Silent_p.Y236Y|FGD2_uc011dtv.1_Silent_p.Y142Y|FGD2_uc003onj.1_Silent_p.Y91Y	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	514					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCACTGCTACGCATTCCTCA	0.612													T	36993651	C	T	36993651	2	4	37	1	0	0	0	0	0	0	0	1	5833	547	19	1		1	FGD2	6	36993651	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		36993651	134121416	28	2235											
REV3L	5980	broad.mit.edu	37	6	111696862	111696862	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr6:111696862A>T	uc003puy.4	-	12	3037	c.2696T>A	c.(2695-2697)tTt>tAt	p.F899Y	REV3L_uc003pux.4_Missense_Mutation_p.F821Y|REV3L_uc003puz.4_Missense_Mutation_p.F821Y	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	899					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCCATCTCCAAAGTGACAGTC	0.378								DNA polymerases (catalytic subunits)					T	111696862	A	T	111696862	3	4	37	1	0	0	0	0	1	0	0	0	13240	14	1	5	6776	5	REV3L	6	111696862	Missense_Mutation	SNP	A	TCGA-06-0184-01A-01D-1491-08	74703211	111696862	59418205	29	2236											
DNAH11	8701	broad.mit.edu	37	7	21698496	21698496	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:21698496C>T	uc003svc.3	+	29	5221	c.5190C>T	c.(5188-5190)taC>taT	p.Y1730Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1730	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGTGGCCTACGAGGAAAAAC	0.443									Kartagener syndrome				T	21698496	C	T	21698496	2	4	37	1	0	0	0	0	0	0	0	1	4599	547	19	1		1	DNAH11	7	21698496	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		21698496	137440167	30	2237											
GNAT3	346562	broad.mit.edu	37	7	80088110	80088110	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:80088110delT	uc011kgu.2	-	7	942	c.942delA	c.(940-942)aaafs	p.K314fs	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	314					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCTTATCTTCTTTTTTTAAAT	0.328													-	80088110	T	-	80088110	7	5	37	1	0	1	0	1	0	0	0	0	6513	1606	56	0	124	0	GNAT3	7	80088110	Frame_Shift_Del	DEL	T	TCGA-06-0184-01A-01D-1491-08	58389614	80088110	79050553	31	2238											
ZAN	7455	broad.mit.edu	37	7	100364655	100364655	+	Silent	SNP	G	G	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:100364655G>T	uc003uwj.3	+	24	4800	c.4635G>T	c.(4633-4635)tcG>tcT	p.S1545S	ZAN_uc003uwk.3_Silent_p.S1545S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.S122S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1545	VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			GCACAGCCTCGGGTGACCCCC	0.607													T	100364655	G	T	100364655	2	4	37	1	0	0	0	0	0	0	0	1	17510	1103	39	5		5	ZAN	7	100364655	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	20276545	100364655	58774008	32	2239											
CUL1	8454	broad.mit.edu	37	7	148457457	148457457	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:148457457G>A	uc010lpg.3	+	6	1184	c.658G>A	c.(658-660)Gca>Aca	p.A220T	CUL1_uc003wey.3_Missense_Mutation_p.A220T|CUL1_uc003wez.3_Missense_Mutation_p.A110T	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGATGCATTTGCAAAGGGCCC	0.338													A	148457457	G	A	148457457	3	1	37	1	0	0	0	0	1	0	0	0	4054	1319	46	3	680	3	CUL1	7	148457457	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	48092802	148457457	10681206	33	2240											
CNTLN	54875	broad.mit.edu	37	9	17135249	17135249	+	Silent	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:17135249G>A	uc003zmz.2	+	0	212	c.186G>A	c.(184-186)ggG>ggA	p.G62G	CNTLN_uc003zmx.4_Silent_p.G62G|CNTLN_uc003zmy.3_Silent_p.G62G|CNTLN_uc003zmw.2_Silent_p.G62G	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	62						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTGAAGAAGGGTCAGGGGGCC	0.672													A	17135249	G	A	17135249	2	1	37	1	0	0	0	0	0	0	0	1	3639	1248	44	3		3	CNTLN	9	17135249	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08		17135249	124078182	34	2241											
TEK	7010	broad.mit.edu	37	9	27229172	27229172	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:27229172C>T	uc011lno.2	+	21	3630	c.3188C>T	c.(3187-3189)aCg>aTg	p.T1063M	TEK_uc003zqi.4_Missense_Mutation_p.T1106M|TEK_uc011lnp.2_Missense_Mutation_p.T958M	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1106	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.T1106M(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GTGAATACCACGCTTTATGAG	0.453													T	27229172	C	T	27229172	3	4	37	1	0	0	0	0	1	0	0	0	15748	536	19	1	3407	1	TEK	9	27229172	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	10093923	27229172	113984259	35	2242											
NFX1	4799	broad.mit.edu	37	9	33294757	33294757	+	Missense_Mutation	SNP	A	A	C	rs147195056		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:33294757A>C	uc003zsr.3	+	1	518	c.365A>C	c.(364-366)cAg>cCg	p.Q122P	NFX1_uc011lnw.2_Missense_Mutation_p.Q122P|NFX1_uc003zso.3_Missense_Mutation_p.Q122P|NFX1_uc003zsp.2_Missense_Mutation_p.Q122P|NFX1_uc010mjr.2_Missense_Mutation_p.Q122P|NFX1_uc003zsq.3_Missense_Mutation_p.Q122P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	122					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAGAAAGCACAGAGTCTTGCT	0.483													C	33294757	A	C	33294757	3	2	37	1	0	0	0	0	1	0	0	0	10387	188	7	5	371	5	NFX1	9	33294757	Missense_Mutation	SNP	A	TCGA-06-0184-01A-01D-1491-08	6065585	33294757	107918674	36	2243											
ZNF33B	7582	broad.mit.edu	37	10	43088980	43088980	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:43088980T>C	uc001jaf.1	-	4	1533	c.1418A>G	c.(1417-1419)gAg>gGg	p.E473G	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.E361G|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	473						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E473*(1)|p.E473Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTCCCACACTCAAGACATTC	0.383													C	43088980	T	C	43088980	3	2	37	1	0	0	0	0	1	0	0	0	17852	1551	54	4	922	4	ZNF33B	10	43088980	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08		43088980	92445767	37	2244											
PTEN	5728	broad.mit.edu	37	10	89653809	89653809	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:89653809G>A	uc001kfb.3	+	1	1139	c.107G>A	c.(106-108)gGa>gAa	p.G36E	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	36	Phosphatase tensin-type.		G -> E (in glioma).|G -> R (in endometrial hyperplasia).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.G36E(8)|p.?(8)|p.G36R(4)|p.G36V(4)|p.G36fs*18(2)|p.A34_G36del(2)|p.Y27fs*1(2)|p.M35V(2)|p.Y27_N212>Y(2)|p.G36*(1)|p.M35R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATTGCTATGGGATTTCCTGCA	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89653809	G	A	89653809	3	1	37	1	0	0	0	0	1	0	0	0	12738	1174	41	3	113	3	PTEN	10	89653809	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	46564829	89653809	45880938	38	2245											
MUC2	4583	broad.mit.edu	37	11	1101144	1101144	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:1101144G>A	uc001lsx.1	+	42	7558	c.7531G>A	c.(7531-7533)Gac>Aac	p.D2511N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4877						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACCCTGCCGACACCTGCTG	0.622													A	1101144	G	A	1101144	3	1	37	1	0	0	0	0	1	0	0	0	9975	1058	37	2	7697	2	MUC2	11	1101144	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		1101144	133905372	39	2246											
OR51T1	401665	broad.mit.edu	37	11	4903141	4903141	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:4903141C>A	uc010qyp.2	+	0	93	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TGGCAATATTCAATAACACCA	0.368													A	4903141	C	A	4903141	3	1	37	1	0	0	0	0	1	0	0	0	11106	825	29	5	95	5	OR51T1	11	4903141	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	3801997	4903141	130103375	40	2247											
OR10A6	390093	broad.mit.edu	37	11	7949484	7949484	+	Silent	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:7949484G>A	uc010rbh.2	-	0	726	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGTGAGCGGCACAGGTGG	0.453													A	7949484	G	A	7949484	2	1	37	1	0	0	0	0	0	0	0	1	10894	1103	39	2		2	OR10A6	11	7949484	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	3046343	7949484	127057032	41	2248											
MADD	8567	broad.mit.edu	37	11	47345856	47345856	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:47345856G>A	uc001ner.1	+	31	4774	c.4583G>A	c.(4582-4584)cGc>cAc	p.R1528H	MADD_uc001neq.2_Missense_Mutation_p.R1469H|MADD_uc001nev.1_Missense_Mutation_p.R1426H|MADD_uc001nes.1_Missense_Mutation_p.R1446H|MADD_uc001net.1_Missense_Mutation_p.R1489H|MADD_uc009yln.1_Missense_Mutation_p.R1422H|MADD_uc001neu.1_Missense_Mutation_p.R1426H|MADD_uc001nez.2_Missense_Mutation_p.R1425H|MADD_uc001new.2_Missense_Mutation_p.R1468H|MADD_uc001nex.2_Missense_Mutation_p.R1528H|MADD_uc009ylo.3_Missense_Mutation_p.R442H	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1528					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGCATGGAGCGCGCTGCCGCC	0.592													A	47345856	G	A	47345856	3	1	37	1	0	0	0	0	1	0	0	0	9152	1087	38	1	4705	1	MADD	11	47345856	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	39396372	47345856	87660660	42	2249											
MS4A7	58475	broad.mit.edu	37	11	60150731	60150731	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:60150731C>T	uc001npe.3	+	1	262	c.117C>T	c.(115-117)aaC>aaT	p.N39N	MS4A7_uc001npf.3_Silent_p.N39N|MS4A7_uc001npg.3_Silent_p.N39N|MS4A7_uc001nph.3_Silent_p.N39N|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	39						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACCTGCAGAACGGGCTGCCAA	0.438													T	60150731	C	T	60150731	2	4	37	1	0	0	0	0	0	0	0	1	9866	535	19	1		1	MS4A7	11	60150731	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	12804875	60150731	74855785	43	2250											
NADSYN1	55191	broad.mit.edu	37	11	71191823	71191823	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:71191823C>T	uc001oqn.3	+	10	1022	c.896C>T	c.(895-897)cCc>cTc	p.P299L	NADSYN1_uc001oqo.3_Missense_Mutation_p.P39L|NADSYN1_uc001oqp.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	299	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCCCCTACCCCAGAGTGAAG	0.587													T	71191823	C	T	71191823	3	4	37	1	0	0	0	0	1	0	0	0	10138	623	22	3	938	3	NADSYN1	11	71191823	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	11041092	71191823	63814693	44	2251											
SPATA19	219938	broad.mit.edu	37	11	133714446	133714446	+	Silent	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:133714446G>A	uc001qgv.1	-	2	276	c.225C>T	c.(223-225)tcC>tcT	p.S75S		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	75					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GGGTGGGAGGGGAGTCAGTGG	0.552													A	133714446	G	A	133714446	2	1	37	1	0	0	0	0	0	0	0	1	15003	1219	43	3		3	SPATA19	11	133714446	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	62522623	133714446	1292070	45	2252											
C12orf50	160419	broad.mit.edu	37	12	88379716	88379716	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr12:88379716G>A	uc001tam.1	-	10	1205	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	C12orf50_uc001tan.3_Missense_Mutation_p.A361V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	346										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCATTCAACGCGACAGTCCT	0.478													A	88379716	G	A	88379716	3	1	37	1	0	0	0	0	1	0	0	0	1695	1087	38	1	219	1	C12orf50	12	88379716	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		88379716	45472179	46	2253											
TPTE2	93492	broad.mit.edu	37	13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:20039688G>A	uc001umd.3	-	8	740	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	177						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													A	20039688	G	A	20039688	4	1	37	1	0	0	0	0	0	1	0	0	16428	1066	37	2	1091	2	TPTE2	13	20039688	Nonsense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		20039688	95130190	47	2254											
ZC3H13	23091	broad.mit.edu	37	13	46544544	46544544	+	Missense_Mutation	SNP	C	C	T	rs144621814		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:46544544C>T	uc010tfw.1	-	11	2531	c.2525G>A	c.(2524-2526)cGt>cAt	p.R842H	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R842H|ZC3H13_uc001vat.1_Missense_Mutation_p.R842H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	842	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			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)		AGAATGTTCACGCCGGCGCTT	0.438													T	46544544	C	T	46544544	3	4	37	1	0	0	0	0	1	0	0	0	17562	536	19	1	2189	1	ZC3H13	13	46544544	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	26504856	46544544	68625334	48	2255											
RB1	5925	broad.mit.edu	37	13	49033823	49033823	+	Splice_Site	SNP	G	G	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:49033823G>T	uc001vcb.3	+	20	2127	c.1961_splice	c.e20-1	p.V654_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	654	Domain B.|Pocket; binds T and E1A.		V -> E (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(16)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATTCCCACAGTGTATCGGCT	0.363		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	49033823	G	T	49033823	5	4	37	1	0	0	0	0	0	0	1	0	13098	1043	36	5	2038	5	RB1	13	49033823	Splice_Site	SNP	G	TCGA-06-0184-01A-01D-1491-08	2489279	49033823	66136055	49	2256											
SYNE2	23224	broad.mit.edu	37	14	64496750	64496750	+	Silent	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:64496750G>A	uc001xgl.3	+	43	7082	c.6852G>A	c.(6850-6852)gcG>gcA	p.A2284A	SYNE2_uc001xgm.3_Silent_p.A2284A|SYNE2_uc021ruh.1_Silent_p.A2284A	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2284			A -> V (in dbSNP:rs4027402).		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			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)		ATCAAATAGCGGTTGAGGAAA	0.363													A	64496750	G	A	64496750	2	1	37	1	0	0	0	0	0	0	0	1	15443	1103	39	2		2	SYNE2	14	64496750	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08		64496750	42852790	50	2257											
PROX2	283571	broad.mit.edu	37	14	75329430	75329430	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:75329430G>A	uc021rwo.1	-	0	1108	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	PROX2_uc001xqp.2_Nonsense_Mutation_p.Q370*|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	370					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGGTGCCTCTGGGAAGATGAG	0.542													A	75329430	G	A	75329430	4	1	37	1	0	0	0	0	0	1	0	0	12561	1357	47	3	686	3	PROX2	14	75329430	Nonsense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	10832680	75329430	32020110	51	2258											
KCNK10	54207	broad.mit.edu	37	14	88729810	88729810	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:88729810C>T	uc001xwm.3	-	1	260	c.138G>A	c.(136-138)ccG>ccA	p.P46P	KCNK10_uc001xwn.3_Silent_p.P46P|KCNK10_uc001xwo.3_Silent_p.P41P	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	41					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.S46F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGGACAGGCGCGGAGTTGGAG	0.652													T	88729810	C	T	88729810	2	4	37	1	0	0	0	0	0	0	0	1	8059	755	27	1		1	KCNK10	14	88729810	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	13400380	88729810	18619730	52	2259											
ISLR	3671	broad.mit.edu	37	15	74467595	74467595	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr15:74467595C>T	uc002axg.1	+	1	678	c.396C>T	c.(394-396)aaC>aaT	p.N132N	ISLR_uc002axh.1_Silent_p.N132N|ISLR_uc021sqf.1_Silent_p.N132N	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	132					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGACAGCAACGAGCTGACCT	0.592													T	74467595	C	T	74467595	2	4	37	1	0	0	0	0	0	0	0	1	7858	535	19	1		1	ISLR	15	74467595	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		74467595	28063797	53	2260											
CHP2	63928	broad.mit.edu	37	16	23767768	23767768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr16:23767768C>T	uc002dmb.1	+	4	835	c.412C>T	c.(412-414)Cag>Tag	p.Q138*		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	138	EF-hand 3.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TGAGATGCTGCAGGTTGGCAG	0.537													T	23767768	C	T	23767768	4	4	37	1	0	0	0	0	0	1	0	0	3367	711	25	3	430	3	CHP2	16	23767768	Nonsense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		23767768	66586985	54	2261											
CES1	1066	broad.mit.edu	37	16	55855414	55855414	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr16:55855414G>A	uc002eim.3	-	4	664	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	CES1_uc002eil.3_Missense_Mutation_p.R187W|CES1_uc002ein.3_Missense_Mutation_p.R186W	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	186				R -> G (in Ref. 18; CAA37147).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CAGTTCCCCCGGCTGTGTTCA	0.602													A	55855414	G	A	55855414	3	1	37	1	0	0	0	0	1	0	0	0	3269	1115	39	2	1187	2	CES1	16	55855414	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	32087646	55855414	34499339	55	2262											
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:7578457C>T	uc002gim.2	-	4	667	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(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)		GGCCATGGCGCGGACGCGGGT	0.627		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)			T	7578457	C	T	7578457	3	4	37	1	0	0	0	0	1	0	0	0	16378	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		7578457	73616753	56	2263											
NF1	4763	broad.mit.edu	37	17	29665808	29665808	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:29665808delG	uc002hgg.3	+	45	7289	c.6906delG	c.(6904-6906)cagfs	p.Q2302fs	NF1_uc002hgh.3_Frame_Shift_Del_p.Q2281fs|NF1_uc010cso.3_Frame_Shift_Del_p.Q490fs|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2302					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q2302fs*17(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAATTACAGCCACTTCTTA	0.333			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29665808	G	-	29665808	7	5	37	1	0	1	0	1	0	0	0	0	10356	962	34	0	7149	0	NF1	17	29665808	Frame_Shift_Del	DEL	G	TCGA-06-0184-01A-01D-1491-08	22087351	29665808	51529402	57	2264											
SLC25A39	51629	broad.mit.edu	37	17	42400868	42400868	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:42400868C>T	uc002ign.2	-	1	217	c.63G>A	c.(61-63)ggG>ggA	p.G21G	SLC25A39_uc002igm.2_Silent_p.G21G|SLC25A39_uc010wiw.1_Silent_p.G21G|SLC25A39_uc010wix.1_Silent_p.G21G|SLC25A39_uc010wiy.1_Silent_p.G21G	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	21					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TAACCACAGCCCCGGTGCCTG	0.617													T	42400868	C	T	42400868	2	4	37	1	0	0	0	0	0	0	0	1	14503	610	22	3		3	SLC25A39	17	42400868	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	12735060	42400868	38794342	58	2265											
UNC13D	201294	broad.mit.edu	37	17	73827417	73827417	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:73827417C>T	uc002jpp.3	-	25	2840	c.2460G>A	c.(2458-2460)ctG>ctA	p.L820L	UNC13D_uc010wsk.1_Silent_p.L820L|UNC13D_uc002jpq.1_3'UTR	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	820	MHD2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGTCCAGAGCAGGGTCAGGA	0.667									Familial Hemophagocytic Lymphohistiocytosis				T	73827417	C	T	73827417	2	4	37	1	0	0	0	0	0	0	0	1	16984	697	25	3		3	UNC13D	17	73827417	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	31426549	73827417	7367793	59	2266											
SEMA6B	10501	broad.mit.edu	37	19	4555533	4555533	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr19:4555533G>C	uc010dud.2	-	6	777	c.515C>G	c.(514-516)gCc>gGc	p.A172G	SEMA6B_uc010xih.1_Missense_Mutation_p.A172G	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	172	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			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)		CGGGCAGCGGGCCATACCGCT	0.622													C	4555533	G	C	4555533	3	2	37	1	0	0	0	0	1	0	0	0	14040	1203	42	5	2195	5	SEMA6B	19	4555533	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		4555533	54573450	60	2267											
ILF3	3609	broad.mit.edu	37	19	10799315	10799315	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr19:10799315G>A	uc002mpn.3	+	18	2829	c.2512G>A	c.(2512-2514)Gga>Aga	p.G838R	ILF3_uc002mpo.3_Missense_Mutation_p.G842R|ILF3_uc002mpq.3_Silent_p.A140A	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	838	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGCTACGGCGGAGGTTCTGG	0.667													A	10799315	G	A	10799315	3	1	37	1	0	0	0	0	1	0	0	0	7712	1117	39	2	2666	2	ILF3	19	10799315	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	6243782	10799315	48329668	61	2268											
ANGPT4	51378	broad.mit.edu	37	20	858921	858921	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr20:858921T>A	uc002wei.3	-	6	1206	c.1103A>T	c.(1102-1104)cAc>cTc	p.H368L	ANGPT4_uc010zpn.2_Missense_Mutation_p.H362L	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	368	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGTGAGCTGGTGCACCACTTC	0.612													A	858921	T	A	858921	3	1	37	1	0	0	0	0	1	0	0	0	612	1696	59	5	420	5	ANGPT4	20	858921	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08		858921	62166599	62	2269											
CHGB	1114	broad.mit.edu	37	20	5903619	5903619	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr20:5903619C>T	uc002wmg.3	+	3	1135	c.829C>T	c.(829-831)Cga>Tga	p.R277*	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	277						extracellular region	hormone activity	p.R277*(2)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGTGGACAAACGACGCACGAG	0.607													T	5903619	C	T	5903619	4	4	37	1	0	0	0	0	0	1	0	0	3339	528	19	1	843	1	CHGB	20	5903619	Nonsense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	5044698	5903619	57121901	63	2270											
EIF3L	51386	broad.mit.edu	37	22	38274115	38274115	+	Silent	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr22:38274115C>T	uc003auf.3	+	10	1590	c.1512C>T	c.(1510-1512)agC>agT	p.S504S	EIF3L_uc011ann.2_Silent_p.S456S|EIF3L_uc003aug.3_Silent_p.S396S	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	504						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTGGACCAGCGGTATCTCAG	0.522													T	38274115	C	T	38274115	2	4	37	1	0	0	0	0	0	0	0	1	5022	767	27	1		1	EIF3L	22	38274115	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		38274115	13030451	64	2271											
BTK	695	broad.mit.edu	37	X	100611084	100611084	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chrX:100611084C>T	uc010nno.2	-	14	1857	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	BTK_uc004ehf.2_Missense_Mutation_p.A8T|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.A78T|BTK_uc004ehg.2_Missense_Mutation_p.A508T|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.3_Missense_Mutation_p.A508T	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	508	Protein kinase.		L -> P (in XLA; growth hormone deficiency).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.A508T(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATTCCATGGCTTCACAGACA	0.547									Agammaglobulinemia, X-linked				T	100611084	C	T	100611084	3	4	37	1	0	0	0	0	1	0	0	0	1557	797	28	3	477	3	BTK	23	100611084	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		100611084	54659476	65	2272											
ACAP3	116983	broad.mit.edu	37	1	1229200	1229201	+	Splice_Site	DEL	CA	CA	-			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:1229200_1229201delCA	uc001aeb.2	-	23	2434	c.2360_splice	c.e23+1	p.L787_splice	ACAP3_uc001ady.2_Splice_Site_p.L517_splice|ACAP3_uc001aea.2_Splice_Site_p.L712_splice	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	787					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGGCCGCGCTCACAGTGTCACG	0.752													-	1229201	CA	-	1229200	8	5	38	1	0	1	0	1	0	0	1	0	120	841	29	0		0	ACAP3	1	1229200	Splice_Site	DEL	CA	TCGA-06-0185-01A-01W-0254-08		1229200	248021421	1	2273											
TMCO4	255104	broad.mit.edu	37	1	20027271	20027271	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:20027271C>T	uc001bcn.3	-	13	1614	c.1372G>A	c.(1372-1374)Ggc>Agc	p.G458S	TMCO4_uc001bco.1_Missense_Mutation_p.G458S|TMCO4_uc001bcp.1_Missense_Mutation_p.G418S	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	458						integral to membrane				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)		CTGCAGTAGCCGTTGATGATC	0.567													T	20027271	C	T	20027271	3	4	38	1	0	0	0	0	1	0	0	0	15995	652	23	2	544	2	TMCO4	1	20027271	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	18798071	20027271	229223350	2	2274											
HOOK1	51361	broad.mit.edu	37	1	60299185	60299185	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:60299185G>A	uc009wad.3	+	5	484	c.382G>A	c.(382-384)Gcg>Acg	p.A128T	HOOK1_uc001czo.3_Missense_Mutation_p.A128T|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.A86T	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	128	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			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)					TTTAGGTTGTGCGATCAACTG	0.373													A	60299185	G	A	60299185	3	1	38	1	0	0	0	0	1	0	0	0	7282	1319	46	3	400	3	HOOK1	1	60299185	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	40271914	60299185	188951436	3	2275											
RBMXL1	494115	broad.mit.edu	37	1	89448530	89448530	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:89448530T>A	uc021opo.1	-	0	980	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.Y327F|RBMXL1_uc001dms.3_Missense_Mutation_p.Y327F	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	327	Ser-rich.						nucleotide binding|RNA binding										GCTGCTTGAGTAACTGTCTCG	0.517													A	89448530	T	A	89448530	3	1	38	1	0	0	0	0	1	0	0	0	13153	1638	57	5	196	5	RBMXL1	1	89448530	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	29149345	89448530	159802091	4	2276											
SPTA1	6708	broad.mit.edu	37	1	158622276	158622276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:158622276delT	uc001fst.1	-	22	3555	c.3356delA	c.(3355-3357)aagfs	p.K1119fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1119					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATCAAACTTTTTCTGCAG	0.398													-	158622276	T	-	158622276	7	5	38	1	0	1	0	1	0	0	0	0	15115	1609	56	0	4023	0	SPTA1	1	158622276	Frame_Shift_Del	DEL	T	TCGA-06-0185-01A-01W-0254-08	69173746	158622276	90628345	5	2277											
DDR2	4921	broad.mit.edu	37	1	162749912	162749912	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:162749912C>T	uc001gcf.3	+	18	2909	c.2444C>T	c.(2443-2445)cCt>cTt	p.P815L	DDR2_uc001gcg.3_Missense_Mutation_p.P815L|AF268386_uc001gch.1_5'Flank	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	815	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P815L(2)		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)			ACTTACCTCCCTCAACCAGCC	0.438													T	162749912	C	T	162749912	3	4	38	1	0	0	0	0	1	0	0	0	4337	681	24	3	2506	3	DDR2	1	162749912	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	4127636	162749912	86500709	6	2278											
SMG7	9887	broad.mit.edu	37	1	183511445	183511445	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:183511445C>T	uc001gqg.3	+	13	1900	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	SMG7_uc010pob.2_Silent_p.N579N|SMG7_uc021pga.1_Silent_p.N508N|SMG7_uc001gqf.3_Silent_p.N550N|SMG7_uc001gqh.3_Silent_p.N550N|SMG7_uc010poc.2_Silent_p.N508N	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	550					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCAAAGAAAACATTAAGACAC	0.428													T	183511445	C	T	183511445	2	4	38	1	0	0	0	0	0	0	0	1	14798	477	17	3		3	SMG7	1	183511445	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	20761533	183511445	65739176	7	2279											
HMCN1	83872	broad.mit.edu	37	1	185972975	185972975	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:185972975A>T	uc001grq.1	+	29	4704	c.4475_splice	c.e29+1	p.K1492_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1492	Ig-like C2-type 12.				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						CAAAGATGGCAAGTGAGTATC	0.388													T	185972975	A	T	185972975	4	4	38	1	0	0	0	0	0	1	0	0	7220	144	5	5	4588	5	HMCN1	1	185972975	Nonsense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	2461530	185972975	63277646	8	2280											
USH2A	7399	broad.mit.edu	37	1	216373084	216373084	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:216373084C>T	uc001hku.1	-	16	4083	c.3696G>A	c.(3694-3696)ttG>ttA	p.L1232L	USH2A_uc001hkv.3_Silent_p.L1232L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1232	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		CTGTAATGGGCAAGCTGTGTA	0.483										HNSCC(13;0.011)			T	216373084	C	T	216373084	2	4	38	1	0	0	0	0	0	0	0	1	17033	709	25	3		3	USH2A	1	216373084	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	30400109	216373084	32877537	9	2281											
ZP4	57829	broad.mit.edu	37	1	238053434	238053434	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:238053434C>G	uc001hym.3	-	1	505	c.218G>C	c.(217-219)tGt>tCt	p.C73S	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	73					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)			CCAGGTGCCACAGTCGGAGTC	0.562													G	238053434	C	G	238053434	3	3	38	1	0	0	0	0	1	0	0	0	18215	478	17	5	1448	5	ZP4	1	238053434	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	21680350	238053434	11197187	10	2282											
OR2W5	441932	broad.mit.edu	37	1	247654759	247654759	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:247654759C>T	uc001icz.2	+	0	390	c.330C>T	c.(328-330)acC>acT	p.T110T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T110T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGGCTCCACCGAGTGCGTCC	0.607													T	247654759	C	T	247654759	2	4	38	1	0	0	0	0	0	0	0	1	11034	639	23	2		2	OR2W5	1	247654759	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	9601325	247654759	1595862	11	2283											
TCF23	150921	broad.mit.edu	37	2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:27373157G>A	uc010ylg.2	+	1	446	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	130	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652													A	27373157	G	A	27373157	3	1	38	1	0	0	0	0	1	0	0	0	15689	1087	38	1	395	1	TCF23	2	27373157	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		27373157	215826216	12	2284											
PLB1	151056	broad.mit.edu	37	2	28764631	28764631	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:28764631G>A	uc002rmb.2	+	12	876	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	PLB1_uc010ezj.2_Missense_Mutation_p.V289M	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	278	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.T277T(2)|p.V278M(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)					GTCCTTCACCGTGGTTTTCCA	0.592													A	28764631	G	A	28764631	3	1	38	1	0	0	0	0	1	0	0	0	12024	1145	40	1	915	1	PLB1	2	28764631	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	1391474	28764631	214434742	13	2285											
RAB11FIP5	26056	broad.mit.edu	37	2	73315522	73315544	+	Frame_Shift_Del	DEL	AGCACTCAGCTCCTCCTGTCCAA	AGCACTCAGCTCCTCCTGTCCAA	-	rs138135562		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	uc002siu.4	-	2	1443_1465	c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT	c.(1201-1224)cttggacaggaggagctgagtgctfs	p.L401fs	RAB11FIP5_uc002sit.4_Frame_Shift_Del_p.L323fs	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	401					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.L406L(2)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTAGCCTGAGCACTCAGCTCCTCCTGTCCAAGCACTGCCTC	0.637													-	73315544	AGCACTCAGCTCCTCCTGTCCAA	-	73315522	7	5	38	1	0	1	0	1	0	0	0	0	12897	291	11	0	749	0	RAB11FIP5	2	73315522	Frame_Shift_Del	DEL	AGCACTCAGCTCCTCCTGTCCAA	TCGA-06-0185-01A-01W-0254-08	44550891	73315522	169883851	14	2286											
TTN	7273	broad.mit.edu	37	2	179455353	179455353	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:179455353G>A	uc021vsy.1	-	252	53620	c.53395C>T	c.(53395-53397)Cgg>Tgg	p.R17799W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11494W|TTN_uc021vta.1_Missense_Mutation_p.R11427W|TTN_uc021vtb.1_Missense_Mutation_p.R11302W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18726	Ig-like 104.						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)			TTGATGGGCCGGCAAGCTTTT	0.433													A	179455353	G	A	179455353	3	1	38	1	0	0	0	0	1	0	0	0	16732	1115	39	2	47116	2	TTN	2	179455353	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	106139831	179455353	63744020	15	2287											
STAT1	6772	broad.mit.edu	37	2	191862974	191862974	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:191862974T>A	uc010fse.2	-	6	1034	c.602A>T	c.(601-603)aAg>aTg	p.K201M	STAT1_uc021vue.1_Intron|STAT1_uc002usj.2_Missense_Mutation_p.K201M|STAT1_uc002usk.2_Missense_Mutation_p.K201M|STAT1_uc002usl.2_Missense_Mutation_p.K203M|STAT1_uc010fsf.1_Intron	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	201					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.K201M(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TAAATACATCTTCTTGAGTAA	0.338													A	191862974	T	A	191862974	3	1	38	1	0	0	0	0	1	0	0	0	15263	1609	56	5	1726	5	STAT1	2	191862974	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	12407621	191862974	51336399	16	2288											
COL6A3	1293	broad.mit.edu	37	2	238283533	238283533	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:238283533C>T	uc002vwl.2	-	7	3486	c.3201G>A	c.(3199-3201)gtG>gtA	p.V1067V	COL6A3_uc002vwo.2_Silent_p.V861V|COL6A3_uc010znj.1_Silent_p.V460V|COL6A3_uc002vwq.3_Silent_p.V861V|COL6A3_uc002vwr.3_Silent_p.V660V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1067	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		GCACCACGGCCACGCGGACCC	0.602													T	238283533	C	T	238283533	2	4	38	1	0	0	0	0	0	0	0	1	3701	581	21	3		3	COL6A3	2	238283533	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	46420559	238283533	4915840	17	2289											
FBLN2	2199	broad.mit.edu	37	3	13679197	13679197	+	Silent	SNP	C	C	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:13679197C>A	uc011avc.2	+	17	3856	c.3474C>A	c.(3472-3474)gcC>gcA	p.A1158A	FBLN2_uc011auz.2_Silent_p.A1137A|FBLN2_uc011avb.2_Silent_p.A1111A|FBLN2_uc011ava.2_Silent_p.A1158A	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1111	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCGCCAGCCTTCACGGGGG	0.622													A	13679197	C	A	13679197	2	1	38	1	0	0	0	0	0	0	0	1	5699	668	24	5		5	FBLN2	3	13679197	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08		13679197	184343233	18	2290											
C3orf67	200844	broad.mit.edu	37	3	58849423	58849423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:58849423C>T	uc003dkt.1	-	11	1488	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	C3orf67_uc003dks.1_Missense_Mutation_p.R175Q|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.R175Q|C3orf67_uc003dkw.3_Missense_Mutation_p.R255Q	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	360										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGGTGCTGATCGTGGTCTTGA	0.473													T	58849423	C	T	58849423	3	4	38	1	0	0	0	0	1	0	0	0	2241	884	31	2	632	2	C3orf67	3	58849423	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	45170226	58849423	139173007	19	2291											
IQCB1	9657	broad.mit.edu	37	3	121489274	121489274	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:121489274G>A	uc010hre.1	-	14	1930	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	IQCB1_uc010hrf.1_Non-coding_Transcript|IQCB1_uc003eek.2_Missense_Mutation_p.S439F	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.	572					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CTCATCTCCAGATTCTTCTCC	0.448													A	121489274	G	A	121489274	3	1	38	1	0	0	0	0	1	0	0	0	7803	942	33	3	85	3	IQCB1	3	121489274	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	62639851	121489274	76533156	20	2292											
AMOTL2	51421	broad.mit.edu	37	3	134080563	134080563	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:134080563C>T	uc003eqf.2	-	5	1657	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	456										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCAGCTCGGCACGCCGC	0.652													T	134080563	C	T	134080563	3	4	38	1	0	0	0	0	1	0	0	0	584	893	31	2	996	2	AMOTL2	3	134080563	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	12591289	134080563	63941867	21	2293											
EPHB1	2047	broad.mit.edu	37	3	134920443	134920443	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:134920443A>G	uc003eqt.3	+	11	2633	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	EPHB1_uc003equ.3_Missense_Mutation_p.N314S	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	753	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.N753S(2)|p.N753N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATTCTGGTCAACAGTAACCTG	0.552													G	134920443	A	G	134920443	3	3	38	1	0	0	0	0	1	0	0	0	5174	43	2	4	2304	4	EPHB1	3	134920443	Missense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	839880	134920443	63101987	22	2294											
TRIM59	286827	broad.mit.edu	37	3	160156161	160156161	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:160156161C>T	uc003fdm.3	-	2	1006	c.811G>A	c.(811-813)Gag>Aag	p.E271K	IFT80_uc003fda.3_Non-coding_Transcript|TRIM59_uc021xgt.1_Missense_Mutation_p.E271K	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Homo sapiens tripartite motif containing 59 (TRIM59), mRNA.	271						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGTTGAACCTCAGGAAGTGGT	0.363													T	160156161	C	T	160156161	3	4	38	1	0	0	0	0	1	0	0	0	16529	835	29	3	404	3	TRIM59	3	160156161	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	25235718	160156161	37866269	23	2295											
SPATA5	166378	broad.mit.edu	37	4	123868606	123868606	+	Silent	SNP	C	C	T	rs139834687	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:123868606C>T	uc003iez.4	+	8	1750	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y	SPATA5_uc003iey.3_Silent_p.Y558Y	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	559					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.Y559Y(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CTCATGGATACGTTGGAGCAG	0.468													T	123868606	C	T	123868606	2	4	38	1	0	0	0	0	0	0	0	1	15010	547	19	1		1	SPATA5	4	123868606	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08		123868606	67285670	24	2296											
PHF17	79960	broad.mit.edu	37	4	129770286	129770286	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:129770286T>A	uc011cgy.2	+	4	762	c.448T>A	c.(448-450)Tgg>Agg	p.W150R	PHF17_uc003igj.3_Missense_Mutation_p.W150R|PHF17_uc003igk.3_Missense_Mutation_p.W150R|PHF17_uc003igl.3_Missense_Mutation_p.W138R|PHF17_uc003igm.3_Missense_Mutation_p.W150R	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	150					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGATGCTGCATGGCTGGAACT	0.468													A	129770286	T	A	129770286	3	1	38	1	0	0	0	0	1	0	0	0	11828	1464	51	5	462	5	PHF17	4	129770286	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	5901680	129770286	61383990	25	2297											
FNIP2	57600	broad.mit.edu	37	4	159789510	159789510	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:159789510C>T	uc003iqe.4	+	12	1905	c.1722C>T	c.(1720-1722)aaC>aaT	p.N574N		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	574	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGGTGAGGAACGAGCCCGCTC	0.537													T	159789510	C	T	159789510	2	4	38	1	0	0	0	0	0	0	0	1	5976	535	19	1		1	FNIP2	4	159789510	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	30019224	159789510	31364766	26	2298											
HEATR7B2	133558	broad.mit.edu	37	5	41052628	41052628	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:41052628C>T	uc003jmj.4	-	11	1659	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	390							binding	p.R390L(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCATCCTTCCCGAGCTTCAAT	0.393													T	41052628	C	T	41052628	3	4	38	1	0	0	0	0	1	0	0	0	7035	652	23	2	3712	2	HEATR7B2	5	41052628	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		41052628	139862632	27	2299											
TRPC7	57113	broad.mit.edu	37	5	135692669	135692669	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:135692669C>T	uc003lbn.2	-	1	629	c.407G>A	c.(406-408)cGc>cAc	p.R136H	TRPC7_uc010jef.2_Missense_Mutation_p.R127H|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R136H|TRPC7_uc010jei.2_Missense_Mutation_p.R136H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	136					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCGTCAGGCGCTGGCCCTG	0.672													T	135692669	C	T	135692669	3	4	38	1	0	0	0	0	1	0	0	0	16581	768	27	1	2225	1	TRPC7	5	135692669	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	94640041	135692669	45222591	28	2300											
UNC5A	90249	broad.mit.edu	37	5	176304269	176304269	+	Silent	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:176304269G>A	uc003mey.3	+	8	1647	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	485	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|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)			TGCACAAGCCGGAAGACGTGA	0.652													A	176304269	G	A	176304269	2	1	38	1	0	0	0	0	0	0	0	1	16988	1103	39	2		2	UNC5A	5	176304269	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08	40611600	176304269	4610991	29	2301											
ATXN1	6310	broad.mit.edu	37	6	16306892	16306892	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:16306892C>T	uc003nbt.3	-	8	3087	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	ATXN1_uc010jpi.3_Missense_Mutation_p.V706I|ATXN1_uc010jpj.1_Non-coding_Transcript	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	706	Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCAGCAGGACGCTGGCGGGA	0.582													T	16306892	C	T	16306892	3	4	38	1	0	0	0	0	1	0	0	0	1209	536	19	1	335	1	ATXN1	6	16306892	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		16306892	154808175	30	2302											
MICB	4277	broad.mit.edu	37	6	31474865	31474865	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:31474865C>T	uc003ntn.4	+	3	796	c.680C>T	c.(679-681)gCt>gTt	p.A227V	MICB_uc011dnm.2_Missense_Mutation_p.A195V|MICB_uc021yuq.1_Missense_Mutation_p.A195V|MICB_uc003nto.4_Missense_Mutation_p.A184V	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	227	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACATGCAGGGCTTCCAGCTTC	0.587													T	31474865	C	T	31474865	3	4	38	1	0	0	0	0	1	0	0	0	9575	797	28	3	694	3	MICB	6	31474865	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	15167973	31474865	139640202	31	2303											
KATNA1	11104	broad.mit.edu	37	6	149918283	149918283	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:149918283A>C	uc003qmr.2	-	8	1238	c.1193T>G	c.(1192-1194)tTg>tGg	p.L398W	KATNA1_uc003qms.3_Missense_Mutation_p.L398W|KATNA1_uc003qmt.3_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	Homo sapiens katanin p60 (ATPase containing) subunit A 1 (KATNA1), transcript variant 1, mRNA.	398					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCCAATTCCAACTCACGTAG	0.388													C	149918283	A	C	149918283	3	2	38	1	0	0	0	0	1	0	0	0	7984	131	5	5	290	5	KATNA1	6	149918283	Missense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	118443418	149918283	21196784	32	2304											
SYTL3	94120	broad.mit.edu	37	6	159178400	159178400	+	Missense_Mutation	SNP	C	C	T	rs147104644		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:159178400C>T	uc003qrp.3	+	14	1694	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L	SYTL3_uc003qrr.3_Missense_Mutation_p.P432L|SYTL3_uc003qro.3_Missense_Mutation_p.P364L|SYTL3_uc003qrs.3_Missense_Mutation_p.P364L|SYTL3_uc011efq.2_Missense_Mutation_p.P158L	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	432					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGCTGGCATCCGCTCCGGGCC	0.527													T	159178400	C	T	159178400	3	4	38	1	0	0	0	0	1	0	0	0	15481	652	23	2	1125	2	SYTL3	6	159178400	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	9260117	159178400	11936667	33	2305											
MLLT4	4301	broad.mit.edu	37	6	168363130	168363130	+	Silent	SNP	G	G	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:168363130G>C	uc021zik.1	+	29	5020	c.4701G>C	c.(4699-4701)cgG>cgC	p.R1567R	MLLT4_uc003qwc.2_Silent_p.R1608R|MLLT4_uc021zij.1_Silent_p.R1593R|MLLT4_uc021zim.1_Silent_p.R1167R|MLLT4_uc003qwg.1_Silent_p.R919R|MLLT4_uc021zin.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1610					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACGAGGAGCGGAGGCGGCAGC	0.547			T	MLL	AL								C	168363130	G	C	168363130	2	2	38	1	0	0	0	0	0	0	0	1	9629	1161	41	5		5	MLLT4	6	168363130	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08	9184730	168363130	2751937	34	2306											
MLLT4	4301	broad.mit.edu	37	6	168363191	168363191	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:168363191G>C	uc021zik.1	+	29	5081	c.4762G>C	c.(4762-4764)Gag>Cag	p.E1588Q	MLLT4_uc003qwc.2_Missense_Mutation_p.E1629Q|MLLT4_uc021zij.1_Missense_Mutation_p.E1614Q|MLLT4_uc021zim.1_Missense_Mutation_p.E1188Q|MLLT4_uc003qwg.1_Missense_Mutation_p.E940Q|MLLT4_uc021zin.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1631	Asp/Glu-rich (acidic).				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGCGAGGCAAGAGGAAGAGCG	0.542			T	MLL	AL								C	168363191	G	C	168363191	3	2	38	1	0	0	0	0	1	0	0	0	9629	943	33	5	5121	5	MLLT4	6	168363191	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	61	168363191	2751876	35	2307											
ABCB5	340273	broad.mit.edu	37	7	20689724	20689724	+	Translation_Start_Site	SNP	C	C	T	rs144527025	by1000genomes	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:20689724C>T	uc010kuh.3	+	11	1523	c.1286C>T	c.(1285-1287)aCg>aTg	p.T429M	ABCB5_uc003suw.4_5'UTR|ABCB5_uc003suv.4_5'UTR|ABCB5_uc011jyi.1_5'UTR	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	613	ABC transmembrane type-1.				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			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						GGGAAGAGTACGGTAGTCCAG	0.468													T	20689724	C	T	20689724	1	4	38	1	0	0	0	0	0	0	0	0	44	536	19	1		1	ABCB5	7	20689724	Translation_Start_Site	SNP	C	TCGA-06-0185-01A-01W-0254-08		20689724	138448939	36	2308											
EGFR	1956	broad.mit.edu	37	7	55240707	55240707	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:55240707G>A	uc003tqk.3	+	16	2197	c.1951G>A	c.(1951-1953)Gtg>Atg	p.V651M	EGFR_uc022adm.1_Missense_Mutation_p.V651M|EGFR_uc010kzg.2_Missense_Mutation_p.V606M|EGFR_uc022adn.1_Missense_Mutation_p.V606M|EGFR_uc011kco.2_Missense_Mutation_p.V598M	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	651					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V651M(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACTGGGATGGTGGGGGCCCT	0.622		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55240707	G	A	55240707	3	1	38	1	0	0	0	0	1	0	0	0	4967	1261	44	3	2281	3	EGFR	7	55240707	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	34550983	55240707	103897956	37	2309											
SEPT14	346288	broad.mit.edu	37	7	55874788	55874788	+	Silent	SNP	T	T	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:55874788T>A	uc003tqz.2	-	7	1098	c.981A>T	c.(979-981)ccA>ccT	p.P327P		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	327					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCACCTAACTGGCTGGTTGT	0.348													A	55874788	T	A	55874788	2	1	38	1	0	0	0	0	0	0	0	1	14063	1567	55	5		5	SEPT14	7	55874788	Silent	SNP	T	TCGA-06-0185-01A-01W-0254-08	634081	55874788	103263875	38	2310											
DYNC1I1	1780	broad.mit.edu	37	7	95499217	95499217	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:95499217G>A	uc003uoc.4	+	5	725	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	DYNC1I1_uc003uod.4_Missense_Mutation_p.V133M|DYNC1I1_uc003uob.3_Missense_Mutation_p.V113M|DYNC1I1_uc003uoe.4_Missense_Mutation_p.V130M|DYNC1I1_uc010lfl.3_Missense_Mutation_p.V139M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	150					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TAAACTGGGCGTGTCAAAGGT	0.453													A	95499217	G	A	95499217	3	1	38	1	0	0	0	0	1	0	0	0	4842	1145	40	1	466	1	DYNC1I1	7	95499217	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	39624429	95499217	63639446	39	2311											
RABL5	64792	broad.mit.edu	37	7	100959700	100959700	+	Silent	SNP	C	C	T	rs145991606	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:100959700C>T	uc003uyl.3	-	3	433	c.330G>A	c.(328-330)ccG>ccA	p.P110P	RABL5_uc011kkk.2_Silent_p.P33P|RABL5_uc011kkl.2_Silent_p.P33P|RABL5_uc003uym.3_Silent_p.P80P|RABL5_uc010lhw.3_Non-coding_Transcript|RABL5_uc011kkm.2_Silent_p.P110P	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN	Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.	110							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CCTGTAAGGACGGCTGTTGGA	0.473													T	100959700	C	T	100959700	2	4	38	1	0	0	0	0	0	0	0	1	12973	523	19	1		1	RABL5	7	100959700	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	5460483	100959700	58178963	40	2312											
LAMB4	22798	broad.mit.edu	37	7	107671256	107671256	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:107671256C>T	uc010ljo.1	-	31	5071	c.4987G>A	c.(4987-4989)Gag>Aag	p.E1663K	LAMB4_uc003vey.2_Missense_Mutation_p.E1663K|LAMB4_uc010ljp.1_Missense_Mutation_p.E632K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1663	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGACCTTCTCAAGACTCCCA	0.473													T	107671256	C	T	107671256	3	4	38	1	0	0	0	0	1	0	0	0	8613	835	29	3	310	3	LAMB4	7	107671256	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	6711556	107671256	51467407	41	2313											
BRAF	673	broad.mit.edu	37	7	140453148	140453148	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:140453148C>T	uc003vwc.4	-	14	1848	c.1787G>A	c.(1786-1788)gGt>gAt	p.G596D		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	596	Protein kinase.		G -> R (in a colorectal adenocarcinoma sample; somatic mutation).|G -> V (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.F595L(8)|p.G596R(6)|p.G596D(4)|p.F595S(3)|p.G596fs*2(1)|p.D594_T599del(1)|p.G596S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTAGCTAGACCAAAATCACC	0.388		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453148	C	T	140453148	3	4	38	1	0	0	0	0	1	0	0	0	1496	507	18	3	529	3	BRAF	7	140453148	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	32781892	140453148	18685515	42	2314											
ADAM9	8754	broad.mit.edu	37	8	38873654	38873654	+	Silent	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:38873654G>A	uc003xmr.3	+	4	429	c.351G>A	c.(349-351)cgG>cgA	p.R117R	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	117				Missing (in Ref. 2; no nucleotide entry).|R -> Q (in Ref. 4; BAA03499).	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.R117L(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)			GTCATTATCGGGGCTATGTGG	0.338													A	38873654	G	A	38873654	2	1	38	1	0	0	0	0	0	0	0	1	253	1219	43	3		3	ADAM9	8	38873654	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08		38873654	107490368	43	2315											
RP1	6101	broad.mit.edu	37	8	55539225	55539225	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:55539225C>A	uc003xsd.1	+	3	2931	c.2783C>A	c.(2782-2784)aCt>aAt	p.T928N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	928					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			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)			CCATATCCAACTTTAAAGCCT	0.328													A	55539225	C	A	55539225	3	1	38	1	0	0	0	0	1	0	0	0	13532	565	20	5	2793	5	RP1	8	55539225	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	16665571	55539225	90824797	44	2316											
RALYL	138046	broad.mit.edu	37	8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:85774590G>A	uc003yct.4	+	5	646	c.512G>A	c.(511-513)cGt>cAt	p.R171H	RALYL_uc003ycq.4_Missense_Mutation_p.R158H|RALYL_uc003ycr.4_Missense_Mutation_p.R158H|RALYL_uc003ycs.4_Missense_Mutation_p.R158H|RALYL_uc010lzy.3_Missense_Mutation_p.R147H|RALYL_uc003ycu.4_Missense_Mutation_p.R85H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	158							identical protein binding|nucleotide binding|RNA binding	p.G171*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507													A	85774590	G	A	85774590	3	1	38	1	0	0	0	0	1	0	0	0	13020	1145	40	1	534	1	RALYL	8	85774590	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	30235365	85774590	60589432	45	2317											
COL22A1	169044	broad.mit.edu	37	8	139856384	139856384	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:139856384C>T	uc003yvd.3	-	3	1123	c.676G>A	c.(676-678)Gtt>Att	p.V226I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	226					cell adhesion	collagen|cytoplasm	structural molecule activity			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)			TCTACACGAACGCTAGGACAG	0.463										HNSCC(7;0.00092)			T	139856384	C	T	139856384	3	4	38	1	0	0	0	0	1	0	0	0	3681	536	19	1	4452	1	COL22A1	8	139856384	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	54081794	139856384	6507638	46	2318											
C9orf131	138724	broad.mit.edu	37	9	35043416	35043416	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35043416G>A	uc003zvw.3	+	1	819	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	C9orf131_uc003zvu.3_Missense_Mutation_p.E216K|C9orf131_uc003zvv.3_Missense_Mutation_p.E191K|C9orf131_uc003zvx.3_Missense_Mutation_p.E229K	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	264										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGAAGATCTAGAAGGGATGGC	0.547													A	35043416	G	A	35043416	3	1	38	1	0	0	0	0	1	0	0	0	2457	943	33	3	812	3	C9orf131	9	35043416	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		35043416	106170015	47	2319											
C9orf131	138724	broad.mit.edu	37	9	35043985	35043985	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35043985G>C	uc003zvw.3	+	1	1388	c.1359G>C	c.(1357-1359)tgG>tgC	p.W453C	C9orf131_uc003zvu.3_Missense_Mutation_p.W405C|C9orf131_uc003zvv.3_Missense_Mutation_p.W380C|C9orf131_uc003zvx.3_Missense_Mutation_p.W418C	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	453										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGACACCATGGAAGGGCATGC	0.542													C	35043985	G	C	35043985	3	2	38	1	0	0	0	0	1	0	0	0	2457	1183	41	5	1381	5	C9orf131	9	35043985	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	569	35043985	106169446	48	2320											
RUSC2	9853	broad.mit.edu	37	9	35548294	35548294	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35548294C>A	uc003zww.3	+	1	2031	c.1776C>A	c.(1774-1776)tgC>tgA	p.C592*	RUSC2_uc010mkq.3_Intron|RUSC2_uc003zwx.4_Nonsense_Mutation_p.C592*	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	592						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGCACTTGCTGTAGCCATA	0.637													A	35548294	C	A	35548294	4	1	38	1	0	0	0	0	0	1	0	0	13751	805	28	5	1778	5	RUSC2	9	35548294	Nonsense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	504309	35548294	105665137	49	2321											
EXOSC3	51010	broad.mit.edu	37	9	37785036	37785036	+	Silent	SNP	G	G	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:37785036G>T	uc004aal.2	-	0	32	c.6C>A	c.(4-6)gcC>gcA	p.A2A	EXOSC3_uc010mly.1_Silent_p.A2A|EXOSC3_uc004aam.2_Silent_p.A2A	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN	Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA.	2					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		ACGCAGGTTCGGCCATCGCGG	0.662													T	37785036	G	T	37785036	2	4	38	1	0	0	0	0	0	0	0	1	5316	1103	39	5		5	EXOSC3	9	37785036	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08	2236742	37785036	103428395	50	2322											
OR13F1	138805	broad.mit.edu	37	9	107266629	107266629	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:107266629C>T	uc011lvm.2	+	0	86	c.86C>T	c.(85-87)gCg>gTg	p.A29V		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A29A(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCATATTTGCGGTGTGCTTG	0.418													T	107266629	C	T	107266629	3	4	38	1	0	0	0	0	1	0	0	0	10941	768	27	1	88	1	OR13F1	9	107266629	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	69481593	107266629	33946802	51	2323											
MUC5B	727897	broad.mit.edu	37	11	1267649	1267649	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:1267649C>T	uc001lta.3	+	30	9598	c.9539C>T	c.(9538-9540)aCg>aTg	p.T3180M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3180	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCGGATCCACGGCCACCGCC	0.687													T	1267649	C	T	1267649	3	4	38	1	0	0	0	0	1	0	0	0	9979	536	19	1	9670	1	MUC5B	11	1267649	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		1267649	133738867	52	2324											
LRRC55	219527	broad.mit.edu	37	11	56949722	56949722	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:56949722C>T	uc001njl.2	+	0	502	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	89						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCCCACAACCGCATCACAGC	0.597													T	56949722	C	T	56949722	3	4	38	1	0	0	0	0	1	0	0	0	9011	652	23	2	357	2	LRRC55	11	56949722	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	55682073	56949722	78056794	53	2325											
AHNAK	79026	broad.mit.edu	37	11	62301253	62301253	+	Silent	SNP	C	C	T	rs141489091	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:62301253C>T	uc001ntl.3	-	4	936	c.636G>A	c.(634-636)tcG>tcA	p.S212S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	212					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGCTGCCCCCGAGCCCGAGG	0.562													T	62301253	C	T	62301253	2	4	38	1	0	0	0	0	0	0	0	1	414	639	23	2		2	AHNAK	11	62301253	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	5351531	62301253	72705263	54	2326											
SNX15	29907	broad.mit.edu	37	11	64800008	64800008	+	Missense_Mutation	SNP	C	C	T	rs142024969	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:64800008C>T	uc001oci.4	+	5	895	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	SNX15_uc001ock.3_Missense_Mutation_p.R81W	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	81	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCTTTCCCCCGGGCCCAGGT	0.627													T	64800008	C	T	64800008	3	4	38	1	0	0	0	0	1	0	0	0	14886	643	23	2	251	2	SNX15	11	64800008	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	2498755	64800008	70206508	55	2327											
HSPB2	3316	broad.mit.edu	37	11	111784541	111784541	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:111784541C>T	uc001pmg.2	+	1	565	c.471C>T	c.(469-471)gtC>gtT	p.V157V	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_Non-coding_Transcript|C11orf52_uc001pmh.3_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	Homo sapiens heat shock 27kDa protein 2 (HSPB2), mRNA.	157					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		ACACAGAGGTCAATGAGGTCT	0.592													T	111784541	C	T	111784541	2	4	38	1	0	0	0	0	0	0	0	1	7420	813	29	3		3	HSPB2	11	111784541	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	46984533	111784541	23221975	56	2328											
PDZD3	79849	broad.mit.edu	37	11	119059718	119059718	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:119059718C>T	uc001pwb.3	+	7	2014	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I	PDZD3_uc001pvz.3_Missense_Mutation_p.T431I|PDZD3_uc010rzd.2_Missense_Mutation_p.T418I|PDZD3_uc001pvy.3_Missense_Mutation_p.T417I|PDZD3_uc001pwa.3_Missense_Mutation_p.T127I			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	497	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CACCAGGTGACTCCAGGAGGC	0.602													T	119059718	C	T	119059718	3	4	38	1	0	0	0	0	1	0	0	0	11702	565	20	3	1330	3	PDZD3	11	119059718	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	7275177	119059718	15946798	57	2329											
VSIG2	23584	broad.mit.edu	37	11	124620786	124620786	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:124620786G>A	uc001qas.3	-	2	327	c.251C>T	c.(250-252)cCa>cTa	p.P84L	VSIG2_uc001qat.3_Missense_Mutation_p.P84L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	84	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGAACCAGTTGGATACAGATG	0.537													A	124620786	G	A	124620786	3	1	38	1	0	0	0	0	1	0	0	0	17221	1348	47	3	752	3	VSIG2	11	124620786	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	5561068	124620786	10385730	58	2330											
SLC6A13	6540	broad.mit.edu	37	12	333649	333649	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:333649C>T	uc001qic.2	-	9	1181	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SLC6A13_uc009zdj.2_Missense_Mutation_p.R354Q|SLC6A13_uc010sdl.2_Missense_Mutation_p.R272Q	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	364					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCACAGCCCGCGGGTAAGC	0.617													T	333649	C	T	333649	3	4	38	1	0	0	0	0	1	0	0	0	14676	652	23	2	741	2	SLC6A13	12	333649	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		333649	133518246	59	2331											
TMTC1	83857	broad.mit.edu	37	12	29786150	29786150	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:29786150C>T	uc021qwi.1	-	5	1117	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	TMTC1_uc001riz.3_Missense_Mutation_p.R2Q|TMTC1_uc001rja.3_Missense_Mutation_p.R89Q|TMTC1_uc001rjb.3_Missense_Mutation_p.R245Q|TMTC1_uc001rjc.1_Missense_Mutation_p.R307Q	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	353						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGCTAAGTTCCGCATGTCCCA	0.498													T	29786150	C	T	29786150	3	4	38	1	0	0	0	0	1	0	0	0	16257	652	23	2	1642	2	TMTC1	12	29786150	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	29452501	29786150	104065745	60	2332											
ARHGAP9	64333	broad.mit.edu	37	12	57872982	57872982	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:57872982G>A	uc001sod.3	-	4	614	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.P70S|ARHGAP9_uc001soc.3_Missense_Mutation_p.P70S|ARHGAP9_uc001soe.1_Missense_Mutation_p.P149S|ARHGAP9_uc010sro.1_Missense_Mutation_p.P70S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	70					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GAGGTGGAGGGAGCTTCTAGG	0.567													A	57872982	G	A	57872982	3	1	38	1	0	0	0	0	1	0	0	0	889	1174	41	3	2055	3	ARHGAP9	12	57872982	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	28086832	57872982	75978913	61	2333											
NTN4	59277	broad.mit.edu	37	12	96180812	96180812	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:96180812A>G	uc001tei.3	-	1	939	c.490T>C	c.(490-492)Tgc>Cgc	p.C164R	NTN4_uc009ztf.3_Missense_Mutation_p.C164R|NTN4_uc009ztg.3_Missense_Mutation_p.C127R	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	164	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTAGCGGAGCAGTTAGTCGCA	0.493													G	96180812	A	G	96180812	3	3	38	1	0	0	0	0	1	0	0	0	10702	188	7	4	1432	4	NTN4	12	96180812	Missense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	38307830	96180812	37671083	62	2334											
UNC119B	84747	broad.mit.edu	37	12	121154526	121154526	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:121154526C>T	uc001tyz.3	+	2	901	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	152										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTCCGCCTCCGGACAGTCGG	0.532													T	121154526	C	T	121154526	3	4	38	1	0	0	0	0	1	0	0	0	16980	643	23	2	464	2	UNC119B	12	121154526	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	24973714	121154526	12697369	63	2335											
KBTBD6	89890	broad.mit.edu	37	13	41705381	41705381	+	Silent	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr13:41705381G>A	uc001uxu.1	-	0	1556	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	423							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCACGACACAGCAAGCGATCT	0.493													A	41705381	G	A	41705381	2	1	38	1	0	0	0	0	0	0	0	1	7997	962	34	3		3	KBTBD6	13	41705381	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08		41705381	73464497	64	2336											
C15orf52	388115	broad.mit.edu	37	15	40630791	40630791	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:40630791C>T	uc001zlh.4	-	4	606	c.590G>A	c.(589-591)cGt>cAt	p.R197H	C15orf52_uc001zli.1_Missense_Mutation_p.R129H|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	197										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCGGGTCACACGCCCTCCAGG	0.577											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40630791	C	T	40630791	3	4	38	1	0	0	0	0	1	0	0	0	1800	536	19	1	1042	1	C15orf52	15	40630791	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		40630791	61900601	65	2337											
TP53BP1	7158	broad.mit.edu	37	15	43773221	43773221	+	Splice_Site	SNP	C	C	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:43773221C>G	uc001zrs.3	-	5	505	c.357_splice	c.e5-1	p.S119_splice	TP53BP1_uc010udp.2_Splice_Site_p.S119_splice|TP53BP1_uc001zrq.4_Splice_Site_p.S124_splice|TP53BP1_uc001zrr.4_Splice_Site_p.S124_splice|TP53BP1_uc010udq.1_Splice_Site_p.S124_splice	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	119					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCCAGAACACTACACAGCAG	0.458								Other conserved DNA damage response genes					G	43773221	C	G	43773221	5	3	38	1	0	0	0	0	0	0	1	0	16380	579	20	5	5658	5	TP53BP1	15	43773221	Splice_Site	SNP	C	TCGA-06-0185-01A-01W-0254-08	3142430	43773221	58758171	66	2338											
GCOM1	145781	broad.mit.edu	37	15	58006757	58006757	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:58006757G>A	uc002aeo.3	+	12	1459	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	GCOM1_uc002aem.3_Silent_p.A511A|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aes.3_Silent_p.A98A|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Silent_p.A329A|GCOM1_uc002aeu.4_Silent_p.A172A	NM_001018091	NP_001018101	P0CAP1	GCOM1_HUMAN	Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 2, mRNA.	51					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		p.A329A(1)|p.A511A(1)		endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGCTCGCAGCGCAAAAATTAG	0.398													A	58006757	G	A	58006757	3	1	38	1	0	0	0	0	1	0	0	0	6304	1087	38	1	1688	1	GCOM1	15	58006757	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	14233536	58006757	44524635	67	2339											
ZSCAN10	84891	broad.mit.edu	37	16	3140535	3140535	+	Silent	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:3140535C>T	uc002ctv.1	-	4	823	c.735G>A	c.(733-735)ccG>ccA	p.P245P	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.P163P|ZSCAN10_uc002ctx.1_Silent_p.P173P	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	245					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602													T	3140535	C	T	3140535	2	4	38	1	0	0	0	0	0	0	0	1	18224	639	23	2		2	ZSCAN10	16	3140535	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08		3140535	87214218	68	2340											
MYH11	4629	broad.mit.edu	37	16	15818586	15818586	+	Missense_Mutation	SNP	C	C	T	rs150883363		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:15818586C>T	uc002ddx.3	-	30	4162	c.4055G>A	c.(4054-4056)cGg>cAg	p.R1352Q	MYH11_uc002ddv.3_Missense_Mutation_p.R1352Q|MYH11_uc002ddw.3_Missense_Mutation_p.R1345Q|MYH11_uc002ddy.3_Missense_Mutation_p.R1345Q|MYH11_uc010bvg.3_Missense_Mutation_p.R1177Q|NDE1_uc010uzy.2_3'UTR|NDE1_uc002dds.3_3'UTR|MYH11_uc010bvh.3_Missense_Mutation_p.R51Q|NDE1_uc002ddz.1_Non-coding_Transcript	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1345					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGGCTGTTCCGCTCCTCCTC	0.597			T	CBFB	AML								T	15818586	C	T	15818586	3	4	38	1	0	0	0	0	1	0	0	0	10031	652	23	2	1967	2	MYH11	16	15818586	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	12678051	15818586	74536167	69	2341											
PRKCB	5579	broad.mit.edu	37	16	24231309	24231309	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:24231309G>A	uc002dmd.3	+	16	2088	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	PRKCB_uc002dme.3_3'UTR	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	631	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTCCAACTTCGACAAAGAGTT	0.433													A	24231309	G	A	24231309	3	1	38	1	0	0	0	0	1	0	0	0	12508	1058	37	2	2120	2	PRKCB	16	24231309	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	8412723	24231309	66123444	70	2342											
CHD9	80205	broad.mit.edu	37	16	53337775	53337775	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:53337775C>T	uc002ehb.3	+	29	6021	c.5857C>T	c.(5857-5859)Cca>Tca	p.P1953S	CHD9_uc002egy.3_Missense_Mutation_p.P1953S|CHD9_uc002ehc.3_Missense_Mutation_p.P1953S|CHD9_uc002ehf.3_Missense_Mutation_p.P1067S|CHD9_uc002ehg.2_Missense_Mutation_p.P1067S|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1953					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCTTTGCCATCCAAATCCAGA	0.478													T	53337775	C	T	53337775	3	4	38	1	0	0	0	0	1	0	0	0	3332	855	30	3	5975	3	CHD9	16	53337775	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	29106466	53337775	37016978	71	2343											
ASGR2	433	broad.mit.edu	37	17	7005462	7005462	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr17:7005462G>T	uc002gep.3	-	7	984	c.717C>A	c.(715-717)gaC>gaA	p.D239E	ASGR2_uc002gen.1_Missense_Mutation_p.D220E|ASGR2_uc002geo.2_Missense_Mutation_p.D234E|ASGR2_uc002geq.3_Missense_Mutation_p.D215E|ASGR2_uc002ger.3_Missense_Mutation_p.D239E	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	239	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	p.T238>?(1)|p.T238T(1)|p.T238A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGCCATCACTGTCCGTGAGAC	0.458													T	7005462	G	T	7005462	3	4	38	1	0	0	0	0	1	0	0	0	1040	1368	48	5	226	5	ASGR2	17	7005462	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		7005462	74189748	72	2344											
KIF19	124602	broad.mit.edu	37	17	72346919	72346919	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr17:72346919G>A	uc002jkm.4	+	11	1600	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	KIF19_uc002jkj.2_Missense_Mutation_p.D488N|KIF19_uc002jkk.2_Missense_Mutation_p.D446N|KIF19_uc002jkl.2_Missense_Mutation_p.D446N	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	488					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGCTAAGGACGACAGCGAGAA	0.637													A	72346919	G	A	72346919	3	1	38	1	0	0	0	0	1	0	0	0	8282	1058	37	2	1508	2	KIF19	17	72346919	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	65341457	72346919	8848291	73	2345											
DSG3	1830	broad.mit.edu	37	18	29056162	29056162	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr18:29056162C>T	uc002kws.3	+	15	3048	c.2939C>T	c.(2938-2940)aCg>aTg	p.T980M	DSG3_uc002kwt.3_Missense_Mutation_p.T262M	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	980					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTGGCCCAACGCAGCTACGA	0.488													T	29056162	C	T	29056162	3	4	38	1	0	0	0	0	1	0	0	0	4778	536	19	1	3001	1	DSG3	18	29056162	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		29056162	49021086	74	2346											
ZBTB7C	201501	broad.mit.edu	37	18	45567452	45567452	+	Silent	SNP	A	A	G			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr18:45567452A>G	uc010dnv.3	-	2	529	c.93T>C	c.(91-93)atT>atC	p.I31I	ZBTB7C_uc002ldb.3_Silent_p.I9I|ZBTB7C_uc010dnu.3_Silent_p.I18I|ZBTB7C_uc010dnw.3_Silent_p.I9I|ZBTB7C_uc010dnx.1_Silent_p.I9I|ZBTB7C_uc010dny.1_Silent_p.I9I|ZBTB7C_uc010dnz.1_Silent_p.I31I|ZBTB7C_uc010doi.1_Silent_p.I9I|ZBTB7C_uc010doj.1_Silent_p.I18I|ZBTB7C_uc010dok.1_Silent_p.I58I|ZBTB7C_uc010dol.1_Silent_p.I18I|ZBTB7C_uc010doa.1_Silent_p.I31I|ZBTB7C_uc010dob.1_Silent_p.I9I|ZBTB7C_uc010doc.1_Silent_p.I18I|ZBTB7C_uc010dod.1_Silent_p.I31I|ZBTB7C_uc010doe.1_Silent_p.I9I|ZBTB7C_uc010dof.1_Silent_p.I9I|ZBTB7C_uc010dog.1_Silent_p.I9I|ZBTB7C_uc010doh.1_Silent_p.I18I|ZBTB7C_uc010dom.1_Silent_p.I18I|ZBTB7C_uc010don.1_Silent_p.I17I|ZBTB7C_uc010dop.1_Silent_p.I9I|ZBTB7C_uc010doq.1_Silent_p.I18I|ZBTB7C_uc010dor.1_Silent_p.I31I|ZBTB7C_uc010dos.1_Silent_p.I9I|ZBTB7C_uc010dot.1_Silent_p.I9I|ZBTB7C_uc010doo.1_Silent_p.I9I|ZBTB7C_uc010dou.1_Silent_p.I18I	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	9						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGGAATGCCAATGAGCTCAT	0.582													G	45567452	A	G	45567452	2	3	38	1	0	0	0	0	0	0	0	1	17552	126	5	4		4	ZBTB7C	18	45567452	Silent	SNP	A	TCGA-06-0185-01A-01W-0254-08	16511290	45567452	32509796	75	2347											
CHAF1A	10036	broad.mit.edu	37	19	4409752	4409752	+	Missense_Mutation	SNP	G	G	A	rs112018734		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:4409752G>A	uc002mal.3	+	2	1056	c.956G>A	c.(955-957)cGc>cAc	p.R319H		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	319					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCCCTCCGCAGAGTGAGT	0.627								Chromatin Structure					A	4409752	G	A	4409752	3	1	38	1	0	0	0	0	1	0	0	0	3311	1087	38	1	966	1	CHAF1A	19	4409752	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		4409752	54719231	76	2348											
PAPL	390928	broad.mit.edu	37	19	39589268	39589268	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:39589268C>T	uc002oki.3	+	2	566	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	PAPL_uc010egl.3_Missense_Mutation_p.L98F	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	98						extracellular region	acid phosphatase activity|metal ion binding										CCGAGTCACGCTTCGCAAGCT	0.647													T	39589268	C	T	39589268	3	4	38	1	0	0	0	0	1	0	0	0	11427	797	28	3	298	3	PAPL	19	39589268	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	35179516	39589268	19539715	77	2349											
PSG9	5678	broad.mit.edu	37	19	43766068	43766068	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:43766068T>C	uc002owd.4	-	2	752	c.653A>G	c.(652-654)gAa>gGa	p.E218G	PSG9_uc002owe.4_Missense_Mutation_p.E218G|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.E218G	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	218	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E218K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTTCCGTATTTCACATTCATA	0.512													C	43766068	T	C	43766068	3	2	38	1	0	0	0	0	1	0	0	0	12662	1783	62	4	643	4	PSG9	19	43766068	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	4176800	43766068	15362915	78	2350											
NLRP5	126206	broad.mit.edu	37	19	56539799	56539799	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:56539799C>T	uc002qmj.3	+	6	2200	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W	NLRP5_uc002qmi.3_Missense_Mutation_p.R715W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	734						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCGTATTTGCGGAAAATTCG	0.502													T	56539799	C	T	56539799	3	4	38	1	0	0	0	0	1	0	0	0	10480	759	27	1	2226	1	NLRP5	19	56539799	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	12773731	56539799	2589184	79	2351											
LBP	3929	broad.mit.edu	37	20	36989406	36989406	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:36989406C>T	uc002xic.1	+	5	672	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	213					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.L213I(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ACAGCCTTATCTCCAAACTCT	0.418													T	36989406	C	T	36989406	3	4	38	1	0	0	0	0	1	0	0	0	8651	913	32	3	659	3	LBP	20	36989406	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		36989406	26036114	80	2352											
SEMG2	6406	broad.mit.edu	37	20	43836503	43836503	+	Nonsense_Mutation	SNP	G	G	T	rs113377758	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:43836503G>T	uc010ggz.3	+						SEMG2_uc002xni.2_Nonsense_Mutation_p.G189*|SEMG2_uc002xnj.2_Nonsense_Mutation_p.G189*	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAAACAAGGCGGATCCCAAAG	0.388													T	43836503	G	T	43836503	4	4	38	1	0	0	0	0	0	1	0	0	14045	1117	39	5		5	SEMG2	20	43836503	Nonsense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	6847097	43836503	19189017	81	2353											
ZNF831	128611	broad.mit.edu	37	20	57769723	57769723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:57769723C>T	uc002yan.3	+	0	3649	c.3649C>T	c.(3649-3651)Cga>Tga	p.R1217*		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1217						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)					TAGCAGCCTCCGAGATGAGGG	0.627													T	57769723	C	T	57769723	4	4	38	1	0	0	0	0	0	1	0	0	18182	644	23	2	3651	2	ZNF831	20	57769723	Nonsense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	13933220	57769723	5255797	82	2354											
PKNOX1	5316	broad.mit.edu	37	21	44437070	44437070	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:44437070C>T	uc002zcq.1	+	5	763	c.575C>T	c.(574-576)cCg>cTg	p.P192L	PKNOX1_uc002zcp.1_Missense_Mutation_p.P192L|PKNOX1_uc011aex.1_Missense_Mutation_p.P75L|PKNOX1_uc002zcr.3_Missense_Mutation_p.P192L	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	192							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ATTGTGGTGCCGGCGTCCGCG	0.502													T	44437070	C	T	44437070	3	4	38	1	0	0	0	0	1	0	0	0	11982	652	23	2	593	2	PKNOX1	21	44437070	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		44437070	3692825	83	2355											
C21orf56	84221	broad.mit.edu	37	21	47588353	47588353	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:47588353C>T	uc011afu.2	-	2	1475	c.413G>A	c.(412-414)aGc>aAc	p.S138N	C21orf56_uc002zii.3_5'UTR	NM_001142854	NP_115637	Q9H0A9	CU056_HUMAN	Homo sapiens chromosome 21 open reading frame 56 (C21orf56), transcript variant 1, mRNA.	138							protein binding			kidney(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.241)		TTGCAAGGGGCTCAGGAGCGG	0.652													T	47588353	C	T	47588353	3	4	38	1	0	0	0	0	1	0	0	0	2127	797	28	3	621	3	C21orf56	21	47588353	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	3151283	47588353	541542	84	2356											
SLC45A1	50651	broad.mit.edu	37	1	8390537	8390537	+	Silent	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:8390537G>A	uc001apb.3	+	3	984	c.984G>A	c.(982-984)tcG>tcA	p.S328S	SLC45A1_uc001apc.3_Silent_p.S26S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	328					carbohydrate transport	integral to membrane	symporter activity	p.P327P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCCGTCGCACACGGCCA	0.697													A	8390537	G	A	8390537	2	1	39	1	0	0	0	0	0	0	0	1	14640	1074	38	1		1	SLC45A1	1	8390537	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08		8390537	240860084	1	2357											
KLHDC7A	127707	broad.mit.edu	37	1	18809465	18809465	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:18809465G>A	uc001bax.3	+	0	2042	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S	KLHDC7A_uc009vpg.3_Missense_Mutation_p.G446S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	664						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACCGGGGGCAGCAAGGA	0.682													A	18809465	G	A	18809465	3	1	39	1	0	0	0	0	1	0	0	0	8360	1232	43	3	1992	3	KLHDC7A	1	18809465	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	10418928	18809465	230441156	2	2358											
FAM54B	56181	broad.mit.edu	37	1	26156090	26156090	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:26156090C>T	uc010oet.2	+	5	775	c.641C>T	c.(640-642)aCa>aTa	p.T214I	FAM54B_uc001bkq.4_Missense_Mutation_p.T181I|FAM54B_uc001bkr.4_Intron|FAM54B_uc009vrz.3_Missense_Mutation_p.T166I|FAM54B_uc001bks.4_Missense_Mutation_p.T181I|FAM54B_uc001bkt.4_Missense_Mutation_p.T181I|FAM54B_uc001bku.4_Intron|FAM54B_uc001bkv.4_Missense_Mutation_p.T84I			Q9H019	FA54B_HUMAN	Homo sapiens family with sequence similarity 54, member B (FAM54B), transcript variant 2, mRNA.	181										endometrium(2)|kidney(2)|large_intestine(2)|pancreas(1)|prostate(1)	8		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCACTCTACAACTTCCTTT	0.478													T	26156090	C	T	26156090	3	4	39	1	0	0	0	0	1	0	0	0	5583	478	17	3	560	3	FAM54B	1	26156090	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	7346625	26156090	223094531	3	2359											
CYB5RL	606495	broad.mit.edu	37	1	54653374	54653374	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:54653374G>A	uc009vzo.3	-	4	706	c.386C>T	c.(385-387)aCg>aTg	p.T129M	CYB5RL_uc001cww.3_5'UTR|CYB5RL_uc001cwy.4_5'UTR|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	129	FAD-binding FR-type.						cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCTGATGGGCGTATAGGCTCT	0.483													A	54653374	G	A	54653374	3	1	39	1	0	0	0	0	1	0	0	0	4130	1145	40	1	577	1	CYB5RL	1	54653374	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	28497284	54653374	194597247	4	2360											
RYR2	6262	broad.mit.edu	37	1	237608770	237608770	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:237608770C>T	uc001hyl.1	+	13	1360	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	414			R -> L (in CPVT1).		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			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)			TGAAGAATCACGCACAGCCCG	0.393													T	237608770	C	T	237608770	3	4	39	1	0	0	0	0	1	0	0	0	13769	536	19	1	1294	1	RYR2	1	237608770	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	182955396	237608770	11641851	5	2361											
SLC5A7	60482	broad.mit.edu	37	2	108626770	108626770	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:108626770C>T	uc002tdv.3	+	8	1472	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	SLC5A7_uc010ywm.2_Missense_Mutation_p.T152M|SLC5A7_uc010fjj.3_Missense_Mutation_p.T399M|SLC5A7_uc010ywn.2_Missense_Mutation_p.T286M	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	399					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCCTTGCTGACGAAAACTGTG	0.463													T	108626770	C	T	108626770	3	4	39	1	0	0	0	0	1	0	0	0	14670	536	19	1	1226	1	SLC5A7	2	108626770	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		108626770	134572603	6	2362											
LRP2	4036	broad.mit.edu	37	2	170007505	170007505	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:170007505G>A	uc002ues.3	-	67	12706	c.12493C>T	c.(12493-12495)Cgc>Tgc	p.R4165C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4165					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R4165C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCTCAATGCGTTTATTCTTG	0.428													A	170007505	G	A	170007505	3	1	39	1	0	0	0	0	1	0	0	0	8956	1145	40	1	1522	1	LRP2	2	170007505	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	61380735	170007505	73191868	7	2363											
TTN	7273	broad.mit.edu	37	2	179498764	179498764	+	Silent	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:179498764T>C	uc021vsy.1	-	179	34983	c.34758A>G	c.(34756-34758)aaA>aaG	p.K11586K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5281K|TTN_uc021vta.1_Silent_p.K5214K|TTN_uc021vtb.1_Silent_p.K5089K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12513	Glu-rich.|Pro-rich.						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)			TTTCACCTTCTTTTACTGTTT	0.358													C	179498764	T	C	179498764	2	2	39	1	0	0	0	0	0	0	0	1	16732	1606	56	4		4	TTN	2	179498764	Silent	SNP	T	TCGA-06-0188-01A-01W-0254-08	9491259	179498764	63700609	8	2364											
DNAJC10	54431	broad.mit.edu	37	2	183584858	183584858	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:183584858G>A	uc002uow.1	+	3	744	c.329G>A	c.(328-330)gGc>gAc	p.G110D	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.G110D|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	110					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATCAAGGTGGCCAGTATGAA	0.308													A	183584858	G	A	183584858	3	1	39	1	0	0	0	0	1	0	0	0	4629	1203	42	3	335	3	DNAJC10	2	183584858	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	4086094	183584858	59614515	9	2365											
TNS1	7145	broad.mit.edu	37	2	218712554	218712554	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:218712554G>A	uc002vgt.2	-	16	2709	c.2311C>T	c.(2311-2313)Cat>Tat	p.H771Y	TNS1_uc002vgr.2_Missense_Mutation_p.H771Y|TNS1_uc002vgs.2_Missense_Mutation_p.H771Y|TNS1_uc010zjv.1_Missense_Mutation_p.H771Y|TNS1_uc010fvj.1_Missense_Mutation_p.H839Y|TNS1_uc010fvk.1_Missense_Mutation_p.H896Y|TNS1_uc010fvi.1_Missense_Mutation_p.H458Y	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	771						cytoplasm|cytoskeleton|focal adhesion	actin binding			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)		CCCAACGAATGCCCACTGGGG	0.607													A	218712554	G	A	218712554	3	1	39	1	0	0	0	0	1	0	0	0	16340	1319	46	3	2964	3	TNS1	2	218712554	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	35127696	218712554	24486819	10	2366											
ABCB6	10058	broad.mit.edu	37	2	220080773	220080773	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:220080773C>T	uc002vkc.2	-	4	2879	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E	ABCB6_uc010fwe.2_Missense_Mutation_p.G321E|ABCB6_uc010zku.1_Intron	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	367	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCCCCTGTGCGGCG	0.672													T	220080773	C	T	220080773	3	4	39	1	0	0	0	0	1	0	0	0	45	623	22	3	1488	3	ABCB6	2	220080773	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	1368219	220080773	23118600	11	2367											
KDR	3791	broad.mit.edu	37	4	55976857	55976857	+	Missense_Mutation	SNP	G	G	A	rs151317075	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:55976857G>A	uc003has.3	-	7	1357	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	KDR_uc003hat.1_Missense_Mutation_p.A352V|KDR_uc011bzx.2_Missense_Mutation_p.A352V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	352	Ig-like C2-type 4.				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.A352V(2)		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)	AAGGTACTTCGCAGGGATTCT	0.413			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55976857	G	A	55976857	3	1	39	1	0	0	0	0	1	0	0	0	8139	1087	38	1	3107	1	KDR	4	55976857	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08		55976857	135177419	12	2368											
TMPRSS11A	339967	broad.mit.edu	37	4	68784698	68784698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:68784698delG	uc003hdr.1	-	7	1075	c.954delC	c.(952-954)tacfs	p.Y318fs	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.Y315fs	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	318	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CACCACCATAGTAAAGTGCTC	0.453													-	68784698	G	-	68784698	7	5	39	1	0	1	0	1	0	0	0	0	16236	1024	36	0	323	0	TMPRSS11A	4	68784698	Frame_Shift_Del	DEL	G	TCGA-06-0188-01A-01W-0254-08	12807841	68784698	122369578	13	2369											
UGT2B11	10720	broad.mit.edu	37	4	70079996	70079996	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:70079996A>G	uc003heh.3	-	0	454	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	149					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCATCTGCAAAAACGATGTCA	0.383													G	70079996	A	G	70079996	3	3	39	1	0	0	0	0	1	0	0	0	16954	14	1	4	1168	4	UGT2B11	4	70079996	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08	1295298	70079996	121074280	14	2370											
UGT2B28	54490	broad.mit.edu	37	4	70156481	70156481	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:70156481C>T	uc003hej.3	+	4	1264	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	421					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S421L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CACACAATGTCGAGTACAGAC	0.423													T	70156481	C	T	70156481	3	4	39	1	0	0	0	0	1	0	0	0	16957	893	31	2	1280	2	UGT2B28	4	70156481	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	76485	70156481	120997795	15	2371											
TACR3	6870	broad.mit.edu	37	4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:104511030C>T	uc003hxe.1	-	4	1348	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	403						integral to plasma membrane	tachykinin receptor activity	p.V403M(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498													T	104511030	C	T	104511030	3	4	39	1	0	0	0	0	1	0	0	0	15504	536	19	1	194	1	TACR3	4	104511030	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	34354549	104511030	86643246	16	2372											
ADAMTS19	171019	broad.mit.edu	37	5	129037232	129037232	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:129037232C>T	uc003kvb.1	+	19	3088	c.3088C>T	c.(3088-3090)Cgc>Tgc	p.R1030C	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1030	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1030H(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTCTGCCCAGCGCTGTGAGGG	0.592													T	129037232	C	T	129037232	3	4	39	1	0	0	0	0	1	0	0	0	264	768	27	1	3166	1	ADAMTS19	5	129037232	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		129037232	51878028	17	2373											
SLC22A5	6584	broad.mit.edu	37	5	131728210	131728210	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:131728210C>T	uc003kwx.4	+	8	1689	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A	SLC22A5_uc003kww.4_Silent_p.A451A|SLC22A5_uc010jdr.1_Silent_p.A71A	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	451					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGTACACAGCCGAGCTGTATC	0.532													T	131728210	C	T	131728210	2	4	39	1	0	0	0	0	0	0	0	1	14457	639	23	2		2	SLC22A5	5	131728210	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	2690978	131728210	49187050	18	2374											
ZNF76	7629	broad.mit.edu	37	6	35255444	35255444	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:35255444T>C	uc003oki.1	+	4	459	c.254T>C	c.(253-255)cTg>cCg	p.L85P	ZNF76_uc011dsy.1_Missense_Mutation_p.L85P|ZNF76_uc011dsz.1_Missense_Mutation_p.L85P|ZNF76_uc003okj.1_Missense_Mutation_p.L85P|ZNF76_uc011dsx.2_Missense_Mutation_p.L85P	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	85	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCCAGCACCCTGGAAGCCGTC	0.577													C	35255444	T	C	35255444	3	2	39	1	0	0	0	0	1	0	0	0	18132	1580	55	4	268	4	ZNF76	6	35255444	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		35255444	135859623	19	2375											
DAAM2	23500	broad.mit.edu	37	6	39864627	39864627	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:39864627G>A	uc003oow.3	+	19	2520	c.2381G>A	c.(2380-2382)cGt>cAt	p.R794H	DAAM2_uc003oox.3_Missense_Mutation_p.R794H	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	794	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGCAGCAAGCGTCTTAGACAG	0.612													A	39864627	G	A	39864627	3	1	39	1	0	0	0	0	1	0	0	0	4216	1145	40	1	2455	1	DAAM2	6	39864627	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	4609183	39864627	131250440	20	2376											
PRPH2	5961	broad.mit.edu	37	6	42672106	42672106	+	Silent	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:42672106G>A	uc003osk.3	-	1	1111	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	275					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCCTACCTCGAAGAGCCAAA	0.627													A	42672106	G	A	42672106	2	1	39	1	0	0	0	0	0	0	0	1	12577	1049	37	2		2	PRPH2	6	42672106	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	2807479	42672106	128442961	21	2377											
KHDRBS2	202559	broad.mit.edu	37	6	62995779	62995779	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:62995779C>T	uc003peg.2	-	0	322	c.75G>A	c.(73-75)tcG>tcA	p.S25S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.A24V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCAAAAGGCGCGACGCATGCA	0.567													T	62995779	C	T	62995779	2	4	39	1	0	0	0	0	0	0	0	1	8147	755	27	1		1	KHDRBS2	6	62995779	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	20323673	62995779	108119288	22	2378											
SASH1	23328	broad.mit.edu	37	6	148840740	148840740	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:148840740A>G	uc003qme.1	+	9	1395	c.920A>G	c.(919-921)tAc>tGc	p.Y307C	SASH1_uc011eeb.1_Missense_Mutation_p.Y68C	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	307							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCGCCCTCTACTCTGGCGTG	0.552													G	148840740	A	G	148840740	3	3	39	1	0	0	0	0	1	0	0	0	13848	391	14	4	958	4	SASH1	6	148840740	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08	85844961	148840740	22274327	23	2379											
PKD1L1	168507	broad.mit.edu	37	7	47835588	47835588	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr7:47835588T>C	uc003tny.2	-	55	8389	c.8355_splice	c.e55+1	p.H2785_splice	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2785					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCTTACGTGATTCTCAAC	0.413													C	47835588	T	C	47835588	3	2	39	1	0	0	0	0	1	0	0	0	11964	1710	59	4	207	4	PKD1L1	7	47835588	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		47835588	111303075	24	2380											
MLL3	58508	broad.mit.edu	37	7	151960173	151960173	+	Silent	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr7:151960173A>G	uc003wla.3	-	8	1446	c.1227T>C	c.(1225-1227)tgT>tgC	p.C409C		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	409					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.T408M(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCCTTTGTCACACGTATCAC	0.308			N		medulloblastoma								G	151960173	A	G	151960173	2	3	39	1	0	0	0	0	0	0	0	1	9622	157	6	4		4	MLL3	7	151960173	Silent	SNP	A	TCGA-06-0188-01A-01W-0254-08	104124585	151960173	7178490	25	2381											
RIMS2	9699	broad.mit.edu	37	8	105026843	105026843	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:105026843A>G	uc003yls.3	+	17	2795	c.2554_splice	c.e17+1	p.N852_splice	RIMS2_uc003ylp.3_Splice_Site_p.K1112_splice|RIMS2_uc003ylw.2_Splice_Site_p.N926_splice|RIMS2_uc003ylq.3_Splice_Site_p.K926_splice|RIMS2_uc003ylr.3_Splice_Site_p.K951_splice	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1174	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			GTTGGATAGAAGTAAGTTTTA	0.418										HNSCC(12;0.0054)			G	105026843	A	G	105026843	3	3	39	1	0	0	0	0	1	0	0	0	13368	86	3	4	3604	4	RIMS2	8	105026843	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08		105026843	41337179	26	2382											
DPYS	1807	broad.mit.edu	37	8	105456494	105456494	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:105456494C>A	uc003yly.4	-	3	904	c.775G>T	c.(775-777)Gcg>Tcg	p.A259S		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	259					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGCATCCGCTATCACCTTA	0.493													A	105456494	C	A	105456494	3	1	39	1	0	0	0	0	1	0	0	0	4746	797	28	5	808	5	DPYS	8	105456494	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	429651	105456494	40907528	27	2383											
COL14A1	7373	broad.mit.edu	37	8	121259908	121259908	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:121259908C>T	uc003yox.3	+	20	2801	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	COL14A1_uc003yoy.3_Missense_Mutation_p.R524C	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	846	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R846S(2)		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)			TAACCGGTTGCGCATTACGTG	0.458													T	121259908	C	T	121259908	3	4	39	1	0	0	0	0	1	0	0	0	3671	768	27	1	2614	1	COL14A1	8	121259908	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	15803414	121259908	25104114	28	2384											
TG	7038	broad.mit.edu	37	8	133879299	133879299	+	Silent	SNP	G	G	A	rs145163419	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:133879299G>A	uc003ytw.3	+	0	95	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	18					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			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)		GCTGGGTGTCGGCCAATATCT	0.617													A	133879299	G	A	133879299	2	1	39	1	0	0	0	0	0	0	0	1	15810	1103	39	2		2	TG	8	133879299	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	12619391	133879299	12484723	29	2385											
PRUNE2	158471	broad.mit.edu	37	9	79469120	79469120	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:79469120C>T	uc010mpk.3	-	1	165	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	PRUNE2_uc022bih.1_5'UTR|PRUNE2_uc004akn.3_Missense_Mutation_p.R14Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	14					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCGTTTGCTTCGATTCTGAAA	0.328													T	79469120	C	T	79469120	3	4	39	1	0	0	0	0	1	0	0	0	12641	884	31	2	9297	2	PRUNE2	9	79469120	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		79469120	61744311	30	2386											
AKNA	80709	broad.mit.edu	37	9	117129898	117129898	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:117129898C>T	uc004biq.3	-	4	1788	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	AKNA_uc004bio.3_Silent_p.R11R|AKNA_uc004bip.3_Silent_p.R470R|AKNA_uc004bir.3_Silent_p.R551R|AKNA_uc004bis.3_Silent_p.R551R|AKNA_uc010mve.2_Silent_p.R432R|AKNA_uc004biu.1_Silent_p.R292R|AKNA_uc004biv.1_Silent_p.R551R	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CAGAGATGTCCCGGTTCTCCG	0.617													T	117129898	C	T	117129898	2	4	39	1	0	0	0	0	0	0	0	1	463	610	22	3		3	AKNA	9	117129898	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	37660778	117129898	24083533	31	2387											
TNC	3371	broad.mit.edu	37	9	117797581	117797581	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:117797581C>T	uc004bjj.4	-	21	6101	c.5689G>A	c.(5689-5691)Gag>Aag	p.E1897K	TNC_uc010mvf.3_Missense_Mutation_p.E1624K|TNC_uc022bmj.1_Missense_Mutation_p.E1534K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1897	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.E1897K(2)|p.E1897D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGAACCTCAGTAGCAGTC	0.517													T	117797581	C	T	117797581	3	4	39	1	0	0	0	0	1	0	0	0	16267	835	29	3	944	3	TNC	9	117797581	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	667683	117797581	23415850	32	2388											
OR5C1	392391	broad.mit.edu	37	9	125551260	125551260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:125551260G>A	uc011lzd.2	+	0	49	c.49G>A	c.(49-51)Gtc>Atc	p.V17I		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TGCTGAATTCGTCCTCCTGGG	0.587													A	125551260	G	A	125551260	3	1	39	1	0	0	0	0	1	0	0	0	11153	1145	40	1	51	1	OR5C1	9	125551260	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	7753679	125551260	15662171	33	2389											
PTEN	5728	broad.mit.edu	37	10	89720812	89720812	+	Frame_Shift_Del	DEL	A	A	-	rs121913291		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr10:89720812delA	uc001kfb.3	+	7	1995	c.963delA	c.(961-963)acafs	p.T321fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	321	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.T321fs*23(19)|p.T321fs*3(15)|p.R55fs*1(5)|p.L320*(3)|p.T319_K332del(2)|p.T321fs*22(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.N323fs*2(2)|p.G165_*404del(1)|p.L320V(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T321fs*4(1)|p.T321fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACTTTAACAAAAAATGATC	0.323		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720812	A	-	89720812	7	5	39	1	0	1	0	1	0	0	0	0	12738	117	5	0	993	0	PTEN	10	89720812	Frame_Shift_Del	DEL	A	TCGA-06-0188-01A-01W-0254-08		89720812	45813935	34	2390											
MMP26	56547	broad.mit.edu	37	11	5013297	5013297	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:5013297C>T	uc001lzv.3	+	4	717	c.699C>T	c.(697-699)caC>caT	p.H233H		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	233					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACTGGTATCACGACCCTAGAA	0.488													T	5013297	C	T	5013297	2	4	39	1	0	0	0	0	0	0	0	1	9663	535	19	1		1	MMP26	11	5013297	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08		5013297	129993219	35	2391											
OR52L1	338751	broad.mit.edu	37	11	6007615	6007615	+	Silent	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:6007615T>C	uc001mcd.2	-	0	601	c.546A>G	c.(544-546)ggA>ggG	p.G182G		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATAAGTTTTCCCAACAAAA	0.488													C	6007615	T	C	6007615	2	2	39	1	0	0	0	0	0	0	0	1	11125	1770	62	4		4	OR52L1	11	6007615	Silent	SNP	T	TCGA-06-0188-01A-01W-0254-08	994318	6007615	128998901	36	2392											
MAP4K2	5871	broad.mit.edu	37	11	64568434	64568434	+	Silent	SNP	C	C	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:64568434C>G	uc001obh.3	-	8	692	c.600G>C	c.(598-600)ctG>ctC	p.L200L	MAP4K2_uc001obi.3_Silent_p.L200L	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	200	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CAGTGATGCCCAGGGCCCAGA	0.622													G	64568434	C	G	64568434	2	3	39	1	0	0	0	0	0	0	0	1	9260	581	21	5		5	MAP4K2	11	64568434	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	58560819	64568434	70438082	37	2393											
PTPRB	5787	broad.mit.edu	37	12	70986066	70986066	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:70986066T>G	uc001swb.4	-	4	1152	c.1122A>C	c.(1120-1122)agA>agC	p.R374S	PTPRB_uc010sto.2_Missense_Mutation_p.R374S|PTPRB_uc010stp.2_Missense_Mutation_p.R374S|PTPRB_uc001swc.4_Missense_Mutation_p.R592S|PTPRB_uc001swa.4_Missense_Mutation_p.R592S|PTPRB_uc001swd.4_Missense_Mutation_p.R591S|PTPRB_uc009zrr.2_Missense_Mutation_p.R471S|PTPRB_uc001swe.3_Missense_Mutation_p.R592S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	374	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTCACATGTTCTGCCCACTG	0.448													G	70986066	T	G	70986066	3	3	39	1	0	0	0	0	1	0	0	0	12796	1780	62	5	4983	5	PTPRB	12	70986066	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		70986066	62865829	38	2394											
ACADS	35	broad.mit.edu	37	12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:121176678G>A	uc001tza.4	+	7	1107	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_uc010szl.1_Missense_Mutation_p.R326H	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(4)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGACCTGGCGCGCTGCCATG	0.642													A	121176678	G	A	121176678	3	1	39	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	50190612	121176678	12675217	39	2395											
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Nonsense_Mutation	SNP	C	C	T	rs3092891		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr13:48953730C>T	uc001vcb.3	+	14	1499	c.1333_splice	c.e14-1	p.R445_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTGTAGCGATACAAACT	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48953730	C	T	48953730	4	4	39	1	0	0	0	0	0	1	0	0	13098	782	27	1	1387	1	RB1	13	48953730	Nonsense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		48953730	66216148	40	2396											
OR4K5	79317	broad.mit.edu	37	14	20389501	20389501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr14:20389501delG	uc010tkw.2	+	0	736	c.736delG	c.(736-738)gtafs	p.V246fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A245A(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)		CCATATTGCAGTAGTAATATT	0.398													-	20389501	G	-	20389501	7	5	39	1	0	1	0	1	0	0	0	0	11073	1029	36	0	738	0	OR4K5	14	20389501	Frame_Shift_Del	DEL	G	TCGA-06-0188-01A-01W-0254-08		20389501	86960039	41	2397											
GOLGA6D	653643	broad.mit.edu	37	15	75580661	75580661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr15:75580661C>T	uc010uma.2	+	6	555	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN	Homo sapiens golgin A6 family, member D (GOLGA6D), mRNA.	174										kidney(1)|lung(1)	2						AGAATTGGAGCGGGCTCTCTG	0.552													T	75580661	C	T	75580661	3	4	39	1	0	0	0	0	1	0	0	0	6560	759	27	1	546	1	GOLGA6D	15	75580661	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		75580661	26950731	42	2398											
DECR2	26063	broad.mit.edu	37	16	455001	455001	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:455001C>G	uc002chb.3	+	1	232	c.126C>G	c.(124-126)ttC>ttG	p.F42L	DECR2_uc021szq.1_Missense_Mutation_p.F42L|DECR2_uc002chc.3_5'UTR|DECR2_uc002chd.3_5'UTR|DECR2_uc002che.1_5'Flank	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	42						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GGATTGGGTTCCGGATTGCTG	0.582													G	455001	C	G	455001	3	3	39	1	0	0	0	0	1	0	0	0	4383	854	30	5	132	5	DECR2	16	455001	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		455001	89899752	43	2399											
ITGAM	3684	broad.mit.edu	37	16	31284722	31284722	+	Silent	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:31284722G>A	uc002ebr.3	+	7	839	c.741G>A	c.(739-741)aaG>aaA	p.K247K	ITGAM_uc002ebq.3_Silent_p.K247K|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	247	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGCCCGAAAGAATGCCTTTA	0.453													A	31284722	G	A	31284722	2	1	39	1	0	0	0	0	0	0	0	1	7887	933	33	3		3	ITGAM	16	31284722	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	30829721	31284722	59070031	44	2400											
ITGAM	3684	broad.mit.edu	37	16	31286937	31286937	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:31286937G>A	uc002ebr.3	+	8	1024	c.926G>A	c.(925-927)cGt>cAt	p.R309H	ITGAM_uc002ebq.3_Missense_Mutation_p.R309H|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	309	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAGCCGCCTCGTGATCACGTG	0.512													A	31286937	G	A	31286937	3	1	39	1	0	0	0	0	1	0	0	0	7887	1145	40	1	960	1	ITGAM	16	31286937	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	2215	31286937	59067816	45	2401											
ATP2A3	489	broad.mit.edu	37	17	3850757	3850757	+	Silent	SNP	G	G	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:3850757G>T	uc002fwy.2	-	7	1196	c.1023C>A	c.(1021-1023)acC>acA	p.T341T	ATP2A3_uc002fwz.2_Silent_p.T341T|ATP2A3_uc002fxa.2_Silent_p.T341T|ATP2A3_uc002fxb.2_Silent_p.T341T|ATP2A3_uc002fxc.2_Silent_p.T341T|ATP2A3_uc002fxd.2_Silent_p.T341T|ATP2A3_uc002fwx.2_Silent_p.T341T	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	341					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			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)		TGCAGCCCAGGGTCTCCACGG	0.647													T	3850757	G	T	3850757	2	4	39	1	0	0	0	0	0	0	0	1	1138	1219	43	5		5	ATP2A3	17	3850757	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08		3850757	77344453	46	2402											
TP53	7157	broad.mit.edu	37	17	7576926	7576927	+	Splice_Site	DNP	GC	GC	AT			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:7576926_7576927GC>AT	uc002gim.2	-	9	1114	c.920_splice	c.e9-1	p.A307_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	307	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (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.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(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)		GTTGGGCAGTGCTAGGAAAGAG	0.49		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)			AT	7576927	GC	AT	7576926	5	1	39	1	0	0	0	0	0	0	1	0	16378	1333	46	3	362	3	TP53	17	7576926	Splice_Site	DNP	GC	TCGA-06-0188-01A-01W-0254-08	3726169	7576926	73618284	47	2403											
MYH8	4626	broad.mit.edu	37	17	10315706	10315706	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:10315706G>A	uc002gmm.2	-	13	1492	c.1397C>T	c.(1396-1398)gCt>gTt	p.A466V	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	466	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCAAAGCCAGCAATGTCCAA	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10315706	G	A	10315706	3	1	39	1	0	0	0	0	1	0	0	0	10041	971	34	3	4524	3	MYH8	17	10315706	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	2738780	10315706	70879504	48	2404											
ACSF2	80221	broad.mit.edu	37	17	48540562	48540562	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:48540562A>G	uc010wmm.1	+	7	1017	c.913A>G	c.(913-915)Att>Gtt	p.I305V	ACSF2_uc002iqu.2_Missense_Mutation_p.I280V|ACSF2_uc010wml.1_Missense_Mutation_p.I237V|ACSF2_uc010wmn.1_Missense_Mutation_p.I267V|ACSF2_uc010wmo.1_Missense_Mutation_p.I120V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	280					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCACTACAACATTGTCAACAA	0.597													G	48540562	A	G	48540562	3	3	39	1	0	0	0	0	1	0	0	0	175	217	8	4	864	4	ACSF2	17	48540562	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08	38224856	48540562	32654648	49	2405											
RAVER1	125950	broad.mit.edu	37	19	10434237	10434237	+	Silent	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr19:10434237C>T	uc002moa.3	-	3	893	c.813G>A	c.(811-813)gcG>gcA	p.A271A		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	254	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCTGGCCGCACGCCAGCTGCC	0.652													T	10434237	C	T	10434237	2	4	39	1	0	0	0	0	0	0	0	1	13094	523	19	1		1	RAVER1	19	10434237	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08		10434237	48694746	50	2406											
ITSN1	6453	broad.mit.edu	37	21	35230998	35230998	+	Silent	SNP	A	A	G			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:35230998A>G	uc002yta.1	+	30	4060	c.3792A>G	c.(3790-3792)caA>caG	p.Q1264Q	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.Q1259Q|ITSN1_uc002ytj.2_Silent_p.Q1259Q|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1264	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.Q1264K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGATTTTTCAAAAACCCCTGA	0.428													G	35230998	A	G	35230998	2	3	39	1	0	0	0	0	0	0	0	1	7926	11	1	4		4	ITSN1	21	35230998	Silent	SNP	A	TCGA-06-0188-01A-01W-0254-08		35230998	12898897	51	2407											
UMODL1	89766	broad.mit.edu	37	21	43524017	43524017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:43524017C>T	uc002zag.1	+	8	1339	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	UMODL1_uc002zad.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zae.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zaf.1_Nonsense_Mutation_p.R447*|UMODL1_uc010gow.1_Nonsense_Mutation_p.R239*|UMODL1_uc002zai.1_Nonsense_Mutation_p.R98*|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Nonsense_Mutation_p.R98*|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Nonsense_Mutation_p.R192*|C21orf128_uc002zak.2_Silent_p.S72S	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	447	SEA 1.		R -> Q.			cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGACTTGTACCGAAGTGGGAA	0.562													T	43524017	C	T	43524017	4	4	39	1	0	0	0	0	0	1	0	0	16977	644	23	2	1373	2	UMODL1	21	43524017	Nonsense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	8293019	43524017	4605878	52	2408											
KRTAP10-3	386682	broad.mit.edu	37	21	45978434	45978434	+	Silent	SNP	G	G	A			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:45978434G>A	uc002zfj.1	-	0	210	c.165C>T	c.(163-165)agC>agT	p.S55S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	55	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGCAGCAGGGGCTGGACACAC	0.711													A	45978434	G	A	45978434	2	1	39	1	0	0	0	0	0	0	0	1	8510	1194	42	3		3	KRTAP10-3	21	45978434	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	2454417	45978434	2151461	53	2409											
LZTR1	8216	broad.mit.edu	37	22	21351542	21351542	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr22:21351542C>T	uc002zto.3	+	20	2531	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	LZTR1_uc002ztn.3_Missense_Mutation_p.R769W|LZTR1_uc011ahy.2_Missense_Mutation_p.R791W	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	810					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.R810W(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCCACCCTGCGGTCGCTGAG	0.642													T	21351542	C	T	21351542	3	4	39	1	0	0	0	0	1	0	0	0	9137	759	27	1	2510	1	LZTR1	22	21351542	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		21351542	29953024	54	2410											
ZNF41	7592	broad.mit.edu	37	X	47308259	47308259	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:47308259T>C	uc004dhs.4	-	3	1103	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	ZNF41_uc004dhu.4_Missense_Mutation_p.S338G|ZNF41_uc004dht.4_Missense_Mutation_p.S218G|ZNF41_uc004dhv.4_Missense_Mutation_p.S314G|ZNF41_uc004dhw.4_Missense_Mutation_p.S306G|ZNF41_uc004dhy.4_Missense_Mutation_p.S304G|ZNF41_uc004dhx.4_Missense_Mutation_p.S304G|ZNF41_uc011mlm.2_Missense_Mutation_p.S218G	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	346						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACTTTGTTGCTTTTGTCACAT	0.418													C	47308259	T	C	47308259	3	2	39	1	0	0	0	0	1	0	0	0	17886	1609	56	4	1433	4	ZNF41	23	47308259	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		47308259	107962301	55	2411											
BCORL1	63035	broad.mit.edu	37	X	129190028	129190028	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:129190028G>T	uc022cdu.1	+	11	5097	c.5053G>T	c.(5053-5055)Gag>Tag	p.E1685*	BCORL1_uc004evc.2_Nonsense_Mutation_p.E521*	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1685					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				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						AGGCTCCTCTGAGACTGTGGA	0.627													T	129190028	G	T	129190028	4	4	39	1	0	0	0	0	0	1	0	0	1387	1291	45	5	5325	5	BCORL1	23	129190028	Nonsense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	81881769	129190028	26080532	56	2412											
PASD1	139135	broad.mit.edu	37	X	150770028	150770028	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:150770028G>T	uc004fev.4	+	1	335	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	1						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAATGAAGATGAGAG	0.408													T	150770028	G	T	150770028	3	4	39	1	0	0	0	0	1	0	0	0	11471	1290	45	5	5	5	PASD1	23	150770028	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	21580000	150770028	4500532	57	2413											
HMCN1	83872	broad.mit.edu	37	1	185815175	185815175	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr1:185815175A>T	uc001grq.1	+	1	515	c.286A>T	c.(286-288)Att>Ttt	p.I96F		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	96	VWFA.				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						CCCAGTGACAATTACCACAGA	0.358													T	185815175	A	T	185815175	3	4	40	1	0	0	0	0	1	0	0	0	7220	101	4	5	292	5	HMCN1	1	185815175	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08		185815175	63435446	1	2414											
UXS1	80146	broad.mit.edu	37	2	106761696	106761696	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr2:106761696T>C	uc002tdm.3	-	5	505	c.407A>G	c.(406-408)gAg>gGg	p.E136G	UXS1_uc002tdn.3_Missense_Mutation_p.E141G|UXS1_uc002tdo.3_Missense_Mutation_p.E79G|UXS1_uc010ywh.2_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	136					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	p.E135Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTCGAAGTTCTCATGTCCGAT	0.512													C	106761696	T	C	106761696	3	2	40	1	0	0	0	0	1	0	0	0	17106	1551	54	4	895	4	UXS1	2	106761696	Missense_Mutation	SNP	T	TCGA-06-0189-01A-01D-1491-08		106761696	136437677	2	2415											
NCKAP5	344148	broad.mit.edu	37	2	133541813	133541813	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr2:133541813A>C	uc002ttp.3	-	13	2945	c.2571T>G	c.(2569-2571)ttT>ttG	p.F857L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	857							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATCGTAATTCAAAGAGGGGCC	0.532													C	133541813	A	C	133541813	3	2	40	1	0	0	0	0	1	0	0	0	10223	127	5	5	3186	5	NCKAP5	2	133541813	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08	26780117	133541813	109657560	3	2416											
TM4SF19	116211	broad.mit.edu	37	3	196051173	196051173	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr3:196051173A>G	uc010iad.2	-	3	576	c.418T>C	c.(418-420)Tat>Cat	p.Y140H	TM4SF19_uc003fwj.3_Non-coding_Transcript|AK124973_uc003fwk.1_3'UTR|TM4SF19_uc003fwl.2_Missense_Mutation_p.Y140H|TM4SF19_uc021xjs.1_Missense_Mutation_p.Y140H|TM4SF19_uc011btv.2_Missense_Mutation_p.Y114H	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	140						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GGGTAACCATATTTCCAAGCT	0.438													G	196051173	A	G	196051173	3	3	40	1	0	0	0	0	1	0	0	0	15965	449	16	4	219	4	TM4SF19	3	196051173	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08		196051173	1971257	4	2417											
UGT2B4	7363	broad.mit.edu	37	4	70359506	70359506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr4:70359506G>A	uc003hek.4	-	1	822	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT2B4_uc011cap.2_Nonsense_Mutation_p.R123*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.R259*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTAGTTTCGAATAAGCCAT	0.413													A	70359506	G	A	70359506	4	1	40	1	0	0	0	0	0	1	0	0	16958	1066	37	2	831	2	UGT2B4	4	70359506	Nonsense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		70359506	120794770	5	2418											
STK10	6793	broad.mit.edu	37	5	171520876	171520876	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr5:171520876G>A	uc003mbo.1	-	8	1394	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	365							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGTGCCAGCGGGGTGGAAGG	0.587													A	171520876	G	A	171520876	3	1	40	1	0	0	0	0	1	0	0	0	15285	1116	39	2	1856	2	STK10	5	171520876	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		171520876	9394384	6	2419											
RUNX2	860	broad.mit.edu	37	6	45514682	45514682	+	Silent	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr6:45514682G>A	uc011dvx.2	+	8	1416	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	RUNX2_uc011dvy.2_Silent_p.P380P|RUNX2_uc003oxt.3_Silent_p.P388P	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	402	Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTACACCCCGCCAGTCACCT	0.577													A	45514682	G	A	45514682	2	1	40	1	0	0	0	0	0	0	0	1	13748	1074	38	1		1	RUNX2	6	45514682	Silent	SNP	G	TCGA-06-0189-01A-01D-1491-08		45514682	125600385	7	2420											
WBSCR27	155368	broad.mit.edu	37	7	73249094	73249094	+	Silent	SNP	C	C	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:73249094C>T	uc003tzj.2	-	5	757	c.717G>A	c.(715-717)agG>agA	p.R239R		NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	239										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				ACCTGGGTCGCCTTCCACTTT	0.632													T	73249094	C	T	73249094	2	4	40	1	0	0	0	0	0	0	0	1	17263	738	26	3		3	WBSCR27	7	73249094	Silent	SNP	C	TCGA-06-0189-01A-01D-1491-08		73249094	85889569	8	2421											
CUX1	1523	broad.mit.edu	37	7	101847816	101847816	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:101847816A>G	uc003uys.4	+	18	3213	c.3086A>G	c.(3085-3087)cAg>cGg	p.Q1029R	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.Q1018R	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1018					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTACCCGTCCAGGGCCAGCAG	0.647													G	101847816	A	G	101847816	3	3	40	1	0	0	0	0	1	0	0	0	4064	188	7	4	3194	4	CUX1	7	101847816	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08	28598722	101847816	57290847	9	2422											
AASS	10157	broad.mit.edu	37	7	121756793	121756793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:121756793G>A	uc003vka.3	-	6	884	c.788C>T	c.(787-789)aCg>aTg	p.T263M	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.T263M|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	263	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.T263T(2)|p.T263M(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACTTAACACCGTCCCATACAC	0.353													A	121756793	G	A	121756793	3	1	40	1	0	0	0	0	1	0	0	0	24	1145	40	1	2060	1	AASS	7	121756793	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	19908977	121756793	37381870	10	2423											
GRM8	2918	broad.mit.edu	37	7	126882805	126882805	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:126882805C>G	uc003vlr.2	-	0	765	c.454G>C	c.(454-456)Ggt>Cgt	p.G152R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G152R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	152					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTGCAGCACCTATGACGCCA	0.433										HNSCC(24;0.065)			G	126882805	C	G	126882805	3	3	40	1	0	0	0	0	1	0	0	0	6803	681	24	5	2362	5	GRM8	7	126882805	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08	5126012	126882805	32255858	11	2424											
PHF20L1	51105	broad.mit.edu	37	8	133829196	133829196	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr8:133829196A>C	uc003ytt.3	+	10	1572	c.1247A>C	c.(1246-1248)cAg>cCg	p.Q416P	PHF20L1_uc003yts.3_Missense_Mutation_p.Q416P|PHF20L1_uc011lja.2_Missense_Mutation_p.Q390P|PHF20L1_uc003ytu.1_Intron	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	416							nucleic acid binding|zinc ion binding			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)			AGAAGATCTCAGCGTTTAGCC	0.453													C	133829196	A	C	133829196	3	2	40	1	0	0	0	0	1	0	0	0	11832	188	7	5	1291	5	PHF20L1	8	133829196	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08		133829196	12534826	12	2425											
OR5D13	390142	broad.mit.edu	37	11	55541191	55541191	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr11:55541191C>A	uc010ril.2	+	0	278	c.278C>A	c.(277-279)aCc>aAc	p.T93N		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GAATACAGAACCATCTCTTTC	0.398													A	55541191	C	A	55541191	3	1	40	1	0	0	0	0	1	0	0	0	11154	507	18	5	280	5	OR5D13	11	55541191	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		55541191	79465325	13	2426											
ABCC9	10060	broad.mit.edu	37	12	22069980	22069980	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:22069980T>C	uc001rfh.3	-	3	484	c.464A>G	c.(463-465)tAc>tGc	p.Y155C	ABCC9_uc001rfi.1_Missense_Mutation_p.Y155C	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	155					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			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)	AGACTGACAGTACTTAACCAA	0.388													C	22069980	T	C	22069980	3	2	40	1	0	0	0	0	1	0	0	0	59	1638	57	4	4467	4	ABCC9	12	22069980	Missense_Mutation	SNP	T	TCGA-06-0189-01A-01D-1491-08		22069980	111781915	14	2427											
PKP2	5318	broad.mit.edu	37	12	33030958	33030958	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:33030958A>C	uc001rlj.4	-	2	971	c.856T>G	c.(856-858)Tcc>Gcc	p.S286A	PKP2_uc001rlk.4_Missense_Mutation_p.S286A|PKP2_uc010skj.2_Missense_Mutation_p.S286A	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	286					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAGGACCTGGAAGCCCTGTTC	0.652													C	33030958	A	C	33030958	3	2	40	1	0	0	0	0	1	0	0	0	11985	246	9	5	1837	5	PKP2	12	33030958	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08	10960978	33030958	100820937	15	2428											
MFSD5	84975	broad.mit.edu	37	12	53647741	53647741	+	Silent	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:53647741G>A	uc001sch.2	+	1	1590	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	MFSD5_uc001sci.2_Silent_p.Q374Q|MFSD5_uc021qye.1_Silent_p.Q374Q	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	374					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						AGACAGAGCAGGCTGGTGTAC	0.502													A	53647741	G	A	53647741	2	1	40	1	0	0	0	0	0	0	0	1	9534	991	35	3		3	MFSD5	12	53647741	Silent	SNP	G	TCGA-06-0189-01A-01D-1491-08	20616783	53647741	80204154	16	2429											
GLT1D1	144423	broad.mit.edu	37	12	129360490	129360490	+	Missense_Mutation	SNP	G	G	A	rs146263464	byFrequency	TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:129360490G>A	uc010tbh.1	+	1	76	c.67G>A	c.(67-69)Gtt>Att	p.V23I	GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	34					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCACGTGTGCGTTTTGAAGGA	0.473													A	129360490	G	A	129360490	3	1	40	1	0	0	0	0	1	0	0	0	6465	1145	40	1	106	1	GLT1D1	12	129360490	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	75712749	129360490	4491405	17	2430											
PLA2G4E	123745	broad.mit.edu	37	15	42298316	42298316	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr15:42298316C>T	uc021sjp.1	-	3	397	c.397G>A	c.(397-399)Gtg>Atg	p.V133M		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	115	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AACTCTAGCACGTTCTAGGGG	0.507													T	42298316	C	T	42298316	3	4	40	1	0	0	0	0	1	0	0	0	12005	536	19	1	2277	1	PLA2G4E	15	42298316	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		42298316	60233076	18	2431											
DET1	55070	broad.mit.edu	37	15	89070986	89070986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr15:89070986G>A	uc002bmq.2	-	3	1337	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.T372M|DET1_uc010bnk.2_Intron	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	372						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACCTCTGTCGTCACCATATT	0.433													A	89070986	G	A	89070986	3	1	40	1	0	0	0	0	1	0	0	0	4450	1145	40	1	549	1	DET1	15	89070986	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	46772670	89070986	13460406	19	2432											
CACNA1H	8912	broad.mit.edu	37	16	1257299	1257299	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr16:1257299G>A	uc002cks.3	+	13	3180	c.2932G>A	c.(2932-2934)Gtg>Atg	p.V978M	CACNA1H_uc002ckt.3_Missense_Mutation_p.V978M|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	978					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGACTGGAACGTGGTCCTGTA	0.632													A	1257299	G	A	1257299	3	1	40	1	0	0	0	0	1	0	0	0	2545	1145	40	1	2982	1	CACNA1H	16	1257299	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		1257299	89097454	20	2433											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	40	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		7578406	73616804	21	2434											
ATP6V0A1	535	broad.mit.edu	37	17	40646356	40646356	+	Silent	SNP	G	G	A	rs142629560		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:40646356G>A	uc002hzs.3	+	11	1367	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	ATP6V0A1_uc002hzr.3_Silent_p.P393P|ATP6V0A1_uc002hzq.3_Silent_p.P393P|ATP6V0A1_uc010wgj.2_Silent_p.P350P|ATP6V0A1_uc010wgk.2_Silent_p.P350P|ATP6V0A1_uc010cyg.3_Silent_p.P39P|ATP6V0A1_uc010wgl.2_Silent_p.P252P	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	393					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCATAGCTCCGTATACTATTA	0.368													A	40646356	G	A	40646356	2	1	40	1	0	0	0	0	0	0	0	1	1168	1132	40	1		1	ATP6V0A1	17	40646356	Silent	SNP	G	TCGA-06-0189-01A-01D-1491-08	33067950	40646356	40548854	22	2435											
STXBP2	6813	broad.mit.edu	37	19	7711219	7711219	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr19:7711219G>C	uc010xjr.2	+	15	1519	c.1474G>C	c.(1474-1476)Gat>Cat	p.D492H	STXBP2_uc002mha.4_Missense_Mutation_p.D481H|STXBP2_uc002mhb.4_Missense_Mutation_p.D478H|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Missense_Mutation_p.D109H	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	481					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCATCAAGGATGTAATGGA	0.677													C	7711219	G	C	7711219	3	2	40	1	0	0	0	0	1	0	0	0	15352	1174	41	5	1503	5	STXBP2	19	7711219	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		7711219	51417764	23	2436											
MUC16	94025	broad.mit.edu	37	19	9045842	9045842	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr19:9045842C>G	uc002mkp.3	-	4	35993	c.35789G>C	c.(35788-35790)gGa>gCa	p.G11930A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11932	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						TTCTGGGGGTCCAACTGAAGT	0.493													G	9045842	C	G	9045842	3	3	40	1	0	0	0	0	1	0	0	0	9973	855	30	5	8054	5	MUC16	19	9045842	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08	1334623	9045842	50083141	24	2437											
CST9	128822	broad.mit.edu	37	20	23586397	23586397	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr20:23586397C>T	uc002wtl.3	-	0	214	c.105G>A	c.(103-105)atG>atA	p.M35I		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	35						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TATTACCACCCATTTCCTCTT	0.517													T	23586397	C	T	23586397	3	4	40	1	0	0	0	0	1	0	0	0	3979	594	21	3	382	3	CST9	20	23586397	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		23586397	39439123	25	2438											
NPBWR2	2832	broad.mit.edu	37	20	62738130	62738130	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr20:62738130G>A	uc011abt.2	-	0	55	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	19						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCCATCGTGGGGAGGGAGAAG	0.637													A	62738130	G	A	62738130	3	1	40	1	0	0	0	0	1	0	0	0	10569	1232	43	3	949	3	NPBWR2	20	62738130	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	39151733	62738130	287390	26	2439											
CXorf23	256643	broad.mit.edu	37	X	19968977	19968977	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chrX:19968977T>G	uc004czp.3	-	6	1639	c.1639A>C	c.(1639-1641)Aaa>Caa	p.K547Q	CXorf23_uc011mjg.2_Missense_Mutation_p.K112Q|CXorf23_uc004czo.3_Missense_Mutation_p.K497Q	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	547						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTATTATTTTGATCAGAGTC	0.363													G	19968977	T	G	19968977	3	3	40	1	0	0	0	0	1	0	0	0	4103	1821	63	5	429	5	CXorf23	23	19968977	Missense_Mutation	SNP	T	TCGA-06-0189-01A-01D-1491-08		19968977	135301583	27	2440											
MECR	51102	broad.mit.edu	37	1	29557372	29557372	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:29557372T>G	uc001brq.1	-	0	83	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	MECR_uc001brp.1_5'UTR|MECR_uc001brt.1_5'UTR|MECR_uc010ofz.1_Missense_Mutation_p.Q16P	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	16					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCCCCGCCACTGCCGGGCGGG	0.692													G	29557372	T	G	29557372	3	3	41	1	0	0	0	0	1	0	0	0	9424	1580	55	5	1114	5	MECR	1	29557372	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		29557372	219693249	1	2441											
FOXJ3	22887	broad.mit.edu	37	1	42657151	42657151	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:42657151G>A	uc001che.3	-	10	1486	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	FOXJ3_uc001chf.3_Nonsense_Mutation_p.Q392*|FOXJ3_uc001chh.2_Nonsense_Mutation_p.Q358*|FOXJ3_uc001chg.3_Nonsense_Mutation_p.Q392*	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	392					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCGGATGCTGCGGTAAACCA	0.592													A	42657151	G	A	42657151	4	1	41	1	0	0	0	0	0	1	0	0	6013	1328	46	3	714	3	FOXJ3	1	42657151	Nonsense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	13099779	42657151	206593470	2	2442											
ELTD1	64123	broad.mit.edu	37	1	79403509	79403509	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:79403509G>T	uc001diq.4	-	5	899	c.743C>A	c.(742-744)aCa>aAa	p.T248K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	248					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CGTTGAATTTGTATCAAACTC	0.378													T	79403509	G	T	79403509	3	4	41	1	0	0	0	0	1	0	0	0	5084	1377	48	5	1369	5	ELTD1	1	79403509	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	36746358	79403509	169847112	3	2443											
LCE1F	353137	broad.mit.edu	37	1	152749095	152749095	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:152749095G>A	uc010pdv.2	+	0	248	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	83	Poly-Arg.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGACGGCGTAGGTCCCAC	0.706													A	152749095	G	A	152749095	3	1	41	1	0	0	0	0	1	0	0	0	8664	1145	40	1	250	1	LCE1F	1	152749095	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	73345586	152749095	96501526	4	2444											
TOMM40L	84134	broad.mit.edu	37	1	161198259	161198259	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:161198259G>A	uc001fzd.3	+	7	878	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	TOMM40L_uc010pkl.1_Missense_Mutation_p.A183T|TOMM40L_uc009wue.3_Missense_Mutation_p.A99T|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.A217T	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	217					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCAGGCGGGGCCCATGCAAG	0.488													A	161198259	G	A	161198259	3	1	41	1	0	0	0	0	1	0	0	0	16356	1203	42	3	675	3	TOMM40L	1	161198259	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	8449164	161198259	88052362	5	2445											
FMOD	2331	broad.mit.edu	37	1	203316988	203316988	+	Silent	SNP	G	G	A	rs141206727		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:203316988G>A	uc001gzr.3	-	1	547	c.411C>T	c.(409-411)caC>caT	p.H137H		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	137					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTGGTTGCCGTGGAGAGCAA	0.557													A	203316988	G	A	203316988	2	1	41	1	0	0	0	0	0	0	0	1	5959	1136	40	1		1	FMOD	1	203316988	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	42118729	203316988	45933633	6	2446											
CHRM3	1131	broad.mit.edu	37	1	240071276	240071276	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:240071276G>A	uc021plc.1	+	0	525	c.525G>A	c.(523-525)acG>acA	p.T175T	CHRM3_uc001hyp.3_Silent_p.T175T	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	175					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.T175M(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)	GGCCGCTCACGTACCGAGCCA	0.507													A	240071276	G	A	240071276	2	1	41	1	0	0	0	0	0	0	0	1	3378	1132	40	1		1	CHRM3	1	240071276	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	36754288	240071276	9179345	7	2447											
OR2T3	343173	broad.mit.edu	37	1	248637245	248637245	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:248637245C>T	uc001iel.1	+	0	594	c.594C>T	c.(592-594)tcC>tcT	p.S198S		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CTGACGTCTCCCTCTATAAGA	0.522													T	248637245	C	T	248637245	2	4	41	1	0	0	0	0	0	0	0	1	11023	610	22	3		3	OR2T3	1	248637245	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	8565969	248637245	613376	8	2448											
HPCAL1	3241	broad.mit.edu	37	2	10560060	10560060	+	Silent	SNP	C	C	T	rs142524922		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:10560060C>T	uc002raj.3	+	2	551	c.177C>T	c.(175-177)ggC>ggT	p.G59G	HPCAL1_uc002ral.3_Silent_p.G59G|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.G59G	NM_002149	NP_602293	P37235	HPCL1_HUMAN	Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.	59							calcium ion binding	p.G59S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TCCCCTACGGCGACGCTTCCA	0.602													T	10560060	C	T	10560060	2	4	41	1	0	0	0	0	0	0	0	1	7330	755	27	1		1	HPCAL1	2	10560060	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08		10560060	232639313	9	2449											
IWS1	55677	broad.mit.edu	37	2	128262546	128262547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:128262546_128262547insG	uc002ton.2	-	2	1235_1236	c.932_933insC	c.(931-933)cctfs	p.P311fs	IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	311	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCAGGCCCCTTCTG	0.54													G	128262547	-	G	128262546	7	5	41	1	0	1	1	0	0	0	0	0	7931	175	7	0	1574	0	IWS1	2	128262546	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08	117702486	128262546	114936827	10	2450											
FAM123C	205147	broad.mit.edu	37	2	131521170	131521170	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:131521170G>A	uc021voy.1	+	0	1525	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I	FAM123C_uc002trw.2_Missense_Mutation_p.V509I|FAM123C_uc010fmv.2_Missense_Mutation_p.V509I|FAM123C_uc010fms.1_Missense_Mutation_p.V509I|FAM123C_uc010fmt.1_Missense_Mutation_p.V509I|FAM123C_uc010fmu.1_Missense_Mutation_p.V509I	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	509										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CATGGGCATCGTCAGCTGGCT	0.677													A	131521170	G	A	131521170	3	1	41	1	0	0	0	0	1	0	0	0	5424	1145	40	1	1527	1	FAM123C	2	131521170	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	3258624	131521170	111678203	11	2451											
HECW2	57520	broad.mit.edu	37	2	197183877	197183877	+	Silent	SNP	G	G	A	rs111271189	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:197183877G>A	uc002utm.1	-	8	1920	c.1737C>T	c.(1735-1737)ggC>ggT	p.G579G	HECW2_uc002utl.1_Silent_p.G223G	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	579					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTGTCTGCGCCACTTGTGG	0.607													A	197183877	G	A	197183877	2	1	41	1	0	0	0	0	0	0	0	1	7043	1074	38	1		1	HECW2	2	197183877	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	65662707	197183877	46015496	12	2452											
ALS2CR12	130540	broad.mit.edu	37	2	202154207	202154207	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:202154207A>C	uc010ftg.3	-	13	1628	c.1184T>G	c.(1183-1185)aTc>aGc	p.I395S	ALS2CR12_uc002uya.4_Missense_Mutation_p.I372S|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	395					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTCCGTCAGGATCTGTATGGT	0.413													C	202154207	A	C	202154207	3	2	41	1	0	0	0	0	1	0	0	0	553	333	12	5	161	5	ALS2CR12	2	202154207	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	4970330	202154207	41045166	13	2453											
TRPM8	79054	broad.mit.edu	37	2	234869620	234869620	+	Silent	SNP	C	C	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:234869620C>A	uc002vvh.3	+	11	1603	c.1563C>A	c.(1561-1563)ctC>ctA	p.L521L	TRPM8_uc010fyj.3_Silent_p.L209L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	521						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGCCCTCCTCACGTTTGTCT	0.507													A	234869620	C	A	234869620	2	1	41	1	0	0	0	0	0	0	0	1	16589	813	29	5		5	TRPM8	2	234869620	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	32715413	234869620	8329753	14	2454											
GOLGA4	2803	broad.mit.edu	37	3	37369037	37369037	+	Nonsense_Mutation	SNP	T	T	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr3:37369037T>G	uc003cgv.3	+	13	6020	c.5660T>G	c.(5659-5661)tTa>tGa	p.L1887*	GOLGA4_uc010hgr.2_Nonsense_Mutation_p.L1448*|GOLGA4_uc003cgw.3_Nonsense_Mutation_p.L1909*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.L1768*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1887	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTACAGGCTTTACAACAGATG	0.353													G	37369037	T	G	37369037	4	3	41	1	0	0	0	0	0	1	0	0	6555	1764	61	5	5784	5	GOLGA4	3	37369037	Nonsense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		37369037	160653393	15	2455											
ATP13A4	84239	broad.mit.edu	37	3	193160209	193160209	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr3:193160209C>T	uc003ftd.3	-	18	2397	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E	ATP13A4_uc003fte.1_Silent_p.E763E|ATP13A4_uc011bsr.1_Silent_p.E234E|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	763					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGTGTTTCTTCTCTTCTACTA	0.433													T	193160209	C	T	193160209	2	4	41	1	0	0	0	0	0	0	0	1	1126	912	32	3		3	ATP13A4	3	193160209	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	155791172	193160209	4862221	16	2456											
TMEM174	134288	broad.mit.edu	37	5	72469988	72469988	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:72469988G>A	uc010izc.3	+	1	776	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	243						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TCTCTCCCTCGCTAGAGGCTA	0.478													A	72469988	G	A	72469988	3	1	41	1	0	0	0	0	1	0	0	0	16087	1087	38	1	734	1	TMEM174	5	72469988	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		72469988	108445272	17	2457											
PCDHGC5	8641	broad.mit.edu	37	5	140768990	140768990	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:140768990C>T	uc003lkc.2	+	0	1539	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	517	Cadherin 5.				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)			GGGTGGTGTTCGCGCAGCGCG	0.667													T	140768990	C	T	140768990	2	4	41	1	0	0	0	0	0	0	0	1	11571	883	31	2		2	PCDHGC5	5	140768990	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	68299002	140768990	40146270	18	2458											
WWC1	23286	broad.mit.edu	37	5	167868746	167868746	+	Nonsense_Mutation	SNP	G	G	A	rs148699341		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:167868746G>A	uc003lzu.3	+	15	2433	c.2340G>A	c.(2338-2340)tgG>tgA	p.W780*	WWC1_uc003lzv.3_Nonsense_Mutation_p.W780*|WWC1_uc011den.2_Nonsense_Mutation_p.W780*|WWC1_uc003lzw.3_Nonsense_Mutation_p.W579*|WWC1_uc010jjf.1_Nonsense_Mutation_p.W47*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	780	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.W780*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGACTCGCTGGTACAACCTTC	0.602													A	167868746	G	A	167868746	4	1	41	1	0	0	0	0	0	1	0	0	17408	1270	44	3	2402	3	WWC1	5	167868746	Nonsense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	27099756	167868746	13046514	19	2459											
OR2B2	81697	broad.mit.edu	37	6	27879956	27879956	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:27879956C>T	uc011dkw.2	-	0	219	c.142G>A	c.(142-144)Gtg>Atg	p.V48M		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V48E(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ACATGTGACACAAGAATTATT	0.388													T	27879956	C	T	27879956	3	4	41	1	0	0	0	0	1	0	0	0	10989	478	17	3	935	3	OR2B2	6	27879956	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		27879956	143235111	20	2460											
MAS1L	116511	broad.mit.edu	37	6	29455605	29455605	+	Silent	SNP	G	G	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:29455605G>C	uc011dlq.2	-	0	75	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	25						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGCTACATGAGAGAGATATCT	0.522													C	29455605	G	C	29455605	2	2	41	1	0	0	0	0	0	0	0	1	9321	929	33	5		5	MAS1L	6	29455605	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	1575649	29455605	141659462	21	2461											
HLA-F	3134	broad.mit.edu	37	6	29691648	29691648	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:29691648A>G	uc003nno.4	+	1	402	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	HLA-F_uc010jrl.3_Missense_Mutation_p.Q93R|HLA-F_uc003nnm.4_Missense_Mutation_p.Q93R|HLA-F_uc011dlx.1_Missense_Mutation_p.Q93R|HLA-F_uc011dly.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	93	Alpha-1.				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						GCCAACGCACAGACTGACCGA	0.682													G	29691648	A	G	29691648	3	3	41	1	0	0	0	0	1	0	0	0	7211	188	7	4	284	4	HLA-F	6	29691648	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	236043	29691648	141423419	22	2462											
AGPAT1	10554	broad.mit.edu	37	6	32139093	32139093	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:32139093G>A	uc003oae.3	-	1	516	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Missense_Mutation_p.T54M|AGPAT1_uc003oag.3_Missense_Mutation_p.T54M|AGPAT1_uc003oah.3_Missense_Mutation_p.R61C|AGPAT1_uc003oai.1_Missense_Mutation_p.R61C|AGPAT1_uc011dpl.2_5'UTR	NM_006411	NP_116130	Q99943	PLCA_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.	61					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCGACGTTGCGTCCTCGCACG	0.567													A	32139093	G	A	32139093	3	1	41	1	0	0	0	0	1	0	0	0	386	1145	40	1	694	1	AGPAT1	6	32139093	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	2447445	32139093	138975974	23	2463											
MAPK13	5603	broad.mit.edu	37	6	36099124	36099124	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:36099124G>A	uc003ols.3	+	1	294	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	66	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CGAGATCTTCGCCAAGCGCGC	0.662													A	36099124	G	A	36099124	3	1	41	1	0	0	0	0	1	0	0	0	9275	1087	38	1	202	1	MAPK13	6	36099124	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	3960031	36099124	135015943	24	2464											
TDRD6	221400	broad.mit.edu	37	6	46659003	46659003	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:46659003T>A	uc003oyj.3	+	0	3392	c.3138T>A	c.(3136-3138)gaT>gaA	p.D1046E	TDRD6_uc010jze.3_Missense_Mutation_p.D1046E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1046	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGTATACTGATGGAAACTGGT	0.358													A	46659003	T	A	46659003	3	1	41	1	0	0	0	0	1	0	0	0	15731	1461	51	5	3140	5	TDRD6	6	46659003	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	10559879	46659003	124456064	25	2465											
TAAR1	134864	broad.mit.edu	37	6	132966960	132966960	+	Silent	SNP	G	G	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:132966960G>C	uc003qdm.1	-	0	183	c.183C>G	c.(181-183)ctC>ctG	p.L61L		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	61						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TGGAATGAATGAGCCAATTTG	0.423													C	132966960	G	C	132966960	2	2	41	1	0	0	0	0	0	0	0	1	15486	1277	45	5		5	TAAR1	6	132966960	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	86307957	132966960	38148107	26	2466											
GRM1	2911	broad.mit.edu	37	6	146350618	146350618	+	Translation_Start_Site	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:146350618C>T	uc010khw.1	+	1					GRM1_uc010khu.1_5'UTR|GRM1_uc010khv.1_5'UTR|GRM1_uc003qll.2_5'UTR|GRM1_uc011edz.1_5'UTR|GRM1_uc011eea.1_5'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.						synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			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)	AGCGTGGGAACGCGGCTGGCA	0.647													T	146350618	C	T	146350618	1	4	41	1	0	0	0	0	0	0	0	0	6796	551	19	1		1	GRM1	6	146350618	Translation_Start_Site	SNP	C	TCGA-06-0192-01B-01W-0348-08	13383658	146350618	24764449	27	2467											
SNX9	51429	broad.mit.edu	37	6	158331016	158331016	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:158331016C>T	uc003qqv.1	+	8	1081	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	303	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAGTTTGGGTCAGCCATTCCA	0.408													T	158331016	C	T	158331016	3	4	41	1	0	0	0	0	1	0	0	0	14909	838	29	3	942	3	SNX9	6	158331016	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	11980398	158331016	12784051	28	2468											
GPR141	353345	broad.mit.edu	37	7	37780793	37780793	+	Silent	SNP	C	C	T	rs146749644	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:37780793C>T	uc003tfm.1	+	0	798	c.798C>T	c.(796-798)aaC>aaT	p.N266N	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	266						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N266K(2)|p.Y265C(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATTTTATAACGAAATCTTCT	0.383													T	37780793	C	T	37780793	2	4	41	1	0	0	0	0	0	0	0	1	6649	535	19	1		1	GPR141	7	37780793	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08		37780793	121357870	29	2469											
ABCB1	5243	broad.mit.edu	37	7	87190658	87190658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:87190658delC	uc003uiz.2	-	8	1241	c.748delG	c.(748-750)gctfs	p.A250fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.A186fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	250	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.A250T(2)|p.K249E(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ACTGCTCCAGCTTTTGCATAC	0.318													-	87190658	C	-	87190658	7	5	41	1	0	1	0	1	0	0	0	0	40	797	28	0	3178	0	ABCB1	7	87190658	Frame_Shift_Del	DEL	C	TCGA-06-0192-01B-01W-0348-08	49409865	87190658	71948005	30	2470											
HIPK2	28996	broad.mit.edu	37	7	139316027	139316027	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:139316027G>A	uc003vvf.4	-	3	1502	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	HIPK2_uc003vvd.4_Missense_Mutation_p.R411W	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	411	Interaction with DAXX.|Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.R411Q(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAAATATACCGAATCTGCAAG	0.408													A	139316027	G	A	139316027	3	1	41	1	0	0	0	0	1	0	0	0	7117	1057	37	2	2413	2	HIPK2	7	139316027	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	52125369	139316027	19822636	31	2471											
KEL	3792	broad.mit.edu	37	7	142658446	142658446	+	Splice_Site	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:142658446C>T	uc003wcb.3	-	3	433	c.223_splice	c.e3+1	p.R75_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	75					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)					ATCTTGCTTACGAGGGCCACA	0.602													T	142658446	C	T	142658446	5	4	41	1	0	0	0	0	0	0	1	0	8142	550	19	1	2042	1	KEL	7	142658446	Splice_Site	SNP	C	TCGA-06-0192-01B-01W-0348-08	3342419	142658446	16480217	32	2472											
PCM1	5108	broad.mit.edu	37	8	17872225	17872226	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr8:17872225_17872226insA	uc022asj.1	+	34	5856_5857	c.5834_5835insA	c.(5833-5835)ttafs	p.L1945fs	PCM1_uc003wyi.4_Frame_Shift_Ins_p.L1906fs|PCM1_uc011kyh.2_Frame_Shift_Ins_p.L1898fs|PCM1_uc003wyj.4_Intron|PCM1_uc011kyi.2_Frame_Shift_Ins_p.L705fs|PCM1_uc011kyj.2_Frame_Shift_Ins_p.L662fs|PCM1_uc003wyk.4_Frame_Shift_Ins_p.L588fs|PCM1_uc011kyk.2_Frame_Shift_Ins_p.L522fs	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1906	Interaction with BBS4.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CCTTTGCCGTTACGTTTACCTG	0.436			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								A	17872226	-	A	17872225	7	5	41	1	0	1	1	0	0	0	0	0	11584	1764	61	0	5851	0	PCM1	8	17872225	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08		17872225	128491797	33	2473											
PRUNE2	158471	broad.mit.edu	37	9	79322930	79322930	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr9:79322930G>A	uc010mpk.3	-	7	4384	c.4260C>T	c.(4258-4260)tcC>tcT	p.S1420S	PRUNE2_uc022bih.1_Silent_p.S1242S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1420					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.S1420S(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTTATCTGCGGACATCCCTG	0.443													A	79322930	G	A	79322930	2	1	41	1	0	0	0	0	0	0	0	1	12641	1103	39	2		2	PRUNE2	9	79322930	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08		79322930	61890501	34	2474											
KLF6	1316	broad.mit.edu	37	10	3827115	3827115	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:3827115T>C	uc001iha.3	-	0	359	c.92A>G	c.(91-93)tAc>tGc	p.Y31C	KLF6_uc010qaj.2_Missense_Mutation_p.Y31C|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.Y31C|KLF6_uc001ihb.2_Missense_Mutation_p.Y31C	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	31					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGTTGCCAGTACTCCTCCAG	0.687													C	3827115	T	C	3827115	3	2	41	1	0	0	0	0	1	0	0	0	8350	1638	57	4	775	4	KLF6	10	3827115	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		3827115	131707632	35	2475											
FAM21C	253725	broad.mit.edu	37	10	46265058	46265058	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:46265058C>T	uc001jcu.3	+	19	2149	c.2031C>T	c.(2029-2031)gcC>gcT	p.A677A	FAM21C_uc001jcs.2_Silent_p.A620A|FAM21C_uc010qfk.2_Silent_p.A677A|FAM21C_uc010qfi.2_Silent_p.A653A|FAM21C_uc010qfj.2_5'UTR	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	677										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						TTGCCATTGCCAAGGACAGGT	0.478													T	46265058	C	T	46265058	2	4	41	1	0	0	0	0	0	0	0	1	5542	581	21	3		3	FAM21C	10	46265058	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	42437943	46265058	89269689	36	2476											
PTEN	5728	broad.mit.edu	37	10	89720794	89720794	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:89720794T>A	uc001kfb.3	+	7	1977	c.945T>A	c.(943-945)taT>taA	p.Y315*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	315	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.E314fs*3(3)|p.Y315fs*9(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.E314*(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.E314K(1)|p.L316fs*2(1)|p.E314fs*11(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGGAATATCTAGTACTTA	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720794	T	A	89720794	4	1	41	1	0	0	0	0	0	1	0	0	12738	1442	50	5	975	5	PTEN	10	89720794	Nonsense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	43455736	89720794	45813953	37	2477											
TPP1	1200	broad.mit.edu	37	11	6637552	6637552	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:6637552C>T	uc001mel.1	-	7	1130	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	TPP1_uc001mek.1_Missense_Mutation_p.A114T	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	357					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		TCACCTGAGGCGAAGAGCAGG	0.567													T	6637552	C	T	6637552	3	4	41	1	0	0	0	0	1	0	0	0	16408	768	27	1	646	1	TPP1	11	6637552	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		6637552	128368964	38	2478											
CTR9	9646	broad.mit.edu	37	11	10774300	10774300	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:10774300A>G	uc001mja.3	+	1	276	c.127A>G	c.(127-129)Ata>Gta	p.I43V		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	43					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACAACTGCACATATGGATTGC	0.363													G	10774300	A	G	10774300	3	3	41	1	0	0	0	0	1	0	0	0	4024	217	8	4	133	4	CTR9	11	10774300	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	4136748	10774300	124232216	39	2479											
LUZP2	338645	broad.mit.edu	37	11	24936063	24936063	+	Silent	SNP	G	G	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:24936063G>C	uc001mqs.3	+	6	775	c.501G>C	c.(499-501)ggG>ggC	p.G167G	LUZP2_uc009yif.3_Silent_p.G81G|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	167	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCGTTATGGGAAGAAGGATT	0.318													C	24936063	G	C	24936063	2	2	41	1	0	0	0	0	0	0	0	1	9087	1161	41	5		5	LUZP2	11	24936063	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	14161763	24936063	110070453	40	2480											
LRP4	4038	broad.mit.edu	37	11	46880714	46880714	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:46880714G>A	uc001ndn.4	-	37	5781	c.5538C>T	c.(5536-5538)gaC>gaT	p.D1846D	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Silent_p.D88D	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1846					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			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)		TGGACACCGTGTCTGTCTTCA	0.582													A	46880714	G	A	46880714	2	1	41	1	0	0	0	0	0	0	0	1	8959	1368	48	3		3	LRP4	11	46880714	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	21944651	46880714	88125802	41	2481											
OR5F1	338674	broad.mit.edu	37	11	55761167	55761167	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:55761167G>A	uc010riv.2	-	0	935	c.935C>T	c.(934-936)tCc>tTc	p.S312F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					TCACAGAAAGGAAGAGGTCCT	0.338													A	55761167	G	A	55761167	3	1	41	1	0	0	0	0	1	0	0	0	11158	1174	41	3	12	3	OR5F1	11	55761167	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	8880453	55761167	79245349	42	2482											
OR9G9	504191	broad.mit.edu	37	11	56468297	56468297	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:56468297C>A	uc010rjn.2	+	0	434	c.434C>A	c.(433-435)gCa>gAa	p.A145E	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TTGCTGGTAGCAGTCTCATAT	0.463													A	56468297	C	A	56468297	3	1	41	1	0	0	0	0	1	0	0	0	11252	710	25	5	436	5	OR9G9	11	56468297	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	707130	56468297	78538219	43	2483											
DPF2	5977	broad.mit.edu	37	11	65107936	65107936	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:65107936G>A	uc001odm.3	+	1	246	c.113G>A	c.(112-114)cGc>cAc	p.R38H	DPF2_uc010roe.2_Missense_Mutation_p.R38H	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	38					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CGCAGCGTGCGCCTGCCTTTC	0.552													A	65107936	G	A	65107936	3	1	41	1	0	0	0	0	1	0	0	0	4717	1087	38	1	119	1	DPF2	11	65107936	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	8639639	65107936	69898580	44	2484											
PGR	5241	broad.mit.edu	37	11	100999454	100999454	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:100999454G>C	uc001pgh.2	-	0	1091	c.348C>G	c.(346-348)gaC>gaG	p.D116E	PGR_uc001pgi.2_Missense_Mutation_p.D116E|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	116	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCAACAGAGTGTCCAAGACAC	0.622													C	100999454	G	C	100999454	3	2	41	1	0	0	0	0	1	0	0	0	11805	1368	48	5	2485	5	PGR	11	100999454	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	35891518	100999454	34007062	45	2485											
DDI1	414301	broad.mit.edu	37	11	103908056	103908056	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:103908056A>C	uc001phr.2	+	0	749	c.506A>C	c.(505-507)gAa>gCa	p.E169A	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	169					proteolysis		aspartic-type endopeptidase activity	p.E169D(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCCTTGGCGGAAGCCCTGCTC	0.602													C	103908056	A	C	103908056	3	2	41	1	0	0	0	0	1	0	0	0	4328	246	9	5	508	5	DDI1	11	103908056	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	2908602	103908056	31098460	46	2486											
SPATA19	219938	broad.mit.edu	37	11	133711992	133711992	+	Missense_Mutation	SNP	C	C	T	rs140608295		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:133711992C>T	uc001qgv.1	-	5	497	c.446G>A	c.(445-447)cGt>cAt	p.R149H		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	149					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATCTGTAAGACGGGATATGCT	0.602													T	133711992	C	T	133711992	3	4	41	1	0	0	0	0	1	0	0	0	15003	536	19	1	61	1	SPATA19	11	133711992	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	29803936	133711992	1294524	47	2487											
CLEC1A	51267	broad.mit.edu	37	12	10241786	10241786	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:10241786C>T	uc001qxb.3	-	1	235	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CLEC1A_uc001qxd.3_Intron|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	51					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AGGGTCAGGGCCACTGGTCGC	0.547													T	10241786	C	T	10241786	3	4	41	1	0	0	0	0	1	0	0	0	3505	739	26	3	711	3	CLEC1A	12	10241786	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		10241786	123610109	48	2488											
SLCO1B3	338821	broad.mit.edu	37	12	21168708	21168708	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:21168708G>A	uc010sil.2	+						SLCO1B3_uc010sim.2_Intron|SLCO1B3_uc010sin.2_Missense_Mutation_p.E27K			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.E27K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGGAAGCTTCGAAATAGGTAG	0.308													A	21168708	G	A	21168708	3	1	41	1	0	0	0	0	1	0	0	0	14724	1059	37	2		2	SLCO1B3	12	21168708	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	10926922	21168708	112683187	49	2489											
ABCC9	10060	broad.mit.edu	37	12	22005399	22005399	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:22005399T>C	uc001rfh.3	-	20	2566	c.2546A>G	c.(2545-2547)cAt>cGt	p.H849R	ABCC9_uc001rfi.1_Missense_Mutation_p.H849R	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	849	ABC transporter 1.				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			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)	CTGCATTAAATGATCACTCAA	0.403													C	22005399	T	C	22005399	3	2	41	1	0	0	0	0	1	0	0	0	59	1464	51	4	2317	4	ABCC9	12	22005399	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	836691	22005399	111846496	50	2490											
ARNTL2	56938	broad.mit.edu	37	12	27521311	27521311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:27521311C>T	uc001rht.2	+	1	367	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ARNTL2_uc001rhu.2_Nonsense_Mutation_p.R50*|ARNTL2_uc001rhv.2_Nonsense_Mutation_p.R50*|ARNTL2_uc001rhw.3_Nonsense_Mutation_p.R61*|ARNTL2_uc010sjp.2_Nonsense_Mutation_p.R61*|ARNTL2_uc009zji.2_Nonsense_Mutation_p.R50*	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	50					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R50*(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGAGTTTCCACGAAAACGCAA	0.483													T	27521311	C	T	27521311	4	4	41	1	0	0	0	0	0	1	0	0	968	528	19	1	154	1	ARNTL2	12	27521311	Nonsense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	5515912	27521311	106330584	51	2491											
ASB8	140461	broad.mit.edu	37	12	48543629	48543629	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:48543629G>T	uc001rrh.3	-	3	556	c.387C>A	c.(385-387)aaC>aaA	p.N129K	ASB8_uc010slr.2_Missense_Mutation_p.N129K	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 8 (ASB8), mRNA.	129					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						ACTCAGCATTGTTCTTAAAGG	0.527													T	48543629	G	T	48543629	3	4	41	1	0	0	0	0	1	0	0	0	1029	1368	48	5	483	5	ASB8	12	48543629	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	21022318	48543629	85308266	52	2492											
SMARCC2	6601	broad.mit.edu	37	12	56563342	56563342	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:56563342C>T	uc001skb.3	-	23	2699	c.2593G>A	c.(2593-2595)Gcc>Acc	p.A865T	SMARCC2_uc001skd.3_Missense_Mutation_p.A896T|SMARCC2_uc001ska.3_Missense_Mutation_p.A896T|SMARCC2_uc001skc.3_Missense_Mutation_p.A895T|SMARCC2_uc010sqf.2_Missense_Mutation_p.A785T	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	865	Poly-Ala.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			gcggccagggcggcggcagca	0.572													T	56563342	C	T	56563342	3	4	41	1	0	0	0	0	1	0	0	0	14776	768	27	1	1071	1	SMARCC2	12	56563342	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	8019713	56563342	77288553	53	2493											
FGD6	55785	broad.mit.edu	37	12	95603382	95603382	+	Missense_Mutation	SNP	G	G	A	rs149076340	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:95603382G>A	uc001tdp.4	-	1	1902	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	560					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTGAAGCCCGTTTAGGCATA	0.423													A	95603382	G	A	95603382	3	1	41	1	0	0	0	0	1	0	0	0	5837	1144	40	1	2694	1	FGD6	12	95603382	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	39040040	95603382	38248513	54	2494											
CDK17	5128	broad.mit.edu	37	12	96688901	96688901	+	Splice_Site	SNP	C	C	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:96688901C>G	uc001tep.2	-	10	1506	c.874_splice	c.e10-1	p.L292_splice	CDK17_uc009ztk.3_Splice_Site_p.L292_splice|CDK17_uc010svb.2_Splice_Site_p.L239_splice	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	292	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACAGAAACAGCTACAGAAACA	0.358													G	96688901	C	G	96688901	5	3	41	1	0	0	0	0	0	0	1	0	3133	811	28	5	768	5	CDK17	12	96688901	Splice_Site	SNP	C	TCGA-06-0192-01B-01W-0348-08	1085519	96688901	37162994	55	2495											
ZIC2	7546	broad.mit.edu	37	13	100634942	100634942	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr13:100634942G>A	uc001von.3	+	0	917	c.624G>A	c.(622-624)gcG>gcA	p.A208A		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	208	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTCGGCGGCGCAACTCCACA	0.677													A	100634942	G	A	100634942	2	1	41	1	0	0	0	0	0	0	0	1	17676	1074	38	1		1	ZIC2	13	100634942	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08		100634942	14534936	56	2496											
MDGA2	161357	broad.mit.edu	37	14	47530541	47530541	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr14:47530541G>A	uc001wwj.4	-	6	1594	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M	MDGA2_uc001wwi.4_Missense_Mutation_p.T181M|MDGA2_uc010ani.3_5'UTR	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	410	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428													A	47530541	G	A	47530541	3	1	41	1	0	0	0	0	1	0	0	0	9407	1145	40	1	1685	1	MDGA2	14	47530541	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		47530541	59818999	57	2497											
OR4N4	283694	broad.mit.edu	37	15	22382513	22382513	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:22382513T>A	uc001yuc.1	+	6	1022	c.41T>A	c.(40-42)cTc>cAc	p.L14H	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.L14H	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I13I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GAATTTATCCTCCTTGGTCTG	0.343													A	22382513	T	A	22382513	3	1	41	1	0	0	0	0	1	0	0	0	11078	1551	54	5	43	5	OR4N4	15	22382513	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		22382513	80148879	58	2498											
GABRB3	2562	broad.mit.edu	37	15	26812854	26812854	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:26812854A>G	uc001zbb.3	-	7	980	c.877T>C	c.(877-879)Ttt>Ctt	p.F293L	GABRB3_uc021sgg.1_Missense_Mutation_p.F166L|GABRB3_uc021sgh.1_Missense_Mutation_p.F152L|GABRB3_uc001zaz.3_Missense_Mutation_p.F237L|GABRB3_uc001zba.3_Missense_Mutation_p.F237L	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	237					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.H292Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTCAACCGAAAGCTCAGTGAC	0.418													G	26812854	A	G	26812854	3	3	41	1	0	0	0	0	1	0	0	0	6168	72	3	4	724	4	GABRB3	15	26812854	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	4430341	26812854	75718538	59	2499											
TTBK2	146057	broad.mit.edu	37	15	43038437	43038437	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:43038437G>A	uc001zqo.2	-	14	3730	c.3291C>T	c.(3289-3291)gtC>gtT	p.V1097V	TTBK2_uc010bcy.2_Silent_p.V1028V|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1097			V -> A (in dbSNP:rs55796513).		cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TACTCCCTAGGACTTTATATC	0.393													A	43038437	G	A	43038437	2	1	41	1	0	0	0	0	0	0	0	1	16674	1161	41	3		3	TTBK2	15	43038437	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	16225583	43038437	59492955	60	2500											
USP50	373509	broad.mit.edu	37	15	50838708	50838708	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:50838708C>T	uc021sky.1	-	0	195	c.15G>A	c.(13-15)ccG>ccA	p.P5P	USP50_uc021skx.1_5'Flank	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.	5					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		CAGGGAGAGACGGCTGAGAAG	0.453													T	50838708	C	T	50838708	2	4	41	1	0	0	0	0	0	0	0	1	17079	523	19	1		1	USP50	15	50838708	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	7800271	50838708	51692684	61	2501											
GRIN2A	2903	broad.mit.edu	37	16	9858210	9858210	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:9858210G>A	uc010uym.2	-	13	3501	c.3191C>T	c.(3190-3192)aCg>aTg	p.T1064M	GRIN2A_uc002czo.4_Missense_Mutation_p.T1064M|GRIN2A_uc010uyn.2_Missense_Mutation_p.T907M|GRIN2A_uc002czr.4_Missense_Mutation_p.T1064M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1064					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T1064T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGATTTGACGTTTCTGAAAT	0.507													A	9858210	G	A	9858210	3	1	41	1	0	0	0	0	1	0	0	0	6779	1145	40	1	1207	1	GRIN2A	16	9858210	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		9858210	80496543	62	2502											
HERPUD1	9709	broad.mit.edu	37	16	56973164	56973164	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:56973164G>A	uc002eke.1	+	4	856	c.447G>A	c.(445-447)caG>caA	p.Q149Q	HERPUD1_uc002ekf.1_Silent_p.Q148Q|HERPUD1_uc002ekg.1_Silent_p.Q124Q|HERPUD1_uc010cco.1_Silent_p.Q210Q|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_5'UTR	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	149						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AAGCTGCCCAGCAGGCATTCC	0.423			T	ERG	prostate								A	56973164	G	A	56973164	2	1	41	1	0	0	0	0	0	0	0	1	7063	962	34	3		3	HERPUD1	16	56973164	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	47114954	56973164	33381589	63	2503											
TAT	6898	broad.mit.edu	37	16	71603782	71603782	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:71603782C>T	uc002fap.2	-	9	1199	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	367					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCCAGAAGGGCGGACTGGCCG	0.512													T	71603782	C	T	71603782	3	4	41	1	0	0	0	0	1	0	0	0	15587	768	27	1	276	1	TAT	16	71603782	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	14630618	71603782	18750971	64	2504											
NF1	4763	broad.mit.edu	37	17	29677208	29677209	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:29677208_29677209insA	uc002hgg.3	+	49	7712_7713	c.7329_7330insA	c.(7327-7332)cttacafs	p.L2443fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.L2422fs|NF1_uc010cso.3_Frame_Shift_Ins_p.L631fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2443					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGCTTTACTTACAGTGTCTGA	0.356			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29677209	-	A	29677208	7	5	41	1	0	1	1	0	0	0	0	0	10356	1741	61	0	7588	0	NF1	17	29677208	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08		29677208	51518002	65	2505											
MYO1D	4642	broad.mit.edu	37	17	31105570	31105570	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:31105570G>A	uc002hho.1	-	2	338	c.326C>T	c.(325-327)aCg>aTg	p.T109M	MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.2_Missense_Mutation_p.T109M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	109	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTGGCTTCCGTTTTACCAGC	0.393													A	31105570	G	A	31105570	3	1	41	1	0	0	0	0	1	0	0	0	10071	1145	40	1	2774	1	MYO1D	17	31105570	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	1428362	31105570	50089640	66	2506											
HOXB13	10481	broad.mit.edu	37	17	46804366	46804366	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:46804366C>T	uc002ioa.3	-	1	797	c.641G>A	c.(640-642)cGt>cAt	p.R214H	MIR3185_uc021tzl.1_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	214					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCGGCCGCGACGAAAGGCGCA	0.622													T	46804366	C	T	46804366	3	4	41	1	0	0	0	0	1	0	0	0	7300	536	19	1	217	1	HOXB13	17	46804366	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	15698796	46804366	34390844	67	2507											
ANKRD30B	374860	broad.mit.edu	37	18	14851607	14851607	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr18:14851607C>T	uc010dlo.2	+	35	3487	c.3307C>T	c.(3307-3309)Cat>Tat	p.H1103Y	ANKRD30B_uc021uhy.1_Missense_Mutation_p.H1103Y|ANKRD30B_uc010xal.1_Missense_Mutation_p.H245Y	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1188										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CACACTGAAACATCAACACCA	0.343													T	14851607	C	T	14851607	3	4	41	1	0	0	0	0	1	0	0	0	659	478	17	3	3449	3	ANKRD30B	18	14851607	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		14851607	63225641	68	2508											
DSG3	1830	broad.mit.edu	37	18	29052301	29052301	+	Missense_Mutation	SNP	T	T	A	rs113457225		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr18:29052301T>A	uc002kws.3	+	12	2061	c.1952T>A	c.(1951-1953)gTg>gAg	p.V651E	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	651					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.G650V(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTGGGGGAGTGACAGGTGGT	0.478													A	29052301	T	A	29052301	3	1	41	1	0	0	0	0	1	0	0	0	4778	1696	59	5	2002	5	DSG3	18	29052301	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	14200694	29052301	49024947	69	2509											
LPHN1	22859	broad.mit.edu	37	19	14261968	14261968	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:14261968C>T	uc010xnn.2	-	23	4438	c.4142G>A	c.(4141-4143)cGg>cAg	p.R1381Q	LPHN1_uc010xno.2_Missense_Mutation_p.R1376Q|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1381					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGGAGTCCCGGCCAGGAGG	0.731													T	14261968	C	T	14261968	3	4	41	1	0	0	0	0	1	0	0	0	8915	652	23	2	286	2	LPHN1	19	14261968	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		14261968	44867015	70	2510											
CYP4F3	4051	broad.mit.edu	37	19	15770048	15770048	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:15770048G>A	uc010xok.2	+	12	1466	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	CYP4F3_uc010xol.2_Silent_p.A472A|CYP4F3_uc002nbj.3_Silent_p.A472A|CYP4F3_uc010xom.2_Silent_p.A323A|CYP4F3_uc002nbk.3_Silent_p.A472A|CYP4F3_uc010xon.2_Silent_p.A182A	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	472					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCGGGCAGGCGTTCGCGATGG	0.672													A	15770048	G	A	15770048	2	1	41	1	0	0	0	0	0	0	0	1	4190	1132	40	1		1	CYP4F3	19	15770048	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	1508080	15770048	43358935	71	2511											
CYP4F2	8529	broad.mit.edu	37	19	15989728	15989728	+	Silent	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:15989728C>T	uc002nbs.1	-	12	1466	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	CYP4F2_uc010xot.1_Silent_p.T323T	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	472					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.T472A(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCATCGCGAACGTCTGCCCGA	0.672													T	15989728	C	T	15989728	2	4	41	1	0	0	0	0	0	0	0	1	4188	523	19	1		1	CYP4F2	19	15989728	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	219680	15989728	43139255	72	2512											
ZNF430	80264	broad.mit.edu	37	19	21239692	21239692	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:21239692A>G	uc002npj.3	+	4	759	c.578A>G	c.(577-579)aAt>aGt	p.N193S	ZNF430_uc002npk.3_Missense_Mutation_p.N192S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAAATCCAAATATACAAAAG	0.279													G	21239692	A	G	21239692	3	3	41	1	0	0	0	0	1	0	0	0	17901	101	4	4	596	4	ZNF430	19	21239692	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	5249964	21239692	37889291	73	2513											
IRGC	56269	broad.mit.edu	37	19	44223553	44223553	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:44223553G>A	uc002oxh.3	+	1	990	c.843G>A	c.(841-843)ccG>ccA	p.P281P	IRGC_uc021uvh.1_Silent_p.P281P	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	281						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGGCCCTGCCGGTCCCAGGGC	0.632													A	44223553	G	A	44223553	2	1	41	1	0	0	0	0	0	0	0	1	7838	1103	39	2		2	IRGC	19	44223553	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	22983861	44223553	14905430	74	2514											
ZNF296	162979	broad.mit.edu	37	19	45575604	45575605	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:45575604_45575605insG	uc002pao.3	-	2	739_740	c.682_683insC	c.(682-684)cggfs	p.R228fs		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	228					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGGGCTCCGCCGGGTGAGGCCG	0.678													G	45575605	-	G	45575604	7	5	41	1	0	1	1	0	0	0	0	0	17825	652	23	0	748	0	ZNF296	19	45575604	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08	1352051	45575604	13553379	75	2515											
PLCG1	5335	broad.mit.edu	37	20	39801169	39801169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr20:39801169G>A	uc002xjp.1	+	25	3135	c.3014G>A	c.(3013-3015)cGa>cAa	p.R1005Q	PLCG1_uc002xjo.1_Missense_Mutation_p.R1005Q|PLCG1_uc010zwe.1_Missense_Mutation_p.R631Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1005	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGTACAATCGACTGCAGCTC	0.542													A	39801169	G	A	39801169	3	1	41	1	0	0	0	0	1	0	0	0	12035	1058	37	2	3116	2	PLCG1	20	39801169	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		39801169	23224351	76	2516											
TMPRSS15	5651	broad.mit.edu	37	21	19647560	19647560	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:19647560T>A	uc002ykw.3	-	23	2889	c.2858A>T	c.(2857-2859)aAt>aTt	p.N953I		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	953	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACATATCATATTTTCAGTAAT	0.383													A	19647560	T	A	19647560	3	1	41	1	0	0	0	0	1	0	0	0	16243	1493	52	5	209	5	TMPRSS15	21	19647560	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		19647560	28482335	77	2517											
MX2	4600	broad.mit.edu	37	21	42778692	42778692	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:42778692G>A	uc002yzf.1	+	12	1776	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	MX2_uc002yzg.1_Missense_Mutation_p.V281M|MX2_uc010gop.1_Missense_Mutation_p.V40M	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	558					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGACATAAAAGTGAAACACAC	0.343													A	42778692	G	A	42778692	3	1	41	1	0	0	0	0	1	0	0	0	9998	1029	36	3	1718	3	MX2	21	42778692	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	23131132	42778692	5351203	78	2518											
KRTAP10-3	386682	broad.mit.edu	37	21	45978487	45978487	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:45978487C>T	uc002zfj.1	-	0	157	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	38	18 X 5 AA repeats of C-C-X(3).					keratin filament		p.A38S(2)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGGGCCGGGGCGCAGCAGCTG	0.697													T	45978487	C	T	45978487	3	4	41	1	0	0	0	0	1	0	0	0	8510	768	27	1	557	1	KRTAP10-3	21	45978487	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	3199795	45978487	2151408	79	2519											
GAL3ST1	9514	broad.mit.edu	37	22	30951019	30951019	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr22:30951019A>C	uc003aig.1	-	3	1333	c.1193T>G	c.(1192-1194)aTc>aGc	p.I398S	GAL3ST1_uc003aih.1_Missense_Mutation_p.I398S|GAL3ST1_uc003aii.1_Missense_Mutation_p.I398S|GAL3ST1_uc010gvz.1_Missense_Mutation_p.I398S	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	398					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						CAGGTACTGGATCTCGGGCGT	0.642													C	30951019	A	C	30951019	3	2	41	1	0	0	0	0	1	0	0	0	6197	333	12	5	82	5	GAL3ST1	22	30951019	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08		30951019	20353547	80	2520											
CYBB	1536	broad.mit.edu	37	X	37663372	37663372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:37663372G>A	uc004ddr.2	+	8	1201	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Nonsense_Mutation_p.W348*|CYBB_uc011mkg.1_Nonsense_Mutation_p.W113*	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	380	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						AAGATGCGTGGAAACTACCTA	0.423													A	37663372	G	A	37663372	4	1	41	1	0	0	0	0	0	1	0	0	4133	1183	41	3	1174	3	CYBB	23	37663372	Nonsense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		37663372	117607188	81	2521											
ZCCHC5	203430	broad.mit.edu	37	X	77913863	77913863	+	Missense_Mutation	SNP	G	G	A	rs148985625		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:77913863G>A	uc022bzi.1	-	0	55	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	ZCCHC5_uc004edc.1_Missense_Mutation_p.R19W	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	19							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAGCCTGCCGAATTTCATTC	0.463													A	77913863	G	A	77913863	3	1	41	1	0	0	0	0	1	0	0	0	17588	1057	37	2	1376	2	ZCCHC5	23	77913863	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	40250491	77913863	77356697	82	2522											
GPR174	84636	broad.mit.edu	37	X	78426556	78426556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:78426556C>T	uc004edg.1	+	0	88	c.52C>T	c.(52-54)Cga>Tga	p.R18*		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	18						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R18*(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TACAGATTTTCGATACTTTAT	0.383										HNSCC(63;0.18)			T	78426556	C	T	78426556	4	4	41	1	0	0	0	0	0	1	0	0	6672	876	31	2	54	2	GPR174	23	78426556	Nonsense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	512693	78426556	76844004	83	2523											
NKAP	79576	broad.mit.edu	37	X	119077554	119077554	+	Silent	SNP	G	G	A			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:119077554G>A	uc004esh.3	-	0	182	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	5	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGCGTGAGCCGGACACCGGAG	0.692													A	119077554	G	A	119077554	2	1	41	1	0	0	0	0	0	0	0	1	10439	1103	39	2		2	NKAP	23	119077554	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	40650998	119077554	36193006	84	2524											
GJB5	2709	broad.mit.edu	37	1	35223555	35223555	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:35223555G>A	uc001bxu.3	+	1	724	c.624G>A	c.(622-624)ctG>ctA	p.L208L	GJB5_uc021okz.1_Silent_p.L208L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	208					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCATCTACCTGGTGAGCAAGA	0.552													A	35223555	G	A	35223555	2	1	42	1	0	0	0	0	0	0	0	1	6411	1335	47	3		3	GJB5	1	35223555	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		35223555	214027066	1	2525											
DMAP1	55929	broad.mit.edu	37	1	44684377	44684377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:44684377C>T	uc001clq.1	+	5	750	c.670C>T	c.(670-672)Cga>Tga	p.R224*	DMAP1_uc010okt.1_3'UTR|DMAP1_uc001clr.1_Nonsense_Mutation_p.R224*|DMAP1_uc001cls.1_Nonsense_Mutation_p.R224*|DMAP1_uc010oku.1_Nonsense_Mutation_p.R214*	NM_001034024	NP_061973	Q9NPF5	DMAP1_HUMAN	Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 3, mRNA.	224					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TGGGCACGAACGACGGCGGAA	0.572											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44684377	C	T	44684377	4	4	42	1	0	0	0	0	0	1	0	0	4576	528	19	1	688	1	DMAP1	1	44684377	Nonsense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	9460822	44684377	204566244	2	2526											
FLG	2312	broad.mit.edu	37	1	152286042	152286042	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:152286042G>A	uc001ezu.1	-	2	1356	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	440	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			CAGCCTTTCCGTGGCCTGACA	0.592									Ichthyosis				A	152286042	G	A	152286042	2	1	42	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152286042	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	107601665	152286042	96964579	3	2527											
NES	10763	broad.mit.edu	37	1	156640774	156640774	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:156640774T>A	uc001fpq.3	-	3	3339	c.3206A>T	c.(3205-3207)gAt>gTt	p.D1069V	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1069	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCACATCATCTTCCACCAG	0.682													A	156640774	T	A	156640774	3	1	42	1	0	0	0	0	1	0	0	0	10337	1435	50	5	1663	5	NES	1	156640774	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	4354732	156640774	92609847	4	2528											
C1orf129	80133	broad.mit.edu	37	1	170961421	170961421	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:170961421C>T	uc010plz.2	+	11	1299	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	C1orf129_uc001ghg.3_Missense_Mutation_p.T382M|C1orf129_uc009wvy.3_Missense_Mutation_p.T189M	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	382							binding	p.V381I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACACCGTAACGGAAGGGAAA	0.468													T	170961421	C	T	170961421	3	4	42	1	0	0	0	0	1	0	0	0	1996	536	19	1	1187	1	C1orf129	1	170961421	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	14320647	170961421	78289200	5	2529											
LHX9	56956	broad.mit.edu	37	1	197896816	197896816	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:197896816C>A	uc001guk.1	+	3	1266	c.829C>A	c.(829-831)Cac>Aac	p.H277N	LHX9_uc001gui.1_Missense_Mutation_p.H268N|LHX9_uc021pgw.1_Non-coding_Transcript	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	277					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTTCAAGCATCACCAGCTCCG	0.527													A	197896816	C	A	197896816	3	1	42	1	0	0	0	0	1	0	0	0	8777	826	29	5	875	5	LHX9	1	197896816	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	26935395	197896816	51353805	6	2530											
PCNXL2	80003	broad.mit.edu	37	1	233394108	233394108	+	Silent	SNP	T	T	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:233394108T>C	uc001hvl.2	-	4	1735	c.1500A>G	c.(1498-1500)acA>acG	p.T500T	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	500						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTCGGAGCCTGTATCAGGTG	0.562													C	233394108	T	C	233394108	2	2	42	1	0	0	0	0	0	0	0	1	11592	1567	55	4		4	PCNXL2	1	233394108	Silent	SNP	T	TCGA-06-0195-01B-01D-1491-08	35497292	233394108	15856513	7	2531											
GPR75	10936	broad.mit.edu	37	2	54080319	54080320	+	In_Frame_Ins	INS	-	-	TGCACTAAG			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:54080319_54080320insTGCACTAAG	uc021vhn.1	-	0	1574_1575	c.1574_1575insCTTAGTGCA	c.(1573-1575)cag>caCTTAGTGCAg	p.524_525insHLV	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_In_Frame_Ins_p.524_525insHLV	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	524						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTCATATTCCTGCACTAAGTC	0.411													TGCACTAAG	54080320	-	TGCACTAAG	54080319	7	5	42	1	0	1	1	0	0	0	0	0	6708	680	24	0	51	0	GPR75	2	54080319	In_Frame_Ins	INS	-	TCGA-06-0195-01B-01D-1491-08		54080319	189119054	8	2532											
CEP68	23177	broad.mit.edu	37	2	65309696	65309696	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:65309696G>A	uc002sdl.4	+	5	2345	c.2131G>A	c.(2131-2133)Gca>Aca	p.A711T	CEP68_uc010yqb.1_3'UTR|CEP68_uc002sdk.4_Missense_Mutation_p.A574T|CEP68_uc010yqc.2_Missense_Mutation_p.A711T	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	711					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGGGAGGATCGCAAAGCAGTC	0.463													A	65309696	G	A	65309696	3	1	42	1	0	0	0	0	1	0	0	0	3258	1087	38	1	2149	1	CEP68	2	65309696	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	11229377	65309696	177889677	9	2533											
TTN	7273	broad.mit.edu	37	2	179589211	179589211	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179589211G>A	uc021vsy.1	-	68	17384	c.17159C>T	c.(17158-17160)aCg>aTg	p.T5720M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2381M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6647	Ig-like 38.						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)			CAGAGTGCACGTTTCTCCTAC	0.478													A	179589211	G	A	179589211	3	1	42	1	0	0	0	0	1	0	0	0	16732	1145	40	1	83802	1	TTN	2	179589211	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	114279515	179589211	63610162	10	2534											
TTN	7273	broad.mit.edu	37	2	179637967	179637967	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179637967C>A	uc021vsy.1	-	32	7949	c.7724G>T	c.(7723-7725)aGt>aTt	p.S2575I	TTN_uc021vsz.1_Missense_Mutation_p.S2529I|TTN_uc021vta.1_Missense_Mutation_p.S2529I|TTN_uc021vtb.1_Missense_Mutation_p.S2529I|TTN_uc002unb.2_Missense_Mutation_p.S2575I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2575							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)			ATATTTAGAACTGGGCTTGAT	0.353													A	179637967	C	A	179637967	3	1	42	1	0	0	0	0	1	0	0	0	16732	565	20	5	103584	5	TTN	2	179637967	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	48756	179637967	63561406	11	2535											
CCDC141	285025	broad.mit.edu	37	2	179701794	179701794	+	Silent	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179701794C>T	uc002une.2	-	22	4270	c.4152G>A	c.(4150-4152)agG>agA	p.R1384R	CCDC141_uc002unf.1_Silent_p.R863R	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	809							protein binding			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)			GAACCATTTGCCTCTGATAGC	0.493													T	179701794	C	T	179701794	2	4	42	1	0	0	0	0	0	0	0	1	2775	738	26	3		3	CCDC141	2	179701794	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	63827	179701794	63497579	12	2536											
MPP4	58538	broad.mit.edu	37	2	202557686	202557686	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:202557686C>A	uc002uyk.4	-	2	354	c.146G>T	c.(145-147)gGa>gTa	p.G49V	MPP4_uc010ftj.3_Missense_Mutation_p.G49V|MPP4_uc010zhq.2_Missense_Mutation_p.G49V|MPP4_uc010zht.2_Missense_Mutation_p.G49V|MPP4_uc010zhr.2_Missense_Mutation_p.G49V|MPP4_uc010zhs.2_Missense_Mutation_p.G49V|MPP4_uc002uyj.4_Missense_Mutation_p.G49V|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.G49V|MPP4_uc002uym.1_Missense_Mutation_p.G62V|MPP4_uc002uyn.3_Missense_Mutation_p.G49V	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	49	L27 1.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GAGACACACTCCATTCACATC	0.547													A	202557686	C	A	202557686	3	1	42	1	0	0	0	0	1	0	0	0	9736	855	30	5	1847	5	MPP4	2	202557686	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	22855892	202557686	40641687	13	2537											
DIS3L2	129563	broad.mit.edu	37	2	233028324	233028324	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:233028324G>T	uc010fxz.3	+	8	1382	c.1106G>T	c.(1105-1107)aGc>aTc	p.S369I	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	369							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAGGAGTTCAGCAAGAGAAGG	0.433													T	233028324	G	T	233028324	3	4	42	1	0	0	0	0	1	0	0	0	4537	971	34	5	1136	5	DIS3L2	2	233028324	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	30470638	233028324	10171049	14	2538											
NEU2	4759	broad.mit.edu	37	2	233897493	233897493	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:233897493G>A	uc010zmn.2	+	0	112	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	38							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCTGGCCTTCGCGGAACAGCG	0.622													A	233897493	G	A	233897493	3	1	42	1	0	0	0	0	1	0	0	0	10342	1087	38	1	114	1	NEU2	2	233897493	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	869169	233897493	9301880	15	2539											
DGKD	8527	broad.mit.edu	37	2	234358633	234358633	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:234358633G>A	uc002vui.1	+	15	1906	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	DGKD_uc002vuj.1_Missense_Mutation_p.D588N|DGKD_uc010fyh.1_Missense_Mutation_p.D499N|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	632					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CACAGCTGTCGATGAGCAGAA	0.642													A	234358633	G	A	234358633	3	1	42	1	0	0	0	0	1	0	0	0	4467	1058	37	2	1980	2	DGKD	2	234358633	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	461140	234358633	8840740	16	2540											
TRIM71	131405	broad.mit.edu	37	3	32859692	32859692	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:32859692G>A	uc003cff.3	+	0	183	c.120G>A	c.(118-120)acG>acA	p.T40T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	40	Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACGTCCACGTCGTcggggg	0.736													A	32859692	G	A	32859692	2	1	42	1	0	0	0	0	0	0	0	1	16541	1132	40	1		1	TRIM71	3	32859692	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		32859692	165162738	17	2541											
SCAP	22937	broad.mit.edu	37	3	47460316	47460316	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:47460316G>A	uc003crh.1	-	13	2213	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	SCAP_uc011baz.1_Missense_Mutation_p.P398L|SCAP_uc003crg.2_Missense_Mutation_p.P261L	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	653					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGGATGACGGGCAGCAGGCT	0.706													A	47460316	G	A	47460316	3	1	42	1	0	0	0	0	1	0	0	0	13877	1232	43	3	1921	3	SCAP	3	47460316	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	14600624	47460316	150562114	18	2542											
FAM116A	201627	broad.mit.edu	37	3	57627463	57627463	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:57627463A>G	uc003dja.3	-	11	1120	c.1049T>C	c.(1048-1050)aTa>aCa	p.I350T		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	350										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TACTCCTAATATAACTGAGGG	0.328													G	57627463	A	G	57627463	3	3	42	1	0	0	0	0	1	0	0	0	5407	449	16	4	813	4	FAM116A	3	57627463	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	10167147	57627463	140394967	19	2543											
RUVBL1	8607	broad.mit.edu	37	3	127784027	127784027	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:127784027G>C	uc003ekf.3	-	9					SEC61A1_uc003ekb.3_Intron|SEC61A1_uc003ekc.3_Intron|SEC61A1_uc003ekd.3_Intron|SEC61A1_uc003ekg.3_5'UTR	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.						cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CAGGTTTCCAGATGAGCTGGA	0.448													C	127784027	G	C	127784027	3	2	42	1	0	0	0	0	1	0	0	0	13752	957	33	5		5	RUVBL1	3	127784027	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	70156564	127784027	70238403	20	2544											
TM4SF18	116441	broad.mit.edu	37	3	149051122	149051122	+	Silent	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:149051122C>A	uc021xfl.1	-	0	138	c.48G>T	c.(46-48)ccG>ccT	p.P16P	TM4SF18_uc003exa.3_Silent_p.P16P	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.	16						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGTGCAAGCGGAATCAGCA	0.443													A	149051122	C	A	149051122	2	1	42	1	0	0	0	0	0	0	0	1	15964	755	27	5		5	TM4SF18	3	149051122	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	21267095	149051122	48971308	21	2545											
AADAC	13	broad.mit.edu	37	3	151532029	151532029	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:151532029G>A	uc003eze.3	+	0	169	c.79G>A	c.(79-81)Gtt>Att	p.V27I	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	27					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCCAGATAACGTTGAGGAGCC	0.408													A	151532029	G	A	151532029	3	1	42	1	0	0	0	0	1	0	0	0	10	1145	40	1	81	1	AADAC	3	151532029	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	2480907	151532029	46490401	22	2546											
HTR3E	285242	broad.mit.edu	37	3	183822631	183822631	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:183822631G>A	uc010hxr.3	+	2	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	HTR3E_uc010hxq.3_Missense_Mutation_p.R149H|HTR3E_uc003fml.4_Missense_Mutation_p.R134H|HTR3E_uc003fmm.3_Missense_Mutation_p.R164H|HTR3E_uc003fmn.3_Missense_Mutation_p.R149H	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	149						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AATGAAGGTCGCATCAGGTAT	0.488													A	183822631	G	A	183822631	3	1	42	1	0	0	0	0	1	0	0	0	7448	1087	38	1	505	1	HTR3E	3	183822631	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	32290602	183822631	14199799	23	2547											
ATP13A4	84239	broad.mit.edu	37	3	193158372	193158372	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:193158372G>A	uc003ftd.3	-	20	2602	c.2494C>T	c.(2494-2496)Ctg>Ttg	p.L832L	ATP13A4_uc003fte.1_Silent_p.L832L|ATP13A4_uc011bsr.1_Silent_p.L303L|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	832					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTTCCACCAGACTGGACTTC	0.458													A	193158372	G	A	193158372	2	1	42	1	0	0	0	0	0	0	0	1	1126	933	33	3		3	ATP13A4	3	193158372	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	9335741	193158372	4864058	24	2548											
ZFYVE28	57732	broad.mit.edu	37	4	2306576	2306576	+	Silent	SNP	G	G	A	rs146596546	by1000genomes	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:2306576G>A	uc003gex.2	-	7	1811	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	ZFYVE28_uc011bvk.2_Silent_p.D427D|ZFYVE28_uc011bvl.2_Silent_p.D467D|ZFYVE28_uc003gew.2_Silent_p.D383D	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	497					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCGTCTCTGCGTCATCCGCAC	0.672													A	2306576	G	A	2306576	2	1	42	1	0	0	0	0	0	0	0	1	17667	1136	40	1		1	ZFYVE28	4	2306576	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		2306576	188847700	25	2549											
SH3TC1	54436	broad.mit.edu	37	4	8230213	8230213	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:8230213G>A	uc003gkv.4	+	11	2893	c.2792G>A	c.(2791-2793)cGg>cAg	p.R931Q	SH3TC1_uc003gkw.4_Missense_Mutation_p.R855Q|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	931							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAGGCCGTGCGGCTGTTCTCG	0.701													A	8230213	G	A	8230213	3	1	42	1	0	0	0	0	1	0	0	0	14261	1116	39	2	2834	2	SH3TC1	4	8230213	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	5923637	8230213	182924063	26	2550											
RBM47	54502	broad.mit.edu	37	4	40440789	40440789	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:40440789C>T	uc003gvc.2	-	3	832	c.122G>A	c.(121-123)cGc>cAc	p.R41H	RBM47_uc003gvd.2_Missense_Mutation_p.R41H|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R3H|RBM47_uc003gvg.1_Missense_Mutation_p.R41H	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	41						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTAGCCCGTGCGCTCCATCAG	0.731													T	40440789	C	T	40440789	3	4	42	1	0	0	0	0	1	0	0	0	13141	768	27	1	1675	1	RBM47	4	40440789	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	32210576	40440789	150713487	27	2551											
CSN3	1448	broad.mit.edu	37	4	71115169	71115169	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:71115169C>T	uc003hfe.4	+	3	600	c.542C>T	c.(541-543)aCg>aTg	p.T181M		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	181				TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence).		extracellular region	protein binding	p.T181M(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ACTCCACCTACGGCATAAAAA	0.413													T	71115169	C	T	71115169	3	4	42	1	0	0	0	0	1	0	0	0	3949	536	19	1	552	1	CSN3	4	71115169	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	30674380	71115169	120039107	28	2552											
ADAMTS16	170690	broad.mit.edu	37	5	5232628	5232628	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:5232628A>G	uc003jdl.3	+	12	1988	c.1850_splice	c.e12+1	p.K617_splice	ADAMTS16_uc003jdk.1_Splice_Site_p.K617_splice|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	617	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						CACCAACCCCAAGTAAGTATG	0.527													G	5232628	A	G	5232628	3	3	42	1	0	0	0	0	1	0	0	0	261	144	5	4	1895	4	ADAMTS16	5	5232628	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08		5232628	175682632	29	2553											
TRPC7	57113	broad.mit.edu	37	5	135587388	135587388	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:135587388C>T	uc003lbn.2	-	5	1750	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	TRPC7_uc010jef.2_Missense_Mutation_p.D446N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.D61N|TRPC7_uc010jeh.2_Missense_Mutation_p.D449N|TRPC7_uc010jei.2_Missense_Mutation_p.D394N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	510					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAGCGTGTCGTCCTGCACG	0.602													T	135587388	C	T	135587388	3	4	42	1	0	0	0	0	1	0	0	0	16581	884	31	2	1088	2	TRPC7	5	135587388	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	130354760	135587388	45327872	30	2554											
KIAA0141	9812	broad.mit.edu	37	5	141316857	141316857	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:141316857C>T	uc003lls.3	+	10	1366	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	KIAA0141_uc003llt.3_Missense_Mutation_p.S415L	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	415					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCAGCAGTCAGCCGCTCTG	0.562													T	141316857	C	T	141316857	3	4	42	1	0	0	0	0	1	0	0	0	8156	838	29	3	1286	3	KIAA0141	5	141316857	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	5729469	141316857	39598403	31	2555											
SOX30	11063	broad.mit.edu	37	5	157078323	157078323	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:157078323T>G	uc003lxb.1	-	0	1106	c.764A>C	c.(763-765)cAg>cCg	p.Q255P	SOX30_uc003lxc.1_Missense_Mutation_p.Q255P|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	255					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTCTTGCTGGTGCGGCCC	0.642													G	157078323	T	G	157078323	3	3	42	1	0	0	0	0	1	0	0	0	14952	1580	55	5	1517	5	SOX30	5	157078323	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	15761466	157078323	23836937	32	2556											
DNAH8	1769	broad.mit.edu	37	6	38709656	38709656	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:38709656delT	uc021yzh.1	+	7	1395	c.1286delT	c.(1285-1287)ctgfs	p.L429fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.L212fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.D428N(1)		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						CACTCCAAACTGCTAAAGGTA	0.343													-	38709656	T	-	38709656	7	5	42	1	0	1	0	1	0	0	0	0	4607	1580	55	0	649	0	DNAH8	6	38709656	Frame_Shift_Del	DEL	T	TCGA-06-0195-01B-01D-1491-08		38709656	132405411	33	2557											
FILIP1	27145	broad.mit.edu	37	6	76023600	76023600	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:76023600C>T	uc010kbe.3	-	5	2487	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	FILIP1_uc003phy.1_Missense_Mutation_p.E650K|FILIP1_uc003phz.3_Missense_Mutation_p.E551K|FILIP1_uc003pia.3_Missense_Mutation_p.E650K|FILIP1_uc003pib.1_Missense_Mutation_p.E402K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	650										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						AAATCCCCTTCGACCACTTCC	0.418													T	76023600	C	T	76023600	3	4	42	1	0	0	0	0	1	0	0	0	5894	893	31	2	1701	2	FILIP1	6	76023600	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	37313944	76023600	95091467	34	2558											
HTR1B	3351	broad.mit.edu	37	6	78172165	78172165	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:78172165A>C	uc003pil.1	-	0	956	c.956T>G	c.(955-957)aTt>aGt	p.I319S		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	319					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			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)	GGCTCCCAAAATGATCCCTAG	0.507													C	78172165	A	C	78172165	3	2	42	1	0	0	0	0	1	0	0	0	7437	101	4	5	220	5	HTR1B	6	78172165	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	2148565	78172165	92942902	35	2559											
HDAC2	3066	broad.mit.edu	37	6	114266601	114266601	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:114266601C>T	uc003pwd.2	-	9	1303	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	HDAC2_uc003pwc.2_Missense_Mutation_p.G309E|HDAC2_uc003pwe.2_Missense_Mutation_p.G309E	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	339					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GAAGTCTGGTCCAAAATACTC	0.299													T	114266601	C	T	114266601	3	4	42	1	0	0	0	0	1	0	0	0	7007	855	30	3	470	3	HDAC2	6	114266601	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	36094436	114266601	56848466	36	2560											
SYNE1	23345	broad.mit.edu	37	6	152644693	152644693	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:152644693G>A	uc021zhb.1	-	79	16060	c.15837C>T	c.(15835-15837)ctC>ctT	p.L5279L	SYNE1_uc003qot.4_Silent_p.L5208L|SYNE1_uc003qou.4_Silent_p.L5279L|SYNE1_uc010kiz.3_Silent_p.L1034L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5279					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			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)		CTCCATCCTGGAGCATGCTCA	0.567										HNSCC(10;0.0054)			A	152644693	G	A	152644693	2	1	42	1	0	0	0	0	0	0	0	1	15442	1161	41	3		3	SYNE1	6	152644693	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	38378092	152644693	18470374	37	2561											
TIAM2	26230	broad.mit.edu	37	6	155571053	155571053	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:155571053G>A	uc003qqb.3	+	22	5174	c.3901G>A	c.(3901-3903)Ggg>Agg	p.G1301R	TIAM2_uc003qqe.3_Missense_Mutation_p.G1301R|TIAM2_uc010kjj.3_Missense_Mutation_p.G834R|TIAM2_uc003qqf.3_Missense_Mutation_p.G677R|TIAM2_uc011efl.1_Missense_Mutation_p.G637R|TIAM2_uc003qqg.3_Missense_Mutation_p.G613R|TIAM2_uc003qqh.3_Missense_Mutation_p.G226R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1301					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGAGGATTATGGGACCGTGTT	0.473													A	155571053	G	A	155571053	3	1	42	1	0	0	0	0	1	0	0	0	15888	1348	47	3	3971	3	TIAM2	6	155571053	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	2926360	155571053	15544014	38	2562											
AMZ1	155185	broad.mit.edu	37	7	2740173	2740174	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:2740173_2740174insA	uc003smr.1	+	1	449_450	c.88_89insA	c.(88-90)cagfs	p.Q30fs	AMZ1_uc003sms.1_Frame_Shift_Ins_p.Q30fs|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	30							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCCCTGCAGCAGCTGTATGTG	0.668													A	2740174	-	A	2740173	7	5	42	1	0	1	1	0	0	0	0	0	596	711	25	0	90	0	AMZ1	7	2740173	Frame_Shift_Ins	INS	-	TCGA-06-0195-01B-01D-1491-08		2740173	156398490	39	2563											
ABCB4	5244	broad.mit.edu	37	7	87060779	87060779	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:87060779C>T	uc003uiv.1	-	14	1910	c.1834G>A	c.(1834-1836)Gga>Aga	p.G612R	ABCB4_uc003uiw.1_Missense_Mutation_p.G612R|ABCB4_uc003uix.1_Missense_Mutation_p.G612R	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	612	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGTGGCTTCCTTGCTCCACA	0.478													T	87060779	C	T	87060779	3	4	42	1	0	0	0	0	1	0	0	0	43	690	24	3	2082	3	ABCB4	7	87060779	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	84320606	87060779	72077884	40	2564											
DBF4	10926	broad.mit.edu	37	7	87525787	87525787	+	Splice_Site	SNP	A	A	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:87525787A>T	uc003ujf.1	+	7	1102	c.598_splice	c.e7-2	p.G200_splice	DBF4_uc003ujh.1_Splice_Site|DBF4_uc003ujg.1_Splice_Site|DBF4_uc011khf.1_Splice_Site_p.G2_splice	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	200					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATTTTTTTTTAGGGCAAAAGA	0.299													T	87525787	A	T	87525787	5	4	42	1	0	0	0	0	0	0	1	0	4248	434	15	5	622	5	DBF4	7	87525787	Splice_Site	SNP	A	TCGA-06-0195-01B-01D-1491-08	465008	87525787	71612876	41	2565											
NPTX2	4885	broad.mit.edu	37	7	98256538	98256538	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:98256538C>T	uc003upl.2	+	3	1127	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	317	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GTCACCTGGACGACACGGGAT	0.642													T	98256538	C	T	98256538	3	4	42	1	0	0	0	0	1	0	0	0	10603	536	19	1	964	1	NPTX2	7	98256538	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	10730751	98256538	60882125	42	2566											
FBXO24	26261	broad.mit.edu	37	7	100187923	100187923	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:100187923C>T	uc011kjz.1	+	2	447	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R89C|FBXO24_uc003uvm.1_Missense_Mutation_p.R89C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.R77C	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	89						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCAGTCCGCGCCTCCAAGA	0.602													T	100187923	C	T	100187923	3	4	42	1	0	0	0	0	1	0	0	0	5735	768	27	1	432	1	FBXO24	7	100187923	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	1931385	100187923	58950740	43	2567											
DLD	1738	broad.mit.edu	37	7	107545876	107545876	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:107545876G>A	uc003vet.3	+	6	619	c.509G>A	c.(508-510)gGc>gAc	p.G170D	DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.2_Intron|DLD_uc011kmh.2_Missense_Mutation_p.G147D|DLD_uc011kmi.2_Missense_Mutation_p.G71D	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	170					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	GCTGATGGCGGCACTCAGGTT	0.358													A	107545876	G	A	107545876	3	1	42	1	0	0	0	0	1	0	0	0	4551	1203	42	3	535	3	DLD	7	107545876	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	7357953	107545876	51592787	44	2568											
SSPO	23145	broad.mit.edu	37	7	149508065	149508065	+	Silent	SNP	G	G	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:149508065G>C	uc010lpk.3	+	65	9450	c.9450G>C	c.(9448-9450)ccG>ccC	p.P3150P		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3153					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTACCCCCCGGGCAGCACTG	0.602													C	149508065	G	C	149508065	2	2	42	1	0	0	0	0	0	0	0	1	15188	1103	39	5		5	SSPO	7	149508065	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	41962189	149508065	9630598	45	2569											
PKHD1L1	93035	broad.mit.edu	37	8	110476765	110476765	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr8:110476765C>A	uc003yne.3	+	48	7808	c.7704C>A	c.(7702-7704)aaC>aaA	p.N2568K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2568					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CCAACCCGAACAATACCATAC	0.468										HNSCC(38;0.096)			A	110476765	C	A	110476765	3	1	42	1	0	0	0	0	1	0	0	0	11972	477	17	5	7898	5	PKHD1L1	8	110476765	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		110476765	35887257	46	2570											
INSL6	11172	broad.mit.edu	37	9	5185586	5185586	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:5185586C>T	uc003zix.3	-	0	33	c.17G>A	c.(16-18)cGc>cAc	p.R6H		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	6						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CAGGGACAAGCGGAGGAGCCG	0.642													T	5185586	C	T	5185586	3	4	42	1	0	0	0	0	1	0	0	0	7770	768	27	1	632	1	INSL6	9	5185586	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		5185586	136027845	47	2571											
PLIN2	123	broad.mit.edu	37	9	19116616	19116616	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:19116616C>T	uc003zno.3	-	7	1154	c.944G>A	c.(943-945)cGc>cAc	p.R315H	PLIN2_uc011lna.2_Missense_Mutation_p.R287H	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	315					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AGTCAGGTTGCGGGCAATTGC	0.463													T	19116616	C	T	19116616	3	4	42	1	0	0	0	0	1	0	0	0	12090	768	27	1	373	1	PLIN2	9	19116616	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	13931030	19116616	122096815	48	2572											
FAM75C1	441452	broad.mit.edu	37	9	90537694	90537694	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:90537694C>T	uc010mqi.3	+	3	2901	c.2872C>T	c.(2872-2874)Cct>Tct	p.P958S	FAM75C1_uc004apq.4_Missense_Mutation_p.P941S|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AATGTTTCCCCCTACTCACAA	0.483													T	90537694	C	T	90537694	3	4	42	1	0	0	0	0	1	0	0	0	5623	623	22	3	2886	3	FAM75C1	9	90537694	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	71421078	90537694	50675737	49	2573											
FBP1	2203	broad.mit.edu	37	9	97380089	97380089	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:97380089G>A	uc004auw.4	-	2	718	c.387C>T	c.(385-387)tgC>tgT	p.C129C	FBP1_uc010mrl.3_Silent_p.C129C	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	129					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CGGACACAAGGCAATCGATGT	0.388													A	97380089	G	A	97380089	2	1	42	1	0	0	0	0	0	0	0	1	5705	1195	42	3		3	FBP1	9	97380089	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	6842395	97380089	43833342	50	2574											
GDF2	2658	broad.mit.edu	37	10	48413762	48413762	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:48413762G>A	uc001jfa.1	-	1	1266	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	369					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTTCGTCGGCGTCACATCGTC	0.582													A	48413762	G	A	48413762	3	1	42	1	0	0	0	0	1	0	0	0	6314	1145	40	1	187	1	GDF2	10	48413762	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		48413762	87120985	51	2575											
PTEN	5728	broad.mit.edu	37	10	89692992	89692992	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:89692992G>A	uc001kfb.3	+	4	1508	c.476G>A	c.(475-477)aGg>aAg	p.R159K	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	159	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R159K(10)|p.R159S(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGGAAGTAAGGACCAGAGAC	0.373		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692992	G	A	89692992	3	1	42	1	0	0	0	0	1	0	0	0	12738	1000	35	3	494	3	PTEN	10	89692992	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	41279230	89692992	45841755	52	2576											
PRDM11	56981	broad.mit.edu	37	11	45117447	45117447	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:45117447G>A	uc001myo.3	+	1	340	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	31										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ttaccagagagagaaagtaag	0.488													A	45117447	G	A	45117447	3	1	42	1	0	0	0	0	1	0	0	0	12452	943	33	3	93	3	PRDM11	11	45117447	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		45117447	89889069	53	2577											
BCL9L	283149	broad.mit.edu	37	11	118773532	118773532	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:118773532G>A	uc001pug.3	-	5	1885	c.920C>T	c.(919-921)cCg>cTg	p.P307L	BCL9L_uc009zal.3_Missense_Mutation_p.P302L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	307	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGCGGCGGCGGCAGTGGAGG	0.716													A	118773532	G	A	118773532	3	1	42	1	0	0	0	0	1	0	0	0	1382	1116	39	2	3591	2	BCL9L	11	118773532	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	73656085	118773532	16232984	54	2578											
TRIM29	23650	broad.mit.edu	37	11	120008709	120008709	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:120008709C>T	uc001pwz.3	-	0	155	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	11					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGGCTCGACCCGTTGCTCCTG	0.632													T	120008709	C	T	120008709	3	4	42	1	0	0	0	0	1	0	0	0	16500	652	23	2	1771	2	TRIM29	11	120008709	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	1235177	120008709	14997807	55	2579											
LRTM2	654429	broad.mit.edu	37	12	1943505	1943505	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:1943505T>G	uc001qjt.2	+	4	1537	c.731T>G	c.(730-732)aTg>aGg	p.M244R	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.M244R|LRTM2_uc010sdx.1_Missense_Mutation_p.M244R|LRTM2_uc001qjv.2_Missense_Mutation_p.M6R	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	244	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			ATGGTCCCCATGGAGATGTTC	0.597													G	1943505	T	G	1943505	3	3	42	1	0	0	0	0	1	0	0	0	9045	1464	51	5	741	5	LRTM2	12	1943505	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08		1943505	131908390	56	2580											
CD163L1	283316	broad.mit.edu	37	12	7527093	7527093	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:7527093G>A	uc010sge.2	-	12	3410	c.3384C>T	c.(3382-3384)cgC>cgT	p.R1128R	CD163L1_uc001qsy.3_Silent_p.R1118R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1118	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCCCCAGCCGCGGGAAGGGC	0.617													A	7527093	G	A	7527093	2	1	42	1	0	0	0	0	0	0	0	1	2968	1074	38	1		1	CD163L1	12	7527093	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	5583588	7527093	126324802	57	2581											
OVCH1	341350	broad.mit.edu	37	12	29628035	29628035	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:29628035C>T	uc001rix.1	-	13	1559	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	520	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.R520H(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCCTTGTAAACGATTTTTACC	0.338													T	29628035	C	T	29628035	3	4	42	1	0	0	0	0	1	0	0	0	11323	536	19	1	1905	1	OVCH1	12	29628035	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	22100942	29628035	104223860	58	2582											
KRT79	338785	broad.mit.edu	37	12	53217720	53217720	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:53217720G>A	uc001sbb.3	-	5	1130	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I	KRT79_uc001sba.3_Missense_Mutation_p.T137I	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	366	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATAGTGCGGGTGAGCTCAGC	0.612													A	53217720	G	A	53217720	3	1	42	1	0	0	0	0	1	0	0	0	8492	1261	44	3	526	3	KRT79	12	53217720	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	23589685	53217720	80634175	59	2583											
EIF4B	1975	broad.mit.edu	37	12	53421578	53421578	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:53421578G>A	uc001sbh.4	+	6	886	c.680G>A	c.(679-681)cGt>cAt	p.R227H	EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc010snu.2_Missense_Mutation_p.R227H|EIF4B_uc010snv.2_Missense_Mutation_p.R188H	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	227	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.R227C(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TATCGAGATCGTTATGATTCA	0.483													A	53421578	G	A	53421578	3	1	42	1	0	0	0	0	1	0	0	0	5027	1145	40	1	706	1	EIF4B	12	53421578	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	203858	53421578	80430317	60	2584											
CPSF6	11052	broad.mit.edu	37	12	69646899	69646899	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:69646899A>C	uc001sut.4	+	2	449	c.339A>C	c.(337-339)aaA>aaC	p.K113N	CPSF6_uc001suu.4_Missense_Mutation_p.K113N	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	113	Necessary for interaction with NUDT21/CPSF5.|RRM.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGGAGATAAAATTTTTTGAAA	0.323													C	69646899	A	C	69646899	3	2	42	1	0	0	0	0	1	0	0	0	3829	98	4	5	349	5	CPSF6	12	69646899	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	16225321	69646899	64204996	61	2585											
HAL	3034	broad.mit.edu	37	12	96389631	96389631	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:96389631C>T	uc001tem.1	-	1	355	c.58G>A	c.(58-60)Gcg>Acg	p.A20T	HAL_uc010sux.1_Missense_Mutation_p.A20T|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	20					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTGAGCTGCGCGTCCTGGCAG	0.642													T	96389631	C	T	96389631	3	4	42	1	0	0	0	0	1	0	0	0	6947	768	27	1	1995	1	HAL	12	96389631	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	26742732	96389631	37462264	62	2586											
STAB2	55576	broad.mit.edu	37	12	104126949	104126949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:104126949C>T	uc001tjw.3	+	50	5635	c.5449C>T	c.(5449-5451)Cga>Tga	p.R1817*	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1817	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCATGTGATACGAGATGCCAA	0.463													T	104126949	C	T	104126949	4	4	42	1	0	0	0	0	0	1	0	0	15237	528	19	1	5651	1	STAB2	12	104126949	Nonsense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	7737318	104126949	29724946	63	2587											
NFYB	4801	broad.mit.edu	37	12	104517017	104517017	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:104517017T>C	uc001tkl.1	-	4	617	c.416A>G	c.(415-417)cAg>cGg	p.Q139R		NM_006166	NP_006157	P25208	NFYB_HUMAN	Homo sapiens nuclear transcription factor Y, beta (NFYB), mRNA.	139	B domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTGAATTTCTGAAGGTATAA	0.363													C	104517017	T	C	104517017	3	2	42	1	0	0	0	0	1	0	0	0	10390	1580	55	4	223	4	NFYB	12	104517017	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	390068	104517017	29334878	64	2588											
TPCN1	53373	broad.mit.edu	37	12	113724880	113724880	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:113724880C>T	uc001tux.3	+	19	2005	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	TPCN1_uc001tuw.3_Missense_Mutation_p.R539C|TPCN1_uc010syt.1_Missense_Mutation_p.R471C	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	539						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CGTGGTCCTGCGCCCCCTCCA	0.617													T	113724880	C	T	113724880	3	4	42	1	0	0	0	0	1	0	0	0	16392	768	27	1	1905	1	TPCN1	12	113724880	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	9207863	113724880	20127015	65	2589											
SDSL	113675	broad.mit.edu	37	12	113873227	113873227	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:113873227G>A	uc001tvi.3	+	6	744	c.537G>A	c.(535-537)ctG>ctA	p.L179L	SDSL_uc009zwh.3_Silent_p.L179L	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	179					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GGGGTCTCCTGGCCGGGGTGG	0.657													A	113873227	G	A	113873227	2	1	42	1	0	0	0	0	0	0	0	1	13976	1335	47	3		3	SDSL	12	113873227	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	148347	113873227	19978668	66	2590											
SCARB1	949	broad.mit.edu	37	12	125292425	125292425	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:125292425G>A	uc001ugp.3	-	6	1144	c.891C>T	c.(889-891)ccC>ccT	p.P297P	SCARB1_uc001ugm.4_Silent_p.P297P|SCARB1_uc001ugn.4_Silent_p.P297P|SCARB1_uc010tbd.2_Silent_p.P297P|SCARB1_uc001ugo.4_Silent_p.P297P	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	297			P -> S (mutation carriers have increased HDL cholesterol levels and a reduction in cholesterol efflux from macrophages).		adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCGATAGGTGGGGATGCCTT	0.582													A	125292425	G	A	125292425	2	1	42	1	0	0	0	0	0	0	0	1	13881	1335	47	3		3	SCARB1	12	125292425	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	11419198	125292425	8559470	67	2591											
RB1	5925	broad.mit.edu	37	13	48947596	48947596	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr13:48947596C>T	uc001vcb.3	+	11	1349	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	RB1_uc010act.1_Nonsense_Mutation_p.Q96*	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	395	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.Q395*(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCAAGTGATCAACCTTCAGA	0.294		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48947596	C	T	48947596	4	4	42	1	0	0	0	0	0	1	0	0	13098	827	29	3	1229	3	RB1	13	48947596	Nonsense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		48947596	66222282	68	2592											
OR4K5	79317	broad.mit.edu	37	14	20389151	20389151	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr14:20389151C>A	uc010tkw.2	+	0	386	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P129S(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)		ATATGCAAACCCTTATACTAT	0.448													A	20389151	C	A	20389151	3	1	42	1	0	0	0	0	1	0	0	0	11073	623	22	5	388	5	OR4K5	14	20389151	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		20389151	86960389	69	2593											
RNF151	146310	broad.mit.edu	37	16	2018613	2018614	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr16:2018613_2018614insC	uc002cnt.1	+	3	433_434	c.425_426insC	c.(424-426)tgcfs	p.C142fs	TCRBV20S1_uc021tak.1_Intron	NM_174903	NP_777563	Q2KHN1	RN151_HUMAN	Homo sapiens ring finger protein 151 (RNF151), mRNA.	142					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						CAGCAGCGCTGCCCCCTGGGCT	0.728													C	2018614	-	C	2018613	7	5	42	1	0	1	1	0	0	0	0	0	13452	1319	46	0	439	0	RNF151	16	2018613	Frame_Shift_Ins	INS	-	TCGA-06-0195-01B-01D-1491-08		2018613	88336140	70	2594											
ITGAX	3687	broad.mit.edu	37	16	31392315	31392315	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr16:31392315C>T	uc002ebt.3	+	28	3441	c.3374C>T	c.(3373-3375)gCg>gTg	p.A1125V	ITGAX_uc002ebu.1_Missense_Mutation_p.A1125V	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1125					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCATCACAGCGGTACTGTAC	0.542													T	31392315	C	T	31392315	3	4	42	1	0	0	0	0	1	0	0	0	7889	768	27	1	3488	1	ITGAX	16	31392315	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	29373702	31392315	58962438	71	2595											
SLC16A13	201232	broad.mit.edu	37	17	6941650	6941650	+	Missense_Mutation	SNP	G	G	A	rs139041380		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:6941650G>A	uc002geh.3	+	2	831	c.523G>A	c.(523-525)Gtg>Atg	p.V175M		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	175						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTGCTGCTGGTGTCTGCCCT	0.667													A	6941650	G	A	6941650	3	1	42	1	0	0	0	0	1	0	0	0	14406	1261	44	3	533	3	SLC16A13	17	6941650	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		6941650	74253560	72	2596											
DVL2	1856	broad.mit.edu	37	17	7130543	7130543	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7130543G>A	uc002gez.1	-	12	1691	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	DVL2_uc010vtr.1_Missense_Mutation_p.P464L	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	470	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCGCCGCTCAGGAAAGCCCTC	0.577													A	7130543	G	A	7130543	3	1	42	1	0	0	0	0	1	0	0	0	4836	1000	35	3	813	3	DVL2	17	7130543	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	188893	7130543	74064667	73	2597											
TP53	7157	broad.mit.edu	37	17	7577096	7577096	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7577096T>G	uc002gim.2	-	7	1036	c.842A>C	c.(841-843)gAc>gCc	p.D281A	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281A|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149A|TP53_uc010cnf.1_Missense_Mutation_p.D149A|TP53_uc002gii.1_Missense_Mutation_p.D149A|TP53_uc010cni.1_Missense_Mutation_p.D281A|TP53_uc010cnh.1_Missense_Mutation_p.D281A|TP53_uc002gij.2_Missense_Mutation_p.D281A|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.R280T(61)|p.R280K(47)|p.D281E(28)|p.D281N(26)|p.D281G(20)|p.R280G(19)|p.D281H(19)|p.R280S(15)|p.R280I(14)|p.D281Y(11)|p.D281V(9)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.D281fs*63(4)|p.R280_D281delRD(4)|p.D281A(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(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)		TGTGCGCCGGTCTCTCCCAGG	0.552		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)			G	7577096	T	G	7577096	3	3	42	1	0	0	0	0	1	0	0	0	16378	1667	58	5	444	5	TP53	17	7577096	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	446553	7577096	73618114	74	2598											
TP53	7157	broad.mit.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7577142C>T	uc002gim.2	-	7	990	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> 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.G266R(91)|p.G266E(49)|p.G266V(36)|p.G266*(27)|p.L265P(15)|p.0?(8)|p.G266fs*79(7)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.L265R(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.G266_E271delGRNSFE(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.G266fs*9(2)|p.G266A(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265del(2)|p.E258fs*71(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.G266fs*4(1)|p.N263fs*5(1)|p.L265Q(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)		CTGTTCCGTCCCAGTAGATTA	0.517		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)			T	7577142	C	T	7577142	3	4	42	1	0	0	0	0	1	0	0	0	16378	632	22	3	490	3	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	46	7577142	73618068	75	2599											
CCDC42	146849	broad.mit.edu	37	17	8638499	8638499	+	Missense_Mutation	SNP	G	G	A	rs141089641	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:8638499G>A	uc002gln.3	-	5	1015	c.788C>T	c.(787-789)aCg>aTg	p.T263M	CCDC42_uc002glo.3_Missense_Mutation_p.T189M	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	263										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GAGGTTCAGCGTGGCCATCTT	0.587													A	8638499	G	A	8638499	3	1	42	1	0	0	0	0	1	0	0	0	2814	1145	40	1	170	1	CCDC42	17	8638499	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	1061357	8638499	72556711	76	2600											
SLFN5	162394	broad.mit.edu	37	17	33591324	33591324	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:33591324T>C	uc002hjf.4	+	3	1378	c.1261T>C	c.(1261-1263)Ttt>Ctt	p.F421L	SLFN5_uc010wcg.2_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	421					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AATATTGATTTTTTCTCAAAG	0.418													C	33591324	T	C	33591324	3	2	42	1	0	0	0	0	1	0	0	0	14737	1841	64	4	1271	4	SLFN5	17	33591324	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	24952825	33591324	47603886	77	2601											
FAM117A	81558	broad.mit.edu	37	17	47788746	47788746	+	Silent	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:47788746C>T	uc002ipk.3	-	7	1302	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	FAM117A_uc010wlz.2_Silent_p.P139P	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	411	Pro-rich.							p.P411L(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TGGGGCTGGCCGGGGGAAGGG	0.652													T	47788746	C	T	47788746	2	4	42	1	0	0	0	0	0	0	0	1	5409	639	23	2		2	FAM117A	17	47788746	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	14197422	47788746	33406464	78	2602											
KCTD2	23510	broad.mit.edu	37	17	73049201	73049201	+	Splice_Site	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:73049201G>A	uc002jmp.3	+	3	607	c.540_splice	c.e3+1	p.Q180_splice	KCTD2_uc010dfz.3_Splice_Site|KCTD2_uc002jmq.3_Splice_Site	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					AACTTCACAAGTAATGTATTT	0.478													A	73049201	G	A	73049201	5	1	42	1	0	0	0	0	0	0	1	0	8107	1043	36	3	551	3	KCTD2	17	73049201	Splice_Site	SNP	G	TCGA-06-0195-01B-01D-1491-08	25260455	73049201	8146009	79	2603											
NFIX	4784	broad.mit.edu	37	19	13184252	13184252	+	Silent	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:13184252G>A	uc010xmx.2	+	3	716	c.663G>A	c.(661-663)caG>caA	p.Q221Q	NFIX_uc002mwd.3_Silent_p.Q213Q|NFIX_uc002mwe.3_Silent_p.Q205Q|NFIX_uc002mwf.3_Silent_p.Q216Q|NFIX_uc002mwg.2_Silent_p.Q212Q			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	213					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TAAGTTTCCAGGACTGTTTTG	0.522													A	13184252	G	A	13184252	2	1	42	1	0	0	0	0	0	0	0	1	10374	991	35	3		3	NFIX	19	13184252	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		13184252	45944731	80	2604											
CYP4F3	4051	broad.mit.edu	37	19	15758051	15758051	+	Missense_Mutation	SNP	C	C	T	rs149124841	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:15758051C>T	uc010xok.2	+	4	492	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	CYP4F3_uc010xol.2_Missense_Mutation_p.R148C|CYP4F3_uc002nbj.3_Missense_Mutation_p.R148C|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.R148C|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	148					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGCCGCCACCGTCGGATGCT	0.567													T	15758051	C	T	15758051	3	4	42	1	0	0	0	0	1	0	0	0	4190	652	23	2	456	2	CYP4F3	19	15758051	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	2573799	15758051	43370932	81	2605											
MYO9B	4650	broad.mit.edu	37	19	17309077	17309077	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:17309077C>T	uc010eak.3	+	23	4350	c.4198C>T	c.(4198-4200)Cca>Tca	p.P1400S	MYO9B_uc002nfi.3_Missense_Mutation_p.P1400S|MYO9B_uc002nfj.1_Missense_Mutation_p.P1400S|MYO9B_uc002nfl.1_5'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1400	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATCCTCCCTCCCAGACGCAGG	0.622													T	17309077	C	T	17309077	3	4	42	1	0	0	0	0	1	0	0	0	10085	623	22	3	4288	3	MYO9B	19	17309077	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	1551026	17309077	41819906	82	2606											
ZNF492	57615	broad.mit.edu	37	19	22847727	22847727	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:22847727A>C	uc002nqw.3	+	3	1500	c.1256A>C	c.(1255-1257)aAa>aCa	p.K419T		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)				ACTGGAGAGAAACCCTACAAA	0.368													C	22847727	A	C	22847727	3	2	42	1	0	0	0	0	1	0	0	0	17940	14	1	5	1266	5	ZNF492	19	22847727	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	5538650	22847727	36281256	83	2607											
ZNF99	7652	broad.mit.edu	37	19	22941405	22941405	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:22941405G>A	uc021urt.1	-	3	1461	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.H436Q(1)		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)				GCTGAGAAACGCTTAAAAGCT	0.373													A	22941405	G	A	22941405	3	1	42	1	0	0	0	0	1	0	0	0	18201	1087	38	1	2091	1	ZNF99	19	22941405	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	93678	22941405	36187578	84	2608											
TEAD2	8463	broad.mit.edu	37	19	49852054	49852054	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:49852054G>A	uc002pnh.3	-	8	759	c.653C>T	c.(652-654)tCg>tTg	p.S218L	TEAD2_uc002png.3_Missense_Mutation_p.S217L|TEAD2_uc002pni.3_Missense_Mutation_p.S217L|TEAD2_uc002pnj.3_Missense_Mutation_p.S214L|TEAD2_uc010yao.2_Missense_Mutation_p.S86L|TEAD2_uc010emw.3_Missense_Mutation_p.S217L	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	214	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGCTGGGGGCGATGGGGTAGG	0.572													A	49852054	G	A	49852054	3	1	42	1	0	0	0	0	1	0	0	0	15736	1059	37	2	722	2	TEAD2	19	49852054	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	26910649	49852054	9276929	85	2609											
SHANK1	50944	broad.mit.edu	37	19	51205802	51205802	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:51205802G>A	uc002psx.1	-	10	1688	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	557	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATGAAGGAGCGTCCGGGTACC	0.701													A	51205802	G	A	51205802	3	1	42	1	0	0	0	0	1	0	0	0	14264	1145	40	1	4868	1	SHANK1	19	51205802	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	1353748	51205802	7923181	86	2610											
FOXS1	2307	broad.mit.edu	37	20	30432906	30432906	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:30432906G>A	uc002wwt.1	-	0	515	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	147					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CCTGCCGGTCGTGGCGTTGGG	0.687													A	30432906	G	A	30432906	3	1	42	1	0	0	0	0	1	0	0	0	6035	1145	40	1	556	1	FOXS1	20	30432906	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		30432906	32592614	87	2611											
PLCG1	5335	broad.mit.edu	37	20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:39802384G>A	uc002xjp.1	+	28	3608	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_uc002xjo.1_Missense_Mutation_p.E1163K|PLCG1_uc010zwe.1_Missense_Mutation_p.E828K	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1163	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39802384	G	A	39802384	3	1	42	1	0	0	0	0	1	0	0	0	12035	1291	45	3	3601	3	PLCG1	20	39802384	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	9369478	39802384	23223136	88	2612											
SEMG2	6406	broad.mit.edu	37	20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:43836216C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.T93M|SEMG2_uc002xnj.2_Missense_Mutation_p.T93M	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378													T	43836216	C	T	43836216	3	4	42	1	0	0	0	0	1	0	0	0	14045	536	19	1		1	SEMG2	20	43836216	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	4033832	43836216	19189304	89	2613											
COL6A2	1292	broad.mit.edu	37	21	47539015	47539015	+	Silent	SNP	C	C	T	rs61735827	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr21:47539015C>T	uc002zia.1	+	13	1333	c.1251C>T	c.(1249-1251)cgC>cgT	p.R417R	COL6A2_uc002zhz.1_Silent_p.R417R|COL6A2_uc002zhy.1_Silent_p.R417R	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	417	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.R417R(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGGCCCCGCGGACCCAAAG	0.662													T	47539015	C	T	47539015	2	4	42	1	0	0	0	0	0	0	0	1	3700	755	27	1		1	COL6A2	21	47539015	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08		47539015	590880	90	2614											
BCOR	54880	broad.mit.edu	37	X	39931847	39931847	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:39931847G>A	uc004den.4	-	3	3044	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	BCOR_uc004dep.4_Nonsense_Mutation_p.Q918*|BCOR_uc004deo.4_Nonsense_Mutation_p.Q918*|BCOR_uc004dem.4_Nonsense_Mutation_p.Q918*|BCOR_uc004deq.4_Nonsense_Mutation_p.Q918*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	918					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGATCCTCTTGGGTTTTACCA	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39931847	G	A	39931847	4	1	42	1	0	0	0	0	0	1	0	0	1386	1357	47	3	2563	3	BCOR	23	39931847	Nonsense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		39931847	115338713	91	2615											
DGKK	139189	broad.mit.edu	37	X	50114831	50114831	+	Silent	SNP	C	C	T			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:50114831C>T	uc010njr.2	-	26	3527	c.3483G>A	c.(3481-3483)ctG>ctA	p.L1161L		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1168					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGCACTTCTCAGCTGGTACA	0.468													T	50114831	C	T	50114831	2	4	42	1	0	0	0	0	0	0	0	1	4472	813	29	3		3	DGKK	23	50114831	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	10182984	50114831	105155729	92	2616											
GLUD2	2747	broad.mit.edu	37	X	120183088	120183088	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:120183088C>A	uc004eto.3	+	0	1627	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	517					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATGGAGCGTTCTGCCAGGCAA	0.463													A	120183088	C	A	120183088	3	1	42	1	0	0	0	0	1	0	0	0	6477	913	32	5	1552	5	GLUD2	23	120183088	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	70068257	120183088	35087472	93	2617											
CYP4A11	1579	broad.mit.edu	37	1	47400170	47400170	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:47400170C>G	uc001cqp.4	-	6	903	c.852G>C	c.(850-852)aaG>aaC	p.K284N	CYP4A11_uc001cqq.2_Missense_Mutation_p.K284N|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	284					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCTCTTCCTCTTGATCTTCT	0.498													G	47400170	C	G	47400170	3	3	43	1	0	0	0	0	1	0	0	0	4183	912	32	5	731	5	CYP4A11	1	47400170	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		47400170	201850451	1	2618											
CSDE1	7812	broad.mit.edu	37	1	115269683	115269683	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:115269683T>C	uc001efi.3	-	13	2045	c.1523A>G	c.(1522-1524)gAt>gGt	p.D508G	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.D462G|CSDE1_uc001efm.3_Missense_Mutation_p.D477G|CSDE1_uc009wgv.3_Missense_Mutation_p.D462G|CSDE1_uc001efl.3_Missense_Mutation_p.D431G|CSDE1_uc001efn.3_Missense_Mutation_p.D431G	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	462					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.R508*(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCACAGTCATCATAAGCAAT	0.373													C	115269683	T	C	115269683	3	2	43	1	0	0	0	0	1	0	0	0	3929	1435	50	4	1043	4	CSDE1	1	115269683	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	67869513	115269683	133980938	2	2619											
TCHH	7062	broad.mit.edu	37	1	152084091	152084091	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:152084091G>A	uc009wne.1	-	2	1874	c.1602C>T	c.(1600-1602)agC>agT	p.S534S	TCHH_uc001ezp.2_Silent_p.S534S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	534	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGTTGCTCGCTCCTCAACC	0.652													A	152084091	G	A	152084091	2	1	43	1	0	0	0	0	0	0	0	1	15697	1078	38	1		1	TCHH	1	152084091	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	36814408	152084091	97166530	3	2620											
OR10Z1	128368	broad.mit.edu	37	1	158577031	158577032	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:158577031_158577032delTT	uc010pio.2	+	0	803_804	c.803_804delTT	c.(802-804)cttfs	p.L268fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCTACTCTCTTGAGAGAGATC	0.47													-	158577032	TT	-	158577031	7	5	43	1	0	1	0	1	0	0	0	0	10923	1609	56	0	805	0	OR10Z1	1	158577031	Frame_Shift_Del	DEL	TT	TCGA-06-0209-01A-01D-1491-08	6492940	158577031	90673590	4	2621											
LGR6	59352	broad.mit.edu	37	1	202287327	202287327	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:202287327C>T	uc001gxu.3	+	17	1896	c.1896C>T	c.(1894-1896)taC>taT	p.Y632Y	LGR6_uc001gxv.3_Silent_p.Y580Y|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.Y493Y	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	632						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCTGAGTACGGAGCCCGCT	0.622													T	202287327	C	T	202287327	2	4	43	1	0	0	0	0	0	0	0	1	8758	547	19	1		1	LGR6	1	202287327	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	43710296	202287327	46963294	5	2622											
OR1C1	26188	broad.mit.edu	37	1	247921487	247921487	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:247921487C>T	uc010pza.2	-	0	222	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGTAGTCGACGTAAAGCAGA	0.463													T	247921487	C	T	247921487	2	4	43	1	0	0	0	0	0	0	0	1	10952	523	19	1		1	OR1C1	1	247921487	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	45634160	247921487	1329134	6	2623											
APOB	338	broad.mit.edu	37	2	21255225	21255225	+	Splice_Site	DEL	C	C	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:21255225delC	uc002red.3	-	10	1480	c.1352_splice	c.e10+1	p.N451_splice		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	451	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAAACTCACTTGTTGACCG	0.537													-	21255225	C	-	21255225	8	5	43	1	0	1	0	1	0	0	1	0	785	579	20	0	12418	0	APOB	2	21255225	Splice_Site	DEL	C	TCGA-06-0209-01A-01D-1491-08		21255225	221944148	7	2624											
GLI2	2736	broad.mit.edu	37	2	121747197	121747197	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:121747197G>A	uc010flp.3	+	12	3737	c.3707G>A	c.(3706-3708)gGc>gAc	p.G1236D	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.G908D|GLI2_uc002tmu.4_Missense_Mutation_p.G891D	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1236					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGTGTCCTGGCATGACTACC	0.652													A	121747197	G	A	121747197	3	1	43	1	0	0	0	0	1	0	0	0	6438	1203	42	3	3757	3	GLI2	2	121747197	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	100491972	121747197	121452176	8	2625											
POTEF	728378	broad.mit.edu	37	2	130877687	130877687	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:130877687G>C	uc010fmh.2	-	2	802	c.402C>G	c.(400-402)caC>caG	p.H134Q		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	134						cell cortex	ATP binding	p.H134D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCACGGACGTGGTACCTGG	0.592													C	130877687	G	C	130877687	3	2	43	1	0	0	0	0	1	0	0	0	12265	1136	40	5	2885	5	POTEF	2	130877687	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	9130490	130877687	112321686	9	2626											
FAM123C	205147	broad.mit.edu	37	2	131522112	131522112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:131522112delG	uc021voy.1	+	0	2467	c.2467delG	c.(2467-2469)gggfs	p.G823fs	FAM123C_uc002trw.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmv.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G823fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	823								p.V825fs*16(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAGCAGGAAGGGGGGGTCTC	0.677													-	131522112	G	-	131522112	7	5	43	1	0	1	0	1	0	0	0	0	5424	1000	35	0	2469	0	FAM123C	2	131522112	Frame_Shift_Del	DEL	G	TCGA-06-0209-01A-01D-1491-08	644425	131522112	111677261	10	2627											
KCNJ3	3760	broad.mit.edu	37	2	155711294	155711294	+	Silent	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:155711294T>C	uc002tyv.1	+	2	1170	c.975T>C	c.(973-975)caT>caC	p.H325H	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	325					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTTGGGGTCATCGTTTTTTTC	0.383													C	155711294	T	C	155711294	2	2	43	1	0	0	0	0	0	0	0	1	8052	1432	50	4		4	KCNJ3	2	155711294	Silent	SNP	T	TCGA-06-0209-01A-01D-1491-08	24189182	155711294	87488079	11	2628											
UPP2	151531	broad.mit.edu	37	2	158971751	158971751	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:158971751G>A	uc002tzo.3	+	4	510	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	UPP2_uc002tzp.3_Missense_Mutation_p.G107R	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	107					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GTACAAAACCGGGCCTGTGCT	0.438													A	158971751	G	A	158971751	3	1	43	1	0	0	0	0	1	0	0	0	17010	1116	39	2	508	2	UPP2	2	158971751	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	3260457	158971751	84227622	12	2629											
ITGB6	3694	broad.mit.edu	37	2	160964323	160964323	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:160964323A>G	uc002ubh.2	-	13	2150	c.2135T>C	c.(2134-2136)aTg>aCg	p.M712T	ITGB6_uc010fou.2_Missense_Mutation_p.M712T|ITGB6_uc010zcq.1_Missense_Mutation_p.M670T|ITGB6_uc010fov.1_Missense_Mutation_p.M712T	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	712					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AACCCCTAACATGATCATGGG	0.403													G	160964323	A	G	160964323	3	3	43	1	0	0	0	0	1	0	0	0	7899	217	8	4	239	4	ITGB6	2	160964323	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	1992572	160964323	82235050	13	2630											
TTN	7273	broad.mit.edu	37	2	179431071	179431071	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:179431071G>A	uc021vsy.1	-	274	72309	c.72084C>T	c.(72082-72084)tcC>tcT	p.S24028S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S17723S|TTN_uc021vta.1_Silent_p.S17656S|TTN_uc021vtb.1_Silent_p.S17531S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24955	Fibronectin type-III 74.						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)			TTCTTAATTCGGAGTCAAGGT	0.453													A	179431071	G	A	179431071	2	1	43	1	0	0	0	0	0	0	0	1	16732	1103	39	2		2	TTN	2	179431071	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	18466748	179431071	63768302	14	2631											
UGT1A1	54658	broad.mit.edu	37	2	234669059	234669059	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:234669059C>T	uc002vuw.3	+						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.S42S|UGT1A1_uc002vvb.3_Silent_p.S42S	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.						bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACTGGCTGAGCATGCTTGGGG	0.577													T	234669059	C	T	234669059	2	4	43	1	0	0	0	0	0	0	0	1	16941	709	25	3		3	UGT1A1	2	234669059	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	55237988	234669059	8530314	15	2632											
COL7A1	1294	broad.mit.edu	37	3	48629808	48629808	+	Missense_Mutation	SNP	G	G	A	rs146041612		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:48629808G>A	uc003ctz.2	-	7	1070	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	357	Fibronectin type-III 2.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			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)		CATGTCACACGGTAGCCAGTG	0.637													A	48629808	G	A	48629808	3	1	43	1	0	0	0	0	1	0	0	0	3704	1116	39	2	8209	2	COL7A1	3	48629808	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		48629808	149392622	16	2633											
IFT57	55081	broad.mit.edu	37	3	107938379	107938379	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:107938379A>T	uc021xcc.1	-	1	399	c.346T>A	c.(346-348)Tac>Aac	p.Y116N	IFT57_uc003dwx.4_Missense_Mutation_p.Y85N	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	85					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CAAAACATGTAGAACTGTTCG	0.408													T	107938379	A	T	107938379	3	4	43	1	0	0	0	0	1	0	0	0	7562	420	15	5	1076	5	IFT57	3	107938379	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	59308571	107938379	90084051	17	2634											
COL6A6	131873	broad.mit.edu	37	3	130354555	130354555	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:130354555G>A	uc010htl.3	+	26	5072	c.5041G>A	c.(5041-5043)Gac>Aac	p.D1681N	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1681	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGATTGGGGACCCTGGTGG	0.373													A	130354555	G	A	130354555	3	1	43	1	0	0	0	0	1	0	0	0	3703	1174	41	3	5147	3	COL6A6	3	130354555	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	22416176	130354555	67667875	18	2635											
FRAS1	80144	broad.mit.edu	37	4	79399128	79399128	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:79399128G>A	uc003hlb.2	+	54	8451	c.8011G>A	c.(8011-8013)Gag>Aag	p.E2671K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2666	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			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						CAACGATACCGAGGATGAACC	0.458													A	79399128	G	A	79399128	3	1	43	1	0	0	0	0	1	0	0	0	6042	1059	37	2	8304	2	FRAS1	4	79399128	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		79399128	111755148	19	2636											
NR3C2	4306	broad.mit.edu	37	4	149073647	149073647	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:149073647T>C	uc003ilj.4	-	5	2846	c.2483A>G	c.(2482-2484)tAt>tGt	p.Y828C	NR3C2_uc003ilk.4_Missense_Mutation_p.Y711C|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	828	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGGTGCAAAATAGAGAAATTG	0.358													C	149073647	T	C	149073647	3	2	43	1	0	0	0	0	1	0	0	0	10631	1406	49	4	487	4	NR3C2	4	149073647	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	69674519	149073647	42080629	20	2637											
ADAM29	11086	broad.mit.edu	37	4	175897719	175897719	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:175897719G>A	uc003iuc.3	+	4	1713	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H	ADAM29_uc003iud.3_Missense_Mutation_p.R348H|ADAM29_uc010irr.3_Missense_Mutation_p.R348H|ADAM29_uc011cki.2_Missense_Mutation_p.R348H|ADAM29_uc021xuo.1_Missense_Mutation_p.R348H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	348	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATACATGTCGTTGTTCACAA	0.373													A	175897719	G	A	175897719	3	1	43	1	0	0	0	0	1	0	0	0	247	1145	40	1	1045	1	ADAM29	4	175897719	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	26824072	175897719	15256557	21	2638											
KIF3A	11127	broad.mit.edu	37	5	132038627	132038627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:132038627C>A	uc011cxf.2	-	12	1751	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	KIF3A_uc003kxm.3_Nonsense_Mutation_p.E88*|KIF3A_uc003kxn.3_Nonsense_Mutation_p.E491*|KIF3A_uc003kxo.3_Nonsense_Mutation_p.E506*|KIF3A_uc003kxp.3_Nonsense_Mutation_p.E509*	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	506					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTCCTTTCTTCCAGTTCC	0.408													A	132038627	C	A	132038627	4	1	43	1	0	0	0	0	0	1	0	0	8300	922	32	5	611	5	KIF3A	5	132038627	Nonsense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		132038627	48876633	22	2639											
SPOCK1	6695	broad.mit.edu	37	5	136324273	136324273	+	Silent	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:136324273A>G	uc003lbo.3	-	6	957	c.766T>C	c.(766-768)Ttg>Ctg	p.L256L	SPOCK1_uc003lbp.3_Silent_p.L256L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	256					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCATGTCCAACTTGTTGAAC	0.498													G	136324273	A	G	136324273	2	3	43	1	0	0	0	0	0	0	0	1	15078	40	2	4		4	SPOCK1	5	136324273	Silent	SNP	A	TCGA-06-0209-01A-01D-1491-08	4285646	136324273	44590987	23	2640											
ETF1	2107	broad.mit.edu	37	5	137848498	137848498	+	Silent	SNP	G	G	T	rs145474099	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:137848498G>T	uc003ldc.4	-	5	852	c.687C>A	c.(685-687)tcC>tcA	p.S229S	ETF1_uc011cyv.2_Silent_p.S215S|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Silent_p.S196S|ETF1_uc010jey.1_Silent_p.S35S	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	229					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAAAGTCAGCGGATCCAGCTA	0.403													T	137848498	G	T	137848498	2	4	43	1	0	0	0	0	0	0	0	1	5268	1103	39	5		5	ETF1	5	137848498	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	1524225	137848498	43066762	24	2641											
PCDHAC2	56146	broad.mit.edu	37	5	140176802	140176802	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:140176802G>A	uc003lhd.2	+	0	2359	c.2253G>A	c.(2251-2253)tcG>tcA	p.S751S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S751S|PCDHAC2_uc011czy.2_Silent_p.S751S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	788					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTACTCGCAGCAGAGGC	0.672													A	140176802	G	A	140176802	2	1	43	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140176802	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	2328304	140176802	40738458	25	2642											
ARAP3	64411	broad.mit.edu	37	5	141041288	141041288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:141041288G>A	uc003llm.3	-	20	3160	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.R690C|ARAP3_uc003lln.3_Missense_Mutation_p.R859C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1028	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGTGTGCGGCGGTTGACCCGC	0.557													A	141041288	G	A	141041288	3	1	43	1	0	0	0	0	1	0	0	0	840	1116	39	2	1604	2	ARAP3	5	141041288	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	864486	141041288	39873972	26	2643											
ZNF165	7718	broad.mit.edu	37	6	28053436	28053436	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:28053436T>C	uc021yro.1	+	1	1005	c.178T>C	c.(178-180)Tct>Cct	p.S60P	ZNF165_uc003nkh.3_Missense_Mutation_p.S60P|ZNF165_uc003nki.4_Missense_Mutation_p.S60P	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	60					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTACCAGGATTCTCCTGGACC	0.537													C	28053436	T	C	28053436	3	2	43	1	0	0	0	0	1	0	0	0	17737	1783	62	4	180	4	ZNF165	6	28053436	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08		28053436	143061631	27	2644											
ITPR3	3710	broad.mit.edu	37	6	33653482	33653482	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:33653482C>T	uc021ywr.1	+	40	5769	c.5545C>T	c.(5545-5547)Cgc>Tgc	p.R1849C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1849					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.R1849C(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCCCAGCCTGCGCCGGGGGCA	0.662													T	33653482	C	T	33653482	3	4	43	1	0	0	0	0	1	0	0	0	7922	768	27	1	5707	1	ITPR3	6	33653482	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	5600046	33653482	137461585	28	2645											
SNAP91	9892	broad.mit.edu	37	6	84292053	84292053	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:84292053C>T	uc021zcf.1	-	21	2067	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	SNAP91_uc011dzd.2_Silent_p.A182A|SNAP91_uc003pka.3_Silent_p.A677A|SNAP91_uc011dze.2_Silent_p.A677A|SNAP91_uc003pkc.3_Silent_p.A649A|SNAP91_uc003pkd.3_Silent_p.A372A|SNAP91_uc003pkb.3_Silent_p.A588A	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	679					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATGGGGAAGGCGCCATGAAAG	0.433													T	84292053	C	T	84292053	2	4	43	1	0	0	0	0	0	0	0	1	14833	755	27	1		1	SNAP91	6	84292053	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	50638571	84292053	86823014	29	2646											
PM20D2	135293	broad.mit.edu	37	6	89868090	89868090	+	Missense_Mutation	SNP	A	A	G	rs141826904	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:89868090A>G	uc003pmz.3	+	4	1054	c.959A>G	c.(958-960)aAt>aGt	p.N320S		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	320							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GTTCTTCCCAATAAGAGCCTA	0.318													G	89868090	A	G	89868090	3	3	43	1	0	0	0	0	1	0	0	0	12129	101	4	4	977	4	PM20D2	6	89868090	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	5576037	89868090	81246977	30	2647											
SIM1	6492	broad.mit.edu	37	6	100841583	100841583	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:100841583C>T	uc003pqj.4	-	9	1817	c.1350G>A	c.(1348-1350)gcG>gcA	p.A450A	SIM1_uc021zdg.1_Silent_p.A450A|SIM1_uc010kcu.3_Silent_p.A450A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	450	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGTGGTCAAGCGCAAAGCCAT	0.622													T	100841583	C	T	100841583	2	4	43	1	0	0	0	0	0	0	0	1	14323	755	27	1		1	SIM1	6	100841583	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	10973493	100841583	70273484	31	2648											
BCLAF1	9774	broad.mit.edu	37	6	136599630	136599630	+	Missense_Mutation	SNP	C	C	T	rs147614051		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:136599630C>T	uc003qgx.1	-	3	642	c.389G>A	c.(388-390)cGc>cAc	p.R130H	BCLAF1_uc003qgy.1_Missense_Mutation_p.R128H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R128H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R130H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	130					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATATGACCGGCGAGATCTGCT	0.458													T	136599630	C	T	136599630	3	4	43	1	0	0	0	0	1	0	0	0	1383	768	27	1	2413	1	BCLAF1	6	136599630	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	35758047	136599630	34515437	32	2649											
OPRM1	4988	broad.mit.edu	37	6	154412347	154412347	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:154412347G>A	uc011efe.2	+	4	1706	c.1183G>A	c.(1183-1185)Gtc>Atc	p.V395I	OPRM1_uc011efd.2_Missense_Mutation_p.V202I|OPRM1_uc011efc.1_Missense_Mutation_p.V221I|OPRM1_uc003qpn.2_Missense_Mutation_p.V302I|OPRM1_uc003qpo.1_Missense_Mutation_p.V302I|OPRM1_uc011eff.1_Missense_Mutation_p.V302I|OPRM1_uc011efg.1_Missense_Mutation_p.V302I|OPRM1_uc011efi.2_Missense_Mutation_p.V302I|OPRM1_uc011efh.1_Missense_Mutation_p.V302I|OPRM1_uc003qpq.1_Missense_Mutation_p.V302I|OPRM1_uc003qpr.2_Missense_Mutation_p.V302I|OPRM1_uc003qpt.1_Missense_Mutation_p.V302I|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.V202I|OPRM1_uc003qpu.2_Missense_Mutation_p.V202I	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	302					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCACATTTACGTCATCATTAA	0.483													A	154412347	G	A	154412347	3	1	43	1	0	0	0	0	1	0	0	0	10887	1145	40	1	1248	1	OPRM1	6	154412347	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	17812717	154412347	16702720	33	2650											
SDK1	221935	broad.mit.edu	37	7	4011107	4011107	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:4011107C>A	uc003smx.3	+	11	1863	c.1724C>A	c.(1723-1725)tCc>tAc	p.S575Y		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	575	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GATCGGACGTCCATCGTCCAC	0.552													A	4011107	C	A	4011107	3	1	43	1	0	0	0	0	1	0	0	0	13968	855	30	5	1770	5	SDK1	7	4011107	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		4011107	155127556	34	2651											
IKZF1	10320	broad.mit.edu	37	7	50468038	50468038	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:50468038G>A	uc003tow.4	+	7	1428	c.1273G>A	c.(1273-1275)Ggg>Agg	p.G425R	IKZF1_uc022acq.1_Missense_Mutation_p.G282R|IKZF1_uc003tpa.4_Missense_Mutation_p.G190R|IKZF1_uc022acr.1_Missense_Mutation_p.G200R|IKZF1_uc022acs.1_Missense_Mutation_p.G155R|IKZF1_uc022act.1_Missense_Mutation_p.G328R|IKZF1_uc022acu.1_Missense_Mutation_p.G338R|IKZF1_uc003tox.4_Missense_Mutation_p.G383R|IKZF1_uc022acv.1_Missense_Mutation_p.G286R|IKZF1_uc022acw.1_Missense_Mutation_p.G296R|IKZF1_uc022acx.1_Missense_Mutation_p.G338R|IKZF1_uc022acy.1_Missense_Mutation_p.G232R|IKZF1_uc022acz.1_Missense_Mutation_p.G242R|IKZF1_uc011kck.2_Missense_Mutation_p.G338R|IKZF1_uc003toy.4_Missense_Mutation_p.G383R|IKZF1_uc003toz.4_Missense_Mutation_p.G395R|IKZF1_uc010kyx.3_Missense_Mutation_p.G165R	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	425				PHARNGL -> RRAQRV (in Ref. 2; AAB50683).	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCGCGCAACGGGCTGTCGCT	0.677			"D,T"	BCL6	"ALL, DLBCL"								A	50468038	G	A	50468038	3	1	43	1	0	0	0	0	1	0	0	0	7614	1116	39	2	1299	2	IKZF1	7	50468038	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	46456931	50468038	108670625	35	2652											
VSTM2A	222008	broad.mit.edu	37	7	54636702	54636702	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:54636702G>C	uc010kzf.3	+	5	1040	c.635_splice	c.e5-1	p.G212_splice	AB074160_uc022adl.1_Intron|AB074160_uc003tqd.3_5'Flank	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	212						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TCTTCCGCAGGTGCGAGGATA	0.383													C	54636702	G	C	54636702	3	2	43	1	0	0	0	0	1	0	0	0	17226	1275	44	5	653	5	VSTM2A	7	54636702	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4168664	54636702	104501961	36	2653											
CALCR	799	broad.mit.edu	37	7	93106887	93106887	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:93106887G>A	uc003umv.2	-	5	653	c.353C>T	c.(352-354)cCg>cTg	p.P118L	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P100L|CALCR_uc003umw.2_Missense_Mutation_p.P100L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	100					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATCAAAATCCGGAAAATAATC	0.413													A	93106887	G	A	93106887	3	1	43	1	0	0	0	0	1	0	0	0	2579	1116	39	2	1217	2	CALCR	7	93106887	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	38470185	93106887	66031776	37	2654											
ZAN	7455	broad.mit.edu	37	7	100357434	100357434	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:100357434G>A	uc003uwj.3	+	17	3827	c.3662G>A	c.(3661-3663)aGc>aAc	p.S1221N	ZAN_uc003uwk.3_Missense_Mutation_p.S1221N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1221	VWFD 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			CTGCCCGAGAGCACCGTCACC	0.602													A	100357434	G	A	100357434	3	1	43	1	0	0	0	0	1	0	0	0	17510	971	34	3	3728	3	ZAN	7	100357434	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	7250547	100357434	58781229	38	2655											
C7orf58	79974	broad.mit.edu	37	7	120655897	120655897	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:120655897A>G	uc003vjq.4	+	2	875	c.428A>G	c.(427-429)gAa>gGa	p.E143G	C7orf58_uc003vjr.1_Missense_Mutation_p.E143G|C7orf58_uc003vjs.4_Missense_Mutation_p.E143G	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	143						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GGGCTACTAGAACAAGGTCAG	0.423													G	120655897	A	G	120655897	3	3	43	1	0	0	0	0	1	0	0	0	2405	246	9	4	434	4	C7orf58	7	120655897	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	20298463	120655897	38482766	39	2656											
JHDM1D	80853	broad.mit.edu	37	7	139826573	139826573	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:139826573A>T	uc003vvm.3	-	5	756	c.752T>A	c.(751-753)gTg>gAg	p.V251E		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	251	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAATTTTCCACCCAGGAAAG	0.378													T	139826573	A	T	139826573	3	4	43	1	0	0	0	0	1	0	0	0	7948	159	6	5	2133	5	JHDM1D	7	139826573	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	19170676	139826573	19312090	40	2657											
GSTK1	373156	broad.mit.edu	37	7	142964771	142964771	+	Missense_Mutation	SNP	C	C	T	rs41275042	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:142964771C>T	uc003wci.3	+	5	567	c.482C>T	c.(481-483)aCg>aTg	p.T161M	GSTK1_uc011ksy.2_Missense_Mutation_p.T118M|GSTK1_uc003wcj.3_Missense_Mutation_p.T217M|GSTK1_uc011ksz.2_Missense_Mutation_p.T149M	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	Homo sapiens glutathione S-transferase kappa 1 (GSTK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AAGATCGCAACGCCAAAGGTG	0.512													T	142964771	C	T	142964771	3	4	43	1	0	0	0	0	1	0	0	0	6836	536	19	1	668	1	GSTK1	7	142964771	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	3138198	142964771	16173892	41	2658											
NOBOX	135935	broad.mit.edu	37	7	144098495	144098495	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:144098495C>T	uc022aoj.1	-	3	488	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	163					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCCCTGGAGCGGGGGGGCGG	0.627													T	144098495	C	T	144098495	3	4	43	1	0	0	0	0	1	0	0	0	10512	768	27	1	1519	1	NOBOX	7	144098495	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	1133724	144098495	15040168	42	2659											
AGAP3	116988	broad.mit.edu	37	7	150840441	150840441	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:150840441C>T	uc003wjg.1	+	16	2290	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	AGAP3_uc003wje.1_Missense_Mutation_p.R432C|AGAP3_uc003wjj.1_Missense_Mutation_p.R262C|AGAP3_uc003wjk.1_Missense_Mutation_p.R181C	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	727					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.R763C(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAGAAGGAACGCTGGATACG	0.617													T	150840441	C	T	150840441	3	4	43	1	0	0	0	0	1	0	0	0	369	536	19	1	2420	1	AGAP3	7	150840441	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	6741946	150840441	8298222	43	2660											
RBM33	155435	broad.mit.edu	37	7	155538204	155538204	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:155538204G>T	uc010lqk.1	+	13	3255	c.2887G>T	c.(2887-2889)Gtg>Ttg	p.V963L	RBM33_uc011kvv.1_Missense_Mutation_p.V772L|RBM33_uc003wmg.2_5'Flank	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	963							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAAGCCTGGCGTGAAAAGGAC	0.602													T	155538204	G	T	155538204	3	4	43	1	0	0	0	0	1	0	0	0	13130	1145	40	5	2941	5	RBM33	7	155538204	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4697763	155538204	3600459	44	2661											
RB1CC1	9821	broad.mit.edu	37	8	53571454	53571454	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr8:53571454G>A	uc003xre.4	-	12	2330	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	RB1CC1_uc003xrf.4_Missense_Mutation_p.S591L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	591					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTGAACTTCCGAAGGACAAAA	0.323													A	53571454	G	A	53571454	3	1	43	1	0	0	0	0	1	0	0	0	13099	1059	37	2	3060	2	RB1CC1	8	53571454	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		53571454	92792568	45	2662											
C10orf2	56652	broad.mit.edu	37	10	102749558	102749558	+	Silent	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr10:102749558A>G	uc001ksf.2	+	1	2076	c.1401A>G	c.(1399-1401)caA>caG	p.Q467Q	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Silent_p.Q13Q|C10orf2_uc001ksg.2_Silent_p.Q467Q|C10orf2_uc001ksi.2_Silent_p.Q13Q|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	467	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAAGATCAACTGGACAAAT	0.542													G	102749558	A	G	102749558	2	3	43	1	0	0	0	0	0	0	0	1	1597	40	2	4		4	C10orf2	10	102749558	Silent	SNP	A	TCGA-06-0209-01A-01D-1491-08		102749558	32785189	46	2663											
OR56A4	120793	broad.mit.edu	37	11	6024337	6024337	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:6024337C>T	uc010qzv.2	-	0	42	c.42G>A	c.(40-42)caG>caA	p.Q14Q		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGAGGCCCTGTATCTGTC	0.368													T	6024337	C	T	6024337	2	4	43	1	0	0	0	0	0	0	0	1	11135	680	24	3		3	OR56A4	11	6024337	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08		6024337	128982179	47	2664											
OR4P4	81300	broad.mit.edu	37	11	55406071	55406071	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:55406071A>G	uc010rij.2	+	0	238	c.238A>G	c.(238-240)Atg>Gtg	p.M80V		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CCCCAAATTAATGGTTGACTT	0.413													G	55406071	A	G	55406071	3	3	43	1	0	0	0	0	1	0	0	0	11080	101	4	4	240	4	OR4P4	11	55406071	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	49381734	55406071	79600445	48	2665											
GLYATL1	92292	broad.mit.edu	37	11	58723260	58723260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:58723260G>A	uc001nnh.2	+	6	812	c.762G>A	c.(760-762)atG>atA	p.M254I	GLYATL1_uc001nnf.3_Missense_Mutation_p.M223I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.M223I|GLYATL1_uc001nnj.2_Missense_Mutation_p.M223I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	223						mitochondrion	glycine N-acyltransferase activity	p.M254I(2)|p.M223I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGGTAACCATGGACCCTTCTT	0.522													A	58723260	G	A	58723260	3	1	43	1	0	0	0	0	1	0	0	0	6480	1348	47	3	788	3	GLYATL1	11	58723260	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	3317189	58723260	76283256	49	2666											
TRPC6	7225	broad.mit.edu	37	11	101347101	101347101	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:101347101C>T	uc001pgk.4	-	5	2100	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N	TRPC6_uc009ywy.3_Missense_Mutation_p.D443N|TRPC6_uc009ywz.1_Missense_Mutation_p.D504N	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	559					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATTTGCGTCAATGATGCTC	0.378													T	101347101	C	T	101347101	3	4	43	1	0	0	0	0	1	0	0	0	16580	826	29	3	1152	3	TRPC6	11	101347101	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	42623841	101347101	33659415	50	2667											
USP28	57646	broad.mit.edu	37	11	113677209	113677209	+	Splice_Site	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:113677209A>G	uc001poh.3	-	19	2433	c.2400_splice	c.e19+1	p.K800_splice	USP28_uc001pog.3_Intron|USP28_uc010rwy.2_Intron|USP28_uc001poi.3_Intron	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	800					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAACAGAGATACCTTAATCAG	0.438													G	113677209	A	G	113677209	5	3	43	1	0	0	0	0	0	0	1	0	17055	405	14	4	859	4	USP28	11	113677209	Splice_Site	SNP	A	TCGA-06-0209-01A-01D-1491-08	12330108	113677209	21329307	51	2668											
LRP6	4040	broad.mit.edu	37	12	12311913	12311913	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:12311913C>T	uc001rah.4	-	11	2783	c.2641G>A	c.(2641-2643)Gtc>Atc	p.V881I	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.V881I	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	881	Beta-propeller 3.				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.V881L(2)		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)				GAGTGAAAGACGAGGATGTCC	0.537													T	12311913	C	T	12311913	3	4	43	1	0	0	0	0	1	0	0	0	8962	536	19	1	2248	1	LRP6	12	12311913	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		12311913	121539982	52	2669											
OVCH1	341350	broad.mit.edu	37	12	29628100	29628100	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:29628100G>A	uc001rix.1	-	13	1494	c.1494C>T	c.(1492-1494)acC>acT	p.T498T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	498	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGAAGTGATGGTCAACATTC	0.299													A	29628100	G	A	29628100	2	1	43	1	0	0	0	0	0	0	0	1	11323	1335	47	3		3	OVCH1	12	29628100	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	17316187	29628100	104223795	53	2670											
LRP1	4035	broad.mit.edu	37	12	57600507	57600507	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:57600507G>T	uc001snd.3	+	75	12308	c.11842G>T	c.(11842-11844)Ggt>Tgt	p.G3948C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3948					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			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)	GATTGACCGGGGTGTCACCCA	0.607													T	57600507	G	T	57600507	3	4	43	1	0	0	0	0	1	0	0	0	8951	1232	43	5	12144	5	LRP1	12	57600507	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	27972407	57600507	76251388	54	2671											
GRIP1	23426	broad.mit.edu	37	12	66911726	66911726	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:66911726C>T	uc001stk.3	-	5	774	c.533G>A	c.(532-534)cGt>cAt	p.R178H	GRIP1_uc010sta.1_Missense_Mutation_p.R122H|GRIP1_uc001stm.3_Missense_Mutation_p.R178H|GRIP1_uc001stl.1_Missense_Mutation_p.R122H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	178	PDZ 2.				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			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)		CACAACTGGACGAGATTTATT	0.388													T	66911726	C	T	66911726	3	4	43	1	0	0	0	0	1	0	0	0	6787	536	19	1	2773	1	GRIP1	12	66911726	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	9311219	66911726	66940169	55	2672											
GNG2	54331	broad.mit.edu	37	14	52433353	52433353	+	Missense_Mutation	SNP	C	C	T	rs139067662	by1000genomes	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:52433353C>T	uc001wzi.3	+	3	721	c.164C>T	c.(163-165)cCg>cTg	p.P55L	GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Missense_Mutation_p.P55L|GNG2_uc001wzj.3_Missense_Mutation_p.P55L|GNG2_uc001wzk.3_Missense_Mutation_p.P55L	NM_053064	NP_444292	P59768	GBG2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	55					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	p.P55L(4)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	ACCCCTGTTCCGGCTTCAGAA	0.527													T	52433353	C	T	52433353	3	4	43	1	0	0	0	0	1	0	0	0	6527	652	23	2	170	2	GNG2	14	52433353	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		52433353	54916187	56	2673											
LTBP2	4053	broad.mit.edu	37	14	74970199	74970199	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:74970199G>A	uc001xqa.3	-	31	5080	c.4693C>T	c.(4693-4695)Cgc>Tgc	p.R1565C		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1565	EGF-like 18; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTCATGCAGCGCTGCTGGCTG	0.672													A	74970199	G	A	74970199	3	1	43	1	0	0	0	0	1	0	0	0	9074	1087	38	1	792	1	LTBP2	14	74970199	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	22536846	74970199	32379341	57	2674											
PSMC1	5700	broad.mit.edu	37	14	90736610	90736610	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:90736610C>T	uc001xyf.3	+	9	1150	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	PSMC1_uc001xyg.3_Missense_Mutation_p.H295Y|PSMC1_uc001xyh.3_Missense_Mutation_p.H295Y	NM_002802	NP_002793	P62191	PRS4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.	368					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	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CTTTCAGATTCACACAAGCAG	0.502													T	90736610	C	T	90736610	3	4	43	1	0	0	0	0	1	0	0	0	12685	826	29	3	1140	3	PSMC1	14	90736610	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	15766411	90736610	16612930	58	2675											
SERPINA3	12	broad.mit.edu	37	14	95080911	95080911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:95080911G>A	uc001ydp.3	+	1	292	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	SERPINA3_uc001ydo.4_Missense_Mutation_p.V70M|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.V45M|SERPINA3_uc001yds.3_Missense_Mutation_p.V45M	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	45					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.V45M(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGGACACACGTGGACCTCGG	0.572													A	95080911	G	A	95080911	3	1	43	1	0	0	0	0	1	0	0	0	14090	1145	40	1	135	1	SERPINA3	14	95080911	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4344301	95080911	12268629	59	2676											
BCL11B	64919	broad.mit.edu	37	14	99642475	99642475	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:99642475G>A	uc001yga.3	-	3	965	c.698C>T	c.(697-699)gCg>gTg	p.A233V	BCL11B_uc001ygb.3_Missense_Mutation_p.A162V	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	233						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAGGAACCACGCGCTGTTGAA	0.617			T	TLX3	T-ALL								A	99642475	G	A	99642475	3	1	43	1	0	0	0	0	1	0	0	0	1364	1087	38	1	1990	1	BCL11B	14	99642475	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4561564	99642475	7707065	60	2677											
HDC	3067	broad.mit.edu	37	15	50535347	50535347	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr15:50535347C>T	uc001zxz.3	-	10	1577	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	HDC_uc001zxy.3_Missense_Mutation_p.R155H|HDC_uc010uff.2_Missense_Mutation_p.R379H	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	412					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TACCTTTAGACGAAAAACCAC	0.483													T	50535347	C	T	50535347	3	4	43	1	0	0	0	0	1	0	0	0	7015	536	19	1	761	1	HDC	15	50535347	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		50535347	51996045	61	2678											
CACNG3	10368	broad.mit.edu	37	16	24358110	24358110	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:24358110C>T	uc002dmf.3	+	1	1469	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	89					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.Y89*(2)|p.D88Y(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATGCTGACTACGAACAGGACA	0.562													T	24358110	C	T	24358110	2	4	43	1	0	0	0	0	0	0	0	1	2558	547	19	1		1	CACNG3	16	24358110	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08		24358110	65996643	62	2679											
OGFOD1	55239	broad.mit.edu	37	16	56510097	56510097	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:56510097T>C	uc002ejb.3	+	12	1710	c.1609T>C	c.(1609-1611)Tca>Cca	p.S537P	OGFOD1_uc002ejc.3_Missense_Mutation_p.S397P	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA.	537							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGGGACTTTTCATTCATCTA	0.418													C	56510097	T	C	56510097	3	2	43	1	0	0	0	0	1	0	0	0	10841	1783	62	4	1659	4	OGFOD1	16	56510097	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	32151987	56510097	33844656	63	2680											
MYH2	4620	broad.mit.edu	37	17	10428349	10428349	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:10428349G>A	uc010coi.3	-	33	4824	c.4696C>T	c.(4696-4698)Cgc>Tgc	p.R1566C	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1566C|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1566					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						AGCTGGATGCGCAGGATCTTT	0.408													A	10428349	G	A	10428349	3	1	43	1	0	0	0	0	1	0	0	0	10035	1087	38	1	1157	1	MYH2	17	10428349	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		10428349	70766861	64	2681											
XYLT2	64132	broad.mit.edu	37	17	48433460	48433460	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:48433460G>A	uc002iqo.3	+	6	1429	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	440					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCTTCCACACGGTGCTGGAGA	0.617													A	48433460	G	A	48433460	2	1	43	1	0	0	0	0	0	0	0	1	17461	1103	39	2		2	XYLT2	17	48433460	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	38005111	48433460	32761750	65	2682											
VEZF1	7716	broad.mit.edu	37	17	56060219	56060219	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:56060219T>C	uc002ivf.1	-	1	712	c.569A>G	c.(568-570)aAt>aGt	p.N190S	VEZF1_uc010dcn.1_Missense_Mutation_p.N34S	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	190					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTTGTGTCGATTGAGATGGTA	0.483													C	56060219	T	C	56060219	3	2	43	1	0	0	0	0	1	0	0	0	17152	1493	52	4	1016	4	VEZF1	17	56060219	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	7626759	56060219	25134991	66	2683											
QRICH2	84074	broad.mit.edu	37	17	74276228	74276228	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:74276228C>T	uc002jrd.1	-	11	4316	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H	QRICH2_uc010dgw.1_Missense_Mutation_p.R223H	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1379							protein binding			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						CAGCTCCAGGCGGTCCAGCTG	0.657													T	74276228	C	T	74276228	3	4	43	1	0	0	0	0	1	0	0	0	12880	768	27	1	887	1	QRICH2	17	74276228	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	18216009	74276228	6918982	67	2684											
DSG3	1830	broad.mit.edu	37	18	29038537	29038537	+	Missense_Mutation	SNP	G	G	A	rs137884016	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr18:29038537G>A	uc002kws.3	+	3	455	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	116	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTATAGTCGACCGGGAGGA	0.443													A	29038537	G	A	29038537	3	1	43	1	0	0	0	0	1	0	0	0	4778	1058	37	2	360	2	DSG3	18	29038537	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		29038537	49038711	68	2685											
ALPK2	115701	broad.mit.edu	37	18	56203942	56203942	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr18:56203942C>T	uc002lhj.4	-	4	3691	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	ALPK2_uc002lhk.1_Silent_p.T490T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1159							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCAGATGTCGTAGGCAAAC	0.567													T	56203942	C	T	56203942	2	4	43	1	0	0	0	0	0	0	0	1	545	871	31	2		2	ALPK2	18	56203942	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	27165405	56203942	21873306	69	2686											
MAP2K7	5609	broad.mit.edu	37	19	7975352	7975352	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:7975352C>T	uc002mit.3	+	4	527	c.462C>T	c.(460-462)tcC>tcT	p.S154S	MAP2K7_uc002miv.2_Silent_p.S154S|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Silent_p.S29S|MAP2K7_uc010xkb.2_Silent_p.S154S	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	154	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TGCGGCGCTCCGGGAACAAGG	0.632													T	7975352	C	T	7975352	2	4	43	1	0	0	0	0	0	0	0	1	9242	639	23	2		2	MAP2K7	19	7975352	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08		7975352	51153631	70	2687											
MUC16	94025	broad.mit.edu	37	19	9047027	9047027	+	Missense_Mutation	SNP	G	G	A	rs111231164		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:9047027G>A	uc002mkp.3	-	4	34808	c.34604C>T	c.(34603-34605)aCg>aTg	p.T11535M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11537	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7168M(1)|p.T11535M(1)		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						GATAGTTGTCGTTGAAACAGC	0.512													A	9047027	G	A	9047027	3	1	43	1	0	0	0	0	1	0	0	0	9973	1145	40	1	9239	1	MUC16	19	9047027	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	1071675	9047027	50081956	71	2688											
MRPS12	6183	broad.mit.edu	37	19	39423173	39423173	+	Missense_Mutation	SNP	C	C	T	rs140018981	by1000genomes	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:39423173C>T	uc002okc.3	+	2	560	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.3_Missense_Mutation_p.R84W|MRPS12_uc002oke.3_Missense_Mutation_p.R84W	NM_033362	NP_203527	O15235	RT12_HUMAN	Homo sapiens mitochondrial ribosomal protein S12 (MRPS12), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	84					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTGTCGAGTGCGGCTCAGCAC	0.662													T	39423173	C	T	39423173	3	4	43	1	0	0	0	0	1	0	0	0	9823	759	27	1	256	1	MRPS12	19	39423173	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	30376146	39423173	19705810	72	2689											
ZNF546	339327	broad.mit.edu	37	19	40520966	40520969	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:40520966_40520969delACTC	uc002oms.2	+	6	2045_2048	c.1789_1792delACTC	c.(1789-1794)actcaafs	p.T597fs	ZNF546_uc002omt.2_Frame_Shift_Del_p.T571fs	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATAATCTTACTCAACATTTTAA	0.353													-	40520969	ACTC	-	40520966	7	5	43	1	0	1	0	1	0	0	0	0	17975	391	14	0	1807	0	ZNF546	19	40520966	Frame_Shift_Del	DEL	ACTC	TCGA-06-0209-01A-01D-1491-08	1097793	40520966	18608017	73	2690											
PSG5	5673	broad.mit.edu	37	19	43689122	43689122	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:43689122G>A	uc002ovu.3	-	1	373	c.242C>T	c.(241-243)tCa>tTa	p.S81L	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.S81L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	81	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TACTACATATGATGTAATGTA	0.433													A	43689122	G	A	43689122	3	1	43	1	0	0	0	0	1	0	0	0	12658	1294	45	3	781	3	PSG5	19	43689122	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	3168156	43689122	15439861	74	2691											
XRCC1	7515	broad.mit.edu	37	19	44055781	44055781	+	Missense_Mutation	SNP	C	C	T	rs2271980		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:44055781C>T	uc002owt.2	-	9	1261	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	XRCC1_uc010xwp.1_Missense_Mutation_p.V350M	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	381	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCTTACGCACGATGCGGCCT	0.622								Other BER factors					T	44055781	C	T	44055781	3	4	43	1	0	0	0	0	1	0	0	0	17449	536	19	1	792	1	XRCC1	19	44055781	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	366659	44055781	15073202	75	2692											
PIGU	128869	broad.mit.edu	37	20	33169458	33169460	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:33169458_33169460delGAA	uc002xas.3	-	9	1143_1145	c.943_945delTTC	c.(943-945)ttcdel	p.F315del	PIGU_uc010zul.2_In_Frame_Del_p.F315del|PIGU_uc002xat.3_In_Frame_Del_p.F295del	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	315					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGATAAACATGAAGAAGATGGGG	0.562													-	33169460	GAA	-	33169458	7	5	43	1	0	1	0	1	0	0	0	0	11900	1281	45	0	374	0	PIGU	20	33169458	In_Frame_Del	DEL	GAA	TCGA-06-0209-01A-01D-1491-08		33169458	29856062	76	2693											
RBM38	55544	broad.mit.edu	37	20	55968365	55968365	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:55968365C>G	uc010zzj.2	+	2	576	c.392C>G	c.(391-393)cCc>cGc	p.P131R	MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_Intron	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.	131					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CAGCTGCACCCCACCTTGATC	0.597													G	55968365	C	G	55968365	3	3	43	1	0	0	0	0	1	0	0	0	13132	623	22	5	161	5	RBM38	20	55968365	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	22798907	55968365	7057155	77	2694											
KRTAP19-4	337971	broad.mit.edu	37	21	31869311	31869311	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr21:31869311C>T	uc011acz.2	-	0	118	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	Homo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA.	40						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCCAAAGCCACAGCCATAA	0.527													T	31869311	C	T	31869311	3	4	43	1	0	0	0	0	1	0	0	0	8531	594	21	3	139	3	KRTAP19-4	21	31869311	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		31869311	16260584	78	2695											
KIAA2022	340533	broad.mit.edu	37	X	73963609	73963609	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:73963609G>A	uc004eby.3	-	2	1400	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	261					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			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						TAAAAGTCTCGAAGTAACCCC	0.393													A	73963609	G	A	73963609	2	1	43	1	0	0	0	0	0	0	0	1	8269	1049	37	2		2	KIAA2022	23	73963609	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08		73963609	81306951	79	2696											
NRK	203447	broad.mit.edu	37	X	105152945	105152945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:105152945C>T	uc004emd.3	+	12	1615	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	NRK_uc010npc.1_Nonsense_Mutation_p.R106*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	438	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCACCTCAACGACTACAAGG	0.557										HNSCC(51;0.14)			T	105152945	C	T	105152945	4	4	43	1	0	0	0	0	0	1	0	0	10655	528	19	1	1362	1	NRK	23	105152945	Nonsense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	31189336	105152945	50117615	80	2697											
SH2D1A	4068	broad.mit.edu	37	X	123504148	123504149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:123504148_123504149insA	uc004euf.4	+	2	685_686	c.324_325insA	c.(322-327)gctagafs	p.A108fs	SH2D1A_uc004euh.4_Frame_Shift_Ins_p.A108fs|SH2D1A_uc004eug.4_Non-coding_Transcript|SH2D1A_uc010nqw.3_Non-coding_Transcript|SH2D1A_uc004eui.4_Non-coding_Transcript|SH2D1A_uc010nqx.3_Non-coding_Transcript	NM_002351	NP_002342	O60880	SH21A_HUMAN	Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.	108					cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGTCCTCAGCTAGAAGTACACA	0.371													A	123504149	-	A	123504148	7	5	43	1	0	1	1	0	0	0	0	0	14230	1509	53	0	334	0	SH2D1A	23	123504148	Frame_Shift_Ins	INS	-	TCGA-06-0209-01A-01D-1491-08	18351203	123504148	31766412	81	2698											
COL8A2	1296	broad.mit.edu	37	1	36565672	36565672	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:36565672C>T	uc001bzv.2	-	0	179	c.172G>A	c.(172-174)Gag>Aag	p.E58K	COL8A2_uc001bzw.2_Intron	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	58	Nonhelical region (NC2).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTTTGCCCTCACGGAAGGGC	0.662											OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	36565672	C	T	36565672	3	4	44	1	0	0	0	0	1	0	0	0	3706	835	29	3	1947	3	COL8A2	1	36565672	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		36565672	212684949	1	2699											
CYP4A11	1579	broad.mit.edu	37	1	47406941	47406941	+	Silent	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:47406941G>A	uc001cqp.4	-	0	216	c.165C>T	c.(163-165)ccC>ccT	p.P55P	CYP4A11_uc001cqq.2_Silent_p.P55P|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	55					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCAGTGGGAGGGAGGGCACG	0.597													A	47406941	G	A	47406941	2	1	44	1	0	0	0	0	0	0	0	1	4183	987	35	3		3	CYP4A11	1	47406941	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	10841269	47406941	201843680	2	2700											
LHX8	431707	broad.mit.edu	37	1	75614357	75614357	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:75614357G>A	uc001dgo.3	+	7	1464	c.800G>A	c.(799-801)cGt>cAt	p.R267H	LHX8_uc001dgq.3_Missense_Mutation_p.R206H	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTGAGCAGACGTGTGATACAG	0.383													A	75614357	G	A	75614357	3	1	44	1	0	0	0	0	1	0	0	0	8776	1145	40	1	826	1	LHX8	1	75614357	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	28207416	75614357	173636264	3	2701											
MCOLN2	255231	broad.mit.edu	37	1	85422200	85422200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:85422200C>T	uc001dkm.3	-	3	720	c.479G>A	c.(478-480)gGc>gAc	p.G160D	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	160						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GACTTTTAAGCCAATTCTATT	0.373													T	85422200	C	T	85422200	3	4	44	1	0	0	0	0	1	0	0	0	9396	739	26	3	1265	3	MCOLN2	1	85422200	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	9807843	85422200	163828421	4	2702											
COL24A1	255631	broad.mit.edu	37	1	86289377	86289379	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:86289377_86289379delTTG	uc001dlj.3	-	43	3799_3801	c.3724_3726delCAA	c.(3724-3726)caadel	p.Q1242del	COL24A1_uc001dli.3_In_Frame_Del_p.Q378del|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_In_Frame_Del_p.Q542del|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1242	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			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)		CTGGGGGTCCTTGTTGTCCAGTG	0.34													-	86289379	TTG	-	86289377	7	5	44	1	0	1	0	1	0	0	0	0	3683	1606	56	0	1486	0	COL24A1	1	86289377	In_Frame_Del	DEL	TTG	TCGA-06-0213-01A-01D-1491-08	867177	86289377	162961244	5	2703											
ACP6	51205	broad.mit.edu	37	1	147131584	147131584	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:147131584C>T	uc001epr.2	-	2	870	c.406G>A	c.(406-408)Gga>Aga	p.G136R	ACP6_uc009wjj.1_Missense_Mutation_p.G93R	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	136					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGTCTCTCTCCCAAGGCAAAC	0.483													T	147131584	C	T	147131584	3	4	44	1	0	0	0	0	1	0	0	0	165	632	22	3	912	3	ACP6	1	147131584	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	60842207	147131584	102119037	6	2704											
FLG	2312	broad.mit.edu	37	1	152275520	152275520	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:152275520C>A	uc001ezu.1	-	2	11878	c.11842G>T	c.(11842-11844)Ggc>Tgc	p.G3948C		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3948	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TGAGGACTGCCACGTGACTGT	0.438									Ichthyosis				A	152275520	C	A	152275520	3	1	44	1	0	0	0	0	1	0	0	0	5922	594	21	5	347	5	FLG	1	152275520	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	5143936	152275520	96975101	7	2705											
SH2D1B	117157	broad.mit.edu	37	1	162368720	162368720	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:162368720G>A	uc001gbz.1	-	2	478	c.356C>T	c.(355-357)aCa>aTa	p.T119I	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	119								p.T119T(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TACCACAAATGTTTCCAACTC	0.393													A	162368720	G	A	162368720	3	1	44	1	0	0	0	0	1	0	0	0	14231	1377	48	3	50	3	SH2D1B	1	162368720	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	10093200	162368720	86881901	8	2706											
MYOC	4653	broad.mit.edu	37	1	171621317	171621317	+	Silent	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:171621317G>T	uc001ghu.3	-	0	457	c.435C>A	c.(433-435)ctC>ctA	p.L145L	MYOC_uc010pmk.2_Silent_p.L87L	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	145					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTCTCGGAGGAGGTTGCTGT	0.577													T	171621317	G	T	171621317	2	4	44	1	0	0	0	0	0	0	0	1	10086	1161	41	5		5	MYOC	1	171621317	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	9252597	171621317	77629304	9	2707											
RBBP5	5929	broad.mit.edu	37	1	205065948	205065948	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:205065948G>A	uc010prd.2	-	10	1644	c.1363C>T	c.(1363-1365)Ccg>Tcg	p.P455S	RBBP5_uc010pre.2_Missense_Mutation_p.P293S|RBBP5_uc001hbu.2_Missense_Mutation_p.P420S|RBBP5_uc001hbv.2_Missense_Mutation_p.P420S	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	420					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCATCCGGTGGGGGGCCG	0.498													A	205065948	G	A	205065948	3	1	44	1	0	0	0	0	1	0	0	0	13102	1261	44	3	370	3	RBBP5	1	205065948	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	33444631	205065948	44184673	10	2708											
SYT14	255928	broad.mit.edu	37	1	210267700	210267700	+	Missense_Mutation	SNP	C	C	T	rs77686387	by1000genomes	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:210267700C>T	uc001hhs.4	+	5	669	c.611C>T	c.(610-612)cCg>cTg	p.P204L	SYT14_uc001hht.4_Missense_Mutation_p.P159L|SYT14_uc010psn.2_Missense_Mutation_p.P204L|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.P121L|SYT14_uc009xcv.3_Missense_Mutation_p.P159L	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	159						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AGAACACCCCCGCTGGATGAA	0.428													T	210267700	C	T	210267700	3	4	44	1	0	0	0	0	1	0	0	0	15467	652	23	2	633	2	SYT14	1	210267700	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	5201752	210267700	38982921	11	2709											
GREB1	9687	broad.mit.edu	37	2	11706613	11706613	+	Silent	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:11706613C>T	uc002rbk.1	+	3	585	c.285C>T	c.(283-285)tgC>tgT	p.C95C	GREB1_uc002rbl.3_Silent_p.C95C|GREB1_uc002rbm.3_5'UTR|GREB1_uc002rbn.1_Silent_p.C95C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	95						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TAGGGTTTTGCCAGGCCGGGA	0.642													T	11706613	C	T	11706613	2	4	44	1	0	0	0	0	0	0	0	1	6760	747	26	3		3	GREB1	2	11706613	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08		11706613	231492760	12	2710											
BUB1	699	broad.mit.edu	37	2	111408233	111408233	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:111408233C>T	uc002tgc.3	-	17	2205	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	BUB1_uc010yxh.2_Missense_Mutation_p.C678Y|BUB1_uc010fkb.3_Missense_Mutation_p.C698Y	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	698					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTGAGTCTGCAAGCCTCAAC	0.532													T	111408233	C	T	111408233	3	4	44	1	0	0	0	0	1	0	0	0	1570	710	25	3	1196	3	BUB1	2	111408233	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	99701620	111408233	131791140	13	2711											
SCN9A	6335	broad.mit.edu	37	2	167055444	167055444	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:167055444C>G	uc010fpl.3	-	26	6013	c.5672G>C	c.(5671-5673)cGt>cCt	p.R1891P	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1902	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAGCGGTAACGTCTATAAGC	0.363													G	167055444	C	G	167055444	3	3	44	1	0	0	0	0	1	0	0	0	13925	536	19	5	265	5	SCN9A	2	167055444	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	55647211	167055444	76143929	14	2712											
COL3A1	1281	broad.mit.edu	37	2	189868848	189868848	+	Silent	SNP	G	G	A	rs113870310		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:189868848G>A	uc002uqj.1	+	38	2919	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	934	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.S934S(2)		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)	AGAAGGGATCGCCTGGTGCCC	0.488													A	189868848	G	A	189868848	2	1	44	1	0	0	0	0	0	0	0	1	3688	1074	38	1		1	COL3A1	2	189868848	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	22813404	189868848	53330525	15	2713											
NBEAL1	65065	broad.mit.edu	37	2	204037528	204037528	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:204037528A>G	uc002uzt.3	+	39	6521	c.6188A>G	c.(6187-6189)aAa>aGa	p.K2063R	NBEAL1_uc021vvj.1_Missense_Mutation_p.K766R	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2063	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATCTTTCCAAACCAATTGGG	0.328													G	204037528	A	G	204037528	3	3	44	1	0	0	0	0	1	0	0	0	10188	14	1	4	6342	4	NBEAL1	2	204037528	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08	14168680	204037528	39161845	16	2714											
FGD5	152273	broad.mit.edu	37	3	14960268	14960268	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:14960268G>A	uc003bzc.3	+	12	3607	c.3497G>A	c.(3496-3498)cGc>cAc	p.R1166H	FGD5_uc011avk.2_Missense_Mutation_p.R1166H|FGD5_uc003bzd.3_Missense_Mutation_p.R244H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1166	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGTCAGCCGCCCTGTGATG	0.602													A	14960268	G	A	14960268	3	1	44	1	0	0	0	0	1	0	0	0	5836	1087	38	1	3547	1	FGD5	3	14960268	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		14960268	183062162	17	2715											
OR5AC2	81050	broad.mit.edu	37	3	97806681	97806681	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:97806681G>A	uc011bgs.2	+	0	665	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCTTATACTCGTGTGCTCTTT	0.373													A	97806681	G	A	97806681	3	1	44	1	0	0	0	0	1	0	0	0	11141	1145	40	1	667	1	OR5AC2	3	97806681	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	82846413	97806681	100215749	18	2716											
DTX3L	151636	broad.mit.edu	37	3	122289489	122289489	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:122289489A>G	uc003efk.3	+	3	2212	c.2123A>G	c.(2122-2124)cAc>cGc	p.H708R	DTX3L_uc010hrj.3_Missense_Mutation_p.H196R|DTX3L_uc021xdb.1_3'UTR	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	708					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			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)		GATATTCACCACAAAACATCC	0.423													G	122289489	A	G	122289489	3	3	44	1	0	0	0	0	1	0	0	0	4796	159	6	4	2137	4	DTX3L	3	122289489	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08	24482808	122289489	75732941	19	2717											
PDGFRA	5156	broad.mit.edu	37	4	55156661	55156661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr4:55156661C>T	uc003han.4	+	21	3393	c.3062C>T	c.(3061-3063)cCt>cTt	p.P1021L	PDGFRA_uc003haa.3_Missense_Mutation_p.P781L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	1021					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			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)	TACATCATTCCTCTGCCTGAC	0.562			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			T	55156661	C	T	55156661	3	4	44	1	0	0	0	0	1	0	0	0	11661	681	24	3	3144	3	PDGFRA	4	55156661	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		55156661	135997615	20	2718											
FSTL5	56884	broad.mit.edu	37	4	162697175	162697175	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr4:162697175T>C	uc003iqh.3	-	4	897	c.461A>G	c.(460-462)gAt>gGt	p.D154G	FSTL5_uc003iqi.3_Missense_Mutation_p.D153G|FSTL5_uc010iqv.3_Missense_Mutation_p.D153G	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	154						extracellular region	calcium ion binding	p.L153S(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATTTTGTAAATCTAATAGCAT	0.279													C	162697175	T	C	162697175	3	2	44	1	0	0	0	0	1	0	0	0	6080	1435	50	4	2130	4	FSTL5	4	162697175	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08	107540514	162697175	28457101	21	2719											
CHSY3	337876	broad.mit.edu	37	5	129243856	129243856	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr5:129243856C>G	uc003kvd.3	+	1	889	c.889C>G	c.(889-891)Ctt>Gtt	p.L297V		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	297						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TATTGAAGAGCTTGGAAAGCT	0.473													G	129243856	C	G	129243856	3	3	44	1	0	0	0	0	1	0	0	0	3413	797	28	5	895	5	CHSY3	5	129243856	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		129243856	51671404	22	2720											
SLIT3	6586	broad.mit.edu	37	5	168175347	168175347	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr5:168175347G>A	uc010jjg.3	-	19	2650	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C	SLIT3_uc003mab.3_Missense_Mutation_p.R744C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	744	LRRNT 4.				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.R744S(2)		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)			GGGAGGGCGCGGAGCCCCTTG	0.632													A	168175347	G	A	168175347	3	1	44	1	0	0	0	0	1	0	0	0	14741	1116	39	2	2409	2	SLIT3	5	168175347	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	38931491	168175347	12739913	23	2721											
PSORS1C1	170679	broad.mit.edu	37	6	31106528	31106528	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:31106528T>C	uc003nsl.2	+	4	428	c.139T>C	c.(139-141)Tgc>Cgc	p.C47R	PSORS1C1_uc010jsj.2_Intron|PSORS1C1_uc003nsn.2_Intron|PSORS1C2_uc003nso.4_Intron	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1), mRNA.	47										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGACCGACTTTGCCACATGGA	0.557													C	31106528	T	C	31106528	3	2	44	1	0	0	0	0	1	0	0	0	12714	1812	63	4	149	4	PSORS1C1	6	31106528	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08		31106528	140008539	24	2722											
MRAP2	112609	broad.mit.edu	37	6	84799086	84799086	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:84799086C>A	uc003pkg.4	+	3	694	c.504C>A	c.(502-504)aaC>aaA	p.N168K	MRAP2_uc010kbo.3_Missense_Mutation_p.N82K	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	168					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						ACATCCCCAACTTTGTGAACA	0.502													A	84799086	C	A	84799086	3	1	44	1	0	0	0	0	1	0	0	0	9754	564	20	5	514	5	MRAP2	6	84799086	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	53692558	84799086	86315981	25	2723											
ULBP1	80329	broad.mit.edu	37	6	150291168	150291168	+	Silent	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:150291168C>T	uc003qnp.3	+	3	685	c.642C>T	c.(640-642)gcC>gcT	p.A214A		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	214					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	p.A214A(2)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CCTCTCTGGCCCCAGGCACAA	0.562													T	150291168	C	T	150291168	2	4	44	1	0	0	0	0	0	0	0	1	16969	610	22	3		3	ULBP1	6	150291168	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	65492082	150291168	20823899	26	2724											
PACRG	135138	broad.mit.edu	37	6	163235289	163235289	+	Silent	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:163235289G>A	uc003qua.3	+	2	491	c.267G>A	c.(265-267)tcG>tcA	p.S89S	PACRG_uc003qub.3_Silent_p.S89S|PACRG_uc003quc.3_Silent_p.S89S	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	89										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AGCATGATTCGAAAGGAAACA	0.517													A	163235289	G	A	163235289	2	1	44	1	0	0	0	0	0	0	0	1	11370	1045	37	2		2	PACRG	6	163235289	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	12944121	163235289	7879778	27	2725											
NPSR1	387129	broad.mit.edu	37	7	34698051	34698051	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:34698051C>A	uc003teh.1	+	0	155	c.27C>A	c.(25-27)agC>agA	p.S9R	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.S9R|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S9R|NPSR1_uc003tei.1_Missense_Mutation_p.S9R|NPSR1_uc010kww.1_Missense_Mutation_p.S9R|NPSR1_uc011kar.1_Missense_Mutation_p.S9R	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	9						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAGAGGGCAGCTTCGATTCCA	0.572													A	34698051	C	A	34698051	3	1	44	1	0	0	0	0	1	0	0	0	10600	796	28	5	29	5	NPSR1	7	34698051	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		34698051	124440612	28	2726											
WBSCR17	64409	broad.mit.edu	37	7	70597924	70597924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:70597924G>A	uc003tvy.3	+	0	136	c.136G>A	c.(136-138)Gcc>Acc	p.A46T		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	46						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R45H(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCGCGCGCCGAGGTGGC	0.677													A	70597924	G	A	70597924	3	1	44	1	0	0	0	0	1	0	0	0	17261	1087	38	1	138	1	WBSCR17	7	70597924	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	35899873	70597924	88540739	29	2727											
SRCRB4D	136853	broad.mit.edu	37	7	76033702	76033702	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:76033702C>T	uc003ufb.3	-	1	403	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	ZP3_uc003ufc.4_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	19						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AACCTCCACCCCCAGCGCTTC	0.597													T	76033702	C	T	76033702	3	4	44	1	0	0	0	0	1	0	0	0	15136	623	22	3	1712	3	SRCRB4D	7	76033702	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	5435778	76033702	83104961	30	2728											
RELN	5649	broad.mit.edu	37	7	103417022	103417022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:103417022G>A	uc022ajr.1	-	3	686	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	RELN_uc022ajq.1_Nonsense_Mutation_p.Q176*|RELN_uc010liz.3_Nonsense_Mutation_p.Q176*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	176	Reelin.				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			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)		TCACACAACTGCTGGGCTAAA	0.403													A	103417022	G	A	103417022	4	1	44	1	0	0	0	0	0	1	0	0	13220	1328	46	3	10104	3	RELN	7	103417022	Nonsense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	27383320	103417022	55721641	31	2729											
CTTNBP2	83992	broad.mit.edu	37	7	117432019	117432019	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:117432019G>T	uc003vjf.3	-	3	1323	c.1231C>A	c.(1231-1233)Caa>Aaa	p.Q411K		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	411	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGTGTTTGAGCGGTGGGA	0.522													T	117432019	G	T	117432019	3	4	44	1	0	0	0	0	1	0	0	0	4045	1299	45	5	3840	5	CTTNBP2	7	117432019	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	14014997	117432019	41706644	32	2730											
GALT	2592	broad.mit.edu	37	9	34648454	34648454	+	Splice_Site	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:34648454G>A	uc003zve.3	+	7	754	c.687_splice	c.e7+1	p.K229_splice	GALT_uc003zvf.3_Splice_Site_p.K120_splice|GALT_uc011lop.1_Splice_Site_p.K181_splice|IL11RA_uc003zvi.3_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	229			K -> N (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACTCAGGAAGGTGGGAGAGAG	0.532									Galactosemia				A	34648454	G	A	34648454	5	1	44	1	0	0	0	0	0	0	1	0	6230	1275	44	3	714	3	GALT	9	34648454	Splice_Site	SNP	G	TCGA-06-0213-01A-01D-1491-08		34648454	106564977	33	2731											
TDRD7	23424	broad.mit.edu	37	9	100245441	100245441	+	Nonsense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:100245441C>G	uc004axj.3	+	14	2948	c.2723C>G	c.(2722-2724)tCa>tGa	p.S908*	TDRD7_uc011lux.2_Nonsense_Mutation_p.S834*|TDRD7_uc010msp.1_Nonsense_Mutation_p.S160*|TDRD7_uc011luy.2_Nonsense_Mutation_p.S228*	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	908	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTCCACTTATCAAAGCCAGGG	0.498													G	100245441	C	G	100245441	4	3	44	1	0	0	0	0	0	1	0	0	15732	838	29	5	2777	5	TDRD7	9	100245441	Nonsense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	65596987	100245441	40967990	34	2732											
TNFSF15	9966	broad.mit.edu	37	9	117552981	117552981	+	Silent	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:117552981G>A	uc004bjh.3	-	3	623	c.507C>T	c.(505-507)ggC>ggT	p.G169G	TNFSF15_uc004bjg.3_Silent_p.G110G	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	169					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGTTTGGTCGGCCTGCTTGTC	0.527													A	117552981	G	A	117552981	2	1	44	1	0	0	0	0	0	0	0	1	16305	1190	42	3		3	TNFSF15	9	117552981	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	17307540	117552981	23660450	35	2733											
MPP7	143098	broad.mit.edu	37	10	28420514	28420514	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:28420514C>T	uc001iua.1	-	7	826	c.422G>A	c.(421-423)cGt>cAt	p.R141H	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R141H|MPP7_uc009xla.2_Missense_Mutation_p.R141H|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	141	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R141H(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTTGACCAGACGGATTATTTT	0.423													T	28420514	C	T	28420514	3	4	44	1	0	0	0	0	1	0	0	0	9739	536	19	1	1356	1	MPP7	10	28420514	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		28420514	107114233	36	2734											
ZNF239	8187	broad.mit.edu	37	10	44052995	44052995	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:44052995G>T	uc001jaw.4	-	1	1186	c.533C>A	c.(532-534)cCc>cAc	p.P178H	ZNF239_uc001jax.4_Missense_Mutation_p.P178H|ZNF239_uc009xmj.3_Missense_Mutation_p.P178H|ZNF239_uc009xmk.3_Missense_Mutation_p.P178H|ZNF239_uc021pph.1_Missense_Mutation_p.P178H	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGGTCACAGGGTTTCTCCTC	0.428													T	44052995	G	T	44052995	3	4	44	1	0	0	0	0	1	0	0	0	17788	1232	43	5	847	5	ZNF239	10	44052995	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	15632481	44052995	91481752	37	2735											
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:89720852C>T	uc001kfb.3	+	7	2035	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720852	C	T	89720852	4	4	44	1	0	0	0	0	0	1	0	0	12738	644	23	2	1033	2	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	45667857	89720852	45813895	38	2736											
KNDC1	85442	broad.mit.edu	37	10	135038289	135038289	+	Silent	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:135038289C>G	uc001llz.1	+	29	5146	c.5145C>G	c.(5143-5145)tcC>tcG	p.S1715S		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1715	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCGACATTTCCACACTCGCCG	0.582													G	135038289	C	G	135038289	2	3	44	1	0	0	0	0	0	0	0	1	8426	581	21	5		5	KNDC1	10	135038289	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	45317437	135038289	496458	39	2737											
OR5L2	26338	broad.mit.edu	37	11	55594994	55594994	+	Silent	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:55594994A>G	uc001nhy.1	+	0	300	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100R(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)				GCATGGTGCAATTCTACTTGT	0.473										HNSCC(27;0.073)			G	55594994	A	G	55594994	2	3	44	1	0	0	0	0	0	0	0	1	11171	98	4	4		4	OR5L2	11	55594994	Silent	SNP	A	TCGA-06-0213-01A-01D-1491-08		55594994	79411522	40	2738											
GLYATL1	92292	broad.mit.edu	37	11	58723492	58723492	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:58723492C>T	uc001nnh.2	+	6	1044	c.994C>T	c.(994-996)Cca>Tca	p.P332S	GLYATL1_uc001nnf.3_Missense_Mutation_p.P301S|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.P301S|GLYATL1_uc001nnj.2_Missense_Mutation_p.P301S	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	301						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAATCTAGTTCCATTTTAGAC	0.418													T	58723492	C	T	58723492	3	4	44	1	0	0	0	0	1	0	0	0	6480	855	30	3	1020	3	GLYATL1	11	58723492	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	3128498	58723492	76283024	41	2739											
FAT3	120114	broad.mit.edu	37	11	92532317	92532317	+	Silent	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:92532317A>G	uc001pdj.4	+	8	6155	c.6138A>G	c.(6136-6138)gaA>gaG	p.E2046E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2046	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				ACCGTGAAGAACAAGAGTTAT	0.463										TCGA Ovarian(4;0.039)			G	92532317	A	G	92532317	2	3	44	1	0	0	0	0	0	0	0	1	5691	40	2	4		4	FAT3	11	92532317	Silent	SNP	A	TCGA-06-0213-01A-01D-1491-08	33808825	92532317	42474199	42	2740											
TTC12	54970	broad.mit.edu	37	11	113233171	113233171	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:113233171G>A	uc001pnv.3	+	18	1786	c.1681G>A	c.(1681-1683)Gtt>Att	p.V561I	TTC12_uc001pnu.3_Missense_Mutation_p.V555I|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.V405I	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	555							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TCTGAAAATTGTTGAGGAGGC	0.428													A	113233171	G	A	113233171	3	1	44	1	0	0	0	0	1	0	0	0	16676	1377	48	3	1733	3	TTC12	11	113233171	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	20700854	113233171	21773345	43	2741											
SRPR	6734	broad.mit.edu	37	11	126137085	126137085	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:126137085C>G	uc001qdh.3	-	3	689	c.511G>C	c.(511-513)Ggg>Cgg	p.G171R	SRPR_uc010sbm.2_Missense_Mutation_p.G143R|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	171					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.K170fs*33(2)|p.K170K(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTCTTGGCCCCCTTTTTTTTG	0.438													G	126137085	C	G	126137085	3	3	44	1	0	0	0	0	1	0	0	0	15161	623	22	5	1449	5	SRPR	11	126137085	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	12903914	126137085	8869431	44	2742											
ACAD8	27034	broad.mit.edu	37	11	134129623	134129623	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:134129623G>T	uc001qhk.3	+	5	750	c.689G>T	c.(688-690)gGc>gTc	p.G230V	ACAD8_uc009zdc.3_3'UTR|ACAD8_uc010sco.1_Missense_Mutation_p.G132V|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.G153V|ACAD8_uc001qhl.3_Missense_Mutation_p.G103V|ACAD8_uc010scr.1_Missense_Mutation_p.G192V|ACAD8_uc009zde.1_Missense_Mutation_p.G103V	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	230					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CTCAGCTTTGGCAAGAAGGAG	0.517													T	134129623	G	T	134129623	3	4	44	1	0	0	0	0	1	0	0	0	110	1203	42	5	711	5	ACAD8	11	134129623	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	7992538	134129623	876893	45	2743											
CD163L1	283316	broad.mit.edu	37	12	7586265	7586265	+	Silent	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:7586265C>T	uc010sge.2	-	2	176	c.150G>A	c.(148-150)ctG>ctA	p.L50L	CD163L1_uc001qsy.3_Silent_p.L50L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	50	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCCATTGACCAGCCTCAACT	0.473													T	7586265	C	T	7586265	2	4	44	1	0	0	0	0	0	0	0	1	2968	581	21	3		3	CD163L1	12	7586265	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08		7586265	126265630	46	2744											
PIK3C2G	5288	broad.mit.edu	37	12	18435035	18435035	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:18435035C>T	uc001rdt.3	+	1	136	c.20C>T	c.(19-21)aCg>aTg	p.T7M	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.T7M|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	7					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.T7M(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCTTGGCAAACGGATCCAAAT	0.353													T	18435035	C	T	18435035	3	4	44	1	0	0	0	0	1	0	0	0	11911	536	19	1	22	1	PIK3C2G	12	18435035	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	10848770	18435035	115416860	47	2745											
KRT7	3855	broad.mit.edu	37	12	52642505	52642505	+	Silent	SNP	C	C	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:52642505C>A	uc001saa.1	+	8	1498	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	KRT86_uc010snq.2_5'Flank	NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	457	Tail.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	p.I457M(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		CTTATTCCATCCGGACCGCAT	0.647													A	52642505	C	A	52642505	2	1	44	1	0	0	0	0	0	0	0	1	8483	845	30	5		5	KRT7	12	52642505	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	34207470	52642505	81209390	48	2746											
KRT2	3849	broad.mit.edu	37	12	53039092	53039092	+	Missense_Mutation	SNP	C	C	T	rs142557360		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:53039092C>T	uc001sat.3	-	8	1664	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	544	Tail.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCCAGACTGTCGGCCTCCAGA	0.572													T	53039092	C	T	53039092	3	4	44	1	0	0	0	0	1	0	0	0	8457	884	31	2	292	2	KRT2	12	53039092	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	396587	53039092	80812803	49	2747											
DCN	1634	broad.mit.edu	37	12	91552214	91552214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:91552214G>A	uc001tbt.3	-	3	651	c.397C>T	c.(397-399)Cga>Tga	p.R133*	DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Nonsense_Mutation_p.R133*	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	133					organ morphogenesis	extracellular space		p.R133*(2)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGATAAAGTCGTTCCAACTTC	0.408													A	91552214	G	A	91552214	4	1	44	1	0	0	0	0	0	1	0	0	4297	1153	40	1	702	1	DCN	12	91552214	Nonsense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	38513122	91552214	42299681	50	2748											
POLR3B	55703	broad.mit.edu	37	12	106824234	106824234	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:106824234G>A	uc001tlp.3	+	13	1669	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	POLR3B_uc001tlq.3_Missense_Mutation_p.D425N	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	483					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGTCCTTCGGACACTCCTGA	0.522													A	106824234	G	A	106824234	3	1	44	1	0	0	0	0	1	0	0	0	12229	1174	41	3	1501	3	POLR3B	12	106824234	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	15272020	106824234	27027661	51	2749											
RIMBP2	23504	broad.mit.edu	37	12	130921520	130921520	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:130921520G>A	uc001uil.2	-	9	2138	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_uc001uim.3_Missense_Mutation_p.P549L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	641	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711													A	130921520	G	A	130921520	3	1	44	1	0	0	0	0	1	0	0	0	13363	1116	39	2	1276	2	RIMBP2	12	130921520	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	24097286	130921520	2930375	52	2750											
PARP4	143	broad.mit.edu	37	13	25016086	25016086	+	Silent	SNP	A	A	G	rs113538547		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr13:25016086A>G	uc001upl.3	-	29	3670	c.3564T>C	c.(3562-3564)ttT>ttC	p.F1188F		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1188					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.F1188F(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAATATCAGGAAAAGGCGACT	0.413													G	25016086	A	G	25016086	2	3	44	1	0	0	0	0	0	0	0	1	11463	243	9	4		4	PARP4	13	25016086	Silent	SNP	A	TCGA-06-0213-01A-01D-1491-08		25016086	90153792	53	2751											
RB1	5925	broad.mit.edu	37	13	49030485	49030485	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr13:49030485G>C	uc001vcb.3	+	19	2126	c.1960_splice	c.e19+1	p.V654_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	654	Domain B.|Pocket; binds T and E1A.		V -> E (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.V654M(3)|p.V654fs*4(1)|p.V654L(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTATAAAAAAGGTTAGTAGAT	0.403		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			C	49030485	G	C	49030485	3	2	44	1	0	0	0	0	1	0	0	0	13098	1014	35	5	2034	5	RB1	13	49030485	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	24014399	49030485	66139393	54	2752											
RIN3	79890	broad.mit.edu	37	14	93118565	93118565	+	Missense_Mutation	SNP	G	G	A	rs145578489	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:93118565G>A	uc001yap.3	+	5	1323	c.1171G>A	c.(1171-1173)Gtt>Att	p.V391I	RIN3_uc010auk.3_Missense_Mutation_p.V53I|RIN3_uc001yaq.3_Missense_Mutation_p.V316I|RIN3_uc001yar.1_Missense_Mutation_p.V53I|RIN3_uc001yas.1_Missense_Mutation_p.V53I	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	391	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CAGACGCCGCGTTTCCGAGAG	0.667													A	93118565	G	A	93118565	3	1	44	1	0	0	0	0	1	0	0	0	13373	1145	40	1	1193	1	RIN3	14	93118565	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		93118565	14230975	55	2753											
RCOR1	23186	broad.mit.edu	37	14	103174815	103174815	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:103174815C>G	uc001ymb.3	+	5	902	c.665C>G	c.(664-666)tCt>tGt	p.S222C		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	Homo sapiens REST corepressor 1 (RCOR1), mRNA.	222	Interaction with HDAC1.|SANT 1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CCAGATAAATCTATAGCAAGT	0.393													G	103174815	C	G	103174815	3	3	44	1	0	0	0	0	1	0	0	0	13182	913	32	5	687	5	RCOR1	14	103174815	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	10056250	103174815	4174725	56	2754											
JAG2	3714	broad.mit.edu	37	14	105617967	105617967	+	Silent	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:105617967G>A	uc001yqg.3	-	7	1553	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Silent_p.A383A	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	383	EGF-like 4.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACTCACCAAGGGCACAGGTGG	0.652													A	105617967	G	A	105617967	2	1	44	1	0	0	0	0	0	0	0	1	7935	1219	43	3		3	JAG2	14	105617967	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	2443152	105617967	1731573	57	2755											
TMC3	342125	broad.mit.edu	37	15	81624852	81624852	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr15:81624852G>A	uc021ssk.1	-	21	3211	c.3211C>T	c.(3211-3213)Ccg>Tcg	p.P1071S	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	1071						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACGGACCTCGGGAACCTGCCC	0.612													A	81624852	G	A	81624852	3	1	44	1	0	0	0	0	1	0	0	0	15983	1232	43	3	95	3	TMC3	15	81624852	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		81624852	20906540	58	2756											
NPRL3	8131	broad.mit.edu	37	16	167362	167362	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr16:167362C>G	uc002cfr.3	-	4	455	c.331G>C	c.(331-333)Gat>Cat	p.D111H	NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Missense_Mutation_p.D33H|NPRL3_uc021szm.1_Intron|NPRL3_uc021szn.1_Intron|NPRL3_uc002cfq.3_Intron	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	111							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						GGGGAAGGATCTGTTTTGGAG	0.393													G	167362	C	G	167362	3	3	44	1	0	0	0	0	1	0	0	0	10598	913	32	5	1417	5	NPRL3	16	167362	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		167362	90187391	59	2757											
CX3CL1	6376	broad.mit.edu	37	16	57416501	57416501	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr16:57416501G>A	uc002eli.3	+	2	818	c.751G>A	c.(751-753)Gga>Aga	p.G251R		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	251	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTGGGGTCAGGGACAGAGCCC	0.692													A	57416501	G	A	57416501	3	1	44	1	0	0	0	0	1	0	0	0	4074	1233	43	3	761	3	CX3CL1	16	57416501	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	57249139	57416501	32938252	60	2758											
SCN4A	6329	broad.mit.edu	37	17	62018566	62018566	+	Silent	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr17:62018566C>T	uc002jds.1	-	23	5153	c.5076G>A	c.(5074-5076)ggG>ggA	p.G1692G		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1692					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CGTCCATTTCCCCAGAGTCAC	0.577													T	62018566	C	T	62018566	2	4	44	1	0	0	0	0	0	0	0	1	13920	610	22	3		3	SCN4A	17	62018566	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08		62018566	19176644	61	2759											
ITGB4	3691	broad.mit.edu	37	17	73745120	73745120	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr17:73745120G>A	uc002jpg.3	+	26	3497	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	ITGB4_uc002jph.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.4_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.3_Missense_Mutation_p.D1104N	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1104					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCATCAGGGACCCAGGTAG	0.617													A	73745120	G	A	73745120	3	1	44	1	0	0	0	0	1	0	0	0	7897	1174	41	3	3412	3	ITGB4	17	73745120	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	11726554	73745120	7450090	62	2760											
PRKCSH	5589	broad.mit.edu	37	19	11559895	11559895	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr19:11559895T>C	uc010xlz.2	+	15	1702	c.1366T>C	c.(1366-1368)Tgg>Cgg	p.W456R	PRKCSH_uc002mrt.3_Missense_Mutation_p.W449R|PRKCSH_uc002mru.3_Missense_Mutation_p.W446R|PRKCSH_uc010dyb.3_Missense_Mutation_p.W446R	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	449	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCACAGCACCTGGGGCTCATG	0.662													C	11559895	T	C	11559895	3	2	44	1	0	0	0	0	1	0	0	0	12516	1580	55	4	1424	4	PRKCSH	19	11559895	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08		11559895	47569088	63	2761											
B3GNT8	374907	broad.mit.edu	37	19	41932546	41932546	+	Silent	SNP	C	C	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr19:41932546C>T	uc002oqs.3	-	2	592	c.138G>A	c.(136-138)acG>acA	p.T46T	B3GNT8_uc002oqt.1_Intron|B3GNT8_uc021uuy.1_Silent_p.T46T	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (B3GNT8), mRNA.	46					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						GGTTGGCTGGCGTGGGGCTTG	0.662													T	41932546	C	T	41932546	2	4	44	1	0	0	0	0	0	0	0	1	1263	755	27	1		1	B3GNT8	19	41932546	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	30372651	41932546	17196437	64	2762											
SIRPA	140885	broad.mit.edu	37	20	1895993	1895993	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr20:1895993A>G	uc002wfq.3	+	2	688	c.328A>G	c.(328-330)Aac>Gac	p.N110D	SIRPA_uc010zps.2_Missense_Mutation_p.N90D|SIRPA_uc002wfr.3_Missense_Mutation_p.N110D|SIRPA_uc002wfs.3_Missense_Mutation_p.N110D|SIRPA_uc002wft.3_Missense_Mutation_p.N110D	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	110	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCGCATCGGTAACATCACCCC	0.502													G	1895993	A	G	1895993	3	3	44	1	0	0	0	0	1	0	0	0	14332	362	13	4	334	4	SIRPA	20	1895993	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08		1895993	61129527	65	2763											
CACNA1F	778	broad.mit.edu	37	X	49077514	49077514	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:49077514G>T	uc004dnb.3	-	17	2409	c.2347C>A	c.(2347-2349)Cca>Aca	p.P783T	CACNA1F_uc010nip.3_Missense_Mutation_p.P772T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	783					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTCTCCTGTGGGAGATCCTTC	0.502													T	49077514	G	T	49077514	3	4	44	1	0	0	0	0	1	0	0	0	2543	1232	43	5	3710	5	CACNA1F	23	49077514	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		49077514	106193046	66	2764											
TAF1	6872	broad.mit.edu	37	X	70587386	70587386	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:70587386G>A	uc004dzu.4	+	1	269	c.218G>A	c.(217-219)gGg>gAg	p.G73E	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.G73E	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	73	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.G73E(2)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGGGCTTTGGGGCTGGGCAGC	0.522													A	70587386	G	A	70587386	3	1	44	1	0	0	0	0	1	0	0	0	15510	1232	43	3	224	3	TAF1	23	70587386	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	21509872	70587386	84683174	67	2765											
ATRX	546	broad.mit.edu	37	X	76872167	76872167	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:76872167delA	uc004ecp.4	-	21	5712	c.5480delT	c.(5479-5481)ttgfs	p.L1827fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.L1789fs|ATRX_uc004eco.4_Frame_Shift_Del_p.L1612fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1827					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.L1827L(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTGGAGGCAAGAATTTTGT	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76872167	A	-	76872167	7	5	44	1	0	1	0	1	0	0	0	0	1208	131	5	0	2054	0	ATRX	23	76872167	Frame_Shift_Del	DEL	A	TCGA-06-0213-01A-01D-1491-08	6284781	76872167	78398393	68	2766											
ARMCX2	9823	broad.mit.edu	37	X	100910782	100910782	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:100910782T>G	uc010nnt.2	-	4	2602	c.1793A>C	c.(1792-1794)tAc>tCc	p.Y598S	ARMCX2_uc004eid.2_Missense_Mutation_p.Y598S|ARMCX2_uc004eie.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eif.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eig.3_Missense_Mutation_p.Y598S|ARMCX2_uc022caq.1_Missense_Mutation_p.Y598S	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	598						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGTGCATAAGTAAAAAAGGGA	0.328													G	100910782	T	G	100910782	3	3	44	1	0	0	0	0	1	0	0	0	960	1638	57	5	109	5	ARMCX2	23	100910782	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08	24038615	100910782	54359778	69	2767											
RNF128	79589	broad.mit.edu	37	X	106038858	106038858	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:106038858A>G	uc004eml.3	+	6	1452	c.1202A>G	c.(1201-1203)gAt>gGt	p.D401G	RNF128_uc004emk.3_Missense_Mutation_p.D375G	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	401						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTGGCAGTGGATGTTATTCCT	0.358													G	106038858	A	G	106038858	3	3	44	1	0	0	0	0	1	0	0	0	13436	333	12	4	1638	4	RNF128	23	106038858	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08	5128076	106038858	49231702	70	2768											
LAMP2	3920	broad.mit.edu	37	X	119580241	119580241	+	Silent	SNP	G	G	T			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:119580241G>T	uc004ess.4	-	5	963	c.783C>A	c.(781-783)tcC>tcA	p.S261S	LAMP2_uc004est.4_Silent_p.S261S|LAMP2_uc011mtz.2_Silent_p.S150S|LAMP2_uc011mua.1_Silent_p.S214S|LAMP2_uc010nqp.1_Silent_p.S261S	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.	261	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AGCTGCCTGTGGAGTGAGTTG	0.423													T	119580241	G	T	119580241	2	4	44	1	0	0	0	0	0	0	0	1	8618	1335	47	5		5	LAMP2	23	119580241	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	13541383	119580241	35690319	71	2769											
GRIA3	2892	broad.mit.edu	37	X	122528885	122528885	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:122528885G>A	uc004etq.4	+	5	1109	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	GRIA3_uc004etr.4_Missense_Mutation_p.V273I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.V257I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	273					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTTCCAGATTGTCAACAATGA	0.438													A	122528885	G	A	122528885	3	1	44	1	0	0	0	0	1	0	0	0	6769	1377	48	3	839	3	GRIA3	23	122528885	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	2948644	122528885	32741675	72	2770											
THOC2	57187	broad.mit.edu	37	X	122761607	122761607	+	Silent	SNP	G	G	A			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:122761607G>A	uc004etu.3	-	22	2726	c.2694C>T	c.(2692-2694)agC>agT	p.S898S	THOC2_uc011muh.1_Silent_p.S823S|Mir_584_uc022cdq.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	898					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCGTTCATAGCTGGTGTGTG	0.388													A	122761607	G	A	122761607	2	1	44	1	0	0	0	0	0	0	0	1	15862	962	34	3		3	THOC2	23	122761607	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	232722	122761607	32508953	73	2771											
CROCC	9696	broad.mit.edu	37	1	17266398	17266398	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:17266398G>A	uc001azt.2	+	12	1687	c.1618G>A	c.(1618-1620)Ggg>Agg	p.G540R	CROCC_uc009voy.1_Missense_Mutation_p.G243R|CROCC_uc009voz.1_Missense_Mutation_p.G303R|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	540					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGACATGCGTGGGCGCTATGA	0.647													A	17266398	G	A	17266398	3	1	45	1	0	0	0	0	1	0	0	0	3893	1348	47	3	1668	3	CROCC	1	17266398	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		17266398	231984223	1	2772											
CLIC4	25932	broad.mit.edu	37	1	25124266	25124266	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:25124266C>T	uc001bjo.2	+	1	391	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	CLIC4_uc001bjp.1_Intron	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	Homo sapiens chloride intracellular channel 4 (CLIC4), nuclear gene encoding mitochondrial protein, mRNA.	36	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		AGGAAACTGCCCCTTTTCCCA	0.403													T	25124266	C	T	25124266	3	4	45	1	0	0	0	0	1	0	0	0	3528	623	22	3	112	3	CLIC4	1	25124266	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	7857868	25124266	224126355	2	2773											
BSDC1	55108	broad.mit.edu	37	1	32843632	32843632	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:32843632G>A	uc001bvi.3	-	7	713	c.666C>T	c.(664-666)gaC>gaT	p.D222D	BSDC1_uc001bvh.4_Silent_p.D205D|BSDC1_uc010ohg.2_Silent_p.D222D|BSDC1_uc010ohh.2_Silent_p.D149D|BSDC1_uc010ohi.2_Silent_p.D110D|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.D101D			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	205							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTTCAGGGCGTCCCTCCGGG	0.622													A	32843632	G	A	32843632	2	1	45	1	0	0	0	0	0	0	0	1	1528	1136	40	1		1	BSDC1	1	32843632	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	7719366	32843632	216406989	3	2774											
IL12RB2	3595	broad.mit.edu	37	1	67787302	67787302	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:67787302G>A	uc001ddu.3	+	2	734	c.94G>A	c.(94-96)Gat>Aat	p.D32N	IL12RB2_uc010oqi.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqj.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqm.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	32					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CAAGAGAGGCGATGTGACTGT	0.393													A	67787302	G	A	67787302	3	1	45	1	0	0	0	0	1	0	0	0	7627	1058	37	2	100	2	IL12RB2	1	67787302	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	34943670	67787302	181463319	4	2775											
SYDE2	84144	broad.mit.edu	37	1	85624652	85624652	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:85624652G>A	uc009wcm.3	-	6	3415	c.3366C>T	c.(3364-3366)atC>atT	p.I1122I		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	1122					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATTTTCTCCGATTTTTCTAT	0.363													A	85624652	G	A	85624652	2	1	45	1	0	0	0	0	0	0	0	1	15433	1048	37	2		2	SYDE2	1	85624652	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	17837350	85624652	163625969	5	2776											
GBP3	2635	broad.mit.edu	37	1	89481028	89481028	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:89481028T>C	uc001dmt.3	-	2	465	c.260A>G	c.(259-261)aAa>aGa	p.K87R	GBP3_uc010oss.2_Missense_Mutation_p.K8R|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.K87R	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	87						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCTGGCTTTTTGGGGTGAGG	0.483													C	89481028	T	C	89481028	3	2	45	1	0	0	0	0	1	0	0	0	6275	1841	64	4	1563	4	GBP3	1	89481028	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	3856376	89481028	159769593	6	2777											
FAM46C	54855	broad.mit.edu	37	1	118166248	118166248	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:118166248G>A	uc021osq.1	+	0	758	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	FAM46C_uc001ehe.3_Missense_Mutation_p.R253Q	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	253								p.R253L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CTTCTTGTGCGGGACTTCAGG	0.517			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			A	118166248	G	A	118166248	3	1	45	1	0	0	0	0	1	0	0	0	5567	1116	39	2	760	2	FAM46C	1	118166248	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	28685220	118166248	131084373	7	2778											
HRNR	388697	broad.mit.edu	37	1	152192393	152192393	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:152192393C>T	uc001ezt.1	-	2	1788	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	571					keratinization		calcium ion binding|protein binding	p.R571H(2)|p.S570S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATATGGGCCACGGCTTGAAGA	0.592													T	152192393	C	T	152192393	3	4	45	1	0	0	0	0	1	0	0	0	7359	536	19	1	6844	1	HRNR	1	152192393	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	34026145	152192393	97058228	8	2779											
SPTA1	6708	broad.mit.edu	37	1	158639308	158639308	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:158639308G>A	uc001fst.1	-	13	1922	c.1723C>T	c.(1723-1725)Cgt>Tgt	p.R575C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	575					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R575H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCAATCTACGTCTAGTGGCA	0.448													A	158639308	G	A	158639308	3	1	45	1	0	0	0	0	1	0	0	0	15115	1145	40	1	5692	1	SPTA1	1	158639308	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	6446915	158639308	90611313	9	2780											
CCDC19	25790	broad.mit.edu	37	1	159846467	159846467	+	Missense_Mutation	SNP	G	G	A	rs141229765		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:159846467G>A	uc001fui.3	-	9	1249	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R326W|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.A410V	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	411						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATCTTCTTCCGCGCATTTTCC	0.577													A	159846467	G	A	159846467	3	1	45	1	0	0	0	0	1	0	0	0	2795	1086	38	1	436	1	CCDC19	1	159846467	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	1207159	159846467	89404154	10	2781											
ANGEL2	90806	broad.mit.edu	37	1	213178541	213178541	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:213178541G>A	uc001hjz.3	-	4	1123	c.968C>T	c.(967-969)aCg>aTg	p.T323M	ANGEL2_uc010pto.2_Missense_Mutation_p.T197M|ANGEL2_uc010ptp.2_Missense_Mutation_p.T197M|ANGEL2_uc001hka.3_Missense_Mutation_p.T154M|ANGEL2_uc010ptq.2_Non-coding_Transcript	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	323								p.T323T(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TGCCAATTGCGTCAGCTTAAT	0.453													A	213178541	G	A	213178541	3	1	45	1	0	0	0	0	1	0	0	0	609	1145	40	1	686	1	ANGEL2	1	213178541	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	53332074	213178541	36072080	11	2782											
USH2A	7399	broad.mit.edu	37	1	216143995	216143995	+	Missense_Mutation	SNP	G	G	A	rs151057466	by1000genomes	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:216143995G>A	uc001hku.1	-	35	7316	c.6929C>T	c.(6928-6930)aCg>aTg	p.T2310M		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2310	Fibronectin type-III 9.				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.T2310M(2)|p.T2310T(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)		ACCTTTGGCCGTGCATGCTTG	0.408										HNSCC(13;0.011)			A	216143995	G	A	216143995	3	1	45	1	0	0	0	0	1	0	0	0	17033	1145	40	1	8827	1	USH2A	1	216143995	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	2965454	216143995	33106626	12	2783											
LYST	1130	broad.mit.edu	37	1	235940405	235940405	+	Silent	SNP	G	G	A	rs146990900		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:235940405G>A	uc001hxj.2	-	16	5593	c.5418C>T	c.(5416-5418)caC>caT	p.H1806H	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1806					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			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)			CACCAATTTCGTGCAGAATGC	0.348													A	235940405	G	A	235940405	2	1	45	1	0	0	0	0	0	0	0	1	9128	1136	40	1		1	LYST	1	235940405	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	19796410	235940405	13310216	13	2784											
APOB	338	broad.mit.edu	37	2	21249770	21249770	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:21249770G>A	uc002red.3	-	14	2262	c.2134C>T	c.(2134-2136)Cca>Tca	p.P712S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	712					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F711L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACTGTCTGGGAAAAATCCT	0.413													A	21249770	G	A	21249770	3	1	45	1	0	0	0	0	1	0	0	0	785	1232	43	3	11617	3	APOB	2	21249770	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		21249770	221949603	14	2785											
MSH6	2956	broad.mit.edu	37	2	48026476	48026476	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:48026476A>G	uc002rwd.4	+	3	1506	c.1354A>G	c.(1354-1356)Atg>Gtg	p.M452V	MSH6_uc002rwc.2_Missense_Mutation_p.M452V|MSH6_uc010fbj.3_Missense_Mutation_p.M150V|MSH6_uc010yoj.2_Missense_Mutation_p.M150V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	452					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGGTATTCATGAAAGGCAA	0.453			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				G	48026476	A	G	48026476	3	3	45	1	0	0	0	0	1	0	0	0	9874	217	8	4	1368	4	MSH6	2	48026476	Missense_Mutation	SNP	A	TCGA-06-0214-01A-02D-1491-08	26776706	48026476	195172897	15	2786											
SEMA4F	10505	broad.mit.edu	37	2	74900889	74900889	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:74900889G>A	uc002sna.1	+	6	867	c.756G>A	c.(754-756)acG>acA	p.T252T	SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc021vjn.1_Silent_p.T252T|SEMA4F_uc010ffq.1_Silent_p.T219T|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	252	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCTTCTTTACGGAGACTTCCC	0.567													A	74900889	G	A	74900889	2	1	45	1	0	0	0	0	0	0	0	1	14035	1103	39	2		2	SEMA4F	2	74900889	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	26874413	74900889	168298484	16	2787											
SDPR	8436	broad.mit.edu	37	2	192711627	192711627	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:192711627C>T	uc002utb.3	-	0	380	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	9						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGGAACTTTTCGGCCTGTGCA	0.612													T	192711627	C	T	192711627	3	4	45	1	0	0	0	0	1	0	0	0	13970	893	31	2	1260	2	SDPR	2	192711627	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	117810738	192711627	50487746	17	2788											
ACAA1	30	broad.mit.edu	37	3	38175476	38175476	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:38175476C>T	uc003cht.3	-	2	497	c.290G>A	c.(289-291)gGg>gAg	p.G97E	ACAA1_uc003chu.3_Missense_Mutation_p.G97E	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	97					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATGATTGCCCCGGCCCCAGG	0.522													T	38175476	C	T	38175476	3	4	45	1	0	0	0	0	1	0	0	0	104	623	22	3	1024	3	ACAA1	3	38175476	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		38175476	159846954	18	2789											
C3orf67	200844	broad.mit.edu	37	3	58870384	58870384	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:58870384C>T	uc003dkt.1	-	6	636	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_5'UTR	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	76								p.R76Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTGACAGCTTCGTGGTATAAT	0.393													T	58870384	C	T	58870384	3	4	45	1	0	0	0	0	1	0	0	0	2241	884	31	2	1504	2	C3orf67	3	58870384	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	20694908	58870384	139152046	19	2790											
C3orf17	25871	broad.mit.edu	37	3	112738408	112738408	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738408C>T	uc003dzr.3	-	0	148	c.87G>A	c.(85-87)caG>caA	p.Q29Q	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.Q28Q|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	29						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CGCCGGGGTTCTGCACTGTCA	0.731													T	112738408	C	T	112738408	2	4	45	1	0	0	0	0	0	0	0	1	2210	912	32	3		3	C3orf17	3	112738408	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	53868024	112738408	85284022	20	2791	2	2									
C3orf17	25871	broad.mit.edu	37	3	112738411	112738411	+	Silent	SNP	C	C	T	rs144842364	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738411C>T	uc003dzr.3	-	0	145	c.84G>A	c.(82-84)gtG>gtA	p.V28V	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.V27V|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	28						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CGGGGTTCTGCACTGTCACTG	0.726													T	112738411	C	T	112738411	2	4	45	1	0	0	0	0	0	0	0	1	2210	697	25	3		3	C3orf17	3	112738411	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	3	112738411	85284019	21	2792	2	2									
C3orf17	25871	broad.mit.edu	37	3	112738459	112738459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738459C>T	uc003dzr.3	-	0	97	c.36G>A	c.(34-36)tgG>tgA	p.W12*	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Nonsense_Mutation_p.W11*|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	12						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TCACACGGTTCCACGGCTCCA	0.701													T	112738459	C	T	112738459	4	4	45	1	0	0	0	0	0	1	0	0	2210	856	30	3	1703	3	C3orf17	3	112738459	Nonsense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	48	112738459	85283971	22	2793											
IFT80	57560	broad.mit.edu	37	3	160075296	160075296	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:160075296C>T	uc021xgr.1	-	5	666	c.620G>A	c.(619-621)gGt>gAt	p.G207D	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.G70D|IFT80_uc021xgq.1_Missense_Mutation_p.G205D|IFT80_uc003fde.2_Missense_Mutation_p.G70D|IFT80_uc003fdd.2_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	207						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACAGTCTTCACCAGCAGATAA	0.264													T	160075296	C	T	160075296	3	4	45	1	0	0	0	0	1	0	0	0	7564	507	18	3	1769	3	IFT80	3	160075296	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	47336837	160075296	37947134	23	2794											
GPR125	166647	broad.mit.edu	37	4	22414939	22414939	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:22414939C>T	uc003gqm.1	-	13	2363	c.2098G>A	c.(2098-2100)Gtt>Att	p.V700I	GPR125_uc010ieo.1_Missense_Mutation_p.V556I	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	700	GPS.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CGGGCTGCAACAGCATCTGCT	0.443													T	22414939	C	T	22414939	3	4	45	1	0	0	0	0	1	0	0	0	6639	478	17	3	1891	3	GPR125	4	22414939	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		22414939	168739337	24	2795											
PHOX2B	8929	broad.mit.edu	37	4	41748308	41748308	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:41748308C>T	uc003gwf.4	-	2	821	c.461G>A	c.(460-462)cGc>cAc	p.R154H		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	154					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTCCTGCTTGCGAAACTTGGC	0.617			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T	41748308	C	T	41748308	3	4	45	1	0	0	0	0	1	0	0	0	11859	768	27	1	487	1	PHOX2B	4	41748308	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	19333369	41748308	149405968	25	2796											
PDGFRA	5156	broad.mit.edu	37	4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:55131142G>A	uc003han.4	+	4	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	229	Ig-like C2-type 3.				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			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)	TAAGTCAGGGGAAACGATTGT	0.423			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55131142	G	A	55131142	3	1	45	1	0	0	0	0	1	0	0	0	11661	1175	41	3	699	3	PDGFRA	4	55131142	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	13382834	55131142	136023134	26	2797											
SGMS2	166929	broad.mit.edu	37	4	108820833	108820833	+	Silent	SNP	C	C	T	rs150340532		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:108820833C>T	uc003hyo.3	+	2	1197	c.558C>T	c.(556-558)ttC>ttT	p.F186F	SGMS2_uc003hyl.4_Silent_p.F186F|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Silent_p.F186F	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	186					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	GAATGCATTTCCAGTGTGCTC	0.398													T	108820833	C	T	108820833	2	4	45	1	0	0	0	0	0	0	0	1	14215	854	30	3		3	SGMS2	4	108820833	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	53689691	108820833	82333443	27	2798											
AP1AR	55435	broad.mit.edu	37	4	113189433	113189433	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:113189433G>A	uc003iaj.4	+	9	1130	c.777G>A	c.(775-777)gaG>gaA	p.E259E	AP1AR_uc003iak.4_Silent_p.E226E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN	Homo sapiens adaptor-related protein complex 1 associated regulatory protein (AP1AR), transcript variant 1, mRNA.	259					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						ATGGGCTGGAGTGGGAAAATG	0.403													A	113189433	G	A	113189433	2	1	45	1	0	0	0	0	0	0	0	1	730	1020	36	3		3	AP1AR	4	113189433	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	4368600	113189433	77964843	28	2799											
MAP3K1	4214	broad.mit.edu	37	5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:56160697C>T	uc003jqw.4	+	3	1472	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	324					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468													T	56160697	C	T	56160697	3	4	45	1	0	0	0	0	1	0	0	0	9243	681	24	3	985	3	MAP3K1	5	56160697	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		56160697	124754563	29	2800											
PAM	5066	broad.mit.edu	37	5	102284128	102284128	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:102284128G>C	uc003knt.3	+	7	995	c.622G>C	c.(622-624)Gtt>Ctt	p.V208L	PAM_uc003knw.3_Missense_Mutation_p.V208L|PAM_uc003kns.3_Missense_Mutation_p.V208L|PAM_uc003knu.3_Missense_Mutation_p.V208L|PAM_uc011cuz.2_Missense_Mutation_p.V111L|PAM_uc003knv.3_Missense_Mutation_p.V208L	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	208	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTTGACACTGTTATCCCAGC	0.303													C	102284128	G	C	102284128	3	2	45	1	0	0	0	0	1	0	0	0	11412	1377	48	5	652	5	PAM	5	102284128	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	46123431	102284128	78631132	30	2801											
KIF4B	285643	broad.mit.edu	37	5	154396823	154396823	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:154396823C>A	uc010jih.1	+	0	3564	c.3404C>A	c.(3403-3405)aCc>aAc	p.T1135N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1135	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTTGAACAGACCCAGGATTCC	0.537													A	154396823	C	A	154396823	3	1	45	1	0	0	0	0	1	0	0	0	8304	507	18	5	3406	5	KIF4B	5	154396823	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	52112695	154396823	26518437	31	2802											
GRM6	2916	broad.mit.edu	37	5	178416095	178416095	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:178416095C>T	uc003mjr.3	-	5	1374	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Missense_Mutation_p.G19S	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	399					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		TGCACCTTGCCCTCCTGCTCG	0.667													T	178416095	C	T	178416095	3	4	45	1	0	0	0	0	1	0	0	0	6801	623	22	3	1458	3	GRM6	5	178416095	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	24019272	178416095	2499165	32	2803											
DSP	1832	broad.mit.edu	37	6	7581804	7581804	+	Splice_Site	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr6:7581804T>A	uc003mxp.1	+	23	5658	c.5379_splice	c.e23+2	p.E1793_splice	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1793	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTTTAGAGGTATTCACAAAT	0.373													A	7581804	T	A	7581804	5	1	45	1	0	0	0	0	0	0	1	0	4781	1652	57	5	5471	5	DSP	6	7581804	Splice_Site	SNP	T	TCGA-06-0214-01A-02D-1491-08		7581804	163533263	33	2804											
BTBD9	114781	broad.mit.edu	37	6	38224188	38224188	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr6:38224188C>A	uc003ooa.4	-	9	2135	c.1559G>T	c.(1558-1560)tGc>tTc	p.C520F	BTBD9_uc010jwv.3_Missense_Mutation_p.C490F|BTBD9_uc003ony.4_Missense_Mutation_p.C452F|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.C520F	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	520					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AACTTACTTGCAGGAGACTTT	0.408													A	38224188	C	A	38224188	3	1	45	1	0	0	0	0	1	0	0	0	1548	710	25	5	291	5	BTBD9	6	38224188	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	30642384	38224188	132890879	34	2805											
ABCA13	154664	broad.mit.edu	37	7	48312026	48312026	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:48312026C>T	uc003toq.2	+	16	2787	c.2763C>T	c.(2761-2763)taC>taT	p.Y921Y	ABCA13_uc010kyr.2_Silent_p.Y424Y|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	921					transport	integral to membrane	ATP binding|ATPase activity			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						ACACAGTCTACGCTATCAGGA	0.378													T	48312026	C	T	48312026	2	4	45	1	0	0	0	0	0	0	0	1	31	547	19	1		1	ABCA13	7	48312026	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		48312026	110826637	35	2806											
WBSCR17	64409	broad.mit.edu	37	7	70880884	70880884	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:70880884A>G	uc003tvy.3	+	3	599	c.599A>G	c.(598-600)aAg>aGg	p.K200R	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	200	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L199L(1)|p.K200N(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGAGCTGAAGGTCCCCCTA	0.498													G	70880884	A	G	70880884	3	3	45	1	0	0	0	0	1	0	0	0	17261	72	3	4	613	4	WBSCR17	7	70880884	Missense_Mutation	SNP	A	TCGA-06-0214-01A-02D-1491-08	22568858	70880884	88257779	36	2807											
PCLO	27445	broad.mit.edu	37	7	82581587	82581587	+	Silent	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:82581587A>G	uc003uhx.2	-	4	8971	c.8682T>C	c.(8680-8682)gaT>gaC	p.D2894D	PCLO_uc003uhv.2_Silent_p.D2894D|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2825					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						CTACTTCCCCATCAGTGATTC	0.438													G	82581587	A	G	82581587	2	3	45	1	0	0	0	0	0	0	0	1	11583	214	8	4		4	PCLO	7	82581587	Silent	SNP	A	TCGA-06-0214-01A-02D-1491-08	11700703	82581587	76557076	37	2808											
ZCWPW1	55063	broad.mit.edu	37	7	100017491	100017491	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:100017491G>C	uc003uut.3	-	3	292	c.44C>G	c.(43-45)cCa>cGa	p.P15R	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.P14R|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kjt.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kju.1_Missense_Mutation_p.P14R	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	15							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATTCTCTTTGGTCCCTTTCC	0.448													C	100017491	G	C	100017491	3	2	45	1	0	0	0	0	1	0	0	0	17594	1348	47	5	1962	5	ZCWPW1	7	100017491	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	17435904	100017491	59121172	38	2809											
FOXP2	93986	broad.mit.edu	37	7	114304409	114304409	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:114304409G>A	uc003vhb.3	+	15	2295	c.1921G>A	c.(1921-1923)Gtc>Atc	p.V641I	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.V666I|FOXP2_uc003vha.3_Missense_Mutation_p.V549I|FOXP2_uc011kmv.2_Missense_Mutation_p.V640I|FOXP2_uc011kmu.2_Missense_Mutation_p.V658I|FOXP2_uc010ljz.2_Missense_Mutation_p.V456I	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	641					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACTGCAGGCCGTCCACGAAGA	0.483													A	114304409	G	A	114304409	3	1	45	1	0	0	0	0	1	0	0	0	6027	1145	40	1	2146	1	FOXP2	7	114304409	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	14286918	114304409	44834254	39	2810											
TES	26136	broad.mit.edu	37	7	115889085	115889085	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:115889085G>A	uc003vho.3	+	2	340	c.125G>A	c.(124-126)cGt>cAt	p.R42H	TES_uc011kmx.2_Missense_Mutation_p.R42H|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.R33H|TES_uc003vhp.3_Missense_Mutation_p.R33H|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	42	Cys-rich.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAAATATGTCGTAACTGCAAG	0.313													A	115889085	G	A	115889085	3	1	45	1	0	0	0	0	1	0	0	0	15762	1145	40	1	135	1	TES	7	115889085	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	1584676	115889085	43249578	40	2811											
WDR91	29062	broad.mit.edu	37	7	134878049	134878049	+	Silent	SNP	G	G	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:134878049G>T	uc003vsp.2	-	10	1655	c.1593C>A	c.(1591-1593)ggC>ggA	p.G531G	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Silent_p.G120G	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	531										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGCCCTTGCTGCCGATGTCTG	0.622													T	134878049	G	T	134878049	2	4	45	1	0	0	0	0	0	0	0	1	17335	1306	46	5		5	WDR91	7	134878049	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	18988964	134878049	24260614	41	2812											
HTR5A	3361	broad.mit.edu	37	7	154863097	154863097	+	Missense_Mutation	SNP	C	C	T	rs150537072	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:154863097C>T	uc003wlu.1	+	0	552	c.488C>T	c.(487-489)gCg>gTg	p.A163V	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTCATGATCGCGCTCACCTGG	0.627													T	154863097	C	T	154863097	3	4	45	1	0	0	0	0	1	0	0	0	7450	768	27	1	490	1	HTR5A	7	154863097	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	19985048	154863097	4275566	42	2813											
PTK2B	2185	broad.mit.edu	37	8	27310672	27310672	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr8:27310672G>A	uc003xfn.2	+	32	3398	c.2590G>A	c.(2590-2592)Gca>Aca	p.A864T	PTK2B_uc022ate.1_Missense_Mutation_p.A864T|PTK2B_uc003xfp.2_Missense_Mutation_p.A864T|PTK2B_uc003xfq.2_Missense_Mutation_p.A822T	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	864	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GAGGCTGGGCGCACAGGTATG	0.517													A	27310672	G	A	27310672	3	1	45	1	0	0	0	0	1	0	0	0	12763	1087	38	1	2696	1	PTK2B	8	27310672	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		27310672	119053350	43	2814											
TEX15	56154	broad.mit.edu	37	8	30705979	30705979	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr8:30705979G>A	uc003xil.3	-	0	555	c.555C>T	c.(553-555)tcC>tcT	p.S185S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	185								p.S185S(2)		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)		AAGCATTACCGGACTCCTGTT	0.413													A	30705979	G	A	30705979	2	1	45	1	0	0	0	0	0	0	0	1	15776	1103	39	2		2	TEX15	8	30705979	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	3395307	30705979	115658043	44	2815											
RRAGA	10670	broad.mit.edu	37	9	19050150	19050150	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:19050150T>A	uc003znj.3	+	0	779	c.493T>A	c.(493-495)Tgg>Agg	p.W165R		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.	165					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						AACGTCCATCTGGGATGAGAC	0.522													A	19050150	T	A	19050150	3	1	45	1	0	0	0	0	1	0	0	0	13672	1580	55	5	495	5	RRAGA	9	19050150	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08		19050150	122163281	45	2816											
CCL19	6363	broad.mit.edu	37	9	34690006	34690006	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:34690006C>T	uc003zvn.3	-	2	335	c.197G>A	c.(196-198)aGg>aAg	p.R66K	CCL19_uc010mkf.3_Intron	NM_006274	NP_006265	Q99731	CCL19_HUMAN	Homo sapiens chemokine (C-C motif) ligand 19 (CCL19), mRNA.	66					activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity					all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTGGCGGCCCCTCAGTGTGGT	0.622													T	34690006	C	T	34690006	3	4	45	1	0	0	0	0	1	0	0	0	2890	681	24	3	107	3	CCL19	9	34690006	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	15639856	34690006	106523425	46	2817											
PAX5	5079	broad.mit.edu	37	9	36846902	36846902	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:36846902T>C	uc003zzo.1	-	8	1485	c.1037A>G	c.(1036-1038)tAc>tGc	p.Y346C	PAX5_uc011lpt.1_Missense_Mutation_p.Y142C|PAX5_uc011lpu.1_Non-coding_Transcript|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.T269A|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.Y246C|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.Y303C|PAX5_uc011lqa.1_Missense_Mutation_p.Y238C|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.Y312C|PAX5_uc010mlp.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	346					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)|p.Y346C(2)	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)		AGGGTGGCTGTAGGGACTCCC	0.597			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								C	36846902	T	C	36846902	3	2	45	1	0	0	0	0	1	0	0	0	11482	1638	57	4	146	4	PAX5	9	36846902	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	2156896	36846902	104366529	47	2818											
RAD23B	5887	broad.mit.edu	37	9	110084309	110084309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:110084309C>T	uc004bde.3	+	6	1121	c.727C>T	c.(727-729)Caa>Taa	p.Q243*	RAD23B_uc011lwa.2_Nonsense_Mutation_p.Q243*|RAD23B_uc022blj.1_Nonsense_Mutation_p.Q171*|RAD23B_uc011lwb.2_Nonsense_Mutation_p.Q222*	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	243					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGACCCCCCTCAAGCAGCTAG	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					T	110084309	C	T	110084309	4	4	45	1	0	0	0	0	0	1	0	0	12983	827	29	3	753	3	RAD23B	9	110084309	Nonsense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	73237407	110084309	31129122	48	2819											
C9orf91	203197	broad.mit.edu	37	9	117396107	117396107	+	Silent	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:117396107G>A	uc004bjd.4	+	5	751	c.534G>A	c.(532-534)cgG>cgA	p.R178R	C9orf91_uc004bje.4_Silent_p.R157R|C9orf91_uc004bjf.4_Silent_p.R77R	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	Homo sapiens chromosome 9 open reading frame 91 (C9orf91), mRNA.	178						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TGAGACACCGGGTGCTGCTGG	0.567													A	117396107	G	A	117396107	2	1	45	1	0	0	0	0	0	0	0	1	2505	1219	43	3		3	C9orf91	9	117396107	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	7311798	117396107	23817324	49	2820											
SEC16A	9919	broad.mit.edu	37	9	139358176	139358176	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:139358176G>A	uc004chx.3	-	9	4772	c.4463C>T	c.(4462-4464)aCg>aTg	p.T1488M	SEC16A_uc004chv.4_Missense_Mutation_p.T878M|SEC16A_uc004chw.3_Missense_Mutation_p.T1488M|SEC16A_uc010nbn.3_Missense_Mutation_p.T1488M	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1310					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGCTCAGACGTGTGCTGCAG	0.647													A	139358176	G	A	139358176	3	1	45	1	0	0	0	0	1	0	0	0	13986	1145	40	1	2702	1	SEC16A	9	139358176	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	21962069	139358176	1855255	50	2821											
PLXDC2	84898	broad.mit.edu	37	10	20466312	20466312	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr10:20466312C>G	uc001iqg.1	+	8	1672	c.1035C>G	c.(1033-1035)aaC>aaG	p.N345K	PLXDC2_uc001iqh.1_Missense_Mutation_p.N296K|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	345	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTGGCTTCAACTGCAGTTGGT	0.313													G	20466312	C	G	20466312	3	3	45	1	0	0	0	0	1	0	0	0	12118	564	20	5	1069	5	PLXDC2	10	20466312	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		20466312	115068435	51	2822											
OR4X2	119764	broad.mit.edu	37	11	48266683	48266683	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:48266683T>C	uc001ngs.1	+	0	28	c.28T>C	c.(28-30)Tct>Cct	p.S10P		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTGGTACTTTCTCCCAACCA	0.423													C	48266683	T	C	48266683	3	2	45	1	0	0	0	0	1	0	0	0	11085	1783	62	4	30	4	OR4X2	11	48266683	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08		48266683	86739833	52	2823											
LRRC55	219527	broad.mit.edu	37	11	56950158	56950158	+	Splice_Site	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:56950158G>A	uc001njl.2	+	1	937	c.790_splice	c.e1+1	p.D264_splice		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	234	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGTACAGCAGGTAATAGAGGG	0.587													A	56950158	G	A	56950158	5	1	45	1	0	0	0	0	0	0	1	0	9011	1275	44	3	793	3	LRRC55	11	56950158	Splice_Site	SNP	G	TCGA-06-0214-01A-02D-1491-08	8683475	56950158	78056358	53	2824											
APLNR	187	broad.mit.edu	37	11	57003536	57003536	+	Missense_Mutation	SNP	G	G	A	rs137997556		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:57003536G>A	uc001njo.3	-	0	1392	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	315						integral to plasma membrane	G-protein coupled receptor activity	p.R315C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGCGGAAGCGGGGGTCGAAA	0.587													A	57003536	G	A	57003536	3	1	45	1	0	0	0	0	1	0	0	0	777	1116	39	2	203	2	APLNR	11	57003536	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	53378	57003536	78002980	54	2825											
SMTNL1	219537	broad.mit.edu	37	11	57310651	57310651	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:57310651C>T	uc021qjh.1	+	0	538	c.536C>T	c.(535-537)aCa>aTa	p.T179I		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	179										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGGAGGAGACAGGCCAGAGG	0.547													T	57310651	C	T	57310651	3	4	45	1	0	0	0	0	1	0	0	0	14815	478	17	3	596	3	SMTNL1	11	57310651	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	307115	57310651	77695865	55	2826											
CD248	57124	broad.mit.edu	37	11	66082764	66082764	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:66082764C>T	uc001ohm.1	-	0	1752	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	579	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGCTGGGTGGCCTGGGTTCTG	0.612													T	66082764	C	T	66082764	3	4	45	1	0	0	0	0	1	0	0	0	2989	739	26	3	542	3	CD248	11	66082764	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	8772113	66082764	68923752	56	2827											
C12orf57	113246	broad.mit.edu	37	12	7054965	7054965	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:7054965C>T	uc001qrz.3	+	2	343	c.261C>T	c.(259-261)tcC>tcT	p.S87S	PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	NM_138425	NP_612434	Q99622	C10_HUMAN	Homo sapiens chromosome 12 open reading frame 57 (C12orf57), mRNA.	87										kidney(1)|large_intestine(1)	2						TGGTCAAGTCCTACGAAGCCC	0.602													T	7054965	C	T	7054965	2	4	45	1	0	0	0	0	0	0	0	1	1701	668	24	3		3	C12orf57	12	7054965	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		7054965	126796930	57	2828											
ACSM4	341392	broad.mit.edu	37	12	7469737	7469737	+	Missense_Mutation	SNP	G	G	A	rs139422294	by1000genomes	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:7469737G>A	uc001qsx.1	+	3	625	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	209					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.F208F(1)		endometrium(6)|kidney(1)|lung(14)	21						TTGCAGATTCGCCTCTGAAGA	0.483													A	7469737	G	A	7469737	3	1	45	1	0	0	0	0	1	0	0	0	186	1087	38	1	639	1	ACSM4	12	7469737	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	414772	7469737	126382158	58	2829											
TM7SF3	51768	broad.mit.edu	37	12	27127064	27127064	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:27127064G>A	uc010sjl.2	-	11	1785	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	516						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TAACTTGTATGGGTGGGGAGG	0.493													A	27127064	G	A	27127064	3	1	45	1	0	0	0	0	1	0	0	0	15972	1348	47	3	169	3	TM7SF3	12	27127064	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	19657327	27127064	106724831	59	2830											
DIP2B	57609	broad.mit.edu	37	12	51122397	51122397	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:51122397C>T	uc001rwv.3	+	29	3733	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	DIP2B_uc009zlt.3_Missense_Mutation_p.R623W	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1193						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTACTCTTCTCGGCAGATCGC	0.532													T	51122397	C	T	51122397	3	4	45	1	0	0	0	0	1	0	0	0	4528	875	31	2	3695	2	DIP2B	12	51122397	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	23995333	51122397	82729498	60	2831											
ACACB	32	broad.mit.edu	37	12	109680275	109680275	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:109680275C>G	uc001tob.3	+	36	5175	c.5056C>G	c.(5056-5058)Ccc>Gcc	p.P1686A	ACACB_uc001toc.3_Missense_Mutation_p.P1686A|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.P352A	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1686					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAAGCAAGGGCCCCAGCACGG	0.522													G	109680275	C	G	109680275	3	3	45	1	0	0	0	0	1	0	0	0	107	739	26	5	5198	5	ACACB	12	109680275	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	58557878	109680275	24171620	61	2832											
KSR2	283455	broad.mit.edu	37	12	118298128	118298128	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:118298128G>A	uc001two.2	-	1	257	c.202C>T	c.(202-204)Cga>Tga	p.R68*		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	97					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGACGATTCGGAACCAGTGC	0.627													A	118298128	G	A	118298128	4	1	45	1	0	0	0	0	0	1	0	0	8582	1124	39	2	2639	2	KSR2	12	118298128	Nonsense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	8617853	118298128	15553767	62	2833											
RBM25	58517	broad.mit.edu	37	14	73569957	73569957	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr14:73569957C>T	uc010ttu.2	+	10	1201	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RBM25_uc001xno.3_Missense_Mutation_p.R309W|RBM25_uc001xnp.3_Missense_Mutation_p.R104W	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	309	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		tgagaaagaacggagagaaag	0.428													T	73569957	C	T	73569957	3	4	45	1	0	0	0	0	1	0	0	0	13125	527	19	1	959	1	RBM25	14	73569957	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		73569957	33779583	63	2834											
MKRN3	7681	broad.mit.edu	37	15	23811493	23811493	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:23811493C>T	uc001ywh.4	+	0	1040	c.564C>T	c.(562-564)gaC>gaT	p.D188D	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.D188D	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	188						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A187A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ACAATGCAGACCGTGGAGCTG	0.617													T	23811493	C	T	23811493	2	4	45	1	0	0	0	0	0	0	0	1	9608	506	18	3		3	MKRN3	15	23811493	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		23811493	78719899	64	2835											
GABRA5	2558	broad.mit.edu	37	15	27193227	27193227	+	Silent	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:27193227T>A	uc001zbd.2	+	10	1768	c.1236T>A	c.(1234-1236)acT>acA	p.T412T	GABRA5_uc021sgi.1_Silent_p.T412T|GABRA5_uc001zbe.1_Non-coding_Transcript	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	412					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			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)	AAGAGAAGACTTCTGAAAGCA	0.453													A	27193227	T	A	27193227	2	1	45	1	0	0	0	0	0	0	0	1	6164	1596	56	5		5	GABRA5	15	27193227	Silent	SNP	T	TCGA-06-0214-01A-02D-1491-08	3381734	27193227	75338165	65	2836											
DNAJA4	55466	broad.mit.edu	37	15	78567950	78567950	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:78567950C>G	uc002bdi.3	+	5	1013	c.844C>G	c.(844-846)Cag>Gag	p.Q282E	DNAJA4_uc002bdj.2_Missense_Mutation_p.Q253E|DNAJA4_uc002bdk.3_Missense_Mutation_p.Q226E|DNAJA4_uc002bdm.2_Missense_Mutation_p.Q37E	NM_018602	NP_001123654	Q8WW22	DNJA4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA.	253					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						TAGTGTCTTTCAGAGACGAGG	0.413													G	78567950	C	G	78567950	3	3	45	1	0	0	0	0	1	0	0	0	4614	827	29	5	921	5	DNAJA4	15	78567950	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	51374723	78567950	23963442	66	2837											
LRRC28	123355	broad.mit.edu	37	15	99901711	99901711	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:99901711T>A	uc002bva.1	+	7	1021	c.866T>A	c.(865-867)cTg>cAg	p.L289Q	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_Missense_Mutation_p.L135Q|LRRC28_uc010urt.1_Missense_Mutation_p.L103Q|LRRC28_uc002bvc.1_Missense_Mutation_p.L289Q|LRRC28_uc010uru.1_Missense_Mutation_p.L220Q|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.	289										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CACAGCTTGCTGAAAGGTACG	0.458											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	99901711	T	A	99901711	3	1	45	1	0	0	0	0	1	0	0	0	8982	1580	55	5	892	5	LRRC28	15	99901711	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	21333761	99901711	2629681	67	2838											
RBBP6	5930	broad.mit.edu	37	16	24583037	24583037	+	Silent	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr16:24583037T>C	uc002dmh.3	+	17	5690	c.4650T>C	c.(4648-4650)gaT>gaC	p.D1550D	RBBP6_uc002dmi.3_Silent_p.D1516D|RBBP6_uc010bxr.3_Silent_p.D710D|RBBP6_uc002dmk.3_Silent_p.D1383D	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1550					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCACTTATGATACTAAACGGC	0.363													C	24583037	T	C	24583037	2	2	45	1	0	0	0	0	0	0	0	1	13103	1403	49	4		4	RBBP6	16	24583037	Silent	SNP	T	TCGA-06-0214-01A-02D-1491-08		24583037	65771716	68	2839											
PITPNA	5306	broad.mit.edu	37	17	1456417	1456417	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:1456417C>T	uc021tng.1	-	2	334	c.78G>A	c.(76-78)gtG>gtA	p.V26V	PITPNA_uc021tnf.1_5'UTR|PITPNA_uc010cjt.3_5'UTR|PITPNA_uc010vqn.1_Non-coding_Transcript	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.	26					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TGGCCTCAGCCACAGAATACA	0.512													T	1456417	C	T	1456417	2	4	45	1	0	0	0	0	0	0	0	1	11947	581	21	3		3	PITPNA	17	1456417	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		1456417	79738793	69	2840											
SLC47A1	55244	broad.mit.edu	37	17	19459334	19459334	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:19459334G>A	uc002gvx.3	+	9	966	c.880G>A	c.(880-882)Gct>Act	p.A294T	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Missense_Mutation_p.A294T|SLC47A1_uc010vyz.1_Missense_Mutation_p.A271T|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.A99T|SLC47A1_uc010vza.1_Missense_Mutation_p.A6T|SLC47A1_uc010vzb.1_Missense_Mutation_p.A28T|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	294						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GGAGCTGGGCGCTCAGTCCAT	0.582													A	19459334	G	A	19459334	3	1	45	1	0	0	0	0	1	0	0	0	14647	1087	38	1	918	1	SLC47A1	17	19459334	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	18002917	19459334	61735876	70	2841											
KSR1	8844	broad.mit.edu	37	17	25909866	25909866	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:25909866C>T	uc010crg.3	+	4	749	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	237					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTCAGACTCCCCCACCCCCAG	0.706													T	25909866	C	T	25909866	3	4	45	1	0	0	0	0	1	0	0	0	8581	623	22	3	310	3	KSR1	17	25909866	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	6450532	25909866	55285344	71	2842											
NF1	4763	broad.mit.edu	37	17	29654793	29654793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:29654793G>A	uc002hgg.3	+	37	5928	c.5545G>A	c.(5545-5547)Gat>Aat	p.D1849N	NF1_uc002hgh.3_Missense_Mutation_p.D1828N|NF1_uc002hgi.1_Missense_Mutation_p.D861N|NF1_uc010cso.3_Missense_Mutation_p.D37N	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1849					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.D1849N(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCGGCCAAAAGATGTCCCTGG	0.468			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29654793	G	A	29654793	3	1	45	1	0	0	0	0	1	0	0	0	10356	942	33	3	5756	3	NF1	17	29654793	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	3744927	29654793	51540417	72	2843											
CALCOCO2	10241	broad.mit.edu	37	17	46937756	46937756	+	Silent	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:46937756A>G	uc010wlr.2	+	11	1240	c.1161A>G	c.(1159-1161)tcA>tcG	p.S387S	CALCOCO2_uc010wlq.2_Silent_p.S291S|CALCOCO2_uc010wls.2_Silent_p.S321S|CALCOCO2_uc002iof.3_Silent_p.S363S|CALCOCO2_uc010wlp.2_Silent_p.S384S	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	363					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TACCTACTTCAGATGAAGGAG	0.438													G	46937756	A	G	46937756	2	3	45	1	0	0	0	0	0	0	0	1	2578	175	7	4		4	CALCOCO2	17	46937756	Silent	SNP	A	TCGA-06-0214-01A-02D-1491-08	17282963	46937756	34257454	73	2844											
ACE	1636	broad.mit.edu	37	17	61560492	61560492	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:61560492G>A	uc002jau.2	+	8	1479	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.R299H|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	482	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTTAGTGGGCGTACCCCCCCT	0.552													A	61560492	G	A	61560492	3	1	45	1	0	0	0	0	1	0	0	0	136	1145	40	1	1479	1	ACE	17	61560492	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	14622736	61560492	19634718	74	2845											
SLC38A10	124565	broad.mit.edu	37	17	79220094	79220094	+	Silent	SNP	G	G	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:79220094G>C	uc002jzz.1	-	15	2997	c.2622C>G	c.(2620-2622)ctC>ctG	p.L874L	SLC38A10_uc002jzy.1_Silent_p.L792L|SLC38A10_uc021uey.1_5'UTR	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	874					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATTCCTCTGCGAGGCGCTCCT	0.657													C	79220094	G	C	79220094	2	2	45	1	0	0	0	0	0	0	0	1	14602	1045	37	5		5	SLC38A10	17	79220094	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	17659602	79220094	1975116	75	2846											
DLGAP1	9229	broad.mit.edu	37	18	3534543	3534543	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr18:3534543delG	uc002kmf.3	-	9	2655	c.2128delC	c.(2128-2130)ctgfs	p.L710fs	DLGAP1_uc010wyz.2_Frame_Shift_Del_p.L710fs|DLGAP1_uc010dkn.3_Frame_Shift_Del_p.L418fs|DLGAP1_uc002kme.2_Frame_Shift_Del_p.L408fs|DLGAP1_uc010wyw.2_Frame_Shift_Del_p.L416fs|DLGAP1_uc010wyx.2_Frame_Shift_Del_p.L432fs|DLGAP1_uc010wyy.2_Frame_Shift_Del_p.L394fs|DLGAP1_uc002kmg.3_Frame_Shift_Del_p.L408fs	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	710					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				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)				GAATTTTCCAGATTATCATGG	0.498													-	3534543	G	-	3534543	7	5	45	1	0	1	0	1	0	0	0	0	4559	933	33	0	821	0	DLGAP1	18	3534543	Frame_Shift_Del	DEL	G	TCGA-06-0214-01A-02D-1491-08		3534543	74542705	76	2847											
NAPG	8774	broad.mit.edu	37	18	10548993	10548993	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr18:10548993G>A	uc002kon.3	+	10	922	c.695G>A	c.(694-696)tGt>tAt	p.C232Y	NAPG_uc010wzr.2_Missense_Mutation_p.C150Y|NAPG_uc002kop.3_Missense_Mutation_p.C145Y	NM_003826	NP_003817	Q99747	SNAG_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.	232					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						AGTGAAGACTGTGCTGCCCTG	0.473													A	10548993	G	A	10548993	3	1	45	1	0	0	0	0	1	0	0	0	10164	1377	48	3	737	3	NAPG	18	10548993	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	7014450	10548993	67528255	77	2848											
MUC16	94025	broad.mit.edu	37	19	9048365	9048365	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:9048365G>T	uc002mkp.3	-	4	33470	c.33266C>A	c.(33265-33267)aCt>aAt	p.T11089N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11091	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						AGGTGAAACAGTTGGAGTTGG	0.488													T	9048365	G	T	9048365	3	4	45	1	0	0	0	0	1	0	0	0	9973	1029	36	5	10577	5	MUC16	19	9048365	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		9048365	50080618	78	2849											
NFIX	4784	broad.mit.edu	37	19	13201118	13201118	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:13201118G>A	uc010xmx.2	+	9	1485	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T	NFIX_uc002mwd.3_Silent_p.S420S|NFIX_uc002mwe.3_Silent_p.S412S|NFIX_uc002mwf.3_Silent_p.S382S|NFIX_uc002mwg.2_Silent_p.S419S			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	470					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACAGCATTCGCAACGACAGG	0.642													A	13201118	G	A	13201118	3	1	45	1	0	0	0	0	1	0	0	0	10374	1074	38	1	1294	1	NFIX	19	13201118	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	4152753	13201118	45927865	79	2850											
CCDC105	126402	broad.mit.edu	37	19	15132653	15132653	+	Silent	SNP	A	A	G			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:15132653A>G	uc002nae.2	+	5	1272	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	391					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGACCGCAGAAAAGCTGGACA	0.647													G	15132653	A	G	15132653	2	3	45	1	0	0	0	0	0	0	0	1	2740	11	1	4		4	CCDC105	19	15132653	Silent	SNP	A	TCGA-06-0214-01A-02D-1491-08	1931535	15132653	43996330	80	2851											
CLPTM1	1209	broad.mit.edu	37	19	45494188	45494188	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:45494188C>T	uc002pai.3	+	10	1458	c.1404C>T	c.(1402-1404)acC>acT	p.T468T	CLPTM1_uc010xxf.2_Silent_p.T366T|CLPTM1_uc010xxg.2_Silent_p.T454T|CLPTM1_uc021uvo.1_5'Flank	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	468					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGTCCTCGACCAAAGTGTATG	0.607													T	45494188	C	T	45494188	2	4	45	1	0	0	0	0	0	0	0	1	3554	581	21	3		3	CLPTM1	19	45494188	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	30361535	45494188	13634795	81	2852											
ERCC1	2067	broad.mit.edu	37	19	45923654	45923654	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:45923654T>C	uc002pbs.2	-	3	499	c.353A>G	c.(352-354)aAt>aGt	p.N118S	ERCC1_uc002pbt.2_Missense_Mutation_p.N118S|ERCC1_uc002pbu.2_Missense_Mutation_p.N46S|ERCC1_uc002pbv.3_Missense_Mutation_p.N118S	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	118					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAGGGCACATTGCGCACGAA	0.597								Nucleotide excision repair (NER)					C	45923654	T	C	45923654	3	2	45	1	0	0	0	0	1	0	0	0	5212	1493	52	4	697	4	ERCC1	19	45923654	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	429466	45923654	13205329	82	2853											
PRR12	57479	broad.mit.edu	37	19	50099367	50099367	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:50099367C>T	uc002poo.4	+	3	1775	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	356	Pro-rich.						DNA binding	p.G592V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TACCTGAGCTCAGTCTTGGCC	0.657													T	50099367	C	T	50099367	3	4	45	1	0	0	0	0	1	0	0	0	12584	838	29	3	1789	3	PRR12	19	50099367	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	4175713	50099367	9029616	83	2854											
LENG8	114823	broad.mit.edu	37	19	54968952	54968952	+	Silent	SNP	C	C	A	rs142424676	by1000genomes	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:54968952C>A	uc002qfv.1	+	10	1791	c.1647C>A	c.(1645-1647)gtC>gtA	p.V549V	LENG8_uc002qfw.2_Silent_p.V586V			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	549							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGTGCATGGTCAAGTGCCACT	0.537													A	54968952	C	A	54968952	2	1	45	1	0	0	0	0	0	0	0	1	8724	813	29	5		5	LENG8	19	54968952	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	4869585	54968952	4160031	84	2855											
ZNF552	79818	broad.mit.edu	37	19	58319417	58319417	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:58319417C>T	uc002qqg.3	-	2	1385	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.2_Silent_p.K401K	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	Homo sapiens zinc finger protein 552 (ZNF552), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCATAAGCCCTTTCTTTTGT	0.398													T	58319417	C	T	58319417	2	4	45	1	0	0	0	0	0	0	0	1	17981	680	24	3		3	ZNF552	19	58319417	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	3350465	58319417	809566	85	2856											
SIRPG	55423	broad.mit.edu	37	20	1615912	1615912	+	Splice_Site	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:1615912C>T	uc002wfm.1	-	4	1146	c.1081_splice	c.e4+1	p.G361_splice	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	361					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGTAACCTCACCAGGGGTAGC	0.428													T	1615912	C	T	1615912	5	4	45	1	0	0	0	0	0	0	1	0	14336	521	18	3	89	3	SIRPG	20	1615912	Splice_Site	SNP	C	TCGA-06-0214-01A-02D-1491-08		1615912	61409608	86	2857											
TSHZ2	128553	broad.mit.edu	37	20	51872367	51872367	+	Silent	SNP	C	C	T	rs138612067		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:51872367C>T	uc002xwo.3	+	1	3257	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	TSHZ2_uc021wex.1_Silent_p.H787H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	790					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H790H(2)		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)			CTCAGAAGCACGCTCTGTCTG	0.557													T	51872367	C	T	51872367	2	4	45	1	0	0	0	0	0	0	0	1	16621	535	19	1		1	TSHZ2	20	51872367	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	50256455	51872367	11153153	87	2858											
ADRM1	11047	broad.mit.edu	37	20	60882680	60882680	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:60882680C>T	uc002ycn.3	+	6	732	c.652C>T	c.(652-654)Ccg>Tcg	p.P218S	ADRM1_uc002yco.3_Missense_Mutation_p.P218S	NM_007002	NP_783163	Q16186	ADRM1_HUMAN	Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA.	218	Ser-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGCGGTCACCCCGTCATCCAC	0.701													T	60882680	C	T	60882680	3	4	45	1	0	0	0	0	1	0	0	0	345	623	22	3	674	3	ADRM1	20	60882680	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	9010313	60882680	2142840	88	2859											
OSBP2	23762	broad.mit.edu	37	22	31137177	31137177	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr22:31137177G>A	uc003aiy.1	+	1	778	c.674G>A	c.(673-675)cGt>cAt	p.R225H	OSBP2_uc011ala.1_Missense_Mutation_p.R60H|OSBP2_uc010gwc.1_Missense_Mutation_p.R52H|OSBP2_uc003aix.1_Missense_Mutation_p.R225H|OSBP2_uc011alb.1_Missense_Mutation_p.R225H|OSBP2_uc003aiz.1_Missense_Mutation_p.R225H	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	225	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CACACGTGCCGTGGAACCATC	0.542													A	31137177	G	A	31137177	3	1	45	1	0	0	0	0	1	0	0	0	11274	1145	40	1	680	1	OSBP2	22	31137177	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		31137177	20167389	89	2860											
EP300	2033	broad.mit.edu	37	22	41564810	41564810	+	Silent	SNP	C	C	T			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr22:41564810C>T	uc003azl.4	+	24	4506	c.4111C>T	c.(4111-4113)Ctg>Ttg	p.L1371L		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1371					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGTGTTGACCTGTGCTTCTT	0.478			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				T	41564810	C	T	41564810	2	4	45	1	0	0	0	0	0	0	0	1	5148	680	24	3		3	EP300	22	41564810	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	10427633	41564810	9739756	90	2861											
RSPO1	284654	broad.mit.edu	37	1	38082340	38082340	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:38082340G>A	uc001cbl.2	-	4	994	c.102C>T	c.(100-102)gcC>gcT	p.A34A	RSPO1_uc009vvf.2_Silent_p.A7A|RSPO1_uc001cbm.2_Silent_p.A34A|RSPO1_uc009vvg.2_Silent_p.A34A	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	34					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTCCCCTCGGCACTGACTG	0.557													A	38082340	G	A	38082340	2	1	46	1	0	0	0	0	0	0	0	1	13709	1103	39	2		2	RSPO1	1	38082340	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08		38082340	211168281	1	2862											
RPL5	6125	broad.mit.edu	37	1	93301897	93301898	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:93301897_93301898insT	uc001doz.3	+	4	553_554	c.475_476insT	c.(475-477)gttfs	p.V159fs	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Frame_Shift_Ins_p.V109fs|RPL5_uc001dpd.3_5'UTR|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	159					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCAATAAAGTTTTTGGTGCC	0.495													T	93301898	-	T	93301897	7	5	46	1	0	1	1	0	0	0	0	0	13597	1029	36	0	493	0	RPL5	1	93301897	Frame_Shift_Ins	INS	-	TCGA-06-0216-01B-01D-1492-08	55219557	93301897	155948724	2	2863											
HIPK1	204851	broad.mit.edu	37	1	114515777	114515777	+	Silent	SNP	G	G	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:114515777G>T	uc001eem.3	+	15	3437	c.3276G>T	c.(3274-3276)tcG>tcT	p.S1092S	HIPK1_uc001een.3_Silent_p.S1092S|HIPK1_uc001eeo.3_Silent_p.S718S|HIPK1_uc001eep.3_Silent_p.S698S|HIPK1_uc001eeq.3_Silent_p.S384S	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	1092	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCTACACTCGACAGGGCACC	0.647													T	114515777	G	T	114515777	2	4	46	1	0	0	0	0	0	0	0	1	7116	1045	37	5		5	HIPK1	1	114515777	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	21213880	114515777	134734844	3	2864											
CD2	914	broad.mit.edu	37	1	117311264	117311264	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:117311264G>A	uc001egu.4	+	4	944	c.915G>A	c.(913-915)caG>caA	p.Q305Q		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	305	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCGTGTTCAGCACCAGCCTC	0.622													A	117311264	G	A	117311264	2	1	46	1	0	0	0	0	0	0	0	1	2979	962	34	3		3	CD2	1	117311264	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	2795487	117311264	131939357	4	2865											
TCHH	7062	broad.mit.edu	37	1	152084995	152084995	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:152084995C>T	uc009wne.1	-	2	970	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	TCHH_uc001ezp.2_Missense_Mutation_p.R233Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	233					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGTCTTGCCGCTCTCGCCT	0.577													T	152084995	C	T	152084995	3	4	46	1	0	0	0	0	1	0	0	0	15697	652	23	2	5137	2	TCHH	1	152084995	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	34773731	152084995	97165626	5	2866											
PAPPA2	60676	broad.mit.edu	37	1	176526161	176526161	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:176526161C>A	uc001gkz.3	+	1	1867	c.703C>A	c.(703-705)Cca>Aca	p.P235T	PAPPA2_uc001gky.1_Missense_Mutation_p.P235T|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	235					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAAAAAGAGTCCACCGGAGGA	0.527													A	176526161	C	A	176526161	3	1	46	1	0	0	0	0	1	0	0	0	11433	855	30	5	705	5	PAPPA2	1	176526161	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	24441166	176526161	72724460	6	2867											
OR11L1	391189	broad.mit.edu	37	1	248004304	248004304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:248004304C>A	uc001idn.1	-	0	895	c.895G>T	c.(895-897)Gaa>Taa	p.E299*		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E299V(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTAACAGCTTCTTTGAAGTCT	0.393													A	248004304	C	A	248004304	4	1	46	1	0	0	0	0	0	1	0	0	10930	922	32	5	77	5	OR11L1	1	248004304	Nonsense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	71478143	248004304	1246317	7	2868											
SMEK2	57223	broad.mit.edu	37	2	55791468	55791468	+	Silent	SNP	C	C	T	rs145292231		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:55791468C>T	uc002rzc.3	-	14	2933	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	SMEK2_uc002rzb.3_Silent_p.K662K|SMEK2_uc002rzd.3_Silent_p.K715K|SMEK2_uc002ryz.3_Silent_p.K174K|SMEK2_uc002rza.3_Silent_p.K531K	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	747						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTCCATAAACTTTTCATAAT	0.333													T	55791468	C	T	55791468	2	4	46	1	0	0	0	0	0	0	0	1	14794	564	20	3		3	SMEK2	2	55791468	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08		55791468	187407905	8	2869											
TTN	7273	broad.mit.edu	37	2	179594120	179594120	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:179594120T>A	uc021vsy.1	-	60	15256	c.15031A>T	c.(15031-15033)Aac>Tac	p.N5011Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N1672Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5938	Ig-like 30.						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)			ATATGGAGGTTAAACACAGAC	0.463													A	179594120	T	A	179594120	3	1	46	1	0	0	0	0	1	0	0	0	16732	1754	61	5	85962	5	TTN	2	179594120	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08	123802652	179594120	63605253	9	2870											
INPP5D	3635	broad.mit.edu	37	2	233944058	233944058	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:233944058G>A	uc010zmo.2	+	1	301	c.148G>A	c.(148-150)Gtt>Att	p.V50I	INPP5D_uc010zmp.2_Missense_Mutation_p.V50I	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	50	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCGGAATTGCGTTTACACTTA	0.403													A	233944058	G	A	233944058	3	1	46	1	0	0	0	0	1	0	0	0	7756	1145	40	1	154	1	INPP5D	2	233944058	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	54349938	233944058	9255315	10	2871											
LRRC3B	116135	broad.mit.edu	37	3	26751911	26751911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:26751911G>A	uc003cdp.3	+	1	1337	c.748G>A	c.(748-750)Gat>Aat	p.D250N	LRRC3B_uc003cdq.3_Missense_Mutation_p.D250N|LRRC3B_uc021wuj.1_Missense_Mutation_p.D250N	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	250						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAAGAAAGCAGATGAACCTGA	0.418													A	26751911	G	A	26751911	3	1	46	1	0	0	0	0	1	0	0	0	8996	942	33	3	750	3	LRRC3B	3	26751911	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		26751911	171270519	11	2872											
AZI2	64343	broad.mit.edu	37	3	28381958	28381958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:28381958G>A	uc003ceb.3	-	1	683	c.151C>T	c.(151-153)Cga>Tga	p.R51*	AZI2_uc003cec.3_5'UTR|AZI2_uc003cee.4_Nonsense_Mutation_p.R51*|AZI2_uc011axd.1_Nonsense_Mutation_p.R51*|AZI2_uc003ceg.2_Nonsense_Mutation_p.R51*	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	Homo sapiens 5-azacytidine induced 2 (AZI2), transcript variant 1, mRNA.	51						mitochondrion|plasma membrane		p.K50K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TCCTTAAGTCGTTTTTTGATG	0.338													A	28381958	G	A	28381958	4	1	46	1	0	0	0	0	0	1	0	0	1241	1153	40	1	1144	1	AZI2	3	28381958	Nonsense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	1630047	28381958	169640472	12	2873											
IMPG2	50939	broad.mit.edu	37	3	100951684	100951684	+	Silent	SNP	A	A	G			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:100951684A>G	uc003duq.2	-	14	3377	c.3174T>C	c.(3172-3174)ccT>ccC	p.P1058P	IMPG2_uc011bhe.2_Silent_p.P921P|IMPG2_uc010hpj.1_Non-coding_Transcript	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	1058	EGF-like 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGCAGAAGTCAGGCTGTAGGT	0.488													G	100951684	A	G	100951684	2	3	46	1	0	0	0	0	0	0	0	1	7729	175	7	4		4	IMPG2	3	100951684	Silent	SNP	A	TCGA-06-0216-01B-01D-1492-08	72569726	100951684	97070746	13	2874											
DZIP3	9666	broad.mit.edu	37	3	108353719	108353719	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:108353719G>T	uc003dxd.3	+	10	1239	c.817_splice	c.e10-1	p.G273_splice	DZIP3_uc003dxf.1_Splice_Site_p.G273_splice|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Splice_Site_p.G273_splice|DZIP3_uc003dxg.1_Splice_Site	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	273					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254													T	108353719	G	T	108353719	3	4	46	1	0	0	0	0	1	0	0	0	4865	1188	41	5	852	5	DZIP3	3	108353719	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	7402035	108353719	89668711	14	2875											
COL6A5	256076	broad.mit.edu	37	3	130159044	130159044	+	Silent	SNP	T	T	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:130159044T>C	uc010htj.1	+	34	6356	c.5862T>C	c.(5860-5862)gcT>gcC	p.A1954A	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_5'UTR|COL6A5_uc010htk.1_5'UTR	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	1954	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTCGAGAGGCTTTCTTACCTG	0.403													C	130159044	T	C	130159044	2	2	46	1	0	0	0	0	0	0	0	1	3702	1596	56	4		4	COL6A5	3	130159044	Silent	SNP	T	TCGA-06-0216-01B-01D-1492-08	21805325	130159044	67863386	15	2876											
CEP70	80321	broad.mit.edu	37	3	138289888	138289888	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:138289888T>C	uc003esl.3	-	4	470	c.272A>G	c.(271-273)aAt>aGt	p.N91S	CEP70_uc011bmk.2_Missense_Mutation_p.N71S|CEP70_uc011bml.2_Missense_Mutation_p.N73S|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.N91S|CEP70_uc003esn.3_Missense_Mutation_p.N91S	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	91					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						AAGCTGTTGATTAGTTTCTAT	0.318													C	138289888	T	C	138289888	3	2	46	1	0	0	0	0	1	0	0	0	3259	1493	52	4	1577	4	CEP70	3	138289888	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08	8130844	138289888	59732542	16	2877											
PHC3	80012	broad.mit.edu	37	3	169840418	169840418	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:169840418C>T	uc003fgl.2	-	8	1937	c.1903G>A	c.(1903-1905)Ggg>Agg	p.G635R	PHC3_uc010hws.1_Missense_Mutation_p.G623R|PHC3_uc011bpq.1_Missense_Mutation_p.G582R	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	623	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TCTCCTCTCCCCACTGTTATA	0.393													T	169840418	C	T	169840418	3	4	46	1	0	0	0	0	1	0	0	0	11818	623	22	3	1112	3	PHC3	3	169840418	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	31550530	169840418	28182012	17	2878											
FNDC3B	64778	broad.mit.edu	37	3	172096143	172096143	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:172096143A>G	uc003fhy.3	+	23	3264	c.3092A>G	c.(3091-3093)cAg>cGg	p.Q1031R	FNDC3B_uc003fhz.4_Missense_Mutation_p.Q1031R	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	1031	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane		p.Q1031H(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)		TTCAGAATCCAGGCAGCAAGC	0.493													G	172096143	A	G	172096143	3	3	46	1	0	0	0	0	1	0	0	0	5970	188	7	4	3182	4	FNDC3B	3	172096143	Missense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	2255725	172096143	25926287	18	2879											
SH3TC1	54436	broad.mit.edu	37	4	8229589	8229589	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:8229589C>T	uc003gkv.4	+	11	2269	c.2168C>T	c.(2167-2169)cCc>cTc	p.P723L	SH3TC1_uc003gkw.4_Missense_Mutation_p.P647L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	723							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AAGTGCCTGCCCCACCTGGTG	0.657													T	8229589	C	T	8229589	3	4	46	1	0	0	0	0	1	0	0	0	14261	623	22	3	2210	3	SH3TC1	4	8229589	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08		8229589	182924687	19	2880											
KIAA1211	57482	broad.mit.edu	37	4	57181748	57181748	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:57181748G>A	uc003hbk.2	+	7	2471	c.2080G>A	c.(2080-2082)Ggt>Agt	p.G694S	KIAA1211_uc010iha.2_Missense_Mutation_p.G687S|KIAA1211_uc011bzz.1_Missense_Mutation_p.G604S|KIAA1211_uc003hbm.1_Missense_Mutation_p.G580S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	694										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)					GTTGAGGCCCGGTGATGAGTC	0.602													A	57181748	G	A	57181748	3	1	46	1	0	0	0	0	1	0	0	0	8215	1116	39	2	2098	2	KIAA1211	4	57181748	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	48952159	57181748	133972528	20	2881											
OTUD4	54726	broad.mit.edu	37	4	146077118	146077118	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:146077118C>T	uc003ika.4	-	7	603	c.465G>A	c.(463-465)gtG>gtA	p.V155V		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	220	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TAAATCCATTCACATCAGCAG	0.328													T	146077118	C	T	146077118	2	4	46	1	0	0	0	0	0	0	0	1	11314	813	29	3		3	OTUD4	4	146077118	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	88895370	146077118	45077158	21	2882											
EFNA5	1946	broad.mit.edu	37	5	106762936	106762936	+	Nonsense_Mutation	SNP	G	G	A	rs142282920		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr5:106762936G>A	uc003kol.3	-	1	682	c.400C>T	c.(400-402)Cga>Tga	p.R134*	EFNA5_uc010jbr.1_Nonsense_Mutation_p.R134*	NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	134					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AAATATTCTCGGCCTGGCCTG	0.428													A	106762936	G	A	106762936	4	1	46	1	0	0	0	0	0	1	0	0	4954	1124	39	2	302	2	EFNA5	5	106762936	Nonsense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		106762936	74152324	22	2883											
TBC1D9B	23061	broad.mit.edu	37	5	179315134	179315134	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr5:179315134C>T	uc003mlh.3	-	6	1258	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	TBC1D9B_uc003mli.3_Missense_Mutation_p.R408K|TBC1D9B_uc003mlj.3_Missense_Mutation_p.R408K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	408						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGGCTTTCCTGCTCCCGAT	0.567													T	179315134	C	T	179315134	3	4	46	1	0	0	0	0	1	0	0	0	15625	681	24	3	2593	3	TBC1D9B	5	179315134	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	72552198	179315134	1600126	23	2884											
KHDRBS2	202559	broad.mit.edu	37	6	62604633	62604633	+	Silent	SNP	T	T	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr6:62604633T>A	uc003peg.2	-	5	964	c.717A>T	c.(715-717)gcA>gcT	p.A239A		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	239	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGACACCTCTTGCTACAGGTG	0.607													A	62604633	T	A	62604633	2	1	46	1	0	0	0	0	0	0	0	1	8147	1799	63	5		5	KHDRBS2	6	62604633	Silent	SNP	T	TCGA-06-0216-01B-01D-1492-08		62604633	108510434	24	2885											
GPR85	54329	broad.mit.edu	37	7	112724285	112724288	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:112724285_112724288delTGAG	uc010ljv.2	-	1	1006_1009	c.489_492delCTCA	c.(487-492)tactcafs	p.Y163fs	GPR85_uc003vgp.1_Frame_Shift_Del_p.Y163fs|GPR85_uc003vgq.2_Frame_Shift_Del_p.Y163fs|GPR85_uc010ljw.1_Frame_Shift_Del_p.Y163fs|GPR85_uc022akd.1_Frame_Shift_Del_p.Y163fs	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	163						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCTAATGAATGAGTAAGTGCCCA	0.5													-	112724288	TGAG	-	112724285	7	5	46	1	0	1	0	1	0	0	0	0	6715	1451	51	0	624	0	GPR85	7	112724285	Frame_Shift_Del	DEL	TGAG	TCGA-06-0216-01B-01D-1492-08		112724285	46414378	25	2886											
GIMAP6	474344	broad.mit.edu	37	7	150325381	150325381	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:150325381G>A	uc022apv.1	-	2	995	c.515C>T	c.(514-516)cCc>cTc	p.P172L	GIMAP6_uc003whn.3_Missense_Mutation_p.P102L|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	102							GTP binding	p.G171S(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGACCTGGGGGGACAGAAT	0.622													A	150325381	G	A	150325381	3	1	46	1	0	0	0	0	1	0	0	0	6383	1232	43	3	577	3	GIMAP6	7	150325381	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	37601096	150325381	8813282	26	2887											
ABP1	26	broad.mit.edu	37	7	150554420	150554420	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:150554420C>T	uc003why.1	+	2	5080	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	ABP1_uc003whz.1_Missense_Mutation_p.R288C|ABP1_uc003wia.1_Missense_Mutation_p.R288C	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	288					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CCACAAGCCCCGCGGGGACTT	0.697													T	150554420	C	T	150554420	3	4	46	1	0	0	0	0	1	0	0	0	98	652	23	2	864	2	ABP1	7	150554420	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	229039	150554420	8584243	27	2888											
CPA6	57094	broad.mit.edu	37	8	68419124	68419124	+	Splice_Site	SNP	C	C	G			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr8:68419124C>G	uc003xxq.4	-	6	791	c.535_splice	c.e6-1	p.L179_splice	CPA6_uc003xxr.4_Splice_Site_p.L31_splice|CPA6_uc003xxs.2_Splice_Site_p.L179_splice	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	179					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTCTGCCCAGCTGAAAACAAG	0.408													G	68419124	C	G	68419124	5	3	46	1	0	0	0	0	0	0	1	0	3794	811	28	5	803	5	CPA6	8	68419124	Splice_Site	SNP	C	TCGA-06-0216-01B-01D-1492-08		68419124	77944898	28	2889											
CDH17	1015	broad.mit.edu	37	8	95189845	95189845	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr8:95189845G>A	uc003ygh.2	-	3	380	c.255C>T	c.(253-255)gaC>gaT	p.D85D	CDH17_uc011lgo.1_Silent_p.D85D|CDH17_uc011lgp.1_Silent_p.D85D	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	85	Cadherin 1.					integral to membrane	calcium ion binding			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)			TTGTTTCCCTGTCCAAGGCTC	0.458													A	95189845	G	A	95189845	2	1	46	1	0	0	0	0	0	0	0	1	3102	1368	48	3		3	CDH17	8	95189845	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	26770721	95189845	51174177	29	2890											
NFIB	4781	broad.mit.edu	37	9	14307244	14307244	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:14307244C>T	uc022bdo.1	-	1	841	c.306G>A	c.(304-306)ccG>ccA	p.P102P	NFIB_uc003zlf.3_Silent_p.P102P|NFIB_uc003zle.3_Silent_p.P102P|NFIB_uc022bdp.1_Silent_p.P128P|NFIB_uc011lmo.2_Silent_p.P102P	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	102					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGACACAGCACGGGTGCTTCT	0.527			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								T	14307244	C	T	14307244	2	4	46	1	0	0	0	0	0	0	0	1	10371	523	19	1		1	NFIB	9	14307244	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08		14307244	126906187	30	2891											
SHB	6461	broad.mit.edu	37	9	37948668	37948668	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:37948668C>T	uc004aax.3	-	4	1878	c.1310G>A	c.(1309-1311)aGc>aAc	p.S437N		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	437	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCTGGTCTGGCTGTTCCGGAC	0.647													T	37948668	C	T	37948668	3	4	46	1	0	0	0	0	1	0	0	0	14268	797	28	3	227	3	SHB	9	37948668	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	23641424	37948668	103264763	31	2892											
ALDOB	229	broad.mit.edu	37	9	104187273	104187273	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:104187273A>T	uc004bbk.2	-	7	933	c.851T>A	c.(850-852)cTc>cAc	p.L284H		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	284			L -> P (in HFI).		fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GATAGCATTGAGGTTGAGAGT	0.517													T	104187273	A	T	104187273	3	4	46	1	0	0	0	0	1	0	0	0	508	304	11	5	251	5	ALDOB	9	104187273	Missense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	66238605	104187273	37026158	32	2893											
PTGS1	5742	broad.mit.edu	37	9	125146014	125146014	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:125146014C>T	uc004bmg.1	+	7	1124	c.989C>T	c.(988-990)aCg>aTg	p.T330M	PTGS1_uc011lys.1_Missense_Mutation_p.T305M|PTGS1_uc010mwb.1_Missense_Mutation_p.T221M|PTGS1_uc004bmf.1_Missense_Mutation_p.T330M|PTGS1_uc004bmh.1_Missense_Mutation_p.T221M|PTGS1_uc011lyt.1_Missense_Mutation_p.T221M	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	330					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CTTTTCCAGACGACCCGCCTC	0.607													T	125146014	C	T	125146014	3	4	46	1	0	0	0	0	1	0	0	0	12755	536	19	1	1019	1	PTGS1	9	125146014	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	20958741	125146014	16067417	33	2894											
COQ4	51117	broad.mit.edu	37	9	131088069	131088069	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:131088069G>A	uc004bur.4	+	3	658	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	COQ4_uc011max.1_Missense_Mutation_p.R104Q|COQ4_uc010mxy.3_Missense_Mutation_p.R80Q	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.	104					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						GAGCGTCCCCGGATTTCGACA	0.587													A	131088069	G	A	131088069	3	1	46	1	0	0	0	0	1	0	0	0	3747	1116	39	2	325	2	COQ4	9	131088069	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	5942055	131088069	10125362	34	2895											
AGAP6	414189	broad.mit.edu	37	10	51768724	51768724	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:51768724G>C	uc001jix.4	+	7	1237	c.839G>C	c.(838-840)aGa>aCa	p.R280T		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	280					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G279C(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GGGAGCGGTAGAGCCATCCCC	0.507													C	51768724	G	C	51768724	3	2	46	1	0	0	0	0	1	0	0	0	372	942	33	5	869	5	AGAP6	10	51768724	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		51768724	83766023	35	2896											
PTEN	5728	broad.mit.edu	37	10	89692835	89692835	+	Missense_Mutation	SNP	G	G	C	rs57374291		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:89692835G>C	uc001kfb.3	+	4	1351	c.319G>C	c.(319-321)Gat>Cat	p.D107H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.D107Y(6)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(2)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692835	G	C	89692835	3	2	46	1	0	0	0	0	1	0	0	0	12738	942	33	5	337	5	PTEN	10	89692835	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	37924111	89692835	45841912	36	2897											
BNIP3	664	broad.mit.edu	37	10	133787377	133787377	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:133787377A>T	uc001lkv.1	-	1	242	c.117T>A	c.(115-117)taT>taA	p.Y39*	BNIP3_uc010qut.1_Nonsense_Mutation_p.Y39*	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3 (BNIP3), nuclear gene encoding mitochondrial protein, mRNA.	39					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGTCTCCATTATAAATAGAAA	0.517													T	133787377	A	T	133787377	4	4	46	1	0	0	0	0	0	1	0	0	1478	456	16	5	487	5	BNIP3	10	133787377	Nonsense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	44094542	133787377	1747370	37	2898											
MRGPRX4	117196	broad.mit.edu	37	11	18195500	18195500	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:18195500G>A	uc001mnv.1	+	0	1117	c.697G>A	c.(697-699)Ggc>Agc	p.G233S		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	233						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G233S(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCTGCCCTTCGGCATTCTGGG	0.527													A	18195500	G	A	18195500	3	1	46	1	0	0	0	0	1	0	0	0	9769	1116	39	2	699	2	MRGPRX4	11	18195500	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		18195500	116811016	38	2899											
LRRC4C	57689	broad.mit.edu	37	11	40137192	40137192	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:40137192C>T	uc021qgf.1	-	0	651	c.651G>A	c.(649-651)ccG>ccA	p.P217P	LRRC4C_uc001mxc.1_Silent_p.P213P|LRRC4C_uc001mxd.1_Silent_p.P213P|LRRC4C_uc001mxa.1_Silent_p.P217P|LRRC4C_uc001mxb.1_Silent_p.P213P	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	217					regulation of axonogenesis	integral to membrane	protein binding	p.P217P(4)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTTTATGAGCGGTGTGAGGT	0.458													T	40137192	C	T	40137192	2	4	46	1	0	0	0	0	0	0	0	1	9008	755	27	1		1	LRRC4C	11	40137192	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	21941692	40137192	94869324	39	2900											
LRRC55	219527	broad.mit.edu	37	11	56950084	56950084	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:56950084T>A	uc001njl.2	+	0	864	c.717T>A	c.(715-717)aaT>aaA	p.N239K		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	209	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCGGTGGCAATCCCTGGGTGT	0.632													A	56950084	T	A	56950084	3	1	46	1	0	0	0	0	1	0	0	0	9011	1432	50	5	719	5	LRRC55	11	56950084	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08	16812892	56950084	78056432	40	2901											
DAGLA	747	broad.mit.edu	37	11	61511858	61511858	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:61511858G>A	uc001nsa.3	+	19	3142	c.3026G>A	c.(3025-3027)aGt>aAt	p.S1009N		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	1009					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACGGGCCTCAGTAGCCAGGAA	0.657													A	61511858	G	A	61511858	3	1	46	1	0	0	0	0	1	0	0	0	4226	1029	36	3	3100	3	DAGLA	11	61511858	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	4561774	61511858	73494658	41	2902											
STX5	6811	broad.mit.edu	37	11	62593006	62593006	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:62593006G>C	uc001nvh.3	-	5	586	c.429C>G	c.(427-429)atC>atG	p.I143M	STX5_uc010rmj.2_Missense_Mutation_p.I143M|STX5_uc010rmi.2_Missense_Mutation_p.I47M	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	143					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TGAGGCTATTGATGTCCTGGT	0.507													C	62593006	G	C	62593006	3	2	46	1	0	0	0	0	1	0	0	0	15347	1280	45	5	662	5	STX5	11	62593006	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	1081148	62593006	72413510	42	2903											
NUMA1	4926	broad.mit.edu	37	11	71717271	71717271	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:71717271C>T	uc001orl.1	-	21	5674	c.5502G>A	c.(5500-5502)tcG>tcA	p.S1834S	NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1834					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGTAGAACGATGAGTTGG	0.552			T	RARA	APL								T	71717271	C	T	71717271	2	4	46	1	0	0	0	0	0	0	0	1	10750	523	19	1		1	NUMA1	11	71717271	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	9124265	71717271	63289245	43	2904											
FOLR4	390243	broad.mit.edu	37	11	94040846	94040846	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:94040846G>A	uc021qou.1	+	3	741	c.741G>A	c.(739-741)ccG>ccA	p.P247P		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	247						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TGTTCCTGCCGTTCCTTTCCT	0.617													A	94040846	G	A	94040846	2	1	46	1	0	0	0	0	0	0	0	1	5984	1132	40	1		1	FOLR4	11	94040846	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	22323575	94040846	40965670	44	2905											
BCAT1	586	broad.mit.edu	37	12	25047326	25047326	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:25047326C>T	uc001rgd.4	-	2	689	c.162G>A	c.(160-162)acG>acA	p.T54T	BCAT1_uc001rgc.3_Silent_p.T53T|BCAT1_uc010six.2_Silent_p.T66T|BCAT1_uc010siy.2_Silent_p.T54T|BCAT1_uc001rge.4_Silent_p.T30T	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	54					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GCATATGATCCGTGAACACAG	0.453													T	25047326	C	T	25047326	2	4	46	1	0	0	0	0	0	0	0	1	1354	639	23	2		2	BCAT1	12	25047326	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08		25047326	108804569	45	2906											
CIT	11113	broad.mit.edu	37	12	120142198	120142198	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:120142198G>A	uc001txj.2	-	40	5330	c.5274C>T	c.(5272-5274)aaC>aaT	p.N1758N	CIT_uc001txh.2_Silent_p.N1235N|CIT_uc001txi.2_Silent_p.N1716N	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1716	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAGGTTTTCGTTGTAGCGGA	0.512													A	120142198	G	A	120142198	2	1	46	1	0	0	0	0	0	0	0	1	3438	1136	40	1		1	CIT	12	120142198	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	95094872	120142198	13709697	46	2907											
AACS	65985	broad.mit.edu	37	12	125621257	125621257	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:125621257C>T	uc001uhc.3	+	16	1934	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N	AACS_uc001uhd.3_Intron|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.N174N	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	576					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCCAGTATAACAAGTACAGGG	0.597													T	125621257	C	T	125621257	2	4	46	1	0	0	0	0	0	0	0	1	9	477	17	3		3	AACS	12	125621257	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	5479059	125621257	8230638	47	2908											
GALNT9	50614	broad.mit.edu	37	12	132688129	132688129	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:132688129C>T	uc001ukc.4	-	6	1300	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H	GALNT9_uc009zyr.3_Missense_Mutation_p.R169H|GALNT9_uc001ukb.3_Missense_Mutation_p.R252H|GALNT9_uc001uka.3_Missense_Mutation_p.R29H	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	395					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CAGGGCGTTGCGCTTGGCATA	0.637													T	132688129	C	T	132688129	3	4	46	1	0	0	0	0	1	0	0	0	6220	768	27	1	647	1	GALNT9	12	132688129	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	7066872	132688129	1163766	48	2909											
HTR2A	3356	broad.mit.edu	37	13	47466570	47466570	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr13:47466570T>C	uc010acr.3	-	2	1257	c.568A>G	c.(568-570)Act>Gct	p.T190A	HTR2A_uc001vbr.3_Missense_Mutation_p.T106A	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	190					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AATGCCTTAGTTCTGGAGTTG	0.493													C	47466570	T	C	47466570	3	2	46	1	0	0	0	0	1	0	0	0	7441	1725	60	4	855	4	HTR2A	13	47466570	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08		47466570	67703308	49	2910											
DIS3	22894	broad.mit.edu	37	13	73355005	73355005	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr13:73355005G>A	uc001vix.4	-	1	739	c.365C>T	c.(364-366)aCt>aTt	p.T122I	PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.3_5'Flank|PIBF1_uc001vjc.3_5'Flank|PIBF1_uc010aep.3_5'Flank|DIS3_uc001viy.4_Intron|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	122	PINc.				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTAGTGAAAGTATAGAAATG	0.388										Multiple Myeloma(4;0.011)			A	73355005	G	A	73355005	3	1	46	1	0	0	0	0	1	0	0	0	4535	1029	36	3	2591	3	DIS3	13	73355005	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	25888435	73355005	41814873	50	2911											
KIAA0430	9665	broad.mit.edu	37	16	15692768	15692768	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:15692768C>T	uc002ddr.3	-	25	5134	c.4927G>A	c.(4927-4929)Gtt>Att	p.V1643I	KIAA0430_uc002ddq.3_Missense_Mutation_p.V1477I|KIAA0430_uc010uzv.2_Missense_Mutation_p.V1640I|KIAA0430_uc010uzw.2_Missense_Mutation_p.V1643I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1642						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGAGGATAACGGGGTCTGGT	0.592													T	15692768	C	T	15692768	3	4	46	1	0	0	0	0	1	0	0	0	8177	536	19	1	309	1	KIAA0430	16	15692768	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08		15692768	74661985	51	2912											
VPS35	55737	broad.mit.edu	37	16	46694426	46694426	+	Silent	SNP	T	T	G			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:46694426T>G	uc002eef.4	-	16	2448	c.2349A>C	c.(2347-2349)tcA>tcC	p.S783S	VPS35_uc002eed.3_3'UTR|VPS35_uc002eee.3_Silent_p.S744S	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	783					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CGGATTCTGGTGATTCCCGCC	0.438													G	46694426	T	G	46694426	2	3	46	1	0	0	0	0	0	0	0	1	17200	1683	59	5		5	VPS35	16	46694426	Silent	SNP	T	TCGA-06-0216-01B-01D-1492-08	31001658	46694426	43660327	52	2913											
ABCC11	85320	broad.mit.edu	37	16	48247385	48247385	+	Missense_Mutation	SNP	G	G	A	rs148839428		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:48247385G>A	uc002eff.1	-	8	1675	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	ABCC11_uc002efg.1_Missense_Mutation_p.T442M|ABCC11_uc002efh.1_Missense_Mutation_p.T442M|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	442	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTTGGAATTCGTGAGACCTTT	0.552													A	48247385	G	A	48247385	3	1	46	1	0	0	0	0	1	0	0	0	51	1145	40	1	2907	1	ABCC11	16	48247385	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	1552959	48247385	42107368	53	2914											
CNGB1	1258	broad.mit.edu	37	16	57993926	57993926	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:57993926G>A	uc002emt.2	-	9	692	c.627C>T	c.(625-627)gcC>gcT	p.A209A	CNGB1_uc010cdh.2_Silent_p.A203A|CNGB1_uc002emu.2_Silent_p.A209A	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	209	Pro-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCTCCCGGGCCTGCAGCT	0.687													A	57993926	G	A	57993926	2	1	46	1	0	0	0	0	0	0	0	1	3600	1219	43	3		3	CNGB1	16	57993926	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	9746541	57993926	32360827	54	2915											
SMTNL2	342527	broad.mit.edu	37	17	4496362	4496362	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:4496362G>A	uc002fyf.1	+	2	693	c.626G>A	c.(625-627)gGg>gAg	p.G209E	SMTNL2_uc002fye.2_Missense_Mutation_p.G65E	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	209										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGGTTCTCTGGGGAGACCTCA	0.657													A	4496362	G	A	4496362	3	1	46	1	0	0	0	0	1	0	0	0	14816	1232	43	3	636	3	SMTNL2	17	4496362	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		4496362	76698848	55	2916											
TMEM220	388335	broad.mit.edu	37	17	10628403	10628403	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:10628403G>A	uc002gmx.3	-	3	690	c.212C>T	c.(211-213)aCg>aTg	p.T71M	TMEM220_uc002gmy.3_Missense_Mutation_p.T61M	NM_001004313	NP_001004313	Q6QAJ8	TM220_HUMAN	Homo sapiens transmembrane protein 220 (TMEM220), mRNA.	71						integral to membrane		p.T71M(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						AGCCCACACCGTACAAAAGAG	0.448													A	10628403	G	A	10628403	3	1	46	1	0	0	0	0	1	0	0	0	16141	1145	40	1	282	1	TMEM220	17	10628403	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	6132041	10628403	70566807	56	2917											
HAP1	9001	broad.mit.edu	37	17	39884047	39884047	+	Silent	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:39884047C>T	uc002hxm.1	-	7	1254	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.S414S|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	414	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTCCTTCTCCGAAGCCAGCT	0.622													T	39884047	C	T	39884047	2	4	46	1	0	0	0	0	0	0	0	1	6953	639	23	2		2	HAP1	17	39884047	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	29255644	39884047	41311163	57	2918											
MUC16	94025	broad.mit.edu	37	19	9071728	9071728	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:9071728T>C	uc002mkp.3	-	2	15922	c.15718A>G	c.(15718-15720)Aag>Gag	p.K5240E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5242	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D5239N(1)		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						ACTGTGGACTTATCATGGTCT	0.478													C	9071728	T	C	9071728	3	2	46	1	0	0	0	0	1	0	0	0	9973	1763	61	4	28133	4	MUC16	19	9071728	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08		9071728	50057255	58	2919											
CD22	933	broad.mit.edu	37	19	35832284	35832285	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:35832284_35832285insT	uc010edt.3	+	7	1630_1631	c.1546_1547insT	c.(1546-1548)cttfs	p.L516fs	CD22_uc010edu.3_Frame_Shift_Ins_p.L428fs|CD22_uc010edv.3_Frame_Shift_Ins_p.L516fs|CD22_uc002nzb.4_Frame_Shift_Ins_p.L339fs|CD22_uc010xst.2_Frame_Shift_Ins_p.L344fs|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	516	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AATCAAGCCCCTTTCCGAGATT	0.574													T	35832285	-	T	35832284	7	5	46	1	0	1	1	0	0	0	0	0	2985	681	24	0	1572	0	CD22	19	35832284	Frame_Shift_Ins	INS	-	TCGA-06-0216-01B-01D-1492-08	26760556	35832284	23296699	59	2920											
GLTSCR2	29997	broad.mit.edu	37	19	48259848	48259848	+	Nonsense_Mutation	SNP	C	C	T	rs141718194		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:48259848C>T	uc002phm.2	+	10	1384	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	GLTSCR2_uc010elk.1_Non-coding_Transcript	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	454				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GATCGAGCCTCGAGAGAGAGC	0.632													T	48259848	C	T	48259848	4	4	46	1	0	0	0	0	0	1	0	0	6475	876	31	2	1402	2	GLTSCR2	19	48259848	Nonsense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	12427564	48259848	10869135	60	2921											
NLRP12	91662	broad.mit.edu	37	19	54304629	54304629	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:54304629C>T	uc002qcj.4	-	6	2831	c.2611G>A	c.(2611-2613)Gct>Act	p.A871T	NLRP12_uc010eqw.3_Missense_Mutation_p.A153T|NLRP12_uc002qch.4_Missense_Mutation_p.A870T|NLRP12_uc002qci.4_Missense_Mutation_p.A870T|NLRP12_uc002qck.4_Intron|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	870					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			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)		CAGGCAGCAGCAGTGAGGCGG	0.493													T	54304629	C	T	54304629	3	4	46	1	0	0	0	0	1	0	0	0	10474	710	25	3	593	3	NLRP12	19	54304629	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	6044781	54304629	4824354	61	2922											
WFDC13	164237	broad.mit.edu	37	20	44334525	44334525	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr20:44334525T>C	uc002xpd.3	+	2	371	c.263T>C	c.(262-264)gTc>gCc	p.V88A	WFDC10B_uc002xpb.3_5'Flank|WFDC10B_uc002xpc.3_5'Flank	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN	Homo sapiens WAP four-disulfide core domain 13 (WFDC13), mRNA.	88						extracellular region	peptidase inhibitor activity			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				GGCTCAGAAGTCATCATGCCT	0.353													C	44334525	T	C	44334525	3	2	46	1	0	0	0	0	1	0	0	0	17348	1667	58	4	273	4	WFDC13	20	44334525	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08		44334525	18690995	62	2923											
KLHL15	80311	broad.mit.edu	37	X	24006559	24006559	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:24006559C>T	uc004dba.4	-	3	1550	c.1294G>A	c.(1294-1296)Ggt>Agt	p.G432S		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	432										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTGATTCCACCGGTGATAAAC	0.443													T	24006559	C	T	24006559	3	4	46	1	0	0	0	0	1	0	0	0	8371	652	23	2	524	2	KLHL15	23	24006559	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08		24006559	131264001	63	2924											
FGD1	2245	broad.mit.edu	37	X	54496521	54496521	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:54496521G>A	uc004dtg.3	-	3	1763	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D	FGD1_uc011moi.1_Silent_p.D101D	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	343					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						cctcctcgtcgtcctcctcct	0.627													A	54496521	G	A	54496521	2	1	46	1	0	0	0	0	0	0	0	1	5832	1136	40	1		1	FGD1	23	54496521	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	30489962	54496521	100774039	64	2925											
ZMYM3	9203	broad.mit.edu	37	X	70467290	70467290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:70467290C>T	uc004dzh.2	-	12	2398	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.R740H|ZMYM3_uc004dzj.2_Missense_Mutation_p.R740H	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	740					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCAGAAATGACGGATCTGCCC	0.582													T	70467290	C	T	70467290	3	4	46	1	0	0	0	0	1	0	0	0	17698	536	19	1	1945	1	ZMYM3	23	70467290	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	15970769	70467290	84803270	65	2926											
CAPN6	827	broad.mit.edu	37	X	110494147	110494147	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:110494147G>T	uc004epc.2	-	7	1347	c.1156C>A	c.(1156-1158)Cag>Aag	p.Q386K	CAPN6_uc011msu.2_Missense_Mutation_p.Q131K	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	386	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.Q386K(2)		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						ACTCAAACCTGGGGATTCTGC	0.453													T	110494147	G	T	110494147	3	4	46	1	0	0	0	0	1	0	0	0	2630	1357	47	5	793	5	CAPN6	23	110494147	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	40026857	110494147	44776413	66	2927											
DDX26B	203522	broad.mit.edu	37	X	134714081	134714081	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:134714081G>C	uc004eyw.4	+	14	2740	c.2377G>C	c.(2377-2379)Ggt>Cgt	p.G793R	DDX26B_uc004eyx.4_Missense_Mutation_p.G394R	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	793										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCGAAAGTTTGGTCGAAGTAA	0.373													C	134714081	G	C	134714081	3	2	46	1	0	0	0	0	1	0	0	0	4353	1348	47	5	2435	5	DDX26B	23	134714081	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	24219934	134714081	20556479	67	2928											
GPR101	83550	broad.mit.edu	37	X	136113330	136113330	+	Silent	SNP	G	G	A			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:136113330G>A	uc011mwh.2	-	0	504	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	168						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCCCCAGCCGTAGAGTGGAG	0.607													A	136113330	G	A	136113330	2	1	46	1	0	0	0	0	0	0	0	1	6622	1140	40	1		1	GPR101	23	136113330	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	1399249	136113330	19157230	68	2929											
SOX3	6658	broad.mit.edu	37	X	139587063	139587063	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:139587063C>T	uc004fbd.1	-	0	163	c.163G>A	c.(163-165)Gct>Act	p.A55T		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	55					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGGGCTGGAGCGGCCACGGTG	0.667													T	139587063	C	T	139587063	3	4	46	1	0	0	0	0	1	0	0	0	14951	768	27	1	1181	1	SOX3	23	139587063	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	3473733	139587063	15683497	69	2930											
SLITRK2	84631	broad.mit.edu	37	X	144906039	144906039	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:144906039C>T	uc022cfn.1	+	0	2096	c.2096C>T	c.(2095-2097)cCc>cTc	p.P699L	SLITRK2_uc004fcd.3_Missense_Mutation_p.P699L|SLITRK2_uc010nsp.3_Missense_Mutation_p.P699L|SLITRK2_uc010nso.3_Missense_Mutation_p.P699L|SLITRK2_uc011mwq.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwr.2_Missense_Mutation_p.P699L|SLITRK2_uc011mws.2_Missense_Mutation_p.P699L|SLITRK2_uc004fcg.3_Missense_Mutation_p.P699L|SLITRK2_uc011mwt.2_Missense_Mutation_p.P699L|CXorf1_uc004fch.3_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	699						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAAAACCCCATCTACATG	0.478													T	144906039	C	T	144906039	3	4	46	1	0	0	0	0	1	0	0	0	14743	623	22	3	2098	3	SLITRK2	23	144906039	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	5318976	144906039	10364521	70	2931											
GPR50	9248	broad.mit.edu	37	X	150348278	150348278	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:150348278A>G	uc010ntg.2	+	1	361	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	GPR50_uc011myc.2_Missense_Mutation_p.M75V	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	75					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGCCGATATGCTGGTGGC	0.507													G	150348278	A	G	150348278	3	3	46	1	0	0	0	0	1	0	0	0	6697	449	16	4	229	4	GPR50	23	150348278	Missense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	5442239	150348278	4922282	71	2932											
OR2M4	26245	broad.mit.edu	37	1	248402311	248402311	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:248402311T>C	uc010pzh.2	+	0	81	c.81T>C	c.(79-81)ctT>ctC	p.L27L		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			ACACCTTCCTTTTTTCTCTGG	0.463													C	248402311	T	C	248402311	2	2	47	1	0	0	0	0	0	0	0	1	11012	1828	64	4		4	OR2M4	1	248402311	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08		248402311	848310	1	2933											
ZNF672	79894	broad.mit.edu	37	1	249142450	249142450	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:249142450T>G	uc001iex.3	+	3	1672	c.977T>G	c.(976-978)cTc>cGc	p.L326R	ZNF672_uc021pme.1_Missense_Mutation_p.L326R	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	Homo sapiens zinc finger protein 672 (ZNF672), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCTCGGACCTCACCAAGCAC	0.697													G	249142450	T	G	249142450	3	3	47	1	0	0	0	0	1	0	0	0	18076	1551	54	5	979	5	ZNF672	1	249142450	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08	740139	249142450	108171	2	2934											
ZNF692	55657	broad.mit.edu	37	1	249151478	249151478	+	Silent	SNP	G	G	T	rs141085159	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:249151478G>T	uc001ifc.2	-	3	641	c.430C>A	c.(430-432)Cgg>Agg	p.R144R	ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Silent_p.R149R|ZNF692_uc001iff.2_Silent_p.R144R	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAACTTCTCCGAGTAGTATGT	0.547													T	249151478	G	T	249151478	2	4	47	1	0	0	0	0	0	0	0	1	18094	1057	37	5		5	ZNF692	1	249151478	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	9028	249151478	99143	3	2935											
HS1BP3	64342	broad.mit.edu	37	2	20840922	20840922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr2:20840922C>A	uc002rdw.1	-	2	258	c.217G>T	c.(217-219)Gag>Tag	p.E73*	HS1BP3_uc002rdx.3_Nonsense_Mutation_p.E73*|HS1BP3_uc002rdy.3_Nonsense_Mutation_p.E73*	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	73	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCAATCTCGCTGTACTTT	0.547													A	20840922	C	A	20840922	4	1	47	1	0	0	0	0	0	1	0	0	7361	893	31	5	981	5	HS1BP3	2	20840922	Nonsense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		20840922	222358451	4	2936											
SLC4A10	57282	broad.mit.edu	37	2	162804208	162804208	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr2:162804208T>C	uc002ubx.4	+	16	2420	c.2236T>C	c.(2236-2238)Ttc>Ctc	p.F746L	SLC4A10_uc010zcs.2_Missense_Mutation_p.F727L|SLC4A10_uc002uby.4_Missense_Mutation_p.F716L	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	746					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGAAGCAGTTCAAGACTAG	0.383													C	162804208	T	C	162804208	3	2	47	1	0	0	0	0	1	0	0	0	14651	1725	60	4	2387	4	SLC4A10	2	162804208	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08	141963286	162804208	80395165	5	2937											
FGD5	152273	broad.mit.edu	37	3	14942566	14942566	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:14942566delG	uc003bzc.3	+	8	3372	c.3262delG	c.(3262-3264)gggfs	p.G1088fs	FGD5_uc011avk.2_Frame_Shift_Del_p.G1088fs|FGD5_uc003bzd.3_Frame_Shift_Del_p.G166fs	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1088					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CATGGAGCAAGGGGTGAGTGC	0.642													-	14942566	G	-	14942566	7	5	47	1	0	1	0	1	0	0	0	0	5836	1000	35	0	3296	0	FGD5	3	14942566	Frame_Shift_Del	DEL	G	TCGA-06-0219-01A-01D-1491-08		14942566	183079864	6	2938											
RPL15	6138	broad.mit.edu	37	3	23959481	23959481	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:23959481G>A	uc003ccr.3	+	1	524	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	NKIRAS1_uc003cck.3_Intron|NKIRAS1_uc003ccj.3_5'Flank|RPL15_uc011awi.2_Missense_Mutation_p.R44Q|RPL15_uc011awj.2_Missense_Mutation_p.R44Q|RPL15_uc003ccn.3_Missense_Mutation_p.R44Q|RPL15_uc003cco.3_Missense_Mutation_p.R44Q|RPL15_uc003ccp.3_Missense_Mutation_p.R44Q|RPL15_uc003ccq.3_Missense_Mutation_p.R44Q|RPL15_uc021wub.1_Missense_Mutation_p.R44Q	NM_001253379	NP_001240308	P61313	RL15_HUMAN	Homo sapiens ribosomal protein L15 (RPL15), transcript variant 2, mRNA.	44					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						CGCCCCACCCGGCCTGATAAA	0.557													A	23959481	G	A	23959481	3	1	47	1	0	0	0	0	1	0	0	0	13562	1116	39	2	133	2	RPL15	3	23959481	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	9016915	23959481	174062949	7	2939											
TRAT1	50852	broad.mit.edu	37	3	108568057	108568057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:108568057G>T	uc003dxi.1	+	4	403	c.259G>T	c.(259-261)Gag>Tag	p.E87*	TRAT1_uc010hpx.1_Nonsense_Mutation_p.E50*	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	87					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.P86R(1)|p.E87D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGCCCGACCAGAGAAATCTGT	0.353													T	108568057	G	T	108568057	4	4	47	1	0	0	0	0	0	1	0	0	16463	943	33	5	277	5	TRAT1	3	108568057	Nonsense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	84608576	108568057	89454373	8	2940											
UROC1	131669	broad.mit.edu	37	3	126236443	126236443	+	Silent	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:126236443C>T	uc010hsi.2	-	0	174	c.120G>A	c.(118-120)gaG>gaA	p.E40E	UROC1_uc003eiz.2_Silent_p.E40E	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	40					histidine catabolic process	cytosol	urocanate hydratase activity			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)		TTACCTGTTTCTCCACAGGGC	0.677													T	126236443	C	T	126236443	2	4	47	1	0	0	0	0	0	0	0	1	17025	912	32	3		3	UROC1	3	126236443	Silent	SNP	C	TCGA-06-0219-01A-01D-1491-08	17668386	126236443	71785987	9	2941											
CLCN2	1181	broad.mit.edu	37	3	184071135	184071135	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:184071135C>T	uc003foi.3	-	16	2055	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	CLCN2_uc003foh.3_Missense_Mutation_p.R168H|CLCN2_uc010hya.2_Missense_Mutation_p.R627H|CLCN2_uc011brl.2_Missense_Mutation_p.R644H|CLCN2_uc011brm.2_Missense_Mutation_p.R600H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	644			R -> C (no effect).			chloride channel complex	voltage-gated chloride channel activity	p.A643>?(4)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCCGCCGGCGGGCTGGGCT	0.627													T	184071135	C	T	184071135	3	4	47	1	0	0	0	0	1	0	0	0	3463	768	27	1	797	1	CLCN2	3	184071135	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	57834692	184071135	13951295	10	2942											
LPP	4026	broad.mit.edu	37	3	188327129	188327129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:188327129C>T	uc003frs.2	+	5	856	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	LPP_uc011bsg.2_Nonsense_Mutation_p.Q204*|LPP_uc011bsi.2_Nonsense_Mutation_p.Q204*|LPP_uc003frt.3_Nonsense_Mutation_p.Q204*|LPP_uc011bsj.2_Nonsense_Mutation_p.Q41*	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	204	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCCCAGCCTCAGCCAGTCCC	0.567			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								T	188327129	C	T	188327129	4	4	47	1	0	0	0	0	0	1	0	0	8923	827	29	3	624	3	LPP	3	188327129	Nonsense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	4255994	188327129	9695301	11	2943											
ZNF518B	85460	broad.mit.edu	37	4	10445311	10445311	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr4:10445311G>T	uc003gmn.3	-	2	3129	c.2642C>A	c.(2641-2643)tCc>tAc	p.S881Y	ZNF518B_uc021xme.1_Missense_Mutation_p.S881Y	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGACTTCTGGAAAGCAGTCT	0.403													T	10445311	G	T	10445311	3	4	47	1	0	0	0	0	1	0	0	0	17960	1174	41	5	586	5	ZNF518B	4	10445311	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		10445311	180708965	12	2944											
PRDM9	56979	broad.mit.edu	37	5	23527628	23527628	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:23527628C>T	uc003jgo.3	+	10	2613	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	811					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						GGAGTGTGGGCGGGGCTTTAG	0.572										HNSCC(3;0.000094)			T	23527628	C	T	23527628	3	4	47	1	0	0	0	0	1	0	0	0	12463	759	27	1	2469	1	PRDM9	5	23527628	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		23527628	157387632	13	2945											
TRIM23	373	broad.mit.edu	37	5	64887666	64887666	+	Missense_Mutation	SNP	A	A	G	rs150920611		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:64887666A>G	uc003jty.3	-	10	1741	c.1655T>C	c.(1654-1656)aTg>aCg	p.M552T	TRIM23_uc003jtw.3_Intron|TRIM23_uc003jtx.3_Intron	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	552	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATACAGTCCCATACCACTTCG	0.458													G	64887666	A	G	64887666	3	3	47	1	0	0	0	0	1	0	0	0	16494	217	8	4	140	4	TRIM23	5	64887666	Missense_Mutation	SNP	A	TCGA-06-0219-01A-01D-1491-08	41360038	64887666	116027594	14	2946											
SLCO6A1	133482	broad.mit.edu	37	5	101834438	101834438	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:101834438T>C	uc003knn.3	-	0	283	c.111A>G	c.(109-111)ggA>ggG	p.G37G	SLCO6A1_uc003kno.3_Silent_p.G37G|SLCO6A1_uc003knp.3_Silent_p.G37G|SLCO6A1_uc003knq.3_Silent_p.G37G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	37						integral to membrane|plasma membrane	transporter activity	p.G37R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCGGGGTTCCCTTGGCCC	0.602													C	101834438	T	C	101834438	2	2	47	1	0	0	0	0	0	0	0	1	14732	1770	62	4		4	SLCO6A1	5	101834438	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08	36946772	101834438	79080822	15	2947											
PCDHGC5	56113	broad.mit.edu	37	5	140719925	140719925	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:140719925G>A	uc003ljk.2	+	0	1572	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.E463K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	465	Cadherin 5.				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)			CTACATTCCCGAAAACAACCC	0.562													A	140719925	G	A	140719925	3	1	47	1	0	0	0	0	1	0	0	0	11571	1059	37	2		2	PCDHGC5	5	140719925	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	38885487	140719925	40195335	16	2948											
COL11A2	1302	broad.mit.edu	37	6	33152017	33152017	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:33152017C>A	uc003ocx.1	-	7	1252	c.1024G>T	c.(1024-1026)Ggg>Tgg	p.G342W	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	342	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCGTAGGGCCCTTCAGGGGGG	0.612													A	33152017	C	A	33152017	3	1	47	1	0	0	0	0	1	0	0	0	3668	681	24	5	4422	5	COL11A2	6	33152017	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		33152017	137963050	17	2949											
RSBN1L	222194	broad.mit.edu	37	7	77408002	77408002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:77408002G>A	uc010ldt.1	+	7	2102	c.2058G>A	c.(2056-2058)tgG>tgA	p.W686*		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	686						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTTAGCATGGCATATTCGGC	0.388													A	77408002	G	A	77408002	4	1	47	1	0	0	0	0	0	1	0	0	13697	1212	42	3	2088	3	RSBN1L	7	77408002	Nonsense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		77408002	81730661	18	2950											
TSGA13	114960	broad.mit.edu	37	7	130365809	130365809	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:130365809C>T	uc003vqi.3	-	3	606	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	TSGA13_uc003vqj.3_Missense_Mutation_p.R50Q	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	50										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGTGTAATGCCGAAGGTTCTC	0.433													T	130365809	C	T	130365809	3	4	47	1	0	0	0	0	1	0	0	0	16616	652	23	2	698	2	TSGA13	7	130365809	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	52957807	130365809	28772854	19	2951											
MLL3	58508	broad.mit.edu	37	7	151962220	151962220	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:151962220C>A	uc003wla.3	-	7	1306	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	363					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.C362*(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TAGTGCTGACCACAAGTAGTA	0.448			N		medulloblastoma								A	151962220	C	A	151962220	3	1	47	1	0	0	0	0	1	0	0	0	9622	594	21	5	13856	5	MLL3	7	151962220	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	21596411	151962220	7176443	20	2952											
ADAM7	8756	broad.mit.edu	37	8	24339684	24339684	+	Silent	SNP	G	G	A	rs147649440		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:24339684G>A	uc003xeb.3	+	8	848	c.735G>A	c.(733-735)acG>acA	p.T245T	ADAM7_uc003xec.3_Silent_p.T17T	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	245	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCCATGTGACGTTGGTTGGCA	0.303													A	24339684	G	A	24339684	2	1	47	1	0	0	0	0	0	0	0	1	251	1132	40	1		1	ADAM7	8	24339684	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08		24339684	122024338	21	2953											
OPRK1	4986	broad.mit.edu	37	8	54163341	54163341	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:54163341C>T	uc003xrh.1	-	1	632	c.257_splice	c.e1+1	p.R86_splice	OPRK1_uc022aup.1_Splice_Site|OPRK1_uc003xri.1_Splice_Site_p.R86_splice|OPRK1_uc010lyc.1_Splice_Site	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	86					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCGCGCTCACCGGATGATCAC	0.682													T	54163341	C	T	54163341	3	4	47	1	0	0	0	0	1	0	0	0	10885	666	23	2	897	2	OPRK1	8	54163341	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	29823657	54163341	92200681	22	2954											
KCNS2	3788	broad.mit.edu	37	8	99441436	99441436	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:99441436T>C	uc003yin.3	+	1	1579	c.1229T>C	c.(1228-1230)tTc>tCc	p.F410S	KCNS2_uc022azb.1_Missense_Mutation_p.F410S	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	410						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACCTTGATCTTCAATAAGTTC	0.552													C	99441436	T	C	99441436	3	2	47	1	0	0	0	0	1	0	0	0	8089	1783	62	4	1231	4	KCNS2	8	99441436	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08	45278095	99441436	46922586	23	2955											
CSMD3	114788	broad.mit.edu	37	8	113256758	113256758	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:113256758C>T	uc003ynu.3	-	64	10426	c.10267G>A	c.(10267-10269)Gta>Ata	p.V3423I	CSMD3_uc003yns.3_Missense_Mutation_p.V2625I|CSMD3_uc003ynt.3_Missense_Mutation_p.V3383I|CSMD3_uc011lhx.2_Missense_Mutation_p.V3254I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3423	Sushi 28.					integral to membrane|plasma membrane		p.V3423I(2)		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						TCCATCCCTACGACATTTGCA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113256758	C	T	113256758	3	4	47	1	0	0	0	0	1	0	0	0	3946	536	19	1	884	1	CSMD3	8	113256758	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	13815322	113256758	33107264	24	2956											
FER1L6	654463	broad.mit.edu	37	8	125047530	125047530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:125047530C>T	uc003yqw.3	+	18	2505	c.2299C>T	c.(2299-2301)Cga>Tga	p.R767*	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	767						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)			TCCTGGGAAACGACCGGCTGG	0.493													T	125047530	C	T	125047530	4	4	47	1	0	0	0	0	0	1	0	0	5815	528	19	1	2369	1	FER1L6	8	125047530	Nonsense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	11790772	125047530	21316492	25	2957											
EPPK1	83481	broad.mit.edu	37	8	144940504	144940504	+	Silent	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:144940504G>A	uc003zaa.1	-	0	6931	c.6918C>T	c.(6916-6918)gcC>gcT	p.A2306A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2306						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCGGTGACGGCGCGCTCGG	0.701													A	144940504	G	A	144940504	2	1	47	1	0	0	0	0	0	0	0	1	5190	1103	39	2		2	EPPK1	8	144940504	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	19892974	144940504	1423518	26	2958											
FRMD3	257019	broad.mit.edu	37	9	85924522	85924522	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr9:85924522T>C	uc004ams.2	-	9	1057	c.855A>G	c.(853-855)gcA>gcG	p.A285A	FRMD3_uc004amr.1_Silent_p.A285A|FRMD3_uc022bja.1_Silent_p.A241A|FRMD3_uc022biz.1_Silent_p.A91A	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	285	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AAGTATGGAATGCCAACATGG	0.333													C	85924522	T	C	85924522	2	2	47	1	0	0	0	0	0	0	0	1	6050	1451	51	4		4	FRMD3	9	85924522	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08		85924522	55288909	27	2959											
CYLC2	1539	broad.mit.edu	37	9	105767700	105767700	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr9:105767700G>T	uc004bbs.2	+	4	857	c.787G>T	c.(787-789)Gat>Tat	p.D263Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	263	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.D263D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGCCAAGAAAGATGCAAAGGA	0.383													T	105767700	G	T	105767700	3	4	47	1	0	0	0	0	1	0	0	0	4142	942	33	5	805	5	CYLC2	9	105767700	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	19843178	105767700	35445731	28	2960											
LIPK	643414	broad.mit.edu	37	10	90497505	90497505	+	Silent	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr10:90497505T>C	uc010qmv.2	+	5	783	c.783T>C	c.(781-783)acT>acC	p.T261T		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	261					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TCCTATTTACTCTGAGTGGAT	0.383													C	90497505	T	C	90497505	2	2	47	1	0	0	0	0	0	0	0	1	8827	1538	54	4		4	LIPK	10	90497505	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08		90497505	45037242	29	2961											
MUC5B	727897	broad.mit.edu	37	11	1272821	1272821	+	Missense_Mutation	SNP	G	G	A	rs56353324		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:1272821G>A	uc001lta.3	+	30	14770	c.14711G>A	c.(14710-14712)cGc>cAc	p.R4904H		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4904	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACCACCCGCACCCCTGCA	0.652													A	1272821	G	A	1272821	3	1	47	1	0	0	0	0	1	0	0	0	9979	1087	38	1	14842	1	MUC5B	11	1272821	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		1272821	133733695	30	2962											
OR51D1	390038	broad.mit.edu	37	11	4661423	4661423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:4661423C>T	uc010qyk.2	+	0	479	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGACCGCTTTGTGGC	0.542													T	4661423	C	T	4661423	3	4	47	1	0	0	0	0	1	0	0	0	11093	652	23	2	405	2	OR51D1	11	4661423	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	3388602	4661423	130345093	31	2963											
RBMXL2	27288	broad.mit.edu	37	11	7110545	7110545	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:7110545C>T	uc001mfc.2	+	0	381	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	65	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAAGGCCGCCGCCAGAGAC	0.647													T	7110545	C	T	7110545	3	4	47	1	0	0	0	0	1	0	0	0	13154	739	26	3	196	3	RBMXL2	11	7110545	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	2449122	7110545	127895971	32	2964											
SLC17A6	57084	broad.mit.edu	37	11	22391734	22391734	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:22391734G>C	uc001mqk.3	+	8	1454	c.1041_splice	c.e8+1	p.K347_splice		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	347					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAATTAGCAAGGTATGTAAAA	0.279													C	22391734	G	C	22391734	3	2	47	1	0	0	0	0	1	0	0	0	14421	1014	35	5	1071	5	SLC17A6	11	22391734	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	15281189	22391734	112614782	33	2965											
MPEG1	219972	broad.mit.edu	37	11	58978613	58978613	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:58978613A>G	uc001nnu.4	-	0	1882	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	576						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTGACGCAATAGGACACTTGG	0.602													G	58978613	A	G	58978613	3	3	47	1	0	0	0	0	1	0	0	0	9723	420	15	4	428	4	MPEG1	11	58978613	Missense_Mutation	SNP	A	TCGA-06-0219-01A-01D-1491-08	36586879	58978613	76027903	34	2966											
KCNJ8	3764	broad.mit.edu	37	12	21918727	21918727	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:21918727T>C	uc001rff.3	-	2	1543	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	402						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GAGGGAAGAATTGTTCCTTCG	0.408													C	21918727	T	C	21918727	3	2	47	1	0	0	0	0	1	0	0	0	8056	1493	52	4	73	4	KCNJ8	12	21918727	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08		21918727	111933168	35	2967											
NTN4	59277	broad.mit.edu	37	12	96052972	96052972	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:96052972C>T	uc001tei.3	-	9	2226	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	NTN4_uc009ztf.3_Missense_Mutation_p.E570K|NTN4_uc009ztg.3_Missense_Mutation_p.E556K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	593	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTTATATCCTCATGTCCTGCT	0.368													T	96052972	C	T	96052972	3	4	47	1	0	0	0	0	1	0	0	0	10702	835	29	3	113	3	NTN4	12	96052972	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	74134245	96052972	37798923	36	2968											
GLT8D2	83468	broad.mit.edu	37	12	104390581	104390581	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:104390581C>T	uc001tkh.1	-	7	1089	c.532G>A	c.(532-534)Gcg>Acg	p.A178T	GLT8D2_uc001tki.1_Missense_Mutation_p.A178T	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	178						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AAAGCCGCCGCGTGGCCCAGG	0.478													T	104390581	C	T	104390581	3	4	47	1	0	0	0	0	1	0	0	0	6470	768	27	1	533	1	GLT8D2	12	104390581	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	8337609	104390581	29461314	37	2969											
ACACB	32	broad.mit.edu	37	12	109696853	109696853	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:109696853C>T	uc001tob.3	+	46	6555	c.6436C>T	c.(6436-6438)Cgg>Tgg	p.R2146W	ACACB_uc001toc.3_Missense_Mutation_p.R2146W|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.R812W	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2146	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGACTTCAACCGGGAGAAGTT	0.572													T	109696853	C	T	109696853	3	4	47	1	0	0	0	0	1	0	0	0	107	643	23	2	6618	2	ACACB	12	109696853	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	5306272	109696853	24155042	38	2970											
ACAD10	80724	broad.mit.edu	37	12	112182642	112182642	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:112182642G>C	uc009zvx.3	+	13	2203	c.2003G>C	c.(2002-2004)aGc>aCc	p.S668T	ACAD10_uc001tsp.3_Missense_Mutation_p.S637T|ACAD10_uc001tsq.3_Missense_Mutation_p.S637T|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	637							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.Y667F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGGAGTTATAGCTCCGTTCCA	0.562													C	112182642	G	C	112182642	3	2	47	1	0	0	0	0	1	0	0	0	108	971	34	5	2053	5	ACAD10	12	112182642	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	2485789	112182642	21669253	39	2971											
NUFIP1	26747	broad.mit.edu	37	13	45554922	45554922	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr13:45554922C>T	uc001uzp.2	-	2	571	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	177					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCACAGGTATCACAAAAAAAG	0.313													T	45554922	C	T	45554922	3	4	47	1	0	0	0	0	1	0	0	0	10748	826	29	3	990	3	NUFIP1	13	45554922	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		45554922	69614956	40	2972											
ESRRB	2103	broad.mit.edu	37	14	76905790	76905790	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr14:76905790C>T	uc001xsr.3	+	3	465	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.H32Y	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCCCTCAGCCACCACAGCCC	0.682													T	76905790	C	T	76905790	3	4	47	1	0	0	0	0	1	0	0	0	5261	594	21	3	96	3	ESRRB	14	76905790	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		76905790	30443750	41	2973											
RYR3	6263	broad.mit.edu	37	15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr15:34130561C>T	uc001zhi.3	+	88	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_uc010bar.3_Missense_Mutation_p.A4122V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4127					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)		TTAGAAATTGCGGGTGAAGAG	0.483													T	34130561	C	T	34130561	3	4	47	1	0	0	0	0	1	0	0	0	13770	768	27	1	12734	1	RYR3	15	34130561	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		34130561	68400831	42	2974											
CDC42EP4	23580	broad.mit.edu	37	17	71282053	71282053	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr17:71282053G>A	uc002jjn.3	-	1	734	c.587C>T	c.(586-588)gCc>gTc	p.A196V	CDC42EP4_uc002jjo.3_Missense_Mutation_p.A196V|CDC42EP4_uc002jjp.1_Missense_Mutation_p.A126V|CDC42EP4_uc021ucn.1_Missense_Mutation_p.A196V	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	196					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCCGTACGTGGCCTTGGGCAC	0.632													A	71282053	G	A	71282053	3	1	47	1	0	0	0	0	1	0	0	0	3078	1203	42	3	487	3	CDC42EP4	17	71282053	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		71282053	9913157	43	2975											
EPB41L3	23136	broad.mit.edu	37	18	5428421	5428421	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr18:5428421C>G	uc002kmt.1	-	8	1042	c.956G>C	c.(955-957)gGt>gCt	p.G319A	EPB41L3_uc010wzh.1_Missense_Mutation_p.G319A|EPB41L3_uc002kmu.1_Missense_Mutation_p.G319A|EPB41L3_uc010dkq.1_Missense_Mutation_p.G210A|EPB41L3_uc010dks.1_Missense_Mutation_p.G341A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	319	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TATCAACAGACCACTTGCACA	0.393													G	5428421	C	G	5428421	3	3	47	1	0	0	0	0	1	0	0	0	5154	507	18	5	2363	5	EPB41L3	18	5428421	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		5428421	72648827	44	2976											
ATCAY	85300	broad.mit.edu	37	19	3907818	3907818	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:3907818G>A	uc010xhz.2	+	5	946	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	ATCAY_uc002lyy.4_Missense_Mutation_p.A149T|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	149					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGGCAGCGCCGCCAACGGGCG	0.642													A	3907818	G	A	3907818	3	1	47	1	0	0	0	0	1	0	0	0	1077	1087	38	1	459	1	ATCAY	19	3907818	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		3907818	55221165	45	2977											
ZNF536	9745	broad.mit.edu	37	19	30935903	30935903	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:30935903C>G	uc002nsu.1	+	1	1572	c.1434C>G	c.(1432-1434)caC>caG	p.H478Q	ZNF536_uc010edd.1_Missense_Mutation_p.H478Q	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					GCATGGCCCACGGCGTCCCGG	0.662													G	30935903	C	G	30935903	3	3	47	1	0	0	0	0	1	0	0	0	17971	535	19	5	1436	5	ZNF536	19	30935903	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	27028085	30935903	28193080	46	2978											
MLL2	9757	broad.mit.edu	37	19	36214780	36214780	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:36214780C>G	uc021usv.1	+	7	3206	c.3206C>G	c.(3205-3207)tCc>tGc	p.S1069C	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	831	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.S1071F(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GAGCAGGACTCCCTCCTGCAG	0.716			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			G	36214780	C	G	36214780	3	3	47	1	0	0	0	0	1	0	0	0	9621	855	30	5		5	MLL2	19	36214780	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	5278877	36214780	22914203	47	2979											
MARK4	57787	broad.mit.edu	37	19	45774954	45774954	+	Silent	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:45774954G>A	uc002pbb.2	+	7	1105	c.774G>A	c.(772-774)ggG>ggA	p.G258G	MARK4_uc002paz.2_Missense_Mutation_p.G69D|MARK4_uc002pba.2_Silent_p.G258G|MARK4_uc002pbc.1_Silent_p.G124G	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	258	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTTCGACGGGCACAACCTCA	0.657													A	45774954	G	A	45774954	2	1	47	1	0	0	0	0	0	0	0	1	9315	1190	42	3		3	MARK4	19	45774954	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	9560174	45774954	13354029	48	2980											
SIGLEC6	946	broad.mit.edu	37	19	52034451	52034451	+	Silent	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:52034451G>A	uc002pwy.3	-	1	598	c.390C>T	c.(388-390)taC>taT	p.Y130Y	SIGLEC6_uc002pwz.3_Silent_p.Y130Y|SIGLEC6_uc010ydb.2_Silent_p.Y94Y|SIGLEC6_uc010ydc.2_Silent_p.Y130Y|SIGLEC6_uc002pxa.3_Silent_p.Y130Y|SIGLEC6_uc010eoz.2_Silent_p.Y130Y|SIGLEC6_uc010epa.2_Silent_p.Y119Y|SIGLEC6_uc010epb.2_Silent_p.Y83Y	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	130					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATGTATAACCGTATTTCATCC	0.547													A	52034451	G	A	52034451	2	1	47	1	0	0	0	0	0	0	0	1	14312	1140	40	1		1	SIGLEC6	19	52034451	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	6259497	52034451	7094532	49	2981											
C20orf152	140894	broad.mit.edu	37	20	34572591	34572591	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr20:34572591G>A	uc002xer.1	+	5	763	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	C20orf152_uc002xes.1_Missense_Mutation_p.V203I|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	203								p.V203I(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GTCCACCATCGTCTGTATGGA	0.527													A	34572591	G	A	34572591	3	1	47	1	0	0	0	0	1	0	0	0	2092	1145	40	1	629	1	C20orf152	20	34572591	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		34572591	28452929	50	2982											
MXRA5	25878	broad.mit.edu	37	X	3235658	3235658	+	Missense_Mutation	SNP	C	C	T	rs140532419	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chrX:3235658C>T	uc004crg.4	-	5	6221	c.6064G>A	c.(6064-6066)Gtc>Atc	p.V2022I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2022	Ig-like C2-type 4.					extracellular region				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)				CACTTATAGACGCCTCTGTCT	0.642													T	3235658	C	T	3235658	3	4	47	1	0	0	0	0	1	0	0	0	10003	536	19	1	2430	1	MXRA5	23	3235658	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		3235658	152034902	51	2983											
AGRN	375790	broad.mit.edu	37	1	978952	978952	+	Silent	SNP	C	C	T	rs142440782		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:978952C>T	uc001ack.2	+	8	1688	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	546	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCCCTGTGCGAGGCCGAGA	0.692													T	978952	C	T	978952	2	4	48	1	0	0	0	0	0	0	0	1	397	776	27	1		1	AGRN	1	978952	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		978952	248271669	1	2984											
GALE	2582	broad.mit.edu	37	1	24125491	24125491	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:24125491C>G	uc009vqo.1	-	1	217	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	GALE_uc001bhv.1_Missense_Mutation_p.E3Q|GALE_uc001bhx.1_Missense_Mutation_p.E3Q|GALE_uc001bhz.1_Intron|GALE_uc009vqq.1_Missense_Mutation_p.E3Q	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	3					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AGCACCTTCTCTGCCATGGCA	0.592													G	24125491	C	G	24125491	3	3	48	1	0	0	0	0	1	0	0	0	6202	922	32	5	1079	5	GALE	1	24125491	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	23146539	24125491	225125130	2	2985											
USH2A	7399	broad.mit.edu	37	1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:215933077C>T	uc001hku.1	-	56	11543	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3719	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)			T	215933077	C	T	215933077	3	4	48	1	0	0	0	0	1	0	0	0	17033	536	19	1	4516	1	USH2A	1	215933077	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	191807586	215933077	33317544	3	2986											
OBSCN	84033	broad.mit.edu	37	1	228494689	228494689	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:228494689C>T	uc009xez.1	+	44	12058	c.12014C>T	c.(12013-12015)gCg>gTg	p.A4005V	OBSCN_uc001hsn.3_Missense_Mutation_p.A4005V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4005	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAGCCGGGCGGGTGCGAGC	0.657													T	228494689	C	T	228494689	3	4	48	1	0	0	0	0	1	0	0	0	10812	768	27	1	12188	1	OBSCN	1	228494689	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	12561612	228494689	20755932	4	2987											
RYR2	6262	broad.mit.edu	37	1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:237813234G>A	uc001hyl.1	+	49	7690	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2524	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			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)			TTGCACAGCCGTCTTGCCATT	0.463													A	237813234	G	A	237813234	3	1	48	1	0	0	0	0	1	0	0	0	13769	1145	40	1	7768	1	RYR2	1	237813234	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	9318545	237813234	11437387	5	2988											
FOXD4L1	200350	broad.mit.edu	37	2	114257073	114257073	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr2:114257073C>T	uc002tjw.4	+	0	413	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	80					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCGGCCCGAGCGACCCCTCAG	0.697													T	114257073	C	T	114257073	2	4	48	1	0	0	0	0	0	0	0	1	6000	767	27	1		1	FOXD4L1	2	114257073	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		114257073	128942300	6	2989											
FANCD2	2177	broad.mit.edu	37	3	10084272	10084272	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:10084272G>A	uc003buw.3	+	10	891	c.813G>A	c.(811-813)tcG>tcA	p.S271S	FANCD2_uc003bux.1_Silent_p.S271S|FANCD2_uc003buy.1_Silent_p.S271S	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	271	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.S271S(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATAAGTTGTCGTCTATTAGAT	0.373			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	10084272	G	A	10084272	2	1	48	1	0	0	0	0	0	0	0	1	5665	1132	40	1		1	FANCD2	3	10084272	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		10084272	187938158	7	2990											
PLS1	5357	broad.mit.edu	37	3	142405148	142405148	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:142405148T>G	uc010huv.3	+	8	1070	c.911T>G	c.(910-912)cTg>cGg	p.L304R	PLS1_uc003euz.3_Missense_Mutation_p.L304R|PLS1_uc003eva.3_Missense_Mutation_p.L304R	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	304	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TATTTTCATCTGCTTAATCAG	0.348													G	142405148	T	G	142405148	3	3	48	1	0	0	0	0	1	0	0	0	12107	1580	55	5	941	5	PLS1	3	142405148	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	132320876	142405148	55617282	8	2991											
CRYGS	1427	broad.mit.edu	37	3	186256595	186256595	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:186256595G>T	uc003fqe.3	-	2	479	c.427C>A	c.(427-429)Ccc>Acc	p.P143T		NM_017541	NP_060011	P22914	CRBS_HUMAN	Homo sapiens crystallin, gamma S (CRYGS), mRNA.	143	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CGGTAGTTGGGTAGCTCATAG	0.547													T	186256595	G	T	186256595	3	4	48	1	0	0	0	0	1	0	0	0	3919	1261	44	5	113	5	CRYGS	3	186256595	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	43851447	186256595	11765835	9	2992											
CCDC158	339965	broad.mit.edu	37	4	77252544	77252544	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:77252544C>T	uc003hkb.4	-	19	3036	c.2883G>A	c.(2881-2883)tcG>tcA	p.S961S		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	961	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCCCTCAACGAGTTGTTGC	0.363													T	77252544	C	T	77252544	2	4	48	1	0	0	0	0	0	0	0	1	2790	523	19	1		1	CCDC158	4	77252544	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		77252544	113901732	10	2993											
HPSE	10855	broad.mit.edu	37	4	84223361	84223361	+	Missense_Mutation	SNP	C	C	T	rs138550346		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:84223361C>T	uc003hoj.4	-	9	1366	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M	HPSE_uc003hoi.3_Missense_Mutation_p.V365M|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.V166M|HPSE_uc003hok.4_Missense_Mutation_p.V423M|HPSE_uc011cct.2_Missense_Mutation_p.V349M	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	423					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GAACCTTGCACGCTTGCCATT	0.408													T	84223361	C	T	84223361	3	4	48	1	0	0	0	0	1	0	0	0	7344	536	19	1	376	1	HPSE	4	84223361	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	6970817	84223361	106930915	11	2994											
ASB5	140458	broad.mit.edu	37	4	177136841	177136841	+	Silent	SNP	A	A	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:177136841A>G	uc003iuq.2	-	6	1014	c.900T>C	c.(898-900)tgT>tgC	p.C300C	ASB5_uc003iup.2_Silent_p.C247C	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	300	SOCS box.				intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCTTCGGATACAGAGTCGGC	0.363													G	177136841	A	G	177136841	2	3	48	1	0	0	0	0	0	0	0	1	1026	389	14	4		4	ASB5	4	177136841	Silent	SNP	A	TCGA-06-0237-01A-02D-1491-08	92913480	177136841	14017435	12	2995											
PLEKHG4B	153478	broad.mit.edu	37	5	182428	182428	+	Missense_Mutation	SNP	G	G	A	rs111247576	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:182428G>A	uc003jak.2	+	17	3856	c.3806G>A	c.(3805-3807)cGc>cAc	p.R1269H		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1269					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			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)		AGCCGCACACGCCAGGCCTGA	0.632													A	182428	G	A	182428	3	1	48	1	0	0	0	0	1	0	0	0	12072	1087	38	1	3876	1	PLEKHG4B	5	182428	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		182428	180732832	13	2996											
IL31RA	133396	broad.mit.edu	37	5	55204208	55204208	+	Silent	SNP	C	C	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:55204208C>A	uc003jql.3	+	10	1662	c.1470C>A	c.(1468-1470)atC>atA	p.I490I	IL31RA_uc003jqk.3_Silent_p.I490I|IL31RA_uc011cqj.2_Silent_p.I348I|IL31RA_uc003jqm.3_Silent_p.I471I|IL31RA_uc003jqn.3_Silent_p.I490I|IL31RA_uc010iwa.1_Silent_p.I458I|IL31RA_uc021xyq.1_Silent_p.I471I|IL31RA_uc003jqo.3_Silent_p.I348I	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	458	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTACACCATCTTTTACCAAG	0.473													A	55204208	C	A	55204208	2	1	48	1	0	0	0	0	0	0	0	1	7691	903	32	5		5	IL31RA	5	55204208	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	55021780	55204208	125711052	14	2997											
HSD17B4	3295	broad.mit.edu	37	5	118810095	118810095	+	Splice_Site	SNP	G	G	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:118810095G>C	uc003ksj.3	+	4	354	c.221_splice	c.e4-1	p.D74_splice	HSD17B4_uc011cwh.2_Splice_Site_p.D56_splice|HSD17B4_uc011cwg.2_Splice_Site_p.D50_splice|HSD17B4_uc011cwi.2_Splice_Site_p.D99_splice|HSD17B4_uc003ksk.4_Splice_Site|HSD17B4_uc011cwj.2_5'Flank|HSD17B4_uc010jcn.2_5'Flank	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	74	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CTTTCCCTCAGATTCAGTGGA	0.428													C	118810095	G	C	118810095	5	2	48	1	0	0	0	0	0	0	1	0	7386	956	33	5	234	5	HSD17B4	5	118810095	Splice_Site	SNP	G	TCGA-06-0237-01A-02D-1491-08	63605887	118810095	62105165	15	2998											
ADAMTS19	171019	broad.mit.edu	37	5	128796140	128796140	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:128796140A>C	uc003kvb.1	+	0	38	c.38A>C	c.(37-39)tAc>tCc	p.Y13S	ADAMTS19_uc003kvc.1_5'Flank	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	13					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCCTCCTTTACCAGCTGGGG	0.622													C	128796140	A	C	128796140	3	2	48	1	0	0	0	0	1	0	0	0	264	391	14	5	40	5	ADAMTS19	5	128796140	Missense_Mutation	SNP	A	TCGA-06-0237-01A-02D-1491-08	9986045	128796140	52119120	16	2999											
PCDHAC2	56139	broad.mit.edu	37	5	140237348	140237348	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:140237348C>T	uc003lhx.2	+	0	1715	c.1715C>T	c.(1714-1716)gCg>gTg	p.A572V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.A572V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	586	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCAGCGCGGGCGGTGCA	0.682													T	140237348	C	T	140237348	3	4	48	1	0	0	0	0	1	0	0	0	11533	768	27	1		1	PCDHAC2	5	140237348	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	11441208	140237348	40677912	17	3000											
PCDHAC2	56135	broad.mit.edu	37	5	140307832	140307832	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:140307832T>C	uc003lih.2	+	0	1531	c.1355T>C	c.(1354-1356)cTt>cCt	p.L452P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.L452P	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	476	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGGAACTTTTCGTTGCT	0.527													C	140307832	T	C	140307832	3	2	48	1	0	0	0	0	1	0	0	0	11533	1609	56	4		4	PCDHAC2	5	140307832	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	70484	140307832	40607428	18	3001											
KIF4B	285643	broad.mit.edu	37	5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:154395374G>A	uc010jih.1	+	0	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	652					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R652H(3)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408													A	154395374	G	A	154395374	3	1	48	1	0	0	0	0	1	0	0	0	8304	1145	40	1	1957	1	KIF4B	5	154395374	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	14087542	154395374	26519886	19	3002											
TRIM52	84851	broad.mit.edu	37	5	180687305	180687305	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:180687305G>A	uc003mnp.3	-	0	815	c.510C>T	c.(508-510)caC>caT	p.H170H	BC016291_uc003mnq.3_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.	170						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		AAGGAGGCGGGTGGATGTCAG	0.537													A	180687305	G	A	180687305	2	1	48	1	0	0	0	0	0	0	0	1	16524	1252	44	3		3	TRIM52	5	180687305	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08	26291931	180687305	227955	20	3003											
DNAH8	1769	broad.mit.edu	37	6	38885721	38885721	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:38885721C>A	uc021yzh.1	+	69	10438	c.10329C>A	c.(10327-10329)ttC>ttA	p.F3443L	DNAH8_uc003ooe.2_Missense_Mutation_p.F3226L|LOC100131047_uc003oof.2_Intron	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						CAACAGGATTCCTGTGGAGCC	0.333													A	38885721	C	A	38885721	3	1	48	1	0	0	0	0	1	0	0	0	4607	854	30	5	9940	5	DNAH8	6	38885721	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08		38885721	132229346	21	3004											
RSPO3	84870	broad.mit.edu	37	6	127469869	127469869	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:127469869G>C	uc003qas.1	+	1	464	c.174G>C	c.(172-174)aaG>aaC	p.K58N	RSPO3_uc003qar.3_Missense_Mutation_p.K58N	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	58						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TGTCATGTAAGCCCAGACTAT	0.423													C	127469869	G	C	127469869	3	2	48	1	0	0	0	0	1	0	0	0	13711	962	34	5	180	5	RSPO3	6	127469869	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	88584148	127469869	43645198	22	3005											
QKI	9444	broad.mit.edu	37	6	163984752	163984755	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:163984752_163984755delGTAA	uc003qui.3	+	6	1485	c.934_splice	c.e6+1	p.G312_splice	QKI_uc003quj.3_Splice_Site_p.G304_splice|QKI_uc003quh.3_Splice_Site_p.E304_splice|QKI_uc003que.3_Frame_Shift_Del_p.G312fs|QKI_uc003quf.3_Splice_Site_p.E312_splice|QKI_uc003qug.3_Splice_Site_p.G312_splice	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	312					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GGTGTATTAGGTAAGTTCTTCTCC	0.387													-	163984755	GTAA	-	163984752	8	5	48	1	0	1	0	1	0	0	1	0	12873	1275	44	0	957	0	QKI	6	163984752	Splice_Site	DEL	GTAA	TCGA-06-0237-01A-02D-1491-08	36514883	163984752	7130315	23	3006											
DNAH11	8701	broad.mit.edu	37	7	21639469	21639469	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:21639469T>C	uc003svc.3	+	14	2763	c.2732T>C	c.(2731-2733)aTt>aCt	p.I911T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	911	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGAATTCATTGACGACATT	0.373									Kartagener syndrome				C	21639469	T	C	21639469	3	2	48	1	0	0	0	0	1	0	0	0	4599	1493	52	4	2790	4	DNAH11	7	21639469	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08		21639469	137499194	24	3007											
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:55210075T>G	uc003tqk.3	+	1	431	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_uc003tqh.3_Missense_Mutation_p.L62R|EGFR_uc003tqi.3_Missense_Mutation_p.L62R|EGFR_uc003tqj.3_Missense_Mutation_p.L62R|EGFR_uc022adm.1_Missense_Mutation_p.L62R|EGFR_uc010kzg.2_Missense_Mutation_p.L62R|EGFR_uc022adn.1_Missense_Mutation_p.L62R|EGFR_uc011kco.2_Missense_Mutation_p.L9R	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.L62R(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55210075	T	G	55210075	3	3	48	1	0	0	0	0	1	0	0	0	4967	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	33570606	55210075	103928588	25	3008											
JHDM1D	80853	broad.mit.edu	37	7	139790907	139790907	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:139790907C>T	uc003vvm.3	-	19	2817	c.2813G>A	c.(2812-2814)cGt>cAt	p.R938H	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	938					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CACAAAGAAACGTGCATGGCC	0.502													T	139790907	C	T	139790907	3	4	48	1	0	0	0	0	1	0	0	0	7948	536	19	1	16	1	JHDM1D	7	139790907	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	84580832	139790907	19347756	26	3009											
MLL3	58508	broad.mit.edu	37	7	151849845	151849845	+	Silent	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:151849845T>C	uc003wla.3	-	48	12690	c.12471A>G	c.(12469-12471)ttA>ttG	p.L4157L	MLL3_uc003wkz.3_Silent_p.L3275L|MLL3_uc003wkx.3_Silent_p.L315L|MLL3_uc003wky.3_Silent_p.L1721L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4157					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAGAGCTCACTAATCTGGGAG	0.498			N		medulloblastoma								C	151849845	T	C	151849845	2	2	48	1	0	0	0	0	0	0	0	1	9622	1519	53	4		4	MLL3	7	151849845	Silent	SNP	T	TCGA-06-0237-01A-02D-1491-08	12058938	151849845	7288818	27	3010											
RP1L1	94137	broad.mit.edu	37	8	10469370	10469370	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr8:10469370C>T	uc003wtc.3	-	3	2467	c.2238G>A	c.(2236-2238)tcG>tcA	p.S746S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	746					intracellular signal transduction					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)		AAACAAAATCCGAGTGGACTG	0.652													T	10469370	C	T	10469370	2	4	48	1	0	0	0	0	0	0	0	1	13533	639	23	2		2	RP1L1	8	10469370	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		10469370	135894652	28	3011											
NOV	4856	broad.mit.edu	37	8	120435276	120435276	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr8:120435276G>T	uc003yoq.2	+	4	1199	c.978G>T	c.(976-978)atG>atT	p.M326I		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	326	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCCAGTGATGGTCATTGGGA	0.537													T	120435276	G	T	120435276	3	4	48	1	0	0	0	0	1	0	0	0	10553	1348	47	5	996	5	NOV	8	120435276	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	109965906	120435276	25928746	29	3012											
RAG1	5896	broad.mit.edu	37	11	36596275	36596275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:36596275G>A	uc021qgb.1	+	0	1421	c.1421G>A	c.(1420-1422)cGt>cAt	p.R474H	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R474H	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	474			R -> H (in OS/T(-)B(-)NK(+) SCID; atypical).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGGCCATCCGTGTCAACACC	0.557									Familial Hemophagocytic Lymphohistiocytosis				A	36596275	G	A	36596275	3	1	48	1	0	0	0	0	1	0	0	0	13003	1145	40	1	1423	1	RAG1	11	36596275	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		36596275	98410241	30	3013											
GAB2	9846	broad.mit.edu	37	11	77937662	77937662	+	Silent	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:77937662T>G	uc001ozh.3	-	3	1158	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_uc001ozg.3_Silent_p.P314P	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582													G	77937662	T	G	77937662	2	3	48	1	0	0	0	0	0	0	0	1	6149	1683	59	5		5	GAB2	11	77937662	Silent	SNP	T	TCGA-06-0237-01A-02D-1491-08	41341387	77937662	57068854	31	3014											
KCNJ5	3762	broad.mit.edu	37	11	128781583	128781583	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:128781583G>A	uc001qet.3	+	1	729	c.415G>A	c.(415-417)Gct>Act	p.A139T	KCNJ5_uc009zck.3_Missense_Mutation_p.A139T|KCNJ5_uc001qew.3_Missense_Mutation_p.A139T	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	139					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTTCGTGTCCGCTTTCCTGTT	0.507													A	128781583	G	A	128781583	3	1	48	1	0	0	0	0	1	0	0	0	8054	1087	38	1	417	1	KCNJ5	11	128781583	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	50843921	128781583	6224933	32	3015											
NBEA	26960	broad.mit.edu	37	13	36202290	36202290	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr13:36202290G>A	uc021rid.1	+	48	8056	c.7522G>A	c.(7522-7524)Gga>Aga	p.G2508R	NBEA_uc021ric.1_Missense_Mutation_p.G2505R|NBEA_uc010abi.3_Missense_Mutation_p.G1164R|NBEA_uc010tee.1_Missense_Mutation_p.G301R|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.G301R|NBEA_uc010teg.1_Missense_Mutation_p.G301R|NBEA_uc001uvd.3_Missense_Mutation_p.G65R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2508	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAAGCAGCGAGGACCAGAAGC	0.438													A	36202290	G	A	36202290	3	1	48	1	0	0	0	0	1	0	0	0	10187	1001	35	3	7716	3	NBEA	13	36202290	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		36202290	78967588	33	3016											
INF2	64423	broad.mit.edu	37	14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr14:105174270_105174271insG	uc001ypb.2	+	7	1809_1810	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_uc001ypc.2_Frame_Shift_Ins_p.R556fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663													G	105174271	-	G	105174270	7	5	48	1	0	1	1	0	0	0	0	0	7734	759	27	0	1696	0	INF2	14	105174270	Frame_Shift_Ins	INS	-	TCGA-06-0237-01A-02D-1491-08		105174270	2175270	34	3017											
ZWILCH	55055	broad.mit.edu	37	15	66806421	66806421	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr15:66806421G>A	uc002aqb.3	+	3	447	c.201_splice	c.e3+1	p.V67_splice	RPL4_uc002apx.3_Intron|ZWILCH_uc010bhu.1_Intron|ZWILCH_uc002aqa.3_Splice_Site|ZWILCH_uc010bhv.3_Splice_Site	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	67					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TGGAAAAAGTGGTAAGTACTG	0.358													A	66806421	G	A	66806421	2	1	48	1	0	0	0	0	0	0	0	1	18245	1362	47	3		3	ZWILCH	15	66806421	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		66806421	35724971	35	3018											
YPEL3	83719	broad.mit.edu	37	16	30106203	30106203	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr16:30106203G>A	uc002dwl.3	-	2	1009	c.291C>T	c.(289-291)tgC>tgT	p.C97C	BOLA2_uc010bzb.1_Intron|TBX6_uc010veh.2_5'Flank|TBX6_uc002dwk.1_5'Flank|YPEL3_uc002dwm.3_Silent_p.C59C|YPEL3_uc002dwn.1_Silent_p.C97C|AK097453_uc002dwo.2_5'Flank	NM_031477	NP_001138996	P61236	YPEL3_HUMAN	Homo sapiens yippee-like 3 (Drosophila) (YPEL3), transcript variant 1, mRNA.	59						nucleolus				endometrium(1)|lung(2)	3						CGGCTGGCCCGCAGCCCACGT	0.632													A	30106203	G	A	30106203	2	1	48	1	0	0	0	0	0	0	0	1	17488	1079	38	1		1	YPEL3	16	30106203	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		30106203	60248550	36	3019											
GPR114	221188	broad.mit.edu	37	16	57597817	57597817	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr16:57597817C>T	uc002ely.3	+	4	878	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	GPR114_uc002elx.4_Missense_Mutation_p.R119W|GPR114_uc010vhr.2_Missense_Mutation_p.R119W	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	119					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGAGCTGACCCGGGACGCCTG	0.632													T	57597817	C	T	57597817	3	4	48	1	0	0	0	0	1	0	0	0	6631	643	23	2	369	2	GPR114	16	57597817	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	27491614	57597817	32756936	37	3020											
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:7578265A>G	uc002gim.2	-	5	778	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.3_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.2_Missense_Mutation_p.I156T|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(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)		TTCCACTCGGATAAGATGCTG	0.552		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)			G	7578265	A	G	7578265	3	3	48	1	0	0	0	0	1	0	0	0	16378	333	12	4	710	4	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-06-0237-01A-02D-1491-08		7578265	73616945	38	3021											
LIG3	3980	broad.mit.edu	37	17	33323604	33323604	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:33323604C>T	uc002hik.2	+	10	1884	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	LIG3_uc002hij.3_Silent_p.F585F	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	585					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AAGCAGCCTTCCAGGATGCTA	0.428								Other BER factors					T	33323604	C	T	33323604	2	4	48	1	0	0	0	0	0	0	0	1	8782	854	30	3		3	LIG3	17	33323604	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	25745339	33323604	47871606	39	3022											
XYLT2	64132	broad.mit.edu	37	17	48437602	48437602	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:48437602G>A	uc002iqo.3	+	10	2657	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	850					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCTGTCCCCCGACCCCAAATC	0.647													A	48437602	G	A	48437602	3	1	48	1	0	0	0	0	1	0	0	0	17461	1058	37	2	2590	2	XYLT2	17	48437602	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	15113998	48437602	32757608	40	3023											
NOL11	25926	broad.mit.edu	37	17	65733682	65733682	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:65733682delC	uc002jgd.1	+	11	1280	c.1277delC	c.(1276-1278)acafs	p.T426fs	NOL11_uc010wql.1_Frame_Shift_Del_p.T244fs|NOL11_uc010deu.1_Frame_Shift_Del_p.T21fs	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	426						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGAAGCAGACACCTGACTTT	0.408													-	65733682	C	-	65733682	7	5	48	1	0	1	0	1	0	0	0	0	10521	478	17	0	1323	0	NOL11	17	65733682	Frame_Shift_Del	DEL	C	TCGA-06-0237-01A-02D-1491-08	17296080	65733682	15461528	41	3024											
CTAGE1	64693	broad.mit.edu	37	18	19997860	19997860	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:19997860G>A	uc002ktv.1	-	0						NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGCTCCTCCGTAGCGCCAAG	0.587													A	19997860	G	A	19997860	1	1	48	1	0	0	0	0	0	0	0	0	3992	1160	40	1		1	CTAGE1	18	19997860	Translation_Start_Site	SNP	G	TCGA-06-0237-01A-02D-1491-08		19997860	58079388	42	3025											
DCC	1630	broad.mit.edu	37	18	50734089	50734089	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:50734089T>C	uc002lfe.2	+	10	2379	c.1763T>C	c.(1762-1764)cTg>cCg	p.L588P	DCC_uc010xdr.1_Missense_Mutation_p.L436P|DCC_uc010dpf.2_Missense_Mutation_p.L243P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	588	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGGAAGGCCTGAAAAAATTC	0.383													C	50734089	T	C	50734089	3	2	48	1	0	0	0	0	1	0	0	0	4282	1580	55	4	1805	4	DCC	18	50734089	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	30736229	50734089	27343159	43	3026											
SALL3	27164	broad.mit.edu	37	18	76753975	76753975	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:76753975T>G	uc002lmt.3	+	1	1984	c.1984T>G	c.(1984-1986)Tcg>Gcg	p.S662A	SALL3_uc010dra.3_Missense_Mutation_p.S269A	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGAAACCTCGAAGCTGCA	0.637													G	76753975	T	G	76753975	3	3	48	1	0	0	0	0	1	0	0	0	13812	1551	54	5	1990	5	SALL3	18	76753975	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	26019886	76753975	1323273	44	3027											
CCDC94	55702	broad.mit.edu	37	19	4268683	4268683	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:4268683G>A	uc002lzv.4	+	7	995	c.962G>A	c.(961-963)gGc>gAc	p.G321D		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.	321										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		GACAGCAACGGCAGCAACTGA	0.642													A	4268683	G	A	4268683	3	1	48	1	0	0	0	0	1	0	0	0	2873	1203	42	3	992	3	CCDC94	19	4268683	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		4268683	54860300	45	3028											
CYP4F2	8529	broad.mit.edu	37	19	15989717	15989717	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:15989717G>A	uc002nbs.1	-	12	1477	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	CYP4F2_uc010xot.1_Missense_Mutation_p.A327V	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	476					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A476V(2)|p.A476A(1)|p.M475K(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTCATCTCCGCCATCGCGAA	0.672													A	15989717	G	A	15989717	3	1	48	1	0	0	0	0	1	0	0	0	4188	1087	38	1	139	1	CYP4F2	19	15989717	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	11721034	15989717	43139266	46	3029											
FFAR3	2865	broad.mit.edu	37	19	35850542	35850542	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:35850542C>T	uc002nzd.3	+	1	825	c.750C>T	c.(748-750)atC>atT	p.I250I	FFAR3_uc021usm.1_Silent_p.I250I	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	250						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGGCTATATCTGCGGTGAAA	0.612													T	35850542	C	T	35850542	2	4	48	1	0	0	0	0	0	0	0	1	5829	903	32	3		3	FFAR3	19	35850542	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	19860825	35850542	23278441	47	3030											
CYP2B6	1555	broad.mit.edu	37	19	41515926	41515926	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:41515926A>T	uc002opr.1	+	5	857	c.850A>T	c.(850-852)Agc>Tgc	p.S284C	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	284					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CAGTGAATTCAGCCACCAGAA	0.562													T	41515926	A	T	41515926	3	4	48	1	0	0	0	0	1	0	0	0	4164	188	7	5	872	5	CYP2B6	19	41515926	Missense_Mutation	SNP	A	TCGA-06-0237-01A-02D-1491-08	5665384	41515926	17613057	48	3031											
SLC17A9	63910	broad.mit.edu	37	20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr20:61596986G>A	uc002yea.4	+	9	1154	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_uc002ydz.4_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	324					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.V324I(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652													A	61596986	G	A	61596986	3	1	48	1	0	0	0	0	1	0	0	0	14424	1145	40	1	1008	1	SLC17A9	20	61596986	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		61596986	1428534	49	3032											
EEF1A2	1917	broad.mit.edu	37	20	62122078	62122078	+	Silent	SNP	C	C	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr20:62122078C>T	uc002yfe.1	-	5	949	c.783G>A	c.(781-783)acG>acA	p.T261T		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	261						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCACGGGCACCGTGCCAATGC	0.647													T	62122078	C	T	62122078	2	4	48	1	0	0	0	0	0	0	0	1	4924	639	23	2		2	EEF1A2	20	62122078	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	525092	62122078	903442	50	3033											
DSCR6	53820	broad.mit.edu	37	21	38380466	38380466	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:38380466G>A	uc002yvv.3	+	1	324	c.114G>A	c.(112-114)ccG>ccA	p.P38P	DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	38						nucleus		p.P38>?(1)		NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				GCCCCGCGCCGTGGCGACCTT	0.577													A	38380466	G	A	38380466	2	1	48	1	0	0	0	0	0	0	0	1	4773	1132	40	1		1	DSCR6	21	38380466	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		38380466	9749429	51	3034											
SIK1	150094	broad.mit.edu	37	21	44841555	44841555	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:44841555G>T	uc002zdf.2	-	4	589	c.462C>A	c.(460-462)aaC>aaA	p.N154K		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	154	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E153K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCAGCAGGAGGTTCTCGGTCT	0.617													T	44841555	G	T	44841555	3	4	48	1	0	0	0	0	1	0	0	0	14317	1252	44	5	1929	5	SIK1	21	44841555	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	6461089	44841555	3288340	52	3035											
DCAF8L2	347442	broad.mit.edu	37	X	27766165	27766165	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:27766165G>T	uc011mjy.2	+	0	1240	c.1153G>T	c.(1153-1155)Ggt>Tgt	p.G385C		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.									p.V384F(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATTTGCAGTGGGTGGACAAGA	0.398													T	27766165	G	T	27766165	3	4	48	1	0	0	0	0	1	0	0	0	4278	1232	43	5	1155	5	DCAF8L2	23	27766165	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		27766165	127504395	53	3036											
SYTL5	94122	broad.mit.edu	37	X	37931389	37931389	+	Missense_Mutation	SNP	G	G	A	rs151098113	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:37931389G>A	uc004ddx.3	+	2	775	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SYTL5_uc004ddu.3_Missense_Mutation_p.R140Q|SYTL5_uc004ddv.3_Missense_Mutation_p.R140Q	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	140					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GATGTTGTCCGACAGTCCATT	0.378													A	37931389	G	A	37931389	3	1	48	1	0	0	0	0	1	0	0	0	15483	1058	37	2	429	2	SYTL5	23	37931389	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	10165224	37931389	117339171	54	3037											
MAOA	4128	broad.mit.edu	37	X	43571152	43571152	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:43571152C>A	uc004dfy.3	+	3	521	c.340C>A	c.(340-342)Cca>Aca	p.P114T	MAOA_uc011mkw.2_5'UTR	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	114					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	CGCCTTTCCACCAGTATGGAA	0.368													A	43571152	C	A	43571152	3	1	48	1	0	0	0	0	1	0	0	0	9225	507	18	5	354	5	MAOA	23	43571152	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	5639763	43571152	111699408	55	3038											
SLC38A5	92745	broad.mit.edu	37	X	48317931	48317931	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:48317931G>A	uc010nid.3	-	15	1486	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	SLC38A5_uc004djk.4_Silent_p.P385P	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	436					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCTGGATCTTGGGCCAGGATA	0.582													A	48317931	G	A	48317931	2	1	48	1	0	0	0	0	0	0	0	1	14607	1335	47	3		3	SLC38A5	23	48317931	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08	4746779	48317931	106952629	56	3039											
TGIF2LX	90316	broad.mit.edu	37	X	89177186	89177186	+	Silent	SNP	G	G	A			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:89177186G>A	uc022bzr.1	+	0	102	c.102G>A	c.(100-102)tcG>tcA	p.S34S	TGIF2LX_uc004efe.3_Silent_p.S34S	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	34						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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						CAATCATGTCGAGAAATAACG	0.577													A	89177186	G	A	89177186	2	1	48	1	0	0	0	0	0	0	0	1	15824	1045	37	2		2	TGIF2LX	23	89177186	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08	40859255	89177186	66093374	57	3040											
MAMLD1	10046	broad.mit.edu	37	X	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:149639325_149639327delCAG	uc011mxu.2	+	2	1715_1717	c.1405_1407delCAG	c.(1405-1407)cagdel	p.Q477del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q464del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q502del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q477del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q429del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	502					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													-	149639327	CAG	-	149639325	7	5	48	1	0	1	0	1	0	0	0	0	9208	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-06-0237-01A-02D-1491-08	60462139	149639325	5631235	58	3041											
ACAP3	116983	broad.mit.edu	37	1	1229020	1229020	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:1229020delA	uc001aeb.2	-	23	2503	c.2429delT	c.(2428-2430)ctgfs	p.L810fs	ACAP3_uc001ady.2_Frame_Shift_Del_p.L540fs|ACAP3_uc001aea.2_Frame_Shift_Del_p.L735fs	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	810					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCTGCCCGCCAGGGCGCCCGG	0.721													-	1229020	A	-	1229020	7	5	49	1	0	1	0	1	0	0	0	0	120	188	7	0	79	0	ACAP3	1	1229020	Frame_Shift_Del	DEL	A	TCGA-06-0238-01A-02D-1492-08		1229020	248021601	1	3042											
KPRP	448834	broad.mit.edu	37	1	152732806	152732806	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:152732806C>T	uc001fal.1	+	1	800	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	KPRP_uc021ozf.1_Missense_Mutation_p.R248C	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	248						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACAGCACCGCTCTCGGAG	0.612													T	152732806	C	T	152732806	3	4	49	1	0	0	0	0	1	0	0	0	8436	652	23	2	744	2	KPRP	1	152732806	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	151503786	152732806	96517815	2	3043											
OR10Z1	128368	broad.mit.edu	37	1	158577000	158577000	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:158577000G>A	uc010pio.2	+	0	772	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCTTCCTTCGTGTACCTGAG	0.493													A	158577000	G	A	158577000	3	1	49	1	0	0	0	0	1	0	0	0	10923	1145	40	1	774	1	OR10Z1	1	158577000	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	5844194	158577000	90673621	3	3044											
SPTA1	6708	broad.mit.edu	37	1	158650498	158650498	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:158650498C>G	uc001fst.1	-	4	752	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	185					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCTAGCTCCACTGATGTC	0.448													G	158650498	C	G	158650498	3	3	49	1	0	0	0	0	1	0	0	0	15115	864	30	5	6898	5	SPTA1	1	158650498	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	73498	158650498	90600123	4	3045											
ZNF496	84838	broad.mit.edu	37	1	247464286	247464286	+	Silent	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:247464286C>T	uc009xgv.3	-	7	1444	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K	ZNF496_uc001ico.3_Silent_p.K433K	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	433					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTCGTGCGGCTTCTCCTGCT	0.617													T	247464286	C	T	247464286	2	4	49	1	0	0	0	0	0	0	0	1	17942	796	28	3		3	ZNF496	1	247464286	Silent	SNP	C	TCGA-06-0238-01A-02D-1492-08	88813788	247464286	1786335	5	3046											
OR2T34	127068	broad.mit.edu	37	1	248737752	248737752	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:248737752C>A	uc001iep.1	-	0	307	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G103G(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			ATCTGGATCCCACAGCCTGAC	0.562													A	248737752	C	A	248737752	3	1	49	1	0	0	0	0	1	0	0	0	11025	594	21	5	653	5	OR2T34	1	248737752	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	1273466	248737752	512869	6	3047											
TEKT4	150483	broad.mit.edu	37	2	95537569	95537569	+	Missense_Mutation	SNP	G	G	A	rs66467545		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr2:95537569G>A	uc002stw.1	+	0	338	c.245G>A	c.(244-246)cGc>cAc	p.R82H	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	82					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGGCGCAGCGCACGCAGCAA	0.692													A	95537569	G	A	95537569	3	1	49	1	0	0	0	0	1	0	0	0	15752	1087	38	1	247	1	TEKT4	2	95537569	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		95537569	147661804	7	3048											
IWS1	55677	broad.mit.edu	37	2	128238721	128238721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr2:128238721G>A	uc002ton.2	-	13	2662	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	787					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTATCCAGTCGACTGATACCC	0.388													A	128238721	G	A	128238721	4	1	49	1	0	0	0	0	0	1	0	0	7931	1066	37	2	104	2	IWS1	2	128238721	Nonsense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	32701152	128238721	114960652	8	3049											
PCDH7	5099	broad.mit.edu	37	4	30725870	30725870	+	Silent	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr4:30725870A>G	uc003gsk.1	+	0	3834	c.2826A>G	c.(2824-2826)aaA>aaG	p.K942K	PCDH7_uc011bxx.2_Silent_p.K942K|PCDH7_uc021xnd.1_Silent_p.K942K|PCDH7_uc021xnc.1_Silent_p.K942K	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	942					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAACAAAAAATCTAAGCAGC	0.413													G	30725870	A	G	30725870	2	3	49	1	0	0	0	0	0	0	0	1	11516	98	4	4		4	PCDH7	4	30725870	Silent	SNP	A	TCGA-06-0238-01A-02D-1492-08		30725870	160428406	9	3050											
PTCD2	79810	broad.mit.edu	37	5	71627105	71627105	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:71627105A>G	uc003kcb.3	+	3	381	c.371A>G	c.(370-372)aAt>aGt	p.N124S	PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_Intron|PTCD2_uc011csh.2_Intron|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	124										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GAGAACAAAAATTTCACTTTG	0.438													G	71627105	A	G	71627105	3	3	49	1	0	0	0	0	1	0	0	0	12728	101	4	4	385	4	PTCD2	5	71627105	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		71627105	109288155	10	3051											
SV2C	22987	broad.mit.edu	37	5	75428120	75428120	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:75428120A>G	uc003kei.1	+	1	679	c.545A>G	c.(544-546)gAc>gGc	p.D182G		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	182					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCTGAGACAGACCTCTGCATC	0.502													G	75428120	A	G	75428120	3	3	49	1	0	0	0	0	1	0	0	0	15416	275	10	4	547	4	SV2C	5	75428120	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08	3801015	75428120	105487140	11	3052											
UQCRQ	27089	broad.mit.edu	37	5	132202700	132202701	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:132202700_132202701insG	uc003kya.1	+	1	201_202	c.127_128insG	c.(127-129)cggfs	p.R43fs	GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank	NM_014402	NP_055217	O14949	QCR8_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa (UQCRQ), nuclear gene encoding mitochondrial protein, mRNA.	43					respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGCCGCATTCGGGAGTCTTTC	0.634													G	132202701	-	G	132202700	7	5	49	1	0	1	1	0	0	0	0	0	17021	875	31	0	129	0	UQCRQ	5	132202700	Frame_Shift_Ins	INS	-	TCGA-06-0238-01A-02D-1492-08	56774580	132202700	48712560	12	3053											
PCDHAC2	56147	broad.mit.edu	37	5	140167621	140167621	+	Silent	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:140167621G>A	uc003lhb.2	+	0	1746	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.P582P	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	595					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGATTGGTGG	0.657													A	140167621	G	A	140167621	2	1	49	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140167621	Silent	SNP	G	TCGA-06-0238-01A-02D-1492-08	7964921	140167621	40747639	13	3054											
PCDHGC5	56113	broad.mit.edu	37	5	140720885	140720885	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:140720885G>A	uc003ljk.2	+	0	2532	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.E783K|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	793					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)			CATCAGCCAGGAGAGCTGTGA	0.488													A	140720885	G	A	140720885	3	1	49	1	0	0	0	0	1	0	0	0	11571	1175	41	3		3	PCDHGC5	5	140720885	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	553264	140720885	40194375	14	3055											
ODZ2	57451	broad.mit.edu	37	5	167627098	167627098	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:167627098C>G	uc010jjd.3	+	16	3365	c.3365C>G	c.(3364-3366)gCg>gGg	p.A1122G	ODZ2_uc003lzr.4_Missense_Mutation_p.A899G|ODZ2_uc003lzt.4_Missense_Mutation_p.A495G|ODZ2_uc010jje.3_Missense_Mutation_p.A393G	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AAGACAGATGCGTATGGCCAA	0.478													G	167627098	C	G	167627098	3	3	49	1	0	0	0	0	1	0	0	0	10835	768	27	5	3431	5	ODZ2	5	167627098	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	26906213	167627098	13288162	15	3056											
DAXX	1616	broad.mit.edu	37	6	33287338	33287338	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr6:33287338A>G	uc003oec.3	-	5	1963	c.1759T>C	c.(1759-1761)Tcc>Ccc	p.S587P	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.S587P|DAXX_uc021ywo.1_Missense_Mutation_p.S587P|DAXX_uc011dre.2_Missense_Mutation_p.S599P|DAXX_uc003oed.3_Missense_Mutation_p.S587P|DAXX_uc011drd.2_Missense_Mutation_p.S512P	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	587	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTGGAAGAGGAAATGTCCGTC	0.527			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								G	33287338	A	G	33287338	3	3	49	1	0	0	0	0	1	0	0	0	4243	246	9	4	475	4	DAXX	6	33287338	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		33287338	137827729	16	3057											
TFPI2	7980	broad.mit.edu	37	7	93516588	93516588	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:93516588G>A	uc003umy.1	-	3	691	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	206	BPTI/Kunitz inhibitor 3.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCACATGCACGTTTGCAATCC	0.323													A	93516588	G	A	93516588	3	1	49	1	0	0	0	0	1	0	0	0	15806	1145	40	1	99	1	TFPI2	7	93516588	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		93516588	65622075	17	3058											
ASZ1	136991	broad.mit.edu	37	7	117024817	117024817	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:117024817A>G	uc003vjb.2	-	5	713	c.650T>C	c.(649-651)aTg>aCg	p.M217T	ASZ1_uc011kno.1_Missense_Mutation_p.M217T|ASZ1_uc011knp.1_Missense_Mutation_p.M9T	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	217					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			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)			CTCACTTGGCATCTTTCCATC	0.353													G	117024817	A	G	117024817	3	3	49	1	0	0	0	0	1	0	0	0	1069	217	8	4	809	4	ASZ1	7	117024817	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08	23508229	117024817	42113846	18	3059											
KEL	3792	broad.mit.edu	37	7	142658531	142658531	+	Missense_Mutation	SNP	G	G	A	rs150577967		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:142658531G>A	uc003wcb.3	-	2	349	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	47					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)					GTCAGCACCCGCCTGGCCACT	0.547													A	142658531	G	A	142658531	3	1	49	1	0	0	0	0	1	0	0	0	8142	1086	38	1	2127	1	KEL	7	142658531	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	25633714	142658531	16480132	19	3060											
MLL3	58508	broad.mit.edu	37	7	151927093	151927093	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:151927093C>A	uc003wla.3	-	17	3110	c.2891G>T	c.(2890-2892)gGc>gTc	p.G964V	MLL3_uc003wkz.3_Missense_Mutation_p.G25V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	964					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCAAAACTGCCACAAACTAC	0.348			N		medulloblastoma								A	151927093	C	A	151927093	3	1	49	1	0	0	0	0	1	0	0	0	9622	739	26	5	12012	5	MLL3	7	151927093	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	9268562	151927093	7211570	20	3061											
TLE4	7091	broad.mit.edu	37	9	82324566	82324566	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:82324566G>A	uc004ald.3	+	14	2216	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H	TLE4_uc004alc.3_Missense_Mutation_p.R431H|TLE4_uc010mpr.3_Missense_Mutation_p.R310H|TLE4_uc004ale.3_Missense_Mutation_p.R68H|TLE4_uc011lsq.2_Missense_Mutation_p.R399H|TLE4_uc010mps.3_Missense_Mutation_p.R355H|TLE4_uc004alf.3_Missense_Mutation_p.R370H	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATCACATGCGTGTGCCAGCA	0.438													A	82324566	G	A	82324566	3	1	49	1	0	0	0	0	1	0	0	0	15938	1145	40	1	1346	1	TLE4	9	82324566	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		82324566	58888865	21	3062											
ZNF618	114991	broad.mit.edu	37	9	116779034	116779034	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:116779034C>A	uc004bid.3	+	9	913	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	ZNF618_uc004bib.1_Missense_Mutation_p.Q240K|ZNF618_uc004bic.3_Missense_Mutation_p.Q260K|ZNF618_uc011lxi.2_Missense_Mutation_p.Q240K|ZNF618_uc011lxj.2_Missense_Mutation_p.Q240K	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACTCCCTACCAGGAGCATGT	0.572													A	116779034	C	A	116779034	3	1	49	1	0	0	0	0	1	0	0	0	18039	595	21	5	816	5	ZNF618	9	116779034	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	34454468	116779034	24434397	22	3063											
OR5P2	120065	broad.mit.edu	37	11	7818165	7818165	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:7818165C>T	uc001mfp.1	-	0	325	c.325G>A	c.(325-327)Gtc>Atc	p.V109I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V109I(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAGAAGGACGCATTCGACT	0.483													T	7818165	C	T	7818165	3	4	49	1	0	0	0	0	1	0	0	0	11178	536	19	1	647	1	OR5P2	11	7818165	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08		7818165	127188351	23	3064											
TMEM41B	440026	broad.mit.edu	37	11	9305021	9305021	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:9305021A>G	uc001mhm.3	-	6	1153	c.826T>C	c.(826-828)Tct>Cct	p.S276P	TMEM41B_uc001mhn.2_Missense_Mutation_p.S276P	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	276						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GGCAGAATAGAAAGAACAGCC	0.358													G	9305021	A	G	9305021	3	3	49	1	0	0	0	0	1	0	0	0	16162	246	9	4	53	4	TMEM41B	11	9305021	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08	1486856	9305021	125701495	24	3065											
CASP1	834	broad.mit.edu	37	11	104900443	104900443	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:104900443G>A	uc001pim.4	-	5	811	c.811C>T	c.(811-813)Cca>Tca	p.P271S	CASP1_uc001pig.3_Missense_Mutation_p.P178S|CASP1_uc021qpq.1_Missense_Mutation_p.P250S|CASP1_uc021qpr.1_Missense_Mutation_p.P178S|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Missense_Mutation_p.P271S|CASP1_uc021qpt.1_Missense_Mutation_p.P178S|CASP1_uc010rve.2_Missense_Mutation_p.P271S|CASP1_uc010rvf.2_Missense_Mutation_p.P178S|CASP1_uc010rvg.2_Missense_Mutation_p.P250S|CASP1_uc010rvh.2_Missense_Mutation_p.P178S|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Missense_Mutation_p.P250S|CASP1_uc021qpu.1_Missense_Mutation_p.P178S|CASP1_uc021qpv.1_Missense_Mutation_p.P250S|CASP1_uc021qpw.1_Missense_Mutation_p.P178S|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Missense_Mutation_p.P271S|CASP1_uc009yxj.3_Missense_Mutation_p.P116S|CASP1_uc010rvk.2_Missense_Mutation_p.P232S	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	271					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TTCAAACTTGGGCAGTTCTTG	0.448													A	104900443	G	A	104900443	3	1	49	1	0	0	0	0	1	0	0	0	2668	1232	43	3	419	3	CASP1	11	104900443	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	95595422	104900443	30106073	25	3066											
MARS	4141	broad.mit.edu	37	12	57910320	57910320	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57910320G>A	uc001sog.3	+	20	2813	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc001soh.1_3'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	887	WHEP-TRS.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GGCTGTAGCTGAGGGGAAACC	0.433													A	57910320	G	A	57910320	3	1	49	1	0	0	0	0	1	0	0	0	9316	1291	45	3	2741	3	MARS	12	57910320	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		57910320	75941575	26	3067											
DDIT3	1649	broad.mit.edu	37	12	57911096	57911096	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57911096C>A	uc009zpt.3	-	2	431	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	MARS_uc001sof.1_Non-coding_Transcript|DDIT3_uc001soi.3_Missense_Mutation_p.D32Y|DDIT3_uc021qzj.1_Missense_Mutation_p.D32Y|DDIT3_uc021qzk.1_Missense_Mutation_p.D55Y|DDIT3_uc021qzl.1_Missense_Mutation_p.D55Y|DDIT3_uc009zps.3_Missense_Mutation_p.D55Y	NM_001195053	NP_001181982	P35638	DDIT3_HUMAN	Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA.	32					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.D32Y(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CCATTTTCATCTGAAGACAGG	0.493			T	FUS	liposarcoma								A	57911096	C	A	57911096	3	1	49	1	0	0	0	0	1	0	0	0	4330	913	32	5	423	5	DDIT3	12	57911096	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	776	57911096	75940799	27	3068											
PIP4K2C	79837	broad.mit.edu	37	12	57994645	57994645	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57994645G>T	uc001sou.3	+	7	996	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PIP4K2C_uc001sot.3_Missense_Mutation_p.D289Y|PIP4K2C_uc010srs.2_Missense_Mutation_p.D271Y|PIP4K2C_uc010srt.2_Missense_Mutation_p.D241Y	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	289	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGCATCCACGACATCATTCG	0.552													T	57994645	G	T	57994645	3	4	49	1	0	0	0	0	1	0	0	0	11938	1058	37	5	895	5	PIP4K2C	12	57994645	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	83549	57994645	75857250	28	3069											
PIP4K2C	79837	broad.mit.edu	37	12	57994848	57994848	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57994848C>G	uc001sou.3	+	7	1199	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	PIP4K2C_uc001sot.3_Missense_Mutation_p.I356M|PIP4K2C_uc010srs.2_Missense_Mutation_p.I338M|PIP4K2C_uc010srt.2_Missense_Mutation_p.I308M	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	356	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTATGCCATCCGGAGTGCTG	0.562													G	57994848	C	G	57994848	3	3	49	1	0	0	0	0	1	0	0	0	11938	845	30	5	1098	5	PIP4K2C	12	57994848	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	203	57994848	75857047	29	3070											
TSPAN31	6302	broad.mit.edu	37	12	58140433	58140433	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:58140433G>A	uc001spt.3	+	3	528	c.374G>A	c.(373-375)aGa>aAa	p.R125K	TSPAN31_uc009zqb.3_Intron|TSPAN31_uc010ssa.2_Missense_Mutation_p.R47K	NM_005981	NP_005972	Q12999	TSN31_HUMAN	Homo sapiens tetraspanin 31 (TSPAN31), mRNA.	125					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GAACTGGAAAGAAGTTTTGAT	0.448													A	58140433	G	A	58140433	3	1	49	1	0	0	0	0	1	0	0	0	16643	942	33	3	388	3	TSPAN31	12	58140433	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	145585	58140433	75711462	30	3071											
TPTE2	93492	broad.mit.edu	37	13	20066995	20066995	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr13:20066995A>T	uc001umd.3	-	3	325	c.114T>A	c.(112-114)agT>agA	p.S38R	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.S38R|TPTE2_uc001ume.3_Missense_Mutation_p.S38R|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	38						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTCACCTTTTACTGATAGGTG	0.388													T	20066995	A	T	20066995	3	4	49	1	0	0	0	0	1	0	0	0	16428	388	14	5	1526	5	TPTE2	13	20066995	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		20066995	95102883	31	3072											
PCNX	22990	broad.mit.edu	37	14	71495452	71495452	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr14:71495452A>C	uc001xmo.2	+	15	3948	c.3502A>C	c.(3502-3504)Atc>Ctc	p.I1168L	PCNX_uc010are.1_Missense_Mutation_p.I1057L|PCNX_uc010arf.1_Missense_Mutation_p.I28L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1168						integral to membrane				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)		TTACAGTTTTATCTGTAGCAT	0.313													C	71495452	A	C	71495452	3	2	49	1	0	0	0	0	1	0	0	0	11591	449	16	5	3564	5	PCNX	14	71495452	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		71495452	35854088	32	3073											
TJP1	7082	broad.mit.edu	37	15	30003151	30003151	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr15:30003151T>C	uc001zcr.3	-	23	4731	c.4256A>G	c.(4255-4257)tAt>tGt	p.Y1419C	TJP1_uc010azl.3_Missense_Mutation_p.Y1407C|TJP1_uc001zcq.3_Missense_Mutation_p.Y1343C|TJP1_uc001zcs.3_Missense_Mutation_p.Y1339C	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1419					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GATGGGTTCATAGCGTTTCTC	0.512													C	30003151	T	C	30003151	3	2	49	1	0	0	0	0	1	0	0	0	15926	1406	49	4	1010	4	TJP1	15	30003151	Missense_Mutation	SNP	T	TCGA-06-0238-01A-02D-1492-08		30003151	72528241	33	3074											
ARNT2	9915	broad.mit.edu	37	15	80883952	80883952	+	Silent	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr15:80883952G>A	uc002bfr.3	+	17	2128	c.1962G>A	c.(1960-1962)tcG>tcA	p.S654S	ARNT2_uc010unm.2_Silent_p.S643S|ARNT2_uc002bfs.3_Silent_p.S643S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	654					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGCGGCCCTCGGAAGTCTGGT	0.567													A	80883952	G	A	80883952	2	1	49	1	0	0	0	0	0	0	0	1	966	1103	39	2		2	ARNT2	15	80883952	Silent	SNP	G	TCGA-06-0238-01A-02D-1492-08	50880801	80883952	21647440	34	3075											
RSL1D1	26156	broad.mit.edu	37	16	11931690	11931690	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr16:11931690G>T	uc002dbp.1	-	8	1500	c.1427C>A	c.(1426-1428)aCc>aAc	p.T476N	RSL1D1_uc010buv.1_Missense_Mutation_p.T475N|RSL1D1_uc010uyw.1_Missense_Mutation_p.T256N	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	476					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTTTGGGGGTGTGGGAAGC	0.468													T	11931690	G	T	11931690	3	4	49	1	0	0	0	0	1	0	0	0	13700	1261	44	5	49	5	RSL1D1	16	11931690	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		11931690	78423063	35	3076											
SMG1	23049	broad.mit.edu	37	16	18875133	18875133	+	Silent	SNP	A	A	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr16:18875133A>T	uc002dfm.3	-	24	3897	c.3534T>A	c.(3532-3534)tcT>tcA	p.S1178S	SMG1_uc010bwb.3_Silent_p.S1038S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1178	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTCAGGGGAAGAGTCAGTCG	0.388													T	18875133	A	T	18875133	2	4	49	1	0	0	0	0	0	0	0	1	14795	59	3	5		5	SMG1	16	18875133	Silent	SNP	A	TCGA-06-0238-01A-02D-1492-08	6943443	18875133	71479620	36	3077											
TP53	7157	broad.mit.edu	37	17	7577558	7577566	+	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-	rs28934573		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr17:7577558_7577566delGGAACTGTT	uc002gim.2	-	6	909_917	c.715_723delAACAGTTCC	c.(715-723)aacagttccdel	p.NSS239del	TP53_uc002gig.1_In_Frame_Del_p.NSS239del|TP53_uc002gih.3_In_Frame_Del_p.NSS239del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.NSS107del|TP53_uc010cnf.1_In_Frame_Del_p.NSS107del|TP53_uc002gii.1_In_Frame_Del_p.NSS107del|TP53_uc010cni.1_In_Frame_Del_p.NSS239del|TP53_uc010cnh.1_In_Frame_Del_p.NSS239del|TP53_uc002gij.2_In_Frame_Del_p.NSS239del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.NSS146del|TP53_uc002gio.2_In_Frame_Del_p.NSS107del|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.S241F(163)|p.N239D(66)|p.C238Y(57)|p.N239S(50)|p.S241C(50)|p.C238F(36)|p.S240G(28)|p.N239fs*25(27)|p.C238S(19)|p.S241fs*6(18)|p.S241A(17)|p.S240R(17)|p.S241Y(16)|p.C242fs*5(15)|p.N239K(14)|p.C238R(14)|p.S241T(14)|p.N239Y(12)|p.S240I(12)|p.S241del(10)|p.N239fs*1(8)|p.N239T(8)|p.0?(8)|p.N239_C242delNSSC(6)|p.M237_N239delMCN(6)|p.S240C(6)|p.S241S(6)|p.S241P(6)|p.?(5)|p.N239_S240insX(4)|p.S148F(4)|p.N239fs*8(4)|p.S240S(4)|p.S240T(4)|p.S240fs*7(4)|p.C238*(4)|p.N239_S240delNS(4)|p.S241fs*22(4)|p.N146S(3)|p.N239fs*26(2)|p.Y236_M243delYMCNSSCM(2)|p.N239fs*6(2)|p.N239fs*4(2)|p.S240>CSC(2)|p.C238_M246delCNSSCMGGM(2)|p.S240P(2)|p.S241_C242insX(2)|p.S240fs*23(2)|p.C238del(2)|p.C238G(2)|p.C238fs*21(2)|p.C238W(2)|p.N239I(2)|p.N239N(2)|p.S241fs*7(2)|p.S240fs*26(2)|p.N239*(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.S241fs*23(2)|p.S241_G245delSCMGG(2)|p.N239_S240insN(2)|p.C238_N239insX(2)|p.N239_C242del(2)|p.S148T(1)|p.C238fs*2(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.V225fs*23(1)|p.S148C(1)|p.N239fs*?(1)|p.C238fs*9(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.N239fs*>48(1)|p.H233fs*6(1)|p.N146fs*>10(1)|p.N146fs*1(1)|p.M237_C238insX(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)		CGCCCATGCAGGAACTGTTACACATGTAG	0.574		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)			-	7577566	GGAACTGTT	-	7577558	7	5	49	1	0	1	0	1	0	0	0	0	16378	987	35	0	567	0	TP53	17	7577558	In_Frame_Del	DEL	GGAACTGTT	TCGA-06-0238-01A-02D-1492-08		7577558	73617652	37	3078											
ZNF317	57693	broad.mit.edu	37	19	9271619	9271619	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:9271619T>A	uc002mku.3	+	6	1603	c.1298T>A	c.(1297-1299)cTt>cAt	p.L433H	ZNF317_uc002mkv.3_Missense_Mutation_p.L292H|ZNF317_uc002mkw.3_Missense_Mutation_p.L401H|ZNF317_uc002mkx.3_Missense_Mutation_p.L348H|ZNF317_uc002mky.3_Missense_Mutation_p.L316H	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CAGTCCATCCTTAAGACTCAC	0.537													A	9271619	T	A	9271619	3	1	49	1	0	0	0	0	1	0	0	0	17832	1609	56	5	1320	5	ZNF317	19	9271619	Missense_Mutation	SNP	T	TCGA-06-0238-01A-02D-1492-08		9271619	49857364	38	3079											
NOTCH3	4854	broad.mit.edu	37	19	15298114	15298114	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:15298114C>T	uc002nan.3	-	10	1718	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N	NOTCH3_uc002nao.1_Missense_Mutation_p.D548N	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	548	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			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)			GGGGAGCAGTCGTCCACGTTG	0.657													T	15298114	C	T	15298114	3	4	49	1	0	0	0	0	1	0	0	0	10550	884	31	2	5415	2	NOTCH3	19	15298114	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	6026495	15298114	43830869	39	3080											
FCGBP	8857	broad.mit.edu	37	19	40419695	40419695	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:40419695C>T	uc002omp.4	-	5	3307	c.3299G>A	c.(3298-3300)gGc>gAc	p.G1100D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1100						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCAGACTGGCCTGGCAGCAG	0.647													T	40419695	C	T	40419695	3	4	49	1	0	0	0	0	1	0	0	0	5778	739	26	3	13042	3	FCGBP	19	40419695	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	25121581	40419695	18709288	40	3081											
NLRP2	55655	broad.mit.edu	37	19	55494507	55494507	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:55494507C>T	uc021vbq.1	+	5	1552	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C	NLRP2_uc010yfp.2_Missense_Mutation_p.R458C|NLRP2_uc002qij.3_Missense_Mutation_p.R481C|NLRP2_uc010esp.3_Missense_Mutation_p.R459C|NLRP2_uc010esn.3_Missense_Mutation_p.R457C|NLRP2_uc010eso.3_Missense_Mutation_p.R478C	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	481	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTCCGACCTCCGTCTGTTCCT	0.632													T	55494507	C	T	55494507	3	4	49	1	0	0	0	0	1	0	0	0	10477	652	23	2	1459	2	NLRP2	19	55494507	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	15074812	55494507	3634476	41	3082											
GGT1	2678	broad.mit.edu	37	22	25023517	25023517	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr22:25023517G>A	uc003aan.1	+	11	1626	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D	GGT1_uc003aas.1_Missense_Mutation_p.G380D|GGT1_uc003aat.1_Missense_Mutation_p.G380D|GGT1_uc003aau.2_Missense_Mutation_p.G380D|GGT1_uc003aav.2_Missense_Mutation_p.G380D|GGT1_uc003aaw.2_Missense_Mutation_p.G380D|GGT1_uc003aax.2_Missense_Mutation_p.G380D|GGT1_uc003aay.1_Missense_Mutation_p.G36D	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	380					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GATGACGGGGGCACTGCTCAC	0.632													A	25023517	G	A	25023517	3	1	49	1	0	0	0	0	1	0	0	0	6361	1203	42	3	1169	3	GGT1	22	25023517	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		25023517	26281049	42	3083											
MAP3K15	389840	broad.mit.edu	37	X	19431486	19431486	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chrX:19431486G>T	uc022btq.1	-	10	1687	c.1687C>A	c.(1687-1689)Ccc>Acc	p.P563T	MAP3K15_uc004czj.2_5'UTR|MAP3K15_uc004czk.2_Missense_Mutation_p.T5N	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	563							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATTTCTGTGGGTGAGACATGC	0.398													T	19431486	G	T	19431486	3	4	49	1	0	0	0	0	1	0	0	0	9249	1261	44	5	2330	5	MAP3K15	23	19431486	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		19431486	135839074	43	3084											
CCDC37	348807	broad.mit.edu	37	3	126133023	126133023	+	Splice_Site	SNP	G	G	A	rs150312379	byFrequency	TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr3:126133023G>A	uc010hsg.1	+	3	284	c.225_splice	c.e3+1	p.S75_splice	CCDC37_uc003eiu.1_Splice_Site_p.S75_splice	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	75										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGCTCTCTCCGTGAGTATCCA	0.557													A	126133023	G	A	126133023	5	1	50	1	0	0	0	0	0	0	1	0	2809	1159	40	1	236	1	CCDC37	3	126133023	Splice_Site	SNP	G	TCGA-06-0240-01A-03D-1491-08		126133023	71889407	1	3085											
PCDHAC2	56147	broad.mit.edu	37	5	140167216	140167216	+	Silent	SNP	C	C	T			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr5:140167216C>T	uc003lhb.2	+	0	1341	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D	PCDHAC2_uc003lha.2_Silent_p.D447D|PCDHAC2_uc003lgz.3_Silent_p.D447D	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	461	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I446M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGCCGACGTGAATGACA	0.667													T	140167216	C	T	140167216	2	4	50	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHAC2	5	140167216	Silent	SNP	C	TCGA-06-0240-01A-03D-1491-08		140167216	40748044	2	3086											
PPARGC1B	133522	broad.mit.edu	37	5	149210432	149210432	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr5:149210432C>T	uc003lrc.3	+	3	659	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	PPARGC1B_uc003lrb.2_Missense_Mutation_p.R190W|PPARGC1B_uc003lrd.3_Intron|PPARGC1B_uc021yfr.1_Intron|PPARGC1B_uc003lre.1_Missense_Mutation_p.R169W|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R169W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	190					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TAAAAGTCAACGGCCTTGTGT	0.562													T	149210432	C	T	149210432	3	4	50	1	0	0	0	0	1	0	0	0	12301	527	19	1	589	1	PPARGC1B	5	149210432	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08	9043216	149210432	31704828	3	3087											
TDRD6	221400	broad.mit.edu	37	6	46658843	46658843	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr6:46658843C>T	uc003oyj.3	+	0	3232	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	TDRD6_uc010jze.3_Missense_Mutation_p.T993M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	993					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTTTATATAACGCATATTGAT	0.333													T	46658843	C	T	46658843	3	4	50	1	0	0	0	0	1	0	0	0	15731	536	19	1	2980	1	TDRD6	6	46658843	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08		46658843	124456224	4	3088											
RAMP3	10268	broad.mit.edu	37	7	45222997	45222997	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr7:45222997G>A	uc003tnb.3	+	2	494	c.433G>A	c.(433-435)Gac>Aac	p.D145N		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	145					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	p.D145N(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CAAACGCACCGACACGCTGCT	0.627													A	45222997	G	A	45222997	3	1	50	1	0	0	0	0	1	0	0	0	13023	1058	37	2	443	2	RAMP3	7	45222997	Missense_Mutation	SNP	G	TCGA-06-0240-01A-03D-1491-08		45222997	113915666	5	3089											
TLR4	7099	broad.mit.edu	37	9	120466768	120466768	+	Silent	SNP	C	C	G			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr9:120466768C>G	uc004bjz.3	+	0	309	c.18C>G	c.(16-18)cgC>cgG	p.R6R	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	6					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			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						CTGCCTCGCGCCTGGCTGGGA	0.602													G	120466768	C	G	120466768	2	3	50	1	0	0	0	0	0	0	0	1	15950	726	26	5		5	TLR4	9	120466768	Silent	SNP	C	TCGA-06-0240-01A-03D-1491-08		120466768	20746663	6	3090											
MS4A8B	83661	broad.mit.edu	37	11	60470906	60470906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr11:60470906C>T	uc001npv.3	+	2	478	c.275C>T	c.(274-276)aCg>aTg	p.T92M	MS4A8B_uc009yne.1_Missense_Mutation_p.T92M	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	92						integral to membrane	receptor activity	p.A91A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATCATGGCGACGGTTCTCGTA	0.552													T	60470906	C	T	60470906	3	4	50	1	0	0	0	0	1	0	0	0	9867	536	19	1	281	1	MS4A8B	11	60470906	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08		60470906	74535610	7	3091											
RYR3	6263	broad.mit.edu	37	15	34105755	34105755	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr15:34105755A>G	uc001zhi.3	+	73	10547	c.10477A>G	c.(10477-10479)Atg>Gtg	p.M3493V	RYR3_uc010bar.3_Missense_Mutation_p.M3488V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3493					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)		CTGTTTCAGGATGGCCCCTCT	0.527													G	34105755	A	G	34105755	3	3	50	1	0	0	0	0	1	0	0	0	13770	333	12	4	10771	4	RYR3	15	34105755	Missense_Mutation	SNP	A	TCGA-06-0240-01A-03D-1491-08		34105755	68425637	8	3092											
THBS1	7057	broad.mit.edu	37	15	39874573	39874573	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr15:39874573C>T	uc001zkh.3	+	2	426	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	83	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGATGCTGTGCGGGCAGAAAA	0.617													T	39874573	C	T	39874573	3	4	50	1	0	0	0	0	1	0	0	0	15850	759	27	1	253	1	THBS1	15	39874573	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08	5768818	39874573	62656819	9	3093											
PAQR5	54852	broad.mit.edu	37	15	69652448	69652448	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr15:69652448T>C	uc002arz.2	+	2	407	c.29T>C	c.(28-30)tTt>tCt	p.F10S	PAQR5_uc002asa.2_Missense_Mutation_p.F10S	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA.	10					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCCAGGCTGTTTAGCATAGAC	0.542													C	69652448	T	C	69652448	3	2	50	1	0	0	0	0	1	0	0	0	11438	1841	64	4	31	4	PAQR5	15	69652448	Missense_Mutation	SNP	T	TCGA-06-0240-01A-03D-1491-08	29777875	69652448	32878944	10	3094											
CLEC3A	10143	broad.mit.edu	37	16	78064695	78064695	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr16:78064695G>A	uc002ffh.4	+	2	632	c.551G>A	c.(550-552)cGc>cAc	p.R184H	CLEC3A_uc021tlr.1_Missense_Mutation_p.R132H	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	184	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.C183R(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAGGCCTGTCGCAGCAGCAAG	0.493													A	78064695	G	A	78064695	3	1	50	1	0	0	0	0	1	0	0	0	3510	1087	38	1	561	1	CLEC3A	16	78064695	Missense_Mutation	SNP	G	TCGA-06-0240-01A-03D-1491-08		78064695	12290058	11	3095											
HOXB5	3215	broad.mit.edu	37	17	46670992	46670992	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr17:46670992T>C	uc002inr.3	-	0	112	c.53A>G	c.(52-54)gAc>gGc	p.D18G	HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB-AS3_uc021tzk.1_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	18						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						CAACTGATAGTCCGGGCCATT	0.507													C	46670992	T	C	46670992	3	2	50	1	0	0	0	0	1	0	0	0	7304	1667	58	4	764	4	HOXB5	17	46670992	Missense_Mutation	SNP	T	TCGA-06-0240-01A-03D-1491-08		46670992	34524218	12	3096											
FUT3	2525	broad.mit.edu	37	19	5844280	5844280	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr19:5844280C>T	uc002mdk.2	-	1	668	c.571G>A	c.(571-573)Gag>Aag	p.E191K	FUT3_uc002mdm.2_Missense_Mutation_p.E191K|FUT3_uc002mdj.2_Missense_Mutation_p.E191K|FUT3_uc002mdl.2_Missense_Mutation_p.E191K|FUT3_uc021unn.1_Missense_Mutation_p.E191K	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	191					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCCACCAGCTCGGTCTTGGCC	0.667													T	5844280	C	T	5844280	3	4	50	1	0	0	0	0	1	0	0	0	6105	893	31	2	518	2	FUT3	19	5844280	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08		5844280	53284703	13	3097											
MUC16	94025	broad.mit.edu	37	19	9003616	9003616	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr19:9003616G>A	uc002mkp.3	-	48	40228	c.40024C>T	c.(40024-40026)Cgc>Tgc	p.R13342C	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R159C|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13344	SEA 9.				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						GAGCCAGGGCGACGCATGTCC	0.552													A	9003616	G	A	9003616	3	1	50	1	0	0	0	0	1	0	0	0	9973	1058	37	2	3643	2	MUC16	19	9003616	Missense_Mutation	SNP	G	TCGA-06-0240-01A-03D-1491-08	3159336	9003616	50125367	14	3098											
MEGF6	1953	broad.mit.edu	37	1	3407152	3407152	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:3407152C>T	uc001akl.3	-	37	4792	c.4565_splice	c.e37-1	p.A1522_splice	MEGF6_uc001akk.3_Splice_Site_p.A1210_splice	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1522						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGTGTGCCCGCTGGGGAAA	0.672													T	3407152	C	T	3407152	2	4	51	1	0	0	0	0	0	0	0	1	9462	666	23	2		2	MEGF6	1	3407152	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		3407152	245843469	1	3099											
PER3	8863	broad.mit.edu	37	1	7845640	7845640	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:7845640G>A	uc001aop.3	+	1	492	c.268G>A	c.(268-270)Gtt>Att	p.V90I	PER3_uc009vmg.1_Missense_Mutation_p.V90I|PER3_uc009vmh.1_Missense_Mutation_p.V90I|PER3_uc001aoo.3_Missense_Mutation_p.V90I|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.V90I	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCACAGCGTTCAAGGTAA	0.483													A	7845640	G	A	7845640	3	1	51	1	0	0	0	0	1	0	0	0	11731	1145	40	1	274	1	PER3	1	7845640	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	4438488	7845640	241404981	2	3100											
SLC2A7	155184	broad.mit.edu	37	1	9064868	9064868	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:9064868G>A	uc009vmo.1	-	10	1263	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	421						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.D421D(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCACTGCCCCGTCCACCATGA	0.652													A	9064868	G	A	9064868	2	1	51	1	0	0	0	0	0	0	0	1	14550	1136	40	1		1	SLC2A7	1	9064868	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	1219228	9064868	240185753	3	3101											
CSF3R	1441	broad.mit.edu	37	1	36932400	36932400	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:36932400G>A	uc001caw.2	-	16	2653	c.2069C>T	c.(2068-2070)aCg>aTg	p.T690M	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cav.2_Missense_Mutation_p.T690M|CSF3R_uc001cax.2_Missense_Mutation_p.T717M	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	690					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	p.T717M(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GATGGGTGGCGTGCCAAGGCC	0.612													A	36932400	G	A	36932400	3	1	51	1	0	0	0	0	1	0	0	0	3937	1145	40	1	554	1	CSF3R	1	36932400	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	27867532	36932400	212318221	4	3102											
DNALI1	7802	broad.mit.edu	37	1	38027710	38027710	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:38027710A>G	uc001cbj.3	+	4	681	c.671A>G	c.(670-672)gAc>gGc	p.D224G	DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	202					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAAAGAGAGACCTGGAGAGG	0.557											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	38027710	A	G	38027710	3	3	51	1	0	0	0	0	1	0	0	0	4659	275	10	4	689	4	DNALI1	1	38027710	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	1095310	38027710	211222911	5	3103											
FAM46C	54855	broad.mit.edu	37	1	118165644	118165644	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:118165644G>A	uc021osq.1	+	0	154	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	FAM46C_uc001ehe.3_Missense_Mutation_p.V52I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	52								p.V52I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GAAGGACATCGTCCAGACCGT	0.567			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			A	118165644	G	A	118165644	3	1	51	1	0	0	0	0	1	0	0	0	5567	1145	40	1	156	1	FAM46C	1	118165644	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	80137934	118165644	131084977	6	3104											
ZNF697	90874	broad.mit.edu	37	1	120165750	120165750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:120165750C>A	uc001ehy.1	-	2	1330	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TAGGGCTTCTCGCCCGTGTGC	0.672													A	120165750	C	A	120165750	4	1	51	1	0	0	0	0	0	1	0	0	18097	893	31	5	425	5	ZNF697	1	120165750	Nonsense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	2000106	120165750	129084871	7	3105											
AQP10	89872	broad.mit.edu	37	1	154294529	154294529	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:154294529G>A	uc001feu.3	+	1	266	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	76					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGTGGTAACGTCTCAGGTGA	0.547													A	154294529	G	A	154294529	3	1	51	1	0	0	0	0	1	0	0	0	822	1145	40	1	232	1	AQP10	1	154294529	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	34128779	154294529	94956092	8	3106											
TMEM79	84283	broad.mit.edu	37	1	156255048	156255048	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:156255048G>A	uc010phi.2	+	1	227	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_5'UTR|TMEM79_uc009wrw.3_Missense_Mutation_p.E11K	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	11						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GGCCCTACTGGAAGTGAAGAG	0.597													A	156255048	G	A	156255048	3	1	51	1	0	0	0	0	1	0	0	0	16200	1175	41	3	33	3	TMEM79	1	156255048	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	1960519	156255048	92995573	9	3107											
CD207	50489	broad.mit.edu	37	2	71060827	71060827	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:71060827C>T	uc002shg.3	-	2	562	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	172					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGGAGTGCCCGGATCTTTGT	0.428													T	71060827	C	T	71060827	3	4	51	1	0	0	0	0	1	0	0	0	2983	652	23	2	487	2	CD207	2	71060827	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		71060827	172138546	10	3108											
TBC1D8	11138	broad.mit.edu	37	2	101655055	101655055	+	Silent	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:101655055G>T	uc010fiv.3	-	6	1229	c.1098C>A	c.(1096-1098)atC>atA	p.I366I	TBC1D8_uc010yvw.2_Silent_p.I381I|TBC1D8_uc002tau.4_Silent_p.I123I	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	366					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCTTGCTTCTGATACTGACAA	0.612													T	101655055	G	T	101655055	2	4	51	1	0	0	0	0	0	0	0	1	15622	1280	45	5		5	TBC1D8	2	101655055	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	30594228	101655055	141544318	11	3109											
LRP1B	53353	broad.mit.edu	37	2	141597647	141597647	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:141597647A>T	uc002tvj.1	-	30	6094	c.5122T>A	c.(5122-5124)Tac>Aac	p.Y1708N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1708					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TCGGTCCAGTAGAGTTTTCTT	0.318										TSP Lung(27;0.18)			T	141597647	A	T	141597647	3	4	51	1	0	0	0	0	1	0	0	0	8955	420	15	5	8921	5	LRP1B	2	141597647	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	39942592	141597647	101601726	12	3110											
ARL8B	55207	broad.mit.edu	37	3	5214343	5214343	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:5214343A>G	uc003bqg.3	+	3	511	c.290A>G	c.(289-291)gAt>gGt	p.D97G	ARL8B_uc011asx.2_Missense_Mutation_p.D88G|ARL8B_uc011asy.2_Missense_Mutation_p.D97G	NM_018184	NP_060654	Q9NVJ2	ARL8B_HUMAN	Homo sapiens ADP-ribosylation factor-like 8B (ARL8B), mRNA.	97					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		TACATGATAGATGCTGCAGAT	0.323													G	5214343	A	G	5214343	3	3	51	1	0	0	0	0	1	0	0	0	947	333	12	4	304	4	ARL8B	3	5214343	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08		5214343	192808087	13	3111											
ITGA9	3680	broad.mit.edu	37	3	37547525	37547525	+	Silent	SNP	G	G	A	rs145062473		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:37547525G>A	uc003chd.3	+	6	830	c.777G>A	c.(775-777)ccG>ccA	p.P259P	ITGA9_uc003chc.3_Silent_p.P259P	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	259					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P259P(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCTCTCACCCGTCCACCATTG	0.537													A	37547525	G	A	37547525	2	1	51	1	0	0	0	0	0	0	0	1	7883	1132	40	1		1	ITGA9	3	37547525	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	32333182	37547525	160474905	14	3112											
CELSR3	1951	broad.mit.edu	37	3	48679336	48679336	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:48679336T>G	uc003cuf.1	-	33	9066	c.9066A>C	c.(9064-9066)caA>caC	p.Q3022H	CELSR3_uc010hkf.3_Missense_Mutation_p.Q214H|CELSR3_uc010hkg.3_Missense_Mutation_p.Q907H|CELSR3_uc003cul.3_Missense_Mutation_p.Q2924H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2924					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGAGTGGCCGTTGGAAGCGCC	0.622													G	48679336	T	G	48679336	3	3	51	1	0	0	0	0	1	0	0	0	3223	1722	60	5	1182	5	CELSR3	3	48679336	Missense_Mutation	SNP	T	TCGA-06-0241-01A-02D-1491-08	11131811	48679336	149343094	15	3113											
MAGI1	9223	broad.mit.edu	37	3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:65376868G>T	uc003dmn.3	-	13	2891	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_uc003dmm.3_Missense_Mutation_p.P789T|MAGI1_uc003dmo.3_Missense_Mutation_p.P789T|MAGI1_uc003dmp.3_Missense_Mutation_p.P789T|MAGI1_uc010hnx.1_Missense_Mutation_p.P72T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	789					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P789T(3)		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)		AAAGGATCTGGTTTTTTCTGG	0.567													T	65376868	G	T	65376868	3	4	51	1	0	0	0	0	1	0	0	0	9190	1261	44	5	2297	5	MAGI1	3	65376868	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	16697532	65376868	132645562	16	3114											
HSPBAP1	79663	broad.mit.edu	37	3	122459902	122459902	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:122459902A>G	uc003efu.2	-	6	1023	c.884T>C	c.(883-885)cTg>cCg	p.L295P	HSPBAP1_uc003eft.2_Missense_Mutation_p.L6P	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	295						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TGCAGTTTTCAGGGCACACAC	0.458													G	122459902	A	G	122459902	3	3	51	1	0	0	0	0	1	0	0	0	7425	188	7	4	590	4	HSPBAP1	3	122459902	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	57083034	122459902	75562528	17	3115											
YEATS2	55689	broad.mit.edu	37	3	183454552	183454552	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:183454552G>A	uc003fly.2	+	7	1054	c.859G>A	c.(859-861)Gtc>Atc	p.V287I		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	287	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.P286P(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGTTTCCCGTCAGAGTTCA	0.418													A	183454552	G	A	183454552	3	1	51	1	0	0	0	0	1	0	0	0	17469	1145	40	1	885	1	YEATS2	3	183454552	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	60994650	183454552	14567878	18	3116											
PDGFRA	5156	broad.mit.edu	37	4	55133562	55133562	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:55133562A>G	uc003han.4	+	5	1197	c.866A>G	c.(865-867)gAa>gGa	p.E289G	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E183G|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	289	Ig-like C2-type 3.				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.E289K(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)	GGAGATTACGAATGTGCTGCC	0.468			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			G	55133562	A	G	55133562	3	3	51	1	0	0	0	0	1	0	0	0	11661	246	9	4	884	4	PDGFRA	4	55133562	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08		55133562	136020714	19	3117											
KDR	3791	broad.mit.edu	37	4	55955634	55955634	+	Missense_Mutation	SNP	G	G	A	rs138424770		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:55955634G>A	uc003has.3	-	24	3613	c.3311C>T	c.(3310-3312)tCt>tTt	p.S1104F	KDR_uc003hat.1_Missense_Mutation_p.S1104F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1104	Protein kinase.				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			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)	AGGATATGGAGAAGCACCTAG	0.393			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55955634	G	A	55955634	3	1	51	1	0	0	0	0	1	0	0	0	8139	942	33	3	783	3	KDR	4	55955634	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	822072	55955634	135198642	20	3118											
KIAA1109	84162	broad.mit.edu	37	4	123107257	123107257	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:123107257C>T	uc003ieh.3	+	4	470	c.425C>T	c.(424-426)tCg>tTg	p.S142L	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	142					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATAATCGCTCGGATCTTTAT	0.358													T	123107257	C	T	123107257	3	4	51	1	0	0	0	0	1	0	0	0	8208	893	31	2	443	2	KIAA1109	4	123107257	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	67151623	123107257	68047019	21	3119											
ANKRD50	57182	broad.mit.edu	37	4	125593092	125593092	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:125593092A>G	uc010inw.3	-	3	2378	c.1340T>C	c.(1339-1341)tTa>tCa	p.L447S	ANKRD50_uc011cgo.2_Missense_Mutation_p.L268S	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	447										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAATGGTGTTAAATTCTTGGC	0.388													G	125593092	A	G	125593092	3	3	51	1	0	0	0	0	1	0	0	0	677	372	13	4	2953	4	ANKRD50	4	125593092	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	2485835	125593092	65561184	22	3120											
SH3D19	152503	broad.mit.edu	37	4	152096196	152096196	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:152096196G>C	uc010ipl.1	-	6	1410	c.320C>G	c.(319-321)cCa>cGa	p.P107R	SH3D19_uc003imc.2_Missense_Mutation_p.P107R|SH3D19_uc003ime.2_Missense_Mutation_p.P107R|SH3D19_uc010ipm.2_Missense_Mutation_p.P107R	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	107	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCAGGGTTTGGTTTCTTTGG	0.537													C	152096196	G	C	152096196	3	2	51	1	0	0	0	0	1	0	0	0	14249	1348	47	5	2112	5	SH3D19	4	152096196	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	26503104	152096196	39058080	23	3121											
PCDHAC2	56146	broad.mit.edu	37	5	140176220	140176220	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:140176220C>T	uc003lhd.2	+	0	1777	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.D557D|PCDHAC2_uc011czy.2_Silent_p.D557D	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	571	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687													T	140176220	C	T	140176220	2	4	51	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHAC2	5	140176220	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		140176220	40739040	24	3122											
RBM27	54439	broad.mit.edu	37	5	145598558	145598558	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:145598558G>A	uc003lnz.4	+	1	236	c.70G>A	c.(70-72)Gat>Aat	p.D24N	RBM27_uc003lny.2_Missense_Mutation_p.D24N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	24					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTGATGCTGATCCTTCAGC	0.333													A	145598558	G	A	145598558	3	1	51	1	0	0	0	0	1	0	0	0	13127	1290	45	3	76	3	RBM27	5	145598558	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	5422338	145598558	35316702	25	3123											
NDST1	3340	broad.mit.edu	37	5	149922522	149922522	+	Silent	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:149922522A>G	uc003lsk.4	+	9	2461	c.1959A>G	c.(1957-1959)aaA>aaG	p.K653K	NDST1_uc011dcj.2_Silent_p.K653K	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	653	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTATCACAAAGGCATCGACT	0.567													G	149922522	A	G	149922522	2	3	51	1	0	0	0	0	0	0	0	1	10255	69	3	4		4	NDST1	5	149922522	Silent	SNP	A	TCGA-06-0241-01A-02D-1491-08	4323964	149922522	30992738	26	3124											
POU5F1	5460	broad.mit.edu	37	6	31133413	31133413	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:31133413A>G	uc003nsv.3	-	2	646	c.592T>C	c.(592-594)Tgt>Cgt	p.C198R	POU5F1_uc003nsu.3_Missense_Mutation_p.C27R|POU5F1_uc021yuj.1_Missense_Mutation_p.C27R|POU5F1_uc011dnf.1_5'Flank	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.	198	POU-specific.				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						CGCAGCTTACACATGTTCTTG	0.547			T	EWSR1	sarcoma								G	31133413	A	G	31133413	3	3	51	1	0	0	0	0	1	0	0	0	12281	159	6	4	502	4	POU5F1	6	31133413	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08		31133413	139981654	27	3125											
NEU1	4758	broad.mit.edu	37	6	31829050	31829050	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:31829050T>C	uc003nxq.4	-	2	686	c.530A>G	c.(529-531)gAt>gGt	p.D177G		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	177						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GGAAACACCATCATCCTTGCT	0.532													C	31829050	T	C	31829050	3	2	51	1	0	0	0	0	1	0	0	0	10341	1435	50	4	733	4	NEU1	6	31829050	Missense_Mutation	SNP	T	TCGA-06-0241-01A-02D-1491-08	695637	31829050	139286017	28	3126											
HIVEP2	3097	broad.mit.edu	37	6	143074691	143074691	+	Silent	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:143074691A>G	uc003qjd.3	-	9	7637	c.6894T>C	c.(6892-6894)acT>acC	p.T2298T		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGAGGAGGGAGTGCTAGGTG	0.527													G	143074691	A	G	143074691	2	3	51	1	0	0	0	0	0	0	0	1	7187	291	11	4		4	HIVEP2	6	143074691	Silent	SNP	A	TCGA-06-0241-01A-02D-1491-08	111245641	143074691	28040376	29	3127											
T	6862	broad.mit.edu	37	6	166571992	166571992	+	Silent	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:166571992G>T	uc003qut.1	-	7	1408	c.1122C>A	c.(1120-1122)gcC>gcA	p.A374A	T_uc003quu.1_Silent_p.A373A|T_uc003quv.1_Silent_p.A315A	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	373					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAAGAACTGGGCCCCCAGCC	0.692									Chordoma, Familial Clustering of				T	166571992	G	T	166571992	2	4	51	1	0	0	0	0	0	0	0	1	15485	1219	43	5		5	T	6	166571992	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	23497301	166571992	4543075	30	3128											
MAGI2	9863	broad.mit.edu	37	7	77973153	77973153	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:77973153C>T	uc003ugx.3	-	8	1604	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	MAGI2_uc003ugy.3_Silent_p.L450L|MAGI2_uc010ldx.1_Silent_p.L59L|MAGI2_uc010ldy.1_Silent_p.L59L|MAGI2_uc011kgr.1_Silent_p.L282L|MAGI2_uc011kgs.1_Silent_p.L287L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	450	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTCACCTGCAGAAACTCAT	0.453													T	77973153	C	T	77973153	2	4	51	1	0	0	0	0	0	0	0	1	9191	697	25	3		3	MAGI2	7	77973153	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		77973153	81165510	31	3129											
DNAJC2	27000	broad.mit.edu	37	7	102953526	102953526	+	Silent	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:102953526A>G	uc003vbo.3	-	15	1910	c.1659T>C	c.(1657-1659)ccT>ccC	p.P553P	PMPCB_uc003vbl.3_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_Silent_p.P178P|DNAJC2_uc010lix.3_Silent_p.P500P|DNAJC2_uc003vbp.3_Silent_p.P178P	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	553	SANT 2.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTGTTGTCCAAGGGGTGAAGT	0.393													G	102953526	A	G	102953526	2	3	51	1	0	0	0	0	0	0	0	1	4639	59	3	4		4	DNAJC2	7	102953526	Silent	SNP	A	TCGA-06-0241-01A-02D-1491-08	24980373	102953526	56185137	32	3130											
RELN	5649	broad.mit.edu	37	7	103281043	103281043	+	Silent	SNP	C	C	T	rs146749232		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:103281043C>T	uc022ajr.1	-	16	2176	c.2016G>A	c.(2014-2016)ccG>ccA	p.P672P	RELN_uc022ajq.1_Silent_p.P672P|RELN_uc010liz.3_Silent_p.P672P	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	672	EGF-like 1.				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			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)		TGAGACATGACGGGCCAATAT	0.368													T	103281043	C	T	103281043	2	4	51	1	0	0	0	0	0	0	0	1	13220	523	19	1		1	RELN	7	103281043	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	327517	103281043	55857620	33	3131											
CNOT4	4850	broad.mit.edu	37	7	135047676	135047676	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:135047676delG	uc011kpy.2	-	11	2434	c.2103delC	c.(2101-2103)cccfs	p.P701fs	CNOT4_uc011kpz.2_Frame_Shift_Del_p.P698fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.P630fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.P627fs	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	370					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTAAATCTGTGGGGGTTTTGC	0.527													-	135047676	G	-	135047676	7	5	51	1	0	1	0	1	0	0	0	0	3621	1335	47	0	42	0	CNOT4	7	135047676	Frame_Shift_Del	DEL	G	TCGA-06-0241-01A-02D-1491-08	31766633	135047676	24090987	34	3132	3	2									
CNOT4	4850	broad.mit.edu	37	7	135047681	135047681	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:135047681delT	uc011kpy.2	-	11	2429	c.2098delA	c.(2098-2100)accfs	p.T700fs	CNOT4_uc011kpz.2_Frame_Shift_Del_p.T697fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.T629fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.T626fs	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	369					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCTGTGGGGGTTTTGCTGGGG	0.527													-	135047681	T	-	135047681	7	5	51	1	0	1	0	1	0	0	0	0	3621	1725	60	0	47	0	CNOT4	7	135047681	Frame_Shift_Del	DEL	T	TCGA-06-0241-01A-02D-1491-08	5	135047681	24090982	35	3133	3	2									
AGPAT6	137964	broad.mit.edu	37	8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:41456786G>A	uc003xnz.2	+	1	1067	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	43					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	p.R43H(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433													A	41456786	G	A	41456786	3	1	51	1	0	0	0	0	1	0	0	0	391	1087	38	1	130	1	AGPAT6	8	41456786	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		41456786	104907236	36	3134											
FAM83H	286077	broad.mit.edu	37	8	144808129	144808129	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:144808129C>T	uc003yzk.3	-	4	3571	c.3502G>A	c.(3502-3504)Gtg>Atg	p.V1168M		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1168					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATCTTGGGCACGAACTTGCCC	0.647													T	144808129	C	T	144808129	3	4	51	1	0	0	0	0	1	0	0	0	5640	536	19	1	41	1	FAM83H	8	144808129	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	103351343	144808129	1555893	37	3135											
KIAA1432	57589	broad.mit.edu	37	9	5765489	5765489	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:5765489G>A	uc003zjl.4	+	18	2997	c.2806G>A	c.(2806-2808)Gac>Aac	p.D936N	KIAA1432_uc003zjh.3_Missense_Mutation_p.D894N|KIAA1432_uc003zji.3_Missense_Mutation_p.D894N|KIAA1432_uc003zjj.1_Missense_Mutation_p.D436N	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	973						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGGCAAGTGGGACCTTTGTCG	0.448													A	5765489	G	A	5765489	3	1	51	1	0	0	0	0	1	0	0	0	8233	1174	41	3	2754	3	KIAA1432	9	5765489	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		5765489	135447942	38	3136											
TESK1	7016	broad.mit.edu	37	9	35608190	35608190	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:35608190C>G	uc003zxa.3	+	7	1165	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	TESK1_uc010mks.3_Missense_Mutation_p.L117V	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	277	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCCGAACTCTGGTGGGGGA	0.597													G	35608190	C	G	35608190	3	3	51	1	0	0	0	0	1	0	0	0	15764	912	32	5	859	5	TESK1	9	35608190	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	29842701	35608190	105605241	39	3137											
OR13C8	138802	broad.mit.edu	37	9	107332367	107332367	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:107332367G>T	uc011lvo.2	+	0	919	c.919G>T	c.(919-921)Gtc>Ttc	p.V307F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAGGCTGCTGTCAAAAACAT	0.373													T	107332367	G	T	107332367	3	4	51	1	0	0	0	0	1	0	0	0	10938	1377	48	5	921	5	OR13C8	9	107332367	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	71724177	107332367	33881064	40	3138											
ASS1	445	broad.mit.edu	37	9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:133364801G>A	uc010mza.3	+	12	1656	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	ASS1_uc004bzm.3_Missense_Mutation_p.R307H|ASS1_uc004bzn.3_Missense_Mutation_p.R307H	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	307					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													A	133364801	G	A	133364801	3	1	51	1	0	0	0	0	1	0	0	0	1061	1087	38	1	962	1	ASS1	9	133364801	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	26032434	133364801	7848630	41	3139											
SVIL	6840	broad.mit.edu	37	10	29839816	29839816	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr10:29839816G>A	uc001iut.1	-	5	1290	c.537C>T	c.(535-537)gcC>gcT	p.A179A	SVIL_uc001iuu.1_Silent_p.A179A|SVIL_uc009xld.1_Silent_p.A179A	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	179					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGATTCACCGGCACAGGTCC	0.557													A	29839816	G	A	29839816	2	1	51	1	0	0	0	0	0	0	0	1	15418	1103	39	2		2	SVIL	10	29839816	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08		29839816	105694931	42	3140											
MUC5B	727897	broad.mit.edu	37	11	1251288	1251288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:1251288G>A	uc001lta.3	+	10	1333	c.1274G>A	c.(1273-1275)tGc>tAc	p.C425Y	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.C425Y	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	425	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGCACCTGCTCTGTGCAG	0.652													A	1251288	G	A	1251288	3	1	51	1	0	0	0	0	1	0	0	0	9979	1319	46	3	1325	3	MUC5B	11	1251288	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		1251288	133755228	43	3141											
NAV2	89797	broad.mit.edu	37	11	20099593	20099593	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:20099593G>A	uc010rdm.2	+	25	5651	c.5290G>A	c.(5290-5292)Gca>Aca	p.A1764T	NAV2_uc001mpp.3_Missense_Mutation_p.A1644T|NAV2_uc001mpr.4_Missense_Mutation_p.A1708T|NAV2_uc021qew.1_Missense_Mutation_p.A1708T|NAV2_uc001mpt.2_Missense_Mutation_p.A757T|NAV2_uc009yhx.3_Missense_Mutation_p.A772T|NAV2_uc009yhy.1_Missense_Mutation_p.A670T|NAV2_uc009yhz.3_Missense_Mutation_p.A353T|NAV2_uc001mpu.3_Missense_Mutation_p.A146T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1764						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAACAGAACGCAGCTGCCCA	0.433													A	20099593	G	A	20099593	3	1	51	1	0	0	0	0	1	0	0	0	10184	1087	38	1	5325	1	NAV2	11	20099593	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	18848305	20099593	114906923	44	3142											
NOX4	50507	broad.mit.edu	37	11	89073272	89073272	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:89073272A>C	uc001pct.3	-	14	1644	c.1405T>G	c.(1405-1407)Ttc>Gtc	p.F469V	NOX4_uc009yvr.3_Missense_Mutation_p.F444V|NOX4_uc001pcu.3_Missense_Mutation_p.F395V|NOX4_uc001pcw.3_Missense_Mutation_p.F162V|NOX4_uc001pcx.3_Missense_Mutation_p.F122V|NOX4_uc001pcv.3_Missense_Mutation_p.F429V|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Missense_Mutation_p.F233V|NOX4_uc010rtv.2_Missense_Mutation_p.F405V|NOX4_uc009yvq.3_Missense_Mutation_p.F445V	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	469	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AACCAACGGAAGGACTGGATA	0.328													C	89073272	A	C	89073272	3	2	51	1	0	0	0	0	1	0	0	0	10558	72	3	5	347	5	NOX4	11	89073272	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	68973679	89073272	45933244	45	3143											
LRP1	4035	broad.mit.edu	37	12	57581183	57581183	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr12:57581183C>T	uc001snd.3	+	41	7441	c.6975C>T	c.(6973-6975)gtC>gtT	p.V2325V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2325					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			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)	GTGAGACCGTCATCACTATGT	0.612													T	57581183	C	T	57581183	2	4	51	1	0	0	0	0	0	0	0	1	8951	813	29	3		3	LRP1	12	57581183	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		57581183	76270712	46	3144											
PCDH17	27253	broad.mit.edu	37	13	58207302	58207303	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr13:58207302_58207303insA	uc001vhq.1	+	0	1514_1515	c.622_623insA	c.(622-624)cacfs	p.H208fs	PCDH17_uc010aec.1_Frame_Shift_Ins_p.H208fs	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	208	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			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)		GCAACAGAATCACCATACGCTC	0.599													A	58207303	-	A	58207302	7	5	51	1	0	1	1	0	0	0	0	0	11512	826	29	0	624	0	PCDH17	13	58207302	Frame_Shift_Ins	INS	-	TCGA-06-0241-01A-02D-1491-08		58207302	56962576	47	3145											
MBIP	51562	broad.mit.edu	37	14	36789728	36789728	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr14:36789728G>T	uc001wtm.2	-	0	155	c.67C>A	c.(67-69)Ccc>Acc	p.P23T	MBIP_uc001wto.2_Missense_Mutation_p.P23T|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.P23T	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.	23					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GAGAGGTTGGGTCTGCATCTT	0.587													T	36789728	G	T	36789728	3	4	51	1	0	0	0	0	1	0	0	0	9349	1261	44	5	1003	5	MBIP	14	36789728	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		36789728	70559812	48	3146											
FBN1	2200	broad.mit.edu	37	15	48787734	48787734	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:48787734C>T	uc001zwx.2	-	20	2866	c.2471G>A	c.(2470-2472)aGc>aAc	p.S824N		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	824	EGF-like 13; calcium-binding.				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			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)		AGAGCCTGGGCTGTTCTTGCA	0.368													T	48787734	C	T	48787734	3	4	51	1	0	0	0	0	1	0	0	0	5702	797	28	3	6328	3	FBN1	15	48787734	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		48787734	53743658	49	3147											
AKAP13	11214	broad.mit.edu	37	15	86123972	86123972	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:86123972C>T	uc002blv.1	+	6	2843	c.2673C>T	c.(2671-2673)gaC>gaT	p.D891D	AKAP13_uc002blt.1_Silent_p.D891D|AKAP13_uc002blu.1_Silent_p.D891D|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	891					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAACACTGACTCTTCCCTGC	0.512													T	86123972	C	T	86123972	2	4	51	1	0	0	0	0	0	0	0	1	449	564	20	3		3	AKAP13	15	86123972	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	37336238	86123972	16407420	50	3148											
FANCI	55215	broad.mit.edu	37	15	89859631	89859631	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:89859631A>G	uc010bnp.1	+	37	4018	c.3928A>G	c.(3928-3930)Act>Gct	p.T1310A	FANCI_uc002bnm.1_Missense_Mutation_p.T1250A|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.T1070A|FANCI_uc002bnq.1_Missense_Mutation_p.T723A|POLG_uc002bns.4_3'UTR|POLG_uc002bnr.4_3'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	1310					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTTCTAGGGCACTGCATCAGA	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	89859631	A	G	89859631	3	3	51	1	0	0	0	0	1	0	0	0	5669	159	6	4	4074	4	FANCI	15	89859631	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	3735659	89859631	12671761	51	3149											
ITGAM	3684	broad.mit.edu	37	16	31308885	31308885	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:31308885C>T	uc002ebr.3	+	12	1505	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	ITGAM_uc002ebq.3_Silent_p.N469N|ITGAM_uc010cam.1_Missense_Mutation_p.R73W|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	469					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGGACAGCAACGGCAGCACCG	0.637													T	31308885	C	T	31308885	2	4	51	1	0	0	0	0	0	0	0	1	7887	535	19	1		1	ITGAM	16	31308885	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		31308885	59045868	52	3150											
NOL3	8996	broad.mit.edu	37	16	67208778	67208778	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:67208778G>A	uc010vjd.2	+	2	733	c.540G>A	c.(538-540)caG>caA	p.Q180Q	NOL3_uc010vjc.2_Missense_Mutation_p.E184K|NOL3_uc002erp.3_Missense_Mutation_p.E184K	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	180					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		agcagaaccagagccggaact	0.642													A	67208778	G	A	67208778	2	1	51	1	0	0	0	0	0	0	0	1	10523	943	33	3		3	NOL3	16	67208778	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	35899893	67208778	23145975	53	3151											
KCTD19	146212	broad.mit.edu	37	16	67337179	67337179	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:67337179C>T	uc002esu.2	-	3	564	c.513G>A	c.(511-513)gaG>gaA	p.E171E	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	171						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGTAGTGCACCTCCTCTTCTG	0.567													T	67337179	C	T	67337179	2	4	51	1	0	0	0	0	0	0	0	1	8106	680	24	3		3	KCTD19	16	67337179	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	128401	67337179	23017574	54	3152											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	51	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		7577538	73617672	55	3153											
THEG	51298	broad.mit.edu	37	19	367156	367156	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:367156C>T	uc002lol.3	-	6	865	c.822G>A	c.(820-822)ccG>ccA	p.P274P	THEG_uc002lom.3_Silent_p.P250P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	274					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.K273T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGGGGCCTTCGGCTTTGACA	0.572													T	367156	C	T	367156	2	4	51	1	0	0	0	0	0	0	0	1	15854	871	31	2		2	THEG	19	367156	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		367156	58761827	56	3154											
ELSPBP1	64100	broad.mit.edu	37	19	48511941	48511941	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:48511941G>C	uc002pht.3	+	1	195	c.17G>C	c.(16-18)aGt>aCt	p.S6T		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	6					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CGATGGTCCAGTTACCTGTTG	0.468													C	48511941	G	C	48511941	3	2	51	1	0	0	0	0	1	0	0	0	5083	1029	36	5	19	5	ELSPBP1	19	48511941	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	48144785	48511941	10617042	57	3155											
TNNT1	7138	broad.mit.edu	37	19	55648471	55648471	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:55648471C>T	uc002qjb.4	-	11	700	c.611_splice	c.e11+1	p.R204_splice	TNNT1_uc002qjc.4_Splice_Site_p.R204_splice|TNNT1_uc002qje.4_Splice_Site_p.R193_splice|TNNT1_uc002qjd.4_Splice_Site_p.R193_splice	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	204					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CAGCACCTACCGGAGCTGTTC	0.622													T	55648471	C	T	55648471	3	4	51	1	0	0	0	0	1	0	0	0	16327	666	23	2	241	2	TNNT1	19	55648471	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	7136530	55648471	3480512	58	3156											
PEG3	5178	broad.mit.edu	37	19	57327999	57327999	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:57327999C>T	uc002qnu.2	-	6	2162	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R575H|PEG3_uc002qnv.2_Missense_Mutation_p.R604H|PEG3_uc002qnw.2_Missense_Mutation_p.R480H|PEG3_uc002qnx.2_Missense_Mutation_p.R478H|PEG3_uc010etr.2_Missense_Mutation_p.R604H	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	604					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R604H(2)|p.R604C(1)		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)		GGTTTCCCCGCGCtcacgttc	0.458													T	57327999	C	T	57327999	3	4	51	1	0	0	0	0	1	0	0	0	11720	768	27	1	2959	1	PEG3	19	57327999	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	1679528	57327999	1800984	59	3157											
CHD6	84181	broad.mit.edu	37	20	40045338	40045338	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:40045338G>A	uc002xka.1	-	32	6554	c.6376C>T	c.(6376-6378)Ccc>Tcc	p.P2126S	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2126					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCGGGGTGGGCAGTGTGCCT	0.572													A	40045338	G	A	40045338	3	1	51	1	0	0	0	0	1	0	0	0	3329	1203	42	3	1791	3	CHD6	20	40045338	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		40045338	22980182	60	3158											
RTEL1	51750	broad.mit.edu	37	20	62326129	62326129	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:62326129G>T	uc021wge.1	+	30	3315	c.3145G>T	c.(3145-3147)Gtg>Ttg	p.V1049L	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.V1049L|RTEL1_uc011abd.2_Missense_Mutation_p.V1073L|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.V826L|RTEL1_uc002yfx.1_Missense_Mutation_p.V294L|TNFRSF6B_uc002yfy.3_5'UTR|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	1049					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGGGTCTGGAGTGCCCAGAGC	0.687													T	62326129	G	T	62326129	3	4	51	1	0	0	0	0	1	0	0	0	13720	1029	36	5	3267	5	RTEL1	20	62326129	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	22280791	62326129	699391	61	3159											
MAGEB4	4115	broad.mit.edu	37	X	30260976	30260976	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:30260976C>T	uc004dcb.3	+	0	920	c.724C>T	c.(724-726)Cga>Tga	p.R242*	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	242	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGGGGAACCCCGAAAGCTCAT	0.488													T	30260976	C	T	30260976	4	4	51	1	0	0	0	0	0	1	0	0	9178	644	23	2	726	2	MAGEB4	23	30260976	Nonsense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		30260976	125009584	62	3160											
TAB3	257397	broad.mit.edu	37	X	30872355	30872355	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:30872355C>T	uc004dcj.3	-	5	2090	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	TAB3_uc004dck.3_Missense_Mutation_p.R476H|TAB3_uc010ngl.3_Missense_Mutation_p.R476H	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	476					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGCTGCAGAGCGCTCTTCTTG	0.443													T	30872355	C	T	30872355	3	4	51	1	0	0	0	0	1	0	0	0	15494	768	27	1	735	1	TAB3	23	30872355	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	611379	30872355	124398205	63	3161											
RGN	9104	broad.mit.edu	37	X	46951551	46951551	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:46951551C>G	uc004dgz.1	+	6	1755	c.786C>G	c.(784-786)tgC>tgG	p.C262W	RGN_uc004dha.1_Missense_Mutation_p.C262W|RGN_uc010nho.1_Missense_Mutation_p.C209W|RGN_uc010nhp.1_Missense_Mutation_p.C190W	NM_152869	NP_690608	Q15493	RGN_HUMAN	Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA.	262					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						ATGTGACCTGCGCCCGGGATG	0.468													G	46951551	C	G	46951551	3	3	51	1	0	0	0	0	1	0	0	0	13282	776	27	5	804	5	RGN	23	46951551	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	16079196	46951551	108319009	64	3162											
USP11	8237	broad.mit.edu	37	X	47098522	47098522	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:47098522G>A	uc004dhp.3	+	1	359	c.359G>A	c.(358-360)gGg>gAg	p.G120E	USP11_uc004dhq.3_5'UTR	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	120	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GTGCAGGGAGGGGACCAGGAC	0.557													A	47098522	G	A	47098522	3	1	51	1	0	0	0	0	1	0	0	0	17039	1232	43	3	365	3	USP11	23	47098522	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	146971	47098522	108172038	65	3163											
KLF8	11279	broad.mit.edu	37	X	56291902	56291902	+	Missense_Mutation	SNP	C	C	A	rs143280924		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:56291902C>A	uc004dur.3	+	2	1317	c.371C>A	c.(370-372)aCg>aAg	p.T124K	KLF8_uc010nkg.2_Missense_Mutation_p.T119K|KLF8_uc011mop.2_Missense_Mutation_p.T124K|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T124T(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GTGGTGTCCACGTCAACATCT	0.542													A	56291902	C	A	56291902	3	1	51	1	0	0	0	0	1	0	0	0	8352	536	19	5	381	5	KLF8	23	56291902	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	9193380	56291902	98978658	66	3164											
UBQLN2	29978	broad.mit.edu	37	X	56592046	56592046	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:56592046C>T	uc004dus.3	+	0	2021	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	UBQLN2_uc011moq.1_Silent_p.V468V	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	580						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATCCAGAAGTCAGATTTCAGC	0.512													T	56592046	C	T	56592046	2	4	51	1	0	0	0	0	0	0	0	1	16894	813	29	3		3	UBQLN2	23	56592046	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	300144	56592046	98678514	67	3165											
MTMR8	55613	broad.mit.edu	37	X	63445208	63445208	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:63445208G>A	uc011mou.2	-	9	1538	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	MTMR8_uc004dvq.2_Missense_Mutation_p.T99M|MTMR8_uc004dvr.2_Missense_Mutation_p.T108M	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAAAAGTGGCGTCTGTGCCTT	0.517													A	63445208	G	A	63445208	3	1	51	1	0	0	0	0	1	0	0	0	9949	1145	40	1		1	MTMR8	23	63445208	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	6853162	63445208	91825352	68	3166											
KIF4A	24137	broad.mit.edu	37	X	69595167	69595167	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:69595167G>A	uc004dyg.3	+	16	2035	c.1892G>A	c.(1891-1893)cGt>cAt	p.R631H	KIF4A_uc010nkw.3_Missense_Mutation_p.R631H|KIF4A_uc004dyf.2_Missense_Mutation_p.R631H	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	631					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			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						TCCACAGAGCGTACTGTCTCC	0.423													A	69595167	G	A	69595167	3	1	51	1	0	0	0	0	1	0	0	0	8303	1145	40	1	1954	1	KIF4A	23	69595167	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	6149959	69595167	85675393	69	3167											
ATRX	546	broad.mit.edu	37	X	76937238	76937238	+	Silent	SNP	T	T	C			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:76937238T>C	uc004ecp.4	-	8	3742	c.3510A>G	c.(3508-3510)caA>caG	p.Q1170Q	ATRX_uc004ecq.4_Silent_p.Q1132Q|ATRX_uc004eco.4_Silent_p.Q955Q|ATRX_uc004ecr.2_Silent_p.Q1102Q|ATRX_uc010nlx.1_Silent_p.Q1141Q|ATRX_uc010nly.1_Silent_p.Q1115Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1170					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATGAAGTTCTTTGCTTCTTCT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76937238	T	C	76937238	2	2	51	1	0	0	0	0	0	0	0	1	1208	1838	64	4		4	ATRX	23	76937238	Silent	SNP	T	TCGA-06-0241-01A-02D-1491-08	7342071	76937238	78333322	70	3168											
GPR174	84636	broad.mit.edu	37	X	78427380	78427380	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:78427380C>T	uc004edg.1	+	0	912	c.876C>T	c.(874-876)taC>taT	p.Y292Y		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	292						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAGTCATATACTACTTTTCCA	0.398										HNSCC(63;0.18)			T	78427380	C	T	78427380	2	4	51	1	0	0	0	0	0	0	0	1	6672	576	20	3		3	GPR174	23	78427380	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	1490142	78427380	76843180	71	3169											
COL4A6	1288	broad.mit.edu	37	X	107412771	107412771	+	Silent	SNP	G	G	A			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:107412771G>A	uc004enw.4	-	36	3751	c.3648C>T	c.(3646-3648)atC>atT	p.I1216I	COL4A6_uc004env.4_Silent_p.I1215I|COL4A6_uc011msn.2_Silent_p.I1191I|COL4A6_uc010npk.3_Silent_p.I1191I	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1216	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTGGAGCTCCGATGCCAATTC	0.577									Alport syndrome with Diffuse Leiomyomatosis				A	107412771	G	A	107412771	2	1	51	1	0	0	0	0	0	0	0	1	3695	1048	37	2		2	COL4A6	23	107412771	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	28985391	107412771	47857789	72	3170											
SLC9A6	10479	broad.mit.edu	37	X	135081058	135081058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:135081058C>T	uc004ezk.3	+	4	800	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	SLC9A6_uc011mvx.2_Nonsense_Mutation_p.Q190*|SLC9A6_uc004ezj.3_Nonsense_Mutation_p.Q210*	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	210					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.E241*(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)					GGTAACGGGACAACTTGCAGG	0.353													T	135081058	C	T	135081058	4	4	51	1	0	0	0	0	0	1	0	0	14718	479	17	3	742	3	SLC9A6	23	135081058	Nonsense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	27668287	135081058	20189502	73	3171											
PLXNB3	5365	broad.mit.edu	37	X	153033730	153033730	+	Silent	SNP	C	C	T			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:153033730C>T	uc010nuk.2	+	4	1453	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.G53G|PLXNB3_uc004fii.2_Silent_p.G371G|PLXNB3_uc011mzd.1_Silent_p.G10G	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	371	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			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)					ACCCCTGTGGCGACGAGCACA	0.687													T	153033730	C	T	153033730	2	4	51	1	0	0	0	0	0	0	0	1	12125	755	27	1		1	PLXNB3	23	153033730	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	17952672	153033730	2236830	74	3172											
UBE4B	10277	broad.mit.edu	37	1	10192468	10192468	+	Silent	SNP	C	C	G			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:10192468C>G	uc021ogc.1	+	15	2794	c.2106C>G	c.(2104-2106)ggC>ggG	p.G702G	UBE4B_uc001aqs.4_Silent_p.G651G|UBE4B_uc001aqr.4_Silent_p.G522G|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.G106G	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	651					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGTTAAATGGCGAAACCCGTG	0.373													G	10192468	C	G	10192468	2	3	52	1	0	0	0	0	0	0	0	1	16880	755	27	5		5	UBE4B	1	10192468	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08		10192468	239058153	1	3173											
GRIK3	2899	broad.mit.edu	37	1	37307528	37307528	+	Missense_Mutation	SNP	C	C	T	rs114307108	by1000genomes	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:37307528C>T	uc001caz.2	-	9	1474	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	GRIK3_uc001cba.1_Missense_Mutation_p.V447I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	447					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGAAACATGACGAAGGGCTCC	0.577													T	37307528	C	T	37307528	3	4	52	1	0	0	0	0	1	0	0	0	6775	536	19	1	1448	1	GRIK3	1	37307528	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	27115060	37307528	211943093	2	3174											
COL24A1	255631	broad.mit.edu	37	1	86340334	86340334	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:86340334G>A	uc001dlj.3	-	34	3211	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	COL24A1_uc001dli.3_Missense_Mutation_p.R182W|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R346W|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1046	Collagen-like 9.				cell adhesion	collagen	extracellular matrix structural constituent			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)		GCACTCACCCGTAAACCTGGT	0.408													A	86340334	G	A	86340334	3	1	52	1	0	0	0	0	1	0	0	0	3683	1144	40	1	2112	1	COL24A1	1	86340334	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	49032806	86340334	162910287	3	3175											
CFH	10877	broad.mit.edu	37	1	196884116	196884116	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:196884116C>A	uc001gtp.3	+	8	1525	c.1388C>A	c.(1387-1389)cCt>cAt	p.P463H	CFH_uc021pgt.1_Missense_Mutation_p.P86H|CFH_uc009wyy.3_Missense_Mutation_p.P462H|CFH_uc001gto.3_Missense_Mutation_p.P216H	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	816	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCTCCTCCACCTATTAGCAAT	0.378													A	196884116	C	A	196884116	3	1	52	1	0	0	0	0	1	0	0	0	3283	681	24	5		5	CFH	1	196884116	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	110543782	196884116	52366505	4	3176											
CENPF	1063	broad.mit.edu	37	1	214815836	214815836	+	Silent	SNP	C	C	T	rs139914723	by1000genomes	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:214815836C>T	uc001hkm.3	+	11	4329	c.4155C>T	c.(4153-4155)gaC>gaT	p.D1385D		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1482					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			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)		CTCCATTGGACGAGAGTAATT	0.423													T	214815836	C	T	214815836	2	4	52	1	0	0	0	0	0	0	0	1	3231	535	19	1		1	CENPF	1	214815836	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	17931720	214815836	34434785	5	3177											
GKN1	56287	broad.mit.edu	37	2	69207121	69207121	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr2:69207121T>A	uc002sfc.3	+	4	497	c.434T>A	c.(433-435)cTg>cAg	p.L145Q		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	145	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GTCGATGACCTGAGCAAGTTC	0.502													A	69207121	T	A	69207121	3	1	52	1	0	0	0	0	1	0	0	0	6424	1580	55	5	452	5	GKN1	2	69207121	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		69207121	173992252	6	3178											
FAM123C	205147	broad.mit.edu	37	2	131520943	131520943	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr2:131520943C>A	uc021voy.1	+	0	1298	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H	FAM123C_uc002trw.2_Missense_Mutation_p.P433H|FAM123C_uc010fmv.2_Missense_Mutation_p.P433H|FAM123C_uc010fms.1_Missense_Mutation_p.P433H|FAM123C_uc010fmt.1_Missense_Mutation_p.P433H|FAM123C_uc010fmu.1_Missense_Mutation_p.P433H	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	433										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AGCGAGGGTCCTCTTGGCCCC	0.657													A	131520943	C	A	131520943	3	1	52	1	0	0	0	0	1	0	0	0	5424	681	24	5	1300	5	FAM123C	2	131520943	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	62313822	131520943	111678430	7	3179											
LRIG1	26018	broad.mit.edu	37	3	66449417	66449417	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr3:66449417C>T	uc003dmx.3	-	9	1223	c.1209G>A	c.(1207-1209)tcG>tcA	p.S403S	LRIG1_uc011bfu.2_Silent_p.S23S|LRIG1_uc003dmw.3_Silent_p.S69S|LRIG1_uc010hnz.3_Intron|LRIG1_uc010hoa.3_Silent_p.S427S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	403						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTCCAGCCCCGAGAATGCTC	0.522													T	66449417	C	T	66449417	2	4	52	1	0	0	0	0	0	0	0	1	8944	639	23	2		2	LRIG1	3	66449417	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08		66449417	131573013	8	3180											
FGFR3	2261	broad.mit.edu	37	4	1808950	1808951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:1808950_1808951insC	uc003gdr.3	+	17	2638_2639	c.2382_2383insC	c.(2380-2385)ctgcccfs	p.L794fs	FGFR3_uc003gdu.2_Frame_Shift_Ins_p.L796fs|FGFR3_uc003gds.3_Frame_Shift_Ins_p.L682fs|FGFR3_uc003gdq.3_Frame_Shift_Ins_p.A772fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	794					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.P795fs*139(2)|p.L794fs*23(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACGACCTGCTGCCCCCGGCCCC	0.688		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				C	1808951	-	C	1808950	7	5	52	1	0	1	1	0	0	0	0	0	5867	1306	46	0	2603	0	FGFR3	4	1808950	Frame_Shift_Ins	INS	-	TCGA-06-0644-01A-02D-1492-08		1808950	189345326	9	3181											
DRD5	1816	broad.mit.edu	37	4	9784011	9784011	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:9784011G>A	uc003gmb.4	+	0	754	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	120					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGTGGCCTTCGACATCATGTG	0.617													A	9784011	G	A	9784011	3	1	52	1	0	0	0	0	1	0	0	0	4760	1058	37	2	360	2	DRD5	4	9784011	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	7975061	9784011	181370265	10	3182											
KIT	3815	broad.mit.edu	37	4	55561758	55561758	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:55561758G>A	uc010igr.3	+	1	235	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	KIT_uc010igs.3_Missense_Mutation_p.V50M	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	50	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.V50M(4)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATAGTCCGCGTGGGCGACGA	0.468		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				A	55561758	G	A	55561758	3	1	52	1	0	0	0	0	1	0	0	0	8329	1145	40	1	154	1	KIT	4	55561758	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	45777747	55561758	135592518	11	3183											
SLC4A4	8671	broad.mit.edu	37	4	72338689	72338689	+	Splice_Site	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:72338689T>C	uc010iic.3	+	14	2020	c.1903_splice	c.e14+2	p.A635_splice	SLC4A4_uc003hfy.3_Splice_Site_p.A635_splice|SLC4A4_uc010iib.3_Splice_Site_p.A635_splice|SLC4A4_uc003hfz.3_Splice_Site_p.A635_splice|SLC4A4_uc003hgc.4_Splice_Site_p.A591_splice|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Silent_p.G513G|SLC4A4_uc003hgb.3_Silent_p.G591G	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	635						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTGACCCAGGTGAGGGCATTA	0.463													C	72338689	T	C	72338689	5	2	52	1	0	0	0	0	0	0	1	0	14656	1710	59	4	2076	4	SLC4A4	4	72338689	Splice_Site	SNP	T	TCGA-06-0644-01A-02D-1492-08	16776931	72338689	118815587	12	3184											
NUDT9	53343	broad.mit.edu	37	4	88362984	88362984	+	Silent	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:88362984T>C	uc003hqq.3	+	3	777	c.447T>C	c.(445-447)aaT>aaC	p.N149N	NUDT9_uc010ikl.3_Silent_p.N117N|NUDT9_uc003hqr.3_Silent_p.N99N	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 9 (NUDT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	149						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TTTCCAGAAATCCTGCAGGAC	0.418													C	88362984	T	C	88362984	2	2	52	1	0	0	0	0	0	0	0	1	10746	1432	50	4		4	NUDT9	4	88362984	Silent	SNP	T	TCGA-06-0644-01A-02D-1492-08	16024295	88362984	102791292	13	3185											
PRDM9	56979	broad.mit.edu	37	5	23524499	23524499	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:23524499A>T	uc003jgo.3	+	9	1189	c.1007A>T	c.(1006-1008)cAc>cTc	p.H336L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	336	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						TTCCAGTACCACAGGCAGATC	0.537										HNSCC(3;0.000094)			T	23524499	A	T	23524499	3	4	52	1	0	0	0	0	1	0	0	0	12463	159	6	5	1041	5	PRDM9	5	23524499	Missense_Mutation	SNP	A	TCGA-06-0644-01A-02D-1492-08		23524499	157390761	14	3186											
CDH9	1007	broad.mit.edu	37	5	26906907	26906907	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:26906907G>A	uc003jgs.1	-	3	733	c.564C>T	c.(562-564)gaC>gaT	p.D188D	CDH9_uc010iug.3_Silent_p.D188D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	188	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATAGTTGGCGTCATCTGCAT	0.403													A	26906907	G	A	26906907	2	1	52	1	0	0	0	0	0	0	0	1	3117	1136	40	1		1	CDH9	5	26906907	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	3382408	26906907	154008353	15	3187											
FBN2	2201	broad.mit.edu	37	5	127712445	127712445	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:127712445G>C	uc003kuu.3	-	13	2390	c.1951C>G	c.(1951-1953)Cca>Gca	p.P651A	FBN2_uc003kuv.2_Missense_Mutation_p.P618A	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	651	EGF-like 9; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCCCATTTGGAGCCAAGACA	0.398													C	127712445	G	C	127712445	3	2	52	1	0	0	0	0	1	0	0	0	5703	1174	41	5	6995	5	FBN2	5	127712445	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	100805538	127712445	53202815	16	3188											
PCDHB11	56125	broad.mit.edu	37	5	140580521	140580521	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:140580521G>A	uc003liy.3	+	0	1174	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	392	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V392M(2)		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)			CCTCCCATTCGTGCTAAAATC	0.453													A	140580521	G	A	140580521	3	1	52	1	0	0	0	0	1	0	0	0	11536	1145	40	1	1176	1	PCDHB11	5	140580521	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	12868076	140580521	40334739	17	3189											
PRSS16	10279	broad.mit.edu	37	6	27219612	27219612	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:27219612G>A	uc003nja.3	+	7	816	c.801G>A	c.(799-801)acG>acA	p.T267T	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	267					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATTGCGGACGGAGCTGAGCG	0.697													A	27219612	G	A	27219612	2	1	52	1	0	0	0	0	0	0	0	1	12616	1103	39	2		2	PRSS16	6	27219612	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		27219612	143895455	18	3190											
PIM1	5292	broad.mit.edu	37	6	37138555	37138557	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:37138555_37138557delAGA	uc003onk.3	+	1	519_521	c.89_91delAGA	c.(88-93)gagaag>gag	p.K31del	PIM1_uc011dtw.2_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	122					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CTAGGCAAGGAGAAGGAGCCCCT	0.714			T	BCL6	NHL								-	37138557	AGA	-	37138555	7	5	52	1	0	1	0	1	0	0	0	0	11927	304	11	0	95	0	PIM1	6	37138555	In_Frame_Del	DEL	AGA	TCGA-06-0644-01A-02D-1492-08	9918943	37138555	133976512	19	3191											
KCNK5	8645	broad.mit.edu	37	6	39162433	39162433	+	Silent	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:39162433G>T	uc003oon.3	-	2	766	c.402C>A	c.(400-402)ggC>ggA	p.G134G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	134					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGAAGAACTTGCCCAGGGCAC	0.597													T	39162433	G	T	39162433	2	4	52	1	0	0	0	0	0	0	0	1	8069	1306	46	5		5	KCNK5	6	39162433	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	2023878	39162433	131952634	20	3192											
HTR1E	3354	broad.mit.edu	37	6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:87725488G>A	uc003pli.3	+	1	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	HTR1E_uc021zcg.1_Missense_Mutation_p.V146I	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	146					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.V146I(4)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATCCTTACCGTCTGGACCAT	0.582													A	87725488	G	A	87725488	3	1	52	1	0	0	0	0	1	0	0	0	7439	1145	40	1	438	1	HTR1E	6	87725488	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	48563055	87725488	83389579	21	3193											
PTPRK	5796	broad.mit.edu	37	6	128319982	128319982	+	Silent	SNP	C	C	T	rs141454620	by1000genomes	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:128319982C>T	uc003qbk.3	-	15	2926	c.2559G>A	c.(2557-2559)ggG>ggA	p.G853G	PTPRK_uc010kfc.3_Silent_p.G854G|PTPRK_uc003qbj.3_Silent_p.G854G|PTPRK_uc011ebu.2_Silent_p.G870G|PTPRK_uc010kfd.1_Silent_p.G79G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	853					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGATTCCGTCCCCTCACAGA	0.478													T	128319982	C	T	128319982	2	4	52	1	0	0	0	0	0	0	0	1	12805	842	30	3		3	PTPRK	6	128319982	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	40594494	128319982	42795085	22	3194											
SKAP2	8935	broad.mit.edu	37	7	26766511	26766511	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:26766511C>T	uc003syc.3	-	6	877	c.584G>A	c.(583-585)cGt>cAt	p.R195H	SKAP2_uc011jzi.2_Missense_Mutation_p.R23H|SKAP2_uc011jzj.2_Missense_Mutation_p.R180H	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	195	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.R195H(2)|p.R195G(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CTGATATATACGTTTATCAGG	0.303													T	26766511	C	T	26766511	3	4	52	1	0	0	0	0	1	0	0	0	14356	536	19	1	519	1	SKAP2	7	26766511	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		26766511	132372152	23	3195											
GRB10	2887	broad.mit.edu	37	7	50660761	50660761	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:50660761T>C	uc003tpi.2	-	15	1719	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	GRB10_uc003tph.3_Missense_Mutation_p.D500G|GRB10_uc003tpj.2_Missense_Mutation_p.D512G|GRB10_uc003tpk.2_Missense_Mutation_p.D558G|GRB10_uc010kzb.2_Missense_Mutation_p.D500G|GRB10_uc003tpl.2_Missense_Mutation_p.D552G|GRB10_uc003tpm.2_Missense_Mutation_p.D500G	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	558	SH2.		D -> H (in dbSNP:rs11768472).		insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GTTCCCGTCATCTAGGCTGAA	0.547									Russell-Silver syndrome				C	50660761	T	C	50660761	3	2	52	1	0	0	0	0	1	0	0	0	6756	1435	50	4	115	4	GRB10	7	50660761	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08	23894250	50660761	108477902	24	3196											
PCLO	27445	broad.mit.edu	37	7	82544904	82544904	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:82544904C>T	uc003uhx.2	-	6	12687	c.12398G>A	c.(12397-12399)cGt>cAt	p.R4133H	PCLO_uc003uhv.2_Missense_Mutation_p.R4133H|PCLO_uc010lec.3_Missense_Mutation_p.R1098H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4064					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						TGTCCCTCTACGAAATTCCTG	0.408													T	82544904	C	T	82544904	3	4	52	1	0	0	0	0	1	0	0	0	11583	536	19	1	3123	1	PCLO	7	82544904	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	31884143	82544904	76593759	25	3197											
ABCB4	5244	broad.mit.edu	37	7	87083895	87083895	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:87083895C>T	uc003uiv.1	-	4	376	c.300G>A	c.(298-300)ttG>ttA	p.L100L	ABCB4_uc003uiw.1_Silent_p.L100L|ABCB4_uc003uix.1_Silent_p.L100L|ABCB4_uc003uiy.3_Silent_p.L100L	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	100	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTAGCAGCGACAAGGAAAAGT	0.259													T	87083895	C	T	87083895	2	4	52	1	0	0	0	0	0	0	0	1	43	477	17	3		3	ABCB4	7	87083895	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	4538991	87083895	72054768	26	3198											
RELN	5649	broad.mit.edu	37	7	103137114	103137114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:103137114G>A	uc022ajr.1	-	55	9212	c.9052C>T	c.(9052-9054)Cga>Tga	p.R3018*	RELN_uc022ajq.1_Nonsense_Mutation_p.R3018*|RELN_uc010liz.3_Nonsense_Mutation_p.R3018*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3018					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			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)		CAGCGAAGTCGAGTTGTGTTG	0.478													A	103137114	G	A	103137114	4	1	52	1	0	0	0	0	0	1	0	0	13220	1066	37	2	1370	2	RELN	7	103137114	Nonsense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	16053219	103137114	56001549	27	3199											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	52	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-06-0644-01A-02D-1492-08	37316022	140453136	18685527	28	3200											
WDR86	349136	broad.mit.edu	37	7	151093239	151093239	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:151093239G>A	uc011kvk.1	-	2	798	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	WDR86_uc003wka.2_Missense_Mutation_p.R75W|WDR86_uc003wkb.2_Missense_Mutation_p.R117W|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	117										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGCTGTCCGGTCATAGGAG	0.627													A	151093239	G	A	151093239	3	1	52	1	0	0	0	0	1	0	0	0	17331	1115	39	2	797	2	WDR86	7	151093239	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	10640103	151093239	8045424	29	3201											
RIMS2	9699	broad.mit.edu	37	8	104709403	104709403	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr8:104709403C>T	uc003ylp.3	+	1	405	c.266C>T	c.(265-267)gCg>gTg	p.A89V		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	120	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			AAGGGTGATGCGCCAACCTGT	0.438										HNSCC(12;0.0054)			T	104709403	C	T	104709403	3	4	52	1	0	0	0	0	1	0	0	0	13368	768	27	1	272	1	RIMS2	8	104709403	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		104709403	41654619	30	3202											
PRSS3	5646	broad.mit.edu	37	9	33798043	33798043	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:33798043C>T	uc003ztj.4	+	2	639	c.588C>T	c.(586-588)tgC>tgT	p.C196C	PRSS3_uc003zti.4_Silent_p.C153C|PRSS3_uc022bfu.1_Silent_p.C132C|PRSS3_uc003ztl.4_Silent_p.C139C	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	196	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCACTGAGTGCCTCATCTCCG	0.567													T	33798043	C	T	33798043	2	4	52	1	0	0	0	0	0	0	0	1	12622	747	26	3		3	PRSS3	9	33798043	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08		33798043	107415388	31	3203											
WNK2	65268	broad.mit.edu	37	9	96080166	96080166	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:96080166G>A	uc004ati.1	+	29	6751	c.6751G>A	c.(6751-6753)Gga>Aga	p.G2251R	WNK2_uc011lud.1_Intron|WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2251					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGCGCCCTCGGAACCGCCCG	0.687													A	96080166	G	A	96080166	3	1	52	1	0	0	0	0	1	0	0	0	17375	1131	39	2		2	WNK2	9	96080166	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	62282123	96080166	45133265	32	3204											
SLC46A2	57864	broad.mit.edu	37	9	115652489	115652489	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:115652489G>A	uc004bgk.3	-	0	705	c.473C>T	c.(472-474)gCg>gTg	p.A158V		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	158						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGATCCCAGCGCCATGACCCC	0.682													A	115652489	G	A	115652489	3	1	52	1	0	0	0	0	1	0	0	0	14645	1087	38	1	970	1	SLC46A2	9	115652489	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	19572323	115652489	25560942	33	3205											
OR1N2	138882	broad.mit.edu	37	9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:125316158G>A	uc011lyx.2	+	0	710	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517													A	125316158	G	A	125316158	3	1	52	1	0	0	0	0	1	0	0	0	10970	1087	38	1	712	1	OR1N2	9	125316158	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	9663669	125316158	15897273	34	3206											
COL5A1	1289	broad.mit.edu	37	9	137622156	137622156	+	Silent	SNP	C	C	T	rs138702819	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:137622156C>T	uc004cfe.3	+	6	1381	c.999C>T	c.(997-999)gtC>gtT	p.V333V		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	333	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAGAGGACGTCGGCATCGGGG	0.622													T	137622156	C	T	137622156	2	4	52	1	0	0	0	0	0	0	0	1	3696	871	31	2		2	COL5A1	9	137622156	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	12305998	137622156	3591275	35	3207											
RBP3	5949	broad.mit.edu	37	10	48389546	48389546	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:48389546G>A	uc001jez.3	-	0	1446	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	444	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.F444F(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAAAACTATCGAAGCGCAGGT	0.617													A	48389546	G	A	48389546	2	1	52	1	0	0	0	0	0	0	0	1	13157	1049	37	2		2	RBP3	10	48389546	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		48389546	87145201	36	3208											
PTEN	5728	broad.mit.edu	37	10	89711988	89711989	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:89711988_89711989delTA	uc001kfb.3	+	5	1638_1639	c.606_607delTA	c.(604-609)actattfs	p.T202fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	202	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.I203fs*39(2)|p.Y27fs*1(2)|p.I203fs*18(2)|p.Y27_N212>Y(2)|p.T202I(1)|p.T202fs*19(1)|p.G165_K342del(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTTGAAACTATTCCAATGTT	0.371		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89711989	TA	-	89711988	7	5	52	1	0	1	0	1	0	0	0	0	12738	1509	53	0	628	0	PTEN	10	89711988	Frame_Shift_Del	DEL	TA	TCGA-06-0644-01A-02D-1492-08	41322442	89711988	45822759	37	3209											
CTBP2	1488	broad.mit.edu	37	10	126691658	126691658	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:126691658C>T	uc009yak.3	-	4	516	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	CTBP2_uc009yal.3_Missense_Mutation_p.V77M|CTBP2_uc001lif.4_Missense_Mutation_p.V77M|CTBP2_uc001lih.4_Missense_Mutation_p.V77M|CTBP2_uc001lid.4_Missense_Mutation_p.V145M|CTBP2_uc001lie.4_Missense_Mutation_p.V617M	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	77					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ATGGCGCCCACGGCTTCGTTT	0.627													T	126691658	C	T	126691658	3	4	52	1	0	0	0	0	1	0	0	0	3998	536	19	1	1136	1	CTBP2	10	126691658	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	36979670	126691658	8843089	38	3210											
OR5M9	390162	broad.mit.edu	37	11	56230656	56230656	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr11:56230656G>A	uc010rjj.2	-	0	222	c.222C>T	c.(220-222)aaC>aaT	p.N74N	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGGGGGTAACGTTGGAGGAGA	0.438													A	56230656	G	A	56230656	2	1	52	1	0	0	0	0	0	0	0	1	11177	1136	40	1		1	OR5M9	11	56230656	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		56230656	78775860	39	3211											
B4GALNT3	283358	broad.mit.edu	37	12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:657400C>T	uc001qii.1	+	8	790	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_uc001qij.1_Nonsense_Mutation_p.R166*	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	264						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582													T	657400	C	T	657400	4	4	52	1	0	0	0	0	0	1	0	0	1268	760	27	1	824	1	B4GALNT3	12	657400	Nonsense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		657400	133194495	40	3212											
PIK3C2G	5288	broad.mit.edu	37	12	18716419	18716419	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:18716419C>T	uc001rdt.3	+	26	3882	c.3766C>T	c.(3766-3768)Ctg>Ttg	p.L1256L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L1297L|PIK3C2G_uc010sic.2_Silent_p.L1075L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1256	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTTTGCATCACTGACTCTCCC	0.398													T	18716419	C	T	18716419	2	4	52	1	0	0	0	0	0	0	0	1	11911	564	20	3		3	PIK3C2G	12	18716419	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	18059019	18716419	115135476	41	3213											
PDE3A	5139	broad.mit.edu	37	12	20522696	20522696	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:20522696G>A	uc001reh.2	+	0	518	c.478G>A	c.(478-480)Gct>Act	p.A160T		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	160					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			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)	CCTGCCTCTGGCTGTCGCGCT	0.701													A	20522696	G	A	20522696	3	1	52	1	0	0	0	0	1	0	0	0	11637	1203	42	3	480	3	PDE3A	12	20522696	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	1806277	20522696	113329199	42	3214											
C12orf12	196477	broad.mit.edu	37	12	91348191	91348191	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:91348191C>T	uc001tbj.3	-	0	763	c.329G>A	c.(328-330)cGg>cAg	p.R110Q		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	110										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GCCATACACCCGAAACACTTG	0.647													T	91348191	C	T	91348191	3	4	52	1	0	0	0	0	1	0	0	0	1676	652	23	2	895	2	C12orf12	12	91348191	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	70825495	91348191	42503704	43	3215											
BTBD11	121551	broad.mit.edu	37	12	108013833	108013833	+	Silent	SNP	C	C	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:108013833C>A	uc001tmk.1	+	10	3044	c.2523C>A	c.(2521-2523)ctC>ctA	p.L841L	BTBD11_uc009zut.1_Silent_p.L722L|BTBD11_uc001tmj.3_Silent_p.L841L|BTBD11_uc001tml.1_Silent_p.L378L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	841						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAGGCCTCTCATCCAGTGCT	0.582													A	108013833	C	A	108013833	2	1	52	1	0	0	0	0	0	0	0	1	1539	813	29	5		5	BTBD11	12	108013833	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	16665642	108013833	25838062	44	3216											
FAM48A	55578	broad.mit.edu	37	13	37607599	37607599	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr13:37607599G>A	uc001uwk.3	-	9	942	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	FAM48A_uc010abt.3_Missense_Mutation_p.R233C|FAM48A_uc001uwg.3_Missense_Mutation_p.R232C|FAM48A_uc001uwh.3_Missense_Mutation_p.R233C|FAM48A_uc001uwi.3_Missense_Mutation_p.R232C|FAM48A_uc001uwj.3_Missense_Mutation_p.R233C|FAM48A_uc010tes.1_Missense_Mutation_p.R220C|FAM48A_uc001uwl.1_Missense_Mutation_p.R232C	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	232					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TTCATTGGGCGAGTGTTCATC	0.428													A	37607599	G	A	37607599	3	1	52	1	0	0	0	0	1	0	0	0	5572	1058	37	2	1713	2	FAM48A	13	37607599	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08		37607599	77562279	45	3217											
RBM25	58517	broad.mit.edu	37	14	73578261	73578261	+	Silent	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:73578261T>C	uc010ttu.2	+	16	2319	c.2043T>C	c.(2041-2043)ccT>ccC	p.P681P	RBM25_uc001xno.3_Silent_p.P681P|RBM25_uc001xnp.3_Silent_p.P476P	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	681					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGGTCAGCCTAATTCTGTGA	0.388													C	73578261	T	C	73578261	2	2	52	1	0	0	0	0	0	0	0	1	13125	1509	53	4		4	RBM25	14	73578261	Silent	SNP	T	TCGA-06-0644-01A-02D-1492-08		73578261	33771279	46	3218											
EML5	161436	broad.mit.edu	37	14	89084607	89084607	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:89084607G>A	uc021ryf.1	-	39	5856	c.5607C>T	c.(5605-5607)gcC>gcT	p.A1869A	EML5_uc001xxf.3_Silent_p.A656A|EML5_uc021ryg.1_Silent_p.A1869A|EML5_uc001xxd.3_Silent_p.A34A|EML5_uc001xxe.3_Silent_p.A218A	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1861						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTCAATAGCGGCATGATCCA	0.378													A	89084607	G	A	89084607	2	1	52	1	0	0	0	0	0	0	0	1	5100	1103	39	2		2	EML5	14	89084607	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	15506346	89084607	18264933	47	3219											
SERPINA1	5265	broad.mit.edu	37	14	94847444	94847444	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:94847444G>A	uc001ycy.4	-	4	1235	c.681C>T	c.(679-681)acC>acT	p.T227T	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.T227T|SERPINA1_uc010auy.3_Silent_p.T227T|SERPINA1_uc001ycz.4_Silent_p.T227T|SERPINA1_uc010auz.3_Silent_p.T227T|SERPINA1_uc010ava.3_Silent_p.T227T|SERPINA1_uc001ydb.4_Silent_p.T227T|SERPINA1_uc010avb.3_Silent_p.T227T|SERPINA1_uc001ydc.4_Silent_p.T227T|SERPINA1_uc010auw.3_Silent_p.T227T|SERPINA1_uc010aux.3_Silent_p.T227T|SERPINA1_uc001yda.1_Silent_p.T227T	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	227					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CCTCTTCCTCGGTGTCCTTGA	0.517													A	94847444	G	A	94847444	2	1	52	1	0	0	0	0	0	0	0	1	14086	1103	39	2		2	SERPINA1	14	94847444	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	5762837	94847444	12502096	48	3220											
HHIPL1	84439	broad.mit.edu	37	14	100118715	100118715	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:100118715C>T	uc010avs.3	+	1	475	c.410C>T	c.(409-411)gCg>gTg	p.A137V	HHIPL1_uc001ygl.1_Missense_Mutation_p.A137V	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	137					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGCTCTGGGCGCTGGAGGGC	0.602													T	100118715	C	T	100118715	3	4	52	1	0	0	0	0	1	0	0	0	7093	768	27	1	416	1	HHIPL1	14	100118715	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	5271271	100118715	7230825	49	3221											
EIF2AK4	440275	broad.mit.edu	37	15	40247830	40247830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:40247830G>T	uc001zkm.1	+	5	654	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	EIF2AK4_uc001zkl.3_Nonsense_Mutation_p.E202*|EIF2AK4_uc010bbj.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	202					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GGAACGTTTGGAAATTGCTAG	0.378													T	40247830	G	T	40247830	4	4	52	1	0	0	0	0	0	1	0	0	4999	1175	41	5	626	5	EIF2AK4	15	40247830	Nonsense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08		40247830	62283562	50	3222											
SPTBN5	51332	broad.mit.edu	37	15	42167085	42167085	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:42167085G>A	uc001zos.3	-	22	4685	c.4352C>T	c.(4351-4353)gCc>gTc	p.A1451V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1486					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGGGAGGCGGCCATGCCATG	0.632													A	42167085	G	A	42167085	3	1	52	1	0	0	0	0	1	0	0	0	15121	1203	42	3	6751	3	SPTBN5	15	42167085	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	1919255	42167085	60364307	51	3223											
PIAS1	8554	broad.mit.edu	37	15	68468841	68468841	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:68468841G>T	uc002aqz.3	+	10	1423	c.1330G>T	c.(1330-1332)Gta>Tta	p.V444L		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	444					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GGAGCATCAGGTAGCGTCTCA	0.423													T	68468841	G	T	68468841	3	4	52	1	0	0	0	0	1	0	0	0	11875	1261	44	5	1372	5	PIAS1	15	68468841	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	26301756	68468841	34062551	52	3224											
CDYL2	124359	broad.mit.edu	37	16	80718568	80718568	+	Silent	SNP	G	G	A	rs149557557		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr16:80718568G>A	uc002ffs.3	-	1	588	c.483C>T	c.(481-483)gcC>gcT	p.A161A		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	161						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTCAGAGCCGGCGTCCCCAT	0.512													A	80718568	G	A	80718568	2	1	52	1	0	0	0	0	0	0	0	1	3186	1103	39	2		2	CDYL2	16	80718568	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		80718568	9636185	53	3225											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			C	7578190	T	C	7578190	3	2	52	1	0	0	0	0	1	0	0	0	16378	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		7578190	73617020	54	3226											
ABCA10	10349	broad.mit.edu	37	17	67148603	67148603	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr17:67148603C>T	uc010dfa.1	-	35	5035	c.4156G>A	c.(4156-4158)Gtt>Att	p.V1386I	ABCA10_uc002jhz.3_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.V378I|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1386	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			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)					TTGTTTTTAACGGTAGCCTGA	0.423													T	67148603	C	T	67148603	3	4	52	1	0	0	0	0	1	0	0	0	29	536	19	1	495	1	ABCA10	17	67148603	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	59570413	67148603	14046607	55	3227											
MYOM1	8736	broad.mit.edu	37	18	3134669	3134669	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr18:3134669T>C	uc002klp.3	-	15	2697	c.2363A>G	c.(2362-2364)aAc>aGc	p.N788S	MYOM1_uc002klq.3_Missense_Mutation_p.N788S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	788	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			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						CACGGGGTTGTTGTTACAGGG	0.577													C	3134669	T	C	3134669	3	2	52	1	0	0	0	0	1	0	0	0	10091	1725	60	4	2786	4	MYOM1	18	3134669	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		3134669	74942579	56	3228											
CDH7	1005	broad.mit.edu	37	18	63477003	63477003	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr18:63477003A>G	uc002lkb.3	+	2	700	c.274A>G	c.(274-276)Agt>Ggt	p.S92G	CDH7_uc002ljz.3_Missense_Mutation_p.S92G|CDH7_uc002lka.3_Missense_Mutation_p.S92G	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	92	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAAGGGGCAAGTTCCATTTT	0.448													G	63477003	A	G	63477003	3	3	52	1	0	0	0	0	1	0	0	0	3115	72	3	4	280	4	CDH7	18	63477003	Missense_Mutation	SNP	A	TCGA-06-0644-01A-02D-1492-08	60342334	63477003	14600245	57	3229											
REXO1	57455	broad.mit.edu	37	19	1816329	1816329	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:1816329C>T	uc002lua.4	-	14	3567	c.3472G>A	c.(3472-3474)Gtg>Atg	p.V1158M	REXO1_uc010dsq.3_Missense_Mutation_p.V467M|REXO1_uc010xgs.1_Missense_Mutation_p.V144M|REXO1_uc021umm.1_5'Flank	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	1158	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GTGTCCACCACGGTGCTGTGG	0.682													T	1816329	C	T	1816329	3	4	52	1	0	0	0	0	1	0	0	0	13241	536	19	1	201	1	REXO1	19	1816329	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		1816329	57312654	58	3230											
OR2Z1	284383	broad.mit.edu	37	19	8841802	8841802	+	Missense_Mutation	SNP	C	C	T	rs58741481	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:8841802C>T	uc010xkg.2	+	0	412	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	138			R -> C (in dbSNP:rs58741481).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTATGAGACGCCAGGTATG	0.557													T	8841802	C	T	8841802	3	4	52	1	0	0	0	0	1	0	0	0	11036	536	19	1	414	1	OR2Z1	19	8841802	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	7025473	8841802	50287181	59	3231											
SARS2	54938	broad.mit.edu	37	19	39408375	39408375	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:39408375G>A	uc010xup.1	-	12	1315	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G	SARS2_uc002ojz.2_Silent_p.G193G|SARS2_uc002oka.2_Silent_p.G383G|SARS2_uc010xuq.1_Silent_p.G383G|SARS2_uc010xur.1_Non-coding_Transcript	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	383					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGAAGTGCAAGCCCAGCTCTG	0.627													A	39408375	G	A	39408375	2	1	52	1	0	0	0	0	0	0	0	1	13845	958	34	3		3	SARS2	19	39408375	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	30566573	39408375	19720608	60	3232											
IL4I1	259307	broad.mit.edu	37	19	50397588	50397588	+	Silent	SNP	G	G	A	rs145616852	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:50397588G>A	uc002pqv.2	-	7	1360	c.531C>T	c.(529-531)taC>taT	p.Y177Y	IL4I1_uc002pqt.1_Silent_p.Y168Y|IL4I1_uc021uxy.1_Silent_p.Y190Y|IL4I1_uc002pqu.2_Silent_p.Y190Y|IL4I1_uc010eno.2_Silent_p.Y176Y	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	168						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GACGCAAGGCGTAGCCCAGCT	0.602													A	50397588	G	A	50397588	2	1	52	1	0	0	0	0	0	0	0	1	7697	1140	40	1		1	IL4I1	19	50397588	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	10989213	50397588	8731395	61	3233											
ZNF667	63934	broad.mit.edu	37	19	56953533	56953533	+	Silent	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:56953533T>C	uc002qne.3	-	6	1622	c.831A>G	c.(829-831)ggA>ggG	p.G277G	ZNF667_uc010etl.3_Silent_p.G59G|ZNF667_uc002qnd.3_Silent_p.G277G|ZNF667_uc010etm.3_Silent_p.G220G	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTGTTTTCTTTCCATTGTGAA	0.348													C	56953533	T	C	56953533	2	2	52	1	0	0	0	0	0	0	0	1	18071	1770	62	4		4	ZNF667	19	56953533	Silent	SNP	T	TCGA-06-0644-01A-02D-1492-08	6555945	56953533	2175450	62	3234											
ZNF134	7693	broad.mit.edu	37	19	58131796	58131796	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:58131796G>A	uc002qpn.2	+	2	408	c.309G>A	c.(307-309)gaG>gaA	p.E103E	ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	Homo sapiens zinc finger protein 134 (ZNF134), mRNA.	103						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACAGTATAGAGCAACCCTTAA	0.458													A	58131796	G	A	58131796	2	1	52	1	0	0	0	0	0	0	0	1	17721	962	34	3		3	ZNF134	19	58131796	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	1178263	58131796	997187	63	3235											
PTPRT	11122	broad.mit.edu	37	20	41306674	41306674	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr20:41306674T>C	uc002xkg.3	-	6	1169	c.985A>G	c.(985-987)Acc>Gcc	p.T329A	PTPRT_uc010ggj.3_Missense_Mutation_p.T329A	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	329	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R328C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTGTGGTGGTGCGATATTCC	0.557													C	41306674	T	C	41306674	3	2	52	1	0	0	0	0	1	0	0	0	12812	1696	59	4	3501	4	PTPRT	20	41306674	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		41306674	21718846	64	3236											
OLIG2	10215	broad.mit.edu	37	21	34399532	34399532	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr21:34399532T>A	uc002yqx.2	+	1	543	c.362T>A	c.(361-363)aTg>aAg	p.M121K	OLIG2_uc021wil.1_Missense_Mutation_p.M121K	NM_005806	NP_005797	Q13516	OLIG2_HUMAN	Homo sapiens oligodendrocyte lineage transcription factor 2 (OLIG2), mRNA.	121	Helix-loop-helix motif.					cytoplasm|nucleus|plasma membrane	DNA binding			breast(1)|central_nervous_system(2)	3						CGCAAGCGCATGCACGACCTC	0.622			T	TRA@	T-ALL								A	34399532	T	A	34399532	3	1	52	1	0	0	0	0	1	0	0	0	10861	1464	51	5	364	5	OLIG2	21	34399532	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		34399532	13730363	65	3237											
COL6A2	1292	broad.mit.edu	37	21	47544566	47544566	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr21:47544566C>T	uc002zia.1	+	22	1754	c.1672_splice	c.e22-1	p.A558_splice	COL6A2_uc002zhz.1_Splice_Site_p.A558_splice|COL6A2_uc002zhy.1_Splice_Site_p.A558_splice	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	558	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.A558V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTTCTCAGGCGGATCCTGGT	0.672													T	47544566	C	T	47544566	3	4	52	1	0	0	0	0	1	0	0	0	3700	782	27	1	1755	1	COL6A2	21	47544566	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	13145034	47544566	585329	66	3238											
MXRA5	25878	broad.mit.edu	37	X	3229308	3229308	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:3229308G>A	uc004crg.4	-	6	7093	c.6936C>T	c.(6934-6936)aaC>aaT	p.N2312N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2312	Ig-like C2-type 7.					extracellular region				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)				TCCCCACTTCGTTAAAGTAGA	0.547													A	3229308	G	A	3229308	2	1	52	1	0	0	0	0	0	0	0	1	10003	1136	40	1		1	MXRA5	23	3229308	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		3229308	152041252	67	3239											
TLR8	51311	broad.mit.edu	37	X	12939911	12939911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:12939911G>A	uc004cvd.3	+	2	2976	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.E918K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	918	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			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						CCTTTGTCTAGAGGAGAGGGA	0.443													A	12939911	G	A	12939911	3	1	52	1	0	0	0	0	1	0	0	0	15954	943	33	3	2758	3	TLR8	23	12939911	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	9710603	12939911	142330649	68	3240											
OTUD6A	139562	broad.mit.edu	37	X	69282717	69282717	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:69282717G>C	uc004dxu.1	+	0	377	c.343G>C	c.(343-345)Gct>Cct	p.A115P		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	115										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CATCTTCCAGGCTGAGATGTC	0.617													C	69282717	G	C	69282717	3	2	52	1	0	0	0	0	1	0	0	0	11316	1203	42	5	345	5	OTUD6A	23	69282717	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	56342806	69282717	85987843	69	3241											
CXorf57	55086	broad.mit.edu	37	X	105855511	105855511	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:105855511G>A	uc004emi.4	+	0	352	c.201G>A	c.(199-201)gtG>gtA	p.V67V	CXorf57_uc004emj.4_Silent_p.V67V|CXorf57_uc004emh.2_Silent_p.V67V	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	67										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CGGAGGTGGTGCCTGTAACTG	0.572													A	105855511	G	A	105855511	2	1	52	1	0	0	0	0	0	0	0	1	4113	1306	46	3		3	CXorf57	23	105855511	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	36572794	105855511	49415049	70	3242											
PCDH11Y	83259	broad.mit.edu	37	Y	4967730	4967730	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrY:4967730delT	uc004fqo.3	+	1	2845	c.2111delT	c.(2110-2112)gttfs	p.V704fs	PCDH11Y_uc010nwg.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fql.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqm.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqn.1_Frame_Shift_Del_p.V704fs|PCDH11Y_uc004fqp.1_Frame_Shift_Del_p.V475fs	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	704	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACAAACCAGTTTTCATTGTC	0.403													-	4967730	T	-	4967730	7	5	52	1	0	1	0	1	0	0	0	0	11509	1725	60	0	2153	0	PCDH11Y	24	4967730	Frame_Shift_Del	DEL	T	TCGA-06-0644-01A-02D-1492-08		4967730	54405836	71	3243											
KIAA1751	85452	broad.mit.edu	37	1	1888126	1888126	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:1888126G>A	uc001aim.1	-	16	2105	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	KIAA1751_uc009vkz.1_Missense_Mutation_p.T650M	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	650								p.T650S(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTTGAAAGTCGTGCCCAAGCC	0.582													A	1888126	G	A	1888126	3	1	53	1	0	0	0	0	1	0	0	0	8256	1145	40	1	347	1	KIAA1751	1	1888126	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08		1888126	247362495	1	3244											
TAS1R2	80834	broad.mit.edu	37	1	19166593	19166593	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:19166593G>A	uc001bba.1	-	5	2021	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	674					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			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)	CCCTGGTAGCGGACCCAGTAG	0.572													A	19166593	G	A	19166593	3	1	53	1	0	0	0	0	1	0	0	0	15560	1116	39	2	503	2	TAS1R2	1	19166593	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	17278467	19166593	230084028	2	3245											
GRHL3	57822	broad.mit.edu	37	1	24657929	24657929	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:24657929C>T	uc021oiw.1	+	1	261	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	GRHL3_uc001bix.3_Missense_Mutation_p.R11W|GRHL3_uc021oix.1_5'UTR|GRHL3_uc001biy.3_Missense_Mutation_p.R16W|GRHL3_uc001biz.3_Intron	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	11					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGGTCTGTGCGGCTGCTAAA	0.512													T	24657929	C	T	24657929	3	4	53	1	0	0	0	0	1	0	0	0	6765	759	27	1	73	1	GRHL3	1	24657929	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	5491336	24657929	224592692	3	3246											
KPRP	448834	broad.mit.edu	37	1	152732729	152732729	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:152732729G>A	uc001fal.1	+	1	723	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	KPRP_uc021ozf.1_Missense_Mutation_p.R222Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	222						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGTATCGGTCCCGGACT	0.582													A	152732729	G	A	152732729	3	1	53	1	0	0	0	0	1	0	0	0	8436	1116	39	2	667	2	KPRP	1	152732729	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	128074800	152732729	96517892	4	3247											
OR2L8	391190	broad.mit.edu	37	1	248112496	248112496	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:248112496C>A	uc001idt.1	+	0	337	c.337C>A	c.(337-339)Ctt>Att	p.L113I	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			AGAAGCACTACTTTTGGCATC	0.443													A	248112496	C	A	248112496	3	1	53	1	0	0	0	0	1	0	0	0	11009	565	20	5	339	5	OR2L8	1	248112496	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	95379767	248112496	1138125	5	3248											
EHD3	30845	broad.mit.edu	37	2	31483602	31483602	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:31483602C>T	uc002rnu.3	+	3	1337	c.729C>T	c.(727-729)atC>atT	p.I243I	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	243					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			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGGGGAAGATCGTGAACACCC	0.592													T	31483602	C	T	31483602	2	4	53	1	0	0	0	0	0	0	0	1	4979	874	31	2		2	EHD3	2	31483602	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08		31483602	211715771	6	3249											
SLC35F5	80255	broad.mit.edu	37	2	114489225	114489225	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:114489225G>T	uc002tku.1	-	10	1335	c.921_splice	c.e10-1	p.S307_splice	SLC35F5_uc002tkt.3_Splice_Site	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	307	DUF6.				transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CGCCTCCAATGCTATGAGAAT	0.373													T	114489225	G	T	114489225	3	4	53	1	0	0	0	0	1	0	0	0	14592	1333	46	5	674	5	SLC35F5	2	114489225	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	83005623	114489225	128710148	7	3250											
GCA	25801	broad.mit.edu	37	2	163204201	163204201	+	Silent	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:163204201T>C	uc002ucg.3	+	1	317	c.141T>C	c.(139-141)taT>taC	p.Y47Y		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	47					cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CAGACACTTATTCCTCAGCTG	0.443													C	163204201	T	C	163204201	2	2	53	1	0	0	0	0	0	0	0	1	6283	1500	52	4		4	GCA	2	163204201	Silent	SNP	T	TCGA-06-0645-01A-01D-1492-08	48714976	163204201	79995172	8	3251											
ITGA4	3676	broad.mit.edu	37	2	182374515	182374515	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:182374515A>C	uc002unu.3	+	15	2589	c.1826A>C	c.(1825-1827)aAa>aCa	p.K609T	ITGA4_uc010frj.1_Missense_Mutation_p.K91T	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	609					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGAAAGAAAAAGACATAATG	0.333													C	182374515	A	C	182374515	3	2	53	1	0	0	0	0	1	0	0	0	7878	14	1	5	1888	5	ITGA4	2	182374515	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	19170314	182374515	60824858	9	3252											
COL4A4	1286	broad.mit.edu	37	2	227924195	227924195	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:227924195G>A	uc021vxr.1	-	26	2410	c.2309C>T	c.(2308-2310)cCg>cTg	p.P770L	COL4A4_uc021vxs.1_Missense_Mutation_p.P770L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	770	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCTTTCCCGGGGGTCCCAG	0.612													A	227924195	G	A	227924195	3	1	53	1	0	0	0	0	1	0	0	0	3693	1116	39	2	2847	2	COL4A4	2	227924195	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	45549680	227924195	15275178	10	3253											
LTF	4057	broad.mit.edu	37	3	46490484	46490484	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:46490484C>T	uc003cpq.3	-	8	1323	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	LTF_uc003fzr.3_Missense_Mutation_p.R317H|LTF_uc010hjh.3_Missense_Mutation_p.R361H|LTF_uc003cpr.3_Missense_Mutation_p.R348H	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	361					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GACCCGCGCACGCCGGGCAGC	0.667													T	46490484	C	T	46490484	3	4	53	1	0	0	0	0	1	0	0	0	9079	536	19	1	1086	1	LTF	3	46490484	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		46490484	151531946	11	3254											
DHX30	22907	broad.mit.edu	37	3	47890010	47890010	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:47890010G>A	uc003cru.3	+	15	2971	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N	DHX30_uc003crt.3_Missense_Mutation_p.D810N|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	849						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAAGGCAGTGGACGAGGCTGT	0.622													A	47890010	G	A	47890010	3	1	53	1	0	0	0	0	1	0	0	0	4504	1174	41	3	2610	3	DHX30	3	47890010	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	1399526	47890010	150132420	12	3255											
IFRD2	7866	broad.mit.edu	37	3	50327467	50327467	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:50327467C>G	uc003czb.3	-	7	937	c.937G>C	c.(937-939)Gtg>Ctg	p.V313L	IFRD2_uc011bdp.2_Missense_Mutation_p.V211L	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	211							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCCAGCTGCACGCAGAGCAGG	0.637													G	50327467	C	G	50327467	3	3	53	1	0	0	0	0	1	0	0	0	7554	536	19	5	921	5	IFRD2	3	50327467	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	2437457	50327467	147694963	13	3256											
GPR15	2838	broad.mit.edu	37	3	98251667	98251667	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:98251667G>A	uc011bgy.2	+	0	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	264						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			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)		CAAGTTCCTGGCCATTGTCTC	0.453													A	98251667	G	A	98251667	3	1	53	1	0	0	0	0	1	0	0	0	6655	1203	42	3	792	3	GPR15	3	98251667	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	47924200	98251667	99770763	14	3257											
TRPC1	7220	broad.mit.edu	37	3	142524983	142524983	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:142524983A>G	uc003evc.3	+	12	2424	c.2288A>G	c.(2287-2289)gAa>gGa	p.E763G	TRPC1_uc003evb.3_Missense_Mutation_p.E729G	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	763					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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AATCTAAACGAACTGCGCCAA	0.373													G	142524983	A	G	142524983	3	3	53	1	0	0	0	0	1	0	0	0	16575	246	9	4	2232	4	TRPC1	3	142524983	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	44273316	142524983	55497447	15	3258											
CPZ	8532	broad.mit.edu	37	4	8605806	8605806	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:8605806G>A	uc003glm.3	+	3	774	c.600G>A	c.(598-600)acG>acA	p.T200T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T189T|CPZ_uc003gln.3_Silent_p.T63T	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	200				T -> M (in Ref. 4; BC006393).	proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAGGCGGACGGCCTCCCGCT	0.701													A	8605806	G	A	8605806	2	1	53	1	0	0	0	0	0	0	0	1	3839	1103	39	2		2	CPZ	4	8605806	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		8605806	182548470	16	3259											
FRAS1	80144	broad.mit.edu	37	4	79366682	79366682	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:79366682G>A	uc003hlb.2	+	41	6112	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	FRAS1_uc003hkw.3_Missense_Mutation_p.R1891H|FRAS1_uc010ijj.2_Missense_Mutation_p.R311H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1890					cell communication	integral to membrane|plasma membrane	metal ion binding			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						GCAGGTGATCGTTTTGGCCCT	0.393													A	79366682	G	A	79366682	3	1	53	1	0	0	0	0	1	0	0	0	6042	1145	40	1	5838	1	FRAS1	4	79366682	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	70760876	79366682	111787594	17	3260											
ALPK1	80216	broad.mit.edu	37	4	113351620	113351620	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:113351620G>T	uc003ian.4	+	10	1144	c.917G>T	c.(916-918)tGt>tTt	p.C306F	ALPK1_uc003iap.4_Missense_Mutation_p.C306F|ALPK1_uc011cfx.2_Missense_Mutation_p.C228F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.C134F	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	306							ATP binding|protein serine/threonine kinase activity	p.T305T(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)		CGTGGCACGTGTTTATTGTCC	0.398													T	113351620	G	T	113351620	3	4	53	1	0	0	0	0	1	0	0	0	544	1377	48	5	951	5	ALPK1	4	113351620	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	33984938	113351620	77802656	18	3261											
PRSS48	345062	broad.mit.edu	37	4	152203364	152203364	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:152203364C>T	uc011cif.2	+	2	280	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PRSS48_uc011cig.2_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CTCAAGGAAACGTGTGAAGTA	0.473													T	152203364	C	T	152203364	3	4	53	1	0	0	0	0	1	0	0	0	12630	536	19	1	290	1	PRSS48	4	152203364	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	38851744	152203364	38950912	19	3262											
CDH18	1016	broad.mit.edu	37	5	19520782	19520782	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:19520782T>A	uc003jgd.3	-	9	2030	c.1496A>T	c.(1495-1497)aAt>aTt	p.N499I	CDH18_uc011cnm.2_Missense_Mutation_p.N499I|CDH18_uc003jgc.3_Missense_Mutation_p.N499I|CDH18_uc021xwu.1_Missense_Mutation_p.N499I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	499	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGGCTTAGAATTTTCACATAC	0.393													A	19520782	T	A	19520782	3	1	53	1	0	0	0	0	1	0	0	0	3103	1493	52	5	892	5	CDH18	5	19520782	Missense_Mutation	SNP	T	TCGA-06-0645-01A-01D-1492-08		19520782	161394478	20	3263											
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:41382221C>T	uc003jmm.1	-	1	621	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428													T	41382221	C	T	41382221	2	4	53	1	0	0	0	0	0	0	0	1	12043	871	31	2		2	PLCXD3	5	41382221	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	21861439	41382221	139533039	21	3264											
FGF18	8817	broad.mit.edu	37	5	170883763	170883763	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:170883763C>T	uc003mbk.3	+	4	1115	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	193					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGTACACGACGGTGACCAAG	0.657													T	170883763	C	T	170883763	3	4	53	1	0	0	0	0	1	0	0	0	5846	536	19	1	596	1	FGF18	5	170883763	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	129501542	170883763	10031497	22	3265											
BCLAF1	9774	broad.mit.edu	37	6	136600997	136600997	+	Missense_Mutation	SNP	C	C	T	rs148729378	byFrequency	TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:136600997C>T	uc003qgx.1	-	2	261	c.8G>A	c.(7-9)cGc>cAc	p.R3H	BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	3					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R3H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAATTGGAGCGACCCATTTC	0.308													T	136600997	C	T	136600997	3	4	53	1	0	0	0	0	1	0	0	0	1383	768	27	1	2798	1	BCLAF1	6	136600997	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		136600997	34514070	23	3266											
ESR1	2099	broad.mit.edu	37	6	152265483	152265483	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:152265483C>T	uc010kio.3	+	4	1160	c.942C>T	c.(940-942)gcC>gcT	p.A314A	ESR1_uc003qom.4_Silent_p.A312A|ESR1_uc010kin.3_Silent_p.A312A|ESR1_uc010kip.3_Silent_p.A311A|ESR1_uc003qon.4_Silent_p.A312A|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Silent_p.A312A|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Intron|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Silent_p.A93A|ESR1_uc010kit.1_Silent_p.A49A|ESR1_uc011eey.2_Silent_p.A49A	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	312	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.A312A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CCCTGACGGCCGACCAGATGG	0.547													T	152265483	C	T	152265483	2	4	53	1	0	0	0	0	0	0	0	1	5256	639	23	2		2	ESR1	6	152265483	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	15664486	152265483	18849584	24	3267											
SYNE1	23345	broad.mit.edu	37	6	152461284	152461284	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:152461284C>T	uc021zhb.1	-	137	25482	c.25259G>A	c.(25258-25260)cGa>cAa	p.R8420Q	SYNE1_uc003qos.4_Missense_Mutation_p.R2944Q|SYNE1_uc003qot.4_Missense_Mutation_p.R8372Q|SYNE1_uc003qou.4_Missense_Mutation_p.R8420Q|SYNE1_uc011eez.2_Missense_Mutation_p.R622Q|SYNE1_uc003qoq.4_Missense_Mutation_p.R622Q|SYNE1_uc003qor.4_Missense_Mutation_p.R1343Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8420					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			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)		AAGCTCCCATCGGTCAATCAC	0.458										HNSCC(10;0.0054)			T	152461284	C	T	152461284	3	4	53	1	0	0	0	0	1	0	0	0	15442	884	31	2	1162	2	SYNE1	6	152461284	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	195801	152461284	18653783	25	3268											
ADAM22	53616	broad.mit.edu	37	7	87795154	87795154	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:87795154G>A	uc003ujn.3	+	23	2299	c.2084G>A	c.(2083-2085)aGt>aAt	p.S695N	ADAM22_uc003ujk.2_Missense_Mutation_p.S695N|ADAM22_uc003ujl.2_Missense_Mutation_p.S695N|ADAM22_uc003ujm.3_Missense_Mutation_p.S695N|ADAM22_uc003ujo.3_Missense_Mutation_p.S695N|ADAM22_uc003ujp.1_Missense_Mutation_p.S747N	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	695	EGF-like.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTTTGCAGTAATGAGCTG	0.368													A	87795154	G	A	87795154	3	1	53	1	0	0	0	0	1	0	0	0	244	1029	36	3	2178	3	ADAM22	7	87795154	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08		87795154	71343509	26	3269											
ZNF3	7551	broad.mit.edu	37	7	99672770	99672770	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:99672770C>G	uc003uss.3	-	1	598	c.280G>C	c.(280-282)Gtg>Ctg	p.V94L	ZNF3_uc003usp.3_Missense_Mutation_p.V87L|ZNF3_uc003usq.3_Missense_Mutation_p.V87L|ZNF3_uc010lgj.3_Missense_Mutation_p.V51L|ZNF3_uc003usr.3_Missense_Mutation_p.V87L|ZNF3_uc003ust.4_Missense_Mutation_p.V87L			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	87	KRAB.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGTGAGAACACATTCCCGTAA	0.458													G	99672770	C	G	99672770	3	3	53	1	0	0	0	0	1	0	0	0	17826	478	17	5	1218	5	ZNF3	7	99672770	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	11877616	99672770	59465893	27	3270											
MUC17	140453	broad.mit.edu	37	7	100674888	100674888	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:100674888C>T	uc003uxp.1	+	2	244	c.191C>T	c.(190-192)gCg>gTg	p.A64V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	64						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					ACAGGTTCTGCGGCAAACACC	0.418													T	100674888	C	T	100674888	3	4	53	1	0	0	0	0	1	0	0	0	9974	768	27	1	201	1	MUC17	7	100674888	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	1002118	100674888	58463775	28	3271											
CCDC136	64753	broad.mit.edu	37	7	128434467	128434469	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:128434467_128434469delGAA	uc003vnv.2	+	1	498_500	c.82_84delGAA	c.(82-84)gaadel	p.E32del	CCDC136_uc003vnu.2_In_Frame_Del_p.E82del	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	32	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						agaagaggtggaagaagaagaag	0.552													-	128434469	GAA	-	128434467	7	5	53	1	0	1	0	1	0	0	0	0	2770	1175	41	0	88	0	CCDC136	7	128434467	In_Frame_Del	DEL	GAA	TCGA-06-0645-01A-01D-1492-08	27759579	128434467	30704196	29	3272											
TAS2R41	259287	broad.mit.edu	37	7	143174982	143174982	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:143174982C>T	uc003wdc.1	+	0	17	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	6					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCAGCACTGACGGCCTTCTTC	0.572													T	143174982	C	T	143174982	3	4	53	1	0	0	0	0	1	0	0	0	15576	536	19	1	19	1	TAS2R41	7	143174982	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	14740515	143174982	15963681	30	3273											
TAS2R41	259287	broad.mit.edu	37	7	143175836	143175836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:143175836C>T	uc003wdc.1	+	0	871	c.871C>T	c.(871-873)Cga>Tga	p.R291*	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	291					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCTCAAGCTTCGAAGCGTGTT	0.502													T	143175836	C	T	143175836	4	4	53	1	0	0	0	0	0	1	0	0	15576	876	31	2	873	2	TAS2R41	7	143175836	Nonsense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	854	143175836	15962827	31	3274											
KCNB2	9312	broad.mit.edu	37	8	73849053	73849053	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:73849053C>T	uc003xzb.3	+	2	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	488					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AATCACCTGTCGCCAAGCCGG	0.527													T	73849053	C	T	73849053	3	4	53	1	0	0	0	0	1	0	0	0	8013	893	31	2	1469	2	KCNB2	8	73849053	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		73849053	72514969	32	3275											
KIAA1429	25962	broad.mit.edu	37	8	95547143	95547143	+	Silent	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:95547143T>C	uc003ygo.2	-	4	479	c.408A>G	c.(406-408)agA>agG	p.R136R	KIAA1429_uc003ygp.3_Silent_p.R136R	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	136					mRNA processing|RNA splicing	nucleus				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)			gtggAGAGTCTCTGTCATGAC	0.448													C	95547143	T	C	95547143	2	2	53	1	0	0	0	0	0	0	0	1	8231	1548	54	4		4	KIAA1429	8	95547143	Silent	SNP	T	TCGA-06-0645-01A-01D-1492-08	21698090	95547143	50816879	33	3276											
PKHD1L1	93035	broad.mit.edu	37	8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:110476724G>A	uc003yne.3	+	48	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2555					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2557N(2)		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)			TCTTCTGAATGATGATGTGAC	0.443										HNSCC(38;0.096)			A	110476724	G	A	110476724	3	1	53	1	0	0	0	0	1	0	0	0	11972	1290	45	3	7857	3	PKHD1L1	8	110476724	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	14929581	110476724	35887298	34	3277											
SLC45A4	57210	broad.mit.edu	37	8	142229845	142229845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:142229845C>T	uc003ywd.1	-	2	669	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	SLC45A4_uc003ywc.1_Missense_Mutation_p.A121T|SLC45A4_uc010meq.1_Missense_Mutation_p.A119T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	172					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTGGCATCGGCGCTGAAGTCC	0.657													T	142229845	C	T	142229845	3	4	53	1	0	0	0	0	1	0	0	0	14643	768	27	1	2059	1	SLC45A4	8	142229845	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	31753121	142229845	4134177	35	3278											
CYLC2	1539	broad.mit.edu	37	9	105767804	105767804	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr9:105767804G>A	uc004bbs.2	+	4	961	c.891G>A	c.(889-891)acG>acA	p.T297T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	297	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.T297T(4)|p.A296A(1)|p.T297M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aggacgccacgaaagatgcca	0.388													A	105767804	G	A	105767804	2	1	53	1	0	0	0	0	0	0	0	1	4142	1045	37	2		2	CYLC2	9	105767804	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		105767804	35445627	36	3279											
SMC3	9126	broad.mit.edu	37	10	112328741	112328741	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:112328741G>C	uc001kze.3	+	1	187	c.61G>C	c.(61-63)Gat>Cat	p.D21H		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	21					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AACAATTGTAGATCCCTTCAG	0.308													C	112328741	G	C	112328741	3	2	53	1	0	0	0	0	1	0	0	0	14784	942	33	5	67	5	SMC3	10	112328741	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08		112328741	23206006	37	3280											
SMC3	9126	broad.mit.edu	37	10	112341821	112341821	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:112341821C>G	uc001kze.3	+	8	814	c.688C>G	c.(688-690)Cag>Gag	p.Q230E		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	230					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CATTTACAATCAGGAACTTAA	0.343													G	112341821	C	G	112341821	3	3	53	1	0	0	0	0	1	0	0	0	14784	827	29	5	722	5	SMC3	10	112341821	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	13080	112341821	23192926	38	3281											
NHLRC2	374354	broad.mit.edu	37	10	115668096	115668096	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:115668096G>A	uc001lax.2	+	10	2223	c.1982G>A	c.(1981-1983)aGt>aAt	p.S661N	NHLRC2_uc001lay.2_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	661					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AACATTTCCAGTCAACCAACA	0.348													A	115668096	G	A	115668096	3	1	53	1	0	0	0	0	1	0	0	0	10406	1029	36	3	2024	3	NHLRC2	10	115668096	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	3326275	115668096	19866651	39	3282											
DAGLA	747	broad.mit.edu	37	11	61490356	61490356	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:61490356C>T	uc001nsa.3	+	3	449	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	111					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGTTCATCTACGCCATCGTGG	0.607													T	61490356	C	T	61490356	2	4	53	1	0	0	0	0	0	0	0	1	4226	547	19	1		1	DAGLA	11	61490356	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08		61490356	73516160	40	3283											
CPT1A	1374	broad.mit.edu	37	11	68579934	68579934	+	Silent	SNP	A	A	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:68579934A>G	uc001oog.4	-	2	422	c.252T>C	c.(250-252)atT>atC	p.I84I	CPT1A_uc001oof.4_Silent_p.I84I	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	84					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			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)	TGATTTTTGCAATTATTCCTA	0.473													G	68579934	A	G	68579934	2	3	53	1	0	0	0	0	0	0	0	1	3831	126	5	4		4	CPT1A	11	68579934	Silent	SNP	A	TCGA-06-0645-01A-01D-1492-08	7089578	68579934	66426582	41	3284											
P2RY2	5029	broad.mit.edu	37	11	72945705	72945705	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:72945705C>T	uc021qna.1	+	0	501	c.501C>T	c.(499-501)ccC>ccT	p.P167P	P2RY2_uc001otk.3_Silent_p.P167P|P2RY2_uc001otj.3_Silent_p.P167P|P2RY2_uc001otl.3_Silent_p.P167P	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	167					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCAGGCCCCCGTGCTCTACT	0.721													T	72945705	C	T	72945705	2	4	53	1	0	0	0	0	0	0	0	1	11352	639	23	2		2	P2RY2	11	72945705	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	4365771	72945705	62060811	42	3285											
ST14	6768	broad.mit.edu	37	11	130069961	130069961	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:130069961C>T	uc001qfw.3	+	15	2116	c.1923C>T	c.(1921-1923)tgC>tgT	p.C641C		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	641	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCACATCTGCGGTGCTTCCC	0.627													T	130069961	C	T	130069961	2	4	53	1	0	0	0	0	0	0	0	1	15210	776	27	1		1	ST14	11	130069961	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	57124256	130069961	4936555	43	3286											
SLC38A2	54407	broad.mit.edu	37	12	46757576	46757576	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:46757576C>T	uc001rpg.3	-	11	1427	c.987G>A	c.(985-987)aaG>aaA	p.K329K	SLC38A2_uc010sli.2_Silent_p.K167K|SLC38A2_uc001rph.3_Silent_p.K229K	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.	329					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAAATGAAATCTTGGACACAT	0.353													T	46757576	C	T	46757576	2	4	53	1	0	0	0	0	0	0	0	1	14604	912	32	3		3	SLC38A2	12	46757576	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08		46757576	87094319	44	3287											
BAZ2A	11176	broad.mit.edu	37	12	57005685	57005685	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:57005685G>A	uc001slq.1	-	5	1681	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	BAZ2A_uc001slp.1_Missense_Mutation_p.S494F|BAZ2A_uc009zow.1_Missense_Mutation_p.S464F	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	496					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTTACGGGAGAGGCTTTTGG	0.542													A	57005685	G	A	57005685	3	1	53	1	0	0	0	0	1	0	0	0	1331	942	33	3	4326	3	BAZ2A	12	57005685	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	10248109	57005685	76846210	45	3288											
ALDH1L2	160428	broad.mit.edu	37	12	105455479	105455479	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:105455479G>T	uc001tlc.3	-	7	1100	c.973C>A	c.(973-975)Cag>Aag	p.Q325K	ALDH1L2_uc009zuo.3_5'UTR|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	325					10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAAAAGTACTGAGAGGCAGGG	0.408													T	105455479	G	T	105455479	3	4	53	1	0	0	0	0	1	0	0	0	495	1299	45	5	1862	5	ALDH1L2	12	105455479	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	48449794	105455479	28396416	46	3289											
TRPV4	59341	broad.mit.edu	37	12	110230485	110230485	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:110230485G>A	uc001tpj.2	-	9	1891	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	TRPV4_uc001tpg.2_Missense_Mutation_p.T565M|TRPV4_uc021rdp.1_Missense_Mutation_p.T539M|TRPV4_uc001tph.2_Missense_Mutation_p.T552M|TRPV4_uc001tpi.2_Missense_Mutation_p.T492M|TRPV4_uc001tpk.2_Missense_Mutation_p.T599M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	599					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.T599T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ATAGGTCCCCGTCAGCTTCAG	0.582													A	110230485	G	A	110230485	3	1	53	1	0	0	0	0	1	0	0	0	16595	1145	40	1	843	1	TRPV4	12	110230485	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	4775006	110230485	23621410	47	3290											
DNAH10	196385	broad.mit.edu	37	12	124330629	124330629	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:124330629C>T	uc001uft.4	+	30	5413	c.5388C>T	c.(5386-5388)taC>taT	p.Y1796Y		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1796	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTACGGCTACGAGTACATGG	0.587													T	124330629	C	T	124330629	2	4	53	1	0	0	0	0	0	0	0	1	4598	547	19	1		1	DNAH10	12	124330629	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	14100144	124330629	9521266	48	3291											
NYNRIN	57523	broad.mit.edu	37	14	24878300	24878300	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr14:24878300C>A	uc001wpf.4	+	3	1618	c.1300C>A	c.(1300-1302)Cca>Aca	p.P434T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	434					DNA integration	integral to membrane	DNA binding			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						AGCTGGTAGACCAGATGGGGG	0.552													A	24878300	C	A	24878300	3	1	53	1	0	0	0	0	1	0	0	0	10796	507	18	5	1310	5	NYNRIN	14	24878300	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		24878300	82471240	49	3292											
PLEK2	26499	broad.mit.edu	37	14	67864439	67864439	+	Silent	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr14:67864439G>T	uc001xjh.1	-	1	199	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	Homo sapiens pleckstrin 2 (PLEK2), mRNA.	49	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GGAGGATCCGGCCCTTGGGAG	0.592													T	67864439	G	T	67864439	2	4	53	1	0	0	0	0	0	0	0	1	12054	1190	42	5		5	PLEK2	14	67864439	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	42986139	67864439	39485101	50	3293											
CHRNB4	1143	broad.mit.edu	37	15	78921872	78921872	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:78921872C>T	uc002bed.1	-	4	887	c.775G>A	c.(775-777)Gac>Aac	p.D259N	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D77N	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	259					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCGCCGCAGTCGGATGGCAGG	0.557													T	78921872	C	T	78921872	3	4	53	1	0	0	0	0	1	0	0	0	3393	884	31	2	729	2	CHRNB4	15	78921872	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		78921872	23609520	51	3294											
RASGRF1	5923	broad.mit.edu	37	15	79292172	79292172	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:79292172C>T	uc002beq.3	-	17	3082	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	RASGRF1_uc002bep.3_Missense_Mutation_p.A887T|RASGRF1_uc010blm.1_Missense_Mutation_p.A812T|RASGRF1_uc002ber.4_Missense_Mutation_p.A887T|RASGRF1_uc010unh.1_Missense_Mutation_p.A298T|RASGRF1_uc002beo.3_Missense_Mutation_p.A119T	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	905					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.A903T(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGGCAGAGGCGGCCGACAAG	0.562													T	79292172	C	T	79292172	3	4	53	1	0	0	0	0	1	0	0	0	13072	768	27	1	1158	1	RASGRF1	15	79292172	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	370300	79292172	23239220	52	3295											
NTRK3	4916	broad.mit.edu	37	15	88576210	88576210	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:88576210A>G	uc002bme.2	-	13	1769	c.1463T>C	c.(1462-1464)aTc>aCc	p.I488T	NTRK3_uc002bmh.2_Missense_Mutation_p.I480T|NTRK3_uc002bmf.2_Missense_Mutation_p.I488T|NTRK3_uc021sua.1_Missense_Mutation_p.I480T|NTRK3_uc010upl.1_Missense_Mutation_p.I390T|NTRK3_uc010bnh.1_Missense_Mutation_p.I480T|NTRK3_uc002bmg.3_Missense_Mutation_p.I488T|NTRK3_uc010bni.2_Non-coding_Transcript	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	488					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.I488T(2)|p.I488I(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGCGTGGTGATGCCGTGGTT	0.607			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			G	88576210	A	G	88576210	3	3	53	1	0	0	0	0	1	0	0	0	10708	333	12	4	1346	4	NTRK3	15	88576210	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	9284038	88576210	13955182	53	3296											
SEPT12	124404	broad.mit.edu	37	16	4834042	4834042	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr16:4834042G>A	uc002cxq.3	-	4	666	c.402C>T	c.(400-402)aaC>aaT	p.N134N	SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	134					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGTATTGCTCGTTGATGTAGC	0.627													A	4834042	G	A	4834042	2	1	53	1	0	0	0	0	0	0	0	1	14062	1136	40	1		1	SEPT12	16	4834042	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		4834042	85520711	54	3297											
IQCK	124152	broad.mit.edu	37	16	19729642	19729642	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr16:19729642G>C	uc002dgr.3	+	1	713	c.14G>C	c.(13-15)cGg>cCg	p.R5P	IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.R5P|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	Homo sapiens IQ motif containing K (IQCK), mRNA.	5										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GCGGCACCGCGGCAAATCCCC	0.692													C	19729642	G	C	19729642	3	2	53	1	0	0	0	0	1	0	0	0	7813	1116	39	5	16	5	IQCK	16	19729642	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	14895600	19729642	70625111	55	3298											
ODF4	146852	broad.mit.edu	37	17	8243550	8243550	+	Missense_Mutation	SNP	C	C	T	rs147153349		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr17:8243550C>T	uc002gle.1	+	0	363	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R61S(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592													T	8243550	C	T	8243550	3	4	53	1	0	0	0	0	1	0	0	0	10833	768	27	1	183	1	ODF4	17	8243550	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		8243550	72951660	56	3299											
RHBDL3	162494	broad.mit.edu	37	17	30632431	30632431	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr17:30632431G>A	uc010csx.1	+						RHBDL3_uc002hhe.1_Missense_Mutation_p.V285I|RHBDL3_uc010csw.1_Missense_Mutation_p.V277I|RHBDL3_uc010csy.1_Missense_Mutation_p.V187I|RHBDL3_uc002hhf.1_Missense_Mutation_p.V187I			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.						proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GTATGCTCTCGTCTCTGCCCA	0.542													A	30632431	G	A	30632431	3	1	53	1	0	0	0	0	1	0	0	0	13323	1145	40	1	879	1	RHBDL3	17	30632431	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	22388881	30632431	50562779	57	3300											
POLRMT	5442	broad.mit.edu	37	19	622950	622950	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:622950C>A	uc002lpf.1	-	6	1382	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	442					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACAGTGCTTTCTCCCATTGGT	0.672													A	622950	C	A	622950	3	1	53	1	0	0	0	0	1	0	0	0	12238	912	32	5	2426	5	POLRMT	19	622950	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		622950	58506033	58	3301											
PODNL1	79883	broad.mit.edu	37	19	14046600	14046600	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:14046600G>A	uc002mxr.3	-	4	723	c.449C>T	c.(448-450)gCg>gTg	p.A150V	PODNL1_uc010xni.2_Missense_Mutation_p.A68V|PODNL1_uc010xnj.2_Missense_Mutation_p.A148V|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	150	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGCCAGATCCGCGACACGGAG	0.667													A	14046600	G	A	14046600	3	1	53	1	0	0	0	0	1	0	0	0	12179	1087	38	1	1105	1	PODNL1	19	14046600	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	13423650	14046600	45082383	59	3302											
EMR2	30817	broad.mit.edu	37	19	14857101	14857101	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:14857101A>C	uc002mzp.1	-	17	2582	c.2126T>G	c.(2125-2127)aTt>aGt	p.I709S	EMR2_uc010dzs.1_Missense_Mutation_p.I168S|EMR2_uc010xnw.1_Missense_Mutation_p.I651S|EMR2_uc002mzo.1_Missense_Mutation_p.I698S|EMR2_uc002mzq.1_Missense_Mutation_p.I649S|EMR2_uc002mzr.1_Missense_Mutation_p.I660S|EMR2_uc002mzs.1_Missense_Mutation_p.I567S|EMR2_uc002mzt.1_Missense_Mutation_p.I605S|EMR2_uc002mzu.1_Missense_Mutation_p.I616S|EMR2_uc010xnx.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	709					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTTTTTCAAAATCCAGAGAGT	0.388													C	14857101	A	C	14857101	3	2	53	1	0	0	0	0	1	0	0	0	5105	101	4	5	361	5	EMR2	19	14857101	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	810501	14857101	44271882	60	3303											
CPAMD8	27151	broad.mit.edu	37	19	17086872	17086872	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:17086872G>A	uc002nfb.3	-	15	2021	c.1989C>T	c.(1987-1989)gtC>gtT	p.V663V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	616						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAACTGCGGCGACGCACACAC	0.597													A	17086872	G	A	17086872	2	1	53	1	0	0	0	0	0	0	0	1	3795	1045	37	2		2	CPAMD8	19	17086872	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	2229771	17086872	42042111	61	3304											
ZFP30	22835	broad.mit.edu	37	19	38126468	38126468	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:38126468G>A	uc002ogv.1	-	5	1490	c.974C>T	c.(973-975)cCc>cTc	p.P325L	ZFP30_uc002ogw.1_Missense_Mutation_p.P325L|ZFP30_uc002ogx.1_Missense_Mutation_p.P325L|ZFP30_uc010xtt.1_Missense_Mutation_p.P324L	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTCATAGGGTTTTTCTCC	0.438													A	38126468	G	A	38126468	3	1	53	1	0	0	0	0	1	0	0	0	17641	1232	43	3	589	3	ZFP30	19	38126468	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	21039596	38126468	21002515	62	3305											
MAP4K1	11184	broad.mit.edu	37	19	39086283	39086283	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:39086283C>T	uc002oix.1	-	27	2374	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M	MAP4K1_uc002oiy.1_Missense_Mutation_p.V756M	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	756	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACAGACCCACGGCCTCCACC	0.622													T	39086283	C	T	39086283	3	4	53	1	0	0	0	0	1	0	0	0	9259	536	19	1	317	1	MAP4K1	19	39086283	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	959815	39086283	20042700	63	3306											
LILRA1	11024	broad.mit.edu	37	19	55107682	55107682	+	Silent	SNP	G	G	A	rs138767008		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:55107682G>A	uc002qgh.1	+	6	1169	c.987G>A	c.(985-987)tcG>tcA	p.S329S	LILRA1_uc010yfg.1_Silent_p.S327S|LILRA1_uc010yfh.2_Silent_p.S329S	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	329	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTTCATCTCGGTGCATCCGG	0.612													A	55107682	G	A	55107682	2	1	53	1	0	0	0	0	0	0	0	1	8784	1103	39	2		2	LILRA1	19	55107682	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	16021399	55107682	4021301	64	3307											
NLRP8	126205	broad.mit.edu	37	19	56466478	56466478	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:56466478G>A	uc002qmh.3	+	2	1125	c.1054G>A	c.(1054-1056)Gta>Ata	p.V352I	NLRP8_uc010etg.3_Missense_Mutation_p.V352I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	352	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCCTCTCTCGTAACCCTTCC	0.458													A	56466478	G	A	56466478	3	1	53	1	0	0	0	0	1	0	0	0	10483	1145	40	1	1064	1	NLRP8	19	56466478	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	1358796	56466478	2662505	65	3308											
CASS4	57091	broad.mit.edu	37	20	55027872	55027872	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr20:55027872T>C	uc002xxp.2	+	5	1865	c.1640T>C	c.(1639-1641)cTt>cCt	p.L547P	CASS4_uc002xxq.4_Missense_Mutation_p.L547P|CASS4_uc010zze.1_Missense_Mutation_p.L493P|CASS4_uc002xxr.2_Missense_Mutation_p.L547P|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	547					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGGAAGTTCTTGTGACTGAC	0.493													C	55027872	T	C	55027872	3	2	53	1	0	0	0	0	1	0	0	0	2683	1609	56	4	1658	4	CASS4	20	55027872	Missense_Mutation	SNP	T	TCGA-06-0645-01A-01D-1492-08		55027872	7997648	66	3309											
TMPRSS15	5651	broad.mit.edu	37	21	19744570	19744570	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr21:19744570A>T	uc002ykw.3	-	5	635	c.604T>A	c.(604-606)Tta>Ata	p.L202I		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	202	LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCACAAAATAAATCAGCTTTT	0.383													T	19744570	A	T	19744570	3	4	53	1	0	0	0	0	1	0	0	0	16243	11	1	5	2535	5	TMPRSS15	21	19744570	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08		19744570	28385325	67	3310											
ICOSLG	23308	broad.mit.edu	37	21	45655287	45655287	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr21:45655287C>T	uc010gpp.1	-	3	699	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	ICOSLG_uc002zef.3_Missense_Mutation_p.V72I|ICOSLG_uc002zee.3_Missense_Mutation_p.V189I|ICOSLG_uc011afc.2_Missense_Mutation_p.V99I	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	189	Ig-like C2-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TTCAAGAAGACGGTGTCATTC	0.552													T	45655287	C	T	45655287	3	4	53	1	0	0	0	0	1	0	0	0	7487	536	19	1	359	1	ICOSLG	21	45655287	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	25910717	45655287	2474608	68	3311											
MAGEB6	158809	broad.mit.edu	37	X	26212572	26212572	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:26212572G>A	uc022buc.1	+	0	609	c.609G>A	c.(607-609)gcG>gcA	p.A203A	MAGEB6_uc004dbr.3_Silent_p.A203A	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	203	MAGE.							p.A203A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCACGTTGGCGCAATTCCTGC	0.478													A	26212572	G	A	26212572	2	1	53	1	0	0	0	0	0	0	0	1	9179	1074	38	1		1	MAGEB6	23	26212572	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		26212572	129057988	69	3312											
FAM70A	55026	broad.mit.edu	37	X	119410833	119410833	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:119410833G>A	uc004eso.4	-	7	881	c.654C>T	c.(652-654)ctC>ctT	p.L218L	FAM70A_uc004esp.4_Silent_p.L194L|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	218						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						GCAGGTGGTAGAGGTGGATGA	0.542													A	119410833	G	A	119410833	2	1	53	1	0	0	0	0	0	0	0	1	5605	929	33	3		3	FAM70A	23	119410833	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	93198261	119410833	35859727	70	3313											
SAGE1	55511	broad.mit.edu	37	X	134986679	134986679	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:134986679C>T	uc004ezh.3	+	3	431	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.2_Silent_p.N88N	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	88										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGATAAATAACGGCCAACCAG	0.443													T	134986679	C	T	134986679	2	4	53	1	0	0	0	0	0	0	0	1	13809	535	19	1		1	SAGE1	23	134986679	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	15575846	134986679	20283881	71	3314											
GPR112	139378	broad.mit.edu	37	X	135430793	135430793	+	Missense_Mutation	SNP	C	C	T	rs146283448		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:135430793C>T	uc004ezu.1	+	5	5219	c.4928C>T	c.(4927-4929)aCg>aTg	p.T1643M	GPR112_uc010nsb.1_Missense_Mutation_p.T1438M|GPR112_uc010nsc.1_Missense_Mutation_p.T1410M	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1643					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1642H(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)					ATCACACCTACGACCTTTCTC	0.468													T	135430793	C	T	135430793	3	4	53	1	0	0	0	0	1	0	0	0	6629	536	19	1	4938	1	GPR112	23	135430793	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	444114	135430793	19839767	72	3315											
DNASE1L1	1774	broad.mit.edu	37	X	153633852	153633852	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:153633852G>A	uc004fks.1	-	1	249	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	DNASE1L1_uc004fkt.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fku.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R20C	NM_006730	NP_006721	P49184	DNSL1_HUMAN	Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.	20					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCAGATGCGAAAGGCCTGG	0.607													A	153633852	G	A	153633852	3	1	53	1	0	0	0	0	1	0	0	0	4661	1058	37	2	878	2	DNASE1L1	23	153633852	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	18203059	153633852	1636708	73	3316											
LCK	3932	broad.mit.edu	37	1	32740011	32740011	+	Silent	SNP	A	A	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:32740011A>T	uc001bux.3	+	1	219	c.81A>T	c.(79-81)atA>atT	p.I27I	LCK_uc001buy.3_Silent_p.I27I|LCK_uc001buz.3_Silent_p.I27I|LCK_uc010ohc.1_Silent_p.I71I|LCK_uc001bva.3_Silent_p.I27I	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	27	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ATTATCCCATAGTCCCACTGG	0.547			T	TRB@	T-ALL								T	32740011	A	T	32740011	2	4	54	1	0	0	0	0	0	0	0	1	8676	410	15	5		5	LCK	1	32740011	Silent	SNP	A	TCGA-06-0646-01A-01D-1492-08		32740011	216510610	1	3317											
AKR1A1	10327	broad.mit.edu	37	1	46027470	46027470	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:46027470G>A	uc021omx.1	+	3	422	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	AKR1A1_uc009vxw.3_Missense_Mutation_p.A2T|AKR1A1_uc021omy.1_Missense_Mutation_p.A2T|AKR1A1_uc001cod.3_Missense_Mutation_p.A2T|AKR1A1_uc001coe.3_Missense_Mutation_p.A2T	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	2					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GGGGGCAATGGCGGCTTCCTG	0.522													A	46027470	G	A	46027470	3	1	54	1	0	0	0	0	1	0	0	0	465	1203	42	3	6	3	AKR1A1	1	46027470	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	13287459	46027470	203223151	2	3318											
CCDC17	149483	broad.mit.edu	37	1	46086575	46086575	+	Silent	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:46086575C>T	uc010olt.2	-	11	1749	c.1599_splice	c.e11+1	p.Q533_splice	CCDC17_uc010ols.2_Splice_Site_p.Q524_splice|CCDC17_uc001com.4_Splice_Site_p.Q354_splice|CCDC17_uc001con.4_Splice_Site|CCDC17_uc009vxz.3_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	Homo sapiens coiled-coil domain containing 17 (CCDC17), transcript variant 1, mRNA.	533										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CCACACTCACCTGAGGAATCC	0.592													T	46086575	C	T	46086575	2	4	54	1	0	0	0	0	0	0	0	1	2793	695	24	3		3	CCDC17	1	46086575	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08	59105	46086575	203164046	3	3319											
CDKN2C	1031	broad.mit.edu	37	1	51436083	51436083	+	Frame_Shift_Del	DEL	A	A	-	rs66765738		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:51436083delA	uc001csf.3	+	1	2018	c.43delA	c.(43-45)aggfs	p.R15fs	CDKN2C_uc001csg.3_Frame_Shift_Del_p.R15fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	15					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.R15fs*4(2)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGCAGCTGCCAGGGGGGACCT	0.468			D		"glioma, MM"								-	51436083	A	-	51436083	7	5	54	1	0	1	0	1	0	0	0	0	3165	179	7	0	45	0	CDKN2C	1	51436083	Frame_Shift_Del	DEL	A	TCGA-06-0646-01A-01D-1492-08	5349508	51436083	197814538	4	3320											
FCRL4	83417	broad.mit.edu	37	1	157556156	157556156	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:157556156C>T	uc001fqw.3	-	5	1073	c.937G>A	c.(937-939)Gct>Act	p.A313T	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	313	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.V312M(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTGCCTTCAGCCACGGAGCAG	0.597													T	157556156	C	T	157556156	3	4	54	1	0	0	0	0	1	0	0	0	5797	739	26	3	638	3	FCRL4	1	157556156	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	106120073	157556156	91694465	5	3321											
FCRL2	79368	broad.mit.edu	37	1	157718679	157718679	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:157718679G>T	uc001fre.2	-	8	1438	c.1379C>A	c.(1378-1380)cCa>cAa	p.P460Q	FCRL2_uc001frd.2_Missense_Mutation_p.P207Q|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Missense_Mutation_p.P176Q	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	460					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			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)			GACATACACTGGCTGCAGCTC	0.502													T	157718679	G	T	157718679	3	4	54	1	0	0	0	0	1	0	0	0	5795	1348	47	5	163	5	FCRL2	1	157718679	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	162523	157718679	91531942	6	3322											
CEP350	9857	broad.mit.edu	37	1	179965731	179965731	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:179965731G>A	uc001gnt.3	+	5	822	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CEP350_uc001gnr.1_Missense_Mutation_p.E121K|CEP350_uc009wxl.2_Missense_Mutation_p.E146K|CEP350_uc001gnu.3_5'UTR	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	147						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCCATCTGGAATCAAAGCA	0.378													A	179965731	G	A	179965731	3	1	54	1	0	0	0	0	1	0	0	0	3254	1175	41	3	457	3	CEP350	1	179965731	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	22247052	179965731	69284890	7	3323											
RYR2	6262	broad.mit.edu	37	1	237802446	237802446	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:237802446G>A	uc001hyl.1	+	45	7180	c.7060G>A	c.(7060-7062)Gcc>Acc	p.A2354T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2354	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			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)			CATCAAAATCGCCGAGGATCC	0.493													A	237802446	G	A	237802446	3	1	54	1	0	0	0	0	1	0	0	0	13769	1087	38	1	7242	1	RYR2	1	237802446	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	57836715	237802446	11448175	8	3324											
CCDC150	284992	broad.mit.edu	37	2	197540931	197540931	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr2:197540931C>T	uc002utp.1	+	10	1337	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_Missense_Mutation_p.A69V	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	401										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAGCCCATGCCAGTATCACA	0.388													T	197540931	C	T	197540931	3	4	54	1	0	0	0	0	1	0	0	0	2785	739	26	3	1244	3	CCDC150	2	197540931	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		197540931	45658442	9	3325											
APPL1	26060	broad.mit.edu	37	3	57302493	57302493	+	Missense_Mutation	SNP	A	A	G	rs144769112		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:57302493A>G	uc003dio.3	+	20	2108	c.1961A>G	c.(1960-1962)aAt>aGt	p.N654S	APPL1_uc011bey.1_Missense_Mutation_p.N637S|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.3_3'UTR	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	654	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		aaagaactcaataaacaaaaa	0.308													G	57302493	A	G	57302493	3	3	54	1	0	0	0	0	1	0	0	0	817	101	4	4	2043	4	APPL1	3	57302493	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08		57302493	140719937	10	3326											
MAGI1	9223	broad.mit.edu	37	3	65342645	65342645	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:65342645G>A	uc003dmn.3	-	22	4323	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L	MAGI1_uc003dmm.3_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1295					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			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)		GCTGCCTTTCGGATCCCTTGC	0.592													A	65342645	G	A	65342645	3	1	54	1	0	0	0	0	1	0	0	0	9190	1116	39	2	595	2	MAGI1	3	65342645	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	8040152	65342645	132679785	11	3327											
TMPRSS7	344805	broad.mit.edu	37	3	111794198	111794198	+	Missense_Mutation	SNP	G	G	A	rs142998665	by1000genomes	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:111794198G>A	uc010hqb.2	+	12	1606	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	TMPRSS7_uc011bhr.1_Missense_Mutation_p.R334H	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	605	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCCCTTCACCGCATCATCGGA	0.537													A	111794198	G	A	111794198	3	1	54	1	0	0	0	0	1	0	0	0	16249	1087	38	1	1482	1	TMPRSS7	3	111794198	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	46451553	111794198	86228232	12	3328											
ABCF3	55324	broad.mit.edu	37	3	183906608	183906608	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:183906608A>G	uc003fmz.2	+	7	1029	c.896A>G	c.(895-897)gAg>gGg	p.E299G	ABCF3_uc003fna.2_Missense_Mutation_p.E293G|ABCF3_uc003fnb.2_5'UTR	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	299	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGGAGATTGAGGCTGACAAG	0.532													G	183906608	A	G	183906608	3	3	54	1	0	0	0	0	1	0	0	0	67	304	11	4	926	4	ABCF3	3	183906608	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08	72112410	183906608	14115822	13	3329											
SORCS2	57537	broad.mit.edu	37	4	7719828	7719828	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:7719828G>A	uc003gkb.4	+	17	2342	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	SORCS2_uc011bwi.2_Missense_Mutation_p.R609Q	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	781						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGCCGCCCCGGGGCCTGCAG	0.652													A	7719828	G	A	7719828	3	1	54	1	0	0	0	0	1	0	0	0	14931	1116	39	2	2412	2	SORCS2	4	7719828	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		7719828	183434448	14	3330											
CLOCK	9575	broad.mit.edu	37	4	56348941	56348941	+	Silent	SNP	G	G	A	rs149959118		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:56348941G>A	uc003haz.1	-	4	938	c.12C>T	c.(10-12)acC>acT	p.T4T	CLOCK_uc003hba.1_Silent_p.T4T	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	4					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TACAGCTTACGGTAAACAACA	0.274													A	56348941	G	A	56348941	2	1	54	1	0	0	0	0	0	0	0	1	3549	1103	39	2		2	CLOCK	4	56348941	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	48629113	56348941	134805335	15	3331											
USP38	84640	broad.mit.edu	37	4	144141519	144141519	+	Silent	SNP	A	A	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:144141519A>T	uc003ijb.3	+	9	3573	c.3039A>T	c.(3037-3039)ggA>ggT	p.G1013G	USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	1013					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGCCCAATGGATTTGATGACA	0.458													T	144141519	A	T	144141519	2	4	54	1	0	0	0	0	0	0	0	1	17066	320	12	5		5	USP38	4	144141519	Silent	SNP	A	TCGA-06-0646-01A-01D-1492-08	87792578	144141519	47012757	16	3332											
PCDHB6	56130	broad.mit.edu	37	5	140532029	140532029	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr5:140532029C>G	uc003lir.3	+	0	2191	c.2191C>G	c.(2191-2193)Cca>Gca	p.P731A		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	731					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTCCCTTTCCAGGGCATCT	0.612													G	140532029	C	G	140532029	3	3	54	1	0	0	0	0	1	0	0	0	11546	855	30	5	2193	5	PCDHB6	5	140532029	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		140532029	40383231	17	3333											
FILIP1	27145	broad.mit.edu	37	6	76063397	76063397	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:76063397G>A	uc010kbe.3	-	4	1026	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	FILIP1_uc003phy.1_Missense_Mutation_p.R163W|FILIP1_uc003phz.3_Missense_Mutation_p.R64W|FILIP1_uc003pia.3_Missense_Mutation_p.R163W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	163										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						AGCATGCGCCGGTAGGTTTCT	0.428													A	76063397	G	A	76063397	3	1	54	1	0	0	0	0	1	0	0	0	5894	1115	39	2	3166	2	FILIP1	6	76063397	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		76063397	95051670	18	3334											
SGK1	6446	broad.mit.edu	37	6	134493370	134493370	+	Silent	SNP	T	T	C			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:134493370T>C	uc003qen.4	-	7	836	c.747A>G	c.(745-747)gaA>gaG	p.E249E	SGK1_uc003qeo.4_Silent_p.E344E|SGK1_uc011ect.2_Silent_p.E239E|SGK1_uc011ecu.2_Silent_p.E205E|SGK1_uc011ecv.2_Silent_p.E263E|SGK1_uc011ecw.2_Silent_p.E277E	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	249	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCTGTTGTGTTCAATGTTCT	0.468													C	134493370	T	C	134493370	2	2	54	1	0	0	0	0	0	0	0	1	14207	1722	60	4		4	SGK1	6	134493370	Silent	SNP	T	TCGA-06-0646-01A-01D-1492-08	58429973	134493370	36621697	19	3335											
LRP11	84918	broad.mit.edu	37	6	150174287	150174287	+	Missense_Mutation	SNP	G	G	A	rs150922217	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:150174287G>A	uc003qng.2	-	1	947	c.623C>T	c.(622-624)gCg>gTg	p.A208V	LRP11_uc003qnh.1_Missense_Mutation_p.A208V	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 11 (LRP11), mRNA.	208						integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AAGTGGAGGCGCATCCTTTTC	0.438													A	150174287	G	A	150174287	3	1	54	1	0	0	0	0	1	0	0	0	8953	1087	38	1	903	1	LRP11	6	150174287	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	15680917	150174287	20940780	20	3336											
SEMA3C	10512	broad.mit.edu	37	7	80433493	80433493	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:80433493A>G	uc011kgw.2	-	7	863	c.784T>C	c.(784-786)Ttc>Ctc	p.F262L	SEMA3C_uc003uhj.3_Missense_Mutation_p.F244L|SEMA3C_uc011kgx.1_Missense_Mutation_p.F96L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	244	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTTCTTTGAAGAAGAAGTAC	0.368													G	80433493	A	G	80433493	3	3	54	1	0	0	0	0	1	0	0	0	14026	72	3	4	1569	4	SEMA3C	7	80433493	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08		80433493	78705170	21	3337											
COL1A2	1278	broad.mit.edu	37	7	94037543	94037543	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:94037543C>T	uc003ung.1	+	13	1159	c.688C>T	c.(688-690)Cca>Tca	p.P230S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	230					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.P230S(2)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCCCCTGGCCCAGCTGTAAG	0.398										HNSCC(75;0.22)			T	94037543	C	T	94037543	3	4	54	1	0	0	0	0	1	0	0	0	3678	623	22	3	742	3	COL1A2	7	94037543	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	13604050	94037543	65101120	22	3338											
TRRAP	8295	broad.mit.edu	37	7	98552870	98552870	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:98552870G>A	uc003upp.3	+	39	6068	c.5859G>A	c.(5857-5859)gaG>gaA	p.E1953E	TRRAP_uc011kis.2_Silent_p.E1935E|TRRAP_uc003upr.3_Silent_p.E1652E	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1953					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E1935E(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGGAGGAGGGGCACACCG	0.642													A	98552870	G	A	98552870	2	1	54	1	0	0	0	0	0	0	0	1	16598	991	35	3		3	TRRAP	7	98552870	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	4515327	98552870	60585793	23	3339											
RELN	5649	broad.mit.edu	37	7	103191709	103191709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:103191709G>A	uc022ajr.1	-	40	6267	c.6107C>T	c.(6106-6108)gCg>gTg	p.A2036V	RELN_uc022ajq.1_Missense_Mutation_p.A2036V|RELN_uc010liz.3_Missense_Mutation_p.A2036V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2036					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			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)		CACTGGATCCGCGGATGAGCT	0.502													A	103191709	G	A	103191709	3	1	54	1	0	0	0	0	1	0	0	0	13220	1087	38	1	4375	1	RELN	7	103191709	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	4638839	103191709	55946954	24	3340											
KEL	3792	broad.mit.edu	37	7	142639989	142639989	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:142639989G>A	uc003wcb.3	-	16	2124	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	638					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)					GCCCCCCAACGTCTGCAGCAT	0.502													A	142639989	G	A	142639989	2	1	54	1	0	0	0	0	0	0	0	1	8142	1136	40	1		1	KEL	7	142639989	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	39448280	142639989	16498674	25	3341											
COL22A1	169044	broad.mit.edu	37	8	139606337	139606337	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr8:139606337C>T	uc003yvd.3	-	62	4985	c.4538G>A	c.(4537-4539)cGg>cAg	p.R1513Q	COL22A1_uc011ljo.2_Missense_Mutation_p.R793Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1513	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R1513Q(2)		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)			GGGGCCGGCCCGGCCTGGAAG	0.662										HNSCC(7;0.00092)			T	139606337	C	T	139606337	3	4	54	1	0	0	0	0	1	0	0	0	3681	652	23	2	354	2	COL22A1	8	139606337	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		139606337	6757685	26	3342											
C5	727	broad.mit.edu	37	9	123745005	123745005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr9:123745005C>T	uc004bkv.3	-	25	3348	c.3318G>A	c.(3316-3318)tgG>tgA	p.W1106*		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1106					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCTCAACTAGCCACAATAAAG	0.299													T	123745005	C	T	123745005	4	4	54	1	0	0	0	0	0	1	0	0	2280	740	26	3	1776	3	C5	9	123745005	Nonsense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		123745005	17468426	27	3343											
PAOX	196743	broad.mit.edu	37	10	135203245	135203245	+	Silent	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr10:135203245C>T	uc001lmv.3	+	5	1466	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	PAOX_uc001lmx.3_Intron|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	600					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	p.G462V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACGGCGCCGGCGCCCAGGTAT	0.741													T	135203245	C	T	135203245	2	4	54	1	0	0	0	0	0	0	0	1	11423	755	27	1		1	PAOX	10	135203245	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08		135203245	331502	28	3344											
POU2AF1	5450	broad.mit.edu	37	11	111225126	111225126	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:111225126A>G	uc001plg.4	-	4	886	c.631T>C	c.(631-633)Tct>Cct	p.S211P		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	211					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TCTGGGATAGAGATGGGGAGC	0.622			T	BCL6	NHL								G	111225126	A	G	111225126	3	3	54	1	0	0	0	0	1	0	0	0	12270	304	11	4	143	4	POU2AF1	11	111225126	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08		111225126	23781390	29	3345											
HYOU1	10525	broad.mit.edu	37	11	118919049	118919049	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:118919049delA	uc001puu.2	-	19	2480	c.2287delT	c.(2287-2289)tccfs	p.S763fs	HYOU1_uc001put.2_Frame_Shift_Del_p.S728fs|HYOU1_uc010ryu.1_Frame_Shift_Del_p.S721fs|HYOU1_uc010ryv.1_Frame_Shift_Del_p.S652fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.S763fs|HYOU1_uc010ryw.2_Non-coding_Transcript	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	763						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCCTCTGTGGACACTTCCTGG	0.617													-	118919049	A	-	118919049	7	5	54	1	0	1	0	1	0	0	0	0	7470	275	10	0	740	0	HYOU1	11	118919049	Frame_Shift_Del	DEL	A	TCGA-06-0646-01A-01D-1492-08	7693923	118919049	16087467	30	3346											
CHEK1	1111	broad.mit.edu	37	11	125505406	125505406	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:125505406A>T	uc009zbo.3	+	6	1593	c.696A>T	c.(694-696)aaA>aaT	p.K232N	CHEK1_uc010sbi.2_Missense_Mutation_p.K232N|CHEK1_uc010sbh.2_Missense_Mutation_p.K248N|CHEK1_uc001qcf.4_Missense_Mutation_p.K232N|CHEK1_uc009zbp.3_Missense_Mutation_p.K232N|CHEK1_uc001qcg.4_Missense_Mutation_p.K232N	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	232	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		ACCCTTGGAAAAAAATCGATT	0.373								Other conserved DNA damage response genes					T	125505406	A	T	125505406	3	4	54	1	0	0	0	0	1	0	0	0	3334	11	1	5	718	5	CHEK1	11	125505406	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08	6586357	125505406	9501110	31	3347											
ETNK1	55500	broad.mit.edu	37	12	22778163	22778163	+	Silent	SNP	C	C	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr12:22778163C>G	uc001rft.3	+	0	88	c.66C>G	c.(64-66)ctC>ctG	p.L22L	ETNK1_uc009ziz.3_Silent_p.L22L|ETNK1_uc001rfs.3_Silent_p.L22L	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	22					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGCCGGGCTCAGTTCAGCTG	0.726													G	22778163	C	G	22778163	2	3	54	1	0	0	0	0	0	0	0	1	5273	813	29	5		5	ETNK1	12	22778163	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08		22778163	111073732	32	3348											
TMTC1	83857	broad.mit.edu	37	12	29757135	29757135	+	Missense_Mutation	SNP	G	G	A	rs144467040		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr12:29757135G>A	uc021qwi.1	-	6	1285	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	TMTC1_uc001riz.3_Missense_Mutation_p.A58V|TMTC1_uc001rja.3_Missense_Mutation_p.A145V|TMTC1_uc001rjb.3_Missense_Mutation_p.A301V|TMTC1_uc001rjc.1_Missense_Mutation_p.A363V	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	409						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GACTCTCTCCGCCACCACAAA	0.507													A	29757135	G	A	29757135	3	1	54	1	0	0	0	0	1	0	0	0	16257	1087	38	1	1470	1	TMTC1	12	29757135	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	6978972	29757135	104094760	33	3349											
MAPK1IP1L	93487	broad.mit.edu	37	14	55529424	55529424	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr14:55529424G>T	uc001xbq.1	+	2	271	c.107G>T	c.(106-108)gGc>gTc	p.G36V		NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA.	36	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						GGCTGGCCAGGCTCCAACCCT	0.537													T	55529424	G	T	55529424	3	4	54	1	0	0	0	0	1	0	0	0	9278	1203	42	5	113	5	MAPK1IP1L	14	55529424	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		55529424	51820116	34	3350											
ZNF174	7727	broad.mit.edu	37	16	3458844	3458844	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:3458844G>A	uc002cvc.3	+	2	1964	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q		NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	383					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AGCCATACCAGTGTGGCCAGT	0.542													A	3458844	G	A	3458844	2	1	54	1	0	0	0	0	0	0	0	1	17741	1020	36	3		3	ZNF174	16	3458844	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08		3458844	86895909	35	3351											
FUS	2521	broad.mit.edu	37	16	31202308	31202308	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:31202308G>A	uc002ebf.3	+	13	1523	c.1418G>A	c.(1417-1419)cGt>cAt	p.R473H	FUS_uc002ebe.2_Missense_Mutation_p.R469H|FUS_uc002ebg.3_Missense_Mutation_p.R268H|FUS_uc002ebh.3_Missense_Mutation_p.R472H	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	473	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATGATCGTCGTGGTGGCAGA	0.602			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								A	31202308	G	A	31202308	3	1	54	1	0	0	0	0	1	0	0	0	6100	1145	40	1	1472	1	FUS	16	31202308	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	27743464	31202308	59152445	36	3352											
PDPR	55066	broad.mit.edu	37	16	70190589	70190589	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:70190589T>G	uc002eyf.1	+	18	3404	c.2447T>G	c.(2446-2448)tTt>tGt	p.F816C	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.F716C|PDPR_uc002eyg.1_Missense_Mutation_p.F483C|PDPR_uc002eyh.2_Missense_Mutation_p.F161C|PDPR_uc010vls.1_Missense_Mutation_p.F161C|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	816					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGCCTGGGCTTTGTGCACAAT	0.552													G	70190589	T	G	70190589	3	3	54	1	0	0	0	0	1	0	0	0	11689	1841	64	5	2513	5	PDPR	16	70190589	Missense_Mutation	SNP	T	TCGA-06-0646-01A-01D-1492-08	38988281	70190589	20164164	37	3353											
MON1B	22879	broad.mit.edu	37	16	77229553	77229553	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:77229553G>A	uc002fez.3	+	4	1747	c.1417G>A	c.(1417-1419)Gct>Act	p.A473T	MON1B_uc010vnf.2_Missense_Mutation_p.A364T|MON1B_uc010vng.2_Missense_Mutation_p.A327T|MON1B_uc002ffa.3_Missense_Mutation_p.A353T	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	473							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TTACCACGTGGCTGAGAAGGA	0.587													A	77229553	G	A	77229553	3	1	54	1	0	0	0	0	1	0	0	0	9699	1203	42	3	1431	3	MON1B	16	77229553	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	7038964	77229553	13125200	38	3354											
USP6	9098	broad.mit.edu	37	17	5042663	5042663	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:5042663C>T	uc002gau.1	+	21	3422	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	USP6_uc002gav.1_Missense_Mutation_p.R398W|USP6_uc010ckz.1_Missense_Mutation_p.R81W|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	398					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAGTTCCAGCGGCCCATTTG	0.657			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								T	5042663	C	T	5042663	3	4	54	1	0	0	0	0	1	0	0	0	17083	759	27	1	1242	1	USP6	17	5042663	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		5042663	76152547	39	3355											
MKS1	54903	broad.mit.edu	37	17	56288050	56288050	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:56288050C>T	uc002ivr.2	-	10	1069	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	MKS1_uc010wnq.2_Missense_Mutation_p.V129I|MKS1_uc021uam.1_Missense_Mutation_p.V322I	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	332	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAAGTGGACGTAGAGATTG	0.423													T	56288050	C	T	56288050	3	4	54	1	0	0	0	0	1	0	0	0	9609	536	19	1	717	1	MKS1	17	56288050	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	51245387	56288050	24907160	40	3356											
LLGL2	3993	broad.mit.edu	37	17	73555474	73555474	+	Silent	SNP	G	G	C			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:73555474G>C	uc002joh.3	+	5	667	c.513G>C	c.(511-513)tcG>tcC	p.S171S	LLGL2_uc002jog.1_Silent_p.S171S|LLGL2_uc010dgf.1_Silent_p.S171S|LLGL2_uc002joi.3_Silent_p.S171S|LLGL2_uc010dgg.2_Silent_p.S171S|LLGL2_uc002joj.3_Silent_p.S160S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	171					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCATCAGCTCGGACGCGGTGC	0.617													C	73555474	G	C	73555474	2	2	54	1	0	0	0	0	0	0	0	1	8834	1103	39	5		5	LLGL2	17	73555474	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	17267424	73555474	7639736	41	3357											
RNF213	57674	broad.mit.edu	37	17	78355436	78355436	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:78355436G>A	uc002jyh.2	+	57	14177	c.14034G>A	c.(14032-14034)aaG>aaA	p.K4678K	RNF213_uc021uen.1_Silent_p.K4629K|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGTTGGCCAAGATGCTGGGAC	0.567													A	78355436	G	A	78355436	2	1	54	1	0	0	0	0	0	0	0	1	13477	933	33	3		3	RNF213	17	78355436	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	4799962	78355436	2839774	42	3358											
DSC3	1825	broad.mit.edu	37	18	28584256	28584256	+	Silent	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr18:28584256C>T	uc002kwj.4	-	12	2120	c.1965G>A	c.(1963-1965)agG>agA	p.R655R	DSC3_uc002kwi.4_Silent_p.R655R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	655	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			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)			CTTGGCCGGCCCTGTCTTTTA	0.383													T	28584256	C	T	28584256	2	4	54	1	0	0	0	0	0	0	0	1	4767	622	22	3		3	DSC3	18	28584256	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08		28584256	49492992	43	3359											
MUC16	94025	broad.mit.edu	37	19	9090417	9090417	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr19:9090417G>C	uc002mkp.3	-	0	1602	c.1398C>G	c.(1396-1398)agC>agG	p.S466R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	466	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S466R(3)		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						TTCTGATCTTGCTGTCAAGAG	0.522													C	9090417	G	C	9090417	3	2	54	1	0	0	0	0	1	0	0	0	9973	1310	46	5	42461	5	MUC16	19	9090417	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		9090417	50038566	44	3360											
ZNF571	51276	broad.mit.edu	37	19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr19:38056190_38056193delGTAA	uc002ogs.1	-						LOC100507433_uc002ogm.3_Intron|LOC100507433_uc002ogn.3_Intron|LOC100507433_uc002ogo.3_Intron|LOC100507433_uc002ogp.3_Intron|LOC100507433_uc002ogq.3_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc002ogt.3_Frame_Shift_Del_p.T379fs|ZNF571_uc010efp.3_Frame_Shift_Del_p.T379fs			Q7Z3V5	ZN571_HUMAN	Homo sapiens zinc finger protein 571, mRNA (cDNA clone MGC:138690 IMAGE:40036719), complete cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377													-	38056193	GTAA	-	38056190	7	5	54	1	0	1	0	1	0	0	0	0	18000	1256	44	0	693	0	ZNF571	19	38056190	Frame_Shift_Del	DEL	GTAA	TCGA-06-0646-01A-01D-1492-08	28965773	38056190	21072793	45	3361											
REM1	28954	broad.mit.edu	37	20	30072181	30072181	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:30072181G>A	uc002wwa.3	+	4	1129	c.845G>A	c.(844-846)cGc>cAc	p.R282H	LINC00028_uc010ztn.1_5'Flank	NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	282	Arg-rich.|Calmodulin-binding (By similarity).				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCGCACGCCGCCGGGCACTC	0.701													A	30072181	G	A	30072181	3	1	54	1	0	0	0	0	1	0	0	0	13222	1087	38	1	859	1	REM1	20	30072181	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		30072181	32953339	46	3362											
HCK	3055	broad.mit.edu	37	20	30689234	30689234	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:30689234C>T	uc002wxh.3	+	12	1730	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L	HCK_uc010gdy.3_Missense_Mutation_p.P478L|HCK_uc021wbv.1_Missense_Mutation_p.P477L|HCK_uc002wxi.3_Missense_Mutation_p.P476L	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	498	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P477L(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAAACCGTCCGGAGGAGCGG	0.572													T	30689234	C	T	30689234	3	4	54	1	0	0	0	0	1	0	0	0	6994	652	23	2	1549	2	HCK	20	30689234	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	617053	30689234	32336286	47	3363											
ELMO2	63916	broad.mit.edu	37	20	45023078	45023078	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:45023078G>A	uc010zxr.1	-	2	254	c.44C>T	c.(43-45)cCa>cTa	p.P15L	ELMO2_uc002xrt.1_Missense_Mutation_p.P15L|ELMO2_uc002xru.1_Missense_Mutation_p.P15L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.P15L	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	15					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTTAGCACCTGGCCACTCAAT	0.547													A	45023078	G	A	45023078	3	1	54	1	0	0	0	0	1	0	0	0	5066	1348	47	3	2198	3	ELMO2	20	45023078	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	14333844	45023078	18002442	48	3364											
ACRC	93953	broad.mit.edu	37	X	70823913	70823913	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chrX:70823913G>A	uc004eae.2	+	7	1287	c.786G>A	c.(784-786)tcG>tcA	p.S262S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	262	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGAAGCTCCCG	0.552													A	70823913	G	A	70823913	2	1	54	1	0	0	0	0	0	0	0	1	171	1103	39	2		2	ACRC	23	70823913	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08		70823913	84446647	49	3365			1	6		2	2	31	G		4.845353e-05
ACRC	93953	broad.mit.edu	37	X	70823943	70823943	+	Silent	SNP	G	G	A			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chrX:70823943G>A	uc004eae.2	+	7	1317	c.816G>A	c.(814-816)tcG>tcA	p.S272S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	272	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGAAGCTCCCG	0.557													A	70823943	G	A	70823943	2	1	54	1	0	0	0	0	0	0	0	1	171	1103	39	2		2	ACRC	23	70823943	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	30	70823943	84446617	50	3366			1	6		2	2	31	G		4.845353e-05
DBT	1629	broad.mit.edu	37	1	100706430	100706430	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:100706430C>T	uc001dta.3	-	1	95	c.62G>A	c.(61-63)cGc>cAc	p.R21H	DBT_uc010oug.2_5'UTR|DBT_uc021oqo.1_Missense_Mutation_p.R21H	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	21					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTGAAAATAGCGAACACAAAT	0.313													T	100706430	C	T	100706430	3	4	55	1	0	0	0	0	1	0	0	0	4258	768	27	1	1426	1	DBT	1	100706430	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		100706430	148544191	1	3367											
ANP32E	81611	broad.mit.edu	37	1	150202934	150202934	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:150202934A>G	uc001etw.3	-	2	669	c.299T>C	c.(298-300)aTa>aCa	p.I100T	ANP32E_uc010pbu.2_Missense_Mutation_p.I52T|ANP32E_uc010pbv.2_Intron|ANP32E_uc001etv.4_Missense_Mutation_p.I100T|ANP32E_uc010pbw.1_Missense_Mutation_p.I100T	NM_030920	NP_001129951	Q9BTT0	AN32E_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member E (ANP32E), transcript variant 1, mRNA.	100						cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-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)			GAGATCTTTTATTTTGTTTCC	0.363													G	150202934	A	G	150202934	3	3	55	1	0	0	0	0	1	0	0	0	709	449	16	4	527	4	ANP32E	1	150202934	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	49496504	150202934	99047687	2	3368											
HMCN1	83872	broad.mit.edu	37	1	186084452	186084452	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:186084452C>T	uc001grq.1	+	74	11696	c.11467C>T	c.(11467-11469)Ctg>Ttg	p.L3823L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3823	Ig-like C2-type 37.				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						TCAAACTACTCTGGCTTGTGA	0.398													T	186084452	C	T	186084452	2	4	55	1	0	0	0	0	0	0	0	1	7220	912	32	3		3	HMCN1	1	186084452	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	35881518	186084452	63166169	3	3369											
SMYD2	56950	broad.mit.edu	37	1	214505455	214505455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:214505455C>A	uc021pix.1	+	9	1065	c.1032C>A	c.(1030-1032)taC>taA	p.Y344*	SMYD2_uc009xdl.1_Intron	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	344					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ACATGATGTACCAGGCCATGG	0.517											OREG0012979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	214505455	C	A	214505455	4	1	55	1	0	0	0	0	0	1	0	0	14822	518	18	5	1070	5	SMYD2	1	214505455	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	28421003	214505455	34745166	4	3370											
CCDC88A	55704	broad.mit.edu	37	2	55561635	55561635	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:55561635G>C	uc002ryv.2	-	14	3164	c.2322C>G	c.(2320-2322)aaC>aaG	p.N774K	CCDC88A_uc010ypa.1_Missense_Mutation_p.N774K|CCDC88A_uc010yoz.1_Missense_Mutation_p.N774K|CCDC88A_uc010ypb.1_Missense_Mutation_p.N676K|CCDC88A_uc002ryu.2_Missense_Mutation_p.N57K|CCDC88A_uc002ryw.3_Missense_Mutation_p.N57K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	774					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			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						TTTTATTGCTGTTCTCTAAAG	0.338													C	55561635	G	C	55561635	3	2	55	1	0	0	0	0	1	0	0	0	2863	1368	48	5	3365	5	CCDC88A	2	55561635	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		55561635	187637738	5	3371											
RMND5A	64795	broad.mit.edu	37	2	86992995	86992995	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:86992995G>A	uc002srr.2	+	5	1079	c.702G>A	c.(700-702)ttG>ttA	p.L234L	RMND5A_uc002srs.4_Intron	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	234										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TTCAGGTTTTGATGGGAAGCC	0.428													A	86992995	G	A	86992995	2	1	55	1	0	0	0	0	0	0	0	1	13397	1281	45	3		3	RMND5A	2	86992995	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	31431360	86992995	156206378	6	3372											
DDX18	8886	broad.mit.edu	37	2	118587005	118587005	+	Silent	SNP	G	G	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:118587005G>T	uc002tlh.1	+	12	1932	c.1833G>T	c.(1831-1833)ctG>ctT	p.L611L		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	611							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGTTGCTCTGTCATTTGGTT	0.403													T	118587005	G	T	118587005	2	4	55	1	0	0	0	0	0	0	0	1	4345	1364	48	5		5	DDX18	2	118587005	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	31594010	118587005	124612368	7	3373											
TTN	7273	broad.mit.edu	37	2	179556814	179556814	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:179556814G>T	uc021vsy.1	-	117	28184	c.27959C>A	c.(27958-27960)cCc>cAc	p.P9320H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5981H|TTN_uc010fre.1_Missense_Mutation_p.P431H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10247	Ig-like 76.						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)			GGGTTTCTTGGGAACCTCAGG	0.433													T	179556814	G	T	179556814	3	4	55	1	0	0	0	0	1	0	0	0	16732	1232	43	5	72806	5	TTN	2	179556814	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	60969809	179556814	63642559	8	3374											
TTN	7273	broad.mit.edu	37	2	179569962	179569962	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:179569962C>T	uc021vsy.1	-	99	26036	c.25811G>A	c.(25810-25812)cGa>cAa	p.R8604Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5265Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9531							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)			AAGAAGACCTCGGAAGTCAGT	0.383													T	179569962	C	T	179569962	3	4	55	1	0	0	0	0	1	0	0	0	16732	884	31	2	75026	2	TTN	2	179569962	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	13148	179569962	63629411	9	3375											
FGD5	152273	broad.mit.edu	37	3	14862435	14862435	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:14862435C>T	uc003bzc.3	+	0	1967	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	FGD5_uc011avk.2_Silent_p.F619F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	619					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACCTCCTTTCGACCTGGCCT	0.557													T	14862435	C	T	14862435	2	4	55	1	0	0	0	0	0	0	0	1	5836	883	31	2		2	FGD5	3	14862435	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08		14862435	183159995	10	3376											
GCET2	257144	broad.mit.edu	37	3	111842437	111842437	+	Silent	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:111842437A>G	uc021xcl.1	-	5	593	c.408T>C	c.(406-408)ccT>ccC	p.P136P	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Silent_p.P134P|GCET2_uc021xcm.1_Silent_p.P119P	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	134						mitochondrion		p.S135S(1)		endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						GGTCTGTAGAAGGCATATGTA	0.483													G	111842437	A	G	111842437	2	3	55	1	0	0	0	0	0	0	0	1	6288	59	3	4		4	GCET2	3	111842437	Silent	SNP	A	TCGA-06-0648-01A-01W-0323-08	96980002	111842437	86179993	11	3377											
ABCF3	55324	broad.mit.edu	37	3	183907351	183907351	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:183907351C>A	uc003fmz.2	+	12	1253	c.1120C>A	c.(1120-1122)Ccc>Acc	p.P374T	ABCF3_uc003fna.2_Missense_Mutation_p.P368T|ABCF3_uc003fnb.2_Missense_Mutation_p.P55T	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	374	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAGACGTGGCCCTCCACCAT	0.617													A	183907351	C	A	183907351	3	1	55	1	0	0	0	0	1	0	0	0	67	739	26	5	1170	5	ABCF3	3	183907351	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	72064914	183907351	14115079	12	3378											
EVC2	132884	broad.mit.edu	37	4	5630350	5630350	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:5630350G>A	uc003gij.3	-	11	1876	c.1822C>T	c.(1822-1824)Cgt>Tgt	p.R608C	EVC2_uc003gik.3_Missense_Mutation_p.R528C|EVC2_uc011bwb.2_Missense_Mutation_p.R48C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	608						integral to membrane		p.R608H(2)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCCTGCACACGGGTCTCTGAT	0.507													A	5630350	G	A	5630350	3	1	55	1	0	0	0	0	1	0	0	0	5286	1116	39	2	2148	2	EVC2	4	5630350	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		5630350	185523926	13	3379											
SLC2A9	56606	broad.mit.edu	37	4	9889261	9889261	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:9889261G>A	uc003gmc.3	-	9	1282	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	SLC2A9_uc003gmd.3_Silent_p.H378H	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	407					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCCAGGGGGCGTGGTCCTGGG	0.632													A	9889261	G	A	9889261	2	1	55	1	0	0	0	0	0	0	0	1	14552	1136	40	1		1	SLC2A9	4	9889261	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	4258911	9889261	181265015	14	3380											
PCDH7	5099	broad.mit.edu	37	4	30724267	30724267	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:30724267A>G	uc003gsk.1	+	0	2231	c.1223A>G	c.(1222-1224)gAg>gGg	p.E408G	PCDH7_uc011bxx.2_Missense_Mutation_p.E408G|PCDH7_uc021xnd.1_Missense_Mutation_p.E408G|PCDH7_uc021xnc.1_Missense_Mutation_p.E408G	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	408	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCAAAGACGAGAACGACAAC	0.642													G	30724267	A	G	30724267	3	3	55	1	0	0	0	0	1	0	0	0	11516	304	11	4	1225	4	PCDH7	4	30724267	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	20835006	30724267	160430009	15	3381											
CXCL6	6372	broad.mit.edu	37	4	74702791	74702791	+	Missense_Mutation	SNP	C	C	A	rs149811429		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:74702791C>A	uc003hhf.3	+	1	415	c.220C>A	c.(220-222)Cag>Aag	p.Q74K		NM_002993	NP_002984	P80162	CXCL6_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) (CXCL6), mRNA.	74					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	p.P73P(1)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGCAGGCCCGCAGTGCTCCAA	0.542													A	74702791	C	A	74702791	3	1	55	1	0	0	0	0	1	0	0	0	4088	711	25	5	226	5	CXCL6	4	74702791	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	43978524	74702791	116451485	16	3382											
NPNT	255743	broad.mit.edu	37	4	106863540	106863540	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:106863540C>A	uc011cfd.2	+	8	1143	c.930C>A	c.(928-930)gaC>gaA	p.D310E	NPNT_uc011cfc.2_Missense_Mutation_p.D297E|NPNT_uc011cfe.2_Missense_Mutation_p.D310E|NPNT_uc003hya.3_Missense_Mutation_p.D280E|NPNT_uc011cff.2_Missense_Mutation_p.D280E	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	280	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TAAAGGGTGACACAGGAAATA	0.393													A	106863540	C	A	106863540	3	1	55	1	0	0	0	0	1	0	0	0	10590	477	17	5	1019	5	NPNT	4	106863540	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	32160749	106863540	84290736	17	3383											
TLL1	7092	broad.mit.edu	37	4	166960565	166960565	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:166960565C>T	uc003irh.2	+	9	1880	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	TLL1_uc011cjn.2_Silent_p.D411D|TLL1_uc011cjo.2_Silent_p.D235D	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	411	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAGTAAGAGACGGGTACTGGA	0.388													T	166960565	C	T	166960565	2	4	55	1	0	0	0	0	0	0	0	1	15942	535	19	1		1	TLL1	4	166960565	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	60097025	166960565	24193711	18	3384											
ODZ3	55714	broad.mit.edu	37	4	183594220	183594220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:183594220C>T	uc003ivd.1	+	5	1249	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	392					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGATATTGGCCGAAGAGCAAT	0.388													T	183594220	C	T	183594220	4	4	55	1	0	0	0	0	0	1	0	0	10836	644	23	2	1196	2	ODZ3	4	183594220	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	16633655	183594220	7560056	19	3385											
ODZ3	55714	broad.mit.edu	37	4	183594343	183594343	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:183594343C>T	uc003ivd.1	+	5	1372	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	433					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGTATATGGCCGGAAAGGCTT	0.388													T	183594343	C	T	183594343	3	4	55	1	0	0	0	0	1	0	0	0	10836	643	23	2	1319	2	ODZ3	4	183594343	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	123	183594343	7559933	20	3386											
FAT1	2195	broad.mit.edu	37	4	187557880	187557880	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:187557880G>A	uc003izf.3	-	4	4019	c.3831C>T	c.(3829-3831)acC>acT	p.T1277T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1277	Cadherin 11.				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			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						CATCCTTGTCGGTGGCTATGA	0.493										HNSCC(5;0.00058)			A	187557880	G	A	187557880	2	1	55	1	0	0	0	0	0	0	0	1	5689	1103	39	2		2	FAT1	4	187557880	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	3963537	187557880	3596396	21	3387											
TTC37	9652	broad.mit.edu	37	5	94856458	94856458	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:94856458G>A	uc003klb.3	-	19	2373	c.2076C>T	c.(2074-2076)gcC>gcT	p.A692A		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	692							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTAGTCTACGGCTTTTCCAT	0.299													A	94856458	G	A	94856458	2	1	55	1	0	0	0	0	0	0	0	1	16702	1103	39	2		2	TTC37	5	94856458	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		94856458	86058802	22	3388											
DMXL1	1657	broad.mit.edu	37	5	118503534	118503534	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:118503534A>G	uc010jcl.1	+	22	5554	c.5373A>G	c.(5371-5373)atA>atG	p.I1791M	DMXL1_uc003ksd.2_Missense_Mutation_p.I1791M|DMXL1_uc021ycw.1_Missense_Mutation_p.I1618M	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1791										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAACATTAATAAAGCAACCTA	0.343													G	118503534	A	G	118503534	3	3	55	1	0	0	0	0	1	0	0	0	4594	352	13	4	5463	4	DMXL1	5	118503534	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	23647076	118503534	62411726	23	3389											
ABLIM3	22885	broad.mit.edu	37	5	148620291	148620291	+	Silent	SNP	C	C	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:148620291C>G	uc003lpy.2	+	13	1508	c.1257C>G	c.(1255-1257)tcC>tcG	p.S419S	ABLIM3_uc003lpz.1_Silent_p.S419S|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	419					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGAGGTCCTCCACTCCAA	0.572													G	148620291	C	G	148620291	2	3	55	1	0	0	0	0	0	0	0	1	96	668	24	5		5	ABLIM3	5	148620291	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	30116757	148620291	32294969	24	3390											
SLIT3	6586	broad.mit.edu	37	5	168112727	168112727	+	Missense_Mutation	SNP	C	C	T	rs150873620	by1000genomes	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:168112727C>T	uc010jjg.3	-	30	3961	c.3541G>A	c.(3541-3543)Gcc>Acc	p.A1181T	SLIT3_uc003mab.3_Missense_Mutation_p.A1174T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1174	Laminin G-like.				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.A1174T(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)			CGGACCTTGGCGGAGGCCAGT	0.627													T	168112727	C	T	168112727	3	4	55	1	0	0	0	0	1	0	0	0	14741	768	27	1	1075	1	SLIT3	5	168112727	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	19492436	168112727	12802533	25	3391											
STK10	6793	broad.mit.edu	37	5	171479966	171479966	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:171479966C>T	uc003mbo.1	-	17	3033	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	911							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCGCCATTCCTTCAGGTTCT	0.567													T	171479966	C	T	171479966	2	4	55	1	0	0	0	0	0	0	0	1	15285	680	24	3		3	STK10	5	171479966	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	3367239	171479966	9435294	26	3392											
LMAN2	10960	broad.mit.edu	37	5	176765541	176765541	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:176765541G>A	uc003mge.3	-	2	618	c.381C>T	c.(379-381)aaC>aaT	p.N127N		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	127	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CTCCATGGAGGTTCTTCTTCC	0.632													A	176765541	G	A	176765541	2	1	55	1	0	0	0	0	0	0	0	1	8838	1252	44	3		3	LMAN2	5	176765541	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	5285575	176765541	4149719	27	3393											
CANX	821	broad.mit.edu	37	5	179132740	179132740	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:179132740G>A	uc011dgp.2	+	1	238	c.163G>A	c.(163-165)Gct>Act	p.A55T	CANX_uc010jlb.1_Missense_Mutation_p.A20T|CANX_uc003mkk.3_Missense_Mutation_p.A20T|CANX_uc003mkl.3_Missense_Mutation_p.A20T|CANX_uc011dgq.2_5'UTR	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	20					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	tattgttgaggctcatgatgg	0.423													A	179132740	G	A	179132740	3	1	55	1	0	0	0	0	1	0	0	0	2618	1203	42	3	60	3	CANX	5	179132740	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	2367199	179132740	1782520	28	3394											
ABCF1	23	broad.mit.edu	37	6	30552069	30552069	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:30552069delG	uc003nql.3	+	12	1298	c.1203delG	c.(1201-1203)ctgfs	p.L401fs	ABCF1_uc003nqk.2_Frame_Shift_Del_p.L402fs|ABCF1_uc003nqm.3_Frame_Shift_Del_p.L363fs|MIR877_uc021yud.1_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	401	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGGGACAGCTGGAACAAGGGG	0.592													-	30552069	G	-	30552069	7	5	55	1	0	1	0	1	0	0	0	0	65	1335	47	0	1253	0	ABCF1	6	30552069	Frame_Shift_Del	DEL	G	TCGA-06-0648-01A-01W-0323-08		30552069	140562998	29	3395											
LRFN2	57497	broad.mit.edu	37	6	40359856	40359856	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:40359856C>T	uc003oph.1	-	2	2661	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	732						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCCCGCCGCCGCAGCAGCAA	0.682													T	40359856	C	T	40359856	2	4	55	1	0	0	0	0	0	0	0	1	8938	639	23	2		2	LRFN2	6	40359856	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	9807787	40359856	130755211	30	3396											
UNC5CL	222643	broad.mit.edu	37	6	40996138	40996138	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:40996138C>T	uc003opi.3	-	8	1630	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	511					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCTCCAGGCCCTGGTTATCC	0.687											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40996138	C	T	40996138	3	4	55	1	0	0	0	0	1	0	0	0	16991	623	22	3	29	3	UNC5CL	6	40996138	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	636282	40996138	130118929	31	3397											
SMPD2	6610	broad.mit.edu	37	6	109764877	109764877	+	Silent	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:109764877A>G	uc003pti.3	+	9	1435	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	347					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TGGCGGCTGGAGGAGGGGCCG	0.632													G	109764877	A	G	109764877	2	3	55	1	0	0	0	0	0	0	0	1	14805	291	11	4		4	SMPD2	6	109764877	Silent	SNP	A	TCGA-06-0648-01A-01W-0323-08	68768739	109764877	61350190	32	3398											
UTRN	7402	broad.mit.edu	37	6	144809879	144809879	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:144809879T>A	uc003qkt.3	+	28	4135	c.4043T>A	c.(4042-4044)gTc>gAc	p.V1348D		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1348	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGCTTCAAGTCTTGCAAGAG	0.483													A	144809879	T	A	144809879	3	1	55	1	0	0	0	0	1	0	0	0	17100	1667	58	5	4157	5	UTRN	6	144809879	Missense_Mutation	SNP	T	TCGA-06-0648-01A-01W-0323-08	35045002	144809879	26305188	33	3399											
SLC29A4	222962	broad.mit.edu	37	7	5330480	5330480	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:5330480A>G	uc003sod.3	+	2	448	c.287A>G	c.(286-288)cAt>cGt	p.H96R	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.H96R|SLC29A4_uc003soe.3_Missense_Mutation_p.H96R	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	96					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GACTACCTGCATCACAAGTAC	0.627													G	5330480	A	G	5330480	3	3	55	1	0	0	0	0	1	0	0	0	14537	217	8	4	293	4	SLC29A4	7	5330480	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08		5330480	153808183	34	3400											
STK31	56164	broad.mit.edu	37	7	23830449	23830449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:23830449C>T	uc003sws.4	+	21	2711	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	STK31_uc003swt.4_Nonsense_Mutation_p.R859*|STK31_uc011jze.2_Nonsense_Mutation_p.R882*|STK31_uc010kuq.3_Nonsense_Mutation_p.R859*|STK31_uc003swv.1_Nonsense_Mutation_p.R48*	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	882	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCAGAGTCAGCGAGCCTCGGT	0.378													T	23830449	C	T	23830449	4	4	55	1	0	0	0	0	0	1	0	0	15295	760	27	1	2730	1	STK31	7	23830449	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	18499969	23830449	135308214	35	3401											
EGFR	1956	broad.mit.edu	37	7	55233035	55233035	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:55233035C>T	uc003tqk.3	+	14	2031	c.1785C>T	c.(1783-1785)tgC>tgT	p.C595C	EGFR_uc003tqi.3_Silent_p.C595C|EGFR_uc003tqj.3_Silent_p.C595C|EGFR_uc022adm.1_Silent_p.C595C|EGFR_uc010kzg.2_Silent_p.C550C|EGFR_uc022adn.1_Silent_p.C550C|EGFR_uc011kco.2_Silent_p.C542C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	595					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCAAGACCTGCCCGGCAGGAG	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233035	C	T	55233035	2	4	55	1	0	0	0	0	0	0	0	1	4967	747	26	3		3	EGFR	7	55233035	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	31402586	55233035	103905628	36	3402											
MCM4	4173	broad.mit.edu	37	8	48889249	48889249	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr8:48889249A>G	uc003xqk.2	+	16	3329	c.2503A>G	c.(2503-2505)Att>Gtt	p.I835V	MCM4_uc003xql.2_Missense_Mutation_p.I835V|MCM4_uc011ldi.2_Missense_Mutation_p.I822V	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	835					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.A834T(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCCACAGGCAATTACTAAAGA	0.423													G	48889249	A	G	48889249	3	3	55	1	0	0	0	0	1	0	0	0	9389	101	4	4	2565	4	MCM4	8	48889249	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08		48889249	97474773	37	3403											
TTC39B	158219	broad.mit.edu	37	9	15185345	15185345	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:15185345G>A	uc003zlr.2	-	15	1584	c.1547C>T	c.(1546-1548)gCt>gTt	p.A516V	TTC39B_uc003zlq.2_Missense_Mutation_p.A419V|TTC39B_uc011lmp.2_Missense_Mutation_p.A351V|TTC39B_uc010mie.2_Missense_Mutation_p.A514V|TTC39B_uc011lmr.2_Missense_Mutation_p.A447V|TTC39B_uc011lmq.2_Missense_Mutation_p.A503V|TTC39B_uc003zlp.2_Missense_Mutation_p.A33V	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	450							binding	p.D516Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTTCCTCACAGCAAACTTCTC	0.507													A	15185345	G	A	15185345	3	1	55	1	0	0	0	0	1	0	0	0	16705	971	34	3	521	3	TTC39B	9	15185345	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		15185345	126028086	38	3404											
SMC2	10592	broad.mit.edu	37	9	106885401	106885401	+	Silent	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:106885401A>G	uc004bbv.3	+	16	2433	c.2145A>G	c.(2143-2145)ctA>ctG	p.L715L	SMC2_uc004bbu.1_Silent_p.L715L|SMC2_uc004bbw.3_Silent_p.L715L|SMC2_uc011lvl.2_Silent_p.L715L|SMC2_uc004bbx.3_Silent_p.L715L	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	715					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATCGCCAACTAAAACAGCAGT	0.348													G	106885401	A	G	106885401	2	3	55	1	0	0	0	0	0	0	0	1	14783	349	13	4		4	SMC2	9	106885401	Silent	SNP	A	TCGA-06-0648-01A-01W-0323-08	91700056	106885401	34328030	39	3405											
COL27A1	85301	broad.mit.edu	37	9	117071558	117071558	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:117071558C>T	uc011lxl.2	+	59	5236	c.5236C>T	c.(5236-5238)Cgg>Tgg	p.R1746W	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Missense_Mutation_p.R61W	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1746	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent	p.R1746L(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCCATCAGCCGGGTCCAGAT	0.607													T	117071558	C	T	117071558	3	4	55	1	0	0	0	0	1	0	0	0	3685	643	23	2	5474	2	COL27A1	9	117071558	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	10186157	117071558	24141873	40	3406											
ATP6V1G1	9550	broad.mit.edu	37	9	117359986	117359986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:117359986G>A	uc004bjc.3	+	2	445	c.320G>A	c.(319-321)cGg>cAg	p.R107Q		NM_004888	NP_004879	O75348	VATG1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 (ATP6V1G1), mRNA.	107					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	p.R107R(1)		endometrium(1)|lung(2)|prostate(1)|skin(1)	5						TGTGACATTCGGCCAGAAATC	0.478													A	117359986	G	A	117359986	3	1	55	1	0	0	0	0	1	0	0	0	1186	1116	39	2	330	2	ATP6V1G1	9	117359986	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	288428	117359986	23853445	41	3407											
NELF	26012	broad.mit.edu	37	9	140351900	140351900	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:140351900C>T	uc004cna.3	-	2	819	c.587G>A	c.(586-588)cGc>cAc	p.R196H	NELF_uc011mex.2_5'Flank|NELF_uc010nci.3_5'Flank|NELF_uc011mey.2_Non-coding_Transcript|NELF_uc004cnb.3_Missense_Mutation_p.R196H|NELF_uc004cmz.3_Missense_Mutation_p.R196H|NELF_uc011mez.2_Missense_Mutation_p.R196H|NELF_uc004cnc.3_Missense_Mutation_p.R196H|NELF_uc022bqi.1_Missense_Mutation_p.R196H	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	Homo sapiens nasal embryonic LHRH factor (NELF), transcript variant 1, mRNA.	196						nucleus|plasma membrane				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	10	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		CAGCTTCTTGCGGCGACCGGA	0.652													T	140351900	C	T	140351900	3	4	55	1	0	0	0	0	1	0	0	0	10332	768	27	1	1071	1	NELF	9	140351900	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	22991914	140351900	861531	42	3408											
SLC39A12	221074	broad.mit.edu	37	10	18270258	18270258	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr10:18270258G>A	uc001ipo.2	+	5	1215	c.942G>A	c.(940-942)agG>agA	p.R314R	SLC39A12_uc001ipn.2_Silent_p.R314R|SLC39A12_uc001ipp.2_Silent_p.R314R|SLC39A12_uc010qck.1_Silent_p.R180R	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	314					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTCTGCTAGGCAGCTGGTGG	0.448													A	18270258	G	A	18270258	2	1	55	1	0	0	0	0	0	0	0	1	14615	1194	42	3		3	SLC39A12	10	18270258	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		18270258	117264489	43	3409											
FAM196A	642938	broad.mit.edu	37	10	128973691	128973691	+	Silent	SNP	C	C	T	rs139302074	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr10:128973691C>T	uc001lju.1	-	0	1010	c.969G>A	c.(967-969)tcG>tcA	p.S323S	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.S323S|FAM196A_uc001ljv.1_Silent_p.S323S|FAM196A_uc009yap.1_Silent_p.S323S	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	323										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGAGTCTGCGACGGCTGCT	0.642													T	128973691	C	T	128973691	2	4	55	1	0	0	0	0	0	0	0	1	5528	755	27	1		1	FAM196A	10	128973691	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	110703433	128973691	6561056	44	3410											
MRPL23	6150	broad.mit.edu	37	11	1973439	1973439	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:1973439G>C	uc001lux.3	+	3	314	c.223_splice	c.e3+1	p.G75_splice		NM_021134	NP_066957	Q16540	RM23_HUMAN	Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.	75					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGTGCAGCATGGTGAGTGCCC	0.602													C	1973439	G	C	1973439	3	2	55	1	0	0	0	0	1	0	0	0	9789	1362	47	5	233	5	MRPL23	11	1973439	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		1973439	133033077	45	3411											
ANO5	203859	broad.mit.edu	37	11	22239813	22239813	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:22239813T>G	uc001mqi.2	+	3	477	c.160T>G	c.(160-162)Ttc>Gtc	p.F54V	ANO5_uc001mqj.2_Missense_Mutation_p.F53V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	54						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.L53F(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTCAATTTGTTCCTGAGGCG	0.403													G	22239813	T	G	22239813	3	3	55	1	0	0	0	0	1	0	0	0	700	1725	60	5	174	5	ANO5	11	22239813	Missense_Mutation	SNP	T	TCGA-06-0648-01A-01W-0323-08	20266374	22239813	112766703	46	3412											
OR5D16	390144	broad.mit.edu	37	11	55606889	55606889	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:55606889C>A	uc010rio.2	+	0	662	c.662C>A	c.(661-663)gCa>gAa	p.A221E		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACATCTTATGCATTCATCATT	0.468													A	55606889	C	A	55606889	3	1	55	1	0	0	0	0	1	0	0	0	11156	710	25	5	664	5	OR5D16	11	55606889	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	33367076	55606889	79399627	47	3413											
OR5D16	390144	broad.mit.edu	37	11	55606937	55606937	+	Missense_Mutation	SNP	G	G	A	rs148616685		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:55606937G>A	uc010rio.2	+	0	710	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AGTGGGCACCGCAAAGTCTTC	0.488													A	55606937	G	A	55606937	3	1	55	1	0	0	0	0	1	0	0	0	11156	1087	38	1	712	1	OR5D16	11	55606937	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	48	55606937	79399579	48	3414											
OR5M3	219482	broad.mit.edu	37	11	56237927	56237927	+	Missense_Mutation	SNP	G	G	A	rs147367874	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:56237927G>A	uc010rjk.2	-	0	88	c.47C>T	c.(46-48)aCg>aTg	p.T16M	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCGACGGCTCGTTAGCCCCAA	0.383													A	56237927	G	A	56237927	3	1	55	1	0	0	0	0	1	0	0	0	11175	1145	40	1	878	1	OR5M3	11	56237927	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	630990	56237927	78768589	49	3415											
ANO1	55107	broad.mit.edu	37	11	69949227	69949227	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:69949227G>A	uc001opj.3	+	2	802	c.497G>A	c.(496-498)tGc>tAc	p.C166Y	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.C138Y	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	166					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AACGTGCTGTGCAGAGAGGCC	0.532													A	69949227	G	A	69949227	3	1	55	1	0	0	0	0	1	0	0	0	695	1319	46	3	507	3	ANO1	11	69949227	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	13711300	69949227	65057289	50	3416											
PAAF1	80227	broad.mit.edu	37	11	73627614	73627614	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:73627614G>A	uc001ouk.1	+	8	878	c.844G>A	c.(844-846)Gct>Act	p.A282T	PAAF1_uc001oul.1_Missense_Mutation_p.A265T|PAAF1_uc001oum.1_Missense_Mutation_p.A265T	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	282					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGGCTCAGACGCTTTCAACTG	0.423													A	73627614	G	A	73627614	3	1	55	1	0	0	0	0	1	0	0	0	11362	1087	38	1	878	1	PAAF1	11	73627614	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	3678387	73627614	61378902	51	3417											
XRRA1	143570	broad.mit.edu	37	11	74559419	74559419	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:74559419A>G	uc009yub.3	-	14	1777	c.1445T>C	c.(1444-1446)aTg>aCg	p.M482T	XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_Missense_Mutation_p.M105T|XRRA1_uc001ovo.3_Missense_Mutation_p.M90T|XRRA1_uc001ovp.4_Missense_Mutation_p.M207T|XRRA1_uc001ovq.4_Missense_Mutation_p.M395T|XRRA1_uc001ovr.2_Missense_Mutation_p.M105T|XRRA1_uc001ovs.1_Missense_Mutation_p.M84T	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	482					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGCTCTAGCATATCCTTTGA	0.552													G	74559419	A	G	74559419	3	3	55	1	0	0	0	0	1	0	0	0	17458	217	8	4	953	4	XRRA1	11	74559419	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	931805	74559419	60447097	52	3418											
ADAMTS8	11095	broad.mit.edu	37	11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:130281492C>T	uc001qgg.4	-	5	1928	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	ADAMTS8_uc001qgf.3_Missense_Mutation_p.V5M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	524	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.V553M(1)|p.V524M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577													T	130281492	C	T	130281492	3	4	55	1	0	0	0	0	1	0	0	0	272	536	19	1	1115	1	ADAMTS8	11	130281492	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	55722073	130281492	4725024	53	3419											
KRT4	3851	broad.mit.edu	37	12	53208029	53208029	+	Silent	SNP	G	G	A	rs143824965	by1000genomes	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:53208029G>A	uc001saz.3	-	0	36	c.36C>T	c.(34-36)aaC>aaT	p.N12N		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCCCGCACCCGTTGAGCATGT	0.542													A	53208029	G	A	53208029	2	1	55	1	0	0	0	0	0	0	0	1	8477	1136	40	1		1	KRT4	12	53208029	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		53208029	80643866	54	3420											
MYO1A	4640	broad.mit.edu	37	12	57432332	57432332	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:57432332G>A	uc001smw.4	-	16	1864	c.1624C>T	c.(1624-1626)Ctc>Ttc	p.L542F	MYO1A_uc010sqz.2_Missense_Mutation_p.L380F|MYO1A_uc009zpd.3_Missense_Mutation_p.L542F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	542	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GACCGAAGGAGGGGGTGCTGG	0.537													A	57432332	G	A	57432332	3	1	55	1	0	0	0	0	1	0	0	0	10068	1000	35	3	1555	3	MYO1A	12	57432332	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	4224303	57432332	76419563	55	3421											
C12orf66	144577	broad.mit.edu	37	12	64588399	64588399	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:64588399G>A	uc001srw.4	-	2	620	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_152440	NP_689653	Q96MD2	CL066_HUMAN	Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.	187										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTTCCAGCTGGAAACTGCTTT	0.478													A	64588399	G	A	64588399	2	1	55	1	0	0	0	0	0	0	0	1	1709	1165	41	3		3	C12orf66	12	64588399	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	7156067	64588399	69263496	56	3422											
KSR2	283455	broad.mit.edu	37	12	118016952	118016952	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:118016952G>A	uc001two.2	-	6	1265	c.1210C>T	c.(1210-1212)Ctt>Ttt	p.L404F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	433					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.L465F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCCAAAAAGCATCCCTTTC	0.478													A	118016952	G	A	118016952	3	1	55	1	0	0	0	0	1	0	0	0	8582	971	34	3	1611	3	KSR2	12	118016952	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	53428553	118016952	15834943	57	3423											
CCDC60	160777	broad.mit.edu	37	12	119866567	119866567	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:119866567G>A	uc001txe.3	+	2	635	c.170_splice	c.e2+1	p.R57_splice	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	57										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATACGAAGCCGGTGAGTGAGC	0.502													A	119866567	G	A	119866567	3	1	55	1	0	0	0	0	1	0	0	0	2831	1130	39	2	176	2	CCDC60	12	119866567	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	1849615	119866567	13985328	58	3424											
GPR133	283383	broad.mit.edu	37	12	131487816	131487816	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:131487816G>T	uc010tbm.2	+	10	1768	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	GPR133_uc001uit.4_Missense_Mutation_p.Q371H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	371					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCACGCCCCAGGTCACCGTGG	0.617													T	131487816	G	T	131487816	3	4	55	1	0	0	0	0	1	0	0	0	6643	991	35	5	1151	5	GPR133	12	131487816	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	11621249	131487816	2364079	59	3425											
DCLK1	9201	broad.mit.edu	37	13	36428681	36428681	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr13:36428681C>T	uc001uvf.3	-	5	1273	c.990G>A	c.(988-990)tcG>tcA	p.S330S	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.S23S|DCLK1_uc010teh.2_Silent_p.S23S|DCLK1_uc010abk.3_Silent_p.S23S|DCLK1_uc001uvh.4_Silent_p.S23S	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	330	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S330S(3)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATGGGCTTGGCGACTTGCCTG	0.493													T	36428681	C	T	36428681	2	4	55	1	0	0	0	0	0	0	0	1	4291	755	27	1		1	DCLK1	13	36428681	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08		36428681	78741197	60	3426											
GRK1	6011	broad.mit.edu	37	13	114321752	114321752	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr13:114321752C>T	uc010tkf.2	+	0	156	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	17	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCTTCATCGCCGCCCGAGGCA	0.647													T	114321752	C	T	114321752	2	4	55	1	0	0	0	0	0	0	0	1	6790	639	23	2		2	GRK1	13	114321752	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	77893071	114321752	848126	61	3427											
SCFD1	23256	broad.mit.edu	37	14	31139520	31139520	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:31139520C>G	uc001wqm.1	+	10	938	c.914C>G	c.(913-915)gCt>gGt	p.A305G	SCFD1_uc001wqn.1_Missense_Mutation_p.A238G|SCFD1_uc010tpg.1_Missense_Mutation_p.A246G|SCFD1_uc010tph.1_Missense_Mutation_p.A120G|SCFD1_uc010amf.1_Missense_Mutation_p.A120G|SCFD1_uc010tpi.1_Missense_Mutation_p.A213G|SCFD1_uc010amd.1_Missense_Mutation_p.A137G	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	305					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AACTCTCCAGCTGGTGCTAGA	0.328													G	31139520	C	G	31139520	3	3	55	1	0	0	0	0	1	0	0	0	13889	797	28	5	956	5	SCFD1	14	31139520	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		31139520	76210020	62	3428											
FANCM	57697	broad.mit.edu	37	14	45665510	45665510	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:45665510G>A	uc001wwd.4	+	20	5575	c.5476G>A	c.(5476-5478)Gaa>Aaa	p.E1826K	FANCM_uc010anf.3_Missense_Mutation_p.E1800K|FANCM_uc001wwe.4_Missense_Mutation_p.E1362K|FANCM_uc010ang.3_Missense_Mutation_p.E1075K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1826	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			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						AGGTGGTCATGAAATCACTTC	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	45665510	G	A	45665510	3	1	55	1	0	0	0	0	1	0	0	0	5671	1291	45	3	5558	3	FANCM	14	45665510	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	14525990	45665510	61684030	63	3429											
ESR2	2100	broad.mit.edu	37	14	64727172	64727172	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:64727172A>T	uc001xha.1	-	4	1415	c.947T>A	c.(946-948)aTt>aAt	p.I316N	ESR2_uc001xgy.2_Missense_Mutation_p.I316N|ESR2_uc001xgu.3_Missense_Mutation_p.I316N|ESR2_uc001xgv.3_Missense_Mutation_p.I316N|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.I316N|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.I316N|ESR2_uc001xgz.2_Missense_Mutation_p.I316N|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	316	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCTACCGGGAATCTTCTTGGC	0.532													T	64727172	A	T	64727172	3	4	55	1	0	0	0	0	1	0	0	0	5257	101	4	5	751	5	ESR2	14	64727172	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	19061662	64727172	42622368	64	3430											
SERPINA6	866	broad.mit.edu	37	14	94780400	94780400	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:94780400C>T	uc001ycv.3	-	1	690	c.586G>A	c.(586-588)Gtc>Atc	p.V196I	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	196					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TTGACCAGGACGAGGATGGCT	0.502													T	94780400	C	T	94780400	3	4	55	1	0	0	0	0	1	0	0	0	14093	536	19	1	647	1	SERPINA6	14	94780400	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	30053228	94780400	12569140	65	3431											
AHNAK2	113146	broad.mit.edu	37	14	105410846	105410846	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:105410846A>G	uc010axc.1	-	6	11062	c.10942T>C	c.(10942-10944)Ttc>Ctc	p.F3648L	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.F3548L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3648						nucleus				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)			GATACCCTGAATGACGGCATC	0.592													G	105410846	A	G	105410846	3	3	55	1	0	0	0	0	1	0	0	0	415	101	4	4	6449	4	AHNAK2	14	105410846	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	10630446	105410846	1938694	66	3432											
AHNAK2	113146	broad.mit.edu	37	14	105417866	105417866	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:105417866C>T	uc010axc.1	-	6	4042	c.3922G>A	c.(3922-3924)Gca>Aca	p.A1308T	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1208T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1308						nucleus				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)			TCCAGCTGTGCGCCATCCAAC	0.597													T	105417866	C	T	105417866	3	4	55	1	0	0	0	0	1	0	0	0	415	768	27	1	13469	1	AHNAK2	14	105417866	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	7020	105417866	1931674	67	3433											
DUOX2	50506	broad.mit.edu	37	15	45392270	45392270	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:45392270G>A	uc001zun.3	-	23	3365	c.3162C>T	c.(3160-3162)ggC>ggT	p.G1054G	DUOX2_uc010bea.3_Silent_p.G1054G	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1054	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGCAAACACGCCAACACAGA	0.562													A	45392270	G	A	45392270	2	1	55	1	0	0	0	0	0	0	0	1	4801	1074	38	1		1	DUOX2	15	45392270	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		45392270	57139122	68	3434											
FBXO22	26263	broad.mit.edu	37	15	76205599	76205599	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:76205599delT	uc002bbk.3	+	2	440	c.335delT	c.(334-336)attfs	p.I112fs	FBXO22_uc002bbj.2_Frame_Shift_Del_p.I112fs|FBXO22_uc002bbl.3_Frame_Shift_Del_p.I8fs	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	112					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAAACTTTCATTAGTCTGGAA	0.358													-	76205599	T	-	76205599	7	5	55	1	0	1	0	1	0	0	0	0	5734	1493	52	0	345	0	FBXO22	15	76205599	Frame_Shift_Del	DEL	T	TCGA-06-0648-01A-01W-0323-08	30813329	76205599	26325793	69	3435											
SYNM	23336	broad.mit.edu	37	15	99670079	99670079	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:99670079C>T	uc002bup.3	+	4	1631	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	SYNM_uc002buo.3_Missense_Mutation_p.T504M|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	505	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTGAAAGCCACGAGGGAGCAA	0.488													T	99670079	C	T	99670079	3	4	55	1	0	0	0	0	1	0	0	0	15452	536	19	1	1527	1	SYNM	15	99670079	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	23464480	99670079	2861313	70	3436											
LRRK1	79705	broad.mit.edu	37	15	101586198	101586198	+	Silent	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:101586198C>T	uc002bwr.3	+	20	3295	c.2976C>T	c.(2974-2976)ccC>ccT	p.P992P	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	992					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCTCCTGCCCCATCTCCTTC	0.592													T	101586198	C	T	101586198	2	4	55	1	0	0	0	0	0	0	0	1	9032	610	22	3		3	LRRK1	15	101586198	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	1916119	101586198	945194	71	3437											
SPIRE2	84501	broad.mit.edu	37	16	89916966	89916966	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr16:89916966delC	uc002foz.1	+	2	595	c.543delC	c.(541-543)gacfs	p.D181fs	SPIRE2_uc010civ.1_Frame_Shift_Del_p.D96fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.D181fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.D133fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.D50fs	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	181	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGCTGACCGACCCCCGGGGCG	0.751													-	89916966	C	-	89916966	7	5	55	1	0	1	0	1	0	0	0	0	15071	506	18	0	553	0	SPIRE2	16	89916966	Frame_Shift_Del	DEL	C	TCGA-06-0648-01A-01W-0323-08		89916966	437787	72	3438											
OR3A2	4995	broad.mit.edu	37	17	3181738	3181738	+	Silent	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:3181738G>A	uc002fvg.3	-	0	531	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	164					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GGGTCAGTGCGTTGGTGAAGG	0.582													A	3181738	G	A	3181738	2	1	55	1	0	0	0	0	0	0	0	1	11038	1136	40	1		1	OR3A2	17	3181738	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		3181738	78013472	73	3439											
DNAH2	146754	broad.mit.edu	37	17	7736507	7736507	+	Missense_Mutation	SNP	G	G	A	rs145226741		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:7736507G>A	uc002giu.1	+	83	13111	c.13097G>A	c.(13096-13098)cGg>cAg	p.R4366Q		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4366					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCCACTTCCGGCCTGCAGAG	0.622													A	7736507	G	A	7736507	3	1	55	1	0	0	0	0	1	0	0	0	4602	1116	39	2	13431	2	DNAH2	17	7736507	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	4554769	7736507	73458703	74	3440											
MLLT6	4302	broad.mit.edu	37	17	36873166	36873166	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:36873166C>T	uc002hqi.4	+	9	1596	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	MLLT6_uc002hqj.3_Intron|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	528					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGAGGTCTGTCCTCCCGAACC	0.637			T	MLL	AL								T	36873166	C	T	36873166	3	4	55	1	0	0	0	0	1	0	0	0	9630	855	30	3	1621	3	MLLT6	17	36873166	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	29136659	36873166	44322044	75	3441											
OR4D2	124538	broad.mit.edu	37	17	56247707	56247707	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:56247707G>A	uc010wnp.2	+	0	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACATCCAGGGGAGGCAAGAAG	0.537													A	56247707	G	A	56247707	3	1	55	1	0	0	0	0	1	0	0	0	11056	1175	41	3	693	3	OR4D2	17	56247707	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	19374541	56247707	24947503	76	3442											
LGALS13	29124	broad.mit.edu	37	19	40095888	40095888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:40095888C>T	uc002omb.3	+	2	203	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	55	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	p.F54F(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTCCGTTTCCGAGTGCACTT	0.498													T	40095888	C	T	40095888	4	4	55	1	0	0	0	0	0	1	0	0	8740	644	23	2	173	2	LGALS13	19	40095888	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		40095888	19033095	77	3443											
CEACAM7	1087	broad.mit.edu	37	19	42187746	42187746	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:42187746G>A	uc002ori.1	-	2	678	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	CEACAM7_uc010ehx.2_Missense_Mutation_p.R226C|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	226	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGGTCACTGCGGCTGGCACCC	0.552													A	42187746	G	A	42187746	3	1	55	1	0	0	0	0	1	0	0	0	3197	1116	39	2	129	2	CEACAM7	19	42187746	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	2091858	42187746	16941237	78	3444											
BCAM	4059	broad.mit.edu	37	19	45322967	45322967	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:45322967C>T	uc002ozu.3	+	12	1791	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	BCAM_uc002ozt.1_Missense_Mutation_p.R583W	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	583					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCGCCAGCGGCGGGAGAAGGG	0.642													T	45322967	C	T	45322967	3	4	55	1	0	0	0	0	1	0	0	0	1344	759	27	1	1797	1	BCAM	19	45322967	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	3135221	45322967	13806016	79	3445											
FPR2	2358	broad.mit.edu	37	19	52272072	52272072	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:52272072G>A	uc002pxr.3	+	1	206	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR2_uc002pxs.4_Missense_Mutation_p.R54Q|FPR2_uc010epf.3_Missense_Mutation_p.R54Q|FPR2_uc021uyp.1_Missense_Mutation_p.R54Q	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	54					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTGGATTCCGGATGACACGC	0.562													A	52272072	G	A	52272072	3	1	55	1	0	0	0	0	1	0	0	0	6039	1116	39	2	163	2	FPR2	19	52272072	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	6949105	52272072	6856911	80	3446											
SPTLC3	55304	broad.mit.edu	37	20	13029756	13029756	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr20:13029756C>A	uc002wod.1	+	1	570	c.281C>A	c.(280-282)gCt>gAt	p.A94D	SPTLC3_uc002woc.3_Missense_Mutation_p.A94D	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	94					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGCAACGCAGCTGTGGAAAGA	0.423													A	13029756	C	A	13029756	3	1	55	1	0	0	0	0	1	0	0	0	15124	797	28	5	287	5	SPTLC3	20	13029756	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		13029756	49995764	81	3447											
PLCG1	5335	broad.mit.edu	37	20	39788360	39788360	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr20:39788360A>G	uc002xjp.1	+	1	453	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	PLCG1_uc002xjo.1_Missense_Mutation_p.Y111C	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	111	PH 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTCATTCTCTATGGAATGGAA	0.537													G	39788360	A	G	39788360	3	3	55	1	0	0	0	0	1	0	0	0	12035	449	16	4	338	4	PLCG1	20	39788360	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	26758604	39788360	23237160	82	3448											
RRP1B	23076	broad.mit.edu	37	21	45107441	45107441	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr21:45107441C>T	uc002zdk.3	+	12	1300	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	RRP1B_uc002zdl.3_5'UTR	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	396					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TGAAAGCAGTCTTCAAAAGAG	0.532													T	45107441	C	T	45107441	3	4	55	1	0	0	0	0	1	0	0	0	13688	913	32	3	1236	3	RRP1B	21	45107441	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		45107441	3022454	83	3449											
CABIN1	23523	broad.mit.edu	37	22	24487684	24487684	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr22:24487684G>A	uc002zzi.1	+	23	3800	c.3673G>A	c.(3673-3675)Gtt>Att	p.V1225I	CABIN1_uc021wnc.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzj.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzl.2_Missense_Mutation_p.V1225I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1225					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCACCCACCGTTTACTTGCT	0.612													A	24487684	G	A	24487684	3	1	55	1	0	0	0	0	1	0	0	0	2528	1145	40	1	3763	1	CABIN1	22	24487684	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		24487684	26816882	84	3450											
SHOX	6473	broad.mit.edu	37	X	591909	591909	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chrX:591909G>A	uc004cph.1	+	2	968	c.277_splice	c.e2+1	p.G93_splice	SHOX_uc004cpi.3_Splice_Site_p.G93_splice	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	93					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		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)				AGTGGCAGAAGGTAAGTTCCT	0.647													A	591909	G	A	591909	3	1	55	1	0	0	0	0	1	0	0	0	14288	1014	35	3	279	3	SHOX	23	591909	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		591909	154678651	85	3451											
FOXR2	139628	broad.mit.edu	37	X	55650926	55650926	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chrX:55650926A>C	uc004duo.3	+	0	1094	c.782A>C	c.(781-783)gAt>gCt	p.D261A		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	261					embryo development|organ development|pattern specification process|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAGGATGAAGATAATGCAAGA	0.517													C	55650926	A	C	55650926	3	2	55	1	0	0	0	0	1	0	0	0	6032	333	12	5	784	5	FOXR2	23	55650926	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	55059017	55650926	99619634	86	3452											
TMEM52	339456	broad.mit.edu	37	1	1849551	1849551	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:1849551C>A	uc001aij.2	-	4	436	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	TMEM52_uc001aii.2_Missense_Mutation_p.G119W	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	134						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCAGCTCCCCAAAGGGCAGG	0.637													A	1849551	C	A	1849551	3	1	56	1	0	0	0	0	1	0	0	0	16175	594	21	5	233	5	TMEM52	1	1849551	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		1849551	247401070	1	3453											
ESPN	83715	broad.mit.edu	37	1	6517297	6517297	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:6517297C>T	uc001amy.3	+	10	2547	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L	ESPN_uc001amz.3_Silent_p.L227L	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	793	Glu-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGCGGGACCTCCTGCGGAAGA	0.642													T	6517297	C	T	6517297	2	4	56	1	0	0	0	0	0	0	0	1	5254	842	30	3		3	ESPN	1	6517297	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	4667746	6517297	242733324	2	3454											
PRAMEF6	343068	broad.mit.edu	37	1	13366388	13366388	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:13366388G>C	uc001auu.1	+	2	932	c.832G>C	c.(832-834)Gtt>Ctt	p.V278L		NM_001010889	NP_001013425	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	278										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	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)		TATGAACTCTGTTTCTTTCCT	0.522													C	13366388	G	C	13366388	3	2	56	1	0	0	0	0	1	0	0	0	12438	1377	48	5	2281	5	PRAMEF6	1	13366388	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	6849091	13366388	235884233	3	3455											
ZNF683	257101	broad.mit.edu	37	1	26691247	26691247	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:26691247C>T	uc001bmg.1	-	3	908	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	ZNF683_uc001bmh.1_Missense_Mutation_p.G264S|ZNF683_uc009vsj.1_Missense_Mutation_p.G264S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGAGCTTGGCCAGAGGCTTGG	0.647													T	26691247	C	T	26691247	3	4	56	1	0	0	0	0	1	0	0	0	18087	594	21	3	736	3	ZNF683	1	26691247	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	13324859	26691247	222559374	4	3456											
KPNA6	23633	broad.mit.edu	37	1	32620313	32620317	+	Frame_Shift_Del	DEL	AGAGC	AGAGC	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:32620313_32620317delAGAGC	uc010ogy.2	+	1	171_175	c.144_148delAGAGC	c.(142-150)cgagagcaafs	p.R48fs	KPNA6_uc001bug.3_Frame_Shift_Del_p.R43fs|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Frame_Shift_Del_p.R40fs	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	43	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGCAGAAGCGAGAGCAACAAGTGAG	0.454													-	32620317	AGAGC	-	32620313	7	5	56	1	0	1	0	1	0	0	0	0	8434	291	11	0	135	0	KPNA6	1	32620313	Frame_Shift_Del	DEL	AGAGC	TCGA-06-0649-01B-01W-0348-08	5929066	32620313	216630308	5	3457											
CSMD2	114784	broad.mit.edu	37	1	34209005	34209005	+	Silent	SNP	G	G	A	rs141295499		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:34209005G>A	uc001bxm.1	-	13	2226	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	CSMD2_uc001bxn.1_Silent_p.P643P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	643	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCAGGACGGGCGCCTCGG	0.612													A	34209005	G	A	34209005	2	1	56	1	0	0	0	0	0	0	0	1	3945	1103	39	2		2	CSMD2	1	34209005	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	1588692	34209005	215041616	6	3458											
PTCH2	8643	broad.mit.edu	37	1	45307671	45307671	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:45307671G>C	uc010olf.2	-	1	125	c.113C>G	c.(112-114)gCt>gGt	p.A38G	PTCH2_uc021omv.1_Missense_Mutation_p.A38G|PTCH2_uc010olg.2_5'UTR	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	38					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGAAGTAAGCACGAAGCCA	0.552									Basal Cell Nevus syndrome				C	45307671	G	C	45307671	3	2	56	1	0	0	0	0	1	0	0	0	12731	971	34	5	3602	5	PTCH2	1	45307671	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	11098666	45307671	203942950	7	3459											
NBPF10	400818	broad.mit.edu	37	1	144615193	144615193	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:144615193C>T	uc009wig.1	+	1	257	c.63C>T	c.(61-63)aaC>aaT	p.N21N	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	21										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)		TAGAAATCAACGAGAAATTGC	0.522													T	144615193	C	T	144615193	2	4	56	1	0	0	0	0	0	0	0	1	10193	535	19	1		1	NBPF10	1	144615193	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	99307522	144615193	104635428	8	3460											
TCHH	7062	broad.mit.edu	37	1	152081057	152081057	+	Missense_Mutation	SNP	C	C	T	rs71585886		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:152081057C>T	uc009wne.1	-	2	4908	c.4636G>A	c.(4636-4638)Ggg>Agg	p.G1546R	TCHH_uc001ezp.2_Missense_Mutation_p.G1546R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1546	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTGTTGCCCGCGCTCCTGG	0.617													T	152081057	C	T	152081057	3	4	56	1	0	0	0	0	1	0	0	0	15697	652	23	2	1199	2	TCHH	1	152081057	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	7465864	152081057	97169564	9	3461											
SLAMF8	56833	broad.mit.edu	37	1	159802791	159802791	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:159802791C>T	uc001fue.4	+	2	703	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	165	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTATAGCTGGCGACGGGAGAC	0.537													T	159802791	C	T	159802791	4	4	56	1	0	0	0	0	0	1	0	0	14370	760	27	1	503	1	SLAMF8	1	159802791	Nonsense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	7721734	159802791	89447830	10	3462											
SOAT1	6646	broad.mit.edu	37	1	179310266	179310266	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:179310266T>G	uc001gml.3	+	6	832	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	SOAT1_uc010pni.2_Missense_Mutation_p.F136V|SOAT1_uc001gmm.3_Missense_Mutation_p.F143V|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.F136V	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	201					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AGTTCCCTATTTTCTGTTTCA	0.448													G	179310266	T	G	179310266	3	3	56	1	0	0	0	0	1	0	0	0	14910	1841	64	5	623	5	SOAT1	1	179310266	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	19507475	179310266	69940355	11	3463											
HMCN1	83872	broad.mit.edu	37	1	186088926	186088926	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:186088926C>T	uc001grq.1	+	78	12235	c.12006C>T	c.(12004-12006)aaC>aaT	p.N4002N	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4002	Ig-like C2-type 39.				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						TCATTCTGAACAATCCTATTT	0.388													T	186088926	C	T	186088926	2	4	56	1	0	0	0	0	0	0	0	1	7220	477	17	3		3	HMCN1	1	186088926	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	6778660	186088926	63161695	12	3464											
LBR	3930	broad.mit.edu	37	1	225598033	225598033	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:225598033C>T	uc001hoy.3	-	9	1448	c.1274G>A	c.(1273-1275)aGt>aAt	p.S425N	LBR_uc001hoz.3_Missense_Mutation_p.S425N	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	425					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAGCTGGAAACTATTAACTAA	0.443													T	225598033	C	T	225598033	3	4	56	1	0	0	0	0	1	0	0	0	8652	565	20	3	593	3	LBR	1	225598033	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	39509107	225598033	23652588	13	3465											
CRIM1	51232	broad.mit.edu	37	2	36740894	36740894	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:36740894G>A	uc002rpd.3	+	10	2042	c.1976G>A	c.(1975-1977)tGc>tAc	p.C659Y		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	659	VWFC 3.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGACAGTGCTGCCCATCATGT	0.562													A	36740894	G	A	36740894	3	1	56	1	0	0	0	0	1	0	0	0	3873	1319	46	3	2018	3	CRIM1	2	36740894	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		36740894	206458479	14	3466											
ZNF638	27332	broad.mit.edu	37	2	71592818	71592818	+	Silent	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:71592818T>G	uc002shx.3	+	5	2300	c.1977T>G	c.(1975-1977)gcT>gcG	p.A659A	ZNF638_uc010fec.2_Silent_p.A765A|ZNF638_uc010yqw.1_Silent_p.A238A|ZNF638_uc002shw.3_Silent_p.A659A|ZNF638_uc002shz.3_Silent_p.A659A|ZNF638_uc002shy.3_Silent_p.A659A|ZNF638_uc002sia.3_Silent_p.A659A|ZNF638_uc002sib.1_Silent_p.A659A	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	659					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGATAAAGCTGTTTCTCTCC	0.363													G	71592818	T	G	71592818	2	3	56	1	0	0	0	0	0	0	0	1	18052	1567	55	5		5	ZNF638	2	71592818	Silent	SNP	T	TCGA-06-0649-01B-01W-0348-08	34851924	71592818	171606555	15	3467											
SLC9A2	6549	broad.mit.edu	37	2	103324656	103324656	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:103324656C>A	uc002tca.3	+	11	2289	c.2147C>A	c.(2146-2148)cCa>cAa	p.P716Q		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	716						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CGCTTCTTGCCAGAACAGTTC	0.527													A	103324656	C	A	103324656	3	1	56	1	0	0	0	0	1	0	0	0	14712	594	21	5	2193	5	SLC9A2	2	103324656	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	31731838	103324656	139874717	16	3468											
UGGT1	56886	broad.mit.edu	37	2	128867271	128867271	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:128867271A>G	uc002tps.3	+	4	650	c.472A>G	c.(472-474)Act>Gct	p.T158A	UGGT1_uc010fme.1_Missense_Mutation_p.T33A|UGGT1_uc002tpr.3_Missense_Mutation_p.T134A	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	158					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGAAAGAAGACTTGTGAATC	0.388													G	128867271	A	G	128867271	3	3	56	1	0	0	0	0	1	0	0	0	16938	275	10	4	490	4	UGGT1	2	128867271	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	25542615	128867271	114332102	17	3469											
TTN	7273	broad.mit.edu	37	2	179641950	179641950	+	Silent	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:179641950C>A	uc021vsy.1	-	26	4965	c.4740G>T	c.(4738-4740)acG>acT	p.T1580T	TTN_uc021vsz.1_Silent_p.T1534T|TTN_uc021vta.1_Silent_p.T1534T|TTN_uc021vtb.1_Silent_p.T1534T|TTN_uc002unb.2_Silent_p.T1580T|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1580	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T1580T(3)|p.T1534T(3)		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)			TGGGGTTACCCGTAGCTCTGA	0.373													A	179641950	C	A	179641950	2	1	56	1	0	0	0	0	0	0	0	1	16732	639	23	5		5	TTN	2	179641950	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	50774679	179641950	63557423	18	3470											
PTH2R	5746	broad.mit.edu	37	2	209308179	209308179	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:209308179G>C	uc010zjb.2	+	5	935	c.649G>C	c.(649-651)Gga>Cga	p.G217R	PTH2R_uc002vdb.3_Missense_Mutation_p.G206R	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	206						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGCTCACATAGGAGTAAAGGA	0.413													C	209308179	G	C	209308179	3	2	56	1	0	0	0	0	1	0	0	0	12760	1001	35	5	638	5	PTH2R	2	209308179	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	29666229	209308179	33891194	19	3471											
TRPM8	79054	broad.mit.edu	37	2	234869493	234869493	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:234869493A>G	uc002vvh.3	+	11	1476	c.1436A>G	c.(1435-1437)gAg>gGg	p.E479G	TRPM8_uc010fyj.3_Missense_Mutation_p.E167G	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	479						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCTTTCTGGAGAATGGCTTG	0.483													G	234869493	A	G	234869493	3	3	56	1	0	0	0	0	1	0	0	0	16589	304	11	4	1478	4	TRPM8	2	234869493	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	25561314	234869493	8329880	20	3472											
COL6A3	1293	broad.mit.edu	37	2	238283454	238283454	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:238283454C>T	uc002vwl.2	-	7	3565	c.3280G>A	c.(3280-3282)Gct>Act	p.A1094T	COL6A3_uc002vwo.2_Missense_Mutation_p.A888T|COL6A3_uc010znj.1_Missense_Mutation_p.A487T|COL6A3_uc002vwq.3_Missense_Mutation_p.A888T|COL6A3_uc002vwr.3_Missense_Mutation_p.A687T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1094	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		TGGCGGACAGCGTTGACGACG	0.652													T	238283454	C	T	238283454	3	4	56	1	0	0	0	0	1	0	0	0	3701	768	27	1	6448	1	COL6A3	2	238283454	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	3413961	238283454	4915919	21	3473											
TGFBR2	7048	broad.mit.edu	37	3	30691812	30691812	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:30691812A>T	uc003ceo.3	+	2	696	c.314A>T	c.(313-315)aAg>aTg	p.K105M	TGFBR2_uc021wut.1_5'UTR|TGFBR2_uc003cen.3_Missense_Mutation_p.K130M	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	105					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CATGACCCCAAGCTCCCCTAC	0.443													T	30691812	A	T	30691812	3	4	56	1	0	0	0	0	1	0	0	0	15819	72	3	5	403	5	TGFBR2	3	30691812	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08		30691812	167330618	22	3474											
KBTBD5	131377	broad.mit.edu	37	3	42729720	42729720	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:42729720C>T	uc003clv.1	+	1	1339	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	413										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTCAACTCCATCTACGTGG	0.637													T	42729720	C	T	42729720	2	4	56	1	0	0	0	0	0	0	0	1	7996	581	21	3		3	KBTBD5	3	42729720	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	12037908	42729720	155292710	23	3475											
MORC1	27136	broad.mit.edu	37	3	108819325	108819325	+	Silent	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:108819325G>T	uc003dxl.3	-	4	340	c.253C>A	c.(253-255)Cga>Aga	p.R85R	MORC1_uc011bhn.2_Silent_p.R85R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	85					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTTGGATCGTCCAAAGTAA	0.408													T	108819325	G	T	108819325	2	4	56	1	0	0	0	0	0	0	0	1	9701	1153	40	5		5	MORC1	3	108819325	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	66089605	108819325	89203105	24	3476											
RFC4	5984	broad.mit.edu	37	3	186508171	186508173	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:186508171_186508173delCAT	uc003fqz.3	-	8	1047_1049	c.824_826delATG	c.(823-828)gatgga>gga	p.D275del	RFC4_uc011bsc.2_In_Frame_Del_p.D275del	NM_002916	NP_853551	P35249	RFC4_HUMAN	Homo sapiens replication factor C (activator 1) 4, 37kDa (RFC4), transcript variant 1, mRNA.	275					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.D275G(2)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GCAAATACTCCATCAATTTTCTC	0.424													-	186508173	CAT	-	186508171	7	5	56	1	0	1	0	1	0	0	0	0	13247	603	21	0	277	0	RFC4	3	186508171	In_Frame_Del	DEL	CAT	TCGA-06-0649-01B-01W-0348-08	77688846	186508171	11514259	25	3477											
FBXL5	26234	broad.mit.edu	37	4	15632339	15632339	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:15632339T>G	uc003goc.2	-	5	967	c.842A>C	c.(841-843)gAa>gCa	p.E281A	FBXL5_uc010idw.2_Missense_Mutation_p.E194A|FBXL5_uc003gob.2_Missense_Mutation_p.E143A|FBXL5_uc010idx.2_Missense_Mutation_p.E280A|FBXL5_uc003god.2_Missense_Mutation_p.E264A|FBXL5_uc010idy.2_Missense_Mutation_p.E281A	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	281					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCACGACTTTCATCTTTCCT	0.343													G	15632339	T	G	15632339	3	3	56	1	0	0	0	0	1	0	0	0	5722	1783	62	5	1257	5	FBXL5	4	15632339	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		15632339	175521937	26	3478											
CLOCK	9575	broad.mit.edu	37	4	56336906	56336906	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:56336906G>T	uc003haz.1	-	8	1342	c.416C>A	c.(415-417)aCt>aAt	p.T139N	CLOCK_uc003hba.1_Missense_Mutation_p.T139N	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	139	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AAGTAATGAAGTTACACTCTC	0.299													T	56336906	G	T	56336906	3	4	56	1	0	0	0	0	1	0	0	0	3549	1029	36	5	2188	5	CLOCK	4	56336906	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	40704567	56336906	134817370	27	3479											
UGT2B7	7364	broad.mit.edu	37	4	69962642	69962642	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:69962642A>T	uc003heg.4	+	0	450	c.404A>T	c.(403-405)aAa>aTa	p.K135I	UGT2B7_uc010ihq.3_Missense_Mutation_p.K135I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	135					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAAATAAGAAATTTATGAAA	0.313													T	69962642	A	T	69962642	3	4	56	1	0	0	0	0	1	0	0	0	16959	14	1	5	406	5	UGT2B7	4	69962642	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	13625736	69962642	121191634	28	3480											
UGT2B4	7363	broad.mit.edu	37	4	70351106	70351106	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:70351106G>T	uc003hek.4	-	4	1177	c.1130C>A	c.(1129-1131)gCc>gAc	p.A377D	UGT2B4_uc011cap.2_Missense_Mutation_p.A241D|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	377					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GATGCCATTGGCTCCACCATG	0.413													T	70351106	G	T	70351106	3	4	56	1	0	0	0	0	1	0	0	0	16958	1203	42	5	464	5	UGT2B4	4	70351106	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	388464	70351106	120803170	29	3481											
ANK2	287	broad.mit.edu	37	4	114274747	114274747	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:114274747T>C	uc003ibe.4	+	37	5073	c.4973T>C	c.(4972-4974)gTt>gCt	p.V1658A	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.V1673A	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1625					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		CTGCAGACAGTTCAAGATAAG	0.473													C	114274747	T	C	114274747	3	2	56	1	0	0	0	0	1	0	0	0	621	1725	60	4	5188	4	ANK2	4	114274747	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	43923641	114274747	76879529	30	3482											
CTNND2	1501	broad.mit.edu	37	5	11236806	11236806	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr5:11236806G>A	uc003jfa.1	-	9	1903	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	CTNND2_uc010itt.2_Silent_p.A495A|CTNND2_uc011cmy.1_Silent_p.A249A|CTNND2_uc011cmz.1_Silent_p.A153A|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.A153A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	586					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A586T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACTGACCTCGGCTTTAATTT	0.443													A	11236806	G	A	11236806	2	1	56	1	0	0	0	0	0	0	0	1	4020	1103	39	2		2	CTNND2	5	11236806	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08		11236806	169678454	31	3483											
SLIT3	6586	broad.mit.edu	37	5	168098222	168098222	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr5:168098222C>T	uc010jjg.3	-	33	4549	c.4129G>A	c.(4129-4131)Gac>Aac	p.D1377N	SLIT3_uc003mab.3_Missense_Mutation_p.D1370N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1370	EGF-like 8.				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			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)			AGGCAGGGGTCCCGGGCCTCC	0.672													T	168098222	C	T	168098222	3	4	56	1	0	0	0	0	1	0	0	0	14741	855	30	3	475	3	SLIT3	5	168098222	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	156861416	168098222	12817038	32	3484											
KIF13A	63971	broad.mit.edu	37	6	17826293	17826293	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:17826293A>G	uc003ncg.4	-	14	1755	c.1595T>C	c.(1594-1596)cTa>cCa	p.L532P	KIF13A_uc003ncf.3_Missense_Mutation_p.L532P|KIF13A_uc003nch.4_Missense_Mutation_p.L532P|KIF13A_uc003nci.4_Missense_Mutation_p.L532P|KIF13A_uc003ncj.3_Missense_Mutation_p.L208P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	532					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATTTCCCCATAGGATTCGGTC	0.398													G	17826293	A	G	17826293	3	3	56	1	0	0	0	0	1	0	0	0	8274	420	15	4	3947	4	KIF13A	6	17826293	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08		17826293	153288774	33	3485											
OR2B3	442184	broad.mit.edu	37	6	29054831	29054831	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:29054831A>T	uc003nlx.3	-	0	260	c.195T>A	c.(193-195)aaT>aaA	p.N65K		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGATGGAGAGATTAGTGAGAA	0.398													T	29054831	A	T	29054831	3	4	56	1	0	0	0	0	1	0	0	0	10990	330	12	5	750	5	OR2B3	6	29054831	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	11228538	29054831	142060236	34	3486											
BTNL2	56244	broad.mit.edu	37	6	32372722	32372722	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:32372722C>T	uc003obg.1	-	1	421	c.421G>A	c.(421-423)Gta>Ata	p.V141I	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	141						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCACCTGCTACTTTGAGCAGC	0.448													T	32372722	C	T	32372722	3	4	56	1	0	0	0	0	1	0	0	0	1565	565	20	3	966	3	BTNL2	6	32372722	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	3317891	32372722	138742345	35	3487											
CGA	1081	broad.mit.edu	37	6	87796012	87796012	+	Missense_Mutation	SNP	C	C	T	rs145503313		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:87796012C>T	uc003plj.2	-	2	371	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	CGA_uc021zci.1_Missense_Mutation_p.V108I	NM_000735	NP_000726	P01215	GLHA_HUMAN	Homo sapiens glycoprotein hormones, alpha polypeptide (CGA), transcript variant 2, mRNA.	77					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.V77I(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TCTGAGGTGACGTTCTTTTGG	0.483													T	87796012	C	T	87796012	3	4	56	1	0	0	0	0	1	0	0	0	3295	536	19	1	129	1	CGA	6	87796012	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	55423290	87796012	83319055	36	3488											
LAMA2	3908	broad.mit.edu	37	6	129813614	129813614	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:129813614C>T	uc021zfb.1	+	57	8335	c.8230C>T	c.(8230-8232)Cca>Tca	p.P2744S	LAMA2_uc003qbn.3_Missense_Mutation_p.P2742S|LAMA2_uc003qbo.3_Missense_Mutation_p.P2738S|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2744					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACGCCCACCCCAGTTCTGAC	0.443													T	129813614	C	T	129813614	3	4	56	1	0	0	0	0	1	0	0	0	8606	623	22	3	8460	3	LAMA2	6	129813614	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	42017602	129813614	41301453	37	3489											
PLG	5340	broad.mit.edu	37	6	161127532	161127532	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:161127532A>G	uc003qtm.4	+	1	255	c.143A>G	c.(142-144)gAa>gGa	p.E48G	PLG_uc021zhr.1_Missense_Mutation_p.E48G	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	48	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.E47K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTATAGAAGAATGTGCAGCA	0.468													G	161127532	A	G	161127532	3	3	56	1	0	0	0	0	1	0	0	0	12086	246	9	4	149	4	PLG	6	161127532	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	31313918	161127532	9987535	38	3490											
C7orf41	222166	broad.mit.edu	37	7	30174862	30174862	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:30174862C>T	uc011kab.1	+	0	311	c.110C>T	c.(109-111)cCc>cTc	p.P37L	C7orf41_uc003tar.1_Missense_Mutation_p.P37L	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	Homo sapiens chromosome 7 open reading frame 41 (C7orf41), mRNA.	37										NS(1)|large_intestine(2)	3						TACGCCGACCCCGGCGTCTCC	0.642													T	30174862	C	T	30174862	3	4	56	1	0	0	0	0	1	0	0	0	2391	623	22	3	112	3	C7orf41	7	30174862	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		30174862	128963801	39	3491											
PDE1C	5137	broad.mit.edu	37	7	31855588	31855588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:31855588C>T	uc003tcm.2	-	14	2224	c.1763G>A	c.(1762-1764)cGt>cAt	p.R588H	PDE1C_uc003tcn.1_Missense_Mutation_p.R588H|PDE1C_uc003tco.2_Missense_Mutation_p.R648H|PDE1C_uc003tcr.3_Missense_Mutation_p.R588H|PDE1C_uc003tcs.3_Missense_Mutation_p.R588H	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	588					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			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)			GTTTTTCCCACGAGGGTTGTC	0.468													T	31855588	C	T	31855588	3	4	56	1	0	0	0	0	1	0	0	0	11635	536	19	1	153	1	PDE1C	7	31855588	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1680726	31855588	127283075	40	3492											
C7orf10	79783	broad.mit.edu	37	7	40228112	40228112	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:40228112G>A	uc022acd.1	+	3	290	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	C7orf10_uc003thn.2_Missense_Mutation_p.R89Q|C7orf10_uc003tho.2_Missense_Mutation_p.R89Q	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	89							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GATGATACACGAACTTGGGGG	0.338													A	40228112	G	A	40228112	3	1	56	1	0	0	0	0	1	0	0	0	2376	1058	37	2	280	2	C7orf10	7	40228112	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	8372524	40228112	118910551	41	3493											
EGFR	1956	broad.mit.edu	37	7	55223624	55223624	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:55223624G>A	uc003tqk.3	+	7	1237	c.991G>A	c.(991-993)Ggg>Agg	p.G331R	EGFR_uc003tqh.3_Missense_Mutation_p.G331R|EGFR_uc003tqi.3_Missense_Mutation_p.G331R|EGFR_uc003tqj.3_Missense_Mutation_p.G331R|EGFR_uc022adm.1_Missense_Mutation_p.G331R|EGFR_uc010kzg.2_Missense_Mutation_p.G286R|EGFR_uc022adn.1_Missense_Mutation_p.G286R|EGFR_uc011kco.2_Missense_Mutation_p.G278R|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	331					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G331G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAAGTGCGAAGGGCCTTGCCG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55223624	G	A	55223624	3	1	56	1	0	0	0	0	1	0	0	0	4967	1000	35	3	1021	3	EGFR	7	55223624	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	14995512	55223624	103915039	42	3494											
WBSCR17	64409	broad.mit.edu	37	7	71130459	71130459	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:71130459A>T	uc003tvy.3	+	6	1144	c.1144A>T	c.(1144-1146)Aag>Tag	p.K382*	WBSCR17_uc003tvz.3_Nonsense_Mutation_p.K81*	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	382						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATTGAGCGGAAGAAGAAGCC	0.488													T	71130459	A	T	71130459	4	4	56	1	0	0	0	0	0	1	0	0	17261	247	9	5	1170	5	WBSCR17	7	71130459	Nonsense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	15906835	71130459	88008204	43	3495											
MLXIPL	51085	broad.mit.edu	37	7	73011056	73011056	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:73011056G>A	uc003tyn.1	-	10	1783	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.R579W|MLXIPL_uc003tym.1_Missense_Mutation_p.R579W|MLXIPL_uc003tyl.1_Missense_Mutation_p.R579W|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.R485W|MLXIPL_uc003tyq.1_Missense_Mutation_p.R346W	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	579					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGTGGCCGGGGCGGTGTA	0.692													A	73011056	G	A	73011056	3	1	56	1	0	0	0	0	1	0	0	0	9637	1115	39	2	851	2	MLXIPL	7	73011056	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	1880597	73011056	86127607	44	3496											
SEMA3C	10512	broad.mit.edu	37	7	80390932	80390932	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:80390932C>A	uc011kgw.2	-	14	1618	c.1539_splice	c.e14+1	p.K513_splice	SEMA3C_uc003uhj.3_Splice_Site_p.K495_splice	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	495					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAGTTTTTACCTTTTTAGATG	0.229													A	80390932	C	A	80390932	3	1	56	1	0	0	0	0	1	0	0	0	14026	695	24	5	790	5	SEMA3C	7	80390932	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	7379876	80390932	78747731	45	3497											
PCLO	27445	broad.mit.edu	37	7	82581469	82581469	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:82581469C>T	uc003uhx.2	-	4	9089	c.8800G>A	c.(8800-8802)Gca>Aca	p.A2934T	PCLO_uc003uhv.2_Missense_Mutation_p.A2934T|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2865					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						CTTCTCCCTGCGGTTAAATCA	0.433													T	82581469	C	T	82581469	3	4	56	1	0	0	0	0	1	0	0	0	11583	768	27	1	6729	1	PCLO	7	82581469	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	2190537	82581469	76557194	46	3498											
SAMD9L	219285	broad.mit.edu	37	7	92761300	92761300	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:92761300T>C	uc003umh.1	-	4	5201	c.3985A>G	c.(3985-3987)Agg>Ggg	p.R1329G	SAMD9L_uc003umj.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umi.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umk.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1329G|SAMD9L_uc022ahh.1_Missense_Mutation_p.R1329G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1329										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTTTTTCCTGCAATTCTCC	0.388													C	92761300	T	C	92761300	3	2	56	1	0	0	0	0	1	0	0	0	13827	1579	55	4	773	4	SAMD9L	7	92761300	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	10179831	92761300	66377363	47	3499											
HEPACAM2	253012	broad.mit.edu	37	7	92848596	92848596	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:92848596G>A	uc011khy.2	-	2	340	c.317C>T	c.(316-318)tCt>tTt	p.S106F	HEPACAM2_uc003uml.3_Missense_Mutation_p.S71F|HEPACAM2_uc010lff.3_Missense_Mutation_p.S71F|HEPACAM2_uc003umm.3_Missense_Mutation_p.S83F	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	83						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTATTCACAGAGCCCAGTAA	0.478													A	92848596	G	A	92848596	3	1	56	1	0	0	0	0	1	0	0	0	7053	942	33	3	1176	3	HEPACAM2	7	92848596	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	87296	92848596	66290067	48	3500											
NPTX2	4885	broad.mit.edu	37	7	98254367	98254367	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:98254367C>T	uc003upl.2	+	2	954	c.777C>T	c.(775-777)agC>agT	p.S259S		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	259	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGGTCCAGCGCCTCACCAG	0.607													T	98254367	C	T	98254367	2	4	56	1	0	0	0	0	0	0	0	1	10603	767	27	1		1	NPTX2	7	98254367	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	5405771	98254367	60884296	49	3501											
LAMB4	22798	broad.mit.edu	37	7	107720190	107720190	+	Silent	SNP	A	A	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:107720190A>C	uc010ljo.1	-	14	1827	c.1743T>G	c.(1741-1743)gtT>gtG	p.V581V	LAMB4_uc003vey.2_Silent_p.V581V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	581	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCTCTCCTAAAACAACGTGAA	0.502													C	107720190	A	C	107720190	2	2	56	1	0	0	0	0	0	0	0	1	8613	1	1	5		5	LAMB4	7	107720190	Silent	SNP	A	TCGA-06-0649-01B-01W-0348-08	9465823	107720190	51418473	50	3502											
EPHA1	2041	broad.mit.edu	37	7	143095767	143095767	+	Silent	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:143095767G>C	uc003wcz.3	-	5	1350	c.1263C>G	c.(1261-1263)gcC>gcG	p.A421A		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	421	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCCATTTTGGGCTTCCACAT	0.607													C	143095767	G	C	143095767	2	2	56	1	0	0	0	0	0	0	0	1	5165	1219	43	5		5	EPHA1	7	143095767	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	35375577	143095767	16042896	51	3503											
GIMAP4	55303	broad.mit.edu	37	7	150269791	150269791	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:150269791C>T	uc003whl.3	+	2	715	c.633C>T	c.(631-633)cgC>cgT	p.R211R	GIMAP4_uc011kuu.2_Silent_p.R72R|GIMAP4_uc011kuv.2_Silent_p.R225R	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	211							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATCCAGCGCGTGGTGAGGG	0.542													T	150269791	C	T	150269791	2	4	56	1	0	0	0	0	0	0	0	1	6381	755	27	1		1	GIMAP4	7	150269791	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	7174024	150269791	8868872	52	3504											
KCNU1	157855	broad.mit.edu	37	8	36693858	36693858	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:36693858T>A	uc010lvw.3	+	12	1427	c.1340T>A	c.(1339-1341)aTa>aAa	p.I447K	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	447	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAATCATCATACAGATACTG	0.358													A	36693858	T	A	36693858	3	1	56	1	0	0	0	0	1	0	0	0	8093	1406	49	5	1390	5	KCNU1	8	36693858	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		36693858	109670164	53	3505											
TMEM70	54968	broad.mit.edu	37	8	74893724	74893724	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:74893724A>C	uc003yab.3	+	2	791	c.651A>C	c.(649-651)aaA>aaC	p.K217N	TMEM70_uc022awa.1_Non-coding_Transcript|TMEM70_uc003yac.3_3'UTR	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	217					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		p.T216I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTAAAACAAAATCACTGTTAG	0.343													C	74893724	A	C	74893724	3	2	56	1	0	0	0	0	1	0	0	0	16196	98	4	5	669	5	TMEM70	8	74893724	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	38199866	74893724	71470298	54	3506											
KIAA0196	9897	broad.mit.edu	37	8	126056120	126056120	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:126056120C>T	uc003yrt.3	-	22	3126	c.2797G>A	c.(2797-2799)Gcc>Acc	p.A933T	KIAA0196_uc011lir.2_Missense_Mutation_p.A785T	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	933					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	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)			TTGGCAATGGCGGAAAAATAA	0.353													T	126056120	C	T	126056120	3	4	56	1	0	0	0	0	1	0	0	0	8161	768	27	1	710	1	KIAA0196	8	126056120	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	51162396	126056120	20307902	55	3507											
GPR20	2843	broad.mit.edu	37	8	142367229	142367229	+	Silent	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:142367229C>A	uc022bby.1	-	0	795	c.795G>T	c.(793-795)gcG>gcT	p.A265A	GPR20_uc003ywf.3_Silent_p.A265A	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	265						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGGGCCACAGCGCCACGGCCA	0.657													A	142367229	C	A	142367229	2	1	56	1	0	0	0	0	0	0	0	1	6680	755	27	5		5	GPR20	8	142367229	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	16311109	142367229	3996793	56	3508											
SMARCA2	6595	broad.mit.edu	37	9	2104169	2104169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:2104169G>A	uc003zhc.3	+	23	3391	c.3292_splice	c.e23+1	p.G1098_splice	SMARCA2_uc003zhd.3_Splice_Site_p.G1098_splice|SMARCA2_uc010mha.3_Splice_Site_p.G1031_splice	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1098	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACGCCTTGATGGTAAGTGCAT	0.438													A	2104169	G	A	2104169	3	1	56	1	0	0	0	0	1	0	0	0	14769	1362	47	3	3378	3	SMARCA2	9	2104169	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		2104169	139109262	57	3509											
KIAA2026	158358	broad.mit.edu	37	9	5944873	5944874	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:5944873_5944874insT	uc003zjq.4	-	4	2595_2596	c.2379_2380insA	c.(2377-2382)aaatcgfs	p.K793fs	KIAA2026_uc010mht.3_Intron	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	793										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACACCTACCGATTTTTTTCTAC	0.307													T	5944874	-	T	5944873	7	5	56	1	0	1	1	0	0	0	0	0	8270	333	12	0	3947	0	KIAA2026	9	5944873	Frame_Shift_Ins	INS	-	TCGA-06-0649-01B-01W-0348-08	3840704	5944873	135268558	58	3510											
TRPM3	80036	broad.mit.edu	37	9	73152156	73152156	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:73152156G>T	uc004aid.3	-	24	4081	c.3837C>A	c.(3835-3837)aaC>aaA	p.N1279K	TRPM3_uc004ahu.3_Missense_Mutation_p.N1121K|TRPM3_uc004ahv.3_Missense_Mutation_p.N1081K|TRPM3_uc004ahw.3_Missense_Mutation_p.N1151K|TRPM3_uc004ahx.3_Missense_Mutation_p.N1138K|TRPM3_uc004ahy.3_Missense_Mutation_p.N1141K|TRPM3_uc004ahz.3_Missense_Mutation_p.N1128K|TRPM3_uc004aia.3_Missense_Mutation_p.N1126K|TRPM3_uc004aib.3_Missense_Mutation_p.N1116K|TRPM3_uc004aic.3_Missense_Mutation_p.N1279K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1304						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCGGATTTTGTTGGACTCGG	0.627													T	73152156	G	T	73152156	3	4	56	1	0	0	0	0	1	0	0	0	16584	1368	48	5	1290	5	TRPM3	9	73152156	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	67207283	73152156	68061275	59	3511											
TRPM6	140803	broad.mit.edu	37	9	77377948	77377948	+	Silent	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:77377948A>G	uc004ajl.1	-	25	3877	c.3639T>C	c.(3637-3639)gaT>gaC	p.D1213D	TRPM6_uc004ajk.1_Silent_p.D1208D|TRPM6_uc022bib.1_Silent_p.D1208D|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.D169D	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1213					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q1212*(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						GGGCAGAGAGATCCTGCAGGT	0.463													G	77377948	A	G	77377948	2	3	56	1	0	0	0	0	0	0	0	1	16587	330	12	4		4	TRPM6	9	77377948	Silent	SNP	A	TCGA-06-0649-01B-01W-0348-08	4225792	77377948	63835483	60	3512											
PCSK5	5125	broad.mit.edu	37	9	78969093	78969093	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:78969093C>A	uc004akc.2	+	35	5669	c.5131C>A	c.(5131-5133)Ccc>Acc	p.P1711T		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	776					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACCTCTGATCCCCCCAGTGC	0.612													A	78969093	C	A	78969093	3	1	56	1	0	0	0	0	1	0	0	0	11603	870	30	5		5	PCSK5	9	78969093	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1591145	78969093	62244338	61	3513											
TTC16	158248	broad.mit.edu	37	9	130489287	130489287	+	Silent	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:130489287G>T	uc004brq.1	+	10	1531	c.1464G>T	c.(1462-1464)tcG>tcT	p.S488S	PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Silent_p.S475S|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Silent_p.S84S	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	488							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGGGCATGTCGGTGGAGGAGG	0.642													T	130489287	G	T	130489287	2	4	56	1	0	0	0	0	0	0	0	1	16680	1103	39	5		5	TTC16	9	130489287	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	51520194	130489287	10724144	62	3514											
RXRA	6256	broad.mit.edu	37	9	137309139	137309139	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:137309139A>T	uc004cfb.2	+	4	908	c.746A>T	c.(745-747)tAc>tTc	p.Y249F	RXRA_uc004cfc.1_Missense_Mutation_p.Y152F|RXRA_uc004cfd.1_Missense_Mutation_p.Y20F	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	249	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.T248T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	ACCGAGACCTACGTGGAGGCA	0.622													T	137309139	A	T	137309139	3	4	56	1	0	0	0	0	1	0	0	0	13763	391	14	5	764	5	RXRA	9	137309139	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	6819852	137309139	3904292	63	3515											
ERCC6	2074	broad.mit.edu	37	10	50667268	50667268	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:50667268T>C	uc001jhs.4	-	20	4229	c.4075A>G	c.(4075-4077)Aaa>Gaa	p.K1359E	ERCC6_uc009xod.3_Missense_Mutation_p.K519E|ERCC6_uc010qgr.2_Missense_Mutation_p.K729E|ERCC6_uc001jhr.4_Missense_Mutation_p.K727E	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1359					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCTCCTTTTTCATGATGCCA	0.443								Direct reversal of damage;Nucleotide excision repair (NER)					C	50667268	T	C	50667268	3	2	56	1	0	0	0	0	1	0	0	0	5217	1792	62	4	410	4	ERCC6	10	50667268	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		50667268	84867479	64	3516											
PCDH15	65217	broad.mit.edu	37	10	55582616	55582616	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:55582616G>A	uc010qhy.1	-	34	5286	c.4891C>T	c.(4891-4893)Cca>Tca	p.P1631S	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1626S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1601S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1621S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1584S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1555S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1626S|PCDH15_uc010qia.1_Missense_Mutation_p.P1604S|PCDH15_uc001jju.1_Missense_Mutation_p.P1624S|PCDH15_uc010qib.1_Missense_Mutation_p.P1601S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1624					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.A1631V(1)		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)				GTAAGCAATGGATTGCTGCTA	0.418										HNSCC(58;0.16)			A	55582616	G	A	55582616	3	1	56	1	0	0	0	0	1	0	0	0	11511	1174	41	3	2607	3	PCDH15	10	55582616	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	4915348	55582616	79952131	65	3517											
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Missense_Mutation	SNP	C	C	G	rs121913292		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:89692904C>G	uc001kfb.3	+	4	1420	c.388C>G	c.(388-390)Cga>Gga	p.R130G	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89692904	C	G	89692904	3	3	56	1	0	0	0	0	1	0	0	0	12738	528	19	5	406	5	PTEN	10	89692904	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	34110288	89692904	45841843	66	3518											
HTR7	3363	broad.mit.edu	37	10	92509172	92509172	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:92509172G>A	uc001kha.3	-	1	962	c.719C>T	c.(718-720)aCg>aTg	p.T240M	HTR7_uc001kgz.3_Missense_Mutation_p.T240M|HTR7_uc001khb.3_Missense_Mutation_p.T240M	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	240					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGAGTAAATCGTATAGCCAAA	0.473													A	92509172	G	A	92509172	3	1	56	1	0	0	0	0	1	0	0	0	7452	1145	40	1	736	1	HTR7	10	92509172	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	2816268	92509172	43025575	67	3519											
AFAP1L2	84632	broad.mit.edu	37	10	116060363	116060363	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:116060363G>A	uc001lbn.3	-	13	1930	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	AFAP1L2_uc001lbo.3_Silent_p.V543V|AFAP1L2_uc010qse.2_Silent_p.V596V|AFAP1L2_uc001lbp.3_Silent_p.V571V|AFAP1L2_uc001lbr.1_Silent_p.V543V|AFAP1L2_uc001lbm.3_Intron|AFAP1L2_uc010qsd.2_Silent_p.V109V|AFAP1L2_uc001lbq.1_Silent_p.V65V	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	543					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAAAGGACTTGACAGGTGTGA	0.602													A	116060363	G	A	116060363	2	1	56	1	0	0	0	0	0	0	0	1	355	1277	45	3		3	AFAP1L2	10	116060363	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	23551191	116060363	19474384	68	3520											
ATRNL1	26033	broad.mit.edu	37	10	117607492	117607492	+	Silent	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:117607492T>G	uc001lcg.3	+	27	4394	c.4008T>G	c.(4006-4008)ccT>ccG	p.P1336P	ATRNL1_uc010qsm.2_Silent_p.P465P|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1336						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCCTCCCCCTGGGCAGTCAG	0.468													G	117607492	T	G	117607492	2	3	56	1	0	0	0	0	0	0	0	1	1207	1567	55	5		5	ATRNL1	10	117607492	Silent	SNP	T	TCGA-06-0649-01B-01W-0348-08	1547129	117607492	17927255	69	3521											
MKI67	4288	broad.mit.edu	37	10	129913850	129913850	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:129913850T>A	uc001lke.3	-	6	1017	c.822A>T	c.(820-822)aaA>aaT	p.K274N	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	274					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGCACTTTCTTTCTCTGTTG	0.443													A	129913850	T	A	129913850	3	1	56	1	0	0	0	0	1	0	0	0	9598	1606	56	5	8984	5	MKI67	10	129913850	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	12306358	129913850	5620897	70	3522											
CHRNA10	57053	broad.mit.edu	37	11	3687530	3687530	+	Missense_Mutation	SNP	C	C	T	rs148252978		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:3687530C>T	uc001lyf.3	-	4	1232	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	CHRNA10_uc010qxt.2_Missense_Mutation_p.R181Q|CHRNA10_uc010qxu.2_Missense_Mutation_p.R181Q	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	387					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCACAGACATCGTGGCTCGTG	0.667													T	3687530	C	T	3687530	3	4	56	1	0	0	0	0	1	0	0	0	3382	884	31	2	196	2	CHRNA10	11	3687530	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		3687530	131318986	71	3523											
OR5I1	10798	broad.mit.edu	37	11	55703265	55703265	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:55703265G>A	uc010ris.2	-	0	612	c.612C>T	c.(610-612)taC>taT	p.Y204Y		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTGAGCTGCCGTATGTGGAGA	0.403													A	55703265	G	A	55703265	2	1	56	1	0	0	0	0	0	0	0	1	11164	1140	40	1		1	OR5I1	11	55703265	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	52015735	55703265	79303251	72	3524											
TCN1	6947	broad.mit.edu	37	11	59630104	59630104	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:59630104G>T	uc001noj.2	-	2	449	c.351C>A	c.(349-351)caC>caA	p.H117Q		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	117					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			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)	TGTCGATCAGGTGGTAATCAT	0.383													T	59630104	G	T	59630104	3	4	56	1	0	0	0	0	1	0	0	0	15703	1252	44	5	978	5	TCN1	11	59630104	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	3926839	59630104	75376412	73	3525											
FAT3	120114	broad.mit.edu	37	11	92624150	92624150	+	Silent	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:92624150G>C	uc001pdj.4	+	24	13562	c.13545G>C	c.(13543-13545)tcG>tcC	p.S4515S	FAT3_uc001pdi.4_Silent_p.S987S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4547					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				CCTCATCCTCGGATGTGTCTG	0.557										TCGA Ovarian(4;0.039)			C	92624150	G	C	92624150	2	2	56	1	0	0	0	0	0	0	0	1	5691	1103	39	5		5	FAT3	11	92624150	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	32994046	92624150	42382366	74	3526											
MMP20	9313	broad.mit.edu	37	11	102477401	102477401	+	Missense_Mutation	SNP	C	C	T	rs141875245	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:102477401C>T	uc001phc.3	-	5	831	c.818G>A	c.(817-819)cGg>cAg	p.R273Q		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	273					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GAATACTTTCCGAGGTCCTAG	0.522													T	102477401	C	T	102477401	3	4	56	1	0	0	0	0	1	0	0	0	9659	652	23	2	653	2	MMP20	11	102477401	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	9853251	102477401	32529115	75	3527											
ARHGAP32	9743	broad.mit.edu	37	11	128994764	128994764	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:128994764A>G	uc009zcp.3	-	2	251	c.251T>C	c.(250-252)aTt>aCt	p.I84T	ARHGAP32_uc009zcq.2_Missense_Mutation_p.I44T	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	84					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTCCAGGAATCTCTGGAAC	0.328													G	128994764	A	G	128994764	3	3	56	1	0	0	0	0	1	0	0	0	881	101	4	4	6092	4	ARHGAP32	11	128994764	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	26517363	128994764	6011752	76	3528											
CACNA1C	775	broad.mit.edu	37	12	2786282	2786282	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:2786282G>T	uc009zdu.1	+	41	5308	c.4995G>T	c.(4993-4995)aaG>aaT	p.K1665N	CACNA1C_uc001qkc.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qke.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K1625N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K1658N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K1623N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K1625N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K1665N|CACNA1C_uc001qkj.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkk.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkm.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qko.2_Missense_Mutation_p.K1637N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K1645N|CACNA1C_uc001qku.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K1634N|CACNA1C_uc001qks.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K1636N|CACNA1C_uc009zdv.1_Missense_Mutation_p.K1614N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qki.1_Missense_Mutation_p.K1353N|CACNA1C_uc010sea.1_Missense_Mutation_p.K308N|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1665					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			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)	CCGTTGGCAAGTTCTACGCCA	0.527													T	2786282	G	T	2786282	3	4	56	1	0	0	0	0	1	0	0	0	2540	1020	36	5	5392	5	CACNA1C	12	2786282	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		2786282	131065613	77	3529											
KLRG1	10219	broad.mit.edu	37	12	9144889	9144889	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:9144889delA	uc001qvh.3	+	1	181	c.170delA	c.(169-171)cagfs	p.Q57fs	KLRG1_uc001qvg.3_Frame_Shift_Del_p.Q57fs	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	57					cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTGCTATACCAGTGGATCCTG	0.398													-	9144889	A	-	9144889	7	5	56	1	0	1	0	1	0	0	0	0	8421	188	7	0	176	0	KLRG1	12	9144889	Frame_Shift_Del	DEL	A	TCGA-06-0649-01B-01W-0348-08	6358607	9144889	124707006	78	3530											
PZP	5858	broad.mit.edu	37	12	9345129	9345129	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:9345129C>T	uc001qvl.3	-	11	1490	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S	PZP_uc009zgl.3_Silent_p.S356S	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACTGAGCTCCGATAACTCTC	0.483													T	9345129	C	T	9345129	2	4	56	1	0	0	0	0	0	0	0	1	12869	639	23	2		2	PZP	12	9345129	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	200240	9345129	124506766	79	3531											
GUCY2C	2984	broad.mit.edu	37	12	14827688	14827688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:14827688G>A	uc001rcd.3	-	7	1092	c.955C>T	c.(955-957)Cga>Tga	p.R319*	GUCY2C_uc009zhz.2_Nonsense_Mutation_p.R319*	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	319					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GCAAAGTCTCGTTTTGTCTAA	0.363													A	14827688	G	A	14827688	4	1	56	1	0	0	0	0	0	1	0	0	6896	1153	40	1	2346	1	GUCY2C	12	14827688	Nonsense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	5482559	14827688	119024207	80	3532											
ARHGAP9	64333	broad.mit.edu	37	12	57868660	57868660	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:57868660C>T	uc001sod.3	-	15	2112	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.R366K|ARHGAP9_uc001soa.3_Missense_Mutation_p.R239K|ARHGAP9_uc001sob.3_Missense_Mutation_p.R550K|ARHGAP9_uc001soc.3_Missense_Mutation_p.R550K|ARHGAP9_uc001soe.1_Missense_Mutation_p.R629K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	569	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R569I(1)|p.R639R(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAAATGACCTCTTTTATCCAC	0.527													T	57868660	C	T	57868660	3	4	56	1	0	0	0	0	1	0	0	0	889	913	32	3	570	3	ARHGAP9	12	57868660	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	43040972	57868660	75983235	81	3533											
EBPL	84650	broad.mit.edu	37	13	50243922	50243922	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr13:50243922C>A	uc001vdg.3	-	1	295	c.232G>T	c.(232-234)Gct>Tct	p.A78S	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_Missense_Mutation_p.A78S	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	78					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CATAAAGAAGCAATCAAGCCA	0.378											OREG0022412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50243922	C	A	50243922	3	1	56	1	0	0	0	0	1	0	0	0	4887	710	25	5	400	5	EBPL	13	50243922	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		50243922	64925956	82	3534											
TINF2	26277	broad.mit.edu	37	14	24709082	24709082	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:24709082C>T	uc001woa.4	-	8	1619	c.1277G>A	c.(1276-1278)tGt>tAt	p.C426Y	TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_Missense_Mutation_p.C391Y|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	426					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TAGGTATTCACAGAGAGTGGG	0.463									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				T	24709082	C	T	24709082	3	4	56	1	0	0	0	0	1	0	0	0	15920	478	17	3	82	3	TINF2	14	24709082	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		24709082	82640458	83	3535											
ZBTB25	7597	broad.mit.edu	37	14	64953897	64953897	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:64953897C>T	uc001xhf.3	-	2	1235	c.1052G>A	c.(1051-1053)tGt>tAt	p.C351Y	ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Missense_Mutation_p.C351Y	NM_006977	NP_008908	P24278	ZBT25_HUMAN	Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA.	351						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		ACAGATGGTACAGCTCATTTT	0.368													T	64953897	C	T	64953897	3	4	56	1	0	0	0	0	1	0	0	0	17529	478	17	3	259	3	ZBTB25	14	64953897	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	40244815	64953897	42395643	84	3536											
LTBP2	4053	broad.mit.edu	37	14	75017917	75017917	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:75017917C>T	uc001xqa.3	-	6	1923	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	512					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P512P(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGCCAGGGCGGGGGTCTGG	0.701													T	75017917	C	T	75017917	2	4	56	1	0	0	0	0	0	0	0	1	9074	755	27	1		1	LTBP2	14	75017917	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	10064020	75017917	32331623	85	3537											
SERPINA3	12	broad.mit.edu	37	14	95085658	95085658	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:95085658A>T	uc001ydp.3	+	2	929	c.770A>T	c.(769-771)gAg>gTg	p.E257V	SERPINA3_uc001ydo.4_Missense_Mutation_p.E282V|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.E257V|SERPINA3_uc001yds.3_Missense_Mutation_p.E257V	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	257					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.E257K(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCCGGGACGAGGAGCTGTCC	0.502													T	95085658	A	T	95085658	3	4	56	1	0	0	0	0	1	0	0	0	14090	304	11	5	776	5	SERPINA3	14	95085658	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	20067741	95085658	12263882	86	3538											
AHNAK2	113146	broad.mit.edu	37	14	105420083	105420083	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:105420083G>C	uc010axc.1	-	6	1825	c.1705C>G	c.(1705-1707)Cag>Gag	p.Q569E	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.Q469E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	569						nucleus				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)			CCCTTGTCCTGTTCCTCAGTG	0.542													C	105420083	G	C	105420083	3	2	56	1	0	0	0	0	1	0	0	0	415	1386	48	5	15686	5	AHNAK2	14	105420083	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	10334425	105420083	1929457	87	3539											
ATP8B4	79895	broad.mit.edu	37	15	50226374	50226374	+	Missense_Mutation	SNP	T	T	G	rs114705901	by1000genomes	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr15:50226374T>G	uc001zxu.3	-	14	1435	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	ATP8B4_uc010ber.3_Missense_Mutation_p.K304N|ATP8B4_uc010ufd.2_Missense_Mutation_p.K304N|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	431					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCACAGGCTCTTTTTCCTGTA	0.348													G	50226374	T	G	50226374	3	3	56	1	0	0	0	0	1	0	0	0	1197	1606	56	5	2341	5	ATP8B4	15	50226374	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		50226374	52305018	88	3540											
OR4F6	390648	broad.mit.edu	37	15	102346502	102346502	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr15:102346502A>G	uc010utr.2	+	0	580	c.580A>G	c.(580-582)Aca>Gca	p.T194A		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGAGACCTACACATTGGGATT	0.368													G	102346502	A	G	102346502	3	3	56	1	0	0	0	0	1	0	0	0	11066	159	6	4	582	4	OR4F6	15	102346502	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	52120128	102346502	184890	89	3541											
CYLD	1540	broad.mit.edu	37	16	50783900	50783900	+	Silent	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr16:50783900A>G	uc021tib.1	+	0	414	c.291A>G	c.(289-291)acA>acG	p.T97T	CYLD_uc002egn.1_Silent_p.T97T|CYLD_uc002ego.3_Silent_p.T97T|CYLD_uc010cbs.1_Silent_p.T97T|CYLD_uc002egp.1_Silent_p.T97T|CYLD_uc002egq.1_Silent_p.T97T|CYLD_uc002egr.1_Silent_p.T97T|CYLD_uc002egs.1_Silent_p.T97T	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	97					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAAAGTTCACAGAGTTACTTT	0.378			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				G	50783900	A	G	50783900	2	3	56	1	0	0	0	0	0	0	0	1	4143	175	7	4		4	CYLD	16	50783900	Silent	SNP	A	TCGA-06-0649-01B-01W-0348-08		50783900	39570853	90	3542											
CDK12	51755	broad.mit.edu	37	17	37687203	37687203	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:37687203C>T	uc010cvv.3	+	13	4693	c.4107C>T	c.(4105-4107)acC>acT	p.T1369T	CDK12_uc002hrw.4_Silent_p.T1360T	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1369					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGGTCCAGACCCTGGTGAAGA	0.552			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			T	37687203	C	T	37687203	2	4	56	1	0	0	0	0	0	0	0	1	3128	610	22	3		3	CDK12	17	37687203	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08		37687203	43508007	91	3543											
KRT222	125113	broad.mit.edu	37	17	38812778	38812778	+	Nonsense_Mutation	SNP	A	A	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:38812778A>C	uc002hvc.2	-	5	829	c.764T>G	c.(763-765)tTa>tGa	p.L255*	KRT222_uc002hvb.2_Nonsense_Mutation_p.L215*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	255						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGTGGCTGCTAAATGAAGATC	0.378													C	38812778	A	C	38812778	4	2	56	1	0	0	0	0	0	1	0	0	8459	372	13	5	127	5	KRT222	17	38812778	Nonsense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	1125575	38812778	42382432	92	3544											
BRCA1	672	broad.mit.edu	37	17	41244603	41244603	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:41244603G>A	uc002icq.3	-	9	3177	c.2945C>T	c.(2944-2946)cCa>cTa	p.P982L	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P911L|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P935L|BRCA1_uc002ict.3_Missense_Mutation_p.P982L|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P982L|BRCA1_uc002ide.1_Missense_Mutation_p.P813L|BRCA1_uc010cyy.1_Missense_Mutation_p.P982L|BRCA1_uc010whs.1_Missense_Mutation_p.P982L|BRCA1_uc010cyz.2_Missense_Mutation_p.P935L|BRCA1_uc010cza.2_Missense_Mutation_p.P956L|BRCA1_uc010wht.1_Missense_Mutation_p.P686L	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	982					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGAAAAAGTGGTGGTATACG	0.368			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			A	41244603	G	A	41244603	3	1	56	1	0	0	0	0	1	0	0	0	1498	1348	47	3	2772	3	BRCA1	17	41244603	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	2431825	41244603	39950607	93	3545											
DCAF7	10238	broad.mit.edu	37	17	61657190	61657190	+	Silent	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:61657190C>A	uc002jbc.3	+	3	631	c.414C>A	c.(412-414)acC>acA	p.T138T	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	138					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TTGCAGGTACCTCAAGCATTG	0.562													A	61657190	C	A	61657190	2	1	56	1	0	0	0	0	0	0	0	1	4275	668	24	5		5	DCAF7	17	61657190	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	20412587	61657190	19538020	94	3546											
KPNA2	3838	broad.mit.edu	37	17	66033587	66033587	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:66033587G>A	uc002jgk.3	+	2	321	c.189G>A	c.(187-189)ccG>ccA	p.P63P	KPNA2_uc002jgl.3_Silent_p.P63P	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	63					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTACTTCTCCGCTGCAGGAAA	0.398													A	66033587	G	A	66033587	2	1	56	1	0	0	0	0	0	0	0	1	8430	1074	38	1		1	KPNA2	17	66033587	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	4376397	66033587	15161623	95	3547											
MGAT5B	146664	broad.mit.edu	37	17	74900424	74900424	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:74900424G>A	uc002jti.3	+	4	746	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	MGAT5B_uc002jth.3_Missense_Mutation_p.V204I	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	204						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTCAGTGAGGTCGAGTGGTT	0.662													A	74900424	G	A	74900424	3	1	56	1	0	0	0	0	1	0	0	0	9549	1261	44	3	733	3	MGAT5B	17	74900424	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	8866837	74900424	6294786	96	3548											
ENGASE	64772	broad.mit.edu	37	17	77081816	77081816	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:77081816G>A	uc002jwv.3	+	13	1823	c.1815_splice	c.e13+1	p.Q605_splice	ENGASE_uc002jww.3_Splice_Site_p.Q310_splice	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	605						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGAGATCCAGGTGATGCTTC	0.677													A	77081816	G	A	77081816	2	1	56	1	0	0	0	0	0	0	0	1	5118	1014	35	3		3	ENGASE	17	77081816	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	2181392	77081816	4113394	97	3549											
SMCHD1	23347	broad.mit.edu	37	18	2705783	2705783	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:2705783G>T	uc002klm.4	+	13	2123	c.1934G>T	c.(1933-1935)gGa>gTa	p.G645V	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	645					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATGCTACAGGAGGAGAGGTT	0.333													T	2705783	G	T	2705783	3	4	56	1	0	0	0	0	1	0	0	0	14788	1174	41	5	1988	5	SMCHD1	18	2705783	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		2705783	75371465	98	3550											
DSC1	1823	broad.mit.edu	37	18	28710546	28710546	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:28710546C>T	uc002kwn.3	-	15	2878	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	872					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCCAGTCCCTCTTCTTCCT	0.423													T	28710546	C	T	28710546	2	4	56	1	0	0	0	0	0	0	0	1	4765	680	24	3		3	DSC1	18	28710546	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	26004763	28710546	49366702	99	3551											
DOK6	220164	broad.mit.edu	37	18	67345078	67345078	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:67345078G>A	uc002lkl.3	+	3	595	c.398G>A	c.(397-399)cGg>cAg	p.R133Q		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	133	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGAGTGCAGCGGGAACAGAAT	0.517													A	67345078	G	A	67345078	3	1	56	1	0	0	0	0	1	0	0	0	4701	1116	39	2	412	2	DOK6	18	67345078	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	38634532	67345078	10732170	100	3552											
C3	718	broad.mit.edu	37	19	6677935	6677935	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:6677935G>A	uc002mfm.3	-	40	5012	c.4950C>T	c.(4948-4950)ggC>ggT	p.G1650G		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1650	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.G1650C(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGGTGAAGGCGCCGAGGTCCT	0.562													A	6677935	G	A	6677935	2	1	56	1	0	0	0	0	0	0	0	1	2204	1074	38	1		1	C3	19	6677935	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08		6677935	52451048	101	3553											
ZNF358	140467	broad.mit.edu	37	19	7584719	7584719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:7584719delC	uc002mgn.2	+	1	761	c.591delC	c.(589-591)cacfs	p.H197fs	ZNF358_uc021unu.1_Frame_Shift_Del_p.H197fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	197					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TGGCTCAGCACCGTGGCATCC	0.711													-	7584719	C	-	7584719	7	5	56	1	0	1	0	1	0	0	0	0	17864	506	18	0	593	0	ZNF358	19	7584719	Frame_Shift_Del	DEL	C	TCGA-06-0649-01B-01W-0348-08	906784	7584719	51544264	102	3554											
MRI1	84245	broad.mit.edu	37	19	13876915	13876915	+	Silent	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:13876915G>C	uc002mxe.3	+	2	585	c.519G>C	c.(517-519)ctG>ctC	p.L173L	MRI1_uc002mxf.3_Intron	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	173					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTGGTGCTCTGGCCACCGCTG	0.602													C	13876915	G	C	13876915	2	2	56	1	0	0	0	0	0	0	0	1	9770	1335	47	5		5	MRI1	19	13876915	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	6292196	13876915	45252068	103	3555											
ZNF461	92283	broad.mit.edu	37	19	37129609	37129609	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:37129609G>A	uc002oem.3	-	5	1866	c.1638C>T	c.(1636-1638)ggC>ggT	p.G546G	ZNF461_uc002oen.3_Silent_p.G515G|ZNF461_uc010xtj.2_Silent_p.G523G	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGGCTTCTCGCCAGTATGAA	0.388													A	37129609	G	A	37129609	2	1	56	1	0	0	0	0	0	0	0	1	17922	1074	38	1		1	ZNF461	19	37129609	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	23252694	37129609	21999374	104	3556											
CATSPERG	57828	broad.mit.edu	37	19	38861189	38861189	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:38861189C>T	uc002oih.4	+	28	3324	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G	CATSPERG_uc002oig.4_Silent_p.G1039G|CATSPERG_uc002oif.4_Silent_p.G719G|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1079					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGTTTGTGGGCCTGGTGATCT	0.522													T	38861189	C	T	38861189	2	4	56	1	0	0	0	0	0	0	0	1	2692	726	26	3		3	CATSPERG	19	38861189	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	1731580	38861189	20267794	105	3557											
ZNF28	7576	broad.mit.edu	37	19	53303202	53303202	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53303202C>G	uc002qad.3	-	3	2053	c.1896G>C	c.(1894-1896)gaG>gaC	p.E632D	ZNF28_uc002qac.3_Missense_Mutation_p.E578D|ZNF28_uc010eqe.3_Missense_Mutation_p.E578D|ZNF28_uc021uza.1_Missense_Mutation_p.E579D	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTAAGGTTTCTCTCCAGTAT	0.433													G	53303202	C	G	53303202	3	3	56	1	0	0	0	0	1	0	0	0	17810	912	32	5	264	5	ZNF28	19	53303202	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	14442013	53303202	5825781	106	3558			1	7		3	3	1098	C		9.77273e-06
ZNF28	7576	broad.mit.edu	37	19	53304215	53304215	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53304215C>T	uc002qad.3	-	3	1040	c.883G>A	c.(883-885)Gca>Aca	p.A295T	ZNF28_uc002qac.3_Missense_Mutation_p.A241T|ZNF28_uc010eqe.3_Missense_Mutation_p.A241T|ZNF28_uc021uza.1_Missense_Mutation_p.A242T	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTGTCTGCAGTATGAAGC	0.388													T	53304215	C	T	53304215	3	4	56	1	0	0	0	0	1	0	0	0	17810	710	25	3	1277	3	ZNF28	19	53304215	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1013	53304215	5824768	107	3559			1	7		3	3	1098	C		9.77273e-06
ZNF28	7576	broad.mit.edu	37	19	53304299	53304299	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53304299C>G	uc002qad.3	-	3	956	c.799G>C	c.(799-801)Gat>Cat	p.D267H	ZNF28_uc002qac.3_Missense_Mutation_p.D213H|ZNF28_uc010eqe.3_Missense_Mutation_p.D213H|ZNF28_uc021uza.1_Missense_Mutation_p.D214H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTCTCATCAATGTGAGAT	0.398													G	53304299	C	G	53304299	3	3	56	1	0	0	0	0	1	0	0	0	17810	826	29	5	1361	5	ZNF28	19	53304299	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	84	53304299	5824684	108	3560			1	7		3	3	1098	C		9.77273e-06
LILRB3	11025	broad.mit.edu	37	19	54746595	54746595	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:54746595C>T	uc010erh.1	-	0	130	c.6G>A	c.(4-6)acG>acA	p.T2T	LILRB3_uc002qew.2_Intron|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.T2T|LILRB3_uc002qeh.1_Silent_p.T2T|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.T2T|LILRB3_uc002qek.1_Silent_p.T2T|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Silent_p.T2T|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Silent_p.T2T|LILRB3_uc002qep.1_Silent_p.T2T|LILRB3_uc002qeq.1_Silent_p.T2T|LILRB3_uc010yep.1_Silent_p.T2T|LILRB3_uc010yeq.1_Silent_p.T2T|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Silent_p.T2T|LILRB3_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	2					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			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)		TGAGGGCGGGCGTCATGGCGT	0.647													T	54746595	C	T	54746595	2	4	56	1	0	0	0	0	0	0	0	1	8792	755	27	1		1	LILRB3	19	54746595	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	1442296	54746595	4382388	109	3561											
NLRP7	199713	broad.mit.edu	37	19	55449588	55449588	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:55449588C>T	uc002qih.4	-	4	2029	c.1953G>A	c.(1951-1953)ccG>ccA	p.P651P	NLRP7_uc010esk.3_Silent_p.P651P|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Silent_p.P651P|NLRP7_uc010esl.3_Silent_p.P679P	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	651			P -> S (in HYDM).				ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGCCCAGTTCGGAATGGTTA	0.488													T	55449588	C	T	55449588	2	4	56	1	0	0	0	0	0	0	0	1	10482	871	31	2		2	NLRP7	19	55449588	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	702993	55449588	3679395	110	3562											
PEG3	5178	broad.mit.edu	37	19	57335864	57335864	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:57335864A>T	uc002qnu.2	-	0	511	c.160T>A	c.(160-162)Tat>Aat	p.Y54N	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Y54N|PEG3_uc002qnv.2_Missense_Mutation_p.Y54N|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.Y54N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	54	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		AATTCCACATAGATTAGGTTC	0.498													T	57335864	A	T	57335864	3	4	56	1	0	0	0	0	1	0	0	0	11720	420	15	5		5	PEG3	19	57335864	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	1886276	57335864	1793119	111	3563											
UMODL1	89766	broad.mit.edu	37	21	43519135	43519135	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr21:43519135T>G	uc002zag.1	+	6	1031	c.1031T>G	c.(1030-1032)gTc>gGc	p.V344G	UMODL1_uc002zad.1_Missense_Mutation_p.V272G|UMODL1_uc002zae.1_Missense_Mutation_p.V272G|UMODL1_uc002zaf.1_Missense_Mutation_p.V344G|UMODL1_uc010gow.1_Missense_Mutation_p.V136G|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.V89G	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	344	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTTTCCATGTCCGGGTTTAC	0.547													G	43519135	T	G	43519135	3	3	56	1	0	0	0	0	1	0	0	0	16977	1667	58	5	1057	5	UMODL1	21	43519135	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		43519135	4610760	112	3564											
DGCR2	9993	broad.mit.edu	37	22	19044577	19044577	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr22:19044577G>C	uc002zoq.1	-	5	972	c.724C>G	c.(724-726)Ccc>Gcc	p.P242A	DGCR2_uc021wkx.1_Missense_Mutation_p.P239A|DGCR2_uc021wky.1_Missense_Mutation_p.P201A|DGCR2_uc021wkz.1_Missense_Mutation_p.P18A|DGCR2_uc011agr.1_Missense_Mutation_p.P198A|DGCR2_uc002zor.1_Missense_Mutation_p.P18A	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	242					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCAGGGTGGGGAAATGGAAG	0.572													C	19044577	G	C	19044577	3	2	56	1	0	0	0	0	1	0	0	0	4461	1232	43	5	948	5	DGCR2	22	19044577	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		19044577	32259989	113	3565											
CACNA1I	8911	broad.mit.edu	37	22	39966921	39966921	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr22:39966921C>T	uc003ayc.3	+	0	164	c.164C>T	c.(163-165)gCg>gTg	p.A55V	CACNA1I_uc003ayd.3_Missense_Mutation_p.A55V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	55					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)	CCAGACCTGGCGCCTATTGCC	0.657													T	39966921	C	T	39966921	3	4	56	1	0	0	0	0	1	0	0	0	2546	768	27	1	166	1	CACNA1I	22	39966921	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	20922344	39966921	11337645	114	3566											
DDX53	168400	broad.mit.edu	37	X	23019452	23019452	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:23019452G>T	uc004daj.3	+	0	1375	c.1278G>T	c.(1276-1278)atG>atT	p.M426I		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	426	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGATCCTATGATTGTTTATG	0.373													T	23019452	G	T	23019452	3	4	56	1	0	0	0	0	1	0	0	0	4371	1290	45	5	1280	5	DDX53	23	23019452	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		23019452	132251108	115	3567											
PIM2	11040	broad.mit.edu	37	X	48775821	48775821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:48775821G>A	uc004dls.3	-	1	465	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	55	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						ACCTGGAGTCGATCTGTGAGG	0.652													A	48775821	G	A	48775821	4	1	56	1	0	0	0	0	0	1	0	0	11928	1066	37	2	792	2	PIM2	23	48775821	Nonsense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	25756369	48775821	106494739	116	3568											
CSTF2	1478	broad.mit.edu	37	X	100075410	100075410	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:100075410C>T	uc004egh.3	+	0	63	c.5C>T	c.(4-6)gCg>gTg	p.A2V	CSTF2_uc010nnd.3_Missense_Mutation_p.A2V|CSTF2_uc004egi.3_Missense_Mutation_p.A2V	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	2					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGAGCTATGGCGGGTTTGACT	0.597													T	100075410	C	T	100075410	3	4	56	1	0	0	0	0	1	0	0	0	3984	768	27	1	7	1	CSTF2	23	100075410	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	51299589	100075410	55195150	117	3569											
BCORL1	63035	broad.mit.edu	37	X	129155121	129155121	+	Silent	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:129155121G>A	uc022cdu.1	+	3	3647	c.3603G>A	c.(3601-3603)gaG>gaA	p.E1201E	BCORL1_uc010nrd.1_Silent_p.E1103E	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1201					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				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						ACAGCCACGAGGAAGGTAGGC	0.637													A	129155121	G	A	129155121	2	1	56	1	0	0	0	0	0	0	0	1	1387	991	35	3		3	BCORL1	23	129155121	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	29079711	129155121	26115439	118	3570											
SLC25A14	9016	broad.mit.edu	37	X	129506901	129506901	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:129506901C>A	uc004evr.1	+	10	1211	c.1039C>A	c.(1039-1041)Cag>Aag	p.Q347K	SLC25A14_uc004evp.1_Missense_Mutation_p.Q319K|SLC25A14_uc004evq.1_Missense_Mutation_p.Q316K	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	319					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TACATACGAGCAGCTAAAGAG	0.398													A	129506901	C	A	129506901	3	1	56	1	0	0	0	0	1	0	0	0	14476	711	25	5	993	5	SLC25A14	23	129506901	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	351780	129506901	25763659	119	3571											
FRMD7	90167	broad.mit.edu	37	X	131214270	131214270	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:131214270C>A	uc004ewn.3	-	9	1108	c.930G>T	c.(928-930)ttG>ttT	p.L310F	FRMD7_uc022cdy.1_Missense_Mutation_p.L190F|FRMD7_uc011muy.2_Missense_Mutation_p.L295F	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	310					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCCATATTCCAAAAGTTGCC	0.373													A	131214270	C	A	131214270	3	1	56	1	0	0	0	0	1	0	0	0	6055	593	21	5	1226	5	FRMD7	23	131214270	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1707369	131214270	24056290	120	3572											
SPANXN3	139067	broad.mit.edu	37	X	142596854	142596854	+	Silent	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142596854C>T	uc004fbw.3	-	1	304	c.216G>A	c.(214-216)caG>caA	p.Q72Q		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	72										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCTTGGGACTGTTCATTCT	0.388													T	142596854	C	T	142596854	2	4	56	1	0	0	0	0	0	0	0	1	14992	564	20	3		3	SPANXN3	23	142596854	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	11382584	142596854	12673706	121	3573											
UBE2NL	389898	broad.mit.edu	37	X	142967366	142967366	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142967366G>A	uc004fca.3	+	0	194	c.164G>A	c.(163-165)cGt>cAt	p.R55H		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	55							acid-amino acid ligase activity	p.R55H(2)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTTAAACGTGAACTATTA	0.418													A	142967366	G	A	142967366	3	1	56	1	0	0	0	0	1	0	0	0	16864	1145	40	1	166	1	UBE2NL	23	142967366	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	370512	142967366	12303194	122	3574											
UBE2NL	389898	broad.mit.edu	37	X	142967428	142967428	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142967428A>G	uc004fca.3	+	0	256	c.226A>G	c.(226-228)Att>Gtt	p.I76V		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	76							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CATGACCAAAATTTATCATCC	0.408													G	142967428	A	G	142967428	3	3	56	1	0	0	0	0	1	0	0	0	16864	101	4	4	228	4	UBE2NL	23	142967428	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	62	142967428	12303132	123	3575											
IRAK1	3654	broad.mit.edu	37	X	153278845	153278845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:153278845C>T	uc004fjs.1	-	11	1658	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R	IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.G448R	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	527					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGCACCCCCGCCACCACT	0.667													T	153278845	C	T	153278845	3	4	56	1	0	0	0	0	1	0	0	0	7821	623	22	3	571	3	IRAK1	23	153278845	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	10311417	153278845	1991715	124	3576											
F8	2157	broad.mit.edu	37	X	154225292	154225292	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:154225292A>T	uc004fmt.3	-	2	515	c.344T>A	c.(343-345)gTc>gAc	p.V115D	F8_uc011mzx.1_Missense_Mutation_p.V80D	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	115	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATGAAGACTGACAGGATGGGA	0.448													T	154225292	A	T	154225292	3	4	56	1	0	0	0	0	1	0	0	0	5350	275	10	5	6835	5	F8	23	154225292	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	946447	154225292	1045268	125	3577											
CPSF3L	54973	broad.mit.edu	37	1	1249704	1249704	+	Silent	SNP	G	G	C			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr1:1249704G>C	uc001aef.1	-	9	1275	c.762C>G	c.(760-762)ctC>ctG	p.L254L	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Silent_p.L248L|CPSF3L_uc009vjz.1_Silent_p.L226L|CPSF3L_uc010nyj.1_Silent_p.L219L|CPSF3L_uc001aeg.1_Silent_p.L124L|CPSF3L_uc001aeh.1_Silent_p.L147L|CPSF3L_uc001aei.1_Silent_p.L150L|CPSF3L_uc001aek.1_5'UTR			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	248						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GGAGGATGCAGAGCTCCTGGG	0.667													C	1249704	G	C	1249704	2	2	57	1	0	0	0	0	0	0	0	1	3827	929	33	5		5	CPSF3L	1	1249704	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08		1249704	248000917	1	3578											
THEM5	284486	broad.mit.edu	37	1	151820732	151820732	+	Silent	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr1:151820732G>A	uc021oyw.1	-	3	633	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	167							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGTCTCGTCCATCATGG	0.587													A	151820732	G	A	151820732	2	1	57	1	0	0	0	0	0	0	0	1	15856	1136	40	1		1	THEM5	1	151820732	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	150571028	151820732	97429889	2	3579											
HNRPLL	92906	broad.mit.edu	37	2	38812883	38812883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr2:38812883delC	uc021vgc.1	-	2	859	c.449delG	c.(448-450)agcfs	p.S150fs	HNRPLL_uc021vgb.1_Frame_Shift_Del_p.S145fs	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L-like (HNRPLL), transcript variant 1, mRNA.	150	RRM 1.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(2)	10		all_hematologic(82;0.248)				GATCCTTTTGCTTGTAGAATA	0.408													-	38812883	C	-	38812883	7	5	57	1	0	1	0	1	0	0	0	0	7277	797	28	0	1223	0	HNRPLL	2	38812883	Frame_Shift_Del	DEL	C	TCGA-06-0650-01A-02D-1696-08		38812883	204386490	3	3580											
C2orf89	129293	broad.mit.edu	37	2	85051124	85051124	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr2:85051124C>A	uc010ysl.2	-	5	1376	c.1287G>T	c.(1285-1287)agG>agT	p.R429S	C2orf89_uc002sou.4_Missense_Mutation_p.R380S	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	429						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						GGAGTCGCGGCCTCCGCTGTG	0.652													A	85051124	C	A	85051124	3	1	57	1	0	0	0	0	1	0	0	0	2203	738	26	5	238	5	C2orf89	2	85051124	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	46238241	85051124	158148249	4	3581											
CASR	846	broad.mit.edu	37	3	121976021	121976021	+	Silent	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr3:121976021G>A	uc003eew.4	+	2	717	c.279G>A	c.(277-279)ctG>ctA	p.L93L	CASR_uc003eev.4_Silent_p.L93L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	93					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.T92M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACTTGACGCTGGGATACAGGA	0.448													A	121976021	G	A	121976021	2	1	57	1	0	0	0	0	0	0	0	1	2682	1335	47	3		3	CASR	3	121976021	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08		121976021	76046409	5	3582											
RBM47	54502	broad.mit.edu	37	4	40440364	40440364	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:40440364C>T	uc003gvc.2	-	3	1257	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	RBM47_uc003gvd.2_Missense_Mutation_p.V183I|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.V145I|RBM47_uc003gvg.1_Missense_Mutation_p.V183I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	183	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTGGCGTAGACGATCACGTCC	0.637													T	40440364	C	T	40440364	3	4	57	1	0	0	0	0	1	0	0	0	13141	536	19	1	1250	1	RBM47	4	40440364	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		40440364	150713912	6	3583											
CSN1S1	1446	broad.mit.edu	37	4	70810660	70810660	+	Silent	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:70810660C>T	uc003hep.1	+	14	544	c.495C>T	c.(493-495)tcC>tcT	p.S165S	CSN1S1_uc003heq.1_Silent_p.S156S|CSN1S1_uc003her.1_Silent_p.S157S	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	165						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CACCGTTTTCCGACATCTCCA	0.423													T	70810660	C	T	70810660	2	4	57	1	0	0	0	0	0	0	0	1	3947	639	23	2		2	CSN1S1	4	70810660	Silent	SNP	C	TCGA-06-0650-01A-02D-1696-08	30370296	70810660	120343616	7	3584											
FRAS1	80144	broad.mit.edu	37	4	79396642	79396642	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:79396642C>T	uc003hlb.2	+	53	8173	c.7733C>T	c.(7732-7734)aCt>aTt	p.T2578I		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2577	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R2578K(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						GTGCAGAGGACTGGGAACCTG	0.542													T	79396642	C	T	79396642	3	4	57	1	0	0	0	0	1	0	0	0	6042	565	20	3	8022	3	FRAS1	4	79396642	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	8585982	79396642	111757634	8	3585											
ABLIM3	22885	broad.mit.edu	37	5	148637907	148637907	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr5:148637907G>C	uc003lpy.2	+	23	2243	c.1992G>C	c.(1990-1992)gaG>gaC	p.E664D	ABLIM3_uc003lpz.1_Missense_Mutation_p.E664D|ABLIM3_uc003lqa.1_Missense_Mutation_p.E561D|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.E631D|ABLIM3_uc003lqd.1_Missense_Mutation_p.E569D|ABLIM3_uc003lqe.1_Missense_Mutation_p.E553D|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	664	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTCTGAGTTTGACCGGC	0.517													C	148637907	G	C	148637907	3	2	57	1	0	0	0	0	1	0	0	0	96	1020	36	5	2082	5	ABLIM3	5	148637907	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		148637907	32277353	9	3586											
LY6G6F	259215	broad.mit.edu	37	6	31675363	31675363	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:31675363C>A	uc003nwb.1	+	1	181	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.L61M	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	61	Ig-like V-type.					integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CTTCACCACCCTGGTAGCCCA	0.592													A	31675363	C	A	31675363	3	1	57	1	0	0	0	0	1	0	0	0	9096	680	24	5	187	5	LY6G6F	6	31675363	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		31675363	139439704	10	3587											
TBX18	9096	broad.mit.edu	37	6	85446758	85446758	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:85446758G>A	uc003pkl.1	-	7	1469	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	490					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S490S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGACATTCCCGAAATCTGCAT	0.527													A	85446758	G	A	85446758	3	1	57	1	0	0	0	0	1	0	0	0	15650	1059	37	2	358	2	TBX18	6	85446758	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	53771395	85446758	85668309	11	3588											
ASCC3	10973	broad.mit.edu	37	6	101037629	101037629	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:101037629C>T	uc003pqk.3	-	35	5760	c.5431G>A	c.(5431-5433)Gaa>Aaa	p.E1811K		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTAGAGGTTCAATGCTGCGA	0.343													T	101037629	C	T	101037629	3	4	57	1	0	0	0	0	1	0	0	0	1033	835	29	3	1205	3	ASCC3	6	101037629	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	15590871	101037629	70077438	12	3589											
PNLDC1	154197	broad.mit.edu	37	6	160240368	160240368	+	Missense_Mutation	SNP	G	G	A	rs138386704		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:160240368G>A	uc003qsy.1	+	17	1555	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I	PNLDC1_uc003qsx.1_Missense_Mutation_p.V495I	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	495						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCCCCAAACGTCAACTGCCT	0.617													A	160240368	G	A	160240368	3	1	57	1	0	0	0	0	1	0	0	0	12148	1145	40	1	1549	1	PNLDC1	6	160240368	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	59202739	160240368	10874699	13	3590											
QKI	9444	broad.mit.edu	37	6	163956153	163956153	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:163956153C>G	uc003qui.3	+	3	1093	c.542C>G	c.(541-543)cCt>cGt	p.P181R	QKI_uc003quj.3_Missense_Mutation_p.P181R|QKI_uc003quh.3_Missense_Mutation_p.P181R|QKI_uc003que.3_Missense_Mutation_p.P181R|QKI_uc003quf.3_Missense_Mutation_p.P181R|QKI_uc003qug.3_Missense_Mutation_p.P181R	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	181					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TTATTGGTACCTGCAGTAAGT	0.333													G	163956153	C	G	163956153	3	3	57	1	0	0	0	0	1	0	0	0	12873	681	24	5	556	5	QKI	6	163956153	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	3715785	163956153	7158914	14	3591											
EGFR	1956	broad.mit.edu	37	7	55223531	55223533	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55223531_55223533delGTG	uc003tqk.3	+	7	1144_1146	c.898_900delGTG	c.(898-900)gtgdel	p.V301del	EGFR_uc003tqh.3_In_Frame_Del_p.V301del|EGFR_uc003tqi.3_In_Frame_Del_p.V301del|EGFR_uc003tqj.3_In_Frame_Del_p.V301del|EGFR_uc022adm.1_In_Frame_Del_p.V301del|EGFR_uc010kzg.2_In_Frame_Del_p.V256del|EGFR_uc022adn.1_In_Frame_Del_p.V256del|EGFR_uc011kco.2_In_Frame_Del_p.V248del|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	301					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V301V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGGTAATTATGTGGTGACAGATC	0.601		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			-	55223533	GTG	-	55223531	7	5	57	1	0	1	0	1	0	0	0	0	4967	1377	48	0	928	0	EGFR	7	55223531	In_Frame_Del	DEL	GTG	TCGA-06-0650-01A-02D-1696-08		55223531	103915132	15	3592											
EGFR	1956	broad.mit.edu	37	7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55241677G>A	uc003tqk.3	+	17	2371	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_uc022adm.1_Missense_Mutation_p.E709K|EGFR_uc010kzg.2_Missense_Mutation_p.E664K|EGFR_uc022adn.1_Missense_Mutation_p.E664K|EGFR_uc011kco.2_Missense_Mutation_p.E656K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709K(39)|p.E709A(18)|p.E709G(10)|p.E709_T710>D(6)|p.E709V(5)|p.E709H(4)|p.E709Q(2)|p.E709fs*1(2)|p.K708E(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.K708M(1)|p.K708R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATCTTGAAGGAAACTGAATT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55241677	G	A	55241677	3	1	57	1	0	0	0	0	1	0	0	0	4967	1175	41	3	2459	3	EGFR	7	55241677	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	18146	55241677	103896986	16	3593			1	8		2	2	32	G		4.205779e-05
EGFR	1956	broad.mit.edu	37	7	55241708	55241708	+	Missense_Mutation	SNP	G	G	A	rs121913428		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55241708G>A	uc003tqk.3	+	17	2402	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	EGFR_uc022adm.1_Missense_Mutation_p.G719D|EGFR_uc010kzg.2_Missense_Mutation_p.G674D|EGFR_uc022adn.1_Missense_Mutation_p.G674D|EGFR_uc011kco.2_Missense_Mutation_p.G666D	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	719	Protein kinase.		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G719A(102)|p.G719S(74)|p.G719C(41)|p.G719?(25)|p.G719D(12)|p.L718P(3)|p.G719fs*29(2)|p.L718L(1)|p.G719V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAGTGCTGGGCTCCGGTGCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55241708	G	A	55241708	3	1	57	1	0	0	0	0	1	0	0	0	4967	1203	42	3	2490	3	EGFR	7	55241708	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	31	55241708	103896955	17	3594			1	8		2	2	32	G		4.205779e-05
MUC17	140453	broad.mit.edu	37	7	100678917	100678917	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:100678917C>T	uc003uxp.1	+	2	4273	c.4220C>T	c.(4219-4221)cCg>cTg	p.P1407L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1407	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					AGCACCACGCCGGTAGTCAGT	0.512													T	100678917	C	T	100678917	3	4	57	1	0	0	0	0	1	0	0	0	9974	652	23	2	4230	2	MUC17	7	100678917	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	45437209	100678917	58459746	18	3595											
KCND2	3751	broad.mit.edu	37	7	120386073	120386073	+	Silent	SNP	G	G	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:120386073G>T	uc003vjj.1	+	4	2672	c.1707G>T	c.(1705-1707)ctG>ctT	p.L569L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	569					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GAACACCTCTGTCTAACAGGT	0.443													T	120386073	G	T	120386073	2	4	57	1	0	0	0	0	0	0	0	1	8019	1364	48	5		5	KCND2	7	120386073	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	19707156	120386073	38752590	19	3596											
KCNB2	9312	broad.mit.edu	37	8	73848725	73848725	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr8:73848725A>G	uc003xzb.3	+	2	1723	c.1135A>G	c.(1135-1137)Atg>Gtg	p.M379V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	379					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CACCATCACCATGACCACTGT	0.448													G	73848725	A	G	73848725	3	3	57	1	0	0	0	0	1	0	0	0	8013	217	8	4	1141	4	KCNB2	8	73848725	Missense_Mutation	SNP	A	TCGA-06-0650-01A-02D-1696-08		73848725	72515297	20	3597											
PTPRD	5789	broad.mit.edu	37	9	8485910	8485910	+	Silent	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr9:8485910C>T	uc003zkk.3	-	27	3650	c.2907G>A	c.(2905-2907)gaG>gaA	p.E969E	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	969	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		CAATAAGCTGCTCCATCGGGA	0.468										TSP Lung(15;0.13)			T	8485910	C	T	8485910	2	4	57	1	0	0	0	0	0	0	0	1	12799	796	28	3		3	PTPRD	9	8485910	Silent	SNP	C	TCGA-06-0650-01A-02D-1696-08		8485910	132727521	21	3598											
MUC2	4583	broad.mit.edu	37	11	1096432	1096432	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:1096432G>A	uc001lsx.1	+	35	6472	c.6445G>A	c.(6445-6447)Gtg>Atg	p.V2149M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4515						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGCCCCTCCGTGGACAACTT	0.607													A	1096432	G	A	1096432	3	1	57	1	0	0	0	0	1	0	0	0	9975	1145	40	1	6583	1	MUC2	11	1096432	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		1096432	133910084	22	3599											
PTPRJ	5795	broad.mit.edu	37	11	48145364	48145364	+	Silent	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:48145364G>A	uc001ngp.4	+	4	1171	c.816G>A	c.(814-816)ccG>ccA	p.P272P	PTPRJ_uc001ngo.4_Silent_p.P272P	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	272	Fibronectin type-III 2.|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATCAACCCGTATCTTCTAC	0.473													A	48145364	G	A	48145364	2	1	57	1	0	0	0	0	0	0	0	1	12804	1132	40	1		1	PTPRJ	11	48145364	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	47048932	48145364	86861152	23	3600											
SPDYC	387778	broad.mit.edu	37	11	64939756	64939756	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:64939756C>A	uc010rnz.2	+	3	298	c.298C>A	c.(298-300)Cac>Aac	p.H100N		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	100	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding	p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCAGCGCGCCCACCTGAAGCT	0.597													A	64939756	C	A	64939756	3	1	57	1	0	0	0	0	1	0	0	0	15027	594	21	5	312	5	SPDYC	11	64939756	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	16794392	64939756	70066760	24	3601											
INTS4	92105	broad.mit.edu	37	11	77632412	77632412	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:77632412G>C	uc001oys.3	-	13	1766	c.1738C>G	c.(1738-1740)Ctt>Gtt	p.L580V	INTS4_uc001oyt.3_Non-coding_Transcript	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	580					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGATGAGAAAGACTGTCTCGG	0.403													C	77632412	G	C	77632412	3	2	57	1	0	0	0	0	1	0	0	0	7780	942	33	5	1193	5	INTS4	11	77632412	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	12692656	77632412	57374104	25	3602											
PARP4	143	broad.mit.edu	37	13	25009059	25009059	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr13:25009059C>T	uc001upl.3	-	30	4326	c.4220G>A	c.(4219-4221)aGc>aAc	p.S1407N		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1407					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTGTGCAGAGCTTAATGAGCT	0.542													T	25009059	C	T	25009059	3	4	57	1	0	0	0	0	1	0	0	0	11463	797	28	3	970	3	PARP4	13	25009059	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		25009059	90160819	26	3603											
GABRB3	2562	broad.mit.edu	37	15	26792999	26792999	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr15:26792999C>T	uc001zbb.3	-	9	1634	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	GABRB3_uc021sgg.1_Missense_Mutation_p.V384M|GABRB3_uc021sgh.1_Missense_Mutation_p.V370M|GABRB3_uc001zaz.3_Missense_Mutation_p.V455M|GABRB3_uc001zba.3_Missense_Mutation_p.V455M	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	455					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.V455L(2)|p.V511L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGGAAACACGATCCTGGAC	0.398													T	26792999	C	T	26792999	3	4	57	1	0	0	0	0	1	0	0	0	6168	536	19	1	62	1	GABRB3	15	26792999	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		26792999	75738393	27	3604											
UNC13C	440279	broad.mit.edu	37	15	54305644	54305644	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr15:54305644C>T	uc021smr.1	+	0	544	c.544C>T	c.(544-546)Cga>Tga	p.R182*	UNC13C_uc021sms.1_Nonsense_Mutation_p.R182*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	182					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGCTTTACGAAAACTGAG	0.458													T	54305644	C	T	54305644	4	4	57	1	0	0	0	0	0	1	0	0	16983	528	19	1	546	1	UNC13C	15	54305644	Nonsense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	27512645	54305644	48225748	28	3605											
IRF8	3394	broad.mit.edu	37	16	85952286	85952286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr16:85952286G>A	uc002fjh.3	+	6	922	c.865G>A	c.(865-867)Gtc>Atc	p.V289I		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	289					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGGCGTGTTCGTCAAGCGGCT	0.677													A	85952286	G	A	85952286	3	1	57	1	0	0	0	0	1	0	0	0	7836	1145	40	1	887	1	IRF8	16	85952286	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		85952286	4402467	29	3606											
MYH2	4620	broad.mit.edu	37	17	10429979	10429979	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr17:10429979G>C	uc010coi.3	-	29	4252	c.4124C>G	c.(4123-4125)gCc>gGc	p.A1375G	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1375G|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1375					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						CCTCCATTGGGCAACCTCGGT	0.567													C	10429979	G	C	10429979	3	2	57	1	0	0	0	0	1	0	0	0	10035	1203	42	5	1745	5	MYH2	17	10429979	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		10429979	70765231	30	3607											
NPTX1	4884	broad.mit.edu	37	17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr17:78447110C>T	uc002jyp.1	-	2	945	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	263	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587													T	78447110	C	T	78447110	3	4	57	1	0	0	0	0	1	0	0	0	10602	768	27	1	523	1	NPTX1	17	78447110	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	68017131	78447110	2748100	31	3608											
APC2	10297	broad.mit.edu	37	19	1465389	1465389	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:1465389C>T	uc002lsr.1	+	14	2297	c.2089C>T	c.(2089-2091)Cat>Tat	p.H697Y	APC2_uc002lss.1_Missense_Mutation_p.H279Y|APC2_uc002lst.1_Missense_Mutation_p.H697Y|APC2_uc002lsu.1_Missense_Mutation_p.H696Y|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	697					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CCTGCTGGCCCATCGGCCCGC	0.716													T	1465389	C	T	1465389	3	4	57	1	0	0	0	0	1	0	0	0	764	594	21	3	2143	3	APC2	19	1465389	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		1465389	57663594	32	3609											
PLIN4	729359	broad.mit.edu	37	19	4512541	4512541	+	Silent	SNP	C	C	T	rs139885054	by1000genomes	TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:4512541C>T	uc002mar.1	-	2	1389	c.1389G>A	c.(1387-1389)gcG>gcA	p.A463A	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	463	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCACATTCGCAGCACCGG	0.577													T	4512541	C	T	4512541	2	4	57	1	0	0	0	0	0	0	0	1	12092	871	31	2		2	PLIN4	19	4512541	Silent	SNP	C	TCGA-06-0650-01A-02D-1696-08	3047152	4512541	54616442	33	3610											
CD209	30835	broad.mit.edu	37	19	7810925	7810925	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:7810925G>A	uc002mht.2	-	3	294	c.227C>T	c.(226-228)gCg>gTg	p.A76V	CD209_uc010xju.1_Missense_Mutation_p.A76V|CD209_uc010dvp.2_Missense_Mutation_p.A52V|CD209_uc002mhr.2_Missense_Mutation_p.A52V|CD209_uc002mhs.2_Missense_Mutation_p.A52V|CD209_uc002mhu.2_Missense_Mutation_p.A76V|CD209_uc010dvq.2_Missense_Mutation_p.A76V|CD209_uc002mhq.2_Missense_Mutation_p.A76V|CD209_uc002mhv.2_Missense_Mutation_p.A52V|CD209_uc002mhx.2_Missense_Mutation_p.A32V|CD209_uc002mhw.2_Missense_Mutation_p.A32V|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	76					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGGTAGATCGCGTCTTGCCT	0.507													A	7810925	G	A	7810925	3	1	57	1	0	0	0	0	1	0	0	0	2984	1087	38	1	1003	1	CD209	19	7810925	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	3298384	7810925	51318058	34	3611											
FCGBP	8857	broad.mit.edu	37	19	40432968	40432968	+	Missense_Mutation	SNP	C	C	T	rs142198641	byFrequency	TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:40432968C>T	uc002omp.4	-	1	1309	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	434	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTACTTACTCCGGCCGCAATC	0.587													T	40432968	C	T	40432968	3	4	57	1	0	0	0	0	1	0	0	0	5778	652	23	2	15056	2	FCGBP	19	40432968	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	32622043	40432968	18696015	35	3612											
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:56539808C>T	uc002qmj.3	+	6	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	737						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498													T	56539808	C	T	56539808	3	4	57	1	0	0	0	0	1	0	0	0	10480	875	31	2	2235	2	NLRP5	19	56539808	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	16106840	56539808	2589175	36	3613											
TSHZ2	128553	broad.mit.edu	37	20	51870755	51870755	+	Missense_Mutation	SNP	C	C	T	rs141985599		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr20:51870755C>T	uc002xwo.3	+	1	1645	c.758C>T	c.(757-759)aCg>aTg	p.T253M	TSHZ2_uc021wex.1_Missense_Mutation_p.T250M	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	253					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			CTCAGACCCACGAGCTATTCA	0.488													T	51870755	C	T	51870755	3	4	57	1	0	0	0	0	1	0	0	0	16621	536	19	1	764	1	TSHZ2	20	51870755	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		51870755	11154765	37	3614											
GPR143	4935	broad.mit.edu	37	X	9711677	9711677	+	Missense_Mutation	SNP	G	G	A	rs137852297		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:9711677G>A	uc004cst.2	-	5	843	c.695C>T	c.(694-696)aCg>aTg	p.T232M		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	232	Necessary for its G protein-activation ability and normal distribution of melanosomes.		T -> K (in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non- melanocytic cells).		calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CTCGTTCTCCGTGTAAATGCC	0.383													A	9711677	G	A	9711677	3	1	57	1	0	0	0	0	1	0	0	0	6651	1145	40	1	535	1	GPR143	23	9711677	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		9711677	145558883	38	3615											
WDR13	64743	broad.mit.edu	37	X	48463240	48463240	+	Silent	SNP	G	G	A	rs144018865		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:48463240G>A	uc004dkj.2	+	8	1783	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	WDR13_uc004dkk.2_Silent_p.T334T|WDR13_uc004dkl.4_Silent_p.T334T	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	426						cytoplasm|nucleus		p.V425A(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CGACAGTGACGGGCAGTGAGG	0.622													A	48463240	G	A	48463240	2	1	57	1	0	0	0	0	0	0	0	1	17272	1103	39	2		2	WDR13	23	48463240	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	38751563	48463240	106807320	39	3616											
GRIPAP1	56850	broad.mit.edu	37	X	48847434	48847434	+	Silent	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:48847434G>A	uc004dly.1	-	6	581	c.546C>T	c.(544-546)acC>acT	p.T182T	GRIPAP1_uc004dlz.3_Silent_p.T72T|GRIPAP1_uc004dma.3_Silent_p.T129T	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	182						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGGCCAGGACGGTGGGGGCCG	0.607													A	48847434	G	A	48847434	2	1	57	1	0	0	0	0	0	0	0	1	6789	1103	39	2		2	GRIPAP1	23	48847434	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	384194	48847434	106423126	40	3617											
FMR1NB	158521	broad.mit.edu	37	X	147063166	147063166	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:147063166G>A	uc004fcm.3	+	0	318	c.244G>A	c.(244-246)Gtg>Atg	p.V82M		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	82						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTGTTCGTGTGCTACTA	0.612													A	147063166	G	A	147063166	3	1	57	1	0	0	0	0	1	0	0	0	5961	1145	40	1	246	1	FMR1NB	23	147063166	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	98215732	147063166	8207394	41	3618											
SRPK3	26576	broad.mit.edu	37	X	153049494	153049494	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:153049494G>A	uc004fik.3	+	15	3596	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	SRPK3_uc004fim.3_Intron|SRPK3_uc004fil.3_Missense_Mutation_p.A325T|SRPK3_uc004fin.3_Missense_Mutation_p.A324T|SRPK3_uc010nul.3_Intron	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	325	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					CCCCGGGGGCGCCAGAGCAGG	0.697													A	153049494	G	A	153049494	3	1	57	1	0	0	0	0	1	0	0	0	15160	1087	38	1	1011	1	SRPK3	23	153049494	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	5986328	153049494	2221066	42	3619											
KIAA1751	85452	broad.mit.edu	37	1	1896365	1896365	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:1896365G>A	uc001aim.1	-	12	1693	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	KIAA1751_uc009vkz.1_Missense_Mutation_p.R513C	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	513										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TTGAAGGGGCGTCCTTGGAAC	0.662													A	1896365	G	A	1896365	3	1	58	1	0	0	0	0	1	0	0	0	8256	1145	40	1	775	1	KIAA1751	1	1896365	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		1896365	247354256	1	3620											
RBMXL1	494115	broad.mit.edu	37	1	89448410	89448410	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:89448410C>T	uc021opo.1	-	0	1100	c.1100G>A	c.(1099-1101)aGc>aAc	p.S367N	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.S367N|RBMXL1_uc001dms.3_Missense_Mutation_p.S367N	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	367	Ser-rich.						nucleotide binding|RNA binding										TGCTCCGCGGCTTGAACTGCT	0.517													T	89448410	C	T	89448410	3	4	58	1	0	0	0	0	1	0	0	0	13153	797	28	3	76	3	RBMXL1	1	89448410	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	87552045	89448410	159802211	2	3621											
GFI1	2672	broad.mit.edu	37	1	92946526	92946526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:92946526G>A	uc001dou.4	-	3	582	c.418C>T	c.(418-420)Cga>Tga	p.R140*	GFI1_uc001dov.4_Nonsense_Mutation_p.R140*|GFI1_uc001dow.4_Nonsense_Mutation_p.R140*	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	140					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCACACGGTCGGTAGCTCTGC	0.716													A	92946526	G	A	92946526	4	1	58	1	0	0	0	0	0	1	0	0	6339	1124	39	2	866	2	GFI1	1	92946526	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	3498116	92946526	156304095	3	3622											
DENND2C	163259	broad.mit.edu	37	1	115165651	115165651	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:115165651G>T	uc001efd.1	-	5	1715	c.1013C>A	c.(1012-1014)gCa>gAa	p.A338E	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.A338E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	338										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCTTCCATGCTGAAGGGGA	0.343													T	115165651	G	T	115165651	3	4	58	1	0	0	0	0	1	0	0	0	4430	1319	46	5	1662	5	DENND2C	1	115165651	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	22219125	115165651	134084970	4	3623											
USH2A	7399	broad.mit.edu	37	1	216595737	216595737	+	Translation_Start_Site	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:216595737C>T	uc001hku.1	-	1					USH2A_uc001hkv.3_5'UTR	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		ATCAGGCCCACGCCACTTGCC	0.408										HNSCC(13;0.011)			T	216595737	C	T	216595737	1	4	58	1	0	0	0	0	0	0	0	0	17033	551	19	1		1	USH2A	1	216595737	Translation_Start_Site	SNP	C	TCGA-06-0686-01A-01W-0348-08	101430086	216595737	32654884	5	3624											
HHIPL2	79802	broad.mit.edu	37	1	222717477	222717477	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:222717477G>C	uc001hnh.1	-	1	434	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	126					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGATTCCGGAGAGGCGTCTGG	0.587													C	222717477	G	C	222717477	3	2	58	1	0	0	0	0	1	0	0	0	7094	942	33	5	1830	5	HHIPL2	1	222717477	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	6121740	222717477	26533144	6	3625											
SNAP47	116841	broad.mit.edu	37	1	227935725	227935725	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:227935725T>A	uc001hrf.2	+	1	837	c.423T>A	c.(421-423)caT>caA	p.H141Q	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.H141Q|SNAP47_uc001hre.3_Intron	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	141						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCATCGAGCATTTCTGGAGGG	0.597													A	227935725	T	A	227935725	3	1	58	1	0	0	0	0	1	0	0	0	14832	1490	52	5	429	5	SNAP47	1	227935725	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	5218248	227935725	21314896	7	3626											
OR6F1	343169	broad.mit.edu	37	1	247875632	247875632	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:247875632C>T	uc001idj.1	-	0	426	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			GGGCCAGCTGCGCTGAGAGCA	0.597													T	247875632	C	T	247875632	2	4	58	1	0	0	0	0	0	0	0	1	11201	755	27	1		1	OR6F1	1	247875632	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	19939907	247875632	1374989	8	3627											
ALLC	55821	broad.mit.edu	37	2	3727521	3727521	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:3727521G>A	uc010ewt.3	+	4	396	c.235G>A	c.(235-237)Gtt>Att	p.V79I		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	98							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGACGTGGACGTTTCTTACTT	0.532										HNSCC(21;0.051)			A	3727521	G	A	3727521	3	1	58	1	0	0	0	0	1	0	0	0	534	1145	40	1	249	1	ALLC	2	3727521	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		3727521	239471852	9	3628											
TGFA	7039	broad.mit.edu	37	2	70680446	70680446	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:70680446G>A	uc002sgs.4	-	4	627	c.379C>T	c.(379-381)Cga>Tga	p.R127*	TGFA_uc010fdq.3_Nonsense_Mutation_p.R133*|TGFA_uc010fdr.3_Nonsense_Mutation_p.R132*|TGFA_uc002sgt.4_Nonsense_Mutation_p.R126*|TGFA_uc002sgu.3_Nonsense_Mutation_p.R126*|TGFA_uc002sgv.3_Nonsense_Mutation_p.R127*|TGFA_uc002sgw.3_Nonsense_Mutation_p.R126*|Mir_548_uc021vjb.1_5'Flank	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	127					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CAGTGTTTTCGGACCTGGCAG	0.632													A	70680446	G	A	70680446	4	1	58	1	0	0	0	0	0	1	0	0	15812	1124	39	2	111	2	TGFA	2	70680446	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	66952925	70680446	172518927	10	3629											
CNTNAP5	129684	broad.mit.edu	37	2	125660583	125660583	+	Silent	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:125660583G>A	uc010flu.3	+	21	3925	c.3561G>A	c.(3559-3561)gcG>gcA	p.A1187A	CNTNAP5_uc002tno.3_Silent_p.A1186A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1186	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCACTGTCGCGCCTGTGACTG	0.537													A	125660583	G	A	125660583	2	1	58	1	0	0	0	0	0	0	0	1	3650	1074	38	1		1	CNTNAP5	2	125660583	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	54980137	125660583	117538790	11	3630											
TTN	7273	broad.mit.edu	37	2	179438951	179438951	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:179438951G>A	uc021vsy.1	-	274	64429	c.64204C>T	c.(64204-64206)Cgg>Tgg	p.R21402W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15097W|TTN_uc021vta.1_Missense_Mutation_p.R15030W|TTN_uc021vtb.1_Missense_Mutation_p.R14905W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22329	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R21402C(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)			TTCAGCCACCGTCCATTAGGA	0.413													A	179438951	G	A	179438951	3	1	58	1	0	0	0	0	1	0	0	0	16732	1144	40	1	36219	1	TTN	2	179438951	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	53778368	179438951	63760422	12	3631											
TTN	7273	broad.mit.edu	37	2	179569359	179569359	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:179569359A>C	uc021vsy.1	-	101	26333	c.26108T>G	c.(26107-26109)tTt>tGt	p.F8703C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F5364C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9630	Ig-like 70.						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)			GCTTATTTCAAATTTATCACT	0.368													C	179569359	A	C	179569359	3	2	58	1	0	0	0	0	1	0	0	0	16732	14	1	5	74721	5	TTN	2	179569359	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	130408	179569359	63630014	13	3632											
ALPPL2	251	broad.mit.edu	37	2	233272379	233272379	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:233272379T>C	uc002vss.4	+	3	429	c.376T>C	c.(376-378)Ttc>Ctc	p.F126L		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	126					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CAAGGGCAACTTCCAGACCAT	0.582													C	233272379	T	C	233272379	3	2	58	1	0	0	0	0	1	0	0	0	549	1609	56	4	390	4	ALPPL2	2	233272379	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	53703020	233272379	9926994	14	3633											
CRELD1	78987	broad.mit.edu	37	3	9982660	9982660	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:9982660G>A	uc003buf.3	+	5	686	c.587G>A	c.(586-588)gGc>gAc	p.G196D	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.G196D|CRELD1_uc003bug.3_Missense_Mutation_p.G196D	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	196					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GGCCAGTGTGGCCTTGGCTAC	0.642													A	9982660	G	A	9982660	3	1	58	1	0	0	0	0	1	0	0	0	3866	1203	42	3	605	3	CRELD1	3	9982660	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		9982660	188039770	15	3634											
PLS1	5357	broad.mit.edu	37	3	142383125	142383125	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:142383125C>G	uc010huv.3	+	1	205	c.46C>G	c.(46-48)Cta>Gta	p.L16V	PLS1_uc003euz.3_Missense_Mutation_p.L16V|PLS1_uc003eva.3_Missense_Mutation_p.L16V	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	16	EF-hand 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GCTTGAAGAACTACAAGAGGC	0.333													G	142383125	C	G	142383125	3	3	58	1	0	0	0	0	1	0	0	0	12107	564	20	5	48	5	PLS1	3	142383125	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	132400465	142383125	55639305	16	3635											
GHSR	2693	broad.mit.edu	37	3	172165997	172165997	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:172165997C>T	uc003fib.2	-	0	250	c.207G>A	c.(205-207)tcG>tcA	p.S69S	GHSR_uc011bpv.2_Silent_p.S69S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	69					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.S69S(3)|p.S69T(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCGGAAGCGCGACACCACCA	0.657													T	172165997	C	T	172165997	2	4	58	1	0	0	0	0	0	0	0	1	6375	755	27	1		1	GHSR	3	172165997	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	29782872	172165997	25856433	17	3636											
FRYL	285527	broad.mit.edu	37	4	48503638	48503638	+	Splice_Site	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:48503638A>C	uc003gyh.1	-	62	9197	c.8592_splice	c.e62+1	p.E2864_splice	FRYL_uc003gye.1_Splice_Site_p.E46_splice|FRYL_uc003gyf.1_Splice_Site_p.E254_splice|FRYL_uc003gyg.1_Splice_Site_p.E1554_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2864					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGAATATTTACCTCTGCTTC	0.294													C	48503638	A	C	48503638	5	2	58	1	0	0	0	0	0	0	1	0	6064	405	14	5	459	5	FRYL	4	48503638	Splice_Site	SNP	A	TCGA-06-0686-01A-01W-0348-08		48503638	142650638	18	3637											
FRYL	285527	broad.mit.edu	37	4	48537846	48537846	+	Splice_Site	SNP	T	T	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:48537846T>C	uc003gyh.1	-	48	6999	c.6394_splice	c.e48-1	p.V2132_splice	FRYL_uc003gyg.1_Splice_Site_p.V828_splice|FRYL_uc003gyi.1_Splice_Site_p.V1020_splice|FRYL_uc003gyj.1_Splice_Site_p.V427_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2132					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGCACAAACCTAGAAAACAAA	0.318													C	48537846	T	C	48537846	5	2	58	1	0	0	0	0	0	0	1	0	6064	1536	53	4	2717	4	FRYL	4	48537846	Splice_Site	SNP	T	TCGA-06-0686-01A-01W-0348-08	34208	48537846	142616430	19	3638											
NPY5R	4889	broad.mit.edu	37	4	164272650	164272650	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:164272650A>G	uc003iqn.3	+	3	1407	c.1225A>G	c.(1225-1227)Att>Gtt	p.I409V	NPY5R_uc021xtw.1_Missense_Mutation_p.I409V	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	409					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTGTATTGCATTTGTCATTT	0.348													G	164272650	A	G	164272650	3	3	58	1	0	0	0	0	1	0	0	0	10610	217	8	4	1227	4	NPY5R	4	164272650	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	115734804	164272650	26881626	20	3639											
TRIML1	339976	broad.mit.edu	37	4	189065255	189065255	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:189065255C>T	uc003izm.1	+	4	939	c.824C>T	c.(823-825)aCg>aTg	p.T275M	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	275	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.T275T(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)		TGCCGCATCACGGGAATGAAG	0.527													T	189065255	C	T	189065255	3	4	58	1	0	0	0	0	1	0	0	0	16547	536	19	1	842	1	TRIML1	4	189065255	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	24792605	189065255	2089021	21	3640											
CTNND2	1501	broad.mit.edu	37	5	11082954	11082954	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:11082954G>A	uc003jfa.1	-	15	2787	c.2642C>T	c.(2641-2643)tCa>tTa	p.S881L	CTNND2_uc010itt.2_Missense_Mutation_p.S790L|CTNND2_uc011cmy.1_Missense_Mutation_p.S544L|CTNND2_uc011cmz.1_Missense_Mutation_p.S448L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S473L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	881					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATATATACTGACCACTGCAA	0.537													A	11082954	G	A	11082954	3	1	58	1	0	0	0	0	1	0	0	0	4020	1294	45	3	1063	3	CTNND2	5	11082954	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		11082954	169832306	22	3641											
AP3B1	8546	broad.mit.edu	37	5	77311333	77311333	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:77311333A>G	uc003kfj.3	-	25	3157	c.3032T>C	c.(3031-3033)aTt>aCt	p.I1011T		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	1011					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGGTGCAGCAATGATTACAGC	0.383									Hermansky-Pudlak syndrome				G	77311333	A	G	77311333	3	3	58	1	0	0	0	0	1	0	0	0	744	101	4	4	260	4	AP3B1	5	77311333	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	66228379	77311333	103603927	23	3642											
GPR150	285601	broad.mit.edu	37	5	94956705	94956705	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:94956705C>T	uc003kle.1	+	0	726	c.726C>T	c.(724-726)gtC>gtT	p.V242V		NM_199243	NP_954713	Q8NGU9	GP150_HUMAN	Homo sapiens G protein-coupled receptor 150 (GPR150), mRNA.	242						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CGGGCTTCGTCGCGCCTGTTA	0.751													T	94956705	C	T	94956705	2	4	58	1	0	0	0	0	0	0	0	1	6656	871	31	2		2	GPR150	5	94956705	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	17645372	94956705	85958555	24	3643											
PPIC	5480	broad.mit.edu	37	5	122359634	122359634	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:122359634G>A	uc003kth.3	-	4	680	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	192	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	p.S192S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	GTTGATGATCGAGCAGTTGGT	0.478													A	122359634	G	A	122359634	3	1	58	1	0	0	0	0	1	0	0	0	12320	1059	37	2	67	2	PPIC	5	122359634	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	27402929	122359634	58555626	25	3644											
SLC12A2	6558	broad.mit.edu	37	5	127520072	127520072	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:127520072A>G	uc003kus.3	+	24	3478	c.3314A>G	c.(3313-3315)gAg>gGg	p.E1105G	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.E1089G	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	1105					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATAGCTTTTGAGGAAATCATT	0.289													G	127520072	A	G	127520072	3	3	58	1	0	0	0	0	1	0	0	0	14383	304	11	4	3412	4	SLC12A2	5	127520072	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	5160438	127520072	53395188	26	3645											
PCDHAC2	56136	broad.mit.edu	37	5	140263877	140263877	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:140263877C>T	uc003lif.2	+	0	2024	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.A675V|PCDHAC2_uc003lid.3_Missense_Mutation_p.A675V	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	688	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A675V(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGCCAAGCGCCACAGGCT	0.662													T	140263877	C	T	140263877	3	4	58	1	0	0	0	0	1	0	0	0	11533	768	27	1		1	PCDHAC2	5	140263877	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	12743805	140263877	40651383	27	3646											
PDGFRB	5159	broad.mit.edu	37	5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:149503887G>A	uc003lro.3	-	13	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	650	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								A	149503887	G	A	149503887	3	1	58	1	0	0	0	0	1	0	0	0	11662	1059	37	2	1411	2	PDGFRB	5	149503887	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	9240010	149503887	31411373	28	3647											
GABRG2	2566	broad.mit.edu	37	5	161520964	161520964	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:161520964A>G	uc010jjc.3	+	1	596	c.238A>G	c.(238-240)Aaa>Gaa	p.K80E	GABRG2_uc003lyy.4_Missense_Mutation_p.K80E|GABRG2_uc003lyz.4_Missense_Mutation_p.K80E|GABRG2_uc011dej.2_5'UTR	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	80					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATATGACAATAAACTTCGGCC	0.373													G	161520964	A	G	161520964	3	3	58	1	0	0	0	0	1	0	0	0	6172	363	13	4	244	4	GABRG2	5	161520964	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	12017077	161520964	19394296	29	3648											
GRM6	2916	broad.mit.edu	37	5	178415969	178415969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:178415969G>A	uc003mjr.3	-	5	1500	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	GRM6_uc010jla.1_Missense_Mutation_p.L24F|GRM6_uc003mjs.1_Missense_Mutation_p.L61F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	441					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		TACTGCAGAAGCATCCGCCCA	0.642													A	178415969	G	A	178415969	3	1	58	1	0	0	0	0	1	0	0	0	6801	971	34	3	1332	3	GRM6	5	178415969	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	16895005	178415969	2499291	30	3649											
ZNF184	7738	broad.mit.edu	37	6	27420960	27420960	+	Silent	SNP	T	T	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr6:27420960T>G	uc003njj.3	-	4	1189	c.378A>C	c.(376-378)atA>atC	p.I126I	ZNF184_uc010jqv.3_Silent_p.I126I|ZNF184_uc003nji.3_Silent_p.I126I	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						GTTTTTCCACTATTACCTCTG	0.413													G	27420960	T	G	27420960	2	3	58	1	0	0	0	0	0	0	0	1	17748	1512	53	5		5	ZNF184	6	27420960	Silent	SNP	T	TCGA-06-0686-01A-01W-0348-08		27420960	143694107	31	3650											
OR2H1	26716	broad.mit.edu	37	6	29430405	29430405	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr6:29430405G>A	uc003nmi.3	+	2	1302	c.859G>A	c.(859-861)Gta>Ata	p.V287I	OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.2_Missense_Mutation_p.V209I|OR2H1_uc021ytr.1_Missense_Mutation_p.V287I	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TAACCCTCTCGTATACACCCT	0.493													A	29430405	G	A	29430405	3	1	58	1	0	0	0	0	1	0	0	0	11001	1145	40	1	861	1	OR2H1	6	29430405	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	2009445	29430405	141684662	32	3651											
SUN3	256979	broad.mit.edu	37	7	48035742	48035742	+	Silent	SNP	T	T	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:48035742T>A	uc003tof.3	-	8	675	c.578_splice	c.e8-1	p.G193_splice	SUN3_uc010kyq.3_Splice_Site_p.G93_splice|SUN3_uc003tog.3_Splice_Site_p.G193_splice|SUN3_uc011kcf.2_Splice_Site_p.G181_splice	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	193	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGATGGAGGCTCCTAAAATTA	0.313													A	48035742	T	A	48035742	2	1	58	1	0	0	0	0	0	0	0	1	15390	1565	54	5		5	SUN3	7	48035742	Silent	SNP	T	TCGA-06-0686-01A-01W-0348-08		48035742	111102921	33	3652											
ADAM22	53616	broad.mit.edu	37	7	87704970	87704970	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:87704970G>A	uc003ujn.3	+	3	568	c.353G>A	c.(352-354)aGa>aAa	p.R118K	ADAM22_uc003uji.2_Missense_Mutation_p.R117K|ADAM22_uc003ujj.2_Missense_Mutation_p.R118K|ADAM22_uc003ujk.2_Missense_Mutation_p.R118K|ADAM22_uc003ujl.2_Missense_Mutation_p.R118K|ADAM22_uc003ujm.3_Missense_Mutation_p.R118K|ADAM22_uc003ujo.3_Missense_Mutation_p.R118K|ADAM22_uc003ujp.1_Missense_Mutation_p.R170K	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	118					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TACATAGAGAGACACATTGAA	0.338													A	87704970	G	A	87704970	3	1	58	1	0	0	0	0	1	0	0	0	244	942	33	3	367	3	ADAM22	7	87704970	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	39669228	87704970	71433693	34	3653											
SAMD9L	219285	broad.mit.edu	37	7	92764397	92764397	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:92764397G>T	uc003umh.1	-	4	2104	c.888C>A	c.(886-888)aaC>aaA	p.N296K	SAMD9L_uc003umj.1_Missense_Mutation_p.N296K|SAMD9L_uc003umi.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfb.1_Missense_Mutation_p.N296K|SAMD9L_uc003umk.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfc.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfd.1_Missense_Mutation_p.N296K|SAMD9L_uc022ahh.1_Missense_Mutation_p.N296K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	296										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGGTGTATTGTTCTGCAGAA	0.338													T	92764397	G	T	92764397	3	4	58	1	0	0	0	0	1	0	0	0	13827	1368	48	5	3870	5	SAMD9L	7	92764397	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	5059427	92764397	66374266	35	3654											
AZGP1	563	broad.mit.edu	37	7	99564649	99564649	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:99564649C>G	uc003ush.3	-	3	966	c.874G>C	c.(874-876)Gtg>Ctg	p.V292L		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	292	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGGGCACCACGAGGGGCTGG	0.637													G	99564649	C	G	99564649	3	3	58	1	0	0	0	0	1	0	0	0	1239	536	19	5	26	5	AZGP1	7	99564649	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	6800252	99564649	59574014	36	3655											
TRPV6	55503	broad.mit.edu	37	7	142572331	142572331	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:142572331delG	uc003wbx.2	-	10	1594	c.1365delC	c.(1363-1365)tccfs	p.S455fs	TRPV6_uc003wbw.1_Frame_Shift_Del_p.S241fs|TRPV6_uc010lou.1_Frame_Shift_Del_p.S326fs	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	455					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CGAGTGCAAAGGACATGGGTA	0.592													-	142572331	G	-	142572331	7	5	58	1	0	1	0	1	0	0	0	0	16597	987	35	0	832	0	TRPV6	7	142572331	Frame_Shift_Del	DEL	G	TCGA-06-0686-01A-01W-0348-08	43007682	142572331	16566332	37	3656											
ARHGEF10	9639	broad.mit.edu	37	8	1808147	1808147	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:1808147C>T	uc003wpr.3	+	3	456	c.278C>T	c.(277-279)tCt>tTt	p.S93F	ARHGEF10_uc003wpq.1_Missense_Mutation_p.S117F|ARHGEF10_uc003wps.3_Missense_Mutation_p.S93F|ARHGEF10_uc003wpt.3_Missense_Mutation_p.S7F|ARHGEF10_uc010lrd.2_Missense_Mutation_p.S7F|ARHGEF10_uc003wpu.3_Missense_Mutation_p.S7F	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	117					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)		AACCCATATTCTGTCATCGAC	0.597													T	1808147	C	T	1808147	3	4	58	1	0	0	0	0	1	0	0	0	894	913	32	3	288	3	ARHGEF10	8	1808147	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		1808147	144555875	38	3657											
CHD7	55636	broad.mit.edu	37	8	61769309	61769309	+	Silent	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:61769309G>A	uc003xue.3	+	33	7962	c.7470G>A	c.(7468-7470)tcG>tcA	p.S2490S	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2490					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGCCTTTCGCGCACACCCA	0.483													A	61769309	G	A	61769309	2	1	58	1	0	0	0	0	0	0	0	1	3330	1074	38	1		1	CHD7	8	61769309	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	59961162	61769309	84594713	39	3658											
C8orf34	116328	broad.mit.edu	37	8	69621313	69621313	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:69621313C>T	uc010lyz.3	+	9	1618	c.1327_splice	c.e9+1	p.D443_splice	C8orf34_uc003xyb.3_Splice_Site_p.D332_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	357					signal transduction		cAMP-dependent protein kinase regulator activity	p.F331F(1)|p.F356F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATTCATTCGGTAAGTTTT	0.343													T	69621313	C	T	69621313	2	4	58	1	0	0	0	0	0	0	0	1	2422	898	31	2		2	C8orf34	8	69621313	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	7852004	69621313	76742709	40	3659											
KCNB2	9312	broad.mit.edu	37	8	73849588	73849588	+	Silent	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:73849588G>A	uc003xzb.3	+	2	2586	c.1998G>A	c.(1996-1998)acG>acA	p.T666T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	666					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGGATGGCACGCTGGAGTATG	0.567													A	73849588	G	A	73849588	2	1	58	1	0	0	0	0	0	0	0	1	8013	1074	38	1		1	KCNB2	8	73849588	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	4228275	73849588	72514434	41	3660											
CCNE2	9134	broad.mit.edu	37	8	95900206	95900206	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:95900206A>C	uc003yhc.3	-	6	653	c.549T>G	c.(547-549)aaT>aaG	p.N183K	CCNE2_uc003yhd.2_Missense_Mutation_p.N183K	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	183					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GTTGAAGCATATTTTTATTTA	0.284													C	95900206	A	C	95900206	3	2	58	1	0	0	0	0	1	0	0	0	2921	446	16	5	689	5	CCNE2	8	95900206	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	22050618	95900206	50463816	42	3661											
ENPP2	5168	broad.mit.edu	37	8	120569830	120569830	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:120569830C>T	uc003yos.2	-	25	2765	c.2679G>A	c.(2677-2679)aaG>aaA	p.K893K	ENPP2_uc011lic.2_Silent_p.K379K|ENPP2_uc003yor.2_Silent_p.K476K|ENPP2_uc010mdd.2_Silent_p.K866K|ENPP2_uc003yot.2_Silent_p.K841K	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	841					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.R892Q(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCGGCTGGTCTTTCGGAAGA	0.468													T	120569830	C	T	120569830	2	4	58	1	0	0	0	0	0	0	0	1	5130	912	32	3		3	ENPP2	8	120569830	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	24669624	120569830	25794192	43	3662											
COL14A1	7373	broad.mit.edu	37	8	121326187	121326187	+	Missense_Mutation	SNP	G	G	A	rs142082215		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:121326187G>A	uc003yox.3	+	37	4737	c.4472G>A	c.(4471-4473)cGg>cAg	p.R1491Q	COL14A1_uc003yoz.3_Missense_Mutation_p.R456Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1491	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			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)			GATGGCCCTCGGGGTGAAATT	0.468													A	121326187	G	A	121326187	3	1	58	1	0	0	0	0	1	0	0	0	3671	1116	39	2	4618	2	COL14A1	8	121326187	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	756357	121326187	25037835	44	3663											
COL22A1	169044	broad.mit.edu	37	8	139606377	139606377	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:139606377C>A	uc003yvd.3	-	62	4945	c.4498G>T	c.(4498-4500)Ggg>Tgg	p.G1500W	COL22A1_uc011ljo.2_Missense_Mutation_p.G780W	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1500	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			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)			CCTGGGGGCCCAGGTCTGCCT	0.632										HNSCC(7;0.00092)			A	139606377	C	A	139606377	3	1	58	1	0	0	0	0	1	0	0	0	3681	594	21	5	394	5	COL22A1	8	139606377	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	18280190	139606377	6757645	45	3664											
IL15RA	3601	broad.mit.edu	37	10	5995110	5995110	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:5995110C>A	uc021pmo.1	-	7	1024	c.1010G>T	c.(1009-1011)tGg>tTg	p.W337L	IL15RA_uc010qau.2_Missense_Mutation_p.W218L|IL15RA_uc021pmp.1_Missense_Mutation_p.W188L|IL15RA_uc001iiv.3_Missense_Mutation_p.W251L|IL15RA_uc001iiw.3_Missense_Mutation_p.W215L|IL15RA_uc001iiy.3_Missense_Mutation_p.W99L	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	251					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGGTCCCCCAAGTCACCGG	0.557													A	5995110	C	A	5995110	3	1	58	1	0	0	0	0	1	0	0	0	7632	595	21	5	55	5	IL15RA	10	5995110	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		5995110	129539637	46	3665											
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:51754173G>T	uc001jix.4	+	3	778	c.380G>T	c.(379-381)aGc>aTc	p.S127I		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(4)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269													T	51754173	G	T	51754173	3	4	58	1	0	0	0	0	1	0	0	0	372	971	34	5	394	5	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	45759063	51754173	83780574	47	3666											
DUSP13	51207	broad.mit.edu	37	10	76867879	76867879	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:76867879C>T	uc001jws.3	-	1	293	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	DUSP13_uc001jwu.3_Intron|DUSP13_uc001jww.3_Intron|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_Intron	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 1, mRNA.	80	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AAGTCAGGGCCGCCCTGACAG	0.622													T	76867879	C	T	76867879	3	4	58	1	0	0	0	0	1	0	0	0	4813	652	23	2	1232	2	DUSP13	10	76867879	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	25113706	76867879	58666868	48	3667											
MUC2	4583	broad.mit.edu	37	11	1078153	1078153	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:1078153G>T	uc001lsx.1	+	3	547	c.520G>T	c.(520-522)Ggc>Tgc	p.G174C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	174	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGACTACAACGGCCTGCAGAG	0.667													T	1078153	G	T	1078153	3	4	58	1	0	0	0	0	1	0	0	0	9975	1116	39	5	534	5	MUC2	11	1078153	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		1078153	133928363	49	3668											
UBQLN3	50613	broad.mit.edu	37	11	5529867	5529867	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:5529867A>T	uc021qcw.1	-	0	922	c.922T>A	c.(922-924)Tcc>Acc	p.S308T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.S308T	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	308										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTGTGGAAGTCCAGGGG	0.517													T	5529867	A	T	5529867	3	4	58	1	0	0	0	0	1	0	0	0	16895	246	9	5	1049	5	UBQLN3	11	5529867	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	4451714	5529867	129476649	50	3669											
GYLTL1B	120071	broad.mit.edu	37	11	45946107	45946107	+	Silent	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:45946107A>C	uc001nbv.1	+	4	654	c.543A>C	c.(541-543)ctA>ctC	p.L181L	GYLTL1B_uc001nbw.1_Silent_p.L150L|GYLTL1B_uc001nbx.1_Silent_p.L181L	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	181					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TCTATGGGCTAATGAAGCTGG	0.612													C	45946107	A	C	45946107	2	2	58	1	0	0	0	0	0	0	0	1	6907	349	13	5		5	GYLTL1B	11	45946107	Silent	SNP	A	TCGA-06-0686-01A-01W-0348-08	40416240	45946107	89060409	51	3670											
OR4S2	219431	broad.mit.edu	37	11	55419288	55419288	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:55419288T>A	uc001nhs.1	+	0	909	c.909T>A	c.(907-909)aaT>aaA	p.N303K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGGGCAGAAATGTTTTCTTGG	0.358													A	55419288	T	A	55419288	3	1	58	1	0	0	0	0	1	0	0	0	11083	1461	51	5	911	5	OR4S2	11	55419288	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	9473181	55419288	79587228	52	3671											
MRE11A	4361	broad.mit.edu	37	11	94192689	94192689	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:94192689A>T	uc009ywj.2	-	12	1714	c.1394T>A	c.(1393-1395)gTg>gAg	p.V465E	MRE11A_uc001peu.2_Missense_Mutation_p.V462E|MRE11A_uc001pev.2_Missense_Mutation_p.V462E			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	462					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTCCTTGTCCACAAATTCTTG	0.398								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				T	94192689	A	T	94192689	3	4	58	1	0	0	0	0	1	0	0	0	9759	159	6	5	773	5	MRE11A	11	94192689	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	38773401	94192689	40813827	53	3672											
PIWIL4	143689	broad.mit.edu	37	11	94328516	94328516	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:94328516G>A	uc001pfa.3	+	9	1403	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	398					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTGATGAAGGCTGTGGCTGA	0.502													A	94328516	G	A	94328516	3	1	58	1	0	0	0	0	1	0	0	0	11960	1203	42	3	1230	3	PIWIL4	11	94328516	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	135827	94328516	40678000	54	3673											
INHBE	83729	broad.mit.edu	37	12	57849443	57849443	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr12:57849443C>G	uc001snw.3	+	0	348	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	42					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						AGAACGAGCTCTGGTGCTGGA	0.622													G	57849443	C	G	57849443	3	3	58	1	0	0	0	0	1	0	0	0	7744	912	32	5	126	5	INHBE	12	57849443	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		57849443	76002452	55	3674											
KCNRG	283518	broad.mit.edu	37	13	50589662	50589662	+	Silent	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr13:50589662G>C	uc001vdu.3	+	0	273	c.33G>C	c.(31-33)gtG>gtC	p.V11V	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Silent_p.V11V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	11	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	p.V11M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CTTTGAATGTGGGAGGGAAGA	0.433													C	50589662	G	C	50589662	2	2	58	1	0	0	0	0	0	0	0	1	8087	1335	47	5		5	KCNRG	13	50589662	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08		50589662	64580216	56	3675											
NEK3	4752	broad.mit.edu	37	13	52715184	52715184	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr13:52715184A>G	uc001vgh.3	-						NEK3_uc001vgi.3_Missense_Mutation_p.I299T|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Intron	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.						cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TCCCAAAGCTATCCTGATTCT	0.428													G	52715184	A	G	52715184	3	3	58	1	0	0	0	0	1	0	0	0	10325	449	16	4	645	4	NEK3	13	52715184	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	2125522	52715184	62454694	57	3676											
CTSG	1511	broad.mit.edu	37	14	25043567	25043567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:25043567G>A	uc001wpq.3	-	3	515	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	160	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.R160*(2)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGCACCTCTCGGAGTGTATCT	0.642													A	25043567	G	A	25043567	4	1	58	1	0	0	0	0	0	1	0	0	4035	1124	39	2	297	2	CTSG	14	25043567	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		25043567	82305973	58	3677											
CLMN	79789	broad.mit.edu	37	14	95669370	95669370	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:95669370C>G	uc001yef.2	-	8	2432	c.2316G>C	c.(2314-2316)gaG>gaC	p.E772D		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	772						integral to membrane	actin binding	p.E771K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CATCGGCCTCCTCCTCCCTGG	0.567													G	95669370	C	G	95669370	3	3	58	1	0	0	0	0	1	0	0	0	3542	680	24	5	712	5	CLMN	14	95669370	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	70625803	95669370	11680170	59	3678											
HHIPL1	84439	broad.mit.edu	37	14	100118755	100118755	+	Silent	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:100118755C>T	uc010avs.3	+	1	515	c.450C>T	c.(448-450)tcC>tcT	p.S150S	HHIPL1_uc001ygl.1_Silent_p.S150S	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	150					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCTACCTGTCCCTGGATGACA	0.602													T	100118755	C	T	100118755	2	4	58	1	0	0	0	0	0	0	0	1	7093	610	22	3		3	HHIPL1	14	100118755	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	4449385	100118755	7230785	60	3679											
ZNF609	23060	broad.mit.edu	37	15	64966530	64966530	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:64966530G>A	uc002ann.3	+	3	1477	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	493						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCTCCCCCGTCCTAATTGA	0.522													A	64966530	G	A	64966530	3	1	58	1	0	0	0	0	1	0	0	0	18032	1145	40	1	1491	1	ZNF609	15	64966530	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		64966530	37564862	61	3680											
ISLR	3671	broad.mit.edu	37	15	74468444	74468444	+	Silent	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:74468444G>C	uc002axg.1	+	1	1527	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	ISLR_uc002axh.1_Silent_p.L415L|ISLR_uc021sqf.1_Silent_p.L415L	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	415					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGCTCCTGCTGGGCCAAAGCC	0.617													C	74468444	G	C	74468444	2	2	58	1	0	0	0	0	0	0	0	1	7858	1335	47	5		5	ISLR	15	74468444	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	9501914	74468444	28062948	62	3681											
ARNT2	9915	broad.mit.edu	37	15	80845010	80845010	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:80845010G>T	uc002bfr.3	+	9	1150	c.984G>T	c.(982-984)atG>atT	p.M328I	ARNT2_uc010unm.2_Missense_Mutation_p.M317I|ARNT2_uc002bfs.3_Missense_Mutation_p.M317I	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	328	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.M328I(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCATGGACATGAATGGGATGT	0.493													T	80845010	G	T	80845010	3	4	58	1	0	0	0	0	1	0	0	0	966	1290	45	5	1022	5	ARNT2	15	80845010	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	6376566	80845010	21686382	63	3682											
C15orf26	161502	broad.mit.edu	37	15	81428924	81428924	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:81428924A>G	uc002bgb.3	+	2	254	c.227A>G	c.(226-228)gAt>gGt	p.D76G	C15orf26_uc010blp.1_Missense_Mutation_p.D51G	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	76										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTGAATCCTGATGATCCTGAC	0.408													G	81428924	A	G	81428924	3	3	58	1	0	0	0	0	1	0	0	0	1787	333	12	4	237	4	C15orf26	15	81428924	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	583914	81428924	21102468	64	3683											
PAQR4	124222	broad.mit.edu	37	16	3021597	3021597	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:3021597C>T	uc002csj.4	+	2	804	c.470C>T	c.(469-471)tCg>tTg	p.S157L	PAQR4_uc002csk.4_Missense_Mutation_p.S118L|PAQR4_uc002csl.4_Missense_Mutation_p.S83L|PAQR4_uc010uwm.2_Missense_Mutation_p.S88L	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	157						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTGTGTTGTCGGGTGTGGCC	0.687													T	3021597	C	T	3021597	3	4	58	1	0	0	0	0	1	0	0	0	11437	893	31	2	480	2	PAQR4	16	3021597	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		3021597	87333156	65	3684											
MYH11	4629	broad.mit.edu	37	16	15841499	15841499	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:15841499T>C	uc002ddx.3	-	19	2467	c.2360A>G	c.(2359-2361)gAg>gGg	p.E787G	MYH11_uc002ddv.3_Missense_Mutation_p.E787G|MYH11_uc002ddw.3_Missense_Mutation_p.E780G|MYH11_uc002ddy.3_Missense_Mutation_p.E780G|MYH11_uc010bvg.3_Missense_Mutation_p.E612G	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	780	IQ.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.I786T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCTCGCTCCTCCTCTAGGTG	0.498			T	CBFB	AML								C	15841499	T	C	15841499	3	2	58	1	0	0	0	0	1	0	0	0	10031	1551	54	4	3706	4	MYH11	16	15841499	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	12819902	15841499	74513254	66	3685											
RBBP6	5930	broad.mit.edu	37	16	24582927	24582927	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:24582927A>C	uc002dmh.3	+	17	5580	c.4540A>C	c.(4540-4542)Aaa>Caa	p.K1514Q	RBBP6_uc002dmi.3_Missense_Mutation_p.K1480Q|RBBP6_uc010bxr.3_Missense_Mutation_p.K674Q|RBBP6_uc002dmk.3_Missense_Mutation_p.K1347Q	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1514	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACAGAAAAATAAACCAAGGGA	0.368													C	24582927	A	C	24582927	3	2	58	1	0	0	0	0	1	0	0	0	13103	363	13	5	4664	5	RBBP6	16	24582927	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	8741428	24582927	65771826	67	3686											
RNF40	9810	broad.mit.edu	37	16	30774800	30774800	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:30774800C>A	uc002dzq.3	+	3	1182	c.362C>A	c.(361-363)gCg>gAg	p.A121E	C16orf93_uc002dzo.3_5'Flank|C16orf93_uc021tgp.1_5'Flank|C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Missense_Mutation_p.A121E|RNF40_uc010cab.3_Missense_Mutation_p.A121E|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.A121E	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	121					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGTCTTCAGCGCCTGAGGCA	0.562													A	30774800	C	A	30774800	3	1	58	1	0	0	0	0	1	0	0	0	13493	768	27	5	372	5	RNF40	16	30774800	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	6191873	30774800	59579953	68	3687											
ZNF23	7571	broad.mit.edu	37	16	71483233	71483233	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:71483233C>A	uc002faf.3	-	5	1509	c.695G>T	c.(694-696)aGc>aTc	p.S232I	ZNF23_uc002fah.3_Missense_Mutation_p.S232I|ZNF23_uc002fad.3_Missense_Mutation_p.S174I|ZNF23_uc010vmf.2_Missense_Mutation_p.S174I|ZNF23_uc002fag.3_Missense_Mutation_p.S174I|ZNF23_uc002fai.3_Missense_Mutation_p.S271I	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GTAGCTGAAGCTTTTCCCACA	0.448													A	71483233	C	A	71483233	3	1	58	1	0	0	0	0	1	0	0	0	17780	797	28	5	1240	5	ZNF23	16	71483233	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	40708433	71483233	18871520	69	3688											
SMARCD2	6603	broad.mit.edu	37	17	61912798	61912798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:61912798G>A	uc010deb.1	-	4	1014	c.697C>T	c.(697-699)Cga>Tga	p.R233*	SMARCD2_uc010wpt.1_Nonsense_Mutation_p.R185*|SMARCD2_uc010dea.1_Nonsense_Mutation_p.R158*	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	233					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CCTTCCACTCGGAGTTCCCAG	0.572													A	61912798	G	A	61912798	4	1	58	1	0	0	0	0	0	1	0	0	14778	1124	39	2	934	2	SMARCD2	17	61912798	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		61912798	19282412	70	3689											
ABCA8	10351	broad.mit.edu	37	17	66928560	66928560	+	Silent	SNP	A	A	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:66928560A>T	uc002jhq.3	-	6	1006	c.666T>A	c.(664-666)acT>acA	p.T222T	ABCA8_uc002jhp.3_Silent_p.T222T|ABCA8_uc010wqq.2_Silent_p.T222T|ABCA8_uc010wqr.2_Silent_p.T161T|ABCA8_uc002jhr.3_Silent_p.T222T|ABCA8_uc002jhs.3_Silent_p.T222T|ABCA8_uc002jht.3_Silent_p.T222T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	222						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTACAAATCAGTTATAACTC	0.363													T	66928560	A	T	66928560	2	4	58	1	0	0	0	0	0	0	0	1	38	175	7	5		5	ABCA8	17	66928560	Silent	SNP	A	TCGA-06-0686-01A-01W-0348-08	5015762	66928560	14266650	71	3690											
CD7	924	broad.mit.edu	37	17	80274786	80274786	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:80274786C>A	uc002kel.1	-	1	263	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W	CD7_uc010din.3_Missense_Mutation_p.G52W|CD7_uc010wvk.1_Missense_Mutation_p.G52W	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	52	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	p.S51S(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CGCAGGCCCCCGCTGGTGGAG	0.647													A	80274786	C	A	80274786	3	1	58	1	0	0	0	0	1	0	0	0	3032	652	23	5	580	5	CD7	17	80274786	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	13346226	80274786	920424	72	3691											
MUC16	94025	broad.mit.edu	37	19	9015333	9015333	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:9015333C>T	uc002mkp.3	-	29	38459	c.38255G>A	c.(38254-38256)aGa>aAa	p.R12752K	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12754	SEA 5.			Missing (in Ref. 3; AAK74120).	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						CAAGGTCAGTCTGCAGCCAGA	0.517													T	9015333	C	T	9015333	3	4	58	1	0	0	0	0	1	0	0	0	9973	913	32	3	5488	3	MUC16	19	9015333	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		9015333	50113650	73	3692											
CYP4F3	4051	broad.mit.edu	37	19	15758065	15758065	+	Silent	SNP	G	G	A	rs138865516		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:15758065G>A	uc010xok.2	+	4	506	c.456G>A	c.(454-456)acG>acA	p.T152T	CYP4F3_uc010xol.2_Silent_p.T152T|CYP4F3_uc002nbj.3_Silent_p.T152T|CYP4F3_uc010xom.2_Silent_p.T3T|CYP4F3_uc002nbk.3_Silent_p.T152T|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	152					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGATGCTGACGCCTGCCTTCC	0.552													A	15758065	G	A	15758065	2	1	58	1	0	0	0	0	0	0	0	1	4190	1074	38	1		1	CYP4F3	19	15758065	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	6742732	15758065	43370918	74	3693											
ZNF493	284443	broad.mit.edu	37	19	21606980	21606980	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:21606980C>T	uc002npw.3	+	3	1638	c.1519C>T	c.(1519-1521)Cat>Tat	p.H507Y	ZNF493_uc002npx.3_Missense_Mutation_p.H379Y|ZNF493_uc002npy.3_Missense_Mutation_p.H379Y|ZNF493_uc021urq.1_Missense_Mutation_p.H379Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						CCTTAGTATACATAAAATAAT	0.328													T	21606980	C	T	21606980	3	4	58	1	0	0	0	0	1	0	0	0	17941	478	17	3	1596	3	ZNF493	19	21606980	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	5848915	21606980	37522003	75	3694											
ZSCAN5A	79149	broad.mit.edu	37	19	56733609	56733609	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:56733609C>T	uc002qmq.3	-	4	992	c.826G>A	c.(826-828)Gtt>Att	p.V276I	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.V159I|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.V276I|ZSCAN5A_uc002qms.1_Missense_Mutation_p.V275I	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	276					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCTCCACAACGCAGGCAGAA	0.527													T	56733609	C	T	56733609	3	4	58	1	0	0	0	0	1	0	0	0	18235	536	19	1	668	1	ZSCAN5A	19	56733609	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	35126629	56733609	2395374	76	3695											
GRIK1	2897	broad.mit.edu	37	21	31023612	31023612	+	Splice_Site	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr21:31023612C>T	uc002yno.1	-	6	1245	c.781_splice	c.e6-1	p.D261_splice	GRIK1_uc002ynn.3_Splice_Site_p.D261_splice|GRIK1_uc011acs.2_Splice_Site_p.D261_splice|GRIK1_uc011act.2_Splice_Site_p.D205_splice|GRIK1_uc010glq.1_Splice_Site_p.D119_splice|GRIK1_uc002ynr.3_Splice_Site_p.D261_splice	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	261					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAAATAAGTCCTGCATAGTAT	0.353													T	31023612	C	T	31023612	5	4	58	1	0	0	0	0	0	0	1	0	6773	695	24	3	2184	3	GRIK1	21	31023612	Splice_Site	SNP	C	TCGA-06-0686-01A-01W-0348-08		31023612	17106283	77	3696											
CBS	875	broad.mit.edu	37	21	44478273	44478273	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr21:44478273G>C	uc002zcu.2	-	14	1694	c.1449C>G	c.(1447-1449)atC>atG	p.I483M	CBS_uc002zcs.1_Missense_Mutation_p.I378M|CBS_uc002zct.2_Missense_Mutation_p.I483M|CBS_uc002zcw.3_Missense_Mutation_p.I483M|CBS_uc002zcv.2_Missense_Mutation_p.I483M	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	483					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACTGCTTGTAGATGACTTTGC	0.567													C	44478273	G	C	44478273	3	2	58	1	0	0	0	0	1	0	0	0	2711	932	33	5	218	5	CBS	21	44478273	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	13454661	44478273	3651622	78	3697											
BMP15	9210	broad.mit.edu	37	X	50659431	50659431	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chrX:50659431C>A	uc011mnw.2	+	1	1052	c.1003C>A	c.(1003-1005)Ccc>Acc	p.P335T		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	335					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCTCAATTCCCCCAATCACGC	0.502													A	50659431	C	A	50659431	3	1	58	1	0	0	0	0	1	0	0	0	1458	623	22	5	1009	5	BMP15	23	50659431	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		50659431	104611129	79	3698											
BCORL1	63035	broad.mit.edu	37	X	129162640	129162640	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chrX:129162640C>T	uc022cdu.1	+	6	4153	c.4109C>T	c.(4108-4110)tCc>tTc	p.S1370F	BCORL1_uc010nrd.1_Missense_Mutation_p.S1142F|BCORL1_uc004evc.2_Missense_Mutation_p.S132F	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1370					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				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						AAGACTTCCTCCTCCCAAAGT	0.483											OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	129162640	C	T	129162640	3	4	58	1	0	0	0	0	1	0	0	0	1387	855	30	3	4135	3	BCORL1	23	129162640	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	78503209	129162640	26107920	80	3699											
ARHGEF16	27237	broad.mit.edu	37	1	3389688	3389688	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:3389688G>A	uc001akg.4	+	6	1317	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	ARHGEF16_uc001aki.3_Missense_Mutation_p.E69K|ARHGEF16_uc001akj.3_Missense_Mutation_p.E69K|ARHGEF16_uc009vli.1_Missense_Mutation_p.E61K|ARHGEF16_uc010nzh.2_Missense_Mutation_p.E61K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	357	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGTGCTGGTCGAGGACATCAG	0.632													A	3389688	G	A	3389688	3	1	59	1	0	0	0	0	1	0	0	0	899	1059	37	2	1091	2	ARHGEF16	1	3389688	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		3389688	245860933	1	3700											
MAST2	23139	broad.mit.edu	37	1	46500629	46500629	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:46500629C>T	uc001cov.3	+	28	4571	c.4288C>T	c.(4288-4290)Ctt>Ttt	p.L1430F	MAST2_uc001cow.3_Missense_Mutation_p.L1429F|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1430					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAAGCACAGCCTTGACCTGCC	0.592													T	46500629	C	T	46500629	3	4	59	1	0	0	0	0	1	0	0	0	9325	681	24	3	4402	3	MAST2	1	46500629	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	43110941	46500629	202749992	2	3701											
CC2D1B	200014	broad.mit.edu	37	1	52820329	52820329	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:52820329A>G	uc001ctq.2	-	22	2550	c.2399T>C	c.(2398-2400)cTg>cCg	p.L800P	CC2D1B_uc001ctr.3_Missense_Mutation_p.L340P|CC2D1B_uc001cts.3_Missense_Mutation_p.L485P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	800										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTCCAGTTTCAGGTGTGCTGT	0.567													G	52820329	A	G	52820329	3	3	59	1	0	0	0	0	1	0	0	0	2727	188	7	4	185	4	CC2D1B	1	52820329	Missense_Mutation	SNP	A	TCGA-06-0743-01A-01D-1492-08	6319700	52820329	196430292	3	3702											
PIAS3	10401	broad.mit.edu	37	1	145584562	145584562	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:145584562G>A	uc001eoc.1	+	11	1620	c.1529G>A	c.(1528-1530)aGt>aAt	p.S510N	PIAS3_uc001eod.1_Missense_Mutation_p.S179N	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	510					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			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)					TTCCTGTCCAGTCTCCCACTA	0.592													A	145584562	G	A	145584562	3	1	59	1	0	0	0	0	1	0	0	0	11877	1029	36	3	1575	3	PIAS3	1	145584562	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	92764233	145584562	103666059	4	3703											
FLG	2312	broad.mit.edu	37	1	152286200	152286200	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152286200G>T	uc001ezu.1	-	2	1198	c.1162C>A	c.(1162-1164)Cac>Aac	p.H388N	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	388	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G387D(1)|p.G387R(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)			GACTGCTGGTGGCCGGATCCA	0.577									Ichthyosis				T	152286200	G	T	152286200	3	4	59	1	0	0	0	0	1	0	0	0	5922	1348	47	5	11027	5	FLG	1	152286200	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	6701638	152286200	96964421	5	3704											
FLG2	388698	broad.mit.edu	37	1	152323312	152323312	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152323312T>G	uc001ezw.4	-	2	7023	c.6950A>C	c.(6949-6951)cAg>cCg	p.Q2317P	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2317							calcium ion binding|structural molecule activity	p.Q2317K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAACCTGTCTGTGTGGATTG	0.463													G	152323312	T	G	152323312	3	3	59	1	0	0	0	0	1	0	0	0	5923	1580	55	5	229	5	FLG2	1	152323312	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	37112	152323312	96927309	6	3705											
LCE3E	353145	broad.mit.edu	37	1	152538509	152538509	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152538509C>T	uc021oyz.1	-	0	176	c.176G>A	c.(175-177)cGc>cAc	p.R59H	LCE3E_uc001faa.3_Missense_Mutation_p.R59H	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	59					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TCGGTGGTGGCGCCTGTGGTG	0.682													T	152538509	C	T	152538509	3	4	59	1	0	0	0	0	1	0	0	0	8673	768	27	1	106	1	LCE3E	1	152538509	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	215197	152538509	96712112	7	3706											
CD5L	922	broad.mit.edu	37	1	157805716	157805716	+	Silent	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:157805716A>G	uc001frk.4	-	2	428	c.285T>C	c.(283-285)agT>agC	p.S95S		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	95	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCCTGTGCAACTGACTGATT	0.493													G	157805716	A	G	157805716	2	3	59	1	0	0	0	0	0	0	0	1	3027	40	2	4		4	CD5L	1	157805716	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	5267207	157805716	91444905	8	3707											
ZNF124	7678	broad.mit.edu	37	1	247320190	247320190	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:247320190C>T	uc001ick.3	-	3	873	c.734G>A	c.(733-735)tGt>tAt	p.C245Y	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.C183Y	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R244C(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGAACTGAGACAACTGAAAGC	0.458													T	247320190	C	T	247320190	3	4	59	1	0	0	0	0	1	0	0	0	17717	478	17	3	325	3	ZNF124	1	247320190	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	89514474	247320190	1930431	9	3708											
PGBD2	267002	broad.mit.edu	37	1	249212440	249212440	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:249212440T>A	uc001ifh.3	+	2	1804	c.1657T>A	c.(1657-1659)Tgg>Agg	p.W553R	PGBD2_uc001ifg.3_Missense_Mutation_p.W302R|PGBD2_uc009xhd.3_Missense_Mutation_p.W550R|PGBD2_uc021pmh.1_Missense_Mutation_p.W302R	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	553										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GATTGGGCACTGGATTATCCA	0.547													A	249212440	T	A	249212440	3	1	59	1	0	0	0	0	1	0	0	0	11781	1580	55	5	1663	5	PGBD2	1	249212440	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	1892250	249212440	38181	10	3709											
GALNT5	11227	broad.mit.edu	37	2	158165160	158165160	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:158165160G>A	uc002tzg.3	+	8	2857	c.2602G>A	c.(2602-2604)Gta>Ata	p.V868I	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	868	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TAAAGGAGCCGTAAGGCTGCA	0.408													A	158165160	G	A	158165160	3	1	59	1	0	0	0	0	1	0	0	0	6216	1145	40	1	2636	1	GALNT5	2	158165160	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		158165160	85034213	11	3710											
TTN	7273	broad.mit.edu	37	2	179553840	179553840	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:179553840C>T	uc021vsy.1	-	121	28528	c.28303G>A	c.(28303-28305)Gtc>Atc	p.V9435I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6096I|TTN_uc010fre.1_Missense_Mutation_p.V546I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10362	Ig-like 77.						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)			TCCTCTGGGACGGGTTTCTTA	0.428													T	179553840	C	T	179553840	3	4	59	1	0	0	0	0	1	0	0	0	16732	536	19	1	72446	1	TTN	2	179553840	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	21388680	179553840	63645533	12	3711											
CCDC108	255101	broad.mit.edu	37	2	219892442	219892442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:219892442C>T	uc002vjl.1	-	12	2225	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CCDC108_uc010fwa.1_Missense_Mutation_p.R157H|CCDC108_uc010zkp.1_Missense_Mutation_p.R703H|CCDC108_uc010zkq.1_Missense_Mutation_p.R649H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	714						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGTGCAGGCGCATGGCCAT	0.597													T	219892442	C	T	219892442	3	4	59	1	0	0	0	0	1	0	0	0	2743	768	27	1	3728	1	CCDC108	2	219892442	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	40338602	219892442	23306931	13	3712											
COL6A3	1293	broad.mit.edu	37	2	238289831	238289831	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:238289831C>T	uc002vwl.2	-	4	1909	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	COL6A3_uc002vwo.2_Missense_Mutation_p.G336S|COL6A3_uc010znj.1_Missense_Mutation_p.G135S|COL6A3_uc002vwq.3_Missense_Mutation_p.G336S|COL6A3_uc002vwr.3_Missense_Mutation_p.G135S|COL6A3_uc010znk.1_Missense_Mutation_p.G542S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	542	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A541A(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)		GCCCGGTAGCCGGCTGAACTC	0.557													T	238289831	C	T	238289831	3	4	59	1	0	0	0	0	1	0	0	0	3701	652	23	2	8116	2	COL6A3	2	238289831	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	18397389	238289831	4909542	14	3713											
PER2	8864	broad.mit.edu	37	2	239161798	239161798	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:239161798G>A	uc002vyc.3	-	18	3103	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	PER2_uc010znv.1_Missense_Mutation_p.P956S	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	956	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			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)		GGCTGTCTGGGGATCGAGGTC	0.667													A	239161798	G	A	239161798	3	1	59	1	0	0	0	0	1	0	0	0	11730	1232	43	3	921	3	PER2	2	239161798	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	871967	239161798	4037575	15	3714											
AQP12A	375318	broad.mit.edu	37	2	241631371	241631371	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:241631371C>T	uc002vzu.3	+	0	110	c.41C>T	c.(40-42)aCc>aTc	p.T14I	AQP12A_uc002vzv.3_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	14						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TTCTTTGCCACCTTCGCCCTC	0.677													T	241631371	C	T	241631371	3	4	59	1	0	0	0	0	1	0	0	0	824	507	18	3	43	3	AQP12A	2	241631371	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	2469573	241631371	1568002	16	3715											
PLCD1	5333	broad.mit.edu	37	3	38050824	38050824	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:38050824C>A	uc003chm.3	-	9	1962	c.1608G>T	c.(1606-1608)caG>caT	p.Q536H	PLCD1_uc003chn.3_Missense_Mutation_p.Q515H	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	515	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CGTAGAAGGCCTGTCCAGGGG	0.577													A	38050824	C	A	38050824	3	1	59	1	0	0	0	0	1	0	0	0	12031	680	24	5	749	5	PLCD1	3	38050824	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		38050824	159971606	17	3716											
SCN10A	6336	broad.mit.edu	37	3	38783979	38783979	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:38783979T>A	uc003ciq.3	-	12	1909	c.1909A>T	c.(1909-1911)Agc>Tgc	p.S637C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	637					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGACAAGCTGGTCAAGCAG	0.512													A	38783979	T	A	38783979	3	1	59	1	0	0	0	0	1	0	0	0	13912	1580	55	5	4021	5	SCN10A	3	38783979	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	733155	38783979	159238451	18	3717											
ITIH3	3699	broad.mit.edu	37	3	52842629	52842629	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:52842629G>A	uc003dfv.2	+	21	2641	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I	ITIH3_uc011bek.1_Missense_Mutation_p.V677I	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	869					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.V869I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCTGGTTCGTCCACAACAA	0.537													A	52842629	G	A	52842629	3	1	59	1	0	0	0	0	1	0	0	0	7905	1145	40	1	2691	1	ITIH3	3	52842629	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	14058650	52842629	145179801	19	3718											
ALG1L	200810	broad.mit.edu	37	3	125651539	125651539	+	Silent	SNP	A	A	C	rs147593769	by1000genomes	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:125651539A>C	uc021xdh.1	-	3	394	c.174T>G	c.(172-174)ctT>ctG	p.L58L	ALG1L_uc003eig.2_Silent_p.L38L	NM_001195223	NP_001182152	Q6GMV1	ALG1L_HUMAN	Homo sapiens asparagine-linked glycosylation 1-like (ALG1L), transcript variant 1, mRNA.	38							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423													C	125651539	A	C	125651539	2	2	59	1	0	0	0	0	0	0	0	1	517	349	13	5		5	ALG1L	3	125651539	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	72808910	125651539	72370891	20	3719											
NAALADL2	254827	broad.mit.edu	37	3	174951943	174951943	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:174951943C>G	uc003fit.3	+	2	855	c.768C>G	c.(766-768)agC>agG	p.S256R	NAALADL2_uc003fiu.1_Missense_Mutation_p.S249R|NAALADL2_uc010hwy.1_Missense_Mutation_p.S78R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	256					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAGATAGCAGCCAAGACCTGC	0.463													G	174951943	C	G	174951943	3	3	59	1	0	0	0	0	1	0	0	0	10130	738	26	5	778	5	NAALADL2	3	174951943	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	49300404	174951943	23070487	21	3720											
YEATS2	55689	broad.mit.edu	37	3	183470006	183470006	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:183470006C>T	uc003fly.2	+	9	1310	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	372					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATAAAGCAGTCACATGAGCCA	0.478													T	183470006	C	T	183470006	3	4	59	1	0	0	0	0	1	0	0	0	17469	838	29	3	1149	3	YEATS2	3	183470006	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	8518063	183470006	14552424	22	3721											
VPS8	23355	broad.mit.edu	37	3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:184714255C>T	uc021xik.1	+	42	3890	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_uc003fpb.1_Missense_Mutation_p.R1266C|VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1268							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTACAAGAGACGCCAAGAAAT	0.413													T	184714255	C	T	184714255	3	4	59	1	0	0	0	0	1	0	0	0	17215	536	19	1	3968	1	VPS8	3	184714255	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	1244249	184714255	13308175	23	3722											
DGKQ	1609	broad.mit.edu	37	4	956607	956607	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:956607C>T	uc003gbw.3	-	16	2062	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q	DGKQ_uc010ibn.3_Missense_Mutation_p.R650Q	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	663	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAGGCCAGTCGGTACCGTGT	0.687													T	956607	C	T	956607	3	4	59	1	0	0	0	0	1	0	0	0	4473	884	31	2	868	2	DGKQ	4	956607	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		956607	190197669	24	3723											
KLHL5	51088	broad.mit.edu	37	4	39116882	39116882	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:39116882G>A	uc003gtr.2	+	9	2426	c.2143G>A	c.(2143-2145)Ggg>Agg	p.G715R	KLHL5_uc003gtp.3_Missense_Mutation_p.G669R|KLHL5_uc003gtq.3_Missense_Mutation_p.G528R|KLHL5_uc003gts.3_Missense_Mutation_p.G715R|KLHL5_uc003gtt.3_Missense_Mutation_p.G654R	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	715						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGCTGTTGGGGGGTATGATGG	0.458													A	39116882	G	A	39116882	3	1	59	1	0	0	0	0	1	0	0	0	8392	1232	43	3	2181	3	KLHL5	4	39116882	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	38160275	39116882	152037394	25	3724											
IGJ	3512	broad.mit.edu	37	4	71527860	71527860	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:71527860C>T	uc010ihz.3	-	2	326	c.185G>A	c.(184-186)cGt>cAt	p.R62H	IGJ_uc003hfn.4_Missense_Mutation_p.R46H	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	46					immune response	extracellular region	antigen binding	p.R61Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TTCGGAAGAACGGATGATCCT	0.383													T	71527860	C	T	71527860	3	4	59	1	0	0	0	0	1	0	0	0	7592	536	19	1	354	1	IGJ	4	71527860	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	32410978	71527860	119626416	26	3725											
CXXC4	80319	broad.mit.edu	37	4	105412449	105412449	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:105412449G>A	uc003hxg.3	-	0	19	c.4C>T	c.(4-6)Cac>Tac	p.H2Y	AK094561_uc003hxh.1_Intron|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	2					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTTCGGTGGTGCATGCTGGTC	0.687													A	105412449	G	A	105412449	3	1	59	1	0	0	0	0	1	0	0	0	4098	1319	46	3	600	3	CXXC4	4	105412449	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	33884589	105412449	85741827	27	3726											
CDH18	1016	broad.mit.edu	37	5	19747216	19747216	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:19747216G>T	uc003jgd.3	-	3	892	c.358C>A	c.(358-360)Cag>Aag	p.Q120K	CDH18_uc011cnm.2_Missense_Mutation_p.Q120K|CDH18_uc003jgc.3_Missense_Mutation_p.Q120K|CDH18_uc021xwu.1_Missense_Mutation_p.Q120K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	120	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGGTCTTCTGCTCTCTGTCT	0.433													T	19747216	G	T	19747216	3	4	59	1	0	0	0	0	1	0	0	0	3103	1328	46	5	2054	5	CDH18	5	19747216	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		19747216	161168044	28	3727											
PRDM9	56979	broad.mit.edu	37	5	23523414	23523414	+	Silent	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:23523414A>G	uc003jgo.3	+	8	1079	c.897A>G	c.(895-897)agA>agG	p.R299R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	299	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						CCAAGGGGAGAAACTGCTATG	0.428										HNSCC(3;0.000094)			G	23523414	A	G	23523414	2	3	59	1	0	0	0	0	0	0	0	1	12463	243	9	4		4	PRDM9	5	23523414	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	3776198	23523414	157391846	29	3728											
ADAMTS12	81792	broad.mit.edu	37	5	33615934	33615934	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:33615934T>C	uc003jia.1	-	15	2551	c.2388_splice	c.e15+1	p.Q796_splice	ADAMTS12_uc010iuq.1_Splice_Site_p.Q711_splice	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	796	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						CTGCATTACCTGGATCCACAC	0.473										HNSCC(64;0.19)			C	33615934	T	C	33615934	3	2	59	1	0	0	0	0	1	0	0	0	257	1594	55	4	2437	4	ADAMTS12	5	33615934	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	10092520	33615934	147299326	30	3729											
MAP3K1	4214	broad.mit.edu	37	5	56168509	56168509	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:56168509C>T	uc003jqw.4	+	7	1966	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	489					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.Y488Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTTAATATGTCCCCTTTGTAG	0.279													T	56168509	C	T	56168509	3	4	59	1	0	0	0	0	1	0	0	0	9243	855	30	3	1495	3	MAP3K1	5	56168509	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	22552575	56168509	124746751	31	3730											
NAIP	4671	broad.mit.edu	37	5	70308329	70308329	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:70308329G>A	uc003kar.1	-	3	1132	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.Y138Y|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	138					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	p.Y138Y(2)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCCTTATGTCGTACTTGGCAA	0.483													A	70308329	G	A	70308329	2	1	59	1	0	0	0	0	0	0	0	1	10147	1140	40	1		1	NAIP	5	70308329	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	14139820	70308329	110606931	32	3731											
FAM81B	153643	broad.mit.edu	37	5	94749771	94749771	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:94749771C>T	uc003kla.1	+	3	460	c.414C>T	c.(412-414)gaC>gaT	p.D138D	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	138										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCAAGGAGGACATCTCTGCTT	0.522													T	94749771	C	T	94749771	2	4	59	1	0	0	0	0	0	0	0	1	5629	477	17	3		3	FAM81B	5	94749771	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	24441442	94749771	86165489	33	3732											
PCDHAC2	56141	broad.mit.edu	37	5	140215715	140215715	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:140215715C>T	uc003lhq.2	+	0	1747	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.R583W	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	596					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGTGCCGCGGTCTGTGGG	0.657													T	140215715	C	T	140215715	3	4	59	1	0	0	0	0	1	0	0	0	11533	759	27	1		1	PCDHAC2	5	140215715	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	45465944	140215715	40699545	34	3733											
NMUR2	56923	broad.mit.edu	37	5	151784353	151784353	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:151784353G>A	uc003luv.2	-	0	488	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGGTAGTTGCGCCACATCTCA	0.587													A	151784353	G	A	151784353	3	1	59	1	0	0	0	0	1	0	0	0	10507	1087	38	1	941	1	NMUR2	5	151784353	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	11568638	151784353	29130907	35	3734											
TIMD4	91937	broad.mit.edu	37	5	156349123	156349123	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:156349123C>T	uc003lwh.2	-	6	1056	c.999G>A	c.(997-999)gcG>gcA	p.A333A	TIMD4_uc010jii.2_Silent_p.A305A|TIMD4_uc003lwg.2_Silent_p.A35A	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	333						integral to membrane		p.A333A(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGGAGAAACGCCACAAACA	0.517													T	156349123	C	T	156349123	2	4	59	1	0	0	0	0	0	0	0	1	15900	523	19	1		1	TIMD4	5	156349123	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	4564770	156349123	24566137	36	3735											
MYLIP	29116	broad.mit.edu	37	6	16143302	16143302	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:16143302A>C	uc003nbq.3	+	3	753	c.516A>C	c.(514-516)gaA>gaC	p.E172D	MYLIP_uc003nbr.3_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	172	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTTCAGCTGAATACCAAGTTT	0.463													C	16143302	A	C	16143302	3	2	59	1	0	0	0	0	1	0	0	0	10055	98	4	5	530	5	MYLIP	6	16143302	Missense_Mutation	SNP	A	TCGA-06-0743-01A-01D-1492-08		16143302	154971765	37	3736											
SLC22A7	10864	broad.mit.edu	37	6	43267438	43267438	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:43267438G>A	uc021yzt.1	+	3	676	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	SLC22A7_uc010jyl.1_Missense_Mutation_p.V191I|SLC22A7_uc003ous.3_Missense_Mutation_p.V191I|SLC22A7_uc003out.3_Missense_Mutation_p.V191I	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	193						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGCAGCCTCCGTCAGCTATGT	0.587													A	43267438	G	A	43267438	3	1	59	1	0	0	0	0	1	0	0	0	14459	1145	40	1	587	1	SLC22A7	6	43267438	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	27124136	43267438	127847629	38	3737											
AARS2	57505	broad.mit.edu	37	6	44270876	44270876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:44270876delC	uc010jza.1	-	15	2185	c.2182delG	c.(2182-2184)gtgfs	p.V728fs	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	728					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GCCACGGGCACCCCCACTGAT	0.602													-	44270876	C	-	44270876	7	5	59	1	0	1	0	1	0	0	0	0	20	507	18	0	803	0	AARS2	6	44270876	Frame_Shift_Del	DEL	C	TCGA-06-0743-01A-01D-1492-08	1003438	44270876	126844191	39	3738											
MEP1A	4224	broad.mit.edu	37	6	46806843	46806843	+	Silent	SNP	C	C	T	rs139598232	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:46806843C>T	uc011dwh.1	+	12	2303	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	MEP1A_uc010jzh.1_Silent_p.I737I|MEP1A_uc011dwg.1_Silent_p.I459I|MEP1A_uc011dwi.1_Silent_p.I637I	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	737					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCTCCATCATCGCCATCCTTT	0.602													T	46806843	C	T	46806843	2	4	59	1	0	0	0	0	0	0	0	1	9475	874	31	2		2	MEP1A	6	46806843	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	2535967	46806843	124308224	40	3739											
C6orf221	154288	broad.mit.edu	37	6	74073290	74073290	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:74073290G>A	uc003pgt.4	+	2	414	c.361G>A	c.(361-363)Gcc>Acc	p.A121T		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	121										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CTCAGGAAAGGCCCTCGCCCA	0.617													A	74073290	G	A	74073290	3	1	59	1	0	0	0	0	1	0	0	0	2355	1203	42	3	371	3	C6orf221	6	74073290	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	27266447	74073290	97041777	41	3740											
MACC1	346389	broad.mit.edu	37	7	20198221	20198221	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:20198221G>A	uc003sus.4	-	4	2072	c.1763C>T	c.(1762-1764)gCt>gTt	p.A588V	MACC1_uc010kug.3_Missense_Mutation_p.A588V	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	588	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGACCAATAGCTTTTACCTT	0.418													A	20198221	G	A	20198221	3	1	59	1	0	0	0	0	1	0	0	0	9143	971	34	3	807	3	MACC1	7	20198221	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		20198221	138940442	42	3741											
EGFR	1956	broad.mit.edu	37	7	55214352	55214352	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:55214352G>A	uc003tqk.3	+	3	724	c.478G>A	c.(478-480)Gag>Aag	p.E160K	EGFR_uc003tqh.3_Missense_Mutation_p.E160K|EGFR_uc003tqi.3_Missense_Mutation_p.E160K|EGFR_uc003tqj.3_Missense_Mutation_p.E160K|EGFR_uc022adm.1_Missense_Mutation_p.E160K|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Missense_Mutation_p.E107K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	160					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCAACGTGGAGAGCATCCA	0.552		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55214352	G	A	55214352	3	1	59	1	0	0	0	0	1	0	0	0	4967	1175	41	3	492	3	EGFR	7	55214352	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	35016131	55214352	103924311	43	3742											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	59	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	7470	55221822	103916841	44	3743											
COL1A2	1278	broad.mit.edu	37	7	94056341	94056341	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:94056341G>C	uc003ung.1	+	46	3598	c.3127G>C	c.(3127-3129)Gct>Cct	p.A1043P	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1043					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGATCAAGGTGCTCCTGGCTC	0.458										HNSCC(75;0.22)			C	94056341	G	C	94056341	3	2	59	1	0	0	0	0	1	0	0	0	3678	1319	46	5	3313	5	COL1A2	7	94056341	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	38834519	94056341	65082322	45	3744											
NPTX2	4885	broad.mit.edu	37	7	98254262	98254262	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:98254262G>A	uc003upl.2	+	2	849	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	224					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CACCAGATGCGTTCAAGGTGT	0.602													A	98254262	G	A	98254262	2	1	59	1	0	0	0	0	0	0	0	1	10603	1132	40	1		1	NPTX2	7	98254262	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	4197921	98254262	60884401	46	3745											
TRRAP	8295	broad.mit.edu	37	7	98528341	98528341	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:98528341G>T	uc003upp.3	+	24	3688	c.3479G>T	c.(3478-3480)gGt>gTt	p.G1160V	TRRAP_uc011kis.2_Missense_Mutation_p.G1160V|TRRAP_uc003upr.3_Missense_Mutation_p.G852V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1160					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCTGGGGGGTGTGGTGTCT	0.517													T	98528341	G	T	98528341	3	4	59	1	0	0	0	0	1	0	0	0	16598	1261	44	5	3573	5	TRRAP	7	98528341	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	274079	98528341	60610322	47	3746											
IFRD1	3475	broad.mit.edu	37	7	112112859	112112859	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:112112859C>T	uc003vgh.3	+	11	1679	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	IFRD1_uc011kmn.2_Silent_p.P353P|IFRD1_uc003vgj.3_Silent_p.P403P|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Silent_p.P353P|IFRD1_uc003vgk.3_Silent_p.P120P	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	403				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).	multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AACTTGGACCCCCAGTGATGC	0.353													T	112112859	C	T	112112859	2	4	59	1	0	0	0	0	0	0	0	1	7553	610	22	3		3	IFRD1	7	112112859	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	13584518	112112859	47025804	48	3747											
GIMAP6	474344	broad.mit.edu	37	7	150324938	150324938	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:150324938C>T	uc022apv.1	-	2	1438	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	GIMAP6_uc003whn.3_Missense_Mutation_p.E250K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	250							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTTGCCTTTCCTGTAGTTCT	0.493													T	150324938	C	T	150324938	3	4	59	1	0	0	0	0	1	0	0	0	6383	864	30	3	134	3	GIMAP6	7	150324938	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	38212079	150324938	8813725	49	3748											
ABP1	26	broad.mit.edu	37	7	150558161	150558161	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:150558161C>T	uc003why.1	+	5	6338	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	ABP1_uc003whz.1_Missense_Mutation_p.S707F|ABP1_uc003wia.1_Missense_Mutation_p.S726F	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	707					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GAGGACCCCTCCCTGGCATCC	0.622													T	150558161	C	T	150558161	3	4	59	1	0	0	0	0	1	0	0	0	98	855	30	3	2134	3	ABP1	7	150558161	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	233223	150558161	8580502	50	3749											
ZMAT4	79698	broad.mit.edu	37	8	40554861	40554861	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:40554861G>T	uc003xnr.3	-	3	398	c.252C>A	c.(250-252)ttC>ttA	p.F84L	ZMAT4_uc003xns.3_Missense_Mutation_p.F84L	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	84						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCGCTGAAGTGAATGACATGT	0.498													T	40554861	G	T	40554861	3	4	59	1	0	0	0	0	1	0	0	0	17691	1281	45	5	453	5	ZMAT4	8	40554861	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		40554861	105809161	51	3750											
MCM4	4173	broad.mit.edu	37	8	48874694	48874694	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:48874694G>C	uc003xqk.2	+	3	1143	c.317G>C	c.(316-318)gGt>gCt	p.G106A	PRKDC_uc003xqi.3_5'Flank|PRKDC_uc003xqj.3_5'Flank|MCM4_uc003xql.2_Missense_Mutation_p.G106A|MCM4_uc011ldi.2_Missense_Mutation_p.G93A|MCM4_uc010lxw.2_Intron	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	106					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCAAGAAGTGGTGTTAGGGGC	0.527													C	48874694	G	C	48874694	3	2	59	1	0	0	0	0	1	0	0	0	9389	1261	44	5	327	5	MCM4	8	48874694	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	8319833	48874694	97489328	52	3751											
RPL7	6129	broad.mit.edu	37	8	74205020	74205022	+	In_Frame_Del	DEL	CTT	CTT	-	rs151181576		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:74205020_74205022delCTT	uc003xzg.3	-	1	47_49	c.25_27delAAG	c.(25-27)aagdel	p.K9del	RDH10_uc003xzi.3_5'Flank	NM_000971	NP_000962	P18124	RL7_HUMAN	Homo sapiens ribosomal protein L7 (RPL7), mRNA.	9	4 X 12 AA tandem repeats.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAGGAACCTCCTTCTTCTTCTCT	0.414													-	74205022	CTT	-	74205020	7	5	59	1	0	1	0	1	0	0	0	0	13599	680	24	0	739	0	RPL7	8	74205020	In_Frame_Del	DEL	CTT	TCGA-06-0743-01A-01D-1492-08	25330326	74205020	72159002	53	3752											
VPS13B	157680	broad.mit.edu	37	8	100568723	100568723	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:100568723C>T	uc003yiv.3	+	30	4977	c.4866C>T	c.(4864-4866)atC>atT	p.I1622I	VPS13B_uc003yiw.3_Silent_p.I1597I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1622					protein transport					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)			GATCAGAAATCGAAGACAGAC	0.398													T	100568723	C	T	100568723	2	4	59	1	0	0	0	0	0	0	0	1	17187	874	31	2		2	VPS13B	8	100568723	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	26363703	100568723	45795299	54	3753											
CSMD3	114788	broad.mit.edu	37	8	113702122	113702122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:113702122C>T	uc003ynu.3	-	13	2289	c.2130G>A	c.(2128-2130)tgG>tgA	p.W710*	CSMD3_uc003yns.3_5'UTR|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W670*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W606*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	710	Sushi 3.					integral to membrane|plasma membrane				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						TGTTTGCAGACCATTGGTTAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113702122	C	T	113702122	4	4	59	1	0	0	0	0	0	1	0	0	3946	508	18	3	9225	3	CSMD3	8	113702122	Nonsense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	13133399	113702122	32661900	55	3754											
DENND4C	55667	broad.mit.edu	37	9	19360386	19360386	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr9:19360386A>G	uc003znq.3	+	23	4530	c.4450A>G	c.(4450-4452)Atc>Gtc	p.I1484V	DENND4C_uc011lnc.2_Missense_Mutation_p.I814V|DENND4C_uc011lnd.2_Missense_Mutation_p.I772V|DENND4C_uc003znr.3_Missense_Mutation_p.I772V|DENND4C_uc003zns.3_Missense_Mutation_p.I666V	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1484						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						TCAACATCCAATCATTTTCTG	0.388													G	19360386	A	G	19360386	3	3	59	1	0	0	0	0	1	0	0	0	4435	101	4	4	4544	4	DENND4C	9	19360386	Missense_Mutation	SNP	A	TCGA-06-0743-01A-01D-1492-08		19360386	121853045	56	3755											
C9orf84	158401	broad.mit.edu	37	9	114462255	114462255	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr9:114462255G>A	uc004bfr.3	-	21	3105	c.2970C>T	c.(2968-2970)aaC>aaT	p.N990N	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.N951N|C9orf84_uc010mug.3_Silent_p.N901N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	990										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTCTTCAGAGTTTAGCCCAA	0.313													A	114462255	G	A	114462255	2	1	59	1	0	0	0	0	0	0	0	1	2500	1020	36	3		3	C9orf84	9	114462255	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	95101869	114462255	26751176	57	3756											
LRIT1	26103	broad.mit.edu	37	10	85992166	85992166	+	Silent	SNP	G	G	A	rs142074653	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:85992166G>A	uc001kcz.1	-	3	1411	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	463	Fibronectin type-III.					integral to endoplasmic reticulum membrane		p.Y463Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CAAAGACCGCGTAGAGGACAC	0.582													A	85992166	G	A	85992166	2	1	59	1	0	0	0	0	0	0	0	1	8947	1140	40	1		1	LRIT1	10	85992166	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		85992166	49542581	58	3757											
PTEN	5728	broad.mit.edu	37	10	89692785	89692785	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:89692785T>C	uc001kfb.3	+	4	1301	c.269T>C	c.(268-270)tTt>tCt	p.F90S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	90	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.F90fs*9(4)|p.Y27fs*1(2)|p.F90S(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.F90L(1)|p.F90_P95>L(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAATATCCTTTTGAAGACCAT	0.338		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692785	T	C	89692785	3	2	59	1	0	0	0	0	1	0	0	0	12738	1841	64	4	287	4	PTEN	10	89692785	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	3700619	89692785	45841962	59	3758											
PTEN	5728	broad.mit.edu	37	10	89720847	89720847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:89720847delC	uc001kfb.3	+	7	2030	c.998delC	c.(997-999)gccfs	p.A333fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	333	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGACAAAGCCAACCGATAC	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720847	C	-	89720847	7	5	59	1	0	1	0	1	0	0	0	0	12738	739	26	0	1028	0	PTEN	10	89720847	Frame_Shift_Del	DEL	C	TCGA-06-0743-01A-01D-1492-08	28062	89720847	45813900	60	3759											
SORCS1	114815	broad.mit.edu	37	10	108923743	108923743	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:108923743G>C	uc001kyl.3	-	0	724	c.542C>G	c.(541-543)tCt>tGt	p.S181C	SORCS1_uc021pxw.1_Missense_Mutation_p.S181C|SORCS1_uc009xxs.3_Missense_Mutation_p.S181C|SORCS1_uc001kym.3_Missense_Mutation_p.S181C|SORCS1_uc001kyn.2_Missense_Mutation_p.S181C|SORCS1_uc001kyo.3_Missense_Mutation_p.S181C	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	181						integral to membrane	neuropeptide receptor activity|protein binding			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)		GTTGTGGCCAGACCAGTGGAC	0.562													C	108923743	G	C	108923743	3	2	59	1	0	0	0	0	1	0	0	0	14930	942	33	5	3302	5	SORCS1	10	108923743	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	19202896	108923743	26611004	61	3760											
SMC3	9126	broad.mit.edu	37	10	112344031	112344031	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:112344031G>T	uc001kze.3	+	12	1308	c.1182G>T	c.(1180-1182)tgG>tgT	p.W394C		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	394					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGGATAAGTGGATTAAAAAGG	0.383													T	112344031	G	T	112344031	3	4	59	1	0	0	0	0	1	0	0	0	14784	1183	41	5	1232	5	SMC3	10	112344031	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	3420288	112344031	23190716	62	3761											
DMBT1	1755	broad.mit.edu	37	10	124399762	124399762	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:124399762C>T	uc001lgk.1	+	51	6868	c.6762C>T	c.(6760-6762)gaC>gaT	p.D2254D	DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc021qaf.1_Silent_p.D2254D|DMBT1_uc021qag.1_Silent_p.D2244D|DMBT1_uc021qah.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2254	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAATTTTGACGTGAACATTT	0.463													T	124399762	C	T	124399762	2	4	59	1	0	0	0	0	0	0	0	1	4577	535	19	1		1	DMBT1	10	124399762	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	12055731	124399762	11134985	63	3762											
MUC5B	727897	broad.mit.edu	37	11	1267425	1267425	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1267425C>T	uc001lta.3	+	30	9374	c.9315C>T	c.(9313-9315)acC>acT	p.T3105T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3105	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCCACACCTCCACAGTGC	0.637													T	1267425	C	T	1267425	2	4	59	1	0	0	0	0	0	0	0	1	9979	668	24	3		3	MUC5B	11	1267425	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08		1267425	133739091	64	3763											
MUC5B	727897	broad.mit.edu	37	11	1267929	1267929	+	Silent	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1267929T>C	uc001lta.3	+	30	9878	c.9819T>C	c.(9817-9819)acT>acC	p.T3273T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3273	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAGAGACTGTCCACACCT	0.642													C	1267929	T	C	1267929	2	2	59	1	0	0	0	0	0	0	0	1	9979	1567	55	4		4	MUC5B	11	1267929	Silent	SNP	T	TCGA-06-0743-01A-01D-1492-08	504	1267929	133738587	65	3764											
MUC5B	727897	broad.mit.edu	37	11	1271196	1271196	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1271196C>T	uc001lta.3	+	30	13145	c.13086C>T	c.(13084-13086)acC>acT	p.T4362T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4362	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCCACACCTCCACAGTGC	0.652													T	1271196	C	T	1271196	2	4	59	1	0	0	0	0	0	0	0	1	9979	668	24	3		3	MUC5B	11	1271196	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	3267	1271196	133735320	66	3765											
PAMR1	25891	broad.mit.edu	37	11	35454286	35454286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:35454286G>A	uc001mwf.3	-	11	1875	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	PAMR1_uc001mwg.3_Missense_Mutation_p.S594F|PAMR1_uc010rew.2_Missense_Mutation_p.S483F|PAMR1_uc010rex.2_Missense_Mutation_p.S554F	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	594	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGTGATGTGGGACTCCTGGAA	0.607													A	35454286	G	A	35454286	3	1	59	1	0	0	0	0	1	0	0	0	11413	1174	41	3	385	3	PAMR1	11	35454286	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	34183090	35454286	99552230	67	3766											
LRP4	4038	broad.mit.edu	37	11	46880763	46880763	+	Missense_Mutation	SNP	C	C	T	rs146864522		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:46880763C>T	uc001ndn.4	-	37	5732	c.5489G>A	c.(5488-5490)cGa>cAa	p.R1830Q	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Missense_Mutation_p.R72Q	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1830					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			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)		CCGTGAGCTTCGCAGTTGCTT	0.572													T	46880763	C	T	46880763	3	4	59	1	0	0	0	0	1	0	0	0	8959	884	31	2	232	2	LRP4	11	46880763	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	11426477	46880763	88125753	68	3767											
UNC93B1	81622	broad.mit.edu	37	11	67765211	67765211	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:67765211C>T	uc001omw.1	-	6	920	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	280					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TTCCGCTCCGCGGGAGCGTCC	0.647													T	67765211	C	T	67765211	2	4	59	1	0	0	0	0	0	0	0	1	16994	755	27	1		1	UNC93B1	11	67765211	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	20884448	67765211	67241305	69	3768											
CNTN5	53942	broad.mit.edu	37	11	100126601	100126601	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:100126601C>A	uc001pga.3	+	16	2619	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K	CNTN5_uc001pfz.3_Missense_Mutation_p.N705K|CNTN5_uc021qpb.1_Missense_Mutation_p.N705K|CNTN5_uc021qpc.1_Missense_Mutation_p.N631K|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	705	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTCCTACAACCTTCAAGCTC	0.507													A	100126601	C	A	100126601	3	1	59	1	0	0	0	0	1	0	0	0	3644	506	18	5	2173	5	CNTN5	11	100126601	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	32361390	100126601	34879915	70	3769											
CACNA2D4	93589	broad.mit.edu	37	12	1992139	1992139	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:1992139G>A	uc021qsx.1	-	12	1610	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A348V	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	460	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			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)		CTGGGTGTCCGCCAGCGTTGA	0.632													A	1992139	G	A	1992139	3	1	59	1	0	0	0	0	1	0	0	0	2551	1087	38	1	2138	1	CACNA2D4	12	1992139	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		1992139	131859756	71	3770											
PTPRO	5800	broad.mit.edu	37	12	15654855	15654855	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:15654855C>T	uc001rcv.2	+	4	1433	c.963C>T	c.(961-963)taC>taT	p.Y321Y	PTPRO_uc001rcw.2_Silent_p.Y321Y|PTPRO_uc001rcu.2_Silent_p.Y321Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	321						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCATGGAATACGAAAATAACA	0.448													T	15654855	C	T	15654855	2	4	59	1	0	0	0	0	0	0	0	1	12809	547	19	1		1	PTPRO	12	15654855	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	13662716	15654855	118197040	72	3771											
MLL2	8085	broad.mit.edu	37	12	49416373	49416373	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49416373C>G	uc001rta.4	-	51	16338	c.16338_splice	c.e51+1	p.Q5446_splice		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5446	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGCTCATACCTGCTCTTCGT	0.542			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			G	49416373	C	G	49416373	3	3	59	1	0	0	0	0	1	0	0	0	9621	695	24	5	291	5	MLL2	12	49416373	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	33761518	49416373	84435522	73	3772											
MLL2	8085	broad.mit.edu	37	12	49432216	49432216	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49432216G>A	uc001rta.4	-	33	8923	c.8923C>T	c.(8923-8925)Cgc>Tgc	p.R2975C		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2975	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGATTGGGGCGGCCAAGCTCA	0.577			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	49432216	G	A	49432216	3	1	59	1	0	0	0	0	1	0	0	0	9621	1116	39	2	7774	2	MLL2	12	49432216	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	15843	49432216	84419679	74	3773											
KCNH3	23416	broad.mit.edu	37	12	49935518	49935518	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49935518G>A	uc001ruh.1	+	2	676	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	KCNH3_uc010smj.1_Missense_Mutation_p.R79Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	139	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCAAGAACCGAGGGGGCCCC	0.592													A	49935518	G	A	49935518	3	1	59	1	0	0	0	0	1	0	0	0	8033	1058	37	2	426	2	KCNH3	12	49935518	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	503302	49935518	83916377	75	3774											
CRADD	8738	broad.mit.edu	37	12	94243772	94243772	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:94243772C>A	uc001tda.3	+	2	429	c.325C>A	c.(325-327)Cac>Aac	p.H109N	CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	NM_003805	NP_003796	P78560	CRADD_HUMAN	Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA.	109					apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GATCCCCTCGCACATCCTCAA	0.562													A	94243772	C	A	94243772	3	1	59	1	0	0	0	0	1	0	0	0	3845	710	25	5	331	5	CRADD	12	94243772	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	44308254	94243772	39608123	76	3775											
CUX2	23316	broad.mit.edu	37	12	111748245	111748245	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:111748245G>A	uc001tsa.2	+	14	1813	c.1659G>A	c.(1657-1659)ctG>ctA	p.L553L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	553						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGAGCAGCTGGACACGGCAG	0.701													A	111748245	G	A	111748245	2	1	59	1	0	0	0	0	0	0	0	1	4065	1335	47	3		3	CUX2	12	111748245	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	17504473	111748245	22103650	77	3776											
GPR133	283383	broad.mit.edu	37	12	131487822	131487822	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:131487822C>T	uc010tbm.2	+	10	1774	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	GPR133_uc001uit.4_Silent_p.T373T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	373					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G404W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGTCACCGTGGAGGGCT	0.612													T	131487822	C	T	131487822	2	4	59	1	0	0	0	0	0	0	0	1	6643	639	23	2		2	GPR133	12	131487822	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	19739577	131487822	2364073	78	3777											
TPTE2	93492	broad.mit.edu	37	13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:20039688G>A	uc001umd.3	-	8	740	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	177						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													A	20039688	G	A	20039688	4	1	59	1	0	0	0	0	0	1	0	0	16428	1066	37	2	1091	2	TPTE2	13	20039688	Nonsense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		20039688	95130190	79	3778											
SPERT	220082	broad.mit.edu	37	13	46287387	46287387	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:46287387C>T	uc001van.1	+	2	307	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SPERT_uc001vao.2_Missense_Mutation_p.A40V	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	76						cytoplasmic membrane-bounded vesicle		p.A76T(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)		CAGCAGGCCGCCCTGCCCCGG	0.662													T	46287387	C	T	46287387	3	4	59	1	0	0	0	0	1	0	0	0	15038	739	26	3	237	3	SPERT	13	46287387	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	26247699	46287387	68882491	80	3779											
STRN3	29966	broad.mit.edu	37	14	31425409	31425409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr14:31425409C>A	uc001wqu.2	-	1	538	c.322G>T	c.(322-324)Gag>Tag	p.E108*	STRN3_uc001wqv.2_Nonsense_Mutation_p.E108*|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	108					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.Q107E(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)		TTCAGGTTCTCTTGACCTTTT	0.328													A	31425409	C	A	31425409	4	1	59	1	0	0	0	0	0	1	0	0	15329	922	32	5	2139	5	STRN3	14	31425409	Nonsense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		31425409	75924131	81	3780											
MAX	4149	broad.mit.edu	37	14	65543330	65543330	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr14:65543330G>A	uc001xif.1	-	4	517	c.347C>T	c.(346-348)cCc>cTc	p.P116L	MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc001xig.1_Missense_Mutation_p.P107L|MAX_uc001xih.1_Non-coding_Transcript	NM_002382	NP_002373	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.	116					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTCTGAGGAGGGGTAGTTGGT	0.587													A	65543330	G	A	65543330	3	1	59	1	0	0	0	0	1	0	0	0	9339	1232	43	3	224	3	MAX	14	65543330	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	34117921	65543330	41806210	82	3781											
PIF1	80119	broad.mit.edu	37	15	65114493	65114493	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr15:65114493G>A	uc002ant.2	-	3	855	c.789C>T	c.(787-789)atC>atT	p.I263I	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.I263I|PIF1_uc002anu.3_3'UTR	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	263	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TGGTGCCCCCGATGTGGCAGG	0.612													A	65114493	G	A	65114493	2	1	59	1	0	0	0	0	0	0	0	1	11883	1048	37	2		2	PIF1	15	65114493	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		65114493	37416899	83	3782											
PPL	5493	broad.mit.edu	37	16	4937215	4937215	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:4937215G>A	uc002cyd.1	-	20	2618	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	843					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.A843V(2)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAACTTGGCGGCAAGTGCTGC	0.483													A	4937215	G	A	4937215	3	1	59	1	0	0	0	0	1	0	0	0	12334	1203	42	3	2750	3	PPL	16	4937215	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		4937215	85417538	84	3783											
GLG1	2734	broad.mit.edu	37	16	74542799	74542799	+	Missense_Mutation	SNP	G	G	C	rs142819854		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:74542799G>C	uc002fcx.3	-	2	546	c.496C>G	c.(496-498)Cta>Gta	p.L166V	GLG1_uc002fcw.4_Missense_Mutation_p.L155V|GLG1_uc002fcy.4_Missense_Mutation_p.L166V|GLG1_uc002fcz.4_5'UTR	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	166						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTGTAGTTAGGTTCAGCTTA	0.328													C	74542799	G	C	74542799	3	2	59	1	0	0	0	0	1	0	0	0	6436	991	35	5	3219	5	GLG1	16	74542799	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	69605584	74542799	15811954	85	3784											
CBFA2T3	863	broad.mit.edu	37	16	88945844	88945844	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:88945844C>T	uc002fmm.2	-	10	1785	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	CBFA2T3_uc002fml.2_Missense_Mutation_p.R413Q|CBFA2T3_uc002fmk.2_5'UTR	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	499	Mediates interaction with PRKAR2A.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CATGGCCTGCCGCTTCACCTC	0.647			T	RUNX1	AML								T	88945844	C	T	88945844	3	4	59	1	0	0	0	0	1	0	0	0	2698	652	23	2	473	2	CBFA2T3	16	88945844	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	14403045	88945844	1408909	86	3785											
P2RX5	5026	broad.mit.edu	37	17	3582918	3582918	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:3582918C>T	uc002fwi.3	-	10	1624	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.G349R|P2RX5_uc002fwk.3_Missense_Mutation_p.G408R|P2RX5_uc002fwj.3_Missense_Mutation_p.G384R|P2RX5_uc002fwl.3_Missense_Mutation_p.G385R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	409					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CACACAGATCCGTTCCCCTTC	0.672													T	3582918	C	T	3582918	3	4	59	1	0	0	0	0	1	0	0	0	11343	661	23	2	51	2	P2RX5	17	3582918	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		3582918	77612292	87	3786											
RABEP1	9135	broad.mit.edu	37	17	5238607	5238607	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:5238607G>A	uc002gbm.4	+	3	720	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RABEP1_uc010clc.1_Missense_Mutation_p.E166K|RABEP1_uc010cld.1_Missense_Mutation_p.E123K|RABEP1_uc010vsw.1_Missense_Mutation_p.E123K|RABEP1_uc002gbl.4_Missense_Mutation_p.E166K|RABEP1_uc002gbj.3_Missense_Mutation_p.E166K|RABEP1_uc002gbk.2_Missense_Mutation_p.E166K	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	166					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGAAGGTCAAGAGGAGGAAAA	0.383													A	5238607	G	A	5238607	3	1	59	1	0	0	0	0	1	0	0	0	12961	943	33	3	510	3	RABEP1	17	5238607	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	1655689	5238607	75956603	88	3787											
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	59	1	0	0	0	0	1	0	0	0	16378	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	2339787	7578394	73616816	89	3788											
PEX12	5193	broad.mit.edu	37	17	33904306	33904306	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:33904306G>C	uc002hjp.3	-	1	1047	c.431C>G	c.(430-432)tCt>tGt	p.S144C		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	144					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.S144C(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGATGAATAGAATATTCATC	0.453													C	33904306	G	C	33904306	3	2	59	1	0	0	0	0	1	0	0	0	11740	942	33	5	656	5	PEX12	17	33904306	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	26325912	33904306	47290904	90	3789											
KRT38	8687	broad.mit.edu	37	17	39593757	39593757	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:39593757G>A	uc002hwq.1	-	6	1701	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	426	Tail.					intermediate filament	structural molecule activity			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)				GGGCAGTCACGCAGGAGGGAG	0.617													A	39593757	G	A	39593757	2	1	59	1	0	0	0	0	0	0	0	1	8475	1079	38	1		1	KRT38	17	39593757	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	5689451	39593757	41601453	91	3790											
CCBE1	147372	broad.mit.edu	37	18	57106776	57106776	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:57106776T>G	uc002lib.3	-	9	1021	c.951_splice	c.e9+1	p.K317_splice	CCBE1_uc010dpq.3_Splice_Site_p.K46_splice|CCBE1_uc002lia.3_Splice_Site_p.K170_splice	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	317	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AAGGCTTACCTTAGAACCATC	0.423													G	57106776	T	G	57106776	3	3	59	1	0	0	0	0	1	0	0	0	2731	1623	56	5	282	5	CCBE1	18	57106776	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08		57106776	20970472	92	3791											
ADNP2	22850	broad.mit.edu	37	18	77896514	77896514	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:77896514T>C	uc002lnw.3	+	3	3673	c.3218T>C	c.(3217-3219)aTa>aCa	p.I1073T		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1073					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			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)		AAAAAGGAAATAGAACTGTTG	0.313													C	77896514	T	C	77896514	3	2	59	1	0	0	0	0	1	0	0	0	324	1406	49	4	3228	4	ADNP2	18	77896514	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	20789738	77896514	180734	93	3792			1	9		2	2	21	T		7.558656e-05
ADNP2	22850	broad.mit.edu	37	18	77896534	77896534	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:77896534T>C	uc002lnw.3	+	3	3693	c.3238T>C	c.(3238-3240)Ttt>Ctt	p.F1080L		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1080					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			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)		GTCCTCACTCTTTTGGGTGTG	0.328													C	77896534	T	C	77896534	3	2	59	1	0	0	0	0	1	0	0	0	324	1609	56	4	3248	4	ADNP2	18	77896534	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	20	77896534	180714	94	3793			1	9		2	2	21	T		7.558656e-05
GCDH	2639	broad.mit.edu	37	19	13008135	13008135	+	Silent	SNP	A	A	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:13008135A>T	uc002mvq.3	+	9	1052	c.975A>T	c.(973-975)ccA>ccT	p.P325P	GCDH_uc010xms.2_Silent_p.P292P|GCDH_uc002mvp.3_Silent_p.P325P|GCDH_uc010xmt.2_Silent_p.P159P|GCDH_uc010xmu.2_Silent_p.P281P	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	325					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						TTGGTGTCCCACTGGCCAGGA	0.627													T	13008135	A	T	13008135	2	4	59	1	0	0	0	0	0	0	0	1	6287	146	6	5		5	GCDH	19	13008135	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08		13008135	46120848	95	3794											
OR10H1	26539	broad.mit.edu	37	19	15917903	15917903	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:15917903delA	uc002nbq.2	-	0	1034	c.945delT	c.(943-945)aatfs	p.N315fs		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACATCATTACATTTTTTTCTG	0.438													-	15917903	A	-	15917903	7	5	59	1	0	1	0	1	0	0	0	0	10905	214	8	0	15	0	OR10H1	19	15917903	Frame_Shift_Del	DEL	A	TCGA-06-0743-01A-01D-1492-08	2909768	15917903	43211080	96	3795											
PDE4C	5143	broad.mit.edu	37	19	18327614	18327614	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:18327614G>A	uc010xqc.2	-	11	1902	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	PDE4C_uc002nik.4_Silent_p.C474C|PDE4C_uc002nil.4_Silent_p.C474C|PDE4C_uc002nig.4_Silent_p.C189C|PDE4C_uc002nih.4_Silent_p.C244C|PDE4C_uc010ebk.3_Silent_p.C368C|PDE4C_uc002nii.4_Silent_p.C442C|PDE4C_uc002nif.4_Silent_p.C243C|PDE4C_uc010ebl.3_Silent_p.C188C	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	474					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGAAGATATCGCAGTTCTCTG	0.602													A	18327614	G	A	18327614	2	1	59	1	0	0	0	0	0	0	0	1	11641	1079	38	1		1	PDE4C	19	18327614	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	2409711	18327614	40801369	97	3796											
CILP2	148113	broad.mit.edu	37	19	19653191	19653191	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:19653191C>T	uc002nmw.4	+	4	703	c.618C>T	c.(616-618)agC>agT	p.S206S	CILP2_uc002nmv.4_Silent_p.S200S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	200						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAGGGTGCAGCCTTGACACCT	0.582													T	19653191	C	T	19653191	2	4	59	1	0	0	0	0	0	0	0	1	3430	738	26	3		3	CILP2	19	19653191	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	1325577	19653191	39475792	98	3797											
ZNF208	7757	broad.mit.edu	37	19	22154854	22154854	+	Silent	SNP	A	A	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:22154854A>T	uc021urr.1	-	3	3131	c.2982T>A	c.(2980-2982)atT>atA	p.I994I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				CTCCAGTATGAATTACCTTAT	0.348													T	22154854	A	T	22154854	2	4	59	1	0	0	0	0	0	0	0	1	17763	242	9	5		5	ZNF208	19	22154854	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	2501663	22154854	36974129	99	3798											
MLL2	9757	broad.mit.edu	37	19	36222840	36222840	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:36222840C>T	uc021usv.1	+	26	5469	c.5469C>T	c.(5467-5469)gaC>gaT	p.D1823D	MLL2_uc021usu.1_Silent_p.D637D	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	440					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCCCACTGGACACAGATGTTC	0.627			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			T	36222840	C	T	36222840	2	4	59	1	0	0	0	0	0	0	0	1	9621	477	17	3		3	MLL2	19	36222840	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	14067986	36222840	22906143	100	3799											
MEGF8	1954	broad.mit.edu	37	19	42873137	42873137	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:42873137C>T	uc002otl.4	+	35	7058	c.6423C>T	c.(6421-6423)acC>acT	p.T2141T	MEGF8_uc002otm.4_Silent_p.T1749T|MEGF8_uc002otn.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2208	PSI 7.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCTGCAAGACCGGCTATACCA	0.637													T	42873137	C	T	42873137	2	4	59	1	0	0	0	0	0	0	0	1	9463	639	23	2		2	MEGF8	19	42873137	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	6650297	42873137	16255846	101	3800											
ZNF813	126017	broad.mit.edu	37	19	53994332	53994332	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:53994332G>A	uc021uzf.1	+	0	122	c.26G>A	c.(25-27)aGa>aAa	p.R9K	ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Silent_p.Q282Q	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTTTCAGTCAGACGTATTCCC	0.418													A	53994332	G	A	53994332	2	1	59	1	0	0	0	0	0	0	0	1	18172	933	33	3		3	ZNF813	19	53994332	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	11121195	53994332	5134651	102	3801											
SRXN1	140809	broad.mit.edu	37	20	629466	629466	+	Silent	SNP	G	G	A	rs140166119		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:629466G>A	uc002wea.3	-	1	367	c.306C>T	c.(304-306)taC>taT	p.Y102Y	SRXN1_uc002web.3_Non-coding_Transcript	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	Homo sapiens sulfiredoxin 1 (SRXN1), mRNA.	102					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GGTAGGCCGCGTAGCGGTGGC	0.617													A	629466	G	A	629466	2	1	59	1	0	0	0	0	0	0	0	1	15172	1140	40	1		1	SRXN1	20	629466	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		629466	62396054	103	3802											
PROKR2	128674	broad.mit.edu	37	20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:5282783C>T	uc010zqw.2	-	1	1066	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_uc010zqx.2_Missense_Mutation_p.R353H|PROKR2_uc010zqy.2_Missense_Mutation_p.R353H	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	353						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R353H(2)		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						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)			T	5282783	C	T	5282783	3	4	59	1	0	0	0	0	1	0	0	0	12553	536	19	1	99	1	PROKR2	20	5282783	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	4653317	5282783	57742737	104	3803											
SEL1L2	80343	broad.mit.edu	37	20	13899669	13899669	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:13899669T>A	uc010gcf.3	-	3	466	c.384A>T	c.(382-384)gaA>gaT	p.E128D	SEL1L2_uc002woq.4_5'UTR|SEL1L2_uc010zrl.2_Missense_Mutation_p.E128D|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	128						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGACTTACTCTTCTTTTTGTT	0.343													A	13899669	T	A	13899669	3	1	59	1	0	0	0	0	1	0	0	0	14011	1606	56	5	1750	5	SEL1L2	20	13899669	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	8616886	13899669	49125851	105	3804											
SPAG4	6676	broad.mit.edu	37	20	34206899	34206899	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:34206899G>A	uc002xdb.1	+	7	889	c.772G>A	c.(772-774)Gac>Aac	p.D258N	SPAG4_uc010zvi.1_Missense_Mutation_p.D181N	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	258					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCGGAAGCCCGACTATGCTTT	0.592													A	34206899	G	A	34206899	3	1	59	1	0	0	0	0	1	0	0	0	14980	1058	37	2	802	2	SPAG4	20	34206899	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	20307230	34206899	28818621	106	3805											
PLCG1	5335	broad.mit.edu	37	20	39795447	39795447	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:39795447T>G	uc002xjp.1	+	18	2370	c.2249T>G	c.(2248-2250)aTg>aGg	p.M750R	PLCG1_uc002xjo.1_Missense_Mutation_p.M750R|PLCG1_uc010zwe.1_Missense_Mutation_p.M376R|PLCG1_uc010ggf.3_Missense_Mutation_p.M100R	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	750	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TACCGCAAGATGAAGCTGCGC	0.572													G	39795447	T	G	39795447	3	3	59	1	0	0	0	0	1	0	0	0	12035	1464	51	5	2323	5	PLCG1	20	39795447	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	5588548	39795447	23230073	107	3806	4	2									
PLCG1	5335	broad.mit.edu	37	20	39795453	39795453	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:39795453T>A	uc002xjp.1	+	18	2376	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q	PLCG1_uc002xjo.1_Missense_Mutation_p.L752Q|PLCG1_uc010zwe.1_Missense_Mutation_p.L378Q|PLCG1_uc010ggf.3_Missense_Mutation_p.L102Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	752	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGATGAAGCTGCGCTATCCC	0.567													A	39795453	T	A	39795453	3	1	59	1	0	0	0	0	1	0	0	0	12035	1580	55	5	2329	5	PLCG1	20	39795453	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	6	39795453	23230067	108	3807	4	2									
ERG	2078	broad.mit.edu	37	21	39795357	39795357	+	Silent	SNP	G	G	A			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr21:39795357G>A	uc010gnw.3	-	4	679	c.384C>T	c.(382-384)aaC>aaT	p.N128N	ERG_uc021wjd.1_Silent_p.N128N|ERG_uc002yxa.3_Silent_p.N121N|ERG_uc011aek.2_Silent_p.N29N|ERG_uc010gnv.3_Silent_p.N29N|ERG_uc010gnx.3_Silent_p.N128N|ERG_uc011ael.2_Silent_p.N128N|ERG_uc002yxb.3_Silent_p.N128N|ERG_uc011aem.1_Silent_p.N121N|ERG_uc002yxc.4_Silent_p.N128N	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	128	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTCTGCGCTCGTTCGTGGTCA	0.602			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								A	39795357	G	A	39795357	2	1	59	1	0	0	0	0	0	0	0	1	5222	1136	40	1		1	ERG	21	39795357	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		39795357	8334538	109	3808											
UBASH3A	53347	broad.mit.edu	37	21	43867265	43867265	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr21:43867265C>T	uc002zbe.3	+	14	2031	c.1947C>T	c.(1945-1947)aaC>aaT	p.N649N	UBASH3A_uc002zbf.3_Silent_p.N611N|UBASH3A_uc010gpe.3_3'UTR|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	649	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGGGGCGAACGCAGCATTTA	0.527													T	43867265	C	T	43867265	2	4	59	1	0	0	0	0	0	0	0	1	16836	535	19	1		1	UBASH3A	21	43867265	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	4071908	43867265	4262630	110	3809											
GAL3ST1	9514	broad.mit.edu	37	22	30951882	30951882	+	Silent	SNP	G	G	A	rs112070427	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr22:30951882G>A	uc003aig.1	-	3	470	c.330C>T	c.(328-330)aaC>aaT	p.N110N	GAL3ST1_uc003aih.1_Silent_p.N110N|GAL3ST1_uc003aii.1_Silent_p.N110N|GAL3ST1_uc010gvz.1_Silent_p.N110N	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	110					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CATTGCGGCCGTTAGGGAAGG	0.597													A	30951882	G	A	30951882	2	1	59	1	0	0	0	0	0	0	0	1	6197	1136	40	1		1	GAL3ST1	22	30951882	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		30951882	20352684	111	3810											
P2RY8	286530	broad.mit.edu	37	X	1584686	1584686	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:1584686C>T	uc022brv.1	-	0	766	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.V256M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	256						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				GCCAGGAGCACGAAGTTGTTG	0.647			T	CRLF2	"B-ALL, Downs associated ALL"								T	1584686	C	T	1584686	3	4	59	1	0	0	0	0	1	0	0	0	11355	536	19	1	317	1	P2RY8	23	1584686	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		1584686	153685874	112	3811											
FOXR2	139628	broad.mit.edu	37	X	55650462	55650462	+	Silent	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:55650462C>T	uc004duo.3	+	0	630	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	106					embryo development|organ development|pattern specification process|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCTGACAAACATTTCTCCTT	0.542													T	55650462	C	T	55650462	2	4	59	1	0	0	0	0	0	0	0	1	6032	477	17	3		3	FOXR2	23	55650462	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	54065776	55650462	99620098	113	3812											
MUM1L1	139221	broad.mit.edu	37	X	105450617	105450617	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:105450617delT	uc022cca.1	+	0	1192	c.1192delT	c.(1192-1194)tttfs	p.F398fs	MUM1L1_uc004emg.2_Frame_Shift_Del_p.F398fs|MUM1L1_uc004emf.2_Frame_Shift_Del_p.F398fs	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	398	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GATAGTCTGGTTTAAATATCA	0.358													-	105450617	T	-	105450617	7	5	59	1	0	1	0	1	0	0	0	0	9986	1725	60	0	1194	0	MUM1L1	23	105450617	Frame_Shift_Del	DEL	T	TCGA-06-0743-01A-01D-1492-08	49800155	105450617	49819943	114	3813											
AGTR2	186	broad.mit.edu	37	X	115304521	115304521	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:115304521C>T	uc022cdd.1	+	0	988	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	AGTR2_uc004eqh.4_Missense_Mutation_p.R330C	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	330					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.R330L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ACAGAAGCTCCGCAGTGTGTT	0.463													T	115304521	C	T	115304521	3	4	59	1	0	0	0	0	1	0	0	0	402	652	23	2	990	2	AGTR2	23	115304521	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	9853904	115304521	39966039	115	3814											
MAGEC3	139081	broad.mit.edu	37	X	140966989	140966989	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:140966989G>C	uc011mwp.2	+	2	287	c.287G>C	c.(286-288)gGt>gCt	p.G96A		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	96										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)					GGGTCCCCAGGTTTACAACTT	0.582													C	140966989	G	C	140966989	3	2	59	1	0	0	0	0	1	0	0	0	9182	1261	44	5	297	5	MAGEC3	23	140966989	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	25662468	140966989	14303571	116	3815											
FLNA	2316	broad.mit.edu	37	X	153588445	153588445	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:153588445C>T	uc004fkk.2	-	21	3967	c.3718G>A	c.(3718-3720)Gtg>Atg	p.V1240M	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1240					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGGCACGGGCTGGCCG	0.627													T	153588445	C	T	153588445	3	4	59	1	0	0	0	0	1	0	0	0	5933	536	19	1	4333	1	FLNA	23	153588445	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	12621456	153588445	1682115	117	3816											
PCDH11Y	83259	broad.mit.edu	37	Y	5605460	5605460	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrY:5605460G>T	uc004fqo.3	+	4	4234	c.3500G>T	c.(3499-3501)aGc>aTc	p.S1167I	PCDH11Y_uc022ciy.1_5'Flank	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1167					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTATGCCACAGCCCACCACTG	0.552													T	5605460	G	T	5605460	3	4	59	1	0	0	0	0	1	0	0	0	11509	971	34	5	3576	5	PCDH11Y	24	5605460	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		5605460	53768106	118	3817											
ARID4B	51742	broad.mit.edu	37	1	235345495	235345495	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr1:235345495A>T	uc021pks.1	-	19	3116	c.2739T>A	c.(2737-2739)gaT>gaA	p.D913E	ARID4B_uc001hwq.3_Missense_Mutation_p.D913E|ARID4B_uc001hwr.3_Missense_Mutation_p.D827E|ARID4B_uc001hws.4_Missense_Mutation_p.D827E|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.D594E	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GAAGTCTTTCATCAGAGTTAT	0.373													T	235345495	A	T	235345495	3	4	60	1	0	0	0	0	1	0	0	0	920	214	8	5	1219	5	ARID4B	1	235345495	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08		235345495	13905126	1	3818											
ZNF638	27332	broad.mit.edu	37	2	71651040	71651040	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:71651040G>A	uc002shx.3	+	21	4719	c.4396G>A	c.(4396-4398)Gga>Aga	p.G1466R	ZNF638_uc010yqw.1_Missense_Mutation_p.G1045R|ZNF638_uc002shz.3_Missense_Mutation_p.G1466R|ZNF638_uc002shy.3_Missense_Mutation_p.G1466R|ZNF638_uc002sia.3_Missense_Mutation_p.G1466R|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.G563R|ZNF638_uc002sid.3_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1466					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTTACCAGAGGAGGCAGTGG	0.463													A	71651040	G	A	71651040	3	1	60	1	0	0	0	0	1	0	0	0	18052	1001	35	3	4478	3	ZNF638	2	71651040	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		71651040	171548333	2	3819											
C2orf78	388960	broad.mit.edu	37	2	74042973	74042973	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:74042973C>T	uc002sjr.1	+	2	1744	c.1623C>T	c.(1621-1623)agC>agT	p.S541S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	541										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCAGTAACAGCGCTTCTGTGA	0.502													T	74042973	C	T	74042973	2	4	60	1	0	0	0	0	0	0	0	1	2195	767	27	1		1	C2orf78	2	74042973	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	2391933	74042973	169156400	3	3820											
C2orf89	129293	broad.mit.edu	37	2	85051153	85051153	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:85051153G>A	uc010ysl.2	-	5	1347	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	C2orf89_uc002sou.4_Missense_Mutation_p.R371W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	420						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CGCTTCTTCCGGAACCTCTGT	0.667													A	85051153	G	A	85051153	3	1	60	1	0	0	0	0	1	0	0	0	2203	1115	39	2	267	2	C2orf89	2	85051153	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	11008180	85051153	158148220	4	3821											
RGPD4	285190	broad.mit.edu	37	2	108489249	108489249	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:108489249G>A	uc010ywk.2	+	19	4871	c.4789G>A	c.(4789-4791)Gtg>Atg	p.V1597M	RGPD4_uc002tdu.3_Missense_Mutation_p.V784M|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1597					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAAAGCAAAGTGGAACCTAA	0.378													A	108489249	G	A	108489249	3	1	60	1	0	0	0	0	1	0	0	0	13288	1029	36	3	4867	3	RGPD4	2	108489249	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	23438096	108489249	134710124	5	3822											
TTN	7273	broad.mit.edu	37	2	179412923	179412923	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:179412923G>A	uc021vsy.1	-	287	85951	c.85726C>T	c.(85726-85728)Cgg>Tgg	p.R28576W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22271W|TTN_uc021vta.1_Missense_Mutation_p.R22204W|TTN_uc021vtb.1_Missense_Mutation_p.R22079W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29503	Ig-like 132.						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)			CCAGTGATCCGGCTGCCTCCA	0.493													A	179412923	G	A	179412923	3	1	60	1	0	0	0	0	1	0	0	0	16732	1115	39	2	14645	2	TTN	2	179412923	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	70923674	179412923	63786450	6	3823											
SPEG	10290	broad.mit.edu	37	2	220309407	220309407	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:220309407G>A	uc010fwg.3	+	1	421	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	141					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			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)		CATCAGCGATGTGCAGGGAAC	0.622													A	220309407	G	A	220309407	3	1	60	1	0	0	0	0	1	0	0	0	15035	1377	48	3	427	3	SPEG	2	220309407	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	40896484	220309407	22889966	7	3824											
DOCK10	55619	broad.mit.edu	37	2	225706579	225706579	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:225706579T>C	uc010fwz.1	-	22	2842	c.2603A>G	c.(2602-2604)cAa>cGa	p.Q868R	DOCK10_uc002vob.2_Missense_Mutation_p.Q862R	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	868	DHR-1.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCTCTTTTTTGGCACTCTTG	0.383													C	225706579	T	C	225706579	3	2	60	1	0	0	0	0	1	0	0	0	4685	1812	63	4	4093	4	DOCK10	2	225706579	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	5397172	225706579	17492794	8	3825											
DGKD	8527	broad.mit.edu	37	2	234368926	234368926	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:234368926G>A	uc002vui.1	+	23	2928	c.2916G>A	c.(2914-2916)atG>atA	p.M972I	DGKD_uc002vuj.1_Missense_Mutation_p.M928I|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	972					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACCCGGAGATGCTGTCCGAGG	0.617													A	234368926	G	A	234368926	3	1	60	1	0	0	0	0	1	0	0	0	4467	1319	46	3	3034	3	DGKD	2	234368926	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	8662347	234368926	8830447	9	3826											
IQCF3	401067	broad.mit.edu	37	3	51863721	51863721	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:51863721G>A	uc021wyy.1	+	5	847	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.R20Q	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	20										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGACAGAGGCGGCAGAAGGTA	0.522													A	51863721	G	A	51863721	3	1	60	1	0	0	0	0	1	0	0	0	7809	1116	39	2	65	2	IQCF3	3	51863721	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		51863721	146158709	10	3827											
POU1F1	5449	broad.mit.edu	37	3	87325559	87325559	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:87325559G>A	uc010hoj.1	-	0	179	c.54C>T	c.(52-54)gaC>gaT	p.D18D	POU1F1_uc003dqq.1_Silent_p.D18D	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	18					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TTGCAGAGGCGTCAGAATTCA	0.478													A	87325559	G	A	87325559	2	1	60	1	0	0	0	0	0	0	0	1	12269	1136	40	1		1	POU1F1	3	87325559	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	35461838	87325559	110696871	11	3828											
UROC1	131669	broad.mit.edu	37	3	126219669	126219669	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:126219669G>C	uc010hsi.2	-	11	1248	c.1194C>G	c.(1192-1194)gaC>gaG	p.D398E	UROC1_uc003eiz.2_Missense_Mutation_p.D338E	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	338					histidine catabolic process	cytosol	urocanate hydratase activity			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)		CTGACCCCAGGTCCACCAAGC	0.632													C	126219669	G	C	126219669	3	2	60	1	0	0	0	0	1	0	0	0	17025	1252	44	5	1056	5	UROC1	3	126219669	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	38894110	126219669	71802761	12	3829											
ATR	545	broad.mit.edu	37	3	142280158	142280158	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:142280158C>T	uc003eux.4	-	4	1398	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	426					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTGATATTCCATCACTATTA	0.418								Other conserved DNA damage response genes					T	142280158	C	T	142280158	3	4	60	1	0	0	0	0	1	0	0	0	1204	603	21	3	6830	3	ATR	3	142280158	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	16060489	142280158	55742272	13	3830											
MAP3K13	9175	broad.mit.edu	37	3	185165672	185165672	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:185165672C>A	uc010hyf.3	+	5	1238	c.947C>A	c.(946-948)aCg>aAg	p.T316K	MAP3K13_uc011brt.2_Missense_Mutation_p.T109K|MAP3K13_uc003fph.4_Missense_Mutation_p.T84K|MAP3K13_uc011bru.2_Missense_Mutation_p.T172K|MAP3K13_uc003fpi.3_Missense_Mutation_p.T316K|MAP3K13_uc010hyg.3_Missense_Mutation_p.T6K	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	316	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTTGCTGGCACGGTCGCATGG	0.443													A	185165672	C	A	185165672	3	1	60	1	0	0	0	0	1	0	0	0	9247	536	19	5	961	5	MAP3K13	3	185165672	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	42885514	185165672	12856758	14	3831											
KNG1	3827	broad.mit.edu	37	3	186457116	186457116	+	Splice_Site	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:186457116G>A	uc011bsa.2	+	9	1273	c.1039_splice	c.e9-1	p.Q347_splice	KNG1_uc003fqr.3_Splice_Site_p.Q347_splice|KNG1_uc021xil.1_Splice_Site_p.Q311_splice	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	347	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTCATGGATAGCAAAGCCTAG	0.373													A	186457116	G	A	186457116	5	1	60	1	0	0	0	0	0	0	1	0	8427	985	34	3	1072	3	KNG1	3	186457116	Splice_Site	SNP	G	TCGA-06-0744-01A-01W-0348-08	1291444	186457116	11565314	15	3832											
TP63	8626	broad.mit.edu	37	3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:189582120G>A	uc003fry.2	+	4	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_uc003frx.2_Missense_Mutation_p.A227T|TP63_uc003frz.2_Missense_Mutation_p.A227T|TP63_uc010hzc.1_Missense_Mutation_p.A227T|TP63_uc003fsa.2_Missense_Mutation_p.A133T|TP63_uc003fsb.2_Missense_Mutation_p.A133T|TP63_uc003fsc.2_Missense_Mutation_p.A133T|TP63_uc003fsd.2_Missense_Mutation_p.A133T|TP63_uc021xir.1_Missense_Mutation_p.A133T|TP63_uc010hzd.1_Missense_Mutation_p.A48T|TP63_uc003fse.1_Missense_Mutation_p.A108T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	227					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)			A	189582120	G	A	189582120	3	1	60	1	0	0	0	0	1	0	0	0	16389	1087	38	1	743	1	TP63	3	189582120	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	3125004	189582120	8440310	16	3833											
JAKMIP1	152789	broad.mit.edu	37	4	6107274	6107274	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:6107274G>A	uc010idb.1	-	2	1036	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R184C|JAKMIP1_uc003giu.4_Missense_Mutation_p.R184C|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.R184C|JAKMIP1_uc010ide.3_Missense_Mutation_p.R184C	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	184	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGGCGGCACGCAGGTCGGCT	0.682													A	6107274	G	A	6107274	3	1	60	1	0	0	0	0	1	0	0	0	7940	1087	38	1	2096	1	JAKMIP1	4	6107274	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		6107274	185047002	17	3834											
CENPE	1062	broad.mit.edu	37	4	104079809	104079809	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:104079809C>T	uc003hxb.1	-	22	2926	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	CENPE_uc003hxc.1_Missense_Mutation_p.D921N	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	946					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAGTTGGTCCCTCTCAATT	0.333													T	104079809	C	T	104079809	3	4	60	1	0	0	0	0	1	0	0	0	3230	855	30	3	5377	3	CENPE	4	104079809	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	97972535	104079809	87074467	18	3835											
EXOSC9	5393	broad.mit.edu	37	4	122735086	122735086	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:122735086G>C	uc003iea.3	+	9	1148	c.1040G>C	c.(1039-1041)tGg>tCg	p.W347S	EXOSC9_uc003idz.3_Missense_Mutation_p.W347S|EXOSC9_uc003ieb.3_Missense_Mutation_p.W331S|EXOSC9_uc010inp.1_Non-coding_Transcript	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	347					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAAAACTCCTGGGGTGATCTT	0.413													C	122735086	G	C	122735086	3	2	60	1	0	0	0	0	1	0	0	0	5321	1357	47	5	1078	5	EXOSC9	4	122735086	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	18655277	122735086	68419190	19	3836											
GYPA	2993	broad.mit.edu	37	4	145038021	145038021	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:145038021G>A	uc003ijo.4	-	4	459	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.R82C|GYPA_uc003ijp.4_Missense_Mutation_p.R83C|GYPA_uc010ioq.3_Missense_Mutation_p.R102C|GYPA_uc010ior.3_Missense_Mutation_p.R50C|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	115					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ATCAGTCGGCGAATACCGTAA	0.368													A	145038021	G	A	145038021	3	1	60	1	0	0	0	0	1	0	0	0	6908	1058	37	2	121	2	GYPA	4	145038021	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	22302935	145038021	46116255	20	3837											
ADAM29	11086	broad.mit.edu	37	4	175897195	175897195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:175897195C>A	uc003iuc.3	+	4	1189	c.519C>A	c.(517-519)tgC>tgA	p.C173*	ADAM29_uc003iud.3_Nonsense_Mutation_p.C173*|ADAM29_uc010irr.3_Nonsense_Mutation_p.C173*|ADAM29_uc011cki.2_Nonsense_Mutation_p.C173*|ADAM29_uc021xuo.1_Nonsense_Mutation_p.C173*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	173					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAATAACATGCCGAATGGAAT	0.368													A	175897195	C	A	175897195	4	1	60	1	0	0	0	0	0	1	0	0	247	747	26	5	521	5	ADAM29	4	175897195	Nonsense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	30859174	175897195	15257081	21	3838											
CCDC110	256309	broad.mit.edu	37	4	186381243	186381243	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:186381243G>A	uc003ixu.4	-	5	574	c.498C>T	c.(496-498)tcC>tcT	p.S166S	CCDC110_uc003ixv.4_Silent_p.S129S|CCDC110_uc011ckt.1_Silent_p.S166S	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	166						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGTGTCCTCGGAATGTATCT	0.348													A	186381243	G	A	186381243	2	1	60	1	0	0	0	0	0	0	0	1	2747	1103	39	2		2	CCDC110	4	186381243	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	10484048	186381243	4773033	22	3839											
ADCY2	108	broad.mit.edu	37	5	7743842	7743842	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:7743842G>A	uc003jdz.1	+	14	2000	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	ADCY2_uc011cmo.1_Missense_Mutation_p.V465I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	645					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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATCCTCTTCGTCTGCTTTGC	0.478													A	7743842	G	A	7743842	3	1	60	1	0	0	0	0	1	0	0	0	294	1145	40	1	1991	1	ADCY2	5	7743842	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		7743842	173171418	23	3840											
PDZD2	23037	broad.mit.edu	37	5	31995769	31995769	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:31995769C>T	uc003jhl.3	+	3	1454	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	PDZD2_uc003jhm.3_Missense_Mutation_p.R356C|PDZD2_uc011cnx.1_Missense_Mutation_p.R182C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	356	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGGATCAAAGCGCTCACCTCA	0.532													T	31995769	C	T	31995769	3	4	60	1	0	0	0	0	1	0	0	0	11701	768	27	1	1076	1	PDZD2	5	31995769	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	24251927	31995769	148919491	24	3841											
ADAMTS12	81792	broad.mit.edu	37	5	33576992	33576992	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:33576992C>T	uc003jia.1	-	18	3302	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T	ADAMTS12_uc010iuq.1_Missense_Mutation_p.A962T	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1047	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1047E(1)		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						CTGCTGATTGCTGGAGTGCTT	0.552										HNSCC(64;0.19)			T	33576992	C	T	33576992	3	4	60	1	0	0	0	0	1	0	0	0	257	797	28	3	1669	3	ADAMTS12	5	33576992	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	1581223	33576992	147338268	25	3842											
ADAMTS12	81792	broad.mit.edu	37	5	33684033	33684033	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:33684033G>A	uc003jia.1	-	3	925	c.762C>T	c.(760-762)gcC>gcT	p.A254A	ADAMTS12_uc010iuq.1_Silent_p.A254A	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	254	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TCTTTGTGTCGGCCACCACCA	0.547										HNSCC(64;0.19)			A	33684033	G	A	33684033	2	1	60	1	0	0	0	0	0	0	0	1	257	1103	39	2		2	ADAMTS12	5	33684033	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	107041	33684033	147231227	26	3843											
OSMR	9180	broad.mit.edu	37	5	38924670	38924670	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:38924670C>T	uc003jln.2	+	13	2419	c.2017C>T	c.(2017-2019)Cca>Tca	p.P673S	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	673	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCAGTGCCACCCACGATTTGA	0.358													T	38924670	C	T	38924670	3	4	60	1	0	0	0	0	1	0	0	0	11292	623	22	3	2105	3	OSMR	5	38924670	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	5240637	38924670	141990590	27	3844											
CMYA5	202333	broad.mit.edu	37	5	79035031	79035031	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:79035031G>A	uc003kgc.3	+	1	10515	c.10443G>A	c.(10441-10443)ttG>ttA	p.L3481L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3481						perinuclear region of cytoplasm		p.E3480*(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGAGTTGGGCAGCGAGA	0.403													A	79035031	G	A	79035031	2	1	60	1	0	0	0	0	0	0	0	1	3590	1339	47	3		3	CMYA5	5	79035031	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	40110361	79035031	101880229	28	3845											
CTNNA1	1495	broad.mit.edu	37	5	138253458	138253458	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:138253458G>A	uc003ldh.3	+	10	1512	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	CTNNA1_uc011cyx.2_Missense_Mutation_p.A370T|CTNNA1_uc011cyy.2_Missense_Mutation_p.A350T|CTNNA1_uc003ldi.3_Missense_Mutation_p.A171T|CTNNA1_uc003ldj.3_Missense_Mutation_p.A473T|CTNNA1_uc003ldl.3_Missense_Mutation_p.A103T	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	473				A -> P (in Ref. 3; AAA86430/AAA18949).	adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCTTTAGCAGCAAAACCACA	0.388													A	138253458	G	A	138253458	3	1	60	1	0	0	0	0	1	0	0	0	4012	971	34	3	1455	3	CTNNA1	5	138253458	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	59218427	138253458	42661802	29	3846											
PCDHAC2	56140	broad.mit.edu	37	5	140222780	140222780	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:140222780G>T	uc003lhs.2	+	0	1874	c.1874G>T	c.(1873-1875)gGg>gTg	p.G625V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.G625V	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	636	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCGCGTGGGGCTGTACACG	0.652													T	140222780	G	T	140222780	3	4	60	1	0	0	0	0	1	0	0	0	11533	1232	43	5		5	PCDHAC2	5	140222780	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	1969322	140222780	40692480	30	3847											
PCDHB7	56129	broad.mit.edu	37	5	140554382	140554382	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:140554382G>A	uc003lit.3	+	0	2140	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	656	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T655T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.706													A	140554382	G	A	140554382	3	1	60	1	0	0	0	0	1	0	0	0	11547	1087	38	1	1968	1	PCDHB7	5	140554382	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	331602	140554382	40360878	31	3848											
NMUR2	56923	broad.mit.edu	37	5	151771915	151771915	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:151771915C>T	uc003luv.2	-	3	1251	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	362					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.R362Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGATGTTCCGCTGGGCAGG	0.532													T	151771915	C	T	151771915	3	4	60	1	0	0	0	0	1	0	0	0	10507	652	23	2	166	2	NMUR2	5	151771915	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	11217533	151771915	29143345	32	3849											
TRIM40	135644	broad.mit.edu	37	6	30114887	30114887	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:30114887G>A	uc003npk.2	+	3	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_uc003npm.2_Silent_p.A160A	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	189						intracellular	zinc ion binding			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597													A	30114887	G	A	30114887	2	1	60	1	0	0	0	0	0	0	0	1	16512	1103	39	2		2	TRIM40	6	30114887	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08		30114887	141000180	33	3850											
TRIM10	10107	broad.mit.edu	37	6	30127012	30127012	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:30127012T>C	uc003npo.3	-	1	516	c.440A>G	c.(439-441)cAt>cGt	p.H147R	TRIM10_uc003npn.2_Missense_Mutation_p.H147R	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	147						cytoplasm	zinc ion binding			ovary(1)	1						AAGACACTTATGGATTTGTTC	0.403													C	30127012	T	C	30127012	3	2	60	1	0	0	0	0	1	0	0	0	16483	1464	51	4	1117	4	TRIM10	6	30127012	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	12125	30127012	140988055	34	3851											
GPR115	221393	broad.mit.edu	37	6	47681719	47681719	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:47681719C>A	uc003oyz.1	+	6	909	c.909C>A	c.(907-909)caC>caA	p.H303Q	GPR115_uc003oza.1_Missense_Mutation_p.H246Q|GPR115_uc003ozb.1_Missense_Mutation_p.H246Q|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	246					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAGGGTTTCACATCAACCATA	0.393													A	47681719	C	A	47681719	3	1	60	1	0	0	0	0	1	0	0	0	6632	477	17	5	756	5	GPR115	6	47681719	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	17554707	47681719	123433348	35	3852											
DOPEY1	23033	broad.mit.edu	37	6	83830474	83830474	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:83830474C>T	uc011dyy.2	+	9	1296	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	DOPEY1_uc003pjs.1_Missense_Mutation_p.R355C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R346C	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	355					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAGCCTTTTCGCATTTTAAT	0.368													T	83830474	C	T	83830474	3	4	60	1	0	0	0	0	1	0	0	0	4707	884	31	2	1093	2	DOPEY1	6	83830474	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	36148755	83830474	87284593	36	3853											
AIM1	202	broad.mit.edu	37	6	106978130	106978130	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:106978130A>C	uc003prh.3	+	5	4346	c.3434A>C	c.(3433-3435)gAa>gCa	p.E1145A		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1145	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GATGATACTGAAGAAATGCAG	0.328													C	106978130	A	C	106978130	3	2	60	1	0	0	0	0	1	0	0	0	430	246	9	5	3456	5	AIM1	6	106978130	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08	23147656	106978130	64136937	37	3854											
ELMO1	9844	broad.mit.edu	37	7	37253052	37253052	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:37253052C>T	uc022abv.1	-	11	1552	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	ELMO1_uc011kbc.2_Missense_Mutation_p.R185Q|ELMO1_uc003tfk.2_Missense_Mutation_p.R281Q|ELMO1_uc010kxg.2_Missense_Mutation_p.R281Q	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	281					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.I280I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCGCTGGGCTCGGATGACATG	0.433													T	37253052	C	T	37253052	3	4	60	1	0	0	0	0	1	0	0	0	5065	884	31	2	1385	2	ELMO1	7	37253052	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08		37253052	121885611	38	3855											
ELMO1	9844	broad.mit.edu	37	7	37298915	37298915	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:37298915G>A	uc022abv.1	-	5	994	c.284C>T	c.(283-285)tCg>tTg	p.S95L	ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Missense_Mutation_p.S95L|ELMO1_uc010kxg.2_Missense_Mutation_p.S95L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	95					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S95S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATCCATACTCGAGGACTGGAT	0.522													A	37298915	G	A	37298915	3	1	60	1	0	0	0	0	1	0	0	0	5065	1059	37	2	1967	2	ELMO1	7	37298915	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	45863	37298915	121839748	39	3856											
WBSCR17	64409	broad.mit.edu	37	7	70881029	70881029	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:70881029C>T	uc003tvy.3	+	3	744	c.744C>T	c.(742-744)caC>caT	p.H248H	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	248	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGATGCCCACGTGGAATTCA	0.567													T	70881029	C	T	70881029	2	4	60	1	0	0	0	0	0	0	0	1	17261	535	19	1		1	WBSCR17	7	70881029	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	33582114	70881029	88257634	40	3857											
NSUN5	55695	broad.mit.edu	37	7	72721634	72721634	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:72721634G>A	uc003txw.3	-	2	414	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R113W|NSUN5_uc003txv.3_Missense_Mutation_p.R113W|NSUN5_uc003txx.3_Missense_Mutation_p.R75W	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	113							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTCACACCCCGATGAACCTTG	0.637													A	72721634	G	A	72721634	3	1	60	1	0	0	0	0	1	0	0	0	10681	1057	37	2	1116	2	NSUN5	7	72721634	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	1840605	72721634	86417029	41	3858											
SAMD9	54809	broad.mit.edu	37	7	92734204	92734204	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:92734204C>A	uc003umf.3	-	2	1477	c.1207G>T	c.(1207-1209)Gat>Tat	p.D403Y	SAMD9_uc003umg.3_Missense_Mutation_p.D403Y|SAMD9_uc022ahg.1_Missense_Mutation_p.D403Y	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	403						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTAACAAATCTTGATTTCCT	0.323													A	92734204	C	A	92734204	3	1	60	1	0	0	0	0	1	0	0	0	13826	913	32	5	3566	5	SAMD9	7	92734204	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	20012570	92734204	66404459	42	3859											
PON1	5444	broad.mit.edu	37	7	94931534	94931534	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:94931534T>A	uc003uns.3	-	7	989	c.892A>T	c.(892-894)Aat>Tat	p.N298Y	PON1_uc011kih.2_Missense_Mutation_p.N298Y	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	298					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GCAGGAGGATTCTCTGAGTCA	0.398													A	94931534	T	A	94931534	3	1	60	1	0	0	0	0	1	0	0	0	12248	1783	62	5	183	5	PON1	7	94931534	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	2197330	94931534	64207129	43	3860											
MUC17	140453	broad.mit.edu	37	7	100675948	100675948	+	Silent	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:100675948T>C	uc003uxp.1	+	2	1304	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	417	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.I416N(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)					CAACAATTCCTGTTGACTCCA	0.458													C	100675948	T	C	100675948	2	2	60	1	0	0	0	0	0	0	0	1	9974	1567	55	4		4	MUC17	7	100675948	Silent	SNP	T	TCGA-06-0744-01A-01W-0348-08	5744414	100675948	58462715	44	3861											
ARHGEF35	445328	broad.mit.edu	37	7	143884194	143884194	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:143884194A>T	uc003wdz.2	-	1	1456	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	ARHGEF35_uc022aog.1_Missense_Mutation_p.L428H	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.	428										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTGAGTCACGAGATATGAGGC	0.572													T	143884194	A	T	143884194	3	4	60	1	0	0	0	0	1	0	0	0	905	304	11	5	175	5	ARHGEF35	7	143884194	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08	43208246	143884194	15254469	45	3862											
GALNT11	63917	broad.mit.edu	37	7	151805176	151805176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:151805176C>G	uc010lqg.1	+	5	996	c.766C>G	c.(766-768)Cag>Gag	p.Q256E	GALNT11_uc011kvm.1_Missense_Mutation_p.Q175E|GALNT11_uc003wku.2_Missense_Mutation_p.Q256E|GALNT11_uc011kvn.1_Non-coding_Transcript|GALNT11_uc003wkw.1_Missense_Mutation_p.Q4E	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	256	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GATGTGGCTGCAGCCCTTGCT	0.582													G	151805176	C	G	151805176	3	3	60	1	0	0	0	0	1	0	0	0	6209	711	25	5	784	5	GALNT11	7	151805176	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	7920982	151805176	7333487	46	3863											
DOCK5	80005	broad.mit.edu	37	8	25167952	25167952	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:25167952G>A	uc003xeg.3	+	12	1359	c.1222G>A	c.(1222-1224)Ggt>Agt	p.G408S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.G122S|DOCK5_uc003xei.3_5'UTR	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	408						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTCTTGCCCGGTGACCTCAC	0.408													A	25167952	G	A	25167952	3	1	60	1	0	0	0	0	1	0	0	0	4690	1116	39	2	1272	2	DOCK5	8	25167952	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		25167952	121196070	47	3864											
RAB11FIP1	80223	broad.mit.edu	37	8	37730005	37730005	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:37730005G>A	uc003xkm.2	-	3	2371	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	772					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGAGGGGGCGCCACTTCTTC	0.567													A	37730005	G	A	37730005	3	1	60	1	0	0	0	0	1	0	0	0	12893	1087	38	1	1548	1	RAB11FIP1	8	37730005	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	12562053	37730005	108634017	48	3865											
RIMS2	9699	broad.mit.edu	37	8	105001597	105001597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:105001597C>T	uc003yls.3	+	14	2567	c.2326C>T	c.(2326-2328)Cga>Tga	p.R776*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R837*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1060					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R776*(1)|p.R776Q(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)			TACAATTAGCCGAATGGACAG	0.368										HNSCC(12;0.0054)			T	105001597	C	T	105001597	4	4	60	1	0	0	0	0	0	1	0	0	13368	644	23	2	3184	2	RIMS2	8	105001597	Nonsense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	67271592	105001597	41362425	49	3866											
ENPP2	5168	broad.mit.edu	37	8	120569920	120569920	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:120569920G>A	uc003yos.2	-	25	2675	c.2589C>T	c.(2587-2589)gaC>gaT	p.D863D	ENPP2_uc011lic.2_Silent_p.D349D|ENPP2_uc003yor.2_Silent_p.D446D|ENPP2_uc010mdd.2_Silent_p.D836D|ENPP2_uc003yot.2_Silent_p.D811D	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	811					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.E862K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTTGATTCGTCCTCTGAGC	0.453													A	120569920	G	A	120569920	2	1	60	1	0	0	0	0	0	0	0	1	5130	1136	40	1		1	ENPP2	8	120569920	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	15568323	120569920	25794102	50	3867											
GLI4	2738	broad.mit.edu	37	8	144358513	144358513	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:144358513T>G	uc003yxx.3	+	3	755	c.670T>G	c.(670-672)Tcg>Gcg	p.S224A	ZFP41_uc003yxv.3_Non-coding_Transcript	NM_138465	NP_612474	P10075	GLI4_HUMAN	Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.	224						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCGCGGCTGGTCGGGCTTCAT	0.652													G	144358513	T	G	144358513	3	3	60	1	0	0	0	0	1	0	0	0	6440	1667	58	5	680	5	GLI4	8	144358513	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	23788593	144358513	2005509	51	3868											
EPPK1	83481	broad.mit.edu	37	8	144940380	144940380	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:144940380C>T	uc003zaa.1	-	0	7055	c.7042G>A	c.(7042-7044)Gtc>Atc	p.V2348I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2348						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGACGCCGCCCGTG	0.697													T	144940380	C	T	144940380	3	4	60	1	0	0	0	0	1	0	0	0	5190	536	19	1	224	1	EPPK1	8	144940380	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	581867	144940380	1423642	52	3869											
TAF1L	138474	broad.mit.edu	37	9	32630560	32630560	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:32630560G>C	uc003zrg.1	-	0	5108	c.5018C>G	c.(5017-5019)aCa>aGa	p.T1673R	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1673					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			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)		ACTGAGGGATGTGTTGGTATC	0.473													C	32630560	G	C	32630560	3	2	60	1	0	0	0	0	1	0	0	0	15520	1377	48	5	466	5	TAF1L	9	32630560	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		32630560	108582871	53	3870											
FAM75C1	441452	broad.mit.edu	37	9	90536517	90536517	+	Silent	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:90536517A>G	uc010mqi.3	+	3	1724	c.1695A>G	c.(1693-1695)tcA>tcG	p.S565S	FAM75C1_uc004apq.4_Silent_p.S548S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GGAGTGACTCAGGAAGTGATT	0.507													G	90536517	A	G	90536517	2	3	60	1	0	0	0	0	0	0	0	1	5623	175	7	4		4	FAM75C1	9	90536517	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	57905957	90536517	50676914	54	3871											
C9orf156	51531	broad.mit.edu	37	9	100672419	100672419	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:100672419C>A	uc004axv.1	-	3	966	c.889G>T	c.(889-891)Gtc>Ttc	p.V297F	C9orf156_uc004axw.1_Missense_Mutation_p.V194F|C9orf156_uc010msq.1_Missense_Mutation_p.V194F	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.	297					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CCTTGCAAGACTGCTGCTCCT	0.562													A	100672419	C	A	100672419	3	1	60	1	0	0	0	0	1	0	0	0	2465	565	20	5	444	5	C9orf156	9	100672419	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	10135902	100672419	40541012	55	3872											
ANKS6	203286	broad.mit.edu	37	9	101530447	101530447	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:101530447C>T	uc004ayu.3	-	10	2079	c.2058G>A	c.(2056-2058)cgG>cgA	p.R686R	ANKS6_uc004ayv.2_Silent_p.R148R|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.R385R	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	686	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGGGCTTGACCGATGGCTGG	0.577													T	101530447	C	T	101530447	2	4	60	1	0	0	0	0	0	0	0	1	692	494	18	3		3	ANKS6	9	101530447	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	858028	101530447	39682984	56	3873											
GRIN3A	116443	broad.mit.edu	37	9	104499635	104499635	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:104499635G>A	uc004bbp.2	-	0	1228	c.627C>T	c.(625-627)ctC>ctT	p.L209L	GRIN3A_uc004bbq.1_Silent_p.L209L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	209					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGACCAAGTCGAGCTCCATCA	0.597													A	104499635	G	A	104499635	2	1	60	1	0	0	0	0	0	0	0	1	6783	1045	37	2		2	GRIN3A	9	104499635	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	2969188	104499635	36713796	57	3874											
OR13C5	138799	broad.mit.edu	37	9	107361108	107361108	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:107361108T>A	uc011lvp.2	-	0	587	c.587A>T	c.(586-588)gAg>gTg	p.E196V		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGGATGAACTCATTGCCTGA	0.383													A	107361108	T	A	107361108	3	1	60	1	0	0	0	0	1	0	0	0	10937	1551	54	5	371	5	OR13C5	9	107361108	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	2861473	107361108	33852323	58	3875											
KCNT1	57582	broad.mit.edu	37	9	138671275	138671275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:138671275G>A	uc011mdq.2	+	23	2874	c.2800G>A	c.(2800-2802)Gcc>Acc	p.A934T	KCNT1_uc011mdr.2_Missense_Mutation_p.A761T|KCNT1_uc010nbf.3_Missense_Mutation_p.A889T|KCNT1_uc004cgo.1_Missense_Mutation_p.A683T	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	934						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTTCCGCGCCAAGGACAG	0.622													A	138671275	G	A	138671275	3	1	60	1	0	0	0	0	1	0	0	0	8091	1087	38	1	2894	1	KCNT1	9	138671275	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	31310167	138671275	2542156	59	3876											
RIC8A	60626	broad.mit.edu	37	11	209578	209578	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:209578G>A	uc001lof.3	+	2	629	c.304G>A	c.(304-306)Gag>Aag	p.E102K	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.E102K|RIC8A_uc001loh.3_Missense_Mutation_p.E95K	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	102						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCTGTCTCTGAGGGGTCCGT	0.617													A	209578	G	A	209578	3	1	60	1	0	0	0	0	1	0	0	0	13355	1291	45	3	314	3	RIC8A	11	209578	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		209578	134796938	60	3877											
GALNTL4	374378	broad.mit.edu	37	11	11398782	11398782	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:11398782G>A	uc001mjo.2	-	4	1345	c.924C>T	c.(922-924)taC>taT	p.Y308Y		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	308						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GGGGATTTAGGTAGCGGCACC	0.532													A	11398782	G	A	11398782	2	1	60	1	0	0	0	0	0	0	0	1	6223	1256	44	3		3	GALNTL4	11	11398782	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	11189204	11398782	123607734	61	3878											
C11orf41	25758	broad.mit.edu	37	11	33564672	33564672	+	Silent	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:33564672A>G	uc021qfs.1	+	0	796	c.672A>G	c.(670-672)ccA>ccG	p.P224P	C11orf41_uc001mun.1_Silent_p.P224P	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	224						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CTCCTGTGCCAGAAATGCCCA	0.537											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33564672	A	G	33564672	2	3	60	1	0	0	0	0	0	0	0	1	1640	175	7	4		4	C11orf41	11	33564672	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	22165890	33564672	101441844	62	3879											
OR4A47	403253	broad.mit.edu	37	11	48510526	48510526	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:48510526T>C	uc010rhx.2	+	0	182	c.182T>C	c.(181-183)cTt>cCt	p.L61P		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TACTTCTTTCTTGCTGGCTTA	0.408													C	48510526	T	C	48510526	3	2	60	1	0	0	0	0	1	0	0	0	11042	1609	56	4	184	4	OR4A47	11	48510526	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	14945854	48510526	86495990	63	3880											
OR5I1	10798	broad.mit.edu	37	11	55703856	55703856	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:55703856G>C	uc010ris.2	-	0	21	c.21C>G	c.(19-21)aaC>aaG	p.N7K		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R6R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCAACGTGTAGTTTCTATCTG	0.333													C	55703856	G	C	55703856	3	2	60	1	0	0	0	0	1	0	0	0	11164	1020	36	5	926	5	OR5I1	11	55703856	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	7193330	55703856	79302660	64	3881											
SLC22A8	9376	broad.mit.edu	37	11	62767306	62767306	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:62767306C>T	uc009yon.3	-	3	567	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Missense_Mutation_p.R26H|SLC22A8_uc001nwo.3_Missense_Mutation_p.R149H|SLC22A8_uc010rmm.2_Missense_Mutation_p.R58H|SLC22A8_uc001nwp.2_Missense_Mutation_p.R149H	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	149			R -> S (complete loss of function; dbSNP:rs45566039).		response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GATGGGCCTGCGGCCAAACCT	0.627													T	62767306	C	T	62767306	3	4	60	1	0	0	0	0	1	0	0	0	14460	768	27	1	1214	1	SLC22A8	11	62767306	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	7063450	62767306	72239210	65	3882											
HTR3A	3359	broad.mit.edu	37	11	113860380	113860380	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:113860380C>T	uc010rxb.2	+	7	1679	c.1446C>T	c.(1444-1446)cgC>cgT	p.R482R	HTR3A_uc010rxa.2_Silent_p.R450R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R429R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	444					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ACTGGCTGCGCGTGGGCTCCG	0.612													T	113860380	C	T	113860380	2	4	60	1	0	0	0	0	0	0	0	1	7444	755	27	1		1	HTR3A	11	113860380	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	51093074	113860380	21146136	66	3883											
C2CD2L	9854	broad.mit.edu	37	11	118984640	118984640	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:118984640G>A	uc001pvn.3	+	11	1927	c.1568G>A	c.(1567-1569)cGg>cAg	p.R523Q	C2CD2L_uc001pvo.3_Missense_Mutation_p.R522Q	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	522						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCAGTGGGCGGGTGGCCAAG	0.587													A	118984640	G	A	118984640	3	1	60	1	0	0	0	0	1	0	0	0	2153	1116	39	2	1614	2	C2CD2L	11	118984640	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	5124260	118984640	16021876	67	3884											
OR6M1	390261	broad.mit.edu	37	11	123676407	123676407	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123676407G>A	uc010rzz.2	-	0	651	c.651C>T	c.(649-651)taC>taT	p.Y217Y		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		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;0.028)		TAGAAATTATGTACACGTAGG	0.493													A	123676407	G	A	123676407	2	1	60	1	0	0	0	0	0	0	0	1	11205	1372	48	3		3	OR6M1	11	123676407	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	4691767	123676407	11330109	68	3885											
OR10G9	219870	broad.mit.edu	37	11	123894514	123894514	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123894514C>T	uc010sad.2	+	0	795	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTCCAGGGACGTCGTGGATG	0.517													T	123894514	C	T	123894514	2	4	60	1	0	0	0	0	0	0	0	1	10904	535	19	1		1	OR10G9	11	123894514	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	218107	123894514	11112002	69	3886											
OR10G7	390265	broad.mit.edu	37	11	123908977	123908977	+	Silent	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123908977A>G	uc001pzq.1	-	0	732	c.732T>C	c.(730-732)tgT>tgC	p.C244C		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACCACGATACAGTGGGAGG	0.567													G	123908977	A	G	123908977	2	3	60	1	0	0	0	0	0	0	0	1	10902	389	14	4		4	OR10G7	11	123908977	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	14463	123908977	11097539	70	3887											
TSPAN9	10867	broad.mit.edu	37	12	3388164	3388164	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr12:3388164A>G	uc001qlp.3	+	4	445	c.262A>G	c.(262-264)Atc>Gtc	p.I88V	TSPAN9_uc021qtd.1_Missense_Mutation_p.I88V	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	88						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CCAGTTTTTCATCGTCCTGTT	0.552													G	3388164	A	G	3388164	3	3	60	1	0	0	0	0	1	0	0	0	16651	217	8	4	272	4	TSPAN9	12	3388164	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08		3388164	130463731	71	3888											
PSMB11	122706	broad.mit.edu	37	14	23511816	23511816	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:23511816G>A	uc010ake.1	+	0	441	c.382G>A	c.(382-384)Gct>Act	p.A128T		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	128					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TGTGGCCAGTGCTGCCAAGCT	0.622													A	23511816	G	A	23511816	3	1	60	1	0	0	0	0	1	0	0	0	12676	1319	46	3	384	3	PSMB11	14	23511816	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		23511816	83837724	72	3889											
ARHGAP5	394	broad.mit.edu	37	14	32561267	32561267	+	Silent	SNP	A	A	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:32561267A>G	uc001wrl.3	+	1	1631	c.1392A>G	c.(1390-1392)aaA>aaG	p.K464K	ARHGAP5_uc001wrm.3_Silent_p.K464K|ARHGAP5_uc001wrn.3_Silent_p.K464K|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	464	FF 3.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.Y463F(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAGCCTACAAATATATCACTG	0.373													G	32561267	A	G	32561267	2	3	60	1	0	0	0	0	0	0	0	1	886	98	4	4		4	ARHGAP5	14	32561267	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	9049451	32561267	74788273	73	3890											
ARHGAP5	394	broad.mit.edu	37	14	32561946	32561946	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:32561946A>T	uc001wrl.3	+	1	2310	c.2071A>T	c.(2071-2073)Atg>Ttg	p.M691L	ARHGAP5_uc001wrm.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	691					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGATAAATACATGGCTAATCT	0.358													T	32561946	A	T	32561946	3	4	60	1	0	0	0	0	1	0	0	0	886	217	8	5	2073	5	ARHGAP5	14	32561946	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08	679	32561946	74787594	74	3891											
LRFN5	145581	broad.mit.edu	37	14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:42360832G>A	uc001wvm.3	+	3	2963	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	589						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCCAGTCCGTGTCCAAACA	0.463										HNSCC(30;0.082)			A	42360832	G	A	42360832	3	1	60	1	0	0	0	0	1	0	0	0	8941	1145	40	1	1771	1	LRFN5	14	42360832	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	9798886	42360832	64988708	75	3892											
CDC42BPB	9578	broad.mit.edu	37	14	103440447	103440447	+	Missense_Mutation	SNP	G	G	A	rs149124468		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:103440447G>A	uc001ymi.1	-	11	1779	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	516					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGCGAAGCGCCACTGTGTC	0.537													A	103440447	G	A	103440447	3	1	60	1	0	0	0	0	1	0	0	0	3073	1087	38	1	3692	1	CDC42BPB	14	103440447	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	61079615	103440447	3909093	76	3893											
AHNAK2	113146	broad.mit.edu	37	14	105409046	105409046	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:105409046G>A	uc010axc.1	-	6	12862	c.12742C>T	c.(12742-12744)Ccc>Tcc	p.P4248S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4148S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4248						nucleus				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)			TCCGCCTTGGGGCCTTTCAGG	0.647													A	105409046	G	A	105409046	3	1	60	1	0	0	0	0	1	0	0	0	415	1232	43	3	4649	3	AHNAK2	14	105409046	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	1968599	105409046	1940494	77	3894											
OR4N4	283694	broad.mit.edu	37	15	22383070	22383070	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr15:22383070G>A	uc001yuc.1	+	6	1579	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.V200I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCTTCTAATGGTCTTCAACAG	0.522													A	22383070	G	A	22383070	3	1	60	1	0	0	0	0	1	0	0	0	11078	1261	44	3	600	3	OR4N4	15	22383070	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		22383070	80148322	78	3895											
SYNM	23336	broad.mit.edu	37	15	99672043	99672043	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr15:99672043C>A	uc002bup.3	+	4	3595	c.3475C>A	c.(3475-3477)Cag>Aag	p.Q1159K	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1160	Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGACCTAAGTCAGGCAGCGAG	0.587													A	99672043	C	A	99672043	3	1	60	1	0	0	0	0	1	0	0	0	15452	827	29	5	3491	5	SYNM	15	99672043	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	77288973	99672043	2859349	79	3896											
ERN2	10595	broad.mit.edu	37	16	23718180	23718180	+	Missense_Mutation	SNP	G	G	A	rs148177655	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr16:23718180G>A	uc002dma.4	-	5	695	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ERN2_uc010bxp.3_Missense_Mutation_p.R176W|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	128					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGCTTCCGGCCTGTGGAG	0.592													A	23718180	G	A	23718180	3	1	60	1	0	0	0	0	1	0	0	0	5238	1115	39	2	2466	2	ERN2	16	23718180	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		23718180	66636573	80	3897											
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	60	1	0	0	0	0	1	0	0	0	16378	1464	51	4	762	4	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08		7578394	73616816	81	3898											
ZNF286B	729288	broad.mit.edu	37	17	18566092	18566093	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr17:18566092_18566093insT	uc010vyd.1	-	4	977_978	c.726_727insA	c.(724-729)aaacctfs	p.K242fs		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						CATTTATGAGGTTTTTTCTCTT	0.366													T	18566093	-	T	18566092	7	5	60	1	0	1	1	0	0	0	0	0	17821	1261	44	0	845	0	ZNF286B	17	18566092	Frame_Shift_Ins	INS	-	TCGA-06-0744-01A-01W-0348-08	10987698	18566092	62629118	82	3899											
LAMA1	284217	broad.mit.edu	37	18	7037694	7037694	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:7037694C>T	uc002knm.3	-	11	1714	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	LAMA1_uc010wzj.2_Silent_p.P16P	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	540	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.I539M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGCTGAGACGGGATCTTCC	0.507													T	7037694	C	T	7037694	2	4	60	1	0	0	0	0	0	0	0	1	8605	523	19	1		1	LAMA1	18	7037694	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08		7037694	71039554	83	3900											
SIGLEC15	284266	broad.mit.edu	37	18	43418924	43418924	+	Silent	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:43418924C>T	uc002lbl.1	+	3	887	c.738C>T	c.(736-738)tcC>tcT	p.S246S	SIGLEC15_uc010xcp.1_Non-coding_Transcript	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 15 (SIGLEC15), mRNA.	246	Ig-like C2-type.					integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TGGGCCGCTCCGAGGCCAGCG	0.711													T	43418924	C	T	43418924	2	4	60	1	0	0	0	0	0	0	0	1	14310	639	23	2		2	SIGLEC15	18	43418924	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	36381230	43418924	34658324	84	3901											
HDHD2	84064	broad.mit.edu	37	18	44635107	44635110	+	Frame_Shift_Del	DEL	TAAG	TAAG	-			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:44635107_44635110delTAAG	uc002lcs.3	-	6	856_859	c.723_726delCTTA	c.(721-726)tacttafs	p.Y241fs	HDHD2_uc002lct.3_Frame_Shift_Del_p.Y151fs	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	241							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TCTCACAAGTTAAGTAAGGAGGTG	0.407													-	44635110	TAAG	-	44635107	7	5	60	1	0	1	0	1	0	0	0	0	7023	1751	61	0	57	0	HDHD2	18	44635107	Frame_Shift_Del	DEL	TAAG	TCGA-06-0744-01A-01W-0348-08	1216183	44635107	33442141	85	3902											
SERPINB3	6318	broad.mit.edu	37	18	61307011	61307011	+	Splice_Site	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:61307011C>T	uc002ljf.3	-	6	556	c.470_splice	c.e6-1	p.E157_splice	SERPINB3_uc002lje.3_Splice_Site_p.E157_splice|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	157					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTAATTTTTTCTGCAAGGGAA	0.373													T	61307011	C	T	61307011	5	4	60	1	0	0	0	0	0	0	1	0	14102	927	32	3		3	SERPINB3	18	61307011	Splice_Site	SNP	C	TCGA-06-0744-01A-01W-0348-08	16671904	61307011	16770237	86	3903											
ZNF493	284443	broad.mit.edu	37	19	21606942	21606942	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:21606942G>A	uc002npw.3	+	3	1600	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	ZNF493_uc002npx.3_Missense_Mutation_p.C366Y|ZNF493_uc002npy.3_Missense_Mutation_p.C366Y|ZNF493_uc021urq.1_Missense_Mutation_p.C366Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						TGTGAAGAATGTGGCAAAGCT	0.328													A	21606942	G	A	21606942	3	1	60	1	0	0	0	0	1	0	0	0	17941	1377	48	3	1558	3	ZNF493	19	21606942	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		21606942	37522041	87	3904											
ZNF99	7652	broad.mit.edu	37	19	22941129	22941129	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:22941129T>G	uc021urt.1	-	3	1737	c.1582A>C	c.(1582-1584)Aag>Cag	p.K528Q		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											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)				TGAATTATCTTATGTTTTCTA	0.333													G	22941129	T	G	22941129	3	3	60	1	0	0	0	0	1	0	0	0	18201	1763	61	5	1815	5	ZNF99	19	22941129	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	1334187	22941129	36187854	88	3905			1	10		2	2	26	N	T_C	7.752457e-05
ZNF99	7652	broad.mit.edu	37	19	22941154	22941154	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:22941154C>G	uc021urt.1	-	3	1712	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.R518T(1)		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)				CTGAGAAATGCTTAAAAGCTT	0.353													G	22941154	C	G	22941154	3	3	60	1	0	0	0	0	1	0	0	0	18201	796	28	5	1840	5	ZNF99	19	22941154	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	25	22941154	36187829	89	3906			1	10		2	2	26	N	T_C	7.752457e-05
CCDC8	83987	broad.mit.edu	37	19	46914965	46914965	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:46914965C>T	uc002pep.3	-	0	1955	c.1103G>A	c.(1102-1104)aGg>aAg	p.R368K		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	368						plasma membrane				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)		GGCCTCTGCCCTCTGATTATC	0.612													T	46914965	C	T	46914965	3	4	60	1	0	0	0	0	1	0	0	0	2853	681	24	3	517	3	CCDC8	19	46914965	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	23973811	46914965	12214018	90	3907											
A1BG	1	broad.mit.edu	37	19	58863692	58863692	+	Silent	SNP	G	G	A	rs138577019		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:58863692G>A	uc002qsd.4	-	3	632	c.570C>T	c.(568-570)ggC>ggT	p.G190G	A1BG-AS1_uc002qse.3_Intron|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_Non-coding_Transcript	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	190	Ig-like V-type 2.					extracellular region		p.G190G(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CAGAGAGGGCGCCTTCCCCAT	0.622													A	58863692	G	A	58863692	2	1	60	1	0	0	0	0	0	0	0	1	1	1074	38	1		1	A1BG	19	58863692	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	11948727	58863692	265291	91	3908											
VPS16	64601	broad.mit.edu	37	20	2846921	2846921	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:2846921G>A	uc002whe.3	+	22	2383	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M	PTPRA_uc002whj.3_Intron|VPS16_uc002whf.3_Missense_Mutation_p.V635M|VPS16_uc002whg.3_Missense_Mutation_p.V465M	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	779					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGCTTCCCGCGTGGGTCCCGA	0.552													A	2846921	G	A	2846921	3	1	60	1	0	0	0	0	1	0	0	0	17190	1145	40	1	2425	1	VPS16	20	2846921	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		2846921	60178599	92	3909											
RALGAPA2	57186	broad.mit.edu	37	20	20475882	20475882	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:20475882C>A	uc002wrz.3	-	35	5389	c.5246G>T	c.(5245-5247)tGg>tTg	p.W1749L	RALGAPA2_uc002wry.3_Missense_Mutation_p.W1364L|RALGAPA2_uc010zsg.2_Missense_Mutation_p.W1197L|RALGAPA2_uc002wsa.1_Missense_Mutation_p.W521L	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1749	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGTTCAGACCAGACGATATG	0.438													A	20475882	C	A	20475882	3	1	60	1	0	0	0	0	1	0	0	0	13014	595	21	5	391	5	RALGAPA2	20	20475882	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	17628961	20475882	42549638	93	3910											
CHRNA4	1137	broad.mit.edu	37	20	61978100	61978100	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:61978100C>T	uc002yes.2	-	5	2052	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	CHRNA4_uc002yet.1_Missense_Mutation_p.G449D|CHRNA4_uc010gke.1_Missense_Mutation_p.G554D|CHRNA4_uc002yev.1_Missense_Mutation_p.G449D|CHRNA4_uc010gkf.1_Missense_Mutation_p.G449D	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	625					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CTAGATCATGCCAGCCAGCCA	0.677													T	61978100	C	T	61978100	3	4	60	1	0	0	0	0	1	0	0	0	3385	739	26	3	13	3	CHRNA4	20	61978100	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	41502218	61978100	1047420	94	3911											
RFPL2	10739	broad.mit.edu	37	22	32589175	32589175	+	Silent	SNP	G	G	A			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr22:32589175G>A	uc003amg.3	-	3	1206	c.270C>T	c.(268-270)gaC>gaT	p.D90D	RFPL2_uc003ame.3_Silent_p.D29D|RFPL2_uc003amf.3_5'UTR|RFPL2_uc003amh.3_5'UTR	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	90							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTGCAGCCATGTCCACTGCCA	0.478													A	32589175	G	A	32589175	2	1	60	1	0	0	0	0	0	0	0	1	13254	1368	48	3		3	RFPL2	22	32589175	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08		32589175	18715391	95	3912											
CXorf57	55086	broad.mit.edu	37	X	105881005	105881005	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chrX:105881005C>T	uc004emi.4	+	7	1575	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	CXorf57_uc004emj.4_Missense_Mutation_p.P475L|CXorf57_uc004emh.2_Missense_Mutation_p.P475L|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	475										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGAGGCCAGCCGTATACGTAT	0.368													T	105881005	C	T	105881005	3	4	60	1	0	0	0	0	1	0	0	0	4113	652	23	2	1454	2	CXorf57	23	105881005	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08		105881005	49389555	96	3913											
PTCHD2	57540	broad.mit.edu	37	1	11596726	11596726	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:11596726G>T	uc001ash.4	+	20	4300	c.4162G>T	c.(4162-4164)Gca>Tca	p.A1388S		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1388					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCCCTGCCCGCAGGGGCCTC	0.662													T	11596726	G	T	11596726	3	4	61	1	0	0	0	0	1	0	0	0	12733	1087	38	5	4240	5	PTCHD2	1	11596726	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		11596726	237653895	1	3914											
RYR2	6262	broad.mit.edu	37	1	237948008	237948008	+	Silent	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:237948008C>G	uc001hyl.1	+	89	13116	c.12996C>G	c.(12994-12996)gcC>gcG	p.A4332A	RYR2_uc010pya.2_Silent_p.A747A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4332					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.M4332I(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)			AACTGTTAGCCAACATGCCAG	0.557													G	237948008	C	G	237948008	2	3	61	1	0	0	0	0	0	0	0	1	13769	581	21	5		5	RYR2	1	237948008	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08	226351282	237948008	11302613	2	3915											
SMYD3	64754	broad.mit.edu	37	1	246027126	246027126	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:246027126T>G	uc001ibl.3	-	8	1001	c.876A>C	c.(874-876)aaA>aaC	p.K292N	SMYD3_uc001ibk.3_Missense_Mutation_p.K233N|SMYD3_uc001ibj.3_Missense_Mutation_p.K103N	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	292						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GTTCTTCAATTTTTTTCAGGG	0.423													G	246027126	T	G	246027126	3	3	61	1	0	0	0	0	1	0	0	0	14823	1838	64	5	426	5	SMYD3	1	246027126	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	8079118	246027126	3223495	3	3916											
MYT1L	23040	broad.mit.edu	37	2	1812887	1812887	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:1812887C>T	uc002qxe.3	-	21	3960	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R	MYT1L_uc002qxd.3_Missense_Mutation_p.G1043R|MYT1L_uc010ewk.3_Missense_Mutation_p.G41R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1045					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCTGCTCTCCAGAAAGCTTT	0.592													T	1812887	C	T	1812887	3	4	61	1	0	0	0	0	1	0	0	0	10107	603	21	3	443	3	MYT1L	2	1812887	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		1812887	241386486	4	3917											
LCT	3938	broad.mit.edu	37	2	136570155	136570155	+	Silent	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:136570155G>A	uc002tuu.1	-	6	2090	c.2079C>T	c.(2077-2079)aaC>aaT	p.N693N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	693	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTGTGGGGCGTTGCTGATGA	0.547													A	136570155	G	A	136570155	2	1	61	1	0	0	0	0	0	0	0	1	8693	1136	40	1		1	LCT	2	136570155	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08	134757268	136570155	106629218	5	3918											
OR5K4	403278	broad.mit.edu	37	3	98072858	98072858	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:98072858G>A	uc011bgv.2	+	0	161	c.161G>A	c.(160-162)cGt>cAt	p.R54H		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTAGAGCGTCGTCTTCTCACA	0.473													A	98072858	G	A	98072858	3	1	61	1	0	0	0	0	1	0	0	0	11169	1145	40	1	163	1	OR5K4	3	98072858	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		98072858	99949572	6	3919											
FSTL1	11167	broad.mit.edu	37	3	120122088	120122088	+	Splice_Site	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:120122088C>T	uc003eds.3	-	8	869	c.694_splice	c.e8+1	p.K232_splice	FSTL1_uc011bjh.2_Splice_Site_p.K197_splice	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	232					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GTTAGGCATACTCTTCTCAGG	0.443													T	120122088	C	T	120122088	5	4	61	1	0	0	0	0	0	0	1	0	6077	579	20	3	247	3	FSTL1	3	120122088	Splice_Site	SNP	C	TCGA-06-0745-01A-01W-0348-08	22049230	120122088	77900342	7	3920											
CSN1S1	1446	broad.mit.edu	37	4	70810645	70810645	+	Silent	SNP	T	T	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:70810645T>C	uc003hep.1	+	14	529	c.480T>C	c.(478-480)ccT>ccC	p.P160P	CSN1S1_uc003heq.1_Silent_p.P151P|CSN1S1_uc003her.1_Silent_p.P152P	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	160						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						AGTATGTTCCTTTCCCACCGT	0.403													C	70810645	T	C	70810645	2	2	61	1	0	0	0	0	0	0	0	1	3947	1596	56	4		4	CSN1S1	4	70810645	Silent	SNP	T	TCGA-06-0745-01A-01W-0348-08		70810645	120343631	8	3921											
SEC31A	22872	broad.mit.edu	37	4	83785658	83785658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:83785658G>A	uc003hnh.3	-	10	1471	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*	SEC31A_uc003hne.3_Nonsense_Mutation_p.Q203*|SEC31A_uc011ccl.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnl.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hng.3_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccm.2_Nonsense_Mutation_p.Q426*|SEC31A_uc003hni.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnk.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnf.3_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccn.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnm.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnn.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hno.3_Nonsense_Mutation_p.Q431*	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	431	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTACAACCTGACTAATGAAC	0.438													A	83785658	G	A	83785658	4	1	61	1	0	0	0	0	0	1	0	0	13998	1299	45	3	2439	3	SEC31A	4	83785658	Nonsense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	12975013	83785658	107368618	9	3922											
MAST4	375449	broad.mit.edu	37	5	66416900	66416900	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:66416900C>T	uc021xzk.1	+	13	2023	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M	MAST4_uc003jut.2_Missense_Mutation_p.T383M|MAST4_uc003juu.1_Missense_Mutation_p.T393M|MAST4_uc011cra.1_Missense_Mutation_p.T366M|MAST4_uc003juv.2_Missense_Mutation_p.T378M|MAST4_uc003juw.3_Missense_Mutation_p.T378M	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	575						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			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)		GATTTTGAAACGATTAAATTG	0.328													T	66416900	C	T	66416900	3	4	61	1	0	0	0	0	1	0	0	0	9327	536	19	1	1899	1	MAST4	5	66416900	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		66416900	114498360	10	3923											
GPR98	84059	broad.mit.edu	37	5	89981650	89981650	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:89981650A>G	uc003kju.3	+	28	6424	c.6328A>G	c.(6328-6330)Atc>Gtc	p.I2110V	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2110					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCAACTAATTATCATTGCCAA	0.413													G	89981650	A	G	89981650	3	3	61	1	0	0	0	0	1	0	0	0	6721	449	16	4	6442	4	GPR98	5	89981650	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08	23564750	89981650	90933610	11	3924											
PCDHB3	56132	broad.mit.edu	37	5	140481632	140481632	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140481632G>A	uc003lio.3	+	0	1399	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	467	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P466H(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)			CAACAGCCCCGCCCTGCACAT	0.622													A	140481632	G	A	140481632	3	1	61	1	0	0	0	0	1	0	0	0	11543	1087	38	1	1401	1	PCDHB3	5	140481632	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	50499982	140481632	40433628	12	3925											
PCDHB13	56123	broad.mit.edu	37	5	140595599	140595599	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140595599C>T	uc003lja.1	+	0	2091	c.1904C>T	c.(1903-1905)gCg>gTg	p.A635V		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	635	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGCGACGCGGCCAAGCAC	0.692													T	140595599	C	T	140595599	3	4	61	1	0	0	0	0	1	0	0	0	11538	768	27	1	1906	1	PCDHB13	5	140595599	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	113967	140595599	40319661	13	3926											
SNX9	51429	broad.mit.edu	37	6	158342573	158342573	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr6:158342573A>T	uc003qqv.1	+	9	1133	c.960A>T	c.(958-960)gaA>gaT	p.E320D		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	320	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GCCGCTTTGAAGAGGAATTTA	0.423													T	158342573	A	T	158342573	3	4	61	1	0	0	0	0	1	0	0	0	14909	69	3	5	998	5	SNX9	6	158342573	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08		158342573	12772494	14	3927											
FTSJ2	29960	broad.mit.edu	37	7	2281798	2281798	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:2281798C>T	uc003slm.3	-	1	37	c.8_splice	c.e1+1	p.G3_splice	FTSJ2_uc003sln.3_Splice_Site|FTSJ2_uc003slo.3_Splice_Site|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank|NUDT1_uc003slu.1_5'Flank|NUDT1_uc003slv.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	3					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			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)		CCAGCTCACCCCGCCATTGGT	0.736													T	2281798	C	T	2281798	3	4	61	1	0	0	0	0	1	0	0	0	6088	637	22	3	745	3	FTSJ2	7	2281798	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		2281798	156856865	15	3928											
COL28A1	340267	broad.mit.edu	37	7	7412882	7412882	+	Silent	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:7412882G>A	uc003src.1	-	31	2772	c.2655C>T	c.(2653-2655)aaC>aaT	p.N885N	COL28A1_uc011jxe.1_Silent_p.N568N	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	885	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CAAACATGTCGTTGGCTGCTT	0.488													A	7412882	G	A	7412882	2	1	61	1	0	0	0	0	0	0	0	1	3686	1136	40	1		1	COL28A1	7	7412882	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08	5131084	7412882	151725781	16	3929											
ABCB1	5243	broad.mit.edu	37	7	87190619	87190619	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:87190619T>A	uc003uiz.2	-	8	1280	c.787A>T	c.(787-789)Act>Tct	p.T263S	ABCB1_uc011khc.2_Missense_Mutation_p.T199S	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	263	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCAATCACAGTTCTAATTGCT	0.343													A	87190619	T	A	87190619	3	1	61	1	0	0	0	0	1	0	0	0	40	1725	60	5	3139	5	ABCB1	7	87190619	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	79777737	87190619	71948044	17	3930											
DLD	1738	broad.mit.edu	37	7	107557761	107557761	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:107557761C>T	uc003vet.3	+	10	1200	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	DLD_uc011kmg.2_Missense_Mutation_p.H316Y|DLD_uc011kmh.2_Missense_Mutation_p.H341Y|DLD_uc011kmi.2_Missense_Mutation_p.H265Y	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	364					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AATGCTGGCTCACAAAGCAGA	0.428													T	107557761	C	T	107557761	3	4	61	1	0	0	0	0	1	0	0	0	4551	826	29	3	1132	3	DLD	7	107557761	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	20367142	107557761	51580902	18	3931											
TFEC	22797	broad.mit.edu	37	7	115582025	115582025	+	Silent	SNP	T	T	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:115582025T>C	uc003vhj.2	-	6	838	c.585A>G	c.(583-585)gaA>gaG	p.E195E	TFEC_uc003vhm.2_Silent_p.E128E|TFEC_uc003vhk.2_Silent_p.E166E|TFEC_uc003vhl.4_Silent_p.E166E|TFEC_uc011kmw.2_Silent_p.E285E	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTCTCTGTTGTTCTTTTTGTA	0.408													C	115582025	T	C	115582025	2	2	61	1	0	0	0	0	0	0	0	1	15799	1722	60	4		4	TFEC	7	115582025	Silent	SNP	T	TCGA-06-0745-01A-01W-0348-08	8024264	115582025	43556638	19	3932											
MYOM2	9172	broad.mit.edu	37	8	2092880	2092880	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:2092880C>T	uc003wpx.4	+	36	4511	c.4373C>T	c.(4372-4374)gCg>gTg	p.A1458V	MYOM2_uc011kwi.2_Missense_Mutation_p.A883V	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1458					muscle contraction	myosin filament	structural constituent of muscle	p.P1457P(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCATCCCCGCGTCTGCCTCA	0.587													T	2092880	C	T	2092880	3	4	61	1	0	0	0	0	1	0	0	0	10092	768	27	1	4515	1	MYOM2	8	2092880	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		2092880	144271142	20	3933											
RB1CC1	9821	broad.mit.edu	37	8	53573548	53573548	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:53573548T>C	uc003xre.4	-	10	2123	c.1565A>G	c.(1564-1566)aAa>aGa	p.K522R	RB1CC1_uc003xrf.4_Missense_Mutation_p.K522R	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	522					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.K522K(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTTTCCATCTTTGACTAAAGC	0.284													C	53573548	T	C	53573548	3	2	61	1	0	0	0	0	1	0	0	0	13099	1841	64	4	3275	4	RB1CC1	8	53573548	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	51480668	53573548	92790474	21	3934											
C8orf34	116328	broad.mit.edu	37	8	69381052	69381052	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:69381052C>T	uc010lyz.3	+	3	1024	c.733C>T	c.(733-735)Cga>Tga	p.R245*	C8orf34_uc010lyy.2_Nonsense_Mutation_p.R245*|C8orf34_uc003xyb.3_Nonsense_Mutation_p.R134*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	159					signal transduction		cAMP-dependent protein kinase regulator activity	p.E245Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GAATCTCTCTCGAAGTAAGTT	0.393													T	69381052	C	T	69381052	4	4	61	1	0	0	0	0	0	1	0	0	2422	876	31	2	410	2	C8orf34	8	69381052	Nonsense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	15807504	69381052	76982970	22	3935											
FAM135B	51059	broad.mit.edu	37	8	139164211	139164211	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:139164211G>C	uc003yuy.3	-	12	2678	c.2507C>G	c.(2506-2508)gCt>gGt	p.A836G	FAM135B_uc003yux.3_Missense_Mutation_p.A737G|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.A398G|FAM135B_uc003yvb.3_Missense_Mutation_p.A398G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	836										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGGTTGTCAGCATCTAAAAC	0.522										HNSCC(54;0.14)			C	139164211	G	C	139164211	3	2	61	1	0	0	0	0	1	0	0	0	5449	971	34	5	1745	5	FAM135B	8	139164211	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	69783159	139164211	7199811	23	3936											
FAM120A	23196	broad.mit.edu	37	9	96294445	96294445	+	Silent	SNP	C	C	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:96294445C>A	uc004atw.3	+	9	1768	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	FAM120A_uc004atx.3_Silent_p.I363I|FAM120A_uc004aty.3_Silent_p.I362I|FAM120A_uc004atz.3_Silent_p.I230I|FAM120A_uc010mrg.3_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	581						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGGTGAAATCAAAATTGCTG	0.393													A	96294445	C	A	96294445	2	1	61	1	0	0	0	0	0	0	0	1	5415	816	29	5		5	FAM120A	9	96294445	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08		96294445	44918986	24	3937											
QRFP	347148	broad.mit.edu	37	9	133768879	133768879	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:133768879G>A	uc011mcb.2	-	0	347	c.347C>T	c.(346-348)gCt>gTt	p.A116V		NM_198180	NP_937823	P83859	OX26_HUMAN	Homo sapiens pyroglutamylated RFamide peptide (QRFP), mRNA.	116					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding			cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		GAGCTCCTCAGCCAGGTTCCC	0.632													A	133768879	G	A	133768879	3	1	61	1	0	0	0	0	1	0	0	0	12877	971	34	3	66	3	QRFP	9	133768879	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	37474434	133768879	7444552	25	3938											
EGR2	1959	broad.mit.edu	37	10	64574066	64574066	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:64574066C>G	uc010qio.2	-	2	391	c.371G>C	c.(370-372)gGc>gCc	p.G124A	EGR2_uc010qim.2_Missense_Mutation_p.G111A|EGR2_uc010qin.2_Missense_Mutation_p.G61A|EGR2_uc001jmi.3_Missense_Mutation_p.G111A|EGR2_uc009xph.3_Missense_Mutation_p.G111A	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	111					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATTGATTATGCCTTCTGGGTA	0.547													G	64574066	C	G	64574066	3	3	61	1	0	0	0	0	1	0	0	0	4972	739	26	5	1102	5	EGR2	10	64574066	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		64574066	70960681	26	3939											
ATE1	11101	broad.mit.edu	37	10	123683779	123683779	+	Splice_Site	DEL	A	A	-			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:123683779delA	uc001lfp.3	-	2	252	c.170_splice	c.e2+1	p.R57_splice	ATE1_uc001lfq.3_Splice_Site_p.R57_splice|ATE1_uc010qtr.2_Splice_Site|ATE1_uc010qts.2_Intron|ATE1_uc010qtt.2_Splice_Site_p.R50_splice|ATE1_uc001lfr.3_Splice_Site|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	57					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGGAAGCTTTACCTTCGCCAT	0.413													-	123683779	A	-	123683779	8	5	61	1	0	1	0	1	0	0	1	0	1078	405	14	0	1561	0	ATE1	10	123683779	Splice_Site	DEL	A	TCGA-06-0745-01A-01W-0348-08	59109713	123683779	11850968	27	3940											
ART1	417	broad.mit.edu	37	11	3681476	3681476	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:3681476A>T	uc001lye.1	+	2	828	c.727A>T	c.(727-729)Atc>Ttc	p.I243F	ART1_uc009yeb.1_Missense_Mutation_p.I243F	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGAGGTGCTGATCCCCCCCTT	0.607													T	3681476	A	T	3681476	3	4	61	1	0	0	0	0	1	0	0	0	997	333	12	5	733	5	ART1	11	3681476	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08		3681476	131325040	28	3941											
KIF18A	81930	broad.mit.edu	37	11	28058009	28058009	+	Silent	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:28058009C>T	uc001msc.2	-	13	2333	c.2151G>A	c.(2149-2151)ccG>ccA	p.P717P		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	717					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.N716Y(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						TTACTGTAGACGGATTTTGAA	0.363													T	28058009	C	T	28058009	2	4	61	1	0	0	0	0	0	0	0	1	8280	523	19	1		1	KIF18A	11	28058009	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08	24376533	28058009	106948507	29	3942											
AHNAK	79026	broad.mit.edu	37	11	62298733	62298733	+	Silent	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:62298733G>A	uc001ntl.3	-	4	3456	c.3156C>T	c.(3154-3156)ggC>ggT	p.G1052G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1052					nervous system development	nucleus	protein binding	p.K1051K(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAACTTCGGGCCTTTCAACT	0.443													A	62298733	G	A	62298733	2	1	61	1	0	0	0	0	0	0	0	1	414	1190	42	3		3	AHNAK	11	62298733	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08	34240724	62298733	72707783	30	3943											
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:123811134G>A	uc001pzk.1	+	0	811	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V271I(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													A	123811134	G	A	123811134	3	1	61	1	0	0	0	0	1	0	0	0	11057	1145	40	1	813	1	OR4D5	11	123811134	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	61512401	123811134	11195382	31	3944											
KCNC2	3747	broad.mit.edu	37	12	75601564	75601564	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr12:75601564G>A	uc001sxg.1	-	1	744	c.200C>T	c.(199-201)gCg>gTg	p.A67V	KCNC2_uc009zry.3_Missense_Mutation_p.A67V|KCNC2_uc001sxe.3_Missense_Mutation_p.A67V|KCNC2_uc001sxf.3_Missense_Mutation_p.A67V|KCNC2_uc010stw.1_Missense_Mutation_p.A67V	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	67	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						cagcgggggcgctctcggcgg	0.771													A	75601564	G	A	75601564	3	1	61	1	0	0	0	0	1	0	0	0	8015	1087	38	1	1798	1	KCNC2	12	75601564	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		75601564	58250331	32	3945											
MYCBP2	23077	broad.mit.edu	37	13	77835447	77835447	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr13:77835447A>G	uc021rks.1	-	11	1978	c.1711T>C	c.(1711-1713)Tgg>Cgg	p.W571R	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			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)		AGCTCAACCCATTTTCCTGCT	0.378													G	77835447	A	G	77835447	3	3	61	1	0	0	0	0	1	0	0	0	10018	217	8	4	12613	4	MYCBP2	13	77835447	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08		77835447	37334431	33	3946											
AKAP6	9472	broad.mit.edu	37	14	33290671	33290671	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:33290671G>C	uc001wrq.3	+	12	3822	c.3652G>C	c.(3652-3654)Gaa>Caa	p.E1218Q		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1218					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGATGCCCTGGAATGGGATGA	0.393													C	33290671	G	C	33290671	3	2	61	1	0	0	0	0	1	0	0	0	455	1175	41	5	3698	5	AKAP6	14	33290671	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		33290671	74058869	34	3947											
SMEK1	55671	broad.mit.edu	37	14	91937214	91937214	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:91937214G>C	uc001xzn.3	-	9	2449	c.1627C>G	c.(1627-1629)Ctt>Gtt	p.L543V	SMEK1_uc001xzm.3_Missense_Mutation_p.L530V|SMEK1_uc001xzo.3_Missense_Mutation_p.L530V|SMEK1_uc010atz.3_Missense_Mutation_p.L304V|SMEK1_uc001xzp.1_Non-coding_Transcript	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	543						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GAGGCCATAAGAACTAGCACT	0.353													C	91937214	G	C	91937214	3	2	61	1	0	0	0	0	1	0	0	0	14793	942	33	5	898	5	SMEK1	14	91937214	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	58646543	91937214	15412326	35	3948											
TRPM1	4308	broad.mit.edu	37	15	31294188	31294188	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:31294188G>T	uc021sia.1	-	26	5080	c.4766C>A	c.(4765-4767)tCa>tAa	p.S1589*	TRPM1_uc010azy.3_Nonsense_Mutation_p.S1457*|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Nonsense_Mutation_p.S1572*|TRPM1_uc001zfm.3_Nonsense_Mutation_p.S1550*	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1550					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			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)		TAAACTTTTTGACCTGAGAGA	0.428													T	31294188	G	T	31294188	4	4	61	1	0	0	0	0	0	1	0	0	16582	1294	45	5	166	5	TRPM1	15	31294188	Nonsense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		31294188	71237204	36	3949											
SPTBN5	51332	broad.mit.edu	37	15	42178160	42178160	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:42178160G>C	uc001zos.3	-	6	1521	c.1188C>G	c.(1186-1188)ttC>ttG	p.F396L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	431					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTTGTGCTGGAAGCGCCGGG	0.667													C	42178160	G	C	42178160	3	2	61	1	0	0	0	0	1	0	0	0	15121	1165	41	5	9979	5	SPTBN5	15	42178160	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	10883972	42178160	60353232	37	3950											
OR1F1	4992	broad.mit.edu	37	16	3254556	3254556	+	Missense_Mutation	SNP	G	G	A	rs141236935		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:3254556G>A	uc010uwu.2	+	0	310	c.310G>A	c.(310-312)Gtt>Att	p.V104I		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATGTATTTCGTTTTCATGTT	0.498													A	3254556	G	A	3254556	3	1	61	1	0	0	0	0	1	0	0	0	10956	1145	40	1	312	1	OR1F1	16	3254556	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		3254556	87100197	38	3951											
CIITA	4261	broad.mit.edu	37	16	10992859	10992859	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:10992859C>T	uc002daj.4	+	5	572	c.439_splice	c.e5+1	p.P147_splice	CIITA_uc002dai.4_Splice_Site_p.P146_splice|CIITA_uc002dak.4_Splice_Site_p.P146_splice|CIITA_uc002dag.2_Splice_Site_p.P146_splice|CIITA_uc002dah.2_Splice_Site_p.P147_splice|CIITA_uc010bup.1_Splice_Site_p.P146_splice	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	146					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCAGAAAAGACGTGAGTGAGC	0.512			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								T	10992859	C	T	10992859	3	4	61	1	0	0	0	0	1	0	0	0	3428	550	19	1	454	1	CIITA	16	10992859	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	7738303	10992859	79361894	39	3952											
GTF3C1	2975	broad.mit.edu	37	16	27483187	27483187	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:27483187C>G	uc002dov.2	-	29	4448	c.4408G>C	c.(4408-4410)Gag>Cag	p.E1470Q	GTF3C1_uc002dou.3_Missense_Mutation_p.E1470Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1470						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCTGGCACTCCATGAAGGCC	0.617													G	27483187	C	G	27483187	3	3	61	1	0	0	0	0	1	0	0	0	6872	864	30	5	1953	5	GTF3C1	16	27483187	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	16490328	27483187	62871566	40	3953											
CHD9	80205	broad.mit.edu	37	16	53190481	53190481	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:53190481T>A	uc002ehb.3	+	0	644	c.480T>A	c.(478-480)caT>caA	p.H160Q	CHD9_uc002egy.3_Missense_Mutation_p.H160Q|CHD9_uc002egz.1_Missense_Mutation_p.H160Q|CHD9_uc002ehc.3_Missense_Mutation_p.H160Q	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	160					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGGCACACCATGACTTTGCCT	0.388													A	53190481	T	A	53190481	3	1	61	1	0	0	0	0	1	0	0	0	3332	1461	51	5	482	5	CHD9	16	53190481	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	25707294	53190481	37164272	41	3954											
CTU2	348180	broad.mit.edu	37	16	88779258	88779258	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:88779258C>A	uc010chz.3	+	6	943	c.895C>A	c.(895-897)Ctg>Atg	p.L299M	CTU2_uc002flm.3_Missense_Mutation_p.L228M|CTU2_uc002fln.3_Missense_Mutation_p.L228M|CTU2_uc010cia.3_Missense_Mutation_p.L141M	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.	228					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTTCCCAACTGTTCTGCTC	0.677													A	88779258	C	A	88779258	3	1	61	1	0	0	0	0	1	0	0	0	4048	564	20	5	708	5	CTU2	16	88779258	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	35588777	88779258	1575495	42	3955											
ITGB4	3691	broad.mit.edu	37	17	73733432	73733432	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr17:73733432C>T	uc002jpg.3	+	16	2207	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	ITGB4_uc002jph.3_Missense_Mutation_p.R674W|ITGB4_uc010dgo.3_Missense_Mutation_p.R674W|ITGB4_uc002jpi.4_Missense_Mutation_p.R674W|ITGB4_uc010dgp.1_Missense_Mutation_p.R674W|ITGB4_uc002jpj.3_Missense_Mutation_p.R674W	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	674				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345).	cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCTCCTTCCGGGACGAGGA	0.652													T	73733432	C	T	73733432	3	4	61	1	0	0	0	0	1	0	0	0	7897	643	23	2	2082	2	ITGB4	17	73733432	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		73733432	7461778	43	3956											
BCL2	596	broad.mit.edu	37	18	60985794	60985796	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr18:60985794_60985796delCCA	uc002lit.1	-	1	597_599	c.104_106delTGG	c.(103-108)gtgggc>ggc	p.V35del	BCL2_uc002liu.1_In_Frame_Del_p.V35del|BCL2_uc002liv.1_In_Frame_Del_p.V35del|BCL2_uc021ulf.1_In_Frame_Del_p.V35del	NM_000633	NP_000624	P10415	BCL2_HUMAN	Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	35		Cleavage; by caspase-3.			activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	p.V35M(1)|p.D34G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ggcgcggcgcccACATCTCCCGC	0.68			T	IGH@	"NHL, CLL"								-	60985796	CCA	-	60985794	7	5	61	1	0	1	0	1	0	0	0	0	1365	623	22	0	654	0	BCL2	18	60985794	In_Frame_Del	DEL	CCA	TCGA-06-0745-01A-01W-0348-08		60985794	17091454	44	3957											
C3	718	broad.mit.edu	37	19	6714208	6714208	+	Silent	SNP	G	G	C			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:6714208G>C	uc002mfm.3	-	5	713	c.651C>G	c.(649-651)gtC>gtG	p.V217V		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	217					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGTGGAGAAGACCTGCTGTG	0.632													C	6714208	G	C	6714208	2	2	61	1	0	0	0	0	0	0	0	1	2204	929	33	5		5	C3	19	6714208	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08		6714208	52414775	45	3958											
MUC16	94025	broad.mit.edu	37	19	9072189	9072189	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:9072189C>T	uc002mkp.3	-	2	15461	c.15257G>A	c.(15256-15258)cGc>cAc	p.R5086H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5088	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R5086L(3)|p.R719L(1)		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						AGGTTCCAAGCGTGTACGTAA	0.433													T	9072189	C	T	9072189	3	4	61	1	0	0	0	0	1	0	0	0	9973	768	27	1	28594	1	MUC16	19	9072189	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	2357981	9072189	50056794	46	3959											
ZNF844	284391	broad.mit.edu	37	19	12187210	12187210	+	Silent	SNP	A	A	G	rs6511764	by1000genomes	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:12187210A>G	uc002mtb.2	+	3	1418	c.1275A>G	c.(1273-1275)gtA>gtG	p.V425V	ZNF844_uc010dym.1_Silent_p.V268V	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAGCAGTGTAGTAAAGCCTT	0.428													G	12187210	A	G	12187210	2	3	61	1	0	0	0	0	0	0	0	1	18187	407	15	4		4	ZNF844	19	12187210	Silent	SNP	A	TCGA-06-0745-01A-01W-0348-08	3115021	12187210	46941773	47	3960											
ZNF813	126017	broad.mit.edu	37	19	53995161	53995161	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:53995161G>A	uc021uzf.1	+	0					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.V559I	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATGTGGCAAGGTTTTTAATCA	0.363													A	53995161	G	A	53995161	3	1	61	1	0	0	0	0	1	0	0	0	18172	1261	44	3	1685	3	ZNF813	19	53995161	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	41807951	53995161	5133822	48	3961											
SLC17A9	63910	broad.mit.edu	37	20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr20:61596986G>A	uc002yea.4	+	9	1154	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_uc002ydz.4_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	324					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.V324I(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652													A	61596986	G	A	61596986	3	1	61	1	0	0	0	0	1	0	0	0	14424	1145	40	1	1008	1	SLC17A9	20	61596986	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		61596986	1428534	49	3962											
RGL4	266747	broad.mit.edu	37	22	24040417	24040417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:24040417G>T	uc002zxo.3	+	9	2536	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Nonsense_Mutation_p.E427*|RGL4_uc002zxp.1_Nonsense_Mutation_p.E291*|RGL4_uc002zxq.3_Nonsense_Mutation_p.E291*			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	427	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						AGTTCTGCAGGAAATGCAGCT	0.547													T	24040417	G	T	24040417	4	4	61	1	0	0	0	0	0	1	0	0	13279	1175	41	5	1317	5	RGL4	22	24040417	Nonsense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		24040417	27264149	50	3963											
CHEK2	11200	broad.mit.edu	37	22	29130518	29130518	+	Silent	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:29130518C>T	uc003adu.1	-	1	264	c.192G>A	c.(190-192)gaG>gaA	p.E64E	CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Silent_p.E64E|CHEK2_uc010gvi.1_Silent_p.E64E|CHEK2_uc003adt.1_Silent_p.E64E|CHEK2_uc003adv.1_Silent_p.E64E|CHEK2_uc003adx.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	64			E -> K (in prostate cancer; somatic mutation).		cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGGACACTGTCTCTAAGGAGC	0.567			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					T	29130518	C	T	29130518	2	4	61	1	0	0	0	0	0	0	0	1	3335	912	32	3		3	CHEK2	22	29130518	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08	5090101	29130518	22174048	51	3964											
SBF1	6305	broad.mit.edu	37	22	50901747	50901747	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:50901747C>G	uc003blh.3	-	15	2059	c.1864G>C	c.(1864-1866)Gac>Cac	p.D622H	SBF1_uc011arx.2_Missense_Mutation_p.D286H|SBF1_uc003bli.2_Missense_Mutation_p.D623H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	622					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGACAAAGTCAAACTGCTGG	0.632													G	50901747	C	G	50901747	3	3	61	1	0	0	0	0	1	0	0	0	13858	826	29	5	3921	5	SBF1	22	50901747	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	21771229	50901747	402819	52	3965											
MXRA5	25878	broad.mit.edu	37	X	3239887	3239887	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:3239887C>T	uc004crg.4	-	4	3996	c.3839G>A	c.(3838-3840)aGa>aAa	p.R1280K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1280						extracellular region				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)				AGAAACAGTTCTAGGCAAAAG	0.408													T	3239887	C	T	3239887	3	4	61	1	0	0	0	0	1	0	0	0	10003	913	32	3	4659	3	MXRA5	23	3239887	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		3239887	152030673	53	3966											
ZXDB	158586	broad.mit.edu	37	X	57619132	57619132	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:57619132T>A	uc004dvd.3	+	0	864	c.651T>A	c.(649-651)caT>caA	p.H217Q		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.H217Q(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GGTTCCCGCATGCCGCGCACC	0.746													A	57619132	T	A	57619132	3	1	61	1	0	0	0	0	1	0	0	0	18248	1461	51	5	653	5	ZXDB	23	57619132	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	54379245	57619132	97651428	54	3967											
CHM	1121	broad.mit.edu	37	X	85218739	85218739	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:85218739C>A	uc004eet.3	-	4	663	c.633G>T	c.(631-633)aaG>aaT	p.K211N	CHM_uc011mqz.2_Missense_Mutation_p.K63N	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	211					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTCTGTTTTTCTTTGGTTGCT	0.333													A	85218739	C	A	85218739	3	1	61	1	0	0	0	0	1	0	0	0	3350	912	32	5	1372	5	CHM	23	85218739	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	27599607	85218739	70051821	55	3968											
PCDH11X	27328	broad.mit.edu	37	X	91090731	91090731	+	Silent	SNP	A	A	T			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:91090731A>T	uc004efk.2	+	0	1073	c.228A>T	c.(226-228)cgA>cgT	p.R76R	PCDH11X_uc004efl.2_Silent_p.R76R|PCDH11X_uc010nmv.2_Silent_p.R76R|PCDH11X_uc004efm.2_Silent_p.R76R|PCDH11X_uc004efn.2_Silent_p.R76R|PCDH11X_uc004efo.2_Silent_p.R76R|PCDH11X_uc004efh.2_Silent_p.R76R|PCDH11X_uc004efj.1_Silent_p.R76R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	76	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						CACTGATTCGAATTGAAGAGG	0.443													T	91090731	A	T	91090731	2	4	61	1	0	0	0	0	0	0	0	1	11508	233	9	5		5	PCDH11X	23	91090731	Silent	SNP	A	TCGA-06-0745-01A-01W-0348-08	5871992	91090731	64179829	56	3969											
MTOR	2475	broad.mit.edu	37	1	11217231	11217231	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:11217231A>G	uc001asd.3	-	29	4568	c.4447T>C	c.(4447-4449)Tgc>Cgc	p.C1483R		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1483	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.C1483F(2)|p.C1483Y(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCCTCGAGGCAGCGCATGCGG	0.527													G	11217231	A	G	11217231	3	3	62	1	0	0	0	0	1	0	0	0	9954	188	7	4	3318	4	MTOR	1	11217231	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08		11217231	238033390	1	3970											
KIF17	57576	broad.mit.edu	37	1	21031072	21031072	+	Missense_Mutation	SNP	G	G	A	rs139912475		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:21031072G>A	uc001bdr.4	-	4	1109	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	KIF17_uc001bds.4_Missense_Mutation_p.R331W	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	331					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTCTTGGCCCGGTTGGCGTAG	0.597													A	21031072	G	A	21031072	3	1	62	1	0	0	0	0	1	0	0	0	8279	1115	39	2	2142	2	KIF17	1	21031072	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	9813841	21031072	228219549	2	3971											
ELTD1	64123	broad.mit.edu	37	1	79412033	79412033	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:79412033C>G	uc001diq.4	-	2	407	c.251G>C	c.(250-252)tGt>tCt	p.C84S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	84	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.C84Y(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACACACATACAATAATAACT	0.363													G	79412033	C	G	79412033	3	3	62	1	0	0	0	0	1	0	0	0	5084	478	17	5	1873	5	ELTD1	1	79412033	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	58380961	79412033	169838588	3	3972											
ABCA4	24	broad.mit.edu	37	1	94543367	94543367	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:94543367A>T	uc001dqh.3	-	10	1537	c.1433T>A	c.(1432-1434)aTc>aAc	p.I478N	ABCA4_uc010otn.1_Missense_Mutation_p.I478N	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	478					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAAGTTTAGGATGGCTTCAGC	0.493													T	94543367	A	T	94543367	3	4	62	1	0	0	0	0	1	0	0	0	34	333	12	5	5548	5	ABCA4	1	94543367	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	15131334	94543367	154707254	4	3973											
ATP1A2	477	broad.mit.edu	37	1	160106156	160106156	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:160106156G>C	uc001fvc.3	+	17	2691	c.2559G>C	c.(2557-2559)caG>caC	p.Q853H	ATP1A2_uc001fvb.2_Missense_Mutation_p.Q853H|ATP1A2_uc001fvd.3_Missense_Mutation_p.Q589H	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	853					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTACGGACAGATCGGTGCGC	0.577													C	160106156	G	C	160106156	3	2	62	1	0	0	0	0	1	0	0	0	1129	933	33	5	2629	5	ATP1A2	1	160106156	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	65562789	160106156	89144465	5	3974											
DUSP27	92235	broad.mit.edu	37	1	167064116	167064116	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:167064116G>A	uc001geb.1	+	0	46	c.30G>A	c.(28-30)gaG>gaA	p.E10E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	10					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGAGGAGGAGCAGGTAGTCC	0.547													A	167064116	G	A	167064116	2	1	62	1	0	0	0	0	0	0	0	1	4824	962	34	3		3	DUSP27	1	167064116	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	6957960	167064116	82186505	6	3975											
DUSP27	92235	broad.mit.edu	37	1	167095182	167095182	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:167095182C>T	uc001geb.1	+	4	830	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	272					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGCAGCTGCGGGAGCTCAA	0.582													T	167095182	C	T	167095182	3	4	62	1	0	0	0	0	1	0	0	0	4824	759	27	1	832	1	DUSP27	1	167095182	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	31066	167095182	82155439	7	3976											
NLRP3	114548	broad.mit.edu	37	1	247587535	247587535	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:247587535G>T	uc001icr.3	+	4	928	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L	NLRP3_uc001ics.3_Missense_Mutation_p.V264L|NLRP3_uc001icu.3_Missense_Mutation_p.V264L|NLRP3_uc001icw.3_Missense_Mutation_p.V264L|NLRP3_uc001icv.3_Missense_Mutation_p.V264L|NLRP3_uc010pyw.2_Missense_Mutation_p.V262L|NLRP3_uc001ict.1_Missense_Mutation_p.V262L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	264	NACHT.				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			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)			CTGTCGAGAGGTGAGCCTTGT	0.537													T	247587535	G	T	247587535	3	4	62	1	0	0	0	0	1	0	0	0	10478	1261	44	5	800	5	NLRP3	1	247587535	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	80492353	247587535	1663086	8	3977											
SLC9A4	389015	broad.mit.edu	37	2	103095456	103095456	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:103095456G>A	uc002tbz.4	+	1	872	c.415G>A	c.(415-417)Gtt>Att	p.V139I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	139					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCACCCATCGTTCTGGAGGG	0.617													A	103095456	G	A	103095456	3	1	62	1	0	0	0	0	1	0	0	0	14716	1145	40	1	421	1	SLC9A4	2	103095456	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		103095456	140103917	9	3978											
ANAPC1	64682	broad.mit.edu	37	2	112541977	112541977	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:112541977C>T	uc002thi.3	-	41	5165	c.4918_splice	c.e41-1	p.G1640_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1640					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CACTGAGTGCCCTTTACAAAT	0.458													T	112541977	C	T	112541977	3	4	62	1	0	0	0	0	1	0	0	0	598	637	22	3	948	3	ANAPC1	2	112541977	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	9446521	112541977	130657396	10	3979											
TTN	7273	broad.mit.edu	37	2	179542530	179542530	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:179542530A>G	uc021vsy.1	-	142	30602	c.30377T>C	c.(30376-30378)gTt>gCt	p.V10126A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6787A|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11053	Glu-rich.						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)			CTCAGGTAGAACTTCCTCTTC	0.448													G	179542530	A	G	179542530	3	3	62	1	0	0	0	0	1	0	0	0	16732	43	2	4	70288	4	TTN	2	179542530	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	67000553	179542530	63656843	11	3980											
ALPI	248	broad.mit.edu	37	2	233323014	233323014	+	Missense_Mutation	SNP	C	C	T	rs146257849	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:233323014C>T	uc002vst.4	+	8	1156	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	ALPI_uc002vsu.4_Missense_Mutation_p.A271V	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	360					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATTGAGAGGGCGGGCCAGCTC	0.627													T	233323014	C	T	233323014	3	4	62	1	0	0	0	0	1	0	0	0	543	768	27	1	1113	1	ALPI	2	233323014	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	53780484	233323014	9876359	12	3981											
PDCD1	5133	broad.mit.edu	37	2	242800933	242800933	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:242800933G>A	uc002wcq.4	-	0	126	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	PDCD1_uc010fzt.3_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	20					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CATCCTGGCCGCCAGCCCAGT	0.677													A	242800933	G	A	242800933	3	1	62	1	0	0	0	0	1	0	0	0	11615	1086	38	1	828	1	PDCD1	2	242800933	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	9477919	242800933	398440	13	3982											
ATP2B2	491	broad.mit.edu	37	3	10413514	10413514	+	Silent	SNP	G	G	A	rs148841263	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:10413514G>A	uc003bvt.3	-	11	2077	c.1638C>T	c.(1636-1638)agC>agT	p.S546S	ATP2B2_uc003bvv.3_Silent_p.S501S|ATP2B2_uc003bvw.3_Silent_p.S501S|ATP2B2_uc010hdo.3_Silent_p.S251S	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	546					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGGTGTAGGCGCTGTTGATGG	0.547													A	10413514	G	A	10413514	2	1	62	1	0	0	0	0	0	0	0	1	1140	1078	38	1		1	ATP2B2	3	10413514	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08		10413514	187608916	14	3983											
NR2C2	7182	broad.mit.edu	37	3	15070193	15070193	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:15070193A>G	uc003bzj.4	+	7	1116	c.899A>G	c.(898-900)cAg>cGg	p.Q300R	NR2C2_uc003bzi.3_Missense_Mutation_p.Q319R	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	300					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.V299A(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGAAATCCAGCCAGAGGAC	0.542													G	15070193	A	G	15070193	3	3	62	1	0	0	0	0	1	0	0	0	10623	188	7	4	986	4	NR2C2	3	15070193	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	4656679	15070193	182952237	15	3984											
LRRC3B	116135	broad.mit.edu	37	3	26751737	26751737	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:26751737G>A	uc003cdp.3	+	1	1163	c.574G>A	c.(574-576)Gct>Act	p.A192T	LRRC3B_uc003cdq.3_Missense_Mutation_p.A192T|LRRC3B_uc021wuj.1_Missense_Mutation_p.A192T	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	192	LRRCT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TGCCAACGACGCTGACCTTTG	0.468													A	26751737	G	A	26751737	3	1	62	1	0	0	0	0	1	0	0	0	8996	1087	38	1	576	1	LRRC3B	3	26751737	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	11681544	26751737	171270693	16	3985											
MST1R	4486	broad.mit.edu	37	3	49940194	49940194	+	Silent	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:49940194A>G	uc003cxy.4	-	0	1113	c.849T>C	c.(847-849)ctT>ctC	p.L283L	MST1R_uc011bdc.2_Silent_p.L283L|MST1R_uc011bdd.2_Silent_p.L283L|MST1R_uc011bde.1_Silent_p.L283L|MST1R_uc011bdf.1_Silent_p.L283L|MST1R_uc011bdg.2_Silent_p.L283L	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	283	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAGTGGCGCTAAGCCGTGCCA	0.622													G	49940194	A	G	49940194	2	3	62	1	0	0	0	0	0	0	0	1	9891	349	13	4		4	MST1R	3	49940194	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08	23188457	49940194	148082236	17	3986											
ITIH4	3700	broad.mit.edu	37	3	52851043	52851043	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:52851043C>T	uc011bem.2	-	20	2371	c.2343G>A	c.(2341-2343)gaG>gaA	p.E781E	ITIH4_uc011bel.2_Silent_p.E490E|ITIH4_uc003dfy.3_Silent_p.E571E|ITIH4_uc003dfz.3_Silent_p.E776E|ITIH4_uc011ben.2_Silent_p.E746E	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	776					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCCAGCCTTCTCCCTCTCAT	0.592													T	52851043	C	T	52851043	2	4	62	1	0	0	0	0	0	0	0	1	7906	912	32	3		3	ITIH4	3	52851043	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	2910849	52851043	145171387	18	3987											
ARL6	84100	broad.mit.edu	37	3	97506846	97506846	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:97506846G>A	uc003drv.3	+	6	675	c.362G>A	c.(361-363)cGt>cAt	p.R121H	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.R121H|ARL6_uc010hoy.3_Missense_Mutation_p.R121H	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	121					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ATTAAACACCGTCGAATTCCA	0.323													A	97506846	G	A	97506846	3	1	62	1	0	0	0	0	1	0	0	0	941	1145	40	1	380	1	ARL6	3	97506846	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	44655803	97506846	100515584	19	3988											
OR5K1	26339	broad.mit.edu	37	3	98189167	98189167	+	Silent	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:98189167A>G	uc003dsm.3	+	0	747	c.747A>G	c.(745-747)tcA>tcG	p.S249S		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S249L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTCAGTTTCATTATTCTATG	0.333													G	98189167	A	G	98189167	2	3	62	1	0	0	0	0	0	0	0	1	11166	204	8	4		4	OR5K1	3	98189167	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08	682321	98189167	99833263	20	3989											
ST3GAL6	10402	broad.mit.edu	37	3	98507190	98507190	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:98507190G>C	uc003dtc.3	+	8	1106	c.639G>C	c.(637-639)aaG>aaC	p.K213N	ST3GAL6_uc003dsy.3_Missense_Mutation_p.K127N|ST3GAL6_uc003dsz.3_Missense_Mutation_p.K213N|ST3GAL6_uc003dta.3_Missense_Mutation_p.K95N|ST3GAL6_uc010hpd.3_Missense_Mutation_p.K266N	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.	213					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GTTTTTGGAAGAAACCAGCCT	0.323													C	98507190	G	C	98507190	3	2	62	1	0	0	0	0	1	0	0	0	15218	933	33	5	665	5	ST3GAL6	3	98507190	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	318023	98507190	99515240	21	3990											
MYLK	4638	broad.mit.edu	37	3	123428617	123428617	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:123428617G>C	uc003ego.3	-	13	2210	c.1928C>G	c.(1927-1929)aCt>aGt	p.T643S	MYLK_uc011bjw.2_Missense_Mutation_p.T643S|MYLK_uc003egp.3_Missense_Mutation_p.T574S|MYLK_uc003egq.3_Missense_Mutation_p.T643S|MYLK_uc003egr.3_Missense_Mutation_p.T574S|MYLK_uc003egs.3_Missense_Mutation_p.T467S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	643	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			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)		CACTTGGACAGTCATAGTGAC	0.532													C	123428617	G	C	123428617	3	2	62	1	0	0	0	0	1	0	0	0	10056	1029	36	5	3900	5	MYLK	3	123428617	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	24921427	123428617	74593813	22	3991											
TRIM42	287015	broad.mit.edu	37	3	140397090	140397090	+	Missense_Mutation	SNP	G	G	A	rs116143762	by1000genomes	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:140397090G>A	uc003eto.2	+	0	225	c.19G>A	c.(19-21)Gtt>Att	p.V7I		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	7	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCTATGTGCGTTTGCTGTCC	0.507													A	140397090	G	A	140397090	3	1	62	1	0	0	0	0	1	0	0	0	16514	1145	40	1	21	1	TRIM42	3	140397090	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	16968473	140397090	57625340	23	3992											
ZIC4	84107	broad.mit.edu	37	3	147114065	147114065	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:147114065C>T	uc011bno.2	-	2	598	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	ZIC4_uc003ewc.2_Missense_Mutation_p.A18T|ZIC4_uc021xff.1_Missense_Mutation_p.A126T|ZIC4_uc003ewd.2_Missense_Mutation_p.A88T|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	88						nucleus	DNA binding|zinc ion binding	p.A88S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTGCCAGGGCGTCGCTGCGG	0.701													T	147114065	C	T	147114065	3	4	62	1	0	0	0	0	1	0	0	0	17678	768	27	1	754	1	ZIC4	3	147114065	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	6716975	147114065	50908365	24	3993											
VPS8	23355	broad.mit.edu	37	3	184571960	184571960	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:184571960G>A	uc021xik.1	+	12	1123	c.1035_splice	c.e12+1	p.R345_splice	VPS8_uc003fpb.1_Splice_Site_p.R343_splice|VPS8_uc010hyd.1_Splice_Site_p.R343_splice	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	345							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CCCTATGGCCGGGTGAGTACG	0.413													A	184571960	G	A	184571960	3	1	62	1	0	0	0	0	1	0	0	0	17215	1130	39	2	1076	2	VPS8	3	184571960	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	37457895	184571960	13450470	25	3994											
MUC4	4585	broad.mit.edu	37	3	195505849	195505849	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:195505849G>A	uc021xjp.1	-	1	12758	c.12602C>T	c.(12601-12603)gCa>gTa	p.A4201V	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	964					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		ACCTGTGGATGCTGAGGAAGT	0.592													A	195505849	G	A	195505849	3	1	62	1	0	0	0	0	1	0	0	0	9978	1319	46	3		3	MUC4	3	195505849	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	10933889	195505849	2516581	26	3995											
TLR6	10333	broad.mit.edu	37	4	38830788	38830788	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:38830788C>T	uc010ifg.2	-	1	428	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TLR6_uc003gtm.3_Missense_Mutation_p.E103K	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	103					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAAATATTCTAAATCCTGG	0.363													T	38830788	C	T	38830788	3	4	62	1	0	0	0	0	1	0	0	0	15952	922	32	3	2087	3	TLR6	4	38830788	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		38830788	152323488	27	3996											
PRDM8	56978	broad.mit.edu	37	4	81123201	81123201	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:81123201C>T	uc010ijo.3	+	7	1424	c.585C>T	c.(583-585)ggC>ggT	p.G195G	PRDM8_uc003hmb.4_Silent_p.G195G|PRDM8_uc003hmc.4_Silent_p.G195G	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	195	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						AACAAggcggcggcgtgggca	0.617											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	81123201	C	T	81123201	2	4	62	1	0	0	0	0	0	0	0	1	12462	755	27	1		1	PRDM8	4	81123201	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	42292413	81123201	110031075	28	3997											
HHIP	64399	broad.mit.edu	37	4	145580881	145580881	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:145580881G>A	uc003ijs.2	+	3	1402	c.722G>A	c.(721-723)cGt>cAt	p.R241H	HHIP_uc003ijr.2_Missense_Mutation_p.R241H	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	241						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCTCGCAACGTCTCTTCATT	0.453													A	145580881	G	A	145580881	3	1	62	1	0	0	0	0	1	0	0	0	7092	1145	40	1	736	1	HHIP	4	145580881	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	64457680	145580881	45573395	29	3998											
HCN1	348980	broad.mit.edu	37	5	45262309	45262309	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:45262309T>A	uc003jok.3	-	7	2412	c.2387A>T	c.(2386-2388)gAg>gTg	p.E796V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	796						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGTGGACACCTCATGGGGCAG	0.632													A	45262309	T	A	45262309	3	1	62	1	0	0	0	0	1	0	0	0	6996	1551	54	5	289	5	HCN1	5	45262309	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08		45262309	135652951	30	3999											
PJA2	9867	broad.mit.edu	37	5	108680493	108680493	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:108680493C>A	uc003kos.4	-	7	2012	c.1792G>T	c.(1792-1794)Gca>Tca	p.A598S		NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	598	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACATCCACTGCAAGAGACTCT	0.408													A	108680493	C	A	108680493	3	1	62	1	0	0	0	0	1	0	0	0	11962	710	25	5	346	5	PJA2	5	108680493	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	63418184	108680493	72234767	31	4000											
GNPDA1	10007	broad.mit.edu	37	5	141385836	141385838	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:141385836_141385838delGAA	uc003lmf.4	-	2	1039_1041	c.280_282delTTC	c.(280-282)ttcdel	p.F94del	GNPDA1_uc003lmg.4_In_Frame_Del_p.F94del|GNPDA1_uc010jgh.3_In_Frame_Del_p.F94del|GNPDA1_uc003lmh.4_In_Frame_Del_p.F60del	NM_005471	NP_005462	P46926	GNPI1_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.	94					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGTGCTTGAAGAAGTTGTTC	0.527													-	141385838	GAA	-	141385836	7	5	62	1	0	1	0	1	0	0	0	0	6542	1281	45	0	603	0	GNPDA1	5	141385836	In_Frame_Del	DEL	GAA	TCGA-06-0747-01A-01W-0348-08	32705343	141385836	39529424	32	4001											
CPEB4	80315	broad.mit.edu	37	5	173317554	173317554	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:173317554delA	uc003mcs.4	+	0	2224	c.818delA	c.(817-819)catfs	p.H273fs	CPEB4_uc010jju.2_Frame_Shift_Del_p.H273fs|CPEB4_uc010jjv.3_Frame_Shift_Del_p.H273fs|CPEB4_uc011dfg.2_Frame_Shift_Del_p.H273fs|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	273							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGCCTCATTTGGCGAAT	0.557													-	173317554	A	-	173317554	7	5	62	1	0	1	0	1	0	0	0	0	3803	217	8	0	820	0	CPEB4	5	173317554	Frame_Shift_Del	DEL	A	TCGA-06-0747-01A-01W-0348-08	31931718	173317554	7597706	33	4002											
PRSS16	10279	broad.mit.edu	37	6	27220721	27220721	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:27220721C>T	uc003nja.3	+	8	1158	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.F124F|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.F158F|PRSS16_uc010jqr.1_Silent_p.F132F|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	381					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.F381F(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTACCGAGTTCGGCTTCTGTA	0.507													T	27220721	C	T	27220721	2	4	62	1	0	0	0	0	0	0	0	1	12616	883	31	2		2	PRSS16	6	27220721	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08		27220721	143894346	34	4003											
UHRF1BP1	54887	broad.mit.edu	37	6	34838669	34838669	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:34838669C>T	uc003oju.4	+	17	3991	c.3757C>T	c.(3757-3759)Cac>Tac	p.H1253Y	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1253										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAAGACTGGCCACATCAGGCC	0.498													T	34838669	C	T	34838669	3	4	62	1	0	0	0	0	1	0	0	0	16965	594	21	3	3827	3	UHRF1BP1	6	34838669	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	7617948	34838669	136276398	35	4004											
EEF1A1	1915	broad.mit.edu	37	6	74227627	74227627	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:74227627G>A	uc003phi.3	-	6	2287	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	EEF1A1_uc003phj.3_Missense_Mutation_p.T432I|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	432						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CACCGCAACTGTCTGTCTCAT	0.403											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	74227627	G	A	74227627	3	1	62	1	0	0	0	0	1	0	0	0	4923	1377	48	3	97	3	EEF1A1	6	74227627	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	39388958	74227627	96887440	36	4005											
TMEM30A	55754	broad.mit.edu	37	6	75968538	75968538	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:75968538G>C	uc003phw.2	-	5	1128	c.850C>G	c.(850-852)Cca>Gca	p.P284A	TMEM30A_uc003phx.2_Missense_Mutation_p.P248A	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	284						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTAATGTTGGATGTAAATCA	0.388													C	75968538	G	C	75968538	3	2	62	1	0	0	0	0	1	0	0	0	16150	1174	41	5	243	5	TMEM30A	6	75968538	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	1740911	75968538	95146529	37	4006											
TTK	7272	broad.mit.edu	37	6	80746263	80746263	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:80746263G>C	uc003pjc.3	+	16	2107	c.1996G>C	c.(1996-1998)Ggg>Cgg	p.G666R	TTK_uc003pjb.4_Missense_Mutation_p.G665R	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	666	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATTGATTTTGGGATTGCAAA	0.323													C	80746263	G	C	80746263	3	2	62	1	0	0	0	0	1	0	0	0	16717	1348	47	5	2058	5	TTK	6	80746263	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	4777725	80746263	90368804	38	4007											
MYB	4602	broad.mit.edu	37	6	135514998	135514998	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:135514998C>T	uc003qfh.3	+	6	984	c.785C>T	c.(784-786)cCt>cTt	p.P262L	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.P262L|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Missense_Mutation_p.P74L|MYB_uc010kgi.3_Missense_Mutation_p.P262L|MYB_uc003qfq.3_Missense_Mutation_p.P262L|MYB_uc010kgj.3_Missense_Mutation_p.P262L|MYB_uc003qfo.3_Missense_Mutation_p.P262L|MYB_uc003qfu.3_Missense_Mutation_p.P262L|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.P262L|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.P262L|MYB_uc003qgd.1_Missense_Mutation_p.P74L|MYB_uc003qge.1_5'Flank	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	262					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTTCCATACCCTGTAGCGTTA	0.453			T	NFIB	adenoid cystic carcinoma								T	135514998	C	T	135514998	3	4	62	1	0	0	0	0	1	0	0	0	10007	681	24	3	811	3	MYB	6	135514998	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	54768735	135514998	35600069	39	4008											
EGFR	1956	broad.mit.edu	37	7	55221822	55221823	+	Missense_Mutation	DNP	CC	CC	TT	rs149840192		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:55221822_55221823CC>TT	uc003tqk.3	+	6	1112_1113	c.866_867CC>TT	c.(865-867)gcc>gTT	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTGA	0.594		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			TT	55221823	CC	TT	55221822	3	4	62	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	DNP	CC	TCGA-06-0747-01A-01W-0348-08		55221822	103916841	40	4009											
GPR85	54329	broad.mit.edu	37	7	112724771	112724771	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:112724771C>T	uc010ljv.2	-	1	523	c.6G>A	c.(4-6)gcG>gcA	p.A2A	GPR85_uc003vgp.1_Silent_p.A2A|GPR85_uc003vgq.2_Silent_p.A2A|GPR85_uc010ljw.1_Silent_p.A2A|GPR85_uc022akd.1_Silent_p.A2A	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	2						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A2V(1)|p.A2G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTATAGTTCGCCATAGATG	0.403													T	112724771	C	T	112724771	2	4	62	1	0	0	0	0	0	0	0	1	6715	871	31	2		2	GPR85	7	112724771	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	57502949	112724771	46413892	41	4010											
DENND2A	27147	broad.mit.edu	37	7	140267052	140267052	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:140267052T>C	uc010lnk.3	-	8	2133	c.1613A>G	c.(1612-1614)aAc>aGc	p.N538S	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.N538S|DENND2A_uc003vvw.3_Missense_Mutation_p.N538S|DENND2A_uc003vvx.3_Missense_Mutation_p.N538S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	538										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGACTTCACGTTGACCAGGCG	0.567													C	140267052	T	C	140267052	3	2	62	1	0	0	0	0	1	0	0	0	4429	1725	60	4	1464	4	DENND2A	7	140267052	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08	27542281	140267052	18871611	42	4011											
GBX1	2636	broad.mit.edu	37	7	150845924	150845924	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:150845924A>T	uc011kvg.2	-	1	1076	c.844T>A	c.(844-846)Tgc>Agc	p.C282S		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	282						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTTCTTGCAATGAAATTCC	0.557													T	150845924	A	T	150845924	3	4	62	1	0	0	0	0	1	0	0	0	6280	130	5	5	250	5	GBX1	7	150845924	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	10578872	150845924	8292739	43	4012											
RPS20	6224	broad.mit.edu	37	8	56985787	56985787	+	Silent	SNP	A	A	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:56985787A>T	uc003xsm.2	-	3	420	c.222T>A	c.(220-222)tcT>tcA	p.S74S	RPS20_uc003xsn.2_Silent_p.S74S	NM_001146227	NP_001139699	P60866	RS20_HUMAN	Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA.	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CCCACGTCTTAGAACCTTCAC	0.388													T	56985787	A	T	56985787	2	4	62	1	0	0	0	0	0	0	0	1	13632	407	15	5		5	RPS20	8	56985787	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08		56985787	89378235	44	4013											
ARFGEF1	10565	broad.mit.edu	37	8	68140324	68140327	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:68140324_68140327delTAAT	uc003xxo.2	-	24	3852_3855	c.3462_3465delATTA	c.(3460-3465)gaattafs	p.E1154fs	ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.E608fs|ARFGEF1_uc003xxn.2_Frame_Shift_Del_p.E137fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1154					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCGTGGAAAGTAATTCATCCATAG	0.343													-	68140327	TAAT	-	68140324	7	5	62	1	0	1	0	1	0	0	0	0	852	1635	57	0	2144	0	ARFGEF1	8	68140324	Frame_Shift_Del	DEL	TAAT	TCGA-06-0747-01A-01W-0348-08	11154537	68140324	78223698	45	4014											
EIF2C2	27161	broad.mit.edu	37	8	141570507	141570507	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:141570507C>T	uc003yvn.3	-	4	662	c.621G>A	c.(619-621)cgG>cgA	p.R207R	EIF2C2_uc010meo.3_Silent_p.R207R|EIF2C2_uc010men.3_Silent_p.R130R	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	207					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			AGAGAGAAGGCCGGACGGACT	0.622													T	141570507	C	T	141570507	2	4	62	1	0	0	0	0	0	0	0	1	5006	726	26	3		3	EIF2C2	8	141570507	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	73430183	141570507	4793515	46	4015											
IFNA10	3446	broad.mit.edu	37	9	21206995	21206995	+	Silent	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:21206995A>G	uc003zoq.1	-	0	148	c.102T>C	c.(100-102)aaT>aaC	p.N34N	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	34					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			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		AGGCCCTCCTATTACCCAGGC	0.512													G	21206995	A	G	21206995	2	3	62	1	0	0	0	0	0	0	0	1	7532	446	16	4		4	IFNA10	9	21206995	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08		21206995	120006436	47	4016											
KIAA0368	23392	broad.mit.edu	37	9	114188086	114188086	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:114188086C>T	uc004bfe.1	-	11	1607	c.1607G>A	c.(1606-1608)gGt>gAt	p.G536D	KIAA0368_uc010muc.1_Missense_Mutation_p.G358D	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGTATTTGTACCAAAAAGTCC	0.254													T	114188086	C	T	114188086	3	4	62	1	0	0	0	0	1	0	0	0	8171	507	18	3	4606	3	KIAA0368	9	114188086	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	92981091	114188086	27025345	48	4017											
CDK5RAP2	55755	broad.mit.edu	37	9	123156840	123156840	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:123156840A>C	uc004bkf.3	-	35	5709	c.5528T>G	c.(5527-5529)aTg>aGg	p.M1843R	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.M852R|CDK5RAP2_uc004bke.3_Missense_Mutation_p.M1128R|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.M1764R|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lya.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.M1613R	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1843	Interaction with PCNT and AKAP9.				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			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						CAAAAGCTTCATGGTGTTTTG	0.428													C	123156840	A	C	123156840	3	2	62	1	0	0	0	0	1	0	0	0	3146	217	8	5	165	5	CDK5RAP2	9	123156840	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	8968754	123156840	18056591	49	4018											
OR1J1	347168	broad.mit.edu	37	9	125239745	125239745	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:125239745G>A	uc011lyu.2	-	0	461	c.461C>T	c.(460-462)gCg>gTg	p.A154V	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGAGCACACGCACAAGCGAT	0.542													A	125239745	G	A	125239745	3	1	62	1	0	0	0	0	1	0	0	0	10959	1087	38	1	510	1	OR1J1	9	125239745	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	2082905	125239745	15973686	50	4019											
MBL2	4153	broad.mit.edu	37	10	54531391	54531391	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:54531391G>T	uc001jjt.3	-	0	70	c.5C>A	c.(4-6)tCc>tAc	p.S2Y		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	2					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			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAACAGGGACATGGTCCT	0.502													T	54531391	G	T	54531391	3	4	62	1	0	0	0	0	1	0	0	0	9350	1174	41	5	757	5	MBL2	10	54531391	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		54531391	81003356	51	4020											
PCDH15	65217	broad.mit.edu	37	10	55839114	55839114	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:55839114C>G	uc010qhy.1	-	17	2478	c.2083G>C	c.(2083-2085)Gct>Cct	p.A695P	PCDH15_uc010qhq.2_Missense_Mutation_p.A695P|PCDH15_uc010qhr.2_Missense_Mutation_p.A690P|PCDH15_uc021pqv.1_Missense_Mutation_p.A690P|PCDH15_uc021pqw.1_Missense_Mutation_p.A702P|PCDH15_uc010qht.2_Missense_Mutation_p.A697P|PCDH15_uc021pqx.1_Missense_Mutation_p.A690P|PCDH15_uc001jjv.1_Missense_Mutation_p.A668P|PCDH15_uc021pqy.1_Missense_Mutation_p.A690P|PCDH15_uc021pqz.1_Missense_Mutation_p.A668P|PCDH15_uc010qhv.1_Missense_Mutation_p.A690P|PCDH15_uc010qhw.1_Missense_Mutation_p.A653P|PCDH15_uc010qhx.1_Missense_Mutation_p.A619P|PCDH15_uc010qhz.1_Missense_Mutation_p.A690P|PCDH15_uc010qia.1_Missense_Mutation_p.A668P|PCDH15_uc001jju.1_Missense_Mutation_p.A690P|PCDH15_uc010qib.1_Missense_Mutation_p.A668P|PCDH15_uc001jjw.3_Missense_Mutation_p.A690P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	690	Cadherin 6.				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			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)				CCATCTGAAGCTGTGATGATC	0.433										HNSCC(58;0.16)			G	55839114	C	G	55839114	3	3	62	1	0	0	0	0	1	0	0	0	11511	797	28	5	5486	5	PCDH15	10	55839114	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	1307723	55839114	79695633	52	4021											
MGMT	4255	broad.mit.edu	37	10	131506185	131506185	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:131506185C>T	uc001lkh.2	+	2	271	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	82										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GCCCCCGCTGCGGTTCTCGGA	0.602								Direct reversal of damage					T	131506185	C	T	131506185	3	4	62	1	0	0	0	0	1	0	0	0	9557	768	27	1	255	1	MGMT	10	131506185	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	75667071	131506185	4028562	53	4022											
PDE3B	5140	broad.mit.edu	37	11	14853295	14853295	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:14853295G>A	uc001mln.3	+	8	2419	c.2066G>A	c.(2065-2067)gGa>gAa	p.G689E	PDE3B_uc010rcr.2_Missense_Mutation_p.G638E	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	689					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAAAGATGGGAGAGAAATCA	0.294													A	14853295	G	A	14853295	3	1	62	1	0	0	0	0	1	0	0	0	11638	1174	41	3	2100	3	PDE3B	11	14853295	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		14853295	120153221	54	4023											
HIPK3	10114	broad.mit.edu	37	11	33375092	33375092	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:33375092T>C	uc001mul.1	+	16	3896	c.3626T>C	c.(3625-3627)cTc>cCc	p.L1209P	HIPK3_uc001mum.1_Missense_Mutation_p.L1188P|HIPK3_uc009yjv.1_Missense_Mutation_p.L1188P	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	1209					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCAACAAAACTCAGCCAGTAT	0.363													C	33375092	T	C	33375092	3	2	62	1	0	0	0	0	1	0	0	0	7118	1551	54	4	3688	4	HIPK3	11	33375092	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08	18521797	33375092	101631424	55	4024											
OR5AS1	219447	broad.mit.edu	37	11	55798090	55798090	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:55798090T>G	uc010riw.2	+	0	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTTAGCAACTTATCTTTCTT	0.348													G	55798090	T	G	55798090	3	3	62	1	0	0	0	0	1	0	0	0	11146	1606	56	5	198	5	OR5AS1	11	55798090	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08	22422998	55798090	79208426	56	4025											
OR5M9	390162	broad.mit.edu	37	11	56229973	56229973	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:56229973G>C	uc010rjj.2	-	0	905	c.905C>G	c.(904-906)gCa>gGa	p.A302G	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CTTGGTGATTGCTTTGTTGAC	0.378													C	56229973	G	C	56229973	3	2	62	1	0	0	0	0	1	0	0	0	11177	1319	46	5	29	5	OR5M9	11	56229973	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	431883	56229973	78776543	57	4026											
DTX4	23220	broad.mit.edu	37	11	58949878	58949878	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:58949878A>G	uc001nns.2	+	1	1135	c.878A>G	c.(877-879)aAt>aGt	p.N293S	DTX4_uc001nnr.2_Missense_Mutation_p.N187S	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	293					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCACCTTGAATCGTACCAAC	0.612													G	58949878	A	G	58949878	3	3	62	1	0	0	0	0	1	0	0	0	4797	101	4	4	884	4	DTX4	11	58949878	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	2719905	58949878	76056638	58	4027											
PCNXL3	399909	broad.mit.edu	37	11	65402835	65402835	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:65402835G>A	uc001oey.2	+	30	5100	c.5100G>A	c.(5098-5100)gcG>gcA	p.A1700A	PCNXL3_uc001oez.2_Silent_p.A587A|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1700						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCTGCTGGCGCTGCGCCATG	0.632													A	65402835	G	A	65402835	2	1	62	1	0	0	0	0	0	0	0	1	11593	1074	38	1		1	PCNXL3	11	65402835	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	6452957	65402835	69603681	59	4028											
CACNA1C	775	broad.mit.edu	37	12	2716205	2716205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:2716205C>T	uc009zdu.1	+	26	3638	c.3325C>T	c.(3325-3327)Cgc>Tgc	p.R1109C	CACNA1C_uc001qkc.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1089C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1086C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qka.1_Missense_Mutation_p.R624C|CACNA1C_uc001qki.1_Missense_Mutation_p.R825C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1109	Dihydropyridine binding (By similarity).				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			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)	CATCCAACCCCGCAGCTGGGA	0.542													T	2716205	C	T	2716205	3	4	62	1	0	0	0	0	1	0	0	0	2540	652	23	2	3539	2	CACNA1C	12	2716205	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		2716205	131135690	60	4029											
TMTC1	83857	broad.mit.edu	37	12	29669420	29669420	+	Splice_Site	SNP	C	C	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:29669420C>A	uc021qwi.1	-	15	2229	c.2170_splice	c.e15-1	p.A724_splice	TMTC1_uc001riz.3_Splice_Site_p.A373_splice|TMTC1_uc001rja.3_Splice_Site_p.A460_splice|TMTC1_uc001rjb.3_Splice_Site_p.A616_splice|TMTC1_uc001riy.3_Splice_Site_p.A69_splice	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	724						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAACCTGAGCCTACAAAACCA	0.453													A	29669420	C	A	29669420	5	1	62	1	0	0	0	0	0	0	1	0	16257	695	24	5	495	5	TMTC1	12	29669420	Splice_Site	SNP	C	TCGA-06-0747-01A-01W-0348-08	26953215	29669420	104182475	61	4030											
ABCD2	225	broad.mit.edu	37	12	40001468	40001468	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:40001468G>A	uc001rmb.2	-	2	1595	c.1169C>T	c.(1168-1170)aCc>aTc	p.T390I		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	390	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCGAGCAGTGGTAAAGGCTTC	0.323													A	40001468	G	A	40001468	3	1	62	1	0	0	0	0	1	0	0	0	61	1261	44	3	1085	3	ABCD2	12	40001468	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	10332048	40001468	93850427	62	4031											
PCDH20	64881	broad.mit.edu	37	13	61985826	61985826	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr13:61985826G>A	uc001vid.4	-	1	2770	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G	PCDH20_uc010thj.2_Silent_p.G802G	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	775	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGTAATGTTGCCAGTTTTAG	0.488													A	61985826	G	A	61985826	2	1	62	1	0	0	0	0	0	0	0	1	11515	1306	46	3		3	PCDH20	13	61985826	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08		61985826	53184052	63	4032											
PCID2	55795	broad.mit.edu	37	13	113854813	113854813	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr13:113854813G>A	uc021rmt.1	-	1	135	c.54C>T	c.(52-54)gaC>gaT	p.D18D	PCID2_uc021rmq.1_Silent_p.D18D|PCID2_uc021rmr.1_Silent_p.D18D|PCID2_uc021rms.1_Silent_p.D18D|PCID2_uc001vtg.2_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	18					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCTCTGCTGTCGATGGCTT	0.418													A	113854813	G	A	113854813	2	1	62	1	0	0	0	0	0	0	0	1	11579	1368	48	3		3	PCID2	13	113854813	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	51868987	113854813	1315065	64	4033											
AHNAK2	113146	broad.mit.edu	37	14	105404844	105404844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr14:105404844C>T	uc010axc.1	-	6	17064	c.16944G>A	c.(16942-16944)tgG>tgA	p.W5648*	AHNAK2_uc021sen.1_Nonsense_Mutation_p.W1045*|AHNAK2_uc021seo.1_Nonsense_Mutation_p.W646*|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.W5548*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5648						nucleus				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)			TGTTTGGAAGCCAAAACCAGA	0.478													T	105404844	C	T	105404844	4	4	62	1	0	0	0	0	0	1	0	0	415	740	26	3	447	3	AHNAK2	14	105404844	Nonsense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		105404844	1944696	65	4034											
EIF3J	8669	broad.mit.edu	37	15	44829531	44829532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr15:44829531_44829532insT	uc001ztv.3	+	1	180_181	c.53_54insT	c.(52-54)gctfs	p.A18fs	LOC645212_uc021skh.1_5'Flank|LOC645212_uc001ztu.3_5'Flank|EIF3J_uc010ueg.2_Frame_Shift_Ins_p.A18fs	NM_003758	NP_003749	O75822	EIF3J_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.	18	Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GACGCCGACGCTTTCTCCGTGG	0.708													T	44829532	-	T	44829531	7	5	62	1	0	1	1	0	0	0	0	0	5020	797	28	0	59	0	EIF3J	15	44829531	Frame_Shift_Ins	INS	-	TCGA-06-0747-01A-01W-0348-08		44829531	57701861	66	4035											
CEP152	22995	broad.mit.edu	37	15	49054660	49054660	+	Silent	SNP	T	T	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr15:49054660T>G	uc001zwz.3	-	17	2683	c.2490A>C	c.(2488-2490)atA>atC	p.I830I	CEP152_uc001zwy.3_Silent_p.I830I|CEP152_uc001zxa.2_Silent_p.I737I	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	830					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCTTGATGGCTATGTCCTTCT	0.358													G	49054660	T	G	49054660	2	3	62	1	0	0	0	0	0	0	0	1	3248	1512	53	5		5	CEP152	15	49054660	Silent	SNP	T	TCGA-06-0747-01A-01W-0348-08	4225129	49054660	53476732	67	4036											
HYDIN	54768	broad.mit.edu	37	16	70913364	70913364	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr16:70913364C>T	uc002ezr.3	-	61	10541	c.10390G>A	c.(10390-10392)Gtg>Atg	p.V3464M		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3465										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTCAAACACGAGGCCTCGG	0.567													T	70913364	C	T	70913364	3	4	62	1	0	0	0	0	1	0	0	0	7467	536	19	1	5072	1	HYDIN	16	70913364	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		70913364	19441389	68	4037											
SLC4A1	6521	broad.mit.edu	37	17	42330498	42330498	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:42330498C>T	uc002igf.4	-	16	2448	c.2299G>A	c.(2299-2301)Gct>Act	p.A767T	SLC4A1_uc021tyc.1_Missense_Mutation_p.A401T	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	767	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACAAGCACAGCGACCAGGAGT	0.637													T	42330498	C	T	42330498	3	4	62	1	0	0	0	0	1	0	0	0	14650	768	27	1	452	1	SLC4A1	17	42330498	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		42330498	38864712	69	4038											
FBF1	85302	broad.mit.edu	37	17	73914257	73914257	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:73914257G>A	uc002jqc.3	-	19	2461	c.2187C>T	c.(2185-2187)gcC>gcT	p.A729A	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.A720A|FBF1_uc002jqd.1_Silent_p.A730A|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.A40A	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	729										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGTGGGAGGTGGCACTGGTGG	0.662													A	73914257	G	A	73914257	2	1	62	1	0	0	0	0	0	0	0	1	5695	1335	47	3		3	FBF1	17	73914257	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	31583759	73914257	7280953	70	4039											
AANAT	15	broad.mit.edu	37	17	74465812	74465812	+	Silent	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:74465812C>T	uc021udg.1	+	6	1526	c.519C>T	c.(517-519)cgC>cgT	p.R173R	AANAT_uc002jro.3_Silent_p.R128R|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	128	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CCGTGCACCGCGCCTTCCGGC	0.701													T	74465812	C	T	74465812	2	4	62	1	0	0	0	0	0	0	0	1	18	755	27	1		1	AANAT	17	74465812	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	551555	74465812	6729398	71	4040											
EPB41L3	23136	broad.mit.edu	37	18	5489008	5489008	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:5489008G>A	uc002kmt.1	-	1	261	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	EPB41L3_uc010wzh.1_Missense_Mutation_p.R59W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R59W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.R81W|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	59					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACCTCCCTCCGCACCGGGGTG	0.672													A	5489008	G	A	5489008	3	1	62	1	0	0	0	0	1	0	0	0	5154	1086	38	1	3172	1	EPB41L3	18	5489008	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		5489008	72588240	72	4041											
LAMA3	3909	broad.mit.edu	37	18	21338466	21338466	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:21338466G>A	uc002kuq.3	+	6	1140	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	LAMA3_uc010dlv.2_Missense_Mutation_p.E352K|LAMA3_uc002kur.3_Missense_Mutation_p.E352K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	352	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGAGCCACGAGTGTGAAGG	0.647													A	21338466	G	A	21338466	3	1	62	1	0	0	0	0	1	0	0	0	8607	1059	37	2	1080	2	LAMA3	18	21338466	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	15849458	21338466	56738782	73	4042											
TAF4B	6875	broad.mit.edu	37	18	23873445	23873445	+	Silent	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:23873445A>G	uc002kvt.4	+	8	2286	c.1797A>G	c.(1795-1797)gcA>gcG	p.A599A	TAF4B_uc002kvu.4_Silent_p.A594A|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	594					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CACTTCAAGCATCTCCTACTC	0.269													G	23873445	A	G	23873445	2	3	62	1	0	0	0	0	0	0	0	1	15524	204	8	4		4	TAF4B	18	23873445	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08	2534979	23873445	54203803	74	4043											
BEST2	54831	broad.mit.edu	37	19	12864093	12864093	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:12864093C>T	uc002mux.3	+	1	172	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	58					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GACCGAAGGGCAGAAGCGCTA	0.567													T	12864093	C	T	12864093	4	4	62	1	0	0	0	0	0	1	0	0	1405	711	25	3	178	3	BEST2	19	12864093	Nonsense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		12864093	46264890	75	4044											
OR7A10	390892	broad.mit.edu	37	19	14951796	14951796	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:14951796C>A	uc002mzx.1	-	0	894	c.894G>T	c.(892-894)aaG>aaT	p.K298N		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TCATAGCACCCTTTATGTGTT	0.468													A	14951796	C	A	14951796	3	1	62	1	0	0	0	0	1	0	0	0	11214	680	24	5	39	5	OR7A10	19	14951796	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	2087703	14951796	44177187	76	4045											
MAP1S	55201	broad.mit.edu	37	19	17838511	17838511	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:17838511G>A	uc002nhe.1	+	4	2327	c.2318G>A	c.(2317-2319)cGg>cAg	p.R773Q	MAP1S_uc010eaz.2_Missense_Mutation_p.R386Q|MAP1S_uc010xpv.1_Missense_Mutation_p.R747Q	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	773	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.R773R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCACAGGAACGGGCAGGTGGG	0.687													A	17838511	G	A	17838511	3	1	62	1	0	0	0	0	1	0	0	0	9234	1116	39	2	2336	2	MAP1S	19	17838511	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	2886715	17838511	41290472	77	4046											
CEACAM5	1048	broad.mit.edu	37	19	42218934	42218934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:42218934G>A	uc002orl.3	+	2	590	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	CEACAM5_uc010ehz.1_Missense_Mutation_p.V157M|CEACAM5_uc002orj.1_Missense_Mutation_p.V157M	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	157	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTCCAAACCCGTGGAGGACAA	0.562													A	42218934	G	A	42218934	3	1	62	1	0	0	0	0	1	0	0	0	3195	1145	40	1	479	1	CEACAM5	19	42218934	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	24380423	42218934	16910049	78	4047											
FUT1	2523	broad.mit.edu	37	19	49253828	49253828	+	Silent	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:49253828G>A	uc002pkk.3	-	3	1686	c.711C>T	c.(709-711)ggC>ggT	p.G237G	FUT1_uc021uwy.1_Silent_p.G237G	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	237					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCGCTGTCGCCCACCACAC	0.657													A	49253828	G	A	49253828	2	1	62	1	0	0	0	0	0	0	0	1	6101	1074	38	1		1	FUT1	19	49253828	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	7034894	49253828	9875155	79	4048											
NLRP12	91662	broad.mit.edu	37	19	54314476	54314476	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:54314476C>T	uc002qcj.4	-	2	657	c.437G>A	c.(436-438)cGc>cAc	p.R146H	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R146H|NLRP12_uc002qci.4_Missense_Mutation_p.R146H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R146H	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	146					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.R146L(2)|p.R146H(2)|p.A145A(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)		TTCCCCTAGGCGCGCATTGCG	0.567													T	54314476	C	T	54314476	3	4	62	1	0	0	0	0	1	0	0	0	10474	768	27	1	2876	1	NLRP12	19	54314476	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	5060648	54314476	4814507	80	4049											
C20orf196	149840	broad.mit.edu	37	20	5843987	5843987	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:5843987G>T	uc002wmf.3	+	2	583	c.496G>T	c.(496-498)Gac>Tac	p.D166Y		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA.	166										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCATTCCAGGGACACCCACTT	0.512													T	5843987	G	T	5843987	3	4	62	1	0	0	0	0	1	0	0	0	2101	1174	41	5	502	5	C20orf196	20	5843987	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		5843987	57181533	81	4050											
DLGAP4	22839	broad.mit.edu	37	20	35060659	35060659	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:35060659G>A	uc002xff.3	+	2	974	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	DLGAP4_uc010zvp.2_Missense_Mutation_p.R180Q	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	180					cell-cell signaling	membrane	protein binding	p.R180W(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)				GGCAAGGGCCGGAGGGCCAAA	0.647													A	35060659	G	A	35060659	3	1	62	1	0	0	0	0	1	0	0	0	4562	1116	39	2	541	2	DLGAP4	20	35060659	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	29216672	35060659	27964861	82	4051											
NFATC2	4773	broad.mit.edu	37	20	50133367	50133367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:50133367G>A	uc002xwd.3	-	2	1508	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	NFATC2_uc002xwc.3_Nonsense_Mutation_p.R430*|NFATC2_uc010zyv.2_Nonsense_Mutation_p.R211*|NFATC2_uc010zyw.2_Nonsense_Mutation_p.R211*|NFATC2_uc002xwe.3_Nonsense_Mutation_p.R410*|NFATC2_uc010zyx.2_Nonsense_Mutation_p.R410*|NFATC2_uc010zyy.2_Nonsense_Mutation_p.R211*|NFATC2_uc010zyz.2_Nonsense_Mutation_p.R211*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	430	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ACAGCCCCTCGGCTGCCTTCT	0.557													A	50133367	G	A	50133367	4	1	62	1	0	0	0	0	0	1	0	0	10362	1124	39	2	1569	2	NFATC2	20	50133367	Nonsense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	15072708	50133367	12892153	83	4052											
COL20A1	57642	broad.mit.edu	37	20	61943349	61943349	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:61943349G>A	uc011aau.2	+	13	1845	c.1745G>A	c.(1744-1746)aGg>aAg	p.R582K	COL20A1_uc011aav.2_Missense_Mutation_p.R403K	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	582	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTGCCCCGAGGCCTGTGCGC	0.682													A	61943349	G	A	61943349	3	1	62	1	0	0	0	0	1	0	0	0	3679	1000	35	3	1795	3	COL20A1	20	61943349	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	11809982	61943349	1082171	84	4053											
KRTAP10-11	386678	broad.mit.edu	37	21	46066409	46066409	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr21:46066409G>A	uc002zfr.4	+	0	79	c.34G>A	c.(34-36)Gct>Act	p.A12T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	12						keratin filament		p.S11S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CTGCTCCAGCGCTTACTCCGA	0.667													A	46066409	G	A	46066409	3	1	62	1	0	0	0	0	1	0	0	0	8507	1087	38	1	36	1	KRTAP10-11	21	46066409	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		46066409	2063486	85	4054											
SLC19A1	6573	broad.mit.edu	37	21	46950811	46950811	+	Missense_Mutation	SNP	C	C	T	rs142899279		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr21:46950811C>T	uc002zhl.2	-	3	1177	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	SLC19A1_uc010gpy.1_Missense_Mutation_p.V342I|SLC19A1_uc011aft.2_Missense_Mutation_p.V302I|SLC19A1_uc002zhm.2_Missense_Mutation_p.V342I|SLC19A1_uc010gpz.2_Missense_Mutation_p.V221I	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	342					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GTGGCCGTGACGCCCGCGATG	0.697													T	46950811	C	T	46950811	3	4	62	1	0	0	0	0	1	0	0	0	14428	536	19	1	763	1	SLC19A1	21	46950811	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	884402	46950811	1179084	86	4055											
CCT8L2	150160	broad.mit.edu	37	22	17073274	17073274	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:17073274C>T	uc002zlp.1	-	0	427	c.167G>A	c.(166-168)cGg>cAg	p.R56Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	56					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.G55S(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)				GAACTTCTGCCGGCCGTGGGG	0.642													T	17073274	C	T	17073274	3	4	62	1	0	0	0	0	1	0	0	0	2961	652	23	2	1510	2	CCT8L2	22	17073274	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		17073274	34231292	87	4056											
GNB1L	54584	broad.mit.edu	37	22	19799872	19799872	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:19799872C>T	uc002zqf.1	-	4	590	c.353G>A	c.(352-354)aGc>aAc	p.S118N		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	118					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		p.R117W(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CAGGATGCTGCTCCGGCAGAA	0.692													T	19799872	C	T	19799872	3	4	62	1	0	0	0	0	1	0	0	0	6516	797	28	3	646	3	GNB1L	22	19799872	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	2726598	19799872	31504694	88	4057											
SYN3	8224	broad.mit.edu	37	22	33402361	33402361	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:33402361A>G	uc003amx.3	-	0	449	c.287T>C	c.(286-288)gTg>gCg	p.V96A	SYN3_uc003amy.3_Missense_Mutation_p.V96A|SYN3_uc003amz.3_Missense_Mutation_p.V96A	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	96	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ATCATCGATCACCAACAGGAT	0.547													G	33402361	A	G	33402361	3	3	62	1	0	0	0	0	1	0	0	0	15439	159	6	4	1507	4	SYN3	22	33402361	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	13602489	33402361	17902205	89	4058											
PCDH11Y	83259	broad.mit.edu	37	Y	5605524	5605524	+	Silent	SNP	C	C	A			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chrY:5605524C>A	uc004fqo.3	+	4	4298	c.3564C>A	c.(3562-3564)ctC>ctA	p.L1188L	PCDH11Y_uc022ciy.1_5'Flank	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1188					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCATTGTTCTCTGCCACAGCC	0.582													A	5605524	C	A	5605524	2	1	62	1	0	0	0	0	0	0	0	1	11509	900	32	5		5	PCDH11Y	24	5605524	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08		5605524	53768042	90	4059											
ARHGEF10L	55160	broad.mit.edu	37	1	17990973	17990973	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:17990973C>T	uc001ban.3	+	25	3051	c.2892C>T	c.(2890-2892)ccC>ccT	p.P964P	ARHGEF10L_uc009vpe.1_Silent_p.P925P|ARHGEF10L_uc001bao.3_Silent_p.P925P|ARHGEF10L_uc001bap.3_Silent_p.P920P|ARHGEF10L_uc001baq.3_Silent_p.P725P|ARHGEF10L_uc010ocs.2_Silent_p.P737P|ARHGEF10L_uc001bar.3_Silent_p.P667P|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	964					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.P964A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGAGCCCTCCCGTGTGCCTGA	0.692													T	17990973	C	T	17990973	2	4	63	1	0	0	0	0	0	0	0	1	895	639	23	2		2	ARHGEF10L	1	17990973	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		17990973	231259648	1	4060											
FLG	2312	broad.mit.edu	37	1	152276886	152276886	+	Silent	SNP	G	G	A	rs144901359		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:152276886G>A	uc001ezu.1	-	2	10512	c.10476C>T	c.(10474-10476)gaC>gaT	p.D3492D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3492	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D3492Y(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)			CTGATTGTTCGTCATTACGAG	0.567									Ichthyosis				A	152276886	G	A	152276886	2	1	63	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152276886	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	134285913	152276886	96973735	2	4061											
LCE2C	353140	broad.mit.edu	37	1	152648777	152648777	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:152648777C>A	uc021ozc.1	+	0	286	c.286C>A	c.(286-288)Cct>Act	p.P96T	LCE2C_uc001fah.3_Missense_Mutation_p.P96T	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	96	Cys-rich.				keratinization					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)			TGAGAGTGAACCTTCTGGGGG	0.662													A	152648777	C	A	152648777	3	1	63	1	0	0	0	0	1	0	0	0	8667	507	18	5	288	5	LCE2C	1	152648777	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	371891	152648777	96601844	3	4062											
NUP210L	91181	broad.mit.edu	37	1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:154062058G>A	uc001fdw.3	-	15	2272	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423													A	154062058	G	A	154062058	4	1	63	1	0	0	0	0	0	1	0	0	10761	1124	39	2	3566	2	NUP210L	1	154062058	Nonsense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	1413281	154062058	95188563	4	4063											
ARHGAP30	257106	broad.mit.edu	37	1	161023102	161023102	+	Missense_Mutation	SNP	C	C	T	rs149577194		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:161023102C>T	uc001fxl.3	-	5	956	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	ARHGAP30_uc001fxk.3_Missense_Mutation_p.V204M|ARHGAP30_uc001fxm.3_Missense_Mutation_p.V50M|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.V50M	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	204	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATGAACTCCACGACGATGGAT	0.562													T	161023102	C	T	161023102	3	4	63	1	0	0	0	0	1	0	0	0	879	536	19	1	2723	1	ARHGAP30	1	161023102	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	6961044	161023102	88227519	5	4064											
NLRP3	114548	broad.mit.edu	37	1	247607348	247607348	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:247607348C>T	uc001icr.3	+	8	2882	c.2744C>T	c.(2743-2745)aCg>aTg	p.T915M	NLRP3_uc001ics.3_Missense_Mutation_p.T858M|NLRP3_uc001icu.3_Missense_Mutation_p.T915M|NLRP3_uc001icw.3_Missense_Mutation_p.T858M|NLRP3_uc001icv.3_Missense_Mutation_p.T801M|NLRP3_uc010pyw.2_Missense_Mutation_p.T893M	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	915					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.T915K(4)		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)			CAGAATCTCACGCACCTTTAC	0.512													T	247607348	C	T	247607348	3	4	63	1	0	0	0	0	1	0	0	0	10478	536	19	1	2770	1	NLRP3	1	247607348	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	86584246	247607348	1643273	6	4065											
TAF1B	9014	broad.mit.edu	37	2	9994457	9994457	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:9994457C>T	uc002qzz.3	+	4	406	c.306C>T	c.(304-306)aaC>aaT	p.N102N	TAF1B_uc010exc.2_Silent_p.N102N|TAF1B_uc002qzy.4_Silent_p.N102N|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	102					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CACCTTAGAACGATGTTTTAC	0.408													T	9994457	C	T	9994457	2	4	63	1	0	0	0	0	0	0	0	1	15517	535	19	1		1	TAF1B	2	9994457	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		9994457	233204916	7	4066											
OTOF	9381	broad.mit.edu	37	2	26705441	26705441	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:26705441T>C	uc002rhk.3	-	13	1539	c.1412A>G	c.(1411-1413)aAg>aGg	p.K471R		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	471	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.Q470*(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGCTGCTCTTCTGCACTGA	0.577													C	26705441	T	C	26705441	3	2	63	1	0	0	0	0	1	0	0	0	11303	1609	56	4	5042	4	OTOF	2	26705441	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	16710984	26705441	216493932	8	4067											
BIRC6	57448	broad.mit.edu	37	2	32695356	32695356	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:32695356T>A	uc010ezu.3	+	30	6602	c.6468T>A	c.(6466-6468)caT>caA	p.H2156Q		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2156					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACCCATGCATAGGAGGACAG	0.318													A	32695356	T	A	32695356	3	1	63	1	0	0	0	0	1	0	0	0	1438	1403	49	5	6590	5	BIRC6	2	32695356	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	5989915	32695356	210504017	9	4068											
TET3	200424	broad.mit.edu	37	2	74275488	74275489	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:74275488_74275489delAC	uc002skb.4	+	0	2039_2040	c.2039_2040delAC	c.(2038-2040)gacfs	p.D680fs	TET3_uc010fez.2_Frame_Shift_Del_p.D680fs	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	680							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTCTGCTGGACACACCTGCCA	0.604													-	74275489	AC	-	74275488	7	5	63	1	0	1	0	1	0	0	0	0	15768	275	10	0	2041	0	TET3	2	74275488	Frame_Shift_Del	DEL	AC	TCGA-06-0749-01A-01W-0348-08	41580132	74275488	168923885	10	4069											
POTEE	445582	broad.mit.edu	37	2	132021710	132021710	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:132021710C>T	uc002tsn.2	+	14	2734	c.2682C>T	c.(2680-2682)acC>acT	p.T894T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T494T|POTEE_uc002tsl.2_Silent_p.T476T|POTEE_uc010fmy.1_Silent_p.T358T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	894	Actin-like.						ATP binding										AGATCCTCACCGAGCGTGGCT	0.587													T	132021710	C	T	132021710	2	4	63	1	0	0	0	0	0	0	0	1	12264	639	23	2		2	POTEE	2	132021710	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	57746222	132021710	111177663	11	4070											
MYO1B	4430	broad.mit.edu	37	2	192275792	192275792	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:192275792T>C	uc010fsg.2	+	27	3022	c.2767_splice	c.e27-1	p.C923_splice	MYO1B_uc002usq.2_Splice_Site_p.C865_splice|MYO1B_uc002usr.2_Splice_Site_p.C923_splice|MYO1B_uc002usu.2_Splice_Site_p.C168_splice	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	923						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			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)			TATCTCACAGTGTAAAAAATA	0.308													C	192275792	T	C	192275792	3	2	63	1	0	0	0	0	1	0	0	0	10069	1710	59	4	2869	4	MYO1B	2	192275792	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	60254082	192275792	50923581	12	4071											
FGD5	152273	broad.mit.edu	37	3	14862751	14862751	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:14862751T>A	uc003bzc.3	+	0	2283	c.2173T>A	c.(2173-2175)Tat>Aat	p.Y725N	FGD5_uc011avk.2_Missense_Mutation_p.Y725N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	725					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTCATCTTTTATAGAGATGG	0.577													A	14862751	T	A	14862751	3	1	63	1	0	0	0	0	1	0	0	0	5836	1754	61	5	2175	5	FGD5	3	14862751	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08		14862751	183159679	13	4072											
DAG1	1605	broad.mit.edu	37	3	49568839	49568839	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:49568839A>G	uc021wxz.1	+	2	1364	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	DAG1_uc021wya.1_Missense_Mutation_p.I299V|DAG1_uc021wyb.1_Missense_Mutation_p.I299V|DAG1_uc021wyc.1_Missense_Mutation_p.I299V|DAG1_uc021wyd.1_Missense_Mutation_p.I299V|DAG1_uc021wye.1_Missense_Mutation_p.I299V|DAG1_uc021wyf.1_Missense_Mutation_p.I299V|DAG1_uc021wyg.1_Missense_Mutation_p.I299V|DAG1_uc021wyh.1_Missense_Mutation_p.I299V|DAG1_uc021wyi.1_Missense_Mutation_p.I299V|DAG1_uc021wyj.1_Missense_Mutation_p.I299V|DAG1_uc021wyk.1_Missense_Mutation_p.I299V|DAG1_uc003cxc.4_Missense_Mutation_p.I299V	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	299	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGTTGGCACATCGCCAATAA	0.597													G	49568839	A	G	49568839	3	3	63	1	0	0	0	0	1	0	0	0	4225	217	8	4	901	4	DAG1	3	49568839	Missense_Mutation	SNP	A	TCGA-06-0749-01A-01W-0348-08	34706088	49568839	148453591	14	4073											
CASR	846	broad.mit.edu	37	3	121980530	121980530	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:121980530C>T	uc003eew.4	+	3	1086	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_uc003eev.4_Silent_p.D216D	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	216					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.D216D(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537													T	121980530	C	T	121980530	2	4	63	1	0	0	0	0	0	0	0	1	2682	535	19	1		1	CASR	3	121980530	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	72411691	121980530	76041900	15	4074											
ADCY5	111	broad.mit.edu	37	3	123038564	123038564	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:123038564C>T	uc003egh.2	-	9	2213	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	ADCY5_uc021xdd.1_Missense_Mutation_p.R388H|ADCY5_uc003egg.2_Missense_Mutation_p.R371H|ADCY5_uc003egi.1_Missense_Mutation_p.R297H	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	738					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGAACTTGCGGACGTGCTC	0.587													T	123038564	C	T	123038564	3	4	63	1	0	0	0	0	1	0	0	0	297	768	27	1	1620	1	ADCY5	3	123038564	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	1058034	123038564	74983866	16	4075											
PIGZ	80235	broad.mit.edu	37	3	196675037	196675037	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:196675037C>T	uc003fxh.3	-	2	878	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	244					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGTGGCTCCACGAGTGCCCCA	0.637													T	196675037	C	T	196675037	3	4	63	1	0	0	0	0	1	0	0	0	11905	536	19	1	1012	1	PIGZ	3	196675037	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	73636473	196675037	1347393	17	4076											
ZNF718	255403	broad.mit.edu	37	4	155414	155414	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:155414C>T	uc003fzw.4	+	1	867	c.278C>T	c.(277-279)gCg>gTg	p.A93V	ZNF718_uc003fzt.4_Silent_p.C313C|ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 718 (ZNF718), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CCTTCTCATGCGAAGAATGTG	0.373													T	155414	C	T	155414	2	4	63	1	0	0	0	0	0	0	0	1	18117	776	27	1		1	ZNF718	4	155414	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		155414	190998862	18	4077											
RBM47	54502	broad.mit.edu	37	4	40440359	40440359	+	Silent	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:40440359G>A	uc003gvc.2	-	3	1262	c.552C>T	c.(550-552)taC>taT	p.Y184Y	RBM47_uc003gvd.2_Silent_p.Y184Y|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.Y146Y|RBM47_uc003gvg.1_Silent_p.Y184Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	184	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGCGCTGGCGTAGACGATCA	0.647													A	40440359	G	A	40440359	2	1	63	1	0	0	0	0	0	0	0	1	13141	1140	40	1		1	RBM47	4	40440359	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	40284945	40440359	150713917	19	4078											
ALB	213	broad.mit.edu	37	4	74283995	74283995	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:74283995T>A	uc003hgs.4	+	11	1692	c.1619T>A	c.(1618-1620)cTt>cAt	p.L540H	ALB_uc011cbe.2_Missense_Mutation_p.L219H|ALB_uc003hgw.4_Missense_Mutation_p.L348H|ALB_uc011cbf.2_Missense_Mutation_p.L430H	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	540	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATATGCACACTTTCTGAGAAG	0.403													A	74283995	T	A	74283995	3	1	63	1	0	0	0	0	1	0	0	0	486	1609	56	5	1665	5	ALB	4	74283995	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	33843636	74283995	116870281	20	4079											
PPEF2	5470	broad.mit.edu	37	4	76793227	76793227	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:76793227C>T	uc003hix.3	-	12	1957	c.1600G>A	c.(1600-1602)Gtg>Atg	p.V534M	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.V534M	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	534	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATACTGCACAATATGTGGG	0.428													T	76793227	C	T	76793227	3	4	63	1	0	0	0	0	1	0	0	0	12308	478	17	3	681	3	PPEF2	4	76793227	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	2509232	76793227	114361049	21	4080											
ADAMTS12	81792	broad.mit.edu	37	5	33596125	33596125	+	Silent	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:33596125G>A	uc003jia.1	-	16	2731	c.2568C>T	c.(2566-2568)cgC>cgT	p.R856R	ADAMTS12_uc010iuq.1_Silent_p.R771R	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	856	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TCACCATCCCGCGGCCCTTCT	0.512										HNSCC(64;0.19)			A	33596125	G	A	33596125	2	1	63	1	0	0	0	0	0	0	0	1	257	1074	38	1		1	ADAMTS12	5	33596125	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08		33596125	147319135	22	4081											
PCDHAC2	56139	broad.mit.edu	37	5	140237259	140237259	+	Silent	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:140237259G>A	uc003lhx.2	+	0	1626	c.1626G>A	c.(1624-1626)ccG>ccA	p.P542P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.P542P	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	557	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCGTGCCGCCTCTGGGCA	0.697													A	140237259	G	A	140237259	2	1	63	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140237259	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	106641134	140237259	40678001	23	4082											
PCDHB5	26167	broad.mit.edu	37	5	140517047	140517052	+	In_Frame_Del	DEL	GGCCCA	GGCCCA	-			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:140517047_140517052delGGCCCA	uc003liq.3	+	0	2248_2253	c.2031_2036delGGCCCA	c.(2029-2037)ccggcccag>ccg	p.AQ680del		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	680					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCCCCGGCCCAGGCCCAGGCC	0.694													-	140517052	GGCCCA	-	140517047	7	5	63	1	0	1	0	1	0	0	0	0	11545	1103	39	0	2033	0	PCDHB5	5	140517047	In_Frame_Del	DEL	GGCCCA	TCGA-06-0749-01A-01W-0348-08	279788	140517047	40398213	24	4083											
RIPK1	8737	broad.mit.edu	37	6	3104537	3104537	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:3104537C>T	uc010jni.3	+	7	1226	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	RIPK1_uc003muv.4_Missense_Mutation_p.R169W|RIPK1_uc003mux.3_Missense_Mutation_p.R332W|RIPK1_uc011dhs.2_Missense_Mutation_p.R286W	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.	332	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACCTTCAAGCCGGTCAAATTC	0.348													T	3104537	C	T	3104537	3	4	63	1	0	0	0	0	1	0	0	0	13380	643	23	2	1020	2	RIPK1	6	3104537	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		3104537	168010530	25	4084											
OR2H1	26716	broad.mit.edu	37	6	29430405	29430405	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:29430405G>A	uc003nmi.3	+	2	1302	c.859G>A	c.(859-861)Gta>Ata	p.V287I	OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.2_Missense_Mutation_p.V209I|OR2H1_uc021ytr.1_Missense_Mutation_p.V287I	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TAACCCTCTCGTATACACCCT	0.493													A	29430405	G	A	29430405	3	1	63	1	0	0	0	0	1	0	0	0	11001	1145	40	1	861	1	OR2H1	6	29430405	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	26325868	29430405	141684662	26	4085											
GABBR1	2550	broad.mit.edu	37	6	29599228	29599228	+	Silent	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:29599228G>A	uc003nmt.4	-	2	570	c.234C>T	c.(232-234)gtC>gtT	p.V78V	GABBR1_uc003nmu.4_Silent_p.V78V|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Silent_p.V78V	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	78	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGCACTTGCGGACCTTGGGCC	0.602													A	29599228	G	A	29599228	2	1	63	1	0	0	0	0	0	0	0	1	6155	1161	41	3		3	GABBR1	6	29599228	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	168823	29599228	141515839	27	4086											
TNRC18	84629	broad.mit.edu	37	7	5417608	5417608	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:5417608G>A	uc003soi.4	-	5	2549	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	734							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGTTCCTCCCGGTGTCTGGCC	0.682													A	5417608	G	A	5417608	3	1	63	1	0	0	0	0	1	0	0	0	16336	1115	39	2	6806	2	TNRC18	7	5417608	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08		5417608	153721055	28	4087											
RAMP3	10268	broad.mit.edu	37	7	45216987	45216987	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:45216987C>T	uc003tnb.3	+	1	199	c.138C>T	c.(136-138)gaC>gaT	p.D46D		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	46					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTTTCGCAGACATGATGGGCA	0.607													T	45216987	C	T	45216987	2	4	63	1	0	0	0	0	0	0	0	1	13023	477	17	3		3	RAMP3	7	45216987	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	39799379	45216987	113921676	29	4088											
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221821	G	A	55221821	3	1	63	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	10004834	55221821	103916842	30	4089											
EGFR	1956	broad.mit.edu	37	7	55249022	55249022	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:55249022G>A	uc003tqk.3	+	19	2566	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	EGFR_uc022adm.1_Missense_Mutation_p.V774M|EGFR_uc010kzg.2_Missense_Mutation_p.V729M|EGFR_uc022adn.1_Missense_Mutation_p.V729M|EGFR_uc011kco.2_Missense_Mutation_p.V721M|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.V9M	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	774	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H773_V774insNPH(21)|p.P772_H773insPR(11)|p.V774M(9)|p.H773R(9)|p.H773_V774insH(5)|p.H773_V774insPH(4)|p.V774_C775insHV(4)|p.H773_V774insQ(2)|p.P772_H773insYNP(2)|p.H773_V774insGNPH(2)|p.P772_H773insX(2)|p.H773L(2)|p.V774L(2)|p.H773Y(2)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.P772_H773insV(1)|p.V774del(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.P772_H773insHV(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.H773_V774>LM(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAACCCCCACGTGTGCCGCCT	0.632		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55249022	G	A	55249022	3	1	63	1	0	0	0	0	1	0	0	0	4967	1145	40	1	2662	1	EGFR	7	55249022	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	27201	55249022	103889641	31	4090											
PCLO	27445	broad.mit.edu	37	7	82582186	82582186	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:82582186delA	uc003uhx.2	-	4	8372	c.8083delT	c.(8083-8085)tccfs	p.S2695fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.S2695fs|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2626					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						ATTGTTATGGAAATGCTGCTG	0.413													-	82582186	A	-	82582186	7	5	63	1	0	1	0	1	0	0	0	0	11583	246	9	0	7446	0	PCLO	7	82582186	Frame_Shift_Del	DEL	A	TCGA-06-0749-01A-01W-0348-08	27333164	82582186	76556477	32	4091											
BAIAP2L1	55971	broad.mit.edu	37	7	97935824	97935824	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:97935824C>G	uc003upj.3	-	10	1431	c.1168G>C	c.(1168-1170)Ggt>Cgt	p.G390R	hCG_2023280_uc003upk.1_5'Flank	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	390	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGGAACCAACCCCTCCTACCG	0.572													G	97935824	C	G	97935824	3	3	63	1	0	0	0	0	1	0	0	0	1302	623	22	5	383	5	BAIAP2L1	7	97935824	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	15353638	97935824	61202839	33	4092											
MCM7	4176	broad.mit.edu	37	7	99694927	99694927	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:99694927G>A	uc003usw.1	-	9	1708	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	MCM7_uc003usv.1_Missense_Mutation_p.R224C|MCM7_uc003usx.1_Missense_Mutation_p.R224C	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	400	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	p.R400C(1)|p.R224C(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TACTTACTGCGAGGCGCCAGT	0.512													A	99694927	G	A	99694927	3	1	63	1	0	0	0	0	1	0	0	0	9392	1058	37	2	985	2	MCM7	7	99694927	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	1759103	99694927	59443736	34	4093											
ASZ1	136991	broad.mit.edu	37	7	117020042	117020042	+	Silent	SNP	T	T	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:117020042T>C	uc003vjb.2	-	9	1068	c.1005A>G	c.(1003-1005)gtA>gtG	p.V335V	ASZ1_uc011kno.1_Silent_p.V335V|ASZ1_uc011knp.1_Silent_p.V127V	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	335					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			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)			GTATCTCTTCTACCTGTAGTT	0.308													C	117020042	T	C	117020042	2	2	63	1	0	0	0	0	0	0	0	1	1069	1509	53	4		4	ASZ1	7	117020042	Silent	SNP	T	TCGA-06-0749-01A-01W-0348-08	17325115	117020042	42118621	35	4094											
HIPK2	28996	broad.mit.edu	37	7	139416214	139416214	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:139416214C>T	uc003vvf.4	-	1	891	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	HIPK2_uc003vvd.4_Missense_Mutation_p.R207Q	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	207	Interaction with DAXX.|Protein kinase.|Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AAACGTCCCTCGGCCCAAGAA	0.552													T	139416214	C	T	139416214	3	4	63	1	0	0	0	0	1	0	0	0	7117	884	31	2	3032	2	HIPK2	7	139416214	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	22396172	139416214	19722449	36	4095											
CLCN1	1180	broad.mit.edu	37	7	143048733	143048733	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:143048733G>A	uc003wcr.1	+	22	2729	c.2642G>A	c.(2641-2643)cGc>cAc	p.R881H	CLCN1_uc011ktc.1_Missense_Mutation_p.R493H	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	881					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L880L(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)					GTGCAGCTCCGCCCTCCCCTT	0.537													A	143048733	G	A	143048733	3	1	63	1	0	0	0	0	1	0	0	0	3462	1087	38	1	2732	1	CLCN1	7	143048733	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	3632519	143048733	16089930	37	4096											
KCNB2	9312	broad.mit.edu	37	8	73848914	73848914	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr8:73848914C>T	uc003xzb.3	+	2	1912	c.1324C>T	c.(1324-1326)Cgg>Tgg	p.R442W		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	442					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGCTCTTGAGCGGGCCAAAAG	0.443													T	73848914	C	T	73848914	3	4	63	1	0	0	0	0	1	0	0	0	8013	759	27	1	1330	1	KCNB2	8	73848914	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		73848914	72515108	38	4097											
KIFC2	90990	broad.mit.edu	37	8	145693119	145693119	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr8:145693119T>C	uc003zcz.3	+	5	703	c.638T>C	c.(637-639)cTg>cCg	p.L213P	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	213	Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AAGCAGCAGCTGGAACAGCAG	0.642											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	145693119	T	C	145693119	3	2	63	1	0	0	0	0	1	0	0	0	8313	1580	55	4	660	4	KIFC2	8	145693119	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	71844205	145693119	670903	39	4098											
BNC2	54796	broad.mit.edu	37	9	16419304	16419304	+	Missense_Mutation	SNP	C	C	T	rs143124811	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr9:16419304C>T	uc003zml.3	-	6	3123	c.2983G>A	c.(2983-2985)Ggg>Agg	p.G995R	BNC2_uc011lmw.2_Missense_Mutation_p.G900R|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.G782R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCACTCGCCCCGTCAATGTCA	0.592													T	16419304	C	T	16419304	3	4	63	1	0	0	0	0	1	0	0	0	1475	652	23	2	320	2	BNC2	9	16419304	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		16419304	124794127	40	4099											
TAF1L	138474	broad.mit.edu	37	9	32631824	32631824	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr9:32631824G>A	uc003zrg.1	-	0	3844	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1252					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.R1252W(2)		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)		CGCTTAAGCCGCCTCAGTTGC	0.448													A	32631824	G	A	32631824	3	1	63	1	0	0	0	0	1	0	0	0	15520	1086	38	1	1730	1	TAF1L	9	32631824	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	16212520	32631824	108581607	41	4100											
PTEN	5728	broad.mit.edu	37	10	89720738	89720738	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr10:89720738delG	uc001kfb.3	+	7	1921	c.889delG	c.(889-891)gatfs	p.D297fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	297	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.C296fs*1(1)|p.G165_*404del(1)|p.C296fs*11(1)|p.G165_K342del(1)|p.C296*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGTCTATGTGATCAAGAAAT	0.318		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720738	G	-	89720738	7	5	63	1	0	1	0	1	0	0	0	0	12738	1290	45	0	919	0	PTEN	10	89720738	Frame_Shift_Del	DEL	G	TCGA-06-0749-01A-01W-0348-08		89720738	45814009	42	4101											
OR8K3	219473	broad.mit.edu	37	11	56086620	56086620	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:56086620G>T	uc010rjf.2	+	0	838	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTACACCCTGGTTATCCCCAT	0.378													T	56086620	G	T	56086620	3	4	63	1	0	0	0	0	1	0	0	0	11244	1261	44	5	840	5	OR8K3	11	56086620	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08		56086620	78919896	43	4102											
OR10W1	81341	broad.mit.edu	37	11	58034677	58034677	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:58034677C>A	uc001nmq.1	-	0	1056	c.654G>T	c.(652-654)aaG>aaT	p.K218N		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K218N(4)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCGAGTGGATCTTGAGCAGAG	0.572													A	58034677	C	A	58034677	3	1	63	1	0	0	0	0	1	0	0	0	10921	912	32	5	267	5	OR10W1	11	58034677	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	1948057	58034677	76971839	44	4103											
OR4D5	219875	broad.mit.edu	37	11	123811000	123811000	+	Missense_Mutation	SNP	G	G	A	rs142766960		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:123811000G>A	uc001pzk.1	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTCATGCTCCGAAGCCACTCA	0.507													A	123811000	G	A	123811000	3	1	63	1	0	0	0	0	1	0	0	0	11057	1058	37	2	679	2	OR4D5	11	123811000	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	65776323	123811000	11195516	45	4104											
LRIG3	121227	broad.mit.edu	37	12	59272793	59272793	+	Silent	SNP	G	G	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:59272793G>T	uc001sqr.3	-	13	2142	c.1896C>A	c.(1894-1896)ccC>ccA	p.P632P	LRIG3_uc009zqh.3_Silent_p.P572P|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	632	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGCTATCTGGGGGGCTGGGT	0.597			T	ROS1	NSCLC								T	59272793	G	T	59272793	2	4	63	1	0	0	0	0	0	0	0	1	8946	1219	43	5		5	LRIG3	12	59272793	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08		59272793	74579102	46	4105											
NAV3	89795	broad.mit.edu	37	12	78582438	78582438	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:78582438A>C	uc001syp.3	+	32	6109	c.5936A>C	c.(5935-5937)gAc>gCc	p.D1979A	NAV3_uc001syo.3_Missense_Mutation_p.D1957A|NAV3_uc010sub.2_Missense_Mutation_p.D1436A|NAV3_uc009zsf.3_Missense_Mutation_p.D788A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1979						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			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						CTGAGCTCTGACTGCATTGCT	0.388										HNSCC(70;0.22)			C	78582438	A	C	78582438	3	2	63	1	0	0	0	0	1	0	0	0	10185	275	10	5	5996	5	NAV3	12	78582438	Missense_Mutation	SNP	A	TCGA-06-0749-01A-01W-0348-08	19309645	78582438	55269457	47	4106											
PLEKHG7	440107	broad.mit.edu	37	12	93148040	93148040	+	Missense_Mutation	SNP	C	C	T	rs115752910	by1000genomes	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:93148040C>T	uc001tcj.2	+	6	720	c.490_splice	c.e6+1	p.R164_splice		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	164	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAAGTCCATCCGTAAGTCCCT	0.438													T	93148040	C	T	93148040	3	4	63	1	0	0	0	0	1	0	0	0	12075	666	23	2	508	2	PLEKHG7	12	93148040	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	14565602	93148040	40703855	48	4107											
STAB2	55576	broad.mit.edu	37	12	104014256	104014256	+	Silent	SNP	T	T	G			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:104014256T>G	uc001tjw.3	+	3	528	c.342T>G	c.(340-342)ggT>ggG	p.G114G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	114	EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G114C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGTGCCCAGGTGGAGCGGGGT	0.493													G	104014256	T	G	104014256	2	3	63	1	0	0	0	0	0	0	0	1	15237	1683	59	5		5	STAB2	12	104014256	Silent	SNP	T	TCGA-06-0749-01A-01W-0348-08	10866216	104014256	29837639	49	4108											
GPR133	283383	broad.mit.edu	37	12	131622720	131622720	+	Silent	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:131622720G>A	uc010tbm.2	+	24	3130	c.2571G>A	c.(2569-2571)tcG>tcA	p.S857S	GPR133_uc001uit.4_Silent_p.S825S|GPR133_uc009zyo.3_Silent_p.S107S|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	825					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGGTCTGGTCGCTCACGAGCA	0.597													A	131622720	G	A	131622720	2	1	63	1	0	0	0	0	0	0	0	1	6643	1074	38	1		1	GPR133	12	131622720	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	27608464	131622720	2229175	50	4109											
FUT8	2530	broad.mit.edu	37	14	66028372	66028372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr14:66028372C>T	uc001xin.3	+	2	1818	c.91C>T	c.(91-93)Cga>Tga	p.R31*	FUT8_uc001xio.3_Nonsense_Mutation_p.R31*|FUT8_uc010tsp.2_Intron|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Nonsense_Mutation_p.R31*|FUT8_uc001xiq.3_Intron	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	31					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCACTTGGTACGAGATAATGA	0.458													T	66028372	C	T	66028372	4	4	63	1	0	0	0	0	0	1	0	0	6110	528	19	1	93	1	FUT8	14	66028372	Nonsense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		66028372	41321168	51	4110											
AK7	122481	broad.mit.edu	37	14	96917806	96917806	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr14:96917806T>C	uc001yfn.2	+	9	1041	c.997T>C	c.(997-999)Ttt>Ctt	p.F333L		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	333					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGAAGCGCTCTTTGTGAAGGA	0.368													C	96917806	T	C	96917806	3	2	63	1	0	0	0	0	1	0	0	0	444	1609	56	4	1035	4	AK7	14	96917806	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	30889434	96917806	10431734	52	4111											
CREBBP	1387	broad.mit.edu	37	16	3842056	3842056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:3842056C>T	uc002cvv.3	-	4	1460	c.1256G>A	c.(1255-1257)tGg>tAg	p.W419*	CREBBP_uc002cvw.3_Intron	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	419					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGTTCTTCCAATGAGAGAT	0.428			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						T	3842056	C	T	3842056	4	4	63	1	0	0	0	0	0	1	0	0	3861	595	21	3	6180	3	CREBBP	16	3842056	Nonsense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		3842056	86512697	53	4112											
CIITA	4261	broad.mit.edu	37	16	11000852	11000852	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:11000852C>T	uc002daj.4	+	10	1639	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	CIITA_uc002dai.4_Silent_p.F501F|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.F501F|CIITA_uc002dah.2_Silent_p.F453F|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	501	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TAGACGGCTTCGAGGAGCTGG	0.647			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								T	11000852	C	T	11000852	2	4	63	1	0	0	0	0	0	0	0	1	3428	883	31	2		2	CIITA	16	11000852	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	7158796	11000852	79353901	54	4113											
PRKCB	5579	broad.mit.edu	37	16	24166139	24166139	+	Silent	SNP	G	G	A	rs141827066		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:24166139G>A	uc002dmd.3	+	9	1397	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	PRKCB_uc002dme.3_Silent_p.P400P	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	400	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.P400P(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTGGGAAGCCGCCCTTCCTGA	0.567													A	24166139	G	A	24166139	2	1	63	1	0	0	0	0	0	0	0	1	12508	1074	38	1		1	PRKCB	16	24166139	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	13165287	24166139	66188614	55	4114											
LCMT1	51451	broad.mit.edu	37	16	25143735	25143735	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:25143735G>A	uc002dnx.1	+	2	376	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	LCMT1_uc002dny.1_Missense_Mutation_p.R73Q	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	73							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TATTTTGCTCGAGTCCATGGT	0.488													A	25143735	G	A	25143735	3	1	63	1	0	0	0	0	1	0	0	0	8678	1058	37	2	228	2	LCMT1	16	25143735	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	977596	25143735	65211018	56	4115											
MYH2	4620	broad.mit.edu	37	17	10427836	10427836	+	Missense_Mutation	SNP	C	C	T	rs147813930		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:10427836C>T	uc010coi.3	-	34	5250	c.5122G>A	c.(5122-5124)Gca>Aca	p.A1708T	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1708T|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1708					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.I1707I(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						TCCTGTTCTGCGATTTTTCTG	0.547													T	10427836	C	T	10427836	3	4	63	1	0	0	0	0	1	0	0	0	10035	768	27	1	727	1	MYH2	17	10427836	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		10427836	70767374	57	4116											
KRT16	3868	broad.mit.edu	37	17	39767641	39767641	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:39767641C>T	uc002hxg.4	-	2	866	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	243	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCCTTCAGGCCTTCGATCTGC	0.642													T	39767641	C	T	39767641	3	4	63	1	0	0	0	0	1	0	0	0	8453	681	24	3	718	3	KRT16	17	39767641	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	29339805	39767641	41427569	58	4117											
KIF2B	84643	broad.mit.edu	37	17	51900949	51900949	+	Silent	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:51900949C>T	uc002iua.2	+	0	711	c.555C>T	c.(553-555)taC>taT	p.Y185Y	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	185					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCCCAACTACGAAATCATGC	0.562													T	51900949	C	T	51900949	2	4	63	1	0	0	0	0	0	0	0	1	8298	547	19	1		1	KIF2B	17	51900949	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	12133308	51900949	29294261	59	4118											
ANKFN1	162282	broad.mit.edu	37	17	54452045	54452045	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:54452045G>A	uc002iun.1	+	6	924	c.889G>A	c.(889-891)Gtc>Atc	p.V297I		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	297	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCCTCTTAGCGTCAATGCAGC	0.458													A	54452045	G	A	54452045	3	1	63	1	0	0	0	0	1	0	0	0	625	1145	40	1	915	1	ANKFN1	17	54452045	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	2551096	54452045	26743165	60	4119											
MC5R	4161	broad.mit.edu	37	18	13826256	13826256	+	Silent	SNP	C	C	T	rs45575841	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr18:13826256C>T	uc010xaf.2	+	0	714	c.492C>T	c.(490-492)gcC>gcT	p.A164A		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	164					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CCATCATCGCCGGCATCTGGG	0.572													T	13826256	C	T	13826256	2	4	63	1	0	0	0	0	0	0	0	1	9367	639	23	2		2	MC5R	18	13826256	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		13826256	64250992	61	4120											
CYP4F2	8529	broad.mit.edu	37	19	15990424	15990424	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr19:15990424G>A	uc002nbs.1	-	10	1354	c.1304C>T	c.(1303-1305)cCg>cTg	p.P435L	CYP4F2_uc010xot.1_Missense_Mutation_p.P286L	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	435					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCAGGGTCCGGCCACACAGC	0.567													A	15990424	G	A	15990424	3	1	63	1	0	0	0	0	1	0	0	0	4188	1116	39	2	270	2	CYP4F2	19	15990424	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08		15990424	43138559	62	4121											
MATN4	8785	broad.mit.edu	37	20	43929967	43929967	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr20:43929967A>G	uc002xnn.2	-	3	947	c.760T>C	c.(760-762)Tgc>Cgc	p.C254R	MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.C202R|MATN4_uc002xnr.1_Missense_Mutation_p.C254R	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	295	EGF-like 1; incomplete.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCACCCCTGCAGCTCCTCTGG	0.587											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	43929967	A	G	43929967	3	3	63	1	0	0	0	0	1	0	0	0	9336	188	7	4	1013	4	MATN4	20	43929967	Missense_Mutation	SNP	A	TCGA-06-0749-01A-01W-0348-08		43929967	19095553	63	4122											
OPRL1	4987	broad.mit.edu	37	20	62724089	62724089	+	Missense_Mutation	SNP	C	C	T	rs148535906		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr20:62724089C>T	uc002yic.3	+	2	435	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPRL1_uc002yid.3_Missense_Mutation_p.P6S|OPRL1_uc021wgs.1_Missense_Mutation_p.P6S|OPRL1_uc002yif.4_Missense_Mutation_p.P6S	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	6					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)					GCCCCTCTTCCCCGCGCCGTT	0.632													T	62724089	C	T	62724089	3	4	63	1	0	0	0	0	1	0	0	0	10886	623	22	3	18	3	OPRL1	20	62724089	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	18794122	62724089	301431	64	4123											
KCNJ15	3772	broad.mit.edu	37	21	39671533	39671533	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr21:39671533C>T	uc021wjc.1	+	0	350	c.350C>T	c.(349-351)gCg>gTg	p.A117V	KCNJ15_uc002ywv.3_Missense_Mutation_p.A117V|KCNJ15_uc002yww.3_Missense_Mutation_p.A117V|KCNJ15_uc002ywx.3_Missense_Mutation_p.A117V	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	117					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTCACTGGGGCGTTTCTCTTT	0.493													T	39671533	C	T	39671533	3	4	63	1	0	0	0	0	1	0	0	0	8049	768	27	1	352	1	KCNJ15	21	39671533	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		39671533	8458362	65	4124											
UMODL1	89766	broad.mit.edu	37	21	43522316	43522316	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr21:43522316C>A	uc002zag.1	+	7	1227	c.1227C>A	c.(1225-1227)caC>caA	p.H409Q	UMODL1_uc002zad.1_Missense_Mutation_p.H337Q|UMODL1_uc002zae.1_Missense_Mutation_p.H337Q|UMODL1_uc002zaf.1_Missense_Mutation_p.H409Q|UMODL1_uc010gow.1_Missense_Mutation_p.H201Q|UMODL1_uc002zai.1_Missense_Mutation_p.H60Q|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.H60Q|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.H154Q|C21orf128_uc002zak.2_3'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	409	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTGTAAACCACAACCTGACGG	0.428													A	43522316	C	A	43522316	3	1	63	1	0	0	0	0	1	0	0	0	16977	477	17	5	1257	5	UMODL1	21	43522316	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	3850783	43522316	4607579	66	4125											
STAG2	10735	broad.mit.edu	37	X	123205046	123205047	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chrX:123205046_123205047delTA	uc004eua.3	+	24	2810_2811	c.2406_2407delTA	c.(2404-2409)attatgfs	p.I802fs	STAG2_uc004etz.4_Frame_Shift_Del_p.I802fs|STAG2_uc004eub.3_Frame_Shift_Del_p.I802fs|STAG2_uc004euc.3_Frame_Shift_Del_p.I802fs|STAG2_uc004eud.3_Frame_Shift_Del_p.I802fs|STAG2_uc004eue.3_Frame_Shift_Del_p.I802fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	802					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.Q801*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCCATCAGATTATGTCAGGAGG	0.376													-	123205047	TA	-	123205046	7	5	63	1	0	1	0	1	0	0	0	0	15242	1742	61	0	2496	0	STAG2	23	123205046	Frame_Shift_Del	DEL	TA	TCGA-06-0749-01A-01W-0348-08		123205046	32065514	67	4126											
SCNN1D	6339	broad.mit.edu	37	1	1222331	1222331	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:1222331C>T	uc001adt.1	+	7	1321	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	SCNN1D_uc001adu.1_Silent_p.S201S|SCNN1D_uc001adw.2_Silent_p.S267S|SCNN1D_uc001adv.2_Silent_p.S201S|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ACTCGGGCAGCCGGGTCAGAG	0.697													T	1222331	C	T	1222331	2	4	64	1	0	0	0	0	0	0	0	1	13929	738	26	3		3	SCNN1D	1	1222331	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		1222331	248028290	1	4127											
SYDE2	84144	broad.mit.edu	37	1	85656020	85656020	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:85656020C>A	uc009wcm.3	-	1	1210	c.1161G>T	c.(1159-1161)ttG>ttT	p.L387F	SYDE2_uc001dku.4_Missense_Mutation_p.L387F	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	387					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CACCAAAACTCAAGGCACTTG	0.448													A	85656020	C	A	85656020	3	1	64	1	0	0	0	0	1	0	0	0	15433	825	29	5	2447	5	SYDE2	1	85656020	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	84433689	85656020	163594601	2	4128											
FLG	2312	broad.mit.edu	37	1	152281389	152281389	+	Silent	SNP	C	C	T	rs138652718	byFrequency	TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:152281389C>T	uc001ezu.1	-	2	6009	c.5973G>A	c.(5971-5973)gcG>gcA	p.A1991A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1991	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			CATGGGATGACGCAGCCTGTC	0.572									Ichthyosis				T	152281389	C	T	152281389	2	4	64	1	0	0	0	0	0	0	0	1	5922	523	19	1		1	FLG	1	152281389	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	66625369	152281389	96969232	3	4129											
KLHL20	27252	broad.mit.edu	37	1	173744944	173744944	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:173744944G>T	uc001gjc.3	+	9	1780	c.1601G>T	c.(1600-1602)tGg>tTg	p.W534L	KLHL20_uc010pmr.2_Missense_Mutation_p.W345L|KLHL20_uc009wwf.3_Missense_Mutation_p.W516L	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	534					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACCAACCAGTGGTCTCCAGTG	0.478													T	173744944	G	T	173744944	3	4	64	1	0	0	0	0	1	0	0	0	8375	1357	47	5	1635	5	KLHL20	1	173744944	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	21463555	173744944	75505677	4	4130											
GPR17	2840	broad.mit.edu	37	2	128408380	128408380	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr2:128408380G>T	uc010yzn.2	+	3	766	c.155G>T	c.(154-156)gGc>gTc	p.G52V	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Missense_Mutation_p.G52V|GPR17_uc010yzo.2_Missense_Mutation_p.G24V|GPR17_uc002tpd.3_Missense_Mutation_p.G24V	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	52						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		gagcaatgtggccaggagacg	0.547											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128408380	G	T	128408380	3	4	64	1	0	0	0	0	1	0	0	0	6667	1203	42	5	161	5	GPR17	2	128408380	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		128408380	114790993	5	4131											
FAM123C	205147	broad.mit.edu	37	2	131521709	131521709	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr2:131521709C>T	uc021voy.1	+	0	2064	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	FAM123C_uc002trw.2_Silent_p.N688N|FAM123C_uc010fmv.2_Silent_p.N688N|FAM123C_uc010fms.1_Silent_p.N688N|FAM123C_uc010fmt.1_Silent_p.N688N|FAM123C_uc010fmu.1_Silent_p.N688N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	688										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TCAGCTCAAACGAACAGCCCC	0.652													T	131521709	C	T	131521709	2	4	64	1	0	0	0	0	0	0	0	1	5424	535	19	1		1	FAM123C	2	131521709	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	3113329	131521709	111677664	6	4132											
TMEM144	55314	broad.mit.edu	37	4	159136389	159136389	+	Silent	SNP	C	C	G	rs149733307		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr4:159136389C>G	uc003ipx.3	+	3	676	c.156C>G	c.(154-156)gcC>gcG	p.A52A	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	52						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGTTGGTTGCCTTGGTTGTCA	0.383													G	159136389	C	G	159136389	2	3	64	1	0	0	0	0	0	0	0	1	16055	668	24	5		5	TMEM144	4	159136389	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		159136389	32017887	7	4133											
PIK3R1	5295	broad.mit.edu	37	5	67591246	67591246	+	Splice_Site	SNP	A	A	G			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:67591246A>G	uc003jva.3	+	14	2326	c.1746_splice	c.e14-2	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(10)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACTGTTTTTCAGGTGGTTGAC	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591246	A	G	67591246	5	3	64	1	0	0	0	0	0	0	1	0	11918	202	7	4	1924	4	PIK3R1	5	67591246	Splice_Site	SNP	A	TCGA-06-0750-01A-01W-0348-08		67591246	113324014	8	4134											
FSTL4	23105	broad.mit.edu	37	5	132535036	132535036	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:132535036G>T	uc003kyn.1	-	15	2498	c.2280C>A	c.(2278-2280)gaC>gaA	p.D760E	FSTL4_uc003kym.1_Missense_Mutation_p.D409E	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	760						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAACAGCAGGTCCGGCTCCG	0.582													T	132535036	G	T	132535036	3	4	64	1	0	0	0	0	1	0	0	0	6079	1252	44	5	252	5	FSTL4	5	132535036	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	64943790	132535036	48380224	9	4135											
ARHGAP26	23092	broad.mit.edu	37	5	142281566	142281566	+	Missense_Mutation	SNP	G	G	A	rs148543665		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:142281566G>A	uc011dbj.2	+	6	699	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	ARHGAP26_uc003lmt.3_Missense_Mutation_p.G222R|ARHGAP26_uc003lmw.3_Missense_Mutation_p.G222R	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	222					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.G222W(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGGATTTCGGGGACTTCAA	0.448													A	142281566	G	A	142281566	3	1	64	1	0	0	0	0	1	0	0	0	875	1116	39	2	690	2	ARHGAP26	5	142281566	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	9746530	142281566	38633694	10	4136											
SNX14	57231	broad.mit.edu	37	6	86253476	86253476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr6:86253476C>A	uc003pkr.3	-	12	1304	c.1111G>T	c.(1111-1113)Gaa>Taa	p.E371*	SNX14_uc003pkp.3_Nonsense_Mutation_p.E234*|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Nonsense_Mutation_p.E319*|SNX14_uc003pks.3_Nonsense_Mutation_p.E327*|SNX14_uc003pkt.3_Nonsense_Mutation_p.E371*	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	371	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCATTAAATTCCTCTAACAAA	0.279													A	86253476	C	A	86253476	4	1	64	1	0	0	0	0	0	1	0	0	14885	864	30	5	1797	5	SNX14	6	86253476	Nonsense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		86253476	84861591	11	4137											
EGFR	1956	broad.mit.edu	37	7	55221821	55221822	+	Missense_Mutation	DNP	GC	GC	AA	rs149840192		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:55221821_55221822GC>AA	uc003tqk.3	+	6	1111_1112	c.865_866GC>AA	c.(865-867)gcc>AAc	p.A289N	EGFR_uc003tqh.3_Missense_Mutation_p.A289N|EGFR_uc003tqi.3_Missense_Mutation_p.A289N|EGFR_uc003tqj.3_Missense_Mutation_p.A289N|EGFR_uc022adm.1_Missense_Mutation_p.A289N|EGFR_uc010kzg.2_Missense_Mutation_p.A244N|EGFR_uc022adn.1_Missense_Mutation_p.A244N|EGFR_uc011kco.2_Missense_Mutation_p.A236N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289T(6)|p.A289D(6)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGTG	0.589		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			AA	55221822	GC	AA	55221821	3	1	64	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	DNP	GC	TCGA-06-0750-01A-01W-0348-08		55221821	103916842	12	4138											
EGFR	1956	broad.mit.edu	37	7	55233037	55233037	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:55233037C>G	uc003tqk.3	+	14	2033	c.1787C>G	c.(1786-1788)cCg>cGg	p.P596R	EGFR_uc003tqi.3_Missense_Mutation_p.P596R|EGFR_uc003tqj.3_Missense_Mutation_p.P596R|EGFR_uc022adm.1_Missense_Mutation_p.P596R|EGFR_uc010kzg.2_Missense_Mutation_p.P551R|EGFR_uc022adn.1_Missense_Mutation_p.P551R|EGFR_uc011kco.2_Missense_Mutation_p.P543R|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(7)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55233037	C	G	55233037	3	3	64	1	0	0	0	0	1	0	0	0	4967	652	23	5	1856	5	EGFR	7	55233037	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	11216	55233037	103905626	13	4139											
BPGM	669	broad.mit.edu	37	7	134346723	134346723	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:134346723C>T	uc003vrv.3	+	2	1005	c.464C>T	c.(463-465)tCg>tTg	p.S155L	BPGM_uc003vrw.3_Missense_Mutation_p.S155L	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	155					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CTGCCACGGTCGGAAAGCTTA	0.473													T	134346723	C	T	134346723	3	4	64	1	0	0	0	0	1	0	0	0	1488	893	31	2	466	2	BPGM	7	134346723	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	79113686	134346723	24791940	14	4140											
SLC34A3	142680	broad.mit.edu	37	9	140128961	140128961	+	Missense_Mutation	SNP	C	C	T	rs138798032		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr9:140128961C>T	uc022bqf.1	+	10	1408	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M	SLC34A3_uc011met.2_Missense_Mutation_p.T396M|SLC34A3_uc004cmf.1_Missense_Mutation_p.T396M	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	396					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGCGTCTTCACGGCGGCCGTC	0.721													T	140128961	C	T	140128961	3	4	64	1	0	0	0	0	1	0	0	0	14569	536	19	1	1225	1	SLC34A3	9	140128961	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		140128961	1084470	15	4141											
PHLDA2	7262	broad.mit.edu	37	11	2950491	2950491	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:2950491C>T	uc021qci.1	-	0	104	c.104G>A	c.(103-105)cGc>cAc	p.R35H	PHLDA2_uc001lxa.1_Missense_Mutation_p.R35H	NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 2 (PHLDA2), mRNA.	35	PH.				apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCTCAGGCGGTCGGAGGT	0.667													T	2950491	C	T	2950491	3	4	64	1	0	0	0	0	1	0	0	0	11849	768	27	1	358	1	PHLDA2	11	2950491	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		2950491	132056025	16	4142											
OR52J3	119679	broad.mit.edu	37	11	5068409	5068409	+	Silent	SNP	G	G	A	rs148600962		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:5068409G>A	uc010qyv.2	+	0	654	c.654G>A	c.(652-654)tcG>tcA	p.S218S		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCATCTCGTATGTTTACA	0.448													A	5068409	G	A	5068409	2	1	64	1	0	0	0	0	0	0	0	1	11122	1132	40	1		1	OR52J3	11	5068409	Silent	SNP	G	TCGA-06-0750-01A-01W-0348-08	2117918	5068409	129938107	17	4143											
OR5P2	120065	broad.mit.edu	37	11	7818191	7818191	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:7818191G>A	uc001mfp.1	-	0	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGAAAGCCGCTGAACCAAG	0.483													A	7818191	G	A	7818191	3	1	64	1	0	0	0	0	1	0	0	0	11178	1087	38	1	673	1	OR5P2	11	7818191	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	2749782	7818191	127188325	18	4144											
OR5W2	390148	broad.mit.edu	37	11	55681318	55681318	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:55681318C>T	uc010rir.2	-	0	741	c.741G>A	c.(739-741)gcG>gcA	p.A247A		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A247A(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATTGCAACCGCAGATAAGT	0.403													T	55681318	C	T	55681318	2	4	64	1	0	0	0	0	0	0	0	1	11185	639	23	2		2	OR5W2	11	55681318	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	47863127	55681318	79325198	19	4145											
OR5T2	219464	broad.mit.edu	37	11	55999905	55999905	+	Missense_Mutation	SNP	C	C	T	rs146086539		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:55999905C>T	uc010rjc.2	-	0	757	c.757G>A	c.(757-759)Gtt>Att	p.V253I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAGATCAGAACAATCAGGATA	0.448													T	55999905	C	T	55999905	3	4	64	1	0	0	0	0	1	0	0	0	11182	478	17	3	321	3	OR5T2	11	55999905	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	318587	55999905	79006611	20	4146											
PDE2A	5138	broad.mit.edu	37	11	72293532	72293532	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:72293532A>G	uc010rrc.2	-	20	2053	c.1807T>C	c.(1807-1809)Ttc>Ctc	p.F603L	PDE2A_uc001oso.3_Missense_Mutation_p.F582L|PDE2A_uc010rra.2_Missense_Mutation_p.F596L|PDE2A_uc001osn.3_Missense_Mutation_p.F347L|PDE2A_uc010rrb.2_Missense_Mutation_p.F594L|PDE2A_uc010rrd.2_Missense_Mutation_p.F488L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	603					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GTATAGGTGAAACTTGCAAAA	0.537													G	72293532	A	G	72293532	3	3	64	1	0	0	0	0	1	0	0	0	11636	14	1	4	1062	4	PDE2A	11	72293532	Missense_Mutation	SNP	A	TCGA-06-0750-01A-01W-0348-08	16293627	72293532	62712984	21	4147											
OR8B4	283162	broad.mit.edu	37	11	124294255	124294255	+	Silent	SNP	G	G	A	rs146995996	byFrequency	TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:124294255G>A	uc010sak.2	-	0	513	c.513C>T	c.(511-513)aaC>aaT	p.N171N		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGTCAATGACGTTGGAATCAC	0.512													A	124294255	G	A	124294255	2	1	64	1	0	0	0	0	0	0	0	1	11229	1136	40	1		1	OR8B4	11	124294255	Silent	SNP	G	TCGA-06-0750-01A-01W-0348-08	52000723	124294255	10712261	22	4148											
SRPR	6734	broad.mit.edu	37	11	126134309	126134309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:126134309C>A	uc001qdh.3	-	11	1829	c.1651G>T	c.(1651-1653)Gga>Tga	p.G551*	SRPR_uc010sbm.2_Nonsense_Mutation_p.G523*	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	551					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AAGGCTTCTCCTACAAACAGC	0.517													A	126134309	C	A	126134309	4	1	64	1	0	0	0	0	0	1	0	0	15161	690	24	5	277	5	SRPR	11	126134309	Nonsense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	1840054	126134309	8872207	23	4149											
ZFC3H1	196441	broad.mit.edu	37	12	72057129	72057129	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr12:72057129G>A	uc001swo.2	-	0	621	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	ZFC3H1_uc010sts.2_Missense_Mutation_p.R88C|ZFC3H1_uc001swp.3_Missense_Mutation_p.R88C|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	88	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCCGCGAGCGTGAGAAATTC	0.652											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	72057129	G	A	72057129	3	1	64	1	0	0	0	0	1	0	0	0	17630	1145	40	1	5847	1	ZFC3H1	12	72057129	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		72057129	61794766	24	4150											
NR1H4	9971	broad.mit.edu	37	12	100904745	100904745	+	Missense_Mutation	SNP	G	G	A	rs113431969		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr12:100904745G>A	uc001tht.2	+	1	327	c.299G>A	c.(298-300)cGt>cAt	p.R100H	NR1H4_uc001thq.2_Missense_Mutation_p.R90H|NR1H4_uc001thp.2_Missense_Mutation_p.R90H|NR1H4_uc001thr.2_Missense_Mutation_p.R90H|NR1H4_uc010svk.2_Missense_Mutation_p.R90H|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.R100H	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	100					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GAACTCAGGCGTATGCCAGCT	0.522													A	100904745	G	A	100904745	3	1	64	1	0	0	0	0	1	0	0	0	10619	1145	40	1	275	1	NR1H4	12	100904745	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	28847616	100904745	32947150	25	4151											
GABRA5	2558	broad.mit.edu	37	15	27114460	27114460	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr15:27114460T>C	uc001zbd.2	+	2	597	c.65T>C	c.(64-66)aTg>aCg	p.M22T	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.M22T	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	22					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			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)	TGTATTTCCATGAACTTATCC	0.388													C	27114460	T	C	27114460	3	2	64	1	0	0	0	0	1	0	0	0	6164	1464	51	4	67	4	GABRA5	15	27114460	Missense_Mutation	SNP	T	TCGA-06-0750-01A-01W-0348-08		27114460	75416932	26	4152											
CHSY1	22856	broad.mit.edu	37	15	101718018	101718018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr15:101718018G>A	uc021sxt.1	-	2	2460	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	CHSY1_uc010usd.2_Nonsense_Mutation_p.Q390*	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	662					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGTCATACTGGCTGAAGATG	0.428													A	101718018	G	A	101718018	4	1	64	1	0	0	0	0	0	1	0	0	3412	1357	47	3	428	3	CHSY1	15	101718018	Nonsense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	74603558	101718018	813374	27	4153											
RLTPR	146206	broad.mit.edu	37	16	67683416	67683417	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr16:67683416_67683417insT	uc002etn.3	+	19	1933_1934	c.1813_1814insT	c.(1813-1815)ctafs	p.L605fs	RLTPR_uc010cel.1_Frame_Shift_Ins_p.L598fs|RLTPR_uc010vjr.2_Frame_Shift_Ins_p.L569fs	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	605	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACTCCGGGCCCTAGCCACCAAT	0.629													T	67683417	-	T	67683416	7	5	64	1	0	1	1	0	0	0	0	0	13394	680	24	0	1891	0	RLTPR	16	67683416	Frame_Shift_Ins	INS	-	TCGA-06-0750-01A-01W-0348-08		67683416	22671337	28	4154											
DPEP1	1800	broad.mit.edu	37	16	89704306	89704306	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr16:89704306G>A	uc010cin.3	+	9	1195	c.992G>A	c.(991-993)aGg>aAg	p.R331K	DPEP1_uc002fnr.4_Missense_Mutation_p.R331K|DPEP1_uc002fns.4_Missense_Mutation_p.R331K	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	331					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTGCTCAGGAGGAACTGGACG	0.627													A	89704306	G	A	89704306	3	1	64	1	0	0	0	0	1	0	0	0	4713	1000	35	3	1026	3	DPEP1	16	89704306	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	22020890	89704306	650447	29	4155											
FXR2	9513	broad.mit.edu	37	17	7495610	7495610	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:7495610G>A	uc002gia.2	-	15	2253	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	630						cytosolic large ribosomal subunit	protein binding|RNA binding	p.R630C(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGTTTAGTGCGTTCCAGGGGT	0.522													A	7495610	G	A	7495610	3	1	64	1	0	0	0	0	1	0	0	0	6116	1145	40	1	41	1	FXR2	17	7495610	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		7495610	73699600	30	4156											
FKBP10	60681	broad.mit.edu	37	17	39975472	39975472	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:39975472C>T	uc002hxv.2	+	4	1063	c.738C>T	c.(736-738)atC>atT	p.I246I	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	246	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGACAGTGATCCCCCCACAGG	0.607													T	39975472	C	T	39975472	2	4	64	1	0	0	0	0	0	0	0	1	5902	845	30	3		3	FKBP10	17	39975472	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	32479862	39975472	41219738	31	4157											
NPEPPS	9520	broad.mit.edu	37	17	45681356	45681356	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:45681356C>T	uc002ilr.4	+	15	2039	c.1816C>T	c.(1816-1818)Cgt>Tgt	p.R606C	NPEPPS_uc010wkt.2_Missense_Mutation_p.R602C|NPEPPS_uc010wku.2_Missense_Mutation_p.R570C|NPEPPS_uc010wkv.2_Missense_Mutation_p.R160C|NPEPPS_uc002ils.1_Missense_Mutation_p.R39C	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	606					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ACCAGGCATTCGTGACCTTTC	0.433													T	45681356	C	T	45681356	3	4	64	1	0	0	0	0	1	0	0	0	10575	884	31	2	1878	2	NPEPPS	17	45681356	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	5705884	45681356	35513854	32	4158											
DSG1	1828	broad.mit.edu	37	18	28934664	28934664	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:28934664C>T	uc002kwp.3	+	14	2717	c.2505C>T	c.(2503-2505)gtC>gtT	p.V835V	DSG1_uc010xbp.2_Silent_p.V194V	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	835					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGTAATGTCACTGTGACCG	0.512													T	28934664	C	T	28934664	2	4	64	1	0	0	0	0	0	0	0	1	4776	813	29	3		3	DSG1	18	28934664	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		28934664	49142584	33	4159											
SLC14A2	8170	broad.mit.edu	37	18	43212315	43212315	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:43212315G>T	uc002lbe.3	+	5	1338	c.522_splice	c.e5-1	p.R174_splice	SLC14A2_uc002lbb.3_Splice_Site_p.R174_splice|SLC14A2_uc010dnj.3_Splice_Site_p.R174_splice	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	174						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACCGCCAGGTCTGCCATTG	0.512													T	43212315	G	T	43212315	3	4	64	1	0	0	0	0	1	0	0	0	14397	1275	44	5	536	5	SLC14A2	18	43212315	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	14277651	43212315	34864933	34	4160											
MC4R	4160	broad.mit.edu	37	18	58038973	58038973	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:58038973T>A	uc002lie.1	-	0	1029	c.610A>T	c.(610-612)Atg>Ttg	p.M204L		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	204					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AGAGCCAGCATGGTGAAGAAC	0.498													A	58038973	T	A	58038973	3	1	64	1	0	0	0	0	1	0	0	0	9366	1464	51	5	392	5	MC4R	18	58038973	Missense_Mutation	SNP	T	TCGA-06-0750-01A-01W-0348-08	14826658	58038973	20038275	35	4161											
MAP1S	55201	broad.mit.edu	37	19	17844106	17844106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:17844106G>T	uc002nhe.1	+	5	2902	c.2893G>T	c.(2893-2895)Gag>Tag	p.E965*	MAP1S_uc010xpv.1_Nonsense_Mutation_p.E939*	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	965	Necessary for association with actin (By similarity).|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.E965*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCTGGTGGATGAGGAGTTCTT	0.697													T	17844106	G	T	17844106	4	4	64	1	0	0	0	0	0	1	0	0	9234	1291	45	5	2915	5	MAP1S	19	17844106	Nonsense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		17844106	41284877	36	4162											
ZNF98	148198	broad.mit.edu	37	19	22574462	22574462	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:22574462T>A	uc002nqt.2	-	3	1697	c.1575A>T	c.(1573-1575)aaA>aaT	p.K525N		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTTAAAGGCTTTGCCGCATT	0.388													A	22574462	T	A	22574462	3	1	64	1	0	0	0	0	1	0	0	0	18200	1606	56	5	147	5	ZNF98	19	22574462	Missense_Mutation	SNP	T	TCGA-06-0750-01A-01W-0348-08	4730356	22574462	36554521	37	4163											
CD37	951	broad.mit.edu	37	19	49840274	49840274	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:49840274G>A	uc002pnd.3	+	2	372	c.251G>A	c.(250-252)cGc>cAc	p.R84H	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Missense_Mutation_p.R84H|CD37_uc010yan.1_Missense_Mutation_p.R16H|CD37_uc002pnf.3_Missense_Mutation_p.R56H|CD37_uc002pne.3_Missense_Mutation_p.R16H	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	84						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		AAGGAGCTCCGCTGCCTCCTG	0.622													A	49840274	G	A	49840274	3	1	64	1	0	0	0	0	1	0	0	0	3008	1087	38	1	261	1	CD37	19	49840274	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	27265812	49840274	9288709	38	4164											
CST7	8530	broad.mit.edu	37	20	24930092	24930092	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr20:24930092C>A	uc002wtx.2	+	0						NM_003650	NP_003641	O76096	CYTF_HUMAN	Homo sapiens cystatin F (leukocystatin) (CST7), mRNA.						immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CCTGAGAAGGCACTGCACGGC	0.672													A	24930092	C	A	24930092	3	1	64	1	0	0	0	0	1	0	0	0	3977	725	25	5		5	CST7	20	24930092	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		24930092	38095428	39	4165											
PHF20	51230	broad.mit.edu	37	20	34487354	34487354	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr20:34487354G>T	uc002xek.1	+	9	1456	c.1345G>T	c.(1345-1347)Gac>Tac	p.D449Y	PHF20_uc002xei.1_Missense_Mutation_p.D449Y|PHF20_uc010gfo.1_Missense_Mutation_p.D449Y|PHF20_uc002xej.1_Missense_Mutation_p.D333Y	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGTCGACCTAGACCATAAGTT	0.348													T	34487354	G	T	34487354	3	4	64	1	0	0	0	0	1	0	0	0	11831	942	33	5	1379	5	PHF20	20	34487354	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	9557262	34487354	28538166	40	4166											
TMPRSS3	64699	broad.mit.edu	37	21	43803180	43803180	+	Silent	SNP	C	C	T			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr21:43803180C>T	uc002zbb.2	-	7	945	c.744G>A	c.(742-744)acG>acA	p.T248T	TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.T121T|TMPRSS3_uc002zba.2_Silent_p.T121T|TMPRSS3_uc002zbc.2_Silent_p.T248T|TMPRSS3_uc002zbd.3_Silent_p.T248T	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	248	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCCACAGGGGCGTGATGACAG	0.602													T	43803180	C	T	43803180	2	4	64	1	0	0	0	0	0	0	0	1	16245	755	27	1		1	TMPRSS3	21	43803180	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		43803180	4326715	41	4167											
GGT5	2687	broad.mit.edu	37	22	24622188	24622188	+	Missense_Mutation	SNP	C	C	T	rs149456868		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr22:24622188C>T	uc002zzp.4	-	7	1502	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	GGT5_uc002zzo.4_Missense_Mutation_p.R362H|GGT5_uc002zzr.4_Missense_Mutation_p.R330H|GGT5_uc002zzq.4_Missense_Mutation_p.R330H|GGT5_uc011ajm.2_Missense_Mutation_p.R285H|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	362					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.R362C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GATCTGTTGGCGGATGAGCTG	0.692													T	24622188	C	T	24622188	3	4	64	1	0	0	0	0	1	0	0	0	6362	768	27	1	698	1	GGT5	22	24622188	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		24622188	26682378	42	4168											
DMD	1756	broad.mit.edu	37	X	32663088	32663088	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrX:32663088G>C	uc004dda.1	-	9	1386	c.1142C>G	c.(1141-1143)aCt>aGt	p.T381S	DMD_uc004dcz.2_Missense_Mutation_p.T258S|DMD_uc004dcy.1_Missense_Mutation_p.T377S|DMD_uc004ddb.1_Missense_Mutation_p.T373S|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.T373S|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Missense_Mutation_p.T92S	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	381					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			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)				TACCTCATGAGTATGAAACTG	0.353													C	32663088	G	C	32663088	3	2	64	1	0	0	0	0	1	0	0	0	4580	1029	36	5	10438	5	DMD	23	32663088	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		32663088	122607472	43	4169											
PCDH11X	27328	broad.mit.edu	37	X	91132696	91132696	+	Missense_Mutation	SNP	C	C	T	rs62621113		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrX:91132696C>T	uc004efk.2	+	1	2302	c.1457C>T	c.(1456-1458)aCg>aTg	p.T486M	PCDH11X_uc004efl.2_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.2_Missense_Mutation_p.T486M|PCDH11X_uc004efm.2_Missense_Mutation_p.T486M|PCDH11X_uc004efn.2_Missense_Mutation_p.T486M|PCDH11X_uc004efo.2_Missense_Mutation_p.T486M|PCDH11X_uc004efh.2_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	486	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						ATCCAGTTGACGAAAGTAAGT	0.438													T	91132696	C	T	91132696	3	4	64	1	0	0	0	0	1	0	0	0	11508	536	19	1	1463	1	PCDH11X	23	91132696	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	58469608	91132696	64137864	44	4170											
PCDH11Y	83259	broad.mit.edu	37	Y	4968500	4968500	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrY:4968500A>G	uc004fqo.3	+	1	3615	c.2881A>G	c.(2881-2883)Aag>Gag	p.K961E	PCDH11Y_uc010nwg.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fql.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqm.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqn.1_Missense_Mutation_p.K961E|PCDH11Y_uc004fqp.1_Missense_Mutation_p.K732E	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	961					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACTACTTTCAAGCCTGACAG	0.458													G	4968500	A	G	4968500	3	3	64	1	0	0	0	0	1	0	0	0	11509	131	5	4	2923	4	PCDH11Y	24	4968500	Missense_Mutation	SNP	A	TCGA-06-0750-01A-01W-0348-08		4968500	54405066	45	4171											
AGRN	375790	broad.mit.edu	37	1	981607	981607	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:981607G>A	uc001ack.2	+	16	2923	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	958	Kazal-like 9.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCGCCAGGGCCTGCAAATC	0.612													A	981607	G	A	981607	3	1	65	1	0	0	0	0	1	0	0	0	397	1203	42	3	2939	3	AGRN	1	981607	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		981607	248269014	1	4172											
ZNF362	149076	broad.mit.edu	37	1	33745881	33745881	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:33745881G>A	uc001bxc.1	+	4	676	c.506G>A	c.(505-507)aGc>aAc	p.S169N		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGATCACCAGCCCCCCTCTC	0.677													A	33745881	G	A	33745881	3	1	65	1	0	0	0	0	1	0	0	0	17865	971	34	3	520	3	ZNF362	1	33745881	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	32764274	33745881	215504740	2	4173											
MAP7D1	55700	broad.mit.edu	37	1	36636835	36636835	+	Missense_Mutation	SNP	C	C	T	rs2296266	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:36636835C>T	uc001bzz.3	+	1	526	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	MAP7D1_uc001caa.3_Missense_Mutation_p.R104W|MAP7D1_uc001cab.3_Missense_Mutation_p.R104W|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	104	Pro-rich.		R -> W (in dbSNP:rs2296266).			cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CATGGGCCCACGGGATGCCAG	0.662													T	36636835	C	T	36636835	3	4	65	1	0	0	0	0	1	0	0	0	9267	527	19	1	316	1	MAP7D1	1	36636835	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	2890954	36636835	212613786	3	4174											
TM2D1	83941	broad.mit.edu	37	1	62190731	62190731	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:62190731C>A	uc001czz.1	-	0	365	c.62G>T	c.(61-63)gGt>gTt	p.G21V		NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN	Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.	21					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CCACAGGACACCAACGAGTCT	0.657													A	62190731	C	A	62190731	3	1	65	1	0	0	0	0	1	0	0	0	15960	507	18	5	585	5	TM2D1	1	62190731	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	25553896	62190731	187059890	4	4175											
FLG	2312	broad.mit.edu	37	1	152282713	152282713	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:152282713G>C	uc001ezu.1	-	2	4685	c.4649C>G	c.(4648-4650)tCa>tGa	p.S1550*		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1550	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GCCGTCTCCTGATTGTTCCTC	0.592									Ichthyosis				C	152282713	G	C	152282713	4	2	65	1	0	0	0	0	0	1	0	0	5922	1294	45	5	7540	5	FLG	1	152282713	Nonsense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	90091982	152282713	96967908	5	4176											
TMEM198	130612	broad.mit.edu	37	2	220414057	220414057	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr2:220414057A>G	uc002vme.3	+	4	1511	c.926A>G	c.(925-927)aAt>aGt	p.N309S	TMEM198_uc002vmf.3_Missense_Mutation_p.N309S|MIR3132_uc021vxc.1_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	309						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AAACGCTTCAATGGAGACGTC	0.627													G	220414057	A	G	220414057	3	3	65	1	0	0	0	0	1	0	0	0	16116	101	4	4	936	4	TMEM198	2	220414057	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08		220414057	22785316	6	4177											
TGFBR2	7048	broad.mit.edu	37	3	30732972	30732972	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:30732972C>T	uc003ceo.3	+	6	1967	c.1585C>T	c.(1585-1587)Ctc>Ttc	p.L529F	TGFBR2_uc003cen.3_Missense_Mutation_p.L554F	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	529	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)|p.R528H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGAGGCCCGTCTCACAGCCCA	0.592													T	30732972	C	T	30732972	3	4	65	1	0	0	0	0	1	0	0	0	15819	913	32	3	1690	3	TGFBR2	3	30732972	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		30732972	167289458	7	4178											
CELSR3	1951	broad.mit.edu	37	3	48696782	48696782	+	Missense_Mutation	SNP	C	C	T	rs144228630		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:48696782C>T	uc003cuf.1	-	2	3496	c.3496G>A	c.(3496-3498)Gaa>Aaa	p.E1166K	CELSR3_uc003cul.3_Missense_Mutation_p.E1096K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1096	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGGGGCCTTCGTCAGGGTCC	0.532													T	48696782	C	T	48696782	3	4	65	1	0	0	0	0	1	0	0	0	3223	893	31	2	6792	2	CELSR3	3	48696782	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	17963810	48696782	149325648	8	4179											
BSN	8927	broad.mit.edu	37	3	49699300	49699300	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:49699300C>T	uc003cxe.4	+	5	10136	c.10022C>T	c.(10021-10023)cCc>cTc	p.P3341L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3341					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCATGGGGCCCAAGCATCCC	0.572													T	49699300	C	T	49699300	3	4	65	1	0	0	0	0	1	0	0	0	1530	623	22	3	10044	3	BSN	3	49699300	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	1002518	49699300	148323130	9	4180											
CLDN18	51208	broad.mit.edu	37	3	137717874	137717874	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:137717874G>A	uc003ero.1	+	0	217	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	55					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.V54M(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TCCTGTGTCCGAGAGAGCTCT	0.602													A	137717874	G	A	137717874	3	1	65	1	0	0	0	0	1	0	0	0	3479	1058	37	2	166	2	CLDN18	3	137717874	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	88018574	137717874	60304556	10	4181											
ATP10D	57205	broad.mit.edu	37	4	47575010	47575010	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:47575010A>T	uc003gxk.1	+	17	3526	c.3362A>T	c.(3361-3363)aAt>aTt	p.N1121I	ATP10D_uc003gxl.1_Missense_Mutation_p.N369I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1121					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCTATAAGAATGTGGTATGT	0.433													T	47575010	A	T	47575010	3	4	65	1	0	0	0	0	1	0	0	0	1118	101	4	5	3428	5	ATP10D	4	47575010	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08		47575010	143579266	11	4182											
KIAA1211	57482	broad.mit.edu	37	4	57189704	57189704	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:57189704delA	uc003hbk.2	+	8	3740	c.3349delA	c.(3349-3351)aaafs	p.K1117fs	KIAA1211_uc010iha.2_Frame_Shift_Del_p.K1110fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1117										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)					CAGAGAGGCCAAACAGGCAGA	0.507													-	57189704	A	-	57189704	7	5	65	1	0	1	0	1	0	0	0	0	8215	131	5	0	3371	0	KIAA1211	4	57189704	Frame_Shift_Del	DEL	A	TCGA-06-0875-01A-01W-0424-08	9614694	57189704	133964572	12	4183											
TLR2	7097	broad.mit.edu	37	4	154626088	154626088	+	Missense_Mutation	SNP	C	C	T	rs121917864		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:154626088C>T	uc003inq.3	+	2	2248	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	TLR2_uc003inr.3_Missense_Mutation_p.R677W|TLR2_uc003ins.3_Missense_Mutation_p.R677W|TLR2_uc021xtl.1_Missense_Mutation_p.R677W	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	677	TIR.		R -> W.		cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TCTTCATAAGCGGGACTTCAT	0.443													T	154626088	C	T	154626088	3	4	65	1	0	0	0	0	1	0	0	0	15948	759	27	1	2031	1	TLR2	4	154626088	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	97436384	154626088	36528188	13	4184											
DNAH5	1767	broad.mit.edu	37	5	13735337	13735337	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:13735337G>A	uc003jfd.2	-	67	11706	c.11664C>T	c.(11662-11664)taC>taT	p.Y3888Y	DNAH5_uc003jfc.2_Silent_p.Y56Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3888					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y3888*(2)		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)					TGTGCTCCTCGTACAGCCCTC	0.458									Kartagener syndrome				A	13735337	G	A	13735337	2	1	65	1	0	0	0	0	0	0	0	1	4604	1140	40	1		1	DNAH5	5	13735337	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08		13735337	167179923	14	4185											
PCDHAC2	56137	broad.mit.edu	37	5	140256980	140256980	+	Silent	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:140256980C>T	uc003lic.2	+	0	2050	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.D641D	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	652	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGGCGGACGCTCCGCGCC	0.692													T	140256980	C	T	140256980	2	4	65	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHAC2	5	140256980	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	126521643	140256980	40658280	15	4186											
IL12B	3593	broad.mit.edu	37	5	158743755	158743755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:158743755G>A	uc003lxr.1	-	6	967	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RNU4ATAC_uc021ygw.1_5'Flank	NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	309	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGGGCCCGCACGCTAATG	0.562											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	158743755	G	A	158743755	3	1	65	1	0	0	0	0	1	0	0	0	7625	1086	38	1	65	1	IL12B	5	158743755	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	18486775	158743755	22171505	16	4187											
KDM1B	221656	broad.mit.edu	37	6	18207666	18207666	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:18207666C>T	uc003nco.1	+	8	1163	c.1088C>T	c.(1087-1089)gCc>gTc	p.A363V	KDM1B_uc003ncn.1_Missense_Mutation_p.A334V	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	566	SWIRM.				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			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GAATTCTTTGCCCAGTTTGCT	0.502													T	18207666	C	T	18207666	3	4	65	1	0	0	0	0	1	0	0	0	8123	739	26	3	1039	3	KDM1B	6	18207666	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		18207666	152907401	17	4188											
HIST1H3J	8356	broad.mit.edu	37	6	27858448	27858451	+	Frame_Shift_Del	DEL	GCGG	GCGG	-			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:27858448_27858451delGCGG	uc003nka.3	-	0	120_123	c.120_123delCCGC	c.(118-123)caccgcfs	p.H40fs	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA.	40					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CTGGCCTGTAGCGGTGGGGCTTCT	0.632													-	27858451	GCGG	-	27858448	7	5	65	1	0	1	0	1	0	0	0	0	7164	958	34	0	291	0	HIST1H3J	6	27858448	Frame_Shift_Del	DEL	GCGG	TCGA-06-0875-01A-01W-0424-08	9650782	27858448	143256619	18	4189											
PRSS35	167681	broad.mit.edu	37	6	84233953	84233953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:84233953C>T	uc003pjz.3	+	1	1033	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PRSS35_uc010kbm.3_Nonsense_Mutation_p.R265*|PRSS35_uc021zce.1_Nonsense_Mutation_p.R265*	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	265	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A264T(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTGGGCACGAGGAGGCAT	0.527													T	84233953	C	T	84233953	4	4	65	1	0	0	0	0	0	1	0	0	12624	528	19	1	795	1	PRSS35	6	84233953	Nonsense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	56375505	84233953	86881114	19	4190											
WISP3	8838	broad.mit.edu	37	6	112385979	112385979	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:112385979A>G	uc003pvo.3	+	2	558	c.422A>G	c.(421-423)gAg>gGg	p.E141G	WISP3_uc003pvm.3_Missense_Mutation_p.E123G|WISP3_uc003pvn.3_Non-coding_Transcript	NM_198239	NP_003871	O95389	WISP3_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.	123					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GTTGGGTGCGAGTTCAACCAG	0.458													G	112385979	A	G	112385979	3	3	65	1	0	0	0	0	1	0	0	0	17371	304	11	4	432	4	WISP3	6	112385979	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08	28152026	112385979	58729088	20	4191											
GPR141	353345	broad.mit.edu	37	7	37780069	37780069	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:37780069T>A	uc003tfm.1	+	0	74	c.74T>A	c.(73-75)tTc>tAc	p.F25Y	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	25						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCTCTACTTCATAGTGCTT	0.493													A	37780069	T	A	37780069	3	1	65	1	0	0	0	0	1	0	0	0	6649	1783	62	5	76	5	GPR141	7	37780069	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08		37780069	121358594	21	4192											
AMPH	273	broad.mit.edu	37	7	38530706	38530706	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:38530706C>T	uc003tgu.3	-	4	556	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	AMPH_uc003tgv.3_Missense_Mutation_p.V114M	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	114	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.V114M(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GACCCATCCACGAGTTTTTGA	0.403													T	38530706	C	T	38530706	3	4	65	1	0	0	0	0	1	0	0	0	588	536	19	1	1815	1	AMPH	7	38530706	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	750637	38530706	120607957	22	4193											
ABCB4	5244	broad.mit.edu	37	7	87035603	87035603	+	Splice_Site	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:87035603C>T	uc003uiv.1	-	26	3583	c.3507_splice	c.e26+1	p.H1169_splice	ABCB4_uc003uiw.1_Splice_Site_p.H1162_splice|ABCB4_uc003uix.1_Splice_Site_p.H1115_splice	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1169	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTTAACTTACGTGGGGTAAC	0.393													T	87035603	C	T	87035603	5	4	65	1	0	0	0	0	0	0	1	0	43	550	19	1	364	1	ABCB4	7	87035603	Splice_Site	SNP	C	TCGA-06-0875-01A-01W-0424-08	48504897	87035603	72103060	23	4194											
SAMD9L	219285	broad.mit.edu	37	7	92763951	92763951	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:92763951T>C	uc003umh.1	-	4	2550	c.1334A>G	c.(1333-1335)gAg>gGg	p.E445G	SAMD9L_uc003umj.1_Missense_Mutation_p.E445G|SAMD9L_uc003umi.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfb.1_Missense_Mutation_p.E445G|SAMD9L_uc003umk.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfc.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfd.1_Missense_Mutation_p.E445G|SAMD9L_uc022ahh.1_Missense_Mutation_p.E445G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	445										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGATCAAACTCCAACACAGC	0.343													C	92763951	T	C	92763951	3	2	65	1	0	0	0	0	1	0	0	0	13827	1551	54	4	3424	4	SAMD9L	7	92763951	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	5728348	92763951	66374712	24	4195											
TFPI2	7980	broad.mit.edu	37	7	93518519	93518519	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:93518519G>A	uc003umy.1	-	2	363	c.288C>T	c.(286-288)tgC>tgT	p.C96C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C96C|TFPI2_uc003una.1_Silent_p.C85C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	96	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTTGCAGCCGGCAAACTTTGG	0.398													A	93518519	G	A	93518519	2	1	65	1	0	0	0	0	0	0	0	1	15806	1195	42	3		3	TFPI2	7	93518519	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	754568	93518519	65620144	25	4196											
CYP3A43	64816	broad.mit.edu	37	7	99447306	99447306	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:99447306T>C	uc003ury.1	+	6	762	c.659T>C	c.(658-660)tTa>tCa	p.L220S	CYP3A43_uc003urx.1_Missense_Mutation_p.L220S|CYP3A43_uc003urz.1_Missense_Mutation_p.L220S|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Silent_p.F82F	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	220			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GATCCCTTTTTACTCTTAATA	0.294													C	99447306	T	C	99447306	3	2	65	1	0	0	0	0	1	0	0	0	4179	1764	61	4	685	4	CYP3A43	7	99447306	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	5928787	99447306	59691357	26	4197											
CTAGE4	100128553	broad.mit.edu	37	7	143882703	143882703	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:143882703G>A	uc010lpc.3	+	0	2156	c.2107G>A	c.(2107-2109)Ggt>Agt	p.G703S		NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN	Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.	703	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						TCCAATCAGCGGTCCATTGTT	0.502													A	143882703	G	A	143882703	3	1	65	1	0	0	0	0	1	0	0	0	3993	1116	39	2	2109	2	CTAGE4	7	143882703	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	44435397	143882703	15255960	27	4198											
ADAM32	203102	broad.mit.edu	37	8	39080734	39080734	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:39080734G>A	uc003xmt.4	+	13	1747	c.1502G>A	c.(1501-1503)cGt>cAt	p.R501H	ADAM32_uc011lch.2_Missense_Mutation_p.R402H|ADAM32_uc003xmu.4_Missense_Mutation_p.R395H|ADAM32_uc003xmv.3_Missense_Mutation_p.V23I	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	501	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTCGATGCACGTTGTGAGAGT	0.338													A	39080734	G	A	39080734	3	1	65	1	0	0	0	0	1	0	0	0	249	1145	40	1	1556	1	ADAM32	8	39080734	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		39080734	107283288	28	4199											
IDO1	3620	broad.mit.edu	37	8	39785510	39785510	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:39785510G>C	uc003xnm.3	+	9	1132	c.1018G>C	c.(1018-1020)Gtc>Ctc	p.V340L		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	340					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GAAAGCTCTGGTCTCCCTGAG	0.498													C	39785510	G	C	39785510	3	2	65	1	0	0	0	0	1	0	0	0	7501	1261	44	5	1056	5	IDO1	8	39785510	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	704776	39785510	106578512	29	4200											
NIPAL2	79815	broad.mit.edu	37	8	99215392	99215392	+	Missense_Mutation	SNP	G	G	A	rs145862248	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:99215392G>A	uc003yim.1	-	7	1080	c.824C>T	c.(823-825)aCg>aTg	p.T275M	NIPAL2_uc011lgw.1_Missense_Mutation_p.T71M|NIPAL2_uc003yil.1_Missense_Mutation_p.T275M			Q9H841	NPAL2_HUMAN	Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.	275						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						CACTGTTGTCGTATTGTAGAG	0.393													A	99215392	G	A	99215392	3	1	65	1	0	0	0	0	1	0	0	0	10425	1145	40	1	302	1	NIPAL2	8	99215392	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	59429882	99215392	47148630	30	4201											
KANK1	23189	broad.mit.edu	37	9	730069	730069	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:730069C>G	uc003zgl.1	+	7	3366	c.2717C>G	c.(2716-2718)aCc>aGc	p.T906S	KANK1_uc003zgm.3_Missense_Mutation_p.T906S|KANK1_uc003zgn.1_Missense_Mutation_p.T906S|KANK1_uc003zgs.1_Missense_Mutation_p.T748S|KANK1_uc010mgx.1_5'Flank|KANK1_uc010mgy.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	906					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGGGATATACCTGTAAGTGT	0.473													G	730069	C	G	730069	3	3	65	1	0	0	0	0	1	0	0	0	7976	507	18	5	2727	5	KANK1	9	730069	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		730069	140483362	31	4202											
RUSC2	9853	broad.mit.edu	37	9	35560384	35560384	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:35560384G>T	uc003zww.3	+	9	4002	c.3747G>T	c.(3745-3747)gaG>gaT	p.E1249D	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.E1249D	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1249	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agacagaagaggtggcagagg	0.662													T	35560384	G	T	35560384	3	4	65	1	0	0	0	0	1	0	0	0	13751	991	35	5	3781	5	RUSC2	9	35560384	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	34830315	35560384	105653047	32	4203											
TMEM2	23670	broad.mit.edu	37	9	74305126	74305126	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:74305126C>T	uc011lsa.1	-	21	4273	c.3733G>A	c.(3733-3735)Gtc>Atc	p.V1245I	TMEM2_uc011lrz.1_Missense_Mutation_p.V238I|TMEM2_uc010mos.2_Missense_Mutation_p.V1182I|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.V79I	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1245						integral to membrane		p.G1244G(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAGGAGGACGCCTGCACTT	0.453													T	74305126	C	T	74305126	3	4	65	1	0	0	0	0	1	0	0	0	16118	536	19	1	430	1	TMEM2	9	74305126	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	38744742	74305126	66908305	33	4204											
TMC1	117531	broad.mit.edu	37	9	75387401	75387401	+	Missense_Mutation	SNP	A	A	T	rs111839361		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:75387401A>T	uc004aiz.1	+	12	1354	c.814A>T	c.(814-816)Agg>Tgg	p.R272W	TMC1_uc010moz.1_Missense_Mutation_p.R230W|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R126W|TMC1_uc010mpa.1_Missense_Mutation_p.R126W	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	272					sensory perception of sound	integral to membrane		p.R272K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GATGAATTTCAGGTTGCCGCT	0.398													T	75387401	A	T	75387401	3	4	65	1	0	0	0	0	1	0	0	0	15981	179	7	5	848	5	TMC1	9	75387401	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08	1082275	75387401	65826030	34	4205											
AGPAT2	10555	broad.mit.edu	37	9	139568283	139568283	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:139568283C>A	uc004cii.1	-	5	860	c.758G>T	c.(757-759)aGg>aTg	p.R253M	AGPAT2_uc004cij.1_Missense_Mutation_p.R221M	NM_006412	NP_006403	O15120	PLCB_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.	253					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GAAGGTGGTCCTCATGGCCCG	0.682													A	139568283	C	A	139568283	3	1	65	1	0	0	0	0	1	0	0	0	387	681	24	5	82	5	AGPAT2	9	139568283	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	64180882	139568283	1645148	35	4206											
PTEN	5728	broad.mit.edu	37	10	89717712	89717712	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr10:89717712C>T	uc001kfb.3	+	6	1769	c.737C>T	c.(736-738)cCg>cTg	p.P246L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	246	C2 tensin-type.		P -> L (in CD and BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P246L(15)|p.Q245*(8)|p.R55fs*1(5)|p.P246fs*11(3)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.P246_L247insGP(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.Q245fs*8(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCCCTCAGCCGTTACCTGTG	0.418		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717712	C	T	89717712	3	4	65	1	0	0	0	0	1	0	0	0	12738	652	23	2	763	2	PTEN	10	89717712	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		89717712	45817035	36	4207											
PTEN	5728	broad.mit.edu	37	10	89720659	89720659	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr10:89720659G>A	uc001kfb.3	+	7	1842	c.810G>A	c.(808-810)atG>atA	p.M270I	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	270	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M270I(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACAAAATGTTTCACTTTT	0.264		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720659	G	A	89720659	3	1	65	1	0	0	0	0	1	0	0	0	12738	1377	48	3	840	3	PTEN	10	89720659	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	2947	89720659	45814088	37	4208											
MRGPRE	116534	broad.mit.edu	37	11	3249621	3249621	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:3249621G>A	uc021qcj.1	-	0	406	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	MRGPRE_uc001lxq.4_Missense_Mutation_p.R136C	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	136						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R136C(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCAGGTGGCGTGGGCGGCGG	0.692													A	3249621	G	A	3249621	3	1	65	1	0	0	0	0	1	0	0	0	9764	1145	40	1	533	1	MRGPRE	11	3249621	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		3249621	131756895	38	4209											
MRGPRX2	117194	broad.mit.edu	37	11	19077538	19077538	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:19077538G>A	uc001mph.3	-	1	500	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	MRGPRX2_uc021qer.1_Missense_Mutation_p.R138C	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	138					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CGGCGGCAGCGATACCAGATG	0.617													A	19077538	G	A	19077538	3	1	65	1	0	0	0	0	1	0	0	0	9767	1058	37	2	584	2	MRGPRX2	11	19077538	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	15827917	19077538	115928978	39	4210											
MAPK8IP1	9479	broad.mit.edu	37	11	45925671	45925671	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:45925671A>G	uc001nbr.3	+	6	1950	c.1625A>G	c.(1624-1626)tAt>tGt	p.Y542C		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	542	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	p.Y542C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TTTCCTGCCTATTACGCCATC	0.602													G	45925671	A	G	45925671	3	3	65	1	0	0	0	0	1	0	0	0	9284	449	16	4	1651	4	MAPK8IP1	11	45925671	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08	26848133	45925671	89080845	40	4211											
OR5R1	219479	broad.mit.edu	37	11	56185215	56185215	+	Missense_Mutation	SNP	C	C	T	rs138983419	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:56185215C>T	uc010rji.2	-	0	494	c.494G>A	c.(493-495)cGt>cAt	p.R165H	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTAAGTCAGACGGAAAGTGAT	0.438													T	56185215	C	T	56185215	3	4	65	1	0	0	0	0	1	0	0	0	11180	536	19	1	482	1	OR5R1	11	56185215	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	10259544	56185215	78821301	41	4212											
LRRC55	219527	broad.mit.edu	37	11	56950146	56950146	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:56950146G>A	uc001njl.2	+	0	926	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	230	LRRCT.					integral to membrane		p.R260H(2)|p.R260C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CGGATCCAGCGCTGTACAGCA	0.607													A	56950146	G	A	56950146	3	1	65	1	0	0	0	0	1	0	0	0	9011	1087	38	1	781	1	LRRC55	11	56950146	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	764931	56950146	78056370	42	4213											
RNF169	254225	broad.mit.edu	37	11	74546969	74546969	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:74546969C>T	uc001ovl.4	+	5	1334	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	441							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTTTCAGGAGCGGCAGATCAA	0.478													T	74546969	C	T	74546969	3	4	65	1	0	0	0	0	1	0	0	0	13460	759	27	1	1343	1	RNF169	11	74546969	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	17596823	74546969	60459547	43	4214											
C12orf4	57102	broad.mit.edu	37	12	4643363	4643363	+	Nonsense_Mutation	SNP	A	A	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:4643363A>C	uc001qms.3	-	2	372	c.284T>G	c.(283-285)tTa>tGa	p.L95*	C12orf4_uc001qmt.3_Nonsense_Mutation_p.L95*	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.	95										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CAGCTGATGTAAATCTACTTC	0.393													C	4643363	A	C	4643363	4	2	65	1	0	0	0	0	0	1	0	0	1685	372	13	5	1422	5	C12orf4	12	4643363	Nonsense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08		4643363	129208532	44	4215											
CLSTN3	9746	broad.mit.edu	37	12	7295764	7295764	+	Silent	SNP	C	C	T	rs143198009	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:7295764C>T	uc001qss.3	+	10	2278	c.1740C>T	c.(1738-1740)caC>caT	p.H580H	CLSTN3_uc001qsr.3_Silent_p.H568H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	568					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCCAGGTCCACGTGAACCCCT	0.612													T	7295764	C	T	7295764	2	4	65	1	0	0	0	0	0	0	0	1	3563	535	19	1		1	CLSTN3	12	7295764	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	2652401	7295764	126556131	45	4216											
PPP1CC	5501	broad.mit.edu	37	12	111168342	111168342	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:111168342T>A	uc001tru.3	-	2	681	c.410A>T	c.(409-411)tAt>tTt	p.Y137F	PPP1CC_uc021rdx.1_Missense_Mutation_p.Y137F	NM_002710	NP_002701	P36873	PP1G_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.	137					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						ACATTCATCATAAAATCCATA	0.308													A	111168342	T	A	111168342	3	1	65	1	0	0	0	0	1	0	0	0	12351	1406	49	5	581	5	PPP1CC	12	111168342	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	103872578	111168342	22683553	46	4217											
DNAH10	196385	broad.mit.edu	37	12	124416577	124416577	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:124416577G>A	uc001uft.4	+	74	12889	c.12864G>A	c.(12862-12864)agG>agA	p.R4288R	DNAH10_uc001ufu.4_Silent_p.R201R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4288					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTGGAGAAGGCTTGCTCCTG	0.493													A	124416577	G	A	124416577	2	1	65	1	0	0	0	0	0	0	0	1	4598	1194	42	3		3	DNAH10	12	124416577	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	13248235	124416577	9435318	47	4218											
MDGA2	161357	broad.mit.edu	37	14	47351248	47351248	+	Silent	SNP	A	A	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:47351248A>G	uc001wwj.4	-	11	2574	c.2416_splice	c.e11+1	p.A806_splice	MDGA2_uc001wwh.4_Splice_Site|MDGA2_uc001wwi.4_Splice_Site_p.A508_splice|MDGA2_uc010ani.3_Splice_Site_p.A297_splice	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	737	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCTACTTACCACTATATTTGA	0.313													G	47351248	A	G	47351248	2	3	65	1	0	0	0	0	0	0	0	1	9407	173	6	4		4	MDGA2	14	47351248	Silent	SNP	A	TCGA-06-0875-01A-01W-0424-08		47351248	59998292	48	4219											
CDKL1	8814	broad.mit.edu	37	14	50808934	50808934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:50808934G>A	uc010anu.2	-	16	2386	c.2386C>T	c.(2386-2388)Cat>Tat	p.H796Y	CDKL1_uc001wxz.3_Missense_Mutation_p.H125Y	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	124						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACGTCTCTATGTATGCACTAG	0.333													A	50808934	G	A	50808934	3	1	65	1	0	0	0	0	1	0	0	0	3153	1377	48	3	727	3	CDKL1	14	50808934	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	3457686	50808934	56540606	49	4220											
NIN	51199	broad.mit.edu	37	14	51196324	51196324	+	Missense_Mutation	SNP	G	G	A	rs144624455	by1000genomes	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:51196324G>A	uc001wyi.3	-	28	6186	c.5995C>T	c.(5995-5997)Cgc>Tgc	p.R1999C	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R1999C|NIN_uc001wyk.3_Missense_Mutation_p.R1286C|NIN_uc001wyo.3_Missense_Mutation_p.R1999C|NIN_uc001wyn.3_Non-coding_Transcript	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1999					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGCAGCTGGCGTTGAAGCTGC	0.567			T	PDGFRB	MPD								A	51196324	G	A	51196324	3	1	65	1	0	0	0	0	1	0	0	0	10417	1145	40	1	566	1	NIN	14	51196324	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	387390	51196324	56153216	50	4221											
AK7	122481	broad.mit.edu	37	14	96949427	96949427	+	Silent	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:96949427C>T	uc001yfn.2	+	15	1889	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	615					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GTTTAACAGACGAAGAAAAGG	0.507													T	96949427	C	T	96949427	2	4	65	1	0	0	0	0	0	0	0	1	444	535	19	1		1	AK7	14	96949427	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	45753103	96949427	10400113	51	4222											
NIPA1	123606	broad.mit.edu	37	15	23048832	23048832	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:23048832G>T	uc001yvc.3	-	4	1012	c.987C>A	c.(985-987)gaC>gaA	p.D329E	NIPA1_uc001yvd.3_Missense_Mutation_p.D159E|NIPA1_uc001yve.3_Missense_Mutation_p.D254E	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	329					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTGCAATCTAGTCTGTTTTCA	0.453													T	23048832	G	T	23048832	3	4	65	1	0	0	0	0	1	0	0	0	10422	1020	36	5	6	5	NIPA1	15	23048832	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		23048832	79482560	52	4223											
AKAP13	11214	broad.mit.edu	37	15	86270682	86270682	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:86270682C>G	uc002blv.1	+	28	7245	c.7075C>G	c.(7075-7077)Cga>Gga	p.R2359G	AKAP13_uc002blu.1_Missense_Mutation_p.R2363G|AKAP13_uc010bnf.1_Missense_Mutation_p.R980G|AKAP13_uc002blw.1_Missense_Mutation_p.R824G|AKAP13_uc002blx.1_Missense_Mutation_p.R604G	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2359	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACCAGAGCCCGAGAATTAAA	0.448													G	86270682	C	G	86270682	3	3	65	1	0	0	0	0	1	0	0	0	449	644	23	5	7255	5	AKAP13	15	86270682	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	63221850	86270682	16260710	53	4224											
ACAN	176	broad.mit.edu	37	15	89417650	89417650	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:89417650C>T	uc010upo.1	+	17	7905	c.7531C>T	c.(7531-7533)Cgc>Tgc	p.R2511C	ACAN_uc010upp.1_Missense_Mutation_p.R2412C|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2511					cell adhesion		hyaluronic acid binding|sugar binding			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)			CACCTACAAACGCAGACTACA	0.612													T	89417650	C	T	89417650	3	4	65	1	0	0	0	0	1	0	0	0	117	536	19	1	7597	1	ACAN	15	89417650	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	3146968	89417650	13113742	54	4225											
CLCN7	1186	broad.mit.edu	37	16	1507256	1507256	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:1507256T>C	uc002clv.2	-	9	932	c.822_splice	c.e9+1	p.K274_splice	CLCN7_uc002clw.2_Splice_Site_p.K250_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	274						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAACTCACCTTGAAATCTCG	0.592													C	1507256	T	C	1507256	3	2	65	1	0	0	0	0	1	0	0	0	3468	1623	56	4	1664	4	CLCN7	16	1507256	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08		1507256	88847497	55	4226											
COG4	25839	broad.mit.edu	37	16	70551628	70551628	+	Silent	SNP	C	C	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:70551628C>G	uc002ezc.3	-	2	281	c.270G>C	c.(268-270)ctG>ctC	p.L90L	COG4_uc002ezd.3_Silent_p.L90L|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	86	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTCCCTCAATCAGCTGCAGAT	0.453													G	70551628	C	G	70551628	2	3	65	1	0	0	0	0	0	0	0	1	3660	813	29	5		5	COG4	16	70551628	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	69044372	70551628	19803125	56	4227											
TAT	6898	broad.mit.edu	37	16	71603782	71603782	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:71603782C>T	uc002fap.2	-	9	1199	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	367					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCCAGAAGGGCGGACTGGCCG	0.512													T	71603782	C	T	71603782	3	4	65	1	0	0	0	0	1	0	0	0	15587	768	27	1	276	1	TAT	16	71603782	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	1052154	71603782	18750971	57	4228											
KARS	3735	broad.mit.edu	37	16	75665416	75665416	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:75665416C>T	uc002feq.3	-	8	1198	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	KARS_uc002fer.3_Missense_Mutation_p.D412N	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	384					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AAGTCAACATCGTAGGCTTGG	0.517													T	75665416	C	T	75665416	3	4	65	1	0	0	0	0	1	0	0	0	7980	884	31	2	667	2	KARS	16	75665416	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	4061634	75665416	14689337	58	4229											
USP10	9100	broad.mit.edu	37	16	84812553	84812553	+	Silent	SNP	C	C	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:84812553C>A	uc010voe.2	+	14	2525	c.2274C>A	c.(2272-2274)gtC>gtA	p.V758V	USP10_uc002fii.3_Silent_p.V754V|USP10_uc010vof.2_Silent_p.V316V|USP10_uc002fij.3_Silent_p.V280V	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	754					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I757N(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTACAGACGTCTTCCAGATCG	0.567													A	84812553	C	A	84812553	2	1	65	1	0	0	0	0	0	0	0	1	17038	900	32	5		5	USP10	16	84812553	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	9147137	84812553	5542200	59	4230											
WSCD1	23302	broad.mit.edu	37	17	5991317	5991317	+	Silent	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:5991317C>T	uc010cli.3	+	2	814	c.435C>T	c.(433-435)taC>taT	p.Y145Y	WSCD1_uc002gcn.3_Silent_p.Y145Y|WSCD1_uc002gco.3_Silent_p.Y145Y|WSCD1_uc010clj.3_Intron	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	145	WSC 1.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CAGGCACCTACATTGGATGCT	0.537													T	5991317	C	T	5991317	2	4	65	1	0	0	0	0	0	0	0	1	17403	489	17	3		3	WSCD1	17	5991317	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08		5991317	75203893	60	4231											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	65	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	1585777	7577094	73618116	61	4232											
SLC13A2	9058	broad.mit.edu	37	17	26816246	26816246	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:26816246G>A	uc010wan.2	+	1	184	c.117G>A	c.(115-117)gcG>gcA	p.A39A	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_5'UTR|SLC13A2_uc002hbh.3_Silent_p.A39A|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	39						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.A39V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTACTGCGCGTATGCCATCA	0.612													A	26816246	G	A	26816246	2	1	65	1	0	0	0	0	0	0	0	1	14392	1132	40	1		1	SLC13A2	17	26816246	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	19239152	26816246	54378964	62	4233											
SLC16A6	9120	broad.mit.edu	37	17	66267054	66267054	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:66267054T>G	uc002jha.2	-	5	1560	c.1247A>C	c.(1246-1248)gAg>gCg	p.E416A	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Missense_Mutation_p.E416A	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	416						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGACATCTTCTCAATGCCCAC	0.458													G	66267054	T	G	66267054	3	3	65	1	0	0	0	0	1	0	0	0	14412	1551	54	5	332	5	SLC16A6	17	66267054	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	39450808	66267054	14928156	63	4234											
GPS1	2873	broad.mit.edu	37	17	80014960	80014960	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:80014960T>C	uc002kdk.1	+	12	1961	c.1541T>C	c.(1540-1542)cTg>cCg	p.L514P	GPS1_uc002kdl.1_Missense_Mutation_p.L478P|GPS1_uc010dij.1_Missense_Mutation_p.L513P|GPS1_uc002kdm.1_Missense_Mutation_p.L458P|GPS1_uc002kdn.1_Missense_Mutation_p.L474P|GPS1_uc010wvh.1_Missense_Mutation_p.L470P	NM_212492	NP_997657	Q13098	CSN1_HUMAN	Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.	478					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAGGGGGAGCTGACTCCAGCC	0.677													C	80014960	T	C	80014960	3	2	65	1	0	0	0	0	1	0	0	0	6732	1580	55	4	1640	4	GPS1	17	80014960	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	13747906	80014960	1180250	64	4235											
CIDEA	1149	broad.mit.edu	37	18	12262928	12262928	+	Missense_Mutation	SNP	G	G	A	rs149949331	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr18:12262928G>A	uc002kqt.4	+	1	208	c.143G>A	c.(142-144)cGt>cAt	p.R48H	CIDEA_uc002kqu.4_Missense_Mutation_p.R82H|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	48	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGCAGCCGGCGTGGGGTGATG	0.622													A	12262928	G	A	12262928	3	1	65	1	0	0	0	0	1	0	0	0	3425	1145	40	1	293	1	CIDEA	18	12262928	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		12262928	65814320	65	4236											
MUC16	94025	broad.mit.edu	37	19	9046404	9046404	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:9046404C>T	uc002mkp.3	-	4	35431	c.35227G>A	c.(35227-35229)Gtg>Atg	p.V11743M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11745	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7376M(1)|p.V11743M(1)		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						TGTGAAGTCACCATCTCTGGT	0.502													T	9046404	C	T	9046404	3	4	65	1	0	0	0	0	1	0	0	0	9973	507	18	3	8616	3	MUC16	19	9046404	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		9046404	50082579	66	4237											
HPN	3249	broad.mit.edu	37	19	35556818	35556818	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:35556818C>T	uc002nxq.2	+	12	1342	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	HPN_uc002nxr.2_Missense_Mutation_p.T366M|HPN_uc010xsh.1_Missense_Mutation_p.T335M|HPN_uc002nxt.1_Missense_Mutation_p.T250M|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	366	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	ATCTCTCGGACGCCACGTTGG	0.632													T	35556818	C	T	35556818	3	4	65	1	0	0	0	0	1	0	0	0	7336	536	19	1	1139	1	HPN	19	35556818	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	26510414	35556818	23572165	67	4238											
NUCB1	4924	broad.mit.edu	37	19	49414468	49414468	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:49414468C>G	uc002plb.4	+	4	773	c.439C>G	c.(439-441)Cat>Gat	p.H147D	NUCB1_uc002pla.3_Missense_Mutation_p.H147D|Mir_324_uc021uxb.1_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	147						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TCAGAACCAGCATACATTCGA	0.552													G	49414468	C	G	49414468	3	3	65	1	0	0	0	0	1	0	0	0	10718	710	25	5	453	5	NUCB1	19	49414468	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	13857650	49414468	9714515	68	4239											
ZNF264	9422	broad.mit.edu	37	19	57722987	57722987	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:57722987G>A	uc002qob.3	+	3	936	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		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;0.0135)		TTGGACAGGAGCAAGTCTCTC	0.463													A	57722987	G	A	57722987	2	1	65	1	0	0	0	0	0	0	0	1	17801	962	34	3		3	ZNF264	19	57722987	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	8308519	57722987	1405996	69	4240											
CHGB	1114	broad.mit.edu	37	20	5904212	5904212	+	Silent	SNP	C	C	T			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr20:5904212C>T	uc002wmg.3	+	3	1728	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y	CHGB_uc010zqz.2_Silent_p.Y157Y	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	474						extracellular region	hormone activity	p.N473Y(1)|p.N473S(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATCTCAACTACGGTGAGGAAG	0.507													T	5904212	C	T	5904212	2	4	65	1	0	0	0	0	0	0	0	1	3339	547	19	1		1	CHGB	20	5904212	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08		5904212	57121308	70	4241											
TRPM2	7226	broad.mit.edu	37	21	45825917	45825917	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr21:45825917G>A	uc010gpt.1	+	17	2887	c.2787G>A	c.(2785-2787)cgG>cgA	p.R929R	TRPM2_uc002zet.1_Silent_p.R929R|TRPM2_uc002zeu.1_Silent_p.R929R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.R929R|TRPM2_uc002zex.1_Silent_p.R715R|TRPM2_uc002zey.1_Silent_p.R442R	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	929						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.R929W(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTGTGAAGCGGATGGTAAGGG	0.627													A	45825917	G	A	45825917	2	1	65	1	0	0	0	0	0	0	0	1	16583	1161	41	3		3	TRPM2	21	45825917	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08		45825917	2303978	71	4242											
ASB11	140456	broad.mit.edu	37	X	15307657	15307657	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:15307657C>A	uc004cwp.2	-	4	643	c.624G>T	c.(622-624)agG>agT	p.R208S	ASB11_uc004cwo.2_Missense_Mutation_p.R187S|ASB11_uc010net.2_Missense_Mutation_p.R191S|ASB11_uc010nes.2_Non-coding_Transcript	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 11 (ASB11), transcript variant 1, mRNA.	208					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CACAGTCTACCCTCTGGTAGG	0.408													A	15307657	C	A	15307657	3	1	65	1	0	0	0	0	1	0	0	0	1015	622	22	5	359	5	ASB11	23	15307657	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		15307657	139962903	72	4243											
GRPR	2925	broad.mit.edu	37	X	16170433	16170433	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:16170433G>A	uc004cxj.3	+	2	1473	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	274					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGGCCTGTTCGCCTTCTGCTG	0.537													A	16170433	G	A	16170433	3	1	65	1	0	0	0	0	1	0	0	0	6808	1087	38	1	830	1	GRPR	23	16170433	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	862776	16170433	139100127	73	4244											
FTHL17	53940	broad.mit.edu	37	X	31089888	31089888	+	Silent	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:31089888G>A	uc004dcl.1	-	0	283	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	61	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.D61E(3)|p.S60S(1)|p.S60L(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CCATTTTGTCGTCCGACAGGC	0.577													A	31089888	G	A	31089888	2	1	65	1	0	0	0	0	0	0	0	1	6083	1136	40	1		1	FTHL17	23	31089888	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	14919455	31089888	124180672	74	4245											
PAGE2B	389860	broad.mit.edu	37	X	55103027	55103027	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:55103027G>A	uc004due.3	+	2	162	c.110G>A	c.(109-111)cGt>cAt	p.R37H	PAGE2B_uc022bxk.1_Missense_Mutation_p.R37H	NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN	Homo sapiens P antigen family, member 2B (PAGE2B), mRNA.	37										lung(3)	3						GAGGAAAAACGTCAAGAAGAG	0.443													A	55103027	G	A	55103027	3	1	65	1	0	0	0	0	1	0	0	0	11391	1145	40	1	116	1	PAGE2B	23	55103027	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	24013139	55103027	100167533	75	4246											
RPS6KA6	27330	broad.mit.edu	37	X	83320106	83320106	+	Missense_Mutation	SNP	T	T	C	rs149201069	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:83320106T>C	uc004eej.2	-	20	2021	c.1985A>G	c.(1984-1986)cAt>cGt	p.H662R	RPS6KA6_uc011mqt.2_Missense_Mutation_p.H662R|RPS6KA6_uc011mqu.2_Missense_Mutation_p.H559R	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	662	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGAAGCATATGGGAAAGCAA	0.338													C	83320106	T	C	83320106	3	2	65	1	0	0	0	0	1	0	0	0	13655	1464	51	4	260	4	RPS6KA6	23	83320106	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	28217079	83320106	71950454	76	4247											
CSMD2	114784	broad.mit.edu	37	1	34070881	34070881	+	Splice_Site	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:34070881C>T	uc001bxm.1	-	42	6709	c.6532_splice	c.e42+1	p.V2178_splice	CSMD2_uc001bxn.1_Splice_Site_p.V2180_splice|CSMD2_uc001bxo.1_Splice_Site_p.V1051_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2180	Sushi 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCGACATACCTTCACACTT	0.587													T	34070881	C	T	34070881	5	4	66	1	0	0	0	0	0	0	1	0	3945	521	18	3	4032	3	CSMD2	1	34070881	Splice_Site	SNP	C	TCGA-06-0876-01A-01W-0424-08		34070881	215179740	1	4248											
CLSPN	63967	broad.mit.edu	37	1	36228771	36228775	+	Frame_Shift_Del	DEL	TTTAC	TTTAC	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:36228771_36228775delTTTAC	uc001bzi.3	-	3	810_814	c.730_734delGTAAA	c.(730-735)gtaaaafs	p.V244fs	CLSPN_uc009vux.3_Frame_Shift_Del_p.V244fs	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	244					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTGTGCTTTTTTACTTTGTTTTTT	0.322													-	36228775	TTTAC	-	36228771	7	5	66	1	0	1	0	1	0	0	0	0	3560	1841	64	0	3373	0	CLSPN	1	36228771	Frame_Shift_Del	DEL	TTTAC	TCGA-06-0876-01A-01W-0424-08	2157890	36228771	213021850	2	4249											
LRRC8B	23507	broad.mit.edu	37	1	90050043	90050043	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:90050043G>A	uc001dni.3	+	6	2341	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	LRRC8B_uc001dnh.3_Missense_Mutation_p.E612K|LRRC8B_uc001dnj.3_Missense_Mutation_p.E612K	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	612						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAATTTGCATGAGTTAGACCT	0.388													A	90050043	G	A	90050043	3	1	66	1	0	0	0	0	1	0	0	0	9022	1291	45	3	1836	3	LRRC8B	1	90050043	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	53821272	90050043	159200578	3	4250											
EPS8L3	79574	broad.mit.edu	37	1	110304367	110304367	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:110304367G>A	uc001dyr.2	-	1	230	c.5C>T	c.(4-6)tCa>tTa	p.S2L	EPS8L3_uc001dys.2_Missense_Mutation_p.S2L|EPS8L3_uc001dyq.2_Missense_Mutation_p.S2L|EPS8L3_uc009wfm.2_Intron|EPS8L3_uc009wfn.2_5'UTR|EPS8L3_uc009wfo.2_Missense_Mutation_p.S2L	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	2						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCTGGGCCTTGACATGTTGAC	0.612													A	110304367	G	A	110304367	3	1	66	1	0	0	0	0	1	0	0	0	5197	1294	45	3	1851	3	EPS8L3	1	110304367	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	20254324	110304367	138946254	4	4251											
VTCN1	79679	broad.mit.edu	37	1	117699295	117699295	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:117699295G>A	uc001ehb.3	-	2	451	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	VTCN1_uc021osn.1_Missense_Mutation_p.R21W|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.R21W|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	116	Ig-like V-type 1.					integral to membrane|plasma membrane		p.R116W(2)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TTTTTCAGCCGCAAAGAGGCA	0.458													A	117699295	G	A	117699295	3	1	66	1	0	0	0	0	1	0	0	0	17231	1086	38	1	514	1	VTCN1	1	117699295	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	7394928	117699295	131551326	5	4252											
DPT	1805	broad.mit.edu	37	1	168670256	168670256	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:168670256T>A	uc001gfp.3	-	3	569	c.539_splice	c.e3+1	p.R180_splice		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	180	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				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTTTCTCACCTTTCCACTGCA	0.433													A	168670256	T	A	168670256	3	1	66	1	0	0	0	0	1	0	0	0	4739	1623	56	5	75	5	DPT	1	168670256	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	50970961	168670256	80580365	6	4253											
HHAT	55733	broad.mit.edu	37	1	210637955	210637955	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:210637955C>T	uc010psr.2	+	6	1071	c.966C>T	c.(964-966)ctC>ctT	p.L322L	HHAT_uc009xcx.3_Silent_p.L321L|HHAT_uc010psq.2_Silent_p.L184L|HHAT_uc009xcy.3_Silent_p.L256L|HHAT_uc010pss.2_Silent_p.L276L|HHAT_uc010pst.2_Silent_p.L258L|HHAT_uc001hhz.4_Silent_p.L321L|HHAT_uc021pip.1_Silent_p.L321L|HHAT_uc010psu.2_Silent_p.L256L|HHAT_uc001hia.4_Silent_p.L11L	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	321					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CACCCGCCCTCCCCCGCTGCG	0.592													T	210637955	C	T	210637955	2	4	66	1	0	0	0	0	0	0	0	1	7089	842	30	3		3	HHAT	1	210637955	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	41967699	210637955	38612666	7	4254											
CENPF	1063	broad.mit.edu	37	1	214819979	214819979	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:214819979G>A	uc001hkm.3	+	12	7240	c.7066G>A	c.(7066-7068)Gct>Act	p.A2356T		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2452	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				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			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)		AGAGCATGCAGCTCTTGAGGC	0.438													A	214819979	G	A	214819979	3	1	66	1	0	0	0	0	1	0	0	0	3231	971	34	3	7112	3	CENPF	1	214819979	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	4182024	214819979	34430642	8	4255											
TTC13	79573	broad.mit.edu	37	1	231059600	231059600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:231059600delT	uc001huf.4	-	14	1843	c.1801delA	c.(1801-1803)attfs	p.I601fs	TTC13_uc001hug.4_Frame_Shift_Del_p.I548fs|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Frame_Shift_Del_p.I491fs	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	601							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATTAAATTAATGTGGTTGTTA	0.438													-	231059600	T	-	231059600	7	5	66	1	0	1	0	1	0	0	0	0	16677	1464	51	0	817	0	TTC13	1	231059600	Frame_Shift_Del	DEL	T	TCGA-06-0876-01A-01W-0424-08	16239621	231059600	18191021	9	4256											
C2orf65	130951	broad.mit.edu	37	2	74787316	74787316	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr2:74787316G>A	uc002smy.3	-	8	1501	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	C2orf65_uc010ysa.2_Missense_Mutation_p.R462W|C2orf65_uc010ffp.3_Missense_Mutation_p.R111W	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	462					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						GGGTGGAGCCGCCCCTGAGGC	0.607													A	74787316	G	A	74787316	3	1	66	1	0	0	0	0	1	0	0	0	2184	1086	38	1	220	1	C2orf65	2	74787316	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		74787316	168412057	10	4257											
AMMECR1L	83607	broad.mit.edu	37	2	128631554	128631554	+	Silent	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr2:128631554C>A	uc002tpl.3	-	2	506	c.255G>T	c.(253-255)gcG>gcT	p.A85A	AMMECR1L_uc002tpm.3_Silent_p.A85A	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	85										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GAGGGCTCAGCGCTCCCGATG	0.547													A	128631554	C	A	128631554	2	1	66	1	0	0	0	0	0	0	0	1	579	755	27	5		5	AMMECR1L	2	128631554	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	53844238	128631554	114567819	11	4258											
FRAS1	80144	broad.mit.edu	37	4	79385647	79385647	+	Silent	SNP	C	C	T	rs150936204	by1000genomes	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:79385647C>T	uc003hlb.2	+	48	7379	c.6939C>T	c.(6937-6939)ccC>ccT	p.P2313P		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2312					cell communication	integral to membrane|plasma membrane	metal ion binding			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						ATTCGCTGCCCGTCGTACAGA	0.537													T	79385647	C	T	79385647	2	4	66	1	0	0	0	0	0	0	0	1	6042	639	23	2		2	FRAS1	4	79385647	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08		79385647	111768629	12	4259											
POU4F2	5458	broad.mit.edu	37	4	147561389	147561389	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:147561389C>T	uc003ikv.3	+	1	907	c.659C>T	c.(658-660)cCg>cTg	p.P220L		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	220					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			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)					GCTCACGCGCCGCACATGGCC	0.726													T	147561389	C	T	147561389	3	4	66	1	0	0	0	0	1	0	0	0	12279	652	23	2	665	2	POU4F2	4	147561389	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	68175742	147561389	43592887	13	4260											
NR3C2	4306	broad.mit.edu	37	4	149357273	149357273	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:149357273C>T	uc003ilj.4	-	1	1103	c.740G>A	c.(739-741)aGg>aAg	p.R247K	NR3C2_uc003ilk.4_Missense_Mutation_p.R247K|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	247	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.S246C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GCTGTGCGACCTGGAGCCTCG	0.532													T	149357273	C	T	149357273	3	4	66	1	0	0	0	0	1	0	0	0	10631	681	24	3	2246	3	NR3C2	4	149357273	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	1795884	149357273	41797003	14	4261											
FHDC1	85462	broad.mit.edu	37	4	153881733	153881733	+	Missense_Mutation	SNP	C	C	T	rs149221149		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:153881733C>T	uc003inf.2	+	3	755	c.680C>T	c.(679-681)gCg>gTg	p.A227V		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	227	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTTAAAAGCGTTTAGTGGC	0.363													T	153881733	C	T	153881733	3	4	66	1	0	0	0	0	1	0	0	0	5876	768	27	1	694	1	FHDC1	4	153881733	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	4524460	153881733	37272543	15	4262											
PLEKHG4B	153478	broad.mit.edu	37	5	143328	143328	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:143328C>T	uc003jak.2	+	1	626	c.576C>T	c.(574-576)gaC>gaT	p.D192D		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	192					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			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)		AGGTGCTGGACGTCAGTCAGG	0.662													T	143328	C	T	143328	2	4	66	1	0	0	0	0	0	0	0	1	12072	535	19	1		1	PLEKHG4B	5	143328	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08		143328	180771932	16	4263											
FTMT	94033	broad.mit.edu	37	5	121187738	121187738	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:121187738C>T	uc003kss.3	+	0	89	c.80C>T	c.(79-81)gCg>gTg	p.A27V		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	27					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGCTGCTTCGCGCTCCCGCTG	0.741													T	121187738	C	T	121187738	3	4	66	1	0	0	0	0	1	0	0	0	6085	768	27	1	82	1	FTMT	5	121187738	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	121044410	121187738	59727522	17	4264											
PCDHAC2	56146	broad.mit.edu	37	5	140175903	140175903	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:140175903G>A	uc003lhd.2	+	0	1460	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A452T|PCDHAC2_uc011czy.2_Missense_Mutation_p.A452T	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	466	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCGTT	0.647													A	140175903	G	A	140175903	3	1	66	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140175903	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	18988165	140175903	40739357	18	4265											
ADRA1B	147	broad.mit.edu	37	5	159344026	159344026	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:159344026C>T	uc003lxt.1	+	0	287	c.114C>T	c.(112-114)ccC>ccT	p.P38P		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	38					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CCACACTGCCCCAGCTGGACA	0.587													T	159344026	C	T	159344026	2	4	66	1	0	0	0	0	0	0	0	1	335	610	22	3		3	ADRA1B	5	159344026	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	19168123	159344026	21571234	19	4266											
RGS14	10636	broad.mit.edu	37	5	176795734	176795734	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:176795734T>C	uc003mgh.3	+	8	1048	c.866T>C	c.(865-867)cTt>cCt	p.L289P	RGS14_uc003mgf.3_Missense_Mutation_p.L289P|RGS14_uc003mgg.1_Missense_Mutation_p.L136P|RGS14_uc003mgi.3_Missense_Mutation_p.L59P	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	289					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CGGAAGAGCCTTGGGAGCACG	0.582											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	176795734	T	C	176795734	3	2	66	1	0	0	0	0	1	0	0	0	13297	1609	56	4	900	4	RGS14	5	176795734	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	17451708	176795734	4119526	20	4267											
ZKSCAN4	387032	broad.mit.edu	37	6	28213024	28213024	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr6:28213024A>G	uc003nks.1	-	4	1752	c.1508T>C	c.(1507-1509)aTt>aCt	p.I503T	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.I348T	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	503					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I503I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGATGTTCAATAAGACTTCT	0.428													G	28213024	A	G	28213024	3	3	66	1	0	0	0	0	1	0	0	0	17686	101	4	4	133	4	ZKSCAN4	6	28213024	Missense_Mutation	SNP	A	TCGA-06-0876-01A-01W-0424-08		28213024	142902043	21	4268											
SYNE1	23345	broad.mit.edu	37	6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	rs143049227		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr6:152461140C>T	uc021zhb.1	-	137	25626	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_uc003qos.4_Missense_Mutation_p.R2992H|SYNE1_uc003qot.4_Missense_Mutation_p.R8420H|SYNE1_uc003qou.4_Missense_Mutation_p.R8468H|SYNE1_uc011eez.2_Missense_Mutation_p.R670H|SYNE1_uc003qoq.4_Missense_Mutation_p.R670H|SYNE1_uc003qor.4_Missense_Mutation_p.R1391H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8468			R -> H (in a colorectal cancer sample; somatic mutation).		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.R8468H(8)		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)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)			T	152461140	C	T	152461140	3	4	66	1	0	0	0	0	1	0	0	0	15442	536	19	1	1018	1	SYNE1	6	152461140	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	124248116	152461140	18653927	22	4269											
AHR	196	broad.mit.edu	37	7	17367444	17367444	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:17367444C>A	uc011jxz.1	+	3	1035	c.422C>A	c.(421-423)aCt>aAt	p.T141N		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	141	PAS 1.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GCTTCTTCTACTATACAAGAT	0.279													A	17367444	C	A	17367444	3	1	66	1	0	0	0	0	1	0	0	0	416	565	20	5	436	5	AHR	7	17367444	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		17367444	141771219	23	4270											
RAPGEF5	9771	broad.mit.edu	37	7	22165268	22165268	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:22165268G>A	uc003svg.3	-	24	2344	c.2031C>T	c.(2029-2031)atC>atT	p.I677I		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	527					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAGTGTCTGCGATCATATGCT	0.463													A	22165268	G	A	22165268	2	1	66	1	0	0	0	0	0	0	0	1	13047	1048	37	2		2	RAPGEF5	7	22165268	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	4797824	22165268	136973395	24	4271											
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211080	G	A	55211080	3	1	66	1	0	0	0	0	1	0	0	0	4967	942	33	3	333	3	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	33045812	55211080	103927583	25	4272											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	rs149840192		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55221822C>A	uc003tqk.3	+	6	1112	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221822	C	A	55221822	3	1	66	1	0	0	0	0	1	0	0	0	4967	739	26	5	892	5	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	10742	55221822	103916841	26	4273											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	66	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	11221	55233043	103905620	27	4274											
ZKSCAN1	7586	broad.mit.edu	37	7	99621816	99621816	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:99621816G>A	uc003usk.1	+	2	685	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	ZKSCAN1_uc003usj.3_Missense_Mutation_p.G155R|ZKSCAN1_uc003usl.1_Missense_Mutation_p.G120R|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	156					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTCGCAAGGGGGATGGTGCC	0.507													A	99621816	G	A	99621816	3	1	66	1	0	0	0	0	1	0	0	0	17683	1232	43	3	472	3	ZKSCAN1	7	99621816	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	44388773	99621816	59516847	28	4275											
DOCK4	9732	broad.mit.edu	37	7	111395650	111395650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:111395650C>T	uc003vfy.3	-	42	4714	c.4445G>A	c.(4444-4446)tGg>tAg	p.W1482*	DOCK4_uc011kml.2_Nonsense_Mutation_p.W318*|DOCK4_uc011kmm.2_Nonsense_Mutation_p.W344*|DOCK4_uc003vfw.3_Nonsense_Mutation_p.W887*|DOCK4_uc003vfx.3_Nonsense_Mutation_p.W1437*	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1437	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTCTCCACCCAGAGACTCTA	0.453													T	111395650	C	T	111395650	4	4	66	1	0	0	0	0	0	1	0	0	4689	595	21	3	1638	3	DOCK4	7	111395650	Nonsense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	11773834	111395650	47743013	29	4276											
WNT2	7472	broad.mit.edu	37	7	116960624	116960624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:116960624G>A	uc003viz.3	-	1	607	c.307C>T	c.(307-309)Cga>Tga	p.R103*	WNT2_uc003vja.3_Missense_Mutation_p.P28L	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	103					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACTTACTTCGGAGTAGGACC	0.547													A	116960624	G	A	116960624	4	1	66	1	0	0	0	0	0	1	0	0	17383	1124	39	2	791	2	WNT2	7	116960624	Nonsense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	5564974	116960624	42178039	30	4277											
TMEM209	84928	broad.mit.edu	37	7	129813714	129813714	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:129813714G>A	uc003vpn.2	-	11	1533	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	TMEM209_uc010lmc.1_Silent_p.D428D	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	470						integral to membrane		p.G470*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AAGTTTTTCCGTCGGGATACT	0.363													A	129813714	G	A	129813714	2	1	66	1	0	0	0	0	0	0	0	1	16131	1136	40	1		1	TMEM209	7	129813714	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	12853090	129813714	29324949	31	4278											
RAB19	401409	broad.mit.edu	37	7	140107592	140107592	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:140107592C>T	uc010lni.2	+	1	344	c.146C>T	c.(145-147)aCg>aTg	p.T49M	RAB19_uc011krc.1_Missense_Mutation_p.T49M	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.	49					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CAGCAGAACACGATTGGAGTG	0.468													T	140107592	C	T	140107592	3	4	66	1	0	0	0	0	1	0	0	0	12904	536	19	1	148	1	RAB19	7	140107592	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	10293878	140107592	19031071	32	4279											
DLGAP2	9228	broad.mit.edu	37	8	1496906	1496906	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:1496906G>A	uc003wpl.3	+	1	144	c.47G>A	c.(46-48)gGg>gAg	p.G16E	DLGAP2_uc003wpm.3_Missense_Mutation_p.G16E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	95					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGTGTTCCGGGCACACGTGT	0.721													A	1496906	G	A	1496906	3	1	66	1	0	0	0	0	1	0	0	0	4560	1232	43	3	49	3	DLGAP2	8	1496906	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		1496906	144867116	33	4280											
ADAMDEC1	27299	broad.mit.edu	37	8	24254921	24254921	+	Silent	SNP	C	C	T	rs141288918		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:24254921C>T	uc003xdz.2	+	5	799	c.579C>T	c.(577-579)gaC>gaT	p.D193D	ADAMDEC1_uc010lub.2_Silent_p.D114D|ADAMDEC1_uc011lab.1_Silent_p.D114D	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	193					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGAGCACTGACGGGAAACAAG	0.443													T	24254921	C	T	24254921	2	4	66	1	0	0	0	0	0	0	0	1	254	535	19	1		1	ADAMDEC1	8	24254921	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	22758015	24254921	122109101	34	4281											
SDCBP	6386	broad.mit.edu	37	8	59492353	59492353	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:59492353G>A	uc003xtn.3	+	7	900	c.750_splice	c.e7+1	p.K250_splice	SDCBP_uc003xto.3_Splice_Site_p.K249_splice|SDCBP_uc003xtr.3_Splice_Site_p.K249_splice|SDCBP_uc003xtq.3_Splice_Site_p.K250_splice|SDCBP_uc003xtp.3_Splice_Site_p.K244_splice|SDCBP_uc003xts.3_Splice_Site_p.K256_splice|SDCBP_uc011led.2_Splice_Site_p.K191_splice	NM_005625	NP_005616	O00560	SDCB1_HUMAN	Homo sapiens syndecan binding protein (syntenin) (SDCBP), transcript variant 1, mRNA.	250	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTGGATTGAAGGTAAGGAACA	0.398													A	59492353	G	A	59492353	2	1	66	1	0	0	0	0	0	0	0	1	13955	1014	35	3		3	SDCBP	8	59492353	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	35237432	59492353	86871669	35	4282											
DOCK8	81704	broad.mit.edu	37	9	396909	396909	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:396909C>G	uc003zgf.2	+	24	3207	c.3095C>G	c.(3094-3096)gCa>gGa	p.A1032G	DOCK8_uc022bcu.1_Missense_Mutation_p.A964G|DOCK8_uc010mgv.3_Missense_Mutation_p.A932G|DOCK8_uc010mgu.3_Missense_Mutation_p.A334G|DOCK8_uc010mgw.2_Missense_Mutation_p.A334G|DOCK8_uc003zgk.2_Missense_Mutation_p.A490G	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1032					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCGGAAATTGCAGCCCTTTTA	0.348													G	396909	C	G	396909	3	3	66	1	0	0	0	0	1	0	0	0	4693	710	25	5	3193	5	DOCK8	9	396909	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		396909	140816522	36	4283											
DOCK8	81704	broad.mit.edu	37	9	399200	399200	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:399200C>G	uc003zgf.2	+	25	3287	c.3175C>G	c.(3175-3177)Ctt>Gtt	p.L1059V	DOCK8_uc022bcu.1_Missense_Mutation_p.L991V|DOCK8_uc010mgv.3_Missense_Mutation_p.L959V|DOCK8_uc010mgu.3_Missense_Mutation_p.L361V|DOCK8_uc010mgw.2_Missense_Mutation_p.L361V|DOCK8_uc003zgk.2_Missense_Mutation_p.L517V	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1059					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTTGTATGACCTTCTCTCCCT	0.493													G	399200	C	G	399200	3	3	66	1	0	0	0	0	1	0	0	0	4693	681	24	5	3277	5	DOCK8	9	399200	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	2291	399200	140814231	37	4284											
DOCK8	81704	broad.mit.edu	37	9	439373	439373	+	Silent	SNP	G	G	A	rs144172375		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:439373G>A	uc003zgf.2	+	39	5320	c.5208G>A	c.(5206-5208)gcG>gcA	p.A1736A	DOCK8_uc022bcu.1_Silent_p.A1668A|DOCK8_uc010mgv.3_Silent_p.A1636A|DOCK8_uc010mgu.3_Silent_p.A1038A|DOCK8_uc003zgk.2_Silent_p.A1194A	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1736	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCAGGCCGCGGAGCTCTTCA	0.647													A	439373	G	A	439373	2	1	66	1	0	0	0	0	0	0	0	1	4693	1103	39	2		2	DOCK8	9	439373	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	40173	439373	140774058	38	4285											
OR2K2	26248	broad.mit.edu	37	9	114090506	114090506	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:114090506C>T	uc011lwp.2	-	0	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TAACAAATATCCATGAAAGAG	0.418													T	114090506	C	T	114090506	3	4	66	1	0	0	0	0	1	0	0	0	11005	855	30	3	745	3	OR2K2	9	114090506	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	113651133	114090506	27122925	39	4286											
COL27A1	85301	broad.mit.edu	37	9	117020836	117020836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:117020836C>T	uc011lxl.2	+	27	3157	c.3157C>T	c.(3157-3159)Cga>Tga	p.R1053*	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1053	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.R1053*(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCCAGGATCTCGAGGCCCACC	0.622													T	117020836	C	T	117020836	4	4	66	1	0	0	0	0	0	1	0	0	3685	876	31	2	3267	2	COL27A1	9	117020836	Nonsense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	2930330	117020836	24192595	40	4287											
C9orf171	389799	broad.mit.edu	37	9	135374759	135374759	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:135374759C>T	uc004cbn.3	+	4	452	c.404_splice	c.e4-1	p.A135_splice	C9orf171_uc004cbo.3_Splice_Site_p.A99_splice	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	135										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCTCAGCCATCGGACGC	0.647													T	135374759	C	T	135374759	3	4	66	1	0	0	0	0	1	0	0	0	2470	753	26	3	418	3	C9orf171	9	135374759	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	18353923	135374759	5838672	41	4288											
ANKRD30A	91074	broad.mit.edu	37	10	37508365	37508365	+	Missense_Mutation	SNP	C	C	T	rs116869285	by1000genomes	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:37508365C>T	uc021ppc.1	+	33	3656	c.3557C>T	c.(3556-3558)aCg>aTg	p.T1186M	ANKRD30A_uc001iza.1_Missense_Mutation_p.T1186M	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1242						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						GTGAGTAGTACGATATATAAC	0.363													T	37508365	C	T	37508365	3	4	66	1	0	0	0	0	1	0	0	0	658	536	19	1	3691	1	ANKRD30A	10	37508365	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		37508365	98026382	42	4289											
CHAT	1103	broad.mit.edu	37	10	50873009	50873009	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:50873009T>C	uc001jhz.2	+	14	2317	c.2164T>C	c.(2164-2166)Tgc>Cgc	p.C722R	CHAT_uc001jhv.1_Missense_Mutation_p.C604R|CHAT_uc001jhx.1_Missense_Mutation_p.C604R|CHAT_uc001jhy.1_Missense_Mutation_p.C604R|CHAT_uc001jia.2_Missense_Mutation_p.C640R|CHAT_uc010qgs.1_Intron	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	722					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GAGAGACCTCTGCAGTCTGCT	0.502													C	50873009	T	C	50873009	3	2	66	1	0	0	0	0	1	0	0	0	3313	1580	55	4	2266	4	CHAT	10	50873009	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	13364644	50873009	84661738	43	4290											
DLG5	9231	broad.mit.edu	37	10	79577582	79577582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:79577582delA	uc001jzk.3	-	17	3807	c.3737delT	c.(3736-3738)atgfs	p.M1246fs	DLG5_uc001jzi.3_Frame_Shift_Del_p.M1fs|DLG5_uc001jzj.3_Frame_Shift_Del_p.M661fs|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Frame_Shift_Del_p.M850fs	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1246					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGTGGCTCTCATCTCGGAGTA	0.597													-	79577582	A	-	79577582	7	5	66	1	0	1	0	1	0	0	0	0	4558	217	8	0	2082	0	DLG5	10	79577582	Frame_Shift_Del	DEL	A	TCGA-06-0876-01A-01W-0424-08	28704573	79577582	55957165	44	4291											
PTEN	5728	broad.mit.edu	37	10	89653838	89653838	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:89653838T>C	uc001kfb.3	+	1	1168	c.136T>C	c.(136-138)Tac>Cac	p.Y46H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	46	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V45V(2)|p.V45fs*10(1)|p.Y46C(1)|p.Y46*(1)|p.G44fs*8(1)|p.Y46H(1)|p.G44fs*11(1)|p.V45fs*9(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAAGGCGTATACAGGAACAA	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89653838	T	C	89653838	3	2	66	1	0	0	0	0	1	0	0	0	12738	1406	49	4	142	4	PTEN	10	89653838	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	10076256	89653838	45880909	45	4292											
OR4X2	119764	broad.mit.edu	37	11	48266856	48266856	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr11:48266856C>T	uc001ngs.1	+	0	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTACTCCTCCGCTACAGCCC	0.502													T	48266856	C	T	48266856	2	4	66	1	0	0	0	0	0	0	0	1	11085	639	23	2		2	OR4X2	11	48266856	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08		48266856	86739660	46	4293											
CTSW	1521	broad.mit.edu	37	11	65647754	65647754	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr11:65647754G>A	uc001ogc.1	+	1	211	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_001335	NP_001326	P56202	CATW_HUMAN	Homo sapiens cathepsin W (CTSW), mRNA.	57					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCTGAGCccagaaggtatcac	0.517													A	65647754	G	A	65647754	3	1	66	1	0	0	0	0	1	0	0	0	4042	943	33	3	175	3	CTSW	11	65647754	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	17380898	65647754	69358762	47	4294											
ATN1	1822	broad.mit.edu	37	12	7046515	7046516	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:7046515_7046516insC	uc001qrw.1	+	4	2322_2323	c.2085_2086insC	c.(2083-2088)gggcccfs	p.G695fs	ATN1_uc001qrx.1_Frame_Shift_Ins_p.G695fs	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	695					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGGACCTGGGCCCCTGCCACC	0.723													C	7046516	-	C	7046515	7	5	66	1	0	1	1	0	0	0	0	0	1111	1190	42	0	2099	0	ATN1	12	7046515	Frame_Shift_Ins	INS	-	TCGA-06-0876-01A-01W-0424-08		7046515	126805380	48	4295											
OR6C70	390327	broad.mit.edu	37	12	55863703	55863703	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:55863703C>A	uc010spn.2	-	0	220	c.220G>T	c.(220-222)Gct>Tct	p.A74S		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGAATGCAAGCAGTTGTGAAT	0.398													A	55863703	C	A	55863703	3	1	66	1	0	0	0	0	1	0	0	0	11197	710	25	5	720	5	OR6C70	12	55863703	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	48817188	55863703	77988192	49	4296											
IFNG	3458	broad.mit.edu	37	12	68551725	68551725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:68551725G>A	uc001stw.1	-	2	460	c.334C>T	c.(334-336)Cga>Tga	p.R112*		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	112					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AAGTCATCTCGTTTCTTTTTG	0.358													A	68551725	G	A	68551725	4	1	66	1	0	0	0	0	0	1	0	0	7548	1153	40	1	174	1	IFNG	12	68551725	Nonsense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	12688022	68551725	65300170	50	4297											
PXN	5829	broad.mit.edu	37	12	120651689	120651689	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:120651689A>C	uc001txv.3	-	9	1649	c.1507T>G	c.(1507-1509)Tca>Gca	p.S503A	PXN_uc001txu.3_Missense_Mutation_p.S301A|PXN_uc001txx.3_Missense_Mutation_p.S322A|PXN_uc001txt.3_Missense_Mutation_p.S489A|PXN_uc001txy.3_Missense_Mutation_p.S455A|PXN_uc001txz.3_Non-coding_Transcript	NM_001243756	NP_001230685	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 3, mRNA.	489	LIM zinc-binding 3.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	p.S502Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGAGGGCTGAGATATAGTTC	0.617													C	120651689	A	C	120651689	3	2	66	1	0	0	0	0	1	0	0	0	12852	304	11	5	318	5	PXN	12	120651689	Missense_Mutation	SNP	A	TCGA-06-0876-01A-01W-0424-08	52099964	120651689	13200206	51	4298											
N4BP2L2	10443	broad.mit.edu	37	13	33017656	33017656	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr13:33017656G>A	uc010abe.1	-	6	1040	c.1018C>T	c.(1018-1020)Caa>Taa	p.Q340*	N4BP2L2_uc001uug.2_Nonsense_Mutation_p.Q223*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.Q253*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.Q171*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.Q325*|N4BP2L2_uc021rhy.1_5'Flank	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATTCCATGTTGATGGCACAGA	0.353													A	33017656	G	A	33017656	4	1	66	1	0	0	0	0	0	1	0	0	10112	1299	45	3	1252	3	N4BP2L2	13	33017656	Nonsense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		33017656	82152222	52	4299											
COL4A1	1282	broad.mit.edu	37	13	110817226	110817226	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr13:110817226C>T	uc001vqw.4	-	45	4255	c.4133G>A	c.(4132-4134)gGc>gAc	p.G1378D		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1378	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCTTTCGGGCCTGGCAGTCC	0.642													T	110817226	C	T	110817226	3	4	66	1	0	0	0	0	1	0	0	0	3689	739	26	3	904	3	COL4A1	13	110817226	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	77799570	110817226	4352652	53	4300											
ANKDD1A	348094	broad.mit.edu	37	15	65209682	65209682	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr15:65209682C>T	uc002aoa.3	+	2	265	c.236C>T	c.(235-237)gCg>gTg	p.A79V	ANKDD1A_uc002anx.1_Missense_Mutation_p.A79V|ANKDD1A_uc002any.3_5'UTR|ANKDD1A_uc002anz.3_Intron|ANKDD1A_uc002aob.3_Missense_Mutation_p.A49V	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	79					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GAGGAGGATGCGGTAGGGGCC	0.642													T	65209682	C	T	65209682	3	4	66	1	0	0	0	0	1	0	0	0	624	768	27	1	246	1	ANKDD1A	15	65209682	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		65209682	37321710	54	4301											
MAN2A2	4122	broad.mit.edu	37	15	91454400	91454400	+	Splice_Site	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr15:91454400G>A	uc010bnz.2	+	13	1991	c.1876_splice	c.e13-1	p.D626_splice	MAN2A2_uc010boa.3_Splice_Site_p.D668_splice|MAN2A2_uc002bqc.3_Splice_Site_p.D626_splice|MAN2A2_uc010uql.2_Splice_Site_p.D288_splice|MAN2A2_uc010uqm.2_Splice_Site_p.D205_splice|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	626					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGAATTCCAGGATGACACTC	0.612													A	91454400	G	A	91454400	5	1	66	1	0	0	0	0	0	0	1	0	9215	1014	35	3	1921	3	MAN2A2	15	91454400	Splice_Site	SNP	G	TCGA-06-0876-01A-01W-0424-08	26244718	91454400	11076992	55	4302											
CLDN9	9080	broad.mit.edu	37	16	3063836	3063836	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:3063836G>A	uc010uwo.1	+	0	1380	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	158					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GCCCTCAAGCGGGAGCTGGGG	0.701													A	3063836	G	A	3063836	3	1	66	1	0	0	0	0	1	0	0	0	3492	1116	39	2	475	2	CLDN9	16	3063836	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		3063836	87290917	56	4303											
FAM86A	196483	broad.mit.edu	37	16	5135684	5135684	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:5135684C>T	uc002cyo.2	-	7	991	c.942G>A	c.(940-942)ctG>ctA	p.L314L	ALG1_uc002cyj.3_3'UTR|ALG1_uc002cym.3_3'UTR|ALG1_uc010bue.3_3'UTR|FAM86A_uc002cyp.2_Silent_p.L280L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	314										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGTAGGGAAACAGTTTCTGCT	0.527													T	5135684	C	T	5135684	2	4	66	1	0	0	0	0	0	0	0	1	5643	465	17	3		3	FAM86A	16	5135684	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	2071848	5135684	85219069	57	4304											
FA2H	79152	broad.mit.edu	37	16	74748141	74748141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:74748141delC	uc002fde.2	-	6	1142	c.1066delG	c.(1066-1068)gatfs	p.D356fs	FA2H_uc002fdd.2_Frame_Shift_Del_p.D129fs|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	356				D -> G (in Ref. 1; BAB71632).	cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AAACAGTAATCCCACAATTTA	0.582													-	74748141	C	-	74748141	7	5	66	1	0	1	0	1	0	0	0	0	5352	855	30	0	56	0	FA2H	16	74748141	Frame_Shift_Del	DEL	C	TCGA-06-0876-01A-01W-0424-08	69612457	74748141	15606612	58	4305											
AIPL1	23746	broad.mit.edu	37	17	6338338	6338338	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:6338338G>A	uc002gcp.3	-	0	182	c.87C>T	c.(85-87)acC>acT	p.T29T	AIPL1_uc021toq.1_5'UTR|AIPL1_uc002gcq.3_Silent_p.T29T|AIPL1_uc002gcr.3_Silent_p.T29T|AIPL1_uc010clk.3_Silent_p.T29T|AIPL1_uc010cll.3_Silent_p.T29T|AIPL1_uc021tor.1_Silent_p.T29T|AIPL1_uc002gcs.3_Silent_p.T29T	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	29					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CTCGGGATCCGGTGATGAAGT	0.597													A	6338338	G	A	6338338	2	1	66	1	0	0	0	0	0	0	0	1	436	1103	39	2		2	AIPL1	17	6338338	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08		6338338	74856872	59	4306											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	66	1	0	0	0	0	1	0	0	0	16378	1115	39	2	548	2	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	1239201	7577539	73617671	60	4307											
C18orf26	284254	broad.mit.edu	37	18	52265157	52265157	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr18:52265157C>A	uc002lfq.1	+	2	460	c.414C>A	c.(412-414)aaC>aaA	p.N138K		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	138						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TGGTGAATAACAAAGGATCGG	0.453													A	52265157	C	A	52265157	3	1	66	1	0	0	0	0	1	0	0	0	1900	477	17	5	424	5	C18orf26	18	52265157	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		52265157	25812091	61	4308											
SERPINB12	89777	broad.mit.edu	37	18	61223463	61223463	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr18:61223463G>A	uc010xeo.2	+	0	71	c.71G>A	c.(70-72)cGt>cAt	p.R24H	SERPINB12_uc010xen.2_Missense_Mutation_p.R24H	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	24					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAAGATGATCGTCATAAAAAC	0.393													A	61223463	G	A	61223463	3	1	66	1	0	0	0	0	1	0	0	0	14099	1145	40	1	73	1	SERPINB12	18	61223463	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	8958306	61223463	16853785	62	4309											
ADAMTS10	81794	broad.mit.edu	37	19	8661023	8661023	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:8661023A>G	uc002mkj.1	-	10	1545	c.1271T>C	c.(1270-1272)aTt>aCt	p.I424T	ADAMTS10_uc002mkk.1_Missense_Mutation_p.I56T	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	424	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTCATGGTAATGTGGGCAGC	0.592													G	8661023	A	G	8661023	3	3	66	1	0	0	0	0	1	0	0	0	256	101	4	4	2104	4	ADAMTS10	19	8661023	Missense_Mutation	SNP	A	TCGA-06-0876-01A-01W-0424-08		8661023	50467960	63	4310	5	2									
ADAMTS10	81794	broad.mit.edu	37	19	8661031	8661031	+	Silent	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:8661031A>G	uc002mkj.1	-	10	1537	c.1263T>C	c.(1261-1263)gcT>gcC	p.A421A	ADAMTS10_uc002mkk.1_Silent_p.A53A	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	421	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TAATGTGGGCAGCCATGAGCT	0.592													G	8661031	A	G	8661031	2	3	66	1	0	0	0	0	0	0	0	1	256	175	7	4		4	ADAMTS10	19	8661031	Silent	SNP	A	TCGA-06-0876-01A-01W-0424-08	8	8661031	50467952	64	4311	5	2									
KLF1	10661	broad.mit.edu	37	19	12996209	12996209	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:12996209G>A	uc002mvo.3	-	1	898	c.835C>T	c.(835-837)Cac>Tac	p.H279Y		NM_006563	NP_006554	Q13351	KLF1_HUMAN	Homo sapiens Kruppel-like factor 1 (erythroid) (KLF1), mRNA.	279					erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCACGTGTGCGCTGCCTGC	0.692													A	12996209	G	A	12996209	3	1	66	1	0	0	0	0	1	0	0	0	8337	1319	46	3	261	3	KLF1	19	12996209	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	4335178	12996209	46132774	65	4312											
ZNF208	7757	broad.mit.edu	37	19	22155610	22155610	+	Silent	SNP	A	A	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:22155610A>G	uc021urr.1	-	3	2375	c.2226T>C	c.(2224-2226)atT>atC	p.I742I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				CTCCAGTATGAATTACCTTAT	0.363													G	22155610	A	G	22155610	2	3	66	1	0	0	0	0	0	0	0	1	17763	242	9	4		4	ZNF208	19	22155610	Silent	SNP	A	TCGA-06-0876-01A-01W-0424-08	9159401	22155610	36973373	66	4313											
RAB4B	53916	broad.mit.edu	37	19	41289974	41289974	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:41289974G>A	uc002opd.2	+	4	581	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Intron|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.E168K	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	142					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTTTGCCCAGGAGAATGGTGA	0.627													A	41289974	G	A	41289974	3	1	66	1	0	0	0	0	1	0	0	0	12947	1175	41	3	442	3	RAB4B	19	41289974	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	19134364	41289974	17839009	67	4314											
SIGLEC9	27180	broad.mit.edu	37	19	51629378	51629378	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:51629378C>T	uc010yct.2	+	2	836	c.741C>T	c.(739-741)gaC>gaT	p.D247D	SIGLEC9_uc002pvu.3_Silent_p.D247D	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	247	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			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)		TCCAAGGAGACGGCACAGGTA	0.597													T	51629378	C	T	51629378	2	4	66	1	0	0	0	0	0	0	0	1	14315	535	19	1		1	SIGLEC9	19	51629378	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	10339404	51629378	7499605	68	4315											
CD33	945	broad.mit.edu	37	19	51728757	51728757	+	Silent	SNP	C	C	T	rs141721735		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:51728757C>T	uc002pwa.2	+	1	361	c.321C>T	c.(319-321)gaC>gaT	p.D107D	CD33_uc010eos.1_Silent_p.D107D|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	107	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			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)	GCATCGTAGACGCCAGGAGGA	0.507													T	51728757	C	T	51728757	2	4	66	1	0	0	0	0	0	0	0	1	3005	535	19	1		1	CD33	19	51728757	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	99379	51728757	7400226	69	4316											
ZNF841	284371	broad.mit.edu	37	19	52568811	52568811	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:52568811C>T	uc010ydh.1	-	6	2784	c.2324G>A	c.(2323-2325)cGt>cAt	p.R775H	ZNF841_uc002pyl.1_Missense_Mutation_p.R659H	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R775C(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGAGCGATAACGGAAGACCTT	0.438													T	52568811	C	T	52568811	3	4	66	1	0	0	0	0	1	0	0	0	18186	536	19	1	454	1	ZNF841	19	52568811	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	840054	52568811	6560172	70	4317											
LPIN3	64900	broad.mit.edu	37	20	39977494	39977494	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:39977494C>T	uc010ggh.3	+	3	615	c.524C>T	c.(523-525)tCc>tTc	p.S175F	LPIN3_uc002xjx.3_Missense_Mutation_p.S175F|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	175					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGTGAGCTATCCCTGCCGGAA	0.567													T	39977494	C	T	39977494	3	4	66	1	0	0	0	0	1	0	0	0	8920	855	30	3	534	3	LPIN3	20	39977494	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		39977494	23048026	71	4318											
SEMG2	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:43837052C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.R372C|SEMG2_uc002xnj.2_Missense_Mutation_p.R312C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418													T	43837052	C	T	43837052	3	4	66	1	0	0	0	0	1	0	0	0	14045	536	19	1		1	SEMG2	20	43837052	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	3859558	43837052	19188468	72	4319											
ARFGEF2	10564	broad.mit.edu	37	20	47605879	47605879	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:47605879C>A	uc002xtx.4	+	18	2743	c.2591C>A	c.(2590-2592)gCt>gAt	p.A864D	ARFGEF2_uc010zyf.2_Missense_Mutation_p.A157D	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	864					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAGCAAATGGCTAAAACAGCC	0.507													A	47605879	C	A	47605879	3	1	66	1	0	0	0	0	1	0	0	0	853	797	28	5	2665	5	ARFGEF2	20	47605879	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	3768827	47605879	15419641	73	4320											
ZNFX1	57169	broad.mit.edu	37	20	47865786	47865786	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:47865786T>G	uc002xui.3	-	13	4022	c.3775A>C	c.(3775-3777)Atg>Ctg	p.M1259L		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1259			M -> I (in dbSNP:rs6512577).				metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCCGGAGCATGGGGCCTATT	0.527													G	47865786	T	G	47865786	3	3	66	1	0	0	0	0	1	0	0	0	18202	1464	51	5	1985	5	ZNFX1	20	47865786	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	259907	47865786	15159734	74	4321											
MX2	4600	broad.mit.edu	37	21	42771150	42771150	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr21:42771150G>A	uc002yzf.1	+	9	1404	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	MX2_uc002yzg.1_Missense_Mutation_p.E157K|MX2_uc010gop.1_Intron	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	434					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAGGACATCGAAAAGTTAGT	0.373													A	42771150	G	A	42771150	3	1	66	1	0	0	0	0	1	0	0	0	9998	1059	37	2	1334	2	MX2	21	42771150	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		42771150	5358745	75	4322											
KRTAP10-8	386681	broad.mit.edu	37	21	46032419	46032419	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr21:46032419C>T	uc002zfo.1	+	0	424	c.402C>T	c.(400-402)tgC>tgT	p.C134C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	134	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CCGTGTGCTGCGTGTCCATCT	0.627													T	46032419	C	T	46032419	2	4	66	1	0	0	0	0	0	0	0	1	8515	776	27	1		1	KRTAP10-8	21	46032419	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	3261269	46032419	2097476	76	4323											
PI4KA	5297	broad.mit.edu	37	22	21174060	21174060	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr22:21174060G>C	uc002zsz.4	-	5	745	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V	PI4KA_uc010gsq.2_Missense_Mutation_p.L248V	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	162					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGCTCTTCCAGGACACGGAGG	0.522													C	21174060	G	C	21174060	3	2	66	1	0	0	0	0	1	0	0	0	11873	991	35	5	5850	5	PI4KA	22	21174060	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		21174060	30130506	77	4324											
ARSF	416	broad.mit.edu	37	X	3021960	3021960	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:3021960G>A	uc022brz.1	+	8	1396	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	ARSF_uc004cre.2_Silent_p.Q420Q|ARSF_uc004crf.2_Silent_p.Q420Q	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	420						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				GTCTCCCTCAGGACAGGTGAT	0.448													A	3021960	G	A	3021960	2	1	66	1	0	0	0	0	0	0	0	1	991	991	35	3		3	ARSF	23	3021960	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08		3021960	152248600	78	4325											
BCOR	54880	broad.mit.edu	37	X	39930272	39930272	+	Silent	SNP	C	C	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:39930272C>T	uc004den.4	-	5	3484	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	BCOR_uc004dep.4_Silent_p.S1064S|BCOR_uc004deo.4_Silent_p.S1046S|BCOR_uc004dem.4_Silent_p.S1064S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1064					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAGGGTGACCGACTTTGGCT	0.517			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39930272	C	T	39930272	2	4	66	1	0	0	0	0	0	0	0	1	1386	639	23	2		2	BCOR	23	39930272	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	36908312	39930272	115340288	79	4326											
SLC38A5	92745	broad.mit.edu	37	X	48319395	48319395	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:48319395G>T	uc010nid.3	-	12	1107	c.929C>A	c.(928-930)aCc>aAc	p.T310N	SLC38A5_uc004djk.4_Missense_Mutation_p.T259N	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	310					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GTATCCAAAGGTTGCTGTGAG	0.612													T	48319395	G	T	48319395	3	4	66	1	0	0	0	0	1	0	0	0	14607	1261	44	5	509	5	SLC38A5	23	48319395	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	8389123	48319395	106951165	80	4327											
HUWE1	10075	broad.mit.edu	37	X	53573431	53573431	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:53573431G>A	uc004dsp.3	-	69	11283	c.10881C>T	c.(10879-10881)gcC>gcT	p.A3627A	HUWE1_uc004dsn.3_Silent_p.A2435A|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3627					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAGATGGCGGGCTCCATTCA	0.498													A	53573431	G	A	53573431	2	1	66	1	0	0	0	0	0	0	0	1	7461	1219	43	3		3	HUWE1	23	53573431	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	5254036	53573431	101697129	81	4328											
ARMCX2	9823	broad.mit.edu	37	X	100911799	100911799	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:100911799G>A	uc010nnt.2	-	4	1585	c.776C>T	c.(775-777)gCa>gTa	p.A259V	ARMCX2_uc004eid.2_Missense_Mutation_p.A259V|ARMCX2_uc004eie.3_Missense_Mutation_p.A259V|ARMCX2_uc004eif.3_Missense_Mutation_p.A259V|ARMCX2_uc004eig.3_Missense_Mutation_p.A259V|ARMCX2_uc022caq.1_Missense_Mutation_p.A259V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	259	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCAGGGGTTGCTTTCTTGGC	0.597													A	100911799	G	A	100911799	3	1	66	1	0	0	0	0	1	0	0	0	960	1319	46	3	1126	3	ARMCX2	23	100911799	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	47338368	100911799	54358761	82	4329											
NRK	203447	broad.mit.edu	37	X	105153109	105153109	+	Silent	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:105153109G>A	uc004emd.3	+	12	1779	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	NRK_uc010npc.1_Silent_p.Q160Q	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	492	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCTTCTGCAGGTACAGTCCC	0.537										HNSCC(51;0.14)			A	105153109	G	A	105153109	2	1	66	1	0	0	0	0	0	0	0	1	10655	991	35	3		3	NRK	23	105153109	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	4241310	105153109	50117451	83	4330											
DCX	1641	broad.mit.edu	37	X	110644367	110644367	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:110644367G>A	uc004epd.3	-	2	971	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	DCX_uc011msv.2_Missense_Mutation_p.R267C|DCX_uc004epe.3_Missense_Mutation_p.R186C|DCX_uc004epf.3_Missense_Mutation_p.R186C|DCX_uc004epg.3_Missense_Mutation_p.R186C	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	267	Doublecortin 2.		R -> C (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.R267L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACCCCACTGCGGATGATGGTA	0.537													A	110644367	G	A	110644367	3	1	66	1	0	0	0	0	1	0	0	0	4318	1116	39	2	561	2	DCX	23	110644367	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	5491258	110644367	44626193	84	4331											
CNGA2	1260	broad.mit.edu	37	X	150912487	150912487	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:150912487T>A	uc004fey.1	+	6	1736	c.1512T>A	c.(1510-1512)gaT>gaA	p.D504E		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	504					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGCTGATGATGGTGTGA	0.512													A	150912487	T	A	150912487	3	1	66	1	0	0	0	0	1	0	0	0	3597	1461	51	5	1534	5	CNGA2	23	150912487	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	40268120	150912487	4358073	85	4332											
NPHP4	261734	broad.mit.edu	37	1	5965822	5965822	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:5965822C>T	uc001alq.2	-	13	1901	c.1633G>A	c.(1633-1635)Ggt>Agt	p.G545S	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_5'Flank	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	545					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGAGATACCGGCCTCCAAC	0.582													T	5965822	C	T	5965822	3	4	67	1	0	0	0	0	1	0	0	0	10581	652	23	2	2715	2	NPHP4	1	5965822	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		5965822	243284799	1	4333											
PUM1	9698	broad.mit.edu	37	1	31479941	31479941	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:31479941C>G	uc001bsi.1	-	3	554	c.441G>C	c.(439-441)ttG>ttC	p.L147F	PUM1_uc001bsh.1_Missense_Mutation_p.L147F|PUM1_uc001bsj.1_Missense_Mutation_p.L147F|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.L183F|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	147					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTTTACCTGGCAAGAGCTGCT	0.393													G	31479941	C	G	31479941	3	3	67	1	0	0	0	0	1	0	0	0	12825	709	25	5	3201	5	PUM1	1	31479941	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	25514119	31479941	217770680	2	4334											
POLR3C	10623	broad.mit.edu	37	1	145608488	145608488	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:145608488C>T	uc001eog.3	-	2	401	c.358G>A	c.(358-360)Gtt>Att	p.V120I	RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.V107I|POLR3C_uc009wix.3_Missense_Mutation_p.V107I	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	107				SA -> CT (in Ref. 1; AAB63675).	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			AGCTCCTCAACAATCAGCTCT	0.493													T	145608488	C	T	145608488	3	4	67	1	0	0	0	0	1	0	0	0	12230	478	17	3	1337	3	POLR3C	1	145608488	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	114128547	145608488	103642133	3	4335											
C1orf129	80133	broad.mit.edu	37	1	170961347	170961347	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:170961347C>T	uc010plz.2	+	11	1225	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	C1orf129_uc001ghg.3_Silent_p.S357S|C1orf129_uc009wvy.3_Silent_p.S164S	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	357							binding	p.A356V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCAGGCGAGCGTGGCCCCTC	0.493													T	170961347	C	T	170961347	2	4	67	1	0	0	0	0	0	0	0	1	1996	767	27	1		1	C1orf129	1	170961347	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	25352859	170961347	78289274	4	4336											
RYR2	6262	broad.mit.edu	37	1	237604756	237604756	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:237604756C>T	uc001hyl.1	+	12	1263	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	381	MIR 5.				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.S379S(1)|p.V380V(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)			ACGTGAAATCCGTGAGAATGG	0.348													T	237604756	C	T	237604756	2	4	67	1	0	0	0	0	0	0	0	1	13769	639	23	2		2	RYR2	1	237604756	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	66643409	237604756	11645865	5	4337											
PLD5	200150	broad.mit.edu	37	1	242383388	242383388	+	Missense_Mutation	SNP	C	C	T	rs140243407	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:242383388C>T	uc001hzn.2	-	5	864	c.637G>A	c.(637-639)Gct>Act	p.A213T	PLD5_uc021pll.1_Missense_Mutation_p.A121T|PLD5_uc001hzl.4_Missense_Mutation_p.A151T|PLD5_uc001hzm.4_Missense_Mutation_p.A5T|PLD5_uc001hzo.2_Missense_Mutation_p.A121T	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	213						integral to membrane	catalytic activity			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)			TTGTTGTAAGCGGTCATGTTC	0.577													T	242383388	C	T	242383388	3	4	67	1	0	0	0	0	1	0	0	0	12049	768	27	1	997	1	PLD5	1	242383388	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	4778632	242383388	6867233	6	4338											
OR2B11	127623	broad.mit.edu	37	1	247614785	247614785	+	Missense_Mutation	SNP	G	G	A	rs149375684	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:247614785G>A	uc010pyx.2	-	0	500	c.500C>T	c.(499-501)aCg>aTg	p.T167M		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T167M(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	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;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAATTGCACCGTCAGGACCAC	0.592													A	247614785	G	A	247614785	3	1	67	1	0	0	0	0	1	0	0	0	10988	1145	40	1	456	1	OR2B11	1	247614785	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	5231397	247614785	1635836	7	4339											
CLIP4	79745	broad.mit.edu	37	2	29386734	29386734	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:29386734C>G	uc002rmv.3	+	12	1811	c.1572C>G	c.(1570-1572)ggC>ggG	p.G524G	CLIP4_uc002rmu.3_Silent_p.G524G|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	524	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AACCCCATGGCAAGAATGATG	0.388													G	29386734	C	G	29386734	2	3	67	1	0	0	0	0	0	0	0	1	3535	697	25	5		5	CLIP4	2	29386734	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08		29386734	213812639	8	4340											
ACTG2	72	broad.mit.edu	37	2	74128551	74128551	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:74128551G>A	uc002sjw.3	+	1	235	c.113G>A	c.(112-114)cGc>cAc	p.R38H	ACTG2_uc010fex.1_Missense_Mutation_p.R38H|ACTG2_uc010yrn.2_Missense_Mutation_p.R38H|ACTG2_uc010fey.3_Missense_Mutation_p.R38H	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	38					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						ATTGTGGGCCGCCCTCGCCAC	0.637													A	74128551	G	A	74128551	3	1	67	1	0	0	0	0	1	0	0	0	197	1087	38	1	115	1	ACTG2	2	74128551	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	44741817	74128551	169070822	9	4341											
CNTNAP5	129684	broad.mit.edu	37	2	125547685	125547685	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:125547685A>T	uc010flu.3	+	17	3323	c.2959A>T	c.(2959-2961)Aat>Tat	p.N987Y	CNTNAP5_uc002tno.3_Missense_Mutation_p.N986Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	986	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGATTGCACCAATTCACCTTA	0.552													T	125547685	A	T	125547685	3	4	67	1	0	0	0	0	1	0	0	0	3650	130	5	5	3026	5	CNTNAP5	2	125547685	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	51419134	125547685	117651688	10	4342											
CDCA7	83879	broad.mit.edu	37	2	174231123	174231123	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:174231123G>A	uc002uic.1	+	7	1279	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	CDCA7_uc002uid.1_Missense_Mutation_p.R304H|CDCA7_uc010zej.1_Missense_Mutation_p.R339H|CDCA7_uc010zek.1_Missense_Mutation_p.R262H	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	304					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTTCGAAACCGTTATGGTGAA	0.557													A	174231123	G	A	174231123	3	1	67	1	0	0	0	0	1	0	0	0	3090	1145	40	1	1178	1	CDCA7	2	174231123	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	48683438	174231123	68968250	11	4343											
IRS1	3667	broad.mit.edu	37	2	227661504	227661504	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:227661504T>C	uc021vxn.1	-	0	1951	c.1951A>G	c.(1951-1953)Aga>Gga	p.R651G	IRS1_uc002voh.4_Missense_Mutation_p.R651G	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	651					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			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)		GGATGGCGTCTGATGGGATTG	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	227661504	T	C	227661504	3	2	67	1	0	0	0	0	1	0	0	0	7840	1588	55	4	1781	4	IRS1	2	227661504	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	53430381	227661504	15537869	12	4344											
EOMES	8320	broad.mit.edu	37	3	27761789	27761789	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:27761789G>A	uc003cdy.3	-	1	909	c.909C>T	c.(907-909)aaC>aaT	p.N303N	EOMES_uc003cdx.3_Silent_p.N303N|EOMES_uc010hfn.2_Silent_p.N303N|EOMES_uc011axc.1_Silent_p.N8N	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	303					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GTCCGTTTATGTTGAAGCTCA	0.532													A	27761789	G	A	27761789	2	1	67	1	0	0	0	0	0	0	0	1	5147	1368	48	3		3	EOMES	3	27761789	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08		27761789	170260641	13	4345											
ZNF197	10168	broad.mit.edu	37	3	44685661	44685661	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:44685661C>G	uc003cnm.3	+	5	3245	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	1013					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTGAGGAATTCTCTTGGCTAC	0.363													G	44685661	C	G	44685661	3	3	67	1	0	0	0	0	1	0	0	0	17756	912	32	5	3057	5	ZNF197	3	44685661	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	16923872	44685661	153336769	14	4346											
ITIH3	3699	broad.mit.edu	37	3	52840313	52840313	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:52840313C>T	uc003dfv.2	+	17	1983	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	649					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACCAGTGGACGGGGATCCCC	0.582													T	52840313	C	T	52840313	2	4	67	1	0	0	0	0	0	0	0	1	7905	535	19	1		1	ITIH3	3	52840313	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	8154652	52840313	145182117	15	4347											
EPHA3	2042	broad.mit.edu	37	3	89468496	89468496	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:89468496T>A	uc003dqy.3	+	10	2255	c.2030T>A	c.(2029-2031)tTt>tAt	p.F677Y	EPHA3_uc021xbf.1_Missense_Mutation_p.F677Y	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	677	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGGACAGTTTGACCACCCC	0.413										TSP Lung(6;0.00050)			A	89468496	T	A	89468496	3	1	67	1	0	0	0	0	1	0	0	0	5168	1841	64	5	2098	5	EPHA3	3	89468496	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	36628183	89468496	108553934	16	4348											
ADCY5	111	broad.mit.edu	37	3	123166426	123166426	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:123166426G>A	uc003egh.2	-	0	967	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	323					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGCGCTGCGTGGCTGCGGC	0.687													A	123166426	G	A	123166426	3	1	67	1	0	0	0	0	1	0	0	0	297	1145	40	1	2902	1	ADCY5	3	123166426	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	33697930	123166426	74856004	17	4349											
TRH	7200	broad.mit.edu	37	3	129694827	129694827	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:129694827G>A	uc003enc.3	+	1	729	c.168G>A	c.(166-168)cgG>cgA	p.R56R		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	56					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TCTTCCTCCGGGAAAACATCC	0.672													A	129694827	G	A	129694827	2	1	67	1	0	0	0	0	0	0	0	1	16475	1219	43	3		3	TRH	3	129694827	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	6528401	129694827	68327603	18	4350											
MBNL1	4154	broad.mit.edu	37	3	152018103	152018103	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:152018103delA	uc003ezm.3	+	0	910	c.121delA	c.(121-123)aaafs	p.K41fs	MBNL1_uc003ezh.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezi.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezl.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezp.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezn.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezo.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezk.1_Non-coding_Transcript	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	41					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACATCCTTCGAAAAGCTGCCA	0.403													-	152018103	A	-	152018103	7	5	67	1	0	1	0	1	0	0	0	0	9353	247	9	0	123	0	MBNL1	3	152018103	Frame_Shift_Del	DEL	A	TCGA-06-0877-01A-01W-0424-08	22323276	152018103	46004327	19	4351											
DGKG	1608	broad.mit.edu	37	3	186015248	186015248	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:186015248T>G	uc003fqa.3	-	4	872	c.335A>C	c.(334-336)aAt>aCt	p.N112T	DGKG_uc003fqb.3_Missense_Mutation_p.N112T|DGKG_uc003fqc.3_Missense_Mutation_p.N112T|DGKG_uc011brx.2_Missense_Mutation_p.N112T	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	112					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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTTGGTGGCATTATCTGCATT	0.458													G	186015248	T	G	186015248	3	3	67	1	0	0	0	0	1	0	0	0	4469	1493	52	5	2124	5	DGKG	3	186015248	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	33997145	186015248	12007182	20	4352											
TLR6	10333	broad.mit.edu	37	4	38829222	38829222	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:38829222G>A	uc010ifg.2	-	1	1994	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TLR6_uc003gtm.3_Missense_Mutation_p.R625W	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	625					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCCTGCGCCGAGTCTGGGTC	0.512													A	38829222	G	A	38829222	3	1	67	1	0	0	0	0	1	0	0	0	15952	1057	37	2	521	2	TLR6	4	38829222	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		38829222	152325054	21	4353											
UGT2B10	7365	broad.mit.edu	37	4	69696459	69696459	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:69696459C>G	uc003hee.3	+	5	1474	c.1449C>G	c.(1447-1449)acC>acG	p.T483T	UGT2B10_uc011cam.2_Silent_p.T399T	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	483					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACAACCTCACCTGGTTCCAGT	0.483													G	69696459	C	G	69696459	2	3	67	1	0	0	0	0	0	0	0	1	16953	668	24	5		5	UGT2B10	4	69696459	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	30867237	69696459	121457817	22	4354											
PROL1	58503	broad.mit.edu	37	4	71275346	71275346	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:71275346G>T	uc003hfi.3	+	2	475	c.301G>T	c.(301-303)Ggt>Tgt	p.G101C		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	101	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.G101V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACTCTTTCCGGGTTATCCAAA	0.398													T	71275346	G	T	71275346	3	4	67	1	0	0	0	0	1	0	0	0	12554	1232	43	5	307	5	PROL1	4	71275346	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	1578887	71275346	119878930	23	4355											
AFM	173	broad.mit.edu	37	4	74365895	74365895	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:74365895G>A	uc003hhb.3	+	11	1628	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	533	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACCTTTCACGCAGACATGTG	0.393													A	74365895	G	A	74365895	3	1	67	1	0	0	0	0	1	0	0	0	361	1087	38	1	1643	1	AFM	4	74365895	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	3090549	74365895	116788381	24	4356											
ADAMTS16	170690	broad.mit.edu	37	5	5146486	5146486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:5146486C>T	uc003jdl.3	+	2	557	c.419C>T	c.(418-420)cCg>cTg	p.P140L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P140L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P140L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	140					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P140L(3)		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						CAGACTTTACCGCCAGAGGAC	0.522													T	5146486	C	T	5146486	3	4	67	1	0	0	0	0	1	0	0	0	261	652	23	2	429	2	ADAMTS16	5	5146486	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		5146486	175768774	25	4357											
RICTOR	253260	broad.mit.edu	37	5	38972038	38972038	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:38972038C>T	uc003jlo.2	-	10	935	c.913G>A	c.(913-915)Gga>Aga	p.G305R	RICTOR_uc003jlp.2_Missense_Mutation_p.G305R|RICTOR_uc010ivf.2_Missense_Mutation_p.G20R|RICTOR_uc003jlq.1_Missense_Mutation_p.G289R	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	305					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCAGAATTTCCAGGTTTACAT	0.299													T	38972038	C	T	38972038	3	4	67	1	0	0	0	0	1	0	0	0	13358	603	21	3	4325	3	RICTOR	5	38972038	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	33825552	38972038	141943222	26	4358											
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67589138	G	A	67589138	3	1	67	1	0	0	0	0	1	0	0	0	11918	1233	43	3	1290	3	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	28617100	67589138	113326122	27	4359											
ATP10B	23120	broad.mit.edu	37	5	160047524	160047524	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:160047524C>T	uc003lym.1	-	14	3093	c.2246G>A	c.(2245-2247)cGc>cAc	p.R749H	ATP10B_uc010jit.1_Missense_Mutation_p.R66H|ATP10B_uc003lyn.3_Missense_Mutation_p.R307H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	749					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGGGCAGGCGCACAGTCAC	0.612													T	160047524	C	T	160047524	3	4	67	1	0	0	0	0	1	0	0	0	1117	768	27	1	2187	1	ATP10B	5	160047524	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	92458386	160047524	20867736	28	4360											
ALDH5A1	7915	broad.mit.edu	37	6	24502755	24502755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:24502755G>A	uc003nef.3	+	1	387	c.359G>A	c.(358-360)aGg>aAg	p.R120K	ALDH5A1_uc003neg.3_Missense_Mutation_p.R120K	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	120					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TTGCAGGAGAGGAGTTCATTA	0.343													A	24502755	G	A	24502755	3	1	67	1	0	0	0	0	1	0	0	0	502	1000	35	3	365	3	ALDH5A1	6	24502755	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		24502755	146612312	29	4361											
RHAG	6005	broad.mit.edu	37	6	49574864	49574864	+	Silent	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:49574864T>G	uc003ozk.4	-	8	1200	c.1138_splice	c.e8+1	p.G380_splice	RHAG_uc010jzl.3_Splice_Site_p.G380_splice|RHAG_uc010jzm.3_Splice_Site_p.R339_splice	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	380			G -> V (in RHN).		carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TATGCTGACCTGTCATCAGAC	0.398													G	49574864	T	G	49574864	2	3	67	1	0	0	0	0	0	0	0	1	13315	1594	55	5		5	RHAG	6	49574864	Silent	SNP	T	TCGA-06-0877-01A-01W-0424-08	25072109	49574864	121540203	30	4362											
GSTA4	2941	broad.mit.edu	37	6	52850344	52850344	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:52850344T>G	uc003pbf.3	-	3	327	c.177A>C	c.(175-177)gaA>gaC	p.E59D	GSTA4_uc003pbd.3_5'UTR	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	59	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	p.E59K(1)		endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TCCCGTCAATTTCAACCATGG	0.468													G	52850344	T	G	52850344	3	3	67	1	0	0	0	0	1	0	0	0	6833	1838	64	5	507	5	GSTA4	6	52850344	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	3275480	52850344	118264723	31	4363											
AMD1	262	broad.mit.edu	37	6	111210086	111210086	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:111210086G>A	uc003puk.1	+	2	546	c.224G>A	c.(223-225)aGa>aAa	p.R75K	AMD1_uc011eay.1_Missense_Mutation_p.R6K|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Missense_Mutation_p.R46K|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	75					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GTCTCCAAGAGACGTTTCATT	0.393													A	111210086	G	A	111210086	3	1	67	1	0	0	0	0	1	0	0	0	566	942	33	3	234	3	AMD1	6	111210086	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	58359742	111210086	59904981	32	4364											
CCDC129	223075	broad.mit.edu	37	7	31614192	31614192	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:31614192T>C	uc011kae.2	+	6	524	c.512T>C	c.(511-513)gTg>gCg	p.V171A	CCDC129_uc011kad.1_Missense_Mutation_p.V155A|CCDC129_uc003tcj.1_Missense_Mutation_p.V145A|CCDC129_uc003tci.1_Missense_Mutation_p.V144A|CCDC129_uc003tck.1_Missense_Mutation_p.V53A	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	145										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATAGATCCAGTGGAGATTCTC	0.443													C	31614192	T	C	31614192	3	2	67	1	0	0	0	0	1	0	0	0	2764	1696	59	4	456	4	CCDC129	7	31614192	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08		31614192	127524471	33	4365											
NPTX2	4885	broad.mit.edu	37	7	98254242	98254242	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:98254242G>A	uc003upl.2	+	2	829	c.652G>A	c.(652-654)Gcc>Acc	p.A218T		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	218					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCAATAGCGCCTTTAAGTC	0.582													A	98254242	G	A	98254242	3	1	67	1	0	0	0	0	1	0	0	0	10603	1087	38	1	662	1	NPTX2	7	98254242	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	66640050	98254242	60884421	34	4366											
SLC26A4	5172	broad.mit.edu	37	7	107350617	107350617	+	Silent	SNP	A	A	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:107350617A>G	uc003vep.3	+	18	2432	c.2208A>G	c.(2206-2208)caA>caG	p.Q736Q	SLC26A4_uc011kmb.2_Silent_p.Q323Q|SLC26A4_uc011kmc.2_Silent_p.Q297Q|SLC26A4_uc011kmd.2_Silent_p.Q305Q	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	736					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGAAATCTCAAGAGGGTCAAG	0.363									Pendred syndrome				G	107350617	A	G	107350617	2	3	67	1	0	0	0	0	0	0	0	1	14519	69	3	4		4	SLC26A4	7	107350617	Silent	SNP	A	TCGA-06-0877-01A-01W-0424-08	9096375	107350617	51788046	35	4367											
SHH	6469	broad.mit.edu	37	7	155599026	155599026	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:155599026C>T	uc003wmk.1	-	1	677	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.E89K|SHH_uc003wmj.1_Missense_Mutation_p.E89K	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	176			Missing (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTTGGACTCGTAGTACACC	0.652													T	155599026	C	T	155599026	3	4	67	1	0	0	0	0	1	0	0	0	14279	893	31	2	870	2	SHH	7	155599026	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	48248409	155599026	3539637	36	4368			1	11		2	2	16	C		4.263925e-05
SHH	6469	broad.mit.edu	37	7	155599041	155599041	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:155599041C>T	uc003wmk.1	-	1	662	c.511G>A	c.(511-513)Gac>Aac	p.D171N	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.D84N|SHH_uc003wmj.1_Missense_Mutation_p.D84N	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	171			D -> H (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACACCCAGTCGAAGCCGGCC	0.652													T	155599041	C	T	155599041	3	4	67	1	0	0	0	0	1	0	0	0	14279	884	31	2	885	2	SHH	7	155599041	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	15	155599041	3539622	37	4369			1	11		2	2	16	C		4.263925e-05
DLC1	10395	broad.mit.edu	37	8	12952442	12952442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:12952442C>T	uc003wwm.2	-	11	3796	c.3352G>A	c.(3352-3354)Gtc>Atc	p.V1118I	DLC1_uc003wwk.1_Missense_Mutation_p.V681I|DLC1_uc003wwl.1_Missense_Mutation_p.V715I|DLC1_uc011kxx.1_Missense_Mutation_p.V607I	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1118	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGGGACTTGACCCCCGATTTT	0.507													T	12952442	C	T	12952442	3	4	67	1	0	0	0	0	1	0	0	0	4550	507	18	3	1262	3	DLC1	8	12952442	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		12952442	133411580	38	4370											
ELP3	55140	broad.mit.edu	37	8	28017799	28017799	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:28017799G>A	uc003xgo.4	+	12	1459	c.1311G>A	c.(1309-1311)ttG>ttA	p.L437L	ELP3_uc003xgn.4_Silent_p.L422L|ELP3_uc011las.2_Silent_p.L318L|ELP3_uc011lat.2_Silent_p.L318L|ELP3_uc011laq.2_Silent_p.L365L|ELP3_uc011lar.2_Silent_p.L345L	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	437	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AAACATTCTTGTCATACGAAG	0.383													A	28017799	G	A	28017799	2	1	67	1	0	0	0	0	0	0	0	1	5081	1368	48	3		3	ELP3	8	28017799	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	15065357	28017799	118346223	39	4371											
CHD7	55636	broad.mit.edu	37	8	61764695	61764695	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:61764695A>T	uc003xue.3	+	28	6275	c.5783A>T	c.(5782-5784)cAg>cTg	p.Q1928L	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1928					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAAGGCAACAGATGAGGCAA	0.527													T	61764695	A	T	61764695	3	4	67	1	0	0	0	0	1	0	0	0	3330	188	7	5	5893	5	CHD7	8	61764695	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	33746896	61764695	84599327	40	4372											
SLCO5A1	81796	broad.mit.edu	37	8	70744582	70744582	+	Silent	SNP	G	G	A	rs145247874		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:70744582G>A	uc003xyl.3	-	1	1034	c.327C>T	c.(325-327)tcC>tcT	p.S109S	SLCO5A1_uc010lzb.3_Silent_p.S109S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.S109S|SLCO5A1_uc010lzc.2_Silent_p.S109S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	109						integral to membrane|plasma membrane	transporter activity			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)			TGGCCAAGGCGGAGGACACCG	0.622											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70744582	G	A	70744582	2	1	67	1	0	0	0	0	0	0	0	1	14731	1103	39	2		2	SLCO5A1	8	70744582	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	8979887	70744582	75619440	41	4373											
RIMS2	9699	broad.mit.edu	37	8	105160868	105160868	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:105160868G>C	uc003yls.3	+	22	3421	c.3180G>C	c.(3178-3180)atG>atC	p.M1060I	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.M1049I|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	489					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			GCAGACAAATGGGCATATCAG	0.433										HNSCC(12;0.0054)			C	105160868	G	C	105160868	3	2	67	1	0	0	0	0	1	0	0	0	13368	1363	47	5		5	RIMS2	8	105160868	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	34416286	105160868	41203154	42	4374											
SLC24A2	25769	broad.mit.edu	37	9	19786746	19786746	+	Nonsense_Mutation	SNP	A	A	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr9:19786746A>C	uc003zoa.2	-	0	272	c.119T>G	c.(118-120)tTa>tGa	p.L40*	SLC24A2_uc003zob.2_Nonsense_Mutation_p.L40*	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	40					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.V39V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAAAAGGCCTAAGACTCGAAT	0.438													C	19786746	A	C	19786746	4	2	67	1	0	0	0	0	0	1	0	0	14466	372	13	5	1906	5	SLC24A2	9	19786746	Nonsense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08		19786746	121426685	43	4375											
TESK1	7016	broad.mit.edu	37	9	35609460	35609460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr9:35609460G>A	uc003zxa.3	+	9	1938	c.1602G>A	c.(1600-1602)tgG>tgA	p.W534*	TESK1_uc010mks.3_Nonsense_Mutation_p.W374*	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	534					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCCCTGGAACCGGGCCC	0.692													A	35609460	G	A	35609460	4	1	67	1	0	0	0	0	0	1	0	0	15764	1183	41	3	1640	3	TESK1	9	35609460	Nonsense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	15822714	35609460	105603971	44	4376											
ADAMTS14	140766	broad.mit.edu	37	10	72517795	72517795	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:72517795C>T	uc001jrg.3	+	19	3024	c.3024C>T	c.(3022-3024)tgC>tgT	p.C1008C	ADAMTS14_uc001jrh.3_Silent_p.C1005C	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1005	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCGGGCATTGCGAGGGGGATA	0.667													T	72517795	C	T	72517795	2	4	67	1	0	0	0	0	0	0	0	1	259	776	27	1		1	ADAMTS14	10	72517795	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08		72517795	63016952	45	4377											
EIF3A	8661	broad.mit.edu	37	10	120801816	120801816	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:120801816C>G	uc001ldu.3	-	18	3362	c.3216G>C	c.(3214-3216)ggG>ggC	p.G1072G	EIF3A_uc010qsu.2_Silent_p.G1038G|EIF3A_uc009xzg.1_Silent_p.G111G	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1072	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATCATCCAACCCTCGCCTGG	0.637													G	120801816	C	G	120801816	2	3	67	1	0	0	0	0	0	0	0	1	5012	494	18	5		5	EIF3A	10	120801816	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	48284021	120801816	14732931	46	4378											
DHX32	55760	broad.mit.edu	37	10	127527726	127527726	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:127527726G>C	uc001ljf.1	-	8	2216	c.1725C>G	c.(1723-1725)ttC>ttG	p.F575L	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Missense_Mutation_p.F199L|DHX32_uc001ljg.1_Missense_Mutation_p.F575L|BCCIP_uc001ljc.4_Intron|BCCIP_uc010quj.2_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	575						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACAGTTGAGGAAGTAATCAC	0.453													C	127527726	G	C	127527726	3	2	67	1	0	0	0	0	1	0	0	0	4505	1165	41	5	518	5	DHX32	10	127527726	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	6725910	127527726	8007021	47	4379											
ELF5	2001	broad.mit.edu	37	11	34515184	34515184	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:34515184C>T	uc001mvo.1	-	2	457	c.227G>A	c.(226-228)tGc>tAc	p.C76Y	ELF5_uc021qft.1_Intron|ELF5_uc001mvp.2_Missense_Mutation_p.C66Y|ELF5_uc009ykd.2_Intron|ELF5_uc001mvq.2_Missense_Mutation_p.C66Y	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	76	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTGGTCGCAGCAGAACTGGAG	0.527											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	34515184	C	T	34515184	3	4	67	1	0	0	0	0	1	0	0	0	5057	710	25	3	590	3	ELF5	11	34515184	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		34515184	100491332	48	4380											
OR5D13	390142	broad.mit.edu	37	11	55541628	55541628	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55541628A>T	uc010ril.2	+	0	715	c.715A>T	c.(715-717)Act>Tct	p.T239S		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCGCCAGAAAACTTTCTCCAC	0.418													T	55541628	A	T	55541628	3	4	67	1	0	0	0	0	1	0	0	0	11154	43	2	5	717	5	OR5D13	11	55541628	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	21026444	55541628	79464888	49	4381											
OR5L2	26338	broad.mit.edu	37	11	55594866	55594866	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55594866C>A	uc001nhy.1	+	0	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58>?(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)				GCTCCACACCCCCGTGTACTT	0.468										HNSCC(27;0.073)			A	55594866	C	A	55594866	3	1	67	1	0	0	0	0	1	0	0	0	11171	623	22	5	174	5	OR5L2	11	55594866	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	53238	55594866	79411650	50	4382											
OR5W2	390148	broad.mit.edu	37	11	55681471	55681471	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55681471C>G	uc010rir.2	-	0	588	c.588G>C	c.(586-588)gaG>gaC	p.E196D		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATAACACTAACTCATTGACCT	0.383													G	55681471	C	G	55681471	3	3	67	1	0	0	0	0	1	0	0	0	11185	564	20	5	346	5	OR5W2	11	55681471	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	86605	55681471	79325045	51	4383											
OR9G9	504191	broad.mit.edu	37	11	56468275	56468275	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:56468275A>T	uc010rjn.2	+	0	412	c.412A>T	c.(412-414)Aag>Tag	p.K138*	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CATGTCCATAAAGCTGTGTGC	0.493													T	56468275	A	T	56468275	4	4	67	1	0	0	0	0	0	1	0	0	11252	15	1	5	414	5	OR9G9	11	56468275	Nonsense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	786804	56468275	78538241	52	4384											
OR9G9	504191	broad.mit.edu	37	11	56468515	56468515	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:56468515C>A	uc010rjn.2	+	0	652	c.652C>A	c.(652-654)Ctc>Atc	p.L218I	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										GGCCTCCTACCTCTTTATCAT	0.532													A	56468515	C	A	56468515	3	1	67	1	0	0	0	0	1	0	0	0	11252	681	24	5	654	5	OR9G9	11	56468515	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	240	56468515	78538001	53	4385											
HTR3B	9177	broad.mit.edu	37	11	113815368	113815368	+	Silent	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:113815368C>G	uc001pok.3	+	7	1119	c.981C>G	c.(979-981)ctC>ctG	p.L327L	HTR3B_uc001pol.3_Silent_p.L316L	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	327					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TCAAATTCCTCCATGATGAGC	0.557													G	113815368	C	G	113815368	2	3	67	1	0	0	0	0	0	0	0	1	7445	842	30	5		5	HTR3B	11	113815368	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	57346853	113815368	21191148	54	4386											
MAP3K12	7786	broad.mit.edu	37	12	53875972	53875972	+	Missense_Mutation	SNP	C	C	T	rs149876591		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:53875972C>T	uc001sdn.2	-	12	2604	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	MAP3K12_uc001sdm.2_Missense_Mutation_p.R745H	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	745					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TAGTGACTGGCGCATGTTCAG	0.512											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	53875972	C	T	53875972	3	4	67	1	0	0	0	0	1	0	0	0	9246	768	27	1	353	1	MAP3K12	12	53875972	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		53875972	79975923	55	4387											
CUX2	23316	broad.mit.edu	37	12	111748125	111748125	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:111748125C>T	uc001tsa.2	+	14	1693	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	513	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTTCTATGGCGCCAAGCCCC	0.741													T	111748125	C	T	111748125	2	4	67	1	0	0	0	0	0	0	0	1	4065	755	27	1		1	CUX2	12	111748125	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	57872153	111748125	22103770	56	4388											
TMEM132B	114795	broad.mit.edu	37	12	125834741	125834741	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:125834741C>G	uc001uhe.1	+	1	804	c.796C>G	c.(796-798)Cca>Gca	p.P266A	TMEM132B_uc021rgl.1_Missense_Mutation_p.P156A	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	266						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTGGTCTACCCAACCCAAGA	0.577													G	125834741	C	G	125834741	3	3	67	1	0	0	0	0	1	0	0	0	16043	623	22	5	802	5	TMEM132B	12	125834741	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	14086616	125834741	8017154	57	4389											
TBC1D4	9882	broad.mit.edu	37	13	75933904	75933904	+	Splice_Site	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr13:75933904C>T	uc001vjl.1	-	3	1517	c.1170_splice	c.e3+1	p.Q390_splice	TBC1D4_uc010aer.2_Splice_Site_p.Q390_splice|TBC1D4_uc010aes.2_Splice_Site_p.Q390_splice	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	390	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTGATACATACCTGAGAACAA	0.313													T	75933904	C	T	75933904	5	4	67	1	0	0	0	0	0	0	1	0	15619	521	18	3	2801	3	TBC1D4	13	75933904	Splice_Site	SNP	C	TCGA-06-0877-01A-01W-0424-08		75933904	39235974	58	4390											
SERPINA1	5265	broad.mit.edu	37	14	94849558	94849558	+	Missense_Mutation	SNP	G	G	A	rs140814100		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr14:94849558G>A	uc001ycy.4	-	3	571	c.17C>T	c.(16-18)tCg>tTg	p.S6L	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.S6L|SERPINA1_uc010auy.3_Missense_Mutation_p.S6L|SERPINA1_uc001ycz.4_Missense_Mutation_p.S6L|SERPINA1_uc010auz.3_Missense_Mutation_p.S6L|SERPINA1_uc010ava.3_Missense_Mutation_p.S6L|SERPINA1_uc001ydb.4_Missense_Mutation_p.S6L|SERPINA1_uc010avb.3_Missense_Mutation_p.S6L|SERPINA1_uc001ydc.4_Missense_Mutation_p.S6L|SERPINA1_uc010auw.3_Missense_Mutation_p.S6L|SERPINA1_uc010aux.3_Missense_Mutation_p.S6L|SERPINA1_uc001yda.1_Missense_Mutation_p.S6L	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	6					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GATGCCCCACGAGACAGAAGA	0.612													A	94849558	G	A	94849558	3	1	67	1	0	0	0	0	1	0	0	0	14086	1059	37	2	1255	2	SERPINA1	14	94849558	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		94849558	12499982	59	4391											
SLC12A1	6557	broad.mit.edu	37	15	48566793	48566793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:48566793G>A	uc001zwn.4	+	19	2644	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	SLC12A1_uc010uew.1_Missense_Mutation_p.V616M|SLC12A1_uc010bem.3_Missense_Mutation_p.V810M|SLC12A1_uc001zwq.4_Missense_Mutation_p.V581M|SLC12A1_uc001zwr.4_Missense_Mutation_p.V537M	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	810					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGAGATTGGCGTGGTTATAGT	0.383													A	48566793	G	A	48566793	3	1	67	1	0	0	0	0	1	0	0	0	14382	1145	40	1	2602	1	SLC12A1	15	48566793	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		48566793	53964599	60	4392											
ISLR2	57611	broad.mit.edu	37	15	74425374	74425374	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:74425374C>T	uc002axd.3	+	3	1048	c.279C>T	c.(277-279)ggC>ggT	p.G93G	ISLR2_uc002axe.3_Silent_p.G93G|ISLR2_uc010bjg.3_Silent_p.G93G|ISLR2_uc010bjf.3_Silent_p.G93G|ISLR2_uc021sqe.1_Silent_p.G93G	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	93					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGGAGCCAGGCGCACTGGCCG	0.637													T	74425374	C	T	74425374	2	4	67	1	0	0	0	0	0	0	0	1	7859	755	27	1		1	ISLR2	15	74425374	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	25858581	74425374	28106018	61	4393											
PCSK6	5046	broad.mit.edu	37	15	101968175	101968175	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:101968175G>T	uc002bxa.2	-	6	1056	c.742C>A	c.(742-744)Cgt>Agt	p.R248S	PCSK6_uc010bpd.3_Missense_Mutation_p.R119S|PCSK6_uc002bwy.3_Missense_Mutation_p.R248S|PCSK6_uc010bpe.3_Missense_Mutation_p.R245S|PCSK6_uc002bxb.2_Missense_Mutation_p.R248S|PCSK6_uc002bxc.1_Missense_Mutation_p.R248S|PCSK6_uc002bxd.1_Missense_Mutation_p.R248S|PCSK6_uc002bxe.3_Missense_Mutation_p.R248S|PCSK6_uc002bxg.1_Missense_Mutation_p.R248S	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	249	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCGCACAACGAGTGCCGTGT	0.512													T	101968175	G	T	101968175	3	4	67	1	0	0	0	0	1	0	0	0	11604	1058	37	5	2711	5	PCSK6	15	101968175	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	27542801	101968175	563217	62	4394											
UBN1	29855	broad.mit.edu	37	16	4909917	4909917	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:4909917G>A	uc002cyb.3	+	5	958	c.619G>A	c.(619-621)Gac>Aac	p.D207N	UBN1_uc010uxw.2_Missense_Mutation_p.D207N|UBN1_uc002cyc.3_Missense_Mutation_p.D207N	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	207	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAAAAAAGATGACACTTATGA	0.443													A	4909917	G	A	4909917	3	1	67	1	0	0	0	0	1	0	0	0	16889	1290	45	3	637	3	UBN1	16	4909917	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		4909917	85444836	63	4395											
SLC12A3	6559	broad.mit.edu	37	16	56928513	56928513	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:56928513C>T	uc002ekd.4	+	21	2648	c.2619C>T	c.(2617-2619)ttC>ttT	p.F873F	SLC12A3_uc010ccm.3_Silent_p.F864F|SLC12A3_uc010ccn.3_Silent_p.F872F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	864					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCGTGTGTTCGTAGGCGGCC	0.582													T	56928513	C	T	56928513	2	4	67	1	0	0	0	0	0	0	0	1	14384	883	31	2		2	SLC12A3	16	56928513	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	52018596	56928513	33426240	64	4396											
CPNE7	27132	broad.mit.edu	37	16	89656340	89656340	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:89656340G>A	uc002fnp.3	+	12	1452	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	CPNE7_uc002fnq.3_Missense_Mutation_p.R366Q	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	441	VWFA.				lipid metabolic process		transporter activity	p.R441G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TTTGGAGCCCGGATCCCTCCC	0.622													A	89656340	G	A	89656340	3	1	67	1	0	0	0	0	1	0	0	0	3817	1116	39	2	1372	2	CPNE7	16	89656340	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	32727827	89656340	698413	65	4397											
TRPV2	51393	broad.mit.edu	37	17	16321183	16321183	+	Splice_Site	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:16321183G>A	uc002gpy.3	+	2	599	c.200_splice	c.e2+1	p.S67_splice	TRPV2_uc002gpz.3_Splice_Site	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	67	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGTGCCAGGTGAGACAGCA	0.617													A	16321183	G	A	16321183	5	1	67	1	0	0	0	0	0	0	1	0	16593	1275	44	3	203	3	TRPV2	17	16321183	Splice_Site	SNP	G	TCGA-06-0877-01A-01W-0424-08		16321183	64874027	66	4398											
EFCAB5	374786	broad.mit.edu	37	17	28434861	28434861	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:28434861G>A	uc002het.3	+	22	4523	c.4331G>A	c.(4330-4332)cGa>cAa	p.R1444Q	EFCAB5_uc010cse.3_Missense_Mutation_p.R1199Q|EFCAB5_uc010csf.3_Missense_Mutation_p.R795Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1444							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GATCATTCCCGAACTGAAGTA	0.308													A	28434861	G	A	28434861	3	1	67	1	0	0	0	0	1	0	0	0	4938	1058	37	2	4588	2	EFCAB5	17	28434861	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	12113678	28434861	52760349	67	4399											
ERBB2	2064	broad.mit.edu	37	17	37884124	37884124	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:37884124C>A	uc002hso.3	+	26	3833	c.3595C>A	c.(3595-3597)Ccc>Acc	p.P1199T	ERBB2_uc010cwa.3_Missense_Mutation_p.P1184T|ERBB2_uc002hsm.3_Missense_Mutation_p.P1169T|ERBB2_uc002hsp.3_Missense_Mutation_p.P1002T|ERBB2_uc010cwb.3_3'UTR|ERBB2_uc010wek.2_Missense_Mutation_p.P923T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	1199					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTACTTGACACCCCAGGGAGG	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			A	37884124	C	A	37884124	3	1	67	1	0	0	0	0	1	0	0	0	5206	507	18	5	3701	5	ERBB2	17	37884124	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	9449263	37884124	43311086	68	4400											
AOC3	8639	broad.mit.edu	37	17	41003669	41003669	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:41003669G>A	uc002ibv.3	+	0	469	c.309G>A	c.(307-309)ctG>ctA	p.L103L		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	103					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTTGCAGCTGCCTCCCAAGG	0.672													A	41003669	G	A	41003669	2	1	67	1	0	0	0	0	0	0	0	1	728	1306	46	3		3	AOC3	17	41003669	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	3119545	41003669	40191541	69	4401											
KIF2B	84643	broad.mit.edu	37	17	51901522	51901522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:51901522delC	uc002iua.2	+	0	1284	c.1128delC	c.(1126-1128)gtcfs	p.V376fs	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	376	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCTGCAAGTCCTTGAGGATG	0.468													-	51901522	C	-	51901522	7	5	67	1	0	1	0	1	0	0	0	0	8298	842	30	0	1130	0	KIF2B	17	51901522	Frame_Shift_Del	DEL	C	TCGA-06-0877-01A-01W-0424-08	10897853	51901522	29293688	70	4402											
GALNT1	2589	broad.mit.edu	37	18	33257555	33257555	+	Silent	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr18:33257555G>A	uc010dmu.3	+	4	368	c.315_splice	c.e4-1	p.G105_splice	GALNT1_uc002kyz.4_Splice_Site_p.G45_splice|GALNT1_uc002kzb.3_Splice_Site_p.G105_splice	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	105					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TTGTCTCTAGGTGTAAAACAA	0.383													A	33257555	G	A	33257555	2	1	67	1	0	0	0	0	0	0	0	1	6207	1275	44	3		3	GALNT1	18	33257555	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08		33257555	44819693	71	4403											
PARD6G	84552	broad.mit.edu	37	18	77918374	77918374	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr18:77918374C>T	uc002lny.3	-	2	577	c.411G>A	c.(409-411)ccG>ccA	p.P137P	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfo.2_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog gamma (C. elegans) (PARD6G), mRNA.	137	Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GGAAGTCGCGCGGGAGGCCGA	0.731													T	77918374	C	T	77918374	2	4	67	1	0	0	0	0	0	0	0	1	11447	755	27	1		1	PARD6G	18	77918374	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	44660819	77918374	158874	72	4404											
C3	718	broad.mit.edu	37	19	6680227	6680227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:6680227G>T	uc002mfm.3	-	35	4460	c.4398C>A	c.(4396-4398)taC>taA	p.Y1466*		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1466					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.Y1466*(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTACATTAAAGTATTGGTGAA	0.542													T	6680227	G	T	6680227	4	4	67	1	0	0	0	0	0	1	0	0	2204	1024	36	5	617	5	C3	19	6680227	Nonsense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		6680227	52448756	73	4405											
EMR1	2015	broad.mit.edu	37	19	6913826	6913826	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:6913826C>T	uc002mfw.3	+	10	1323	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	EMR1_uc010dvc.3_Missense_Mutation_p.R429W|EMR1_uc010dvb.3_Missense_Mutation_p.R377W|EMR1_uc010xji.2_Missense_Mutation_p.R288W|EMR1_uc010xjj.2_Missense_Mutation_p.R252W	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	429	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498													T	6913826	C	T	6913826	3	4	67	1	0	0	0	0	1	0	0	0	5104	875	31	2	1327	2	EMR1	19	6913826	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	233599	6913826	52215157	74	4406											
GMIP	51291	broad.mit.edu	37	19	19745707	19745707	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:19745707C>T	uc002nnd.3	-	16	1898	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	GMIP_uc010xrb.2_Missense_Mutation_p.R568H|GMIP_uc010xrc.2_Missense_Mutation_p.R565H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	594	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCGCTCCACACGGACCCGGGA	0.592													T	19745707	C	T	19745707	3	4	67	1	0	0	0	0	1	0	0	0	6491	536	19	1	1151	1	GMIP	19	19745707	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	12831881	19745707	39383276	75	4407											
CD22	933	broad.mit.edu	37	19	35837554	35837554	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:35837554G>A	uc010edt.3	+	13	2582	c.2498G>A	c.(2497-2499)cGg>cAg	p.R833Q	CD22_uc010edu.3_Missense_Mutation_p.R745Q|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.R656Q|CD22_uc010xst.2_Missense_Mutation_p.R661Q|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	833					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTCGGGGAGCGGCCTCAGGCA	0.547													A	35837554	G	A	35837554	3	1	67	1	0	0	0	0	1	0	0	0	2985	1116	39	2	2548	2	CD22	19	35837554	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	16091847	35837554	23291429	76	4408											
SIPA1L3	23094	broad.mit.edu	37	19	38633315	38633315	+	Silent	SNP	G	G	T	rs142547881		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:38633315G>T	uc002ohk.3	+	11	4007	c.3498G>T	c.(3496-3498)tcG>tcT	p.S1166S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1166					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			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)			CCCCCGGTTCGGCCACCTACG	0.557											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38633315	G	T	38633315	2	4	67	1	0	0	0	0	0	0	0	1	14331	1103	39	5		5	SIPA1L3	19	38633315	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	2795761	38633315	20495668	77	4409											
LGALS13	29124	broad.mit.edu	37	19	40097889	40097889	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:40097889C>T	uc002omb.3	+	3	370	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	110	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TACGCATTTACGGCTTTGTCC	0.463													T	40097889	C	T	40097889	2	4	67	1	0	0	0	0	0	0	0	1	8740	547	19	1		1	LGALS13	19	40097889	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	1464574	40097889	19031094	78	4410											
RUVBL2	10856	broad.mit.edu	37	19	49507675	49507675	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:49507675G>A	uc002plr.1	+	4	278	c.265_splice	c.e4+1	p.G89_splice	RUVBL2_uc010yab.2_Splice_Site_p.G89_splice|RUVBL2_uc002pls.1_Splice_Site|RUVBL2_uc010emn.1_Splice_Site_p.G44_splice	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	89					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CATCGCCATGGGTAAGAAACC	0.582													A	49507675	G	A	49507675	3	1	67	1	0	0	0	0	1	0	0	0	13753	1246	43	3	279	3	RUVBL2	19	49507675	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	9409786	49507675	9621308	79	4411											
ZNF534	147658	broad.mit.edu	37	19	52942496	52942496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:52942496C>T	uc002pzk.3	+	3	1889	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Nonsense_Mutation_p.R595*	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACACCTTGCGCGACATAGGAA	0.423													T	52942496	C	T	52942496	4	4	67	1	0	0	0	0	0	1	0	0	17970	760	27	1	1836	1	ZNF534	19	52942496	Nonsense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	3434821	52942496	6186487	80	4412											
ZSCAN5B	342933	broad.mit.edu	37	19	56701664	56701664	+	Silent	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:56701664C>T	uc010ygh.2	-	3	1020	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	340					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTGACTGACCGGGCCCGCAG	0.542													T	56701664	C	T	56701664	2	4	67	1	0	0	0	0	0	0	0	1	18236	639	23	2		2	ZSCAN5B	19	56701664	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	3759168	56701664	2427319	81	4413											
RPS5	6193	broad.mit.edu	37	19	58904370	58904370	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:58904370G>T	uc002qsn.3	+	2	208	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S		NM_001009	NP_001000	P46782	RS5_HUMAN	Homo sapiens ribosomal protein S5 (RPS5), mRNA.	46					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GGAGAAGTATGCCAAGTACCT	0.557													T	58904370	G	T	58904370	3	4	67	1	0	0	0	0	1	0	0	0	13648	1319	46	5	142	5	RPS5	19	58904370	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	2202706	58904370	224613	82	4414											
KIF16B	55614	broad.mit.edu	37	20	16407806	16407806	+	Missense_Mutation	SNP	C	C	A	rs76483902		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr20:16407806C>A	uc002wpg.2	-	14	1714	c.1555G>T	c.(1555-1557)Ggg>Tgg	p.G519W	KIF16B_uc010gch.2_Missense_Mutation_p.G519W|KIF16B_uc010gci.2_Missense_Mutation_p.G519W|KIF16B_uc010gcj.2_Missense_Mutation_p.G519W	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	519	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACTGGGACCCACTCAGGGGT	0.428													A	16407806	C	A	16407806	3	1	67	1	0	0	0	0	1	0	0	0	8278	594	21	5	2446	5	KIF16B	20	16407806	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		16407806	46617714	83	4415											
DIDO1	11083	broad.mit.edu	37	20	61542712	61542712	+	Missense_Mutation	SNP	C	C	T	rs138139875		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr20:61542712C>T	uc002ydr.2	-	2	565	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	DIDO1_uc002yds.2_Missense_Mutation_p.G85S|DIDO1_uc002ydt.2_Missense_Mutation_p.G85S|DIDO1_uc002ydu.2_Missense_Mutation_p.G85S|DIDO1_uc002ydv.2_Missense_Mutation_p.G85S|DIDO1_uc002ydw.2_Missense_Mutation_p.G85S|DIDO1_uc002ydx.2_Missense_Mutation_p.G85S|DIDO1_uc011aao.1_Missense_Mutation_p.G85S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	85					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCTCCTGCCGCGGCGCCGC	0.701													T	61542712	C	T	61542712	3	4	67	1	0	0	0	0	1	0	0	0	4522	652	23	2	6655	2	DIDO1	20	61542712	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	45134906	61542712	1482808	84	4416											
COL6A1	1291	broad.mit.edu	37	21	47412280	47412280	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr21:47412280A>T	uc002zhu.1	+	17	1342	c.1240A>T	c.(1240-1242)Aac>Tac	p.N414Y		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	414	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ATCCCAGGGGAACCCAGGACC	0.637													T	47412280	A	T	47412280	3	4	67	1	0	0	0	0	1	0	0	0	3699	246	9	5	1310	5	COL6A1	21	47412280	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08		47412280	717615	85	4417											
HIRA	7290	broad.mit.edu	37	22	19318996	19318996	+	Silent	SNP	A	A	G			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr22:19318996A>G	uc002zpf.1	-	24	3241	c.3021T>C	c.(3019-3021)tgT>tgC	p.C1007C	HIRA_uc011agx.1_Missense_Mutation_p.S844P|HIRA_uc010grn.1_Silent_p.C800C|HIRA_uc010gro.2_Silent_p.C963C	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	1007	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.C1007F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCTGTTCCTGACACTCGGTGA	0.617													G	19318996	A	G	19318996	2	3	67	1	0	0	0	0	0	0	0	1	7120	273	10	4		4	HIRA	22	19318996	Silent	SNP	A	TCGA-06-0877-01A-01W-0424-08		19318996	31985570	86	4418											
VPREB1	7441	broad.mit.edu	37	22	22599423	22599423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr22:22599423C>T	uc002zvx.1	+	1	138	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	38	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		AACCACAATCCGCCTCACCTG	0.632													T	22599423	C	T	22599423	3	4	67	1	0	0	0	0	1	0	0	0	17183	652	23	2	118	2	VPREB1	22	22599423	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	3280427	22599423	28705143	87	4419											
P2RY4	5030	broad.mit.edu	37	X	69479145	69479145	+	Silent	SNP	G	G	A	rs146718292	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chrX:69479145G>A	uc004dxz.1	-	0	510	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	110					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GAAAGCGGACGAACTTGCAGA	0.542													A	69479145	G	A	69479145	2	1	67	1	0	0	0	0	0	0	0	1	11353	1049	37	2		2	P2RY4	23	69479145	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08		69479145	85791415	88	4420											
HSPG2	3339	broad.mit.edu	37	1	22206668	22206668	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:22206668C>T	uc009vqd.3	-	16	2318	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	HSPG2_uc001bfj.3_Missense_Mutation_p.G759S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	759	Laminin EGF-like 1; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GAGCAGGTGCCCAGGTAGGGC	0.577													T	22206668	C	T	22206668	3	4	68	1	0	0	0	0	1	0	0	0	7430	623	22	3	11224	3	HSPG2	1	22206668	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08		22206668	227043953	1	4421											
GBP5	115362	broad.mit.edu	37	1	89729595	89729595	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:89729595G>A	uc001dnc.3	-	8	1723	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	GBP5_uc001dnd.3_Missense_Mutation_p.R396W|GBP5_uc001dne.1_Missense_Mutation_p.R396W	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	396						plasma membrane	GTP binding|GTPase activity	p.R396Q(2)|p.R396L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCCAGGTTCCGTTTACAAATG	0.378													A	89729595	G	A	89729595	3	1	68	1	0	0	0	0	1	0	0	0	6277	1144	40	1	590	1	GBP5	1	89729595	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	67522927	89729595	159521026	2	4422											
AMY2B	280	broad.mit.edu	37	1	104122114	104122114	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:104122114A>C	uc010ouo.2	+	21	3232	c.1528A>C	c.(1528-1530)Aaa>Caa	p.K510Q	AMY2B_uc001duq.3_Missense_Mutation_p.K510Q|AMY2B_uc001dur.3_Missense_Mutation_p.K510Q|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	510					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGCTGAATCtaaattataaaa	0.284													C	104122114	A	C	104122114	3	2	68	1	0	0	0	0	1	0	0	0	595	363	13	5	1566	5	AMY2B	1	104122114	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	14392519	104122114	145128507	3	4423											
FCRL3	115352	broad.mit.edu	37	1	157667597	157667597	+	Silent	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:157667597T>C	uc001fqz.4	-	4	703	c.411A>G	c.(409-411)ggA>ggG	p.G137G	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.G137G|FCRL3_uc001frc.1_Silent_p.G137G	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	137	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAAGCTGTTTTCCATCCTTGT	0.363													C	157667597	T	C	157667597	2	2	68	1	0	0	0	0	0	0	0	1	5796	1770	62	4		4	FCRL3	1	157667597	Silent	SNP	T	TCGA-06-0878-01A-01W-0424-08	53545483	157667597	91583024	4	4424											
ZNF692	55657	broad.mit.edu	37	1	249148230	249148230	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:249148230G>T	uc001ifc.2	-	9	1270	c.1059C>A	c.(1057-1059)caC>caA	p.H353Q	ZNF692_uc001iez.2_Missense_Mutation_p.H75Q|ZNF692_uc001ifb.2_Missense_Mutation_p.H149Q|ZNF692_uc010pzr.2_Missense_Mutation_p.H358Q|ZNF692_uc001iff.2_Missense_Mutation_p.H308Q	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCTGGTGGATGTGCTGGTACT	0.512													T	249148230	G	T	249148230	3	4	68	1	0	0	0	0	1	0	0	0	18094	1368	48	5	512	5	ZNF692	1	249148230	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	91480633	249148230	102391	5	4425											
ALLC	55821	broad.mit.edu	37	2	3743415	3743415	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:3743415G>T	uc010ewt.3	+	7	781	c.620G>T	c.(619-621)tGt>tTt	p.C207F	ALLC_uc002qyf.3_5'UTR	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	226							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGGGTGTCTGTGTAGGATTT	0.448										HNSCC(21;0.051)			T	3743415	G	T	3743415	3	4	68	1	0	0	0	0	1	0	0	0	534	1377	48	5	646	5	ALLC	2	3743415	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		3743415	239455958	6	4426											
TMEM182	130827	broad.mit.edu	37	2	103379127	103379133	+	Frame_Shift_Del	DEL	ATTTGGA	ATTTGGA	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:103379127_103379133delATTTGGA	uc010fjb.3	+	1	401_407	c.214_220delATTTGGA	c.(214-222)atttggaagfs	p.I72fs	TMEM182_uc002tcc.4_Frame_Shift_Del_p.I29fs|TMEM182_uc002tcd.4_5'UTR	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	72						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGACTCCAATATTTGGAAGTTCTGGTA	0.362													-	103379133	ATTTGGA	-	103379127	7	5	68	1	0	1	0	1	0	0	0	0	16098	449	16	0	220	0	TMEM182	2	103379127	Frame_Shift_Del	DEL	ATTTGGA	TCGA-06-0878-01A-01W-0424-08	99635712	103379127	139820246	7	4427											
ITGB6	3694	broad.mit.edu	37	2	161025770	161025770	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:161025770C>T	uc002ubh.2	-	6	985	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.V324M|ITGB6_uc010zcq.1_Missense_Mutation_p.V282M|ITGB6_uc010fov.1_Missense_Mutation_p.V324M	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	324	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATCAATAACACGTTGTTTTGT	0.294													T	161025770	C	T	161025770	3	4	68	1	0	0	0	0	1	0	0	0	7899	536	19	1	1432	1	ITGB6	2	161025770	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	57646643	161025770	82173603	8	4428											
DNAH7	56171	broad.mit.edu	37	2	196865488	196865488	+	Silent	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:196865488G>A	uc002utj.4	-	11	1394	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	431	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						TAATCATGACGTCATAAACAT	0.338													A	196865488	G	A	196865488	2	1	68	1	0	0	0	0	0	0	0	1	4606	1136	40	1		1	DNAH7	2	196865488	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08	35839718	196865488	46333885	9	4429											
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:227660808_227660810delGCT	uc021vxn.1	-	0	2645_2647	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_uc002voh.4_In_Frame_Del_p.Q882del	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	882	Poly-Gln.				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			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)		TGCAGCAAGGgctgctgctgctg	0.626													-	227660810	GCT	-	227660808	7	5	68	1	0	1	0	1	0	0	0	0	7840	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-06-0878-01A-01W-0424-08	30795320	227660808	15538565	10	4430											
FBLN2	2199	broad.mit.edu	37	3	13672223	13672223	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr3:13672223G>A	uc011avc.2	+	14	3375	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	FBLN2_uc011auz.2_Missense_Mutation_p.R977H|FBLN2_uc011avb.2_Missense_Mutation_p.R951H|FBLN2_uc011ava.2_Missense_Mutation_p.R998H	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	990	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAGGCCCAGCGCTGCAGCCAG	0.607													A	13672223	G	A	13672223	3	1	68	1	0	0	0	0	1	0	0	0	5699	1087	38	1	1737	1	FBLN2	3	13672223	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		13672223	184350207	11	4431											
ATP11B	23200	broad.mit.edu	37	3	182585181	182585181	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr3:182585181T>C	uc003flb.3	+	14	1894	c.1637T>C	c.(1636-1638)aTt>aCt	p.I546T	ATP11B_uc003flc.3_Missense_Mutation_p.I130T	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	546					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATTGTGTTTATTGGCAATTCT	0.294													C	182585181	T	C	182585181	3	2	68	1	0	0	0	0	1	0	0	0	1120	1493	52	4	1695	4	ATP11B	3	182585181	Missense_Mutation	SNP	T	TCGA-06-0878-01A-01W-0424-08	168912958	182585181	15437249	12	4432											
CTBP1	1487	broad.mit.edu	37	4	1206064	1206064	+	Silent	SNP	G	G	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:1206064G>C	uc003gcw.3	-	8	1455	c.1290C>G	c.(1288-1290)ccC>ccG	p.P430P	AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.P418P|CTBP1_uc003gcv.1_Silent_p.P429P	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	429					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TATCCGCCTCGGGCTTGACGG	0.692													C	1206064	G	C	1206064	2	2	68	1	0	0	0	0	0	0	0	1	3997	1103	39	5		5	CTBP1	4	1206064	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08		1206064	189948212	13	4433											
CLNK	116449	broad.mit.edu	37	4	10515205	10515205	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:10515205C>A	uc003gmo.4	-	15	926	c.789G>T	c.(787-789)atG>atT	p.M263I		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	263					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AACAGGGCTGCATGCCTCCTC	0.502													A	10515205	C	A	10515205	3	1	68	1	0	0	0	0	1	0	0	0	3547	710	25	5	513	5	CLNK	4	10515205	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	9309141	10515205	180639071	14	4434											
DCHS2	54798	broad.mit.edu	37	4	155252747	155252747	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:155252747C>T	uc003inw.2	-	9	2353	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	785	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tctcctaattcacagaaCAGA	0.483													T	155252747	C	T	155252747	3	4	68	1	0	0	0	0	1	0	0	0	4288	835	29	3	6557	3	DCHS2	4	155252747	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	144737542	155252747	35901529	15	4435											
CTNND2	1501	broad.mit.edu	37	5	11022883	11022883	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:11022883A>C	uc003jfa.1	-	16	3142	c.2997T>G	c.(2995-2997)gaT>gaG	p.D999E	CTNND2_uc010itt.2_Missense_Mutation_p.D908E|CTNND2_uc011cmy.1_Missense_Mutation_p.D662E|CTNND2_uc011cmz.1_Missense_Mutation_p.D566E|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.D591E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	999					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAACTTACTTATCTCCTTTGC	0.488													C	11022883	A	C	11022883	3	2	68	1	0	0	0	0	1	0	0	0	4020	446	16	5	704	5	CTNND2	5	11022883	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08		11022883	169892377	16	4436											
PCDHAC2	56140	broad.mit.edu	37	5	140222517	140222517	+	Silent	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:140222517G>A	uc003lhs.2	+	0	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.A537A	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.667													A	140222517	G	A	140222517	2	1	68	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140222517	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08	129199634	140222517	40692743	17	4437											
DOCK2	1794	broad.mit.edu	37	5	169122848	169122848	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:169122848G>T	uc003maf.3	+	9	965	c.885G>T	c.(883-885)ttG>ttT	p.L295F	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	295					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			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)			AAATTTACTTGATTTGTCAAA	0.463													T	169122848	G	T	169122848	3	4	68	1	0	0	0	0	1	0	0	0	4687	1281	45	5	923	5	DOCK2	5	169122848	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	28900331	169122848	11792412	18	4438											
HCRTR2	3062	broad.mit.edu	37	6	55142306	55142306	+	Silent	SNP	A	A	G			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr6:55142306A>G	uc003pcl.3	+	4	1206	c.891A>G	c.(889-891)cgA>cgG	p.R297R	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	297					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCAGATCCGAGCCAGAAGGA	0.493													G	55142306	A	G	55142306	2	3	68	1	0	0	0	0	0	0	0	1	7002	291	11	4		4	HCRTR2	6	55142306	Silent	SNP	A	TCGA-06-0878-01A-01W-0424-08		55142306	115972761	19	4439											
GHRHR	2692	broad.mit.edu	37	7	31016925	31016925	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:31016925C>T	uc003tbx.3	+	11	1182	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	GHRHR_uc003tby.3_Silent_p.F314F|GHRHR_uc003tbz.3_Missense_Mutation_p.P145S	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	378					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TCTACTGCTTCCTCAACCAAG	0.552													T	31016925	C	T	31016925	2	4	68	1	0	0	0	0	0	0	0	1	6373	854	30	3		3	GHRHR	7	31016925	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08		31016925	128121738	20	4440											
EGFR	1956	broad.mit.edu	37	7	55221781	55221781	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221781C>T	uc003tqk.3	+	6	1071	c.825C>T	c.(823-825)taC>taT	p.Y275Y	EGFR_uc003tqh.3_Silent_p.Y275Y|EGFR_uc003tqi.3_Silent_p.Y275Y|EGFR_uc003tqj.3_Silent_p.Y275Y|EGFR_uc022adm.1_Silent_p.Y275Y|EGFR_uc010kzg.2_Silent_p.Y230Y|EGFR_uc022adn.1_Silent_p.Y230Y|EGFR_uc011kco.2_Silent_p.Y222Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	275					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCACCACGTACCAGATGGATG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221781	C	T	55221781	2	4	68	1	0	0	0	0	0	0	0	1	4967	518	18	3		3	EGFR	7	55221781	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	24204856	55221781	103916882	21	4441			1	12		3	3	41	N	GC_C	2.833128e-09
EGFR	1956	broad.mit.edu	37	7	55221796	55221796	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221796C>T	uc003tqk.3	+	6	1086	c.840C>T	c.(838-840)aaC>aaT	p.N280N	EGFR_uc003tqh.3_Silent_p.N280N|EGFR_uc003tqi.3_Silent_p.N280N|EGFR_uc003tqj.3_Silent_p.N280N|EGFR_uc022adm.1_Silent_p.N280N|EGFR_uc010kzg.2_Silent_p.N235N|EGFR_uc022adn.1_Silent_p.N235N|EGFR_uc011kco.2_Silent_p.N227N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	280					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGGATGTGAACCCCGAGGGCA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221796	C	T	55221796	2	4	68	1	0	0	0	0	0	0	0	1	4967	506	18	3		3	EGFR	7	55221796	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	15	55221796	103916867	22	4442			1	12		3	3	41	N	GC_C	2.833128e-09
EGFR	1956	broad.mit.edu	37	7	55221821	55221822	+	Missense_Mutation	DNP	GC	GC	AT	rs149840192		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221821_55221822GC>AT	uc003tqk.3	+	6	1111_1112	c.865_866GC>AT	c.(865-867)gcc>ATc	p.A289I	EGFR_uc003tqh.3_Missense_Mutation_p.A289I|EGFR_uc003tqi.3_Missense_Mutation_p.A289I|EGFR_uc003tqj.3_Missense_Mutation_p.A289I|EGFR_uc022adm.1_Missense_Mutation_p.A289I|EGFR_uc010kzg.2_Missense_Mutation_p.A244I|EGFR_uc022adn.1_Missense_Mutation_p.A244I|EGFR_uc011kco.2_Missense_Mutation_p.A236I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289T(6)|p.A289D(6)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGTG	0.589		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			AT	55221822	GC	AT	55221821	3	1	68	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	DNP	GC	TCGA-06-0878-01A-01W-0424-08	25	55221821	103916842	23	4443			1	12		3	3	41	N	GC_C	2.833128e-09
SEMA3E	9723	broad.mit.edu	37	7	82997221	82997221	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:82997221A>C	uc003uhy.2	-	16	2630	c.2009T>G	c.(2008-2010)tTg>tGg	p.L670W	SEMA3E_uc022agy.1_Missense_Mutation_p.L610W	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	670					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CACTACCTCCAAGGTGATTTT	0.468													C	82997221	A	C	82997221	3	2	68	1	0	0	0	0	1	0	0	0	14028	131	5	5	322	5	SEMA3E	7	82997221	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	27775400	82997221	76141442	24	4444											
ZAN	7455	broad.mit.edu	37	7	100350611	100350611	+	Silent	SNP	A	A	G			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:100350611A>G	uc003uwj.3	+	13	3048	c.2883A>G	c.(2881-2883)aaA>aaG	p.K961K	ZAN_uc003uwk.3_Silent_p.K961K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	961	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			CCACAGAAAAACCCACCATCT	0.512													G	100350611	A	G	100350611	2	3	68	1	0	0	0	0	0	0	0	1	17510	40	2	4		4	ZAN	7	100350611	Silent	SNP	A	TCGA-06-0878-01A-01W-0424-08	17353390	100350611	58788052	25	4445											
LAMB4	22798	broad.mit.edu	37	7	107706946	107706946	+	Missense_Mutation	SNP	C	C	T	rs148837121		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:107706946C>T	uc010ljo.1	-	19	2630	c.2546G>A	c.(2545-2547)cGc>cAc	p.R849H	LAMB4_uc003vey.2_Missense_Mutation_p.R849H|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	849	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCCAGGCAGCGATCACAGCG	0.532													T	107706946	C	T	107706946	3	4	68	1	0	0	0	0	1	0	0	0	8613	768	27	1	2799	1	LAMB4	7	107706946	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	7356335	107706946	51431717	26	4446											
MLL3	58508	broad.mit.edu	37	7	151892993	151892993	+	Silent	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:151892993T>C	uc003wla.3	-	28	4597	c.4378_splice	c.e28+1	p.D1460_splice	MLL3_uc003wkz.3_Splice_Site_p.D521_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1460					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CATATATACCTGAATGATCAA	0.363			N		medulloblastoma								C	151892993	T	C	151892993	2	2	68	1	0	0	0	0	0	0	0	1	9622	1594	55	4		4	MLL3	7	151892993	Silent	SNP	T	TCGA-06-0878-01A-01W-0424-08	44186047	151892993	7245670	27	4447											
PREX2	80243	broad.mit.edu	37	8	69104577	69104577	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr8:69104577G>A	uc003xxv.1	+	36	4448	c.4421G>A	c.(4420-4422)aGg>aAg	p.R1474K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1474					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCTAATGAGGCCTCTCAAC	0.413													A	69104577	G	A	69104577	3	1	68	1	0	0	0	0	1	0	0	0	12477	1000	35	3	4796	3	PREX2	8	69104577	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		69104577	77259445	28	4448											
LPAR1	1902	broad.mit.edu	37	9	113704320	113704320	+	Silent	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:113704320A>C	uc011lwo.2	-	1	179	c.177T>G	c.(175-177)acT>acG	p.T59T	LPAR1_uc004bfa.3_Silent_p.T58T|LPAR1_uc011lwm.2_Silent_p.T59T|LPAR1_uc004bfc.3_Silent_p.T58T|LPAR1_uc011lwn.2_Silent_p.T40T|LPAR1_uc004bfb.3_Silent_p.T58T|LPAR1_uc010mub.3_Silent_p.T58T	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	58					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGATACAAACAGTGATTCCAA	0.438													C	113704320	A	C	113704320	2	2	68	1	0	0	0	0	0	0	0	1	8904	175	7	5		5	LPAR1	9	113704320	Silent	SNP	A	TCGA-06-0878-01A-01W-0424-08		113704320	27509111	29	4449											
TRAF1	7185	broad.mit.edu	37	9	123675735	123675735	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:123675735C>T	uc004bku.2	-	4	1148	c.576G>A	c.(574-576)ggG>ggA	p.G192G	TRAF1_uc011lyg.2_Silent_p.G70G|TRAF1_uc010mvl.2_Silent_p.G192G	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	192					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	p.G192G(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CACGCAGCTTCCCCTCCAGCT	0.612													T	123675735	C	T	123675735	2	4	68	1	0	0	0	0	0	0	0	1	16434	842	30	3		3	TRAF1	9	123675735	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	9971415	123675735	17537696	30	4450											
GOLGA1	2800	broad.mit.edu	37	9	127670739	127670739	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:127670739C>T	uc004bpc.3	-	11	1324	c.982G>A	c.(982-984)Gag>Aag	p.E328K	GOLGA1_uc010mws.3_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	328						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AAATTCTGCTCAGCAAGTGTT	0.418													T	127670739	C	T	127670739	3	4	68	1	0	0	0	0	1	0	0	0	6551	835	29	3	1369	3	GOLGA1	9	127670739	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	3995004	127670739	13542692	31	4451											
KCNT1	57582	broad.mit.edu	37	9	138667205	138667205	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:138667205A>C	uc011mdq.2	+	19	2367	c.2293A>C	c.(2293-2295)Acc>Ccc	p.T765P	KCNT1_uc011mdr.2_Missense_Mutation_p.T592P|KCNT1_uc010nbf.3_Missense_Mutation_p.T720P|KCNT1_uc004cgo.1_Missense_Mutation_p.T514P	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	765						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGCTCCCCAACCCTGTGCCA	0.662													C	138667205	A	C	138667205	3	2	68	1	0	0	0	0	1	0	0	0	8091	43	2	5	2371	5	KCNT1	9	138667205	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	10996466	138667205	2546226	32	4452											
COL17A1	1308	broad.mit.edu	37	10	105823552	105823552	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr10:105823552G>A	uc001kxr.3	-	10	960	c.791C>T	c.(790-792)gCg>gTg	p.A264V	COL17A1_uc010qqv.1_Missense_Mutation_p.A248V|COL17A1_uc009xxp.1_Missense_Mutation_p.A264V	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	264	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.A264A(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAGCAGGACGCCATGTTGTT	0.517													A	105823552	G	A	105823552	3	1	68	1	0	0	0	0	1	0	0	0	3674	1087	38	1	3886	1	COL17A1	10	105823552	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		105823552	29711195	33	4453											
OR8H2	390151	broad.mit.edu	37	11	55873034	55873034	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr11:55873034C>T	uc010riy.2	+	0	516	c.516C>T	c.(514-516)aaC>aaT	p.N172N		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACGACTCAAACGTAATTCATC	0.428										HNSCC(53;0.14)			T	55873034	C	T	55873034	2	4	68	1	0	0	0	0	0	0	0	1	11238	535	19	1		1	OR8H2	11	55873034	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08		55873034	79133482	34	4454											
SUV420H1	51111	broad.mit.edu	37	11	67941367	67941370	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr11:67941367_67941370delAAAT	uc001onm.1	-	5	810_813	c.554_557delATTT	c.(553-558)tatttgfs	p.Y185fs	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Frame_Shift_Del_p.Y13fs|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Frame_Shift_Del_p.Y185fs|SUV420H1_uc010rqa.1_Frame_Shift_Del_p.Y162fs	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAACATTCGCAAATAAATAAATAC	0.319													-	67941370	AAAT	-	67941367	7	5	68	1	0	1	0	1	0	0	0	0	15411	131	5	0	2132	0	SUV420H1	11	67941367	Frame_Shift_Del	DEL	AAAT	TCGA-06-0878-01A-01W-0424-08	12068333	67941367	67065149	35	4455											
ADAMTS20	80070	broad.mit.edu	37	12	43770043	43770043	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:43770043A>T	uc010skx.2	-	33	5216	c.5216T>A	c.(5215-5217)aTa>aAa	p.I1739K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1739	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAATACCTTTATTATTCTTCC	0.274													T	43770043	A	T	43770043	3	4	68	1	0	0	0	0	1	0	0	0	266	449	16	5	539	5	ADAMTS20	12	43770043	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08		43770043	90081852	36	4456											
NCKAP1L	3071	broad.mit.edu	37	12	54913072	54913072	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:54913072C>T	uc001sgc.4	+	15	1660	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	NCKAP1L_uc010sox.2_Silent_p.S69S|NCKAP1L_uc010soy.2_Silent_p.S477S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	527					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCTGGACTCCGTAGAAAAAT	0.438													T	54913072	C	T	54913072	2	4	68	1	0	0	0	0	0	0	0	1	10222	639	23	2		2	NCKAP1L	12	54913072	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	11143029	54913072	78938823	37	4457											
PPFIA2	8499	broad.mit.edu	37	12	81688794	81688794	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:81688794C>T	uc001szo.2	-	23	2906	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.A841A|PPFIA2_uc021rbh.1_Silent_p.A816A|PPFIA2_uc021rbi.1_Silent_p.A915A|PPFIA2_uc021rbj.1_Silent_p.A915A|PPFIA2_uc021rbk.1_Silent_p.A900A|PPFIA2_uc021rbl.1_Silent_p.A915A|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.A482A|PPFIA2_uc021rbf.1_Silent_p.A132A	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	841										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCACGTACCACGCAGGCATTC	0.403													T	81688794	C	T	81688794	2	4	68	1	0	0	0	0	0	0	0	1	12310	523	19	1		1	PPFIA2	12	81688794	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	26775722	81688794	52163101	38	4458											
MYO1H	283446	broad.mit.edu	37	12	109843786	109843786	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:109843786C>T	uc010sxn.1	+	6	861	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTGAAGAAGACGACCAAGGCT	0.498													T	109843786	C	T	109843786	2	4	68	1	0	0	0	0	0	0	0	1	10075	535	19	1		1	MYO1H	12	109843786	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	28154992	109843786	24008109	39	4459											
C12orf51	283450	broad.mit.edu	37	12	112703783	112703783	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:112703783C>T	uc021reb.1	-	14	2361	c.1965G>A	c.(1963-1965)gaG>gaA	p.E655E	C12orf51_uc010syk.1_Silent_p.E190E|C12orf51_uc001tts.2_Silent_p.E190E|C12orf51_uc001ttt.3_Silent_p.E190E	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CACTGTTTCTCTCTCCTAACA	0.418													T	112703783	C	T	112703783	2	4	68	1	0	0	0	0	0	0	0	1	1696	912	32	3		3	C12orf51	12	112703783	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	2859997	112703783	21148112	40	4460											
ATP8B4	79895	broad.mit.edu	37	15	50254197	50254197	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr15:50254197C>A	uc001zxu.3	-	13	1406	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	ATP8B4_uc010ber.3_Missense_Mutation_p.D295Y|ATP8B4_uc010ufd.2_Missense_Mutation_p.D295Y|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	422					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTCTTCTGATCCAGGTCATCA	0.264													A	50254197	C	A	50254197	3	1	68	1	0	0	0	0	1	0	0	0	1197	855	30	5	2374	5	ATP8B4	15	50254197	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08		50254197	52277195	41	4461											
ITFG3	83986	broad.mit.edu	37	16	315011	315012	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:315011_315012delGT	uc002cgf.3	+	12	1844_1845	c.1649_1650delGT	c.(1648-1650)agtfs	p.S550fs	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Frame_Shift_Del_p.S550fs	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	550						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGGTACCAGAGTGAGGCGTAGA	0.649													-	315012	GT	-	315011	7	5	68	1	0	1	0	1	0	0	0	0	7871	1029	36	0	1691	0	ITFG3	16	315011	Frame_Shift_Del	DEL	GT	TCGA-06-0878-01A-01W-0424-08		315011	90039742	42	4462											
UMOD	7369	broad.mit.edu	37	16	20357449	20357449	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:20357449G>A	uc002dhb.3	-	6	1410	c.1281_splice	c.e6+1	p.T427_splice	UMOD_uc002dgz.3_Splice_Site_p.T394_splice|UMOD_uc002dha.3_Splice_Site_p.T394_splice	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	394	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.T394M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGTACCGTCAACACTGT	0.567													A	20357449	G	A	20357449	3	1	68	1	0	0	0	0	1	0	0	0	16976	1159	40	1	769	1	UMOD	16	20357449	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	20042438	20357449	69997304	43	4463											
NOD2	64127	broad.mit.edu	37	16	50731207	50731209	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:50731207_50731209delTCC	uc002egm.1	+	0	158_160	c.53_55delTCC	c.(52-57)gtcctc>gtc	p.L20del	NOD2_uc010cbj.1_Intron|NOD2_uc021tia.1_Intron|NOD2_uc010cbk.1_Intron|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	20					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGAGCAAGTGTCCTCCTCGGACA	0.601													-	50731209	TCC	-	50731207	7	5	68	1	0	1	0	1	0	0	0	0	10517	1667	58	0	55	0	NOD2	16	50731207	In_Frame_Del	DEL	TCC	TCGA-06-0878-01A-01W-0424-08	30373758	50731207	39623546	44	4464											
ATP2C2	9914	broad.mit.edu	37	16	84472802	84472802	+	Silent	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:84472802G>A	uc010chj.3	+	11	1106	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	ATP2C2_uc002fhx.3_Silent_p.L339L|ATP2C2_uc002fhy.3_Silent_p.L356L|ATP2C2_uc002fhz.3_Silent_p.L188L	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	339					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAGAGGGTCTGCCCATCGTCG	0.572													A	84472802	G	A	84472802	2	1	68	1	0	0	0	0	0	0	0	1	1144	1306	46	3		3	ATP2C2	16	84472802	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08	33741595	84472802	5881951	45	4465											
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:40395919G>A	uc002omp.4	-	14	7486	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627													A	40395919	G	A	40395919	3	1	68	1	0	0	0	0	1	0	0	0	5778	1203	42	3	8827	3	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		40395919	18733064	46	4466											
RAB4B	53916	broad.mit.edu	37	19	41292794	41292794	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:41292794G>A	uc002opd.2	+	6	725	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Non-coding_Transcript|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.G216R	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	190					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CATTCAGTACGGGGATGCGTC	0.682													A	41292794	G	A	41292794	3	1	68	1	0	0	0	0	1	0	0	0	12947	1116	39	2	594	2	RAB4B	19	41292794	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	896875	41292794	17836189	47	4467											
AXL	558	broad.mit.edu	37	19	41726597	41726597	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:41726597C>T	uc010ehj.3	+	1	332	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	AXL_uc010ehi.1_Missense_Mutation_p.R48W|AXL_uc010ehk.3_Missense_Mutation_p.R48W	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	48	Ig-like C2-type 1.|Interaction with GAS6.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R48W(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CACAGGTGCCCGGGGACTCAC	0.622													T	41726597	C	T	41726597	3	4	68	1	0	0	0	0	1	0	0	0	1238	643	23	2	148	2	AXL	19	41726597	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	433803	41726597	17402386	48	4468											
ERCC1	2067	broad.mit.edu	37	19	45912970	45912970	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:45912970A>G	uc002pbs.2	-	9	1003	c.857T>C	c.(856-858)tTt>tCt	p.F286S	CD3EAP_uc002pbq.1_3'UTR|CD3EAP_uc002pbr.1_3'UTR|ERCC1_uc002pbt.2_Missense_Mutation_p.F262S|ERCC1_uc002pbu.2_Missense_Mutation_p.F214S	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	286					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	p.L285M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CAGGACATCAAACAGCCTCCG	0.502								Nucleotide excision repair (NER)					G	45912970	A	G	45912970	3	3	68	1	0	0	0	0	1	0	0	0	5212	14	1	4	40	4	ERCC1	19	45912970	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	4186373	45912970	13216013	49	4469											
NCR1	9437	broad.mit.edu	37	19	55420770	55420770	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:55420770G>C	uc002qib.2	+	3	560	c.522G>C	c.(520-522)gaG>gaC	p.E174D	NCR1_uc002qic.2_Missense_Mutation_p.E174D|NCR1_uc002qie.2_Missense_Mutation_p.E174D|NCR1_uc002qid.2_Missense_Mutation_p.E79D|NCR1_uc002qif.2_Missense_Mutation_p.E79D|NCR1_uc010esj.2_Missense_Mutation_p.E67D	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	174	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	p.A173V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCCAGGCGGAGTTCCCCCTGG	0.572													C	55420770	G	C	55420770	3	2	68	1	0	0	0	0	1	0	0	0	10237	1020	36	5	536	5	NCR1	19	55420770	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	9507800	55420770	3708213	50	4470											
CHGB	1114	broad.mit.edu	37	20	5903131	5903131	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr20:5903131G>A	uc002wmg.3	+	3	647	c.341G>A	c.(340-342)gGc>gAc	p.G114D	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	114						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GACATCCAAGGCCCAACAAAG	0.607													A	5903131	G	A	5903131	3	1	68	1	0	0	0	0	1	0	0	0	3339	1203	42	3	355	3	CHGB	20	5903131	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		5903131	57122389	51	4471											
LSM14B	149986	broad.mit.edu	37	20	60697790	60697790	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr20:60697790G>A	uc010gjy.1	+	0	274	c.68G>A	c.(67-69)cGc>cAc	p.R23H	LSM14B_uc002ybt.2_Missense_Mutation_p.R23H|LSM14B_uc010gjx.1_Missense_Mutation_p.R23H|LSM14B_uc010gjz.1_5'Flank|LSM14B_uc010zzz.1_5'Flank	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	23					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCGCAGATCCGCTACGAGGGC	0.706													A	60697790	G	A	60697790	3	1	68	1	0	0	0	0	1	0	0	0	9055	1087	38	1	70	1	LSM14B	20	60697790	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	54794659	60697790	2327730	52	4472											
KRTAP19-1	337882	broad.mit.edu	37	21	31852408	31852408	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr21:31852408G>A	uc011acx.2	-	0	229	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.R77H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TACGATGGGCGGCAGCAGCCA	0.488													A	31852408	G	A	31852408	3	1	68	1	0	0	0	0	1	0	0	0	8528	1116	39	2	45	2	KRTAP19-1	21	31852408	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		31852408	16277487	53	4473											
KRTAP20-2	337976	broad.mit.edu	37	21	32007726	32007726	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr21:32007726T>A	uc011adg.2	+	0	144	c.144T>A	c.(142-144)taT>taA	p.Y48*		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	48						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GCTATGGATATGGCTGCTGCC	0.557													A	32007726	T	A	32007726	4	1	68	1	0	0	0	0	0	1	0	0	8537	1471	51	5	146	5	KRTAP20-2	21	32007726	Nonsense_Mutation	SNP	T	TCGA-06-0878-01A-01W-0424-08	155318	32007726	16122169	54	4474											
BCL2L13	23786	broad.mit.edu	37	22	18178948	18178948	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:18178948C>T	uc002zmw.3	+	4	646	c.428C>T	c.(427-429)aCc>aTc	p.T143I	BCL2L13_uc002zmu.3_Missense_Mutation_p.T143I|BCL2L13_uc002zmx.3_5'UTR|BCL2L13_uc002zmy.3_Intron|BCL2L13_uc010gqy.3_Intron|BCL2L13_uc011agk.2_Intron|BCL2L13_uc010gqz.3_Intron|BCL2L13_uc002zmz.3_Intron	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	143					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		ACACTGGAGACCACAGTTCAT	0.383													T	18178948	C	T	18178948	3	4	68	1	0	0	0	0	1	0	0	0	1371	507	18	3	442	3	BCL2L13	22	18178948	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08		18178948	33125618	55	4475											
TMPRSS6	164656	broad.mit.edu	37	22	37482392	37482392	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:37482392C>T	uc003aqt.1	-	7	966	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V311I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V302I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	311	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCTTCCAGACGACCGCCATG	0.667													T	37482392	C	T	37482392	3	4	68	1	0	0	0	0	1	0	0	0	16248	536	19	1	1548	1	TMPRSS6	22	37482392	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	19303444	37482392	13822174	56	4476											
TBC1D22A	25771	broad.mit.edu	37	22	47189513	47189513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:47189513G>A	uc003bib.3	+	2	401	c.235G>A	c.(235-237)Gat>Aat	p.D79N	TBC1D22A_uc010haf.3_Missense_Mutation_p.D49N|TBC1D22A_uc003bie.3_Missense_Mutation_p.D60N|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.D32N	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	79						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGAGGACGACGATGAGCTCCT	0.647													A	47189513	G	A	47189513	3	1	68	1	0	0	0	0	1	0	0	0	15608	1058	37	2	245	2	TBC1D22A	22	47189513	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	9707121	47189513	4115053	57	4477											
SCML2	10389	broad.mit.edu	37	X	18275064	18275064	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chrX:18275064G>A	uc004cyl.2	-	10	1517	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.H454Y|SCML2_uc011miz.1_Missense_Mutation_p.H388Y|SCML2_uc010nfc.2_Missense_Mutation_p.H190Y	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	454					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGCAGACTGTGGCAGAAGTTC	0.468													A	18275064	G	A	18275064	3	1	68	1	0	0	0	0	1	0	0	0	13910	1348	47	3	762	3	SCML2	23	18275064	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		18275064	136995496	58	4478											
KLHL13	90293	broad.mit.edu	37	X	117054239	117054239	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chrX:117054239A>T	uc011mtp.2	-	3	477	c.344T>A	c.(343-345)aTg>aAg	p.M115K	KLHL13_uc004eqk.3_Missense_Mutation_p.M61K|KLHL13_uc004eql.3_Missense_Mutation_p.M112K|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.M106K|KLHL13_uc011mtq.2_Missense_Mutation_p.M96K|KLHL13_uc004eqm.3_Missense_Mutation_p.M70K|KLHL13_uc022cde.1_Missense_Mutation_p.M96K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	112	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCAGATGCCATCATGACTCT	0.408													T	117054239	A	T	117054239	3	4	68	1	0	0	0	0	1	0	0	0	8369	217	8	5	1652	5	KLHL13	23	117054239	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	98779175	117054239	38216321	59	4479											
SMPDL3B	27293	broad.mit.edu	37	1	28285085	28285085	+	Silent	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:28285085G>A	uc001bpg.3	+	7	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	SMPDL3B_uc010ofq.2_Silent_p.P162P|SMPDL3B_uc010ofr.2_Silent_p.P320P|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	368					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ATGGGGTGCCGGACGCCAGCG	0.617													A	28285085	G	A	28285085	2	1	69	1	0	0	0	0	0	0	0	1	14809	1103	39	2		2	SMPDL3B	1	28285085	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08		28285085	220965536	1	4480											
BRDT	676	broad.mit.edu	37	1	92479806	92479806	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:92479806C>A	uc001dol.4	+	19	3237	c.2819C>A	c.(2818-2820)aCa>aAa	p.T940K	BRDT_uc010osz.2_Missense_Mutation_p.T944K|BRDT_uc001dok.4_Missense_Mutation_p.T940K|BRDT_uc009wdf.3_Missense_Mutation_p.T867K|BRDT_uc010otb.2_Missense_Mutation_p.T894K|BRDT_uc010ota.2_Missense_Mutation_p.T894K|BRDT_uc001dom.4_Missense_Mutation_p.T940K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			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)		GACATTATGACAATGTTTGAA	0.269													A	92479806	C	A	92479806	3	1	69	1	0	0	0	0	1	0	0	0	1508	478	17	5	2889	5	BRDT	1	92479806	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	64194721	92479806	156770815	2	4481											
COL11A1	1301	broad.mit.edu	37	1	103345386	103345386	+	Silent	SNP	A	A	G			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:103345386A>G	uc001dum.3	-	65	5481	c.5163T>C	c.(5161-5163)aaT>aaC	p.N1721N	COL11A1_uc001duk.3_Silent_p.N905N|COL11A1_uc001dul.3_Silent_p.N1709N|COL11A1_uc001dun.3_Silent_p.N1670N|COL11A1_uc009weh.3_Silent_p.N1593N	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1709	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			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)		GGTAGGTGAAATTTTGCCGAG	0.423													G	103345386	A	G	103345386	2	3	69	1	0	0	0	0	0	0	0	1	3667	98	4	4		4	COL11A1	1	103345386	Silent	SNP	A	TCGA-06-0879-01A-01W-0424-08	10865580	103345386	145905235	3	4482											
SLC6A17	388662	broad.mit.edu	37	1	110740739	110740739	+	Silent	SNP	A	A	G			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:110740739A>G	uc009wfq.3	+	11	2318	c.1857A>G	c.(1855-1857)gcA>gcG	p.A619A		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	619					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGGCCATGGCACTCCTGATCA	0.657													G	110740739	A	G	110740739	2	3	69	1	0	0	0	0	0	0	0	1	14680	146	6	4		4	SLC6A17	1	110740739	Silent	SNP	A	TCGA-06-0879-01A-01W-0424-08	7395353	110740739	138509882	4	4483											
NCF2	4688	broad.mit.edu	37	1	183542320	183542320	+	Silent	SNP	C	C	T	rs147657171		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:183542320C>T	uc001gqj.4	-	5	884	c.609_splice	c.e5+1	p.T203_splice	NCF2_uc010pod.2_Splice_Site_p.T158_splice|NCF2_uc010poe.2_Intron|NCF2_uc001gqk.4_Splice_Site_p.T203_splice	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	203					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCCCACCTACCGTCGCCTTGC	0.572													T	183542320	C	T	183542320	2	4	69	1	0	0	0	0	0	0	0	1	10217	666	23	2		2	NCF2	1	183542320	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	72801581	183542320	65708301	5	4484											
GALNT2	2590	broad.mit.edu	37	1	230314000	230314000	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:230314000G>C	uc010pwa.1	+	1	235	c.163G>C	c.(163-165)Gac>Cac	p.D55H	GALNT2_uc010pvy.1_Missense_Mutation_p.D17H|GALNT2_uc010pvz.1_Intron	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	55					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TAAAAAGAAAGACCTTCATCA	0.473													C	230314000	G	C	230314000	3	2	69	1	0	0	0	0	1	0	0	0	6213	942	33	5	169	5	GALNT2	1	230314000	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	46771680	230314000	18936621	6	4485											
LGALS8	3964	broad.mit.edu	37	1	236704996	236704996	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:236704996A>G	uc001hxz.2	+	6	889	c.508A>G	c.(508-510)Ata>Gta	p.I170V	LGALS8_uc001hxw.2_Missense_Mutation_p.I170V|LGALS8_uc001hxy.2_Missense_Mutation_p.I170V|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.I170V|LGALS8_uc001hyc.2_Intron	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	170						cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACTGACAGAGATAAGTAGAGA	0.308													G	236704996	A	G	236704996	3	3	69	1	0	0	0	0	1	0	0	0	8747	333	12	4	526	4	LGALS8	1	236704996	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	6390996	236704996	12545625	7	4486											
VN1R5	317705	broad.mit.edu	37	1	247419512	247419512	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:247419512A>G	uc010pyu.2	+	2	136	c.136_splice	c.e2-1	p.I46_splice		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	47					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			TACCATATAAATCTTCTTTTA	0.353													G	247419512	A	G	247419512	3	3	69	1	0	0	0	0	1	0	0	0	17178	101	4	4	141	4	VN1R5	1	247419512	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	10714516	247419512	1831109	8	4487											
FAM136A	84908	broad.mit.edu	37	2	70524589	70524589	+	Silent	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:70524589G>A	uc002sgq.4	-	2	326	c.249C>T	c.(247-249)acC>acT	p.T83T	FAM136A_uc010fdp.3_Non-coding_Transcript	NM_032822	NP_116211	Q96C01	F136A_HUMAN	Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.	83						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGCAATGCATGGTGCACCGGG	0.512													A	70524589	G	A	70524589	2	1	69	1	0	0	0	0	0	0	0	1	5450	1335	47	3		3	FAM136A	2	70524589	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08		70524589	172674784	9	4488											
TEKT4	150483	broad.mit.edu	37	2	95537709	95537709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:95537709G>A	uc002stw.1	+	0	478	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	129					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTGGAGCGCGCCCTGGACGC	0.657													A	95537709	G	A	95537709	3	1	69	1	0	0	0	0	1	0	0	0	15752	1087	38	1	387	1	TEKT4	2	95537709	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	25013120	95537709	147661664	10	4489											
SCN1A	6323	broad.mit.edu	37	2	166847871	166847871	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:166847871T>A	uc002udo.4	-	27	6141	c.5914A>T	c.(5914-5916)Aaa>Taa	p.K1972*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.K1944*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.K1961*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1972						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGATCAGTTTTTTCTGTAATA	0.363													A	166847871	T	A	166847871	4	1	69	1	0	0	0	0	0	1	0	0	13914	1850	64	5	119	5	SCN1A	2	166847871	Nonsense_Mutation	SNP	T	TCGA-06-0879-01A-01W-0424-08	71310162	166847871	76351502	11	4490											
OSBPL6	114880	broad.mit.edu	37	2	179253861	179253861	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:179253861G>A	uc002uly.3	+	21	2901	c.2357G>A	c.(2356-2358)tGc>tAc	p.C786Y	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.C761Y|OSBPL6_uc010zfe.2_Missense_Mutation_p.C730Y|OSBPL6_uc002ulz.3_Missense_Mutation_p.C725Y|OSBPL6_uc002uma.3_Missense_Mutation_p.C765Y	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	761					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTTTGCATTTGCAAACTCACA	0.333													A	179253861	G	A	179253861	3	1	69	1	0	0	0	0	1	0	0	0	11281	1319	46	3	2478	3	OSBPL6	2	179253861	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	12405990	179253861	63945512	12	4491											
TTN	7273	broad.mit.edu	37	2	179634524	179634524	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:179634524C>A	uc021vsy.1	-	36	9009	c.8784G>T	c.(8782-8784)aaG>aaT	p.K2928N	TTN_uc021vsz.1_Missense_Mutation_p.K2882N|TTN_uc021vta.1_Missense_Mutation_p.K2882N|TTN_uc021vtb.1_Missense_Mutation_p.K2882N|TTN_uc002unb.2_Missense_Mutation_p.K2928N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2928	Ig-like 16.						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)			GCACAACTATCTTGAACTTTT	0.458													A	179634524	C	A	179634524	3	1	69	1	0	0	0	0	1	0	0	0	16732	912	32	5	102508	5	TTN	2	179634524	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	380663	179634524	63564849	13	4492											
ZSWIM2	151112	broad.mit.edu	37	2	187692829	187692829	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:187692829C>G	uc002upu.1	-	8	1824	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	595					apoptosis		zinc ion binding			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)			CATACAGTTACTATACCTTTT	0.338													G	187692829	C	G	187692829	3	3	69	1	0	0	0	0	1	0	0	0	18238	565	20	5	121	5	ZSWIM2	2	187692829	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	8058305	187692829	55506544	14	4493											
FAM126B	285172	broad.mit.edu	37	2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	rs138872845		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:201846441C>T	uc002uws.4	-	11	1333	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	FAM126B_uc002uwu.3_Missense_Mutation_p.R356H|FAM126B_uc002uwv.3_Missense_Mutation_p.R382H	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	382						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493													T	201846441	C	T	201846441	3	4	69	1	0	0	0	0	1	0	0	0	5430	536	19	1	451	1	FAM126B	2	201846441	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	14153612	201846441	41352932	15	4494											
CHRNG	1146	broad.mit.edu	37	2	233405386	233405386	+	Silent	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:233405386C>T	uc002vsx.1	+	3	336	c.315C>T	c.(313-315)acC>acT	p.T105T	CHRNG_uc010fyd.3_Silent_p.T105T|CHRNG_uc010fye.1_Silent_p.T105T	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	105					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TGCCGTCCACCATGGTGTGGC	0.652													T	233405386	C	T	233405386	2	4	69	1	0	0	0	0	0	0	0	1	3396	581	21	3		3	CHRNG	2	233405386	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	31558945	233405386	9793987	16	4495											
ITPR1	3708	broad.mit.edu	37	3	4716846	4716846	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:4716846G>A	uc003bqc.3	+	21	2998	c.2648G>A	c.(2647-2649)tGt>tAt	p.C883Y	ITPR1_uc021wsi.1_Missense_Mutation_p.C898Y|ITPR1_uc021wsj.1_Missense_Mutation_p.C883Y|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	898					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATATTGGACTGTGTACATGTG	0.393													A	4716846	G	A	4716846	3	1	69	1	0	0	0	0	1	0	0	0	7920	1377	48	3	2775	3	ITPR1	3	4716846	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		4716846	193305584	17	4496											
SRGAP3	9901	broad.mit.edu	37	3	9034619	9034619	+	Silent	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:9034619C>T	uc003brf.1	-	19	3205	c.2529G>A	c.(2527-2529)tcG>tcA	p.S843S	SRGAP3_uc003brg.1_Silent_p.S819S	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	843					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGCCGTAATCCGAGATGTGCT	0.557			T	RAF1	pilocytic astrocytoma								T	9034619	C	T	9034619	2	4	69	1	0	0	0	0	0	0	0	1	15146	639	23	2		2	SRGAP3	3	9034619	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	4317773	9034619	188987811	18	4497											
SLC6A6	6533	broad.mit.edu	37	3	14509599	14509599	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:14509599C>A	uc010heg.3	+	8	1274	c.975C>A	c.(973-975)gaC>gaA	p.D325E	SLC6A6_uc003byq.3_Missense_Mutation_p.D325E|SLC6A6_uc003byr.3_Intron	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	325					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						AACTTAGGGACTGTATGCTGC	0.453											OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	14509599	C	A	14509599	3	1	69	1	0	0	0	0	1	0	0	0	14688	564	20	5	1005	5	SLC6A6	3	14509599	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	5474980	14509599	183512831	19	4498											
ADCY5	111	broad.mit.edu	37	3	123003491	123003491	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:123003491C>A	uc003egh.2	-	20	3750	c.3750G>T	c.(3748-3750)atG>atT	p.M1250I	ADCY5_uc021xdd.1_Missense_Mutation_p.M900I|ADCY5_uc003egg.2_Missense_Mutation_p.M908I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1250					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGAAGTAGGTCATCATCTCGC	0.607													A	123003491	C	A	123003491	3	1	69	1	0	0	0	0	1	0	0	0	297	826	29	5	39	5	ADCY5	3	123003491	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	108493892	123003491	75018939	20	4499											
ATP2C1	27032	broad.mit.edu	37	3	130672707	130672707	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:130672707A>G	uc011bli.2	+	7	972	c.676A>G	c.(676-678)Aca>Gca	p.T226A	ATP2C1_uc011blg.2_Missense_Mutation_p.T226A|ATP2C1_uc011blh.2_Missense_Mutation_p.T187A|ATP2C1_uc003enk.3_Missense_Mutation_p.T176A|ATP2C1_uc003enl.3_Missense_Mutation_p.T192A|ATP2C1_uc003enm.3_Missense_Mutation_p.T192A|ATP2C1_uc003enn.3_Missense_Mutation_p.T176A|ATP2C1_uc003eno.3_Missense_Mutation_p.T192A|ATP2C1_uc003enp.3_Missense_Mutation_p.T192A|ATP2C1_uc003ent.3_Missense_Mutation_p.T192A|ATP2C1_uc003ens.3_Missense_Mutation_p.T192A	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	192					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GACAGGTGAGACAACGCCTTG	0.438									Hailey-Hailey disease				G	130672707	A	G	130672707	3	3	69	1	0	0	0	0	1	0	0	0	1143	275	10	4	604	4	ATP2C1	3	130672707	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	7669216	130672707	67349723	21	4500											
AADACL2	344752	broad.mit.edu	37	3	151475174	151475174	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:151475174C>T	uc003ezc.3	+	4	1118	c.998C>T	c.(997-999)aCc>aTc	p.T333I	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.T120I	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	333						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTGCCACTAACCTATATTCTT	0.378													T	151475174	C	T	151475174	3	4	69	1	0	0	0	0	1	0	0	0	11	507	18	3	1016	3	AADACL2	3	151475174	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	20802467	151475174	46547256	22	4501											
PIK3CA	5290	broad.mit.edu	37	3	178928081	178928081	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:178928081A>C	uc003fjk.3	+	7	1516	c.1359A>C	c.(1357-1359)gaA>gaC	p.E453D		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(9)|p.E453Q(3)|p.P449_L455del(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.E453A(1)|p.E453del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATGGATTAGAAGATTTGCTGA	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178928081	A	C	178928081	3	2	69	1	0	0	0	0	1	0	0	0	11913	69	3	5	1385	5	PIK3CA	3	178928081	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	27452907	178928081	19094349	23	4502	6	2									
PIK3CA	5290	broad.mit.edu	37	3	178928087	178928101	+	In_Frame_Del	DEL	GCTGAACCCTATTGG	GCTGAACCCTATTGG	-			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:178928087_178928101delGCTGAACCCTATTGG	uc003fjk.3	+	7	1522_1536	c.1365_1379delGCTGAACCCTATTGG	c.(1363-1380)ttgctgaaccctattggt>ttt	p.455_460LLNPIG>F		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	455	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N457K(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAGAAGATTTGCTGAACCCTATTGGTGTTACTGGA	0.33		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178928101	GCTGAACCCTATTGG	-	178928087	7	5	69	1	0	1	0	1	0	0	0	0	11913	1310	46	0	1391	0	PIK3CA	3	178928087	In_Frame_Del	DEL	GCTGAACCCTATTGG	TCGA-06-0879-01A-01W-0424-08	6	178928087	19094343	24	4503	6	2									
FBN2	2201	broad.mit.edu	37	5	127728897	127728897	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:127728897C>T	uc003kuu.3	-	9	1835	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	FBN2_uc003kuv.2_Missense_Mutation_p.G433S	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	466					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGAGAAAAGCCATTGCCTCCA	0.587													T	127728897	C	T	127728897	3	4	69	1	0	0	0	0	1	0	0	0	5703	594	21	3	7566	3	FBN2	5	127728897	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		127728897	53186363	25	4504											
PCDHB3	56132	broad.mit.edu	37	5	140481943	140481943	+	Silent	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140481943G>A	uc003lio.3	+	0	1710	c.1710G>A	c.(1708-1710)gcG>gcA	p.A570A	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	570	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			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)			ACGGCTCCGCGCCCTGCACCG	0.711													A	140481943	G	A	140481943	2	1	69	1	0	0	0	0	0	0	0	1	11543	1074	38	1		1	PCDHB3	5	140481943	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08	12753046	140481943	40433317	26	4505											
PCDHB8	56128	broad.mit.edu	37	5	140558277	140558277	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140558277C>T	uc011dai.2	+	0	907	c.662C>T	c.(661-663)cCg>cTg	p.P221L	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	221	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P221L(2)		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)			GGTGGCTCTCCGCCCAGATCT	0.522													T	140558277	C	T	140558277	3	4	69	1	0	0	0	0	1	0	0	0	11548	652	23	2	664	2	PCDHB8	5	140558277	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	76334	140558277	40356983	27	4506											
PCDHB13	56123	broad.mit.edu	37	5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140594357C>T	uc003lja.1	+	0	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P221L(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532													T	140594357	C	T	140594357	3	4	69	1	0	0	0	0	1	0	0	0	11538	652	23	2	664	2	PCDHB13	5	140594357	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	36080	140594357	40320903	28	4507											
PCDHGC5	56107	broad.mit.edu	37	5	140782948	140782948	+	Silent	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140782948C>T	uc003lkh.2	+	0	429	c.429C>T	c.(427-429)aaC>aaT	p.N143N	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.N143N	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	143	Cadherin 2.				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)			TAAAAATTAACGAAATCGCGG	0.473													T	140782948	C	T	140782948	2	4	69	1	0	0	0	0	0	0	0	1	11571	535	19	1		1	PCDHGC5	5	140782948	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	188591	140782948	40132312	29	4508											
AFAP1L1	134265	broad.mit.edu	37	5	148687124	148687124	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:148687124G>A	uc003lqh.3	+	6	826	c.695G>A	c.(694-696)cGt>cAt	p.R232H	AFAP1L1_uc003lqg.4_Missense_Mutation_p.R232H|AFAP1L1_uc010jgy.3_Missense_Mutation_p.R232H	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	232	PH 1.						protein binding	p.R232C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAAAAGCGTTTCGGGCAG	0.627													A	148687124	G	A	148687124	3	1	69	1	0	0	0	0	1	0	0	0	354	1145	40	1	721	1	AFAP1L1	5	148687124	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	7904176	148687124	32228136	30	4509											
FAT2	2196	broad.mit.edu	37	5	150901299	150901299	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:150901299C>T	uc003lue.4	-	17	10868	c.10855G>A	c.(10855-10857)Gtg>Atg	p.V3619M	FAT2_uc003lud.4_Missense_Mutation_p.V312M	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3619	Cadherin 32.				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)			ACATGCCACACGTACACATGG	0.627													T	150901299	C	T	150901299	3	4	69	1	0	0	0	0	1	0	0	0	5690	536	19	1	2218	1	FAT2	5	150901299	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	2214175	150901299	30013961	31	4510											
MDN1	23195	broad.mit.edu	37	6	90387330	90387330	+	Silent	SNP	G	G	A	rs116003199	by1000genomes	TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr6:90387330G>A	uc003pnn.1	-	75	12614	c.12498C>T	c.(12496-12498)agC>agT	p.S4166S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4166					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGACAATGCGCTCTGGAGAT	0.423													A	90387330	G	A	90387330	2	1	69	1	0	0	0	0	0	0	0	1	9415	1078	38	1		1	MDN1	6	90387330	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08		90387330	80727737	32	4511											
ASCC3	10973	broad.mit.edu	37	6	101248186	101248186	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr6:101248186G>A	uc003pqk.3	-	5	1446	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	ASCC3_uc011eai.1_Missense_Mutation_p.R275W|ASCC3_uc003pql.3_Missense_Mutation_p.R373W	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R373W(2)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTTGTATCCGCAATTCCTTA	0.348													A	101248186	G	A	101248186	3	1	69	1	0	0	0	0	1	0	0	0	1033	1086	38	1	5639	1	ASCC3	6	101248186	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	10860856	101248186	69866881	33	4512											
TMEM200A	114801	broad.mit.edu	37	6	130762663	130762663	+	Missense_Mutation	SNP	G	G	A	rs140251464		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr6:130762663G>A	uc003qcb.3	+	1	3474	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	TMEM200A_uc003qca.3_Missense_Mutation_p.G366R|TMEM200A_uc010kfh.3_Missense_Mutation_p.G366R|TMEM200A_uc010kfi.3_Missense_Mutation_p.G366R|TMEM200A_uc021zfg.1_Missense_Mutation_p.G366R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	366						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TATGGCTCTCGGACCTGGGGC	0.522													A	130762663	G	A	130762663	3	1	69	1	0	0	0	0	1	0	0	0	16120	1117	39	2	1098	2	TMEM200A	6	130762663	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	29514477	130762663	40352404	34	4513											
EGFR	1956	broad.mit.edu	37	7	55249010	55249011	+	In_Frame_Ins	INS	-	-	ACAACCCCC			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr7:55249010_55249011insACAACCCCC	uc003tqk.3	+	19	2554_2555	c.2308_2309insACAACCCCC	c.(2308-2310)gac>gACAACCCCCac	p.773_774insNPH	EGFR_uc022adm.1_In_Frame_Ins_p.773_774insNPH|EGFR_uc010kzg.2_In_Frame_Ins_p.728_729insNPH|EGFR_uc022adn.1_In_Frame_Ins_p.728_729insNPH|EGFR_uc011kco.2_In_Frame_Ins_p.720_721insNPH|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.8_9insNPH	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	773	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H773_V774insNPH(15)|p.V769_D770insASV(14)|p.P772_H773insPR(11)|p.H773R(9)|p.V774M(5)|p.V774_C775insHV(4)|p.H773_V774insPH(3)|p.D770>GY(3)|p.H773_V774insH(3)|p.V769_D770insGVV(3)|p.D770N(2)|p.P772_H773insYNP(2)|p.P772_H773insX(2)|p.D770_P772>ASVDNR(2)|p.N771_P772insN(2)|p.N771_P772insH(2)|p.H773L(2)|p.H773Y(2)|p.V769_D770insMASVD(2)|p.N771_P772>SVDNR(2)|p.H773_V774insGH(1)|p.V769_D770insCV(1)|p.H773_V774insG(1)|p.H773_V774insQ(1)|p.P772_H773insV(1)|p.H773_V774insGNPH(1)|p.V774del(1)|p.D770fs*61(1)|p.P772_H773insHV(1)|p.V769_D770insGSV(1)|p.V774L(1)|p.V769_D770insDNV(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.N771_P772insRH(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.D770_N771insDG(1)|p.P772H(1)|p.H773_V774>LM(1)|p.D770_N771>AGG(1)|p.P772P(1)|p.P772S(1)|p.P772R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGCCAGCGTGGACAACCCCCAC	0.649		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			ACAACCCCC	55249011	-	ACAACCCCC	55249010	7	5	69	1	0	1	1	0	0	0	0	0	4967	1174	41	0	2650	0	EGFR	7	55249010	In_Frame_Ins	INS	-	TCGA-06-0879-01A-01W-0424-08		55249010	103889653	35	4514											
KEL	3792	broad.mit.edu	37	7	142649600	142649600	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr7:142649600G>T	uc003wcb.3	-	9	1409	c.1199C>A	c.(1198-1200)cCc>cAc	p.P400H		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	400					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.P399S(1)|p.P399Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCTCACCATGGGTGGTTGCTC	0.552													T	142649600	G	T	142649600	3	4	69	1	0	0	0	0	1	0	0	0	8142	1232	43	5	1039	5	KEL	7	142649600	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	87400590	142649600	16489063	36	4515											
ABP1	26	broad.mit.edu	37	7	150558187	150558187	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr7:150558187G>A	uc003why.1	+	5	6364	c.2146G>A	c.(2146-2148)Gtg>Atg	p.V716M	ABP1_uc003whz.1_Missense_Mutation_p.V716M|ABP1_uc003wia.1_Missense_Mutation_p.V735M	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	716					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACTGTGATCGTGTGGCCTCG	0.602													A	150558187	G	A	150558187	3	1	69	1	0	0	0	0	1	0	0	0	98	1145	40	1	2160	1	ABP1	7	150558187	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	7908587	150558187	8580476	37	4516											
DOCK5	80005	broad.mit.edu	37	8	25225732	25225732	+	Silent	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr8:25225732C>T	uc003xeg.3	+	31	3386	c.3249C>T	c.(3247-3249)atC>atT	p.I1083I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.3_Silent_p.I653I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1083						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAAGGAAATCGGCTTTAGAA	0.413													T	25225732	C	T	25225732	2	4	69	1	0	0	0	0	0	0	0	1	4690	874	31	2		2	DOCK5	8	25225732	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08		25225732	121138290	38	4517											
CALML5	51806	broad.mit.edu	37	10	5541186	5541186	+	Silent	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr10:5541186C>T	uc001iic.2	-	0	348	c.216G>A	c.(214-216)gcG>gcA	p.A72A		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	72	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CCTTCTTCGCCGCCGTCAGGA	0.662													T	5541186	C	T	5541186	2	4	69	1	0	0	0	0	0	0	0	1	2589	639	23	2		2	CALML5	10	5541186	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08		5541186	129993561	39	4518											
SORCS3	22986	broad.mit.edu	37	10	106899184	106899184	+	Silent	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr10:106899184C>T	uc001kyi.1	+	7	1469	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	414						integral to membrane	neuropeptide receptor activity			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)		CCAGCTACTACGTGTCTTATC	0.488													T	106899184	C	T	106899184	2	4	69	1	0	0	0	0	0	0	0	1	14932	547	19	1		1	SORCS3	10	106899184	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	101357998	106899184	28635563	40	4519											
MEN1	4221	broad.mit.edu	37	11	64575418	64575418	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr11:64575418C>T	uc001obj.3	-	2	687	c.614G>A	c.(613-615)gGc>gAc	p.G205D	MEN1_uc001obk.3_Missense_Mutation_p.G205D|MEN1_uc001obl.3_Intron|MEN1_uc001obm.3_Missense_Mutation_p.G200D|MEN1_uc001obn.3_Missense_Mutation_p.G205D|MEN1_uc001obo.3_Missense_Mutation_p.G205D|MEN1_uc001obq.3_Missense_Mutation_p.G205D|MEN1_uc001obr.3_Missense_Mutation_p.G205D	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	205					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTTGCCCTTGCCGTGCCAGGT	0.627			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				T	64575418	C	T	64575418	3	4	69	1	0	0	0	0	1	0	0	0	9472	739	26	3	1265	3	MEN1	11	64575418	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		64575418	70431098	41	4520											
CCDC81	60494	broad.mit.edu	37	11	86123501	86123501	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr11:86123501A>G	uc001pbx.2	+	10	1719	c.1291A>G	c.(1291-1293)Agt>Ggt	p.S431G	CCDC81_uc001pbw.2_Missense_Mutation_p.S341G|CCDC81_uc010rtq.2_Missense_Mutation_p.S214G|CCDC81_uc001pby.2_Missense_Mutation_p.S166G	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	431								p.E430*(1)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATATTCCCGGAGTCTCCTGAA	0.418													G	86123501	A	G	86123501	3	3	69	1	0	0	0	0	1	0	0	0	2855	304	11	4	1333	4	CCDC81	11	86123501	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	21548083	86123501	48883015	42	4521											
GLI1	2735	broad.mit.edu	37	12	57863263	57863263	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:57863263C>T	uc001snx.3	+	10	1452	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	GLI1_uc021qzi.1_Missense_Mutation_p.S412F|GLI1_uc009zpq.3_Missense_Mutation_p.S325F	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	453					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTGACCACTCCCCGGCAGGG	0.602													T	57863263	C	T	57863263	3	4	69	1	0	0	0	0	1	0	0	0	6437	855	30	3	1396	3	GLI1	12	57863263	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		57863263	75988632	43	4522											
CAND1	55832	broad.mit.edu	37	12	67691247	67691247	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:67691247G>T	uc001stn.2	+	4	989	c.552G>T	c.(550-552)ttG>ttT	p.L184F	CAND1_uc001sto.2_5'Flank	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	184					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTCCCCAGTTGACCAGCCCTA	0.368													T	67691247	G	T	67691247	3	4	69	1	0	0	0	0	1	0	0	0	2615	1281	45	5	570	5	CAND1	12	67691247	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	9827984	67691247	66160648	44	4523											
MGAT4C	25834	broad.mit.edu	37	12	86374059	86374059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:86374059G>A	uc010sum.2	-	5	676	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	MGAT4C_uc001tal.4_Missense_Mutation_p.R149C|MGAT4C_uc001taj.4_Missense_Mutation_p.R149C|MGAT4C_uc001tak.4_Missense_Mutation_p.R149C|MGAT4C_uc001tai.4_Missense_Mutation_p.R149C|MGAT4C_uc001tah.4_Missense_Mutation_p.R149C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATGGCATCACGCCAGGAAGAA	0.398													A	86374059	G	A	86374059	3	1	69	1	0	0	0	0	1	0	0	0	9547	1087	38	1	995	1	MGAT4C	12	86374059	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	18682812	86374059	47477836	45	4524											
C12orf63	374467	broad.mit.edu	37	12	97087577	97087577	+	Silent	SNP	A	A	G			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:97087577A>G	uc021rcc.1	+	11	1695	c.1617A>G	c.(1615-1617)agA>agG	p.R539R				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	539										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TAGAAGCAAGAATCCTCAAGG	0.308													G	97087577	A	G	97087577	2	3	69	1	0	0	0	0	0	0	0	1	1706	243	9	4		4	C12orf63	12	97087577	Silent	SNP	A	TCGA-06-0879-01A-01W-0424-08	10713518	97087577	36764318	46	4525											
RIMBP2	23504	broad.mit.edu	37	12	130926697	130926697	+	Silent	SNP	C	C	T	rs149109982		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:130926697C>T	uc001uil.2	-	7	1365	c.1149G>A	c.(1147-1149)acG>acA	p.T383T	RIMBP2_uc001uim.3_Silent_p.T291T	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	383						cell junction|synapse		p.T383M(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCACCAGCAGCGTGCACTGCA	0.637													T	130926697	C	T	130926697	2	4	69	1	0	0	0	0	0	0	0	1	13363	755	27	1		1	RIMBP2	12	130926697	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	33839120	130926697	2925198	47	4526											
MTUS2	23281	broad.mit.edu	37	13	29600822	29600822	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:29600822G>T	uc001usl.4	+	0	2075	c.2017G>T	c.(2017-2019)Gtt>Ttt	p.V673F		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	663	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGCCTCGCTGGTTCCAGTGGG	0.587													T	29600822	G	T	29600822	3	4	69	1	0	0	0	0	1	0	0	0	9966	1261	44	5	2019	5	MTUS2	13	29600822	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		29600822	85569056	48	4527											
BRCA2	675	broad.mit.edu	37	13	32911000	32911000	+	Silent	SNP	T	T	C			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:32911000T>C	uc001uub.1	+	10	2735	c.2508T>C	c.(2506-2508)ccT>ccC	p.P836P		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	836	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGCCACCTGAAAAATACA	0.308			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			C	32911000	T	C	32911000	2	2	69	1	0	0	0	0	0	0	0	1	1499	1567	55	4		4	BRCA2	13	32911000	Silent	SNP	T	TCGA-06-0879-01A-01W-0424-08	3310178	32911000	82258878	49	4528											
ARL11	115761	broad.mit.edu	37	13	50204952	50204952	+	Silent	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:50204952G>A	uc001vdf.2	+	1	704	c.369G>A	c.(367-369)aaG>aaA	p.K123K	ARL11_uc021rjo.1_Silent_p.K123K	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.	123					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TGGCCAACAAGCAGGAGGCAC	0.602													A	50204952	G	A	50204952	2	1	69	1	0	0	0	0	0	0	0	1	927	962	34	3		3	ARL11	13	50204952	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08	17293952	50204952	64964926	50	4529											
PROZ	8858	broad.mit.edu	37	13	113812987	113812987	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:113812987G>A	uc001vta.1	+	0	20	c.13G>A	c.(13-15)Gtc>Atc	p.V5I	PROZ_uc010agr.1_Missense_Mutation_p.V5I	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	5					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGCAGGCTGCGTCCCACTGCT	0.657													A	113812987	G	A	113812987	3	1	69	1	0	0	0	0	1	0	0	0	12562	1145	40	1	15	1	PROZ	13	113812987	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	63608035	113812987	1356891	51	4530											
PPP4R4	57718	broad.mit.edu	37	14	94703972	94703972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr14:94703972C>T	uc001ycs.1	+	7	956	c.802C>T	c.(802-804)Cga>Tga	p.R268*		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	268						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAGCAGTGTACGACTTGCAGC	0.358													T	94703972	C	T	94703972	4	4	69	1	0	0	0	0	0	1	0	0	12405	528	19	1	905	1	PPP4R4	14	94703972	Nonsense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		94703972	12645568	52	4531											
AQR	9716	broad.mit.edu	37	15	35166951	35166951	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr15:35166951A>G	uc001ziv.3	-	28	3533	c.3352T>C	c.(3352-3354)Tct>Cct	p.S1118P		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1118						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTGAAGAGAGACTGCTCCATG	0.428													G	35166951	A	G	35166951	3	3	69	1	0	0	0	0	1	0	0	0	835	275	10	4	1133	4	AQR	15	35166951	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08		35166951	67364441	53	4532											
KIAA1024	23251	broad.mit.edu	37	15	79750063	79750063	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr15:79750063T>C	uc002bew.1	+	1	1649	c.1574T>C	c.(1573-1575)cTt>cCt	p.L525P	KIAA1024_uc010unk.1_Missense_Mutation_p.L525P	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	525						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TTCCGATTTCTTGATGACATG	0.502													C	79750063	T	C	79750063	3	2	69	1	0	0	0	0	1	0	0	0	8205	1609	56	4	1576	4	KIAA1024	15	79750063	Missense_Mutation	SNP	T	TCGA-06-0879-01A-01W-0424-08	44583112	79750063	22781329	54	4533											
SLC7A5	8140	broad.mit.edu	37	16	87873313	87873313	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr16:87873313C>A	uc002fkm.3	-	4	1006	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	312					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CTCACCACGGCCACGGCCTCG	0.652													A	87873313	C	A	87873313	3	1	69	1	0	0	0	0	1	0	0	0	14700	739	26	5	613	5	SLC7A5	16	87873313	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		87873313	2481440	55	4534											
PLSCR3	57048	broad.mit.edu	37	17	7296587	7296587	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr17:7296587C>T	uc002ggn.2	-	4	907	c.383G>A	c.(382-384)cGt>cAt	p.R128H	PLSCR3_uc002ggo.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggm.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggp.2_Intron|PLSCR3_uc002ggq.2_Intron|PLSCR3_uc010cmg.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggr.2_Missense_Mutation_p.R128H	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN	Homo sapiens phospholipid scramblase 3 (PLSCR3), transcript variant 1, mRNA.	128					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				ACAGCACAGACGGGCGCAGCA	0.716													T	7296587	C	T	7296587	3	4	69	1	0	0	0	0	1	0	0	0	12111	536	19	1	520	1	PLSCR3	17	7296587	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		7296587	73898623	56	4535											
KRT15	3866	broad.mit.edu	37	17	39673161	39673161	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr17:39673161G>A	uc002hwy.3	-	2	828	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	KRT15_uc002hwz.3_Missense_Mutation_p.R115C|KRT15_uc002hxa.3_Missense_Mutation_p.R48C|KRT15_uc002hxb.1_Missense_Mutation_p.R48C	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	213	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AGGACTCGGCGCAAGCCGTTG	0.592													A	39673161	G	A	39673161	3	1	69	1	0	0	0	0	1	0	0	0	8452	1087	38	1	757	1	KRT15	17	39673161	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	32376574	39673161	41522049	57	4536											
PITPNC1	26207	broad.mit.edu	37	17	65528973	65528973	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr17:65528973G>A	uc002jgc.3	+	1	451	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	PITPNC1_uc002jgb.3_Missense_Mutation_p.R35Q	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.	35					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CAGAGTGACCGGGGAGAAGGG	0.532													A	65528973	G	A	65528973	3	1	69	1	0	0	0	0	1	0	0	0	11949	1116	39	2	110	2	PITPNC1	17	65528973	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	25855812	65528973	15666237	58	4537											
ELAVL1	1994	broad.mit.edu	37	19	8028639	8028639	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:8028639G>A	uc002mjb.3	-	5	876	c.709C>T	c.(709-711)Cca>Tca	p.P237S		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.	237					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCGTTTCCTGGCACGTTGACG	0.632													A	8028639	G	A	8028639	3	1	69	1	0	0	0	0	1	0	0	0	5049	1203	42	3	275	3	ELAVL1	19	8028639	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		8028639	51100344	59	4538											
PDE4A	5141	broad.mit.edu	37	19	10574494	10574494	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:10574494C>T	uc002moj.2	+	13	1877	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V	PDE4A_uc021uow.1_Missense_Mutation_p.A568V|PDE4A_uc002mok.2_Missense_Mutation_p.A564V|PDE4A_uc002mol.2_Missense_Mutation_p.A529V|PDE4A_uc002mom.2_Missense_Mutation_p.A351V|PDE4A_uc002moo.2_Missense_Mutation_p.A256V	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	590	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GTGCACTGTGCCGACCTCAGC	0.617													T	10574494	C	T	10574494	3	4	69	1	0	0	0	0	1	0	0	0	11639	739	26	3	2280	3	PDE4A	19	10574494	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	2545855	10574494	48554489	60	4539											
ZNF91	7644	broad.mit.edu	37	19	23542219	23542219	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:23542219G>A	uc002nre.3	-	3	3675	c.3562C>T	c.(3562-3564)Ccc>Tcc	p.P1188S	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P1156S	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	1188						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				tagagaaggggtttcactgtg	0.537													A	23542219	G	A	23542219	3	1	69	1	0	0	0	0	1	0	0	0	18197	1261	44	3	17	3	ZNF91	19	23542219	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	12967725	23542219	35586764	61	4540											
CYP2A13	1553	broad.mit.edu	37	19	41597726	41597726	+	Silent	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:41597726C>T	uc002opt.3	+	4	753	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	248					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGGACTTCATCGCCAAGAAGG	0.557													T	41597726	C	T	41597726	2	4	69	1	0	0	0	0	0	0	0	1	4161	874	31	2		2	CYP2A13	19	41597726	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	18055507	41597726	17531257	62	4541											
PPP1R12C	54776	broad.mit.edu	37	19	55624065	55624065	+	Silent	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:55624065C>T	uc002qix.3	-	1	436	c.420G>A	c.(418-420)gtG>gtA	p.V140V	PPP1R12C_uc010yfs.2_Silent_p.V66V|PPP1R12C_uc002qiy.3_Silent_p.V140V	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	140						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		AGGAGGCGGCCACGTGCAGTG	0.667													T	55624065	C	T	55624065	2	4	69	1	0	0	0	0	0	0	0	1	12356	581	21	3		3	PPP1R12C	19	55624065	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	14026339	55624065	3504918	63	4542											
PREX1	57580	broad.mit.edu	37	20	47309262	47309262	+	Silent	SNP	C	C	T			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr20:47309262C>T	uc002xtw.1	-	7	1007	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	328	PH.				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			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)			TGATTCGACCCCTGAAGATGT	0.572													T	47309262	C	T	47309262	2	4	69	1	0	0	0	0	0	0	0	1	12476	622	22	3		3	PREX1	20	47309262	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08		47309262	15716258	64	4543											
TPTE	7179	broad.mit.edu	37	21	10906987	10906987	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr21:10906987C>A	uc002yip.1	-	23	1942	c.1574G>T	c.(1573-1575)aGa>aTa	p.R525I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R507I|TPTE_uc002yir.1_Missense_Mutation_p.R487I|TPTE_uc010gkv.1_Missense_Mutation_p.R387I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	525	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T524I(1)|p.T524S(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)		TGGATAAATTCTCCGTGCTTT	0.358													A	10906987	C	A	10906987	3	1	69	1	0	0	0	0	1	0	0	0	16427	913	32	5	85	5	TPTE	21	10906987	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		10906987	37222908	65	4544											
B3GALT5	10317	broad.mit.edu	37	21	41033203	41033203	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr21:41033203T>G	uc021wjj.1	+	0	717	c.717T>G	c.(715-717)atT>atG	p.I239M	B3GALT5_uc002yyb.1_Missense_Mutation_p.I239M|B3GALT5_uc002yye.2_Missense_Mutation_p.I239M|B3GALT5_uc002yyi.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyj.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyk.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyl.1_Missense_Mutation_p.I239M|B3GALT5_uc002yym.1_Missense_Mutation_p.I239M	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	239					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCCCATACATTAAACTGGAAG	0.562													G	41033203	T	G	41033203	3	3	69	1	0	0	0	0	1	0	0	0	1250	1742	61	5	719	5	B3GALT5	21	41033203	Missense_Mutation	SNP	T	TCGA-06-0879-01A-01W-0424-08	30126216	41033203	7096692	66	4545											
SLC35E4	339665	broad.mit.edu	37	22	31032455	31032455	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr22:31032455delG	uc003ais.1	+	0	663	c.18delG	c.(16-18)ccgfs	p.P6fs	SLC35E4_uc003ait.3_5'UTR	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	6						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTGCCCGCCGGAGCACCATG	0.701													-	31032455	G	-	31032455	7	5	69	1	0	1	0	1	0	0	0	0	14587	1103	39	0	20	0	SLC35E4	22	31032455	Frame_Shift_Del	DEL	G	TCGA-06-0879-01A-01W-0424-08		31032455	20272111	67	4546											
GTSE1	51512	broad.mit.edu	37	22	46708130	46708130	+	Silent	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr22:46708130G>A	uc011aqy.2	+	4	1067	c.855G>A	c.(853-855)ccG>ccA	p.P285P	GTSE1_uc011aqz.2_Silent_p.P132P	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	266					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AACCTGCCCCGGGTGCTGTCA	0.577													A	46708130	G	A	46708130	2	1	69	1	0	0	0	0	0	0	0	1	6885	1103	39	2		2	GTSE1	22	46708130	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08	15675675	46708130	4596436	68	4547											
AFF2	2334	broad.mit.edu	37	X	148072810	148072810	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chrX:148072810G>A	uc004fcp.3	+	20	4363	c.3884G>A	c.(3883-3885)cGc>cAc	p.R1295H	AFF2_uc004fcq.3_Missense_Mutation_p.R1285H|AFF2_uc004fcr.3_Missense_Mutation_p.R1256H|AFF2_uc011mxb.2_Missense_Mutation_p.R1260H|AFF2_uc004fcs.3_Missense_Mutation_p.R1260H|AFF2_uc011mxc.2_Missense_Mutation_p.R936H	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1295					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.V1294D(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTTGTCCGCTACGTTCGC	0.527													A	148072810	G	A	148072810	3	1	69	1	0	0	0	0	1	0	0	0	357	1087	38	1	4021	1	AFF2	23	148072810	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		148072810	7197750	69	4548											
EXTL1	2134	broad.mit.edu	37	1	26360290	26360290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:26360290C>T	uc001blf.3	+	8	2489	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	541					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCTACACTGCTGAGAGG	0.577													T	26360290	C	T	26360290	3	4	70	1	0	0	0	0	1	0	0	0	5325	565	20	3	1656	3	EXTL1	1	26360290	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		26360290	222890331	1	4549											
COL24A1	255631	broad.mit.edu	37	1	86590905	86590905	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:86590905T>G	uc001dlj.3	-	2	1189	c.1114A>C	c.(1114-1116)Aac>Cac	p.N372H	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.N372H	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	372					cell adhesion	collagen	extracellular matrix structural constituent			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)		TCAGACATGTTTAGGAGAGAG	0.378													G	86590905	T	G	86590905	3	3	70	1	0	0	0	0	1	0	0	0	3683	1841	64	5	4262	5	COL24A1	1	86590905	Missense_Mutation	SNP	T	TCGA-06-0881-01A-02W-0424-08	60230615	86590905	162659716	2	4550											
OR2G2	81470	broad.mit.edu	37	1	247751819	247751819	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:247751819G>A	uc010pyy.2	+	0	158	c.158G>A	c.(157-159)cGt>cAt	p.R53H		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			CTGGTTTCTCGTCTGGAACCC	0.418													A	247751819	G	A	247751819	3	1	70	1	0	0	0	0	1	0	0	0	10998	1145	40	1	160	1	OR2G2	1	247751819	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	161160914	247751819	1498802	3	4551											
SCN9A	6335	broad.mit.edu	37	2	167141062	167141062	+	Silent	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:167141062G>A	uc010fpl.3	-	11	2216	c.1875C>T	c.(1873-1875)aaC>aaT	p.N625N	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.N496N|SCN9A_uc002uds.1_Silent_p.N496N|SCN9A_uc002udt.1_Silent_p.N496N	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	625						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.N625N(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGACCACACCGTTGCAGTCCA	0.562													A	167141062	G	A	167141062	2	1	70	1	0	0	0	0	0	0	0	1	13925	1136	40	1		1	SCN9A	2	167141062	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08		167141062	76058311	4	4552											
TTN	7273	broad.mit.edu	37	2	179438641	179438641	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179438641G>C	uc021vsy.1	-	274	64739	c.64514C>G	c.(64513-64515)aCa>aGa	p.T21505R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15200R|TTN_uc021vta.1_Missense_Mutation_p.T15133R|TTN_uc021vtb.1_Missense_Mutation_p.T15008R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22432	Fibronectin type-III 56.						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)			TAACTTTGCTGTGCCTTCCAG	0.413													C	179438641	G	C	179438641	3	2	70	1	0	0	0	0	1	0	0	0	16732	1377	48	5	35909	5	TTN	2	179438641	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	12297579	179438641	63760732	5	4553											
TTN	7273	broad.mit.edu	37	2	179615121	179615121	+	Silent	SNP	A	A	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179615121A>G	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_5'Flank|TTN_uc002unb.2_Silent_p.T4002T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			CAGATGAAAGAGTTAATATTG	0.333													G	179615121	A	G	179615121	2	3	70	1	0	0	0	0	0	0	0	1	16732	291	11	4		4	TTN	2	179615121	Silent	SNP	A	TCGA-06-0881-01A-02W-0424-08	176480	179615121	63584252	6	4554											
TTN	7273	broad.mit.edu	37	2	179647637	179647637	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179647637C>T	uc021vsy.1	-	17	3221	c.2996G>A	c.(2995-2997)cGt>cAt	p.R999H	TTN_uc021vsz.1_Missense_Mutation_p.R953H|TTN_uc021vta.1_Missense_Mutation_p.R953H|TTN_uc021vtb.1_Missense_Mutation_p.R953H|TTN_uc002unb.2_Missense_Mutation_p.R999H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	999	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A998D(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)			AATCATAAGACGAGCAATTCC	0.493													T	179647637	C	T	179647637	3	4	70	1	0	0	0	0	1	0	0	0	16732	536	19	1	108372	1	TTN	2	179647637	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	32516	179647637	63551736	7	4555											
COL6A3	1293	broad.mit.edu	37	2	238245018	238245018	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:238245018C>T	uc002vwl.2	-	39	9010	c.8725G>A	c.(8725-8727)Gct>Act	p.A2909T	COL6A3_uc002vwo.2_Missense_Mutation_p.A2703T|COL6A3_uc010znj.1_Missense_Mutation_p.A2302T|COL6A3_uc002vwj.2_Missense_Mutation_p.A290T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2909	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		GGCTTTGCAGCGGCTGGCTTC	0.582													T	238245018	C	T	238245018	3	4	70	1	0	0	0	0	1	0	0	0	3701	768	27	1	828	1	COL6A3	2	238245018	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	58597381	238245018	4954355	8	4556											
DAG1	1605	broad.mit.edu	37	3	49570453	49570453	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr3:49570453C>T	uc021wxz.1	+	2	2978	c.2509C>T	c.(2509-2511)Ccc>Tcc	p.P837S	DAG1_uc021wya.1_Missense_Mutation_p.P837S|DAG1_uc021wyb.1_Missense_Mutation_p.P837S|DAG1_uc021wyc.1_Missense_Mutation_p.P837S|DAG1_uc021wyd.1_Missense_Mutation_p.P837S|DAG1_uc021wye.1_Missense_Mutation_p.P837S|DAG1_uc021wyf.1_Missense_Mutation_p.P837S|DAG1_uc021wyg.1_Missense_Mutation_p.P837S|DAG1_uc021wyh.1_Missense_Mutation_p.P837S|DAG1_uc021wyi.1_Missense_Mutation_p.P837S|DAG1_uc021wyj.1_Missense_Mutation_p.P837S|DAG1_uc021wyk.1_Missense_Mutation_p.P837S|DAG1_uc003cxc.4_Missense_Mutation_p.P837S	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	837	Pro-rich.|Required for interaction with CAV3.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGAGTGTGCCCGAGACCAC	0.637													T	49570453	C	T	49570453	3	4	70	1	0	0	0	0	1	0	0	0	4225	739	26	3	2515	3	DAG1	3	49570453	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		49570453	148451977	9	4557											
ANKRD17	26057	broad.mit.edu	37	4	73962983	73962983	+	Silent	SNP	T	T	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr4:73962983T>G	uc003hgp.3	-	26	5145	c.5028A>C	c.(5026-5028)tcA>tcC	p.S1676S	ANKRD17_uc003hgo.3_Silent_p.S1563S|ANKRD17_uc003hgq.3_Silent_p.S1425S|ANKRD17_uc003hgr.3_Silent_p.S1675S	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1676	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.L1675L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATAGTTTCTGACAATCTTT	0.333													G	73962983	T	G	73962983	2	3	70	1	0	0	0	0	0	0	0	1	646	1567	55	5		5	ANKRD17	4	73962983	Silent	SNP	T	TCGA-06-0881-01A-02W-0424-08		73962983	117191293	10	4558											
FGA	2243	broad.mit.edu	37	4	155506815	155506815	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr4:155506815T>C	uc003iod.1	-	4	1824	c.1766A>G	c.(1765-1767)tAc>tGc	p.Y589C	FGA_uc003ioe.1_Missense_Mutation_p.Y589C|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	589					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCTCTGTTGTAACTCGTGCT	0.443													C	155506815	T	C	155506815	3	2	70	1	0	0	0	0	1	0	0	0	5830	1638	57	4	886	4	FGA	4	155506815	Missense_Mutation	SNP	T	TCGA-06-0881-01A-02W-0424-08	81543832	155506815	35647461	11	4559											
CDH18	1016	broad.mit.edu	37	5	19520824	19520825	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:19520824_19520825GG>AC	uc003jgd.3	-	9	1987_1988	c.1453_1454CC>GT	c.(1453-1455)cca>GTa	p.P485V	CDH18_uc011cnm.2_Missense_Mutation_p.P485V|CDH18_uc003jgc.3_Missense_Mutation_p.P485V|CDH18_uc021xwu.1_Missense_Mutation_p.P485V	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	485	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAGTTCGGGTGGATTGTCATTG	0.381													AC	19520825	GG	AC	19520824	3	1	70	1	0	0	0	0	1	0	0	0	3103	1348	47	3	934	3	CDH18	5	19520824	Missense_Mutation	DNP	GG	TCGA-06-0881-01A-02W-0424-08		19520824	161394436	12	4560											
PCDHB16	57717	broad.mit.edu	37	5	140563145	140563145	+	Silent	SNP	G	G	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:140563145G>T	uc003liv.3	+	0	2166	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	337	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGCAGGTGGTGGACGTGA	0.502													T	140563145	G	T	140563145	2	4	70	1	0	0	0	0	0	0	0	1	11541	1335	47	5		5	PCDHB16	5	140563145	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08	121042321	140563145	40352115	13	4561											
PCDHGC5	56113	broad.mit.edu	37	5	140720392	140720392	+	Silent	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:140720392G>A	uc003ljk.2	+	0	2039	c.1854G>A	c.(1852-1854)tcG>tcA	p.S618S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.S618S	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	620	Cadherin 6.				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)			GACTCTTCTCGGTGGGTCTGC	0.677													A	140720392	G	A	140720392	2	1	70	1	0	0	0	0	0	0	0	1	11571	1103	39	2		2	PCDHGC5	5	140720392	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08	157247	140720392	40194868	14	4562											
TUBB	203068	broad.mit.edu	37	6	30690337	30690337	+	Silent	SNP	A	A	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:30690337A>G	uc003nrl.3	+	1	208	c.81A>G	c.(79-81)gaA>gaG	p.E27E	TUBB_uc011dmq.2_5'UTR	NM_178014	NP_821133	P07437	TBB5_HUMAN	Homo sapiens tubulin, beta class I (TUBB), mRNA.	27					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCAGTGATGAACATGGCATCG	0.562													G	30690337	A	G	30690337	2	3	70	1	0	0	0	0	0	0	0	1	16749	40	2	4		4	TUBB	6	30690337	Silent	SNP	A	TCGA-06-0881-01A-02W-0424-08		30690337	140424730	15	4563											
DPCR1	135656	broad.mit.edu	37	6	30919762	30919762	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:30919762C>T	uc003nsg.2	+	1	3521	c.3521C>T	c.(3520-3522)aCg>aTg	p.T1174M		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	305						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAAGACCACGTCAACCACA	0.468													T	30919762	C	T	30919762	3	4	70	1	0	0	0	0	1	0	0	0	4712	536	19	1	3527	1	DPCR1	6	30919762	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	229425	30919762	140195305	16	4564											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	70	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		55221822	103916841	17	4565											
RSBN1L	222194	broad.mit.edu	37	7	77378833	77378833	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:77378833C>T	uc010ldt.1	+	2	840	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	266	Lys-rich.					nucleus		p.R266L(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAATGAAAAACGGAAGCGTCC	0.353													T	77378833	C	T	77378833	3	4	70	1	0	0	0	0	1	0	0	0	13697	527	19	1	806	1	RSBN1L	7	77378833	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	22157011	77378833	81759830	18	4566											
SEMA3E	9723	broad.mit.edu	37	7	82997239	82997239	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:82997239G>A	uc003uhy.2	-	16	2612	c.1991C>T	c.(1990-1992)aCg>aTg	p.T664M	SEMA3E_uc022agy.1_Missense_Mutation_p.T604M	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	664	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTACGGACCGTATGGACAAA	0.458													A	82997239	G	A	82997239	3	1	70	1	0	0	0	0	1	0	0	0	14028	1145	40	1	340	1	SEMA3E	7	82997239	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	5618406	82997239	76141424	19	4567											
MYOM2	9172	broad.mit.edu	37	8	2040299	2040299	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:2040299G>A	uc003wpx.4	+	15	2092	c.1954G>A	c.(1954-1956)Gga>Aga	p.G652R	MYOM2_uc011kwi.2_Missense_Mutation_p.G77R	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	652	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGTGTGGCCGGAACCAACCT	0.607													A	2040299	G	A	2040299	3	1	70	1	0	0	0	0	1	0	0	0	10092	1117	39	2	2012	2	MYOM2	8	2040299	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08		2040299	144323723	20	4568											
CSMD1	64478	broad.mit.edu	37	8	2855644	2855644	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:2855644G>C	uc022aqr.1	-	53	8656	c.8266C>G	c.(8266-8268)Ctg>Gtg	p.L2756V	CSMD1_uc011kwj.2_Missense_Mutation_p.L2086V|CSMD1_uc010lrg.3_Missense_Mutation_p.L767V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2757	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACATCATTCAGGTTGAACTCA	0.527													C	2855644	G	C	2855644	3	2	70	1	0	0	0	0	1	0	0	0	3944	991	35	5	2496	5	CSMD1	8	2855644	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	815345	2855644	143508378	21	4569											
CDH17	1015	broad.mit.edu	37	8	95188833	95188833	+	Silent	SNP	G	G	A	rs148638200	byFrequency	TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:95188833G>A	uc003ygh.2	-	4	485	c.360C>T	c.(358-360)aaC>aaT	p.N120N	CDH17_uc011lgo.1_Silent_p.N120N|CDH17_uc011lgp.1_Silent_p.N120N	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	120	Cadherin 1.					integral to membrane	calcium ion binding			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)			GTCGATTGTCGTTGATGTCCT	0.483													A	95188833	G	A	95188833	2	1	70	1	0	0	0	0	0	0	0	1	3102	1136	40	1		1	CDH17	8	95188833	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08	92333189	95188833	51175189	22	4570											
FAM75C1	441452	broad.mit.edu	37	9	90536517	90536517	+	Silent	SNP	A	A	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr9:90536517A>T	uc010mqi.3	+	3	1724	c.1695A>T	c.(1693-1695)tcA>tcT	p.S565S	FAM75C1_uc004apq.4_Silent_p.S548S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GGAGTGACTCAGGAAGTGATT	0.507													T	90536517	A	T	90536517	2	4	70	1	0	0	0	0	0	0	0	1	5623	175	7	5		5	FAM75C1	9	90536517	Silent	SNP	A	TCGA-06-0881-01A-02W-0424-08		90536517	50676914	23	4571											
OR13C4	138804	broad.mit.edu	37	9	107288808	107288808	+	Missense_Mutation	SNP	G	G	A	rs139144967		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr9:107288808G>A	uc011lvn.2	-	0	683	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGCCGAGTTCGTTCGCAAGAT	0.403													A	107288808	G	A	107288808	3	1	70	1	0	0	0	0	1	0	0	0	10936	1145	40	1	275	1	OR13C4	9	107288808	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	16752291	107288808	33924623	24	4572											
PTEN	5728	broad.mit.edu	37	10	89692830	89692830	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr10:89692830G>A	uc001kfb.3	+	4	1346	c.314G>A	c.(313-315)tGt>tAt	p.C105Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C105F(12)|p.C105S(6)|p.?(5)|p.R55fs*1(5)|p.C105Y(4)|p.C105W(4)|p.C105fs*2(2)|p.Y27fs*1(2)|p.C105fs*1(2)|p.Y27_N212>Y(2)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACCCTTTTGTGAAGATCTT	0.373		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692830	G	A	89692830	3	1	70	1	0	0	0	0	1	0	0	0	12738	1377	48	3	332	3	PTEN	10	89692830	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08		89692830	45841917	25	4573											
DNAH3	55567	broad.mit.edu	37	16	20994175	20994175	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr16:20994175C>T	uc010vbe.2	-	48	7727	c.7727G>A	c.(7726-7728)cGc>cAc	p.R2576H	DNAH3_uc010vbd.2_Missense_Mutation_p.R11H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2576	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2576H(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATCCGCAGGCGGTTCCTGAA	0.507													T	20994175	C	T	20994175	3	4	70	1	0	0	0	0	1	0	0	0	4603	768	27	1	4678	1	DNAH3	16	20994175	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		20994175	69360578	26	4574											
CDH8	1006	broad.mit.edu	37	16	61687974	61687974	+	Silent	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr16:61687974C>T	uc002eog.2	-	11	2893	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	646					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTATGCCGCCGTAGAG	0.388													T	61687974	C	T	61687974	2	4	70	1	0	0	0	0	0	0	0	1	3116	726	26	3		3	CDH8	16	61687974	Silent	SNP	C	TCGA-06-0881-01A-02W-0424-08	40693799	61687974	28666779	27	4575											
FXR2	9513	broad.mit.edu	37	17	7507356	7507357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:7507356_7507357insC	uc002gia.2	-	3	635_636	c.270_271insG	c.(268-273)tggctgfs	p.W90fs		NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	90						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCCGGGCCAGCCACCAGCCAC	0.441													C	7507357	-	C	7507356	7	5	70	1	0	1	1	0	0	0	0	0	6116	962	34	0	1706	0	FXR2	17	7507356	Frame_Shift_Ins	INS	-	TCGA-06-0881-01A-02W-0424-08		7507356	73687854	28	4576											
MYH3	4621	broad.mit.edu	37	17	10537429	10537429	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:10537429C>T	uc002gmq.2	-	31	4515	c.4427G>A	c.(4426-4428)cGc>cAc	p.R1476H		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1476					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTCAAGGAGCGGGACTCCTT	0.493													T	10537429	C	T	10537429	3	4	70	1	0	0	0	0	1	0	0	0	10036	768	27	1	1435	1	MYH3	17	10537429	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	3030073	10537429	70657781	29	4577											
CCDC47	57003	broad.mit.edu	37	17	61830101	61830101	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:61830101C>T	uc002jbs.4	-	10	1429	c.1093_splice	c.e10+1	p.V365_splice	CCDC47_uc010ddx.3_Splice_Site_p.V365_splice|CCDC47_uc002jbt.2_Splice_Site_p.V365_splice	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	365						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GAATACTTACCATTAAATGTA	0.373											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	T	61830101	C	T	61830101	3	4	70	1	0	0	0	0	1	0	0	0	2818	608	21	3	374	3	CCDC47	17	61830101	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	51292672	61830101	19365109	30	4578											
FCGBP	8857	broad.mit.edu	37	19	40376323	40376323	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:40376323A>G	uc002omp.4	-	24	11989	c.11981T>C	c.(11980-11982)gTc>gCc	p.V3994A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3994	Cys-rich.					extracellular region	protein binding	p.V3994A(6)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCATAGTAGACACCATTGTG	0.562													G	40376323	A	G	40376323	3	3	70	1	0	0	0	0	1	0	0	0	5778	275	10	4	4284	4	FCGBP	19	40376323	Missense_Mutation	SNP	A	TCGA-06-0881-01A-02W-0424-08		40376323	18752660	31	4579											
SIGLEC8	27181	broad.mit.edu	37	19	51960862	51960862	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:51960862C>T	uc002pwt.3	-	1	653	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	196	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGGAGGACACGGAGGCCCCA	0.657													T	51960862	C	T	51960862	3	4	70	1	0	0	0	0	1	0	0	0	14314	536	19	1	937	1	SIGLEC8	19	51960862	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	11584539	51960862	7168121	32	4580											
NLRP8	126205	broad.mit.edu	37	19	56459235	56459235	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:56459235G>A	uc002qmh.3	+	0					NLRP8_uc010etg.3_5'UTR	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.							cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGTCTTTATCGTGGACACTGA	0.448													A	56459235	G	A	56459235	1	1	70	1	0	0	0	0	0	0	0	0	10483	1160	40	1		1	NLRP8	19	56459235	Translation_Start_Site	SNP	G	TCGA-06-0881-01A-02W-0424-08	4498373	56459235	2669748	33	4581											
C1orf177	163747	broad.mit.edu	37	1	55280638	55280638	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:55280638G>A	uc001cyb.4	+	7	1030	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	C1orf177_uc001cya.4_Missense_Mutation_p.V326I	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	326								p.P325P(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATGCAAACCCGTCAACCAGCC	0.552													A	55280638	G	A	55280638	3	1	71	1	0	0	0	0	1	0	0	0	2017	1145	40	1	1006	1	C1orf177	1	55280638	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08		55280638	193969983	1	4582											
FCRL4	83417	broad.mit.edu	37	1	157551332	157551332	+	Missense_Mutation	SNP	C	C	T	rs150354637		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:157551332C>T	uc001fqw.3	-	6	1374	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	413						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACTTCCTCCGACGCCAGCA	0.602													T	157551332	C	T	157551332	3	4	71	1	0	0	0	0	1	0	0	0	5797	652	23	2	333	2	FCRL4	1	157551332	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	102270694	157551332	91699289	2	4583											
PAPPA2	60676	broad.mit.edu	37	1	176661413	176661413	+	Silent	SNP	T	T	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:176661413T>C	uc001gkz.3	+	5	3747	c.2583T>C	c.(2581-2583)acT>acC	p.T861T	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	861					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGTCCCTCACTATCCACTGGC	0.502													C	176661413	T	C	176661413	2	2	71	1	0	0	0	0	0	0	0	1	11433	1509	53	4		4	PAPPA2	1	176661413	Silent	SNP	T	TCGA-06-0882-01A-01W-0424-08	19110081	176661413	72589208	3	4584											
RAB3GAP2	25782	broad.mit.edu	37	1	220335581	220335581	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:220335581A>C	uc010puk.1	-	27	3348	c.3184T>G	c.(3184-3186)Tta>Gta	p.L1062V	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.L1062V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.L642V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1062					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTTTAACTAAGAACGTATTC	0.284													C	220335581	A	C	220335581	3	2	71	1	0	0	0	0	1	0	0	0	12936	69	3	5	1029	5	RAB3GAP2	1	220335581	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08	43674168	220335581	28915040	4	4585											
OTOF	9381	broad.mit.edu	37	2	26686908	26686908	+	Missense_Mutation	SNP	C	C	T	rs143889717		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:26686908C>T	uc002rhk.3	-	39	5154	c.5027G>A	c.(5026-5028)cGc>cAc	p.R1676H	OTOF_uc010yla.2_Missense_Mutation_p.R406H|OTOF_uc002rhh.3_Missense_Mutation_p.R909H|OTOF_uc002rhi.3_Missense_Mutation_p.R986H|OTOF_uc002rhj.3_Missense_Mutation_p.R909H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1676					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCTGCGCGGGGGATGTC	0.667													T	26686908	C	T	26686908	3	4	71	1	0	0	0	0	1	0	0	0	11303	768	27	1	1179	1	OTOF	2	26686908	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		26686908	216512465	5	4586											
TTN	7273	broad.mit.edu	37	2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:179463526C>T	uc021vsy.1	-	239	49432	c.49207G>A	c.(49207-49209)Gtg>Atg	p.V16403M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10098M|TTN_uc021vta.1_Missense_Mutation_p.V10031M|TTN_uc021vtb.1_Missense_Mutation_p.V9906M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17330	Ig-like 100.						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)			GCTGGACCCACGCCAGCAGCA	0.428													T	179463526	C	T	179463526	3	4	71	1	0	0	0	0	1	0	0	0	16732	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	152776618	179463526	63735847	6	4587											
CPS1	1373	broad.mit.edu	37	2	211469880	211469880	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:211469880G>C	uc010fur.3	+	17	1991	c.1909G>C	c.(1909-1911)Gaa>Caa	p.E637Q	CPS1_uc002vee.4_Missense_Mutation_p.E631Q|CPS1_uc010fus.3_Missense_Mutation_p.E180Q	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	631	ATP-grasp 1.				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			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)		AGGTTGGAAAGAAATAGAATA	0.408													C	211469880	G	C	211469880	3	2	71	1	0	0	0	0	1	0	0	0	3823	943	33	5	1979	5	CPS1	2	211469880	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	32006354	211469880	31729493	7	4588											
COL4A4	1286	broad.mit.edu	37	2	227917071	227917071	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:227917071G>A	uc021vxr.1	-	30	3019	c.2918C>T	c.(2917-2919)aCa>aTa	p.T973I	COL4A4_uc021vxs.1_Missense_Mutation_p.T973I	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	973	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCCCCAGGTGTTCCCTTTTG	0.403													A	227917071	G	A	227917071	3	1	71	1	0	0	0	0	1	0	0	0	3693	1377	48	3	2222	3	COL4A4	2	227917071	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	16447191	227917071	15282302	8	4589											
CNTN6	27255	broad.mit.edu	37	3	1427473	1427473	+	Missense_Mutation	SNP	A	A	G	rs143460057		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:1427473A>G	uc003boz.3	+	19	2963	c.2696A>G	c.(2695-2697)aAa>aGa	p.K899R	CNTN6_uc011asj.2_Missense_Mutation_p.K827R|CNTN6_uc003bpa.3_Missense_Mutation_p.K899R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	899					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTACCACCAAAAAGTCTCGT	0.453													G	1427473	A	G	1427473	3	3	71	1	0	0	0	0	1	0	0	0	3645	14	1	4	2770	4	CNTN6	3	1427473	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08		1427473	196594957	9	4590											
CCR5	1234	broad.mit.edu	37	3	46414783	46414783	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:46414783C>T	uc003cpo.4	+	2	512	c.390C>T	c.(388-390)gtC>gtT	p.V130V	CCR5_uc010hjd.3_Silent_p.V130V|CCR5_uc021wxb.1_Silent_p.V130V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	130					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCTGGCTGTCGTCCATGCTG	0.478													T	46414783	C	T	46414783	2	4	71	1	0	0	0	0	0	0	0	1	2944	871	31	2		2	CCR5	3	46414783	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	44987310	46414783	151607647	10	4591											
STAB1	23166	broad.mit.edu	37	3	52543899	52543899	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:52543899C>T	uc003dej.3	+	22	2435	c.2361C>T	c.(2359-2361)gtC>gtT	p.V787V		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	787					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCGGCTGTGTCCATGGTCTCT	0.632													T	52543899	C	T	52543899	2	4	71	1	0	0	0	0	0	0	0	1	15236	842	30	3		3	STAB1	3	52543899	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	6129116	52543899	145478531	11	4592											
KDR	3791	broad.mit.edu	37	4	55984940	55984940	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr4:55984940C>T	uc003has.3	-	2	491	c.189G>A	c.(187-189)tgG>tgA	p.W63*	KDR_uc003hat.1_Nonsense_Mutation_p.W63*|KDR_uc011bzx.2_Nonsense_Mutation_p.W63*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	63	Ig-like C2-type 1.				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			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)	GATTATTGGGCCAAAGCCAGT	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			T	55984940	C	T	55984940	4	4	71	1	0	0	0	0	0	1	0	0	8139	740	26	3	3993	3	KDR	4	55984940	Nonsense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		55984940	135169336	12	4593											
HELT	391723	broad.mit.edu	37	4	185941817	185941817	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr4:185941817C>T	uc011ckq.2	+	3	875	c.875C>T	c.(874-876)cCc>cTc	p.P292L	HELT_uc011cko.2_Missense_Mutation_p.P207L|HELT_uc003ixa.3_Missense_Mutation_p.P206L|HELT_uc011ckp.1_Missense_Mutation_p.P150L	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	Homo sapiens helt bHLH transcription factor (HELT), mRNA.	292	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAGCACAGCCCCTTCCTGACA	0.736													T	185941817	C	T	185941817	3	4	71	1	0	0	0	0	1	0	0	0	7048	623	22	3	889	3	HELT	4	185941817	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	129956877	185941817	5212459	13	4594											
KDM1B	221656	broad.mit.edu	37	6	18213891	18213891	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:18213891C>A	uc003nco.1	+	11	1454	c.1379C>A	c.(1378-1380)gCc>gAc	p.A460D	KDM1B_uc003ncn.1_Missense_Mutation_p.A431D|KDM1B_uc003ncp.1_Missense_Mutation_p.A16D|KDM1B_uc003ncq.1_Missense_Mutation_p.A16D	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	663					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.G460W(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTGCAGATTGCCTTGCAATTT	0.463													A	18213891	C	A	18213891	3	1	71	1	0	0	0	0	1	0	0	0	8123	739	26	5	1342	5	KDM1B	6	18213891	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		18213891	152901176	14	4595											
VPS52	6293	broad.mit.edu	37	6	33232605	33232605	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:33232605G>A	uc003odm.1	-	12	1564	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	VPS52_uc003odn.1_Missense_Mutation_p.R263W	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	452					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTACGGAACCGGAGAACAATG	0.483													A	33232605	G	A	33232605	3	1	71	1	0	0	0	0	1	0	0	0	17211	1115	39	2	849	2	VPS52	6	33232605	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	15018714	33232605	137882462	15	4596											
TFAP2B	7021	broad.mit.edu	37	6	50810943	50810943	+	Silent	SNP	C	C	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:50810943C>A	uc003pag.3	+	6	1387	c.1221C>A	c.(1219-1221)gcC>gcA	p.A407A		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	407				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	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			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)					GCTTCGGCGCCCCGGCCATTT	0.627													A	50810943	C	A	50810943	2	1	71	1	0	0	0	0	0	0	0	1	15785	610	22	5		5	TFAP2B	6	50810943	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	17578338	50810943	120304124	16	4597											
TRIP6	7205	broad.mit.edu	37	7	100466151	100466151	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr7:100466151C>T	uc003uww.3	+	3	568	c.398C>T	c.(397-399)aCg>aTg	p.T133M	TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Missense_Mutation_p.T112M|TRIP6_uc022ait.1_Intron|TRIP6_uc022aiu.1_5'UTR	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	133					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTACCGCACGGGCTCCCTG	0.637													T	100466151	C	T	100466151	3	4	71	1	0	0	0	0	1	0	0	0	16556	536	19	1	412	1	TRIP6	7	100466151	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		100466151	58672512	17	4598											
GRM8	2918	broad.mit.edu	37	7	126086220	126086220	+	Silent	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr7:126086220G>A	uc003vlr.2	-	8	2948	c.2637C>T	c.(2635-2637)ggC>ggT	p.G879G	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.G879G|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	879					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTTCACCTCGCCATTTGGTC	0.453										HNSCC(24;0.065)			A	126086220	G	A	126086220	2	1	71	1	0	0	0	0	0	0	0	1	6803	1074	38	1		1	GRM8	7	126086220	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08	25620069	126086220	33052443	18	4599											
RAB11FIP1	80223	broad.mit.edu	37	8	37732071	37732071	+	Silent	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr8:37732071G>A	uc003xkm.2	-	2	1640	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	RAB11FIP1_uc003xkn.2_Silent_p.S528S|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.S376S	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	528					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCCTCGGAGAGGAAATTGGAG	0.547													A	37732071	G	A	37732071	2	1	71	1	0	0	0	0	0	0	0	1	12893	987	35	3		3	RAB11FIP1	8	37732071	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08		37732071	108631951	19	4600											
ARMC3	219681	broad.mit.edu	37	10	23297794	23297794	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr10:23297794A>G	uc001irm.4	+	15	2062	c.1979A>G	c.(1978-1980)aAa>aGa	p.K660R	ARMC3_uc010qcv.2_Missense_Mutation_p.K653R|ARMC3_uc010qcw.2_Missense_Mutation_p.K397R	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	660							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATAGAAGACAAATCAGAGCCA	0.383													G	23297794	A	G	23297794	3	3	71	1	0	0	0	0	1	0	0	0	952	14	1	4	2037	4	ARMC3	10	23297794	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08		23297794	112236953	20	4601											
PTEN	5728	broad.mit.edu	37	10	89711900	89711900	+	Missense_Mutation	SNP	G	G	A	rs121913294		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr10:89711900G>A	uc001kfb.3	+	5	1550	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R173H(47)|p.R173C(37)|p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.R173P(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R172R(1)|p.R172W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTCAGAGGCGCTATGTGTAT	0.348	R173H(RL952_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89711900	G	A	89711900	3	1	71	1	0	0	0	0	1	0	0	0	12738	1087	38	1	540	1	PTEN	10	89711900	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	66414106	89711900	45822847	21	4602											
ST5	6764	broad.mit.edu	37	11	8752166	8752166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:8752166delC	uc001mgt.3	-	2	857	c.671delG	c.(670-672)ggcfs	p.G224fs	ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Frame_Shift_Del_p.G224fs|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Frame_Shift_Del_p.G224fs	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	224					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCTCCGGAGGCCCTTGAAATC	0.642													-	8752166	C	-	8752166	7	5	71	1	0	1	0	1	0	0	0	0	15219	739	26	0	2814	0	ST5	11	8752166	Frame_Shift_Del	DEL	C	TCGA-06-0882-01A-01W-0424-08		8752166	126254350	22	4603											
OR8J3	81168	broad.mit.edu	37	11	55904404	55904404	+	Missense_Mutation	SNP	G	G	C	rs143365733	byFrequency	TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:55904404G>C	uc010riz.2	-	0	791	c.791C>G	c.(790-792)aCc>aGc	p.T264S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q263L(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)					TGAGTGGTTGGTTTGGGGCTG	0.428													C	55904404	G	C	55904404	3	2	71	1	0	0	0	0	1	0	0	0	11242	1261	44	5	158	5	OR8J3	11	55904404	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	47152238	55904404	79102112	23	4604											
SLC22A20	440044	broad.mit.edu	37	11	64981482	64981482	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:64981482C>A	uc021qlg.1	+	0	172	c.139C>A	c.(139-141)Ccc>Acc	p.P47T	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	45					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GGCCGCTGTCCCCCCCCACCA	0.692													A	64981482	C	A	64981482	3	1	71	1	0	0	0	0	1	0	0	0	14451	623	22	5	141	5	SLC22A20	11	64981482	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	9077078	64981482	70025034	24	4605											
TIGD3	220359	broad.mit.edu	37	11	65124539	65124539	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:65124539C>G	uc021qlj.1	+	0	1260	c.1260C>G	c.(1258-1260)gaC>gaG	p.D420E	TIGD3_uc001odo.4_Missense_Mutation_p.D420E	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	420					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AGAAGGGGGACAGAGAGGGTG	0.587													G	65124539	C	G	65124539	3	3	71	1	0	0	0	0	1	0	0	0	15894	477	17	5	1262	5	TIGD3	11	65124539	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	143057	65124539	69881977	25	4606											
ITGB7	3695	broad.mit.edu	37	12	53590514	53590514	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr12:53590514C>T	uc009zmv.3	-	4	736	c.665G>A	c.(664-666)cGc>cAc	p.R222H	ITGB7_uc001scc.3_Missense_Mutation_p.R222H|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_3'UTR	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	222	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGACTGGCAGCGCTCCAGCCG	0.622													T	53590514	C	T	53590514	3	4	71	1	0	0	0	0	1	0	0	0	7900	768	27	1	1775	1	ITGB7	12	53590514	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		53590514	80261381	26	4607											
LHFP	10186	broad.mit.edu	37	13	40175282	40175282	+	Silent	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr13:40175282G>A	uc001uxf.3	-	1	583	c.72C>T	c.(70-72)tgC>tgT	p.C24C		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.	24						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGAACCCCACGCAGGAGGTGG	0.537			T	HMGA2	lipoma								A	40175282	G	A	40175282	2	1	71	1	0	0	0	0	0	0	0	1	8763	1079	38	1		1	LHFP	13	40175282	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08		40175282	74994596	27	4608											
C14orf182	283551	broad.mit.edu	37	14	50472507	50472507	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr14:50472507C>T	uc001wxi.1	-	0	1732	c.11G>A	c.(10-12)cGg>cAg	p.R4Q		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	Homo sapiens chromosome 14 open reading frame 182 (C14orf182), mRNA.	4										large_intestine(2)|urinary_tract(1)	3						GGTTGCCATCCGACCTGTCAT	0.507													T	50472507	C	T	50472507	3	4	71	1	0	0	0	0	1	0	0	0	1765	652	23	2	324	2	C14orf182	14	50472507	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		50472507	56877033	28	4609											
TDRD9	122402	broad.mit.edu	37	14	104493271	104493271	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr14:104493271T>C	uc001yom.4	+	27	3307	c.3277T>C	c.(3277-3279)Tcc>Ccc	p.S1093P	TDRD9_uc001yon.4_Missense_Mutation_p.S831P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1093					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GTCCTACGAGTCCAAGGTGTG	0.582													C	104493271	T	C	104493271	3	2	71	1	0	0	0	0	1	0	0	0	15733	1667	58	4	3387	4	TDRD9	14	104493271	Missense_Mutation	SNP	T	TCGA-06-0882-01A-01W-0424-08	54020764	104493271	2856269	29	4610											
PLCB2	5330	broad.mit.edu	37	15	40596215	40596215	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr15:40596215G>A	uc001zld.3	-	1	450	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PLCB2_uc010bbo.3_Missense_Mutation_p.T50M|PLCB2_uc010ucm.2_Missense_Mutation_p.T50M|PLCB2_uc001zle.4_Missense_Mutation_p.T50M	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	50					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACTTTGATACGTCCAGTATAA	0.527													A	40596215	G	A	40596215	3	1	71	1	0	0	0	0	1	0	0	0	12028	1145	40	1	3532	1	PLCB2	15	40596215	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08		40596215	61935177	30	4611											
RPAP1	26015	broad.mit.edu	37	15	41810014	41810014	+	Silent	SNP	T	T	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr15:41810014T>C	uc001zod.3	-	23	4138	c.4014A>G	c.(4012-4014)acA>acG	p.T1338T		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	1338						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGCAGCCATGTTTTCTGCA	0.562													C	41810014	T	C	41810014	2	2	71	1	0	0	0	0	0	0	0	1	13541	1451	51	4		4	RPAP1	15	41810014	Silent	SNP	T	TCGA-06-0882-01A-01W-0424-08	1213799	41810014	60721378	31	4612											
ABCC1	4363	broad.mit.edu	37	16	16225756	16225756	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr16:16225756C>T	uc010bvi.3	+	26	4105	c.3930C>T	c.(3928-3930)ctC>ctT	p.L1310L	ABCC1_uc010bvj.3_Silent_p.L1251L|ABCC1_uc010bvk.3_Silent_p.L1254L|ABCC1_uc010bvl.3_Silent_p.L1310L|ABCC1_uc010bvm.3_Silent_p.L1195L|ABCC1_uc002del.4_Silent_p.L1204L|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Missense_Mutation_p.S200L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1310	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACTTCGTTCTCAGGCACATCA	0.607													T	16225756	C	T	16225756	2	4	71	1	0	0	0	0	0	0	0	1	49	813	29	3		3	ABCC1	16	16225756	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08		16225756	74128997	32	4613											
RLTPR	146206	broad.mit.edu	37	16	67683169	67683169	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr16:67683169C>T	uc002etn.3	+	18	1821	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D	RLTPR_uc010cel.1_Silent_p.D560D|RLTPR_uc010vjr.2_Silent_p.D531D	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	567										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGACCCTGGACGACGTCCTGC	0.637													T	67683169	C	T	67683169	2	4	71	1	0	0	0	0	0	0	0	1	13394	535	19	1		1	RLTPR	16	67683169	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	51457413	67683169	22671584	33	4614											
DRG2	1819	broad.mit.edu	37	17	18007951	18007951	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:18007951A>T	uc002gsh.1	+	10	965	c.910A>T	c.(910-912)Aca>Tca	p.T304S		NM_001388	NP_001379	P55039	DRG2_HUMAN	Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA.	304					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					GCCAGACTTCACAGACGCCAT	0.607													T	18007951	A	T	18007951	3	4	71	1	0	0	0	0	1	0	0	0	4762	159	6	5	952	5	DRG2	17	18007951	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08		18007951	63187259	34	4615											
SLFN12	55106	broad.mit.edu	37	17	33749828	33749828	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:33749828C>T	uc002hji.4	-	1	597	c.220G>A	c.(220-222)Gga>Aga	p.G74R	SLFN12_uc002hjj.4_Missense_Mutation_p.G74R|SLFN12_uc010cts.3_Missense_Mutation_p.G74R	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	74							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTCCTATTCCATCTTTTGTA	0.363													T	33749828	C	T	33749828	3	4	71	1	0	0	0	0	1	0	0	0	14734	603	21	3	1528	3	SLFN12	17	33749828	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	15741877	33749828	47445382	35	4616	7	2									
SLFN12	55106	broad.mit.edu	37	17	33749831	33749831	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:33749831C>T	uc002hji.4	-	1	594	c.217G>A	c.(217-219)Gat>Aat	p.D73N	SLFN12_uc002hjj.4_Missense_Mutation_p.D73N|SLFN12_uc010cts.3_Missense_Mutation_p.D73N	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	73							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTATTCCATCTTTTGTATAA	0.368													T	33749831	C	T	33749831	3	4	71	1	0	0	0	0	1	0	0	0	14734	913	32	3	1531	3	SLFN12	17	33749831	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	3	33749831	47445379	36	4617	7	2									
LYZL6	57151	broad.mit.edu	37	17	34261842	34261842	+	Silent	SNP	G	G	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:34261842G>T	uc002hkj.2	-	3	605	c.405C>A	c.(403-405)ggC>ggA	p.G135G	LYZL6_uc002hkk.2_Silent_p.G135G	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	135					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAGTGGCCGGCCTGAACAGT	0.537													T	34261842	G	T	34261842	2	4	71	1	0	0	0	0	0	0	0	1	9134	1190	42	5		5	LYZL6	17	34261842	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08	512011	34261842	46933368	37	4618											
HOXB9	3219	broad.mit.edu	37	17	46703491	46703491	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:46703491G>C	uc002inx.3	-	0	345	c.141C>G	c.(139-141)ttC>ttG	p.F47L		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	47					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TGCACGAGGGGAACTCCAGGT	0.687													C	46703491	G	C	46703491	3	2	71	1	0	0	0	0	1	0	0	0	7308	1165	41	5	619	5	HOXB9	17	46703491	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	12441649	46703491	34491719	38	4619			1	13		2	2	48	G		7.439135e-05
HOXB9	3219	broad.mit.edu	37	17	46703538	46703538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:46703538G>A	uc002inx.3	-	0	298	c.94C>T	c.(94-96)Cag>Tag	p.Q32*		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	32					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CTCGCGTACTGGCCAGAAGGA	0.622													A	46703538	G	A	46703538	4	1	71	1	0	0	0	0	0	1	0	0	7308	1357	47	3	666	3	HOXB9	17	46703538	Nonsense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	47	46703538	34491672	39	4620			1	13		2	2	48	G		7.439135e-05
CACNG1	786	broad.mit.edu	37	17	65041001	65041001	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:65041001C>T	uc002jfu.3	+	0	350	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	75					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P75A(1)		breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	TCACCCTGCCCGGGGGTAACG	0.637													T	65041001	C	T	65041001	2	4	71	1	0	0	0	0	0	0	0	1	2556	639	23	2		2	CACNG1	17	65041001	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	18337463	65041001	16154209	40	4621											
KIF19	124602	broad.mit.edu	37	17	72345359	72345359	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:72345359G>A	uc002jkm.4	+	9	1222	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T	KIF19_uc002jkj.2_Missense_Mutation_p.A362T|KIF19_uc002jkk.2_Missense_Mutation_p.A320T|KIF19_uc002jkl.2_Missense_Mutation_p.A320T	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	362					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTACCACATCGCCCAGTACAC	0.642													A	72345359	G	A	72345359	3	1	71	1	0	0	0	0	1	0	0	0	8282	1087	38	1	1122	1	KIF19	17	72345359	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	7304358	72345359	8849851	41	4622											
LAMA1	284217	broad.mit.edu	37	18	6978310	6978310	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr18:6978310C>T	uc002knm.3	-	42	6169	c.6075G>A	c.(6073-6075)acG>acA	p.T2025T	LAMA1_uc010wzj.2_Silent_p.T1501T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2025	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.T2025M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTCCCTCAGCGTGCTCACCG	0.537													T	6978310	C	T	6978310	2	4	71	1	0	0	0	0	0	0	0	1	8605	755	27	1		1	LAMA1	18	6978310	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08		6978310	71098938	42	4623											
SETBP1	26040	broad.mit.edu	37	18	42530386	42530386	+	Missense_Mutation	SNP	G	G	T	rs146321232		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr18:42530386G>T	uc010dni.3	+	3	1377	c.1081G>T	c.(1081-1083)Gca>Tca	p.A361S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	361						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCCCAGAAAGCATTTGACAA	0.478									Schinzel-Giedion syndrome				T	42530386	G	T	42530386	3	4	71	1	0	0	0	0	1	0	0	0	14129	971	34	5	1284	5	SETBP1	18	42530386	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	35552076	42530386	35546862	43	4624											
ZNF254	9534	broad.mit.edu	37	19	24309636	24309636	+	Silent	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:24309636C>T	uc002nru.3	+	3	968	c.834C>T	c.(832-834)tcC>tcT	p.S278S	ZNF254_uc010xrk.2_Silent_p.S193S	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	278					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTAATCGATCCTCAAATCTTA	0.378													T	24309636	C	T	24309636	2	4	71	1	0	0	0	0	0	0	0	1	17795	668	24	3		3	ZNF254	19	24309636	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08		24309636	34819347	44	4625											
MEGF8	1954	broad.mit.edu	37	19	42861568	42861568	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:42861568G>A	uc002otl.4	+	26	5277	c.4642G>A	c.(4642-4644)Gtg>Atg	p.V1548M	MEGF8_uc002otm.4_Missense_Mutation_p.V1156M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1615						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCCCAGACCGTGGAGCTGCC	0.652													A	42861568	G	A	42861568	3	1	71	1	0	0	0	0	1	0	0	0	9463	1145	40	1	4748	1	MEGF8	19	42861568	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	18551932	42861568	16267415	45	4626											
DUXA	503835	broad.mit.edu	37	19	57669795	57669795	+	Silent	SNP	T	T	C			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:57669795T>C	uc002qoa.1	-	3	384	c.339A>G	c.(337-339)ttA>ttG	p.L113L		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	113						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		TGAGAGTGTGTAACTGAGAGG	0.488													C	57669795	T	C	57669795	2	2	71	1	0	0	0	0	0	0	0	1	4834	1635	57	4		4	DUXA	19	57669795	Silent	SNP	T	TCGA-06-0882-01A-01W-0424-08	14808227	57669795	1459188	46	4627											
TASP1	55617	broad.mit.edu	37	20	13514755	13514755	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr20:13514755C>T	uc002woi.3	-	8	826	c.709G>A	c.(709-711)Gct>Act	p.A237T	TASP1_uc010zri.1_Intron|TASP1_uc010zrj.1_Non-coding_Transcript	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.	237					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						ACAACCACAGCGCCTACCGTG	0.507													T	13514755	C	T	13514755	3	4	71	1	0	0	0	0	1	0	0	0	15586	768	27	1	577	1	TASP1	20	13514755	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		13514755	49510765	47	4628											
REM1	28954	broad.mit.edu	37	20	30070268	30070268	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr20:30070268G>A	uc002wwa.3	+	3	886	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	201					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GACTTGGCCCGCTGCCGAGAA	0.612													A	30070268	G	A	30070268	3	1	71	1	0	0	0	0	1	0	0	0	13222	1087	38	1	612	1	REM1	20	30070268	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	16555513	30070268	32955252	48	4629											
TRPM2	7226	broad.mit.edu	37	21	45826547	45826547	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr21:45826547C>A	uc010gpt.1	+	18	2961	c.2861C>A	c.(2860-2862)gCc>gAc	p.A954D	TRPM2_uc002zet.1_Missense_Mutation_p.A954D|TRPM2_uc002zeu.1_Missense_Mutation_p.A954D|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.A954D|TRPM2_uc002zex.1_Missense_Mutation_p.A740D|TRPM2_uc002zey.1_Missense_Mutation_p.A467D	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	954						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCAAGCAGGCCATCCTCATC	0.607													A	45826547	C	A	45826547	3	1	71	1	0	0	0	0	1	0	0	0	16583	739	26	5	2935	5	TRPM2	21	45826547	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		45826547	2303348	49	4630											
MID2	11043	broad.mit.edu	37	X	107160914	107160914	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chrX:107160914G>T	uc004enl.3	+	6	1953	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	MID2_uc004enk.3_Intron	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	460	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGGCCAGAGATAAGGAAAT	0.468													T	107160914	G	T	107160914	3	4	71	1	0	0	0	0	1	0	0	0	9578	933	33	5	1406	5	MID2	23	107160914	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08		107160914	48109646	50	4631											
FBXO44	93611	broad.mit.edu	37	1	11716011	11716011	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:11716011T>C	uc010oar.2	+	1	245	c.119T>C	c.(118-120)cTc>cCc	p.L40P	FBXO2_uc001asj.3_5'Flank|FBXO2_uc009vna.3_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.3_Missense_Mutation_p.L40P|FBXO44_uc010oaq.1_Missense_Mutation_p.L40P|FBXO44_uc010oas.2_5'UTR|FBXO44_uc001asm.3_Missense_Mutation_p.L40P|FBXO44_uc001asl.3_Missense_Mutation_p.L40P|FBXO44_uc001asn.3_Missense_Mutation_p.L40P	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN	Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.	40	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGGGACCTCATCGACCTC	0.632													C	11716011	T	C	11716011	3	2	72	1	0	0	0	0	1	0	0	0	5753	1551	54	4	121	4	FBXO44	1	11716011	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08		11716011	237534610	1	4632											
NFIA	4774	broad.mit.edu	37	1	61869812	61869812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:61869812C>T	uc010oos.2	+	8	1329	c.1247C>T	c.(1246-1248)cCg>cTg	p.P416L	NFIA_uc001czy.3_Missense_Mutation_p.P363L|NFIA_uc001czw.3_Missense_Mutation_p.P371L|NFIA_uc001czv.3_Missense_Mutation_p.P371L|NFIA_uc001czx.3_Missense_Mutation_p.P19L|NFIA_uc009wae.3_5'Flank	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	371					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTTCATTTCCCGACATCACCC	0.493													T	61869812	C	T	61869812	3	4	72	1	0	0	0	0	1	0	0	0	10370	652	23	2	1288	2	NFIA	1	61869812	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	50153801	61869812	187380809	2	4633											
LRRC8C	84230	broad.mit.edu	37	1	90178321	90178321	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:90178321C>A	uc001dnl.4	+	2	434	c.192C>A	c.(190-192)aaC>aaA	p.N64K		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	64						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGCTCAGAACCACTCTTCCC	0.433													A	90178321	C	A	90178321	3	1	72	1	0	0	0	0	1	0	0	0	9023	506	18	5	198	5	LRRC8C	1	90178321	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	28308509	90178321	159072300	3	4634											
FLG	2312	broad.mit.edu	37	1	152287099	152287099	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:152287099G>T	uc001ezu.1	-	2	299	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	AK056431_uc001ezv.3_Splice_Site	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	88					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TTTTCTGGTAGACTCATAATA	0.358									Ichthyosis				T	152287099	G	T	152287099	3	4	72	1	0	0	0	0	1	0	0	0	5922	942	33	5	11926	5	FLG	1	152287099	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	62108778	152287099	96963522	4	4635											
PBXIP1	57326	broad.mit.edu	37	1	154918742	154918742	+	Silent	SNP	T	T	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:154918742T>G	uc001ffr.3	-	9	1467	c.1408A>C	c.(1408-1410)Agg>Cgg	p.R470R	PBXIP1_uc001ffs.3_Silent_p.R441R|PBXIP1_uc010pep.2_Silent_p.R315R	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	470					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCACTCCCTAGAATTCTGG	0.567													G	154918742	T	G	154918742	2	3	72	1	0	0	0	0	0	0	0	1	11496	1521	53	5		5	PBXIP1	1	154918742	Silent	SNP	T	TCGA-06-0939-01A-01D-1353-08	2631643	154918742	94331879	5	4636											
SPTA1	6708	broad.mit.edu	37	1	158615169	158615169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:158615169G>A	uc001fst.1	-	28	4202	c.4003C>T	c.(4003-4005)Cgt>Tgt	p.R1335C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1335					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1335G(4)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATGTCAGCACGGTGCTCCTGT	0.488													A	158615169	G	A	158615169	3	1	72	1	0	0	0	0	1	0	0	0	15115	1116	39	2	3352	2	SPTA1	1	158615169	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3696427	158615169	90635452	6	4637											
DCAF8	50717	broad.mit.edu	37	1	160250017	160250017	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:160250017C>T	uc010pjc.1	-	3	445	c.173G>A	c.(172-174)aGt>aAt	p.S58N	DCAF8_uc001fvs.2_Missense_Mutation_p.S205N|DCAF8_uc021pbq.1_Missense_Mutation_p.S205N|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Missense_Mutation_p.S115N	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.	142						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTCCCGATGACTCTGCAACCA	0.418													T	160250017	C	T	160250017	3	4	72	1	0	0	0	0	1	0	0	0	4276	565	20	3		3	DCAF8	1	160250017	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	1634848	160250017	89000604	7	4638											
PAPPA2	60676	broad.mit.edu	37	1	176563773	176563773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:176563773G>A	uc001gkz.3	+	2	2197	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	PAPPA2_uc001gky.1_Missense_Mutation_p.D345N|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	345					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTCTGCACCGACCGCGTGAA	0.592													A	176563773	G	A	176563773	3	1	72	1	0	0	0	0	1	0	0	0	11433	1058	37	2	1039	2	PAPPA2	1	176563773	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	16313756	176563773	72686848	8	4639											
ABL2	27	broad.mit.edu	37	1	179090932	179090932	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:179090932T>C	uc001gmj.4	-	4	1045	c.758A>G	c.(757-759)gAt>gGt	p.D253G	ABL2_uc010pnf.2_Missense_Mutation_p.D253G|ABL2_uc010png.2_Missense_Mutation_p.D232G|ABL2_uc010pnh.2_Missense_Mutation_p.D232G|ABL2_uc009wxe.3_Missense_Mutation_p.D232G|ABL2_uc001gmg.4_Missense_Mutation_p.D238G|ABL2_uc001gmi.4_Missense_Mutation_p.D238G|ABL2_uc010pne.2_Missense_Mutation_p.D217G|ABL2_uc001gmk.3_Missense_Mutation_p.D217G|ABL2_uc009wxf.2_Missense_Mutation_p.D238G	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	253	SH2.				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			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)	CACCAGCCCATCAGCCACTGT	0.498			T	ETV6	AML								C	179090932	T	C	179090932	3	2	72	1	0	0	0	0	1	0	0	0	93	1435	50	4	2867	4	ABL2	1	179090932	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	2527159	179090932	70159689	9	4640											
IL10	3586	broad.mit.edu	37	1	206942020	206942020	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:206942020G>A	uc001hen.1	-	4	557	c.498C>T	c.(496-498)aaC>aaT	p.N166N		NM_000572	NP_000563	P22301	IL10_HUMAN	Homo sapiens interleukin 10 (IL10), mRNA.	166					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTTCTATGTAGTTGATGAAGA	0.413													A	206942020	G	A	206942020	2	1	72	1	0	0	0	0	0	0	0	1	7619	1020	36	3		3	IL10	1	206942020	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	27851088	206942020	42308601	10	4641											
CD46	4179	broad.mit.edu	37	1	207930974	207930974	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207930974A>G	uc001hgc.3	+	2	551	c.376A>G	c.(376-378)Att>Gtt	p.I126V	CD46_uc001hgg.3_Missense_Mutation_p.I126V|CD46_uc001hgh.3_Missense_Mutation_p.I126V|CD46_uc001hgi.3_Missense_Mutation_p.I126V|CD46_uc001hgj.3_Missense_Mutation_p.I126V|CD46_uc001hgm.3_Missense_Mutation_p.I126V|CD46_uc001hgl.3_Missense_Mutation_p.I126V|CD46_uc001hgp.3_Missense_Mutation_p.I126V	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	126	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GATGCACTTTATTTGTAATGA	0.363													G	207930974	A	G	207930974	3	3	72	1	0	0	0	0	1	0	0	0	3018	449	16	4	386	4	CD46	1	207930974	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	988954	207930974	41319647	11	4642											
CD46	4179	broad.mit.edu	37	1	207934671	207934671	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207934671G>T	uc001hgc.3	+	4	728	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CD46_uc001hgg.3_Missense_Mutation_p.D185Y|CD46_uc001hgh.3_Missense_Mutation_p.D185Y|CD46_uc001hgi.3_Missense_Mutation_p.D185Y|CD46_uc001hgj.3_Missense_Mutation_p.D185Y|CD46_uc001hgm.3_Missense_Mutation_p.D185Y|CD46_uc001hgl.3_Missense_Mutation_p.D185Y|CD46_uc001hgp.3_Missense_Mutation_p.D185Y	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	185	Sushi 3.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	p.D185G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGAGTATCTTGATGCAGTAAC	0.373													T	207934671	G	T	207934671	3	4	72	1	0	0	0	0	1	0	0	0	3018	1290	45	5	571	5	CD46	1	207934671	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3697	207934671	41315950	12	4643											
PSD4	23550	broad.mit.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:113940279C>T	uc002tjc.3	+	1	429	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D81D|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	82					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622													T	113940279	C	T	113940279	2	4	72	1	0	0	0	0	0	0	0	1	12649	535	19	1		1	PSD4	2	113940279	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08		113940279	129259094	13	4644											
MGAT5	4249	broad.mit.edu	37	2	135107438	135107438	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:135107438C>T	uc002ttw.4	+	8	1320	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	392					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCAAATTATGCCCAATCGAAA	0.413													T	135107438	C	T	135107438	3	4	72	1	0	0	0	0	1	0	0	0	9548	739	26	3	1209	3	MGAT5	2	135107438	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	21167159	135107438	108091935	14	4645											
XIRP2	129446	broad.mit.edu	37	2	168107813	168107813	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:168107813G>A	uc002udx.3	+	8	10000	c.9911G>A	c.(9910-9912)cGc>cAc	p.R3304H	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3129H|XIRP2_uc010fpq.3_Missense_Mutation_p.R3082H|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3129					actin cytoskeleton organization	cell junction	actin binding			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						GTGCCTCCTCGCCTGTCAGAG	0.438													A	168107813	G	A	168107813	3	1	72	1	0	0	0	0	1	0	0	0	17427	1087	38	1	9941	1	XIRP2	2	168107813	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	33000375	168107813	75091560	15	4646											
LRP2	4036	broad.mit.edu	37	2	170134318	170134318	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:170134318C>T	uc002ues.3	-	12	1922	c.1709G>A	c.(1708-1710)cGt>cAt	p.R570H	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	570					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R570H(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAGTAAACACGCTTCGATAT	0.408													T	170134318	C	T	170134318	3	4	72	1	0	0	0	0	1	0	0	0	8956	536	19	1	12526	1	LRP2	2	170134318	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	2026505	170134318	73065055	16	4647											
TTN	7273	broad.mit.edu	37	2	179399105	179399108	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179399105_179399108delTCTT	uc021vsy.1	-	306	94755_94758	c.94530_94533delAAGA	c.(94528-94533)gaaagafs	p.E31510fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.E25205fs|TTN_uc021vta.1_Frame_Shift_Del_p.E25138fs|TTN_uc021vtb.1_Frame_Shift_Del_p.E25013fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32437	Ig-like 140.						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)			TAGTACTGACTCTTTCTATCTTCT	0.461													-	179399108	TCTT	-	179399105	7	5	72	1	0	1	0	1	0	0	0	0	16732	1548	54	0	5762	0	TTN	2	179399105	Frame_Shift_Del	DEL	TCTT	TCGA-06-0939-01A-01D-1353-08	9264787	179399105	63800268	17	4648											
TTN	7273	broad.mit.edu	37	2	179544077	179544077	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179544077G>A	uc021vsy.1	-	138	30224	c.29999C>T	c.(29998-30000)cCg>cTg	p.P10000L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6661L|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10927	Glu-rich.						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)			TTTTGCTGGCGGAGGCTTCTC	0.413													A	179544077	G	A	179544077	3	1	72	1	0	0	0	0	1	0	0	0	16732	1116	39	2	70682	2	TTN	2	179544077	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	144972	179544077	63655296	18	4649											
SDPR	8436	broad.mit.edu	37	2	192711596	192711596	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:192711596C>T	uc002utb.3	-	0	411	c.56G>A	c.(55-57)cGg>cAg	p.R19Q		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	19						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTTTTCCTGCCGCATGTCAGA	0.607													T	192711596	C	T	192711596	3	4	72	1	0	0	0	0	1	0	0	0	13970	652	23	2	1229	2	SDPR	2	192711596	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	13167519	192711596	50487777	19	4650											
NGEF	25791	broad.mit.edu	37	2	233744299	233744299	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:233744299G>T	uc002vts.2	-	14	2281	c.2033C>A	c.(2032-2034)tCc>tAc	p.S678Y	NGEF_uc010zmm.1_Missense_Mutation_p.S401Y|NGEF_uc010fyg.1_Missense_Mutation_p.S586Y	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	678					apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.R677Q(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGTTCTGGGACCGGATCTT	0.582													T	233744299	G	T	233744299	3	4	72	1	0	0	0	0	1	0	0	0	10394	1174	41	5	103	5	NGEF	2	233744299	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	41032703	233744299	9455074	20	4651											
PPARG	5468	broad.mit.edu	37	3	12447429	12447429	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:12447429C>T	uc003bwx.3	+	4	759	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PPARG_uc003bwr.3_Missense_Mutation_p.A195V|PPARG_uc003bws.3_Missense_Mutation_p.A195V|PPARG_uc003bwu.3_Missense_Mutation_p.A195V|PPARG_uc003bwv.3_Missense_Mutation_p.A195V|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.A195V|PPARG_uc003bww.1_Missense_Mutation_p.A223V	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	223	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.A223A(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGCTGTTGGCGGAGATCTCC	0.512			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						T	12447429	C	T	12447429	3	4	72	1	0	0	0	0	1	0	0	0	12299	768	27	1	686	1	PPARG	3	12447429	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		12447429	185575001	21	4652											
C3orf72	401089	broad.mit.edu	37	3	138669148	138669148	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:138669148C>T	uc003esx.1	+	2	393	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	AK304483_uc011bmr.2_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	88										large_intestine(1)|lung(3)	4						GCCCGCGCCTCGGGCTTCCGG	0.692													T	138669148	C	T	138669148	3	4	72	1	0	0	0	0	1	0	0	0	2244	875	31	2	272	2	C3orf72	3	138669148	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	126221719	138669148	59353282	22	4653											
SUCNR1	56670	broad.mit.edu	37	3	151598459	151598459	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:151598459T>C	uc003ezf.2	+	2	233	c.128T>C	c.(127-129)aTt>aCt	p.I43T		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	43						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGAAATACCATTGTTGTTTAC	0.433													C	151598459	T	C	151598459	3	2	72	1	0	0	0	0	1	0	0	0	15365	1493	52	4	134	4	SUCNR1	3	151598459	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	12929311	151598459	46423971	23	4654											
ZNF732	654254	broad.mit.edu	37	4	266352	266352	+	Silent	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:266352A>G	uc021xka.1	-	3	294	c.294T>C	c.(292-294)ctT>ctC	p.L98L	ZNF732_uc011buu.1_Silent_p.L66L	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTCTTAATATAAGTTTGTGGA	0.328													G	266352	A	G	266352	2	3	72	1	0	0	0	0	0	0	0	1	18120	349	13	4		4	ZNF732	4	266352	Silent	SNP	A	TCGA-06-0939-01A-01D-1353-08		266352	190887924	24	4655											
WDR19	57728	broad.mit.edu	37	4	39267694	39267694	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:39267694C>T	uc003gtv.3	+	28	3349	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	WDR19_uc011byi.2_Silent_p.A905A|WDR19_uc003gtw.1_Silent_p.A662A	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	1065					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTGGTCAGGCCAAAGATGAAC	0.473													T	39267694	C	T	39267694	2	4	72	1	0	0	0	0	0	0	0	1	17276	581	21	3		3	WDR19	4	39267694	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	39001342	39267694	151886582	25	4656											
GUCY1B3	2983	broad.mit.edu	37	4	156721201	156721201	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:156721201G>T	uc003ipc.3	+	8	1317	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	GUCY1B3_uc011cio.2_Nonsense_Mutation_p.E406*|GUCY1B3_uc011cip.2_Nonsense_Mutation_p.E364*|GUCY1B3_uc003ipd.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc010iqf.3_Nonsense_Mutation_p.E384*|GUCY1B3_uc010iqg.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc011ciq.2_Nonsense_Mutation_p.E312*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	384					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	p.L383L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAGAGCCCTGGAAGATGAAAA	0.393													T	156721201	G	T	156721201	4	4	72	1	0	0	0	0	0	1	0	0	6895	1175	41	5	1184	5	GUCY1B3	4	156721201	Nonsense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	117453507	156721201	34433075	26	4657											
KIAA0947	23379	broad.mit.edu	37	5	5464090	5464090	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:5464090C>G	uc003jdm.4	+	12	4865	c.4643C>G	c.(4642-4644)cCa>cGa	p.P1548R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1548										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACTAGAGCCATCTGGCAAA	0.358													G	5464090	C	G	5464090	3	3	72	1	0	0	0	0	1	0	0	0	8202	594	21	5	4693	5	KIAA0947	5	5464090	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		5464090	175451170	27	4658											
BDP1	55814	broad.mit.edu	37	5	70806902	70806902	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:70806902C>A	uc003kbp.1	+	16	4246	c.3983C>A	c.(3982-3984)aCc>aAc	p.T1328N	BDP1_uc003kbn.1_Missense_Mutation_p.T1328N|BDP1_uc003kbo.3_Missense_Mutation_p.T1328N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1328					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGACCAGTACCTCAAGACAA	0.408													A	70806902	C	A	70806902	3	1	72	1	0	0	0	0	1	0	0	0	1395	507	18	5	4049	5	BDP1	5	70806902	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	65342812	70806902	110108358	28	4659											
SV2C	22987	broad.mit.edu	37	5	75428010	75428010	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:75428010C>T	uc003kei.1	+	1	569	c.435C>T	c.(433-435)tgC>tgT	p.C145C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	145					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537													T	75428010	C	T	75428010	2	4	72	1	0	0	0	0	0	0	0	1	15416	776	27	1		1	SV2C	5	75428010	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	4621108	75428010	105487250	29	4660											
FAM81B	153643	broad.mit.edu	37	5	94749868	94749868	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:94749868G>A	uc003kla.1	+	3	557	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	171										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CACCAGCATCGTCAAAAAACT	0.418													A	94749868	G	A	94749868	3	1	72	1	0	0	0	0	1	0	0	0	5629	1145	40	1	525	1	FAM81B	5	94749868	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	19321858	94749868	86165392	30	4661											
PCDHAC2	56147	broad.mit.edu	37	5	140166149	140166149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:140166149C>T	uc003lhb.2	+	0	274	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	PCDHAC2_uc003lha.2_Missense_Mutation_p.R92C|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R92C	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	107	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGATCGATCGCGAGGAGCT	0.567													T	140166149	C	T	140166149	3	4	72	1	0	0	0	0	1	0	0	0	11533	884	31	2		2	PCDHAC2	5	140166149	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	45416281	140166149	40749111	31	4662											
MED7	9443	broad.mit.edu	37	5	156565766	156565766	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:156565766A>G	uc010jik.3	-	1	1069	c.677T>C	c.(676-678)aTt>aCt	p.I226T	MED7_uc003lwm.4_Missense_Mutation_p.I226T|MED7_uc021ygl.1_Missense_Mutation_p.I226T	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	226					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCTCATCAATTAGGACACA	0.323													G	156565766	A	G	156565766	3	3	72	1	0	0	0	0	1	0	0	0	9452	101	4	4	28	4	MED7	5	156565766	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	16399617	156565766	24349494	32	4663											
ADAMTS2	9509	broad.mit.edu	37	5	178581109	178581109	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:178581109G>A	uc003mjw.3	-	7	1425	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	ADAMTS2_uc011dgm.2_Silent_p.A441A	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	441	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGGAAGGCGGCCTGCACCA	0.711													A	178581109	G	A	178581109	2	1	72	1	0	0	0	0	0	0	0	1	265	1103	39	2		2	ADAMTS2	5	178581109	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	22015343	178581109	2334151	33	4664											
MUT	4594	broad.mit.edu	37	6	49419405	49419405	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:49419405C>T	uc003ozg.4	-	5	1371	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	369			R -> C (in MMAM; mut0).|R -> H (in MMAM; mut- and mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGCAGTACGGACAATATT	0.348													T	49419405	C	T	49419405	3	4	72	1	0	0	0	0	1	0	0	0	9991	536	19	1	1178	1	MUT	6	49419405	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		49419405	121695662	34	4665											
ZNF451	26036	broad.mit.edu	37	6	56963890	56963890	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:56963890T>C	uc003pdm.1	+	2	361	c.137T>C	c.(136-138)aTt>aCt	p.I46T	ZNF451_uc003pdl.3_Missense_Mutation_p.I46T|ZNF451_uc003pdn.1_Missense_Mutation_p.I46T|ZNF451_uc011dxn.2_Missense_Mutation_p.I46T|ZNF451_uc003pdk.1_Missense_Mutation_p.I46T|ZNF451_uc003pdo.3_Non-coding_Transcript|ZNF451_uc003pdp.3_5'Flank	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTGAATACATTGATCTGGTC	0.338													C	56963890	T	C	56963890	3	2	72	1	0	0	0	0	1	0	0	0	17919	1493	52	4	147	4	ZNF451	6	56963890	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	7544485	56963890	114151177	35	4666											
SIM1	6492	broad.mit.edu	37	6	100896122	100896122	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:100896122C>T	uc003pqj.4	-	6	1217	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SIM1_uc021zdg.1_Silent_p.A250A|SIM1_uc010kcu.3_Silent_p.A250A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	250	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCGTCAGCTCCGCCACCCTGA	0.627													T	100896122	C	T	100896122	2	4	72	1	0	0	0	0	0	0	0	1	14323	639	23	2		2	SIM1	6	100896122	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	43932232	100896122	70218945	36	4667											
AIM1	202	broad.mit.edu	37	6	107008787	107008787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:107008787C>T	uc003prh.3	+	16	5653	c.4741C>T	c.(4741-4743)Cga>Tga	p.R1581*	AIM1_uc003pri.3_Nonsense_Mutation_p.R385*	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1581	Beta/gamma crystallin 'Greek key' 12.						sugar binding	p.R1581Q(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGTTCTCTACGACCTTTTGT	0.378													T	107008787	C	T	107008787	4	4	72	1	0	0	0	0	0	1	0	0	430	528	19	1	4807	1	AIM1	6	107008787	Nonsense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	6112665	107008787	64106280	37	4668											
HECA	51696	broad.mit.edu	37	6	139488187	139488187	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:139488187G>A	uc003qin.3	+	1	1323	c.1038G>A	c.(1036-1038)cgG>cgA	p.R346R		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	346					respiratory tube development			p.R346W(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCCTTCGGCGGCTGGACCTCT	0.597													A	139488187	G	A	139488187	2	1	72	1	0	0	0	0	0	0	0	1	7038	1190	42	3		3	HECA	6	139488187	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	32479400	139488187	31626880	38	4669											
SNX9	51429	broad.mit.edu	37	6	158357061	158357061	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:158357061G>T	uc003qqv.1	+	13	1605	c.1432G>T	c.(1432-1434)Gtg>Ttg	p.V478L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	478	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.V478V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TGCCAGTCTCGTGGCAGAACA	0.348													T	158357061	G	T	158357061	3	4	72	1	0	0	0	0	1	0	0	0	14909	1145	40	5	1486	5	SNX9	6	158357061	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	18868874	158357061	12758006	39	4670											
STK31	56164	broad.mit.edu	37	7	23827708	23827708	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:23827708A>G	uc003sws.4	+	20	2664	c.2597A>G	c.(2596-2598)gAa>gGa	p.E866G	STK31_uc003swt.4_Missense_Mutation_p.E843G|STK31_uc011jze.2_Missense_Mutation_p.E866G|STK31_uc010kuq.3_Missense_Mutation_p.E843G|STK31_uc003swv.1_Missense_Mutation_p.E32G	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	866	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAACCGTGAACAAGGAATT	0.353													G	23827708	A	G	23827708	3	3	72	1	0	0	0	0	1	0	0	0	15295	246	9	4	2679	4	STK31	7	23827708	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08		23827708	135310955	40	4671											
C7orf10	79783	broad.mit.edu	37	7	40356417	40356417	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:40356417G>A	uc022acd.1	+	8	824	c.800G>A	c.(799-801)cGt>cAt	p.R267H	C7orf10_uc003thn.2_Missense_Mutation_p.R267H|C7orf10_uc003tho.2_Missense_Mutation_p.R219H	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	267							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGCAAAACGTTGGGGTACA	0.388													A	40356417	G	A	40356417	3	1	72	1	0	0	0	0	1	0	0	0	2376	1145	40	1	723	1	C7orf10	7	40356417	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	16528709	40356417	118782246	41	4672											
MUC17	140453	broad.mit.edu	37	7	100679249	100679249	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:100679249A>G	uc003uxp.1	+	2	4605	c.4552A>G	c.(4552-4554)Agt>Ggt	p.S1518G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1518	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					TGCATTAACAAGTATACCTGT	0.483													G	100679249	A	G	100679249	3	3	72	1	0	0	0	0	1	0	0	0	9974	72	3	4	4562	4	MUC17	7	100679249	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	60322832	100679249	58459414	42	4673											
KCNU1	157855	broad.mit.edu	37	8	36768588	36768588	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:36768588C>T	uc010lvw.3	+	21	2559	c.2472C>T	c.(2470-2472)atC>atT	p.I824I	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	824						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTCACCATCGGATCCTTGC	0.512													T	36768588	C	T	36768588	2	4	72	1	0	0	0	0	0	0	0	1	8093	874	31	2		2	KCNU1	8	36768588	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08		36768588	109595434	43	4674											
ST18	9705	broad.mit.edu	37	8	53085003	53085003	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:53085003C>T	uc003xqz.2	-	4	574	c.418G>A	c.(418-420)Gta>Ata	p.V140I	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.V105I|ST18_uc011lds.1_Missense_Mutation_p.V45I|ST18_uc003xra.2_Missense_Mutation_p.V140I|ST18_uc003xrb.2_Missense_Mutation_p.V140I	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	140						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGAACAGATACATTTTTTTCA	0.383													T	53085003	C	T	53085003	3	4	72	1	0	0	0	0	1	0	0	0	15211	478	17	3	2793	3	ST18	8	53085003	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	16316415	53085003	93279019	44	4675											
NSMAF	8439	broad.mit.edu	37	8	59548070	59548070	+	Missense_Mutation	SNP	G	G	A	rs35436008		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:59548070G>A	uc011lee.2	-	2	339	c.278C>T	c.(277-279)tCg>tTg	p.S93L	NSMAF_uc003xtt.3_Missense_Mutation_p.S62L	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	62					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AAAAATCACCGATTTTGAACA	0.323													A	59548070	G	A	59548070	3	1	72	1	0	0	0	0	1	0	0	0	10674	1059	37	2	2684	2	NSMAF	8	59548070	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	6463067	59548070	86815952	45	4676											
SLCO5A1	81796	broad.mit.edu	37	8	70744273	70744273	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:70744273G>A	uc003xyl.3	-	1	1343	c.636C>T	c.(634-636)ttC>ttT	p.F212F	SLCO5A1_uc010lzb.3_Silent_p.F212F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.F212F|SLCO5A1_uc010lzc.2_Silent_p.F212F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane	transporter activity	p.L211I(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)			GAGGTAAGGCGAAGAGGGCTG	0.662													A	70744273	G	A	70744273	2	1	72	1	0	0	0	0	0	0	0	1	14731	1049	37	2		2	SLCO5A1	8	70744273	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	11196203	70744273	75619749	46	4677											
ASAP1	50807	broad.mit.edu	37	8	131414154	131414154	+	Silent	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:131414154C>A	uc003yta.2	-	1	264	c.36G>T	c.(34-36)tcG>tcT	p.S12S	ASAP1_uc011liw.2_5'UTR	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	12					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.F11L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AATCTCTCGACGAAAAACTGG	0.502													A	131414154	C	A	131414154	2	1	72	1	0	0	0	0	0	0	0	1	1010	523	19	5		5	ASAP1	8	131414154	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	60669881	131414154	14949868	47	4678											
SLC45A4	57210	broad.mit.edu	37	8	142231734	142231734	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:142231734G>A	uc003ywd.1	-	1	527	c.219C>T	c.(217-219)ctC>ctT	p.L73L	SLC45A4_uc003ywc.1_Silent_p.L73L|SLC45A4_uc010meq.1_Silent_p.L71L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	124					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCAGAGGGCGAGGATGAAGG	0.612													A	142231734	G	A	142231734	2	1	72	1	0	0	0	0	0	0	0	1	14643	1045	37	2		2	SLC45A4	8	142231734	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	10817580	142231734	4132288	48	4679											
LRRC14	9684	broad.mit.edu	37	8	145746502	145746502	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:145746502G>C	uc003zdk.2	+	3	1296	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	LRRC14_uc003zdl.2_Missense_Mutation_p.E374D	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	374										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCTGACTGAGTGTCAGCTCG	0.597													C	145746502	G	C	145746502	3	2	72	1	0	0	0	0	1	0	0	0	8968	1020	36	5	1132	5	LRRC14	8	145746502	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3514768	145746502	617520	49	4680											
GDA	9615	broad.mit.edu	37	9	74863239	74863239	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:74863239C>T	uc004air.3	+	13	1555	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	GDA_uc011lse.2_Missense_Mutation_p.P375L|GDA_uc004aiq.3_Missense_Mutation_p.P449L|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.P375L|GDA_uc004ais.3_Missense_Mutation_p.P371L	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	449					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.P449Q(3)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAGGTGGTTCCGTTTTCCAGC	0.443													T	74863239	C	T	74863239	3	4	72	1	0	0	0	0	1	0	0	0	6306	652	23	2	1400	2	GDA	9	74863239	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		74863239	66350192	50	4681											
OR13C3	138803	broad.mit.edu	37	9	107298585	107298585	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:107298585C>T	uc004bcb.1	-	0	510	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCAATACATACGCCACCTTGC	0.468													T	107298585	C	T	107298585	2	4	72	1	0	0	0	0	0	0	0	1	10935	523	19	1		1	OR13C3	9	107298585	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	32435346	107298585	33914846	51	4682											
SVIL	6840	broad.mit.edu	37	10	29776136	29776136	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:29776136A>G	uc001iut.1	-	23	5194	c.4441T>C	c.(4441-4443)Ttc>Ctc	p.F1481L	LOC387647_uc001iuq.1_Non-coding_Transcript|SVIL_uc010qdw.1_Missense_Mutation_p.F395L|SVIL_uc001iuu.1_Missense_Mutation_p.F1055L|SVIL_uc009xlc.2_Missense_Mutation_p.F273L	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1481	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCCACAGGAAGCAGCAGTGG	0.517													G	29776136	A	G	29776136	3	3	72	1	0	0	0	0	1	0	0	0	15418	72	3	4	2263	4	SVIL	10	29776136	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08		29776136	105758611	52	4683											
C10orf71	118461	broad.mit.edu	37	10	50532018	50532018	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:50532018C>T	uc021pqb.1	+	0	1428	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	C10orf71_uc021pqa.1_Silent_p.N475N|C10orf71_uc021pqc.1_Silent_p.N476N	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	476										endometrium(1)	1						GACAGCTAAACGGATACCAAG	0.572													T	50532018	C	T	50532018	2	4	72	1	0	0	0	0	0	0	0	1	1614	535	19	1		1	C10orf71	10	50532018	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	20755882	50532018	85002729	53	4684											
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	72	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	39185654	89717672	45817075	54	4685											
MICAL2	9645	broad.mit.edu	37	11	12244171	12244171	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:12244171C>A	uc001mjz.3	+	10	1618	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I	MICAL2_uc010rch.1_Missense_Mutation_p.L444I|MICAL2_uc001mka.3_Missense_Mutation_p.L444I|MICAL2_uc010rci.2_Missense_Mutation_p.L444I|MICAL2_uc001mkb.3_Missense_Mutation_p.L444I|MICAL2_uc001mkc.3_Missense_Mutation_p.L444I|MICAL2_uc001mkd.3_Missense_Mutation_p.L273I|MICAL2_uc010rcj.2_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	444						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGGGAAAGTCTCTACCGGCT	0.567													A	12244171	C	A	12244171	3	1	72	1	0	0	0	0	1	0	0	0	9570	913	32	5	1364	5	MICAL2	11	12244171	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		12244171	122762345	55	4686											
OR5M10	390167	broad.mit.edu	37	11	56344526	56344526	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:56344526C>T	uc001niz.1	-	0	672	c.672G>A	c.(670-672)gcG>gcA	p.A224A	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCCTGAAGATCGCTGCAAAAA	0.443													T	56344526	C	T	56344526	2	4	72	1	0	0	0	0	0	0	0	1	11173	871	31	2		2	OR5M10	11	56344526	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	44100355	56344526	78661990	56	4687											
SLC22A10	387775	broad.mit.edu	37	11	63072232	63072232	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:63072232C>T	uc009yor.3	+	8	1677	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	490						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGACCTTAACGGTATTTTTT	0.423													T	63072232	C	T	63072232	3	4	72	1	0	0	0	0	1	0	0	0	14441	536	19	1	1503	1	SLC22A10	11	63072232	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	6727706	63072232	71934284	57	4688											
GRM5	2915	broad.mit.edu	37	11	88242179	88242179	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:88242179C>G	uc001pcq.3	-	8	3420	c.3220G>C	c.(3220-3222)Gag>Cag	p.E1074Q	GRM5_uc009yvm.3_Missense_Mutation_p.E1042Q	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	1074					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGTTGAGCTCGCTGATGTTG	0.667													G	88242179	C	G	88242179	3	3	72	1	0	0	0	0	1	0	0	0	6800	893	31	5	422	5	GRM5	11	88242179	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	25169947	88242179	46764337	58	4689											
MAML2	84441	broad.mit.edu	37	11	96075000	96075000	+	Silent	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:96075000C>G	uc001pfw.1	-	0	1345	c.60G>C	c.(58-60)gcG>gcC	p.A20A		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	20					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAAGGAGCCCCGCCCCAGAGG	0.682			T	"MECT1, CRTC3"	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	96075000	C	G	96075000	2	3	72	1	0	0	0	0	0	0	0	1	9206	639	23	5		5	MAML2	11	96075000	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	7832821	96075000	38931516	59	4690											
PGR	5241	broad.mit.edu	37	11	100996783	100996783	+	Missense_Mutation	SNP	G	G	A	rs144880156		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:100996783G>A	uc001pgh.2	-	1	2487	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	PGR_uc001pgi.2_Missense_Mutation_p.L582F|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	582					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCACAGGTAAGGACACCATAA	0.443													A	100996783	G	A	100996783	3	1	72	1	0	0	0	0	1	0	0	0	11805	1000	35	3	1085	3	PGR	11	100996783	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	4921783	100996783	34009733	60	4691											
ELMOD1	55531	broad.mit.edu	37	11	107501263	107501263	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:107501263G>A	uc010rvs.2	+	2	542	c.138G>A	c.(136-138)ccG>ccA	p.P46P	ELMOD1_uc001pjm.3_Silent_p.P46P|ELMOD1_uc010rvt.2_Silent_p.P40P	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	46					phagocytosis	cytoskeleton	GTPase activator activity	p.K45N(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATACCAAGCCGGGAGCTTCTA	0.398													A	107501263	G	A	107501263	2	1	72	1	0	0	0	0	0	0	0	1	5068	1103	39	2		2	ELMOD1	11	107501263	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	6504480	107501263	27505253	61	4692											
C11orf65	160140	broad.mit.edu	37	11	108302504	108302504	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:108302504C>T	uc001pkh.3	-	2	213	c.143G>A	c.(142-144)cGt>cAt	p.R48H	C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		CACTATCTGACGTGGTTCTCC	0.303													T	108302504	C	T	108302504	3	4	72	1	0	0	0	0	1	0	0	0	1655	536	19	1	826	1	C11orf65	11	108302504	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	801241	108302504	26704012	62	4693											
NTF3	4908	broad.mit.edu	37	12	5603799	5603799	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:5603799C>T	uc001qnl.4	+	0	502	c.419C>T	c.(418-420)gCg>gTg	p.A140V	NTF3_uc001qnk.4_Missense_Mutation_p.A153V	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	140					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AAACGGTACGCGGAGCATAAG	0.602													T	5603799	C	T	5603799	3	4	72	1	0	0	0	0	1	0	0	0	10696	768	27	1	464	1	NTF3	12	5603799	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		5603799	128248096	63	4694											
GPR162	10536	broad.mit.edu	37	12	6946946	6946946	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:6946946T>A	uc001qra.1	+	12	1793	c.1759T>A	c.(1759-1761)Tgc>Agc	p.C587S	GPR162_uc001qrb.1_Missense_Mutation_p.C395S|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CGCAGACAACTGCGTCCTGGA	0.642													A	6946946	T	A	6946946	3	1	72	1	0	0	0	0	1	0	0	0	6666	1580	55	5		5	GPR162	12	6946946	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	1343147	6946946	126904949	64	4695											
CCDC91	55297	broad.mit.edu	37	12	28459762	28459762	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:28459762G>A	uc001riq.3	+	3	369	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	CCDC91_uc001rio.3_Missense_Mutation_p.V89M|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.V119M|CCDC91_uc009zjl.3_5'UTR	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	119					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AATTGCCCTTGTGGATGATTC	0.358													A	28459762	G	A	28459762	3	1	72	1	0	0	0	0	1	0	0	0	2870	1377	48	3	369	3	CCDC91	12	28459762	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	21512816	28459762	105392133	65	4696											
SP7	121340	broad.mit.edu	37	12	53722081	53722081	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:53722081C>G	uc001sct.3	-	1	1252	c.1145G>C	c.(1144-1146)gGt>gCt	p.G382A	SP7_uc001scv.3_Missense_Mutation_p.G382A|SP7_uc001scu.3_Missense_Mutation_p.G364A	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGGAGGGGGACCCGGGCCTGG	0.672											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	53722081	C	G	53722081	3	3	72	1	0	0	0	0	1	0	0	0	14969	507	18	5	154	5	SP7	12	53722081	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	25262319	53722081	80129814	66	4697											
KSR2	283455	broad.mit.edu	37	12	117977618	117977618	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:117977618C>T	uc001two.2	-	9	1561	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	531					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTGCTGGCGAGGAGGGCG	0.627													T	117977618	C	T	117977618	2	4	72	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	117977618	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	64255537	117977618	15874277	67	4698											
FLT1	2321	broad.mit.edu	37	13	28971149	28971149	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:28971149T>C	uc001usb.3	-	11	1893	c.1608A>G	c.(1606-1608)atA>atG	p.I536M	FLT1_uc010aar.1_Missense_Mutation_p.I536M|FLT1_uc001usc.3_Missense_Mutation_p.I536M|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Missense_Mutation_p.I19M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	536	Ig-like C2-type 5.				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			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)	TATTGGAAGCTATGCAAATGT	0.413													C	28971149	T	C	28971149	3	2	72	1	0	0	0	0	1	0	0	0	5941	1512	53	4	2669	4	FLT1	13	28971149	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08		28971149	86198729	68	4699											
BRCA2	675	broad.mit.edu	37	13	32937431	32937431	+	Missense_Mutation	SNP	G	G	A	rs80359052	by1000genomes	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:32937431G>A	uc001uub.1	+	17	8319	c.8092G>A	c.(8092-8094)Gca>Aca	p.A2698T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2698					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S2697fs*31(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCATTGAGCGCAAATATATC	0.378			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32937431	G	A	32937431	3	1	72	1	0	0	0	0	1	0	0	0	1499	1087	38	1	8158	1	BRCA2	13	32937431	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3966282	32937431	82232447	69	4700											
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Nonsense_Mutation	SNP	C	C	T	rs3092891		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:48953730C>T	uc001vcb.3	+	14	1499	c.1333_splice	c.e14-1	p.R445_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTGTAGCGATACAAACT	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48953730	C	T	48953730	4	4	72	1	0	0	0	0	0	1	0	0	13098	782	27	1	1387	1	RB1	13	48953730	Nonsense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	16016299	48953730	66216148	70	4701											
IPO5	3843	broad.mit.edu	37	13	98641352	98641352	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:98641352A>T	uc001vne.3	+	6	635	c.455A>T	c.(454-456)aAg>aTg	p.K152M	IPO5_uc001vnf.1_Missense_Mutation_p.K134M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.K74M	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	134					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGGTTTGAAGTTCCTTTTT	0.383													T	98641352	A	T	98641352	3	4	72	1	0	0	0	0	1	0	0	0	7796	72	3	5	473	5	IPO5	13	98641352	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	49687622	98641352	16528526	71	4702											
SLC22A17	51310	broad.mit.edu	37	14	23820969	23820969	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:23820969G>A	uc001wjl.3	-	1	600	c.363C>T	c.(361-363)ccC>ccT	p.P121P	SLC22A17_uc010akk.3_5'UTR|SLC22A17_uc001wjm.3_Silent_p.P121P|SLC22A17_uc001wjn.3_Intron|SLC22A17_uc010akl.1_Silent_p.P121P	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	121					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCTGTCTGCGGGGTAACCCA	0.617													A	23820969	G	A	23820969	2	1	72	1	0	0	0	0	0	0	0	1	14448	1103	39	2		2	SLC22A17	14	23820969	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08		23820969	83528571	72	4703											
FSCB	84075	broad.mit.edu	37	14	44975096	44975096	+	Silent	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:44975096A>G	uc001wvn.3	-	0	1404	c.1095T>C	c.(1093-1095)gcT>gcC	p.A365A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	365	Pro-rich.					cilium				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)		GCAGAATTTCAGCAGGAGGCT	0.493													G	44975096	A	G	44975096	2	3	72	1	0	0	0	0	0	0	0	1	6066	175	7	4		4	FSCB	14	44975096	Silent	SNP	A	TCGA-06-0939-01A-01D-1353-08	21154127	44975096	62374444	73	4704											
PCNX	22990	broad.mit.edu	37	14	71444226	71444226	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:71444226G>A	uc001xmo.2	+	5	1618	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	PCNX_uc001xmn.4_Missense_Mutation_p.R391Q|PCNX_uc010are.1_Missense_Mutation_p.R391Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	391						integral to membrane		p.R391P(2)		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	0.498													A	71444226	G	A	71444226	3	1	72	1	0	0	0	0	1	0	0	0	11591	1116	39	2	1194	2	PCNX	14	71444226	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	26469130	71444226	35905314	74	4705											
ESRRB	2103	broad.mit.edu	37	14	76964704	76964704	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:76964704C>T	uc001xsr.3	+	8	1576	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.T402M	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	402						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTGCGGCAGACGGCCGCCAAG	0.627													T	76964704	C	T	76964704	3	4	72	1	0	0	0	0	1	0	0	0	5261	536	19	1	1227	1	ESRRB	14	76964704	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	5520478	76964704	30384836	75	4706											
BCL11B	64919	broad.mit.edu	37	14	99640778	99640778	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:99640778C>T	uc001yga.3	-	3	2662	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	BCL11B_uc001ygb.3_Missense_Mutation_p.E728K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	799						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGCAGTACTCGCACGTGTCG	0.721			T	TLX3	T-ALL								T	99640778	C	T	99640778	3	4	72	1	0	0	0	0	1	0	0	0	1364	893	31	2	293	2	BCL11B	14	99640778	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	22676074	99640778	7708762	76	4707											
FAM82A2	55177	broad.mit.edu	37	15	41046948	41046948	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41046948C>T	uc001zmp.1	-	1	219	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	FAM82A2_uc001zmo.1_Missense_Mutation_p.A12T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A12T	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	12					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CCCAGCCCGGCACGGGCACCA	0.687													T	41046948	C	T	41046948	3	4	72	1	0	0	0	0	1	0	0	0	5631	710	25	3	1426	3	FAM82A2	15	41046948	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		41046948	61484444	77	4708											
SPINT1	6692	broad.mit.edu	37	15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41146113C>T	uc001zna.3	+	4	1151	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	316						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													T	41146113	C	T	41146113	3	4	72	1	0	0	0	0	1	0	0	0	15067	768	27	1	961	1	SPINT1	15	41146113	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	99165	41146113	61385279	78	4709											
TP53BP1	7158	broad.mit.edu	37	15	43748820	43748820	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:43748820C>T	uc001zrs.3	-	11	2119	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	TP53BP1_uc010udp.2_Silent_p.E657E|TP53BP1_uc001zrq.4_Silent_p.E662E|TP53BP1_uc001zrr.4_Silent_p.E662E|TP53BP1_uc010udq.1_Silent_p.E662E	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	657					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGAAGACCCCTCCTCTGGAT	0.483								Other conserved DNA damage response genes					T	43748820	C	T	43748820	2	4	72	1	0	0	0	0	0	0	0	1	16380	680	24	3		3	TP53BP1	15	43748820	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	2602707	43748820	58782572	79	4710											
ADAMTS18	170692	broad.mit.edu	37	16	77401546	77401546	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr16:77401546G>T	uc002ffc.4	-	3	989	c.570C>A	c.(568-570)aaC>aaA	p.N190K	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	190					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						GGGAGCTGTAGTTGTGTTCCT	0.502													T	77401546	G	T	77401546	3	4	72	1	0	0	0	0	1	0	0	0	263	1020	36	5	3175	5	ADAMTS18	16	77401546	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		77401546	12953207	80	4711											
OR1E2	8388	broad.mit.edu	37	17	3336801	3336801	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3336801C>T	uc010vre.2	-	0	335	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	112					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AAGGAGGAAGCTCTCTAGATC	0.522													T	3336801	C	T	3336801	3	4	72	1	0	0	0	0	1	0	0	0	10955	797	28	3	639	3	OR1E2	17	3336801	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		3336801	77858409	81	4712											
TRPV1	7442	broad.mit.edu	37	17	3486725	3486725	+	Splice_Site	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3486725C>G	uc010vro.2	-	9	1450	c.1417_splice	c.e9-1	p.P473_splice	TRPV1_uc010vrp.2_Splice_Site_p.P402_splice|TRPV1_uc010vrq.2_Splice_Site_p.P460_splice|TRPV1_uc010vrr.2_Splice_Site_p.P462_splice|TRPV1_uc010vrs.2_Splice_Site_p.P462_splice|TRPV1_uc010vrt.2_Splice_Site_p.P462_splice|TRPV1_uc010vru.2_Splice_Site_p.P462_splice	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	462					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TAAAGGGAGGCTGTGAGATGC	0.473													G	3486725	C	G	3486725	5	3	72	1	0	0	0	0	0	0	1	0	16592	811	28	5	841	5	TRPV1	17	3486725	Splice_Site	SNP	C	TCGA-06-0939-01A-01D-1353-08	149924	3486725	77708485	82	4713											
PLXDC1	57125	broad.mit.edu	37	17	37295949	37295949	+	Silent	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:37295949G>T	uc002hrg.2	-	1	425	c.213C>A	c.(211-213)acC>acA	p.T71T	PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	71					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATGGCCAGGGTGCCCCCAC	0.672													T	37295949	G	T	37295949	2	4	72	1	0	0	0	0	0	0	0	1	12117	1219	43	5		5	PLXDC1	17	37295949	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	33809224	37295949	43899261	83	4714											
KRT13	3860	broad.mit.edu	37	17	39661434	39661434	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:39661434G>A	uc002hwu.1	-	0	432	c.369C>T	c.(367-369)cgC>cgT	p.R123R	KRT13_uc002hwv.1_Silent_p.R123R|KRT13_uc010wfr.2_Silent_p.R16R|KRT13_uc010cxo.3_Silent_p.R123R|KRT13_uc021txk.1_Silent_p.R16R	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	123	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCTCCAGGGCGCGCACCTTCT	0.597													A	39661434	G	A	39661434	2	1	72	1	0	0	0	0	0	0	0	1	8450	1074	38	1		1	KRT13	17	39661434	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	2365485	39661434	41533776	84	4715											
HLF	3131	broad.mit.edu	37	17	53398080	53398080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:53398080G>A	uc002iug.1	+	3	1253	c.728G>A	c.(727-729)cGc>cAc	p.R243H	HLF_uc010dce.1_Missense_Mutation_p.R158H|HLF_uc002iuh.2_Missense_Mutation_p.R158H|HLF_uc010wni.1_Missense_Mutation_p.R190H	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	243					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						AAGCGCTCCCGCGACGCCCGG	0.547			T	TCF3	ALL								A	53398080	G	A	53398080	3	1	72	1	0	0	0	0	1	0	0	0	7214	1087	38	1	742	1	HLF	17	53398080	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	13736646	53398080	27797130	85	4716											
TLK2	11011	broad.mit.edu	37	17	60679467	60679467	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:60679467G>A	uc010ddp.3	+	19	2119	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	TLK2_uc002izx.4_Silent_p.S443S|TLK2_uc002izz.4_Silent_p.S595S|TLK2_uc002jaa.4_Silent_p.S563S|TLK2_uc010wpd.2_Silent_p.S563S	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	617	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGTCTTTCGAAGATCATGG	0.383													A	60679467	G	A	60679467	2	1	72	1	0	0	0	0	0	0	0	1	15941	1045	37	2		2	TLK2	17	60679467	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	7281387	60679467	20515743	86	4717											
ABCA10	10349	broad.mit.edu	37	17	67181653	67181653	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:67181653G>A	uc010dfa.1	-	20	3341	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.T422M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	821					transport	integral to membrane	ATP binding|ATPase activity	p.K820N(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)					GGTAAGAGGCGTCTTCGGGAT	0.363													A	67181653	G	A	67181653	3	1	72	1	0	0	0	0	1	0	0	0	29	1145	40	1	2249	1	ABCA10	17	67181653	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	6502186	67181653	14013557	87	4718											
P4HB	5034	broad.mit.edu	37	17	79804920	79804920	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:79804920A>C	uc002kbn.1	-	5	955	c.758T>G	c.(757-759)aTc>aGc	p.I253S	P4HB_uc002kbl.1_Intron|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	253					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GTGAGTCTTGATTTCACCTCC	0.468													C	79804920	A	C	79804920	3	2	72	1	0	0	0	0	1	0	0	0	11359	333	12	5	792	5	P4HB	17	79804920	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	12623267	79804920	1390290	88	4719											
LAMA3	3909	broad.mit.edu	37	18	21492813	21492813	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr18:21492813A>G	uc002kuq.3	+	55	7383	c.7297A>G	c.(7297-7299)Aat>Gat	p.N2433D	LAMA3_uc002kur.3_Missense_Mutation_p.N2377D|LAMA3_uc002kus.4_Missense_Mutation_p.N824D|LAMA3_uc002kut.4_Missense_Mutation_p.N768D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2433	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTACTGAGAATATGTTTGT	0.398													G	21492813	A	G	21492813	3	3	72	1	0	0	0	0	1	0	0	0	8607	246	9	4	7694	4	LAMA3	18	21492813	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08		21492813	56584435	89	4720											
CATSPERG	57828	broad.mit.edu	37	19	38851477	38851477	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:38851477G>A	uc002oih.4	+	15	1961	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	CATSPERG_uc002oig.4_Missense_Mutation_p.R585Q|CATSPERG_uc002oif.4_Missense_Mutation_p.R265Q|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	625					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.T625T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GACTTGGAGCGGAAAGGGTGA	0.572													A	38851477	G	A	38851477	3	1	72	1	0	0	0	0	1	0	0	0	2692	1116	39	2	1932	2	CATSPERG	19	38851477	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		38851477	20277506	90	4721											
ZNF780A	284323	broad.mit.edu	37	19	40580618	40580618	+	Silent	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:40580618T>C	uc010xvh.2	-	5	1882	c.1734A>G	c.(1732-1734)aaA>aaG	p.K578K	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.K577K|ZNF780A_uc002omz.3_Silent_p.K577K	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAGTATGCAATTTCTGATGTC	0.388													C	40580618	T	C	40580618	2	2	72	1	0	0	0	0	0	0	0	1	18149	1490	52	4		4	ZNF780A	19	40580618	Silent	SNP	T	TCGA-06-0939-01A-01D-1353-08	1729141	40580618	18548365	91	4722											
PPFIA3	8541	broad.mit.edu	37	19	49633717	49633717	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:49633717C>G	uc002pmr.3	+	6	1072	c.740C>G	c.(739-741)gCc>gGc	p.A247G	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.A171G|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.A115G	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	247						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGGCAGCGCGCCGAGGTGTGC	0.692													G	49633717	C	G	49633717	3	3	72	1	0	0	0	0	1	0	0	0	12311	739	26	5	762	5	PPFIA3	19	49633717	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	9053099	49633717	9495266	92	4723											
ZNF544	27300	broad.mit.edu	37	19	58772416	58772416	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:58772416G>C	uc010euo.3	+	6	918	c.444G>C	c.(442-444)gaG>gaC	p.E148D	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.E120D|ZNF544_uc010yhy.2_Missense_Mutation_p.E120D|ZNF544_uc002qrt.4_Missense_Mutation_p.E6D|ZNF544_uc002qru.4_Missense_Mutation_p.E6D|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCACCTCAGAGAGACTGTTTG	0.448													C	58772416	G	C	58772416	3	2	72	1	0	0	0	0	1	0	0	0	17974	933	33	5	458	5	ZNF544	19	58772416	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	9138699	58772416	356567	93	4724											
MYH7B	57644	broad.mit.edu	37	20	33586908	33586908	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:33586908G>A	uc002xbi.2	+	35	4683	c.4366G>A	c.(4366-4368)Gcc>Acc	p.A1456T		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1414						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGTGGAGGCTGCCAACGCCAA	0.607													A	33586908	G	A	33586908	3	1	72	1	0	0	0	0	1	0	0	0	10040	1319	46	3	4500	3	MYH7B	20	33586908	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		33586908	29438612	94	4725											
SALL4	57167	broad.mit.edu	37	20	50407987	50407987	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:50407987C>T	uc002xwh.4	-	1	1136	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	SALL4_uc010gii.3_Silent_p.Q345Q|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	345					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAGGGCTCTGGAAGAGCA	0.632													T	50407987	C	T	50407987	2	4	72	1	0	0	0	0	0	0	0	1	13813	912	32	3		3	SALL4	20	50407987	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	16821079	50407987	12617533	95	4726											
COL20A1	57642	broad.mit.edu	37	20	61942767	61942767	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:61942767C>T	uc011aau.2	+	11	1515	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	COL20A1_uc011aav.2_Missense_Mutation_p.A293V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	472	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity	p.R471L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCGCCCCGGGCGCTGACCCTG	0.687													T	61942767	C	T	61942767	3	4	72	1	0	0	0	0	1	0	0	0	3679	768	27	1	1457	1	COL20A1	20	61942767	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	11534780	61942767	1082753	96	4727											
CCT8L2	150160	broad.mit.edu	37	22	17072541	17072541	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:17072541G>A	uc002zlp.1	-	0	1160	c.900C>T	c.(898-900)gaC>gaT	p.D300D		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	300					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			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)				GGGTCTCCTCGTCGACCTCCC	0.493													A	17072541	G	A	17072541	2	1	72	1	0	0	0	0	0	0	0	1	2961	1136	40	1		1	CCT8L2	22	17072541	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08		17072541	34232025	97	4728											
PARVG	64098	broad.mit.edu	37	22	44586519	44586519	+	Silent	SNP	C	C	T	rs3842780	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:44586519C>T	uc011aqe.2	+	6	901	c.477C>T	c.(475-477)aaC>aaT	p.N159N	PARVG_uc003bep.3_Silent_p.N159N|PARVG_uc011aqf.2_Silent_p.N159N|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	159					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCCAACCAACGTCCAGGTGG	0.602													T	44586519	C	T	44586519	2	4	72	1	0	0	0	0	0	0	0	1	11470	535	19	1		1	PARVG	22	44586519	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	27513978	44586519	6718047	98	4729											
FIGF	2277	broad.mit.edu	37	X	15364311	15364311	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:15364311G>A	uc004cwt.2	-	6	1476	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	337					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTTGGAAAGCGGCAATGCTTT	0.478													A	15364311	G	A	15364311	3	1	72	1	0	0	0	0	1	0	0	0	5889	1116	39	2	59	2	FIGF	23	15364311	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		15364311	139906249	99	4730											
PTCHD1	139411	broad.mit.edu	37	X	23397772	23397772	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:23397772T>C	uc004dal.4	+	1	424	c.416T>C	c.(415-417)aTa>aCa	p.I139T	PTCHD1_uc010nfu.2_Missense_Mutation_p.I139T	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	139					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTGCCCATATATGTATCCTG	0.433													C	23397772	T	C	23397772	3	2	72	1	0	0	0	0	1	0	0	0	12732	1406	49	4	422	4	PTCHD1	23	23397772	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	8033461	23397772	131872788	100	4731											
CYBB	1536	broad.mit.edu	37	X	37665738	37665738	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:37665738C>T	uc004ddr.2	+	10	1474	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A	CYBB_uc011mkf.1_Silent_p.A439A|CYBB_uc011mkg.1_Silent_p.A204A	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	471					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GGAACAATGCCGGCTTCCTCA	0.527													T	37665738	C	T	37665738	2	4	72	1	0	0	0	0	0	0	0	1	4133	639	23	2		2	CYBB	23	37665738	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	14267966	37665738	117604822	101	4732											
PAGE1	8712	broad.mit.edu	37	X	49455937	49455937	+	Silent	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:49455937T>C	uc004dom.3	-	3	340	c.207A>G	c.(205-207)ccA>ccG	p.P69P		NM_003785	NP_003776	O75459	GAGB1_HUMAN	Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.	69					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					ACCCAGTCTTTGGCTGAACCA	0.438													C	49455937	T	C	49455937	2	2	72	1	0	0	0	0	0	0	0	1	11389	1799	63	4		4	PAGE1	23	49455937	Silent	SNP	T	TCGA-06-0939-01A-01D-1353-08	11790199	49455937	105814623	102	4733											
FOXR2	139628	broad.mit.edu	37	X	55650496	55650496	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:55650496G>A	uc004duo.3	+	0	664	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	118					embryo development|organ development|pattern specification process|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAAAAAGACGAAGGGTCTAA	0.527													A	55650496	G	A	55650496	3	1	72	1	0	0	0	0	1	0	0	0	6032	1059	37	2	354	2	FOXR2	23	55650496	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	6194559	55650496	99620064	103	4734											
SLC7A3	84889	broad.mit.edu	37	X	70148360	70148360	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:70148360T>C	uc004dyn.3	-	3	827	c.653A>G	c.(652-654)aAg>aGg	p.K218R	SLC7A3_uc004dyo.3_Missense_Mutation_p.K218R	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	218					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTGTGAGCTTCCAGTTGTG	0.507													C	70148360	T	C	70148360	3	2	72	1	0	0	0	0	1	0	0	0	14698	1609	56	4	1242	4	SLC7A3	23	70148360	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	14497864	70148360	85122200	104	4735											
ZCCHC5	203430	broad.mit.edu	37	X	77912605	77912605	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:77912605C>T	uc022bzi.1	-	0	1313	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	ZCCHC5_uc004edc.1_Missense_Mutation_p.R438H	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	438							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGTGCCAACGGACCCATTC	0.547													T	77912605	C	T	77912605	3	4	72	1	0	0	0	0	1	0	0	0	17588	536	19	1	118	1	ZCCHC5	23	77912605	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	7764245	77912605	77357955	105	4736											
RNF113A	7737	broad.mit.edu	37	X	119005259	119005259	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:119005259C>T	uc004esb.3	-	0	533	c.318G>A	c.(316-318)gcG>gcA	p.A106A	NDUFA1_uc004esc.4_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	Homo sapiens ring finger protein 113A (RNF113A), mRNA.	106							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CCACGGGTTTCGCCGAACGGG	0.552													T	119005259	C	T	119005259	2	4	72	1	0	0	0	0	0	0	0	1	13427	871	31	2		2	RNF113A	23	119005259	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	41092654	119005259	36265301	106	4737											
ENOX2	10495	broad.mit.edu	37	X	129759313	129759313	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:129759313C>A	uc004evw.3	-	15	2226	c.1808G>T	c.(1807-1809)gGc>gTc	p.G603V	ENOX2_uc004evx.3_Missense_Mutation_p.G574V|ENOX2_uc004evy.3_Missense_Mutation_p.G574V|ENOX2_uc004evv.3_Missense_Mutation_p.G428V	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	603					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCCCTCGAAGCCACAGAATTT	0.438													A	129759313	C	A	129759313	3	1	72	1	0	0	0	0	1	0	0	0	5127	739	26	5	28	5	ENOX2	23	129759313	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	10754054	129759313	25511247	107	4738											
SLITRK2	84631	broad.mit.edu	37	X	144904765	144904765	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:144904765G>A	uc022cfn.1	+	0	822	c.822G>A	c.(820-822)agG>agA	p.R274R	SLITRK2_uc004fcd.3_Silent_p.R274R|SLITRK2_uc010nsp.3_Silent_p.R274R|SLITRK2_uc010nso.3_Silent_p.R274R|SLITRK2_uc011mwq.2_Silent_p.R274R|SLITRK2_uc011mwr.2_Silent_p.R274R|SLITRK2_uc011mws.2_Silent_p.R274R|SLITRK2_uc004fcg.3_Silent_p.R274R|SLITRK2_uc011mwt.2_Silent_p.R274R	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	274						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTCAGAGGGGCAGCCATG	0.557													A	144904765	G	A	144904765	2	1	72	1	0	0	0	0	0	0	0	1	14743	1223	43	3		3	SLITRK2	23	144904765	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	15145452	144904765	10365795	108	4739											
MTM1	4534	broad.mit.edu	37	X	149832009	149832009	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:149832009C>T	uc004fef.4	+	13	1647	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.P487L|MTM1_uc011mxz.2_Missense_Mutation_p.P409L|MTM1_uc010nte.3_Missense_Mutation_p.P392L	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	524	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTATATCCAGTTGCCAGT	0.358													T	149832009	C	T	149832009	3	4	72	1	0	0	0	0	1	0	0	0	9937	594	21	3	1621	3	MTM1	23	149832009	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	4927244	149832009	5438551	109	4740											
HCFC1	3054	broad.mit.edu	37	X	153229664	153229664	+	Silent	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:153229664G>T	uc004fjp.3	-	2	942	c.414C>A	c.(412-414)ctC>ctA	p.L138L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	138					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGTGCCCGAGTCGAGGAC	0.562													T	153229664	G	T	153229664	2	4	72	1	0	0	0	0	0	0	0	1	6991	1045	37	5		5	HCFC1	23	153229664	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	3397655	153229664	2040896	110	4741											
ATP13A2	23400	broad.mit.edu	37	1	17316634	17316634	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:17316634C>T	uc001baa.2	-	20	2590	c.2400G>A	c.(2398-2400)gtG>gtA	p.V800V	ATP13A2_uc001bac.2_Silent_p.V795V|ATP13A2_uc001bab.2_Silent_p.V795V	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	800					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TAACGCCATTCACGGCTGTGG	0.642													T	17316634	C	T	17316634	2	4	73	1	0	0	0	0	0	0	0	1	1124	813	29	3		3	ATP13A2	1	17316634	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08		17316634	231933987	1	4742											
TAS1R2	80834	broad.mit.edu	37	1	19166669	19166669	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:19166669G>A	uc001bba.1	-	5	1945	c.1944C>T	c.(1942-1944)atC>atT	p.I648I		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	648					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			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)	AACGCACGGCGATACAGGAGA	0.627													A	19166669	G	A	19166669	2	1	73	1	0	0	0	0	0	0	0	1	15560	1048	37	2		2	TAS1R2	1	19166669	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	1850035	19166669	230083952	2	4743											
KIF17	57576	broad.mit.edu	37	1	21009290	21009290	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:21009290G>A	uc001bdr.4	-	10	2437	c.2319C>T	c.(2317-2319)taC>taT	p.Y773Y	KIF17_uc001bdp.4_Silent_p.Y51Y|KIF17_uc009vpx.3_Silent_p.Y143Y|KIF17_uc001bds.4_Silent_p.Y773Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	773					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCTCGTCTGCGTAGCGCTTGC	0.622													A	21009290	G	A	21009290	2	1	73	1	0	0	0	0	0	0	0	1	8279	1140	40	1		1	KIF17	1	21009290	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	1842621	21009290	228241331	3	4744											
GJB4	127534	broad.mit.edu	37	1	35227336	35227336	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:35227336G>A	uc001bxw.4	+	0	481	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	GJB4_uc001bxv.1_Missense_Mutation_p.V161M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	161					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CATGCCCCGCGTGGTGGCCTG	0.582													A	35227336	G	A	35227336	3	1	73	1	0	0	0	0	1	0	0	0	6410	1145	40	1	483	1	GJB4	1	35227336	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	14218046	35227336	214023285	4	4745											
CD53	963	broad.mit.edu	37	1	111439300	111439300	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:111439300C>T	uc001dzw.3	+	6	620	c.449C>T	c.(448-450)aCg>aTg	p.T150M	CD53_uc001dzx.3_Missense_Mutation_p.T150M|CD53_uc010owa.2_Intron	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	150					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATAAATGGCACGAGTGATTGG	0.428													T	111439300	C	T	111439300	3	4	73	1	0	0	0	0	1	0	0	0	3023	536	19	1	467	1	CD53	1	111439300	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	76211964	111439300	137811321	5	4746											
SPAG17	200162	broad.mit.edu	37	1	118558655	118558655	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:118558655C>A	uc001ehk.2	-	28	4288	c.4220G>T	c.(4219-4221)gGa>gTa	p.G1407V		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1407						cilium|flagellar axoneme|microtubule				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)		TCTTTCTAATCCTTTGGTGCC	0.448													A	118558655	C	A	118558655	3	1	73	1	0	0	0	0	1	0	0	0	14979	855	30	5	2531	5	SPAG17	1	118558655	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	7119355	118558655	130691966	6	4747											
FLG	2312	broad.mit.edu	37	1	152275641	152275641	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:152275641G>A	uc001ezu.1	-	2	11757	c.11721C>T	c.(11719-11721)cgC>cgT	p.R3907R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3907	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TGGCTGTATCGCGGTGAGAGG	0.502									Ichthyosis				A	152275641	G	A	152275641	2	1	73	1	0	0	0	0	0	0	0	1	5922	1074	38	1		1	FLG	1	152275641	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	33716986	152275641	96974980	7	4748											
MUC1	4582	broad.mit.edu	37	1	155161953	155161953	+	Silent	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:155161953T>C	uc021pap.1	-	1	279	c.207A>G	c.(205-207)gtA>gtG	p.V69V	MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Intron|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Intron|MUC1_uc001fiq.3_Intron|MUC1_uc009wqa.3_Intron|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Intron|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Silent_p.V60V|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|MUC1_uc001fiv.2_Silent_p.V69V|MUC1_uc001fiw.2_Silent_p.V60V|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	842						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	p.V60V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTGGAGAGTACGCTGCTGG	0.587			T	IGH@	B-NHL								C	155161953	T	C	155161953	2	2	73	1	0	0	0	0	0	0	0	1	9970	1653	57	4		4	MUC1	1	155161953	Silent	SNP	T	TCGA-06-1804-01A-01D-1696-08	2886312	155161953	94088668	8	4749											
RIT1	6016	broad.mit.edu	37	1	155870206	155870206	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:155870206G>C	uc001fmh.1	-	5	820	c.633C>G	c.(631-633)ttC>ttG	p.F211L	RIT1_uc010pgr.1_Missense_Mutation_p.F175L	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	211					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TCTTCTTCCGGAATGGTGATT	0.423													C	155870206	G	C	155870206	3	2	73	1	0	0	0	0	1	0	0	0	13386	1165	41	5	30	5	RIT1	1	155870206	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	708253	155870206	93380415	9	4750											
IQGAP3	128239	broad.mit.edu	37	1	156503843	156503843	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:156503843G>A	uc001fpf.3	-	29	3906	c.3831C>T	c.(3829-3831)ccC>ccT	p.P1277P		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1277					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.P1277H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTACACCATGGGTTTGGCCA	0.592													A	156503843	G	A	156503843	2	1	73	1	0	0	0	0	0	0	0	1	7816	1335	47	3		3	IQGAP3	1	156503843	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	633637	156503843	92746778	10	4751											
SLAMF1	6504	broad.mit.edu	37	1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:160607074G>A	uc001fwl.4	-	1	668	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R108W	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	108					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468													A	160607074	G	A	160607074	3	1	73	1	0	0	0	0	1	0	0	0	14367	1144	40	1	709	1	SLAMF1	1	160607074	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	4103231	160607074	88643547	11	4752											
PIKFYVE	200576	broad.mit.edu	37	2	209179975	209179975	+	Missense_Mutation	SNP	C	C	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:209179975C>G	uc002vcz.3	+	14	2043	c.1885C>G	c.(1885-1887)Ctg>Gtg	p.L629V	PIKFYVE_uc010fun.1_Missense_Mutation_p.L310V|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L573V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	629					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAGTGACTCACTGTCATCATC	0.423													G	209179975	C	G	209179975	3	3	73	1	0	0	0	0	1	0	0	0	11924	564	20	5	1950	5	PIKFYVE	2	209179975	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		209179975	34019398	12	4753											
TNS1	7145	broad.mit.edu	37	2	218749762	218749762	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:218749762G>T	uc002vgt.2	-	13	1265	c.867C>A	c.(865-867)ttC>ttA	p.F289L	TNS1_uc002vgr.2_Missense_Mutation_p.F289L|TNS1_uc002vgs.2_Missense_Mutation_p.F289L|TNS1_uc010zjv.1_Missense_Mutation_p.F289L|TNS1_uc010fvj.1_Missense_Mutation_p.F357L|TNS1_uc010fvk.1_Missense_Mutation_p.F414L|TNS1_uc002vgu.3_Missense_Mutation_p.F320L|TNS1_uc010fvi.1_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	289	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			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)		GCGCACCTTTGAAAGCATCAT	0.572													T	218749762	G	T	218749762	3	4	73	1	0	0	0	0	1	0	0	0	16340	1281	45	5	4420	5	TNS1	2	218749762	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	9569787	218749762	24449611	13	4754											
ITM2C	81618	broad.mit.edu	37	2	231740464	231740464	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:231740464G>A	uc002vqz.3	+	2	511	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	ITM2C_uc002vra.3_Missense_Mutation_p.V84M|ITM2C_uc002vrb.3_Missense_Mutation_p.V131M|ITM2C_uc002vrc.3_Missense_Mutation_p.V20M|ITM2C_uc002vrd.3_Missense_Mutation_p.V20M	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	131					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCGCATCAACGTGCCTGTGCC	0.617													A	231740464	G	A	231740464	3	1	73	1	0	0	0	0	1	0	0	0	7914	1145	40	1	401	1	ITM2C	2	231740464	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	12990702	231740464	11458909	14	4755											
COL6A3	1293	broad.mit.edu	37	2	238275697	238275697	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:238275697G>C	uc002vwl.2	-	10	5418	c.5133C>G	c.(5131-5133)taC>taG	p.Y1711*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.Y1505*|COL6A3_uc010znj.1_Nonsense_Mutation_p.Y1104*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1711	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		TTCCCCCTTTGTAGACCACTT	0.557													C	238275697	G	C	238275697	4	2	73	1	0	0	0	0	0	1	0	0	3701	1372	48	5	4536	5	COL6A3	2	238275697	Nonsense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	6535233	238275697	4923676	15	4756											
ATP2B2	491	broad.mit.edu	37	3	10387071	10387071	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:10387071C>T	uc003bvt.3	-	17	3139	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	ATP2B2_uc003bvv.3_Silent_p.T855T|ATP2B2_uc003bvw.3_Silent_p.T855T|ATP2B2_uc010hdo.3_Silent_p.T605T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	900					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GACCCACCTGCGTGATGCAGG	0.627													T	10387071	C	T	10387071	2	4	73	1	0	0	0	0	0	0	0	1	1140	755	27	1		1	ATP2B2	3	10387071	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08		10387071	187635359	16	4757											
KIAA1257	57501	broad.mit.edu	37	3	128696988	128696988	+	Silent	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:128696988T>C	uc003elj.4	-	4	904	c.708A>G	c.(706-708)gaA>gaG	p.E236E	KIAA1257_uc003elg.1_Silent_p.E236E|KIAA1257_uc003eli.4_Silent_p.E124E	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358													C	128696988	T	C	128696988	2	2	73	1	0	0	0	0	0	0	0	1	8218	1722	60	4		4	KIAA1257	3	128696988	Silent	SNP	T	TCGA-06-1804-01A-01D-1696-08	118309917	128696988	69325442	17	4758											
CLDN18	51208	broad.mit.edu	37	3	137717743	137717743	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:137717743C>T	uc003ero.1	+	0	86	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTTGGGGTTCGTGGTTTCAC	0.557													T	137717743	C	T	137717743	2	4	73	1	0	0	0	0	0	0	0	1	3479	883	31	2		2	CLDN18	3	137717743	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	9020755	137717743	60304687	18	4759											
PLCH1	23007	broad.mit.edu	37	3	155203313	155203313	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:155203313C>T	uc021xge.1	-	21	3107	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	PLCH1_uc021xgd.1_Missense_Mutation_p.D944N|PLCH1_uc021xgf.1_Missense_Mutation_p.D906N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	944					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S944*(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GACACAGAATCCTTTATCTCC	0.522													T	155203313	C	T	155203313	3	4	73	1	0	0	0	0	1	0	0	0	12037	855	30	3	2274	3	PLCH1	3	155203313	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	17485570	155203313	42819117	19	4760											
PEX5L	51555	broad.mit.edu	37	3	179526143	179526143	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:179526143C>T	uc003fki.1	-	12	1565	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S	PEX5L_uc011bqd.1_Missense_Mutation_p.G436S|PEX5L_uc011bqe.1_Missense_Mutation_p.G287S|PEX5L_uc011bqf.1_Missense_Mutation_p.G371S|PEX5L_uc003fkj.1_Missense_Mutation_p.G444S|PEX5L_uc010hxd.1_Missense_Mutation_p.G477S|PEX5L_uc011bqg.1_Missense_Mutation_p.G455S|PEX5L_uc011bqh.1_Missense_Mutation_p.G420S	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	479					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACCCCTAGACCTGTCTGCAGG	0.458													T	179526143	C	T	179526143	3	4	73	1	0	0	0	0	1	0	0	0	11749	681	24	3	457	3	PEX5L	3	179526143	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	24322830	179526143	18496287	20	4761											
HTR3E	285242	broad.mit.edu	37	3	183823993	183823993	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:183823993G>A	uc010hxr.3	+	5	1275	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	HTR3E_uc010hxq.3_Missense_Mutation_p.V335M|HTR3E_uc003fml.4_Missense_Mutation_p.V320M|HTR3E_uc003fmm.3_Missense_Mutation_p.V350M|HTR3E_uc003fmn.3_Missense_Mutation_p.V335M	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	335						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCTGCTGCACGTGGCCACCAC	0.667													A	183823993	G	A	183823993	3	1	73	1	0	0	0	0	1	0	0	0	7448	1145	40	1	1074	1	HTR3E	3	183823993	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	4297850	183823993	14198437	21	4762											
UNC5C	8633	broad.mit.edu	37	4	96199412	96199412	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:96199412C>T	uc003hto.3	-	3	945	c.592G>A	c.(592-594)Gag>Aag	p.E198K	UNC5C_uc010ilc.2_Missense_Mutation_p.E198K|UNC5C_uc003htq.3_Missense_Mutation_p.E198K	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	198	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.A197D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTATTCACCTCAGCCACTGGG	0.453													T	96199412	C	T	96199412	3	4	73	1	0	0	0	0	1	0	0	0	16990	835	29	3	2255	3	UNC5C	4	96199412	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		96199412	94954864	22	4763											
ANK2	287	broad.mit.edu	37	4	114277204	114277204	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:114277204A>T	uc003ibe.4	+	37	7530	c.7430A>T	c.(7429-7431)aAg>aTg	p.K2477M	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.K2492M	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2444					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		GTTGAACCAAAGATGAAGGCT	0.502													T	114277204	A	T	114277204	3	4	73	1	0	0	0	0	1	0	0	0	621	72	3	5	7645	5	ANK2	4	114277204	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	18077792	114277204	76877072	23	4764											
IL2	3558	broad.mit.edu	37	4	123374886	123374886	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:123374886G>A	uc003ier.3	-	2	385	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	110					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		GAACTATTACGTTGATATTGC	0.353			T	TNFRSF17	intestinal T-cell lymphoma								A	123374886	G	A	123374886	2	1	73	1	0	0	0	0	0	0	0	1	7666	1136	40	1		1	IL2	4	123374886	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	9097682	123374886	67779390	24	4765											
RBM46	166863	broad.mit.edu	37	4	155719190	155719190	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:155719190C>T	uc003ioo.3	+	2	552	c.379C>T	c.(379-381)Cga>Tga	p.R127*	RBM46_uc011cim.1_Nonsense_Mutation_p.R127*|RBM46_uc003iop.1_Nonsense_Mutation_p.R127*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	127	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TTATGAAATTCGACCAGGGAA	0.338													T	155719190	C	T	155719190	4	4	73	1	0	0	0	0	0	1	0	0	13140	876	31	2	385	2	RBM46	4	155719190	Nonsense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	32344304	155719190	35435086	25	4766											
GUCY1A3	2982	broad.mit.edu	37	4	156632019	156632019	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:156632019G>A	uc003iov.3	+	6	1238	c.702G>A	c.(700-702)tcG>tcA	p.S234S	GUCY1A3_uc003iou.2_Silent_p.S234S|GUCY1A3_uc010iqc.2_Silent_p.S234S|GUCY1A3_uc010iqd.3_Silent_p.S233S|GUCY1A3_uc003iow.3_Silent_p.S234S|GUCY1A3_uc003iox.3_Silent_p.S234S|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.S234S|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.S234S	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	234					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGGAAGTGTCGTTAATGCCTC	0.468													A	156632019	G	A	156632019	2	1	73	1	0	0	0	0	0	0	0	1	6894	1132	40	1		1	GUCY1A3	4	156632019	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	912829	156632019	34522257	26	4767											
KIAA0947	23379	broad.mit.edu	37	5	5464633	5464633	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:5464633G>T	uc003jdm.4	+	12	5408	c.5186G>T	c.(5185-5187)gGc>gTc	p.G1729V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1729	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCTGTGCCTGGCCGACTCCCA	0.587													T	5464633	G	T	5464633	3	4	73	1	0	0	0	0	1	0	0	0	8202	1203	42	5	5236	5	KIAA0947	5	5464633	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		5464633	175450627	27	4768											
CDH9	1007	broad.mit.edu	37	5	26885950	26885950	+	Missense_Mutation	SNP	C	C	T	rs150128137		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:26885950C>T	uc003jgs.1	-	10	1824	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q	CDH9_uc011cnv.1_Missense_Mutation_p.R145Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	552	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R552Q(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCATCTTTCCGAGTCATGAT	0.343													T	26885950	C	T	26885950	3	4	73	1	0	0	0	0	1	0	0	0	3117	652	23	2	722	2	CDH9	5	26885950	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	21421317	26885950	154029310	28	4769											
PCDHAC2	56137	broad.mit.edu	37	5	140256671	140256671	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:140256671C>T	uc003lic.2	+	0	1741	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.R538R	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	552	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692													T	140256671	C	T	140256671	2	4	73	1	0	0	0	0	0	0	0	1	11533	755	27	1		1	PCDHAC2	5	140256671	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	113370721	140256671	40658589	29	4770											
PPP2R2B	5521	broad.mit.edu	37	5	146030195	146030195	+	Silent	SNP	A	A	T	rs146742970	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:146030195A>T	uc011dbv.2	-	6	977	c.714T>A	c.(712-714)tcT>tcA	p.S238S	PPP2R2B_uc010jgm.3_Silent_p.S169S|PPP2R2B_uc003loe.3_Silent_p.S180S|PPP2R2B_uc003log.4_Silent_p.S180S|PPP2R2B_uc003lof.4_Silent_p.S180S|PPP2R2B_uc003loi.4_Silent_p.S183S|PPP2R2B_uc003loh.4_Silent_p.S180S|PPP2R2B_uc003lok.4_Silent_p.S169S|PPP2R2B_uc003loj.4_Silent_p.S160S|PPP2R2B_uc011dbu.2_Silent_p.S186S	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	180					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGTTGACAGATATGGAGT	0.458													T	146030195	A	T	146030195	2	4	73	1	0	0	0	0	0	0	0	1	12385	175	7	5		5	PPP2R2B	5	146030195	Silent	SNP	A	TCGA-06-1804-01A-01D-1696-08	5773524	146030195	34885065	30	4771											
FAM71B	153745	broad.mit.edu	37	5	156589483	156589483	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:156589483A>G	uc003lwn.3	-	1	1893	c.1793T>C	c.(1792-1794)aTc>aCc	p.I598T		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	598						nucleus		p.I598I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCAAAGACGATCATCTCCGT	0.517													G	156589483	A	G	156589483	3	3	73	1	0	0	0	0	1	0	0	0	5608	333	12	4	28	4	FAM71B	5	156589483	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	10559288	156589483	24325777	31	4772											
ABCC10	89845	broad.mit.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:43403588C>T	uc003ouy.1	+	4	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	570						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567													T	43403588	C	T	43403588	3	4	73	1	0	0	0	0	1	0	0	0	50	643	23	2	1589	2	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		43403588	127711479	32	4773											
PKHD1	5314	broad.mit.edu	37	6	51523897	51523897	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:51523897C>T	uc003pah.1	-	60	11303	c.11027G>A	c.(11026-11028)gGa>gAa	p.G3676E		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3676					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			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)					TGAAATCATTCCAGTGCTCCT	0.403													T	51523897	C	T	51523897	3	4	73	1	0	0	0	0	1	0	0	0	11971	855	30	3	1225	3	PKHD1	6	51523897	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	8120309	51523897	119591170	33	4774											
ZNF292	23036	broad.mit.edu	37	6	87865454	87865454	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:87865454G>T	uc003plm.4	+	0	186	c.145G>T	c.(145-147)Gac>Tac	p.D49Y	ZNF292_uc003plk.3_Non-coding_Transcript|ZNF292_uc003pll.1_Missense_Mutation_p.D49Y	NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCGGCCACCGACTACTGTCA	0.726													T	87865454	G	T	87865454	3	4	73	1	0	0	0	0	1	0	0	0	17823	1058	37	5	147	5	ZNF292	6	87865454	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	36341557	87865454	83249613	34	4775											
GPR6	2830	broad.mit.edu	37	6	110300407	110300407	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:110300407C>T	uc011eav.2	+	2	381	c.137C>T	c.(136-138)cCg>cTg	p.P46L	GPR6_uc011eaw.2_Missense_Mutation_p.P31L|GPR6_uc003ptu.3_Missense_Mutation_p.P31L|GPR6_uc021zds.1_Missense_Mutation_p.P31L	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	31						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		gcaggggggccggACACGGGC	0.736													T	110300407	C	T	110300407	3	4	73	1	0	0	0	0	1	0	0	0	6701	652	23	2	94	2	GPR6	6	110300407	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	22434953	110300407	60814660	35	4776											
EGFR	1956	broad.mit.edu	37	7	55221722	55221722	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:55221722G>T	uc003tqk.3	+	6	1012	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	EGFR_uc003tqh.3_Missense_Mutation_p.D256Y|EGFR_uc003tqi.3_Missense_Mutation_p.D256Y|EGFR_uc003tqj.3_Missense_Mutation_p.D256Y|EGFR_uc022adm.1_Missense_Mutation_p.D256Y|EGFR_uc010kzg.2_Missense_Mutation_p.D211Y|EGFR_uc022adn.1_Missense_Mutation_p.D211Y|EGFR_uc011kco.2_Missense_Mutation_p.D203Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	256					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.D256A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAATTCCGAGACGAAGCCAC	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221722	G	T	55221722	3	4	73	1	0	0	0	0	1	0	0	0	4967	942	33	5	792	5	EGFR	7	55221722	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		55221722	103916941	36	4777											
MYL10	93408	broad.mit.edu	37	7	101256837	101256837	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:101256837G>A	uc003uyr.3	-	7	777	c.599C>T	c.(598-600)gCa>gTa	p.A200V		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	200	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GGGAAATGCTGCAAACATCTG	0.562													A	101256837	G	A	101256837	3	1	73	1	0	0	0	0	1	0	0	0	10044	1319	46	3	85	3	MYL10	7	101256837	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	46035115	101256837	57881826	37	4778											
PTPRZ1	5803	broad.mit.edu	37	7	121653409	121653409	+	Missense_Mutation	SNP	T	T	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:121653409T>A	uc003vjy.3	+	11	4704	c.4309T>A	c.(4309-4311)Tta>Ata	p.L1437I	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1437					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						TAGTGATGGCTTATCCATTCA	0.418													A	121653409	T	A	121653409	3	1	73	1	0	0	0	0	1	0	0	0	12814	1606	56	5	4355	5	PTPRZ1	7	121653409	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	20396572	121653409	37485254	38	4779											
UBE3C	9690	broad.mit.edu	37	7	157046771	157046771	+	Missense_Mutation	SNP	C	C	T	rs142140245		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:157046771C>T	uc010lqs.3	+	19	3130	c.2818C>T	c.(2818-2820)Cgc>Tgc	p.R940C	UBE3C_uc003wni.4_Missense_Mutation_p.R303C	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	940	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			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)		CCTGGCTTTCCGCCAGGGCCT	0.562													T	157046771	C	T	157046771	3	4	73	1	0	0	0	0	1	0	0	0	16878	652	23	2	2896	2	UBE3C	7	157046771	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	35393362	157046771	2091892	39	4780											
ADAM28	10863	broad.mit.edu	37	8	24200682	24200682	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:24200682C>A	uc003xdy.3	+	16	1982	c.1899C>A	c.(1897-1899)tgC>tgA	p.C633*	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Nonsense_Mutation_p.C320*	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	633	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CATCTAAGTGCAAAGGACATG	0.358													A	24200682	C	A	24200682	4	1	73	1	0	0	0	0	0	1	0	0	246	718	25	5	2021	5	ADAM28	8	24200682	Nonsense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		24200682	122163340	40	4781											
DOCK5	80005	broad.mit.edu	37	8	25203034	25203034	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:25203034C>T	uc003xeg.3	+	25	2798	c.2661C>T	c.(2659-2661)agC>agT	p.S887S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.S601S|DOCK5_uc003xei.3_Silent_p.S457S|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	887						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACCAGCTCAGCGGCCAGTTAG	0.557													T	25203034	C	T	25203034	2	4	73	1	0	0	0	0	0	0	0	1	4690	767	27	1		1	DOCK5	8	25203034	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	1002352	25203034	121160988	41	4782											
TGS1	96764	broad.mit.edu	37	8	56699365	56699365	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:56699365A>G	uc003xsj.4	+	3	1295	c.908A>G	c.(907-909)gAt>gGt	p.D303G	TGS1_uc010lyh.3_Missense_Mutation_p.D207G	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	303					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATTATGGTTGATAATGATAGC	0.333													G	56699365	A	G	56699365	3	3	73	1	0	0	0	0	1	0	0	0	15834	333	12	4	922	4	TGS1	8	56699365	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	31496331	56699365	89664657	42	4783											
SYBU	55638	broad.mit.edu	37	8	110588241	110588241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:110588241C>A	uc010mcp.3	-	8	1247	c.885_splice	c.e8-1	p.R295_splice	SYBU_uc003yni.4_Splice_Site_p.R292_splice|SYBU_uc003ynk.4_Splice_Site_p.R176_splice|SYBU_uc003ynj.4_Splice_Site_p.R295_splice|SYBU_uc010mco.3_Splice_Site_p.R294_splice|SYBU_uc003ynl.4_Splice_Site_p.R294_splice|SYBU_uc010mcq.3_Splice_Site_p.R295_splice|SYBU_uc003yno.4_Splice_Site_p.R176_splice|SYBU_uc010mcr.3_Splice_Site_p.R295_splice|SYBU_uc003ynm.4_Splice_Site_p.R294_splice|SYBU_uc003ynn.4_Splice_Site_p.R294_splice|SYBU_uc010mcs.3_Splice_Site_p.R176_splice|SYBU_uc010mct.3_Splice_Site_p.R295_splice|SYBU_uc010mcu.3_Splice_Site_p.R294_splice|SYBU_uc003ynp.4_Splice_Site_p.R227_splice|SYBU_uc010mcv.3_Splice_Site_p.R295_splice|SYBU_uc003ynh.4_Splice_Site_p.R89_splice|SYBU_uc011lhw.2_Splice_Site_p.R165_splice	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	295	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATTTCACTTTCCCTAGAGTGC	0.463													A	110588241	C	A	110588241	4	1	73	1	0	0	0	0	0	1	0	0	15424	869	30	5	1109	5	SYBU	8	110588241	Nonsense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	53888876	110588241	35775781	43	4784											
RFX3	5991	broad.mit.edu	37	9	3225104	3225104	+	Missense_Mutation	SNP	C	C	T	rs137899630	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:3225104C>T	uc003zhr.3	-	17	2500	c.2188G>A	c.(2188-2190)Gtc>Atc	p.V730I	RFX3_uc010mhd.3_Missense_Mutation_p.V730I	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	730					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			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)		GTACTTGTGACAATGTGCTCG	0.478													T	3225104	C	T	3225104	3	4	73	1	0	0	0	0	1	0	0	0	13264	478	17	3	65	3	RFX3	9	3225104	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		3225104	137988327	44	4785											
CACNA1B	774	broad.mit.edu	37	9	140904511	140904511	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:140904511C>T	uc004cog.3	+	16	2287	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	CACNA1B_uc022bqn.1_Silent_p.N714N|CACNA1B_uc011mfd.2_Silent_p.N316N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	714					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACCTGGCCAACGCCCAAGAGC	0.607													T	140904511	C	T	140904511	2	4	73	1	0	0	0	0	0	0	0	1	2539	535	19	1		1	CACNA1B	9	140904511	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	137679407	140904511	308920	45	4786											
MYO3A	53904	broad.mit.edu	37	10	26305807	26305807	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr10:26305807G>A	uc001isn.2	+	6	927	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_uc009xko.1_Silent_p.P189P|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.P189P|MYO3A_uc001ism.2_Silent_p.P189P	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	189	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			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						TAGGAACACCGTTTTGGATGG	0.448													A	26305807	G	A	26305807	2	1	73	1	0	0	0	0	0	0	0	1	10076	1132	40	1		1	MYO3A	10	26305807	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08		26305807	109228940	46	4787											
PTEN	5728	broad.mit.edu	37	10	89653833	89653833	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr10:89653833G>A	uc001kfb.3	+	1	1163	c.131G>A	c.(130-132)gGc>gAc	p.G44D	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	44	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.G44D(4)|p.G44G(3)|p.Y27fs*1(2)|p.G44fs*8(2)|p.G44fs*11(2)|p.Y27_N212>Y(2)|p.E43*(1)|p.E43fs*11(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACTTGAAGGCGTATACAGG	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89653833	G	A	89653833	3	1	73	1	0	0	0	0	1	0	0	0	12738	1203	42	3	137	3	PTEN	10	89653833	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	63348026	89653833	45880914	47	4788											
NLRP6	171389	broad.mit.edu	37	11	285212	285212	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:285212G>T	uc010qvs.2	+	7	2587	c.2587G>T	c.(2587-2589)Gct>Tct	p.A863S	NLRP6_uc010qvt.2_Missense_Mutation_p.A862S	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	863						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGAGCTTCAGGCTGTGAAGAG	0.617													T	285212	G	T	285212	3	4	73	1	0	0	0	0	1	0	0	0	10481	1203	42	5	2617	5	NLRP6	11	285212	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		285212	134721304	48	4789											
OR51A2	401667	broad.mit.edu	37	11	4976634	4976634	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:4976634A>T	uc010qyt.2	-	0	310	c.310T>A	c.(310-312)Ttc>Atc	p.F104I		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAATGAAGAATTCCTGGGCA	0.448													T	4976634	A	T	4976634	3	4	73	1	0	0	0	0	1	0	0	0	11086	101	4	5	633	5	OR51A2	11	4976634	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	4691422	4976634	130029882	49	4790											
OR52E2	119678	broad.mit.edu	37	11	5080295	5080295	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:5080295T>C	uc010qyw.2	-	0	563	c.563A>G	c.(562-564)cAt>cGt	p.H188R		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACAAGATAGATGAGCAAGACC	0.388													C	5080295	T	C	5080295	3	2	73	1	0	0	0	0	1	0	0	0	11115	1464	51	4	417	4	OR52E2	11	5080295	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	103661	5080295	129926221	50	4791											
PAX6	5080	broad.mit.edu	37	11	31824337	31824337	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:31824337C>A	uc009yjr.3	-	4	525	c.56G>T	c.(55-57)cGg>cTg	p.R19L	PAX6_uc001mtd.4_Missense_Mutation_p.R19L|PAX6_uc001mte.4_Missense_Mutation_p.R19L|PAX6_uc001mtg.4_Missense_Mutation_p.R19L|PAX6_uc001mtf.4_Missense_Mutation_p.R19L|PAX6_uc001mth.4_Missense_Mutation_p.R19L|PAX6_uc021qfl.1_Missense_Mutation_p.R19L|PAX6_uc021qfm.1_Missense_Mutation_p.R19L|PAX6_uc021qfn.1_Missense_Mutation_p.R19L	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	19	Paired.		R -> P (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CGGCAGTGGCCGCCCGTTGAC	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				A	31824337	C	A	31824337	3	1	73	1	0	0	0	0	1	0	0	0	11483	652	23	5	1294	5	PAX6	11	31824337	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	26744042	31824337	103182179	51	4792											
OR4D6	219983	broad.mit.edu	37	11	59224437	59224437	+	Missense_Mutation	SNP	G	G	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:59224437G>T	uc010rku.2	+	0	4	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						CCCCATCATGGACCAGATCAA	0.423													T	59224437	G	T	59224437	3	4	73	1	0	0	0	0	1	0	0	0	11058	1174	41	5	6	5	OR4D6	11	59224437	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	27400100	59224437	75782079	52	4793											
MS4A8B	83661	broad.mit.edu	37	11	60470943	60470943	+	Silent	SNP	C	C	T	rs144254483		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:60470943C>T	uc001npv.3	+	2	515	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MS4A8B_uc009yne.1_Silent_p.Y104Y	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	104						integral to membrane	receptor activity	p.Y104*(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTTCATTCTACGGAGGCTTTC	0.567													T	60470943	C	T	60470943	2	4	73	1	0	0	0	0	0	0	0	1	9867	547	19	1		1	MS4A8B	11	60470943	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	1246506	60470943	74535573	53	4794											
CD6	923	broad.mit.edu	37	11	60739382	60739382	+	Silent	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:60739382C>A	uc001nqq.3	+	0	270	c.45C>A	c.(43-45)ctC>ctA	p.L15L	CD6_uc009yni.3_Silent_p.L15L|CD6_uc009ynj.3_Silent_p.L15L|CD6_uc001nqp.3_Silent_p.L15L|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.L15L|CD6_uc001nqt.3_Silent_p.L15L	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	15					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CGGCAGCCCTCTCAGGTAGGC	0.602													A	60739382	C	A	60739382	2	1	73	1	0	0	0	0	0	0	0	1	3028	900	32	5		5	CD6	11	60739382	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	268439	60739382	74267134	54	4795											
DDB1	1642	broad.mit.edu	37	11	61079499	61079499	+	Missense_Mutation	SNP	C	C	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:61079499C>G	uc001nrc.4	-	16	2353	c.2127G>C	c.(2125-2127)aaG>aaC	p.K709N	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.K709N	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	709	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATGTGCAGCTTCTGGATCT	0.547								Nucleotide excision repair (NER)					G	61079499	C	G	61079499	3	3	73	1	0	0	0	0	1	0	0	0	4323	796	28	5	1339	5	DDB1	11	61079499	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	340117	61079499	73927017	55	4796											
NPAS4	266743	broad.mit.edu	37	11	66190325	66190325	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:66190325G>A	uc001ohx.1	+	3	787	c.611G>A	c.(610-612)gGc>gAc	p.G204D	NPAS4_uc010rpc.1_Missense_Mutation_p.A31T	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	204	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCAGGTCCTGGCCCTGGCCCT	0.632													A	66190325	G	A	66190325	3	1	73	1	0	0	0	0	1	0	0	0	10565	1203	42	3	625	3	NPAS4	11	66190325	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	5110826	66190325	68816191	56	4797											
ODZ4	26011	broad.mit.edu	37	11	78380034	78380034	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:78380034G>C	uc001ozl.4	-	31	7819	c.7356C>G	c.(7354-7356)ttC>ttG	p.F2452L	ODZ4_uc001ozk.4_Missense_Mutation_p.F677L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2452					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGTTGTTTTTGAACATATAGA	0.507													C	78380034	G	C	78380034	3	2	73	1	0	0	0	0	1	0	0	0	10837	1281	45	5	965	5	ODZ4	11	78380034	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	12189709	78380034	56626482	57	4798											
FOLH1B	219595	broad.mit.edu	37	11	89405127	89405127	+	Missense_Mutation	SNP	C	C	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:89405127C>G	uc001pda.3	+	4	780	c.254C>G	c.(253-255)gCt>gGt	p.A85G		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	85					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGTGGAGCAGCTGTTGTTCAT	0.418													G	89405127	C	G	89405127	3	3	73	1	0	0	0	0	1	0	0	0	5980	797	28	5	264	5	FOLH1B	11	89405127	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	11025093	89405127	45601389	58	4799											
ERC1	23085	broad.mit.edu	37	12	1291107	1291107	+	Missense_Mutation	SNP	G	G	A	rs138512011	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:1291107G>A	uc001qjb.2	+	9	2133	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.R603H|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.R631H|ERC1_uc010sdv.1_Missense_Mutation_p.R379H|ERC1_uc009zdp.3_Missense_Mutation_p.R271H	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	631					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACAATTGAACGCTTAAAGGAG	0.378													A	1291107	G	A	1291107	3	1	73	1	0	0	0	0	1	0	0	0	5210	1087	38	1	1926	1	ERC1	12	1291107	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		1291107	132560788	59	4800											
FOXJ2	55810	broad.mit.edu	37	12	8192492	8192492	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:8192492G>A	uc001qtu.3	+	1	1149	c.64G>A	c.(64-66)Gct>Act	p.A22T	FOXJ2_uc001qtt.1_Missense_Mutation_p.A22T	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	22					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GACCCTCCGAGCTACCATTGA	0.582													A	8192492	G	A	8192492	3	1	73	1	0	0	0	0	1	0	0	0	6012	971	34	3	66	3	FOXJ2	12	8192492	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	6901385	8192492	125659403	60	4801											
C12orf35	55196	broad.mit.edu	37	12	32138039	32138039	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:32138039G>C	uc001rks.3	+	3	4564	c.4150G>C	c.(4150-4152)Gat>Cat	p.D1384H		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1384										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			GAACGTATTAGATATGGAAGT	0.343													C	32138039	G	C	32138039	3	2	73	1	0	0	0	0	1	0	0	0	1682	942	33	5	4152	5	C12orf35	12	32138039	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	23945547	32138039	101713856	61	4802											
LARP4	113251	broad.mit.edu	37	12	50831593	50831593	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:50831593G>A	uc001rwp.2	+	5	813	c.611G>A	c.(610-612)aGa>aAa	p.R204K	LARP4_uc001rwq.2_Missense_Mutation_p.R204K|LARP4_uc001rwt.2_Missense_Mutation_p.R204K|LARP4_uc001rws.2_Missense_Mutation_p.R203K|LARP4_uc001rwr.2_Missense_Mutation_p.R204K|LARP4_uc021qxv.1_Missense_Mutation_p.R134K|LARP4_uc009zlr.1_Missense_Mutation_p.R23K|LARP4_uc001rwm.3_Missense_Mutation_p.R204K|LARP4_uc001rwn.3_Missense_Mutation_p.R134K	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	204	RRM.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTAATTCTTAGAGAGATTCCT	0.338													A	50831593	G	A	50831593	3	1	73	1	0	0	0	0	1	0	0	0	8630	942	33	3	633	3	LARP4	12	50831593	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	18693554	50831593	83020302	62	4803											
C12orf63	374467	broad.mit.edu	37	12	97052014	97052014	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:97052014C>A	uc021rcc.1	+	4	703	c.625C>A	c.(625-627)Cca>Aca	p.P209T				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	209										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACAAGTGACACCACTTCTGGT	0.388													A	97052014	C	A	97052014	3	1	73	1	0	0	0	0	1	0	0	0	1706	507	18	5	639	5	C12orf63	12	97052014	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	46220421	97052014	36799881	63	4804											
CHD8	57680	broad.mit.edu	37	14	21876716	21876716	+	Splice_Site	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:21876716T>C	uc001war.2	-	12	2552	c.2487_splice	c.e12-1	p.R829_splice	CHD8_uc001was.2_Splice_Site_p.R550_splice|CHD8_uc001wav.1_Splice_Site	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	829	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGTTCTGCCTGCAGATTCAC	0.353													C	21876716	T	C	21876716	5	2	73	1	0	0	0	0	0	0	1	0	3331	1594	55	4	5364	4	CHD8	14	21876716	Splice_Site	SNP	T	TCGA-06-1804-01A-01D-1696-08		21876716	85472824	64	4805											
LRRC16B	90668	broad.mit.edu	37	14	24538046	24538046	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:24538046A>G	uc001wlj.2	+	37	4010	c.3853A>G	c.(3853-3855)Agg>Ggg	p.R1285G	LRRC16B_uc001wlk.2_Missense_Mutation_p.R338G|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1285										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCTGTGCCCAGGGGCCGCCA	0.637													G	24538046	A	G	24538046	3	3	73	1	0	0	0	0	1	0	0	0	8972	179	7	4	4003	4	LRRC16B	14	24538046	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	2661330	24538046	82811494	65	4806											
KIAA0284	283638	broad.mit.edu	37	14	105353636	105353636	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:105353636G>A	uc001yps.3	+	10	3156	c.2850G>A	c.(2848-2850)atG>atA	p.M950I	KIAA0284_uc010axb.3_Missense_Mutation_p.M950I|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1020						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CGACGGACATGGGCCGTGGAG	0.701													A	105353636	G	A	105353636	3	1	73	1	0	0	0	0	1	0	0	0	8166	1348	47	3	3102	3	KIAA0284	14	105353636	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	80815590	105353636	1995904	66	4807											
UNKL	64718	broad.mit.edu	37	16	1417320	1417320	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:1417320C>T	uc010brn.2	-	13	1823	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	UNKL_uc002cln.3_Missense_Mutation_p.E106K|UNKL_uc002clp.3_Missense_Mutation_p.E106K|UNKL_uc002clo.3_Missense_Mutation_p.E103K	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN	Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.	604						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TCCTTGGCCTCCTGCGCCTCT	0.667													T	1417320	C	T	1417320	3	4	73	1	0	0	0	0	1	0	0	0	16998	864	30	3	390	3	UNKL	16	1417320	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		1417320	88937433	67	4808											
ABCA3	21	broad.mit.edu	37	16	2369841	2369841	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:2369841C>T	uc002cpy.1	-	8	1326	c.614_splice	c.e8-1	p.G205_splice	ABCA3_uc010bsk.1_Splice_Site_p.G205_splice|ABCA3_uc010bsl.1_Splice_Site_p.G205_splice	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	205					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCGGATGTACCCTGGGTGCGG	0.657													T	2369841	C	T	2369841	3	4	73	1	0	0	0	0	1	0	0	0	33	637	22	3	4604	3	ABCA3	16	2369841	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	952521	2369841	87984912	68	4809											
GRIN2A	2903	broad.mit.edu	37	16	10274212	10274212	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:10274212G>A	uc010uym.2	-	2	367	c.57C>T	c.(55-57)cgC>cgT	p.R19R	GRIN2A_uc002czo.4_Silent_p.R19R|GRIN2A_uc002czr.4_Silent_p.R19R|GRIN2A_uc010buk.3_Silent_p.R19R	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	19					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R19C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCGCCGGACCGCGCCAGACCA	0.657													A	10274212	G	A	10274212	2	1	73	1	0	0	0	0	0	0	0	1	6779	1074	38	1		1	GRIN2A	16	10274212	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	7904371	10274212	80080541	69	4810											
GGA2	23062	broad.mit.edu	37	16	23505700	23505700	+	Splice_Site	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:23505700C>T	uc002dlq.3	-	3	260	c.177_splice	c.e3-1	p.G59_splice	GGA2_uc010bxo.2_Splice_Site	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	59	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ATGTGTGGGGCTACAGGGAAA	0.522													T	23505700	C	T	23505700	5	4	73	1	0	0	0	0	0	0	1	0	6353	811	28	3	1725	3	GGA2	16	23505700	Splice_Site	SNP	C	TCGA-06-1804-01A-01D-1696-08	13231488	23505700	66849053	70	4811											
CETP	1071	broad.mit.edu	37	16	57017290	57017290	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:57017290C>T	uc002eki.2	+	14	1431	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	CETP_uc002ekj.2_Silent_p.F398F	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	458					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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGAGCCTCTTCGACATCATCA	0.592													T	57017290	C	T	57017290	2	4	73	1	0	0	0	0	0	0	0	1	3277	883	31	2		2	CETP	16	57017290	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	33511590	57017290	33337463	71	4812											
GPR114	221188	broad.mit.edu	37	16	57609404	57609404	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:57609404C>T	uc002ely.3	+	11	2064	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	GPR114_uc002elx.4_Missense_Mutation_p.A514V|GPR114_uc010vhr.2_3'UTR	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAGCAGAGGCCAAGGCACAG	0.612													T	57609404	C	T	57609404	3	4	73	1	0	0	0	0	1	0	0	0	6631	739	26	3	1583	3	GPR114	16	57609404	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	592114	57609404	32745349	72	4813											
SPDYE4	388333	broad.mit.edu	37	17	8658884	8658884	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:8658884C>T	uc010cnz.1	-	3	616	c.439G>A	c.(439-441)Ggc>Agc	p.G147S		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	147										breast(1)|endometrium(2)|kidney(1)	4						GAGAAGAGGCCGGCACGGCTA	0.493													T	8658884	C	T	8658884	3	4	73	1	0	0	0	0	1	0	0	0	15030	652	23	2	286	2	SPDYE4	17	8658884	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		8658884	72536326	73	4814											
PIK3R5	23533	broad.mit.edu	37	17	8784088	8784088	+	Silent	SNP	C	C	T	rs141893152	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:8784088C>T	uc002glt.3	-	18	2578	c.2511G>A	c.(2509-2511)ccG>ccA	p.P837P	PIK3R5_uc010vuz.2_Silent_p.P837P|PIK3R5_uc021tqc.1_Silent_p.P451P|PIK3R5_uc010cob.2_Silent_p.P451P|PIK3R5_uc010coa.2_Silent_p.P451P|PIK3R5_uc002glu.4_Silent_p.P451P	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	837					platelet activation	cytosol|membrane|nucleus		p.P837L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCTTGTAGCACGGTGAGACCT	0.647													T	8784088	C	T	8784088	2	4	73	1	0	0	0	0	0	0	0	1	11922	523	19	1		1	PIK3R5	17	8784088	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	125204	8784088	72411122	74	4815											
CCL15	348249	broad.mit.edu	37	17	34313606	34313606	+	Splice_Site	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:34313606C>A	uc010wcs.2	-	5		c.1075_splice	c.e5+1		CCL14_uc010wcq.1_Intron|CCL14_uc010wcr.1_Intron|CCL14_uc002hkn.2_Intron|CCL15_uc010wct.2_Splice_Site|BC070118_uc002hkq.3_Non-coding_Transcript			Q16663	CCL15_HUMAN	Homo sapiens CCL14-CCL15 readthrough (CCL14-CCL15), transcript variant 1, non-coding RNA.						cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTGCACTCACGTGAGGAGGA	0.557													A	34313606	C	A	34313606	5	1	73	1	0	0	0	0	0	0	1	0	2886	550	19	5		5	CCL15	17	34313606	Splice_Site	SNP	C	TCGA-06-1804-01A-01D-1696-08	25529518	34313606	46881604	75	4816											
ERN1	2081	broad.mit.edu	37	17	62144066	62144066	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:62144066C>T	uc002jdz.2	-	7	920	c.807G>A	c.(805-807)ccG>ccA	p.P269P		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	269					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592													T	62144066	C	T	62144066	2	4	73	1	0	0	0	0	0	0	0	1	5237	523	19	1		1	ERN1	17	62144066	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	27830460	62144066	19051144	76	4817											
SLC16A5	9121	broad.mit.edu	37	17	73096774	73096774	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:73096774G>A	uc002jmr.3	+	4	1388	c.1016G>A	c.(1015-1017)aGc>aAc	p.S339N	SLC16A5_uc002jmt.3_Missense_Mutation_p.S339N|SLC16A5_uc002jmu.3_Missense_Mutation_p.S339N|SLC16A5_uc010wrt.2_Missense_Mutation_p.S379N	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	339					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTGGCGTACAGCGTGTCCATG	0.592													A	73096774	G	A	73096774	3	1	73	1	0	0	0	0	1	0	0	0	14411	971	34	3	1026	3	SLC16A5	17	73096774	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	10952708	73096774	8098436	77	4818											
ENGASE	64772	broad.mit.edu	37	17	77081747	77081747	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:77081747C>T	uc002jwv.3	+	12	1754	c.1746C>T	c.(1744-1746)ctC>ctT	p.L582L	ENGASE_uc002jww.3_Silent_p.L287L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	582						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TAGACCTCCTCGTTTGCTTCT	0.662													T	77081747	C	T	77081747	2	4	73	1	0	0	0	0	0	0	0	1	5118	871	31	2		2	ENGASE	17	77081747	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	3984973	77081747	4113463	78	4819											
CCDC68	80323	broad.mit.edu	37	18	52604167	52604167	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr18:52604167C>T	uc002lfs.3	-	5	540	c.368G>A	c.(367-369)gGa>gAa	p.G123E	CCDC68_uc002lft.3_Missense_Mutation_p.G123E	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	123										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGCTGCTGCTCCTGCTTCTCT	0.418													T	52604167	C	T	52604167	3	4	73	1	0	0	0	0	1	0	0	0	2840	855	30	3	667	3	CCDC68	18	52604167	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		52604167	25473081	79	4820											
DOK6	220164	broad.mit.edu	37	18	67365777	67365777	+	Missense_Mutation	SNP	T	T	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr18:67365777T>A	uc002lkl.3	+	4	744	c.547T>A	c.(547-549)Tca>Aca	p.S183T		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	183	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCCTCTCAGCTCACTGAGGAG	0.463													A	67365777	T	A	67365777	3	1	73	1	0	0	0	0	1	0	0	0	4701	1551	54	5	565	5	DOK6	18	67365777	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	14761610	67365777	10711471	80	4821											
FZR1	51343	broad.mit.edu	37	19	3531983	3531983	+	Missense_Mutation	SNP	A	A	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:3531983A>C	uc010dtk.2	+	8	932	c.898A>C	c.(898-900)Acc>Ccc	p.T300P	FZR1_uc002lxt.2_Missense_Mutation_p.T300P|FZR1_uc002lxv.2_Missense_Mutation_p.T211P	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	300					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCCGCACCCCGCCACT	0.711													C	3531983	A	C	3531983	3	2	73	1	0	0	0	0	1	0	0	0	6138	159	6	5	932	5	FZR1	19	3531983	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08		3531983	55597000	81	4822											
ZNF442	79973	broad.mit.edu	37	19	12461021	12461021	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:12461021G>A	uc002mtr.1	-	5	1989	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ZNF442_uc010xmk.1_Missense_Mutation_p.P391S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CATTTATAGGGTTTCTCTCCA	0.378													A	12461021	G	A	12461021	3	1	73	1	0	0	0	0	1	0	0	0	17912	1261	44	3	509	3	ZNF442	19	12461021	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	8929038	12461021	46667962	82	4823											
PSG8	440533	broad.mit.edu	37	19	43268388	43268388	+	Missense_Mutation	SNP	G	G	A	rs142689447		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:43268388G>A	uc002ouo.2	-	1	208	c.110C>T	c.(109-111)aCg>aTg	p.T37M	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T37M|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	37	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCTTCAATCGTGACTTGGGC	0.463													A	43268388	G	A	43268388	3	1	73	1	0	0	0	0	1	0	0	0	12661	1145	40	1	1207	1	PSG8	19	43268388	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	30807367	43268388	15860595	83	4824											
RTN2	6253	broad.mit.edu	37	19	45998164	45998164	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:45998164C>T	uc002pcb.3	-	2	409	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	RTN2_uc002pcc.3_Missense_Mutation_p.R60Q|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	60						integral to endoplasmic reticulum membrane	signal transducer activity	p.R60W(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGTCAGCTCCCGGGGGGTGCC	0.662													T	45998164	C	T	45998164	3	4	73	1	0	0	0	0	1	0	0	0	13726	652	23	2	1494	2	RTN2	19	45998164	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	2729776	45998164	13130819	84	4825											
TRPM4	54795	broad.mit.edu	37	19	49686170	49686170	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:49686170C>T	uc002pmw.3	+	10	1707	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	TRPM4_uc010emu.3_Silent_p.F533F|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Silent_p.F359F|TRPM4_uc010emv.3_Silent_p.F418F|TRPM4_uc010yal.2_Silent_p.F179F|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	533					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			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)		GCCAGGGCTTCGGGGAGAGCG	0.711													T	49686170	C	T	49686170	2	4	73	1	0	0	0	0	0	0	0	1	16585	883	31	2		2	TRPM4	19	49686170	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	3688006	49686170	9442813	85	4826											
SULF2	55959	broad.mit.edu	37	20	46318884	46318884	+	Silent	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr20:46318884G>A	uc002xto.3	-	4	1053	c.723C>T	c.(721-723)aaC>aaT	p.N241N	SULF2_uc002xtr.3_Silent_p.N241N|SULF2_uc002xtq.3_Silent_p.N241N|SULF2_uc010ghv.1_Silent_p.N241N	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	241					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.N241K(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCTGAGATGCGTTTGGGAAGA	0.567													A	46318884	G	A	46318884	2	1	73	1	0	0	0	0	0	0	0	1	15370	1136	40	1		1	SULF2	20	46318884	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08		46318884	16706636	86	4827											
HRH3	11255	broad.mit.edu	37	20	60791774	60791774	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr20:60791774G>A	uc002yci.3	-	2	923	c.626C>T	c.(625-627)aCg>aTg	p.T209M	HRH3_uc002ycf.2_Missense_Mutation_p.T209M|HRH3_uc002ych.3_Missense_Mutation_p.T209M|HRH3_uc002ycg.3_Missense_Mutation_p.T209M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	209					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GAGGAAGGGCGTAAAGAACTC	0.612													A	60791774	G	A	60791774	3	1	73	1	0	0	0	0	1	0	0	0	7357	1145	40	1	715	1	HRH3	20	60791774	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	14472890	60791774	2233746	87	4828											
COL6A2	1292	broad.mit.edu	37	21	47535812	47535812	+	Silent	SNP	G	G	A	rs140790797		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr21:47535812G>A	uc002zia.1	+	5	910	c.828G>A	c.(826-828)ccG>ccA	p.P276P	COL6A2_uc002zhz.1_Silent_p.P276P|COL6A2_uc002zhy.1_Silent_p.P276P	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	276	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGGTGAGCCGGGAGAGCCTG	0.662													A	47535812	G	A	47535812	2	1	73	1	0	0	0	0	0	0	0	1	3700	1103	39	2		2	COL6A2	21	47535812	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08		47535812	594083	88	4829											
TRIOBP	11078	broad.mit.edu	37	22	38119624	38119624	+	Missense_Mutation	SNP	C	C	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr22:38119624C>A	uc003atr.3	+	6	1332	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H	TRIOBP_uc003atu.3_Missense_Mutation_p.P182H|TRIOBP_uc003atq.1_Missense_Mutation_p.P354H|TRIOBP_uc003ats.1_Missense_Mutation_p.P182H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	354					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGGATAACCCCAGAACCTCT	0.577													A	38119624	C	A	38119624	3	1	73	1	0	0	0	0	1	0	0	0	16550	623	22	5	1079	5	TRIOBP	22	38119624	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		38119624	13184942	89	4830											
PNPLA5	150379	broad.mit.edu	37	22	44287074	44287074	+	Missense_Mutation	SNP	C	C	A	rs79793310	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr22:44287074C>A	uc003beg.3	-	1	427	c.294G>T	c.(292-294)caG>caT	p.Q98H	PNPLA5_uc003beh.3_Intron|PNPLA5_uc021wqw.1_Missense_Mutation_p.Q98H|PNPLA5_uc021wqx.1_Intron|PNPLA5_uc011aqc.2_5'UTR	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	98	Patatin.				lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTGCAGCTGCTGCTTGACGT	0.662													A	44287074	C	A	44287074	3	1	73	1	0	0	0	0	1	0	0	0	12168	796	28	5	1027	5	PNPLA5	22	44287074	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	6167450	44287074	7017492	90	4831											
VCX2	51480	broad.mit.edu	37	X	8138151	8138151	+	Silent	SNP	C	C	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:8138151C>T	uc004csb.3	-	2	649	c.342G>A	c.(340-342)ctG>ctA	p.L114L		NM_016378	NP_057462	Q9H322	VCX2_HUMAN	Homo sapiens variable charge, X-linked 2 (VCX2), mRNA.	114	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.									endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TCTCCTGACTCAGTGGTTCTT	0.642													T	8138151	C	T	8138151	2	4	73	1	0	0	0	0	0	0	0	1	17140	813	29	3		3	VCX2	23	8138151	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08		8138151	147132409	91	4832											
PHEX	5251	broad.mit.edu	37	X	22112133	22112133	+	Silent	SNP	T	T	C			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:22112133T>C	uc004dah.3	+	6	968	c.765T>C	c.(763-765)gaT>gaC	p.D255D	PHEX_uc011mjr.2_Silent_p.D255D|PHEX_uc011mjs.2_Silent_p.D158D	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	255					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCATGGTGGATACTGCCGTGC	0.408													C	22112133	T	C	22112133	2	2	73	1	0	0	0	0	0	0	0	1	11819	1403	49	4		4	PHEX	23	22112133	Silent	SNP	T	TCGA-06-1804-01A-01D-1696-08	13973982	22112133	133158427	92	4833											
BCOR	54880	broad.mit.edu	37	X	39922999	39923002	+	Frame_Shift_Del	DEL	CTTC	CTTC	-			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:39922999_39923002delCTTC	uc004den.4	-	7	3998_4001	c.3706_3709delGAAG	c.(3706-3711)gaagtgfs	p.E1236fs	BCOR_uc004dep.4_Frame_Shift_Del_p.E1202fs|BCOR_uc004deo.4_Frame_Shift_Del_p.E1184fs|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Frame_Shift_Del_p.E1202fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1236					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCCTGGGTCACTTCCTTCCTGCTT	0.559			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39923002	CTTC	-	39922999	7	5	73	1	0	1	0	1	0	0	0	0	1386	565	20	0	1590	0	BCOR	23	39922999	Frame_Shift_Del	DEL	CTTC	TCGA-06-1804-01A-01D-1696-08	17810866	39922999	115347561	93	4834											
SLC9A7	84679	broad.mit.edu	37	X	46618211	46618211	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:46618211A>T	uc004dgu.1	-	0	262	c.254T>A	c.(253-255)aTc>aAc	p.I85N	SLC9A7_uc004dgv.1_Missense_Mutation_p.I85N	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	85					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GATGGTGAGGATGGTGAGCGT	0.632													T	46618211	A	T	46618211	3	4	73	1	0	0	0	0	1	0	0	0	14719	333	12	5	1991	5	SLC9A7	23	46618211	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	6695212	46618211	108652349	94	4835											
HUWE1	10075	broad.mit.edu	37	X	53600812	53600812	+	Silent	SNP	A	A	G			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:53600812A>G	uc004dsp.3	-	46	6612	c.6210T>C	c.(6208-6210)acT>acC	p.T2070T	HUWE1_uc004dsn.3_Silent_p.T894T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2070					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACGAAGGATAGTGGAGGTAG	0.502													G	53600812	A	G	53600812	2	3	73	1	0	0	0	0	0	0	0	1	7461	407	15	4		4	HUWE1	23	53600812	Silent	SNP	A	TCGA-06-1804-01A-01D-1696-08	6982601	53600812	101669748	95	4836											
POF1B	79983	broad.mit.edu	37	X	84634246	84634246	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:84634246G>A	uc004eer.2	-	1	360	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	POF1B_uc004ees.3_Missense_Mutation_p.R72W	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	72							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCACTTCCCGTGAGTTGAAG	0.517													A	84634246	G	A	84634246	3	1	73	1	0	0	0	0	1	0	0	0	12182	1144	40	1	1619	1	POF1B	23	84634246	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	31033434	84634246	70636314	96	4837											
AGTR2	186	broad.mit.edu	37	X	115303791	115303791	+	Silent	SNP	C	C	T	rs13306157		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:115303791C>T	uc022cdd.1	+	0	258	c.258C>T	c.(256-258)ctC>ctT	p.L86L	AGTR2_uc004eqh.4_Silent_p.L86L	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	86					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TCTTCAACCTCGCTGTGGCTG	0.378													T	115303791	C	T	115303791	2	4	73	1	0	0	0	0	0	0	0	1	402	871	31	2		2	AGTR2	23	115303791	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	30669545	115303791	39966769	97	4838											
MAGEA5	4104	broad.mit.edu	37	X	151283685	151283685	+	Missense_Mutation	SNP	T	T	A			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:151283685T>A	uc004ffj.3	-	2	500	c.328A>T	c.(328-330)Agt>Tgt	p.S110C	MAGEA5_uc022cgy.1_Missense_Mutation_p.S110C	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	110	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTTCTTACTGAGTGCTGCT	0.488													A	151283685	T	A	151283685	3	1	73	1	0	0	0	0	1	0	0	0	9169	1580	55	5	50	5	MAGEA5	23	151283685	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	35979894	151283685	3986875	98	4839											
ARID1A	8289	broad.mit.edu	37	1	27106176	27106176	+	Missense_Mutation	SNP	T	T	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr1:27106176T>G	uc001bmv.1	+	19	6160	c.5787T>G	c.(5785-5787)agT>agG	p.S1929R	ARID1A_uc001bmu.1_Missense_Mutation_p.S1712R|ARID1A_uc001bmx.1_Missense_Mutation_p.S775R|ARID1A_uc009vsm.1_Missense_Mutation_p.S257R|ARID1A_uc009vsn.1_Missense_Mutation_p.S171R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1929					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.K1928*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAGCTAAGAGTTCAGAGGCCA	0.532			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27106176	T	G	27106176	3	3	74	1	0	0	0	0	1	0	0	0	913	1722	60	5	5865	5	ARID1A	1	27106176	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		27106176	222144445	1	4840											
OR2L3	391192	broad.mit.edu	37	1	248224277	248224277	+	Silent	SNP	T	T	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr1:248224277T>A	uc001idx.1	+	0	294	c.294T>A	c.(292-294)atT>atA	p.I98I	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G97A(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			GGTGTGGGATTCAGAGTTTCT	0.428													A	248224277	T	A	248224277	2	1	74	1	0	0	0	0	0	0	0	1	11008	1771	62	5		5	OR2L3	1	248224277	Silent	SNP	T	TCGA-06-1806-01A-02D-1845-08	221118101	248224277	1026344	2	4841											
ANTXR1	84168	broad.mit.edu	37	2	69240637	69240637	+	Silent	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr2:69240637C>T	uc002sfg.3	+	0	362	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ANTXR1_uc002sfe.3_Silent_p.A2A|ANTXR1_uc002sff.3_Silent_p.A2A|ANTXR1_uc002sfd.2_Silent_p.A2A	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	2					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGGCCATGGCCACGGCGGAGC	0.721									Familial Infantile Hemangioma				T	69240637	C	T	69240637	2	4	74	1	0	0	0	0	0	0	0	1	711	581	21	3		3	ANTXR1	2	69240637	Silent	SNP	C	TCGA-06-1806-01A-02D-1845-08		69240637	173958736	3	4842											
IDUA	3425	broad.mit.edu	37	4	995272	995272	+	Silent	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr4:995272G>A	uc003gby.3	+	4	598	c.510G>A	c.(508-510)gcG>gcA	p.A170A	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.A123A	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	170					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	ACGGACTGGCGCATGTTTCCA	0.582													A	995272	G	A	995272	2	1	74	1	0	0	0	0	0	0	0	1	7504	1074	38	1		1	IDUA	4	995272	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		995272	190159004	4	4843											
TMEM184C	55751	broad.mit.edu	37	4	148545074	148545074	+	Silent	SNP	A	A	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr4:148545074A>G	uc003ila.4	+	1	782	c.213A>G	c.(211-213)ttA>ttG	p.L71L		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.	71						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TGCAACACTTAGTGCATTATA	0.338													G	148545074	A	G	148545074	2	3	74	1	0	0	0	0	0	0	0	1	16103	417	15	4		4	TMEM184C	4	148545074	Silent	SNP	A	TCGA-06-1806-01A-02D-1845-08	147549802	148545074	42609202	5	4844											
MCC	4163	broad.mit.edu	37	5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr5:112824054C>T	uc003kql.4	-	0	474	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	548					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756													T	112824054	C	T	112824054	3	4	74	1	0	0	0	0	1	0	0	0	9373	652	23	2	3138	2	MCC	5	112824054	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08		112824054	68091206	6	4845											
PCDHB7	56129	broad.mit.edu	37	5	140554787	140554787	+	Missense_Mutation	SNP	T	T	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr5:140554787T>G	uc003lit.3	+	0	2545	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	791					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGAATAATTTGGGTTTCTG	0.423													G	140554787	T	G	140554787	3	3	74	1	0	0	0	0	1	0	0	0	11547	1838	64	5	2373	5	PCDHB7	5	140554787	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	27730733	140554787	40360473	7	4846											
F13A1	2162	broad.mit.edu	37	6	6145963	6145963	+	Silent	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr6:6145963G>A	uc003mwv.3	-	14	2211	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C	F13A1_uc011dib.2_Missense_Mutation_p.A590V	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	696					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCAGGGCCGGCACACTTCTT	0.547													A	6145963	G	A	6145963	2	1	74	1	0	0	0	0	0	0	0	1	5340	1195	42	3		3	F13A1	6	6145963	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		6145963	164969104	8	4847											
IQCE	23288	broad.mit.edu	37	7	2644610	2644610	+	Silent	SNP	A	A	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:2644610A>G	uc003sml.1	+	18	1912	c.1728A>G	c.(1726-1728)ccA>ccG	p.P576P	IQCE_uc011jvy.1_Silent_p.P560P|IQCE_uc011jvz.1_Silent_p.P511P|IQCE_uc003smo.4_Silent_p.P576P|IQCE_uc003smk.4_Silent_p.P560P|IQCE_uc003smn.4_Silent_p.P511P	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	576										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCAGCGTGCCAGGCCTCCCAG	0.612													G	2644610	A	G	2644610	2	3	74	1	0	0	0	0	0	0	0	1	7806	175	7	4		4	IQCE	7	2644610	Silent	SNP	A	TCGA-06-1806-01A-02D-1845-08		2644610	156494053	9	4848											
CACNA2D1	781	broad.mit.edu	37	7	81591237	81591238	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:81591237_81591238CC>AT	uc003uhr.1	-	35	3194_3195	c.2938_2939GG>AT	c.(2938-2940)ggt>ATt	p.G980I	CACNA2D1_uc011kgy.1_Missense_Mutation_p.G192I	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	992						voltage-gated calcium channel complex	metal ion binding			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)	GTCTAATACACCACTGAATGAT	0.361													AT	81591238	CC	AT	81591237	3	1	74	1	0	0	0	0	1	0	0	0	2548	507	18	5	352	5	CACNA2D1	7	81591237	Missense_Mutation	DNP	CC	TCGA-06-1806-01A-02D-1845-08	78946627	81591237	77547426	10	4849											
NAMPT	10135	broad.mit.edu	37	7	105909693	105909693	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:105909693T>C	uc003vdq.3	-	4	821	c.513A>G	c.(511-513)atA>atG	p.I171M	NAMPT_uc003vdr.1_Missense_Mutation_p.I171M|NAMPT_uc011klu.1_Missense_Mutation_p.I84M	NM_005746	NP_005737	P43490	NAMPT_HUMAN	Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.	171					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATTTGGCCAATATTTTCTTCT	0.363													C	105909693	T	C	105909693	3	2	74	1	0	0	0	0	1	0	0	0	10149	1396	49	4	990	4	NAMPT	7	105909693	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	24318456	105909693	53228970	11	4850											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	74	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08	34543443	140453136	18685527	12	4851											
SLCO5A1	81796	broad.mit.edu	37	8	70585394	70585394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr8:70585394T>C	uc003xyl.3	-	9	2964	c.2257A>G	c.(2257-2259)Att>Gtt	p.I753V	SLCO5A1_uc010lzb.3_Missense_Mutation_p.I698V|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	753						integral to membrane|plasma membrane	transporter activity			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)			GCCAGAAAAATAAAAATAAAC	0.488													C	70585394	T	C	70585394	3	2	74	1	0	0	0	0	1	0	0	0	14731	1406	49	4	293	4	SLCO5A1	8	70585394	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		70585394	75778628	13	4852											
QSOX2	169714	broad.mit.edu	37	9	139108556	139108556	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr9:139108556G>A	uc010nbi.2	-	8	1137	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	367					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACTGGCGGCCGTCCAGGGAAC	0.642													A	139108556	G	A	139108556	3	1	74	1	0	0	0	0	1	0	0	0	12884	1144	40	1	1013	1	QSOX2	9	139108556	Missense_Mutation	SNP	G	TCGA-06-1806-01A-02D-1845-08		139108556	2104875	14	4853											
SYT13	57586	broad.mit.edu	37	11	45273992	45273992	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:45273992C>T	uc001myq.2	-	3	952	c.826G>A	c.(826-828)Gag>Aag	p.E276K	SYT13_uc009yku.1_Missense_Mutation_p.E132K	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	276						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GTCTTCAGCTCGCCCCACTGG	0.632											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45273992	C	T	45273992	3	4	74	1	0	0	0	0	1	0	0	0	15466	893	31	2	466	2	SYT13	11	45273992	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08		45273992	89732524	15	4854											
MAPK8IP1	9479	broad.mit.edu	37	11	45927211	45927211	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:45927211A>G	uc001nbr.3	+	11	2400	c.2075A>G	c.(2074-2076)cAg>cGg	p.Q692R		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	692	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AGAGCATTCCAGCAGTTCTAC	0.597													G	45927211	A	G	45927211	3	3	74	1	0	0	0	0	1	0	0	0	9284	188	7	4	2121	4	MAPK8IP1	11	45927211	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08	653219	45927211	89079305	16	4855											
PTPRJ	5795	broad.mit.edu	37	11	48185118	48185118	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:48185118C>T	uc001ngp.4	+	22	4022	c.3667C>T	c.(3667-3669)Cgt>Tgt	p.R1223C		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	1223	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTACCTCGTTCGTGACTACAT	0.517													T	48185118	C	T	48185118	3	4	74	1	0	0	0	0	1	0	0	0	12804	884	31	2	3766	2	PTPRJ	11	48185118	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	2257907	48185118	86821398	17	4856											
ZNF202	7753	broad.mit.edu	37	11	123597645	123597645	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:123597645T>C	uc001pzd.1	-	8	1407	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	ZNF202_uc001pzc.1_Missense_Mutation_p.E112G|ZNF202_uc001pze.1_Missense_Mutation_p.E336G|ZNF202_uc001pzf.1_Missense_Mutation_p.E336G	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	336					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GTGTATATCCTCCAAACTCAG	0.453													C	123597645	T	C	123597645	3	2	74	1	0	0	0	0	1	0	0	0	17760	1551	54	4	943	4	ZNF202	11	123597645	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	75412527	123597645	11408871	18	4857											
B3GAT1	27087	broad.mit.edu	37	11	134253884	134253884	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:134253884C>T	uc001qhq.3	-	3	572	c.311G>A	c.(310-312)cGc>cAc	p.R104H	B3GAT1_uc001qhr.3_Missense_Mutation_p.R104H|B3GAT1_uc010scv.1_Missense_Mutation_p.R117H	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	104					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTTGGCCATGCGCGTCAGCTC	0.716													T	134253884	C	T	134253884	3	4	74	1	0	0	0	0	1	0	0	0	1253	768	27	1	705	1	B3GAT1	11	134253884	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	10656239	134253884	752632	19	4858											
PDZRN4	29951	broad.mit.edu	37	12	41967365	41967365	+	Silent	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:41967365C>T	uc010skn.2	+	9	2792	c.2784C>T	c.(2782-2784)gaC>gaT	p.D928D	PDZRN4_uc001rmq.4_Silent_p.D670D|PDZRN4_uc009zjz.3_Silent_p.D668D|PDZRN4_uc001rmr.3_Silent_p.D555D	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	928							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGACCACAGACGATGACACCA	0.562													T	41967365	C	T	41967365	2	4	74	1	0	0	0	0	0	0	0	1	11710	535	19	1		1	PDZRN4	12	41967365	Silent	SNP	C	TCGA-06-1806-01A-02D-1845-08		41967365	91884530	20	4859											
LRRIQ1	84125	broad.mit.edu	37	12	85459127	85459127	+	Missense_Mutation	SNP	C	C	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:85459127C>T	uc001tac.3	+	8	2590	c.2479C>T	c.(2479-2481)Cgc>Tgc	p.R827C	LRRIQ1_uc021rbo.1_Missense_Mutation_p.R705C	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	827										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)		ATCCCTTCGACGCTGTGGATT	0.393													T	85459127	C	T	85459127	3	4	74	1	0	0	0	0	1	0	0	0	9029	536	19	1	2509	1	LRRIQ1	12	85459127	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	43491762	85459127	48392768	21	4860											
LUM	4060	broad.mit.edu	37	12	91502172	91502172	+	Missense_Mutation	SNP	C	C	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:91502172C>G	uc001tbm.3	-	1	974	c.585G>C	c.(583-585)caG>caC	p.Q195H		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	195					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GTCTGGCTATCTGATTGAAGC	0.428													G	91502172	C	G	91502172	3	3	74	1	0	0	0	0	1	0	0	0	9085	912	32	5	439	5	LUM	12	91502172	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	6043045	91502172	42349723	22	4861											
AKAP13	11214	broad.mit.edu	37	15	86286791	86286791	+	Silent	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr15:86286791G>A	uc002blv.1	+	35	8297	c.8127G>A	c.(8125-8127)tcG>tcA	p.S2709S	AKAP13_uc002blu.1_Silent_p.S2713S|AKAP13_uc002blw.1_Silent_p.S1174S|AKAP13_uc002blx.1_Silent_p.S954S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2709	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.S2713S(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCCCCCCTCGCCATCTGCAC	0.502													A	86286791	G	A	86286791	2	1	74	1	0	0	0	0	0	0	0	1	449	1074	38	1		1	AKAP13	15	86286791	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		86286791	16244601	23	4862											
MLST8	64223	broad.mit.edu	37	16	2256651	2256651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr16:2256651delG	uc002coy.3	+	3	726	c.335delG	c.(334-336)tggfs	p.W112fs	MLST8_uc002cpc.3_Frame_Shift_Del_p.W112fs|MLST8_uc010uvx.2_Frame_Shift_Del_p.W46fs|MLST8_uc002cpd.3_Frame_Shift_Del_p.W46fs|MLST8_uc002cpb.3_Frame_Shift_Del_p.W111fs|MLST8_uc002coz.3_Frame_Shift_Del_p.W112fs|MLST8_uc002cpe.3_Frame_Shift_Del_p.W112fs|MLST8_uc010uvy.2_Frame_Shift_Del_p.W112fs|MLST8_uc002cpf.3_Frame_Shift_Del_p.W112fs|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	112					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GCCAGGATCTGGGACCTCAGG	0.642													-	2256651	G	-	2256651	7	5	74	1	0	1	0	1	0	0	0	0	9634	1357	47	0	345	0	MLST8	16	2256651	Frame_Shift_Del	DEL	G	TCGA-06-1806-01A-02D-1845-08		2256651	88098102	24	4863											
ATP9B	374868	broad.mit.edu	37	18	77133909	77133909	+	Missense_Mutation	SNP	A	A	T			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr18:77133909A>T	uc002lmx.3	+	27	3096	c.3082A>T	c.(3082-3084)Atg>Ttg	p.M1028L	ATP9B_uc002lmw.1_Missense_Mutation_p.M1028L|ATP9B_uc002lna.3_Missense_Mutation_p.M54L|ATP9B_uc002lnb.1_Missense_Mutation_p.H126L|ATP9B_uc010drb.3_Non-coding_Transcript	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	1028					ATP biosynthetic process	integral to 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			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CGGCATCCTCATGTATGGGGC	0.567													T	77133909	A	T	77133909	3	4	74	1	0	0	0	0	1	0	0	0	1199	217	8	5	3192	5	ATP9B	18	77133909	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08		77133909	943339	25	4864											
DOT1L	84444	broad.mit.edu	37	19	2216705	2216705	+	Silent	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:2216705G>A	uc002lvc.1	+	5	998	c.231G>A	c.(229-231)cgG>cgA	p.R77R	DOT1L_uc002lvb.4_Silent_p.R783R|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.R77R	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	783						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TGCTGAGGCGGCACCTGAGCC	0.687													A	2216705	G	A	2216705	2	1	74	1	0	0	0	0	0	0	0	1	4709	1190	42	3		3	DOT1L	19	2216705	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		2216705	56912278	26	4865											
FUT5	2527	broad.mit.edu	37	19	5867010	5867010	+	Missense_Mutation	SNP	G	G	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:5867010G>C	uc002mdo.4	-	1	898	c.727C>G	c.(727-729)Ccc>Gcc	p.P243A	FUT5_uc010duo.3_Missense_Mutation_p.P243A|FUT5_uc021uno.1_Missense_Mutation_p.P243A	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	243					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GTCCCCTTGGGCAGGGGCTTG	0.602													C	5867010	G	C	5867010	3	2	74	1	0	0	0	0	1	0	0	0	6107	1203	42	5	401	5	FUT5	19	5867010	Missense_Mutation	SNP	G	TCGA-06-1806-01A-02D-1845-08	3650305	5867010	53261973	27	4866											
NOSIP	51070	broad.mit.edu	37	19	50059597	50059597	+	Missense_Mutation	SNP	G	G	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:50059597G>A	uc002pok.3	-	8	963	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	NOSIP_uc002pol.3_Missense_Mutation_p.R271C	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA.	271					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ATGATGTCGCGGTCTGTGAGT	0.632													A	50059597	G	A	50059597	3	1	74	1	0	0	0	0	1	0	0	0	10545	1116	39	2	102	2	NOSIP	19	50059597	Missense_Mutation	SNP	G	TCGA-06-1806-01A-02D-1845-08	44192587	50059597	9069386	28	4867											
ADAM33	80332	broad.mit.edu	37	20	3652076	3652076	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:3652076T>C	uc002wit.3	-	16	2060	c.1973A>G	c.(1972-1974)cAc>cGc	p.H658R	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.H658R|ADAM33_uc002wis.3_Intron|ADAM33_uc002wiu.3_Intron|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	658	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCCGTGGCTGTGGCAGGCAGT	0.612													C	3652076	T	C	3652076	3	2	74	1	0	0	0	0	1	0	0	0	250	1696	59	4	492	4	ADAM33	20	3652076	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		3652076	59373444	29	4868											
CSRP2BP	57325	broad.mit.edu	37	20	18165284	18165284	+	Missense_Mutation	SNP	A	A	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:18165284A>C	uc021wbb.1	+	8	2460	c.2023A>C	c.(2023-2025)Agt>Cgt	p.S675R	CSRP2BP_uc002wqk.3_Missense_Mutation_p.S547R|CSRP2BP_uc010zru.2_Missense_Mutation_p.S546R	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	675	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CCCAGACTTCAGTGTTGTTGT	0.408													C	18165284	A	C	18165284	3	2	74	1	0	0	0	0	1	0	0	0	3968	188	7	5	2057	5	CSRP2BP	20	18165284	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08	14513208	18165284	44860236	30	4869											
SEMG2	6407	broad.mit.edu	37	20	43851863	43851863	+	Silent	SNP	T	T	A			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:43851863T>A	uc010ggz.3	+	1	1647	c.1590T>A	c.(1588-1590)tcT>tcA	p.S530S	SEMG2_uc002xnk.3_Silent_p.S530S|SEMG2_uc002xnl.3_Silent_p.S410S	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	530	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CTGGTCAATCTGCAGATAGCA	0.388													A	43851863	T	A	43851863	2	1	74	1	0	0	0	0	0	0	0	1	14045	1567	55	5		5	SEMG2	20	43851863	Silent	SNP	T	TCGA-06-1806-01A-02D-1845-08	25686579	43851863	19173657	31	4870											
ARFGAP1	55738	broad.mit.edu	37	20	61910293	61910293	+	Silent	SNP	G	G	A	rs143521520	byFrequency	TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:61910293G>A	uc002yem.3	+	6	685	c.573G>A	c.(571-573)ccG>ccA	p.P191P	ARFGAP1_uc011aas.1_Silent_p.P138P|ARFGAP1_uc011aat.1_Silent_p.P78P|ARFGAP1_uc002yel.3_Silent_p.P191P|ARFGAP1_uc002yen.3_Silent_p.P191P	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	191					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					ACACGCCACCGCCTCAGAAGA	0.597													A	61910293	G	A	61910293	2	1	74	1	0	0	0	0	0	0	0	1	849	1074	38	1		1	ARFGAP1	20	61910293	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08	18058430	61910293	1115227	32	4871											
IFNGR2	3460	broad.mit.edu	37	21	34809223	34809223	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr21:34809223T>C	uc002yrp.4	+	6	1616	c.968T>C	c.(967-969)aTc>aCc	p.I323T	TMEM50B_uc002yrs.2_Intron	NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	323					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GTGTCCATTATCTCGTTTCCG	0.502													C	34809223	T	C	34809223	3	2	74	1	0	0	0	0	1	0	0	0	7550	1435	50	4	994	4	IFNGR2	21	34809223	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		34809223	13320672	33	4872											
SRRD	402055	broad.mit.edu	37	22	26887547	26887547	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr22:26887547T>C	uc010gve.3	+	6	936	c.929T>C	c.(928-930)aTt>aCt	p.I310T	SRRD_uc003acp.4_Missense_Mutation_p.I303T	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	Homo sapiens SRR1 domain containing (SRRD), mRNA.	310					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCCATAGATATTTGGGAGTTT	0.433													C	26887547	T	C	26887547	3	2	74	1	0	0	0	0	1	0	0	0	15166	1493	52	4	955	4	SRRD	22	26887547	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		26887547	24417019	34	4873											
NHS	4810	broad.mit.edu	37	X	17745854	17745854	+	Missense_Mutation	SNP	A	A	G			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chrX:17745854A>G	uc011mix.2	+	6	3966	c.3628A>G	c.(3628-3630)Atg>Gtg	p.M1210V	NHS_uc004cxx.3_Missense_Mutation_p.M1189V|NHS_uc004cxy.3_Missense_Mutation_p.M1033V|NHS_uc004cxz.3_Missense_Mutation_p.M1012V|NHS_uc004cya.3_Missense_Mutation_p.M912V	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1189						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGCAGTTGAGATGGGACCAGA	0.398													G	17745854	A	G	17745854	3	3	74	1	0	0	0	0	1	0	0	0	10411	333	12	4	3692	4	NHS	23	17745854	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08		17745854	137524706	35	4874											
PGAM4	441531	broad.mit.edu	37	X	77224407	77224407	+	Missense_Mutation	SNP	T	T	C			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chrX:77224407T>C	uc004ecy.1	-	0	729	c.729A>G	c.(727-729)atA>atG	p.I243M	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.4_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA.	243					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CCACAGCTTCTATGGCTTTGC	0.567													C	77224407	T	C	77224407	3	2	74	1	0	0	0	0	1	0	0	0	11775	1512	53	4	39	4	PGAM4	23	77224407	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	59478553	77224407	78046153	36	4875											
ATP13A2	23400	broad.mit.edu	37	1	17314833	17314833	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:17314833C>T	uc001baa.2	-	23	2936	c.2746G>A	c.(2746-2748)Gtg>Atg	p.V916M	ATP13A2_uc001bac.2_Missense_Mutation_p.V872M|ATP13A2_uc001bab.2_Missense_Mutation_p.V911M	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	916					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACCATGGGCACGCACTCAATA	0.642													T	17314833	C	T	17314833	3	4	75	1	0	0	0	0	1	0	0	0	1124	536	19	1	1056	1	ATP13A2	1	17314833	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		17314833	231935788	1	4876											
CNKSR1	10256	broad.mit.edu	37	1	26507077	26507077	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:26507077C>T	uc001bln.4	+	1	244	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Silent_p.G62G|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	62	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGGGCGGGGTGGAAC	0.657													T	26507077	C	T	26507077	2	4	75	1	0	0	0	0	0	0	0	1	3606	755	27	1		1	CNKSR1	1	26507077	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	9192244	26507077	222743544	2	4877											
GJB4	127534	broad.mit.edu	37	1	35227182	35227182	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:35227182C>T	uc001bxw.4	+	0	327	c.327C>T	c.(325-327)caC>caT	p.H109H	GJB4_uc001bxv.1_Silent_p.H109H	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	109					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCTGAAACACGGGCCCAATG	0.632													T	35227182	C	T	35227182	2	4	75	1	0	0	0	0	0	0	0	1	6410	535	19	1		1	GJB4	1	35227182	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	8720105	35227182	214023439	3	4878											
MYSM1	114803	broad.mit.edu	37	1	59132729	59132729	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:59132729T>C	uc009wab.2	-	15	2035	c.2012A>G	c.(2011-2013)gAc>gGc	p.D671G	MYSM1_uc001cza.3_Missense_Mutation_p.D77G|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	671	MPN.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AGCTTGTGTGTCAATATCTCG	0.373													C	59132729	T	C	59132729	3	2	75	1	0	0	0	0	1	0	0	0	10101	1667	58	4	494	4	MYSM1	1	59132729	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	23905547	59132729	190117892	4	4879											
LRRC7	57554	broad.mit.edu	37	1	70505050	70505050	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:70505050C>T	uc001dep.3	+	18	3459	c.3429C>T	c.(3427-3429)taC>taT	p.Y1143Y	LRRC7_uc009wbg.3_Silent_p.Y427Y|LRRC7_uc001deq.3_Silent_p.Y384Y	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1143						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGATAGGTACGGCAGACCCC	0.557													T	70505050	C	T	70505050	2	4	75	1	0	0	0	0	0	0	0	1	9020	547	19	1		1	LRRC7	1	70505050	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	11372321	70505050	178745571	5	4880											
TTF2	8458	broad.mit.edu	37	1	117603105	117603105	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:117603105C>T	uc001egy.3	+	1	77	c.57C>T	c.(55-57)gtC>gtT	p.V19V	TTF2_uc001egx.1_Silent_p.V19V	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	19					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGACCGGCGTCCGCGATGGCC	0.582													T	117603105	C	T	117603105	2	4	75	1	0	0	0	0	0	0	0	1	16716	842	30	3		3	TTF2	1	117603105	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	47098055	117603105	131647516	6	4881											
AQP10	89872	broad.mit.edu	37	1	154294516	154294516	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:154294516C>T	uc001feu.3	+	1	253	c.213C>T	c.(211-213)taC>taT	p.Y71Y		NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	71					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGCCATCTACGTGGGTGGTA	0.557													T	154294516	C	T	154294516	2	4	75	1	0	0	0	0	0	0	0	1	822	547	19	1		1	AQP10	1	154294516	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	36691411	154294516	94956105	7	4882											
PIK3C2B	5287	broad.mit.edu	37	1	204410639	204410639	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:204410639T>G	uc001haw.3	-	21	3688	c.3209A>C	c.(3208-3210)aAt>aCt	p.N1070T	PIK3C2B_uc010pqv.2_Missense_Mutation_p.N1042T	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1070					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGATCCACATTTTGGAAGGA	0.527													G	204410639	T	G	204410639	3	3	75	1	0	0	0	0	1	0	0	0	11910	1493	52	5	1747	5	PIK3C2B	1	204410639	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	50116123	204410639	44839982	8	4883											
CHRM3	1131	broad.mit.edu	37	1	240071079	240071079	+	Silent	SNP	C	C	T	rs111407169	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:240071079C>T	uc021plc.1	+	0	328	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	CHRM3_uc001hyp.3_Silent_p.L110L	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	110					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			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)	CCTCTTAAGCCTGGCCTGTGC	0.478													T	240071079	C	T	240071079	2	4	75	1	0	0	0	0	0	0	0	1	3378	680	24	3		3	CHRM3	1	240071079	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	35660440	240071079	9179542	9	4884											
FAM136A	84908	broad.mit.edu	37	2	70524463	70524463	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:70524463C>T	uc002sgq.4	-	2	452	c.375G>A	c.(373-375)atG>atA	p.M125I	FAM136A_uc010fdp.3_Non-coding_Transcript	NM_032822	NP_116211	Q96C01	F136A_HUMAN	Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.	125						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCTTCTTGGTCATAGTTGGGA	0.433													T	70524463	C	T	70524463	3	4	75	1	0	0	0	0	1	0	0	0	5450	826	29	3	45	3	FAM136A	2	70524463	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		70524463	172674910	10	4885											
NAT8B	51471	broad.mit.edu	37	2	73928290	73928290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:73928290C>T	uc002sjk.1	-	1	175	c.140G>A	c.(139-141)gGg>gAg	p.G47E		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	Homo sapiens N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) (NAT8B), mRNA.	48					gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity										AAGGGCCCCCCCAAGTAAGAG	0.612													T	73928290	C	T	73928290	3	4	75	1	0	0	0	0	1	0	0	0	10180	623	22	3	544	3	NAT8B	2	73928290	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	3403827	73928290	169271083	11	4886											
CCDC138	165055	broad.mit.edu	37	2	109410997	109410997	+	Silent	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:109410997T>C	uc002ten.1	+	5	455	c.395_splice	c.e5-1	p.V132_splice	CCDC138_uc002teo.1_Splice_Site_p.V132_splice|CCDC138_uc002tep.1_Splice_Site|CCDC138_uc010fjm.1_Splice_Site	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	132										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TCTTTGCAGTTGCCTTGCCAA	0.363													C	109410997	T	C	109410997	2	2	75	1	0	0	0	0	0	0	0	1	2772	1826	63	4		4	CCDC138	2	109410997	Silent	SNP	T	TCGA-06-2557-01A-01D-1494-08	35482707	109410997	133788376	12	4887											
POTEF	728378	broad.mit.edu	37	2	130877735	130877735	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:130877735G>A	uc010fmh.2	-	2	754	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	118						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCCCAAGCGCCCACCTTGC	0.587													A	130877735	G	A	130877735	2	1	75	1	0	0	0	0	0	0	0	1	12265	1074	38	1		1	POTEF	2	130877735	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08	21466738	130877735	112321638	13	4888											
LRP1B	53353	broad.mit.edu	37	2	141986959	141986959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:141986959C>A	uc002tvj.1	-	5	1615	c.643G>T	c.(643-645)Gag>Tag	p.E215*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	215					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TAGAAAACCTCAATTGTTTCA	0.284										TSP Lung(27;0.18)			A	141986959	C	A	141986959	4	1	75	1	0	0	0	0	0	1	0	0	8955	835	29	5	13500	5	LRP1B	2	141986959	Nonsense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	11109224	141986959	101212414	14	4889											
PLCL1	5334	broad.mit.edu	37	2	198949321	198949321	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:198949321C>T	uc010fsp.3	+	1	1478	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y	PLCL1_uc002uuv.4_Silent_p.Y281Y	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	360					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TAAGGAGATACGAACTTTCTG	0.388													T	198949321	C	T	198949321	2	4	75	1	0	0	0	0	0	0	0	1	12039	547	19	1		1	PLCL1	2	198949321	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	56962362	198949321	44250052	15	4890											
SCN5A	6331	broad.mit.edu	37	3	38622444	38622444	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:38622444G>A	uc021wvo.1	-	15	3258	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	SCN5A_uc021wvk.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvl.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvm.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvn.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvp.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvq.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvr.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvs.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvt.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvu.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvv.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvj.1_Missense_Mutation_p.T935M|SCN5A_uc021wvi.1_Missense_Mutation_p.T935M|SCN5A_uc021wvw.1_Missense_Mutation_p.T680M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1069					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1068V(2)|p.T1069T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCTCCGTGCCCAGGCT	0.627													A	38622444	G	A	38622444	3	1	75	1	0	0	0	0	1	0	0	0	13922	1145	40	1	2892	1	SCN5A	3	38622444	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		38622444	159399986	16	4891											
ABI3BP	25890	broad.mit.edu	37	3	100645260	100645260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:100645260G>A	uc003dun.3	-	1	251	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	ABI3BP_uc003duo.2_Missense_Mutation_p.R49C|ABI3BP_uc003dup.4_Missense_Mutation_p.R49C	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	56						extracellular space		p.R56H(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGACTTGGACGCAAGAACTTC	0.448													A	100645260	G	A	100645260	3	1	75	1	0	0	0	0	1	0	0	0	91	1087	38	1	3197	1	ABI3BP	3	100645260	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	62022816	100645260	97377170	17	4892											
ZPLD1	131368	broad.mit.edu	37	3	102157373	102157373	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:102157373G>A	uc003dvt.1	+	1	190	c.90G>A	c.(88-90)gtG>gtA	p.V30V	ZPLD1_uc003dvs.1_Silent_p.V14V|ZPLD1_uc011bhg.1_Silent_p.V14V	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	14						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAATTAGAGTGCTTCCGGGGT	0.433													A	102157373	G	A	102157373	2	1	75	1	0	0	0	0	0	0	0	1	18218	1306	46	3		3	ZPLD1	3	102157373	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08	1512113	102157373	95865057	18	4893											
CCDC37	348807	broad.mit.edu	37	3	126153142	126153142	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:126153142G>A	uc010hsg.1	+	13	1608	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	CCDC37_uc003eiu.1_Missense_Mutation_p.E516K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	516										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCAGCTGGATGAGCTGCTAGA	0.622													A	126153142	G	A	126153142	3	1	75	1	0	0	0	0	1	0	0	0	2809	1291	45	3	1600	3	CCDC37	3	126153142	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	23995769	126153142	71869288	19	4894											
B3GALNT1	8706	broad.mit.edu	37	3	160804500	160804500	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:160804500G>C	uc003fdv.3	-	4	462	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	B3GALNT1_uc003fdw.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdx.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdy.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdz.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fea.3_Missense_Mutation_p.L15V|B3GALNT1_uc011bpa.2_Missense_Mutation_p.L15V|B3GALNT1_uc021xgw.1_Missense_Mutation_p.L15V	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	15					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			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)			AGGGATCTCAGTGACATCCTA	0.527													C	160804500	G	C	160804500	3	2	75	1	0	0	0	0	1	0	0	0	1245	1020	36	5	956	5	B3GALNT1	3	160804500	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	34651358	160804500	37217930	20	4895											
ZNF391	346157	broad.mit.edu	37	6	27368167	27368167	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:27368167G>A	uc003njf.1	+	2	536	c.18G>A	c.(16-18)ggG>ggA	p.G6G	ZNF391_uc021ypw.1_Silent_p.G6G	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCTCAGAGGGAATACTGCTC	0.423													A	27368167	G	A	27368167	2	1	75	1	0	0	0	0	0	0	0	1	17876	1161	41	3		3	ZNF391	6	27368167	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		27368167	143746900	21	4896											
CCHCR1	54535	broad.mit.edu	37	6	31124628	31124628	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:31124628A>G	uc003nsp.4	-	2	566	c.377T>C	c.(376-378)cTg>cCg	p.L126P	CCHCR1_uc011dne.2_Missense_Mutation_p.L37P|CCHCR1_uc003nsq.4_Intron|CCHCR1_uc003nsr.4_Missense_Mutation_p.L37P|CCHCR1_uc010jsk.1_Missense_Mutation_p.L37P|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	37					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGGTTGGACCAGGGGAATGTC	0.577													G	31124628	A	G	31124628	3	3	75	1	0	0	0	0	1	0	0	0	2877	188	7	4	2302	4	CCHCR1	6	31124628	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	3756461	31124628	139990439	22	4897											
TREML2	79865	broad.mit.edu	37	6	41166083	41166083	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:41166083T>C	uc010jxm.1	-	1	319	c.140A>G	c.(139-141)aAa>aGa	p.K47R		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	47	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.W47L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACGCGGTTTTTGTAGCCCTT	0.537													C	41166083	T	C	41166083	3	2	75	1	0	0	0	0	1	0	0	0	16470	1841	64	4	841	4	TREML2	6	41166083	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	10041455	41166083	129948984	23	4898											
SGK1	6446	broad.mit.edu	37	6	134493394	134493394	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:134493394G>A	uc003qen.4	-	7	812	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SGK1_uc003qeo.4_Silent_p.F336F|SGK1_uc011ect.2_Silent_p.F231F|SGK1_uc011ecu.2_Silent_p.F197F|SGK1_uc011ecv.2_Silent_p.F255F|SGK1_uc011ecw.2_Silent_p.F269F	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	241	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCAGAGTCCGAAGTCAGTAA	0.448													A	134493394	G	A	134493394	2	1	75	1	0	0	0	0	0	0	0	1	14207	1049	37	2		2	SGK1	6	134493394	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08	93327311	134493394	36621673	24	4899											
KBTBD2	25948	broad.mit.edu	37	7	32909459	32909459	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:32909459G>T	uc003tdb.2	-	3	2029	c.1370C>A	c.(1369-1371)aCt>aAt	p.T457N	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	457										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GGACCTACTAGTCTGTCTCAT	0.438													T	32909459	G	T	32909459	3	4	75	1	0	0	0	0	1	0	0	0	7993	1029	36	5	505	5	KBTBD2	7	32909459	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		32909459	126229204	25	4900											
IKZF1	10320	broad.mit.edu	37	7	50467932	50467932	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:50467932C>T	uc003tow.4	+	7	1322	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	IKZF1_uc022acq.1_Silent_p.S246S|IKZF1_uc003tpa.4_Silent_p.S154S|IKZF1_uc022acr.1_Silent_p.S164S|IKZF1_uc022acs.1_Silent_p.S119S|IKZF1_uc022act.1_Silent_p.S292S|IKZF1_uc022acu.1_Silent_p.S302S|IKZF1_uc003tox.4_Silent_p.S347S|IKZF1_uc022acv.1_Silent_p.S250S|IKZF1_uc022acw.1_Silent_p.S260S|IKZF1_uc022acx.1_Silent_p.S302S|IKZF1_uc022acy.1_Silent_p.S196S|IKZF1_uc022acz.1_Silent_p.S206S|IKZF1_uc011kck.2_Silent_p.S302S|IKZF1_uc003toy.4_Silent_p.S347S|IKZF1_uc003toz.4_Silent_p.S359S|IKZF1_uc010kyx.3_Silent_p.S129S	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	389					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCGAGGCGTCCCCGAGCAACA	0.672			"D,T"	BCL6	"ALL, DLBCL"								T	50467932	C	T	50467932	2	4	75	1	0	0	0	0	0	0	0	1	7614	610	22	3		3	IKZF1	7	50467932	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	17558473	50467932	108670731	26	4901											
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221821	G	A	55221821	3	1	75	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	4753889	55221821	103916842	27	4902											
SEMA3C	10512	broad.mit.edu	37	7	80387708	80387708	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:80387708G>A	uc011kgw.2	-	14	1715	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	SEMA3C_uc003uhj.3_Missense_Mutation_p.R528W	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	528					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAAGGGTCCCGCGCCAGGCAG	0.527													A	80387708	G	A	80387708	3	1	75	1	0	0	0	0	1	0	0	0	14026	1086	38	1	689	1	SEMA3C	7	80387708	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	25165887	80387708	78750955	28	4903											
NPTX2	4885	broad.mit.edu	37	7	98257875	98257875	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:98257875C>T	uc003upl.2	+	4	1407	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	410	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.V410V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAATAACGTCGATGTGTTCG	0.582													T	98257875	C	T	98257875	2	4	75	1	0	0	0	0	0	0	0	1	10603	871	31	2		2	NPTX2	7	98257875	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	17870167	98257875	60880788	29	4904											
MUC17	140453	broad.mit.edu	37	7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	rs141608296		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100678887C>T	uc003uxp.1	+	2	4243	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1397	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					GGAACCACTCCGTTAACAAGT	0.507													T	100678887	C	T	100678887	3	4	75	1	0	0	0	0	1	0	0	0	9974	652	23	2	4200	2	MUC17	7	100678887	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	2421012	100678887	58459776	30	4905											
FIS1	51024	broad.mit.edu	37	7	100887381	100887381	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100887381A>T	uc003uyj.4	-	1	171	c.85T>A	c.(85-87)Tcg>Acg	p.S29T	FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Intron	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN	Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.	29					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGGACACCGAGCCTGCTGCC	0.512											OREG0018218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	100887381	A	T	100887381	3	4	75	1	0	0	0	0	1	0	0	0	5897	304	11	5	389	5	FIS1	7	100887381	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	208494	100887381	58251282	31	4906											
DUS4L	11062	broad.mit.edu	37	7	107214222	107214222	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:107214222T>G	uc003veh.3	+	4	645	c.312T>G	c.(310-312)tgT>tgG	p.C104W	DUS4L_uc011klw.2_Intron|DUS4L_uc011klx.2_5'UTR|DUS4L_uc022ajw.1_Intron|DUS4L_uc010ljl.3_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.	104					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						GTATAGTCTGTCCTTATGCGA	0.383													G	107214222	T	G	107214222	3	3	75	1	0	0	0	0	1	0	0	0	4808	1673	58	5	322	5	DUS4L	7	107214222	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	6326841	107214222	51924441	32	4907											
RHOBTB2	23221	broad.mit.edu	37	8	22864290	22864290	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:22864290G>A	uc003xcp.2	+	6	881	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	RHOBTB2_uc011kzp.1_Missense_Mutation_p.A185T|RHOBTB2_uc003xcq.2_Missense_Mutation_p.A178T|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	178	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCGGGAGGTGGCCAAGGAGCT	0.577													A	22864290	G	A	22864290	3	1	75	1	0	0	0	0	1	0	0	0	13334	1203	42	3	631	3	RHOBTB2	8	22864290	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		22864290	123499732	33	4908											
TEX15	56154	broad.mit.edu	37	8	30699744	30699744	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:30699744T>C	uc003xil.3	-	0	6790	c.6790A>G	c.(6790-6792)Aag>Gag	p.K2264E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2264										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)		TGTAAAATCTTCCTTCTGTTA	0.313													C	30699744	T	C	30699744	3	2	75	1	0	0	0	0	1	0	0	0	15776	1792	62	4	1595	4	TEX15	8	30699744	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	7835454	30699744	115664278	34	4909											
PLEC	5339	broad.mit.edu	37	8	144993481	144993481	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:144993481G>A	uc003zaf.1	-	31	11089	c.10919C>T	c.(10918-10920)gCg>gTg	p.A3640V	PLEC_uc003zab.1_Missense_Mutation_p.A3503V|PLEC_uc003zac.1_Missense_Mutation_p.A3507V|PLEC_uc003zad.2_Missense_Mutation_p.A3503V|PLEC_uc003zae.1_Missense_Mutation_p.A3471V|PLEC_uc003zag.1_Missense_Mutation_p.A3481V|PLEC_uc003zah.2_Missense_Mutation_p.A3489V|PLEC_uc003zaj.2_Missense_Mutation_p.A3530V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3640	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGGGGTCCGCCAGGACGCG	0.662													A	144993481	G	A	144993481	3	1	75	1	0	0	0	0	1	0	0	0	12052	1087	38	1	3139	1	PLEC	8	144993481	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	114293737	144993481	1370541	35	4910											
CDKN2A	1029	broad.mit.edu	37	9	21971124	21971125	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr9:21971124_21971125delGA	uc003zpk.3	-	1	539_540	c.233_234delTC	c.(232-234)ctcfs	p.L78fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Del_p.L78fs|CDKN2A_uc003zpl.3_Frame_Shift_Del_p.S92fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	78					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L78fs*41(29)|p.L78fs*67(2)|p.E61_L94del(2)|p.T77fs*43(2)|p.L78H(2)|p.L65fs*38(1)|p.0(1)|p.L78fs*68(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.T77S(1)|p.T77fs*69(1)|p.H134fs*41(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGTCGGGTGAGAGTGGCGGG	0.723		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			-	21971125	GA	-	21971124	7	5	75	1	0	1	0	1	0	0	0	0	3161	1290	45	0	244	0	CDKN2A	9	21971124	Frame_Shift_Del	DEL	GA	TCGA-06-2557-01A-01D-1494-08		21971124	119242307	36	4911											
AKR1C3	1645	broad.mit.edu	37	10	5014817	5014817	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr10:5014817T>A	uc001iho.3	+	11	1563	c.722T>A	c.(721-723)cTt>cAt	p.L241H	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Missense_Mutation_p.L241H	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	241					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GACCCAGTCCTTTGTGCCTTG	0.592													A	5014817	T	A	5014817	3	1	75	1	0	0	0	0	1	0	0	0	471	1609	56	5		5	AKR1C3	10	5014817	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08		5014817	130519930	37	4912											
SORCS3	22986	broad.mit.edu	37	10	107015536	107015536	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr10:107015536T>G	uc001kyi.1	+	23	3541	c.3314T>G	c.(3313-3315)gTg>gGg	p.V1105G		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1105						integral to membrane	neuropeptide receptor activity	p.V1105L(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)		CAAGTCATTGTGTATGTCACA	0.438													G	107015536	T	G	107015536	3	3	75	1	0	0	0	0	1	0	0	0	14932	1696	59	5	3408	5	SORCS3	10	107015536	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	102000719	107015536	28519211	38	4913											
MADD	8567	broad.mit.edu	37	11	47307122	47307122	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:47307122G>A	uc001ner.1	+	13	2723	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G	MADD_uc001neq.2_Silent_p.G844G|MADD_uc001nev.1_Silent_p.G801G|MADD_uc001nes.1_Silent_p.G801G|MADD_uc001net.1_Silent_p.G844G|MADD_uc009yln.1_Silent_p.G801G|MADD_uc001neu.1_Silent_p.G801G|MADD_uc001nez.2_Silent_p.G801G|MADD_uc001new.2_Silent_p.G844G|MADD_uc001nex.2_Silent_p.G844G	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	844					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.G844W(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGGGCTTCGGGGGCATCATGT	0.532													A	47307122	G	A	47307122	2	1	75	1	0	0	0	0	0	0	0	1	9152	1219	43	3		3	MADD	11	47307122	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		47307122	87699394	39	4914											
OR5T3	390154	broad.mit.edu	37	11	56019879	56019879	+	Silent	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:56019879C>A	uc010rjd.2	+	0	204	c.204C>A	c.(202-204)acC>acA	p.T68T		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					ATCTCTTTACCTTGATAGGCA	0.373													A	56019879	C	A	56019879	2	1	75	1	0	0	0	0	0	0	0	1	11183	668	24	5		5	OR5T3	11	56019879	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	8712757	56019879	78986637	40	4915											
MS4A3	932	broad.mit.edu	37	11	59834575	59834575	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:59834575C>T	uc001nom.3	+	4	631	c.503C>T	c.(502-504)tCc>tTc	p.S168F	MS4A3_uc001non.3_Missense_Mutation_p.S122F|MS4A3_uc001noo.3_Missense_Mutation_p.S45F	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	168						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TACATGGGCTCCATATCAAAT	0.343													T	59834575	C	T	59834575	3	4	75	1	0	0	0	0	1	0	0	0	9861	855	30	3	517	3	MS4A3	11	59834575	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	3814696	59834575	75171941	41	4916											
AHNAK	79026	broad.mit.edu	37	11	62300927	62300927	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:62300927T>G	uc001ntl.3	-	4	1262	c.962A>C	c.(961-963)gAg>gCg	p.E321A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	321					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCTGGCCCTCACGCCCTGT	0.552													G	62300927	T	G	62300927	3	3	75	1	0	0	0	0	1	0	0	0	414	1551	54	5	16830	5	AHNAK	11	62300927	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	2466352	62300927	72705589	42	4917											
FLRT1	23769	broad.mit.edu	37	11	63884137	63884137	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:63884137A>G	uc021qks.1	+	0	398	c.398A>G	c.(397-399)cAc>cGc	p.H133R	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.H133R	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	105					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CGGGAGCTGCACCTGCAGGAC	0.602													G	63884137	A	G	63884137	3	3	75	1	0	0	0	0	1	0	0	0	5938	159	6	4	400	4	FLRT1	11	63884137	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	1583210	63884137	71122379	43	4918											
KAT5	10524	broad.mit.edu	37	11	65482151	65482151	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:65482151C>T	uc001ofi.3	+	7	1043	c.777C>T	c.(775-777)gtC>gtT	p.V259V	KAT5_uc001ofj.3_Silent_p.V207V|KAT5_uc001ofk.3_Silent_p.V292V|KAT5_uc010roo.2_Silent_p.V240V|KAT5_uc001ofl.3_Silent_p.V48V	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	259					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CATTGCCTGTCCTCTACCTGT	0.582													T	65482151	C	T	65482151	2	4	75	1	0	0	0	0	0	0	0	1	7983	842	30	3		3	KAT5	11	65482151	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	1598014	65482151	69524365	44	4919											
APOBEC1	339	broad.mit.edu	37	12	7805333	7805333	+	Missense_Mutation	SNP	C	C	T	rs149648198		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:7805333C>T	uc001qtb.3	-	2	177	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	APOBEC1_uc001qtc.3_Missense_Mutation_p.R3Q	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	48					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CCAGATCTTCCGGCTCATGCC	0.453													T	7805333	C	T	7805333	3	4	75	1	0	0	0	0	1	0	0	0	787	652	23	2	579	2	APOBEC1	12	7805333	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		7805333	126046562	45	4920											
ATF7IP	55729	broad.mit.edu	37	12	14589059	14589059	+	Missense_Mutation	SNP	A	A	T	rs141409610		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:14589059A>T	uc001rbw.3	+	3	1823	c.1665A>T	c.(1663-1665)aaA>aaT	p.K555N	ATF7IP_uc010shs.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbu.3_Missense_Mutation_p.K555N|ATF7IP_uc001rbv.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbx.3_Missense_Mutation_p.K554N|ATF7IP_uc010sht.1_Missense_Mutation_p.K555N|ATF7IP_uc001rby.4_Missense_Mutation_p.K555N|ATF7IP_uc001rca.3_Missense_Mutation_p.K555N	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	555	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTAGACGAAAACGTTCTAAAT	0.348													T	14589059	A	T	14589059	3	4	75	1	0	0	0	0	1	0	0	0	1087	40	2	5	1675	5	ATF7IP	12	14589059	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	6783726	14589059	119262836	46	4921											
FAM113B	91523	broad.mit.edu	37	12	47629951	47629951	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:47629951G>A	uc001rpq.3	+	1	1630	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	FAM113B_uc001rpn.3_Missense_Mutation_p.V369I|FAM113B_uc021qxi.1_Missense_Mutation_p.V369I	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	369	Pro-rich.						hydrolase activity	p.F368F(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					AGGTTTCTTCGTCGAAGACAA	0.527													A	47629951	G	A	47629951	3	1	75	1	0	0	0	0	1	0	0	0	5402	1145	40	1	1107	1	FAM113B	12	47629951	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	33040892	47629951	86221944	47	4922											
KRT84	3890	broad.mit.edu	37	12	52779219	52779219	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:52779219C>A	uc001sah.1	-	0	199	c.151G>T	c.(151-153)Ggt>Tgt	p.G51C		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	51	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCGACTACCAAAGCTGCCA	0.582													A	52779219	C	A	52779219	3	1	75	1	0	0	0	0	1	0	0	0	8498	594	21	5	1687	5	KRT84	12	52779219	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	5149268	52779219	81072676	48	4923											
KRT76	51350	broad.mit.edu	37	12	53164870	53164870	+	Missense_Mutation	SNP	C	C	T	rs143394911	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:53164870C>T	uc001sax.3	-	6	1451	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	466	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGTAGTCACGCAGGAGCCG	0.602													T	53164870	C	T	53164870	3	4	75	1	0	0	0	0	1	0	0	0	8489	536	19	1	531	1	KRT76	12	53164870	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	385651	53164870	80687025	49	4924											
MMAB	326625	broad.mit.edu	37	12	109994906	109994906	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:109994906G>A	uc001tou.3	-	8	753	c.680C>T	c.(679-681)gCa>gTa	p.A227V	MMAB_uc001tov.3_Non-coding_Transcript|MMAB_uc010sxq.2_Missense_Mutation_p.A136V	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	227					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCATGGCTGCATATCTGGC	0.473													A	109994906	G	A	109994906	3	1	75	1	0	0	0	0	1	0	0	0	9640	1319	46	3	76	3	MMAB	12	109994906	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	56830036	109994906	23856989	50	4925											
ZNF410	57862	broad.mit.edu	37	14	74360573	74360573	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:74360573T>C	uc010arz.2	+	2	557	c.107T>C	c.(106-108)aTt>aCt	p.I36T	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Missense_Mutation_p.I36T|ZNF410_uc001xpb.2_Missense_Mutation_p.I36T|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Missense_Mutation_p.I36T	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTAAAGATATTACTTGCTTG	0.443													C	74360573	T	C	74360573	3	2	75	1	0	0	0	0	1	0	0	0	17887	1493	52	4	113	4	ZNF410	14	74360573	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08		74360573	32988967	51	4926											
GPR65	8477	broad.mit.edu	37	14	88478073	88478073	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:88478073C>T	uc021rxh.1	+	0	882	c.882C>T	c.(880-882)acC>acT	p.T294T	GPR65_uc001xvv.3_Silent_p.T294T	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	294					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTTTTGTAACCGAAACAGGAA	0.353													T	88478073	C	T	88478073	2	4	75	1	0	0	0	0	0	0	0	1	6706	639	23	2		2	GPR65	14	88478073	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	14117500	88478073	18871467	52	4927											
DICER1	23405	broad.mit.edu	37	14	95557393	95557393	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:95557393C>T	uc001ydw.2	-	26	5793	c.5581G>A	c.(5581-5583)Gaa>Aaa	p.E1861K	DICER1_uc010avh.1_Missense_Mutation_p.E759K|DICER1_uc021sbc.1_Nonsense_Mutation_p.W1806*|DICER1_uc001ydv.2_Missense_Mutation_p.E1851K|DICER1_uc001ydx.2_Missense_Mutation_p.E1861K	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1861	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTTTCTGGTTCCATTTCAAGC	0.323			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				T	95557393	C	T	95557393	3	4	75	1	0	0	0	0	1	0	0	0	4521	864	30	3	195	3	DICER1	14	95557393	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	7079320	95557393	11792147	53	4928											
ZSCAN2	54993	broad.mit.edu	37	15	85164337	85164337	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr15:85164337A>G	uc002bkr.3	+	2	1137	c.911A>G	c.(910-912)aAg>aGg	p.K304R	ZSCAN2_uc010bmz.1_Missense_Mutation_p.K302R|ZSCAN2_uc010bna.3_Missense_Mutation_p.K154R|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	304					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACGGGGGAAAAGCCCTTCCAG	0.577													G	85164337	A	G	85164337	3	3	75	1	0	0	0	0	1	0	0	0	18228	72	3	4	1007	4	ZSCAN2	15	85164337	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08		85164337	17367055	54	4929											
PDZD9	255762	broad.mit.edu	37	16	21995750	21995750	+	Silent	SNP	G	G	A	rs146108684	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:21995750G>A	uc021ter.1	-	2	516	c.453C>T	c.(451-453)gaC>gaT	p.D151D	PDZD9_uc002dka.2_Silent_p.D149D	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	Homo sapiens PDZ domain containing 9 (PDZD9), transcript variant 1, mRNA.	211								p.D150E(1)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						CTTTCTTGTCGTCTCTGTGAA	0.423													A	21995750	G	A	21995750	2	1	75	1	0	0	0	0	0	0	0	1	11706	1136	40	1		1	PDZD9	16	21995750	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		21995750	68359003	55	4930											
IL27	246778	broad.mit.edu	37	16	28515112	28515112	+	Silent	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:28515112C>T	uc002dqc.3	-	2	230	c.207G>A	c.(205-207)gcG>gcA	p.A69A	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	69					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GGTGAGATTCCGCCTGGGGGG	0.632													T	28515112	C	T	28515112	2	4	75	1	0	0	0	0	0	0	0	1	7680	639	23	2		2	IL27	16	28515112	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	6519362	28515112	61839641	56	4931											
HEATR3	55027	broad.mit.edu	37	16	50106625	50106625	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:50106625G>A	uc002efw.3	+	5	784	c.622_splice	c.e5+1	p.A208_splice	HEATR3_uc021thv.1_Splice_Site_p.A122_splice|HEATR3_uc002efx.3_Splice_Site_p.A122_splice	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	208							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TATTTCAGTAGGTAAGTGAAG	0.348													A	50106625	G	A	50106625	3	1	75	1	0	0	0	0	1	0	0	0	7029	1014	35	3	640	3	HEATR3	16	50106625	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	21591513	50106625	40248128	57	4932											
RABEP1	9135	broad.mit.edu	37	17	5286437	5286437	+	Silent	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr17:5286437G>A	uc002gbm.4	+	17	2732	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	RABEP1_uc010vsw.1_Silent_p.R793R|RABEP1_uc002gbl.4_Silent_p.R803R|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	836					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	p.R836R(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCGGATCCGGCAAGCTGACT	0.473													A	5286437	G	A	5286437	2	1	75	1	0	0	0	0	0	0	0	1	12961	1190	42	3		3	RABEP1	17	5286437	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		5286437	75908773	58	4933											
MYH13	8735	broad.mit.edu	37	17	10215363	10215363	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr17:10215363C>T	uc002gmk.1	-	31	4486	c.4396G>A	c.(4396-4398)Gaa>Aaa	p.E1466K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1466					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTGGCTTTCGTCCAGCTTT	0.517													T	10215363	C	T	10215363	3	4	75	1	0	0	0	0	1	0	0	0	10032	893	31	2	1460	2	MYH13	17	10215363	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	4928926	10215363	70979847	59	4934											
ATG4D	84971	broad.mit.edu	37	19	10655709	10655709	+	Silent	SNP	T	T	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:10655709T>G	uc002mov.3	+	2	516	c.396T>G	c.(394-396)ccT>ccG	p.P132P	ATG4D_uc010xlg.2_Silent_p.P155P|ATG4D_uc010xlh.2_Silent_p.P69P|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_5'UTR	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	132					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGCCCCTTCCTGGGGGCTGCC	0.632													G	10655709	T	G	10655709	2	3	75	1	0	0	0	0	0	0	0	1	1099	1567	55	5		5	ATG4D	19	10655709	Silent	SNP	T	TCGA-06-2557-01A-01D-1494-08		10655709	48473274	60	4935											
ZNF208	7757	broad.mit.edu	37	19	22156647	22156647	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:22156647A>G	uc021urr.1	-	3	1338	c.1189T>C	c.(1189-1191)Tac>Cac	p.Y397H	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				TCACATTTGTAGGGTTTCTCT	0.388													G	22156647	A	G	22156647	3	3	75	1	0	0	0	0	1	0	0	0	17763	420	15	4	2657	4	ZNF208	19	22156647	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	11500938	22156647	36972336	61	4936											
TRPM4	54795	broad.mit.edu	37	19	49671909	49671910	+	In_Frame_Ins	INS	-	-	GCA			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:49671909_49671910insGCA	uc002pmw.3	+	5	820_821	c.712_713insGCA	c.(712-714)ggc>gGCAgc	p.238_239insS	TRPM4_uc010emu.3_In_Frame_Ins_p.238_239insS|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_In_Frame_Ins_p.64_65insS|TRPM4_uc010emv.3_In_Frame_Ins_p.123_124insS|TRPM4_uc010yal.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	238					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			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)		GGTGGACGACGGCACACACGGC	0.658													GCA	49671910	-	GCA	49671909	7	5	75	1	0	1	1	0	0	0	0	0	16585	1116	39	0	734	0	TRPM4	19	49671909	In_Frame_Ins	INS	-	TCGA-06-2557-01A-01D-1494-08	27515262	49671909	9457074	62	4937											
LENG1	79165	broad.mit.edu	37	19	54660572	54660573	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:54660572_54660573delTC	uc002qdm.3	-	2	516_517	c.503_504delGA	c.(502-504)agafs	p.R168fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	168										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCCGTGCTGTCTCTTCTTCCC	0.634													-	54660573	TC	-	54660572	7	5	75	1	0	1	0	1	0	0	0	0	8723	1664	58	0	298	0	LENG1	19	54660572	Frame_Shift_Del	DEL	TC	TCGA-06-2557-01A-01D-1494-08	4988663	54660572	4468411	63	4938											
NAPB	63908	broad.mit.edu	37	20	23383673	23383673	+	Nonsense_Mutation	SNP	A	A	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr20:23383673A>T	uc002wtb.3	-	1	252	c.135T>A	c.(133-135)taT>taA	p.Y45*	NAPB_uc002wta.3_Nonsense_Mutation_p.Y45*|NAPB_uc002wtc.3_5'UTR|NAPB_uc002wtd.4_Non-coding_Transcript|NAPB_uc010zst.1_Nonsense_Mutation_p.Y45*	NM_022080	NP_071363	Q9H115	SNAB_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, beta (NAPB), mRNA.	45					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CAGCTCTGGTATACATTTCAC	0.338													T	23383673	A	T	23383673	4	4	75	1	0	0	0	0	0	1	0	0	10162	456	16	5	801	5	NAPB	20	23383673	Nonsense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08		23383673	39641847	64	4939											
MOCS3	27304	broad.mit.edu	37	20	49576077	49576077	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr20:49576077C>T	uc002xvy.1	+	0	715	c.698C>T	c.(697-699)gCg>gTg	p.A233V	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	233					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CCACCCCCAGCGGAGACAGTG	0.622													T	49576077	C	T	49576077	3	4	75	1	0	0	0	0	1	0	0	0	9692	768	27	1	700	1	MOCS3	20	49576077	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	26192404	49576077	13449443	65	4940											
PRDM15	63977	broad.mit.edu	37	21	43279747	43279747	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr21:43279747C>T	uc002yzq.1	-	8	1096	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	PRDM15_uc002yzo.3_Missense_Mutation_p.G66S|PRDM15_uc002yzp.3_Missense_Mutation_p.G66S|PRDM15_uc002yzr.1_Missense_Mutation_p.G66S	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACCACTGGGCCCAGCTCGGGA	0.597													T	43279747	C	T	43279747	3	4	75	1	0	0	0	0	1	0	0	0	12456	623	22	3	3630	3	PRDM15	21	43279747	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		43279747	4850148	66	4941											
SEC14L3	266629	broad.mit.edu	37	22	30857619	30857619	+	Silent	SNP	G	G	A	rs139964800	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr22:30857619G>A	uc003ahy.3	-	9	923	c.834C>T	c.(832-834)taC>taT	p.Y278Y	SEC14L3_uc003ahz.3_Silent_p.Y201Y|SEC14L3_uc003aia.3_Silent_p.Y219Y|SEC14L3_uc003aib.3_Silent_p.Y219Y	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	278	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CCGAGTGCTCGTACTGAGTCT	0.572													A	30857619	G	A	30857619	2	1	75	1	0	0	0	0	0	0	0	1	13983	1140	40	1		1	SEC14L3	22	30857619	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		30857619	20446947	67	4942											
MAGEB6	158809	broad.mit.edu	37	X	26212711	26212711	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chrX:26212711G>A	uc022buc.1	+	0	748	c.748G>A	c.(748-750)Gtt>Att	p.V250I	MAGEB6_uc004dbr.3_Missense_Mutation_p.V250I	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	250	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCCTTTGGCGTTGAATTGAA	0.517													A	26212711	G	A	26212711	3	1	75	1	0	0	0	0	1	0	0	0	9179	1145	40	1	750	1	MAGEB6	23	26212711	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		26212711	129057849	68	4943											
AADACL4	343066	broad.mit.edu	37	1	12726621	12726621	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:12726621G>A	uc001auf.3	+	3	1099	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	367						integral to membrane	carboxylesterase activity	p.R366P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGGGGTCCGCGTGACATGGTA	0.493													A	12726621	G	A	12726621	3	1	76	1	0	0	0	0	1	0	0	0	13	1145	40	1	1113	1	AADACL4	1	12726621	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		12726621	236524000	1	4944											
CNKSR1	10256	broad.mit.edu	37	1	26507045	26507045	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:26507045C>T	uc001bln.4	+	1	212	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.R52W|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	52	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCTGTGCGGTCTCTGGG	0.622													T	26507045	C	T	26507045	3	4	76	1	0	0	0	0	1	0	0	0	3606	759	27	1	160	1	CNKSR1	1	26507045	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	13780424	26507045	222743576	2	4945											
CYP4B1	1580	broad.mit.edu	37	1	47264924	47264924	+	Silent	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:47264924T>C	uc001cqn.4	+	0	255	c.171T>C	c.(169-171)caT>caC	p.H57H	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.H57H|CYP4B1_uc009vym.3_Silent_p.H57H|CYP4B1_uc010omk.2_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	57					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTTTTGGACATGCCCTCGAGG	0.572													C	47264924	T	C	47264924	2	2	76	1	0	0	0	0	0	0	0	1	4185	1461	51	4		4	CYP4B1	1	47264924	Silent	SNP	T	TCGA-06-2558-01A-01D-1494-08	20757879	47264924	201985697	3	4946											
CD101	9398	broad.mit.edu	37	1	117552685	117552685	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:117552685C>T	uc010oxb.1	+	1	315	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CD101_uc009whd.3_Missense_Mutation_p.T86M|CD101_uc010oxc.1_Missense_Mutation_p.T86M|CD101_uc010oxd.1_Missense_Mutation_p.T86M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	86	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGTATATACGCAGCGGGTG	0.532													T	117552685	C	T	117552685	3	4	76	1	0	0	0	0	1	0	0	0	2962	536	19	1	263	1	CD101	1	117552685	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	70287761	117552685	131697936	4	4947											
ACP6	51205	broad.mit.edu	37	1	147119358	147119358	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:147119358G>A	uc001epr.2	-	9	1618	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	385					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GCAACCTCTCGGCACCTGCTC	0.522													A	147119358	G	A	147119358	3	1	76	1	0	0	0	0	1	0	0	0	165	1116	39	2	136	2	ACP6	1	147119358	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	29566673	147119358	102131263	5	4948											
AQP10	89872	broad.mit.edu	37	1	154295505	154295505	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:154295505C>T	uc001feu.3	+	2	320	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	94					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.G93*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCGTTGGACGCCTCCCCTG	0.527													T	154295505	C	T	154295505	3	4	76	1	0	0	0	0	1	0	0	0	822	536	19	1	290	1	AQP10	1	154295505	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	7176147	154295505	94955116	6	4949											
CAMK1G	57172	broad.mit.edu	37	1	209773439	209773439	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:209773439G>A	uc001hhd.3	+	2	306	c.204G>A	c.(202-204)gaG>gaA	p.E68E	CAMK1G_uc001hhf.4_Silent_p.E68E|CAMK1G_uc001hhe.3_Silent_p.E68E	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	68	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGGAGAATGAGATTGCTGTGT	0.453													A	209773439	G	A	209773439	2	1	76	1	0	0	0	0	0	0	0	1	2598	933	33	3		3	CAMK1G	1	209773439	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	55477934	209773439	39477182	7	4950											
GJC2	57165	broad.mit.edu	37	1	228345795	228345795	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:228345795C>T	uc021pkg.1	+	0	336	c.336C>T	c.(334-336)cgC>cgT	p.R112R	GJC2_uc001hsk.3_Silent_p.R112R	NM_020435	NP_065168	Q5T442	CXG2_HUMAN	Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA.	112					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				Agcggcgccgcgccctccgcc	0.766													T	228345795	C	T	228345795	2	4	76	1	0	0	0	0	0	0	0	1	6415	755	27	1		1	GJC2	1	228345795	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	18572356	228345795	20904826	8	4951											
OR2L8	391190	broad.mit.edu	37	1	248112821	248112821	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:248112821T>C	uc001idt.1	+	0	662	c.662T>C	c.(661-663)cTc>cCc	p.L221P	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			GGCCAGGTTCTCTTTGCTGTC	0.463													C	248112821	T	C	248112821	3	2	76	1	0	0	0	0	1	0	0	0	11009	1551	54	4	664	4	OR2L8	1	248112821	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	19767026	248112821	1137800	9	4952											
RNF144A	9781	broad.mit.edu	37	2	7154885	7154885	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:7154885A>G	uc002qys.3	+	4	725	c.283A>G	c.(283-285)Aag>Gag	p.K95E		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	95						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AAGATATAAAAAGCTACAATT	0.368													G	7154885	A	G	7154885	3	3	76	1	0	0	0	0	1	0	0	0	13445	15	1	4	293	4	RNF144A	2	7154885	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08		7154885	236044488	10	4953											
THADA	63892	broad.mit.edu	37	2	43802136	43802136	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:43802136C>T	uc002rsw.4	-	10	1420	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L	THADA_uc002rsx.4_Silent_p.L356L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.L66L|THADA_uc002rta.2_Silent_p.L66L|THADA_uc002rtb.1_Silent_p.L356L|THADA_uc002rtc.4_Silent_p.L356L|THADA_uc002rtd.3_Silent_p.L356L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	356							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGATTCTAGACAGAAACATTT	0.373													T	43802136	C	T	43802136	2	4	76	1	0	0	0	0	0	0	0	1	15837	465	17	3		3	THADA	2	43802136	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	36647251	43802136	199397237	11	4954											
TTC30B	150737	broad.mit.edu	37	2	178416069	178416069	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:178416069A>T	uc002uln.3	-	0	1456	c.1423T>A	c.(1423-1425)Tac>Aac	p.Y475N	TTC30B_uc010zfc.1_Missense_Mutation_p.Y247N	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	475					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCTTTGTATTTGTTTTCC	0.393													T	178416069	A	T	178416069	3	4	76	1	0	0	0	0	1	0	0	0	16696	449	16	5	578	5	TTC30B	2	178416069	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	134613933	178416069	64783304	12	4955											
MYO1B	4430	broad.mit.edu	37	2	192265141	192265141	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:192265141A>G	uc010fsg.2	+	21	2584	c.2329A>G	c.(2329-2331)Aag>Gag	p.K777E	MYO1B_uc002usq.2_Missense_Mutation_p.K777E|MYO1B_uc002usr.2_Missense_Mutation_p.K777E|MYO1B_uc002usu.2_Missense_Mutation_p.K51E	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	777	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			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)			GAAGCATCAAAAGCGCTGTAA	0.473													G	192265141	A	G	192265141	3	3	76	1	0	0	0	0	1	0	0	0	10069	15	1	4	2411	4	MYO1B	2	192265141	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	13849072	192265141	50934232	13	4956											
DNAH7	56171	broad.mit.edu	37	2	196852773	196852773	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:196852773A>G	uc002utj.4	-	12	1635	c.1534T>C	c.(1534-1536)Ttc>Ctc	p.F512L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	512	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						TCTGCGAGGAAGTTATCAACA	0.338													G	196852773	A	G	196852773	3	3	76	1	0	0	0	0	1	0	0	0	4606	72	3	4	10752	4	DNAH7	2	196852773	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	4587632	196852773	46346600	14	4957											
CXCR1	3577	broad.mit.edu	37	2	219029097	219029097	+	Missense_Mutation	SNP	G	G	A	rs61755739		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:219029097G>A	uc021vwq.1	-	0	838	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	CXCR1_uc002vhc.3_Missense_Mutation_p.R280C|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	280					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.R279C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ATGTTGTTGCGGCGCTCACAG	0.572													A	219029097	G	A	219029097	3	1	76	1	0	0	0	0	1	0	0	0	4090	1116	39	2	218	2	CXCR1	2	219029097	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	22176324	219029097	24170276	15	4958											
TRIP12	9320	broad.mit.edu	37	2	230724206	230724206	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:230724206C>T	uc002vpx.1	-	3	418	c.309G>A	c.(307-309)ggG>ggA	p.G103G	TRIP12_uc021vxw.1_Silent_p.G61G|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Silent_p.G61G|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Silent_p.G61G	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	61					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		TAGGCACCTGCCCCGTTTTTT	0.453													T	230724206	C	T	230724206	2	4	76	1	0	0	0	0	0	0	0	1	16553	726	26	3		3	TRIP12	2	230724206	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	11695109	230724206	12475167	16	4959											
RBMS3	27303	broad.mit.edu	37	3	30032579	30032579	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:30032579G>T	uc003cel.3	+	13	1556	c.1186G>T	c.(1186-1188)Gtt>Ttt	p.V396F	RBMS3_uc010hfq.3_Missense_Mutation_p.V393F|RBMS3_uc003cek.3_Missense_Mutation_p.V380F|RBMS3_uc010hfr.3_Missense_Mutation_p.V380F|RBMS3_uc003cem.3_Missense_Mutation_p.V378F	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	396						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TTAGGGTGTTGTTGCTGATAC	0.493													T	30032579	G	T	30032579	3	4	76	1	0	0	0	0	1	0	0	0	13150	1377	48	5	1283	5	RBMS3	3	30032579	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		30032579	167989851	17	4960											
CLASP2	23122	broad.mit.edu	37	3	33584995	33584995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:33584995G>A	uc021wvc.1	-	31	3569	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	CLASP2_uc003cfs.3_Nonsense_Mutation_p.R319*|CLASP2_uc021wva.1_Nonsense_Mutation_p.R194*|CLASP2_uc021wvb.1_Nonsense_Mutation_p.R899*|CLASP2_uc011axt.1_Nonsense_Mutation_p.R712*	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1121										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCTGGTGATCGTGGTGTTGGT	0.373													A	33584995	G	A	33584995	4	1	76	1	0	0	0	0	0	1	0	0	3455	1153	40	1	1218	1	CLASP2	3	33584995	Nonsense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	3552416	33584995	164437435	18	4961											
STAB1	23166	broad.mit.edu	37	3	52550236	52550236	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:52550236G>A	uc003dej.3	+	37	4200	c.4126G>A	c.(4126-4128)Ggg>Agg	p.G1376R	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1376	Laminin EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCCGCTACGGGCCCAACTG	0.697													A	52550236	G	A	52550236	3	1	76	1	0	0	0	0	1	0	0	0	15236	1116	39	2	4276	2	STAB1	3	52550236	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	18965241	52550236	145472194	19	4962											
FAM116A	201627	broad.mit.edu	37	3	57646541	57646541	+	Silent	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:57646541A>G	uc003dja.3	-	6	716	c.645T>C	c.(643-645)ccT>ccC	p.P215P		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	215										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GCACTGGGGCAGGCCATCGAT	0.303													G	57646541	A	G	57646541	2	3	76	1	0	0	0	0	0	0	0	1	5407	175	7	4		4	FAM116A	3	57646541	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	5096305	57646541	140375889	20	4963											
C3orf67	200844	broad.mit.edu	37	3	58739528	58739528	+	Missense_Mutation	SNP	C	C	T	rs139574013		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:58739528C>T	uc003dkt.1	-	14	1956	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H	C3orf67_uc003dkr.1_Non-coding_Transcript|C3orf67_uc003dks.1_Missense_Mutation_p.R457H	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	508										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGAATCTGGACGCTGCTCAGC	0.388													T	58739528	C	T	58739528	3	4	76	1	0	0	0	0	1	0	0	0	2241	536	19	1	152	1	C3orf67	3	58739528	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	1092987	58739528	139282902	21	4964											
PPP4R2	151987	broad.mit.edu	37	3	73114106	73114106	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:73114106C>T	uc003dph.1	+	7	812	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	PPP4R2_uc003dpi.1_Missense_Mutation_p.L191F	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.	248					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	p.R247T(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGTAAAAAGACTCAGGTTTGA	0.433													T	73114106	C	T	73114106	3	4	76	1	0	0	0	0	1	0	0	0	12404	565	20	3	772	3	PPP4R2	3	73114106	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	14374578	73114106	124908324	22	4965											
ABCC5	10057	broad.mit.edu	37	3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:183667646C>T	uc003fmg.3	-	21	3287	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_uc011bqt.2_Missense_Mutation_p.R569H|ABCC5_uc010hxl.3_Intron	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1041	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATTGTCCAGACGCTTCAGCTC	0.562													T	183667646	C	T	183667646	3	4	76	1	0	0	0	0	1	0	0	0	56	536	19	1	1227	1	ABCC5	3	183667646	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	110553540	183667646	14354784	23	4966											
HTR3E	285242	broad.mit.edu	37	3	183824315	183824315	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:183824315G>T	uc010hxr.3	+	6	1477	c.1283G>T	c.(1282-1284)gGg>gTg	p.G428V	HTR3E_uc010hxq.3_Missense_Mutation_p.G402V|HTR3E_uc003fml.4_Missense_Mutation_p.G387V|HTR3E_uc003fmm.3_Missense_Mutation_p.G417V|HTR3E_uc003fmn.3_Missense_Mutation_p.G402V	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	402						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.H428H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGCTGACAGGGGGCTCAGAA	0.612													T	183824315	G	T	183824315	3	4	76	1	0	0	0	0	1	0	0	0	7448	1232	43	5	1280	5	HTR3E	3	183824315	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	156669	183824315	14198115	24	4967											
RGS12	6002	broad.mit.edu	37	4	3427237	3427237	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:3427237T>G	uc003ggw.3	+	13	4185	c.3281T>G	c.(3280-3282)cTg>cGg	p.L1094R	RGS12_uc003ggv.3_Missense_Mutation_p.L1094R|RGS12_uc003ggy.1_Missense_Mutation_p.L492R|RGS12_uc003ggz.3_Missense_Mutation_p.L446R|RGS12_uc010icu.1_Missense_Mutation_p.L293R|RGS12_uc011bvs.2_Missense_Mutation_p.L436R|RGS12_uc003gha.3_Missense_Mutation_p.L436R|RGS12_uc010icv.3_Missense_Mutation_p.L293R|RGS12_uc003ghb.2_Missense_Mutation_p.L293R	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1094	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATATCGAGTCTGGACGGACAG	0.572													G	3427237	T	G	3427237	3	3	76	1	0	0	0	0	1	0	0	0	13295	1580	55	5	3389	5	RGS12	4	3427237	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		3427237	187727039	25	4968											
CLNK	116449	broad.mit.edu	37	4	10567771	10567771	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:10567771T>C	uc003gmo.4	-	5	291	c.154A>G	c.(154-156)Aga>Gga	p.R52G	CLNK_uc003gmp.3_Missense_Mutation_p.R10G	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	52					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GCAAAGTTTCTTTCCTAAGCA	0.458													C	10567771	T	C	10567771	3	2	76	1	0	0	0	0	1	0	0	0	3547	1617	56	4	1188	4	CLNK	4	10567771	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	7140534	10567771	180586505	26	4969											
CORIN	10699	broad.mit.edu	37	4	47625643	47625643	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:47625643C>A	uc003gxm.3	-	18	2578	c.2485G>T	c.(2485-2487)Ggc>Tgc	p.G829C	CORIN_uc011bzf.2_Missense_Mutation_p.G690C|CORIN_uc011bzg.2_Missense_Mutation_p.G762C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	829	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.G829G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGACACAGCCACAGATATGT	0.527													A	47625643	C	A	47625643	3	1	76	1	0	0	0	0	1	0	0	0	3752	594	21	5	659	5	CORIN	4	47625643	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	37057872	47625643	143528633	27	4970											
PDHA2	5161	broad.mit.edu	37	4	96761557	96761557	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:96761557C>T	uc003htr.4	+	0	319	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	86					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R86C(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GAAATTCATTCGCGGTTTCTG	0.517													T	96761557	C	T	96761557	3	4	76	1	0	0	0	0	1	0	0	0	11665	884	31	2	258	2	PDHA2	4	96761557	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	49135914	96761557	94392719	28	4971											
ENPEP	2028	broad.mit.edu	37	4	111464226	111464226	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:111464226G>T	uc003iab.4	+	13	2342	c.2000_splice	c.e13+1	p.R667_splice		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	667					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCCTTGGCAAGGTGCGTTTTA	0.328													T	111464226	G	T	111464226	3	4	76	1	0	0	0	0	1	0	0	0	5128	1014	35	5	2050	5	ENPEP	4	111464226	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	14702669	111464226	79690050	29	4972											
BRIX1	55299	broad.mit.edu	37	5	34924991	34924991	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:34924991C>G	uc003jja.3	+	8	727	c.703C>G	c.(703-705)Cgt>Ggt	p.R235G		NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.	235	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AATAGGACCTCGTTTTGTCTT	0.358													G	34924991	C	G	34924991	3	3	76	1	0	0	0	0	1	0	0	0	1515	884	31	5	737	5	BRIX1	5	34924991	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08		34924991	145990269	30	4973											
CHSY3	337876	broad.mit.edu	37	5	129244015	129244015	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:129244015C>T	uc003kvd.3	+	1	1048	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	350						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAGATGCGTTCGCCGTTTTGG	0.438													T	129244015	C	T	129244015	3	4	76	1	0	0	0	0	1	0	0	0	3413	884	31	2	1054	2	CHSY3	5	129244015	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	94319024	129244015	51671245	31	4974											
CSNK1A1	1452	broad.mit.edu	37	5	148929730	148929730	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:148929730C>T	uc003lqw.1	-	1	618	c.138G>A	c.(136-138)aaG>aaA	p.K46K	CSNK1A1_uc011dcc.2_5'UTR|CSNK1A1_uc003lqx.1_Silent_p.K46K|CSNK1A1_uc003lqy.1_Silent_p.K46K|CSNK1A1_uc010jha.1_Silent_p.K46K	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.	46	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAGATTCTAGCTTCACTGCCA	0.502													T	148929730	C	T	148929730	2	4	76	1	0	0	0	0	0	0	0	1	3950	796	28	3		3	CSNK1A1	5	148929730	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	19685715	148929730	31985530	32	4975											
DSP	1832	broad.mit.edu	37	6	7569463	7569463	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:7569463C>T	uc003mxp.1	+	11	1743	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	DSP_uc003mxq.1_Silent_p.N488N|DSP_uc021yle.1_Silent_p.N488N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	488	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGACAACAACGAGCGCAGCA	0.527													T	7569463	C	T	7569463	2	4	76	1	0	0	0	0	0	0	0	1	4781	535	19	1		1	DSP	6	7569463	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08		7569463	163545604	33	4976											
SRPK1	6732	broad.mit.edu	37	6	35855829	35855829	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:35855829G>C	uc003olj.3	-	4	486	c.362C>G	c.(361-363)gCa>gGa	p.A121G	SRPK1_uc003olh.3_Missense_Mutation_p.A14G|SRPK1_uc003oli.3_Missense_Mutation_p.A14G|SRPK1_uc011dtg.2_Missense_Mutation_p.A105G	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	121	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCATCTAGTGCTGTTTCAGT	0.338													C	35855829	G	C	35855829	3	2	76	1	0	0	0	0	1	0	0	0	15158	1319	46	5	1653	5	SRPK1	6	35855829	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	28286366	35855829	135259238	34	4977											
CDKN1A	1026	broad.mit.edu	37	6	36652137	36652137	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:36652137G>A	uc021yzb.1	+	2	361	c.259G>A	c.(259-261)Gat>Aat	p.D87N	CDKN1A_uc021yzc.1_Missense_Mutation_p.D87N|CDKN1A_uc011dtq.2_Missense_Mutation_p.D121N|CDKN1A_uc003omm.4_Missense_Mutation_p.D87N|CDKN1A_uc003omn.3_Missense_Mutation_p.D87N	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	87					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.R86W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCGAGGCCGGGATGAGTTGGG	0.657													A	36652137	G	A	36652137	3	1	76	1	0	0	0	0	1	0	0	0	3158	1174	41	3	261	3	CDKN1A	6	36652137	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	796308	36652137	134462930	35	4978											
PKHD1	5314	broad.mit.edu	37	6	51910848	51910848	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:51910848G>T	uc003pah.1	-	23	2822	c.2546C>A	c.(2545-2547)aCc>aAc	p.T849N	PKHD1_uc003pai.3_Missense_Mutation_p.T849N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	849					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			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)					CCAGGACAAGGTCCACACGTG	0.463													T	51910848	G	T	51910848	3	4	76	1	0	0	0	0	1	0	0	0	11971	1261	44	5	9893	5	PKHD1	6	51910848	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	15258711	51910848	119204219	36	4979											
HCRTR2	3062	broad.mit.edu	37	6	55113582	55113582	+	Silent	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:55113582A>G	uc003pcl.3	+	1	684	c.369A>G	c.(367-369)ggA>ggG	p.G123G	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Silent_p.G58G	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	123					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTTTTTTGGACAGTCCCTTT	0.428													G	55113582	A	G	55113582	2	3	76	1	0	0	0	0	0	0	0	1	7002	262	10	4		4	HCRTR2	6	55113582	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	3202734	55113582	116001485	37	4980											
SYNE1	23345	broad.mit.edu	37	6	152652051	152652051	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:152652051T>C	uc021zhb.1	-	75	13992	c.13769A>G	c.(13768-13770)aAc>aGc	p.N4590S	SYNE1_uc003qot.4_Missense_Mutation_p.N4519S|SYNE1_uc003qou.4_Missense_Mutation_p.N4590S|SYNE1_uc010kiz.3_Missense_Mutation_p.N345S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4590					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			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)		ATTCATTAGGTTGATTTCAGG	0.353										HNSCC(10;0.0054)			C	152652051	T	C	152652051	3	2	76	1	0	0	0	0	1	0	0	0	15442	1725	60	4	12973	4	SYNE1	6	152652051	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	97538469	152652051	18463016	38	4981											
ADCYAP1R1	117	broad.mit.edu	37	7	31126052	31126052	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:31126052T>A	uc003tca.2	+	9	1013	c.724T>A	c.(724-726)Ttc>Atc	p.F242I	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.F221I|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	242					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTCCAACTACTTCTGGCTGTT	0.542													A	31126052	T	A	31126052	3	1	76	1	0	0	0	0	1	0	0	0	303	1609	56	5	758	5	ADCYAP1R1	7	31126052	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		31126052	128012611	39	4982											
HECW1	23072	broad.mit.edu	37	7	43485123	43485123	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:43485123G>A	uc003tid.1	+	10	2957	c.2352G>A	c.(2350-2352)ccG>ccA	p.P784P	HECW1_uc011kbi.1_Silent_p.P784P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.L784I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAAGAAGCCCGGAAGGTCTGG	0.612													A	43485123	G	A	43485123	2	1	76	1	0	0	0	0	0	0	0	1	7042	1103	39	2		2	HECW1	7	43485123	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	12359071	43485123	115653540	40	4983											
GNAT3	346562	broad.mit.edu	37	7	80091827	80091827	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:80091827G>A	uc011kgu.2	-	5	711	c.711C>T	c.(709-711)gaC>gaT	p.D237D	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	237					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCACTTCTTCGTCTTCCACGA	0.408													A	80091827	G	A	80091827	2	1	76	1	0	0	0	0	0	0	0	1	6513	1136	40	1		1	GNAT3	7	80091827	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	36606704	80091827	79046836	41	4984											
SEMA3C	10512	broad.mit.edu	37	7	80378254	80378254	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:80378254A>G	uc011kgw.2	-	16	1935	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	SEMA3C_uc003uhj.3_Missense_Mutation_p.I601T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	601	Ig-like C2-type.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCCACTTGATAGATGCCTG	0.453													G	80378254	A	G	80378254	3	3	76	1	0	0	0	0	1	0	0	0	14026	333	12	4	461	4	SEMA3C	7	80378254	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	286427	80378254	78760409	42	4985											
CACNA2D1	781	broad.mit.edu	37	7	81635118	81635118	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:81635118G>C	uc003uhr.1	-	16	1734	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	493	Cache.					voltage-gated calcium channel complex	metal ion binding			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)	ATCTTCCAAAGACACATCTAC	0.328													C	81635118	G	C	81635118	3	2	76	1	0	0	0	0	1	0	0	0	2548	942	33	5	1889	5	CACNA2D1	7	81635118	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	1256864	81635118	77503545	43	4986											
KEL	3792	broad.mit.edu	37	7	142658027	142658027	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:142658027G>A	uc003wcb.3	-	3	598	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	130					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)					AGTATTCTCCGAAGTCGGTTT	0.502													A	142658027	G	A	142658027	3	1	76	1	0	0	0	0	1	0	0	0	8142	1057	37	2	1874	2	KEL	7	142658027	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	61022909	142658027	16480636	44	4987											
ARHGEF10	9639	broad.mit.edu	37	8	1871955	1871955	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:1871955G>A	uc003wpr.3	+	20	2581	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	ARHGEF10_uc003wpq.1_Silent_p.T825T|ARHGEF10_uc003wps.3_Silent_p.T763T|ARHGEF10_uc003wpv.3_Silent_p.T534T|ARHGEF10_uc010lre.3_Silent_p.T481T	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	826					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)		GGCGACCGACGTTCTTTACAG	0.488													A	1871955	G	A	1871955	2	1	76	1	0	0	0	0	0	0	0	1	894	1132	40	1		1	ARHGEF10	8	1871955	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08		1871955	144492067	45	4988											
WRN	7486	broad.mit.edu	37	8	30977768	30977768	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:30977768G>C	uc003xio.4	+	20	3246	c.2458G>C	c.(2458-2460)Gct>Cct	p.A820P	WRN_uc010lvk.3_Missense_Mutation_p.A287P	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	820	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTGTGTCATAGCTACCATAGC	0.353			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				C	30977768	G	C	30977768	3	2	76	1	0	0	0	0	1	0	0	0	17399	971	34	5	2536	5	WRN	8	30977768	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	29105813	30977768	115386254	46	4989											
SDC2	6383	broad.mit.edu	37	8	97614730	97614730	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:97614730C>G	uc003yhv.1	+	2	898	c.280C>G	c.(280-282)Cag>Gag	p.Q94E	SDC2_uc011lgu.1_Missense_Mutation_p.Q65E	NM_002998	NP_002989	P34741	SDC2_HUMAN	Homo sapiens syndecan 2 (SDC2), mRNA.	94						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GCTGAATATACAGAACAAGAT	0.423													G	97614730	C	G	97614730	3	3	76	1	0	0	0	0	1	0	0	0	13952	479	17	5	290	5	SDC2	8	97614730	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	66636962	97614730	48749292	47	4990											
RGS22	26166	broad.mit.edu	37	8	101059740	101059740	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:101059740G>A	uc003yjb.1	-	10	1969	c.1774C>T	c.(1774-1776)Cgg>Tgg	p.R592W	RGS22_uc003yja.1_Missense_Mutation_p.R411W|RGS22_uc003yjc.1_Missense_Mutation_p.R580W|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.R496W	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	592					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R592W(3)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAAAGCTCCCGCTTCCAAGGC	0.383													A	101059740	G	A	101059740	3	1	76	1	0	0	0	0	1	0	0	0	13305	1086	38	1	2088	1	RGS22	8	101059740	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	3445010	101059740	45304282	48	4991											
FAM83A	84985	broad.mit.edu	37	8	124206323	124206323	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:124206323C>T	uc003ypv.3	+	3	2722	c.708C>T	c.(706-708)ttC>ttT	p.F236F	FAM83A_uc003ypw.3_Silent_p.F236F|FAM83A_uc003ypx.3_Silent_p.F236F|FAM83A_uc003ypy.3_Silent_p.F180F|FAM83A_uc003ypz.3_Silent_p.F236F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	236										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGGAAATTCGCTGGCCAAA	0.473													T	124206323	C	T	124206323	2	4	76	1	0	0	0	0	0	0	0	1	5633	883	31	2		2	FAM83A	8	124206323	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	23146583	124206323	22157699	49	4992											
OR13C8	138802	broad.mit.edu	37	9	107332231	107332231	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr9:107332231G>A	uc011lvo.2	+	0	783	c.783G>A	c.(781-783)aaG>aaA	p.K261K		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGTACGCAAAGCCTGAGTCTA	0.453													A	107332231	G	A	107332231	2	1	76	1	0	0	0	0	0	0	0	1	10938	962	34	3		3	OR13C8	9	107332231	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08		107332231	33881200	50	4993											
CUBN	8029	broad.mit.edu	37	10	17083094	17083094	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:17083094T>C	uc001ioo.3	-	26	4007	c.3955A>G	c.(3955-3957)Aac>Gac	p.N1319D		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1319	CUB 8.				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			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)	AATGTGTAGTTCACAGTGTTG	0.383													C	17083094	T	C	17083094	3	2	76	1	0	0	0	0	1	0	0	0	4051	1783	62	4	7080	4	CUBN	10	17083094	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		17083094	118451653	51	4994											
A1CF	29974	broad.mit.edu	37	10	52587910	52587910	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:52587910T>A	uc001jjj.3	-	6	938	c.750A>T	c.(748-750)gaA>gaT	p.E250D	A1CF_uc010qho.2_Missense_Mutation_p.E258D|A1CF_uc010qhn.2_Missense_Mutation_p.E258D|A1CF_uc009xov.3_Missense_Mutation_p.E250D|A1CF_uc001jji.3_Missense_Mutation_p.E250D|A1CF_uc001jjh.3_Missense_Mutation_p.E258D	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	250	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TATTGTTGAATTCCTTTTCAA	0.353													A	52587910	T	A	52587910	3	1	76	1	0	0	0	0	1	0	0	0	2	1490	52	5	1062	5	A1CF	10	52587910	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	35504816	52587910	82946837	52	4995											
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:89692904C>T	uc001kfb.3	+	4	1420	c.388C>T	c.(388-390)Cga>Tga	p.R130*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692904	C	T	89692904	4	4	76	1	0	0	0	0	0	1	0	0	12738	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	37104994	89692904	45841843	53	4996											
OR51G1	79324	broad.mit.edu	37	11	4945014	4945014	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:4945014T>A	uc010qyr.2	-	0	556	c.556A>T	c.(556-558)Atc>Ttc	p.I186F		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTCATGATCTCCAGGTGA	0.522													A	4945014	T	A	4945014	3	1	76	1	0	0	0	0	1	0	0	0	11098	1435	50	5	411	5	OR51G1	11	4945014	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		4945014	130061502	54	4997											
FADS3	3995	broad.mit.edu	37	11	61646097	61646097	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:61646097C>G	uc001nsm.3	-	4	787	c.634G>C	c.(634-636)Gcc>Ccc	p.A212P		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	212					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACCAGTGGGCGGAGAAGCCC	0.667													G	61646097	C	G	61646097	3	3	76	1	0	0	0	0	1	0	0	0	5367	768	27	5	735	5	FADS3	11	61646097	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	56701083	61646097	73360419	55	4998											
DNAJC4	3338	broad.mit.edu	37	11	64001432	64001432	+	Silent	SNP	C	C	T	rs138996784	by1000genomes	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:64001432C>T	uc001nyt.3	+	4	1020	c.597C>T	c.(595-597)aaC>aaT	p.N199N	AX747192_uc001nyr.1_5'Flank|DNAJC4_uc001nys.3_Silent_p.N198N|DNAJC4_uc001nyu.3_Silent_p.N198N|VEGFB_uc001nyx.3_5'Flank|VEGFB_uc001nyw.3_5'Flank			Q9NNZ3	DNJC4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 4 (DNAJC4), mRNA.	198					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						CCTTCTACAACGAAGCCCGGG	0.547													T	64001432	C	T	64001432	2	4	76	1	0	0	0	0	0	0	0	1	4649	535	19	1		1	DNAJC4	11	64001432	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	2355335	64001432	71005084	56	4999											
FAT3	120114	broad.mit.edu	37	11	92533806	92533806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:92533806C>T	uc001pdj.4	+	8	7644	c.7627C>T	c.(7627-7629)Cga>Tga	p.R2543*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2543	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				TGCCAAGGATCGATTCCTCAT	0.488										TCGA Ovarian(4;0.039)			T	92533806	C	T	92533806	4	4	76	1	0	0	0	0	0	1	0	0	5691	876	31	2	7661	2	FAT3	11	92533806	Nonsense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	28532374	92533806	42472710	57	5000											
CNTN5	53942	broad.mit.edu	37	11	99690432	99690432	+	Silent	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:99690432G>T	uc001pga.3	+	3	717	c.213G>T	c.(211-213)ggG>ggT	p.G71G	CNTN5_uc009ywv.2_Silent_p.G71G|CNTN5_uc001pfz.3_Silent_p.G71G|CNTN5_uc021qpb.1_Silent_p.G71G|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	71					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTGGCTAGGGGCAGCTCAGA	0.433													T	99690432	G	T	99690432	2	4	76	1	0	0	0	0	0	0	0	1	3644	1219	43	5		5	CNTN5	11	99690432	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	7156626	99690432	35316084	58	5001											
CLDN25	644672	broad.mit.edu	37	11	113650596	113650596	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:113650596A>G	uc009yyw.1	+	0	79	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	27						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTCCTGTGTTACCACCATCCT	0.557													G	113650596	A	G	113650596	3	3	76	1	0	0	0	0	1	0	0	0	3485	391	14	4	81	4	CLDN25	11	113650596	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	13960164	113650596	21355920	59	5002											
ACSM4	341392	broad.mit.edu	37	12	7476137	7476137	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:7476137G>C	uc001qsx.1	+	8	1289	c.1289G>C	c.(1288-1290)tGt>tCt	p.C430S		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	430					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CGGCCCTTCTGTTTCTTCTCT	0.398													C	7476137	G	C	7476137	3	2	76	1	0	0	0	0	1	0	0	0	186	1377	48	5	1323	5	ACSM4	12	7476137	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		7476137	126375758	60	5003											
CD163	9332	broad.mit.edu	37	12	7636017	7636017	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:7636017G>A	uc001qsz.3	-	11	3162	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	CD163_uc001qta.3_Missense_Mutation_p.R1012C|CD163_uc009zfw.2_Missense_Mutation_p.R1045C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1012	SRCR 9.				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						TGGCCCCAGCGTCTGGCAGGA	0.512													A	7636017	G	A	7636017	3	1	76	1	0	0	0	0	1	0	0	0	2967	1145	40	1	456	1	CD163	12	7636017	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	159880	7636017	126215878	61	5004											
KIAA1467	57613	broad.mit.edu	37	12	13208635	13208635	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:13208635A>G	uc001rbi.3	+	1	211	c.188A>G	c.(187-189)gAt>gGt	p.D63G		NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	63						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCCGACTCAGATGCTGAGGTT	0.562													G	13208635	A	G	13208635	3	3	76	1	0	0	0	0	1	0	0	0	8235	333	12	4	194	4	KIAA1467	12	13208635	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	5572618	13208635	120643260	62	5005											
PTPRB	5787	broad.mit.edu	37	12	70949924	70949924	+	Silent	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:70949924A>G	uc001swb.4	-	16	4095	c.4065T>C	c.(4063-4065)ccT>ccC	p.P1355P	PTPRB_uc010sto.2_Silent_p.P1265P|PTPRB_uc010stp.2_Silent_p.P1265P|PTPRB_uc001swc.4_Silent_p.P1573P|PTPRB_uc001swa.4_Silent_p.P1485P	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1355	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTATCTTGTCAGGCTCTAAAG	0.438													G	70949924	A	G	70949924	2	3	76	1	0	0	0	0	0	0	0	1	12796	175	7	4		4	PTPRB	12	70949924	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	57741289	70949924	62901971	63	5006											
FSCB	84075	broad.mit.edu	37	14	44974610	44974610	+	Silent	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:44974610A>T	uc001wvn.3	-	0	1890	c.1581T>A	c.(1579-1581)ctT>ctA	p.L527L		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	527	Ala-rich.					cilium				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)		TAGCTGCTAGAAGCTGAATTT	0.493													T	44974610	A	T	44974610	2	4	76	1	0	0	0	0	0	0	0	1	6066	233	9	5		5	FSCB	14	44974610	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08		44974610	62374930	64	5007											
SYT16	83851	broad.mit.edu	37	14	62536340	62536340	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:62536340C>T	uc001xfu.1	+	1	740	c.543C>T	c.(541-543)gaC>gaT	p.D181D	SYT16_uc010tsd.1_Silent_p.D181D	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	181										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTGGGGATGACGAAGAGCTGT	0.483													T	62536340	C	T	62536340	2	4	76	1	0	0	0	0	0	0	0	1	15469	535	19	1		1	SYT16	14	62536340	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	17561730	62536340	44813200	65	5008											
SERPINA5	5104	broad.mit.edu	37	14	95054156	95054156	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:95054156T>C	uc001ydm.2	+	2	667	c.457T>C	c.(457-459)Tac>Cac	p.Y153H	SERPINA5_uc010ave.2_Missense_Mutation_p.Y153H|SERPINA5_uc001ydn.1_Missense_Mutation_p.Y153H	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	153					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GAAGACGCTGTACCTGGCAGA	0.537													C	95054156	T	C	95054156	3	2	76	1	0	0	0	0	1	0	0	0	14092	1638	57	4	459	4	SERPINA5	14	95054156	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	32517816	95054156	12295384	66	5009											
WDR72	256764	broad.mit.edu	37	15	53994476	53994476	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:53994476G>A	uc002acj.2	-	11	1466	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	WDR72_uc010bfi.1_Missense_Mutation_p.S475L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	475										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTCTAATTTCGAAGAGAGACC	0.383													A	53994476	G	A	53994476	3	1	76	1	0	0	0	0	1	0	0	0	17319	1059	37	2	1920	2	WDR72	15	53994476	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		53994476	48536916	67	5010											
HERC1	8925	broad.mit.edu	37	15	63948072	63948072	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:63948072C>T	uc002amp.3	-	49	10101	c.9953G>A	c.(9952-9954)cGa>cAa	p.R3318Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3318					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			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						AGCAATTCCTCGGAGAAAGCT	0.448													T	63948072	C	T	63948072	3	4	76	1	0	0	0	0	1	0	0	0	7057	884	31	2	4748	2	HERC1	15	63948072	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	9953596	63948072	38583320	68	5011											
ACSM2B	348158	broad.mit.edu	37	16	20548638	20548638	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr16:20548638T>C	uc002dhj.4	-	14	1886	c.1676A>G	c.(1675-1677)cAa>cGa	p.Q559R	ACSM2B_uc002dhk.4_Missense_Mutation_p.Q559R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	559					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTGGTTCGTTGAATTTTCCC	0.483													C	20548638	T	C	20548638	3	2	76	1	0	0	0	0	1	0	0	0	184	1812	63	4	61	4	ACSM2B	16	20548638	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		20548638	69806115	69	5012											
IL21R	50615	broad.mit.edu	37	16	27441407	27441407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr16:27441407G>A	uc002dor.2	+	2	629	c.81G>A	c.(79-81)tgG>tgA	p.W27*	IL21R_uc002doq.2_Nonsense_Mutation_p.W5*|IL21R_uc002dos.2_Nonsense_Mutation_p.W5*	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	5					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CGCGTGGCTGGGCCGCCCCCT	0.716			T	BCL6	NHL								A	27441407	G	A	27441407	4	1	76	1	0	0	0	0	0	1	0	0	7671	1241	43	3	17	3	IL21R	16	27441407	Nonsense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	6892769	27441407	62913346	70	5013											
RILP	83547	broad.mit.edu	37	17	1551765	1551765	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:1551765G>T	uc002ftd.3	-	4	994	c.700C>A	c.(700-702)Cgc>Agc	p.R234S	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.	234					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCGAGGGGCGCCCGAGCTGC	0.637													T	1551765	G	T	1551765	3	4	76	1	0	0	0	0	1	0	0	0	13360	1087	38	5	521	5	RILP	17	1551765	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		1551765	79643445	71	5014											
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:7577097C>G	uc002gim.2	-	7	1035	c.841G>C	c.(841-843)Gac>Cac	p.D281H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149H|TP53_uc010cnf.1_Missense_Mutation_p.D149H|TP53_uc002gii.1_Missense_Mutation_p.D149H|TP53_uc010cni.1_Missense_Mutation_p.D281H|TP53_uc010cnh.1_Missense_Mutation_p.D281H|TP53_uc002gij.2_Missense_Mutation_p.D281H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281G(10)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.R280_D281delRD(4)|p.D281V(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.D281fs*63(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(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)		GTGCGCCGGTCTCTCCCAGGA	0.547		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)			G	7577097	C	G	7577097	3	3	76	1	0	0	0	0	1	0	0	0	16378	913	32	5	445	5	TP53	17	7577097	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	6025332	7577097	73618113	72	5015											
KDM6B	23135	broad.mit.edu	37	17	7752755	7752755	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:7752755C>T	uc002gix.3	+	0	1892	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	KDM6B_uc002giw.1_Missense_Mutation_p.P1050L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1050	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCACAGCTCCAGCCCCTCCA	0.677													T	7752755	C	T	7752755	3	4	76	1	0	0	0	0	1	0	0	0	8138	594	21	3	3179	3	KDM6B	17	7752755	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	175658	7752755	73442455	73	5016											
GRB7	2886	broad.mit.edu	37	17	37902194	37902194	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:37902194C>A	uc002hsr.3	+	12	1574	c.1299C>A	c.(1297-1299)caC>caA	p.H433Q	GRB7_uc002hss.3_Missense_Mutation_p.H433Q|GRB7_uc021twu.1_Missense_Mutation_p.H456Q|GRB7_uc010cwc.3_Missense_Mutation_p.H433Q|GRB7_uc002hst.3_Intron	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	433	SH2.				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			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)			TCTGGTTCCACGGGCGCATTT	0.617													A	37902194	C	A	37902194	3	1	76	1	0	0	0	0	1	0	0	0	6759	535	19	5	1345	5	GRB7	17	37902194	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	30149439	37902194	43293016	74	5017											
GSDMA	284110	broad.mit.edu	37	17	38133285	38133285	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:38133285C>T	uc002htl.1	+	11	1430	c.1312C>T	c.(1312-1314)Ctt>Ttt	p.L438F	GSDMA_uc002htm.1_Missense_Mutation_p.L438F	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	438					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCTCTCTCTCCTTCAGCAGCT	0.557													T	38133285	C	T	38133285	3	4	76	1	0	0	0	0	1	0	0	0	6816	681	24	3	1354	3	GSDMA	17	38133285	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	231091	38133285	43061925	75	5018											
KRTAP4-9	100132386	broad.mit.edu	37	17	39262218	39262218	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:39262218C>A	uc010wfp.2	+	0	578	c.578C>A	c.(577-579)aCc>aAc	p.T193N		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	193						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TATCGCCCAACCTGTGTCATC	0.647													A	39262218	C	A	39262218	3	1	76	1	0	0	0	0	1	0	0	0	8557	507	18	5	580	5	KRTAP4-9	17	39262218	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	1128933	39262218	41932992	76	5019											
MPO	4353	broad.mit.edu	37	17	56355275	56355275	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:56355275C>T	uc002ivu.1	-	6	1294	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	373					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGGGCCCGGCCGTTGTCTTGG	0.652													T	56355275	C	T	56355275	3	4	76	1	0	0	0	0	1	0	0	0	9732	652	23	2	1144	2	MPO	17	56355275	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	17093057	56355275	24839935	77	5020											
DNAH17	8632	broad.mit.edu	37	17	76420030	76420030	+	Missense_Mutation	SNP	G	G	A	rs143246806	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:76420030G>A	uc010dhp.2	-	80	13471	c.13346C>T	c.(13345-13347)gCg>gTg	p.A4449V	PGS1_uc002jvm.3_Intron|PGS1_uc010wtt.2_Intron|PGS1_uc010dho.3_Intron|PGS1_uc002jvn.3_Intron|PGS1_uc002jvo.3_Intron|DNAH17_uc002jvq.3_Missense_Mutation_p.A734V|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCCACTTCGCTGCCTTCTC	0.567													A	76420030	G	A	76420030	3	1	76	1	0	0	0	0	1	0	0	0	4601	1087	38	1	46	1	DNAH17	17	76420030	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	20064755	76420030	4775180	78	5021											
TCF4	6925	broad.mit.edu	37	18	52921829	52921829	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr18:52921829C>T	uc002lga.3	-	15	1615	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	TCF4_uc021ukg.1_Missense_Mutation_p.D257N|TCF4_uc021ukh.1_Missense_Mutation_p.D257N|TCF4_uc002lfw.4_Missense_Mutation_p.D257N|TCF4_uc010xdu.1_Missense_Mutation_p.D287N|TCF4_uc010xdv.1_Missense_Mutation_p.D287N|TCF4_uc021uki.1_Missense_Mutation_p.D346N|TCF4_uc002lfx.2_Missense_Mutation_p.D346N|TCF4_uc010xdw.1_Missense_Mutation_p.D287N|TCF4_uc002lfy.2_Missense_Mutation_p.D375N|TCF4_uc010xdx.1_Missense_Mutation_p.D393N|TCF4_uc021ukj.1_Missense_Mutation_p.D357N|TCF4_uc021ukk.1_Missense_Mutation_p.D357N|TCF4_uc021ukl.1_Missense_Mutation_p.D414N|TCF4_uc002lfz.2_Missense_Mutation_p.D417N|TCF4_uc010dph.1_Missense_Mutation_p.D417N|TCF4_uc010dpi.3_Missense_Mutation_p.D423N|TCF4_uc010xdy.1_Missense_Mutation_p.D393N	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	417					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|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|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCATGCATGTCCCCATGACCA	0.502													T	52921829	C	T	52921829	3	4	76	1	0	0	0	0	1	0	0	0	15692	855	30	3	786	3	TCF4	18	52921829	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08		52921829	25155419	79	5022											
SOCS6	9306	broad.mit.edu	37	18	67992070	67992070	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr18:67992070A>G	uc002lkr.1	+	1	482	c.166A>G	c.(166-168)Atc>Gtc	p.I56V	SOCS6_uc010dqq.2_Missense_Mutation_p.I56V|SOCS6_uc021ulj.1_Missense_Mutation_p.I56V	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	56					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CAGCTGCGATATCAACGGTGA	0.428													G	67992070	A	G	67992070	3	3	76	1	0	0	0	0	1	0	0	0	14918	449	16	4	168	4	SOCS6	18	67992070	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	15070241	67992070	10085178	80	5023											
HMHA1	23526	broad.mit.edu	37	19	1083208	1083208	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:1083208G>A	uc002lqz.1	+	20	3042	c.2811G>A	c.(2809-2811)acG>acA	p.T937T	HMHA1_uc010xgd.1_Silent_p.T953T|HMHA1_uc010xge.1_Silent_p.T805T|HMHA1_uc002lra.1_Silent_p.T777T|HMHA1_uc002lrb.1_Silent_p.T820T|HMHA1_uc002lrc.1_Silent_p.T572T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	937	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		TCGGGCCCACGCTGCTTCGGC	0.672													A	1083208	G	A	1083208	2	1	76	1	0	0	0	0	0	0	0	1	7240	1074	38	1		1	HMHA1	19	1083208	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08		1083208	58045775	81	5024											
FARSA	2193	broad.mit.edu	37	19	13035595	13035595	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:13035595G>A	uc002mvs.2	-	9	1101	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	FARSA_uc010xmv.1_Silent_p.F320F	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	351					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GGTCGATGGAGAAGTACTTGA	0.612													A	13035595	G	A	13035595	2	1	76	1	0	0	0	0	0	0	0	1	5679	933	33	3		3	FARSA	19	13035595	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	11952387	13035595	46093388	82	5025											
PCSK2	5126	broad.mit.edu	37	20	17434509	17434509	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:17434509C>T	uc002wpm.3	+	8	1362	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	PCSK2_uc002wpl.3_Silent_p.N317N|PCSK2_uc010zrm.2_Silent_p.N301N	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	336	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCCATCAACGACGGCAGGA	0.617													T	17434509	C	T	17434509	2	4	76	1	0	0	0	0	0	0	0	1	11601	535	19	1		1	PCSK2	20	17434509	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08		17434509	45591011	83	5026											
PRIC285	85441	broad.mit.edu	37	20	62198633	62198633	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:62198633G>A	uc002yfm.2	-	6	2970	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	PRIC285_uc002yfl.1_Missense_Mutation_p.A124V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	693					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	p.L692L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GTGGTCGCCCGCCAGCACGAG	0.682													A	62198633	G	A	62198633	3	1	76	1	0	0	0	0	1	0	0	0	12485	1087	38	1	5927	1	PRIC285	20	62198633	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	44764124	62198633	826887	84	5027											
SAMSN1	64092	broad.mit.edu	37	21	15858270	15858270	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr21:15858270A>T	uc002yju.1	-	7	1167	c.1085T>A	c.(1084-1086)aTg>aAg	p.M362K	SAMSN1_uc010gky.1_Missense_Mutation_p.M194K|SAMSN1_uc002yjv.1_Missense_Mutation_p.M430K	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	362					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTTATGTACCATGTCAGACAG	0.398													T	15858270	A	T	15858270	3	4	76	1	0	0	0	0	1	0	0	0	13830	217	8	5	40	5	SAMSN1	21	15858270	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08		15858270	32271625	85	5028											
PIR	8544	broad.mit.edu	37	X	15509315	15509315	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:15509315C>T	uc004cwu.3	-	1	551	c.66G>A	c.(64-66)gcG>gcA	p.A22A	FIGF_uc022bth.1_Non-coding_Transcript|PIR_uc004cwv.3_Silent_p.A22A|BMX_uc004cww.3_Intron	NM_003662	NP_003653	O00625	PIR_HUMAN	Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA.	22					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TCCGGACCCTCGCTCCAACCC	0.522													T	15509315	C	T	15509315	2	4	76	1	0	0	0	0	0	0	0	1	11944	871	31	2		2	PIR	23	15509315	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08		15509315	139761245	86	5029											
KLHL34	257240	broad.mit.edu	37	X	21675201	21675201	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:21675201C>T	uc004czz.1	-	0	1248	c.706G>A	c.(706-708)Gtg>Atg	p.V236M		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	236	BACK.							p.V236M(2)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCGAGTACACGCGCCGCAGT	0.667													T	21675201	C	T	21675201	3	4	76	1	0	0	0	0	1	0	0	0	8387	536	19	1	1232	1	KLHL34	23	21675201	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	6165886	21675201	133595359	87	5030											
FAM47B	170062	broad.mit.edu	37	X	34962438	34962438	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:34962438A>T	uc004ddi.2	+	0	1526	c.1490A>T	c.(1489-1491)aAg>aTg	p.K497M		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	497										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CAAGACCAAAAGATTAAGAAG	0.468													T	34962438	A	T	34962438	3	4	76	1	0	0	0	0	1	0	0	0	5570	72	3	5	1492	5	FAM47B	23	34962438	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	13287237	34962438	120308122	88	5031											
CXorf27	25763	broad.mit.edu	37	X	37850145	37850145	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:37850145A>T	uc004ddt.4	+	0	76	c.53A>T	c.(52-54)cAa>cTa	p.Q18L		NM_012274	NP_036406	O75409	HYPM_HUMAN	Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA.	18							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AACCAGACTCAAGACCCTTCT	0.458													T	37850145	A	T	37850145	3	4	76	1	0	0	0	0	1	0	0	0	4105	130	5	5	55	5	CXorf27	23	37850145	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	2887707	37850145	117420415	89	5032											
BCOR	54880	broad.mit.edu	37	X	39921626	39921626	+	Silent	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:39921626T>C	uc004den.4	-	9	4486	c.4194A>G	c.(4192-4194)agA>agG	p.R1398R	BCOR_uc004dep.4_Silent_p.R1364R|BCOR_uc004deo.4_Silent_p.R1346R|BCOR_uc010nhb.3_Silent_p.R106R|BCOR_uc004dem.4_Silent_p.R1364R	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1398					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCGGCCGCTTTCTGAATCTCC	0.587			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						C	39921626	T	C	39921626	2	2	76	1	0	0	0	0	0	0	0	1	1386	1780	62	4		4	BCOR	23	39921626	Silent	SNP	T	TCGA-06-2558-01A-01D-1494-08	2071481	39921626	115348934	90	5033											
DGKK	139189	broad.mit.edu	37	X	50134485	50134485	+	Silent	SNP	A	A	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:50134485A>C	uc010njr.2	-	10	1838	c.1794T>G	c.(1792-1794)ccT>ccG	p.P598P		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	598	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGATGTCCAGAGGTGACTTGC	0.537													C	50134485	A	C	50134485	2	2	76	1	0	0	0	0	0	0	0	1	4472	291	11	5		5	DGKK	23	50134485	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	10212859	50134485	105136075	91	5034											
NAP1L2	4674	broad.mit.edu	37	X	72433530	72433530	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:72433530T>A	uc004ebi.3	-	0	1181	c.799A>T	c.(799-801)Aag>Tag	p.K267*		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	267					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTCAGGAGCTTCAGAATAGGC	0.368													A	72433530	T	A	72433530	4	1	76	1	0	0	0	0	0	1	0	0	10157	1792	62	5	587	5	NAP1L2	23	72433530	Nonsense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	22299045	72433530	82837030	92	5035											
PCDH11X	27328	broad.mit.edu	37	X	91132696	91132696	+	Missense_Mutation	SNP	C	C	T	rs62621113		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:91132696C>T	uc004efk.2	+	1	2302	c.1457C>T	c.(1456-1458)aCg>aTg	p.T486M	PCDH11X_uc004efl.2_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.2_Missense_Mutation_p.T486M|PCDH11X_uc004efm.2_Missense_Mutation_p.T486M|PCDH11X_uc004efn.2_Missense_Mutation_p.T486M|PCDH11X_uc004efo.2_Missense_Mutation_p.T486M|PCDH11X_uc004efh.2_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	486	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						ATCCAGTTGACGAAAGTAAGT	0.438													T	91132696	C	T	91132696	3	4	76	1	0	0	0	0	1	0	0	0	11508	536	19	1	1463	1	PCDH11X	23	91132696	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	18699166	91132696	64137864	93	5036											
FAM70A	55026	broad.mit.edu	37	X	119410875	119410875	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:119410875G>A	uc004eso.4	-	7	839	c.612C>T	c.(610-612)taC>taT	p.Y204Y	FAM70A_uc004esp.4_Silent_p.Y180Y|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	204						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CGATGTATTCGTAGTACCCAC	0.582													A	119410875	G	A	119410875	2	1	76	1	0	0	0	0	0	0	0	1	5605	1140	40	1		1	FAM70A	23	119410875	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	28278179	119410875	35859685	94	5037											
MTHFR	4524	broad.mit.edu	37	1	11861244	11861244	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:11861244A>G	uc001atb.1	-	1	716	c.518T>C	c.(517-519)cTg>cCg	p.L173P	MTHFR_uc001atc.2_Missense_Mutation_p.L150P	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	150					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GATGTTCTTCAGGCCCAGCTG	0.602													G	11861244	A	G	11861244	3	3	77	1	0	0	0	0	1	0	0	0	9931	188	7	4	1561	4	MTHFR	1	11861244	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08		11861244	237389377	1	5038											
IFI6	2537	broad.mit.edu	37	1	27992966	27992966	+	Missense_Mutation	SNP	C	C	T	rs74937564		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:27992966C>T	uc001bon.1	-	4	466	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	IFI6_uc001boo.1_Missense_Mutation_p.V107I|IFI6_uc001bop.1_Missense_Mutation_p.V111I	NM_022873	NP_075011	P09912	IFI6_HUMAN	Homo sapiens interferon, alpha-inducible protein 6 (IFI6), transcript variant 3, mRNA.	107					anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding			lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTATGACGACGCTGCTG	0.542													T	27992966	C	T	27992966	3	4	77	1	0	0	0	0	1	0	0	0	7519	536	19	1	77	1	IFI6	1	27992966	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	16131722	27992966	221257655	2	5039											
LRRC40	55631	broad.mit.edu	37	1	70641517	70641517	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:70641517T>G	uc001der.2	-	6	1091	c.953A>C	c.(952-954)gAc>gCc	p.D318A		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	318										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTTGCTTAGGTCAAGCCTTTC	0.289													G	70641517	T	G	70641517	3	3	77	1	0	0	0	0	1	0	0	0	8998	1667	58	5	891	5	LRRC40	1	70641517	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	42648551	70641517	178609104	3	5040											
NEXN	91624	broad.mit.edu	37	1	78392171	78392171	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:78392171A>T	uc001dic.4	+	6	859	c.562A>T	c.(562-564)Aat>Tat	p.N188Y	NEXN_uc001dia.3_Missense_Mutation_p.N174Y|NEXN_uc009wcb.1_Missense_Mutation_p.N110Y|NEXN_uc001dib.4_Missense_Mutation_p.N124Y|NEXN_uc001did.1_Missense_Mutation_p.N98Y|NEXN_uc001dif.1_Missense_Mutation_p.N80Y	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	188	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATGAAAAAGAATTTTGAGGA	0.313													T	78392171	A	T	78392171	3	4	77	1	0	0	0	0	1	0	0	0	10355	246	9	5	584	5	NEXN	1	78392171	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	7750654	78392171	170858450	4	5041											
WDR63	126820	broad.mit.edu	37	1	85560129	85560129	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:85560129C>T	uc001dkt.3	+	9	1255	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	WDR63_uc009wcl.3_Missense_Mutation_p.S316L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	355										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATAGCTGTGTCGGTAGCCGTG	0.418													T	85560129	C	T	85560129	3	4	77	1	0	0	0	0	1	0	0	0	17311	893	31	2	1098	2	WDR63	1	85560129	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	7167958	85560129	163690492	5	5042											
HRNR	388697	broad.mit.edu	37	1	152192836	152192836	+	Silent	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:152192836A>G	uc001ezt.1	-	2	1345	c.1269T>C	c.(1267-1269)tcT>tcC	p.S423S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	423					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGGCCTGGAGACTGGCCAG	0.617													G	152192836	A	G	152192836	2	3	77	1	0	0	0	0	0	0	0	1	7359	291	11	4		4	HRNR	1	152192836	Silent	SNP	A	TCGA-06-2559-01A-01D-1494-08	66632707	152192836	97057785	6	5043											
SPTA1	6708	broad.mit.edu	37	1	158654966	158654966	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:158654966C>T	uc001fst.1	-	1	395	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	66					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L65M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCACTtccccagatcatct	0.453													T	158654966	C	T	158654966	3	4	77	1	0	0	0	0	1	0	0	0	15115	623	22	3	7267	3	SPTA1	1	158654966	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	6462130	158654966	90595655	7	5044											
LTBP1	4052	broad.mit.edu	37	2	33335817	33335817	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:33335817G>A	uc021vft.1	+	4	1056	c.1033_splice	c.e4+1	p.L345_splice		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	345					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACCTTTTCAGCGTGAGTATA	0.423													A	33335817	G	A	33335817	2	1	77	1	0	0	0	0	0	0	0	1	9073	985	34	3		3	LTBP1	2	33335817	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		33335817	209863556	8	5045											
KRCC1	51315	broad.mit.edu	37	2	88327482	88327482	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:88327482C>T	uc002sso.1	-	3	995	c.601G>A	c.(601-603)Gag>Aag	p.E201K	KRCC1_uc002ssp.1_Missense_Mutation_p.E201K|KRCC1_uc021vko.1_Missense_Mutation_p.E201K	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN	Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA.	201	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						ATTTCCACCTCTGTTTTCTTT	0.398													T	88327482	C	T	88327482	3	4	77	1	0	0	0	0	1	0	0	0	8441	922	32	3	182	3	KRCC1	2	88327482	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	54991665	88327482	154871891	9	5046											
IL18RAP	8807	broad.mit.edu	37	2	103057838	103057838	+	Splice_Site	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:103057838G>T	uc002tbx.3	+	7	1280	c.796_splice	c.e7+1	p.G266_splice	IL18RAP_uc010fiz.3_Splice_Site_p.G124_splice	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	266	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTAGAACTTGGTAAGCTGGGC	0.433													T	103057838	G	T	103057838	5	4	77	1	0	0	0	0	0	0	1	0	7648	1275	44	5	815	5	IL18RAP	2	103057838	Splice_Site	SNP	G	TCGA-06-2559-01A-01D-1494-08	14730356	103057838	140141535	10	5047											
LRP2	4036	broad.mit.edu	37	2	170009381	170009381	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170009381A>G	uc002ues.3	-	66	12602	c.12389T>C	c.(12388-12390)cTt>cCt	p.L4130P		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4130					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.N4129N(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCCTGCACAAGATTATTGCG	0.478													G	170009381	A	G	170009381	3	3	77	1	0	0	0	0	1	0	0	0	8956	72	3	4	1630	4	LRP2	2	170009381	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	66951543	170009381	73189992	11	5048											
LRP2	4036	broad.mit.edu	37	2	170101420	170101420	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170101420C>T	uc002ues.3	-	21	3426	c.3213G>A	c.(3211-3213)gcG>gcA	p.A1071A	LRP2_uc010zdf.1_Silent_p.A934A	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1071	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.S1070L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAGGTGAACGCCGAAGATG	0.473													T	170101420	C	T	170101420	2	4	77	1	0	0	0	0	0	0	0	1	8956	523	19	1		1	LRP2	2	170101420	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	92039	170101420	73097953	12	5049											
UBR3	130507	broad.mit.edu	37	2	170929938	170929940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170929938_170929940delGAA	uc010zdi.2	+	35	5020_5022	c.5020_5022delGAA	c.(5020-5022)gaadel	p.E1677del	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_In_Frame_Del_p.E498del|UBR3_uc002uft.4_In_Frame_Del_p.E534del|UBR3_uc010zdj.2_In_Frame_Del_p.E368del|UBR3_uc002ufu.4_In_Frame_Del_p.E183del	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1677					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379													-	170929940	GAA	-	170929938	7	5	77	1	0	1	0	1	0	0	0	0	16900	1188	41	0	5162	0	UBR3	2	170929938	In_Frame_Del	DEL	GAA	TCGA-06-2559-01A-01D-1494-08	828518	170929938	72269435	13	5050											
AOX1	316	broad.mit.edu	37	2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:201478598C>T	uc002uvx.3	+	14	1621	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	507					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.A507V(2)|p.A507A(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)	TTGGGCTCGGCGCCAGGTGGG	0.473													T	201478598	C	T	201478598	3	4	77	1	0	0	0	0	1	0	0	0	729	768	27	1	1578	1	AOX1	2	201478598	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	30548660	201478598	41720775	14	5051											
TMPPE	643853	broad.mit.edu	37	3	33134390	33134390	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:33134390C>A	uc003cfk.2	-	1	1510	c.1298G>T	c.(1297-1299)gGg>gTg	p.G433V	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.G296V|TMPPE_uc021wux.1_Missense_Mutation_p.G433V	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	433						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CATGGGTATCCCGTAGTAGGC	0.592													A	33134390	C	A	33134390	3	1	77	1	0	0	0	0	1	0	0	0	16235	623	22	5	67	5	TMPPE	3	33134390	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		33134390	164888040	15	5052											
TMF1	7110	broad.mit.edu	37	3	69075241	69075241	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:69075241T>C	uc011bfx.2	-	13	3021	c.2774A>G	c.(2773-2775)aAg>aGg	p.K925R	TMF1_uc003dnn.3_Missense_Mutation_p.K922R	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	922					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.S925Y(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGAAAATGGCTTGCGTTCCTT	0.393													C	69075241	T	C	69075241	3	2	77	1	0	0	0	0	1	0	0	0	16225	1609	56	4	532	4	TMF1	3	69075241	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	35940851	69075241	128947189	16	5053											
CPN2	1370	broad.mit.edu	37	3	194062679	194062679	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:194062679G>A	uc003fts.3	-	1	843	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CPN2_uc021xix.1_Silent_p.N251N	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	251					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCGTGATGGCGTTGCGTTGCA	0.602													A	194062679	G	A	194062679	2	1	77	1	0	0	0	0	0	0	0	1	3810	1136	40	1		1	CPN2	3	194062679	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	124987438	194062679	3959751	17	5054											
RGS12	6002	broad.mit.edu	37	4	3432638	3432638	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:3432638C>T	uc003ggw.3	+	16	4974	c.4070C>T	c.(4069-4071)cCg>cTg	p.P1357L	RGS12_uc003ggv.3_Missense_Mutation_p.P1357L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.P709L|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.P699L|RGS12_uc010icv.3_Missense_Mutation_p.P556L	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1357						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.P1357L(2)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCTTGCTGCCGCCGCCCTCC	0.667													T	3432638	C	T	3432638	3	4	77	1	0	0	0	0	1	0	0	0	13295	652	23	2	4190	2	RGS12	4	3432638	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		3432638	187721638	18	5055											
GABRB1	2560	broad.mit.edu	37	4	47405592	47405592	+	Silent	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:47405592G>T	uc003gxh.3	+	6	1073	c.699G>T	c.(697-699)ctG>ctT	p.L233L	GABRB1_uc011bze.2_Silent_p.L163L	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	233					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			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)	ATCCACGACTGTCACTAAGTT	0.398													T	47405592	G	T	47405592	2	4	77	1	0	0	0	0	0	0	0	1	6166	1364	48	5		5	GABRB1	4	47405592	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	43972954	47405592	143748684	19	5056											
PDGFRA	5156	broad.mit.edu	37	4	55133901	55133901	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:55133901G>A	uc003han.4	+	6	1445	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E266K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	372	Ig-like C2-type 4.				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			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)	AAAGATTCAGGAAATAAGGTA	0.463			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55133901	G	A	55133901	3	1	77	1	0	0	0	0	1	0	0	0	11661	1175	41	3	1136	3	PDGFRA	4	55133901	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	7728309	55133901	136020375	20	5057											
PDGFRA	5156	broad.mit.edu	37	4	55144136	55144136	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:55144136G>C	uc003han.4	+	13	2296	c.1965G>C	c.(1963-1965)ttG>ttC	p.L655F	PDGFRA_uc003haa.3_Missense_Mutation_p.L415F|PDGFRA_uc010igq.1_Missense_Mutation_p.L549F|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.L34F	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	655	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			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)	GGCCACATTTGAACATTGTAA	0.458			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55144136	G	C	55144136	3	2	77	1	0	0	0	0	1	0	0	0	11661	1281	45	5	2015	5	PDGFRA	4	55144136	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	10235	55144136	136010140	21	5058											
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:56304530_56304532delCTG	uc003haz.1	-	22	3204_3206	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													-	56304532	CTG	-	56304530	7	5	77	1	0	1	0	1	0	0	0	0	3549	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-06-2559-01A-01D-1494-08	1160394	56304530	134849746	22	5059											
GRID2	2895	broad.mit.edu	37	4	94411879	94411879	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:94411879G>A	uc011cdt.2	+	11	2206	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	GRID2_uc011cdu.2_Missense_Mutation_p.A555T	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	650					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			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)	ATCTTACACGGCAAACCTCGC	0.438													A	94411879	G	A	94411879	3	1	77	1	0	0	0	0	1	0	0	0	6772	1203	42	3	1994	3	GRID2	4	94411879	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	38107349	94411879	96742397	23	5060											
NEUROG2	63973	broad.mit.edu	37	4	113436257	113436257	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:113436257C>T	uc003ias.3	-	1	702	c.375G>A	c.(373-375)atG>atA	p.M125I	NEUROG2_uc021xqu.1_Missense_Mutation_p.M125I	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	Homo sapiens neurogenin 2 (NEUROG2), mRNA.	125	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGAGGTTGTGCATGCGGTTTC	0.672													T	113436257	C	T	113436257	3	4	77	1	0	0	0	0	1	0	0	0	10353	710	25	3	447	3	NEUROG2	4	113436257	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	19024378	113436257	77718019	24	5061											
PRDM9	56979	broad.mit.edu	37	5	23526957	23526957	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:23526957G>A	uc003jgo.3	+	10	1942	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	587					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R587R(1)|p.G586G(1)|p.R587W(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						GAGTGTGGGCGGGGCTTTAGC	0.607										HNSCC(3;0.000094)			A	23526957	G	A	23526957	3	1	77	1	0	0	0	0	1	0	0	0	12463	1116	39	2	1798	2	PRDM9	5	23526957	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		23526957	157388303	25	5062											
MAP3K1	4214	broad.mit.edu	37	5	56168506	56168506	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:56168506T>C	uc003jqw.4	+	7	1963	c.1462T>C	c.(1462-1464)Tgt>Cgt	p.C488R		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	488					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.Y488Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCTTTAATATGTCCCCTTTG	0.279													C	56168506	T	C	56168506	3	2	77	1	0	0	0	0	1	0	0	0	9243	1464	51	4	1492	4	MAP3K1	5	56168506	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	32641549	56168506	124746754	26	5063											
GPR98	84059	broad.mit.edu	37	5	89989726	89989726	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:89989726C>T	uc003kju.3	+	32	7249	c.7153C>T	c.(7153-7155)Ctg>Ttg	p.L2385L	GPR98_uc003kjt.3_Silent_p.L91L|GPR98_uc003kjv.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2385					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTGGTCGGCTGTTGTTGTT	0.428													T	89989726	C	T	89989726	2	4	77	1	0	0	0	0	0	0	0	1	6721	796	28	3		3	GPR98	5	89989726	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	33821220	89989726	90925534	27	5064											
FBN2	2201	broad.mit.edu	37	5	127728841	127728841	+	Silent	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:127728841G>T	uc003kuu.3	-	9	1891	c.1452C>A	c.(1450-1452)atC>atA	p.I484I	FBN2_uc003kuv.2_Silent_p.I451I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	484					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCCAGTGATGATAGGTCCCT	0.498													T	127728841	G	T	127728841	2	4	77	1	0	0	0	0	0	0	0	1	5703	1280	45	5		5	FBN2	5	127728841	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	37739115	127728841	53186419	28	5065											
PCDHGC5	8641	broad.mit.edu	37	5	140768969	140768969	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:140768969C>T	uc003lkc.2	+	0	1518	c.1518C>T	c.(1516-1518)agC>agT	p.S506S	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	510	Cadherin 5.				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)			TGTCCATAAGCGCGGAGAGCG	0.662													T	140768969	C	T	140768969	2	4	77	1	0	0	0	0	0	0	0	1	11571	767	27	1		1	PCDHGC5	5	140768969	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	13040128	140768969	40146291	29	5066											
UHRF1BP1	54887	broad.mit.edu	37	6	34827265	34827265	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr6:34827265G>A	uc003oju.4	+	13	3366	c.3132G>A	c.(3130-3132)gtG>gtA	p.V1044V	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1044										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGAAGCTGTGTCCCTGACTA	0.517													A	34827265	G	A	34827265	2	1	77	1	0	0	0	0	0	0	0	1	16965	1364	48	3		3	UHRF1BP1	6	34827265	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		34827265	136287802	30	5067											
ZNF735	730291	broad.mit.edu	37	7	63680474	63680474	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:63680474G>A	uc011kdn.2	+	3	1045	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AATTCATACTGGAGAGAAACC	0.403													A	63680474	G	A	63680474	3	1	77	1	0	0	0	0	1	0	0	0	18121	1349	47	3	1059	3	ZNF735	7	63680474	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		63680474	95458189	31	5068											
TAF6	6878	broad.mit.edu	37	7	99706049	99706049	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:99706049G>A	uc003uth.3	-	11	1707	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Missense_Mutation_p.R389W|TAF6_uc003utm.3_Missense_Mutation_p.R467W|TAF6_uc003uti.3_Missense_Mutation_p.R467W|TAF6_uc003utk.3_Missense_Mutation_p.R467W|TAF6_uc011kji.2_Missense_Mutation_p.R504W	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	467					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTGGGCCCGAGCCTTGACC	0.642													A	99706049	G	A	99706049	3	1	77	1	0	0	0	0	1	0	0	0	15527	1057	37	2	646	2	TAF6	7	99706049	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	36025575	99706049	59432614	32	5069											
GRM8	2918	broad.mit.edu	37	7	126173406	126173406	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:126173406A>G	uc003vlr.2	-	7	2341	c.2030T>C	c.(2029-2031)tTt>tCt	p.F677S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.F677S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	677					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I676M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCCTGCTCAAATATTCGGTG	0.502										HNSCC(24;0.065)			G	126173406	A	G	126173406	3	3	77	1	0	0	0	0	1	0	0	0	6803	14	1	4	758	4	GRM8	7	126173406	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	26467357	126173406	32965257	33	5070											
UBN2	254048	broad.mit.edu	37	7	138969015	138969015	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:138969015C>A	uc011kqr.2	+	14	3364	c.3364C>A	c.(3364-3366)Cag>Aag	p.Q1122K		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1122	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CATCAGCAGACAGTCTCCCAC	0.498													A	138969015	C	A	138969015	3	1	77	1	0	0	0	0	1	0	0	0	16890	479	17	5	3422	5	UBN2	7	138969015	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	12795609	138969015	20169648	34	5071											
ARHGEF10	9639	broad.mit.edu	37	8	1871717	1871717	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:1871717G>A	uc003wpr.3	+	19	2521	c.2343G>A	c.(2341-2343)gcG>gcA	p.A781A	ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.3_Silent_p.A743A|ARHGEF10_uc003wpv.3_Silent_p.A514A|ARHGEF10_uc010lre.3_Silent_p.A461A	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	806					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)		TCAGAGCTGCGGACTGCTGCA	0.418													A	1871717	G	A	1871717	2	1	77	1	0	0	0	0	0	0	0	1	894	1103	39	2		2	ARHGEF10	8	1871717	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		1871717	144492305	35	5072											
CTHRC1	115908	broad.mit.edu	37	8	104390318	104390318	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:104390318C>T	uc003ylk.3	+	2	535	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	146						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TGGCTCACTTCGGCTAAAATG	0.373													T	104390318	C	T	104390318	3	4	77	1	0	0	0	0	1	0	0	0	4010	875	31	2	446	2	CTHRC1	8	104390318	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	102518601	104390318	41973704	36	5073											
TG	7038	broad.mit.edu	37	8	134042090	134042090	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:134042090delG	uc003ytw.3	+	40	7102	c.7061delG	c.(7060-7062)tggfs	p.W2354fs	TG_uc010mdw.3_Frame_Shift_Del_p.W1113fs|TG_uc011ljb.2_Frame_Shift_Del_p.W723fs|TG_uc011ljc.2_Frame_Shift_Del_p.W487fs	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2354					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			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)		AGTGGCAACTGGGGGCTGCTG	0.577													-	134042090	G	-	134042090	7	5	77	1	0	1	0	1	0	0	0	0	15810	1357	47	0	7223	0	TG	8	134042090	Frame_Shift_Del	DEL	G	TCGA-06-2559-01A-01D-1494-08	29651772	134042090	12321932	37	5074											
DOCK8	81704	broad.mit.edu	37	9	439266	439266	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:439266G>C	uc003zgf.2	+	39	5213	c.5101G>C	c.(5101-5103)Gag>Cag	p.E1701Q	DOCK8_uc022bcu.1_Missense_Mutation_p.E1633Q|DOCK8_uc010mgv.3_Missense_Mutation_p.E1601Q|DOCK8_uc010mgu.3_Missense_Mutation_p.E1003Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E1159Q	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1701	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAATGTGCTGGAGGAGTCTGT	0.552													C	439266	G	C	439266	3	2	77	1	0	0	0	0	1	0	0	0	4693	1175	41	5	5259	5	DOCK8	9	439266	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		439266	140774165	38	5075											
TAF1L	138474	broad.mit.edu	37	9	32630579	32630579	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:32630579C>T	uc003zrg.1	-	0	5089	c.4999G>A	c.(4999-5001)Gat>Aat	p.D1667N	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1667					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			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)		TCATACATATCAGGAGGCTGA	0.463													T	32630579	C	T	32630579	3	4	77	1	0	0	0	0	1	0	0	0	15520	826	29	3	485	3	TAF1L	9	32630579	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	32191313	32630579	108582852	39	5076											
ZNF658	26149	broad.mit.edu	37	9	40772401	40772401	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:40772401T>A	uc004abs.2	-	4	3026	c.2874A>T	c.(2872-2874)agA>agT	p.R958S	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.R958S	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	958					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGTGTGAATTCTTTGATGTA	0.438													A	40772401	T	A	40772401	3	1	77	1	0	0	0	0	1	0	0	0	18066	1780	62	5	309	5	ZNF658	9	40772401	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	8141822	40772401	100441030	40	5077											
TNFSF8	944	broad.mit.edu	37	9	117666360	117666360	+	Missense_Mutation	SNP	C	C	T	rs145748228		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:117666360C>T	uc004bji.2	-	3	848	c.556G>A	c.(556-558)Gta>Ata	p.V186I	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	186					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCTGGTATACGTGTTTCGTT	0.418													T	117666360	C	T	117666360	3	4	77	1	0	0	0	0	1	0	0	0	16308	536	19	1	152	1	TNFSF8	9	117666360	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	76893959	117666360	23547071	41	5078											
ANKRD30A	91074	broad.mit.edu	37	10	37506710	37506710	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:37506710G>A	uc021ppc.1	+	32	3102	c.3003G>A	c.(3001-3003)gaG>gaA	p.E1001E	ANKRD30A_uc001iza.1_Silent_p.E1001E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1057						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						GAATCGAAGAGCAGCATAGGA	0.328													A	37506710	G	A	37506710	2	1	77	1	0	0	0	0	0	0	0	1	658	962	34	3		3	ANKRD30A	10	37506710	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		37506710	98028037	42	5079											
ADAMTS14	140766	broad.mit.edu	37	10	72495039	72495039	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:72495039C>T	uc001jrg.3	+	8	1476	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	ADAMTS14_uc001jrh.3_Silent_p.G489G|ADAMTS14_uc001jri.1_Silent_p.G12G	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	489	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTGGCAGTGGCTACCAGACCT	0.592													T	72495039	C	T	72495039	2	4	77	1	0	0	0	0	0	0	0	1	259	784	28	3		3	ADAMTS14	10	72495039	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	34988329	72495039	63039708	43	5080											
PTEN	5728	broad.mit.edu	37	10	89692993	89692993	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:89692993G>T	uc001kfb.3	+	4	1509	c.477G>T	c.(475-477)agG>agT	p.R159S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	159	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R159S(14)|p.?(5)|p.R55fs*1(5)|p.R159K(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGAAGTAAGGACCAGAGACA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692993	G	T	89692993	3	4	77	1	0	0	0	0	1	0	0	0	12738	1165	41	5	495	5	PTEN	10	89692993	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	17197954	89692993	45841754	44	5081											
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:89720852C>T	uc001kfb.3	+	7	2035	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720852	C	T	89720852	4	4	77	1	0	0	0	0	0	1	0	0	12738	644	23	2	1033	2	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	27859	89720852	45813895	45	5082											
COL17A1	1308	broad.mit.edu	37	10	105798253	105798253	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:105798253G>A	uc001kxr.3	-	44	3150	c.2981C>T	c.(2980-2982)cCg>cTg	p.P994L		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	994	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P994L(4)|p.P994P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCCTGGCGGGCCTGACAC	0.597													A	105798253	G	A	105798253	3	1	77	1	0	0	0	0	1	0	0	0	3674	1116	39	2	1560	2	COL17A1	10	105798253	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	16077401	105798253	29736494	46	5083											
NANOS1	340719	broad.mit.edu	37	10	120790044	120790044	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:120790044T>A	uc009xzf.1	+	0	817	c.731T>A	c.(730-732)cTg>cAg	p.L244Q		NM_199461	NP_955631	Q8WY41	NANO1_HUMAN	Homo sapiens nanos homolog 1 (Drosophila) (NANOS1), mRNA.	244					epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TGTCCCGTGCTGCGCCGCTAC	0.687													A	120790044	T	A	120790044	3	1	77	1	0	0	0	0	1	0	0	0	10151	1580	55	5	733	5	NANOS1	10	120790044	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	14991791	120790044	14744703	47	5084											
OR10S1	219873	broad.mit.edu	37	11	123847486	123847486	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr11:123847486G>A	uc001pzm.1	-	0	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCTTGTTCCGCAAAGTGTAA	0.527													A	123847486	G	A	123847486	3	1	77	1	0	0	0	0	1	0	0	0	10918	1086	38	1	86	1	OR10S1	11	123847486	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		123847486	11159030	48	5085											
AGAP2	116986	broad.mit.edu	37	12	58125706	58125706	+	Silent	SNP	C	C	T	rs145122115		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr12:58125706C>T	uc001spq.3	-	7	1839	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	AGAP2_uc001spp.3_Silent_p.P613P|AGAP2_uc001spr.3_Silent_p.P277P	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	613					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.E612Q(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCGGTGAGGACGGGAGGGAAG	0.622													T	58125706	C	T	58125706	2	4	77	1	0	0	0	0	0	0	0	1	368	523	19	1		1	AGAP2	12	58125706	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08		58125706	75726189	49	5086											
GPR133	283383	broad.mit.edu	37	12	131487809	131487809	+	Missense_Mutation	SNP	C	C	T	rs142314859		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr12:131487809C>T	uc010tbm.2	+	10	1761	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M	GPR133_uc001uit.4_Missense_Mutation_p.T369M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	369					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P401P(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CACGGCAGCACGCCCCAGGTC	0.622													T	131487809	C	T	131487809	3	4	77	1	0	0	0	0	1	0	0	0	6643	536	19	1	1144	1	GPR133	12	131487809	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	73362103	131487809	2364086	50	5087											
N6AMT2	221143	broad.mit.edu	37	13	21331636	21331636	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr13:21331636G>A	uc001uno.1	-	1	183	c.102C>T	c.(100-102)ggC>ggT	p.G34G	N6AMT2_uc009zzr.1_Silent_p.G34G|N6AMT2_uc001unp.2_Non-coding_Transcript	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.	34							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TATCATCCTCGCCTGGCTCAA	0.418													A	21331636	G	A	21331636	2	1	77	1	0	0	0	0	0	0	0	1	10115	1074	38	1		1	N6AMT2	13	21331636	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		21331636	93838242	51	5088											
CHD8	57680	broad.mit.edu	37	14	21876530	21876530	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:21876530C>G	uc001war.2	-	11	2736	c.2671G>C	c.(2671-2673)Ggc>Cgc	p.G891R	CHD8_uc001was.2_Missense_Mutation_p.G612R|CHD8_uc001wav.1_Missense_Mutation_p.G54R	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	891	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCCAGACTGCCATGGTACACA	0.438													G	21876530	C	G	21876530	3	3	77	1	0	0	0	0	1	0	0	0	3331	594	21	5	5178	5	CHD8	14	21876530	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		21876530	85473010	52	5089											
DHRS2	10202	broad.mit.edu	37	14	24109023	24109023	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:24109023C>T	uc001wkt.4	+	3	786	c.339C>T	c.(337-339)ggC>ggT	p.G113G	DHRS2_uc010aku.1_Silent_p.G113G|DHRS2_uc001wku.4_Silent_p.G113G|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	91					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACTGTGGGGGCGTCGACTTCC	0.637													T	24109023	C	T	24109023	2	4	77	1	0	0	0	0	0	0	0	1	4490	755	27	1		1	DHRS2	14	24109023	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	2232493	24109023	83240517	53	5090											
LRRC16B	90668	broad.mit.edu	37	14	24524519	24524519	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:24524519G>A	uc001wlj.2	+	8	762	c.605_splice	c.e8+1	p.R202_splice		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	202										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TTGGAGAGCCGGTAAGCAGAT	0.552													A	24524519	G	A	24524519	3	1	77	1	0	0	0	0	1	0	0	0	8972	1130	39	2	635	2	LRRC16B	14	24524519	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	415496	24524519	82825021	54	5091											
C15orf2	23742	broad.mit.edu	37	15	24921169	24921169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr15:24921169G>A	uc001ywo.3	+	0	629	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	52					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGCCTGTTCCGCCGGAACGCC	0.756													A	24921169	G	A	24921169	3	1	77	1	0	0	0	0	1	0	0	0	1784	1087	38	1	157	1	C15orf2	15	24921169	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		24921169	77610223	55	5092											
SOLH	6650	broad.mit.edu	37	16	603459	603459	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:603459C>T	uc002chi.3	+	13	3567	c.3204C>T	c.(3202-3204)acC>acT	p.T1068T	SOLH_uc002chj.3_Silent_p.T128T	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	1068					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1068T(2)		breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CCAAGGGGACCCACAGCCCCC	0.687													T	603459	C	T	603459	2	4	77	1	0	0	0	0	0	0	0	1	14925	610	22	3		3	SOLH	16	603459	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08		603459	89751294	56	5093											
WDR90	197335	broad.mit.edu	37	16	715745	715745	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:715745C>T	uc002cii.1	+	34	4432	c.4378C>T	c.(4378-4380)Cgg>Tgg	p.R1460W	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.R75W|WDR90_uc002cio.1_Missense_Mutation_p.R59W|WDR90_uc010bqx.1_Missense_Mutation_p.R59W|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1460										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGGGAGTGTGCGGGTGTGGGC	0.672													T	715745	C	T	715745	3	4	77	1	0	0	0	0	1	0	0	0	17334	759	27	1	4516	1	WDR90	16	715745	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	112286	715745	89639008	57	5094											
OTOA	146183	broad.mit.edu	37	16	21698817	21698817	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:21698817C>T	uc002djh.3	+	6	484	c.483C>T	c.(481-483)ctC>ctT	p.L161L	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.L82L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	161					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCTGTTTCTCATCACACTGG	0.542													T	21698817	C	T	21698817	2	4	77	1	0	0	0	0	0	0	0	1	11302	813	29	3		3	OTOA	16	21698817	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	20983072	21698817	68655936	58	5095											
SCNN1G	6340	broad.mit.edu	37	16	23226433	23226433	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:23226433C>A	uc002dlm.1	+	12	1732	c.1593C>A	c.(1591-1593)ttC>ttA	p.F531L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	531					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTCCAACTTCGGTGGCCAGC	0.547													A	23226433	C	A	23226433	3	1	77	1	0	0	0	0	1	0	0	0	13930	883	31	5	1639	5	SCNN1G	16	23226433	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	1527616	23226433	67128320	59	5096											
ITGAD	3681	broad.mit.edu	37	16	31409190	31409190	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:31409190G>A	uc010cap.1	+	4	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S	ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	129					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						TGCTGGGCTCGCGCTGGGAGA	0.642													A	31409190	G	A	31409190	2	1	77	1	0	0	0	0	0	0	0	1	7884	1074	38	1		1	ITGAD	16	31409190	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	8182757	31409190	58945563	60	5097											
NLRC5	84166	broad.mit.edu	37	16	57054711	57054711	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:57054711C>T	uc021tiu.1	+	1	214	c.87C>T	c.(85-87)aaC>aaT	p.N29N	NLRC5_uc021tit.1_Silent_p.N29N|NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	29					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATGGCTGAACGCCAAGATGA	0.562													T	57054711	C	T	57054711	2	4	77	1	0	0	0	0	0	0	0	1	10470	535	19	1		1	NLRC5	16	57054711	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	25645521	57054711	33300042	61	5098											
NLRC5	84166	broad.mit.edu	37	16	57088674	57088674	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:57088674C>T	uc021tiu.1	+	23	3645	c.3518C>T	c.(3517-3519)aCg>aTg	p.T1173M	NLRC5_uc021tiv.1_Missense_Mutation_p.T978M|NLRC5_uc021tiw.1_Missense_Mutation_p.T948M|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.T89M	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1173					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGAGCCAGACGGGACTGTCC	0.592													T	57088674	C	T	57088674	3	4	77	1	0	0	0	0	1	0	0	0	10470	536	19	1	3608	1	NLRC5	16	57088674	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	33963	57088674	33266079	62	5099											
KCTD19	146212	broad.mit.edu	37	16	67325657	67325657	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:67325657C>T	uc002esu.2	-	12	2353	c.2302G>A	c.(2302-2304)Gtg>Atg	p.V768M	KCTD19_uc002est.2_Missense_Mutation_p.V540M|KCTD19_uc010vjj.1_Missense_Mutation_p.V511M	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	768						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGA	0.572													T	67325657	C	T	67325657	3	4	77	1	0	0	0	0	1	0	0	0	8106	536	19	1	494	1	KCTD19	16	67325657	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	10236983	67325657	23029096	63	5100											
PKD1L2	114780	broad.mit.edu	37	16	81187697	81187697	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:81187697G>C	uc002fgh.1	-	25	4275	c.4275C>G	c.(4273-4275)caC>caG	p.H1425Q	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1425	PLAT.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			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						GATCAGCCAGGTGGTGGGGCT	0.607													C	81187697	G	C	81187697	3	2	77	1	0	0	0	0	1	0	0	0	11965	1252	44	5	3175	5	PKD1L2	16	81187697	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	13862040	81187697	9167056	64	5101											
TP53	7157	broad.mit.edu	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:7578280G>A	uc002gim.2	-	5	763	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_uc002gig.1_Missense_Mutation_p.P190L|TP53_uc002gih.3_Missense_Mutation_p.P190L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P58L|TP53_uc010cnf.1_Missense_Mutation_p.P58L|TP53_uc002gii.1_Missense_Mutation_p.P58L|TP53_uc010cni.1_Missense_Mutation_p.P190L|TP53_uc010cnh.1_Missense_Mutation_p.P190L|TP53_uc002gij.2_Missense_Mutation_p.P190L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97L|TP53_uc002gio.2_Missense_Mutation_p.P58L|TP53_uc010vug.2_Missense_Mutation_p.P151L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P190L(43)|p.P190fs*57(12)|p.P190del(12)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(7)|p.P190S(6)|p.P190F(4)|p.A189V(4)|p.P190R(4)|p.P190T(4)|p.A189T(3)|p.A189_Q192>E(2)|p.G187fs*16(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.A189P(2)|p.A189fs*53(2)|p.P190H(2)|p.A189G(2)|p.A189A(2)|p.L188_P191del(2)|p.A189_P190>X(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.P190P(1)|p.P191fs*18(1)|p.A189S(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.A189fs*58(1)|p.A189D(1)|p.P97fs*57(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)		ATGCTGAGGAGGGGCCAGACC	0.552		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)			A	7578280	G	A	7578280	3	1	77	1	0	0	0	0	1	0	0	0	16378	1000	35	3	725	3	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		7578280	73616930	65	5102											
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:7578466G>T	uc002gim.2	-	4	658	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)			T	7578466	G	T	7578466	3	4	77	1	0	0	0	0	1	0	0	0	16378	1261	44	5	834	5	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	186	7578466	73616744	66	5103											
ODF4	146852	broad.mit.edu	37	17	8243550	8243550	+	Missense_Mutation	SNP	C	C	T	rs147153349		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:8243550C>T	uc002gle.1	+	0	363	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R61S(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592													T	8243550	C	T	8243550	3	4	77	1	0	0	0	0	1	0	0	0	10833	768	27	1	183	1	ODF4	17	8243550	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	665084	8243550	72951660	67	5104											
MYH13	8735	broad.mit.edu	37	17	10213133	10213133	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:10213133G>A	uc002gmk.1	-	33	4761	c.4671C>T	c.(4669-4671)caC>caT	p.H1557H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1557					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCTCTCCTCGTGTTCCAAGG	0.498													A	10213133	G	A	10213133	2	1	77	1	0	0	0	0	0	0	0	1	10032	1136	40	1		1	MYH13	17	10213133	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	1969583	10213133	70982077	68	5105											
KRT27	342574	broad.mit.edu	37	17	38936090	38936090	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:38936090C>T	uc002hvg.3	-	3	749	c.708G>A	c.(706-708)gcG>gcA	p.A236A		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	236	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A236A(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCCTCCAGCCGCGCACTGAA	0.488													T	38936090	C	T	38936090	2	4	77	1	0	0	0	0	0	0	0	1	8464	639	23	2		2	KRT27	17	38936090	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	28722957	38936090	42259120	69	5106											
SEPT4	5414	broad.mit.edu	37	17	56599396	56599396	+	Silent	SNP	C	C	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:56599396C>A	uc010wnx.2	-	6	919	c.774G>T	c.(772-774)ctG>ctT	p.L258L	SEPT4_uc002iwk.2_Silent_p.L96L|SEPT4_uc010wnw.2_Silent_p.L96L|SEPT4_uc002iwl.2_Silent_p.L96L|SEPT4_uc002iwm.2_Silent_p.L243L|SEPT4_uc002iwo.2_Silent_p.L224L|SEPT4_uc002iwp.2_Silent_p.L224L|SEPT4_uc010wny.2_Silent_p.L235L|SEPT4_uc010dcy.2_Silent_p.L125L	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	243					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTTTCGGTTCAGGCCACTCT	0.542													A	56599396	C	A	56599396	2	1	77	1	0	0	0	0	0	0	0	1	14066	813	29	5		5	SEPT4	17	56599396	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	17663306	56599396	24595814	70	5107											
CASKIN2	57513	broad.mit.edu	37	17	73498060	73498062	+	In_Frame_Del	DEL	GGA	GGA	-	rs150879399		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:73498060_73498062delGGA	uc002joc.3	-	17	3643_3645	c.3093_3095delTCC	c.(3091-3096)cctcca>cca	p.1031_1032PP>P	CASKIN2_uc010wsc.2_In_Frame_Del_p.949_950PP>P	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	1031	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTAGAAGCTGGAGGAGACTCGC	0.69													-	73498062	GGA	-	73498060	7	5	77	1	0	1	0	1	0	0	0	0	2667	1348	47	0	525	0	CASKIN2	17	73498060	In_Frame_Del	DEL	GGA	TCGA-06-2559-01A-01D-1494-08	16898664	73498060	7697150	71	5108											
PTPRS	5802	broad.mit.edu	37	19	5221107	5221107	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:5221107T>C	uc002mbv.3	-	19	3593	c.3359A>G	c.(3358-3360)aAc>aGc	p.N1120S	PTPRS_uc002mbu.1_Missense_Mutation_p.N689S|PTPRS_uc010xin.2_Missense_Mutation_p.N689S|PTPRS_uc002mbw.3_Missense_Mutation_p.N1098S|PTPRS_uc002mbx.3_Missense_Mutation_p.N693S|PTPRS_uc002mby.3_Missense_Mutation_p.N689S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1120					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTTGAGCAGGTTGAAGGCAGT	0.622													C	5221107	T	C	5221107	3	2	77	1	0	0	0	0	1	0	0	0	12811	1725	60	4	2563	4	PTPRS	19	5221107	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08		5221107	53907876	72	5109											
EMR1	2015	broad.mit.edu	37	19	6928180	6928180	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:6928180G>A	uc002mfw.3	+	16	2285	c.2247G>A	c.(2245-2247)ggG>ggA	p.G749G	EMR1_uc010dvc.3_Silent_p.G684G|EMR1_uc010dvb.3_Silent_p.G697G|EMR1_uc010xji.2_Silent_p.G608G|EMR1_uc010xjj.2_Silent_p.G572G	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	749					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGAGACAGGGTTCATCTGGA	0.498													A	6928180	G	A	6928180	2	1	77	1	0	0	0	0	0	0	0	1	5104	1248	44	3		3	EMR1	19	6928180	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	1707073	6928180	52200803	73	5110											
ZNF333	84449	broad.mit.edu	37	19	14829286	14829286	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:14829286A>G	uc002mzn.3	+	11	1281	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	ZNF333_uc002mzk.4_Missense_Mutation_p.R274G	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGACCTTATCAGGCATGAGAA	0.453													G	14829286	A	G	14829286	3	3	77	1	0	0	0	0	1	0	0	0	17847	179	7	4	1189	4	ZNF333	19	14829286	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	7901106	14829286	44299697	74	5111											
OR7A17	26333	broad.mit.edu	37	19	14991924	14991924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:14991924G>A	uc010xob.2	-	0	244	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					ATGTTAATGAGCATCTTTGGG	0.473													A	14991924	G	A	14991924	3	1	77	1	0	0	0	0	1	0	0	0	11215	971	34	3	687	3	OR7A17	19	14991924	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	162638	14991924	44137059	75	5112											
PSG5	5673	broad.mit.edu	37	19	43679606	43679606	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:43679606G>A	uc002ovu.3	-	3	856	c.725C>T	c.(724-726)cCc>cTc	p.P242L	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.P242L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	242	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTAAATGCTGGGGAGGTCTGG	0.498													A	43679606	G	A	43679606	3	1	77	1	0	0	0	0	1	0	0	0	12658	1232	43	3	290	3	PSG5	19	43679606	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	28687682	43679606	15449377	76	5113											
LENG8	114823	broad.mit.edu	37	19	54969780	54969780	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:54969780C>T	uc002qfv.1	+	13	2353	c.2209C>T	c.(2209-2211)Cgc>Tgc	p.R737C	LENG8_uc002qfw.2_Intron|LENG8_uc021vbk.1_5'Flank			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	740							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCTCCTGGCCGCAGGCCTCC	0.602													T	54969780	C	T	54969780	3	4	77	1	0	0	0	0	1	0	0	0	8724	667	23	2		2	LENG8	19	54969780	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	11290174	54969780	4159203	77	5114											
KIR3DL2	3805	broad.mit.edu	37	19	55316286	55316286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:55316286G>A	uc010yfl.2	+	2	142	c.109G>A	c.(109-111)Gct>Act	p.A37T	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Missense_Mutation_p.A39T|KIR3DL2_uc002qhi.3_Missense_Mutation_p.A39T|KIR3DL2_uc021vbn.1_Missense_Mutation_p.A39T|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Missense_Mutation_p.A39T|KIR3DL2_uc010esd.3_Missense_Mutation_p.A39T|KIR3DL2_uc010ese.3_5'Flank	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	132					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGGCCCAGCGCTGTGGTGCC	0.582													A	55316286	G	A	55316286	3	1	77	1	0	0	0	0	1	0	0	0	8321	1087	38	1		1	KIR3DL2	19	55316286	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	346506	55316286	3812697	78	5115											
NLRP4	147945	broad.mit.edu	37	19	56369522	56369522	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:56369522C>T	uc002qmd.4	+	2	1185	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	NLRP4_uc002qmf.3_Missense_Mutation_p.R180W|NLRP4_uc010etf.3_Missense_Mutation_p.R86W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	255	NACHT.						ATP binding	p.R255R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GATGGAGAAACGGCCGGTGCA	0.577													T	56369522	C	T	56369522	3	4	77	1	0	0	0	0	1	0	0	0	10479	527	19	1	769	1	NLRP4	19	56369522	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	1053236	56369522	2759461	79	5116											
MAPK1	5594	broad.mit.edu	37	22	22142672	22142672	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr22:22142672G>A	uc002zvn.3	-	5	970	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	MAPK1_uc002zvo.3_Missense_Mutation_p.L244F|MAPK1_uc010gtk.1_Intron	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	244	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GGGGATCCAAGAATACCTATC	0.353													A	22142672	G	A	22142672	3	1	77	1	0	0	0	0	1	0	0	0	9271	942	33	3	364	3	MAPK1	22	22142672	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		22142672	29161894	80	5117											
IL2RB	3560	broad.mit.edu	37	22	37524496	37524496	+	Silent	SNP	G	G	T	rs143704470		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr22:37524496G>T	uc003aqv.1	-	9	1427	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	432					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			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)	CGAGGAGACTGGGGGAGAAGA	0.662													T	37524496	G	T	37524496	2	4	77	1	0	0	0	0	0	0	0	1	7687	1335	47	5		5	IL2RB	22	37524496	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	15381824	37524496	13780070	81	5118											
BCOR	54880	broad.mit.edu	37	X	39923055	39923055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:39923055C>T	uc004den.4	-	7	3945	c.3653G>A	c.(3652-3654)tGg>tAg	p.W1218*	BCOR_uc004dep.4_Nonsense_Mutation_p.W1184*|BCOR_uc004deo.4_Nonsense_Mutation_p.W1166*|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Nonsense_Mutation_p.W1184*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1218					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGCTGCTCCCATCGTTCTCT	0.542			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39923055	C	T	39923055	4	4	77	1	0	0	0	0	0	1	0	0	1386	595	21	3	1646	3	BCOR	23	39923055	Nonsense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		39923055	115347505	82	5119											
TAF1	6872	broad.mit.edu	37	X	70680612	70680612	+	Silent	SNP	C	C	T			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:70680612C>T	uc004dzu.4	+	36	5406	c.5355C>T	c.(5353-5355)gaC>gaT	p.D1785D	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.D1806D|TAF1_uc004dzv.4_Silent_p.D993D|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Silent_p.D210D|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1785	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATGAGGGAGACGGTGGGGAGG	0.507													T	70680612	C	T	70680612	2	4	77	1	0	0	0	0	0	0	0	1	15510	535	19	1		1	TAF1	23	70680612	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	30757557	70680612	84589948	83	5120											
CYLC1	1538	broad.mit.edu	37	X	83128394	83128394	+	Silent	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:83128394G>A	uc004eei.1	+	3	699	c.678G>A	c.(676-678)agG>agA	p.R226R	CYLC1_uc004eeh.1_Silent_p.R225R	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	226					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATTTGAAGAGGTCAAAGACTA	0.318													A	83128394	G	A	83128394	2	1	77	1	0	0	0	0	0	0	0	1	4141	1252	44	3		3	CYLC1	23	83128394	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	12447782	83128394	72142166	84	5121											
PCDH11X	27328	broad.mit.edu	37	X	91132792	91132792	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:91132792G>A	uc004efk.2	+	1	2398	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	PCDH11X_uc004efl.2_Missense_Mutation_p.R518H|PCDH11X_uc010nmv.2_Missense_Mutation_p.R518H|PCDH11X_uc004efm.2_Missense_Mutation_p.R518H|PCDH11X_uc004efn.2_Missense_Mutation_p.R518H|PCDH11X_uc004efo.2_Missense_Mutation_p.R518H|PCDH11X_uc004efh.2_Missense_Mutation_p.R518H|PCDH11X_uc004efj.1_Missense_Mutation_p.R518H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	518	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R518S(1)		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						CTGGATTGTCGTACAGGCATG	0.433													A	91132792	G	A	91132792	3	1	77	1	0	0	0	0	1	0	0	0	11508	1145	40	1	1559	1	PCDH11X	23	91132792	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	8004398	91132792	64137768	85	5122											
PUM1	9698	broad.mit.edu	37	1	31409615	31409615	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:31409615A>C	uc001bsi.1	-	20	3417	c.3304T>G	c.(3304-3306)Tgc>Ggc	p.C1102G	PUM1_uc001bsf.1_Missense_Mutation_p.C770G|PUM1_uc001bsh.1_Missense_Mutation_p.C1104G|PUM1_uc001bsj.1_Missense_Mutation_p.C1078G|PUM1_uc010oga.1_Missense_Mutation_p.C960G|PUM1_uc001bsk.1_Missense_Mutation_p.C1140G|PUM1_uc010ogb.1_Missense_Mutation_p.C1043G|SNORD103A_uc021okk.1_5'Flank	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1102	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTCATGGTGCACACCTCATCG	0.522													C	31409615	A	C	31409615	3	2	78	1	0	0	0	0	1	0	0	0	12825	159	6	5	264	5	PUM1	1	31409615	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08		31409615	217841006	1	5123											
SOAT1	6646	broad.mit.edu	37	1	179304764	179304764	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:179304764G>A	uc001gml.3	+	3	532	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SOAT1_uc010pni.2_Missense_Mutation_p.E36K|SOAT1_uc001gmm.3_Missense_Mutation_p.E43K|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.E36K	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	101					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTCTGTTCTTGAAGGAGAGAA	0.393													A	179304764	G	A	179304764	3	1	78	1	0	0	0	0	1	0	0	0	14910	1291	45	3	311	3	SOAT1	1	179304764	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	147895149	179304764	69945857	2	5124			1	14		2	2	30	G		4.40282e-05
SOAT1	6646	broad.mit.edu	37	1	179304793	179304793	+	Splice_Site	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:179304793G>C	uc001gml.3	+	4	560	c.329_splice	c.e4+1	p.K110_splice	SOAT1_uc010pni.2_Splice_Site_p.K45_splice|SOAT1_uc001gmm.3_Splice_Site_p.K52_splice|SOAT1_uc010pnj.2_Splice_Site|SOAT1_uc010pnk.2_Splice_Site_p.K45_splice	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATAGAGCGAAGTAAGTATGTG	0.398													C	179304793	G	C	179304793	5	2	78	1	0	0	0	0	0	0	1	0	14910	1043	36	5	340	5	SOAT1	1	179304793	Splice_Site	SNP	G	TCGA-06-2561-01A-02D-1494-08	29	179304793	69945828	3	5125			1	14		2	2	30	G		4.40282e-05
KCNT2	343450	broad.mit.edu	37	1	196398829	196398829	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:196398829G>T	uc001gtd.1	-	8	757	c.697C>A	c.(697-699)Ctt>Att	p.L233I	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.L233I|KCNT2_uc001gtf.1_Missense_Mutation_p.L233I|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.L233I|KCNT2_uc009wyv.1_Missense_Mutation_p.L208I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	233						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S232F(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						CAGAAATAAAGGGAGTCAAAG	0.393													T	196398829	G	T	196398829	3	4	78	1	0	0	0	0	1	0	0	0	8092	1000	35	5	2790	5	KCNT2	1	196398829	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	17094036	196398829	52851792	4	5126											
BCL11A	53335	broad.mit.edu	37	2	60679781	60679781	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:60679781G>A	uc002sab.3	-	4	2479	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	BCL11A_uc002sac.3_Silent_p.F217F|BCL11A_uc010ypi.2_Missense_Mutation_p.R420W|BCL11A_uc010ypj.2_Silent_p.F767F	NM_018014	NP_060484	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 2, mRNA.	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTACTACGCCGAATGGGGGTG	0.498			T	IGH@	B-CLL								A	60679781	G	A	60679781	3	1	78	1	0	0	0	0	1	0	0	0	1363	1058	37	2	84	2	BCL11A	2	60679781	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		60679781	182519592	5	5127											
ALMS1	7840	broad.mit.edu	37	2	73717955	73717955	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:73717955G>C	uc002sje.1	+	9	8977	c.8866G>C	c.(8866-8868)Gct>Cct	p.A2956P	ALMS1_uc002sjf.1_Missense_Mutation_p.A2914P|ALMS1_uc002sjg.3_Missense_Mutation_p.A2344P|ALMS1_uc002sjh.1_Missense_Mutation_p.A2344P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2956					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGATTCTATAGCTTCAGACCT	0.438													C	73717955	G	C	73717955	3	2	78	1	0	0	0	0	1	0	0	0	535	971	34	5	8904	5	ALMS1	2	73717955	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	13038174	73717955	169481418	6	5128			2	15		2	2	31	G		4.554638e-05
ALMS1	7840	broad.mit.edu	37	2	73717985	73717985	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:73717985G>C	uc002sje.1	+	9	9007	c.8896G>C	c.(8896-8898)Gaa>Caa	p.E2966Q	ALMS1_uc002sjf.1_Missense_Mutation_p.E2924Q|ALMS1_uc002sjg.3_Missense_Mutation_p.E2354Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E2354Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2966					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTCTCTTGAACAATGCCA	0.428													C	73717985	G	C	73717985	3	2	78	1	0	0	0	0	1	0	0	0	535	1291	45	5	8934	5	ALMS1	2	73717985	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	30	73717985	169481388	7	5129			2	15		2	2	31	G		4.554638e-05
TTN	7273	broad.mit.edu	37	2	179623871	179623871	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:179623871G>T	uc021vsy.1	-	43	10368	c.10143C>A	c.(10141-10143)gaC>gaA	p.D3381E	TTN_uc021vsz.1_Missense_Mutation_p.D3335E|TTN_uc021vta.1_Missense_Mutation_p.D3335E|TTN_uc021vtb.1_Missense_Mutation_p.D3335E|TTN_uc002umz.1_Missense_Mutation_p.D42E|TTN_uc002unb.2_Missense_Mutation_p.D3381E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4324	Ig-like 20.						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)			TGATTTTCTTGTCTTTGCTGT	0.368													T	179623871	G	T	179623871	3	4	78	1	0	0	0	0	1	0	0	0	16732	1368	48	5	101121	5	TTN	2	179623871	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	105905886	179623871	63575502	8	5130											
AOX1	316	broad.mit.edu	37	2	201527627	201527627	+	Missense_Mutation	SNP	G	G	A	rs142723794	byFrequency	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:201527627G>A	uc002uvx.3	+	30	3579	c.3478G>A	c.(3478-3480)Gaa>Aaa	p.E1160K	AOX1_uc010zhf.2_Missense_Mutation_p.E716K|AOX1_uc010fsu.3_Missense_Mutation_p.E526K	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1160					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			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)	CCAGCCCTTCGAATACTTTGT	0.483													A	201527627	G	A	201527627	3	1	78	1	0	0	0	0	1	0	0	0	729	1059	37	2	3600	2	AOX1	2	201527627	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	21903756	201527627	41671746	9	5131											
CREB1	1385	broad.mit.edu	37	2	208434967	208434971	+	Frame_Shift_Del	DEL	GAAGA	GAAGA	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:208434967_208434971delGAAGA	uc002vcc.3	+	5	720_724	c.469_473delGAAGA	c.(469-474)gaagagfs	p.E157fs	CREB1_uc010ziz.1_Frame_Shift_Del_p.E141fs|CREB1_uc002vcd.3_Frame_Shift_Del_p.E143fs|CREB1_uc010zja.1_Non-coding_Transcript	NM_134442	NP_604391	P16220	CREB1_HUMAN	Homo sapiens cAMP responsive element binding protein 1 (CREB1), transcript variant B, mRNA.	157	KID.				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	AGAGAAGTCTGAAGAGGAGACTTCA	0.371			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"								-	208434971	GAAGA	-	208434967	7	5	78	1	0	1	0	1	0	0	0	0	3854	1291	45	0	487	0	CREB1	2	208434967	Frame_Shift_Del	DEL	GAAGA	TCGA-06-2561-01A-02D-1494-08	6907340	208434967	34764406	10	5132											
XRCC5	7520	broad.mit.edu	37	2	216995664	216995664	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:216995664C>T	uc002vfy.3	+	8	1144	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	XRCC5_uc002vfz.3_Missense_Mutation_p.S221L	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	335	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAATATAAATCGGAGGGGAAG	0.368								Non-homologous end-joining					T	216995664	C	T	216995664	3	4	78	1	0	0	0	0	1	0	0	0	17453	893	31	2	1038	2	XRCC5	2	216995664	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	8560697	216995664	26203709	11	5133											
SRGAP3	9901	broad.mit.edu	37	3	9055068	9055068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:9055068C>A	uc003brf.1	-	16	2747	c.2071G>T	c.(2071-2073)Gaa>Taa	p.E691*	SRGAP3_uc003brg.1_Nonsense_Mutation_p.E667*	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	691					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AAGATGGCTTCATGATGGATG	0.512			T	RAF1	pilocytic astrocytoma								A	9055068	C	A	9055068	4	1	78	1	0	0	0	0	0	1	0	0	15146	835	29	5	1252	5	SRGAP3	3	9055068	Nonsense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		9055068	188967362	12	5134											
FANCD2	2177	broad.mit.edu	37	3	10107617	10107617	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:10107617C>T	uc003buw.3	+	24	2417	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L	FANCD2_uc003bux.1_Missense_Mutation_p.S780L|FANCD2_uc003buy.1_Missense_Mutation_p.S780L|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	780					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGAGCGTTCATTCATGTGT	0.403			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	10107617	C	T	10107617	3	4	78	1	0	0	0	0	1	0	0	0	5665	838	29	3	2433	3	FANCD2	3	10107617	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	1052549	10107617	187914813	13	5135											
KIAA1211	57482	broad.mit.edu	37	4	57189557	57189557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr4:57189557C>T	uc003hbk.2	+	8	3593	c.3202C>T	c.(3202-3204)Cag>Tag	p.Q1068*	KIAA1211_uc010iha.2_Nonsense_Mutation_p.Q1061*	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1068										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)					GCCGATGCTTCAGAGCAGACA	0.468													T	57189557	C	T	57189557	4	4	78	1	0	0	0	0	0	1	0	0	8215	827	29	3	3224	3	KIAA1211	4	57189557	Nonsense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		57189557	133964719	14	5136											
ALB	213	broad.mit.edu	37	4	74283255	74283255	+	Missense_Mutation	SNP	G	G	T	rs141626688		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr4:74283255G>T	uc003hgs.4	+	10	1370	c.1297G>T	c.(1297-1299)Gtt>Ttt	p.V433F	ALB_uc011cbe.2_Missense_Mutation_p.V112F|ALB_uc003hgw.4_Missense_Mutation_p.V241F|ALB_uc011cbf.2_Missense_Mutation_p.V323F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	433	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CAGGCTATTAGTTCGTTACAC	0.398													T	74283255	G	T	74283255	3	4	78	1	0	0	0	0	1	0	0	0	486	1029	36	5	1339	5	ALB	4	74283255	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	17093698	74283255	116871021	15	5137											
ATP10B	23120	broad.mit.edu	37	5	160063304	160063304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr5:160063304C>T	uc003lym.1	-	10	1860	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	ATP10B_uc003lyp.2_Nonsense_Mutation_p.W338*|ATP10B_uc011deg.1_Nonsense_Mutation_p.W382*|ATP10B_uc003lyn.3_5'Flank|ATP10B_uc003lyo.2_Nonsense_Mutation_p.W310*	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	338					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCCATTCCAGATGCTGTG	0.498													T	160063304	C	T	160063304	4	4	78	1	0	0	0	0	0	1	0	0	1117	595	21	3	3436	3	ATP10B	5	160063304	Nonsense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		160063304	20851956	16	5138											
CLIC5	53405	broad.mit.edu	37	6	45882089	45882089	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr6:45882089G>C	uc003oxv.3	-	4	1047	c.941C>G	c.(940-942)cCt>cGt	p.P314R	CLIC5_uc003oxu.3_Missense_Mutation_p.P155R|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Missense_Mutation_p.P155R	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	314	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTCTGGTAGAGGGGTGTTCAG	0.512													C	45882089	G	C	45882089	3	2	78	1	0	0	0	0	1	0	0	0	3529	1000	35	5	299	5	CLIC5	6	45882089	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		45882089	125232978	17	5139											
SNAP91	9892	broad.mit.edu	37	6	84284736	84284736	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr6:84284736G>A	uc021zcf.1	-	24	2465	c.2435C>T	c.(2434-2436)gCa>gTa	p.A812V	SNAP91_uc011dzd.2_Missense_Mutation_p.A310V|SNAP91_uc003pka.3_Missense_Mutation_p.A810V|SNAP91_uc011dze.2_Missense_Mutation_p.A810V|SNAP91_uc003pkc.3_Missense_Mutation_p.A782V|SNAP91_uc003pkd.3_Missense_Mutation_p.A505V|SNAP91_uc003pkb.3_Missense_Mutation_p.A721V	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	812	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TACCAAAGGTGCACTTGGTGG	0.522													A	84284736	G	A	84284736	3	1	78	1	0	0	0	0	1	0	0	0	14833	1319	46	3	304	3	SNAP91	6	84284736	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	38402647	84284736	86830331	18	5140											
EGFR	1956	broad.mit.edu	37	7	55214319	55214319	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr7:55214319C>T	uc003tqk.3	+	3	691	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	EGFR_uc003tqh.3_Missense_Mutation_p.R149W|EGFR_uc003tqi.3_Missense_Mutation_p.R149W|EGFR_uc003tqj.3_Missense_Mutation_p.R149W|EGFR_uc022adm.1_Missense_Mutation_p.R149W|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Missense_Mutation_p.R96W	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	149					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGGCGCCGTGCGGTTCAGCAA	0.532		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55214319	C	T	55214319	3	4	78	1	0	0	0	0	1	0	0	0	4967	759	27	1	459	1	EGFR	7	55214319	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		55214319	103924344	19	5141											
PIK3CG	5294	broad.mit.edu	37	7	106508473	106508473	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr7:106508473C>T	uc003vdv.4	+	1	552	c.467C>T	c.(466-468)gCg>gTg	p.A156V	PIK3CG_uc003vdu.3_Missense_Mutation_p.A156V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A156V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	156					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.T155T(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						CAGCTCACGGCGCTGATTGGC	0.682													T	106508473	C	T	106508473	3	4	78	1	0	0	0	0	1	0	0	0	11916	768	27	1	469	1	PIK3CG	7	106508473	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	51294154	106508473	52630190	20	5142											
POLR3D	661	broad.mit.edu	37	8	22106786	22106786	+	Silent	SNP	C	C	T	rs139222181	byFrequency	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr8:22106786C>T	uc003xbl.3	+	6	968	c.885C>T	c.(883-885)gaC>gaT	p.D295D	POLR3D_uc003xbm.3_Silent_p.D295D|POLR3D_uc011kze.2_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	295					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGGGCGAGGACGGACAGGTGG	0.597													T	22106786	C	T	22106786	2	4	78	1	0	0	0	0	0	0	0	1	12231	535	19	1		1	POLR3D	8	22106786	Silent	SNP	C	TCGA-06-2561-01A-02D-1494-08		22106786	124257236	21	5143											
MLLT3	4300	broad.mit.edu	37	9	20448206	20448206	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr9:20448206delG	uc003zoe.2	-	3	594	c.335delC	c.(334-336)ccafs	p.P112fs	MLLT3_uc011lne.1_Frame_Shift_Del_p.P80fs|MLLT3_uc011lnf.1_Frame_Shift_Del_p.P109fs|MLLT3_uc003zof.3_Intron	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	112	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			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)		ATTCACTGGTGGATGGCCTTC	0.448			T	MLL	ALL								-	20448206	G	-	20448206	7	5	78	1	0	1	0	1	0	0	0	0	9628	1348	47	0	1403	0	MLLT3	9	20448206	Frame_Shift_Del	DEL	G	TCGA-06-2561-01A-02D-1494-08		20448206	120765225	22	5144											
OR1B1	347169	broad.mit.edu	37	9	125391091	125391091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr9:125391091G>A	uc011lyz.2	-	0	724	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R241C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GAGACTGCTCGGCGGCGACCA	0.557													A	125391091	G	A	125391091	4	1	78	1	0	0	0	0	0	1	0	0	10951	1124	39	2	235	2	OR1B1	9	125391091	Nonsense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	104942885	125391091	15822340	23	5145											
PTEN	5728	broad.mit.edu	37	10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr10:89720799_89720802delTACT	uc001kfb.3	+	7	1982_1985	c.950_953delTACT	c.(949-954)gtacttfs	p.V317fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	317	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L318fs*2(49)|p.0?(37)|p.T319fs*1(12)|p.V317fs*3(8)|p.R55fs*1(5)|p.V317fs*6(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.L318F(2)|p.T318fs*2(2)|p.G165_*404del(1)|p.L318fs*3(1)|p.G165_K342del(1)|p.L316fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720802	TACT	-	89720799	7	5	78	1	0	1	0	1	0	0	0	0	12738	1638	57	0	980	0	PTEN	10	89720799	Frame_Shift_Del	DEL	TACT	TCGA-06-2561-01A-02D-1494-08		89720799	45813948	24	5146											
MEN1	4221	broad.mit.edu	37	11	64575552	64575552	+	Silent	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr11:64575552G>A	uc001obj.3	-	2	553	c.480C>T	c.(478-480)tcC>tcT	p.S160S	MEN1_uc001obk.3_Silent_p.S160S|MEN1_uc001obl.3_Silent_p.S155S|MEN1_uc001obm.3_Silent_p.S155S|MEN1_uc001obn.3_Silent_p.S160S|MEN1_uc001obo.3_Silent_p.S160S|MEN1_uc001obq.3_Silent_p.S160S|MEN1_uc001obr.3_Silent_p.S160S	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	160			S -> F (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.F159C(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGCCACACCGGAGCTGTCCA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				A	64575552	G	A	64575552	2	1	78	1	0	0	0	0	0	0	0	1	9472	1103	39	2		2	MEN1	11	64575552	Silent	SNP	G	TCGA-06-2561-01A-02D-1494-08		64575552	70430964	25	5147											
MTNR1B	4544	broad.mit.edu	37	11	92715286	92715286	+	Silent	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr11:92715286C>T	uc001pdk.1	+	1	1000	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	299					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TGGCTTATTTCAACAGCTGCC	0.522													T	92715286	C	T	92715286	2	4	78	1	0	0	0	0	0	0	0	1	9952	825	29	3		3	MTNR1B	11	92715286	Silent	SNP	C	TCGA-06-2561-01A-02D-1494-08	28139734	92715286	42291230	26	5148											
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	78	1	0	0	0	0	1	0	0	0	8438	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		25398284	108453611	27	5149											
ADCY6	112	broad.mit.edu	37	12	49169145	49169145	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:49169145G>A	uc001rsh.4	-	9	2581	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	ADCY6_uc001rsi.4_Missense_Mutation_p.R641W|ADCY6_uc001rsj.4_Missense_Mutation_p.R641W|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	641					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.R641L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGTCCTTCCGCAGCTGATCA	0.597													A	49169145	G	A	49169145	3	1	78	1	0	0	0	0	1	0	0	0	298	1086	38	1	1633	1	ADCY6	12	49169145	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	23770861	49169145	84682750	28	5150											
SLC5A8	160728	broad.mit.edu	37	12	101555815	101555815	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:101555815A>G	uc001thz.4	-	12	1957	c.1567T>C	c.(1567-1569)Tac>Cac	p.Y523H		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	523					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGAAGTACAGATATGAT	0.358													G	101555815	A	G	101555815	3	3	78	1	0	0	0	0	1	0	0	0	14671	391	14	4	277	4	SLC5A8	12	101555815	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08	52386670	101555815	32296080	29	5151											
DYX1C1	161582	broad.mit.edu	37	15	55790519	55790520	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:55790519_55790520delAA	uc002adc.3	-	1	376_377	c.8_9delTT	c.(7-9)cttfs	p.L3fs	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Frame_Shift_Del_p.L3fs|DYX1C1_uc002add.3_Frame_Shift_Del_p.L3fs	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	3	CS.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CGCTAACCTGAAGAGGCATTCC	0.599													-	55790520	AA	-	55790519	7	5	78	1	0	1	0	1	0	0	0	0	4862	233	9	0	1392	0	DYX1C1	15	55790519	Frame_Shift_Del	DEL	AA	TCGA-06-2561-01A-02D-1494-08		55790519	46740873	30	5152											
GOLGA6A	342096	broad.mit.edu	37	15	74365151	74365151	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:74365151A>C	uc002axa.1	-	12	1474	c.1433T>G	c.(1432-1434)cTa>cGa	p.L478R	DQ582073_uc021sqc.1_5'Flank|DQ596164_uc021sqd.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	478										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGCAGCTTCTAGGTGCTCCTA	0.612													C	74365151	A	C	74365151	3	2	78	1	0	0	0	0	1	0	0	0	6557	420	15	5	672	5	GOLGA6A	15	74365151	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08	18574632	74365151	28166241	31	5153											
GOLGA6D	653643	broad.mit.edu	37	15	75580652	75580652	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:75580652G>A	uc010uma.2	+	6	546	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K		NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN	Homo sapiens golgin A6 family, member D (GOLGA6D), mRNA.	171										kidney(1)|lung(1)	2						GCATATTCAAGAATTGGAGCG	0.557													A	75580652	G	A	75580652	3	1	78	1	0	0	0	0	1	0	0	0	6560	943	33	3	537	3	GOLGA6D	15	75580652	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	1215501	75580652	26950740	32	5154											
TTLL13	440307	broad.mit.edu	37	15	90802040	90802040	+	Silent	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:90802040C>T	uc002bpd.1	+	9	1521	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	411	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ATGCACTTCTCTGTGATGCTA	0.512													T	90802040	C	T	90802040	2	4	78	1	0	0	0	0	0	0	0	1	16723	900	32	3		3	TTLL13	15	90802040	Silent	SNP	C	TCGA-06-2561-01A-02D-1494-08	15221388	90802040	11729352	33	5155											
DNAH3	55567	broad.mit.edu	37	16	21145587	21145587	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr16:21145587A>G	uc010vbe.2	-	6	1075	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L	DNAH3_uc002die.2_Missense_Mutation_p.F330L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	359	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACTCTGCAAACCACAGTTCT	0.527													G	21145587	A	G	21145587	3	3	78	1	0	0	0	0	1	0	0	0	4603	43	2	4	11498	4	DNAH3	16	21145587	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08		21145587	69209166	34	5156											
SPAG5	10615	broad.mit.edu	37	17	26911445	26911445	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:26911445G>C	uc002hbq.3	-	11	2307	c.2215C>G	c.(2215-2217)Cta>Gta	p.L739V	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	739	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGACTCTGTAGCTCTTTTAGC	0.512													C	26911445	G	C	26911445	3	2	78	1	0	0	0	0	1	0	0	0	14981	962	34	5	1418	5	SPAG5	17	26911445	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		26911445	54283765	35	5157											
HNF1B	6928	broad.mit.edu	37	17	36065013	36065013	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:36065013G>A	uc002hok.4	-	5	1471	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	HNF1B_uc021tvu.1_Missense_Mutation_p.T187M|HNF1B_uc010wdi.2_Missense_Mutation_p.T391M|HNF1B_uc021tvv.1_Missense_Mutation_p.T417M|HNF1B_uc021tvw.1_Missense_Mutation_p.T391M	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	417					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGATATTCGTCAAGGTGCT	0.478													A	36065013	G	A	36065013	3	1	78	1	0	0	0	0	1	0	0	0	7252	1145	40	1	439	1	HNF1B	17	36065013	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	9153568	36065013	45130197	36	5158											
FBXL20	84961	broad.mit.edu	37	17	37431297	37431297	+	Silent	SNP	G	G	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:37431297G>T	uc002hrt.3	-	9	1007	c.753C>A	c.(751-753)tcC>tcA	p.S251S	FBXL20_uc010cvu.3_Silent_p.S219S	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	251						cytoplasm				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)			AGGCACAAAGGGATTGTAACT	0.403													T	37431297	G	T	37431297	2	4	78	1	0	0	0	0	0	0	0	1	5717	1219	43	5		5	FBXL20	17	37431297	Silent	SNP	G	TCGA-06-2561-01A-02D-1494-08	1366284	37431297	43763913	37	5159											
POTEC	388468	broad.mit.edu	37	18	14542851	14542851	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr18:14542851C>T	uc010dln.3	-	0	749	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	99										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CACCACTTGCCCATCTTGCTC	0.622													T	14542851	C	T	14542851	3	4	78	1	0	0	0	0	1	0	0	0	12262	623	22	3	1377	3	POTEC	18	14542851	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		14542851	63534397	38	5160											
KCNG2	26251	broad.mit.edu	37	18	77659449	77659449	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr18:77659449G>A	uc010xfl.2	+	1	1034	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	345					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGGCCGAGCGCGAGCTGGGC	0.716													A	77659449	G	A	77659449	3	1	78	1	0	0	0	0	1	0	0	0	8028	1087	38	1	1040	1	KCNG2	18	77659449	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	63116598	77659449	417799	39	5161											
ITGB1BP3	27231	broad.mit.edu	37	19	3942189	3942189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:3942189G>A	uc010xia.2	+	6	840	c.626G>A	c.(625-627)cGc>cAc	p.R209H	ITGB1BP3_uc002lyz.4_Missense_Mutation_p.R204H	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	204					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCGGCTCGCCCAGCCAGG	0.647													A	3942189	G	A	3942189	3	1	78	1	0	0	0	0	1	0	0	0	7893	1087	38	1	637	1	ITGB1BP3	19	3942189	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		3942189	55186794	40	5162											
CCDC105	126402	broad.mit.edu	37	19	15132177	15132177	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:15132177C>T	uc002nae.2	+	3	986	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	296					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TGCGCCTTGGCGCTAAACGAA	0.597													T	15132177	C	T	15132177	3	4	78	1	0	0	0	0	1	0	0	0	2740	768	27	1	901	1	CCDC105	19	15132177	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	11189988	15132177	43996806	41	5163											
ZNF208	7757	broad.mit.edu	37	19	22155492	22155492	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:22155492A>C	uc021urr.1	-	3	2493	c.2344T>G	c.(2344-2346)Tgt>Ggt	p.C782G	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				GCTTTGCCACATTCTTCACAT	0.358													C	22155492	A	C	22155492	3	2	78	1	0	0	0	0	1	0	0	0	17763	217	8	5	1502	5	ZNF208	19	22155492	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08	7023315	22155492	36973491	42	5164											
LIPI	149998	broad.mit.edu	37	21	15561699	15561699	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr21:15561699T>C	uc002yjm.3	-	1	161	c.151A>G	c.(151-153)Aag>Gag	p.K51E	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.K30E|LIPI_uc021whh.1_Missense_Mutation_p.K30E|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.K30E|LIPI_uc021whe.1_Missense_Mutation_p.K30E|LIPI_uc021whf.1_Missense_Mutation_p.K30E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	30					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.K51N(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAGGAATCCTTTACACTTAGC	0.358													C	15561699	T	C	15561699	3	2	78	1	0	0	0	0	1	0	0	0	8825	1850	64	4	1330	4	LIPI	21	15561699	Missense_Mutation	SNP	T	TCGA-06-2561-01A-02D-1494-08		15561699	32568196	43	5165											
NUDT11	55190	broad.mit.edu	37	X	51239120	51239120	+	Silent	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:51239120G>A	uc010njt.3	-	0	340	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.	59	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CCGCCGCACCGCCCGGCTCCT	0.662										HNSCC(48;0.14)			A	51239120	G	A	51239120	2	1	78	1	0	0	0	0	0	0	0	1	10727	1074	38	1		1	NUDT11	23	51239120	Silent	SNP	G	TCGA-06-2561-01A-02D-1494-08		51239120	104031440	44	5166											
STAG2	10735	broad.mit.edu	37	X	123197901	123197901	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:123197901G>C	uc004eua.3	+	20	2429	c.2025_splice	c.e20+1	p.E675_splice	STAG2_uc004etz.4_Splice_Site_p.E675_splice|STAG2_uc004eub.3_Splice_Site_p.E675_splice|STAG2_uc004euc.3_Splice_Site_p.E675_splice|STAG2_uc004eud.3_Splice_Site_p.E675_splice|STAG2_uc004eue.3_Splice_Site_p.E675_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	675					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCTGCAAGAGGTATATATTA	0.358													C	123197901	G	C	123197901	3	2	78	1	0	0	0	0	1	0	0	0	15242	1014	35	5	2095	5	STAG2	23	123197901	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	71958781	123197901	32072659	45	5167											
DDX26B	203522	broad.mit.edu	37	X	134679466	134679466	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:134679466G>A	uc004eyw.4	+	2	671	c.308G>A	c.(307-309)aGa>aAa	p.R103K		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	103	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTCAATAGATTAATATCT	0.353													A	134679466	G	A	134679466	3	1	78	1	0	0	0	0	1	0	0	0	4353	942	33	3	318	3	DDX26B	23	134679466	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	11481565	134679466	20591094	46	5168											
SAGE1	55511	broad.mit.edu	37	X	134993470	134993470	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:134993470T>A	uc004ezh.3	+	16	2292	c.2125T>A	c.(2125-2127)Tgc>Agc	p.C709S	SAGE1_uc010nry.1_Missense_Mutation_p.C678S|SAGE1_uc011mvv.2_Missense_Mutation_p.C333S	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	709										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGGTATTTCATGCAGAAGTAC	0.453													A	134993470	T	A	134993470	3	1	78	1	0	0	0	0	1	0	0	0	13809	1464	51	5	2187	5	SAGE1	23	134993470	Missense_Mutation	SNP	T	TCGA-06-2561-01A-02D-1494-08	314004	134993470	20277090	47	5169											
FBLIM1	54751	broad.mit.edu	37	1	16093947	16093947	+	Silent	SNP	G	G	A	rs138682032		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:16093947G>A	uc001axd.1	+	4	770	c.327G>A	c.(325-327)ccG>ccA	p.P109P	FBLIM1_uc001axe.1_Silent_p.P109P|FBLIM1_uc001axg.1_Silent_p.P109P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	109	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCCCTCCACCGCCCCCTCCAG	0.657													A	16093947	G	A	16093947	2	1	79	1	0	0	0	0	0	0	0	1	5697	1074	38	1		1	FBLIM1	1	16093947	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08		16093947	233156674	1	5170											
AKR7A3	22977	broad.mit.edu	37	1	19615062	19615062	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:19615062C>G	uc001bbv.1	-	0	219	c.142G>C	c.(142-144)Gtg>Ctg	p.V48L		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	48					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTGTACACGAAGGCCGTG	0.711													G	19615062	C	G	19615062	3	3	79	1	0	0	0	0	1	0	0	0	476	536	19	5	881	5	AKR7A3	1	19615062	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	3521115	19615062	229635559	2	5171											
HIPK1	204851	broad.mit.edu	37	1	114508833	114508833	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:114508833G>T	uc001eem.3	+	10	2481	c.2320G>T	c.(2320-2322)Gtc>Ttc	p.V774F	HIPK1_uc001eel.3_Missense_Mutation_p.V774F|HIPK1_uc001een.3_Missense_Mutation_p.V774F|HIPK1_uc001eeo.3_Missense_Mutation_p.V400F|HIPK1_uc001eep.3_Missense_Mutation_p.V380F|HIPK1_uc001eeq.3_Missense_Mutation_p.V66F	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACAACTCTGTCCAGCCCAC	0.542													T	114508833	G	T	114508833	3	4	79	1	0	0	0	0	1	0	0	0	7116	1377	48	5	2376	5	HIPK1	1	114508833	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	94893771	114508833	134741788	3	5172	8	2									
HIPK1	204851	broad.mit.edu	37	1	114508840	114508840	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:114508840C>A	uc001eem.3	+	10	2488	c.2327C>A	c.(2326-2328)cCc>cAc	p.P776H	HIPK1_uc001eel.3_Missense_Mutation_p.P776H|HIPK1_uc001een.3_Missense_Mutation_p.P776H|HIPK1_uc001eeo.3_Missense_Mutation_p.P402H|HIPK1_uc001eep.3_Missense_Mutation_p.P382H|HIPK1_uc001eeq.3_Missense_Mutation_p.P68H	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGTCCAGCCCACAGCAATG	0.552													A	114508840	C	A	114508840	3	1	79	1	0	0	0	0	1	0	0	0	7116	623	22	5	2383	5	HIPK1	1	114508840	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	7	114508840	134741781	4	5173	8	2									
GBA	2630	broad.mit.edu	37	1	155186783	155186783	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:155186783C>T	uc001fjd.3	-	4	521	c.377G>A	c.(376-378)cGt>cAt	p.R126H	GBA_uc001fjf.4_Missense_Mutation_p.R87H|GBA_uc001fje.4_Missense_Mutation_p.R48H|GBA_uc021pau.1_Missense_Mutation_p.R48H			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	209					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TGAAACGGGACGCTGGGCCAA	0.582									Gaucher disease type I				T	155186783	C	T	155186783	3	4	79	1	0	0	0	0	1	0	0	0	6266	551	19	1		1	GBA	1	155186783	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	40677943	155186783	94063838	5	5174											
SMG5	23381	broad.mit.edu	37	1	156235769	156235769	+	Missense_Mutation	SNP	T	T	C	rs151295845	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:156235769T>C	uc001foc.4	-	11	1807	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	553					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAGTGGGCCATTGAGGGAATC	0.607													C	156235769	T	C	156235769	3	2	79	1	0	0	0	0	1	0	0	0	14796	1493	52	4	1436	4	SMG5	1	156235769	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	1048986	156235769	93014852	6	5175											
CADM3	57863	broad.mit.edu	37	1	159162382	159162382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:159162382C>T	uc001ftl.2	+	2	423	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CADM3_uc009wsx.1_Nonsense_Mutation_p.R116*|CADM3_uc009wsy.1_Nonsense_Mutation_p.R82*|CADM3_uc001ftk.2_Nonsense_Mutation_p.R116*	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	82	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGAGATAATCGAATTCAGCT	0.512													T	159162382	C	T	159162382	4	4	79	1	0	0	0	0	0	1	0	0	2568	876	31	2	360	2	CADM3	1	159162382	Nonsense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	2926613	159162382	90088239	7	5176											
PVRL4	81607	broad.mit.edu	37	1	161049728	161049728	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:161049728C>T	uc001fxo.2	-	1	390	c.91G>A	c.(91-93)Gcg>Acg	p.A31T		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	31					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTCACCCGCGGGGCACCGG	0.627													T	161049728	C	T	161049728	3	4	79	1	0	0	0	0	1	0	0	0	12842	768	27	1	1473	1	PVRL4	1	161049728	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	1887346	161049728	88200893	8	5177											
XCL1	6375	broad.mit.edu	37	1	168550427	168550427	+	Missense_Mutation	SNP	C	C	T	rs141027416		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:168550427C>T	uc001gfo.2	+	2	479	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	105					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					ACCCAGCAATCGACCAATACA	0.522													T	168550427	C	T	168550427	3	4	79	1	0	0	0	0	1	0	0	0	17420	893	31	2	324	2	XCL1	1	168550427	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	7500699	168550427	80700194	9	5178											
SELE	6401	broad.mit.edu	37	1	169697312	169697312	+	Missense_Mutation	SNP	C	C	T	rs139137736		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:169697312C>T	uc001ggm.4	-	7	1323	c.1166G>A	c.(1165-1167)cGt>cAt	p.R389H	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	389	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGACCCATAACGGAAACTGCC	0.522													T	169697312	C	T	169697312	3	4	79	1	0	0	0	0	1	0	0	0	14013	536	19	1	690	1	SELE	1	169697312	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	1146885	169697312	79553309	10	5179											
OR2M3	127062	broad.mit.edu	37	1	248367150	248367150	+	Missense_Mutation	SNP	C	C	T	rs147728074	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:248367150C>T	uc010pzg.2	+	0	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			CATGTACATACGGCCCACATC	0.502													T	248367150	C	T	248367150	3	4	79	1	0	0	0	0	1	0	0	0	11011	527	19	1	783	1	OR2M3	1	248367150	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	78669838	248367150	883471	11	5180											
ADD2	119	broad.mit.edu	37	2	70901894	70901894	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr2:70901894C>T	uc021vjc.1	-	13	1922	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.V553M|ADD2_uc002sgz.3_Missense_Mutation_p.V553M|ADD2_uc010fdt.2_Missense_Mutation_p.V553M	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	553					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGTTGGGCACCGTCTCCTCT	0.507													T	70901894	C	T	70901894	3	4	79	1	0	0	0	0	1	0	0	0	305	507	18	3	625	3	ADD2	2	70901894	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		70901894	172297479	12	5181											
TTN	7273	broad.mit.edu	37	2	179446906	179446906	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr2:179446906T>C	uc021vsy.1	-	263	58711	c.58486A>G	c.(58486-58488)Att>Gtt	p.I19496V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I13191V|TTN_uc021vta.1_Missense_Mutation_p.I13124V|TTN_uc021vtb.1_Missense_Mutation_p.I12999V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20423	Fibronectin type-III 41.						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)			ATGTTGCTAATAACAGGAGGA	0.418													C	179446906	T	C	179446906	3	2	79	1	0	0	0	0	1	0	0	0	16732	1406	49	4	41981	4	TTN	2	179446906	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	108545012	179446906	63752467	13	5182											
OR5H2	79310	broad.mit.edu	37	3	98002586	98002586	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:98002586C>T	uc003dsj.1	+	0	855	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTATACAATCATAATTCCTT	0.328													T	98002586	C	T	98002586	2	4	79	1	0	0	0	0	0	0	0	1	11162	816	29	3		3	OR5H2	3	98002586	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08		98002586	100019844	14	5183											
HCLS1	3059	broad.mit.edu	37	3	121350755	121350755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:121350755G>A	uc003eeh.4	-	13	1524	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	HCLS1_uc011bjj.2_Missense_Mutation_p.R430W	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	467	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CAACGTCCCCGCCACCAGCCC	0.507													A	121350755	G	A	121350755	3	1	79	1	0	0	0	0	1	0	0	0	6995	1086	38	1	65	1	HCLS1	3	121350755	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	23348169	121350755	76671675	15	5184											
ABTB1	80325	broad.mit.edu	37	3	127396603	127396603	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:127396603G>T	uc003ejt.3	+	9	1034	c.946G>T	c.(946-948)Ggc>Tgc	p.G316C	ABTB1_uc003ejr.3_Missense_Mutation_p.G174C|ABTB1_uc003ejs.3_Missense_Mutation_p.G291C|ABTB1_uc003eju.3_Missense_Mutation_p.G174C|ABTB1_uc010hsm.3_Missense_Mutation_p.G43C	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	316	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GACCTCAGGGGGCCCCCCAGC	0.642													T	127396603	G	T	127396603	3	4	79	1	0	0	0	0	1	0	0	0	102	1232	43	5	984	5	ABTB1	3	127396603	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	6045848	127396603	70625827	16	5185											
EPHB1	2047	broad.mit.edu	37	3	134967277	134967277	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:134967277G>A	uc003eqt.3	+	13	2991	c.2616G>A	c.(2614-2616)gcG>gcA	p.A872A	EPHB1_uc003equ.3_Silent_p.A433A	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	872	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.A872G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCCGGTTTGCGGAGATTGTCA	0.582													A	134967277	G	A	134967277	2	1	79	1	0	0	0	0	0	0	0	1	5174	1103	39	2		2	EPHB1	3	134967277	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	7570674	134967277	63055153	17	5186											
ZIC4	84107	broad.mit.edu	37	3	147108751	147108751	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:147108751G>A	uc011bno.2	-	3	1307	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.A254V|ZIC4_uc021xff.1_Missense_Mutation_p.A362V|ZIC4_uc003ewd.2_Missense_Mutation_p.A324V|ZIC4_uc021xfg.1_Missense_Mutation_p.A118V	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	324						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCCGCCACCGCCGCCGAGGA	0.706													A	147108751	G	A	147108751	3	1	79	1	0	0	0	0	1	0	0	0	17678	1087	38	1	41	1	ZIC4	3	147108751	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	12141474	147108751	50913679	18	5187											
GAK	2580	broad.mit.edu	37	4	864620	864620	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:864620C>T	uc003gbm.4	-	18	2326	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	GAK_uc003gbn.4_Silent_p.V630V|GAK_uc010ibk.1_Silent_p.V603V|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.V573V	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	709	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCCTGGGCTCCACCTCCACTT	0.557													T	864620	C	T	864620	2	4	79	1	0	0	0	0	0	0	0	1	6195	581	21	3		3	GAK	4	864620	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08		864620	190289656	19	5188											
ATP8A1	10396	broad.mit.edu	37	4	42505527	42505527	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:42505527G>C	uc003gwr.2	-	23	2323	c.2091C>G	c.(2089-2091)caC>caG	p.H697Q	ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Missense_Mutation_p.H682Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	697					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			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)	GTTTGCAGGAGTGTCCTGTAT	0.274													C	42505527	G	C	42505527	3	2	79	1	0	0	0	0	1	0	0	0	1192	1020	36	5	1459	5	ATP8A1	4	42505527	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	41640907	42505527	148648749	20	5189											
SLC4A4	8671	broad.mit.edu	37	4	72316924	72316924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:72316924G>A	uc010iic.3	+	10	1345	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	SLC4A4_uc003hfy.3_Missense_Mutation_p.G410R|SLC4A4_uc010iib.3_Missense_Mutation_p.G410R|SLC4A4_uc003hfz.3_Missense_Mutation_p.G410R|SLC4A4_uc003hgc.4_Missense_Mutation_p.G366R|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.G288R|SLC4A4_uc003hgb.3_Missense_Mutation_p.G366R	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	410						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GTACTCAGGTGGAGAGAATGT	0.443													A	72316924	G	A	72316924	3	1	79	1	0	0	0	0	1	0	0	0	14656	1349	47	3	1387	3	SLC4A4	4	72316924	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	29811397	72316924	118837352	21	5190											
PPEF2	5470	broad.mit.edu	37	4	76797562	76797562	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:76797562G>A	uc003hix.3	-	10	1555	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.R400W	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	400	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCGGCACCGCTCTAGCTCC	0.667													A	76797562	G	A	76797562	3	1	79	1	0	0	0	0	1	0	0	0	12308	1086	38	1	1091	1	PPEF2	4	76797562	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	4480638	76797562	114356714	22	5191											
SHROOM3	57619	broad.mit.edu	37	4	77661370	77661370	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:77661370C>T	uc011cbx.2	+	4	2997	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R506W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R557W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R460W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	682					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			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)			GGAGCTAGGCCGGGGAACCCA	0.607													T	77661370	C	T	77661370	3	4	79	1	0	0	0	0	1	0	0	0	14295	643	23	2	2062	2	SHROOM3	4	77661370	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	863808	77661370	113492906	23	5192											
FAM190A	401145	broad.mit.edu	37	4	91321221	91321221	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:91321221A>G	uc003hsv.4	+	3	1884	c.1544A>G	c.(1543-1545)gAt>gGt	p.D515G	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.D515G	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	515										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGTGAACTGGATGAAGATGAT	0.333													G	91321221	A	G	91321221	3	3	79	1	0	0	0	0	1	0	0	0	5521	333	12	4	1554	4	FAM190A	4	91321221	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	13659851	91321221	99833055	24	5193											
CTNND2	1501	broad.mit.edu	37	5	11565132	11565132	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:11565132C>T	uc003jfa.1	-	2	356	c.211G>A	c.(211-213)Gct>Act	p.A71T	CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	71					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCCGTTCAGCCTCCAGCTCT	0.502													T	11565132	C	T	11565132	3	4	79	1	0	0	0	0	1	0	0	0	4020	739	26	3	3546	3	CTNND2	5	11565132	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		11565132	169350128	25	5194											
PIK3R1	5295	broad.mit.edu	37	5	67591125	67591125	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:67591125T>C	uc003jva.3	+	12	2298	c.1718T>C	c.(1717-1719)cTg>cCg	p.L573P	PIK3R1_uc003jvc.3_Missense_Mutation_p.L273P|PIK3R1_uc003jvd.3_Missense_Mutation_p.L303P|PIK3R1_uc003jve.3_Missense_Mutation_p.L252P|PIK3R1_uc021xzn.1_Missense_Mutation_p.L210P|PIK3R1_uc011crb.2_Missense_Mutation_p.L243P	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	573					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L573P(4)|p.L570_D578del(2)|p.L303P(2)|p.L273P(2)|p.0?(1)|p.?(1)|p.L570_Q572del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTTATCCAGCTGAGAAAGACG	0.383			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			C	67591125	T	C	67591125	3	2	79	1	0	0	0	0	1	0	0	0	11918	1580	55	4	1894	4	PIK3R1	5	67591125	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	56025993	67591125	113324135	26	5195											
PRR16	51334	broad.mit.edu	37	5	120021968	120021968	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:120021968C>A	uc003ksq.3	+	1	642	c.479C>A	c.(478-480)cCa>cAa	p.P160Q	PRR16_uc003ksp.3_Missense_Mutation_p.P137Q|PRR16_uc003ksr.3_Missense_Mutation_p.P90Q	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	160	Pro-rich.							p.P137Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GGAGGCTTACCAGGTGGACCT	0.468													A	120021968	C	A	120021968	3	1	79	1	0	0	0	0	1	0	0	0	12589	594	21	5	416	5	PRR16	5	120021968	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	52430843	120021968	60893292	27	5196											
SGCD	6444	broad.mit.edu	37	5	156186311	156186311	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:156186311C>T	uc003lwc.4	+	8	1302	c.783C>T	c.(781-783)ttC>ttT	p.F261F	SGCD_uc003lwd.4_Silent_p.F260F	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	260			E -> K (in LGMD2F).		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.F261L(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGTCTTCGAGATCTGCG	0.488													T	156186311	C	T	156186311	2	4	79	1	0	0	0	0	0	0	0	1	14201	883	31	2		2	SGCD	5	156186311	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	36164343	156186311	24728949	28	5197											
ADAMTS2	9509	broad.mit.edu	37	5	178552111	178552111	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:178552111G>A	uc003mjw.3	-	18	2923	c.2821C>T	c.(2821-2823)Cgc>Tgc	p.R941C		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	941	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R941H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAATGCAGCGCACGGAGCGC	0.692													A	178552111	G	A	178552111	3	1	79	1	0	0	0	0	1	0	0	0	265	1087	38	1	830	1	ADAMTS2	5	178552111	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	22365800	178552111	2363149	29	5198											
GMDS	2762	broad.mit.edu	37	6	1930436	1930436	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:1930436G>A	uc003mtq.3	-	6	884	c.672C>T	c.(670-672)agC>agT	p.S224S	GMDS_uc021ykn.1_Silent_p.S194S	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	224					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		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)		CTACTGACCGGCTAATTTTTC	0.428													A	1930436	G	A	1930436	2	1	79	1	0	0	0	0	0	0	0	1	6486	1194	42	3		3	GMDS	6	1930436	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08		1930436	169184631	30	5199											
ZSCAN23	222696	broad.mit.edu	37	6	28402496	28402496	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:28402496G>C	uc003nli.4	-	3	1097	c.916C>G	c.(916-918)Cag>Gag	p.Q306E	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Non-coding_Transcript|ZSCAN23_uc011dli.2_3'UTR	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	306					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						ACACTGCACTGGTAGCGCTTC	0.542													C	28402496	G	C	28402496	3	2	79	1	0	0	0	0	1	0	0	0	18232	1357	47	5	257	5	ZSCAN23	6	28402496	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	26472060	28402496	142712571	31	5200											
PPP1R10	5514	broad.mit.edu	37	6	30570090	30570090	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:30570090C>T	uc003nqn.1	-	18	2888	c.2336G>A	c.(2335-2337)aGt>aAt	p.S779N	PPP1R10_uc010jsc.1_Missense_Mutation_p.S433N	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	779	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCGATGCCCACTTCCCATGCC	0.672													T	30570090	C	T	30570090	3	4	79	1	0	0	0	0	1	0	0	0	12352	565	20	3	494	3	PPP1R10	6	30570090	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	2167594	30570090	140544977	32	5201											
ATG5	9474	broad.mit.edu	37	6	106764059	106764059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:106764059G>A	uc003prf.3	-	1	378	c.25C>T	c.(25-27)Cga>Tga	p.R9*	ATG5_uc010kdb.3_Nonsense_Mutation_p.R9*|ATG5_uc003prg.3_5'UTR|ATG5_uc010kdc.3_Nonsense_Mutation_p.R9*	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.	9					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CACACATCTCGAAGCACATCT	0.368													A	106764059	G	A	106764059	4	1	79	1	0	0	0	0	0	1	0	0	1100	1066	37	2	830	2	ATG5	6	106764059	Nonsense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	76193969	106764059	64351008	33	5202											
TXLNB	167838	broad.mit.edu	37	6	139564240	139564240	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:139564240A>T	uc021zfy.1	-	9	1643	c.1478T>A	c.(1477-1479)gTt>gAt	p.V493D		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	493						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GACACTATTAACCTCCTCTGC	0.478													T	139564240	A	T	139564240	3	4	79	1	0	0	0	0	1	0	0	0	16785	43	2	5	580	5	TXLNB	6	139564240	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	32800181	139564240	31550827	34	5203											
PRPS1L1	221823	broad.mit.edu	37	7	18066565	18066565	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:18066565T>C	uc003stz.3	-	0	922	c.841A>G	c.(841-843)Atg>Gtg	p.M281V		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	281					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CAATGCTTCATCTTCTCATCT	0.438													C	18066565	T	C	18066565	3	2	79	1	0	0	0	0	1	0	0	0	12579	1435	50	4	119	4	PRPS1L1	7	18066565	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08		18066565	141072098	35	5204											
PKD1L1	168507	broad.mit.edu	37	7	47867036	47867036	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:47867036G>C	uc003tny.2	-	44	6800	c.6766C>G	c.(6766-6768)Ctg>Gtg	p.L2256V	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'UTR	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2256					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCAGCGCAGGTGGCGAGCT	0.667													C	47867036	G	C	47867036	3	2	79	1	0	0	0	0	1	0	0	0	11964	991	35	5	1835	5	PKD1L1	7	47867036	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	29800471	47867036	111271627	36	5205											
CALN1	83698	broad.mit.edu	37	7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	rs144352678	by1000genomes	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:71252855C>T	uc003twb.4	-	6	1082	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	189						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537													T	71252855	C	T	71252855	3	4	79	1	0	0	0	0	1	0	0	0	2591	536	19	1	98	1	CALN1	7	71252855	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	23385819	71252855	87885808	37	5206											
ZAN	7455	broad.mit.edu	37	7	100336230	100336230	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:100336230C>T	uc003uwj.3	+	6	925	c.760C>T	c.(760-762)Cct>Tct	p.P254S	ZAN_uc003uwk.3_Missense_Mutation_p.P254S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	254	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			CTTCTCTAGCCCTGGTAGTGA	0.577													T	100336230	C	T	100336230	3	4	79	1	0	0	0	0	1	0	0	0	17510	623	22	3	782	3	ZAN	7	100336230	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	29083375	100336230	58802433	38	5207											
OPN1SW	611	broad.mit.edu	37	7	128415497	128415497	+	Silent	SNP	T	T	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:128415497T>A	uc003vnt.4	-	0	348	c.348A>T	c.(346-348)gtA>gtT	p.V116V		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	116					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAGTACCTGCTACAGTGCCCA	0.547													A	128415497	T	A	128415497	2	1	79	1	0	0	0	0	0	0	0	1	10880	1509	53	5		5	OPN1SW	7	128415497	Silent	SNP	T	TCGA-06-2562-01A-01D-1494-08	28079267	128415497	30723166	39	5208											
TTC26	79989	broad.mit.edu	37	7	138854079	138854079	+	Silent	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:138854079A>G	uc003vus.2	+	11	1164	c.1050A>G	c.(1048-1050)ggA>ggG	p.G350G	TTC26_uc011kqn.1_Silent_p.G350G|TTC26_uc011kqo.1_Silent_p.G319G|TTC26_uc011kqp.1_Silent_p.G245G|TTC26_uc003vut.2_Silent_p.G210G|TTC26_uc011kqq.1_Silent_p.G219G	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	350							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGTTGGTGGGAGGATCAGCTA	0.368													G	138854079	A	G	138854079	2	3	79	1	0	0	0	0	0	0	0	1	16691	291	11	4		4	TTC26	7	138854079	Silent	SNP	A	TCGA-06-2562-01A-01D-1494-08	10438582	138854079	20284584	40	5209											
PIP5K1B	8395	broad.mit.edu	37	9	71606125	71606125	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:71606125C>T	uc004agu.3	+	14	1877	c.1572C>T	c.(1570-1572)aaC>aaT	p.N524N	PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	524						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTGAGCCCAACACTCTGGAAG	0.428													T	71606125	C	T	71606125	2	4	79	1	0	0	0	0	0	0	0	1	11940	477	17	3		3	PIP5K1B	9	71606125	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08		71606125	69607306	41	5210											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112694260	112694260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:112694260C>T	uc004bei.2	+	5	640	c.448C>T	c.(448-450)Cga>Tga	p.R150*	PALM2-AKAP2_uc004beg.3_Intron|PALM2-AKAP2_uc004beh.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bej.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bek.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCTCTGTTCACGAACAGCAGA	0.542													T	112694260	C	T	112694260	4	4	79	1	0	0	0	0	0	1	0	0	11410	528	19	1	470	1	PALM2-AKAP2	9	112694260	Nonsense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	41088135	112694260	28519171	42	5211											
SLC46A2	57864	broad.mit.edu	37	9	115652657	115652657	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:115652657C>T	uc004bgk.3	-	0	537	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	102						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCGGTGGTAGCGGTCGCTGAG	0.607													T	115652657	C	T	115652657	3	4	79	1	0	0	0	0	1	0	0	0	14645	768	27	1	1138	1	SLC46A2	9	115652657	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	2958397	115652657	25560774	43	5212											
SLIT1	6585	broad.mit.edu	37	10	98808848	98808848	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr10:98808848G>A	uc001kmw.2	-	13	1581	c.1329C>T	c.(1327-1329)tgC>tgT	p.C443C	SLIT1_uc009xvh.1_Silent_p.C453C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	443	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTTACAGTCGCAAATGAAAG	0.617													A	98808848	G	A	98808848	2	1	79	1	0	0	0	0	0	0	0	1	14739	1079	38	1		1	SLIT1	10	98808848	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08		98808848	36725899	44	5213											
RBMXL2	27288	broad.mit.edu	37	11	7111073	7111073	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:7111073G>A	uc001mfc.2	+	0	909	c.722G>A	c.(721-723)cGc>cAc	p.R241H		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	241	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACACCCACCGCGATTACGGC	0.662													A	7111073	G	A	7111073	3	1	79	1	0	0	0	0	1	0	0	0	13154	1087	38	1	724	1	RBMXL2	11	7111073	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08		7111073	127895443	45	5214											
ABCC8	6833	broad.mit.edu	37	11	17419338	17419338	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:17419338T>C	uc001mnc.3	-	30	3886	c.3760A>G	c.(3760-3762)Atc>Gtc	p.I1254V		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1254	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CATGCACCGATGTACTCCTGG	0.632													C	17419338	T	C	17419338	3	2	79	1	0	0	0	0	1	0	0	0	58	1464	51	4	1021	4	ABCC8	11	17419338	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	10308265	17419338	117587178	46	5215											
MS4A14	84689	broad.mit.edu	37	11	60183620	60183620	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:60183620C>T	uc001npj.3	+	4	1744	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	MS4A14_uc001npi.3_Silent_p.H281H|MS4A14_uc001npn.3_Silent_p.H131H|MS4A14_uc001npk.3_Silent_p.H376H|MS4A14_uc001npl.3_Silent_p.H131H|MS4A14_uc001npm.3_Silent_p.H131H	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	393						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						caccatcccacgccatgccac	0.448													T	60183620	C	T	60183620	2	4	79	1	0	0	0	0	0	0	0	1	9858	535	19	1		1	MS4A14	11	60183620	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	42764282	60183620	74822896	47	5216											
LRP5	4041	broad.mit.edu	37	11	68177525	68177525	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:68177525G>A	uc001ont.3	+	9	2310	c.2235G>A	c.(2233-2235)gcG>gcA	p.A745A	LRP5_uc009ysg.3_Silent_p.A155A	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	745	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGAAGTGGCGCGGCTGGACG	0.617													A	68177525	G	A	68177525	2	1	79	1	0	0	0	0	0	0	0	1	8960	1074	38	1		1	LRP5	11	68177525	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	7993905	68177525	66828991	48	5217											
CBL	867	broad.mit.edu	37	11	119148932	119148932	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:119148932T>G	uc001pwe.3	+	7	1290	c.1152T>G	c.(1150-1152)tgT>tgG	p.C384W		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	384	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_Q409del(26)|p.C384R(8)|p.C384Y(5)|p.E366_K477del(2)|p.E369_D390del(2)|p.E369_Q409del(2)|p.?(1)|p.K322_D460del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GTAAAATATGTGCTGAAAATG	0.353			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				G	119148932	T	G	119148932	3	3	79	1	0	0	0	0	1	0	0	0	2700	1702	59	5	1182	5	CBL	11	119148932	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	50971407	119148932	15857584	49	5218											
APOF	319	broad.mit.edu	37	12	56755294	56755294	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:56755294C>A	uc001sle.1	-	1	750	c.696G>T	c.(694-696)atG>atT	p.M232I		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	232					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCCCCCCTGACATCCCAGCCA	0.517													A	56755294	C	A	56755294	3	1	79	1	0	0	0	0	1	0	0	0	803	478	17	5	288	5	APOF	12	56755294	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		56755294	77096601	50	5219											
CAPS2	84698	broad.mit.edu	37	12	75678781	75678781	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:75678781A>G	uc001sxl.3	-	14	1504	c.1475T>C	c.(1474-1476)aTt>aCt	p.I492T	CAPS2_uc001sxm.3_Missense_Mutation_p.I279T|CAPS2_uc009zsa.2_Missense_Mutation_p.I101T|CAPS2_uc001sxi.4_Missense_Mutation_p.I247T|CAPS2_uc001sxj.4_Missense_Mutation_p.I422T|CAPS2_uc001sxk.4_Missense_Mutation_p.I511T	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	511	EF-hand 2.						calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CATTTCACCAATAATACCACG	0.313													G	75678781	A	G	75678781	3	3	79	1	0	0	0	0	1	0	0	0	2638	101	4	4	153	4	CAPS2	12	75678781	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	18923487	75678781	58173114	51	5220											
TDG	6996	broad.mit.edu	37	12	104378553	104378553	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:104378553T>A	uc001tkg.3	+	7	1042	c.819T>A	c.(817-819)agT>agA	p.S273R	TDG_uc009zuk.3_Missense_Mutation_p.S269R|TDG_uc010swi.2_Missense_Mutation_p.S130R|TDG_uc010swj.2_Missense_Mutation_p.S61R	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	273					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.S273I(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CATCATCCAGTGCAAGATGTG	0.338								Base excision repair (BER), DNA glycosylases					A	104378553	T	A	104378553	3	1	79	1	0	0	0	0	1	0	0	0	15722	1693	59	5	849	5	TDG	12	104378553	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	28699772	104378553	29473342	52	5221											
TMEM132D	121256	broad.mit.edu	37	12	129558525	129558525	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:129558525G>A	uc009zyl.1	-	8	3523	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	TMEM132D_uc001uia.2_Silent_p.I603I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1065						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)		TACTCATCACGATGGAGTTCC	0.517													A	129558525	G	A	129558525	2	1	79	1	0	0	0	0	0	0	0	1	16044	1048	37	2		2	TMEM132D	12	129558525	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	25179972	129558525	4293370	53	5222											
EFNB2	1948	broad.mit.edu	37	13	107187195	107187195	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr13:107187195A>C	uc001vqi.3	-	0	194	c.118T>G	c.(118-120)Tcc>Gcc	p.S40A		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	40					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ACTTACTTGGAGTTCGAGGAA	0.597													C	107187195	A	C	107187195	3	2	79	1	0	0	0	0	1	0	0	0	4956	304	11	5	903	5	EFNB2	13	107187195	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08		107187195	7982683	54	5223											
COL4A2	1284	broad.mit.edu	37	13	111134945	111134945	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr13:111134945C>T	uc001vqx.3	+	31	3130	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	947	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGCAAAGGCGAGGCTGGAT	0.527													T	111134945	C	T	111134945	2	4	79	1	0	0	0	0	0	0	0	1	3690	755	27	1		1	COL4A2	13	111134945	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	3947750	111134945	4034933	55	5224											
KLHL28	54813	broad.mit.edu	37	14	45415013	45415013	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:45415013C>A	uc001wvq.3	-	1	365	c.119G>T	c.(118-120)cGa>cTa	p.R40L	KLHL28_uc001wvr.3_Missense_Mutation_p.R40L|KLHL28_uc001wvt.4_Missense_Mutation_p.R40L	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	40	BTB.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTACTCGAAGAATGAT	0.428													A	45415013	C	A	45415013	3	1	79	1	0	0	0	0	1	0	0	0	8382	884	31	5	1612	5	KLHL28	14	45415013	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		45415013	61934527	56	5225											
DLGAP5	9787	broad.mit.edu	37	14	55650334	55650334	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:55650334C>G	uc001xbs.3	-	2	593	c.376G>C	c.(376-378)Gat>Cat	p.D126H	DLGAP5_uc001xbt.3_Missense_Mutation_p.D126H	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	126					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAGGCATATCAGGTCTATAA	0.323													G	55650334	C	G	55650334	3	3	79	1	0	0	0	0	1	0	0	0	4563	826	29	5	2327	5	DLGAP5	14	55650334	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	10235321	55650334	51699206	57	5226											
KCNK10	54207	broad.mit.edu	37	14	88654322	88654322	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:88654322T>C	uc001xwm.3	-	5	1122	c.1000A>G	c.(1000-1002)Aca>Gca	p.T334A	KCNK10_uc001xwn.3_Missense_Mutation_p.T334A|KCNK10_uc001xwo.3_Missense_Mutation_p.T329A	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	329					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTTCTTTTGTCTTTTTGGAC	0.493													C	88654322	T	C	88654322	3	2	79	1	0	0	0	0	1	0	0	0	8059	1667	58	4	639	4	KCNK10	14	88654322	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	33003988	88654322	18695218	58	5227											
C15orf52	388115	broad.mit.edu	37	15	40629935	40629935	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:40629935C>T	uc001zlh.4	-	5	821	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	C15orf52_uc001zli.1_Missense_Mutation_p.A201T|C15orf52_uc010ucn.2_Missense_Mutation_p.A59T	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	269										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTGGACTTGGCCTTGTCCAGG	0.701													T	40629935	C	T	40629935	3	4	79	1	0	0	0	0	1	0	0	0	1800	739	26	3	823	3	C15orf52	15	40629935	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		40629935	61901457	59	5228											
CYP11A1	1583	broad.mit.edu	37	15	74636252	74636252	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:74636252G>A	uc002axt.2	-	3	862	c.707C>T	c.(706-708)gCc>gTc	p.A236V	CYP11A1_uc002axs.2_Missense_Mutation_p.A78V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A78V|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Missense_Mutation_p.A16V	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	236					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTGGTAGATGGCATCAATGAA	0.572													A	74636252	G	A	74636252	3	1	79	1	0	0	0	0	1	0	0	0	4144	1203	42	3	882	3	CYP11A1	15	74636252	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	34006317	74636252	27895140	60	5229											
HAPLN3	145864	broad.mit.edu	37	15	89421300	89421300	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:89421300C>T	uc002bnd.3	-	5	1251	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	HAPLN3_uc002bnc.3_Silent_p.P328P|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	328					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGTTAGGATGCGGGTGAACCA	0.642													T	89421300	C	T	89421300	2	4	79	1	0	0	0	0	0	0	0	1	6956	755	27	1		1	HAPLN3	15	89421300	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	14785048	89421300	13110092	61	5230											
CASKIN1	57524	broad.mit.edu	37	16	2231462	2231462	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:2231462G>A	uc010bsg.1	-	17	1939	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	636					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGGCTCAGGCGGGGGCGGCGA	0.657													A	2231462	G	A	2231462	3	1	79	1	0	0	0	0	1	0	0	0	2666	1116	39	2	2400	2	CASKIN1	16	2231462	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08		2231462	88123291	62	5231											
DNAH3	55567	broad.mit.edu	37	16	21080807	21080807	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:21080807C>T	uc010vbe.2	-	22	3310	c.3310G>A	c.(3310-3312)Gcc>Acc	p.A1104T		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1104	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCATCTGGGCTATGATGTCC	0.428													T	21080807	C	T	21080807	3	4	79	1	0	0	0	0	1	0	0	0	4603	797	28	3	9199	3	DNAH3	16	21080807	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	18849345	21080807	69273946	63	5232											
ITGAX	3687	broad.mit.edu	37	16	31382999	31382999	+	Missense_Mutation	SNP	G	G	A	rs146647978	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:31382999G>A	uc002ebt.3	+	16	2121	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	ITGAX_uc002ebu.1_Missense_Mutation_p.R685H	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	685					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.R685H(4)|p.R685C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACCCTGGCCGCCTGAGTCCC	0.607													A	31382999	G	A	31382999	3	1	79	1	0	0	0	0	1	0	0	0	7889	1087	38	1	2120	1	ITGAX	16	31382999	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	10302192	31382999	58971754	64	5233											
PDP2	57546	broad.mit.edu	37	16	66918530	66918530	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:66918530G>A	uc021tjw.1	+	0	343	c.343G>A	c.(343-345)Gct>Act	p.A115T	PDP2_uc002eqk.2_Missense_Mutation_p.A115T	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	115					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAACCAGCTGGCTGCCAATTC	0.522													A	66918530	G	A	66918530	3	1	79	1	0	0	0	0	1	0	0	0	11686	1203	42	3	345	3	PDP2	16	66918530	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	35535531	66918530	23436223	65	5234											
NF1	4763	broad.mit.edu	37	17	29541476	29541476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:29541476delC	uc002hgg.3	+	12	1783	c.1400delC	c.(1399-1401)acafs	p.T467fs	NF1_uc002hge.2_Frame_Shift_Del_p.T467fs|NF1_uc002hgf.2_Frame_Shift_Del_p.T467fs|NF1_uc002hgh.3_Frame_Shift_Del_p.T467fs|NF1_uc010csn.2_Frame_Shift_Del_p.T327fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	467					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAGTCTTACATTTAAAGAA	0.289			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29541476	C	-	29541476	7	5	79	1	0	1	0	1	0	0	0	0	10356	478	17	0	1450	0	NF1	17	29541476	Frame_Shift_Del	DEL	C	TCGA-06-2562-01A-01D-1494-08		29541476	51653734	66	5235											
NF1	4763	broad.mit.edu	37	17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:29652976_29652979delTCTC	uc002hgg.3	+	36	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.F1658fs	NF1_uc002hgh.3_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1658	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29652979	TCTC	-	29652976	7	5	79	1	0	1	0	1	0	0	0	0	10356	1780	62	0	5181	0	NF1	17	29652976	Frame_Shift_Del	DEL	TCTC	TCGA-06-2562-01A-01D-1494-08	111500	29652976	51542234	67	5236											
RNF43	54894	broad.mit.edu	37	17	56435337	56435337	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:56435337T>G	uc002iwf.3	-	7	3756	c.1800A>C	c.(1798-1800)agA>agC	p.R600S	RNF43_uc010wnv.2_Missense_Mutation_p.R559S|RNF43_uc002iwh.4_Missense_Mutation_p.R600S|RNF43_uc002iwg.4_Missense_Mutation_p.R600S|RNF43_uc010dcw.3_Missense_Mutation_p.R473S	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	600	Pro-rich.			R -> G (in Ref. 1; BAD51435 and 2; BAA91085).		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGAGTTGGATCTGGTGACTT	0.657													G	56435337	T	G	56435337	3	3	79	1	0	0	0	0	1	0	0	0	13495	1432	50	5	559	5	RNF43	17	56435337	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	26782361	56435337	24759873	68	5237											
RGS9	8787	broad.mit.edu	37	17	63173876	63173876	+	Silent	SNP	C	C	T	rs61739619		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:63173876C>T	uc002jfe.3	+	8	812	c.609C>T	c.(607-609)taC>taT	p.Y203Y	RGS9_uc021ubw.1_Silent_p.Y203Y|RGS9_uc010dem.3_Silent_p.Y203Y|RGS9_uc002jfd.3_Silent_p.Y203Y	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	203					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGCTGGACTACGGCCTGGACC	0.488													T	63173876	C	T	63173876	2	4	79	1	0	0	0	0	0	0	0	1	13313	547	19	1		1	RGS9	17	63173876	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	6738539	63173876	18021334	69	5238											
CDH7	1005	broad.mit.edu	37	18	63489429	63489429	+	Silent	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr18:63489429A>G	uc002lkb.3	+	4	1164	c.738A>G	c.(736-738)acA>acG	p.T246T	CDH7_uc002ljz.3_Silent_p.T246T|CDH7_uc002lka.3_Silent_p.T246T	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	246	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGGAACTACATCAGTCACTG	0.433													G	63489429	A	G	63489429	2	3	79	1	0	0	0	0	0	0	0	1	3115	204	8	4		4	CDH7	18	63489429	Silent	SNP	A	TCGA-06-2562-01A-01D-1494-08		63489429	14587819	70	5239											
ZNF407	55628	broad.mit.edu	37	18	72775604	72775604	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr18:72775604C>T	uc002llw.2	+	7	5980	c.5927C>T	c.(5926-5928)tCg>tTg	p.S1976L		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1976					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TTAAACCTCTCGGAGGCTGGA	0.617													T	72775604	C	T	72775604	3	4	79	1	0	0	0	0	1	0	0	0	17884	893	31	2	6087	2	ZNF407	18	72775604	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	9286175	72775604	5301644	71	5240											
ZNF77	58492	broad.mit.edu	37	19	2933851	2933851	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:2933851A>G	uc002lws.4	-	3	1405	c.1274T>C	c.(1273-1275)aTc>aCc	p.I425T		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACGTGGATTCGAAGGGA	0.502													G	2933851	A	G	2933851	3	3	79	1	0	0	0	0	1	0	0	0	18139	333	12	4	367	4	ZNF77	19	2933851	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08		2933851	56195132	72	5241											
MAG	4099	broad.mit.edu	37	19	35804318	35804318	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:35804318G>A	uc002nyy.2	+	10	2040	c.1842G>A	c.(1840-1842)acG>acA	p.T614T	MAG_uc002nyx.2_3'UTR|MAG_uc010eds.2_Silent_p.T589T|MAG_uc002nyz.2_Silent_p.T614T	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	614				T -> S (in Ref. 2).	blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACACGCTGACGGAGGAGCTAG	0.657													A	35804318	G	A	35804318	2	1	79	1	0	0	0	0	0	0	0	1	9162	1103	39	2		2	MAG	19	35804318	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	32870467	35804318	23324665	73	5242											
IL4I1	259307	broad.mit.edu	37	19	50392981	50392981	+	Silent	SNP	T	T	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:50392981T>G	uc002pqv.2	-	10	2506	c.1677A>C	c.(1675-1677)ccA>ccC	p.P559P	IL4I1_uc002pqt.1_Silent_p.P550P|IL4I1_uc021uxy.1_Silent_p.P572P|IL4I1_uc002pqu.2_Silent_p.P572P|IL4I1_uc010eno.2_Silent_p.P558P	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	550						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GGCCTTGGACTGGAGGGTGGC	0.602													G	50392981	T	G	50392981	2	3	79	1	0	0	0	0	0	0	0	1	7697	1567	55	5		5	IL4I1	19	50392981	Silent	SNP	T	TCGA-06-2562-01A-01D-1494-08	14588663	50392981	8736002	74	5243											
PLCB1	23236	broad.mit.edu	37	20	8628555	8628559	+	Frame_Shift_Del	DEL	AACTT	AACTT	-			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:8628555_8628559delAACTT	uc002wnb.3	+	5	476_480	c.473_477delAACTT	c.(472-477)aaacttfs	p.K158fs	PLCB1_uc010zrb.1_Frame_Shift_Del_p.K57fs|PLCB1_uc010gbv.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wmz.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wna.3_Frame_Shift_Del_p.K158fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K57fs	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	158					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						AGCTATACTAAACTTAAGCTGCAAG	0.332													-	8628559	AACTT	-	8628555	7	5	79	1	0	1	0	1	0	0	0	0	12027	14	1	0	495	0	PLCB1	20	8628555	Frame_Shift_Del	DEL	AACTT	TCGA-06-2562-01A-01D-1494-08		8628555	54396965	75	5244											
SSTR4	6754	broad.mit.edu	37	20	23016341	23016341	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:23016341G>A	uc002wsr.2	+	0	285	c.221G>A	c.(220-222)cGc>cAc	p.R74H		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	74					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)					GTGATCCTTCGCTACGCCAAG	0.642													A	23016341	G	A	23016341	3	1	79	1	0	0	0	0	1	0	0	0	15199	1087	38	1	223	1	SSTR4	20	23016341	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	14387786	23016341	40009179	76	5245											
EIF2S2	8894	broad.mit.edu	37	20	32677582	32677582	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:32677582T>C	uc002xaf.3	-	8	1125	c.956A>G	c.(955-957)cAg>cGg	p.Q319R		NM_003908	NP_003899	P20042	IF2B_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.	319						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	p.F318L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CGTGACAGCCTGGAAGCCGGT	0.483													C	32677582	T	C	32677582	3	2	79	1	0	0	0	0	1	0	0	0	5010	1580	55	4	49	4	EIF2S2	20	32677582	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	9661241	32677582	30347938	77	5246											
SLC12A5	57468	broad.mit.edu	37	20	44673744	44673744	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:44673744G>A	uc010zxl.1	+	11	1679	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.A512T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	535					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			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)	CCTGCTGCAGGCCATCTCGAG	0.632													A	44673744	G	A	44673744	3	1	79	1	0	0	0	0	1	0	0	0	14386	1203	42	3	1705	3	SLC12A5	20	44673744	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	11996162	44673744	18351776	78	5247											
TUBB1	81027	broad.mit.edu	37	20	57599544	57599544	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:57599544C>T	uc002yak.3	+	3	1331	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	354					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGGCTGTCTGCGACATCCCGC	0.567													T	57599544	C	T	57599544	2	4	79	1	0	0	0	0	0	0	0	1	16750	776	27	1		1	TUBB1	20	57599544	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	12925800	57599544	5425976	79	5248											
DGCR8	54487	broad.mit.edu	37	22	20074008	20074008	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr22:20074008A>G	uc002zri.3	+	1	951	c.522A>G	c.(520-522)atA>atG	p.I174M	DGCR8_uc010grz.3_Missense_Mutation_p.I174M|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	174	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		I -> V (in dbSNP:rs35987994).		primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGGTAGGCATAGGGGGTGAGA	0.552													G	20074008	A	G	20074008	3	3	79	1	0	0	0	0	1	0	0	0	4464	410	15	4	524	4	DGCR8	22	20074008	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08		20074008	31230558	80	5249											
LZTR1	8216	broad.mit.edu	37	22	21340179	21340179	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr22:21340179T>C	uc002zto.3	+	2	416	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	LZTR1_uc002ztn.3_Missense_Mutation_p.W64R|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	105					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.W105L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGACTGCTCCTGGTGCAGGTG	0.582													C	21340179	T	C	21340179	3	2	79	1	0	0	0	0	1	0	0	0	9137	1580	55	4	323	4	LZTR1	22	21340179	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	1266171	21340179	29964387	81	5250											
EDA	1896	broad.mit.edu	37	X	69253319	69253319	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chrX:69253319C>T	uc004dxs.3	+	6	1107	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	EDA_uc011mpj.2_Missense_Mutation_p.R286C|EDA_uc004dxr.3_Missense_Mutation_p.R289C	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	289					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCTACATCCCCGCAGCGGGGA	0.498											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	69253319	C	T	69253319	3	4	79	1	0	0	0	0	1	0	0	0	4903	652	23	2	1027	2	EDA	23	69253319	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		69253319	86017241	82	5251											
MCF2	4168	broad.mit.edu	37	X	138679647	138679647	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chrX:138679647A>G	uc011mwn.1	-	20	2468	c.2462T>C	c.(2461-2463)aTg>aCg	p.M821T	MCF2_uc004fav.3_Missense_Mutation_p.M692T|MCF2_uc004fau.3_Missense_Mutation_p.M676T|MCF2_uc010nsh.2_Missense_Mutation_p.M676T|MCF2_uc011mwm.2_Missense_Mutation_p.M637T|MCF2_uc011mwl.2_Missense_Mutation_p.M653T|MCF2_uc011mwo.1_Missense_Mutation_p.M752T|MCF2_uc004faw.2_Missense_Mutation_p.M736T|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	676					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AATCTGATGCATAGAATCATT	0.388													G	138679647	A	G	138679647	3	3	79	1	0	0	0	0	1	0	0	0	9378	217	8	4	810	4	MCF2	23	138679647	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	69426328	138679647	16590913	83	5252											
PLCH2	9651	broad.mit.edu	37	1	2411404	2411404	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:2411404G>A	uc001aji.1	+	2	777	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	168					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCGCCAGCGCACCAGGGAC	0.687													A	2411404	G	A	2411404	3	1	80	1	0	0	0	0	1	0	0	0	12038	1087	38	1	513	1	PLCH2	1	2411404	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		2411404	246839217	1	5253											
NCDN	23154	broad.mit.edu	37	1	36028235	36028235	+	Splice_Site	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:36028235G>A	uc001bza.3	+	5	1512	c.1385_splice	c.e5+1	p.R462_splice	NCDN_uc001bzb.3_Splice_Site_p.R462_splice|NCDN_uc001bzc.3_Splice_Site_p.R445_splice	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	462					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACGCTCTCCGGTGAGTCTGTA	0.597													A	36028235	G	A	36028235	5	1	80	1	0	0	0	0	0	0	1	0	10214	1275	44	3	1400	3	NCDN	1	36028235	Splice_Site	SNP	G	TCGA-06-2563-01A-01D-1494-08	33616831	36028235	213222386	2	5254											
KIAA0754	643314	broad.mit.edu	37	1	39876294	39876294	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:39876294G>A	uc009vvt.1	+	0	1119	c.357G>A	c.(355-357)cgG>cgA	p.R119R	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	0										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAAGGCGGCCAAATGCAG	0.478													A	39876294	G	A	39876294	2	1	80	1	0	0	0	0	0	0	0	1	8192	1190	42	3		3	KIAA0754	1	39876294	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	3848059	39876294	209374327	3	5255											
C1orf173	127254	broad.mit.edu	37	1	75108729	75108729	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:75108729C>A	uc001dgg.3	-	3	516	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	99								p.K98K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGGATTCGCTCCTTCCTAG	0.323													A	75108729	C	A	75108729	3	1	80	1	0	0	0	0	1	0	0	0	2014	796	28	5	4339	5	C1orf173	1	75108729	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	35232435	75108729	174141892	4	5256											
ZZZ3	26009	broad.mit.edu	37	1	78098001	78098001	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:78098001G>A	uc001dhq.3	-	4	1515	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P347S|ZZZ3_uc001dhp.3_Missense_Mutation_p.P347S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P347S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCGGAGGCTGGCATACTCTCA	0.443													A	78098001	G	A	78098001	3	1	80	1	0	0	0	0	1	0	0	0	18253	1203	42	3	1716	3	ZZZ3	1	78098001	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	2989272	78098001	171152620	5	5257											
ANKRD35	148741	broad.mit.edu	37	1	145558841	145558841	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:145558841C>T	uc001eob.1	+	6	568	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ANKRD35_uc010oyx.1_5'UTR	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	154								p.R154C(2)|p.G153G(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)					GCAGGATGGACGTACACCCCT	0.557													T	145558841	C	T	145558841	3	4	80	1	0	0	0	0	1	0	0	0	664	536	19	1	486	1	ANKRD35	1	145558841	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	67460840	145558841	103691780	6	5258											
SPRR1A	6698	broad.mit.edu	37	1	152957774	152957774	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:152957774A>T	uc021ozn.1	+	0	68	c.68A>T	c.(67-69)cAa>cTa	p.Q23L	SPRR1A_uc009wnu.2_Missense_Mutation_p.Q23L|SPRR1A_uc001faw.3_Missense_Mutation_p.Q23L	NM_005987	NP_005978	P35321	SPR1A_HUMAN	Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA.	23	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGTGAAACAACCTTGCCAG	0.572													T	152957774	A	T	152957774	3	4	80	1	0	0	0	0	1	0	0	0	15094	130	5	5	70	5	SPRR1A	1	152957774	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	7398933	152957774	96292847	7	5259											
C1orf116	79098	broad.mit.edu	37	1	207195575	207195575	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:207195575C>T	uc001hfd.2	-	3	1793	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S	C1orf116_uc009xcb.1_Missense_Mutation_p.G266S|C1orf116_uc021pii.1_Missense_Mutation_p.G266S	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	512						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGAAGGAGCCCTTTCCCAGA	0.567													T	207195575	C	T	207195575	3	4	80	1	0	0	0	0	1	0	0	0	1989	623	22	3	275	3	C1orf116	1	207195575	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	54237801	207195575	42055046	8	5260											
HIST3H3	8290	broad.mit.edu	37	1	228612678	228612678	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:228612678G>A	uc001hsx.1	-	0	349	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W		NM_003493	NP_003484	Q16695	H31T_HUMAN	Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.	117					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				ATGGTGACCCGTTTGGCATGG	0.627													A	228612678	G	A	228612678	3	1	80	1	0	0	0	0	1	0	0	0	7184	1144	40	1	65	1	HIST3H3	1	228612678	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	21417103	228612678	20637943	9	5261											
HIST3H2A	92815	broad.mit.edu	37	1	228645127	228645127	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:228645127C>T	uc001hsy.3	-	0	434	c.392G>A	c.(391-393)tGa>tAa	p.*131*	HIST3H2BB_uc001hsz.3_5'Flank	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN	Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA.	0					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				cgggcggccTCACTTGCCCTT	0.627													T	228645127	C	T	228645127	2	4	80	1	0	0	0	0	0	0	0	1	7182	837	29	3		3	HIST3H2A	1	228645127	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	32449	228645127	20605494	10	5262											
OR2C3	81472	broad.mit.edu	37	1	247695195	247695195	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:247695195A>G	uc021pmb.1	-	0	619	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.F207L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			AGGACAACAAAGACAAAGCTG	0.532													G	247695195	A	G	247695195	3	3	80	1	0	0	0	0	1	0	0	0	10993	72	3	4	347	4	OR2C3	1	247695195	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	19050068	247695195	1555426	11	5263											
RNF181	51255	broad.mit.edu	37	2	85824255	85824255	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:85824255A>G	uc002spv.1	+	3	406	c.356A>G	c.(355-357)gAg>gGg	p.E119G		NM_016494	NP_057578	Q9P0P0	RN181_HUMAN	Homo sapiens ring finger protein 181 (RNF181), mRNA.	119							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						TGCCGCTATGAGCTGCCCACT	0.522													G	85824255	A	G	85824255	3	3	80	1	0	0	0	0	1	0	0	0	13465	304	11	4	370	4	RNF181	2	85824255	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08		85824255	157375118	12	5264											
ANAPC1	64682	broad.mit.edu	37	2	112608407	112608407	+	Silent	SNP	T	T	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:112608407T>A	uc002thi.3	-	13	1843	c.1596A>T	c.(1594-1596)ctA>ctT	p.L532L		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	532					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAACGCCATCTAGTGGAGTAC	0.433													A	112608407	T	A	112608407	2	1	80	1	0	0	0	0	0	0	0	1	598	1509	53	5		5	ANAPC1	2	112608407	Silent	SNP	T	TCGA-06-2563-01A-01D-1494-08	26784152	112608407	130590966	13	5265											
TRIP12	9320	broad.mit.edu	37	2	230663714	230663714	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663714A>C	uc002vpx.1	-	22	3387	c.3278T>G	c.(3277-3279)tTg>tGg	p.L1093W	TRIP12_uc021vxw.1_Missense_Mutation_p.L1078W|TRIP12_uc002vpy.1_Missense_Mutation_p.L775W|TRIP12_uc002vpw.1_Missense_Mutation_p.L1045W|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1045					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		TTTTGGATTCAAGCTTGCCAG	0.448													C	230663714	A	C	230663714	3	2	80	1	0	0	0	0	1	0	0	0	16553	131	5	5	2924	5	TRIP12	2	230663714	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	118055307	230663714	12535659	14	5266			1	16		3	3	50	N	T_A	9.719341e-09
TRIP12	9320	broad.mit.edu	37	2	230663734	230663734	+	Silent	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663734T>C	uc002vpx.1	-	22	3367	c.3258A>G	c.(3256-3258)aaA>aaG	p.K1086K	TRIP12_uc021vxw.1_Silent_p.K1071K|TRIP12_uc002vpy.1_Silent_p.K768K|TRIP12_uc002vpw.1_Silent_p.K1038K|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1038					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		GGAAAGAAGATTTAGGTGACT	0.398													C	230663734	T	C	230663734	2	2	80	1	0	0	0	0	0	0	0	1	16553	1490	52	4		4	TRIP12	2	230663734	Silent	SNP	T	TCGA-06-2563-01A-01D-1494-08	20	230663734	12535639	15	5267			1	16		3	3	50	N	T_A	9.719341e-09
TRIP12	9320	broad.mit.edu	37	2	230663763	230663763	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663763T>C	uc002vpx.1	-	22	3338	c.3229A>G	c.(3229-3231)Aaa>Gaa	p.K1077E	TRIP12_uc021vxw.1_Missense_Mutation_p.K1062E|TRIP12_uc002vpy.1_Missense_Mutation_p.K759E|TRIP12_uc002vpw.1_Missense_Mutation_p.K1029E|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1029					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		GTGGGGCTTTTAGCTATGAAA	0.343													C	230663763	T	C	230663763	3	2	80	1	0	0	0	0	1	0	0	0	16553	1763	61	4	2973	4	TRIP12	2	230663763	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	29	230663763	12535610	16	5268			1	16		3	3	50	N	T_A	9.719341e-09
GRIP2	80852	broad.mit.edu	37	3	14558595	14558595	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr3:14558595C>T	uc021wtn.1	-	12	1571	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	428	PDZ 4.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTCCCTTCTTCGCTGCCTCCT	0.572													T	14558595	C	T	14558595	3	4	80	1	0	0	0	0	1	0	0	0	6788	884	31	2	1903	2	GRIP2	3	14558595	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		14558595	183463835	17	5269											
TLR9	54106	broad.mit.edu	37	3	52255367	52255367	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr3:52255367G>T	uc003ddb.3	-	4	3466	c.3256C>A	c.(3256-3258)Cgc>Agc	p.R1086S	TLR9_uc003dda.2_Missense_Mutation_p.R989S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	989					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ACACTCTGGCGGCAGAGGCGC	0.687													T	52255367	G	T	52255367	3	4	80	1	0	0	0	0	1	0	0	0	15955	1116	39	5	137	5	TLR9	3	52255367	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	37696772	52255367	145767063	18	5270											
TNIP3	79931	broad.mit.edu	37	4	122075742	122075742	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr4:122075742C>G	uc021xrj.1	-	7	766	c.687G>C	c.(685-687)aaG>aaC	p.K229N	TNIP3_uc010ing.3_Missense_Mutation_p.K152N|TNIP3_uc011cgj.2_Missense_Mutation_p.K222N|TNIP3_uc010ini.3_Missense_Mutation_p.K152N	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	152										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGTAATGTTCCTTTTCCTTGT	0.343													G	122075742	C	G	122075742	3	3	80	1	0	0	0	0	1	0	0	0	16313	680	24	5	549	5	TNIP3	4	122075742	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		122075742	69078534	19	5271											
BRD9	65980	broad.mit.edu	37	5	865623	865623	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:865623G>C	uc003jbq.3	-	14	1766	c.1599C>G	c.(1597-1599)gaC>gaG	p.D533E	BRD9_uc003jbl.3_Missense_Mutation_p.D417E|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.D480E|BRD9_uc003jbo.3_Missense_Mutation_p.D437E	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	533							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CTTCGTGCAGGTCCTGCAGGA	0.617													C	865623	G	C	865623	3	2	80	1	0	0	0	0	1	0	0	0	1507	1252	44	5	202	5	BRD9	5	865623	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		865623	180049637	20	5272											
MARVELD2	153562	broad.mit.edu	37	5	68728420	68728420	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:68728420G>A	uc003jwq.3	+	3	1323	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	MARVELD2_uc010ixf.3_Missense_Mutation_p.A405T|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	417					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACTGAGAACAGCAAAAATGAA	0.448													A	68728420	G	A	68728420	3	1	80	1	0	0	0	0	1	0	0	0	9318	971	34	3	1259	3	MARVELD2	5	68728420	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	67862797	68728420	112186840	21	5273											
SLCO6A1	133482	broad.mit.edu	37	5	101816005	101816005	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:101816005G>T	uc003knn.3	-	1	664	c.492C>A	c.(490-492)ttC>ttA	p.F164L	SLCO6A1_uc003kno.3_Missense_Mutation_p.F164L|SLCO6A1_uc003knp.3_Missense_Mutation_p.F164L|SLCO6A1_uc003knq.3_Missense_Mutation_p.F164L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	164						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTCTCCATAGAATGCTATAA	0.338													T	101816005	G	T	101816005	3	4	80	1	0	0	0	0	1	0	0	0	14732	933	33	5	1715	5	SLCO6A1	5	101816005	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	33087585	101816005	79099255	22	5274											
CHSY3	337876	broad.mit.edu	37	5	129519964	129519964	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:129519964G>A	uc003kvd.3	+	2	1129	c.1129G>A	c.(1129-1131)Ggt>Agt	p.G377S		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	377						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAATCGGAAGGGTTACATCCA	0.338													A	129519964	G	A	129519964	3	1	80	1	0	0	0	0	1	0	0	0	3413	1232	43	3	1139	3	CHSY3	5	129519964	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	27703959	129519964	51395296	23	5275											
FBXO38	81545	broad.mit.edu	37	5	147784293	147784293	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:147784293T>G	uc003lpf.1	+	5	758	c.638T>G	c.(637-639)cTt>cGt	p.L213R	FBXO38_uc003lpg.1_Missense_Mutation_p.L213R|FBXO38_uc003lph.2_Missense_Mutation_p.L213R	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	213						cytoplasm|nucleus			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)			CTAAGGCACCTTTATATGAAG	0.348													G	147784293	T	G	147784293	3	3	80	1	0	0	0	0	1	0	0	0	5746	1609	56	5	656	5	FBXO38	5	147784293	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	18264329	147784293	33130967	24	5276											
SLIT3	6586	broad.mit.edu	37	5	168212916	168212916	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:168212916G>A	uc010jjg.3	-	11	1567	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SLIT3_uc003mab.3_Silent_p.L383L|SLIT3_uc010jji.2_Silent_p.L383L|SLIT3_uc003mac.1_Silent_p.L180L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	383					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			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)			ACTCACAGCAGCTGTAGGGAC	0.493													A	168212916	G	A	168212916	2	1	80	1	0	0	0	0	0	0	0	1	14741	962	34	3		3	SLIT3	5	168212916	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	20428623	168212916	12702344	25	5277											
NSD1	64324	broad.mit.edu	37	5	176638305	176638305	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:176638305G>A	uc003mfr.4	+	4	3043	c.2905G>A	c.(2905-2907)Gga>Aga	p.G969R	NSD1_uc003mft.4_Missense_Mutation_p.G700R|NSD1_uc003mfs.1_Missense_Mutation_p.G866R|NSD1_uc011dfx.2_Missense_Mutation_p.G617R	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	969					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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;0.198)	Kidney(146;0.235)		AGAGAAAAAGGGAGATGGCAC	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			A	176638305	G	A	176638305	3	1	80	1	0	0	0	0	1	0	0	0	10669	1233	43	3	2919	3	NSD1	5	176638305	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	8425389	176638305	4276955	26	5278											
PNPLA1	285848	broad.mit.edu	37	6	36259268	36259268	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:36259268G>A	uc010jwf.2	+	1	377	c.377G>A	c.(376-378)cGc>cAc	p.R126H	PNPLA1_uc010jwe.1_Missense_Mutation_p.R31H|PNPLA1_uc003olw.1_Missense_Mutation_p.R31H	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	126	Patatin.				lipid catabolic process		hydrolase activity	p.R31H(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCTCACCCGCTTAACGGAC	0.602													A	36259268	G	A	36259268	3	1	80	1	0	0	0	0	1	0	0	0	12164	1087	38	1	383	1	PNPLA1	6	36259268	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		36259268	134855799	27	5279											
PRICKLE4	29964	broad.mit.edu	37	6	41753983	41753983	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:41753983A>G	uc011duf.1	+	6	948	c.700A>G	c.(700-702)Agc>Ggc	p.S234G	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	194						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCTGGGGGAAGCCCCTGCTG	0.672													G	41753983	A	G	41753983	3	3	80	1	0	0	0	0	1	0	0	0	12489	72	3	4	718	4	PRICKLE4	6	41753983	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	5494715	41753983	129361084	28	5280											
TIAM2	26230	broad.mit.edu	37	6	155572049	155572049	+	Silent	SNP	A	A	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:155572049A>C	uc003qqb.3	+	23	5227	c.3954A>C	c.(3952-3954)gtA>gtC	p.V1318V	TIAM2_uc003qqe.3_Silent_p.V1318V|TIAM2_uc010kjj.3_Silent_p.V880V|TIAM2_uc003qqf.3_Silent_p.V694V|TIAM2_uc011efl.1_Silent_p.V654V|TIAM2_uc003qqg.3_Silent_p.V630V|TIAM2_uc003qqh.3_Silent_p.V243V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1318					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.E1317A(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAATCTAGGTAACAGAACTTT	0.423													C	155572049	A	C	155572049	2	2	80	1	0	0	0	0	0	0	0	1	15888	349	13	5		5	TIAM2	6	155572049	Silent	SNP	A	TCGA-06-2563-01A-01D-1494-08	113818066	155572049	15543018	29	5281											
HECW1	23072	broad.mit.edu	37	7	43485067	43485067	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:43485067G>A	uc003tid.1	+	10	2901	c.2296G>A	c.(2296-2298)Gct>Act	p.A766T	HECW1_uc011kbi.1_Missense_Mutation_p.A766T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	766					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACGAACGGCGCTGGGCCGTG	0.652													A	43485067	G	A	43485067	3	1	80	1	0	0	0	0	1	0	0	0	7042	1087	38	1	2330	1	HECW1	7	43485067	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		43485067	115653596	30	5282											
ZPBP	11055	broad.mit.edu	37	7	50121433	50121433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:50121433G>A	uc003tou.3	-	2	341	c.271C>T	c.(271-273)Cga>Tga	p.R91*	ZPBP_uc010kyw.3_Nonsense_Mutation_p.R91*	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	91					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCAGCATTTCGCAGTTGTTGC	0.338													A	50121433	G	A	50121433	4	1	80	1	0	0	0	0	0	1	0	0	18216	1095	38	1	808	1	ZPBP	7	50121433	Nonsense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	6636366	50121433	109017230	31	5283											
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:55221710C>T	uc003tqk.3	+	6	1000	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221710	C	T	55221710	3	4	80	1	0	0	0	0	1	0	0	0	4967	652	23	2	780	2	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	5100277	55221710	103916953	32	5284											
CCDC146	57639	broad.mit.edu	37	7	76922321	76922321	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:76922321T>C	uc003uga.3	+	17	2595	c.2468T>C	c.(2467-2469)cTt>cCt	p.L823P	CCDC146_uc010ldp.3_Missense_Mutation_p.L537P|CCDC146_uc003ugc.3_Missense_Mutation_p.L160P	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	823										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATGATGGCTCTTGTTGCTGAG	0.398													C	76922321	T	C	76922321	3	2	80	1	0	0	0	0	1	0	0	0	2780	1609	56	4	2534	4	CCDC146	7	76922321	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	21700611	76922321	82216342	33	5285											
PCLO	27445	broad.mit.edu	37	7	82387898	82387898	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:82387898G>A	uc003uhx.2	-	24	15711	c.15422C>T	c.(15421-15423)aCg>aTg	p.T5141M		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	5064					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						TCTTCAATGCGTTTGAGTAGG	0.378													A	82387898	G	A	82387898	3	1	80	1	0	0	0	0	1	0	0	0	11583	1145	40	1	10	1	PCLO	7	82387898	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	5465577	82387898	76750765	34	5286											
SLC26A3	1811	broad.mit.edu	37	7	107427951	107427951	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:107427951G>C	uc003ver.2	-	6	950	c.739C>G	c.(739-741)Cta>Gta	p.L247V	SLC26A3_uc003ves.2_Missense_Mutation_p.L212V	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	247					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACAGAGTATAGTACCTACAAT	0.323													C	107427951	G	C	107427951	3	2	80	1	0	0	0	0	1	0	0	0	14518	1020	36	5	1615	5	SLC26A3	7	107427951	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	25040053	107427951	51710712	35	5287											
KEL	3792	broad.mit.edu	37	7	142649696	142649696	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:142649696C>A	uc003wcb.3	-	9	1313	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	368					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)					CACCACCAGCCCTAAGATCAT	0.537													A	142649696	C	A	142649696	3	1	80	1	0	0	0	0	1	0	0	0	8142	623	22	5	1135	5	KEL	7	142649696	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	35221745	142649696	16488967	36	5288											
KCNH2	3757	broad.mit.edu	37	7	150649545	150649545	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:150649545C>T	uc003wic.3	-	5	1926	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	KCNH2_uc003wib.3_Missense_Mutation_p.D169N|KCNH2_uc011kux.2_Missense_Mutation_p.D413N|KCNH2_uc003wid.3_Missense_Mutation_p.D169N|KCNH2_uc003wie.3_Missense_Mutation_p.D509N	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	509					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ATGAGCAGGTCGAAGGGGATG	0.632													T	150649545	C	T	150649545	3	4	80	1	0	0	0	0	1	0	0	0	8032	884	31	2	2263	2	KCNH2	7	150649545	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	7999849	150649545	8489118	37	5289											
CYP7B1	9420	broad.mit.edu	37	8	65517309	65517309	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:65517309C>T	uc003xvj.2	-	4	1367	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	388					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTCTCCCTTTCGCACACAGTA	0.453													T	65517309	C	T	65517309	3	4	80	1	0	0	0	0	1	0	0	0	4197	884	31	2	365	2	CYP7B1	8	65517309	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		65517309	80846713	38	5290											
RIMS2	9699	broad.mit.edu	37	8	104922392	104922392	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:104922392C>T	uc003yls.3	+	2	1230	c.989C>T	c.(988-990)aCg>aTg	p.T330M	RIMS2_uc003ylp.3_Missense_Mutation_p.T552M|RIMS2_uc003ylw.2_Missense_Mutation_p.T360M|RIMS2_uc003ylq.3_Missense_Mutation_p.T360M|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	630					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.T330K(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)			TTGGATCATACGTCTTGGCAT	0.388										HNSCC(12;0.0054)			T	104922392	C	T	104922392	3	4	80	1	0	0	0	0	1	0	0	0	13368	536	19	1	1799	1	RIMS2	8	104922392	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	39405083	104922392	41441630	39	5291											
CSMD3	114788	broad.mit.edu	37	8	113988286	113988286	+	Silent	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:113988286A>T	uc003ynu.3	-	6	1281	c.1122T>A	c.(1120-1122)ccT>ccA	p.P374P	CSMD3_uc003ynt.3_Silent_p.P334P|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	374						integral to membrane|plasma membrane				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						TAACATCTGCAGGTGTGCTAG	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113988286	A	T	113988286	2	4	80	1	0	0	0	0	0	0	0	1	3946	175	7	5		5	CSMD3	8	113988286	Silent	SNP	A	TCGA-06-2563-01A-01D-1494-08	9065894	113988286	32375736	40	5292											
COL14A1	7373	broad.mit.edu	37	8	121326264	121326264	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:121326264C>T	uc003yox.3	+	37	4814	c.4549C>T	c.(4549-4551)Ccc>Tcc	p.P1517S	COL14A1_uc003yoz.3_Missense_Mutation_p.P482S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1517	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			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)			TCAAGGAATGCCCGTGAGTTG	0.468													T	121326264	C	T	121326264	3	4	80	1	0	0	0	0	1	0	0	0	3671	739	26	3	4695	3	COL14A1	8	121326264	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	7337978	121326264	25037758	41	5293											
IDE	3416	broad.mit.edu	37	10	94267958	94267958	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr10:94267958C>G	uc001kia.3	-	7	1141	c.1065G>C	c.(1063-1065)tgG>tgC	p.W355C		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	355					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGTATTAACCCAGCCTGCAA	0.358													G	94267958	C	G	94267958	3	3	80	1	0	0	0	0	1	0	0	0	7493	624	22	5	2066	5	IDE	10	94267958	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		94267958	41266789	42	5294											
SLK	9748	broad.mit.edu	37	10	105762134	105762134	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr10:105762134C>A	uc001kxo.1	+	8	1232	c.1198C>A	c.(1198-1200)Cat>Aat	p.H400N	SLK_uc001kxp.1_Missense_Mutation_p.H400N	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	400	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TATTAATGAACATATTACCGA	0.388													A	105762134	C	A	105762134	3	1	80	1	0	0	0	0	1	0	0	0	14748	478	17	5	1232	5	SLK	10	105762134	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	11494176	105762134	29772613	43	5295											
SIRT3	23410	broad.mit.edu	37	11	233173	233173	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:233173A>C	uc001lok.4	-	2	550	c.516T>G	c.(514-516)gaT>gaG	p.D172E	SIRT3_uc001loj.4_Missense_Mutation_p.D30E|SIRT3_uc010qvm.2_Missense_Mutation_p.D108E|SIRT3_uc010qvn.2_Missense_Mutation_p.D91E|SIRT3_uc010qvo.2_Missense_Mutation_p.D172E|SIRT3_uc010qvp.2_Missense_Mutation_p.D172E|SIRT3_uc010qvq.2_Missense_Mutation_p.D30E|SIRT3_uc009ybt.1_Non-coding_Transcript	NM_012239	NP_001017524	Q9NTG7	SIRT3_HUMAN	Homo sapiens sirtuin 3 (SIRT3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	172	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GGTACGGGAGATCGTACTGCT	0.532													C	233173	A	C	233173	3	2	80	1	0	0	0	0	1	0	0	0	14339	330	12	5	703	5	SIRT3	11	233173	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08		233173	134773343	44	5296											
OR51M1	390059	broad.mit.edu	37	11	5411176	5411176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:5411176C>G	uc010qzc.2	+	0	570	c.548C>G	c.(547-549)tCt>tGt	p.S183C	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	183						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTGTGGATCTGTGGTCCTC	0.517													G	5411176	C	G	5411176	3	3	80	1	0	0	0	0	1	0	0	0	11103	913	32	5	550	5	OR51M1	11	5411176	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	5178003	5411176	129595340	45	5297											
VWCE	220001	broad.mit.edu	37	11	61048379	61048379	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:61048379C>T	uc001nra.3	-	7	1395	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	372						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACTCAGGGCCCCTGGGTGAGG	0.677													T	61048379	C	T	61048379	2	4	80	1	0	0	0	0	0	0	0	1	17242	622	22	3		3	VWCE	11	61048379	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	55637203	61048379	73958137	46	5298											
SCNN1A	6337	broad.mit.edu	37	12	6463925	6463925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:6463925G>T	uc001qnw.3	-	5	1674	c.1410C>A	c.(1408-1410)taC>taA	p.Y470*	SCNN1A_uc001qnv.3_Nonsense_Mutation_p.Y111*|SCNN1A_uc001qnx.3_Nonsense_Mutation_p.Y411*|SCNN1A_uc010sfb.2_Nonsense_Mutation_p.Y434*	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	411					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCTGCTGTGTGTACTTTGAAG	0.557													T	6463925	G	T	6463925	4	4	80	1	0	0	0	0	0	1	0	0	13927	1372	48	5	804	5	SCNN1A	12	6463925	Nonsense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		6463925	127387970	47	5299											
CLEC1A	51267	broad.mit.edu	37	12	10224014	10224014	+	Missense_Mutation	SNP	C	C	T	rs147882348	by1000genomes	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:10224014C>T	uc001qxb.3	-	5	845	c.761G>A	c.(760-762)cGt>cAt	p.R254H	CLEC1A_uc001qxd.3_Missense_Mutation_p.R211H|CLEC1A_uc010sgx.2_Missense_Mutation_p.R152H	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	254	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						ACAGACACAACGCTTCAATTC	0.488													T	10224014	C	T	10224014	3	4	80	1	0	0	0	0	1	0	0	0	3505	536	19	1	85	1	CLEC1A	12	10224014	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	3760089	10224014	123627881	48	5300											
KRT18	3875	broad.mit.edu	37	12	53343221	53343221	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:53343221C>T	uc001sbe.3	+	1	333	c.264C>T	c.(262-264)aaC>aaT	p.N88N	KRT18_uc009zmn.2_Silent_p.N88N|KRT18_uc001sbg.3_Silent_p.N88N|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	88	Coil 1A.|Interaction with TRADD.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAAGCCTGAACGACCGCCTGG	0.647													T	53343221	C	T	53343221	2	4	80	1	0	0	0	0	0	0	0	1	8455	535	19	1		1	KRT18	12	53343221	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	43119207	53343221	80508674	49	5301											
PTPRR	5801	broad.mit.edu	37	12	71094985	71094985	+	Silent	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:71094985G>T	uc001swi.2	-	6	1540	c.1126C>A	c.(1126-1128)Cga>Aga	p.R376R	PTPRR_uc001swh.2_Silent_p.R131R|PTPRR_uc009zrs.3_Silent_p.R170R|PTPRR_uc010stq.2_Silent_p.R264R|PTPRR_uc010str.1_Silent_p.R225R	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	376					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTGAGAATTCGGCTGGCTGAC	0.458													T	71094985	G	T	71094985	2	4	80	1	0	0	0	0	0	0	0	1	12810	1124	39	5		5	PTPRR	12	71094985	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	17751764	71094985	62756910	50	5302											
WSCD2	9671	broad.mit.edu	37	12	108600179	108600179	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:108600179C>T	uc001tms.3	+	3	1241	c.497_splice	c.e3+1	p.R166_splice	WSCD2_uc001tmt.3_Splice_Site_p.R166_splice	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	166	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGTGCTGAACGGTAGGGTCC	0.527													T	108600179	C	T	108600179	3	4	80	1	0	0	0	0	1	0	0	0	17404	550	19	1	502	1	WSCD2	12	108600179	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	37505194	108600179	25251716	51	5303											
TMEM132D	121256	broad.mit.edu	37	12	130184469	130184469	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:130184469C>T	uc009zyl.1	-	1	1182	c.854G>A	c.(853-855)cGt>cAt	p.R285H		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	285						integral to membrane		p.L284R(1)		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)		GTTGTCCAGACGCAGTTCTCT	0.522													T	130184469	C	T	130184469	3	4	80	1	0	0	0	0	1	0	0	0	16044	536	19	1	2477	1	TMEM132D	12	130184469	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	21584290	130184469	3667426	52	5304											
FAM70B	348013	broad.mit.edu	37	13	114502323	114502323	+	Silent	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr13:114502323C>G	uc001vuh.3	+	4	381	c.354C>G	c.(352-354)ccC>ccG	p.P118P		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	118						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			AACCGAGGCCCCTCACCACGG	0.542													G	114502323	C	G	114502323	2	3	80	1	0	0	0	0	0	0	0	1	5606	610	22	5		5	FAM70B	13	114502323	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08		114502323	667555	53	5305											
OR11H6	122748	broad.mit.edu	37	14	20692418	20692418	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr14:20692418C>A	uc010tlc.2	+	0	550	c.550C>A	c.(550-552)Ctt>Att	p.L184I		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTCCCAACTTCCCTTCTG	0.507													A	20692418	C	A	20692418	3	1	80	1	0	0	0	0	1	0	0	0	10929	565	20	5	552	5	OR11H6	14	20692418	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		20692418	86657122	54	5306											
RPL10L	140801	broad.mit.edu	37	14	47120841	47120841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr14:47120841delG	uc001wwg.3	-	0	188	c.99delC	c.(97-99)atcfs	p.I33fs		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	33					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.I33I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCAGGTCAAAGATGCGGATCT	0.537													-	47120841	G	-	47120841	7	5	80	1	0	1	0	1	0	0	0	0	13556	932	33	0	549	0	RPL10L	14	47120841	Frame_Shift_Del	DEL	G	TCGA-06-2563-01A-01D-1494-08	26428423	47120841	60228699	55	5307											
MAPKBP1	23005	broad.mit.edu	37	15	42106769	42106769	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:42106769G>A	uc001zok.4	+	10	1306	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	MAPKBP1_uc010bci.3_Silent_p.A334A|MAPKBP1_uc010udb.2_Silent_p.A222A|MAPKBP1_uc001zoj.4_Silent_p.A334A|MAPKBP1_uc010bcj.3_Intron|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Intron	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	340										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGGAGTGGCGAATGCCAGGT	0.488													A	42106769	G	A	42106769	2	1	80	1	0	0	0	0	0	0	0	1	9292	1045	37	2		2	MAPKBP1	15	42106769	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08		42106769	60424623	56	5308											
MAPKBP1	23005	broad.mit.edu	37	15	42111074	42111074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:42111074G>A	uc001zok.4	+	20	2514	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	MAPKBP1_uc010bci.3_Missense_Mutation_p.R737H|MAPKBP1_uc010udb.2_Missense_Mutation_p.R576H|MAPKBP1_uc001zoj.4_Missense_Mutation_p.R737H|MAPKBP1_uc010bcj.3_Missense_Mutation_p.R244H|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.R244H	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	743								p.R737H(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATGAGGCAGCGTCTGGCCGAG	0.602													A	42111074	G	A	42111074	3	1	80	1	0	0	0	0	1	0	0	0	9292	1145	40	1	2306	1	MAPKBP1	15	42111074	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	4305	42111074	60420318	57	5309											
ATP8B4	79895	broad.mit.edu	37	15	50339659	50339659	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:50339659A>T	uc001zxu.3	-	3	232	c.90T>A	c.(88-90)gaT>gaA	p.D30E	ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	30					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.D30D(2)|p.A29V(1)|p.A29A(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGATACGATTATCCTGGAAAA	0.373													T	50339659	A	T	50339659	3	4	80	1	0	0	0	0	1	0	0	0	1197	446	16	5	3588	5	ATP8B4	15	50339659	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	8228585	50339659	52191733	58	5310											
PTX4	390667	broad.mit.edu	37	16	1536134	1536134	+	Missense_Mutation	SNP	C	C	T	rs149572258		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:1536134C>T	uc010uvf.2	-	2	1228	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	415	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCGGAGCTGTCGAATCCGCCC	0.652													T	1536134	C	T	1536134	3	4	80	1	0	0	0	0	1	0	0	0	12823	884	31	2	196	2	PTX4	16	1536134	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		1536134	88818619	59	5311											
SRRM2	23524	broad.mit.edu	37	16	2817214	2817214	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:2817214G>C	uc002crk.3	+	10	7234	c.6685G>C	c.(6685-6687)Gcc>Ccc	p.A2229P	SRRM2_uc002crj.1_Missense_Mutation_p.A2133P|SRRM2_uc002crl.1_Missense_Mutation_p.A2229P|SRRM2_uc010bsu.1_Missense_Mutation_p.A2133P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2229	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCCAACCTTGCCAGCAGGAT	0.612													C	2817214	G	C	2817214	3	2	80	1	0	0	0	0	1	0	0	0	15168	1319	46	5	6723	5	SRRM2	16	2817214	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	1281080	2817214	87537539	60	5312											
DNAH3	55567	broad.mit.edu	37	16	21033373	21033373	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:21033373C>T	uc010vbe.2	-	39	5696	c.5696G>A	c.(5695-5697)cGc>cAc	p.R1899H		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1899	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1899C(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAATGAAGGCGACCAAATTC	0.458													T	21033373	C	T	21033373	3	4	80	1	0	0	0	0	1	0	0	0	4603	768	27	1	6745	1	DNAH3	16	21033373	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	18216159	21033373	69321380	61	5313											
POLR2A	5430	broad.mit.edu	37	17	7404279	7404279	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:7404279G>A	uc002ghf.4	+	11	2288	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	634					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				agaatggggagctgatcatgg	0.557													A	7404279	G	A	7404279	2	1	80	1	0	0	0	0	0	0	0	1	12214	962	34	3		3	POLR2A	17	7404279	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08		7404279	73790931	62	5314											
TP53	7157	broad.mit.edu	37	17	7578541	7578541	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:7578541A>G	uc002gim.2	-	4	583	c.389T>C	c.(388-390)cTc>cCc	p.L130P	TP53_uc002gig.1_Missense_Mutation_p.L130P|TP53_uc002gih.3_Missense_Mutation_p.L130P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130P|TP53_uc010cnh.1_Missense_Mutation_p.L130P|TP53_uc002gij.2_Missense_Mutation_p.L130P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37P|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91P	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> 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.L130R(14)|p.Y126_K132delYSPALNK(12)|p.L130V(11)|p.L130F(10)|p.0?(8)|p.L130H(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130fs*41(4)|p.S127_Q136del10(2)|p.A129_N131delALN(2)|p.L130P(2)|p.L130fs*19(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.N131fs*27(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.Y126fs*11(1)|p.A129_L130insXX(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.A129G(1)|p.A129D(1)|p.L130fs*40(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(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)		CATCTTGTTGAGGGCAGGGGA	0.557		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)			G	7578541	A	G	7578541	3	3	80	1	0	0	0	0	1	0	0	0	16378	304	11	4	909	4	TP53	17	7578541	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	174262	7578541	73616669	63	5315											
C17orf39	79018	broad.mit.edu	37	17	17943061	17943061	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:17943061G>A	uc002gsg.1	+	0	451	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	ATPAF2_uc002gsd.1_5'Flank|ATPAF2_uc002gse.1_5'Flank|ATPAF2_uc010vxf.1_5'Flank	NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.	95	Pro-rich.									large_intestine(2)|lung(1)|ovary(2)|skin(1)	6	all_neural(463;0.228)					CCCGCCGGCCGGTGCCTCCGC	0.766													A	17943061	G	A	17943061	3	1	80	1	0	0	0	0	1	0	0	0	1855	1116	39	2	285	2	C17orf39	17	17943061	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	10364520	17943061	63252149	64	5316											
ACACA	31	broad.mit.edu	37	17	35614745	35614745	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:35614745C>T	uc002hnm.3	-	13	1786	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	ACACA_uc002hnk.3_Missense_Mutation_p.R454H|ACACA_uc002hnl.3_Missense_Mutation_p.R474H|ACACA_uc002hnn.3_Missense_Mutation_p.R532H|ACACA_uc002hno.3_Missense_Mutation_p.R569H|ACACA_uc010cuz.3_Missense_Mutation_p.R532H	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	532	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTATTGCTGCGGAAATTTAG	0.413													T	35614745	C	T	35614745	3	4	80	1	0	0	0	0	1	0	0	0	106	768	27	1	5617	1	ACACA	17	35614745	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	17671684	35614745	45580465	65	5317											
KRT33A	3883	broad.mit.edu	37	17	39503142	39503142	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:39503142C>T	uc002hwk.1	-	4	867	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	277	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ATTGACCGTGCGTCTCAGCTC	0.582													T	39503142	C	T	39503142	3	4	80	1	0	0	0	0	1	0	0	0	8469	768	27	1	396	1	KRT33A	17	39503142	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	3888397	39503142	41692068	66	5318											
JUP	3728	broad.mit.edu	37	17	39681243	39681243	+	Missense_Mutation	SNP	G	G	A	rs138005000	byFrequency	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:39681243G>A	uc010wfs.2	-	5	1009	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	JUP_uc002hxd.4_Missense_Mutation_p.T171M	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGCCTGTTCCGTCTCAAACCT	0.587													A	39681243	G	A	39681243	3	1	80	1	0	0	0	0	1	0	0	0	7972	1145	40	1		1	JUP	17	39681243	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	178101	39681243	41513967	67	5319											
EPN3	55040	broad.mit.edu	37	17	48614388	48614388	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:48614388G>A	uc010wms.2	+	2	824	c.636G>A	c.(634-636)gaG>gaA	p.E212E	EPN3_uc002ira.4_Silent_p.E157E|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.E157E			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	157						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TGGCACTGGAGGGCATCGGCA	0.657													A	48614388	G	A	48614388	2	1	80	1	0	0	0	0	0	0	0	1	5187	991	35	3		3	EPN3	17	48614388	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	8933145	48614388	32580822	68	5320											
APBA3	9546	broad.mit.edu	37	19	3759564	3759564	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:3759564T>C	uc002lyp.1	-	2	788	c.611A>G	c.(610-612)cAg>cGg	p.Q204R		NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	204					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACCCTCCTGGGGGGCAGG	0.632													C	3759564	T	C	3759564	3	2	80	1	0	0	0	0	1	0	0	0	758	1580	55	4	1152	4	APBA3	19	3759564	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08		3759564	55369419	69	5321											
CLPP	8192	broad.mit.edu	37	19	6366351	6366351	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:6366351C>T	uc002mem.1	+	4	761	c.638C>T	c.(637-639)aCc>aTc	p.T213I		NM_006012	NP_006003	Q16740	CLPP_HUMAN	Homo sapiens ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP), nuclear gene encoding mitochondrial protein, mRNA.	213					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity	p.T213A(1)		endometrium(2)|large_intestine(2)|ovary(2)	6						GCCAAGCACACCAAACAGAGC	0.557													T	6366351	C	T	6366351	3	4	80	1	0	0	0	0	1	0	0	0	3552	507	18	3	656	3	CLPP	19	6366351	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	2606787	6366351	52762632	70	5322											
VAV1	7409	broad.mit.edu	37	19	6772889	6772889	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:6772889C>A	uc002mfu.1	+	0	168	c.71C>A	c.(70-72)aCc>aAc	p.T24N	VAV1_uc010xjh.1_Missense_Mutation_p.T24N|VAV1_uc010dva.1_Missense_Mutation_p.T24N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	24	CH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CACCGCGTGACCTGGGATGGG	0.662													A	6772889	C	A	6772889	3	1	80	1	0	0	0	0	1	0	0	0	17128	507	18	5	73	5	VAV1	19	6772889	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	406538	6772889	52356094	71	5323											
CYP4F8	11283	broad.mit.edu	37	19	15730340	15730340	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:15730340T>C	uc002nbi.3	+	3	447	c.383T>C	c.(382-384)cTg>cCg	p.L128P	CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	128					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TACAAGACCCTGAAGCCCTGG	0.537													C	15730340	T	C	15730340	3	2	80	1	0	0	0	0	1	0	0	0	4191	1580	55	4	393	4	CYP4F8	19	15730340	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	8957451	15730340	43398643	72	5324											
PSG7	5676	broad.mit.edu	37	19	43433692	43433692	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:43433692A>T	uc002ovl.4	-	3	710	c.608T>A	c.(607-609)cTa>cAa	p.L203Q	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.L82Q	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	204	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				GACACCAAATAGGTAGAGGGT	0.522													T	43433692	A	T	43433692	3	4	80	1	0	0	0	0	1	0	0	0	12660	420	15	5	664	5	PSG7	19	43433692	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	27703352	43433692	15695291	73	5325											
MYBPC2	4606	broad.mit.edu	37	19	50945481	50945481	+	Silent	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:50945481C>A	uc002psf.2	+	8	864	c.813C>A	c.(811-813)ggC>ggA	p.G271G		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	271	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGACAGAGGCAACAAGATCA	0.522													A	50945481	C	A	50945481	2	1	80	1	0	0	0	0	0	0	0	1	10012	697	25	5		5	MYBPC2	19	50945481	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	7511789	50945481	8183502	74	5326											
TGM3	7053	broad.mit.edu	37	20	2298103	2298103	+	Missense_Mutation	SNP	C	C	A	rs147913958		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr20:2298103C>A	uc002wfx.4	+	6	1052	c.955C>A	c.(955-957)Ccc>Acc	p.P319T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	319					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CATGGGAAACCCCCTGGACAA	0.507													A	2298103	C	A	2298103	3	1	80	1	0	0	0	0	1	0	0	0	15828	623	22	5	981	5	TGM3	20	2298103	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		2298103	60727417	75	5327											
FAM65C	140876	broad.mit.edu	37	20	49221267	49221267	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr20:49221267C>T	uc010zyt.2	-	11	1252	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.G330D|FAM65C_uc002xvn.1_Missense_Mutation_p.G330D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	330										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAAAACTTGCCCGTGGGGCT	0.592													T	49221267	C	T	49221267	3	4	80	1	0	0	0	0	1	0	0	0	5601	739	26	3	1895	3	FAM65C	20	49221267	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	46923164	49221267	13804253	76	5328											
TRPM2	7226	broad.mit.edu	37	21	45789188	45789188	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr21:45789188G>A	uc010gpt.1	+	4	833	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TRPM2_uc002zet.1_Missense_Mutation_p.G245S|TRPM2_uc002zeu.1_Missense_Mutation_p.G245S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G245S|TRPM2_uc002zex.1_Missense_Mutation_p.G31S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	245						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGCCACCTGGGGCACTGTCCA	0.667													A	45789188	G	A	45789188	3	1	80	1	0	0	0	0	1	0	0	0	16583	1232	43	3	751	3	TRPM2	21	45789188	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		45789188	2340707	77	5329											
ZBED4	9889	broad.mit.edu	37	22	50280049	50280049	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr22:50280049C>T	uc003bix.2	+	1	3209	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S	ZBED4_uc021wrx.1_Silent_p.S913S	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	913						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGAGATGTCCGTCGAGTGTA	0.587													T	50280049	C	T	50280049	2	4	80	1	0	0	0	0	0	0	0	1	17517	639	23	2		2	ZBED4	22	50280049	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08		50280049	1024517	78	5330											
CXorf23	256643	broad.mit.edu	37	X	19968952	19968952	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:19968952C>T	uc004czp.3	-	6	1664	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CXorf23_uc011mjg.2_Missense_Mutation_p.R120Q|CXorf23_uc004czo.3_Missense_Mutation_p.R505Q	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	555						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATGTCATGTCGTAGGTCATT	0.368													T	19968952	C	T	19968952	3	4	80	1	0	0	0	0	1	0	0	0	4103	884	31	2	404	2	CXorf23	23	19968952	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		19968952	135301608	79	5331											
OPHN1	4983	broad.mit.edu	37	X	67421527	67421527	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:67421527T>C	uc004dww.4	-	10	1253	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	OPHN1_uc011mpg.2_Missense_Mutation_p.Y320C	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	320	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCTCACACAGTACTTCAGTGT	0.418													C	67421527	T	C	67421527	3	2	80	1	0	0	0	0	1	0	0	0	10875	1638	57	4	1505	4	OPHN1	23	67421527	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	47452575	67421527	87849033	80	5332											
LPAR4	2846	broad.mit.edu	37	X	78011289	78011289	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:78011289C>A	uc022bzj.1	+	0	923	c.923C>A	c.(922-924)cCt>cAt	p.P308H	LPAR4_uc010nme.3_Missense_Mutation_p.P308H	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	308						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.D307N(1)|p.D307Y(1)|p.D307H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGTTTTGACCCTTTCATCTAT	0.418													A	78011289	C	A	78011289	3	1	80	1	0	0	0	0	1	0	0	0	8907	681	24	5	925	5	LPAR4	23	78011289	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	10589762	78011289	77259271	81	5333											
POF1B	79983	broad.mit.edu	37	X	84634326	84634326	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:84634326T>C	uc004eer.2	-	1	280	c.134A>G	c.(133-135)aAa>aGa	p.K45R	POF1B_uc004ees.3_Missense_Mutation_p.K45R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	45							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CACTACATTTTTTTCTGGAGG	0.577													C	84634326	T	C	84634326	3	2	80	1	0	0	0	0	1	0	0	0	12182	1841	64	4	1699	4	POF1B	23	84634326	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	6623037	84634326	70636234	82	5334											
GUCY2F	2986	broad.mit.edu	37	X	108673542	108673542	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:108673542G>A	uc022cch.1	-	6	1870	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.F595F	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	595	Protein kinase.				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			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATACCATTTCGAACACATCAC	0.388													A	108673542	G	A	108673542	2	1	80	1	0	0	0	0	0	0	0	1	6898	1049	37	2		2	GUCY2F	23	108673542	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	24039216	108673542	46597018	83	5335											
LAMP2	3920	broad.mit.edu	37	X	119565295	119565295	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:119565295G>A	uc004ess.4	-						LAMP2_uc004est.4_Silent_p.D372D|LAMP2_uc011mtz.2_Intron	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.						platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GGAAGTTGTCGTCATCTGCAC	0.438													A	119565295	G	A	119565295	2	1	80	1	0	0	0	0	0	0	0	1	8618	1136	40	1		1	LAMP2	23	119565295	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	10891753	119565295	35705265	84	5336											
GRIA3	2892	broad.mit.edu	37	X	122532507	122532507	+	Silent	SNP	C	C	T	rs148850386	byFrequency	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:122532507C>T	uc004etq.4	+	6	1225	c.933C>T	c.(931-933)caC>caT	p.H311H	GRIA3_uc004etr.4_Silent_p.H311H|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.H295H	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	311					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CATTGACACACGACGCAATAC	0.423													T	122532507	C	T	122532507	2	4	80	1	0	0	0	0	0	0	0	1	6769	535	19	1		1	GRIA3	23	122532507	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	2967212	122532507	32738053	85	5337											
SMARCA1	6594	broad.mit.edu	37	X	128657225	128657225	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:128657225G>A	uc011muk.1	-	0	236	c.123C>T	c.(121-123)gcC>gcT	p.A41A	SMARCA1_uc004eun.4_Silent_p.A41A|SMARCA1_uc004eup.4_Silent_p.A41A|SMARCA1_uc011mul.1_Silent_p.A41A	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	41					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGGTGGCCGCGGCGGCCGCTC	0.667													A	128657225	G	A	128657225	2	1	80	1	0	0	0	0	0	0	0	1	14768	1103	39	2		2	SMARCA1	23	128657225	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	6124718	128657225	26613335	86	5338											
ZNF280C	55609	broad.mit.edu	37	X	129370597	129370598	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:129370597_129370598delTG	uc004evm.3	-	6	712_713	c.509_510delCA	c.(508-510)tcafs	p.S170fs	ZNF280C_uc010nrf.2_Frame_Shift_Del_p.S170fs	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	170	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAACACATATGAAGTATTTTT	0.312													-	129370598	TG	-	129370597	7	5	80	1	0	1	0	1	0	0	0	0	17813	1451	51	0	1755	0	ZNF280C	23	129370597	Frame_Shift_Del	DEL	TG	TCGA-06-2563-01A-01D-1494-08	713372	129370597	25899963	87	5339											
MAGEC1	9947	broad.mit.edu	37	X	140995644	140995644	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:140995644C>T	uc004fbt.3	+	3	2778	c.2454C>T	c.(2452-2454)ccC>ccT	p.P818P	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.P477P	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	818							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTTCCCCTCCTCCACTT	0.557										HNSCC(15;0.026)			T	140995644	C	T	140995644	2	4	80	1	0	0	0	0	0	0	0	1	9180	668	24	3		3	MAGEC1	23	140995644	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	11625047	140995644	14274916	88	5340											
AFF2	2334	broad.mit.edu	37	X	148035181	148035181	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:148035181C>T	uc004fcp.3	+	9	1948	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	AFF2_uc004fcq.3_Missense_Mutation_p.S480L|AFF2_uc004fcr.3_Missense_Mutation_p.S451L|AFF2_uc011mxb.2_Missense_Mutation_p.S455L|AFF2_uc004fcs.3_Missense_Mutation_p.S457L|AFF2_uc011mxc.2_Missense_Mutation_p.S131L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	490					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGCGAATCGGAGAGCAGC	0.557													T	148035181	C	T	148035181	3	4	80	1	0	0	0	0	1	0	0	0	357	893	31	2	1562	2	AFF2	23	148035181	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	7039537	148035181	7235379	89	5341											
CELA3B	10136	broad.mit.edu	37	1	22333423	22333423	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:22333423G>A	uc001bfl.3	+	4	434	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	139	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.V139I(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGGAGATGCCGTCCAGCTCGC	0.627													A	22333423	G	A	22333423	3	1	81	1	0	0	0	0	1	0	0	0	3214	1145	40	1		1	CELA3B	1	22333423	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		22333423	226917198	1	5342											
EPB41	2035	broad.mit.edu	37	1	29344851	29344851	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:29344851G>A	uc001brm.2	+	6	1148	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	EPB41_uc001brg.2_Missense_Mutation_p.D132N|EPB41_uc001brh.2_Missense_Mutation_p.D132N|EPB41_uc001brj.2_Missense_Mutation_p.D132N|EPB41_uc001bri.2_Missense_Mutation_p.D306N|EPB41_uc009vtk.2_Missense_Mutation_p.D306N|EPB41_uc001brk.3_Missense_Mutation_p.D341N|EPB41_uc001brl.2_Missense_Mutation_p.D341N|EPB41_uc021okg.1_Missense_Mutation_p.D341N|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_Missense_Mutation_p.D132N	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	341	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.V340V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GGGAGACTACGACCCAGAACT	0.468													A	29344851	G	A	29344851	3	1	81	1	0	0	0	0	1	0	0	0	5151	1058	37	2	1043	2	EPB41	1	29344851	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	7011428	29344851	219905770	2	5343											
EIF2C3	192669	broad.mit.edu	37	1	36505436	36505436	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:36505436G>A	uc001bzp.3	+	14	2233	c.1888G>A	c.(1888-1890)Gta>Ata	p.V630I	EIF2C3_uc001bzq.3_Missense_Mutation_p.V396I	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	630	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTGCCACAGTAAGAGTTCA	0.383													A	36505436	G	A	36505436	3	1	81	1	0	0	0	0	1	0	0	0	5007	1029	36	3	1946	3	EIF2C3	1	36505436	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	7160585	36505436	212745185	3	5344											
EPHA10	284656	broad.mit.edu	37	1	38197175	38197175	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:38197175C>T	uc009vvi.3	-	6	1657	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	524	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.T524T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGACGTAGCGGGTAGCCGG	0.592													T	38197175	C	T	38197175	3	4	81	1	0	0	0	0	1	0	0	0	5166	768	27	1	1499	1	EPHA10	1	38197175	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	1691739	38197175	211053446	4	5345											
GBP1	2633	broad.mit.edu	37	1	89525904	89525904	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:89525904G>A	uc001dmx.2	-	2	514	c.294C>T	c.(292-294)acC>acT	p.T98T		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	98					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CCAGACCCTCGGTGTCCAGCA	0.507													A	89525904	G	A	89525904	2	1	81	1	0	0	0	0	0	0	0	1	6273	1103	39	2		2	GBP1	1	89525904	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	51328729	89525904	159724717	5	5346											
TXNIP	10628	broad.mit.edu	37	1	145440909	145440909	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:145440909C>T	uc001enn.4	+	6	1337	c.996C>T	c.(994-996)ccC>ccT	p.P332P	TXNIP_uc010oys.2_Silent_p.P277P	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	332					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGCTCCTCCCTGCTATATGG	0.443													T	145440909	C	T	145440909	2	4	81	1	0	0	0	0	0	0	0	1	16800	668	24	3		3	TXNIP	1	145440909	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	55915005	145440909	103809712	6	5347											
FLG	2312	broad.mit.edu	37	1	152278855	152278855	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:152278855C>T	uc001ezu.1	-	2	8543	c.8507G>A	c.(8506-8508)aGt>aAt	p.S2836N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2836	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TCTGCTTGCACTTCTGGATCC	0.557									Ichthyosis				T	152278855	C	T	152278855	3	4	81	1	0	0	0	0	1	0	0	0	5922	565	20	3	3682	3	FLG	1	152278855	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	6837946	152278855	96971766	7	5348											
TBC1D8	11138	broad.mit.edu	37	2	101650173	101650173	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:101650173C>G	uc010fiv.3	-	9	1737	c.1606G>C	c.(1606-1608)Gtg>Ctg	p.V536L	TBC1D8_uc010yvw.2_Missense_Mutation_p.V551L|TBC1D8_uc002tau.4_Missense_Mutation_p.V293L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	536	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GACTCCTCCACCAGATTCCCG	0.542													G	101650173	C	G	101650173	3	3	81	1	0	0	0	0	1	0	0	0	15622	507	18	5	1860	5	TBC1D8	2	101650173	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		101650173	141549200	8	5349											
SAP130	79595	broad.mit.edu	37	2	128707447	128707447	+	Silent	SNP	G	G	C			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:128707447G>C	uc010fmd.2	-	17	3003	c.2871C>G	c.(2869-2871)gtC>gtG	p.V957V	SAP130_uc002tpn.2_Silent_p.V682V|SAP130_uc002tpp.2_Silent_p.V922V	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	922	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACTAACCTTTGACCCGGACGT	0.433													C	128707447	G	C	128707447	2	2	81	1	0	0	0	0	0	0	0	1	13831	1277	45	5		5	SAP130	2	128707447	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	27057274	128707447	114491926	9	5350											
KBTBD10	10324	broad.mit.edu	37	2	170382111	170382111	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:170382111A>G	uc002ueu.1	+	5	1803	c.1726A>G	c.(1726-1728)Aaa>Gaa	p.K576E	KBTBD10_uc010zdh.1_Missense_Mutation_p.K514E	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	576					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						AGATGATAAAAAAGAATGGGC	0.373													G	170382111	A	G	170382111	3	3	81	1	0	0	0	0	1	0	0	0	7990	15	1	4	1748	4	KBTBD10	2	170382111	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	41674664	170382111	72817262	10	5351											
TTN	7273	broad.mit.edu	37	2	179419816	179419816	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:179419816G>A	uc021vsy.1	-	279	80891	c.80666C>T	c.(80665-80667)tCt>tTt	p.S26889F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S20584F|TTN_uc021vta.1_Missense_Mutation_p.S20517F|TTN_uc021vtb.1_Missense_Mutation_p.S20392F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27816	Fibronectin type-III 95.						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)			GAGCTTCACAGATGTACCTGC	0.373													A	179419816	G	A	179419816	3	1	81	1	0	0	0	0	1	0	0	0	16732	942	33	3	19737	3	TTN	2	179419816	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	9037705	179419816	63779557	11	5352											
PLCL1	5334	broad.mit.edu	37	2	198966043	198966043	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:198966043C>T	uc010fsp.3	+	3	3352	c.2954C>T	c.(2953-2955)gCg>gTg	p.A985V	PLCL1_uc002uuv.4_Missense_Mutation_p.A906V	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	985					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATAGAAATGGCGGACACAGTC	0.343													T	198966043	C	T	198966043	3	4	81	1	0	0	0	0	1	0	0	0	12039	768	27	1	2968	1	PLCL1	2	198966043	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	19546227	198966043	44233330	12	5353											
COL4A4	1286	broad.mit.edu	37	2	227872085	227872085	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:227872085G>A	uc021vxr.1	-	46	5130	c.5029C>T	c.(5029-5031)Cgc>Tgc	p.R1677C	COL4A4_uc021vxs.1_Missense_Mutation_p.R1674C	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1677	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.R1677C(2)|p.Q1676K(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATTTTCTGGCGTTGGGCCTGG	0.493													A	227872085	G	A	227872085	3	1	81	1	0	0	0	0	1	0	0	0	3693	1145	40	1	47	1	COL4A4	2	227872085	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	28906042	227872085	15327288	13	5354											
ATP2B2	491	broad.mit.edu	37	3	10387792	10387792	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:10387792G>A	uc003bvt.3	-	16	2873	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	ATP2B2_uc003bvv.3_Missense_Mutation_p.R767W|ATP2B2_uc003bvw.3_Missense_Mutation_p.R767W|ATP2B2_uc010hdo.3_Missense_Mutation_p.R517W	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	812					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACCTGCCGCTGCTCAGTG	0.682													A	10387792	G	A	10387792	3	1	81	1	0	0	0	0	1	0	0	0	1140	1086	38	1	1325	1	ATP2B2	3	10387792	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		10387792	187634638	14	5355											
SLC6A20	54716	broad.mit.edu	37	3	45814090	45814090	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:45814090C>T	uc011bai.2	-	4	724	c.600G>A	c.(598-600)gcG>gcA	p.A200A	SLC6A20_uc003cow.3_5'Flank|SLC6A20_uc011baj.2_Intron	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	200					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGGGCAGTGACGCCGTGAAAT	0.597													T	45814090	C	T	45814090	2	4	81	1	0	0	0	0	0	0	0	1	14684	523	19	1		1	SLC6A20	3	45814090	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	35426298	45814090	152208340	15	5356											
GHSR	2693	broad.mit.edu	37	3	172165997	172165997	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:172165997C>T	uc003fib.2	-	0	250	c.207G>A	c.(205-207)tcG>tcA	p.S69S	GHSR_uc011bpv.2_Silent_p.S69S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	69					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.S69S(3)|p.S69T(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCGGAAGCGCGACACCACCA	0.657													T	172165997	C	T	172165997	2	4	81	1	0	0	0	0	0	0	0	1	6375	755	27	1		1	GHSR	3	172165997	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	126351907	172165997	25856433	16	5357											
SULT1B1	27284	broad.mit.edu	37	4	70599914	70599914	+	Silent	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:70599914A>G	uc003hen.3	-	4	742	c.444T>C	c.(442-444)aaT>aaC	p.N148N		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	148					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGGCTGTAAATTATTCATTA	0.353													G	70599914	A	G	70599914	2	3	81	1	0	0	0	0	0	0	0	1	15373	98	4	4		4	SULT1B1	4	70599914	Silent	SNP	A	TCGA-06-2564-01A-01D-1494-08		70599914	120554362	17	5358											
SEPT11	55752	broad.mit.edu	37	4	77949846	77949846	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:77949846G>A	uc011cca.2	+	9	1400	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	SEPT11_uc010ijh.1_Missense_Mutation_p.E332K|SEPT11_uc003hkj.3_Missense_Mutation_p.E340K			Q9NVA2	SEP11_HUMAN	Homo sapiens septin 11 (SEPT11), mRNA.	340					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GAAAGAAGAAGAAATGAGACA	0.403													A	77949846	G	A	77949846	3	1	81	1	0	0	0	0	1	0	0	0	14061	943	33	3	1048	3	SEPT11	4	77949846	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	7349932	77949846	113204430	18	5359											
FAT1	2195	broad.mit.edu	37	4	187541182	187541183	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:187541182_187541183insA	uc003izf.3	-	9	6745_6746	c.6557_6558insT	c.(6556-6558)ttcfs	p.F2186fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2186	Cadherin 20.				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			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						CTGCACTGTAGAAAGGTTTTTC	0.51										HNSCC(5;0.00058)			A	187541183	-	A	187541182	7	5	81	1	0	1	1	0	0	0	0	0	5689	933	33	0	7280	0	FAT1	4	187541182	Frame_Shift_Ins	INS	-	TCGA-06-2564-01A-01D-1494-08	109591336	187541182	3613094	19	5360											
FSTL4	23105	broad.mit.edu	37	5	132652162	132652162	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr5:132652162C>T	uc003kyn.1	-	4	810	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	198	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGCCAGTTCGGAGCTGCTG	0.557													T	132652162	C	T	132652162	3	4	81	1	0	0	0	0	1	0	0	0	6079	893	31	2	1984	2	FSTL4	5	132652162	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		132652162	48263098	20	5361											
NPM1	4869	broad.mit.edu	37	5	170819769	170819769	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr5:170819769A>C	uc003mbi.3	+	4	653	c.408A>C	c.(406-408)ttA>ttC	p.L136F	NPM1_uc003mbh.3_Missense_Mutation_p.L136F|NPM1_uc003mbj.3_Missense_Mutation_p.L136F	NM_002520	NP_002511	P06748	NPM_HUMAN	Homo sapiens nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1), transcript variant 1, mRNA.	136	Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAAACTCTTAAGTATATCTG	0.388			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"								C	170819769	A	C	170819769	3	2	81	1	0	0	0	0	1	0	0	0	10587	359	13	5	426	5	NPM1	5	170819769	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	38167607	170819769	10095491	21	5362											
NUP153	9972	broad.mit.edu	37	6	17629357	17629357	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:17629357C>T	uc003ncd.1	-	17	3273	c.3073G>A	c.(3073-3075)Ggt>Agt	p.G1025S	NUP153_uc011dje.1_Missense_Mutation_p.G1056S|NUP153_uc010jpl.1_Missense_Mutation_p.G983S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	1025					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACACCTGTACCAAAGCTAAAA	0.443													T	17629357	C	T	17629357	3	4	81	1	0	0	0	0	1	0	0	0	10755	594	21	3	1374	3	NUP153	6	17629357	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		17629357	153485710	22	5363											
SLC26A8	116369	broad.mit.edu	37	6	35923059	35923059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:35923059G>A	uc003olm.3	-	16	2213	c.2102C>T	c.(2101-2103)gCg>gTg	p.A701V	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.A283V|SLC26A8_uc003oll.3_Missense_Mutation_p.A596V|SLC26A8_uc003oln.3_Missense_Mutation_p.A701V	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	701	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGCTTTCCGCCACATCAGG	0.502													A	35923059	G	A	35923059	3	1	81	1	0	0	0	0	1	0	0	0	14523	1087	38	1	826	1	SLC26A8	6	35923059	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	18293702	35923059	135192008	23	5364											
FRK	2444	broad.mit.edu	37	6	116263659	116263659	+	Missense_Mutation	SNP	G	G	A	rs142072444		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:116263659G>A	uc003pwi.1	-	7	1883	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	479	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TGTCTCAAATGTAGGTCGTTC	0.398													A	116263659	G	A	116263659	3	1	81	1	0	0	0	0	1	0	0	0	6048	1377	48	3	85	3	FRK	6	116263659	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	80340600	116263659	54851408	24	5365											
DFNA5	1687	broad.mit.edu	37	7	24742379	24742379	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:24742379C>T	uc010kus.1	-	9	1345	c.1257_splice	c.e9+1	p.L419_splice	DFNA5_uc003sxa.1_Splice_Site_p.L419_splice|DFNA5_uc010kut.1_Splice_Site_p.L255_splice	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	419					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGTTGCTTACCAAGTGGCACA	0.512													T	24742379	C	T	24742379	2	4	81	1	0	0	0	0	0	0	0	1	4454	608	21	3		3	DFNA5	7	24742379	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08		24742379	134396284	25	5366											
TNS3	64759	broad.mit.edu	37	7	47440469	47440469	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:47440469C>T	uc003tnw.3	-	13	1124	c.766G>A	c.(766-768)Gtc>Atc	p.V256I	TNS3_uc010kyo.1_3'UTR	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	256	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGGAAAATGACGTCACGGGTG	0.567													T	47440469	C	T	47440469	3	4	81	1	0	0	0	0	1	0	0	0	16341	536	19	1	3643	1	TNS3	7	47440469	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	22698090	47440469	111698194	26	5367											
TFPI2	7980	broad.mit.edu	37	7	93516148	93516148	+	Missense_Mutation	SNP	C	C	T	rs12669450		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:93516148C>T	uc003umy.1	-	4	767	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R220Q	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	231			R -> Q (in dbSNP:rs12669450).		blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTGCTTCTTCCGAATTTTCCG	0.328													T	93516148	C	T	93516148	3	4	81	1	0	0	0	0	1	0	0	0	15806	652	23	2	19	2	TFPI2	7	93516148	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	46075679	93516148	65622515	27	5368											
NRF1	4899	broad.mit.edu	37	7	129357140	129357140	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:129357140G>A	uc003vpa.3	+	8	1267	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T	NRF1_uc003voz.3_Missense_Mutation_p.A383T|NRF1_uc011kpa.2_Missense_Mutation_p.A222T|NRF1_uc003vpb.3_Missense_Mutation_p.A383T	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	383	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CCAGGCGGTGGCATCGTTGGC	0.567													A	129357140	G	A	129357140	3	1	81	1	0	0	0	0	1	0	0	0	10646	1203	42	3	1177	3	NRF1	7	129357140	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	35840992	129357140	29781523	28	5369											
ZC3HC1	51530	broad.mit.edu	37	7	129662254	129662254	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:129662254C>T	uc003vpi.3	-	8	1372	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	ZC3HC1_uc010lma.3_Missense_Mutation_p.D265N	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	449					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCGCTGGCATCTGGTTCAGTT	0.552													T	129662254	C	T	129662254	3	4	81	1	0	0	0	0	1	0	0	0	17574	913	32	3	171	3	ZC3HC1	7	129662254	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	305114	129662254	29476409	29	5370											
ABCF2	10061	broad.mit.edu	37	7	150921937	150921937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:150921937G>A	uc003wjo.1	-	2	403	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	ABCF2_uc003wjp.3_Nonsense_Mutation_p.Q98*	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	98	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTCTTGACCATGAAAG	0.507													A	150921937	G	A	150921937	4	1	81	1	0	0	0	0	0	1	0	0	66	1299	45	3	1672	3	ABCF2	7	150921937	Nonsense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	21259683	150921937	8216726	30	5371											
RAB11FIP1	80223	broad.mit.edu	37	8	37732412	37732412	+	Missense_Mutation	SNP	C	C	T	rs140686896		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:37732412C>T	uc003xkm.2	-	2	1299	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.A415T|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.A263T	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	415					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGAGTTTGCGGGGGCCATG	0.557													T	37732412	C	T	37732412	3	4	81	1	0	0	0	0	1	0	0	0	12893	768	27	1	2624	1	RAB11FIP1	8	37732412	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		37732412	108631610	31	5372											
IMPAD1	54928	broad.mit.edu	37	8	57878872	57878872	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:57878872C>T	uc003xte.4	-	3	972	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	229						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTAGGAAGAGCGGGCTTTCAC	0.423													T	57878872	C	T	57878872	3	4	81	1	0	0	0	0	1	0	0	0	7725	768	27	1	401	1	IMPAD1	8	57878872	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	20146460	57878872	88485150	32	5373											
MTDH	92140	broad.mit.edu	37	8	98735243	98735243	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:98735243A>G	uc003yhz.3	+	10	1986	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	553					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.N553N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ACCAAGCAAAATAGTGTGCCT	0.363													G	98735243	A	G	98735243	3	3	81	1	0	0	0	0	1	0	0	0	9917	101	4	4	1700	4	MTDH	8	98735243	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	40856371	98735243	47628779	33	5374											
VPS13B	157680	broad.mit.edu	37	8	100732741	100732741	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:100732741G>A	uc003yiv.3	+	37	7012	c.6901G>A	c.(6901-6903)Gac>Aac	p.D2301N	VPS13B_uc003yiw.3_Missense_Mutation_p.D2276N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2301					protein transport					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)			AAGTTCAGATGACCTACGGAC	0.403													A	100732741	G	A	100732741	3	1	81	1	0	0	0	0	1	0	0	0	17187	1290	45	3	7241	3	VPS13B	8	100732741	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	1997498	100732741	45631281	34	5375											
FBP2	8789	broad.mit.edu	37	9	97333780	97333780	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:97333780G>A	uc004auv.3	-	3	598	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	177					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	p.L176F(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CTTGCCCTGTGGAGAGAGCCA	0.567													A	97333780	G	A	97333780	2	1	81	1	0	0	0	0	0	0	0	1	5706	1335	47	3		3	FBP2	9	97333780	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08		97333780	43879651	35	5376											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900147	112900147	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:112900147T>A	uc004bei.2	+	8	3211	c.3019T>A	c.(3019-3021)Ttt>Att	p.F1007I	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.F585I|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.F633I|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.F633I|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.F593I|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.F544I|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.F544I	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	544							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTCCAAGTCATTTAGTGATCA	0.542													A	112900147	T	A	112900147	3	1	81	1	0	0	0	0	1	0	0	0	11410	1493	52	5	2353	5	PALM2-AKAP2	9	112900147	Missense_Mutation	SNP	T	TCGA-06-2564-01A-01D-1494-08	15566367	112900147	28313284	36	5377											
SVEP1	79987	broad.mit.edu	37	9	113189912	113189912	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:113189912G>T	uc010mtz.3	-	35	6271	c.5934C>A	c.(5932-5934)aaC>aaA	p.N1978K	SVEP1_uc010mty.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1978	Sushi 10.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAAAGTGAAGTTATTCCCCG	0.527											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	113189912	G	T	113189912	3	4	81	1	0	0	0	0	1	0	0	0	15417	1020	36	5	4833	5	SVEP1	9	113189912	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	289765	113189912	28023519	37	5378											
ZNF883	169834	broad.mit.edu	37	9	115759611	115759611	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:115759611C>T	uc011lwy.2	-	4	2168	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CCTCTGATGTCGAATTAGTGA	0.373													T	115759611	C	T	115759611	3	4	81	1	0	0	0	0	1	0	0	0	18195	884	31	2	212	2	ZNF883	9	115759611	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	2569699	115759611	25453820	38	5379											
NR5A1	2516	broad.mit.edu	37	9	127262849	127262849	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:127262849C>T	uc004boo.1	-	3	577	c.390G>A	c.(388-390)ccG>ccA	p.P130P	NR5A1_uc022bnh.1_Silent_p.P130P	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	130					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GAGGGGGCGGCGGGGGCACCC	0.697													T	127262849	C	T	127262849	2	4	81	1	0	0	0	0	0	0	0	1	10635	755	27	1		1	NR5A1	9	127262849	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	11503238	127262849	13950582	39	5380											
PRRG4	79056	broad.mit.edu	37	11	32875008	32875008	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr11:32875008C>T	uc001mtx.3	+	5	877	c.616C>T	c.(616-618)Cca>Tca	p.P206S		NM_024081	NP_076986	Q9BZD6	TMG4_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) (PRRG4), mRNA.	206	Poly-Pro.					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					ACCACCACCACCATATCCTGG	0.438													T	32875008	C	T	32875008	3	4	81	1	0	0	0	0	1	0	0	0	12608	507	18	3	634	3	PRRG4	11	32875008	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		32875008	102131508	40	5381											
TRIM49	57093	broad.mit.edu	37	11	89531694	89531694	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr11:89531694G>A	uc001pdb.3	-	7	1292	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	321	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGTTGCAGTGAAATAGGGTA	0.418													A	89531694	G	A	89531694	2	1	81	1	0	0	0	0	0	0	0	1	16521	1281	45	3		3	TRIM49	11	89531694	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	56656686	89531694	45474822	41	5382											
ENO2	2026	broad.mit.edu	37	12	7026819	7026819	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:7026819C>G	uc001qru.1	+	5	607	c.385C>G	c.(385-387)Ccc>Gcc	p.P129A	ENO2_uc009zfi.1_Missense_Mutation_p.P129A|ENO2_uc010sfq.1_Missense_Mutation_p.P86A|ENO2_uc001qrv.1_Missense_Mutation_p.P129A	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	129					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCGGGAACTGCCCCTGTATCG	0.617													G	7026819	C	G	7026819	3	3	81	1	0	0	0	0	1	0	0	0	5122	739	26	5	403	5	ENO2	12	7026819	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		7026819	126825076	42	5383											
MLL2	8085	broad.mit.edu	37	12	49448322	49448322	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:49448322C>T	uc001rta.4	-	2	389	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	130					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCAGGTTCTCCTAGGTGGGC	0.557			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			T	49448322	C	T	49448322	3	4	81	1	0	0	0	0	1	0	0	0	9621	855	30	3	16432	3	MLL2	12	49448322	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	42421503	49448322	84403573	43	5384											
LRRIQ1	84125	broad.mit.edu	37	12	85492269	85492269	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:85492269C>T	uc001tac.3	+	11	3135	c.3024C>T	c.(3022-3024)ggC>ggT	p.G1008G	LRRIQ1_uc021rbo.1_Silent_p.G886G	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1008										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)		ATGTAGAGGGCGTTGAAAATT	0.343													T	85492269	C	T	85492269	2	4	81	1	0	0	0	0	0	0	0	1	9029	755	27	1		1	LRRIQ1	12	85492269	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	36043947	85492269	48359626	44	5385											
LRRIQ1	84125	broad.mit.edu	37	12	85546073	85546073	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:85546073delG	uc001tac.3	+	19	4456	c.4345delG	c.(4345-4347)gaafs	p.E1449fs		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1449										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)		CTTAGAAGAAGAATGGCTAGC	0.353													-	85546073	G	-	85546073	7	5	81	1	0	1	0	1	0	0	0	0	9029	943	33	0	4423	0	LRRIQ1	12	85546073	Frame_Shift_Del	DEL	G	TCGA-06-2564-01A-01D-1494-08	53804	85546073	48305822	45	5386											
ZNF10	7556	broad.mit.edu	37	12	133732279	133732279	+	Silent	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732279A>G	uc009zzb.3	+	4	894	c.447A>G	c.(445-447)caA>caG	p.Q149Q	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Silent_p.Q149Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	149				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATTTGAGGCAAGTGGCATTCA	0.428													G	133732279	A	G	133732279	2	3	81	1	0	0	0	0	0	0	0	1	17709	69	3	4		4	ZNF10	12	133732279	Silent	SNP	A	TCGA-06-2564-01A-01D-1494-08	48186206	133732279	119616	46	5387			1	17		3	3	182	N	T_A	9.558872e-08
ZNF10	7556	broad.mit.edu	37	12	133732444	133732444	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732444T>A	uc009zzb.3	+	4	1059	c.612T>A	c.(610-612)caT>caA	p.H204Q	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.H204Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	204				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G203G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTAATGGTCATCAGGACAGTT	0.363													A	133732444	T	A	133732444	3	1	81	1	0	0	0	0	1	0	0	0	17709	1432	50	5	626	5	ZNF10	12	133732444	Missense_Mutation	SNP	T	TCGA-06-2564-01A-01D-1494-08	165	133732444	119451	47	5388			1	17		3	3	182	N	T_A	9.558872e-08
ZNF10	7556	broad.mit.edu	37	12	133732460	133732460	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732460A>G	uc009zzb.3	+	4	1075	c.628A>G	c.(628-630)Agt>Ggt	p.S210G	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.S210G	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	210				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CAGTTGTGCAAGTAACAGTAA	0.358													G	133732460	A	G	133732460	3	3	81	1	0	0	0	0	1	0	0	0	17709	72	3	4	642	4	ZNF10	12	133732460	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	16	133732460	119435	48	5389			1	17		3	3	182	N	T_A	9.558872e-08
POTEG	404785	broad.mit.edu	37	14	19553826	19553826	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:19553826G>A	uc001vuz.1	+	0	462	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	137								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACGTCCGTCGAGAAGATCTG	0.577													A	19553826	G	A	19553826	3	1	81	1	0	0	0	0	1	0	0	0	12266	1058	37	2	412	2	POTEG	14	19553826	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		19553826	87795714	49	5390											
POTEG	404785	broad.mit.edu	37	14	19566060	19566060	+	Silent	SNP	C	C	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:19566060C>G	uc001vuz.1	+	5	1156	c.1104C>G	c.(1102-1104)gtC>gtG	p.V368V	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	368								p.V368F(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTAAAAGTCTCTTCTGAAA	0.323													G	19566060	C	G	19566060	2	3	81	1	0	0	0	0	0	0	0	1	12266	900	32	5		5	POTEG	14	19566060	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	12234	19566060	87783480	50	5391											
ADCY4	196883	broad.mit.edu	37	14	24801072	24801072	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:24801072G>A	uc001wow.3	-	3	1010	c.591C>T	c.(589-591)cgC>cgT	p.R197R	ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_Silent_p.R197R|ADCY4_uc001woy.3_Silent_p.R197R	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	197					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			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)		CCCGCAGGGCGCGCTCCATCA	0.667													A	24801072	G	A	24801072	2	1	81	1	0	0	0	0	0	0	0	1	296	1074	38	1		1	ADCY4	14	24801072	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	5235012	24801072	82548468	51	5392											
SYT16	83851	broad.mit.edu	37	14	62547865	62547865	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:62547865G>A	uc001xfu.1	+	3	1504	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	436	C2 1.							p.R416H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTCCGCTTCCGCCTGTACGCT	0.562													A	62547865	G	A	62547865	3	1	81	1	0	0	0	0	1	0	0	0	15469	1087	38	1	1321	1	SYT16	14	62547865	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	37746793	62547865	44801675	52	5393											
C15orf48	84419	broad.mit.edu	37	15	45723253	45723253	+	Missense_Mutation	SNP	G	G	A	rs143173357		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:45723253G>A	uc001zvg.3	+	2	209	c.91G>A	c.(91-93)Gct>Act	p.A31T	C15orf48_uc001zvh.3_Missense_Mutation_p.A31T|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	31						nucleus		p.A31P(2)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		CTCATCTTTCGCTGTGTATTC	0.413													A	45723253	G	A	45723253	3	1	81	1	0	0	0	0	1	0	0	0	1799	1087	38	1	97	1	C15orf48	15	45723253	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		45723253	56808139	53	5394											
CCDC33	80125	broad.mit.edu	37	15	74564064	74564064	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:74564064C>T	uc002axo.3	+	5	961	c.567C>T	c.(565-567)aaC>aaT	p.N189N	CCDC33_uc002axp.3_Silent_p.N11N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	392							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						GGGGAGTCAACGAGCCCCTGG	0.592													T	74564064	C	T	74564064	2	4	81	1	0	0	0	0	0	0	0	1	2806	535	19	1		1	CCDC33	15	74564064	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	28840811	74564064	27967328	54	5395											
CCDC33	80125	broad.mit.edu	37	15	74573074	74573074	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:74573074C>T	uc002axo.3	+	8	1349	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCDC33_uc002axp.3_Missense_Mutation_p.R141C	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	522	C2.						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						GCTAAAGAGCCGTTTGTACCA	0.612													T	74573074	C	T	74573074	3	4	81	1	0	0	0	0	1	0	0	0	2806	652	23	2	989	2	CCDC33	15	74573074	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	9010	74573074	27958318	55	5396											
ITGAX	3687	broad.mit.edu	37	16	31374348	31374348	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr16:31374348C>T	uc002ebt.3	+	12	1519	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	ITGAX_uc002ebu.1_Silent_p.Y484Y|ITGAX_uc010vfk.1_Silent_p.Y134Y	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	484					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCATTACTACGAGCAGACCC	0.677													T	31374348	C	T	31374348	2	4	81	1	0	0	0	0	0	0	0	1	7889	547	19	1		1	ITGAX	16	31374348	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08		31374348	58980405	56	5397											
MYLK3	91807	broad.mit.edu	37	16	46755087	46755087	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr16:46755087C>T	uc002eei.4	-	8	2049	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	MYLK3_uc010vge.2_Missense_Mutation_p.V304I	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	645	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.V724I(1)|p.V645I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTCTGATTGACGCACAATATG	0.448													T	46755087	C	T	46755087	3	4	81	1	0	0	0	0	1	0	0	0	10058	536	19	1	546	1	MYLK3	16	46755087	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	15380739	46755087	43599666	57	5398											
SLC2A4	6517	broad.mit.edu	37	17	7187697	7187697	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:7187697G>A	uc002gfp.3	+	6	927	c.727_splice	c.e6+1	p.S243_splice	SLC2A4_uc010cmd.3_Splice_Site|SLC2A4_uc021tpa.1_Splice_Site_p.S233_splice	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	243					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCCAGAAAGAGTAAGCTCT	0.632													A	7187697	G	A	7187697	2	1	81	1	0	0	0	0	0	0	0	1	14546	956	33	3		3	SLC2A4	17	7187697	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08		7187697	74007513	58	5399											
MYOCD	93649	broad.mit.edu	37	17	12666835	12666835	+	Silent	SNP	G	G	A	rs149918258		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:12666835G>A	uc002gno.2	+	13	3134	c.2835G>A	c.(2833-2835)ccG>ccA	p.P945P	MYOCD_uc002gnn.2_Silent_p.P897P|MYOCD_uc002gnq.2_Silent_p.P621P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	897					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCTCACTCCGCCAAATTCCA	0.512													A	12666835	G	A	12666835	2	1	81	1	0	0	0	0	0	0	0	1	10087	1074	38	1		1	MYOCD	17	12666835	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	5479138	12666835	68528375	59	5400											
RHBDF2	79651	broad.mit.edu	37	17	74473065	74473065	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:74473065C>T	uc002jrq.2	-	8	1343	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	RHBDF2_uc021udh.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrr.1_Missense_Mutation_p.G202D|RHBDF2_uc010wtf.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrs.1_Missense_Mutation_p.G345D	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	350					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GATGCGCTTGCCGCGCCGGGG	0.647													T	74473065	C	T	74473065	3	4	81	1	0	0	0	0	1	0	0	0	13320	739	26	3	1565	3	RHBDF2	17	74473065	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	61806230	74473065	6722145	60	5401											
POLI	11201	broad.mit.edu	37	18	51809324	51809324	+	Missense_Mutation	SNP	G	G	A	rs146107490		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr18:51809324G>A	uc002lfj.4	+	5	982	c.914G>A	c.(913-915)cGt>cAt	p.R305H	POLI_uc010xds.2_Missense_Mutation_p.R226H|POLI_uc002lfk.4_Missense_Mutation_p.R202H|POLI_uc002lfl.1_Missense_Mutation_p.R237H|POLI_uc010dpg.3_5'UTR	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	305					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GTTGCTCAGCGTATCCAAAAG	0.393								DNA polymerases (catalytic subunits)					A	51809324	G	A	51809324	3	1	81	1	0	0	0	0	1	0	0	0	12203	1145	40	1	936	1	POLI	18	51809324	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		51809324	26267924	61	5402											
ZNF77	58492	broad.mit.edu	37	19	2933838	2933838	+	Silent	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:2933838C>T	uc002lws.4	-	3	1418	c.1287G>A	c.(1285-1287)acG>acA	p.T429T		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGTATGCGTCCTCACGT	0.512													T	2933838	C	T	2933838	2	4	81	1	0	0	0	0	0	0	0	1	18139	755	27	1		1	ZNF77	19	2933838	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08		2933838	56195145	62	5403											
TJP3	27134	broad.mit.edu	37	19	3735631	3735631	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:3735631C>T	uc010xhv.2	+	7	1153	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W	TJP3_uc010xhs.2_Missense_Mutation_p.R352W|TJP3_uc010xht.2_Missense_Mutation_p.R316W|TJP3_uc010xhu.2_Missense_Mutation_p.R361W|TJP3_uc010xhw.2_Missense_Mutation_p.R371W	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	366						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGAGCAACGGTCAGGTGG	0.602													T	3735631	C	T	3735631	3	4	81	1	0	0	0	0	1	0	0	0	15928	527	19	1	1183	1	TJP3	19	3735631	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	801793	3735631	55393352	63	5404											
SH2D3A	10045	broad.mit.edu	37	19	6760704	6760704	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:6760704G>A	uc002mft.3	-	2	558	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	122					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CTAAAGCTGCGTCGCAGAGGC	0.612													A	6760704	G	A	6760704	3	1	81	1	0	0	0	0	1	0	0	0	14233	1145	40	1	1398	1	SH2D3A	19	6760704	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	3025073	6760704	52368279	64	5405											
FBN3	84467	broad.mit.edu	37	19	8154483	8154483	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:8154483G>A	uc002mjf.3	-	49	6339	c.6322C>T	c.(6322-6324)Cgc>Tgc	p.R2108C	FBN3_uc002mje.3_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2108	EGF-like 33; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACTCACAGCGGAAGGATCCA	0.607													A	8154483	G	A	8154483	3	1	81	1	0	0	0	0	1	0	0	0	5704	1116	39	2	2163	2	FBN3	19	8154483	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	1393779	8154483	50974500	65	5406											
DDX49	54555	broad.mit.edu	37	19	19030579	19030579	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:19030579C>T	uc002nkq.2	+	0	96	c.29C>T	c.(28-30)tCa>tTa	p.S10L	COPE_uc002nkl.3_5'Flank|COPE_uc002nkk.3_5'Flank|COPE_uc002nkm.3_5'Flank|HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_5'UTR|DDX49_uc002nkr.2_Non-coding_Transcript|DDX49_uc002nkt.1_5'Flank	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.	10							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CTCGGGCTGTCATCGTGGCTC	0.677													T	19030579	C	T	19030579	3	4	81	1	0	0	0	0	1	0	0	0	4366	838	29	3	31	3	DDX49	19	19030579	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	10876096	19030579	40098404	66	5407											
TSHZ3	57616	broad.mit.edu	37	19	31767726	31767726	+	Silent	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:31767726G>A	uc002nsy.4	-	1	3038	c.2973C>T	c.(2971-2973)taC>taT	p.Y991Y		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	991					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			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)					GGTGACTGATGTACGTGGAAG	0.488													A	31767726	G	A	31767726	2	1	81	1	0	0	0	0	0	0	0	1	16622	1372	48	3		3	TSHZ3	19	31767726	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	12737147	31767726	27361257	67	5408											
VASP	7408	broad.mit.edu	37	19	46027874	46027874	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:46027874A>G	uc002pcg.3	+	10	1345	c.1003A>G	c.(1003-1005)Acg>Gcg	p.T335A	VASP_uc002pci.3_Missense_Mutation_p.T321A	NM_003370	NP_003361	P50552	VASP_HUMAN	Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA.	335	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CCAACCCTGCACGCCCAGCTC	0.562													G	46027874	A	G	46027874	3	3	81	1	0	0	0	0	1	0	0	0	17125	159	6	4	1045	4	VASP	19	46027874	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	14260148	46027874	13101109	68	5409											
CSE1L	1434	broad.mit.edu	37	20	47688965	47688965	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr20:47688965C>T	uc002xty.3	+	8	1045	c.911C>T	c.(910-912)aCg>aTg	p.T304M	CSE1L_uc010zyg.2_Missense_Mutation_p.T87M|CSE1L_uc010ghx.3_Intron|CSE1L_uc010ghy.3_5'UTR|CSE1L_uc010zyh.2_5'Flank	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	304					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTAGTTACAACGGGTCAAGAG	0.383													T	47688965	C	T	47688965	3	4	81	1	0	0	0	0	1	0	0	0	3930	536	19	1	941	1	CSE1L	20	47688965	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		47688965	15336555	69	5410											
UCKL1	54963	broad.mit.edu	37	20	62571796	62571796	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr20:62571796C>T	uc010gkn.3	-	12	1420	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	UCKL1_uc011abm.2_Missense_Mutation_p.V434M|UCKL1_uc011abn.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	449					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	p.H448Q(1)		endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGAGGATCACGTGGTCATCG	0.677													T	62571796	C	T	62571796	3	4	81	1	0	0	0	0	1	0	0	0	16922	536	19	1	313	1	UCKL1	20	62571796	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	14882831	62571796	453724	70	5411											
KRTAP10-4	386672	broad.mit.edu	37	21	45993777	45993777	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr21:45993777G>A	uc002zfk.1	+	0	172	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	48	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGCTGCTGCGCCCCGGCCCC	0.701													A	45993777	G	A	45993777	3	1	81	1	0	0	0	0	1	0	0	0	8511	1087	38	1	144	1	KRTAP10-4	21	45993777	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		45993777	2136118	71	5412											
CACNA1I	8911	broad.mit.edu	37	22	40080363	40080363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:40080363G>T	uc003ayc.3	+	35	5887	c.5887G>T	c.(5887-5889)Gag>Tag	p.E1963*	CACNA1I_uc003ayd.3_Nonsense_Mutation_p.E1928*|CACNA1I_uc003aye.3_Nonsense_Mutation_p.E1878*|CACNA1I_uc003ayf.3_Nonsense_Mutation_p.E1843*	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1963					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)	CATGCCAGCCGAGTTCTTCCA	0.637													T	40080363	G	T	40080363	4	4	81	1	0	0	0	0	0	1	0	0	2546	1059	37	5	6029	5	CACNA1I	22	40080363	Nonsense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		40080363	11224203	72	5413											
CSDC2	27254	broad.mit.edu	37	22	41969718	41969718	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:41969718C>T	uc003bak.1	+	2	533	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN	Homo sapiens cold shock domain containing C2, RNA binding (CSDC2), mRNA.	79	CSD.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding			prostate(2)|upper_aerodigestive_tract(1)	3						TTCTCACGCTCACAGGGCCAT	0.612													T	41969718	C	T	41969718	3	4	81	1	0	0	0	0	1	0	0	0	3928	838	29	3	242	3	CSDC2	22	41969718	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	1889355	41969718	9334848	73	5414											
P2RY8	286530	broad.mit.edu	37	X	1584460	1584460	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chrX:1584460G>A	uc022brv.1	-	0	992	c.992C>T	c.(991-993)aCg>aTg	p.T331M	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.T331M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	331						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				GCGCACGGACGTGGTCCTGGC	0.701			T	CRLF2	"B-ALL, Downs associated ALL"								A	1584460	G	A	1584460	3	1	81	1	0	0	0	0	1	0	0	0	11355	1145	40	1	91	1	P2RY8	23	1584460	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		1584460	153686100	74	5415											
RGAG1	57529	broad.mit.edu	37	X	109694900	109694900	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chrX:109694900C>T	uc004eor.2	+	2	1301	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	RGAG1_uc011msr.1_Missense_Mutation_p.T352M	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	352										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCACTAATGACGGCCCTACCC	0.537													T	109694900	C	T	109694900	3	4	81	1	0	0	0	0	1	0	0	0	13274	536	19	1	1057	1	RGAG1	23	109694900	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	108110440	109694900	45575660	75	5416											
LRRC40	55631	broad.mit.edu	37	1	70611582	70611582	+	Silent	SNP	T	T	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:70611582T>C	uc001der.2	-	14	1848	c.1710A>G	c.(1708-1710)ttA>ttG	p.L570L		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	570										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CATCCAGTAGTAATGTTCTAA	0.313													C	70611582	T	C	70611582	2	2	82	1	0	0	0	0	0	0	0	1	8998	1635	57	4		4	LRRC40	1	70611582	Silent	SNP	T	TCGA-06-2565-01A-01D-1494-08		70611582	178639039	1	5417											
IQGAP3	128239	broad.mit.edu	37	1	156497822	156497822	+	Silent	SNP	C	C	T	rs144640189	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:156497822C>T	uc001fpf.3	-	36	4779	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1568					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.T1567T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCATCTCCCGGCGTGATGT	0.512													T	156497822	C	T	156497822	2	4	82	1	0	0	0	0	0	0	0	1	7816	639	23	2		2	IQGAP3	1	156497822	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	85886240	156497822	92752799	2	5418											
SELP	6403	broad.mit.edu	37	1	169562878	169562878	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:169562878A>G	uc001ggi.4	-	13	2437	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	SELP_uc001ggh.3_Intron|SELP_uc009wvr.3_Missense_Mutation_p.L790P	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	791					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.T790M(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)	CAAAGCCAGGAGCGTCCCACC	0.413													G	169562878	A	G	169562878	3	3	82	1	0	0	0	0	1	0	0	0	14019	304	11	4	132	4	SELP	1	169562878	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08	13065056	169562878	79687743	3	5419											
CRB1	23418	broad.mit.edu	37	1	197407699	197407699	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:197407699G>A	uc001gtz.3	+	9	3981	c.3772G>A	c.(3772-3774)Gtc>Atc	p.V1258I	CRB1_uc010poz.2_Missense_Mutation_p.V1234I|CRB1_uc009wza.3_Missense_Mutation_p.V1146I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.V722I|CRB1_uc010ppd.2_Missense_Mutation_p.V739I|CRB1_uc001gub.1_Missense_Mutation_p.V907I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1258	EGF-like 18.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACCCTCAACAGTCTGTGGGAA	0.413													A	197407699	G	A	197407699	3	1	82	1	0	0	0	0	1	0	0	0	3848	1029	36	3	3810	3	CRB1	1	197407699	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	27844821	197407699	51842922	4	5420											
CACNA1S	779	broad.mit.edu	37	1	201028369	201028369	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:201028369G>A	uc001gvv.3	-	26	3700	c.3473C>T	c.(3472-3474)aCt>aTt	p.T1158I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1158					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAAGATGATAGTGAAGGCCAC	0.597													A	201028369	G	A	201028369	3	1	82	1	0	0	0	0	1	0	0	0	2547	1029	36	3	2220	3	CACNA1S	1	201028369	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	3620670	201028369	48222252	5	5421											
OBSCN	84033	broad.mit.edu	37	1	228473808	228473808	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:228473808G>A	uc009xez.1	+	33	9078	c.9034G>A	c.(9034-9036)Gag>Aag	p.E3012K	OBSCN_uc001hsn.3_Missense_Mutation_p.E3012K|OBSCN_uc001hsq.1_Missense_Mutation_p.E268K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3012	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAGGACCTGGAGGATGTGGA	0.647													A	228473808	G	A	228473808	3	1	82	1	0	0	0	0	1	0	0	0	10812	1175	41	3	9164	3	OBSCN	1	228473808	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	27445439	228473808	20776813	6	5422											
TRIM58	25893	broad.mit.edu	37	1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:248028031C>T	uc001ido.3	+	2	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592													T	248028031	C	T	248028031	3	4	82	1	0	0	0	0	1	0	0	0	16528	768	27	1	551	1	TRIM58	1	248028031	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	19554223	248028031	1222590	7	5423											
GALNT14	79623	broad.mit.edu	37	2	31178570	31178570	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:31178570C>T	uc002rns.3	-	6	1223	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	GALNT14_uc002rnq.3_Missense_Mutation_p.A170T|GALNT14_uc010ymr.2_Missense_Mutation_p.A155T|GALNT14_uc002rnr.3_Missense_Mutation_p.A190T|GALNT14_uc010ezo.2_Missense_Mutation_p.A157T|GALNT14_uc010ezp.1_Missense_Mutation_p.A161T	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	190	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			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)					GTGCCCTGGGCGATGTCAGCG	0.597													T	31178570	C	T	31178570	3	4	82	1	0	0	0	0	1	0	0	0	6212	768	27	1	1130	1	GALNT14	2	31178570	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		31178570	212020803	8	5424											
LTBP1	4052	broad.mit.edu	37	2	33482448	33482448	+	Silent	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:33482448A>G	uc021vft.1	+	11	2288	c.2265A>G	c.(2263-2265)gtA>gtG	p.V755V	LTBP1_uc002rou.3_Silent_p.V429V|LTBP1_uc002rov.3_Intron|LTBP1_uc010ymz.2_Silent_p.V429V|LTBP1_uc010yna.2_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	755					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGACCTGTATTTGTCAAGC	0.502													G	33482448	A	G	33482448	2	3	82	1	0	0	0	0	0	0	0	1	9073	436	16	4		4	LTBP1	2	33482448	Silent	SNP	A	TCGA-06-2565-01A-01D-1494-08	2303878	33482448	209716925	9	5425											
ZAP70	7535	broad.mit.edu	37	2	98351132	98351132	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:98351132G>A	uc002syd.1	+	8	1246	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.G237S|ZAP70_uc002syf.1_Missense_Mutation_p.G40S	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	347	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACTTGGCTGCGGCAACTTTGG	0.622													A	98351132	G	A	98351132	3	1	82	1	0	0	0	0	1	0	0	0	17511	1116	39	2	1065	2	ZAP70	2	98351132	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	64868684	98351132	144848241	10	5426											
GCC2	9648	broad.mit.edu	37	2	109092033	109092033	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:109092033A>G	uc002tec.3	+	7	3057	c.2903A>G	c.(2902-2904)aAt>aGt	p.N968S	GCC2_uc002ted.3_Missense_Mutation_p.N867S	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	968					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAAAATAAATAAGATAAAA	0.299													G	109092033	A	G	109092033	3	3	82	1	0	0	0	0	1	0	0	0	6286	101	4	4	2933	4	GCC2	2	109092033	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08	10740901	109092033	134107340	11	5427											
KIF5C	3800	broad.mit.edu	37	2	149866823	149866823	+	Silent	SNP	C	C	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:149866823C>A	uc010zbu.2	+	23	3120	c.2725C>A	c.(2725-2727)Cgg>Agg	p.R909R	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Silent_p.R191R	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	909	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGCCGTGCGGGCCAAGAA	0.632													A	149866823	C	A	149866823	2	1	82	1	0	0	0	0	0	0	0	1	8307	759	27	5		5	KIF5C	2	149866823	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	40774790	149866823	93332550	12	5428											
ZNF860	344787	broad.mit.edu	37	3	32030908	32030908	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:32030908G>C	uc011axg.2	+	1	886	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	ZNF860_uc021wuv.1_Missense_Mutation_p.E113Q	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TCATGACTTTGAGTTTCAATG	0.388													C	32030908	G	C	32030908	3	2	82	1	0	0	0	0	1	0	0	0	18191	1291	45	5	339	5	ZNF860	3	32030908	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		32030908	165991522	13	5429											
SCN5A	6331	broad.mit.edu	37	3	38639416	38639416	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:38639416C>T	uc021wvo.1	-	12	2118	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	SCN5A_uc021wvk.1_Missense_Mutation_p.R689H|SCN5A_uc021wvl.1_Missense_Mutation_p.R689H|SCN5A_uc021wvm.1_Missense_Mutation_p.R689H|SCN5A_uc021wvn.1_Missense_Mutation_p.R689H|SCN5A_uc021wvp.1_Missense_Mutation_p.R689H|SCN5A_uc021wvq.1_Missense_Mutation_p.R689H|SCN5A_uc021wvr.1_Missense_Mutation_p.R689H|SCN5A_uc021wvs.1_Missense_Mutation_p.R689H|SCN5A_uc021wvt.1_Missense_Mutation_p.R689H|SCN5A_uc021wvu.1_Missense_Mutation_p.R689H|SCN5A_uc021wvv.1_Missense_Mutation_p.R689H|SCN5A_uc021wvj.1_Missense_Mutation_p.R555H|SCN5A_uc021wvi.1_Missense_Mutation_p.R555H|SCN5A_uc021wvw.1_Missense_Mutation_p.R300H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	689					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGGCGAGACGGTTCCAGCA	0.537													T	38639416	C	T	38639416	3	4	82	1	0	0	0	0	1	0	0	0	13922	536	19	1	4044	1	SCN5A	3	38639416	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	6608508	38639416	159383014	14	5430											
GPR27	2850	broad.mit.edu	37	3	71804047	71804047	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:71804047T>G	uc011bge.2	+	0	847	c.847T>G	c.(847-849)Tgc>Ggc	p.C283G	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	283						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C283G(2)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GAAGAGGCTGTGCAAGATGTT	0.721													G	71804047	T	G	71804047	3	3	82	1	0	0	0	0	1	0	0	0	6685	1696	59	5	849	5	GPR27	3	71804047	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	33164631	71804047	126218383	15	5431											
CD96	10225	broad.mit.edu	37	3	111356989	111356989	+	Missense_Mutation	SNP	C	C	T	rs140955483		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:111356989C>T	uc003dxw.3	+	12	1669	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	CD96_uc003dxx.3_Missense_Mutation_p.T484M|CD96_uc010hpy.1_Missense_Mutation_p.T483M	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	500	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.T500A(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AATGGATCTACGAAAACTAAT	0.388									Opitz Trigonocephaly syndrome				T	111356989	C	T	111356989	3	4	82	1	0	0	0	0	1	0	0	0	3048	536	19	1	1549	1	CD96	3	111356989	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	39552942	111356989	86665441	16	5432											
TNK2	10188	broad.mit.edu	37	3	195599202	195599203	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:195599202_195599203delCT	uc003fvu.1	-	9	1938_1939	c.1395_1396delAG	c.(1393-1398)acagggfs	p.T465fs	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Del_p.T497fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.T528fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Frame_Shift_Del_p.T295fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	465	CRIB.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCGCCATGCCCTGTGTGGATGA	0.673													-	195599203	CT	-	195599202	7	5	82	1	0	1	0	1	0	0	0	0	16315	681	24	0	1793	0	TNK2	3	195599202	Frame_Shift_Del	DEL	CT	TCGA-06-2565-01A-01D-1494-08	84242213	195599202	2423228	17	5433											
PKD2	5311	broad.mit.edu	37	4	88987002	88987002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr4:88987002C>T	uc003hre.3	+	11	2416	c.2329C>T	c.(2329-2331)Cag>Tag	p.Q777*	PKD2_uc011cdf.2_Nonsense_Mutation_p.Q195*|PKD2_uc011cdg.2_Nonsense_Mutation_p.Q103*|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	777	EF-hand domain.|EF-hand.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGAACATCAGCAGATGAGAGA	0.443													T	88987002	C	T	88987002	4	4	82	1	0	0	0	0	0	1	0	0	11966	711	25	3	2375	3	PKD2	4	88987002	Nonsense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		88987002	102167274	18	5434											
TERT	7015	broad.mit.edu	37	5	1279521	1279521	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:1279521C>T	uc003jcb.1	-	4	2073	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.R672H|TERT_uc003jca.1_Missense_Mutation_p.R672H|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.R124H	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	672	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.R672H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGGCCGGGGCGCCGCGCCCG	0.697									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				T	1279521	C	T	1279521	3	4	82	1	0	0	0	0	1	0	0	0	15761	768	27	1	1431	1	TERT	5	1279521	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		1279521	179635739	19	5435											
ADAMTS16	170690	broad.mit.edu	37	5	5222920	5222920	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:5222920T>G	uc003jdl.3	+	10	1762	c.1624T>G	c.(1624-1626)Tgg>Ggg	p.W542G	ADAMTS16_uc003jdk.1_Missense_Mutation_p.W542G|ADAMTS16_uc003jdj.1_Missense_Mutation_p.W542G	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	542	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TAAAGCCCTGTGGTGCCATCG	0.358													G	5222920	T	G	5222920	3	3	82	1	0	0	0	0	1	0	0	0	261	1696	59	5	1666	5	ADAMTS16	5	5222920	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	3943399	5222920	175692340	20	5436											
BASP1	10409	broad.mit.edu	37	5	17275820	17275820	+	Silent	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:17275820C>T	uc003jfx.3	+	1	674	c.495C>T	c.(493-495)gaC>gaT	p.D165D	BASP1_uc021xws.1_Silent_p.D165D	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	165					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			endometrium(1)|lung(8)	9						CCAAAAGTGACGGGGCCCCAG	0.682													T	17275820	C	T	17275820	2	4	82	1	0	0	0	0	0	0	0	1	1317	535	19	1		1	BASP1	5	17275820	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	12052900	17275820	163639440	21	5437											
FBN2	2201	broad.mit.edu	37	5	127728882	127728882	+	Missense_Mutation	SNP	C	C	T	rs138046782		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:127728882C>T	uc003kuu.3	-	9	1850	c.1411G>A	c.(1411-1413)Gtt>Att	p.V471I	FBN2_uc003kuv.2_Missense_Mutation_p.V438I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	471					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.V471I(3)|p.G470G(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTCCCCCAACGCCAGGAGAA	0.577													T	127728882	C	T	127728882	3	4	82	1	0	0	0	0	1	0	0	0	5703	536	19	1	7551	1	FBN2	5	127728882	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	110453062	127728882	53186378	22	5438											
PCDHGC5	56114	broad.mit.edu	37	5	140711985	140711985	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:140711985G>A	uc003lji.2	+	0	1734	c.1734G>A	c.(1732-1734)gcG>gcA	p.A578A	PCDHGC5_uc011dan.2_Silent_p.A578A	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	579	Cadherin 6.				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)			TGGAGCTGGCGCCCCTCTCCG	0.657													A	140711985	G	A	140711985	2	1	82	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHGC5	5	140711985	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08	12983103	140711985	40203275	23	5439											
SPINK6	404203	broad.mit.edu	37	5	147585617	147585617	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:147585617G>A	uc003lpa.3	+	1	380	c.77G>A	c.(76-78)gGa>gAa	p.G26E	SPINK6_uc021yff.1_Missense_Mutation_p.G26E	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA.	26	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCAGGGAGGACAGGTCAGT	0.383													A	147585617	G	A	147585617	3	1	82	1	0	0	0	0	1	0	0	0	15062	1174	41	3	83	3	SPINK6	5	147585617	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	6873632	147585617	33329643	24	5440											
GPR116	221395	broad.mit.edu	37	6	46826170	46826170	+	Missense_Mutation	SNP	G	G	A	rs141322343	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr6:46826170G>A	uc003oyo.3	-	16	3759	c.3470C>T	c.(3469-3471)aCg>aTg	p.T1157M	GPR116_uc011dwj.1_Missense_Mutation_p.T712M|GPR116_uc011dwk.1_Missense_Mutation_p.T586M|GPR116_uc003oyp.3_Missense_Mutation_p.T1015M|GPR116_uc003oyq.3_Missense_Mutation_p.T1157M|GPR116_uc010jzi.1_Missense_Mutation_p.T829M	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1157					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTCTTCCTCGTATAGACTTC	0.557													A	46826170	G	A	46826170	3	1	82	1	0	0	0	0	1	0	0	0	6633	1145	40	1	590	1	GPR116	6	46826170	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		46826170	124288897	25	5441											
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211080	G	A	55211080	3	1	82	1	0	0	0	0	1	0	0	0	4967	942	33	3	333	3	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		55211080	103927583	26	5442											
EGFR	1956	broad.mit.edu	37	7	55240690	55240690	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:55240690C>G	uc003tqk.3	+	16	2180	c.1934C>G	c.(1933-1935)tCc>tGc	p.S645C	EGFR_uc022adm.1_Missense_Mutation_p.S645C|EGFR_uc010kzg.2_Missense_Mutation_p.S600C|EGFR_uc022adn.1_Missense_Mutation_p.S600C|EGFR_uc011kco.2_Missense_Mutation_p.S592C	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	645					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGATCCCGTCCATCGCCACT	0.612		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55240690	C	G	55240690	3	3	82	1	0	0	0	0	1	0	0	0	4967	855	30	5	2264	5	EGFR	7	55240690	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	29610	55240690	103897973	27	5443											
TYW1	55253	broad.mit.edu	37	7	66482862	66482862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:66482862G>A	uc003tvn.3	+	5	742	c.593G>A	c.(592-594)tGg>tAg	p.W198*	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	198	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GTTGACAAGTGGCTCTGGATG	0.512													A	66482862	G	A	66482862	4	1	82	1	0	0	0	0	0	1	0	0	16815	1357	47	3	615	3	TYW1	7	66482862	Nonsense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	11242172	66482862	92655801	28	5444											
CD36	948	broad.mit.edu	37	7	80290463	80290463	+	Silent	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:80290463C>T	uc003uhc.3	+	7	1050	c.366C>T	c.(364-366)ttC>ttT	p.F122F	CD36_uc011kgv.2_Silent_p.F46F|CD36_uc003uhd.4_Silent_p.F122F|CD36_uc003uhe.4_Silent_p.F122F|CD36_uc003uhf.4_Silent_p.F122F|CD36_uc003uhg.4_Silent_p.F122F|CD36_uc003uhh.4_Silent_p.F122F|CD36_uc022agu.1_Silent_p.F122F|CD36_uc022agv.1_Silent_p.F122F	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	122					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTGCCATCTTCGAACCTTCAC	0.428													T	80290463	C	T	80290463	2	4	82	1	0	0	0	0	0	0	0	1	3007	883	31	2		2	CD36	7	80290463	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	13807601	80290463	78848200	29	5445											
SEMA3E	9723	broad.mit.edu	37	7	83034830	83034830	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:83034830delC	uc003uhy.2	-	8	1555	c.934delG	c.(934-936)gttfs	p.V312fs	SEMA3E_uc022agy.1_Frame_Shift_Del_p.V252fs	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	312	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.D311Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGCAAAAAAACGTCCTCTGAA	0.313													-	83034830	C	-	83034830	7	5	82	1	0	1	0	1	0	0	0	0	14028	536	19	0	1429	0	SEMA3E	7	83034830	Frame_Shift_Del	DEL	C	TCGA-06-2565-01A-01D-1494-08	2744367	83034830	76103833	30	5446											
ANK1	286	broad.mit.edu	37	8	41521227	41521227	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:41521227C>T	uc003xok.3	-	39	5512	c.5428G>A	c.(5428-5430)Gtg>Atg	p.V1810M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.V964M|ANK1_uc003xoi.3_Missense_Mutation_p.V1810M|ANK1_uc003xoj.3_Missense_Mutation_p.V1810M|ANK1_uc003xol.3_Missense_Mutation_p.V1648M|ANK1_uc003xom.3_Missense_Mutation_p.V1851M|ANK1_uc003xof.3_Missense_Mutation_p.V85M|ANK1_uc011lcl.2_Missense_Mutation_p.V85M|ANK1_uc003xod.3_Missense_Mutation_p.V85M|ANK1_uc003xoc.3_Missense_Mutation_p.V85M	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1810	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCTCTGTCACCTGCTCCCCT	0.537													T	41521227	C	T	41521227	3	4	82	1	0	0	0	0	1	0	0	0	620	507	18	3	332	3	ANK1	8	41521227	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		41521227	104842795	31	5447											
RP1	6101	broad.mit.edu	37	8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:55537454C>T	uc003xsd.1	+	3	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	338					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			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)			GATGAAAGTTCGATTCAGAAT	0.328													T	55537454	C	T	55537454	4	4	82	1	0	0	0	0	0	1	0	0	13532	876	31	2	1022	2	RP1	8	55537454	Nonsense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	14016227	55537454	90826568	32	5448											
SLCO5A1	81796	broad.mit.edu	37	8	70650427	70650427	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:70650427G>T	uc003xyl.3	-	4	1978	c.1271C>A	c.(1270-1272)gCa>gAa	p.A424E	SLCO5A1_uc010lzb.3_Intron|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.A424E|SLCO5A1_uc010lzc.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	424						integral to membrane|plasma membrane	transporter activity			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)			CCTGACAGCTGCTCTTGGTAG	0.348													T	70650427	G	T	70650427	3	4	82	1	0	0	0	0	1	0	0	0	14731	1319	46	5	1299	5	SLCO5A1	8	70650427	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	15112973	70650427	75713595	33	5449											
KLF10	7071	broad.mit.edu	37	8	103662460	103662460	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:103662460G>A	uc011lhk.1	-	3	1497	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	KLF10_uc011lhj.1_Missense_Mutation_p.A437V	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	448					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGGCGCCGGGCATGCTTGGT	0.542													A	103662460	G	A	103662460	3	1	82	1	0	0	0	0	1	0	0	0	8338	1203	42	3	103	3	KLF10	8	103662460	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	33012033	103662460	42701562	34	5450											
HEMGN	55363	broad.mit.edu	37	9	100698486	100698486	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr9:100698486A>G	uc004axy.3	-	1	248	c.140T>C	c.(139-141)gTg>gCg	p.V47A	HEMGN_uc004axz.3_Missense_Mutation_p.V47A	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	47	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTTTTCATGCACTTCAGCTTT	0.348													G	100698486	A	G	100698486	3	3	82	1	0	0	0	0	1	0	0	0	7050	159	6	4	1326	4	HEMGN	9	100698486	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08		100698486	40514945	35	5451											
PTCHD3	374308	broad.mit.edu	37	10	27702648	27702648	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:27702648C>T	uc001itu.2	-	0	650	c.532G>A	c.(532-534)Gcc>Acc	p.A178T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	178					spermatid development	integral to membrane	hedgehog receptor activity	p.P177L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCGCCTTGGCCGGGCTCCCC	0.632													T	27702648	C	T	27702648	3	4	82	1	0	0	0	0	1	0	0	0	12734	739	26	3	1787	3	PTCHD3	10	27702648	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		27702648	107832099	36	5452											
DNA2	1763	broad.mit.edu	37	10	70196997	70196997	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:70196997C>T	uc021pru.1	-	10	1674	c.1674_splice	c.e10-1	p.M558_splice	DNA2_uc021prt.1_Splice_Site_p.M558_splice|DNA2_uc001jog.2_Splice_Site_p.M472_splice|DNA2_uc001joh.2_Splice_Site	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	472					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CCACTCTTCTCCCTATGAAAA	0.343													T	70196997	C	T	70196997	3	4	82	1	0	0	0	0	1	0	0	0	4596	869	30	3	1813	3	DNA2	10	70196997	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	42494349	70196997	65337750	37	5453											
PTEN	5728	broad.mit.edu	37	10	89692818	89692818	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:89692818T>C	uc001kfb.3	+	4	1334	c.302T>C	c.(301-303)aTc>aCc	p.I101T	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	101	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.I101T(14)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.I101del(2)|p.I101N(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.I101M(1)|p.I101I(1)|p.I101fs*10(1)|p.F56fs*2(1)|p.(L100)fs(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGAACTTATCAAACCCTTT	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692818	T	C	89692818	3	2	82	1	0	0	0	0	1	0	0	0	12738	1435	50	4	320	4	PTEN	10	89692818	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	19495821	89692818	45841929	38	5454											
FAM178A	55719	broad.mit.edu	37	10	102697209	102697209	+	Silent	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:102697209A>G	uc001krs.3	+	9	3029	c.2487A>G	c.(2485-2487)acA>acG	p.T829T	FAM178A_uc001krt.4_Silent_p.T829T	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	829																	TTTTAAGTACATTGATGGAAA	0.308													G	102697209	A	G	102697209	2	3	82	1	0	0	0	0	0	0	0	1	5503	204	8	4		4	FAM178A	10	102697209	Silent	SNP	A	TCGA-06-2565-01A-01D-1494-08	13004391	102697209	32837538	39	5455											
OR56A3	390083	broad.mit.edu	37	11	5969282	5969282	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:5969282G>A	uc010qzt.2	+	0	706	c.706G>A	c.(706-708)Ggt>Agt	p.G236S		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGGCAGAGGGTGCCGTGGC	0.522													A	5969282	G	A	5969282	3	1	82	1	0	0	0	0	1	0	0	0	11134	1232	43	3	708	3	OR56A3	11	5969282	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		5969282	129037234	40	5456											
MLL	4297	broad.mit.edu	37	11	118376191	118376191	+	Missense_Mutation	SNP	C	C	T	rs147412214		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:118376191C>T	uc001pta.3	+	26	9598	c.9575C>T	c.(9574-9576)cCg>cTg	p.P3192L	MLL_uc001ptb.3_Missense_Mutation_p.P3195L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3192					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAGCCTCCTCCGGATCCCCAA	0.507			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								T	118376191	C	T	118376191	3	4	82	1	0	0	0	0	1	0	0	0	9620	652	23	2	9681	2	MLL	11	118376191	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	112406909	118376191	16630325	41	5457											
CD163L1	283316	broad.mit.edu	37	12	7531814	7531814	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:7531814C>T	uc010sge.2	-	8	2187	c.2161G>A	c.(2161-2163)Gtg>Atg	p.V721M	CD163L1_uc001qsy.3_Missense_Mutation_p.V711M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	711	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAATTCCCACGGCACCCTGG	0.502													T	7531814	C	T	7531814	3	4	82	1	0	0	0	0	1	0	0	0	2968	536	19	1	2274	1	CD163L1	12	7531814	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		7531814	126320081	42	5458											
NCKAP1L	3071	broad.mit.edu	37	12	54914540	54914540	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:54914540G>A	uc001sgc.4	+	16	1767	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	NCKAP1L_uc010sox.2_Missense_Mutation_p.R105H|NCKAP1L_uc010soy.2_Missense_Mutation_p.R513H	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	563					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCATGTTGCGTTATGCCATT	0.458													A	54914540	G	A	54914540	3	1	82	1	0	0	0	0	1	0	0	0	10222	1145	40	1	1754	1	NCKAP1L	12	54914540	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	47382726	54914540	78937355	43	5459											
CCT2	10576	broad.mit.edu	37	12	69987309	69987309	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:69987309C>T	uc001svb.1	+	9	992	c.898C>T	c.(898-900)Cct>Tct	p.P300S	CCT2_uc010stl.1_Missense_Mutation_p.P253S	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	300					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	p.P300S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTATAATTATCCTGAACAGCT	0.353													T	69987309	C	T	69987309	3	4	82	1	0	0	0	0	1	0	0	0	2953	855	30	3	936	3	CCT2	12	69987309	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	15072769	69987309	63864586	44	5460											
UHRF1BP1L	23074	broad.mit.edu	37	12	100478382	100478382	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:100478382C>G	uc001tgq.3	-	9	1389	c.1160G>C	c.(1159-1161)gGa>gCa	p.G387A	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.G387A|UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.G37A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	387										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATTGGCCCATCCATTTTTTGT	0.353													G	100478382	C	G	100478382	3	3	82	1	0	0	0	0	1	0	0	0	16966	855	30	5	3306	5	UHRF1BP1L	12	100478382	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	30491073	100478382	33373513	45	5461											
NOS1	4842	broad.mit.edu	37	12	117655934	117655934	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:117655934G>A	uc001twn.2	-	28	5019	c.4308C>T	c.(4306-4308)gtC>gtT	p.V1436V	NOS1_uc021ren.1_Silent_p.V1066V|NOS1_uc021reo.1_Silent_p.V1066V|NOS1_uc001twm.2_Silent_p.V1402V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1402					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCGCAGGGTGACTCCAAAAA	0.483													A	117655934	G	A	117655934	2	1	82	1	0	0	0	0	0	0	0	1	10541	1277	45	3		3	NOS1	12	117655934	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08	17177552	117655934	16195961	46	5462											
SOCS4	122809	broad.mit.edu	37	14	55510054	55510054	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:55510054G>A	uc021rti.1	+	0	295	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	SOCS4_uc001xbo.3_Missense_Mutation_p.V99M|SOCS4_uc001xbp.3_Missense_Mutation_p.V99M	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	99					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GCAAGATGCCGTGGGGCAGTG	0.423													A	55510054	G	A	55510054	3	1	82	1	0	0	0	0	1	0	0	0	14916	1145	40	1	297	1	SOCS4	14	55510054	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		55510054	51839486	47	5463											
DACT1	51339	broad.mit.edu	37	14	59113060	59113060	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:59113060C>A	uc001xdw.3	+	3	1883	c.1719C>A	c.(1717-1719)caC>caA	p.H573Q	DACT1_uc010trv.2_Missense_Mutation_p.H292Q|DACT1_uc001xdx.3_Missense_Mutation_p.H536Q|DACT1_uc010trw.2_Missense_Mutation_p.H292Q	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	573					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACCGGGGCCACAGGAACATGG	0.657													A	59113060	C	A	59113060	3	1	82	1	0	0	0	0	1	0	0	0	4222	477	17	5	1733	5	DACT1	14	59113060	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	3603006	59113060	48236480	48	5464											
ZFYVE26	23503	broad.mit.edu	37	14	68274397	68274397	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:68274397G>A	uc001xka.2	-	4	743	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.R202W|ZFYVE26_uc010tta.2_Missense_Mutation_p.R202W	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	202					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.R202L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612													A	68274397	G	A	68274397	3	1	82	1	0	0	0	0	1	0	0	0	17665	1086	38	1	7167	1	ZFYVE26	14	68274397	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	9161337	68274397	39075143	49	5465											
CKB	1152	broad.mit.edu	37	14	103986328	103986328	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:103986328T>G	uc001ynf.2	-	7	1125	c.1019A>C	c.(1018-1020)gAc>gCc	p.D340A		NM_001823	NP_001814	P12277	KCRB_HUMAN	Homo sapiens creatine kinase, brain (CKB), mRNA.	340	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GCCCAGGCGGTCAGCGTTGGA	0.662													G	103986328	T	G	103986328	3	3	82	1	0	0	0	0	1	0	0	0	3446	1667	58	5	130	5	CKB	14	103986328	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	35711931	103986328	3363212	50	5466											
GJD2	57369	broad.mit.edu	37	15	35044812	35044812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:35044812C>T	uc001zis.1	-	1	833	c.833G>A	c.(832-834)cGc>cAc	p.R278H	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	278					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTGATCTTGCGCCATCCCAG	0.512													T	35044812	C	T	35044812	3	4	82	1	0	0	0	0	1	0	0	0	6417	768	27	1	136	1	GJD2	15	35044812	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		35044812	67486580	51	5467											
THSD4	79875	broad.mit.edu	37	15	71535188	71535188	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:71535188G>A	uc002atb.1	+	3	744	c.665G>A	c.(664-666)gGg>gAg	p.G222E	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	222	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCAACATGGGCCTTTGTAC	0.597													A	71535188	G	A	71535188	3	1	82	1	0	0	0	0	1	0	0	0	15875	1232	43	3	679	3	THSD4	15	71535188	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	36490376	71535188	30996204	52	5468											
KRT27	342574	broad.mit.edu	37	17	38938701	38938701	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr17:38938701G>A	uc002hvg.3	-	0	86	c.45C>T	c.(43-45)tgC>tgT	p.C15C		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	15	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAGTGCCCCCGCAAGAGCCAA	0.582													A	38938701	G	A	38938701	2	1	82	1	0	0	0	0	0	0	0	1	8464	1079	38	1		1	KRT27	17	38938701	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08		38938701	42256509	53	5469											
MYO5B	4645	broad.mit.edu	37	18	47352977	47352977	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:47352977C>T	uc002leb.2	-	39	5699	c.5411G>A	c.(5410-5412)cGg>cAg	p.R1804Q	MYO5B_uc002ldz.3_Missense_Mutation_p.R374Q|MYO5B_uc002lea.2_Missense_Mutation_p.R919Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1804					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGGTCATTCCGCTCTTGTAG	0.408													T	47352977	C	T	47352977	3	4	82	1	0	0	0	0	1	0	0	0	10079	652	23	2	139	2	MYO5B	18	47352977	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		47352977	30724271	54	5470											
RNF152	220441	broad.mit.edu	37	18	59483671	59483672	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:59483671_59483672delAG	uc002lih.1	-	1	437_438	c.25_26delCT	c.(25-27)ctgfs	p.L9fs	RNF152_uc021ula.1_Frame_Shift_Del_p.L9fs	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	9					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				ACATTCCAGCAGAGAGTCCTGG	0.594													-	59483672	AG	-	59483671	7	5	82	1	0	1	0	1	0	0	0	0	13453	188	7	0	589	0	RNF152	18	59483671	Frame_Shift_Del	DEL	AG	TCGA-06-2565-01A-01D-1494-08	12130694	59483671	18593577	55	5471											
ZNF407	55628	broad.mit.edu	37	18	72345779	72345779	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:72345779C>T	uc002llw.2	+	0	2857	c.2804C>T	c.(2803-2805)gCt>gTt	p.A935V	ZNF407_uc010xfc.2_Missense_Mutation_p.A935V|ZNF407_uc010dqu.2_Missense_Mutation_p.A935V|ZNF407_uc002llu.2_Missense_Mutation_p.A934V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		AAAAAGAATGCTGGCTCAGCA	0.453													T	72345779	C	T	72345779	3	4	82	1	0	0	0	0	1	0	0	0	17884	797	28	3	2806	3	ZNF407	18	72345779	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	12862108	72345779	5731469	56	5472											
TCF3	6929	broad.mit.edu	37	19	1623996	1623996	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:1623996G>A	uc002ltr.3	-	7	572	c.503C>T	c.(502-504)aCg>aTg	p.T168M	TCF3_uc002lto.3_5'Flank|TCF3_uc002ltt.4_Missense_Mutation_p.T168M|TCF3_uc002ltq.3_Missense_Mutation_p.T117M|TCF3_uc002lts.1_Missense_Mutation_p.T84M	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	168					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	p.T168M(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CTTGGGCTGCGTGTCTGTTAG	0.612			T	"PBX1, HLF, TFPT"	pre B-ALL								A	1623996	G	A	1623996	3	1	82	1	0	0	0	0	1	0	0	0	15691	1145	40	1	1740	1	TCF3	19	1623996	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		1623996	57504987	57	5473											
ZNF506	440515	broad.mit.edu	37	19	19905675	19905675	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:19905675A>G	uc010eci.2	-	3	1169	c.1021T>C	c.(1021-1023)Tac>Cac	p.Y341H	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.Y309H	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TCACATTTGTAGGGTACATCT	0.408													G	19905675	A	G	19905675	3	3	82	1	0	0	0	0	1	0	0	0	17949	420	15	4	317	4	ZNF506	19	19905675	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08	18281679	19905675	39223308	58	5474											
CEACAM20	125931	broad.mit.edu	37	19	45015149	45015149	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:45015149G>T	uc010ejn.1	-	11	1692	c.1676C>A	c.(1675-1677)cCt>cAt	p.P559H	CEACAM20_uc010ejo.1_Missense_Mutation_p.P547H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P466H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P454H	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	559						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGGCATCAGAGGTTTGGGTGG	0.507													T	45015149	G	T	45015149	3	4	82	1	0	0	0	0	1	0	0	0	3191	1000	35	5	122	5	CEACAM20	19	45015149	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	25109474	45015149	14113834	59	5475											
TFPT	29844	broad.mit.edu	37	19	54617886	54617886	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:54617886C>T	uc010yej.1	-	1	624	c.218G>A	c.(217-219)cGc>cAc	p.R73H	TFPT_uc010erd.2_Missense_Mutation_p.R73H|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank|PRPF31_uc021vbi.1_5'Flank	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	73					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TTCCCGCTGGCGCCGCCGCCG	0.652			T	TCF3	pre-B ALL								T	54617886	C	T	54617886	3	4	82	1	0	0	0	0	1	0	0	0	15807	768	27	1	563	1	TFPT	19	54617886	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	9602737	54617886	4511097	60	5476											
DNTTIP1	116092	broad.mit.edu	37	20	44431987	44431987	+	Silent	SNP	C	C	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr20:44431987C>A	uc002xpk.3	+	7	641	c.573C>A	c.(571-573)tcC>tcA	p.S191S		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	191						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AACCAAAATCCTGTGAACCAA	0.493													A	44431987	C	A	44431987	2	1	82	1	0	0	0	0	0	0	0	1	4681	668	24	5		5	DNTTIP1	20	44431987	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08		44431987	18593533	61	5477											
UMODL1	89766	broad.mit.edu	37	21	43539379	43539379	+	Silent	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr21:43539379C>T	uc002zag.1	+	13	3018	c.3018C>T	c.(3016-3018)acC>acT	p.T1006T	UMODL1_uc002zad.1_Silent_p.T806T|UMODL1_uc002zae.1_Silent_p.T934T|UMODL1_uc002zaf.1_Silent_p.T878T|UMODL1_uc002zal.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	878	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CATTTCTCACCGCCTTCCAGA	0.567													T	43539379	C	T	43539379	2	4	82	1	0	0	0	0	0	0	0	1	16977	639	23	2		2	UMODL1	21	43539379	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08		43539379	4590516	62	5478											
DNMT3L	29947	broad.mit.edu	37	21	45679526	45679526	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr21:45679526C>T	uc002zeg.1	-	3	704	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	DNMT3L_uc002zeh.1_Missense_Mutation_p.A74T	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	74	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTACATGGGGCGCAGATCCCT	0.542													T	45679526	C	T	45679526	3	4	82	1	0	0	0	0	1	0	0	0	4678	768	27	1	979	1	DNMT3L	21	45679526	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	2140147	45679526	2450369	63	5479											
INPP5J	27124	broad.mit.edu	37	22	31523358	31523358	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:31523358G>A	uc003aju.4	+	5	1719	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	INPP5J_uc003ajw.3_5'UTR|INPP5J_uc003ajt.4_Missense_Mutation_p.V175M|INPP5J_uc003ajv.4_Missense_Mutation_p.V176M|INPP5J_uc003ajs.4_Missense_Mutation_p.V176M|INPP5J_uc011alk.2_Missense_Mutation_p.V476M|INPP5J_uc010gwg.3_Missense_Mutation_p.V108M	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	543	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAAGGGTGGCGTGAGCGTGCG	0.632													A	31523358	G	A	31523358	3	1	82	1	0	0	0	0	1	0	0	0	7759	1145	40	1	545	1	INPP5J	22	31523358	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		31523358	19781208	64	5480											
SFI1	9814	broad.mit.edu	37	22	31957290	31957290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:31957290C>T	uc003ale.3	+	7	1070	c.677C>T	c.(676-678)aCg>aTg	p.T226M	SFI1_uc003ald.1_Missense_Mutation_p.T202M|SFI1_uc003alf.3_Missense_Mutation_p.T226M|SFI1_uc003alg.3_Missense_Mutation_p.T144M|SFI1_uc011alp.2_Missense_Mutation_p.T144M|SFI1_uc011alq.2_Missense_Mutation_p.T202M|SFI1_uc003alh.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	226					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGTGGAGCACGTGGAGGCAG	0.572											OREG0026480	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	31957290	C	T	31957290	3	4	82	1	0	0	0	0	1	0	0	0	14156	536	19	1	703	1	SFI1	22	31957290	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	433932	31957290	19347276	65	5481											
GTSE1	51512	broad.mit.edu	37	22	46725343	46725343	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:46725343T>C	uc011aqy.2	+	10	2227	c.2015T>C	c.(2014-2016)tTc>tCc	p.F672S	GTSE1_uc011aqz.2_Missense_Mutation_p.F519S|GTSE1_uc003bhn.3_Non-coding_Transcript|BC069212_uc011ara.2_5'Flank|BC069212_uc003bho.4_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	653					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCATCGACTTCTGCGATACC	0.498													C	46725343	T	C	46725343	3	2	82	1	0	0	0	0	1	0	0	0	6885	1783	62	4	2053	4	GTSE1	22	46725343	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	14768053	46725343	4579223	66	5482											
CNKSR2	22866	broad.mit.edu	37	X	21450738	21450739	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:21450738_21450739insT	uc004czx.2	+	2	717_718	c.237_238insT	c.(235-240)ggcttgfs	p.G79fs	CNKSR2_uc004czw.3_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjn.2_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjo.2_Frame_Shift_Ins_p.G79fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	79					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGAATTATGGCTTGGAAACAGA	0.307													T	21450739	-	T	21450738	7	5	82	1	0	1	1	0	0	0	0	0	3607	784	28	0	247	0	CNKSR2	23	21450738	Frame_Shift_Ins	INS	-	TCGA-06-2565-01A-01D-1494-08		21450738	133819822	67	5483											
SMC1A	8243	broad.mit.edu	37	X	53430549	53430549	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:53430549C>T	uc004dsg.3	-	14	2438	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q	SMC1A_uc011moe.2_Missense_Mutation_p.R768Q	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	790			R -> Q (in CDLS2).		cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.R790Q(4)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCAAACTCCCGGATGTTGCG	0.517													T	53430549	C	T	53430549	3	4	82	1	0	0	0	0	1	0	0	0	14781	652	23	2	1376	2	SMC1A	23	53430549	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	31979811	53430549	101840011	68	5484											
SMC1A	8243	broad.mit.edu	37	X	53438785	53438785	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:53438785C>T	uc004dsg.3	-	6	1249	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	SMC1A_uc011moe.2_Missense_Mutation_p.E372K|SMC1A_uc011mof.2_Missense_Mutation_p.E160K	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	394					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTGAATTTCTCCAGCTCCTGG	0.498													T	53438785	C	T	53438785	3	4	82	1	0	0	0	0	1	0	0	0	14781	864	30	3	2597	3	SMC1A	23	53438785	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	8236	53438785	101831775	69	5485											
FRMD7	90167	broad.mit.edu	37	X	131212246	131212246	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:131212246C>T	uc004ewn.3	-	11	1977	c.1799G>A	c.(1798-1800)cGt>cAt	p.R600H	FRMD7_uc022cdy.1_Missense_Mutation_p.R480H|FRMD7_uc011muy.2_Missense_Mutation_p.R585H	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	600					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAAAGGAAAACGAATAGTTTT	0.428													T	131212246	C	T	131212246	3	4	82	1	0	0	0	0	1	0	0	0	6055	536	19	1	349	1	FRMD7	23	131212246	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	77773461	131212246	24058314	70	5486											
MAP7D3	79649	broad.mit.edu	37	X	135301831	135301831	+	Splice_Site	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:135301831C>T	uc004ezt.3	-	17	2708	c.2487_splice	c.e17-1	p.R829_splice	MAP7D3_uc004ezs.3_Splice_Site_p.R794_splice|MAP7D3_uc011mwc.2_Splice_Site_p.R811_splice|MAP7D3_uc010nsa.2_Intron	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	829						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGAAGATGGTCTGGAAAGAGA	0.418													T	135301831	C	T	135301831	5	4	82	1	0	0	0	0	0	0	1	0	9269	927	32	3	152	3	MAP7D3	23	135301831	Splice_Site	SNP	C	TCGA-06-2565-01A-01D-1494-08	4089585	135301831	19968729	71	5487											
AFF2	2334	broad.mit.edu	37	X	148038125	148038125	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:148038125G>A	uc004fcp.3	+	10	3029	c.2550G>A	c.(2548-2550)aaG>aaA	p.K850K	AFF2_uc004fcq.3_Silent_p.K840K|AFF2_uc004fcr.3_Silent_p.K811K|AFF2_uc011mxb.2_Silent_p.K815K|AFF2_uc004fcs.3_Silent_p.K817K|AFF2_uc011mxc.2_Silent_p.K491K	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	850					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P849H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCCTAAGGGCAAACGTA	0.517													A	148038125	G	A	148038125	2	1	82	1	0	0	0	0	0	0	0	1	357	991	35	3		3	AFF2	23	148038125	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08	12736294	148038125	7232435	72	5488											
GBP4	115361	broad.mit.edu	37	1	89655829	89655829	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:89655829C>T	uc001dnb.3	-	6	1205	c.1089G>A	c.(1087-1089)acG>acA	p.T363T		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	363						cytoplasm	GTP binding|GTPase activity			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)		GCTCCTGGAGCGTGTCTGTGG	0.577													T	89655829	C	T	89655829	2	4	83	1	0	0	0	0	0	0	0	1	6276	755	27	1		1	GBP4	1	89655829	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		89655829	159594792	1	5489											
NBPF10	400818	broad.mit.edu	37	1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:144825416G>T	uc009wig.1	+	17	2330	c.2136G>T	c.(2134-2136)tgG>tgT	p.W712C	NBPF10_uc010oxo.1_Missense_Mutation_p.W639C|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Missense_Mutation_p.W529C|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.W515C|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.W374C	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	714										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)		TGGGTAGATGGTATTCGACTC	0.498													T	144825416	G	T	144825416	3	4	83	1	0	0	0	0	1	0	0	0	10193	1270	44	5		5	NBPF10	1	144825416	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	55169587	144825416	104425205	2	5490											
TCHH	7062	broad.mit.edu	37	1	152082760	152082760	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:152082760G>A	uc009wne.1	-	2	3205	c.2933C>T	c.(2932-2934)cCg>cTg	p.P978L	TCHH_uc001ezp.2_Missense_Mutation_p.P978L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	978	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tctcttctccggttcctctcc	0.557													A	152082760	G	A	152082760	3	1	83	1	0	0	0	0	1	0	0	0	15697	1116	39	2	2902	2	TCHH	1	152082760	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	7257344	152082760	97167861	3	5491											
TOMM20	9804	broad.mit.edu	37	1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	rs1130507		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:235291954C>T	uc001hwl.3	-	0	303	c.77G>A	c.(76-78)cGc>cAc	p.R26H	SNORA14B_uc001hwm.1_5'Flank	NM_014765	NP_055580	Q15388	TOM20_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 20 homolog (yeast) (TOMM20), nuclear gene encoding mitochondrial protein, mRNA.	26					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597													T	235291954	C	T	235291954	3	4	83	1	0	0	0	0	1	0	0	0	16351	768	27	1	380	1	TOMM20	1	235291954	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	83209194	235291954	13958667	4	5492											
OR2M5	127059	broad.mit.edu	37	1	248308935	248308935	+	Silent	SNP	G	G	A	rs138472974	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:248308935G>A	uc010pze.2	+	0	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			ATGCTGTAGCGACATTTTCCT	0.448													A	248308935	G	A	248308935	2	1	83	1	0	0	0	0	0	0	0	1	11013	1045	37	2		2	OR2M5	1	248308935	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	13016981	248308935	941686	5	5493											
OR2M3	127062	broad.mit.edu	37	1	248367072	248367072	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:248367072C>T	uc010pzg.2	+	0	703	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235H(2)|p.R235C(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			AGAGGGTCGTCGCAAAGCTTT	0.473													T	248367072	C	T	248367072	3	4	83	1	0	0	0	0	1	0	0	0	11011	884	31	2	705	2	OR2M3	1	248367072	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	58137	248367072	883549	6	5494											
PROC	5624	broad.mit.edu	37	2	128177527	128177527	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:128177527G>A	uc002tol.3	+	1	99	c.72G>A	c.(70-72)caG>caA	p.Q24Q	PROC_uc002tok.3_Silent_p.Q3Q|PROC_uc010yzi.2_Silent_p.Q24Q|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Silent_p.Q24Q	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	3					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GAATGTGGCAGCTCACAAGCC	0.652													A	128177527	G	A	128177527	2	1	83	1	0	0	0	0	0	0	0	1	12545	962	34	3		3	PROC	2	128177527	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08		128177527	115021846	7	5495											
SPEG	10290	broad.mit.edu	37	2	220349266	220349266	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:220349266G>A	uc010fwg.3	+	29	7081	c.7081G>A	c.(7081-7083)Ggc>Agc	p.G2361S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2361	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			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)		GGAGGAGCGCGGCCCCTTCCG	0.731													A	220349266	G	A	220349266	3	1	83	1	0	0	0	0	1	0	0	0	15035	1116	39	2	7211	2	SPEG	2	220349266	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	92171739	220349266	22850107	8	5496											
IQCA1	79781	broad.mit.edu	37	2	237374203	237374203	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:237374203C>T	uc002vwb.2	-	5	926	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	IQCA1_uc002vvz.1_Missense_Mutation_p.V291M|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.V291M	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	291							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTGATATCCACGCCTTCTATC	0.473													T	237374203	C	T	237374203	3	4	83	1	0	0	0	0	1	0	0	0	7802	536	19	1	1653	1	IQCA1	2	237374203	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	17024937	237374203	5825170	9	5497											
CSPG5	10675	broad.mit.edu	37	3	47619240	47619240	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:47619240C>T	uc003crp.4	-	1	452	c.276G>A	c.(274-276)tcG>tcA	p.S92S	CSPG5_uc003crn.3_5'UTR|CSPG5_uc003cro.4_Silent_p.S92S|CSPG5_uc021wxh.1_Silent_p.S92S|CSPG5_uc021wxi.1_5'UTR|CSPG5_uc011bbb.2_5'UTR	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	92					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCACCGCAGCCGACTCCTGCA	0.726													T	47619240	C	T	47619240	2	4	83	1	0	0	0	0	0	0	0	1	3961	639	23	2		2	CSPG5	3	47619240	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		47619240	150403190	10	5498											
OR5K1	26339	broad.mit.edu	37	3	98188663	98188663	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:98188663G>A	uc003dsm.3	+	0	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCCCAAAATGTTAGAGAACT	0.413													A	98188663	G	A	98188663	3	1	83	1	0	0	0	0	1	0	0	0	11166	1377	48	3	245	3	OR5K1	3	98188663	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	50569423	98188663	99833767	11	5499											
SLC15A2	6565	broad.mit.edu	37	3	121647354	121647354	+	Silent	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:121647354G>T	uc003eep.2	+	14	1446	c.1293G>T	c.(1291-1293)gtG>gtT	p.V431V	SLC15A2_uc011bjn.1_Silent_p.V400V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	431					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGACAGTGGTGGGAAATGAAA	0.443													T	121647354	G	T	121647354	2	4	83	1	0	0	0	0	0	0	0	1	14399	1335	47	5		5	SLC15A2	3	121647354	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	23458691	121647354	76375076	12	5500											
COPB2	9276	broad.mit.edu	37	3	139098010	139098010	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:139098010G>A	uc003etf.4	-	3	364	c.234C>T	c.(232-234)gaC>gaT	p.D78D	COPB2_uc011bmv.2_Silent_p.D49D|COPB2_uc010hui.3_Silent_p.D49D|COPB2_uc011bmw.1_Silent_p.D78D	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	78					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TAATCTGCATGTCATCCTAGA	0.363													A	139098010	G	A	139098010	2	1	83	1	0	0	0	0	0	0	0	1	3729	1368	48	3		3	COPB2	3	139098010	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	17450656	139098010	58924420	13	5501											
BST1	683	broad.mit.edu	37	4	15717416	15717416	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:15717416C>G	uc003goh.4	+	5	893	c.698C>G	c.(697-699)cCc>cGc	p.P233R		NM_004334	NP_004325	Q10588	BST1_HUMAN	Homo sapiens bone marrow stromal cell antigen 1 (BST1), mRNA.	233					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						ATTGGGGGACCCAATGTGTAA	0.328													G	15717416	C	G	15717416	3	3	83	1	0	0	0	0	1	0	0	0	1533	623	22	5	720	5	BST1	4	15717416	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		15717416	175436860	14	5502											
AREG	374	broad.mit.edu	37	4	75312298	75312298	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:75312298C>T	uc021xpc.1	+	1	319	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	37					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			CTCTGGGAAGCGTGAACCATT	0.483													T	75312298	C	T	75312298	3	4	83	1	0	0	0	0	1	0	0	0	843	768	27	1	115	1	AREG	4	75312298	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	59594882	75312298	115841978	15	5503											
ADH6	130	broad.mit.edu	37	4	100130080	100130080	+	Silent	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:100130080A>G	uc003huo.2	-	5	667	c.573T>C	c.(571-573)acT>acC	p.T191T	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Silent_p.T191T|ADH6_uc010ile.3_Silent_p.T191T	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	191					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TAGAACCTGGAGTCACCTAAA	0.458													G	100130080	A	G	100130080	2	3	83	1	0	0	0	0	0	0	0	1	312	291	11	4		4	ADH6	4	100130080	Silent	SNP	A	TCGA-06-2567-01A-01D-1494-08	24817782	100130080	91024196	16	5504											
ITGA1	3672	broad.mit.edu	37	5	52183784	52183784	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr5:52183784G>A	uc003jou.3	+	7	1325	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	304	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AACATTCAACGGTTTTCCATA	0.388													A	52183784	G	A	52183784	3	1	83	1	0	0	0	0	1	0	0	0	7872	1116	39	2	941	2	ITGA1	5	52183784	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		52183784	128731476	17	5505											
DSP	1832	broad.mit.edu	37	6	7569486	7569486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:7569486C>T	uc003mxp.1	+	11	1766	c.1487C>T	c.(1486-1488)aCg>aTg	p.T496M	DSP_uc003mxq.1_Missense_Mutation_p.T496M|DSP_uc021yle.1_Missense_Mutation_p.T496M	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	496	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGTACGTGACGGGCCCGGGA	0.552													T	7569486	C	T	7569486	3	4	83	1	0	0	0	0	1	0	0	0	4781	536	19	1	1533	1	DSP	6	7569486	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		7569486	163545581	18	5506											
COL11A2	1302	broad.mit.edu	37	6	33153497	33153497	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:33153497C>T	uc003ocx.1	-	5	1085	c.857G>A	c.(856-858)gGg>gAg	p.G286E	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	286	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGGGTTGTCCCCGTAGTCAT	0.542													T	33153497	C	T	33153497	3	4	83	1	0	0	0	0	1	0	0	0	3668	623	22	3	4597	3	COL11A2	6	33153497	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	25584011	33153497	137961570	19	5507											
ASCC3	10973	broad.mit.edu	37	6	101054729	101054729	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:101054729A>G	uc003pqk.3	-	31	5260	c.4931T>C	c.(4930-4932)aTt>aCt	p.I1644T		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1644	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GCTTGTAGCAATAAGAACCTA	0.294													G	101054729	A	G	101054729	3	3	83	1	0	0	0	0	1	0	0	0	1033	101	4	4	1721	4	ASCC3	6	101054729	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08	67901232	101054729	70060338	20	5508											
CITED2	10370	broad.mit.edu	37	6	139694947	139694947	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:139694947C>T	uc021zfz.1	-	1	225	c.135G>A	c.(133-135)caG>caA	p.Q45Q	CITED2_uc021zga.1_Silent_p.Q45Q|CITED2_uc003qip.1_Silent_p.Q45Q|CITED2_uc021zgb.1_Silent_p.Q45Q	NM_001168389	NP_006070	Q99967	CITE2_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.	45	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			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TGAAGGCGTGCTGGGGCTGCT	0.662													T	139694947	C	T	139694947	2	4	83	1	0	0	0	0	0	0	0	1	3440	796	28	3		3	CITED2	6	139694947	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	38640218	139694947	31420120	21	5509											
HOXA6	3203	broad.mit.edu	37	7	27185382	27185382	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:27185382G>C	uc003syo.2	-	1	622	c.597C>G	c.(595-597)atC>atG	p.I199M	HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACCAGATCTTGATCTGGCGCT	0.597													C	27185382	G	C	27185382	3	2	83	1	0	0	0	0	1	0	0	0	7296	1280	45	5	108	5	HOXA6	7	27185382	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		27185382	131953281	22	5510											
COBL	23242	broad.mit.edu	37	7	51096735	51096735	+	Silent	SNP	T	T	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:51096735T>C	uc003tps.3	-	10	2414	c.2229A>G	c.(2227-2229)acA>acG	p.T743T	COBL_uc003tpr.4_Silent_p.T686T|COBL_uc011kcl.2_Silent_p.T686T|COBL_uc003tpp.4_Silent_p.T472T|COBL_uc003tpq.4_Silent_p.T627T|COBL_uc003tpo.4_Silent_p.T228T	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	686										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGCCATGATGTTGGTGCCA	0.498													C	51096735	T	C	51096735	2	2	83	1	0	0	0	0	0	0	0	1	3653	1451	51	4		4	COBL	7	51096735	Silent	SNP	T	TCGA-06-2567-01A-01D-1494-08	23911353	51096735	108041928	23	5511											
POM121L12	285877	broad.mit.edu	37	7	53104084	53104084	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:53104084C>T	uc003tpz.3	+	0	736	c.720C>T	c.(718-720)ctC>ctT	p.L240L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	240								p.S239T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGCCGAGCCTCGGCCCCTGGA	0.647													T	53104084	C	T	53104084	2	4	83	1	0	0	0	0	0	0	0	1	12241	871	31	2		2	POM121L12	7	53104084	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	2007349	53104084	106034579	24	5512											
EGFR	1956	broad.mit.edu	37	7	55233036	55233036	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:55233036C>T	uc003tqk.3	+	14	2032	c.1786C>T	c.(1786-1788)Ccg>Tcg	p.P596S	EGFR_uc003tqi.3_Missense_Mutation_p.P596S|EGFR_uc003tqj.3_Missense_Mutation_p.P596S|EGFR_uc022adm.1_Missense_Mutation_p.P596S|EGFR_uc010kzg.2_Missense_Mutation_p.P551S|EGFR_uc022adn.1_Missense_Mutation_p.P551S|EGFR_uc011kco.2_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGACCTGCCCGGCAGGAGT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233036	C	T	55233036	3	4	83	1	0	0	0	0	1	0	0	0	4967	623	22	3	1855	3	EGFR	7	55233036	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	2128952	55233036	103905627	25	5513											
CALN1	83698	broad.mit.edu	37	7	71571150	71571150	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:71571150C>T	uc003twb.4	-	3	765	c.374G>A	c.(373-375)cGc>cAc	p.R125H	CALN1_uc003twa.4_Missense_Mutation_p.R83H|CALN1_uc003twc.4_Missense_Mutation_p.R83H	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	83						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.W124C(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGTCCAAGCGCTGCATGAT	0.587													T	71571150	C	T	71571150	3	4	83	1	0	0	0	0	1	0	0	0	2591	768	27	1	427	1	CALN1	7	71571150	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	16338114	71571150	87567513	26	5514											
SLC26A5	375611	broad.mit.edu	37	7	103050930	103050930	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:103050930A>T	uc003vbz.3	-	6	899	c.637T>A	c.(637-639)Ttt>Att	p.F213I	SLC26A5_uc003vbt.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbu.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbv.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F213I	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	213					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCGGTGGTAAACCCACGGACC	0.408													T	103050930	A	T	103050930	3	4	83	1	0	0	0	0	1	0	0	0	14520	43	2	5	1694	5	SLC26A5	7	103050930	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08	31479780	103050930	56087733	27	5515											
COPG2	26958	broad.mit.edu	37	7	130297070	130297070	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:130297070T>C	uc003vqh.1	-	7	622	c.532A>G	c.(532-534)Atc>Gtc	p.I178V		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	178					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					GCTTCATTGATCCAGCGCTTA	0.353													C	130297070	T	C	130297070	3	2	83	1	0	0	0	0	1	0	0	0	3732	1435	50	4	698	4	COPG2	7	130297070	Missense_Mutation	SNP	T	TCGA-06-2567-01A-01D-1494-08	27246140	130297070	28841593	28	5516											
SH2D4A	63898	broad.mit.edu	37	8	19177081	19177081	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:19177081A>G	uc003wzc.3	+	1	331	c.23A>G	c.(22-24)gAg>gGg	p.E8G	SH2D4A_uc003wzb.3_Missense_Mutation_p.E8G|SH2D4A_uc011kym.2_Intron	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	8						cytoplasm|nucleus	protein binding	p.S7L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		ATACTGTCGGAGATGTACATA	0.463													G	19177081	A	G	19177081	3	3	83	1	0	0	0	0	1	0	0	0	14235	304	11	4	75	4	SH2D4A	8	19177081	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08		19177081	127186941	29	5517											
PREX2	80243	broad.mit.edu	37	8	69030839	69030839	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:69030839C>A	uc003xxv.1	+	26	3408	c.3381C>A	c.(3379-3381)agC>agA	p.S1127R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1127					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTGCAGCAGCCAGTGCAGCT	0.463													A	69030839	C	A	69030839	3	1	83	1	0	0	0	0	1	0	0	0	12477	738	26	5	3716	5	PREX2	8	69030839	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	49853758	69030839	77333183	30	5518											
CSMD3	114788	broad.mit.edu	37	8	113529374	113529374	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:113529374T>A	uc003ynu.3	-	27	4804	c.4645A>T	c.(4645-4647)Act>Tct	p.T1549S	CSMD3_uc003yns.3_Missense_Mutation_p.T821S|CSMD3_uc003ynt.3_Missense_Mutation_p.T1509S|CSMD3_uc011lhx.2_Missense_Mutation_p.T1445S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1549	Sushi 8.					integral to membrane|plasma membrane		p.D1548fs*19(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						AAAACAACAGTGTCCCCAGGT	0.498										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113529374	T	A	113529374	3	1	83	1	0	0	0	0	1	0	0	0	3946	1696	59	5	6654	5	CSMD3	8	113529374	Missense_Mutation	SNP	T	TCGA-06-2567-01A-01D-1494-08	44498535	113529374	32834648	31	5519											
SAMD12	401474	broad.mit.edu	37	8	119391929	119391929	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:119391929C>T	uc003yom.2	-	3	462	c.333G>A	c.(331-333)ctG>ctA	p.L111L	SAMD12_uc010mda.1_Silent_p.L111L|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	111	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TAAGTCTCAGCAGGGCTCGCC	0.488													T	119391929	C	T	119391929	2	4	83	1	0	0	0	0	0	0	0	1	13817	697	25	3		3	SAMD12	8	119391929	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	5862555	119391929	26972093	32	5520											
COL22A1	169044	broad.mit.edu	37	8	139791753	139791753	+	Missense_Mutation	SNP	C	C	T	rs149163176	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:139791753C>T	uc003yvd.3	-	14	2151	c.1704_splice	c.e14+1	p.R568_splice		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	568	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			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)			AACACTCACCCGCATGCCGAC	0.592										HNSCC(7;0.00092)			T	139791753	C	T	139791753	3	4	83	1	0	0	0	0	1	0	0	0	3681	666	23	2	3385	2	COL22A1	8	139791753	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	20399824	139791753	6572269	33	5521											
DMRT1	1761	broad.mit.edu	37	9	842164	842164	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:842164delC	uc003zgv.3	+	0	475	c.326delC	c.(325-327)gccfs	p.A109fs	DMRT1_uc003zgu.1_Frame_Shift_Del_p.A109fs	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	109					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			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)		AACCTGATCGCCGAGAGGCAG	0.592													-	842164	C	-	842164	7	5	83	1	0	1	0	1	0	0	0	0	4585	739	26	0	328	0	DMRT1	9	842164	Frame_Shift_Del	DEL	C	TCGA-06-2567-01A-01D-1494-08		842164	140371267	34	5522											
CNTNAP3	79937	broad.mit.edu	37	9	39078395	39078396	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:39078395_39078396delAG	uc004abi.3	-	22	3970_3971	c.3731_3732delCT	c.(3730-3732)tctfs	p.S1244fs	CNTNAP3_uc004abj.3_Frame_Shift_Del_p.S1163fs|CNTNAP3_uc011lqr.2_Non-coding_Transcript	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	1244					cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGATGACAGCAGAGTCTCTTCT	0.436													-	39078396	AG	-	39078395	7	5	83	1	0	1	0	1	0	0	0	0	3648	175	7	0	142	0	CNTNAP3	9	39078395	Frame_Shift_Del	DEL	AG	TCGA-06-2567-01A-01D-1494-08	38236231	39078395	102135036	35	5523											
OR1N1	138883	broad.mit.edu	37	9	125289116	125289116	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:125289116C>T	uc004bmn.1	-	0	457	c.457G>A	c.(457-459)Gtt>Att	p.V153I		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTCAGGGCAACGATATTGGTG	0.537													T	125289116	C	T	125289116	3	4	83	1	0	0	0	0	1	0	0	0	10969	536	19	1	482	1	OR1N1	9	125289116	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	86210721	125289116	15924315	36	5524											
DBH	1621	broad.mit.edu	37	9	136508597	136508597	+	Silent	SNP	C	C	T	rs141816448		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:136508597C>T	uc004cel.3	+	3	816	c.807C>T	c.(805-807)tgC>tgT	p.C269C		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	269					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.C269C(2)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TCTTCCAGTGCGCCCCCGAGA	0.662													T	136508597	C	T	136508597	2	4	83	1	0	0	0	0	0	0	0	1	4250	776	27	1		1	DBH	9	136508597	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	11219481	136508597	4704834	37	5525											
DLG5	9231	broad.mit.edu	37	10	79581860	79581860	+	Splice_Site	SNP	C	C	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr10:79581860C>G	uc001jzk.3	-	15	2453	c.2383_splice	c.e15-1	p.V795_splice	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Splice_Site|DLG5_uc001jzl.4_Splice_Site_p.V399_splice	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	795	PDZ 2.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GAGGGAATACCTAGGCAGGGA	0.512													G	79581860	C	G	79581860	5	3	83	1	0	0	0	0	0	0	1	0	4558	695	24	5	3449	5	DLG5	10	79581860	Splice_Site	SNP	C	TCGA-06-2567-01A-01D-1494-08		79581860	55952887	38	5526											
HSPA12A	259217	broad.mit.edu	37	10	118464692	118464692	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr10:118464692G>A	uc001lct.3	-	2	329	c.224C>T	c.(223-225)aCc>aTc	p.T75I	HSPA12A_uc001lcu.3_5'UTR	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	75							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGGCTCCTTGGTGAAGCTGTA	0.582													A	118464692	G	A	118464692	3	1	83	1	0	0	0	0	1	0	0	0	7404	1261	44	3	1843	3	HSPA12A	10	118464692	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	38882832	118464692	17070055	39	5527											
DNHD1	144132	broad.mit.edu	37	11	6589084	6589084	+	Nonsense_Mutation	SNP	T	T	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:6589084T>G	uc001mdw.4	+	35	12909	c.12345T>G	c.(12343-12345)taT>taG	p.Y4115*	DNHD1_uc001mea.4_Nonsense_Mutation_p.Y384*|DNHD1_uc001meb.3_Nonsense_Mutation_p.Y383*|DNHD1_uc001mec.3_Nonsense_Mutation_p.Y383*|DNHD1_uc010rao.2_Nonsense_Mutation_p.Y373*|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4115					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGCCAAGTATCAGCAGGTTT	0.562													G	6589084	T	G	6589084	4	3	83	1	0	0	0	0	0	1	0	0	4668	1442	50	5	12488	5	DNHD1	11	6589084	Nonsense_Mutation	SNP	T	TCGA-06-2567-01A-01D-1494-08		6589084	128417432	40	5528											
OR5M1	390168	broad.mit.edu	37	11	56380101	56380101	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:56380101C>T	uc001nja.1	-	0	878	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCTGTGTTCCGTAGGCTATA	0.398													T	56380101	C	T	56380101	3	4	83	1	0	0	0	0	1	0	0	0	11172	652	23	2	73	2	OR5M1	11	56380101	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	49791017	56380101	78626415	41	5529											
OR5AR1	219493	broad.mit.edu	37	11	56431862	56431862	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:56431862G>A	uc010rjm.2	+	0	701	c.701G>A	c.(700-702)cGc>cAc	p.R234H	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCTGAAGGCCGCCTTAAGGCT	0.483													A	56431862	G	A	56431862	3	1	83	1	0	0	0	0	1	0	0	0	11145	1087	38	1	703	1	OR5AR1	11	56431862	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	51761	56431862	78574654	42	5530											
SORL1	6653	broad.mit.edu	37	11	121444999	121444999	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:121444999G>A	uc001pxx.3	+	23	3516	c.3387G>A	c.(3385-3387)ggG>ggA	p.G1129G	SORL1_uc010rzp.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1129	LDL-receptor class A 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			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)		AGGAGTCTGGGACTTGTATCC	0.453													A	121444999	G	A	121444999	2	1	83	1	0	0	0	0	0	0	0	1	14934	1161	41	3		3	SORL1	11	121444999	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	65013137	121444999	13561517	43	5531											
PIP4K2C	79837	broad.mit.edu	37	12	57988971	57988971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:57988971G>A	uc001sou.3	+	2	466	c.335G>A	c.(334-336)cGt>cAt	p.R112H	PIP4K2C_uc001sot.3_Missense_Mutation_p.R112H|PIP4K2C_uc010srs.2_Missense_Mutation_p.R94H|PIP4K2C_uc010srt.2_Missense_Mutation_p.R112H	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	112	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.L111L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGAACCTCCGTGATCGATTT	0.443													A	57988971	G	A	57988971	3	1	83	1	0	0	0	0	1	0	0	0	11938	1145	40	1	345	1	PIP4K2C	12	57988971	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		57988971	75862924	44	5532											
KCNC2	3747	broad.mit.edu	37	12	75441962	75441962	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:75441962G>A	uc001sxg.1	-	3	2295	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	KCNC2_uc009zry.3_Missense_Mutation_p.T584M|KCNC2_uc001sxe.3_Missense_Mutation_p.T584M|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	584					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGAAGCACACGTGTAATCACC	0.448													A	75441962	G	A	75441962	3	1	83	1	0	0	0	0	1	0	0	0	8015	1145	40	1	239	1	KCNC2	12	75441962	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	17452991	75441962	58409933	45	5533											
SCYL2	55681	broad.mit.edu	37	12	100711649	100711649	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:100711649C>T	uc001thn.3	+	9	1391	c.1341C>T	c.(1339-1341)aaC>aaT	p.N447N	SCYL2_uc009ztw.1_Silent_p.N274N|SCYL2_uc001thm.1_Silent_p.N447N	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	447					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGATAAAGAACAGTGTTCTAC	0.333													T	100711649	C	T	100711649	2	4	83	1	0	0	0	0	0	0	0	1	13948	477	17	3		3	SCYL2	12	100711649	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	25269687	100711649	33140246	46	5534											
KSR2	283455	broad.mit.edu	37	12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:117977605delG	uc001two.2	-	9	1574	c.1519delC	c.(1519-1521)ctcfs	p.L507fs		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAGGAGGGAGGGGGGGTGCT	0.632													-	117977605	G	-	117977605	7	5	83	1	0	1	0	1	0	0	0	0	8582	1000	35	0	1290	0	KSR2	12	117977605	Frame_Shift_Del	DEL	G	TCGA-06-2567-01A-01D-1494-08	17265956	117977605	15874290	47	5535											
PIWIL1	9271	broad.mit.edu	37	12	130841563	130841563	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:130841563G>A	uc001uik.3	+	12	1776	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	PIWIL1_uc001uij.2_Missense_Mutation_p.R502Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	502					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCTATACGCGAAGAAATTAT	0.348													A	130841563	G	A	130841563	3	1	83	1	0	0	0	0	1	0	0	0	11957	1058	37	2	1551	2	PIWIL1	12	130841563	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	12863958	130841563	3010332	48	5536											
HEATR4	399671	broad.mit.edu	37	14	73974950	73974950	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr14:73974950C>T	uc021rwe.1	-	8	2117	c.1769G>A	c.(1768-1770)gGt>gAt	p.G590D	HEATR4_uc021rwf.1_Missense_Mutation_p.G543D|HEATR4_uc010tub.1_Missense_Mutation_p.G590D	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGTAGCAGTACCTTCCAGAGC	0.478													T	73974950	C	T	73974950	3	4	83	1	0	0	0	0	1	0	0	0	7030	507	18	3	1351	3	HEATR4	14	73974950	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		73974950	33374590	49	5537											
B2M	567	broad.mit.edu	37	15	45007798	45007801	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:45007798_45007801delTCTA	uc001zuc.3	+	1	305_308	c.245_248delTCTA	c.(244-249)ttctatfs	p.F82fs	B2M_uc010uek.1_Frame_Shift_Del_p.F82fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	82	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.F82V(1)|p.Y83*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GACTGGTCTTTCTATCTCTTGTAC	0.436													-	45007801	TCTA	-	45007798	7	5	83	1	0	1	0	1	0	0	0	0	1244	1783	62	0	251	0	B2M	15	45007798	Frame_Shift_Del	DEL	TCTA	TCGA-06-2567-01A-01D-1494-08		45007798	57523594	50	5538											
C15orf43	145645	broad.mit.edu	37	15	45249150	45249150	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:45249150G>C	uc001zuk.3	+	1	135	c.121G>C	c.(121-123)Gat>Cat	p.D41H		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	41										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GTTCAGCTGTGATGCCTCGCA	0.577													C	45249150	G	C	45249150	3	2	83	1	0	0	0	0	1	0	0	0	1797	1290	45	5	127	5	C15orf43	15	45249150	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	241352	45249150	57282242	51	5539											
CYP11A1	1583	broad.mit.edu	37	15	74637444	74637444	+	Missense_Mutation	SNP	G	G	A	rs121912811		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:74637444G>A	uc002axt.2	-	2	721	c.566C>T	c.(565-567)gCg>gTg	p.A189V	CYP11A1_uc002axs.2_Missense_Mutation_p.A31V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A31V|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.3_Missense_Mutation_p.A189V	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189			A -> V (in AICSR; no loss of activity).		C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCCGGAGCCCGCCTTCTTGAT	0.587													A	74637444	G	A	74637444	3	1	83	1	0	0	0	0	1	0	0	0	4144	1087	38	1	1027	1	CYP11A1	15	74637444	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	29388294	74637444	27893948	52	5540											
ZNF213	7760	broad.mit.edu	37	16	3187509	3187509	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:3187509C>T	uc010uws.2	+	1	675	c.228C>T	c.(226-228)ccC>ccT	p.P76P	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_Silent_p.P76P|ZNF213_uc010bth.3_Silent_p.P76P|ZNF213_uc010uwt.2_Silent_p.P76P	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	76	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGCTGCGGCCCGAGCTGCGTA	0.662													T	3187509	C	T	3187509	2	4	83	1	0	0	0	0	0	0	0	1	17766	639	23	2		2	ZNF213	16	3187509	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		3187509	87167244	53	5541											
CLN3	1201	broad.mit.edu	37	16	28489096	28489096	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:28489096C>T	uc002dpo.3	-	13	1482	c.1159G>A	c.(1159-1161)Gca>Aca	p.A387T	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.A309T|CLN3_uc002dpm.3_Missense_Mutation_p.A333T|CLN3_uc010vcu.2_Missense_Mutation_p.A287T|CLN3_uc010vcv.2_Missense_Mutation_p.A363T|CLN3_uc002dpp.3_Missense_Mutation_p.A387T|CLN3_uc021tfs.1_Missense_Mutation_p.A234T|CLN3_uc002dpt.1_Missense_Mutation_p.A287T|CLN3_uc002dpq.1_Missense_Mutation_p.A339T|CLN3_uc010bye.1_Missense_Mutation_p.A370T|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.A260T|CLN3_uc002dpu.1_Missense_Mutation_p.A285T	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	387					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ACGTAGGCTGCGCCTCCCAGG	0.612													T	28489096	C	T	28489096	3	4	83	1	0	0	0	0	1	0	0	0	3543	768	27	1	165	1	CLN3	16	28489096	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	25301587	28489096	61865657	54	5542											
ORAI3	93129	broad.mit.edu	37	16	30960835	30960835	+	Silent	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:30960835C>T	uc002eac.3	+	0	431	c.225C>T	c.(223-225)gcC>gcT	p.A75A		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 3 (ORAI3), mRNA.	75						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CGGGCTTCGCCATGGTGAGGG	0.692													T	30960835	C	T	30960835	2	4	83	1	0	0	0	0	0	0	0	1	11259	581	21	3		3	ORAI3	16	30960835	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	2471739	30960835	59393918	55	5543											
CHST5	23563	broad.mit.edu	37	16	75563755	75563755	+	Silent	SNP	C	C	T	rs77436937		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:75563755C>T	uc002fej.1	-	4	867	c.546G>A	c.(544-546)acG>acA	p.T182T	CHST5_uc002fei.3_Silent_p.T176T|CHST5_uc021tlk.1_Silent_p.T176T	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	176					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ATGGCTGCCGCGTGCACAGTG	0.667													T	75563755	C	T	75563755	2	4	83	1	0	0	0	0	0	0	0	1	3407	755	27	1		1	CHST5	16	75563755	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	44602920	75563755	14790998	56	5544											
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	rs67389650		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:7577127C>T	uc002gim.2	-	7	1005	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.E271K(54)|p.E271*(34)|p.F270L(23)|p.F270C(16)|p.E271Q(9)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.E271V(6)|p.F270Y(5)|p.F270I(4)|p.G266_E271delGRNSFE(4)|p.E271G(3)|p.E271D(3)|p.G262_F270delGNLLGRNSF(2)|p.E271_R273delEVR(2)|p.F270fs*72(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.S269_F270>I(2)|p.E271P(2)|p.E271del(2)|p.E271fs*34(2)|p.E271fs*35(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271fs*74(1)|p.S269_F270insX(1)|p.S269fs*21(1)|p.S269fs*34(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)		ACACGCACCTCAAAGCTGTTC	0.537		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)			T	7577127	C	T	7577127	3	4	83	1	0	0	0	0	1	0	0	0	16378	835	29	3	475	3	TP53	17	7577127	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		7577127	73618083	57	5545											
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			A	7578263	G	A	7578263	4	1	83	1	0	0	0	0	0	1	0	0	16378	1124	39	2	708	2	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	1136	7578263	73616947	58	5546											
MYH13	8735	broad.mit.edu	37	17	10206539	10206539	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:10206539A>G	uc002gmk.1	-	38	5731	c.5641T>C	c.(5641-5643)Tct>Cct	p.S1881P		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1881					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTTGTAAGACTTCACTTTG	0.612													G	10206539	A	G	10206539	3	3	83	1	0	0	0	0	1	0	0	0	10032	275	10	4	187	4	MYH13	17	10206539	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08	2628276	10206539	70988671	59	5547											
CCDC144A	9720	broad.mit.edu	37	17	16593762	16593762	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:16593762G>A	uc002gqk.1	+	0	124	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	16								p.P16P(1)									AGGGGTCTCCGAAGCCGGCAG	0.672													A	16593762	G	A	16593762	2	1	83	1	0	0	0	0	0	0	0	1	2777	1045	37	2		2	CCDC144A	17	16593762	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	6387223	16593762	64601448	60	5548											
HELZ	9931	broad.mit.edu	37	17	65104714	65104714	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:65104714G>A	uc010wqk.2	-	29	4808	c.4621C>T	c.(4621-4623)Ctc>Ttc	p.L1541F	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.L1540F|HELZ_uc010der.3_Missense_Mutation_p.L84F	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGATGCTGGAGGTGAGGATGG	0.577													A	65104714	G	A	65104714	3	1	83	1	0	0	0	0	1	0	0	0	7049	1000	35	3	1226	3	HELZ	17	65104714	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	48510952	65104714	16090496	61	5549											
DSG1	1828	broad.mit.edu	37	18	28934952	28934952	+	Silent	SNP	C	C	T	rs147922509	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr18:28934952C>T	uc002kwp.3	+	14	3005	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S	DSG1_uc010xbp.2_Silent_p.S290S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	931					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AACCAACTTCCGGCATGATAG	0.463													T	28934952	C	T	28934952	2	4	83	1	0	0	0	0	0	0	0	1	4776	639	23	2		2	DSG1	18	28934952	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		28934952	49142296	62	5550											
STXBP2	6813	broad.mit.edu	37	19	7707328	7707328	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:7707328G>A	uc010xjr.2	+	9	886	c.841G>A	c.(841-843)Ggg>Agg	p.G281R	STXBP2_uc002mha.4_Missense_Mutation_p.G270R|STXBP2_uc002mhb.4_Missense_Mutation_p.G267R|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	270					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAGACCACCGGGCTGAGCGA	0.632													A	7707328	G	A	7707328	3	1	83	1	0	0	0	0	1	0	0	0	15352	1116	39	2	846	2	STXBP2	19	7707328	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		7707328	51421655	63	5551											
ATG4D	84971	broad.mit.edu	37	19	10659590	10659590	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:10659590G>A	uc002mov.3	+	5	966	c.846G>A	c.(844-846)gcG>gcA	p.A282A	ATG4D_uc010xlh.2_Silent_p.A219A|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	282					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTACAAGGCGGATGTGGCAC	0.647													A	10659590	G	A	10659590	2	1	83	1	0	0	0	0	0	0	0	1	1099	1103	39	2		2	ATG4D	19	10659590	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	2952262	10659590	48469393	64	5552											
ZNF676	163223	broad.mit.edu	37	19	22363176	22363176	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:22363176G>T	uc002nqs.1	-	2	1661	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGGGTTTCTCTCC	0.433													T	22363176	G	T	22363176	3	4	83	1	0	0	0	0	1	0	0	0	18080	1232	43	5	427	5	ZNF676	19	22363176	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	11703586	22363176	36765807	65	5553											
GRIK5	2901	broad.mit.edu	37	19	42558502	42558502	+	Silent	SNP	G	G	A	rs140981334	by1000genomes	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:42558502G>A	uc002osj.1	-	7	1061	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	GRIK5_uc010eib.1_Silent_p.H261H	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	342						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGCTGGTCCCGTGGGGCCAAA	0.652													A	42558502	G	A	42558502	2	1	83	1	0	0	0	0	0	0	0	1	6777	1136	40	1		1	GRIK5	19	42558502	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	20195326	42558502	16570481	66	5554											
ZNF28	7576	broad.mit.edu	37	19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:53303413C>T	uc002qad.3	-	3	1842	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ZNF28_uc002qac.3_Missense_Mutation_p.R508H|ZNF28_uc010eqe.3_Missense_Mutation_p.R508H|ZNF28_uc021uza.1_Missense_Mutation_p.R509H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413													T	53303413	C	T	53303413	3	4	83	1	0	0	0	0	1	0	0	0	17810	768	27	1	475	1	ZNF28	19	53303413	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	10744911	53303413	5825570	67	5555											
CACNG8	59283	broad.mit.edu	37	19	54466519	54466519	+	Silent	SNP	T	T	G			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:54466519T>G	uc002qcs.2	+	0	230	c.123T>G	c.(121-123)acT>acG	p.T41T		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	41					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CCATCAGCACTGACTACTGGC	0.711													G	54466519	T	G	54466519	2	3	83	1	0	0	0	0	0	0	0	1	2563	1567	55	5		5	CACNG8	19	54466519	Silent	SNP	T	TCGA-06-2567-01A-01D-1494-08	1163106	54466519	4662464	68	5556											
NLRP4	147945	broad.mit.edu	37	19	56370584	56370584	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:56370584G>A	uc002qmd.4	+	2	2247	c.1825G>A	c.(1825-1827)Gtc>Atc	p.V609I	NLRP4_uc002qmf.3_Missense_Mutation_p.V534I|NLRP4_uc010etf.3_Missense_Mutation_p.V440I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	609							ATP binding	p.V609F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGTTCAAAATGTCTTTAAGAA	0.408													A	56370584	G	A	56370584	3	1	83	1	0	0	0	0	1	0	0	0	10479	1377	48	3	1831	3	NLRP4	19	56370584	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	1904065	56370584	2758399	69	5557											
DYNLRB1	83658	broad.mit.edu	37	20	33122583	33122583	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr20:33122583A>T	uc002xal.3	+	2	291	c.231A>T	c.(229-231)gaA>gaT	p.E77D	DYNLRB1_uc010zuk.2_Missense_Mutation_p.E77D	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.	77					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						AGAAAAATGAAATTATGGTTG	0.532													T	33122583	A	T	33122583	3	4	83	1	0	0	0	0	1	0	0	0	4850	11	1	5	241	5	DYNLRB1	20	33122583	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08		33122583	29902937	70	5558											
C21orf91	54149	broad.mit.edu	37	21	19169012	19169012	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr21:19169012C>T	uc002yko.4	-	2	642	c.551G>A	c.(550-552)cGt>cAt	p.R184H	C21orf91_uc002ykq.4_Missense_Mutation_p.R184H|C21orf91_uc002ykp.4_Missense_Mutation_p.R184H	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN	Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.	184										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TACACTGTTACGACATAAAGT	0.433													T	19169012	C	T	19169012	3	4	83	1	0	0	0	0	1	0	0	0	2134	536	19	1	354	1	C21orf91	21	19169012	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		19169012	28960883	71	5559											
WDR4	10785	broad.mit.edu	37	21	44296865	44296865	+	Silent	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr21:44296865G>A	uc002zci.3	-	1	175	c.102C>T	c.(100-102)agC>agT	p.S34S	WDR4_uc002zck.1_Silent_p.S34S|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Silent_p.S34S|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	NM_033661	NP_387510	P57081	WDR4_HUMAN	Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.	34					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		AGATGAAGAGGCTGTCATCAT	0.363													A	44296865	G	A	44296865	2	1	83	1	0	0	0	0	0	0	0	1	17290	1194	42	3		3	WDR4	21	44296865	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	25127853	44296865	3833030	72	5560											
RFPL3	10738	broad.mit.edu	37	22	32756314	32756314	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr22:32756314G>A	uc003amj.3	+	1	654	c.449G>A	c.(448-450)gGg>gAg	p.G150E	RFPL3_uc010gwn.3_Missense_Mutation_p.G121E|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	150	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GTCCGAAGTGGGCTCATCACA	0.542													A	32756314	G	A	32756314	3	1	83	1	0	0	0	0	1	0	0	0	13255	1232	43	3	455	3	RFPL3	22	32756314	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		32756314	18548252	73	5561											
WWC3	55841	broad.mit.edu	37	X	10096666	10096666	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chrX:10096666G>T	uc004csx.4	+	16	2548	c.2350G>T	c.(2350-2352)Gag>Tag	p.E784*	WWC3_uc010nds.3_Nonsense_Mutation_p.E448*|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	784										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACTGGCCGAGGAGCGGGCCAA	0.662													T	10096666	G	T	10096666	4	4	83	1	0	0	0	0	0	1	0	0	17410	1175	41	5	2412	5	WWC3	23	10096666	Nonsense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		10096666	145173894	74	5562											
MSL3	10943	broad.mit.edu	37	X	11780954	11780957	+	Splice_Site	DEL	AGTT	AGTT	-			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chrX:11780954_11780957delAGTT	uc004cuw.3	+	7	694	c.589_splice	c.e7-1	p.L197_splice	MSL3_uc004cuv.1_Splice_Site_p.L197_splice|MSL3_uc011mig.2_Splice_Site_p.L48_splice|MSL3_uc011mih.2_Splice_Site_p.L185_splice|MSL3_uc004cuy.3_Splice_Site_p.L31_splice|MSL3_uc011mii.2_Splice_Site_p.L31_splice	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	197					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTTGTTAACAGTTAGTGAAACTT	0.368													-	11780957	AGTT	-	11780954	8	5	83	1	0	1	0	1	0	0	1	0	9879	202	7	0	613	0	MSL3	23	11780954	Splice_Site	DEL	AGTT	TCGA-06-2567-01A-01D-1494-08	1684288	11780954	143489606	75	5563											
GLIS1	148979	broad.mit.edu	37	1	54060499	54060499	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:54060499A>G	uc001cvr.1	-	2	644	c.77T>C	c.(76-78)cTc>cCc	p.L26P		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	26					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TCGGCCCGGGAGGTCCAGGTC	0.706													G	54060499	A	G	54060499	3	3	84	1	0	0	0	0	1	0	0	0	6445	304	11	4	1817	4	GLIS1	1	54060499	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08		54060499	195190122	1	5564											
TRIM46	80128	broad.mit.edu	37	1	155150608	155150608	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:155150608G>A	uc001fhs.1	+	5	1123	c.1040G>A	c.(1039-1041)aGc>aAc	p.S347N	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.S347N|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.S221N|TRIM46_uc001fhu.1_Missense_Mutation_p.S324N|TRIM46_uc009wpg.1_Missense_Mutation_p.S334N|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	347						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCGTCTCAGCGCCCAGATC	0.622													A	155150608	G	A	155150608	3	1	84	1	0	0	0	0	1	0	0	0	16518	971	34	3	1062	3	TRIM46	1	155150608	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	101090109	155150608	94100013	2	5565											
IGSF8	93185	broad.mit.edu	37	1	160063842	160063842	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:160063842C>T	uc001fva.3	-	2	607	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	IGSF8_uc001fuz.3_Missense_Mutation_p.A188T|IGSF8_uc009wtf.3_Missense_Mutation_p.A188T	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	188	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTGTCCTCGCCAGGCAGCCC	0.677													T	160063842	C	T	160063842	3	4	84	1	0	0	0	0	1	0	0	0	7604	739	26	3	1295	3	IGSF8	1	160063842	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	4913234	160063842	89186779	3	5566											
OBSCN	84033	broad.mit.edu	37	1	228511139	228511139	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:228511139G>A	uc009xez.1	+	55	15528	c.15484G>A	c.(15484-15486)Gat>Aat	p.D5162N	OBSCN_uc001hsn.3_Missense_Mutation_p.D5162N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5162	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTTCAAGGATGGGAAGTT	0.537													A	228511139	G	A	228511139	3	1	84	1	0	0	0	0	1	0	0	0	10812	1174	41	3	15702	3	OBSCN	1	228511139	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	68447297	228511139	20739482	4	5567											
OBSCN	84033	broad.mit.edu	37	1	228511261	228511261	+	Silent	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:228511261G>A	uc009xez.1	+	55	15650	c.15606G>A	c.(15604-15606)gaG>gaA	p.E5202E	OBSCN_uc001hsn.3_Silent_p.E5202E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5202	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.P5202P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCTGGCCGAGAACAGCATGG	0.577													A	228511261	G	A	228511261	2	1	84	1	0	0	0	0	0	0	0	1	10812	933	33	3		3	OBSCN	1	228511261	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08	122	228511261	20739360	5	5568											
HOXD8	3234	broad.mit.edu	37	2	176996300	176996301	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr2:176996300_176996301delAA	uc002uko.3	+	1	1460_1461	c.833_834delAA	c.(832-834)caafs	p.Q278fs	AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Frame_Shift_Del_p.Q94fs|HOXD8_uc002ukp.3_Frame_Shift_Del_p.Q277fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	278					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGGAAGCCCAAGAGCTGGAGG	0.426													-	176996301	AA	-	176996300	7	5	84	1	0	1	0	1	0	0	0	0	7325	130	5	0	839	0	HOXD8	2	176996300	Frame_Shift_Del	DEL	AA	TCGA-06-2569-01A-01D-1494-08		176996300	66203073	6	5569											
TMPRSS7	344805	broad.mit.edu	37	3	111766626	111766626	+	Silent	SNP	T	T	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr3:111766626T>G	uc010hqb.2	+	4	563	c.393T>G	c.(391-393)tcT>tcG	p.S131S	TMPRSS7_uc011bhr.1_5'UTR	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	257					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGCATCTGTCTCTCCACTACC	0.448													G	111766626	T	G	111766626	2	3	84	1	0	0	0	0	0	0	0	1	16249	1538	54	5		5	TMPRSS7	3	111766626	Silent	SNP	T	TCGA-06-2569-01A-01D-1494-08		111766626	86255804	7	5570											
MUC20	200958	broad.mit.edu	37	3	195456549	195456549	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr3:195456549T>C	uc010hzo.3	+	3	1613	c.1487T>C	c.(1486-1488)cTg>cCg	p.L496P	MUC20_uc010hzp.3_Missense_Mutation_p.L461P	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	667	Involved in oligomerization.		Missing.	V -> I (in Ref. 5; AAH29267).	protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTCCTGCGGCTGAGTGTGGCT	0.577													C	195456549	T	C	195456549	3	2	84	1	0	0	0	0	1	0	0	0	9976	1580	55	4	1501	4	MUC20	3	195456549	Missense_Mutation	SNP	T	TCGA-06-2569-01A-01D-1494-08	83689923	195456549	2565881	8	5571											
ATP5I	521	broad.mit.edu	37	4	666298	666298	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr4:666298T>C	uc003gas.3	-	3	292	c.201A>G	c.(199-201)atA>atG	p.I67M	ATP5I_uc003gar.3_Non-coding_Transcript|ATP5I_uc021xkb.1_Non-coding_Transcript|MYL5_uc003gat.3_5'Flank|MYL5_uc003gau.3_5'Flank	NM_007100	NP_009031	P56385	ATP5I_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E (ATP5I), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	67					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2						CTCACTTTAATATGCTGTCAT	0.458													C	666298	T	C	666298	3	2	84	1	0	0	0	0	1	0	0	0	1157	1396	49	4	12	4	ATP5I	4	666298	Missense_Mutation	SNP	T	TCGA-06-2569-01A-01D-1494-08		666298	190487978	9	5572											
ATP10D	57205	broad.mit.edu	37	4	47538903	47538903	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr4:47538903G>T	uc003gxk.1	+	8	1508	c.1344G>T	c.(1342-1344)atG>atT	p.M448I	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.M433I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	448					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAATAAGATGGTTTTTCGAA	0.433													T	47538903	G	T	47538903	3	4	84	1	0	0	0	0	1	0	0	0	1118	1348	47	5	1374	5	ATP10D	4	47538903	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	46872605	47538903	143615373	10	5573											
CCDC99	54908	broad.mit.edu	37	5	169031191	169031191	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr5:169031191A>G	uc003mae.4	+	11	2077	c.1798A>G	c.(1798-1800)Acc>Gcc	p.T600A	CCDC99_uc011deq.2_Missense_Mutation_p.T417A|CCDC99_uc010jjk.3_Missense_Mutation_p.T326A	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	600					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTCCAGAGACCCAGTGCCC	0.358													G	169031191	A	G	169031191	3	3	84	1	0	0	0	0	1	0	0	0	2876	275	10	4	1840	4	CCDC99	5	169031191	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08		169031191	11884069	11	5574											
COL19A1	1310	broad.mit.edu	37	6	70916651	70916651	+	Silent	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr6:70916651G>A	uc003pfc.1	+	49	3387	c.3270G>A	c.(3268-3270)ctG>ctA	p.L1090L		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	1090	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAATTGGGCTGCCAGGGAGTC	0.458													A	70916651	G	A	70916651	2	1	84	1	0	0	0	0	0	0	0	1	3676	1306	46	3		3	COL19A1	6	70916651	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08		70916651	100198416	12	5575											
SDK1	221935	broad.mit.edu	37	7	4153059	4153059	+	Silent	SNP	G	G	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:4153059G>T	uc003smx.3	+	23	3712	c.3573G>T	c.(3571-3573)cgG>cgT	p.R1191R	SDK1_uc010kso.3_Silent_p.R467R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1191	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.R1191W(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGCCTGCGGCTTCGCTGGG	0.637													T	4153059	G	T	4153059	2	4	84	1	0	0	0	0	0	0	0	1	13968	1190	42	5		5	SDK1	7	4153059	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08		4153059	154985604	13	5576											
KBTBD2	25948	broad.mit.edu	37	7	32909138	32909138	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:32909138C>T	uc003tdb.2	-	3	2350	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	564										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TATATGCTGCCGCAGAGACCA	0.463													T	32909138	C	T	32909138	3	4	84	1	0	0	0	0	1	0	0	0	7993	652	23	2	184	2	KBTBD2	7	32909138	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	28756079	32909138	126229525	14	5577											
ELN	2006	broad.mit.edu	37	7	73474491	73474491	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:73474491A>G	uc003tzw.3	+	23	1707	c.1616A>G	c.(1615-1617)aAg>aGg	p.K539R	ELN_uc003tzn.3_Missense_Mutation_p.K533R|ELN_uc003tzy.3_Missense_Mutation_p.K509R|ELN_uc003tzz.3_Missense_Mutation_p.K452R|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Missense_Mutation_p.K444R|ELN_uc003tzq.3_Missense_Mutation_p.K397R|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.K514R|ELN_uc003tzt.3_Missense_Mutation_p.K538R|ELN_uc003tzu.3_Missense_Mutation_p.K519R|ELN_uc003tzv.3_Missense_Mutation_p.K504R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.K523R|ELN_uc011kff.2_Missense_Mutation_p.K533R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	562	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.Q539Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCGCTGCCAAGGTGGCTGCC	0.637			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						G	73474491	A	G	73474491	3	3	84	1	0	0	0	0	1	0	0	0	5071	72	3	4	1707	4	ELN	7	73474491	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08	40565353	73474491	85664172	15	5578											
TRPV5	56302	broad.mit.edu	37	7	142625890	142625890	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:142625890G>T	uc003wby.1	-	5	922	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TRPV5_uc003wbz.3_Missense_Mutation_p.L220M	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	220					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCGTAGGACAGCAGCAGGTTG	0.572													T	142625890	G	T	142625890	3	4	84	1	0	0	0	0	1	0	0	0	16596	962	34	5	1571	5	TRPV5	7	142625890	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	69151399	142625890	16512773	16	5579											
WNK2	65268	broad.mit.edu	37	9	96030181	96030181	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr9:96030181G>T	uc004ati.1	+	15	3850	c.3850G>T	c.(3850-3852)Ggc>Tgc	p.G1284C	WNK2_uc011lud.1_Missense_Mutation_p.G1284C|WNK2_uc004atj.3_Missense_Mutation_p.G1284C|WNK2_uc004atk.3_Missense_Mutation_p.G921C	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1284					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGCACCTGCGGCCTGGGCAC	0.657													T	96030181	G	T	96030181	3	4	84	1	0	0	0	0	1	0	0	0	17375	1116	39	5	3912	5	WNK2	9	96030181	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		96030181	45183250	17	5580											
ANAPC2	29882	broad.mit.edu	37	9	140074735	140074735	+	Silent	SNP	C	C	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr9:140074735C>A	uc004clr.1	-	9	1861	c.1788G>T	c.(1786-1788)ctG>ctT	p.L596L	ANAPC2_uc004clq.1_Silent_p.L452L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	596					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACTCACTGGACAGGATGACAG	0.607													A	140074735	C	A	140074735	2	1	84	1	0	0	0	0	0	0	0	1	603	465	17	5		5	ANAPC2	9	140074735	Silent	SNP	C	TCGA-06-2569-01A-01D-1494-08	44044554	140074735	1138696	18	5581											
LHPP	64077	broad.mit.edu	37	10	126172716	126172716	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr10:126172716G>A	uc001lhs.2	+	1	225	c.134G>A	c.(133-135)cGt>cAt	p.R45H	LHPP_uc001lht.2_Missense_Mutation_p.R45H|LHPP_uc009yai.2_Missense_Mutation_p.R45H	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	Homo sapiens phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP), transcript variant 1, mRNA.	45					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		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;0.163)|Colorectal(40;0.187)		AGACTGAAGCGTTCCCGGCTG	0.617													A	126172716	G	A	126172716	3	1	84	1	0	0	0	0	1	0	0	0	8769	1145	40	1	140	1	LHPP	10	126172716	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		126172716	9362031	19	5582											
RAG1	5896	broad.mit.edu	37	11	36596029	36596029	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr11:36596029G>T	uc021qgb.1	+	0	1175	c.1175G>T	c.(1174-1176)gGg>gTg	p.G392V	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.G392V	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	392					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATTAATAAAGGGGGCCGGCCC	0.478									Familial Hemophagocytic Lymphohistiocytosis				T	36596029	G	T	36596029	3	4	84	1	0	0	0	0	1	0	0	0	13003	1232	43	5	1177	5	RAG1	11	36596029	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		36596029	98410487	20	5583											
MAP6	4135	broad.mit.edu	37	11	75316902	75316902	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr11:75316902C>T	uc001owu.3	-	2	1332	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MAP6_uc001owv.3_Missense_Mutation_p.D423N	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	423						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGCTCCTTGTCGTCTGGCTTG	0.542													T	75316902	C	T	75316902	3	4	84	1	0	0	0	0	1	0	0	0	9264	884	31	2	1186	2	MAP6	11	75316902	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	38720873	75316902	59689614	21	5584											
CLEC4C	170482	broad.mit.edu	37	12	7882275	7882280	+	In_Frame_Del	DEL	AACGGA	AACGGA	-			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr12:7882275_7882280delAACGGA	uc001qtg.1	-	5	728_733	c.554_559delTCCGTT	c.(553-561)ttccgttct>tct	p.FR185del	CLEC4C_uc001qth.1_In_Frame_Del_p.FR185del|CLEC4C_uc001qti.1_In_Frame_Del_p.FR154del	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	185	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TCTTCTGAAGAACGGAAATTTATTAT	0.398													-	7882280	AACGGA	-	7882275	7	5	84	1	0	1	0	1	0	0	0	0	3513	246	9	0	86	0	CLEC4C	12	7882275	In_Frame_Del	DEL	AACGGA	TCGA-06-2569-01A-01D-1494-08		7882275	125969620	22	5585											
TMBIM4	51643	broad.mit.edu	37	12	66547227	66547227	+	Silent	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr12:66547227G>A	uc009zqr.3	-	3	315	c.239_splice	c.e3-1	p.T80_splice	LLPH_uc010ssx.2_Splice_Site|TMBIM4_uc001stc.3_Splice_Site_p.A33_splice|TMBIM4_uc001std.3_Intron|TMBIM4_uc001stf.3_Splice_Site_p.A33_splice|TMBIM4_uc009zqs.3_Splice_Site_p.A33_splice	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	33						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TTCTCAGAAAGGCTAAAAGAG	0.289													A	66547227	G	A	66547227	2	1	84	1	0	0	0	0	0	0	0	1	15979	1014	35	3		3	TMBIM4	12	66547227	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08	58664952	66547227	67304668	23	5586											
WDFY2	115825	broad.mit.edu	37	13	52234797	52234797	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr13:52234797C>G	uc001vfp.3	+	1	543	c.203C>G	c.(202-204)cCt>cGt	p.P68R	WDFY2_uc010ads.1_Missense_Mutation_p.P68R|WDFY2_uc010adt.1_Non-coding_Transcript	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.	68							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CATGCAATGCCTTGTAAGTAT	0.403													G	52234797	C	G	52234797	3	3	84	1	0	0	0	0	1	0	0	0	17266	681	24	5	209	5	WDFY2	13	52234797	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		52234797	62935081	24	5587											
DICER1	23405	broad.mit.edu	37	14	95560476	95560476	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr14:95560476C>G	uc001ydw.2	-	24	5325	c.5113G>C	c.(5113-5115)Gaa>Caa	p.E1705Q	DICER1_uc010avh.1_Missense_Mutation_p.E603Q|DICER1_uc021sbc.1_Missense_Mutation_p.E1705Q|DICER1_uc001ydv.2_Missense_Mutation_p.E1695Q|DICER1_uc001ydx.2_Missense_Mutation_p.E1705Q	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1705	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCCAGGAATTCTAAGCGCTGG	0.527			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				G	95560476	C	G	95560476	3	3	84	1	0	0	0	0	1	0	0	0	4521	922	32	5	671	5	DICER1	14	95560476	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		95560476	11789064	25	5588											
DICER1	23405	broad.mit.edu	37	14	95571502	95571519	+	In_Frame_Del	DEL	AAAGTATGCTGGGGAGAC	AAAGTATGCTGGGGAGAC	-			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr14:95571502_95571519delAAAGTATGCTGGGGAGAC	uc001ydw.2	-	20	3370_3387	c.3158_3175delGTCTCCCCAGCATACTTT	c.(3157-3177)tgtctccccagcatactttat>tat	p.CLPSIL1053del	DICER1_uc010avh.1_5'UTR|DICER1_uc021sbc.1_In_Frame_Del_p.CLPSIL1053del|DICER1_uc001ydv.2_In_Frame_Del_p.CLPSIL1043del|DICER1_uc001ydx.2_In_Frame_Del_p.CLPSIL1053del|DICER1_uc001ydy.1_5'Flank|DICER1_uc021sbd.1_In_Frame_Del_p.CLPSIL335del	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1053					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGAAGGCGATAAAGTATGCTGGGGAGACAAACAGCTTT	0.472			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				-	95571519	AAAGTATGCTGGGGAGAC	-	95571502	7	5	84	1	0	1	0	1	0	0	0	0	4521	362	13	0	2625	0	DICER1	14	95571502	In_Frame_Del	DEL	AAAGTATGCTGGGGAGAC	TCGA-06-2569-01A-01D-1494-08	11026	95571502	11778038	26	5589											
ITGAD	3681	broad.mit.edu	37	16	31422097	31422097	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr16:31422097C>A	uc010cap.1	+	11	1303	c.1254C>A	c.(1252-1254)aaC>aaA	p.N418K	ITGAD_uc002ebv.1_Missense_Mutation_p.N418K	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	418					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			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						GGGTACAGAACCTGGTCCTGG	0.647													A	31422097	C	A	31422097	3	1	84	1	0	0	0	0	1	0	0	0	7884	506	18	5	1300	5	ITGAD	16	31422097	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		31422097	58932656	27	5590											
TP53	7157	broad.mit.edu	37	17	7578456	7578467	+	In_Frame_Del	DEL	GCGGACGCGGGT	GCGGACGCGGGT	-	rs139200646		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:7578456_7578467delGCGGACGCGGGT	uc002gim.2	-	4	657_668	c.463_474delACCCGCGTCCGC	c.(463-474)acccgcgtccgcdel	p.TRVR155del	TP53_uc002gig.1_In_Frame_Del_p.TRVR155del|TP53_uc002gih.3_In_Frame_Del_p.TRVR155del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.TRVR23del|TP53_uc010cnf.1_In_Frame_Del_p.TRVR23del|TP53_uc002gii.1_In_Frame_Del_p.TRVR23del|TP53_uc010cni.1_In_Frame_Del_p.TRVR155del|TP53_uc010cnh.1_In_Frame_Del_p.TRVR155del|TP53_uc002gij.2_In_Frame_Del_p.TRVR155del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.TRVR62del|TP53_uc002gio.2_In_Frame_Del_p.TRVR23del|TP53_uc010vug.2_In_Frame_Del_p.TRVR116del	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.V157F(312)|p.R158H(140)|p.R158L(138)|p.R156P(48)|p.T155N(42)|p.G154V(41)|p.R158C(34)|p.T155P(33)|p.R158G(28)|p.T155I(26)|p.R156fs*14(22)|p.V157I(20)|p.R156H(20)|p.T155A(18)|p.R158P(18)|p.V157D(16)|p.V157G(14)|p.V157L(12)|p.R158fs*12(12)|p.G154G(12)|p.R158R(12)|p.V157V(10)|p.T155T(10)|p.R158fs*11(9)|p.G154S(9)|p.R158_A159insX(8)|p.R26L(8)|p.R65L(8)|p.R158fs(8)|p.0?(8)|p.V25F(6)|p.R156S(6)|p.R156R(6)|p.R156fs*25(6)|p.R156G(6)|p.R156L(6)|p.G154D(6)|p.V64F(6)|p.V157fs*13(6)|p.R26H(5)|p.R65H(5)|p.P152fs*14(5)|p.?(5)|p.T155fs*23(4)|p.V157del(4)|p.V157fs*9(4)|p.R156C(4)|p.G154fs*14(4)|p.R156_I162delRVRAMAI(4)|p.T155S(4)|p.R158_A159delRA(4)|p.V157fs*22(4)|p.V157fs*24(4)|p.G154I(3)|p.G154fs*27(3)|p.R65fs(2)|p.R156_V157del(2)|p.V157A(2)|p.G154_R156delGTR(2)|p.T155fs*25(2)|p.V157_R158delVR(2)|p.R156fs*20(2)|p.R26fs(2)|p.V157_C176del20(2)|p.R156_A161delRVRAMA(2)|p.R156del(2)|p.G154fs*16(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.G154C(2)|p.D148_T155delDSTPPPGT(2)|p.R156_V157insV(2)|p.V157_M160delVRAM(2)|p.T155fs*15(2)|p.T155_A161delTRVRAMA(2)|p.V157_I162delVRAMAI(2)|p.R26G(2)|p.V157fs*21(2)|p.V157fs*25(2)|p.R158fs*24(2)|p.T155fs*26(2)|p.R65G(2)|p.R156_R158delRVR(2)|p.T155_R156delTR(2)|p.R158fs*8(2)|p.P151_V173del23(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157fs*23(2)|p.R158F(2)|p.R158_A159insXX(2)|p.G154fs*22(2)|p.A159fs*11(1)|p.Q144_G154del11(1)|p.R156fs*?(1)|p.R26fs*11(1)|p.T62P(1)|p.G154A(1)|p.A159fs*21(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.R65fs*11(1)|p.P153_G154insX(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.D148fs*23(1)|p.R158_A161del(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)		TGGCCATGGCGCGGACGCGGGTGCCGGGCGGG	0.623		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)			-	7578467	GCGGACGCGGGT	-	7578456	7	5	84	1	0	1	0	1	0	0	0	0	16378	1074	38	0	824	0	TP53	17	7578456	In_Frame_Del	DEL	GCGGACGCGGGT	TCGA-06-2569-01A-01D-1494-08		7578456	73616754	28	5591											
EVI2B	2124	broad.mit.edu	37	17	29631684	29631684	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:29631684C>G	uc010csq.2	-	2	1172	c.989G>C	c.(988-990)gGt>gCt	p.G330A	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.G315A|EVI2B_uc021tuk.1_Missense_Mutation_p.G315A	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	315						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCTGATGTACCATTTACTTG	0.388													G	29631684	C	G	29631684	3	3	84	1	0	0	0	0	1	0	0	0	5288	507	18	5	406	5	EVI2B	17	29631684	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	22053228	29631684	51563526	29	5592											
NF1	4763	broad.mit.edu	37	17	29653042	29653043	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:29653042_29653043insA	uc002hgg.3	+	36	5423_5424	c.5040_5041insA	c.(5038-5043)tataacfs	p.Y1680fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.Y1659fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.Y692fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1680	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTATATCTATAACTGTAACTC	0.46			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29653043	-	A	29653042	7	5	84	1	0	1	1	0	0	0	0	0	10356	1413	49	0	5247	0	NF1	17	29653042	Frame_Shift_Ins	INS	-	TCGA-06-2569-01A-01D-1494-08	21358	29653042	51542168	30	5593											
GAS2L2	246176	broad.mit.edu	37	17	34073121	34073121	+	Silent	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:34073121G>A	uc002hjv.2	-	5	1423	c.1395C>T	c.(1393-1395)gcC>gcT	p.A465A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	465					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGGCACTCGGCTGGGCCAA	0.622													A	34073121	G	A	34073121	2	1	84	1	0	0	0	0	0	0	0	1	6247	1103	39	2		2	GAS2L2	17	34073121	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08	4420079	34073121	47122089	31	5594											
ACACA	31	broad.mit.edu	37	17	35444255	35444255	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:35444255G>A	uc002hnm.3	-	55	7228	c.7037C>T	c.(7036-7038)aCg>aTg	p.T2346M	ACACA_uc002hnk.3_Missense_Mutation_p.T2268M|ACACA_uc002hnl.3_Missense_Mutation_p.T2288M|ACACA_uc002hnn.3_Missense_Mutation_p.T2346M|ACACA_uc002hno.3_Missense_Mutation_p.T2383M|ACACA_uc010cuy.3_Missense_Mutation_p.T991M|ACACA_uc010wdb.2_Missense_Mutation_p.T384M|ACACA_uc010wdc.2_Missense_Mutation_p.T472M	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2346					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCTTCCTACGTGGAAGGGGA	0.517													A	35444255	G	A	35444255	3	1	84	1	0	0	0	0	1	0	0	0	106	1145	40	1	7	1	ACACA	17	35444255	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	1371134	35444255	45750955	32	5595											
FADS6	283985	broad.mit.edu	37	17	72875610	72875610	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:72875610G>C	uc002jmd.1	-	4	842	c.830C>G	c.(829-831)gCg>gGg	p.A277G	FADS6_uc010wrn.1_Missense_Mutation_p.A131G	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	283					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GTGGCCGAACGCCCAGTCCAG	0.612													C	72875610	G	C	72875610	3	2	84	1	0	0	0	0	1	0	0	0	5368	1087	38	5	230	5	FADS6	17	72875610	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	37431355	72875610	8319600	33	5596											
KLK15	55554	broad.mit.edu	37	19	51330190	51330190	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr19:51330190C>A	uc002ptl.3	-	2	456	c.425G>T	c.(424-426)gGc>gTc	p.G142V	KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Missense_Mutation_p.G142V|KLK15_uc002pto.3_Missense_Mutation_p.G141V|KLK15_uc010ych.2_Intron|KLK15_uc010yci.2_Missense_Mutation_p.G141V|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	142	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGGCCCCAGCCAGACACCAC	0.692													A	51330190	C	A	51330190	3	1	84	1	0	0	0	0	1	0	0	0	8403	739	26	5	357	5	KLK15	19	51330190	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		51330190	7798793	34	5597											
CD93	22918	broad.mit.edu	37	20	23065723	23065723	+	Silent	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr20:23065723G>A	uc002wsv.3	-	0	1255	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	369	EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCAACCCAGCATTCGCAGC	0.642													A	23065723	G	A	23065723	2	1	84	1	0	0	0	0	0	0	0	1	3047	963	34	3		3	CD93	20	23065723	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08		23065723	39959797	35	5598											
MANBAL	63905	broad.mit.edu	37	20	35944753	35944753	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr20:35944753A>G	uc002xgu.3	+	3	405	c.193A>G	c.(193-195)Aag>Gag	p.K65E	MANBAL_uc002xgv.3_Missense_Mutation_p.K65E|MANBAL_uc002xgw.3_Non-coding_Transcript	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN	Homo sapiens mannosidase, beta A, lysosomal-like (MANBAL), transcript variant 1, mRNA.	65						integral to membrane				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				GGTGACGAGGAAGCCCAAGGC	0.552													G	35944753	A	G	35944753	3	3	84	1	0	0	0	0	1	0	0	0	9220	247	9	4	199	4	MANBAL	20	35944753	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08	12879030	35944753	27080767	36	5599											
PCDH19	57526	broad.mit.edu	37	X	99663291	99663291	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chrX:99663291G>A	uc010nmz.3	-	0	1981	c.305C>T	c.(304-306)tCg>tTg	p.S102L	PCDH19_uc004efw.4_Missense_Mutation_p.S102L|PCDH19_uc004efx.4_Missense_Mutation_p.S102L	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	102	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACCTCGAGCGAGATGATGCA	0.557													A	99663291	G	A	99663291	3	1	84	1	0	0	0	0	1	0	0	0	11514	1059	37	2	3165	2	PCDH19	23	99663291	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		99663291	55607269	37	5600											
WDR78	79819	broad.mit.edu	37	1	67313167	67313167	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:67313167C>T	uc001dcx.3	-	8	1347	c.1291_splice	c.e8+1	p.E431_splice	WDR78_uc001dcy.3_Splice_Site_p.E431_splice|WDR78_uc009waw.3_Splice_Site_p.E177_splice|WDR78_uc009wax.3_Splice_Site	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	431	Glu-rich.									NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTTAAATACCTTTTAAAACA	0.393													T	67313167	C	T	67313167	3	4	85	1	0	0	0	0	1	0	0	0	17325	695	24	3	1352	3	WDR78	1	67313167	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08		67313167	181937454	1	5601											
FLG	2312	broad.mit.edu	37	1	152278655	152278655	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:152278655C>T	uc001ezu.1	-	2	8743	c.8707G>A	c.(8707-8709)Gac>Aac	p.D2903N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2903	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			CTCTCAGAGTCTTCTGAATGT	0.562									Ichthyosis				T	152278655	C	T	152278655	3	4	85	1	0	0	0	0	1	0	0	0	5922	913	32	3	3482	3	FLG	1	152278655	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	84965488	152278655	96971966	2	5602											
OR2W3	343171	broad.mit.edu	37	1	248059605	248059605	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:248059605C>T	uc010pzb.2	+	0	717	c.717C>T	c.(715-717)ggC>ggT	p.G239G	OR2W3_uc001idp.1_Silent_p.G239G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G239V(1)		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)			AGGCCTTCGGCACCTGCGGCT	0.522													T	248059605	C	T	248059605	2	4	85	1	0	0	0	0	0	0	0	1	11033	697	25	3		3	OR2W3	1	248059605	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08	95780950	248059605	1191016	3	5603											
C2orf55	343990	broad.mit.edu	37	2	99438353	99438353	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:99438353T>C	uc002szf.1	-	6	2677	c.2383A>G	c.(2383-2385)Acg>Gcg	p.T795A		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	795	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTCCGCCGTCCTGGGCTCC	0.721													C	99438353	T	C	99438353	3	2	85	1	0	0	0	0	1	0	0	0	2176	1667	58	4	521	4	C2orf55	2	99438353	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		99438353	143761020	4	5604											
RIF1	55183	broad.mit.edu	37	2	152322631	152322631	+	Silent	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:152322631T>C	uc002txm.3	+	29	6758	c.6597T>C	c.(6595-6597)aaT>aaC	p.N2199N	RIF1_uc002txn.3_Silent_p.N2199N|RIF1_uc002txl.3_Silent_p.N2199N|RIF1_uc002txo.3_Silent_p.N2199N|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2199	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.N2199H(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CACCTGTTAATAAGGTAAGGG	0.398													C	152322631	T	C	152322631	2	2	85	1	0	0	0	0	0	0	0	1	13359	1403	49	4		4	RIF1	2	152322631	Silent	SNP	T	TCGA-06-2570-01A-01D-1495-08	52884278	152322631	90876742	5	5605											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	85	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	56790481	209113112	34086261	6	5606											
RUFY4	285180	broad.mit.edu	37	2	218940356	218940356	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:218940356G>A	uc010fvl.2	+	8	1659	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	RUFY4_uc002vgw.3_Missense_Mutation_p.A208T	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	381							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGGACACGCAACAAAGGA	0.622													A	218940356	G	A	218940356	3	1	85	1	0	0	0	0	1	0	0	0	13741	1087	38	1	1167	1	RUFY4	2	218940356	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	9827244	218940356	24259017	7	5607											
CHRND	1144	broad.mit.edu	37	2	233392979	233392979	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:233392979C>A	uc002vsw.3	+	3	255	c.251C>A	c.(250-252)aCa>aAa	p.T84K	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.T69K|CHRND_uc010zmh.2_5'UTR	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	84					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			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)		CAGGGCTGGACAGACAACCGG	0.577													A	233392979	C	A	233392979	3	1	85	1	0	0	0	0	1	0	0	0	3394	478	17	5	265	5	CHRND	2	233392979	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	14452623	233392979	9806394	8	5608											
FARP2	9855	broad.mit.edu	37	2	242423744	242423744	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:242423744C>T	uc002wbi.2	+	20	2583	c.2419C>T	c.(2419-2421)Ctg>Ttg	p.L807L		NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	807	PH 1.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCAAGGCATGCTGGTGAGTGG	0.587													T	242423744	C	T	242423744	2	4	85	1	0	0	0	0	0	0	0	1	5677	796	28	3		3	FARP2	2	242423744	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08	9030765	242423744	775629	9	5609											
CCR3	1232	broad.mit.edu	37	3	46307517	46307517	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:46307517G>A	uc003cpl.2	+	2	1998	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	CCR3_uc003cpg.2_Missense_Mutation_p.A290T|CCR3_uc003cpk.2_Missense_Mutation_p.A311T|CCR3_uc003cpi.2_Missense_Mutation_p.A290T|CCR3_uc010hjb.2_Missense_Mutation_p.A308T|CCR3_uc003cpj.2_Missense_Mutation_p.A290T|CCR3_uc021wwz.1_Missense_Mutation_p.A290T	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	290					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		p.H323Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGAGGTGATCGCCTACTCCCA	0.522													A	46307517	G	A	46307517	3	1	85	1	0	0	0	0	1	0	0	0	2942	1087	38	1	937	1	CCR3	3	46307517	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		46307517	151714913	10	5610											
DNAH1	25981	broad.mit.edu	37	3	52417902	52417902	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:52417902G>A	uc011bef.2	+	51	8438	c.8177G>A	c.(8176-8178)cGt>cAt	p.R2726H	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2726	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTCCGAGCTCGTCTGAGGCAG	0.587													A	52417902	G	A	52417902	3	1	85	1	0	0	0	0	1	0	0	0	4597	1145	40	1	8379	1	DNAH1	3	52417902	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	6110385	52417902	145604528	11	5611											
PPP2R3A	5523	broad.mit.edu	37	3	135721982	135721982	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:135721982G>A	uc003eqv.2	+	1	2259	c.1642G>A	c.(1642-1644)Ggt>Agt	p.G548S	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	548					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAGTTGACCGGTCAGACCCT	0.398													A	135721982	G	A	135721982	3	1	85	1	0	0	0	0	1	0	0	0	12388	1116	39	2	1644	2	PPP2R3A	3	135721982	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	83304080	135721982	62300448	12	5612											
PIK3CA	5290	broad.mit.edu	37	3	178936083	178936083	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:178936083A>T	uc003fjk.3	+	9	1782	c.1625A>T	c.(1624-1626)gAa>gTa	p.E542V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(686)|p.E542V(16)|p.E542Q(8)|p.E542A(6)|p.(542_545)E>K(4)|p.E542G(3)|p.S541T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178936083	A	T	178936083	3	4	85	1	0	0	0	0	1	0	0	0	11913	246	9	5	1659	5	PIK3CA	3	178936083	Missense_Mutation	SNP	A	TCGA-06-2570-01A-01D-1495-08	43214101	178936083	19086347	13	5613											
LEPREL1	55214	broad.mit.edu	37	3	189681756	189681756	+	Silent	SNP	A	A	G			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:189681756A>G	uc011bsk.2	-	13	2413	c.2025T>C	c.(2023-2025)taT>taC	p.Y675Y	LEPREL1_uc003fsg.3_Silent_p.Y494Y	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	675					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAATTCTCTATAAAGTGGGT	0.483													G	189681756	A	G	189681756	2	3	85	1	0	0	0	0	0	0	0	1	8730	456	16	4		4	LEPREL1	3	189681756	Silent	SNP	A	TCGA-06-2570-01A-01D-1495-08	10745673	189681756	8340674	14	5614											
ADAMTS16	170690	broad.mit.edu	37	5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:5239938G>A	uc003jdl.3	+	15	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R808Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	808	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TGGCCCGGCCGGTACAAATTT	0.512													A	5239938	G	A	5239938	3	1	85	1	0	0	0	0	1	0	0	0	261	1116	39	2	2485	2	ADAMTS16	5	5239938	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		5239938	175675322	15	5615											
SKP2	6502	broad.mit.edu	37	5	36171807	36171807	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:36171807C>A	uc003jkc.2	+	6	1093	c.873C>A	c.(871-873)agC>agA	p.S291R	SKP2_uc003jkd.3_Missense_Mutation_p.S291R|SKP2_uc011cou.2_Missense_Mutation_p.S77R	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	291					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAATCTTAGCGGCTACAGAA	0.463													A	36171807	C	A	36171807	3	1	85	1	0	0	0	0	1	0	0	0	14362	767	27	5	899	5	SKP2	5	36171807	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	30931869	36171807	144743453	16	5616											
HCN1	348980	broad.mit.edu	37	5	45695974	45695974	+	Silent	SNP	G	G	C	rs56063136		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:45695974G>C	uc003jok.3	-	0	247	c.222C>G	c.(220-222)ggC>ggG	p.G74G		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	74	Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G72_G74delGGG(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCGGCTCCTcgccgccgccgc	0.766													C	45695974	G	C	45695974	2	2	85	1	0	0	0	0	0	0	0	1	6996	1074	38	5		5	HCN1	5	45695974	Silent	SNP	G	TCGA-06-2570-01A-01D-1495-08	9524167	45695974	135219286	17	5617											
MAP3K1	4214	broad.mit.edu	37	5	56177898	56177898	+	Silent	SNP	A	A	G			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:56177898A>G	uc003jqw.4	+	13	3372	c.2871A>G	c.(2869-2871)caA>caG	p.Q957Q		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	957					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAATGGTTCAAACAAAAGGCA	0.443													G	56177898	A	G	56177898	2	3	85	1	0	0	0	0	0	0	0	1	9243	11	1	4		4	MAP3K1	5	56177898	Silent	SNP	A	TCGA-06-2570-01A-01D-1495-08	10481924	56177898	124737362	18	5618											
ELOVL7	79993	broad.mit.edu	37	5	60053463	60053463	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:60053463C>T	uc003jsi.4	-	7	709	c.509G>A	c.(508-510)gGa>gAa	p.G170E	ELOVL7_uc011cqo.2_Missense_Mutation_p.G83E|ELOVL7_uc010iwk.3_Missense_Mutation_p.G170E|ELOVL7_uc003jsj.4_Missense_Mutation_p.G157E	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	170					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated 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.G170R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATGGAATGTTCCCAAACCACC	0.378													T	60053463	C	T	60053463	3	4	85	1	0	0	0	0	1	0	0	0	5079	855	30	3	344	3	ELOVL7	5	60053463	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	3875565	60053463	120861797	19	5619											
KCNK16	83795	broad.mit.edu	37	6	39285601	39285601	+	Silent	SNP	G	G	A	rs79043904		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr6:39285601G>A	uc003oor.4	-	2	470	c.456C>T	c.(454-456)gcC>gcT	p.A152A	KCNK16_uc003ooq.3_Silent_p.A152A|KCNK16_uc010jwy.3_Silent_p.A152A|KCNK16_uc011dtz.1_Silent_p.A152A	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	152						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TTTCAATGGCGGCCAGATGGG	0.592													A	39285601	G	A	39285601	2	1	85	1	0	0	0	0	0	0	0	1	8063	1103	39	2		2	KCNK16	6	39285601	Silent	SNP	G	TCGA-06-2570-01A-01D-1495-08		39285601	131829466	20	5620											
AVL9	23080	broad.mit.edu	37	7	32598232	32598232	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:32598232T>C	uc003tcv.1	+	8	817	c.671T>C	c.(670-672)cTt>cCt	p.L224P	AVL9_uc011kai.2_Missense_Mutation_p.L224P|AVL9_uc010kwj.1_Missense_Mutation_p.L65P	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	224						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTTATCCCTTTTTCCAGGT	0.328													C	32598232	T	C	32598232	3	2	85	1	0	0	0	0	1	0	0	0	1228	1609	56	4	705	4	AVL9	7	32598232	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		32598232	126540431	21	5621											
ABCB4	5244	broad.mit.edu	37	7	87069034	87069034	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:87069034C>T	uc003uiv.1	-	13	1756	c.1680G>A	c.(1678-1680)acG>acA	p.T560T	ABCB4_uc003uiw.1_Silent_p.T560T|ABCB4_uc003uix.1_Silent_p.T560T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	560	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCAATGCTGACGTGGCCTCAT	0.537													T	87069034	C	T	87069034	2	4	85	1	0	0	0	0	0	0	0	1	43	523	19	1		1	ABCB4	7	87069034	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08	54470802	87069034	72069629	22	5622											
ABCB1	5243	broad.mit.edu	37	7	87133728	87133728	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:87133728C>T	uc003uiz.2	-	28	4167	c.3674G>A	c.(3673-3675)cGc>cAc	p.R1225H	ABCB1_uc011khc.2_Missense_Mutation_p.R1161H	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1225	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R1225C(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AATGCAGGTGCGGCCTTCTCT	0.453													T	87133728	C	T	87133728	3	4	85	1	0	0	0	0	1	0	0	0	40	768	27	1	172	1	ABCB1	7	87133728	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	64694	87133728	72004935	23	5623											
LRRC6	23639	broad.mit.edu	37	8	133584685	133584685	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr8:133584685A>T	uc003ytk.3	-	11	1344	c.1270T>A	c.(1270-1272)Tca>Aca	p.S424T	LRRC6_uc022bbp.1_Missense_Mutation_p.S424T|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	424						cytoplasm		p.H423Q(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCAGGGAATGAGTGCTTGCTA	0.373													T	133584685	A	T	133584685	3	4	85	1	0	0	0	0	1	0	0	0	9016	304	11	5	134	5	LRRC6	8	133584685	Missense_Mutation	SNP	A	TCGA-06-2570-01A-01D-1495-08		133584685	12779337	24	5624											
NDRG1	10397	broad.mit.edu	37	8	134258899	134258899	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr8:134258899C>T	uc003yuh.2	-	12	1401	c.815G>A	c.(814-816)tGc>tAc	p.C272Y	NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Missense_Mutation_p.C83Y|NDRG1_uc003yug.2_Missense_Mutation_p.C272Y|NDRG1_uc010mee.2_Missense_Mutation_p.C191Y|NDRG1_uc010mef.2_Missense_Mutation_p.C206Y|NDRG1_uc011ljh.1_Missense_Mutation_p.C100Y|NDRG1_uc011lji.1_Missense_Mutation_p.C19Y	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	272					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TTTTGAGTTGCACTCCACCTG	0.473			T	ERG	prostate								T	134258899	C	T	134258899	3	4	85	1	0	0	0	0	1	0	0	0	10251	710	25	3	385	3	NDRG1	8	134258899	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	674214	134258899	12105123	25	5625											
RASEF	158158	broad.mit.edu	37	9	85615141	85615141	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr9:85615141T>C	uc004amo.1	-	11	1927	c.1666A>G	c.(1666-1668)Agt>Ggt	p.S556G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	556					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATGAGGAAACTAGACTTCCCC	0.458													C	85615141	T	C	85615141	3	2	85	1	0	0	0	0	1	0	0	0	13068	1522	53	4	580	4	RASEF	9	85615141	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		85615141	55598290	26	5626											
GYLTL1B	120071	broad.mit.edu	37	11	45945056	45945056	+	Silent	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:45945056T>C	uc001nbv.1	+	2	429	c.318T>C	c.(316-318)caT>caC	p.H106H	GYLTL1B_uc001nbw.1_Silent_p.H75H|GYLTL1B_uc001nbx.1_Silent_p.H106H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	106					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.H106Q(2)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GTGCGGGGCATAACTCCAGCC	0.627													C	45945056	T	C	45945056	2	2	85	1	0	0	0	0	0	0	0	1	6907	1403	49	4		4	GYLTL1B	11	45945056	Silent	SNP	T	TCGA-06-2570-01A-01D-1495-08		45945056	89061460	27	5627											
AMBRA1	55626	broad.mit.edu	37	11	46568697	46568697	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:46568697C>A	uc001ncv.2	-	3	658	c.344G>T	c.(343-345)tGc>tTc	p.C115F	AMBRA1_uc009ylc.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncu.1_Missense_Mutation_p.C115F|AMBRA1_uc010rgu.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncw.2_Missense_Mutation_p.C115F|AMBRA1_uc001ncx.2_Missense_Mutation_p.C115F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	115					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCCATCTAGGCAGCCAGAAGC	0.443													A	46568697	C	A	46568697	3	1	85	1	0	0	0	0	1	0	0	0	565	710	25	5	3346	5	AMBRA1	11	46568697	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	623641	46568697	88437819	28	5628											
DDB2	1643	broad.mit.edu	37	11	47254492	47254492	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:47254492C>T	uc001neb.2	+	3	779	c.584C>T	c.(583-585)gCc>gTc	p.A195V	DDB2_uc001nec.2_Non-coding_Transcript|DDB2_uc009yli.1_Missense_Mutation_p.A131V|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	195					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CGAGTTTTTGCCAGCTCAGAC	0.453			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T	47254492	C	T	47254492	3	4	85	1	0	0	0	0	1	0	0	0	4324	739	26	3	598	3	DDB2	11	47254492	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	685795	47254492	87752024	29	5629											
INTS5	80789	broad.mit.edu	37	11	62416142	62416142	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:62416142C>A	uc001nud.3	-	1	1463	c.1410G>T	c.(1408-1410)ttG>ttT	p.L470F	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	470					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AAAAGGGCACCAAGCGGGGAG	0.592													A	62416142	C	A	62416142	3	1	85	1	0	0	0	0	1	0	0	0	7781	593	21	5	1653	5	INTS5	11	62416142	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	15161650	62416142	72590374	30	5630											
KCNK4	50801	broad.mit.edu	37	11	64064379	64064379	+	Silent	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:64064379G>A	uc001nzj.1	+	2	542	c.219G>A	c.(217-219)gcG>gcA	p.A73A	KCNK4_uc009ypl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzk.1_Missense_Mutation_p.R7Q|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzm.4_Non-coding_Transcript|KCNK4_uc001nzn.1_Silent_p.A73A|KCNK4_uc001nzo.2_Silent_p.A73A|C11orf20_uc009ypm.3_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	Homo sapiens potassium channel, subfamily K, member 4 (KCNK4), mRNA.	73						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GAGGGGGTGCGGACCCAGAAA	0.617													A	64064379	G	A	64064379	2	1	85	1	0	0	0	0	0	0	0	1	8068	1103	39	2		2	KCNK4	11	64064379	Silent	SNP	G	TCGA-06-2570-01A-01D-1495-08	1648237	64064379	70942137	31	5631											
IRAK3	11213	broad.mit.edu	37	12	66597538	66597538	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr12:66597538T>C	uc001sth.3	+	1	283	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	IRAK3_uc010ssy.2_Intron	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	61	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTGAAAAGTATGTAGACCA	0.398													C	66597538	T	C	66597538	3	2	85	1	0	0	0	0	1	0	0	0	7824	1638	57	4	187	4	IRAK3	12	66597538	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		66597538	67254357	32	5632											
STK24	8428	broad.mit.edu	37	13	99127230	99127230	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr13:99127230C>T	uc001vnm.1	-	4	713	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	STK24_uc001vnn.1_Missense_Mutation_p.A148T|STK24_uc010tim.1_Missense_Mutation_p.A129T	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	160	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGACGTTGGCCGCTGCAAAA	0.627													T	99127230	C	T	99127230	3	4	85	1	0	0	0	0	1	0	0	0	15292	739	26	3	881	3	STK24	13	99127230	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08		99127230	16042648	33	5633											
POTEG	404785	broad.mit.edu	37	14	19566050	19566050	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:19566050T>C	uc001vuz.1	+	5	1146	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	365				M -> I (in Ref. 1; AAS58868).						cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAAAAACAGATGCTAAAAGTC	0.318													C	19566050	T	C	19566050	3	2	85	1	0	0	0	0	1	0	0	0	12266	1464	51	4	1116	4	POTEG	14	19566050	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		19566050	87783490	34	5634											
NFATC4	4776	broad.mit.edu	37	14	24838971	24838971	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:24838971C>T	uc001wpc.3	+	1	688	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	NFATC4_uc010alr.3_Missense_Mutation_p.P186S|NFATC4_uc010tok.2_Missense_Mutation_p.P186S|NFATC4_uc010tol.2_Missense_Mutation_p.P186S|NFATC4_uc010als.2_Missense_Mutation_p.P136S|NFATC4_uc010too.2_Missense_Mutation_p.P136S|NFATC4_uc010tom.2_Missense_Mutation_p.P136S|NFATC4_uc010ton.2_Missense_Mutation_p.P136S|NFATC4_uc010toq.2_Missense_Mutation_p.P155S|NFATC4_uc010alt.3_Missense_Mutation_p.P155S|NFATC4_uc010top.2_Missense_Mutation_p.P155S|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.P123S|NFATC4_uc010tos.2_Missense_Mutation_p.P53S|NFATC4_uc010tot.2_Missense_Mutation_p.P111S|NFATC4_uc010tou.2_Missense_Mutation_p.P53S|NFATC4_uc010tov.2_Missense_Mutation_p.P111S|NFATC4_uc010tow.2_Missense_Mutation_p.P53S|NFATC4_uc010alv.3_Missense_Mutation_p.P111S|NFATC4_uc010tox.2_Missense_Mutation_p.P53S	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	123	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTCCATCTCTCCCACGCCGGA	0.677													T	24838971	C	T	24838971	3	4	85	1	0	0	0	0	1	0	0	0	10365	855	30	3	566	3	NFATC4	14	24838971	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	5272921	24838971	82510569	35	5635											
MLH3	27030	broad.mit.edu	37	14	75514227	75514227	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:75514227G>C	uc001xrd.1	-	1	2348	c.2132C>G	c.(2131-2133)tCt>tGt	p.S711C	MLH3_uc001xre.1_Missense_Mutation_p.S711C|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	711					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGATGTATCAGATAATATGCA	0.363								Mismatch excision repair (MMR)					C	75514227	G	C	75514227	3	2	85	1	0	0	0	0	1	0	0	0	9618	942	33	5	2277	5	MLH3	14	75514227	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	50675256	75514227	31835313	36	5636											
PKD1L2	114780	broad.mit.edu	37	16	81134885	81134885	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr16:81134885G>A	uc002fgh.1	-	44	7217	c.7217C>T	c.(7216-7218)tCg>tTg	p.S2406L	PKD1L2_uc002fgf.1_Missense_Mutation_p.S208L|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2408	Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			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						CCCTTCCTCCGACAGCTGCAA	0.443													A	81134885	G	A	81134885	3	1	85	1	0	0	0	0	1	0	0	0	11965	1059	37	2	160	2	PKD1L2	16	81134885	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		81134885	9219868	37	5637											
TP53	7157	broad.mit.edu	37	17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:7578524G>C	uc002gim.2	-	4	600	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.3_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.2_Missense_Mutation_p.Q97E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136*(67)|p.C135Y(53)|p.C135F(39)|p.C135W(22)|p.C135S(11)|p.C135R(9)|p.C135fs*35(9)|p.0?(8)|p.C135G(7)|p.C135*(7)|p.Q136E(6)|p.C135C(5)|p.Q136H(5)|p.C135fs*9(4)|p.Q136Q(4)|p.Q136P(3)|p.Q136fs*34(3)|p.Q136fs*13(3)|p.F134_T140>S(2)|p.Q136R(2)|p.K132_A138delKMFCQLA(2)|p.Q136K(2)|p.S127_Q136del10(2)|p.C135fs*14(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.C135_T140delCQLAKT(2)|p.C135_Q136insXXXXXX(2)|p.C135_Q136insX(2)|p.Q136L(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			C	7578524	G	C	7578524	3	2	85	1	0	0	0	0	1	0	0	0	16378	1357	47	5	892	5	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		7578524	73616686	38	5638											
SPATA20	64847	broad.mit.edu	37	17	48626428	48626428	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:48626428C>T	uc002ird.3	+	5	682	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Missense_Mutation_p.P121S|SPATA20_uc002irf.3_Missense_Mutation_p.P165S|SPATA20_uc010wmv.1_Missense_Mutation_p.P191S|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	165					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGGGGCTGGCCCATGAATGT	0.657													T	48626428	C	T	48626428	3	4	85	1	0	0	0	0	1	0	0	0	15005	739	26	3	563	3	SPATA20	17	48626428	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	41047904	48626428	32568782	39	5639											
TYK2	7297	broad.mit.edu	37	19	10473108	10473108	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr19:10473108G>A	uc002moc.4	-	10	1879	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	TYK2_uc010dxe.3_Missense_Mutation_p.R316W|TYK2_uc002mod.2_Missense_Mutation_p.R501W	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	501	SH2; atypical.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTTCGGAGCCGCAAGCTCTGC	0.677													A	10473108	G	A	10473108	3	1	85	1	0	0	0	0	1	0	0	0	16807	1086	38	1	2122	1	TYK2	19	10473108	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		10473108	48655875	40	5640											
CDH4	1002	broad.mit.edu	37	20	60504710	60504710	+	Silent	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr20:60504710C>T	uc002ybn.2	+	12	2137	c.2049C>T	c.(2047-2049)gcC>gcT	p.A683A	CDH4_uc002ybr.2_Silent_p.A646A|CDH4_uc002ybp.2_Silent_p.A609A	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	683	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.A683A(4)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCTGGAGGCCGGGATGTATG	0.547													T	60504710	C	T	60504710	2	4	85	1	0	0	0	0	0	0	0	1	3112	639	23	2		2	CDH4	20	60504710	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08		60504710	2520810	41	5641											
KRTAP12-4	386684	broad.mit.edu	37	21	46074201	46074201	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr21:46074201C>T	uc002zfs.1	-	0	376	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	111						keratin filament				lung(4)|ovary(1)|prostate(1)	6						GCTCAGCAGCCAGTGGGGGTG	0.622													T	46074201	C	T	46074201	3	4	85	1	0	0	0	0	1	0	0	0	8521	594	21	3	11	3	KRTAP12-4	21	46074201	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08		46074201	2055694	42	5642											
CDKL5	6792	broad.mit.edu	37	X	18597977	18597977	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:18597977G>A	uc004cym.3	+	5	545	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CDKL5_uc004cyn.3_Missense_Mutation_p.E98K|CDKL5_uc022btn.1_Missense_Mutation_p.E89K	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	98	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAATATGCTCGAATTGCTGGA	0.328													A	18597977	G	A	18597977	3	1	85	1	0	0	0	0	1	0	0	0	3157	1059	37	2	310	2	CDKL5	23	18597977	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		18597977	136672583	43	5643											
ZNF81	347344	broad.mit.edu	37	X	47775519	47775519	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:47775519C>A	uc022bvq.1	+	4	1723	c.1474C>A	c.(1474-1476)Cat>Aat	p.H492N	ZNF81_uc010nhy.2_Missense_Mutation_p.H492N	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	492						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TAAGAGAATTCATACAGGAGA	0.413													A	47775519	C	A	47775519	3	1	85	1	0	0	0	0	1	0	0	0	18171	826	29	5	1488	5	ZNF81	23	47775519	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	29177542	47775519	107495041	44	5644											
ATRX	546	broad.mit.edu	37	X	76909633	76909636	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:76909633_76909636delTTTC	uc004ecp.4	-	13	4501_4504	c.4269_4272delGAAA	c.(4267-4272)aagaaafs	p.K1423fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1385fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1208fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K1355fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1423					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TACGTCGCCTTTTCTTTTTCTGTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76909636	TTTC	-	76909633	7	5	85	1	0	1	0	1	0	0	0	0	1208	1838	64	0	3294	0	ATRX	23	76909633	Frame_Shift_Del	DEL	TTTC	TCGA-06-2570-01A-01D-1495-08	29134114	76909633	78360927	45	5645											
TRIM62	55223	broad.mit.edu	37	1	33625475	33625475	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:33625475C>T	uc001bxb.3	-	2	1213	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	192						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCCTTCTGGCGTTCACGCAG	0.652													T	33625475	C	T	33625475	3	4	86	1	0	0	0	0	1	0	0	0	16534	768	27	1	864	1	TRIM62	1	33625475	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		33625475	215625146	1	5646											
TIE1	7075	broad.mit.edu	37	1	43779028	43779028	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:43779028G>A	uc001ciu.3	+	12	2327	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	TIE1_uc010okd.2_Missense_Mutation_p.R717H|TIE1_uc010oke.2_Missense_Mutation_p.R672H|TIE1_uc009vwq.3_Missense_Mutation_p.R673H|TIE1_uc010okf.1_Missense_Mutation_p.R362H|TIE1_uc010okg.2_Missense_Mutation_p.R362H	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	717	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACCTCTTCCGCATGCGGGCC	0.657													A	43779028	G	A	43779028	3	1	86	1	0	0	0	0	1	0	0	0	15890	1087	38	1	2200	1	TIE1	1	43779028	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	10153553	43779028	205471593	2	5647											
ZNHIT6	54680	broad.mit.edu	37	1	86173500	86173504	+	Frame_Shift_Del	DEL	CTTCT	CTTCT	-			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:86173500_86173504delCTTCT	uc001dlh.3	-	0	613_617	c.464_468delAGAAG	c.(463-468)gagaagfs	p.E155fs	ZNHIT6_uc010osc.2_Frame_Shift_Del_p.E116fs	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	155	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	p.E155K(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCAAGTTATCCTTCTCTTCCTTCAC	0.41													-	86173504	CTTCT	-	86173500	7	5	86	1	0	1	0	1	0	0	0	0	18206	680	24	0	984	0	ZNHIT6	1	86173500	Frame_Shift_Del	DEL	CTTCT	TCGA-06-5408-01A-01D-1696-08	42394472	86173500	163077121	3	5648											
FLG2	388698	broad.mit.edu	37	1	152325024	152325024	+	Silent	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:152325024T>C	uc001ezw.4	-	2	5311	c.5238A>G	c.(5236-5238)ggA>ggG	p.G1746G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1746							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGAGTGTGTCCTGAATGTG	0.502													C	152325024	T	C	152325024	2	2	86	1	0	0	0	0	0	0	0	1	5923	1654	58	4		4	FLG2	1	152325024	Silent	SNP	T	TCGA-06-5408-01A-01D-1696-08	66151524	152325024	96925597	4	5649											
F5	2153	broad.mit.edu	37	1	169484809	169484809	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:169484809G>A	uc001ggg.1	-	23	6546	c.6401C>T	c.(6400-6402)aCg>aTg	p.T2134M		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2134	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TATAATTGCCGTTATCTTCTT	0.388													A	169484809	G	A	169484809	3	1	86	1	0	0	0	0	1	0	0	0	5348	1145	40	1	281	1	F5	1	169484809	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	17159785	169484809	79765812	5	5650											
SELE	6401	broad.mit.edu	37	1	169698774	169698774	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:169698774G>A	uc001ggm.4	-	5	913	c.756C>T	c.(754-756)ttC>ttT	p.F252F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	252	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.F252F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACATTCCACGAACCCATTGG	0.428													A	169698774	G	A	169698774	2	1	86	1	0	0	0	0	0	0	0	1	14013	1049	37	2		2	SELE	1	169698774	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	213965	169698774	79551847	6	5651											
CAD	790	broad.mit.edu	37	2	27459352	27459352	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:27459352C>T	uc002rji.3	+	25	4437	c.4275C>T	c.(4273-4275)ccC>ccT	p.P1425P	CAD_uc010eyw.3_Silent_p.P1362P	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1425	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCTCCGTGCCCCTAATCATCG	0.557													T	27459352	C	T	27459352	2	4	86	1	0	0	0	0	0	0	0	1	2565	610	22	3		3	CAD	2	27459352	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08		27459352	215740021	7	5652											
STRN	6801	broad.mit.edu	37	2	37078198	37078198	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:37078198C>T	uc002rpn.3	-	15	2040	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	STRN_uc010ezx.3_Silent_p.P640P	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	677				P -> S (in Ref. 1; CAA11560).	dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGATGCTGATCGGAAGAGTAG	0.303													T	37078198	C	T	37078198	2	4	86	1	0	0	0	0	0	0	0	1	15328	871	31	2		2	STRN	2	37078198	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	9618846	37078198	206121175	8	5653											
XIRP2	129446	broad.mit.edu	37	2	167760222	167760222	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:167760222A>G	uc002udx.3	+	1	319	c.230A>G	c.(229-231)gAg>gGg	p.E77G	XIRP2_uc010fpn.3_Missense_Mutation_p.E77G|XIRP2_uc010fpo.3_Missense_Mutation_p.E77G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding			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						AAGCCGGAAGAGAAGGATTCT	0.522													G	167760222	A	G	167760222	3	3	86	1	0	0	0	0	1	0	0	0	17427	304	11	4	232	4	XIRP2	2	167760222	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	130682024	167760222	75439151	9	5654											
TRAK2	66008	broad.mit.edu	37	2	202252532	202252532	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:202252532G>A	uc002uyb.4	-	12	2036	c.1590C>T	c.(1588-1590)agC>agT	p.S530S		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	530				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGGCAAGGCTCTCTGTCG	0.512													A	202252532	G	A	202252532	2	1	86	1	0	0	0	0	0	0	0	1	16447	1194	42	3		3	TRAK2	2	202252532	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	34492310	202252532	40946841	10	5655											
CXCR2	3579	broad.mit.edu	37	2	218999840	218999840	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:218999840G>A	uc002vgz.2	+	3	526	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	CXCR2_uc002vha.2_Missense_Mutation_p.A106T|CXCR2_uc002vhb.2_Missense_Mutation_p.A106T|CXCR2_uc021vwp.1_Missense_Mutation_p.A106T	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	106					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.A105A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATCTGGGCCGCCTCCAAGGT	0.552													A	218999840	G	A	218999840	3	1	86	1	0	0	0	0	1	0	0	0	4091	1087	38	1	318	1	CXCR2	2	218999840	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	16747308	218999840	24199533	11	5656											
SCN10A	6336	broad.mit.edu	37	3	38770174	38770174	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:38770174G>A	uc003ciq.3	-	14	2499	c.2499C>T	c.(2497-2499)caC>caT	p.H833H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	833					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAAGAAGTCGTGCATGTGCC	0.512													A	38770174	G	A	38770174	2	1	86	1	0	0	0	0	0	0	0	1	13912	1136	40	1		1	SCN10A	3	38770174	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08		38770174	159252256	12	5657											
CCR1	1230	broad.mit.edu	37	3	46245393	46245393	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:46245393C>T	uc003cph.1	-	1	483	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.A138T	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	138					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCAAACACGGCGTGGACGATG	0.512													T	46245393	C	T	46245393	3	4	86	1	0	0	0	0	1	0	0	0	2939	768	27	1	659	1	CCR1	3	46245393	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	7475219	46245393	151777037	13	5658											
PRR23B	389151	broad.mit.edu	37	3	138739096	138739096	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:138739096G>A	uc003esy.1	-	0	673	c.408C>T	c.(406-408)gtC>gtT	p.V136V		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	136										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCTCGACGACGACGTCCT	0.652													A	138739096	G	A	138739096	2	1	86	1	0	0	0	0	0	0	0	1	12595	1045	37	2		2	PRR23B	3	138739096	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	92493703	138739096	59283334	14	5659											
MFSD7	84179	broad.mit.edu	37	4	680063	680063	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:680063G>A	uc003gay.3	-	2	380	c.323C>T	c.(322-324)gCc>gTc	p.A108V	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.A108V|MFSD7_uc003gaz.3_Intron	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	108					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACACTCCCGGCAAAGTTCAG	0.657													A	680063	G	A	680063	3	1	86	1	0	0	0	0	1	0	0	0	9537	1203	42	3	1388	3	MFSD7	4	680063	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		680063	190474213	15	5660											
LPHN3	23284	broad.mit.edu	37	4	62598628	62598628	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:62598628A>G	uc010ihh.3	+	4	724	c.551A>G	c.(550-552)gAg>gGg	p.E184G	LPHN3_uc003hcq.4_Missense_Mutation_p.E184G|LPHN3_uc010ihg.1_Missense_Mutation_p.E252G|LPHN3_uc003hcs.1_Missense_Mutation_p.E13G	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	184	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCCTGACTGAGTATTCATCC	0.493													G	62598628	A	G	62598628	3	3	86	1	0	0	0	0	1	0	0	0	8917	304	11	4	569	4	LPHN3	4	62598628	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	61918565	62598628	128555648	16	5661											
CARD6	84674	broad.mit.edu	37	5	40852866	40852866	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:40852866G>A	uc003jmg.3	+	2	1507	c.1432G>A	c.(1432-1434)Gcc>Acc	p.A478T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	478					apoptosis|regulation of apoptosis	intracellular		p.P477H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTCAGCCCTGCCCAGTTGAA	0.433													A	40852866	G	A	40852866	3	1	86	1	0	0	0	0	1	0	0	0	2650	1319	46	3	1442	3	CARD6	5	40852866	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		40852866	140062394	17	5662											
ATOX1	475	broad.mit.edu	37	5	151125916	151125916	+	Silent	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:151125916T>C	uc003luk.3	-	2	275	c.177A>G	c.(175-177)ggA>ggG	p.G59G		NM_004045	NP_004036	O00244	ATOX1_HUMAN	Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1), mRNA.	59	HMA.				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AAACAGTCTTTCCTGTTTTCT	0.542													C	151125916	T	C	151125916	2	2	86	1	0	0	0	0	0	0	0	1	1115	1770	62	4		4	ATOX1	5	151125916	Silent	SNP	T	TCGA-06-5408-01A-01D-1696-08	110273050	151125916	29789344	18	5663											
MBOAT1	154141	broad.mit.edu	37	6	20118736	20118736	+	Missense_Mutation	SNP	T	T	C	rs150163538		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:20118736T>C	uc003ncx.1	-	8	1148	c.943A>G	c.(943-945)Agc>Ggc	p.S315G	MBOAT1_uc011dji.1_Missense_Mutation_p.S166G	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	315					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TCCACTCCGCTGAACCCAAAG	0.393													C	20118736	T	C	20118736	3	2	86	1	0	0	0	0	1	0	0	0	9356	1580	55	4	564	4	MBOAT1	6	20118736	Missense_Mutation	SNP	T	TCGA-06-5408-01A-01D-1696-08		20118736	150996331	19	5664											
GRM4	2914	broad.mit.edu	37	6	34008523	34008523	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:34008523G>A	uc003oir.4	-	5	1534	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	GRM4_uc011dsn.2_Missense_Mutation_p.R344C|GRM4_uc010jvh.3_Missense_Mutation_p.R391C|GRM4_uc010jvi.3_Missense_Mutation_p.R83C|GRM4_uc003oio.3_Missense_Mutation_p.R83C|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R251C|GRM4_uc003oiq.3_Missense_Mutation_p.R258C|GRM4_uc011dsm.2_Missense_Mutation_p.R222C	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	391					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)	ATTCGCTCACGGTCTGCAATG	0.597													A	34008523	G	A	34008523	3	1	86	1	0	0	0	0	1	0	0	0	6799	1116	39	2	1587	2	GRM4	6	34008523	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	13889787	34008523	137106544	20	5665											
VEGFA	7422	broad.mit.edu	37	6	43752359	43752359	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:43752359A>T	uc003owh.3	+	7					VEGFA_uc003owd.3_3'UTR|VEGFA_uc010jyx.3_3'UTR|VEGFA_uc003owf.3_3'UTR|VEGFA_uc003owg.3_3'UTR|VEGFA_uc003owe.3_3'UTR|VEGFA_uc021yzu.1_3'UTR|VEGFA_uc003owj.3_3'UTR|VEGFA_uc003owi.3_Missense_Mutation_p.K370N|VEGFA_uc003owk.3_Non-coding_Transcript	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.						basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	TCACCAGGAAAGACTGATACA	0.527													T	43752359	A	T	43752359	3	4	86	1	0	0	0	0	1	0	0	0	17147	69	3	5	1289	5	VEGFA	6	43752359	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	9743836	43752359	127362708	21	5666											
ZNF92	168374	broad.mit.edu	37	7	64864755	64864755	+	Silent	SNP	C	C	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:64864755C>A	uc003ttz.3	+	3	1871	c.1728C>A	c.(1726-1728)tcC>tcA	p.S576S	ZNF92_uc003tua.3_Silent_p.S507S|ZNF92_uc010kzu.3_Silent_p.S544S|ZNF92_uc003tub.3_Silent_p.S500S|ZNF92_uc022afd.1_Non-coding_Transcript	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	576						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTAACAAATCCTCAAATTATA	0.348													A	64864755	C	A	64864755	2	1	86	1	0	0	0	0	0	0	0	1	18198	668	24	5		5	ZNF92	7	64864755	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08		64864755	94273908	22	5667											
MTERF	7978	broad.mit.edu	37	7	91503564	91503564	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:91503564A>G	uc003ulc.1	-	2	620	c.544T>C	c.(544-546)Ttc>Ctc	p.F182L	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.F162L|MTERF_uc010leu.1_Missense_Mutation_p.F162L	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	182					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GAGTAGAGGAACTTTATATTA	0.378													G	91503564	A	G	91503564	3	3	86	1	0	0	0	0	1	0	0	0	9918	43	2	4	659	4	MTERF	7	91503564	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	26638809	91503564	67635099	23	5668											
CCDC132	55610	broad.mit.edu	37	7	92883220	92883220	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:92883220C>G	uc003umo.3	+	3	401	c.273C>G	c.(271-273)gaC>gaG	p.D91E	CCDC132_uc003ump.3_Missense_Mutation_p.D61E|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.D91E	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	91										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGTATAGAGACAAATTGAAAC	0.323													G	92883220	C	G	92883220	3	3	86	1	0	0	0	0	1	0	0	0	2767	477	17	5	287	5	CCDC132	7	92883220	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	1379656	92883220	66255443	24	5669											
WNT2	7472	broad.mit.edu	37	7	116960744	116960744	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:116960744G>A	uc003viz.3	-	1	487	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	63					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTAATGGCACGCATCACATCT	0.607													A	116960744	G	A	116960744	3	1	86	1	0	0	0	0	1	0	0	0	17383	1087	38	1	911	1	WNT2	7	116960744	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	24077524	116960744	42177919	25	5670											
UBN2	254048	broad.mit.edu	37	7	138978177	138978177	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:138978177C>T	uc011kqr.2	+	15	3869	c.3869C>T	c.(3868-3870)aCc>aTc	p.T1290I		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1290										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TCGGGATCTACCTCAGCCGCT	0.502													T	138978177	C	T	138978177	3	4	86	1	0	0	0	0	1	0	0	0	16890	507	18	3	3931	3	UBN2	7	138978177	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	22017433	138978177	20160486	26	5671											
KEL	3792	broad.mit.edu	37	7	142651272	142651272	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:142651272T>C	uc003wcb.3	-	8	1134	c.924_splice	c.e8+1	p.K308_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	308					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)					TCCAGGCACCTTGAGCTGGTC	0.547													C	142651272	T	C	142651272	3	2	86	1	0	0	0	0	1	0	0	0	8142	1623	56	4	1323	4	KEL	7	142651272	Missense_Mutation	SNP	T	TCGA-06-5408-01A-01D-1696-08	3673095	142651272	16487391	27	5672											
XKR4	114786	broad.mit.edu	37	8	56436491	56436491	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:56436491G>A	uc003xsf.3	+	2	1690	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	553						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCAACAACCGCAGTGTTGTC	0.592													A	56436491	G	A	56436491	3	1	86	1	0	0	0	0	1	0	0	0	17430	1087	38	1	1668	1	XKR4	8	56436491	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		56436491	89927531	28	5673											
JPH1	56704	broad.mit.edu	37	8	75171693	75171693	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:75171693C>T	uc003yae.3	-	2	1225	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	JPH1_uc003yaf.3_Silent_p.A395A|JPH1_uc003yag.1_Silent_p.A259A	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAGCGGCCAGCGCGGCCTGGT	0.592													T	75171693	C	T	75171693	2	4	86	1	0	0	0	0	0	0	0	1	7960	755	27	1		1	JPH1	8	75171693	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	18735202	75171693	71192329	29	5674											
GEM	2669	broad.mit.edu	37	8	95262754	95262754	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:95262754C>T	uc003ygi.3	-	4	799	c.675G>A	c.(673-675)caG>caA	p.Q225Q	GEM_uc003ygj.3_Silent_p.Q225Q	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	225					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACGTTGTGCTGGACAGCTG	0.562													T	95262754	C	T	95262754	2	4	86	1	0	0	0	0	0	0	0	1	6329	796	28	3		3	GEM	8	95262754	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	20091061	95262754	51101268	30	5675											
TTC18	118491	broad.mit.edu	37	10	75051125	75051125	+	Missense_Mutation	SNP	G	G	A	rs141991496		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr10:75051125G>A	uc009xrc.3	-	19	2429	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	TTC18_uc001jty.3_Missense_Mutation_p.R770W|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Missense_Mutation_p.R151W	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	770							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAAGCATCCGTGCCTGAAGC	0.423													A	75051125	G	A	75051125	3	1	86	1	0	0	0	0	1	0	0	0	16682	1144	40	1	1093	1	TTC18	10	75051125	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		75051125	60483622	31	5676											
MMP21	118856	broad.mit.edu	37	10	127462500	127462500	+	Silent	SNP	C	C	T	rs138636566		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr10:127462500C>T	uc001liu.3	-	1	597	c.597G>A	c.(595-597)gcG>gcA	p.A199A		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	199					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGAAGGCCAGCGCCACAATGC	0.701													T	127462500	C	T	127462500	2	4	86	1	0	0	0	0	0	0	0	1	9660	755	27	1		1	MMP21	10	127462500	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	52411375	127462500	8072247	32	5677											
CNGA4	1262	broad.mit.edu	37	11	6261559	6261559	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:6261559G>A	uc001mco.3	+	3	650	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.V139I	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	179					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTTTTGTCGTCATCCATTG	0.597													A	6261559	G	A	6261559	3	1	86	1	0	0	0	0	1	0	0	0	3599	1145	40	1	549	1	CNGA4	11	6261559	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		6261559	128744957	33	5678											
RAG2	5897	broad.mit.edu	37	11	36614338	36614338	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:36614338G>T	uc021qge.1	-	0	1381	c.1381C>A	c.(1381-1383)Ctg>Atg	p.L461M	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.L461M|RAG2_uc021qgd.1_Missense_Mutation_p.L461M|RAG2_uc001mwv.4_Missense_Mutation_p.L461M|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	461					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CGTTCTGCCAGATCCATGCAC	0.498									Familial Hemophagocytic Lymphohistiocytosis				T	36614338	G	T	36614338	3	4	86	1	0	0	0	0	1	0	0	0	13005	933	33	5	206	5	RAG2	11	36614338	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	30352779	36614338	98392178	34	5679											
ACCS	84680	broad.mit.edu	37	11	44105037	44105037	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:44105037G>A	uc009yks.1	+	13	1462	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.V440M	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	440							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGACAACAAGGTGCTGCTGTC	0.572													A	44105037	G	A	44105037	3	1	86	1	0	0	0	0	1	0	0	0	133	1261	44	3	1368	3	ACCS	11	44105037	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	7490699	44105037	90901479	35	5680											
OR5L2	26338	broad.mit.edu	37	11	55594870	55594870	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:55594870T>A	uc001nhy.1	+	0	176	c.176T>A	c.(175-177)gTg>gAg	p.V59E		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	59			V -> M (in dbSNP:rs56711116).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V59M(1)|p.P58>?(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)				CACACCCCCGTGTACTTTTTC	0.468										HNSCC(27;0.073)			A	55594870	T	A	55594870	3	1	86	1	0	0	0	0	1	0	0	0	11171	1696	59	5	178	5	OR5L2	11	55594870	Missense_Mutation	SNP	T	TCGA-06-5408-01A-01D-1696-08	11489833	55594870	79411646	36	5681											
SLC22A9	114571	broad.mit.edu	37	11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:63174115G>A	uc001nww.3	+	6	1488	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	407					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483													A	63174115	G	A	63174115	3	1	86	1	0	0	0	0	1	0	0	0	14461	1058	37	2	1246	2	SLC22A9	11	63174115	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	7579245	63174115	71832401	37	5682											
STYK1	55359	broad.mit.edu	37	12	10772903	10772903	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:10772903C>T	uc001qys.2	-	10	1630	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	370	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGGTGAGGGGCGGTCAGCCTC	0.527										HNSCC(73;0.22)			T	10772903	C	T	10772903	3	4	86	1	0	0	0	0	1	0	0	0	15358	768	27	1	163	1	STYK1	12	10772903	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		10772903	123078992	38	5683											
TMEM5	10329	broad.mit.edu	37	12	64202634	64202634	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:64202634C>T	uc001srq.1	+	5	1198	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I	TMEM5_uc001srs.1_Missense_Mutation_p.T105I	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	365						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGTGGGAATACATCTGTGCAC	0.478													T	64202634	C	T	64202634	3	4	86	1	0	0	0	0	1	0	0	0	16171	478	17	3	1116	3	TMEM5	12	64202634	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	53429731	64202634	69649261	39	5684											
OAS2	4939	broad.mit.edu	37	12	113447011	113447011	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:113447011G>T	uc001tuj.3	+	9	2155	c.2015G>T	c.(2014-2016)gGg>gTg	p.G672V	OAS2_uc001tui.1_Missense_Mutation_p.G672V	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	672	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.D671N(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTCAAGGATGGGACTGGAAAC	0.502													T	113447011	G	T	113447011	3	4	86	1	0	0	0	0	1	0	0	0	10800	1232	43	5	2124	5	OAS2	12	113447011	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	49244377	113447011	20404884	40	5685											
FREM2	341640	broad.mit.edu	37	13	39422735	39422735	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:39422735C>T	uc001uwv.3	+	7	6616	c.6307C>T	c.(6307-6309)Cgc>Tgc	p.R2103C	FREM2_uc001uww.3_Missense_Mutation_p.R189C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2103	Calx-beta 3.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTGGTGCTTCGCATGCCTAT	0.463													T	39422735	C	T	39422735	3	4	86	1	0	0	0	0	1	0	0	0	6045	884	31	2	6337	2	FREM2	13	39422735	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		39422735	75747143	41	5686											
MED4	29079	broad.mit.edu	37	13	48669208	48669208	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:48669208C>T	uc001vby.1	-	0	33	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	MED4_uc010tgf.1_5'UTR	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	Homo sapiens mediator complex subunit 4 (MED4), mRNA.	3					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|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			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CTCGAAGACGCAGCCATTTTC	0.662											OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48669208	C	T	48669208	3	4	86	1	0	0	0	0	1	0	0	0	9450	710	25	3	833	3	MED4	13	48669208	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	9246473	48669208	66500670	42	5687											
ABCC4	10257	broad.mit.edu	37	13	95715015	95715015	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:95715015G>C	uc001vmd.4	-	25	3428	c.3309C>G	c.(3307-3309)atC>atG	p.I1103M	ABCC4_uc010afj.3_5'UTR|ABCC4_uc010afk.3_Missense_Mutation_p.I1056M	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1103	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CAGTTGTCAAGATCTTATCAA	0.423													C	95715015	G	C	95715015	3	2	86	1	0	0	0	0	1	0	0	0	55	932	33	5	692	5	ABCC4	13	95715015	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	47045807	95715015	19454863	43	5688											
RTN1	6252	broad.mit.edu	37	14	60212584	60212584	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:60212584G>A	uc001xen.1	-	1	1066	c.857C>T	c.(856-858)aCg>aTg	p.T286M		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	286					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTCTATTTCCGTCAGTGTGAT	0.458													A	60212584	G	A	60212584	3	1	86	1	0	0	0	0	1	0	0	0	13725	1145	40	1	1570	1	RTN1	14	60212584	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		60212584	47136956	44	5689											
AHNAK2	113146	broad.mit.edu	37	14	105417146	105417146	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:105417146C>T	uc010axc.1	-	6	4762	c.4642G>A	c.(4642-4644)Gct>Act	p.A1548T	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1448T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1548						nucleus		p.A1548S(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)			TCCAGGTCAGCAGAAGGGGGC	0.642													T	105417146	C	T	105417146	3	4	86	1	0	0	0	0	1	0	0	0	415	710	25	3	12749	3	AHNAK2	14	105417146	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	45204562	105417146	1932394	45	5690											
ATP10A	57194	broad.mit.edu	37	15	25966826	25966827	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:25966826_25966827insAC	uc010ayu.3	-	6	1446_1447	c.1340_1341insGT	c.(1339-1341)gtafs	p.V447fs		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	447					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAGAATATTCTACACCAGACAC	0.46													AC	25966827	-	AC	25966826	7	5	86	1	0	1	1	0	0	0	0	0	1116	1509	53	0	3218	0	ATP10A	15	25966826	Frame_Shift_Ins	INS	-	TCGA-06-5408-01A-01D-1696-08		25966826	76564566	46	5691											
CYP11A1	1583	broad.mit.edu	37	15	74635350	74635350	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:74635350C>T	uc002axt.2	-	4	1113	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	CYP11A1_uc002axs.2_Missense_Mutation_p.V162I|CYP11A1_uc010bjm.1_Missense_Mutation_p.V162I|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.V100I	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	320					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	p.N319H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	ATCTCTGTGACGTTGGCCTTG	0.602													T	74635350	C	T	74635350	3	4	86	1	0	0	0	0	1	0	0	0	4144	536	19	1	627	1	CYP11A1	15	74635350	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	48668524	74635350	27896042	47	5692											
WDR90	197335	broad.mit.edu	37	16	703407	703407	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:703407G>A	uc002cii.1	+	10	1243	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	WDR90_uc002cig.1_Missense_Mutation_p.V397M|WDR90_uc002cih.1_Missense_Mutation_p.V398M|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	397										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGTCCTGCTCGTGGACACGGG	0.701													A	703407	G	A	703407	3	1	86	1	0	0	0	0	1	0	0	0	17334	1145	40	1	1231	1	WDR90	16	703407	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		703407	89651346	48	5693											
TMEM186	25880	broad.mit.edu	37	16	8890029	8890029	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:8890029C>T	uc002cze.3	-	1	456	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PMM2_uc002czf.4_5'Flank|PMM2_uc010uyf.2_5'Flank|PMM2_uc010uyg.2_5'Flank|PMM2_uc010uyh.2_5'Flank|PMM2_uc010buj.3_5'Flank|PMM2_uc010uyi.2_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	Homo sapiens transmembrane protein 186 (TMEM186), mRNA.	141						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ATGGGCCACCCGCAGCATGGT	0.557													T	8890029	C	T	8890029	3	4	86	1	0	0	0	0	1	0	0	0	16105	652	23	2	223	2	TMEM186	16	8890029	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	8186622	8890029	81464724	49	5694											
MMP2	4313	broad.mit.edu	37	16	55525753	55525753	+	Silent	SNP	C	C	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:55525753C>T	uc002ehz.4	+	7	1532	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	MMP2_uc010vhd.2_Silent_p.H331H|MMP2_uc010ccc.3_Silent_p.H357H	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	407	Collagenase-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGTTTGGCCACGCCATGGGGC	0.577													T	55525753	C	T	55525753	2	4	86	1	0	0	0	0	0	0	0	1	9658	535	19	1		1	MMP2	16	55525753	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	46635724	55525753	34829000	50	5695											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			T	7577120	C	T	7577120	3	4	86	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		7577120	73618090	51	5696											
GAS7	8522	broad.mit.edu	37	17	9822945	9822945	+	Silent	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:9822945A>G	uc002gmg.1	-	11	1377	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	GAS7_uc010vvc.1_Silent_p.L220L|GAS7_uc002gmh.1_Silent_p.L266L|GAS7_uc010vvd.1_Silent_p.L358L|GAS7_uc002gmi.2_Silent_p.L342L|GAS7_uc002gmj.1_Silent_p.L346L|GAS7_uc010coh.1_Silent_p.L346L	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	406					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCGCTTACCAATGTGGTGGTC	0.567			T	MLL	AML*								G	9822945	A	G	9822945	2	3	86	1	0	0	0	0	0	0	0	1	6250	98	4	4		4	GAS7	17	9822945	Silent	SNP	A	TCGA-06-5408-01A-01D-1696-08	2245825	9822945	71372265	52	5697											
NF1	4763	broad.mit.edu	37	17	29587504	29587504	+	Silent	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:29587504G>A	uc002hgg.3	+	33	4931	c.4548G>A	c.(4546-4548)gaG>gaA	p.E1516E	NF1_uc002hgh.3_Silent_p.E1495E|NF1_uc002hgi.1_Silent_p.E528E	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1516					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAATCAGGAGAAAATTGGGC	0.388			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29587504	G	A	29587504	2	1	86	1	0	0	0	0	0	0	0	1	10356	933	33	3		3	NF1	17	29587504	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	19764559	29587504	51607706	53	5698											
KRT9	3857	broad.mit.edu	37	17	39724810	39724810	+	Missense_Mutation	SNP	G	G	A	rs116216460	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:39724810G>A	uc002hxe.4	-	4	1186	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	374	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ACACCGTGCCGGAGCTGGGTC	0.547													A	39724810	G	A	39724810	3	1	86	1	0	0	0	0	1	0	0	0	8501	1115	39	2	763	2	KRT9	17	39724810	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	10137306	39724810	41470400	54	5699											
MUC16	94025	broad.mit.edu	37	19	9088857	9088857	+	Silent	SNP	T	T	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr19:9088857T>A	uc002mkp.3	-	0	3162	c.2958A>T	c.(2956-2958)tcA>tcT	p.S986S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	986	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S986L(1)		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						TGGCAGAGGTTGAAACAGTGG	0.463													A	9088857	T	A	9088857	2	1	86	1	0	0	0	0	0	0	0	1	9973	1799	63	5		5	MUC16	19	9088857	Silent	SNP	T	TCGA-06-5408-01A-01D-1696-08		9088857	50040126	55	5700											
CYP4F12	66002	broad.mit.edu	37	19	15791225	15791225	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr19:15791225G>A	uc002nbl.3	+	4	540	c.421G>A	c.(421-423)Ggt>Agt	p.G141S	CYP4F12_uc010xoo.2_Missense_Mutation_p.G141S|CYP4F12_uc010xop.2_Missense_Mutation_p.R172Q	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											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)					GCTGAGTGGCGGTGACAAGTG	0.552													A	15791225	G	A	15791225	3	1	86	1	0	0	0	0	1	0	0	0	4187	1116	39	2	435	2	CYP4F12	19	15791225	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	6702368	15791225	43337758	56	5701											
SLC5A4	6527	broad.mit.edu	37	22	32634986	32634986	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr22:32634986A>G	uc003ami.3	-	5	571	c.569T>C	c.(568-570)gTt>gCt	p.V190A		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	190					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGGTGTAAACAGCAGTCAT	0.448													G	32634986	A	G	32634986	3	3	86	1	0	0	0	0	1	0	0	0	14667	43	2	4	1450	4	SLC5A4	22	32634986	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08		32634986	18669580	57	5702											
DNAJB7	150353	broad.mit.edu	37	22	41257669	41257669	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr22:41257669G>T	uc003azj.3	-	0	462	c.330C>A	c.(328-330)caC>caA	p.H110Q	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	110					protein folding		heat shock protein binding|unfolded protein binding	p.H110Q(2)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTCAAAGAAGTGAAAAGAAA	0.388													T	41257669	G	T	41257669	3	4	86	1	0	0	0	0	1	0	0	0	4625	1020	36	5	603	5	DNAJB7	22	41257669	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	8622683	41257669	10046897	58	5703											
MST4	51765	broad.mit.edu	37	X	131205232	131205232	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chrX:131205232G>A	uc004ewk.1	+	7	1220	c.919G>A	c.(919-921)Gag>Aag	p.E307K	MST4_uc004ewl.1_Missense_Mutation_p.E230K|MST4_uc011mux.1_Missense_Mutation_p.E329K|MST4_uc010nrj.1_Missense_Mutation_p.E307K|MST4_uc004ewm.1_Missense_Mutation_p.E245K	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	307					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATCTGATTCCGAGGGCTCTGA	0.348													A	131205232	G	A	131205232	3	1	86	1	0	0	0	0	1	0	0	0	9892	1059	37	2	945	2	MST4	23	131205232	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		131205232	24065328	59	5704											
C1orf112	55732	broad.mit.edu	37	1	169772375	169772375	+	Silent	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr1:169772375C>T	uc001ggq.3	+	4	937	c.237C>T	c.(235-237)tcC>tcT	p.S79S	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggo.3_Silent_p.S79S|C1orf112_uc001ggp.3_Silent_p.S79S|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Silent_p.S50S|C1orf112_uc009wvu.1_Silent_p.S50S|C1orf112_uc001ggr.3_5'UTR|C1orf112_uc010plv.2_Silent_p.S21S	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	79										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACAGGAATCCATCATTTTGG	0.378													T	169772375	C	T	169772375	2	4	87	1	0	0	0	0	0	0	0	1	1985	581	21	3		3	C1orf112	1	169772375	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		169772375	79478246	1	5705											
SI	6476	broad.mit.edu	37	3	164786544	164786544	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr3:164786544G>T	uc003fei.3	-	4	512	c.449C>A	c.(448-450)aCt>aAt	p.T150N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	150	Isomaltase.				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			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)	CTGATTTTGAGTTGTGAAGAG	0.393										HNSCC(35;0.089)			T	164786544	G	T	164786544	3	4	87	1	0	0	0	0	1	0	0	0	14297	1029	36	5	5210	5	SI	3	164786544	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		164786544	33235886	2	5706											
PYDC2	152138	broad.mit.edu	37	3	191179074	191179074	+	Silent	SNP	C	C	T	rs141891926	by1000genomes	TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr3:191179074C>T	uc011bso.2	+	0	123	c.123C>T	c.(121-123)acC>acT	p.T41T		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.	41	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCTACAGACCGTCCCCCAGA	0.542													T	191179074	C	T	191179074	2	4	87	1	0	0	0	0	0	0	0	1	12859	639	23	2		2	PYDC2	3	191179074	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	26392530	191179074	6843356	3	5707											
KLHL5	51088	broad.mit.edu	37	4	39116788	39116788	+	Silent	SNP	C	C	G			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr4:39116788C>G	uc003gtr.2	+	9	2332	c.2049C>G	c.(2047-2049)ccC>ccG	p.P683P	KLHL5_uc003gtp.3_Silent_p.P637P|KLHL5_uc003gtq.3_Silent_p.P496P|KLHL5_uc003gts.3_Silent_p.P683P|KLHL5_uc003gtt.3_Silent_p.P622P	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	683						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GATATGATCCCAAAACAGACA	0.383													G	39116788	C	G	39116788	2	3	87	1	0	0	0	0	0	0	0	1	8392	581	21	5		5	KLHL5	4	39116788	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		39116788	152037488	4	5708											
GPRIN3	285513	broad.mit.edu	37	4	90170302	90170302	+	Silent	SNP	C	C	T	rs145721148	byFrequency	TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr4:90170302C>T	uc003hsm.1	-	1	1479	c.960G>A	c.(958-960)gcG>gcA	p.A320A	GPRIN3_uc021xqb.1_Silent_p.A320A	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	320								p.A320V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTGCACCTCCGCATCTTGCC	0.537													T	90170302	C	T	90170302	2	4	87	1	0	0	0	0	0	0	0	1	6731	639	23	2		2	GPRIN3	4	90170302	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	51053514	90170302	100983974	5	5709											
HEATR7B2	133558	broad.mit.edu	37	5	41048449	41048449	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:41048449G>A	uc003jmj.4	-	15	2151	c.1661C>T	c.(1660-1662)cCt>cTt	p.P554L	HEATR7B2_uc003jmi.4_Missense_Mutation_p.P109L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	554							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAGAAGCTCAGGTAAACGTGT	0.468													A	41048449	G	A	41048449	3	1	87	1	0	0	0	0	1	0	0	0	7035	1000	35	3	3204	3	HEATR7B2	5	41048449	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		41048449	139866811	6	5710											
KCTD16	57528	broad.mit.edu	37	5	143853547	143853547	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:143853547A>C	uc003lnm.1	+	3	1786	c.1157A>C	c.(1156-1158)aAa>aCa	p.K386T	KCTD16_uc003lnn.1_Missense_Mutation_p.K386T	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	386						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AAAGCTGTTAAAGAAAAGCTC	0.443													C	143853547	A	C	143853547	3	2	87	1	0	0	0	0	1	0	0	0	8103	14	1	5	1163	5	KCTD16	5	143853547	Missense_Mutation	SNP	A	TCGA-06-5410-01A-01D-1696-08	102805098	143853547	37061713	7	5711											
UNC5A	90249	broad.mit.edu	37	5	176301527	176301527	+	Silent	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:176301527C>T	uc003mey.3	+	7	1530	c.1338C>T	c.(1336-1338)acC>acT	p.T446T	UNC5A_uc010jkg.1_Silent_p.T406T	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	446	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|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)			CCTATGGGACCTTCAACTTCC	0.627													T	176301527	C	T	176301527	2	4	87	1	0	0	0	0	0	0	0	1	16988	668	24	3		3	UNC5A	5	176301527	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	32447980	176301527	4613733	8	5712											
GRM3	2913	broad.mit.edu	37	7	86469103	86469103	+	Missense_Mutation	SNP	C	C	T	rs141671463		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:86469103C>T	uc003uid.3	+	3	3372	c.2273C>T	c.(2272-2274)aCg>aTg	p.T758M	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.T630M|GRM3_uc010leh.3_Missense_Mutation_p.T350M	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	758					synaptic transmission	integral to plasma membrane		p.T758M(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCCTTCAAAACGCGGAAGTGC	0.428													T	86469103	C	T	86469103	3	4	87	1	0	0	0	0	1	0	0	0	6798	536	19	1	2283	1	GRM3	7	86469103	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08		86469103	72669560	9	5713											
CYP3A7	1577	broad.mit.edu	37	7	99262902	99262902	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:99262902C>G	uc003urq.3	-	6	659	c.557G>C	c.(556-558)gGc>gCc	p.G186A	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.G73A|CYP3A7_uc011kiy.2_Missense_Mutation_p.G176A|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	186					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAATGATGTGCCAGTAATCAC	0.418													G	99262902	C	G	99262902	3	3	87	1	0	0	0	0	1	0	0	0	4181	739	26	5		5	CYP3A7	7	99262902	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	12793799	99262902	59875761	10	5714											
PIP	5304	broad.mit.edu	37	7	142836647	142836647	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:142836647G>A	uc003wcf.1	+	3	389	c.353G>A	c.(352-354)cGg>cAg	p.R118Q		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	118						extracellular region	actin binding	p.R118L(2)|p.R118R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453													A	142836647	G	A	142836647	3	1	87	1	0	0	0	0	1	0	0	0	11935	1116	39	2	367	2	PIP	7	142836647	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	43573745	142836647	16302016	11	5715											
DMRT3	58524	broad.mit.edu	37	9	990484	990484	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr9:990484G>A	uc003zgw.1	+	1	936	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	300					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			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)		GCGAACTTCCGCAGAACCTGA	0.582													A	990484	G	A	990484	3	1	87	1	0	0	0	0	1	0	0	0	4587	1087	38	1	904	1	DMRT3	9	990484	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		990484	140222947	12	5716											
DLG5	9231	broad.mit.edu	37	10	79566617	79566617	+	Silent	SNP	C	C	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr10:79566617C>A	uc001jzk.3	-	25	4936	c.4866G>T	c.(4864-4866)gtG>gtT	p.V1622V	DLG5_uc001jzi.3_Silent_p.V377V|DLG5_uc001jzj.3_Silent_p.V1037V|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1622	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGTGTCATCCACGTAGAGGA	0.572													A	79566617	C	A	79566617	2	1	87	1	0	0	0	0	0	0	0	1	4558	581	21	5		5	DLG5	10	79566617	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		79566617	55968130	13	5717											
OR8H2	390151	broad.mit.edu	37	11	55873242	55873242	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:55873242G>A	uc010riy.2	+	0	724	c.724G>A	c.(724-726)Gtc>Atc	p.V242I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V242I(2)|p.C241*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCTACTTGCGTCTCTCATCT	0.383										HNSCC(53;0.14)			A	55873242	G	A	55873242	3	1	87	1	0	0	0	0	1	0	0	0	11238	1145	40	1	726	1	OR8H2	11	55873242	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		55873242	79133274	14	5718											
GLYATL2	219970	broad.mit.edu	37	11	58602091	58602091	+	Silent	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:58602091G>A	uc001nnd.4	-	5	827	c.696C>T	c.(694-696)taC>taT	p.Y232Y	GLYATL2_uc009ymq.3_Silent_p.Y232Y	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	232						mitochondrion	glycine N-acyltransferase activity			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)	CTTGGTGTCTGTATTTGGGGA	0.413													A	58602091	G	A	58602091	2	1	87	1	0	0	0	0	0	0	0	1	6481	1372	48	3		3	GLYATL2	11	58602091	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	2728849	58602091	76404425	15	5719											
CTTN	2017	broad.mit.edu	37	11	70279266	70279266	+	Silent	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:70279266G>A	uc001opv.4	+	15	1532	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	CTTN_uc001opu.3_Silent_p.P405P|CTTN_uc001opw.4_Silent_p.P405P|CTTN_uc010rqm.2_Silent_p.P126P|CTTN_uc001opx.3_Silent_p.P126P	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	442						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGACGGAGCCGGAGCCCGTGT	0.652													A	70279266	G	A	70279266	2	1	87	1	0	0	0	0	0	0	0	1	4044	1103	39	2		2	CTTN	11	70279266	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	11677175	70279266	64727250	16	5720											
DYNC2H1	79659	broad.mit.edu	37	11	103014114	103014114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:103014114C>T	uc001phn.1	+	17	2836	c.2692C>T	c.(2692-2694)Cga>Tga	p.R898*	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Nonsense_Mutation_p.R898*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	898	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAAGTAGAACGACTTCCAAG	0.363													T	103014114	C	T	103014114	4	4	87	1	0	0	0	0	0	1	0	0	4846	528	19	1	2762	1	DYNC2H1	11	103014114	Nonsense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	32734848	103014114	31992402	17	5721											
BCL2L14	79370	broad.mit.edu	37	12	12232401	12232401	+	Silent	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:12232401C>T	uc001rac.3	+	1	363	c.162C>T	c.(160-162)tcC>tcT	p.S54S	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Silent_p.S54S|BCL2L14_uc001rae.3_Silent_p.S54S	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	54					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	p.S54S(2)		large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GAAGTTTGTCCCAGAGGGGCC	0.488													T	12232401	C	T	12232401	2	4	87	1	0	0	0	0	0	0	0	1	1372	610	22	3		3	BCL2L14	12	12232401	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		12232401	121619494	18	5722											
LIMA1	51474	broad.mit.edu	37	12	50575756	50575756	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:50575756C>T	uc001rwj.4	-	9	1379	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	LIMA1_uc001rwg.4_Missense_Mutation_p.R100H|LIMA1_uc001rwh.4_Missense_Mutation_p.R241H|LIMA1_uc001rwi.4_Missense_Mutation_p.R243H|LIMA1_uc001rwk.4_Missense_Mutation_p.R403H|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	402	LIM zinc-binding.				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGCCAAGAGACGCTCCATTGG	0.473													T	50575756	C	T	50575756	3	4	87	1	0	0	0	0	1	0	0	0	8796	536	19	1	1082	1	LIMA1	12	50575756	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	38343355	50575756	83276139	19	5723											
DGKA	1606	broad.mit.edu	37	12	56330335	56330335	+	Silent	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:56330335G>A	uc001sij.3	+	1	312	c.48G>A	c.(46-48)ctG>ctA	p.L16L	DGKA_uc009zoc.1_Silent_p.L16L|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Silent_p.L16L|DGKA_uc009zoe.1_Silent_p.L16L|DGKA_uc001sik.3_Silent_p.L16L|DGKA_uc001sil.3_Silent_p.L16L|DGKA_uc001sim.3_Silent_p.L16L|DGKA_uc001sin.3_Silent_p.L16L|DGKA_uc009zof.3_5'UTR|DGKA_uc001sio.3_5'UTR	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	16					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			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TTGCCCAGCTGCAAAAATACA	0.527													A	56330335	G	A	56330335	2	1	87	1	0	0	0	0	0	0	0	1	4465	1306	46	3		3	DGKA	12	56330335	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	5754579	56330335	77521560	20	5724											
FREM2	341640	broad.mit.edu	37	13	39266205	39266205	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr13:39266205T>G	uc001uwv.3	+	0	5033	c.4724T>G	c.(4723-4725)gTg>gGg	p.V1575G		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1575					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1575M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCACCCAGGTGCCTATTCAT	0.418													G	39266205	T	G	39266205	3	3	87	1	0	0	0	0	1	0	0	0	6045	1696	59	5	4726	5	FREM2	13	39266205	Missense_Mutation	SNP	T	TCGA-06-5410-01A-01D-1696-08		39266205	75903673	21	5725											
CHD8	57680	broad.mit.edu	37	14	21871325	21871325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr14:21871325G>A	uc001war.2	-	16	3630	c.3565C>T	c.(3565-3567)Cag>Tag	p.Q1189*	CHD8_uc001was.2_Nonsense_Mutation_p.Q910*|CHD8_uc001wav.1_Nonsense_Mutation_p.Q352*	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1189	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATGGCAGCCTGTCGAAGGTTG	0.478													A	21871325	G	A	21871325	4	1	87	1	0	0	0	0	0	1	0	0	3331	1386	48	3	4264	3	CHD8	14	21871325	Nonsense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		21871325	85478215	22	5726											
LRFN5	145581	broad.mit.edu	37	14	42360496	42360496	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr14:42360496G>C	uc001wvm.3	+	3	2627	c.1429G>C	c.(1429-1431)Gct>Cct	p.A477P	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	477	Fibronectin type-III.					integral to membrane		p.L476V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAATAATCTGGCTGCTGGAAC	0.403										HNSCC(30;0.082)			C	42360496	G	C	42360496	3	2	87	1	0	0	0	0	1	0	0	0	8941	1203	42	5	1435	5	LRFN5	14	42360496	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	20489171	42360496	64989044	23	5727											
ZNF263	10127	broad.mit.edu	37	16	3339555	3339555	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:3339555A>G	uc002cuq.3	+	5	1381	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	350					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CCTCCCCCAGAGGGTGGAATG	0.617													G	3339555	A	G	3339555	3	3	87	1	0	0	0	0	1	0	0	0	17800	304	11	4	1071	4	ZNF263	16	3339555	Missense_Mutation	SNP	A	TCGA-06-5410-01A-01D-1696-08		3339555	87015198	24	5728											
ADCY9	115	broad.mit.edu	37	16	4016471	4016471	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:4016471C>T	uc002cvx.3	-	10	3906	c.3367G>A	c.(3367-3369)Gcg>Acg	p.A1123T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1123	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGCCTGCGCGGTGTTCAGC	0.602													T	4016471	C	T	4016471	3	4	87	1	0	0	0	0	1	0	0	0	301	768	27	1	698	1	ADCY9	16	4016471	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	676916	4016471	86338282	25	5729											
NF1	4763	broad.mit.edu	37	17	29533304	29533304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr17:29533304C>A	uc002hgg.3	+	11	1690	c.1307C>A	c.(1306-1308)tCg>tAg	p.S436*	NF1_uc002hge.2_Nonsense_Mutation_p.S436*|NF1_uc002hgf.2_Nonsense_Mutation_p.S436*|NF1_uc002hgh.3_Nonsense_Mutation_p.S436*|NF1_uc010csn.2_Nonsense_Mutation_p.S296*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	436					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATTGTCACTCGGTTGAACTT	0.413			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29533304	C	A	29533304	4	1	87	1	0	0	0	0	0	1	0	0	10356	893	31	5	1353	5	NF1	17	29533304	Nonsense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08		29533304	51661906	26	5730											
CYP4F11	57834	broad.mit.edu	37	19	16034748	16034748	+	Silent	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:16034748G>A	uc002nbu.2	-	6	828	c.792C>T	c.(790-792)caC>caT	p.H264H	CYP4F11_uc010eab.1_Silent_p.H264H|CYP4F11_uc002nbt.2_Silent_p.H264H	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	264					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGTGAAGTCGTGCACCAGGT	0.527													A	16034748	G	A	16034748	2	1	87	1	0	0	0	0	0	0	0	1	4186	1136	40	1		1	CYP4F11	19	16034748	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08		16034748	43094235	27	5731											
USE1	55850	broad.mit.edu	37	19	17329200	17329200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:17329200C>T	uc002nfo.2	+	6	482	c.422_splice	c.e6+1	p.T141_splice	USE1_uc002nfn.2_3'UTR|USE1_uc010eal.1_Splice_Site_p.T141_splice	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.	141					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						AGGAAGAGAACGTGAGTGTCT	0.582													T	17329200	C	T	17329200	3	4	87	1	0	0	0	0	1	0	0	0	17028	550	19	1	444	1	USE1	19	17329200	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	1294452	17329200	41799783	28	5732											
PSG3	5669	broad.mit.edu	37	19	43382389	43382389	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:43382389C>T	uc002ovd.1	-	1	244	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.V36I|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.V36I|PSG3_uc002ova.2_Missense_Mutation_p.V36I|PSG3_uc002ouz.2_Missense_Mutation_p.V36I|PSG3_uc002ovb.3_Missense_Mutation_p.V36I	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	36	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.V36V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCAATCGTGACTTGGGCAGTG	0.463													T	43382389	C	T	43382389	3	4	87	1	0	0	0	0	1	0	0	0	12656	565	20	3		3	PSG3	19	43382389	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	26053189	43382389	15746594	29	5733											
CACNG6	59285	broad.mit.edu	37	19	54503003	54503003	+	Silent	SNP	A	A	G			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:54503003A>G	uc002qct.3	+	2	1112	c.522A>G	c.(520-522)ggA>ggG	p.G174G	CACNG6_uc002qcu.3_Intron|CACNG6_uc002qcv.3_Intron	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	174						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		TCCGAGTTGGAGCCGTCTGCT	0.587													G	54503003	A	G	54503003	2	3	87	1	0	0	0	0	0	0	0	1	2561	291	11	4		4	CACNG6	19	54503003	Silent	SNP	A	TCGA-06-5410-01A-01D-1696-08	11120614	54503003	4625980	30	5734											
SYN3	8224	broad.mit.edu	37	22	32937634	32937634	+	Silent	SNP	G	G	A	rs148217218		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr22:32937634G>A	uc003amx.3	-	6	1002	c.840C>T	c.(838-840)taC>taT	p.Y280Y	SYN3_uc003amy.3_Silent_p.Y280Y|SYN3_uc003amz.3_Silent_p.Y279Y	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	280	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGGTGGTGGCGTAGGTTTTGG	0.552													A	32937634	G	A	32937634	2	1	87	1	0	0	0	0	0	0	0	1	15439	1140	40	1		1	SYN3	22	32937634	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08		32937634	18366932	31	5735											
ZBED1	9189	broad.mit.edu	37	X	2407462	2407462	+	Silent	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:2407462C>T	uc022brx.1	-	0	1299	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.T433T|ZBED1_uc004cqg.2_Silent_p.T433T|ZBED1_uc022brw.1_Silent_p.T433T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	433						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.T433T(2)		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)				TGATGTTGAGCGTGGTGTTCA	0.597													T	2407462	C	T	2407462	2	4	87	1	0	0	0	0	0	0	0	1	17514	755	27	1		1	ZBED1	23	2407462	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		2407462	152863098	32	5736											
RAI2	10742	broad.mit.edu	37	X	17818684	17818684	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:17818684G>C	uc022btm.1	-	0	1447	c.1447C>G	c.(1447-1449)Caa>Gaa	p.Q483E	RAI2_uc004cyf.3_Missense_Mutation_p.Q483E|RAI2_uc004cyg.3_Missense_Mutation_p.Q483E|RAI2_uc011miy.2_Missense_Mutation_p.Q433E|RAI2_uc022btl.1_Missense_Mutation_p.Q483E|RAI2_uc004cyh.4_Missense_Mutation_p.Q483E|RAI2_uc010nfa.3_Missense_Mutation_p.Q483E	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	483					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TCTTCCCCTTGGCTGTTGATG	0.468													C	17818684	G	C	17818684	3	2	87	1	0	0	0	0	1	0	0	0	13009	1357	47	5	149	5	RAI2	23	17818684	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	15411222	17818684	137451876	33	5737											
EIF2S3	1968	broad.mit.edu	37	X	24073154	24073154	+	Silent	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:24073154G>A	uc004dbc.3	+	1	90	c.69_splice	c.e1+1	p.L23_splice		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	23						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TCACCACCTTGGTGAGGTTTT	0.587											OREG0019714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24073154	G	A	24073154	2	1	87	1	0	0	0	0	0	0	0	1	5011	1362	47	3		3	EIF2S3	23	24073154	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	6254470	24073154	131197406	34	5738											
PORCN	64840	broad.mit.edu	37	X	48368320	48368320	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:48368320G>A	uc010nie.1	+	1	270	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	PORCN_uc004djq.1_Missense_Mutation_p.A151T|PORCN_uc004djr.1_Missense_Mutation_p.A38T|PORCN_uc004djs.1_Missense_Mutation_p.A38T|PORCN_uc011mlx.1_5'UTR|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.A38T|PORCN_uc004djw.1_Missense_Mutation_p.A38T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	38	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.L37I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCTGCCTCGCCTGCCGCCT	0.597													A	48368320	G	A	48368320	3	1	87	1	0	0	0	0	1	0	0	0	12258	1087	38	1	114	1	PORCN	23	48368320	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	24295166	48368320	106902240	35	5739											
WNK3	65267	broad.mit.edu	37	X	54276526	54276526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:54276526G>A	uc004dtc.2	-	15	3053	c.2614C>T	c.(2614-2616)Cga>Tga	p.R872*	WNK3_uc004dtd.2_Nonsense_Mutation_p.R872*	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	872					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATACAGAATCGCCACCGACCA	0.423													A	54276526	G	A	54276526	4	1	87	1	0	0	0	0	0	1	0	0	17376	1095	38	1	2824	1	WNK3	23	54276526	Nonsense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	5908206	54276526	100994034	36	5740											
IL1RAPL2	26280	broad.mit.edu	37	X	105011568	105011568	+	Silent	SNP	C	C	T			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:105011568C>T	uc004elz.1	+	10	2731	c.1975C>T	c.(1975-1977)Ctg>Ttg	p.L659L		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	659					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAATAACACCCTGAAAGATAC	0.448													T	105011568	C	T	105011568	2	4	87	1	0	0	0	0	0	0	0	1	7662	680	24	3		3	IL1RAPL2	23	105011568	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	50735042	105011568	50258992	37	5741											
MASP2	10747	broad.mit.edu	37	1	11087589	11087589	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:11087589G>A	uc001aru.3	-	10	1446	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	472	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCATATAAAAGTGCACCTGCT	0.493													A	11087589	G	A	11087589	3	1	88	1	0	0	0	0	1	0	0	0	9323	1029	36	3	650	3	MASP2	1	11087589	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		11087589	238163032	1	5742											
RNF2	6045	broad.mit.edu	37	1	185069006	185069006	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:185069006G>A	uc001grc.1	+	5	1054	c.821G>A	c.(820-822)aGc>aAc	p.S274N	RNF2_uc001grd.1_Missense_Mutation_p.S202N	NM_007212	NP_009143	Q99496	RING2_HUMAN	Homo sapiens ring finger protein 2 (RNF2), mRNA.	274					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	p.R273*(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GAACTTCGAAGCAAAGGTGAA	0.393													A	185069006	G	A	185069006	3	1	88	1	0	0	0	0	1	0	0	0	13472	971	34	3	839	3	RNF2	1	185069006	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	173981417	185069006	64181615	2	5743											
SOX13	9580	broad.mit.edu	37	1	204085764	204085766	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:204085764_204085766delAGC	uc001ham.3	+	4	1143_1145	c.548_550delAGC	c.(547-552)aagcag>aag	p.Q187del	SOX13_uc001hal.3_In_Frame_Del_p.Q187del|SOX13_uc010pqp.2_In_Frame_Del_p.Q187del|SOX13_uc010pqq.2_In_Frame_Del_p.Q54del	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	187	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGTTTGAGAAGCAGCAGCAGCA	0.576													-	204085766	AGC	-	204085764	7	5	88	1	0	1	0	1	0	0	0	0	14944	72	3	0	562	0	SOX13	1	204085764	In_Frame_Del	DEL	AGC	TCGA-06-5411-01A-01D-1696-08	19016758	204085764	45164857	3	5744											
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:204135375_204135377delAGC	uc001haq.2	-	0	89_91	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													-	204135377	AGC	-	204135375	7	5	88	1	0	1	0	1	0	0	0	0	13224	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-06-5411-01A-01D-1696-08	49611	204135375	45115246	4	5745											
OR2C3	81472	broad.mit.edu	37	1	247695277	247695277	+	Silent	SNP	A	A	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:247695277A>G	uc021pmb.1	-	0	537	c.537T>C	c.(535-537)ttT>ttC	p.F179F	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.F179F	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			GCATCTCGCAAAAGAAGTGGT	0.557													G	247695277	A	G	247695277	2	3	88	1	0	0	0	0	0	0	0	1	10993	11	1	4		4	OR2C3	1	247695277	Silent	SNP	A	TCGA-06-5411-01A-01D-1696-08	43559902	247695277	1555344	5	5746											
PIGF	5281	broad.mit.edu	37	2	46808672	46808672	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:46808672A>G	uc002rvd.3	-	5	769	c.605T>C	c.(604-606)aTt>aCt	p.I202T	RHOQ_uc002rva.3_3'UTR|BC048424_uc002rvb.3_5'Flank|PIGF_uc002rvc.3_3'UTR	NM_002643	NP_002634	Q07326	PIGF_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class F (PIGF), transcript variant 1, mRNA.	202					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GAGTGGTGAAATAACAAGGCC	0.418													G	46808672	A	G	46808672	3	3	88	1	0	0	0	0	1	0	0	0	11887	101	4	4	58	4	PIGF	2	46808672	Missense_Mutation	SNP	A	TCGA-06-5411-01A-01D-1696-08		46808672	196390701	6	5747											
LBX2	85474	broad.mit.edu	37	2	74729804	74729804	+	Silent	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:74729804G>A	uc002slw.3	-	0	640	c.183C>T	c.(181-183)tgC>tgT	p.C61C	LOC151534_uc002slx.2_Non-coding_Transcript	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	Homo sapiens ladybird homeobox 2 (LBX2), mRNA.	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTTGGGGGCGGCAGGCCTGTG	0.602													A	74729804	G	A	74729804	2	1	88	1	0	0	0	0	0	0	0	1	8654	1195	42	3		3	LBX2	2	74729804	Silent	SNP	G	TCGA-06-5411-01A-01D-1696-08	27921132	74729804	168469569	7	5748											
FAM176A	84141	broad.mit.edu	37	2	75720689	75720689	+	Silent	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:75720689G>A	uc002sni.2	-	3	610	c.132C>T	c.(130-132)atC>atT	p.I44I	FAM176A_uc002snj.1_Silent_p.I31I|FAM176A_uc002snk.1_Silent_p.I44I	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	44	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						GCACCAGCCCGATGCACACGC	0.537													A	75720689	G	A	75720689	2	1	88	1	0	0	0	0	0	0	0	1	5499	1048	37	2		2	FAM176A	2	75720689	Silent	SNP	G	TCGA-06-5411-01A-01D-1696-08	990885	75720689	167478684	8	5749											
DNAH7	56171	broad.mit.edu	37	2	196689149	196689149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:196689149C>T	uc002utj.4	-	48	9222	c.9121G>A	c.(9121-9123)Gaa>Aaa	p.E3041K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3041	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						TCTAGTTCTTCGCCAACATTT	0.348													T	196689149	C	T	196689149	3	4	88	1	0	0	0	0	1	0	0	0	4606	893	31	2	3021	2	DNAH7	2	196689149	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	120968460	196689149	46510224	9	5750											
ABI2	10152	broad.mit.edu	37	2	204260428	204260428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:204260428C>T	uc002vaa.3	+	6	1010	c.775C>T	c.(775-777)Cga>Tga	p.R259*	ABI2_uc010zig.1_Non-coding_Transcript|ABI2_uc010zij.2_Nonsense_Mutation_p.R197*|ABI2_uc002uzz.3_Nonsense_Mutation_p.R253*|ABI2_uc010zih.2_Intron|ABI2_uc010zii.2_Nonsense_Mutation_p.R253*|ABI2_uc002vab.3_Nonsense_Mutation_p.R208*|ABI2_uc010zik.2_Nonsense_Mutation_p.R45*|ABI2_uc010zil.2_Nonsense_Mutation_p.R94*|ABI2_uc010zim.2_Nonsense_Mutation_p.R45*|ABI2_uc002vac.3_Nonsense_Mutation_p.R45*|ABI2_uc010zin.2_Intron	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	Homo sapiens abl-interactor 2 (ABI2), mRNA.	259	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GAGCAGCAGTCGAGAGAACAG	0.478													T	204260428	C	T	204260428	4	4	88	1	0	0	0	0	0	1	0	0	89	876	31	2	779	2	ABI2	2	204260428	Nonsense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	7571279	204260428	38938945	10	5751											
RAF1	5894	broad.mit.edu	37	3	12632402	12632402	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:12632402T>C	uc003bxf.4	-	11	1680	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R	RAF1_uc011aut.2_Missense_Mutation_p.Q207R|RAF1_uc011auu.2_Missense_Mutation_p.Q340R	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	422	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CTCGCACCACTGGGTCACAAT	0.542			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				C	12632402	T	C	12632402	3	2	88	1	0	0	0	0	1	0	0	0	13002	1580	55	4	705	4	RAF1	3	12632402	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		12632402	185390028	11	5752											
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:38591931C>G	uc021wvo.1	-	26	5984	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602													G	38591931	C	G	38591931	3	3	88	1	0	0	0	0	1	0	0	0	13922	826	29	5	122	5	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	25959529	38591931	159430499	12	5753											
SLC9A9	285195	broad.mit.edu	37	3	143212496	143212496	+	Silent	SNP	T	T	C			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:143212496T>C	uc003evn.3	-	11	1524	c.1315_splice	c.e11+1	p.G439_splice		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	439					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTCACATACCTGAAAACATCA	0.403													C	143212496	T	C	143212496	2	2	88	1	0	0	0	0	0	0	0	1	14721	1594	55	4		4	SLC9A9	3	143212496	Silent	SNP	T	TCGA-06-5411-01A-01D-1696-08	104620565	143212496	54809934	13	5754											
KIT	3815	broad.mit.edu	37	4	55597497	55597497	+	Silent	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:55597497C>T	uc010igr.3	+	14	2232	c.2145C>T	c.(2143-2145)agC>agT	p.S715S	KIT_uc010igs.3_Silent_p.S711S|KIT_uc010igt.2_Splice_Site_p.C163_splice	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	715	Protein kinase.		S -> N (in dbSNP:rs56094246).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S715del(14)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGCAGCGATAGTACTA	0.458		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				T	55597497	C	T	55597497	2	4	88	1	0	0	0	0	0	0	0	1	8329	767	27	1		1	KIT	4	55597497	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		55597497	135556779	14	5755											
ARL9	132946	broad.mit.edu	37	4	57389924	57389924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:57389924G>A	uc003hby.1	+	3	702	c.254G>A	c.(253-255)gGa>gAa	p.G85E		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA.	149							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					TCTGAAGTGGGAAATGACAGG	0.433													A	57389924	G	A	57389924	3	1	88	1	0	0	0	0	1	0	0	0	948	1174	41	3	264	3	ARL9	4	57389924	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	1792427	57389924	133764352	15	5756											
UGT2B10	7365	broad.mit.edu	37	4	69885591	69885591	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:69885591C>G	uc011cao.1	-	2	503	c.377G>C	c.(376-378)aGt>aCt	p.S126T	UGT2B10_uc011can.1_Intron			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	170					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAAGCTGTGACTGTACACAAA	0.408													G	69885591	C	G	69885591	3	3	88	1	0	0	0	0	1	0	0	0	16953	564	20	5	2712	5	UGT2B10	4	69885591	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	12495667	69885591	121268685	16	5757											
MUC7	4589	broad.mit.edu	37	4	71346617	71346617	+	Silent	SNP	A	A	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:71346617A>G	uc011cat.2	+	3	444	c.156A>G	c.(154-156)ctA>ctG	p.L52L	MUC7_uc011cau.2_Silent_p.L52L|MUC7_uc003hfj.3_Silent_p.L52L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	52						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTGGACTGCTAGCTCACCAGA	0.453													G	71346617	A	G	71346617	2	3	88	1	0	0	0	0	0	0	0	1	9981	407	15	4		4	MUC7	4	71346617	Silent	SNP	A	TCGA-06-5411-01A-01D-1696-08	1461026	71346617	119807659	17	5758											
CARD6	84674	broad.mit.edu	37	5	40853218	40853218	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:40853218T>A	uc003jmg.3	+	2	1859	c.1784T>A	c.(1783-1785)aTt>aAt	p.I595N		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	595					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAGGCTCAAATTTTTCAGAGG	0.483													A	40853218	T	A	40853218	3	1	88	1	0	0	0	0	1	0	0	0	2650	1493	52	5	1794	5	CARD6	5	40853218	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		40853218	140062042	18	5759											
RGNEF	64283	broad.mit.edu	37	5	73045681	73045681	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:73045681C>T	uc010izf.3	+	2	229	c.53C>T	c.(52-54)gCg>gTg	p.A18V	RGNEF_uc011csq.2_Missense_Mutation_p.A18V|RGNEF_uc003kcy.1_Missense_Mutation_p.A18V|RGNEF_uc021yam.1_Missense_Mutation_p.A18V	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	18					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		ATGATCTATGCGAAGTTTGAC	0.443													T	73045681	C	T	73045681	3	4	88	1	0	0	0	0	1	0	0	0	13283	768	27	1	59	1	RGNEF	5	73045681	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	32192463	73045681	107869579	19	5760											
GABRA6	2559	broad.mit.edu	37	5	161119124	161119124	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:161119124C>T	uc003lyu.2	+	7	1342	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	GABRA6_uc003lyv.2_Missense_Mutation_p.A106V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	335					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACACAGAAGGCCAAAAGGAAG	0.438										TCGA Ovarian(5;0.080)			T	161119124	C	T	161119124	3	4	88	1	0	0	0	0	1	0	0	0	6165	739	26	3	1034	3	GABRA6	5	161119124	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	88073443	161119124	19796136	20	5761											
TLX3	30012	broad.mit.edu	37	5	170736674	170736674	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:170736674C>T	uc003mbf.3	+	0	387	c.305C>T	c.(304-306)cCg>cTg	p.P102L	AX746723_uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.	102						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCGTGCCACCGCCTCTGCCA	0.701			T	BCL11B	T-ALL								T	170736674	C	T	170736674	3	4	88	1	0	0	0	0	1	0	0	0	15959	652	23	2	307	2	TLX3	5	170736674	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	9617550	170736674	10178586	21	5762											
DNAH11	8701	broad.mit.edu	37	7	21784532	21784532	+	Silent	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr7:21784532C>T	uc003svc.3	+	51	8413	c.8382C>T	c.(8380-8382)tgC>tgT	p.C2794C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2794					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCATTTATTGCCACTTTGCTG	0.448									Kartagener syndrome				T	21784532	C	T	21784532	2	4	88	1	0	0	0	0	0	0	0	1	4599	747	26	3		3	DNAH11	7	21784532	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		21784532	137354131	22	5763											
OR6V1	346517	broad.mit.edu	37	7	142749846	142749846	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr7:142749846G>T	uc011ksv.2	+	0	409	c.409G>T	c.(409-411)Gct>Tct	p.A137S		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GATGAGCCGGGCTATGTGTGT	0.597													T	142749846	G	T	142749846	3	4	88	1	0	0	0	0	1	0	0	0	11211	1203	42	5	411	5	OR6V1	7	142749846	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	120965314	142749846	16388817	23	5764											
TEX15	56154	broad.mit.edu	37	8	30695499	30695499	+	Silent	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr8:30695499C>T	uc003xil.3	-	2	7152	c.7152G>A	c.(7150-7152)acG>acA	p.T2384T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2384										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)		CCTTTTTTGGCGTTAAATGAT	0.388													T	30695499	C	T	30695499	2	4	88	1	0	0	0	0	0	0	0	1	15776	755	27	1		1	TEX15	8	30695499	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		30695499	115668523	24	5765											
GPR124	25960	broad.mit.edu	37	8	37697018	37697018	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr8:37697018T>C	uc003xkj.3	+	16	2774	c.2388_splice	c.e16-1	p.S796_splice	GPR124_uc010lvy.3_Splice_Site_p.S579_splice	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	796					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCCGGGCAGCTCCATCCGTGT	0.592													C	37697018	T	C	37697018	3	2	88	1	0	0	0	0	1	0	0	0	6638	1565	54	4	2430	4	GPR124	8	37697018	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08	7001519	37697018	108667004	25	5766											
TBC1D2	55357	broad.mit.edu	37	9	101014108	101014108	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:101014108G>A	uc011lvb.2	-	1	650	c.470C>T	c.(469-471)gCc>gTc	p.A157V	TBC1D2_uc004ayq.3_Missense_Mutation_p.A157V|TBC1D2_uc004ayr.3_Intron	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	157	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGCCAGGGCGGCATCAGGGGT	0.637													A	101014108	G	A	101014108	3	1	88	1	0	0	0	0	1	0	0	0	15605	1203	42	3	2331	3	TBC1D2	9	101014108	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		101014108	40199323	26	5767											
TTLL11	158135	broad.mit.edu	37	9	124751932	124751932	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:124751932C>T	uc011lyl.2	-	3	1269	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Missense_Mutation_p.A38T|TTLL11_uc004blt.1_Missense_Mutation_p.A361T|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	361	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGGGTCCCTGCCAGGCGGATG	0.517													T	124751932	C	T	124751932	3	4	88	1	0	0	0	0	1	0	0	0	16721	739	26	3	1423	3	TTLL11	9	124751932	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	23737824	124751932	16461499	27	5768											
TTLL11	158135	broad.mit.edu	37	9	124794081	124794081	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:124794081T>A	uc011lyl.2	-	2	1072	c.884A>T	c.(883-885)cAg>cTg	p.Q295L	TTLL11_uc004blr.3_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blt.1_Missense_Mutation_p.Q295L|TTLL11_uc004blu.1_Intron	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	295	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.Q295Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AAAGAGATTCTGCATGGTTCT	0.507													A	124794081	T	A	124794081	3	1	88	1	0	0	0	0	1	0	0	0	16721	1580	55	5	1624	5	TTLL11	9	124794081	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08	42149	124794081	16419350	28	5769											
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr10:89692904C>T	uc001kfb.3	+	4	1420	c.388C>T	c.(388-390)Cga>Tga	p.R130*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692904	C	T	89692904	4	4	88	1	0	0	0	0	0	1	0	0	12738	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		89692904	45841843	29	5770											
ANO9	338440	broad.mit.edu	37	11	420528	420528	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:420528C>T	uc001lpi.2	-	18	1806	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	ANO9_uc001lph.2_Missense_Mutation_p.R267H|ANO9_uc010qvv.1_Missense_Mutation_p.R430H	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	574						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGCGTCCAGGCGGATCTCCAC	0.682													T	420528	C	T	420528	3	4	88	1	0	0	0	0	1	0	0	0	704	768	27	1	647	1	ANO9	11	420528	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		420528	134585988	30	5771											
OR4D11	219986	broad.mit.edu	37	11	59271634	59271634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:59271634G>T	uc001noa.1	+	0	586	c.586G>T	c.(586-588)Gag>Tag	p.E196*		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L195H(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTTTGCTCTTGAGTTCTTGAT	0.493													T	59271634	G	T	59271634	4	4	88	1	0	0	0	0	0	1	0	0	11055	1291	45	5	588	5	OR4D11	11	59271634	Nonsense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	58851106	59271634	75734882	31	5772											
CTTN	2017	broad.mit.edu	37	11	70255986	70255986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:70255986G>A	uc001opv.4	+	4	417	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CTTN_uc001opu.3_Missense_Mutation_p.E71K|CTTN_uc001opw.4_Missense_Mutation_p.E71K	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	71						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	p.K70N(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GACCCTTAAGGAGAAGGAACT	0.468													A	70255986	G	A	70255986	3	1	88	1	0	0	0	0	1	0	0	0	4044	1175	41	3	221	3	CTTN	11	70255986	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	10984352	70255986	64750530	32	5773											
PRB3	5544	broad.mit.edu	37	12	11420518	11420518	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:11420518G>A	uc001qzs.3	-	2	703	c.665C>T	c.(664-666)cCg>cTg	p.P222L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	222	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding	p.R221S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.617													A	11420518	G	A	11420518	3	1	88	1	0	0	0	0	1	0	0	0	12444	1116	39	2	272	2	PRB3	12	11420518	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		11420518	122431377	33	5774			1	18		2	2	64	G		9.76799e-05
PRB3	5544	broad.mit.edu	37	12	11420581	11420581	+	Missense_Mutation	SNP	G	G	A	rs71057716		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:11420581G>A	uc001qzs.3	-	2	640	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	201	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding	p.R200C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632													A	11420581	G	A	11420581	3	1	88	1	0	0	0	0	1	0	0	0	12444	1116	39	2	335	2	PRB3	12	11420581	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	63	11420581	122431314	34	5775			1	18		2	2	64	G		9.76799e-05
MYF6	4618	broad.mit.edu	37	12	81101720	81101720	+	Silent	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:81101720C>T	uc001szf.2	+	0	313	c.222C>T	c.(220-222)ccC>ccT	p.P74P		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	74					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CACACTGCCCCGGCCAGTGTC	0.652													T	81101720	C	T	81101720	2	4	88	1	0	0	0	0	0	0	0	1	10028	639	23	2		2	MYF6	12	81101720	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08	69681139	81101720	52750175	35	5776											
UBC	7316	broad.mit.edu	37	12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:125397269G>A	uc001ugs.4	-	1	1507	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Missense_Mutation_p.A350V|UBC_uc001ugu.1_Missense_Mutation_p.A350V|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.A350V|UBC_uc001ugw.3_Missense_Mutation_p.A198V	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	350	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522													A	125397269	G	A	125397269	3	1	88	1	0	0	0	0	1	0	0	0	16839	1203	42	3	1012	3	UBC	12	125397269	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	44295549	125397269	8454626	36	5777											
CCNA1	8900	broad.mit.edu	37	13	37011790	37011790	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr13:37011790T>A	uc001uvr.4	+	2	672	c.322T>A	c.(322-324)Tct>Act	p.S108T	CCNA1_uc010teo.2_Missense_Mutation_p.S64T|CCNA1_uc010abq.3_Missense_Mutation_p.S64T|CCNA1_uc010abp.3_Missense_Mutation_p.S64T|CCNA1_uc001uvs.4_Missense_Mutation_p.S107T|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	108					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.Y107Y(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)		CAGGTGTTATTCTGGATCAGA	0.468													A	37011790	T	A	37011790	3	1	88	1	0	0	0	0	1	0	0	0	2909	1783	62	5	332	5	CCNA1	13	37011790	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		37011790	78158088	37	5778											
C15orf2	23742	broad.mit.edu	37	15	24921520	24921520	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr15:24921520T>C	uc001ywo.3	+	0	980	c.506T>C	c.(505-507)aTc>aCc	p.I169T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	169					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCGGTGCAGATCGAAGGGGAG	0.612													C	24921520	T	C	24921520	3	2	88	1	0	0	0	0	1	0	0	0	1784	1435	50	4	508	4	C15orf2	15	24921520	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		24921520	77609872	38	5779											
MYO15A	51168	broad.mit.edu	37	17	18024801	18024801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr17:18024801delG	uc021trm.1	+	0	2906	c.2687delG	c.(2686-2688)aggfs	p.R896fs	MYO15A_uc021trl.1_Frame_Shift_Del_p.R896fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	896	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACCGCCCAGGGCCGGGGCC	0.741													-	18024801	G	-	18024801	7	5	88	1	0	1	0	1	0	0	0	0	10063	1000	35	0	2689	0	MYO15A	17	18024801	Frame_Shift_Del	DEL	G	TCGA-06-5411-01A-01D-1696-08		18024801	63170409	39	5780											
DSG4	147409	broad.mit.edu	37	18	28992962	28992962	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr18:28992962C>T	uc002kwr.2	+	14	2719	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F	DSG4_uc002kwq.2_Missense_Mutation_p.L843F	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	843					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			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)			ATTTAGGACTCTTGCTGAGAT	0.438													T	28992962	C	T	28992962	3	4	88	1	0	0	0	0	1	0	0	0	4779	913	32	3	2710	3	DSG4	18	28992962	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		28992962	49084286	40	5781											
LMAN1	3998	broad.mit.edu	37	18	57014768	57014768	+	Silent	SNP	A	A	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr18:57014768A>G	uc002lhz.3	-	6	831	c.799T>C	c.(799-801)Ttg>Ctg	p.L267L		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	267	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGTTCAGTCAACTGGAAAGTC	0.313													G	57014768	A	G	57014768	2	3	88	1	0	0	0	0	0	0	0	1	8836	40	2	4		4	LMAN1	18	57014768	Silent	SNP	A	TCGA-06-5411-01A-01D-1696-08	28021806	57014768	21062480	41	5782											
CEACAM20	125931	broad.mit.edu	37	19	45016954	45016954	+	Silent	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr19:45016954C>T	uc010ejn.1	-	8	1501	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K	CEACAM20_uc010ejo.1_Silent_p.K495K|CEACAM20_uc010ejp.1_Silent_p.K402K|CEACAM20_uc010ejq.1_Silent_p.K402K	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	495						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGTGCTCCTCCTTCGGGATGG	0.587											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45016954	C	T	45016954	2	4	88	1	0	0	0	0	0	0	0	1	3191	690	24	3		3	CEACAM20	19	45016954	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		45016954	14112029	42	5783											
A1BG	1	broad.mit.edu	37	19	58858802	58858802	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr19:58858802C>T	uc002qsd.4	-	6	1459	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	A1BG-AS1_uc002qse.3_5'Flank	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	466	Ig-like V-type 5.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCTGTAGTTGCCGGCGTGCTG	0.692													T	58858802	C	T	58858802	3	4	88	1	0	0	0	0	1	0	0	0	1	739	26	3	98	3	A1BG	19	58858802	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	13841848	58858802	270181	43	5784											
KIF16B	55614	broad.mit.edu	37	20	16337022	16337022	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr20:16337022C>T	uc002wpg.2	-	22	3733	c.3574G>A	c.(3574-3576)Gtc>Atc	p.V1192I	KIF16B_uc002wpe.1_Missense_Mutation_p.V574I|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.2_Missense_Mutation_p.V1141I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1192	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCAGAGGACGTAGCGTGGG	0.498													T	16337022	C	T	16337022	3	4	88	1	0	0	0	0	1	0	0	0	8278	536	19	1	395	1	KIF16B	20	16337022	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		16337022	46688498	44	5785											
PCK1	5105	broad.mit.edu	37	20	56137841	56137841	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr20:56137841G>A	uc002xyn.4	+	3	659	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	166					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			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)			TTCACCCTACGTGGTGGCCAG	0.617													A	56137841	G	A	56137841	3	1	88	1	0	0	0	0	1	0	0	0	11581	1145	40	1	506	1	PCK1	20	56137841	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	39800819	56137841	6887679	45	5786											
NRIP1	8204	broad.mit.edu	37	21	16340303	16340303	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:16340303G>A	uc021whl.1	-	0	211	c.211C>T	c.(211-213)Cat>Tat	p.H71Y	NRIP1_uc002yjx.2_Missense_Mutation_p.H71Y	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	71					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGATATGTATGTGTATTGAGA	0.458													A	16340303	G	A	16340303	3	1	88	1	0	0	0	0	1	0	0	0	10652	1377	48	3	3269	3	NRIP1	21	16340303	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		16340303	31789592	46	5787											
TIAM1	7074	broad.mit.edu	37	21	32639088	32639088	+	Silent	SNP	G	G	C			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:32639088G>C	uc002yow.1	-	4	673	c.201C>G	c.(199-201)tcC>tcG	p.S67S	TIAM1_uc011adk.1_Silent_p.S67S|TIAM1_uc011adl.1_Silent_p.S67S|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	67					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTCAGCCAGGGACTGGGGGA	0.617													C	32639088	G	C	32639088	2	2	88	1	0	0	0	0	0	0	0	1	15887	1219	43	5		5	TIAM1	21	32639088	Silent	SNP	G	TCGA-06-5411-01A-01D-1696-08	16298785	32639088	15490807	47	5788											
CBR1	873	broad.mit.edu	37	21	37445093	37445093	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:37445093G>T	uc002yvb.1	+	2	876	c.747G>T	c.(745-747)gaG>gaT	p.E249D	LOC100133286_uc011aea.1_Intron|SETD4_uc002yva.3_Intron|CBR1_uc010gmy.1_3'UTR	NM_001757	NP_001748	P16152	CBR1_HUMAN	Homo sapiens carbonyl reductase 1 (CBR1), mRNA.	249					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding			endometrium(2)|kidney(3)	5					Acetohexamide(DB00414)|Lubiprostone(DB01046)	AAGGTGCAGAGACCCCTGTGT	0.572													T	37445093	G	T	37445093	3	4	88	1	0	0	0	0	1	0	0	0	2708	933	33	5	757	5	CBR1	21	37445093	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	4806005	37445093	10684802	48	5789											
CASZ1	54897	broad.mit.edu	37	1	10713867	10713867	+	Silent	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:10713867C>T	uc001aro.3	-	10	2567	c.2247G>A	c.(2245-2247)gcG>gcA	p.A749A	CASZ1_uc001arp.1_Silent_p.A749A|CASZ1_uc009vmx.2_Silent_p.A773A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGCCAGGGACGCAGAGGACT	0.667													T	10713867	C	T	10713867	2	4	89	1	0	0	0	0	0	0	0	1	2685	523	19	1		1	CASZ1	1	10713867	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08		10713867	238536754	1	5790											
GLIS1	148979	broad.mit.edu	37	1	54059816	54059816	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:54059816G>A	uc001cvr.1	-	2	1327	c.760C>T	c.(760-762)Cga>Tga	p.R254*		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	254					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGTGCACTCGCATGTGGATG	0.652													A	54059816	G	A	54059816	4	1	89	1	0	0	0	0	0	1	0	0	6445	1095	38	1	1134	1	GLIS1	1	54059816	Nonsense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	43345949	54059816	195190805	2	5791											
INADL	10207	broad.mit.edu	37	1	62228837	62228837	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:62228837delC	uc001dab.3	+	2	289	c.175delC	c.(175-177)caafs	p.Q59fs	INADL_uc009waf.1_Frame_Shift_Del_p.Q59fs|INADL_uc001daa.2_Frame_Shift_Del_p.Q59fs	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	59	L27.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTCCATCAAGCAACTGAAGGG	0.363													-	62228837	C	-	62228837	7	5	89	1	0	1	0	1	0	0	0	0	7731	711	25	0	181	0	INADL	1	62228837	Frame_Shift_Del	DEL	C	TCGA-06-5412-01A-01D-1696-08	8169021	62228837	187021784	3	5792											
ITGA10	8515	broad.mit.edu	37	1	145532131	145532131	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:145532131C>T	uc001eoa.3	+	7	851	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	ITGA10_uc010oyv.2_Nonsense_Mutation_p.Q128*|ITGA10_uc009wiw.3_Nonsense_Mutation_p.Q116*|ITGA10_uc010oyw.2_Nonsense_Mutation_p.Q204*	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	259	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGGTTCAGTCAGTCCCATGG	0.542													T	145532131	C	T	145532131	4	4	89	1	0	0	0	0	0	1	0	0	7873	827	29	3	805	3	ITGA10	1	145532131	Nonsense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	83303294	145532131	103718490	4	5793											
CRTC2	200186	broad.mit.edu	37	1	153923904	153923904	+	Silent	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:153923904G>A	uc021pab.1	-	10	1395	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	412					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)			AAGAGGGGGCGCCCAAAACAG	0.672													A	153923904	G	A	153923904	2	1	89	1	0	0	0	0	0	0	0	1	3900	1074	38	1		1	CRTC2	1	153923904	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	8391773	153923904	95326717	5	5794											
ZNF496	84838	broad.mit.edu	37	1	247464120	247464120	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:247464120C>T	uc009xgv.3	-	7	1610	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	ZNF496_uc001ico.3_Missense_Mutation_p.D489N	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	489					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGAGTCTGTCCGGCTGCAGG	0.642													T	247464120	C	T	247464120	3	4	89	1	0	0	0	0	1	0	0	0	17942	855	30	3	302	3	ZNF496	1	247464120	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	93540216	247464120	1786501	6	5795											
OR2G6	391211	broad.mit.edu	37	1	248685052	248685052	+	Silent	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:248685052C>T	uc001ien.1	+	0	105	c.105C>T	c.(103-105)taC>taT	p.Y35Y		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCTACGTCTTGAGCC	0.463													T	248685052	C	T	248685052	2	4	89	1	0	0	0	0	0	0	0	1	11000	547	19	1		1	OR2G6	1	248685052	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	1220932	248685052	565569	7	5796											
DPP10	57628	broad.mit.edu	37	2	116593818	116593818	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:116593818A>T	uc002tle.3	+	21	2069	c.2048A>T	c.(2047-2049)gAc>gTc	p.D683V	DPP10_uc002tla.2_Missense_Mutation_p.D679V|DPP10_uc002tlb.2_Missense_Mutation_p.D629V|DPP10_uc002tlc.2_Missense_Mutation_p.D675V|DPP10_uc002tlf.2_Missense_Mutation_p.D672V	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	679					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTATCACAGACTTGAAATTG	0.368													T	116593818	A	T	116593818	3	4	89	1	0	0	0	0	1	0	0	0	4727	275	10	5	2293	5	DPP10	2	116593818	Missense_Mutation	SNP	A	TCGA-06-5412-01A-01D-1696-08		116593818	126605555	8	5797											
WDR33	55339	broad.mit.edu	37	2	128484320	128484320	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:128484320C>T	uc002tpg.2	-	7	955	c.756G>A	c.(754-756)tgG>tgA	p.W252*		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	252					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TGGTTGGATGCCAGTCTACAC	0.408													T	128484320	C	T	128484320	4	4	89	1	0	0	0	0	0	1	0	0	17284	740	26	3	3314	3	WDR33	2	128484320	Nonsense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	11890502	128484320	114715053	9	5798											
HOXD10	3236	broad.mit.edu	37	2	176981726	176981726	+	Silent	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:176981726G>A	uc002ukj.3	+	0	235	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	55						nucleus	sequence-specific DNA binding	p.P55P(4)|p.P55T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGCTCCCGTCTCTGGCCA	0.488													A	176981726	G	A	176981726	2	1	89	1	0	0	0	0	0	0	0	1	7319	1132	40	1		1	HOXD10	2	176981726	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	48497406	176981726	66217647	10	5799											
PLEKHM3	389072	broad.mit.edu	37	2	208841462	208841462	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:208841462G>A	uc002vcl.2	-	2	1949	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	PLEKHM3_uc002vcm.2_Missense_Mutation_p.R487C	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	487					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACAGATTGGCGTTTGTTCTTC	0.478													A	208841462	G	A	208841462	3	1	89	1	0	0	0	0	1	0	0	0	12082	1145	40	1	850	1	PLEKHM3	2	208841462	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	31859736	208841462	34357911	11	5800											
CCDC108	255101	broad.mit.edu	37	2	219874081	219874081	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:219874081G>C	uc002vjl.1	-	27	4638	c.4554C>G	c.(4552-4554)gaC>gaG	p.D1518E		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1518						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCATACCAGGTCTGCACTGT	0.587													C	219874081	G	C	219874081	3	2	89	1	0	0	0	0	1	0	0	0	2743	1252	44	5	1255	5	CCDC108	2	219874081	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	11032619	219874081	23325292	12	5801											
RBM44	375316	broad.mit.edu	37	2	238738022	238738022	+	Silent	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:238738022G>A	uc002vxi.4	+	12	2898	c.2766G>A	c.(2764-2766)tcG>tcA	p.S922S		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	921							nucleotide binding|RNA binding			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)		GAATTAGTTCGAATAATTTAG	0.388													A	238738022	G	A	238738022	2	1	89	1	0	0	0	0	0	0	0	1	13138	1045	37	2		2	RBM44	2	238738022	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	18863941	238738022	4461351	13	5802											
CAND2	23066	broad.mit.edu	37	3	12858462	12858462	+	Silent	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:12858462C>T	uc003bxk.2	+	9	2080	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	CAND2_uc003bxj.2_Silent_p.D584D	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	677					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.D584D(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCCTGGACGCCCTGGCCC	0.662													T	12858462	C	T	12858462	2	4	89	1	0	0	0	0	0	0	0	1	2616	535	19	1		1	CAND2	3	12858462	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08		12858462	185163968	14	5803											
ZIC4	84107	broad.mit.edu	37	3	147113783	147113783	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:147113783C>G	uc011bno.2	-	2	880	c.694G>C	c.(694-696)Gga>Cga	p.G232R	ZIC4_uc003ewc.2_Missense_Mutation_p.G112R|ZIC4_uc021xff.1_Missense_Mutation_p.G220R|ZIC4_uc003ewd.2_Missense_Mutation_p.G182R|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	182						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGGGCTTTCCCTGGCGCGGA	0.597													G	147113783	C	G	147113783	3	3	89	1	0	0	0	0	1	0	0	0	17678	632	22	5	472	5	ZIC4	3	147113783	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	134255321	147113783	50908647	15	5804											
MECOM	2122	broad.mit.edu	37	3	168834185	168834185	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:168834185G>A	uc011bpj.1	-	7	1878	c.1475C>T	c.(1474-1476)cCt>cTt	p.P492L	MECOM_uc010hwk.1_Missense_Mutation_p.P327L|MECOM_uc003ffj.3_Missense_Mutation_p.P369L|MECOM_uc003ffi.3_Missense_Mutation_p.P304L|MECOM_uc011bpi.1_Missense_Mutation_p.P305L|MECOM_uc003ffn.3_Missense_Mutation_p.P304L|MECOM_uc003ffk.2_Missense_Mutation_p.P304L|MECOM_uc003ffl.2_Missense_Mutation_p.P464L|MECOM_uc011bpk.1_Missense_Mutation_p.P304L|MECOM_uc010hwn.2_Missense_Mutation_p.P492L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAACAGACCAGGGAAGCTAAA	0.473													A	168834185	G	A	168834185	3	1	89	1	0	0	0	0	1	0	0	0	9422	1000	35	3	2284	3	MECOM	3	168834185	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	21720402	168834185	29188245	16	5805											
NAALADL2	254827	broad.mit.edu	37	3	174951839	174951839	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:174951839G>A	uc003fit.3	+	2	751	c.664G>A	c.(664-666)Gat>Aat	p.D222N	NAALADL2_uc003fiu.1_Missense_Mutation_p.D215N|NAALADL2_uc010hwy.1_Missense_Mutation_p.D44N	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	222					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGTGCTGCTTGATCTGCCAGG	0.443													A	174951839	G	A	174951839	3	1	89	1	0	0	0	0	1	0	0	0	10130	1290	45	3	674	3	NAALADL2	3	174951839	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	6117654	174951839	23070591	17	5806											
GNRHR	2798	broad.mit.edu	37	4	68606377	68606377	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr4:68606377C>T	uc003hdn.3	-	2	2559	c.808G>A	c.(808-810)Gtt>Att	p.V270I	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Missense_Mutation_p.G227D|BC045560_uc003hdo.1_5'Flank	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	270					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.T269T(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GCAAATGCAACCGTCATTTTT	0.408													T	68606377	C	T	68606377	3	4	89	1	0	0	0	0	1	0	0	0	6549	507	18	3	182	3	GNRHR	4	68606377	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08		68606377	122547899	18	5807											
PITX2	5308	broad.mit.edu	37	4	111539460	111539460	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr4:111539460T>C	uc003iaf.3	-	6	2598	c.775A>G	c.(775-777)Acg>Gcg	p.T259A	PITX2_uc003iac.3_Missense_Mutation_p.T266A|PITX2_uc003iad.3_Missense_Mutation_p.T259A|PITX2_uc021xqr.1_Missense_Mutation_p.T259A|PITX2_uc003iae.3_Missense_Mutation_p.T213A|PITX2_uc021xqs.1_Missense_Mutation_p.T213A	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	259					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CAGGCAGGCGTCGGCACCGCG	0.592													C	111539460	T	C	111539460	3	2	89	1	0	0	0	0	1	0	0	0	11955	1667	58	4	182	4	PITX2	4	111539460	Missense_Mutation	SNP	T	TCGA-06-5412-01A-01D-1696-08	42933083	111539460	79614816	19	5808											
PCDHGC5	56104	broad.mit.edu	37	5	140730012	140730012	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:140730012G>A	uc003ljo.2	+	0	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.R62Q	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	62	Cadherin 1.				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)			TTGCCAACTCGAAAACTGCGG	0.522											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140730012	G	A	140730012	3	1	89	1	0	0	0	0	1	0	0	0	11571	1058	37	2		2	PCDHGC5	5	140730012	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		140730012	40185248	20	5809											
MFAP3	4238	broad.mit.edu	37	5	153432941	153432941	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:153432941G>A	uc010jib.2	+	2	976	c.757G>A	c.(757-759)Gag>Aag	p.E253K	MFAP3_uc011ddb.1_Missense_Mutation_p.E107K|MFAP3_uc003lvf.2_Missense_Mutation_p.E253K|MFAP3_uc021ygf.1_Missense_Mutation_p.E107K	NM_005927	NP_001128509	P55082	MFAP3_HUMAN	Homo sapiens microfibrillar-associated protein 3 (MFAP3), transcript variant 1, mRNA.	253						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGCCTTTGTTGAGGAGATGTT	0.453													A	153432941	G	A	153432941	3	1	89	1	0	0	0	0	1	0	0	0	9515	1291	45	3	763	3	MFAP3	5	153432941	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	12702929	153432941	27482319	21	5810											
EBF1	1879	broad.mit.edu	37	5	158140123	158140123	+	Silent	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:158140123G>A	uc010jip.3	-	12	1526	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	EBF1_uc011ddw.2_Silent_p.A276A|EBF1_uc011ddx.2_Silent_p.A409A|EBF1_uc003lxl.4_Silent_p.A377A	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	408					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGGGCCTCGGCAATGTCGG	0.527			T	HMGA2	lipoma								A	158140123	G	A	158140123	2	1	89	1	0	0	0	0	0	0	0	1	4880	1103	39	2		2	EBF1	5	158140123	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	4707182	158140123	22775137	22	5811											
BTNL3	10917	broad.mit.edu	37	5	180432547	180432547	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:180432547G>A	uc003mmr.3	+	7	1260	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	BTNL3_uc010jlp.3_Missense_Mutation_p.R144Q	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	359	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGAGTGTGTCGGGATGACGTA	0.478													A	180432547	G	A	180432547	3	1	89	1	0	0	0	0	1	0	0	0	1566	1116	39	2	1106	2	BTNL3	5	180432547	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	22292424	180432547	482713	23	5812											
ROS1	6098	broad.mit.edu	37	6	117679033	117679033	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr6:117679033G>T	uc003pxp.1	-	23	3987	c.3788C>A	c.(3787-3789)cCc>cAc	p.P1263H	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1263					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P1263F(2)|p.P1263P(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACCTCTCTGGGATATTTCAC	0.318			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								T	117679033	G	T	117679033	3	4	89	1	0	0	0	0	1	0	0	0	13531	1232	43	5	3335	5	ROS1	6	117679033	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		117679033	53436034	24	5813											
CRHR2	1395	broad.mit.edu	37	7	30693212	30693212	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:30693212C>T	uc003tbn.3	-	11	1345	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	CRHR2_uc010kvw.2_3'UTR|CRHR2_uc010kvx.2_Missense_Mutation_p.R366H|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.R203H|CRHR2_uc003tbo.3_Missense_Mutation_p.R353H|CRHR2_uc003tbp.3_Missense_Mutation_p.R394H	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	367					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.R367H(2)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGGCTGAGCGCACCTGTGG	0.642													T	30693212	C	T	30693212	3	4	89	1	0	0	0	0	1	0	0	0	3872	768	27	1	139	1	CRHR2	7	30693212	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08		30693212	128445451	25	5814											
DDX56	54606	broad.mit.edu	37	7	44611162	44611162	+	Silent	SNP	C	C	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:44611162C>A	uc003tlg.3	-	5	1462	c.819G>T	c.(817-819)cgG>cgT	p.R273R	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Silent_p.R273R|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	273	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACAGGCGTAGCCGGTAACTCC	0.522													A	44611162	C	A	44611162	2	1	89	1	0	0	0	0	0	0	0	1	4374	726	26	5		5	DDX56	7	44611162	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	13917950	44611162	114527501	26	5815											
GTF2IRD2	84163	broad.mit.edu	37	7	74212399	74212399	+	Silent	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:74212399C>T	uc003ubd.1	-	15	1636	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	GTF2IRD2_uc010lbt.1_Silent_p.E31E	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						cgtgaagcttctcgtcacgca	0.443													T	74212399	C	T	74212399	2	4	89	1	0	0	0	0	0	0	0	1	6869	912	32	3		3	GTF2IRD2	7	74212399	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	29601237	74212399	84926264	27	5816											
CCL24	6369	broad.mit.edu	37	7	75442664	75442664	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:75442664G>C	uc011kga.2	-	1	210	c.151C>G	c.(151-153)Cag>Gag	p.Q51E		NM_002991	NP_002982	O00175	CCL24_HUMAN	Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.	51					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						CTGGACAGCTGGTAGCTGACC	0.562													C	75442664	G	C	75442664	3	2	89	1	0	0	0	0	1	0	0	0	2896	1357	47	5	214	5	CCL24	7	75442664	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	1230265	75442664	83695999	28	5817											
CDHR3	222256	broad.mit.edu	37	7	105660961	105660961	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:105660961C>T	uc003vdl.4	+	12	1904	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Missense_Mutation_p.P586L|CDHR3_uc011klt.2_Missense_Mutation_p.P511L|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	599	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GATTCCAGCCCCAGATCTTTC	0.488													T	105660961	C	T	105660961	3	4	89	1	0	0	0	0	1	0	0	0	3120	623	22	3	1846	3	CDHR3	7	105660961	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	30218297	105660961	53477702	29	5818											
SND1	27044	broad.mit.edu	37	7	127334947	127334948	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:127334947_127334948insA	uc003vmi.3	+	2	520_521	c.294_295insA	c.(292-297)acgatafs	p.T98fs		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	98	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TCTGTTTCACGATAGAAAACAA	0.465													A	127334948	-	A	127334947	7	5	89	1	0	1	1	0	0	0	0	0	14844	1045	37	0	304	0	SND1	7	127334947	Frame_Shift_Ins	INS	-	TCGA-06-5412-01A-01D-1696-08	21673986	127334947	31803716	30	5819											
KEL	3792	broad.mit.edu	37	7	142643377	142643377	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:142643377C>T	uc003wcb.3	-	10	1441	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	411					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)					GTCTCCTCCACGCACTTCATC	0.567													T	142643377	C	T	142643377	3	4	89	1	0	0	0	0	1	0	0	0	8142	536	19	1	1003	1	KEL	7	142643377	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	15308430	142643377	16495286	31	5820											
SOX7	83595	broad.mit.edu	37	8	10583649	10583649	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:10583649G>A	uc011kwz.2	-	5	955	c.922C>T	c.(922-924)Ccc>Tcc	p.P308S	SOX7_uc003wtf.3_Missense_Mutation_p.P256S	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	256	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GAGCCCAGGGGGTGGCTACAG	0.692													A	10583649	G	A	10583649	3	1	89	1	0	0	0	0	1	0	0	0	14956	1232	43	3	404	3	SOX7	8	10583649	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		10583649	135780373	32	5821											
HGSNAT	138050	broad.mit.edu	37	8	43048945	43048945	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:43048945G>C	uc003xpx.4	+	13	1471	c.1423G>C	c.(1423-1425)Ggc>Cgc	p.G475R		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	503					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGGCATCCTGGGCACCATCAA	0.428													C	43048945	G	C	43048945	3	2	89	1	0	0	0	0	1	0	0	0	7088	1232	43	5	1477	5	HGSNAT	8	43048945	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	32465296	43048945	103315077	33	5822											
ENPP2	5168	broad.mit.edu	37	8	120628516	120628516	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:120628516C>T	uc003yos.2	-	7	852	c.766G>A	c.(766-768)Gga>Aga	p.G256R	ENPP2_uc010mdd.2_Missense_Mutation_p.G256R|ENPP2_uc003yot.2_Missense_Mutation_p.G256R	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	256					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGTTGACCTCCCCACCATCTA	0.378													T	120628516	C	T	120628516	3	4	89	1	0	0	0	0	1	0	0	0	5130	632	22	3	2136	3	ENPP2	8	120628516	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	77579571	120628516	25735506	34	5823											
HAS2	3037	broad.mit.edu	37	8	122626452	122626452	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:122626452T>C	uc003yph.2	-	3	2094	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	519						integral to plasma membrane	hyaluronan synthase activity	p.L518F(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATAGCATGCATAGAGCAACGT	0.418													C	122626452	T	C	122626452	3	2	89	1	0	0	0	0	1	0	0	0	6962	1406	49	4	106	4	HAS2	8	122626452	Missense_Mutation	SNP	T	TCGA-06-5412-01A-01D-1696-08	1997936	122626452	23737570	35	5824											
FAM49B	51571	broad.mit.edu	37	8	130866513	130866513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:130866513G>A	uc003yss.3	-	10	1065	c.516_splice	c.e10+1	p.P172_splice	FAM49B_uc003yst.3_Splice_Site_p.P172_splice|FAM49B_uc003ysu.3_Splice_Site_p.P172_splice|FAM49B_uc003ysw.3_Splice_Site_p.P172_splice|FAM49B_uc003ysx.3_Splice_Site_p.P172_splice|FAM49B_uc003ysy.1_Splice_Site_p.P172_splice	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	Homo sapiens family with sequence similarity 49, member B (FAM49B), mRNA.	172										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TTAACTTACCGGTACATTGTT	0.348													A	130866513	G	A	130866513	3	1	89	1	0	0	0	0	1	0	0	0	5576	1130	39	2	483	2	FAM49B	8	130866513	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	8240061	130866513	15497509	36	5825											
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr9:124062285T>G	uc004blf.1	+	1	205	c.144_splice	c.e1+2	p.R48_splice	GSN_uc004bld.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	48					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697													G	124062285	T	G	124062285	5	3	89	1	0	0	0	0	0	0	1	0	6825	1710	59	5	148	5	GSN	9	124062285	Splice_Site	SNP	T	TCGA-06-5412-01A-01D-1696-08		124062285	17151146	37	5826											
ABL1	25	broad.mit.edu	37	9	133760582	133760582	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr9:133760582G>A	uc004bzw.3	+	10	2908	c.2905G>A	c.(2905-2907)Gcc>Acc	p.A969T	ABL1_uc004bzv.3_Missense_Mutation_p.A988T	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	969	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCCACAGTCCGCCAAGCCGTC	0.667			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								A	133760582	G	A	133760582	3	1	89	1	0	0	0	0	1	0	0	0	92	1087	38	1	3087	1	ABL1	9	133760582	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	9698297	133760582	7452849	38	5827											
RXRA	6256	broad.mit.edu	37	9	137300840	137300840	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr9:137300840C>T	uc004cfb.2	+	3	647	c.485C>T	c.(484-486)aCg>aTg	p.T162M	RXRA_uc004cfc.1_Missense_Mutation_p.T65M	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	162					cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TTCAAGCGGACGGTGCGCAAG	0.647													T	137300840	C	T	137300840	3	4	89	1	0	0	0	0	1	0	0	0	13763	536	19	1	499	1	RXRA	9	137300840	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	3540258	137300840	3912591	39	5828											
PTEN	5728	broad.mit.edu	37	10	89720831	89720831	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr10:89720831delG	uc001kfb.3	+	7	2014	c.982delG	c.(982-984)gcafs	p.A328fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	328	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.A328fs*1(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTGACAAAGCAAATAAAGA	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720831	G	-	89720831	7	5	89	1	0	1	0	1	0	0	0	0	12738	971	34	0	1012	0	PTEN	10	89720831	Frame_Shift_Del	DEL	G	TCGA-06-5412-01A-01D-1696-08		89720831	45813916	40	5829											
LRRC32	2615	broad.mit.edu	37	11	76371805	76371805	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr11:76371805G>A	uc001oxq.4	-	2	1075	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	LRRC32_uc001oxr.4_Missense_Mutation_p.R278W|LRRC32_uc010rsf.2_Missense_Mutation_p.R278W	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	278						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GTGGGGAGCCGGATGAGGTTG	0.652													A	76371805	G	A	76371805	3	1	89	1	0	0	0	0	1	0	0	0	8987	1115	39	2	1160	2	LRRC32	11	76371805	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		76371805	58634711	41	5830											
GRAMD1B	57476	broad.mit.edu	37	11	123485469	123485469	+	Silent	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr11:123485469G>A	uc001pyw.2	+	16	2165	c.1836G>A	c.(1834-1836)cgG>cgA	p.R612R	GRAMD1B_uc001pyx.2_Silent_p.R605R|GRAMD1B_uc010rzw.2_Silent_p.R565R|GRAMD1B_uc010rzx.1_Silent_p.R565R|GRAMD1B_uc001pyy.2_Silent_p.R296R	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	605						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CACAGACGCGGCATATCCCGG	0.537													A	123485469	G	A	123485469	2	1	89	1	0	0	0	0	0	0	0	1	6748	1190	42	3		3	GRAMD1B	11	123485469	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	47113664	123485469	11521047	42	5831											
DDX11	1663	broad.mit.edu	37	12	31236988	31236988	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr12:31236988G>T	uc001rjt.1	+	2	637	c.386G>T	c.(385-387)cGa>cTa	p.R129L	DDX11_uc010sjw.1_Missense_Mutation_p.R129L|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R129L|DDX11_uc001rjs.1_Missense_Mutation_p.R129L|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R129L|DDX11_uc001rjw.1_Missense_Mutation_p.R103L	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	129	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGGTGGACCGACTAAAGGTG	0.587										Multiple Myeloma(12;0.14)			T	31236988	G	T	31236988	3	4	89	1	0	0	0	0	1	0	0	0	4343	1058	37	5	392	5	DDX11	12	31236988	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		31236988	102614907	43	5832											
PTPN11	5781	broad.mit.edu	37	12	112926909	112926909	+	Missense_Mutation	SNP	A	A	T	rs121918470		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr12:112926909A>T	uc001ttx.3	+	12	1909	c.1529A>T	c.(1528-1530)cAg>cTg	p.Q510L		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	514	Tyrosine-protein phosphatase.		Q -> P (in LEOPARD1).|Q -> R (in NS1).		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.Q510K(2)|p.Q510H(1)|p.Q510L(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						ACAGAAGCACAGTACCGATTT	0.498			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				T	112926909	A	T	112926909	3	4	89	1	0	0	0	0	1	0	0	0	12780	188	7	5	1579	5	PTPN11	12	112926909	Missense_Mutation	SNP	A	TCGA-06-5412-01A-01D-1696-08	81689921	112926909	20924986	44	5833											
DIAPH3	81624	broad.mit.edu	37	13	60686198	60686198	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr13:60686198G>T	uc001vht.3	-	2	555	c.336C>A	c.(334-336)aaC>aaA	p.N112K	DIAPH3_uc001vhw.1_Missense_Mutation_p.N101K|DIAPH3_uc010aed.1_Missense_Mutation_p.N101K|DIAPH3_uc010aee.1_Intron	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	112					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCTTTGGAAAGTTCTCCATCA	0.403													T	60686198	G	T	60686198	3	4	89	1	0	0	0	0	1	0	0	0	4520	1020	36	5	3369	5	DIAPH3	13	60686198	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		60686198	54483680	45	5834											
MAP3K9	4293	broad.mit.edu	37	14	71205013	71205013	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:71205013G>A	uc001xmm.3	-	7	1793	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	MAP3K9_uc010ttk.2_Missense_Mutation_p.T335M|MAP3K9_uc001xmk.3_Missense_Mutation_p.T340M|MAP3K9_uc001xml.3_Missense_Mutation_p.T598M	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	598					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGCCCCCACGTCCGTCCCTT	0.557													A	71205013	G	A	71205013	3	1	89	1	0	0	0	0	1	0	0	0	9257	1145	40	1	1587	1	MAP3K9	14	71205013	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		71205013	36144527	46	5835											
AHSA1	10598	broad.mit.edu	37	14	77930956	77930956	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:77930956T>A	uc001xtw.3	+	4	648	c.488T>A	c.(487-489)aTg>aAg	p.M163K	AHSA1_uc010tvk.1_Missense_Mutation_p.M163K	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) (AHSA1), mRNA.	163					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACCCAGGGCATGATCTTACCT	0.468													A	77930956	T	A	77930956	3	1	89	1	0	0	0	0	1	0	0	0	418	1464	51	5	506	5	AHSA1	14	77930956	Missense_Mutation	SNP	T	TCGA-06-5412-01A-01D-1696-08	6725943	77930956	29418584	47	5836			1	19		2	2	42	N	T_G	9.270573e-05
AHSA1	10598	broad.mit.edu	37	14	77930997	77930997	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:77930997G>A	uc001xtw.3	+	4	689	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	AHSA1_uc010tvk.1_Missense_Mutation_p.G177R	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) (AHSA1), mRNA.	177					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGACCCAGTGGGGCAGCCAGC	0.473													A	77930997	G	A	77930997	3	1	89	1	0	0	0	0	1	0	0	0	418	1232	43	3	547	3	AHSA1	14	77930997	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	41	77930997	29418543	48	5837			1	19		2	2	42	N	T_G	9.270573e-05
RPS6KA5	9252	broad.mit.edu	37	14	91372576	91372576	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:91372576G>A	uc001xys.2	-	7	1089	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	RPS6KA5_uc010twi.1_Missense_Mutation_p.R213C|RPS6KA5_uc001xyt.3_Missense_Mutation_p.R292C|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	292	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATCAAAAGACGCTGAATTAGG	0.383													A	91372576	G	A	91372576	3	1	89	1	0	0	0	0	1	0	0	0	13654	1087	38	1	1580	1	RPS6KA5	14	91372576	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	13441579	91372576	15976964	49	5838											
SENP8	123228	broad.mit.edu	37	15	72432087	72432090	+	Frame_Shift_Del	DEL	CAGT	CAGT	-			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr15:72432087_72432090delCAGT	uc021spq.1	+	1	456_459	c.123_126delCAGT	c.(121-126)aacagtfs	p.N41fs	SENP8_uc021spr.1_Frame_Shift_Del_p.N41fs|SENP8_uc021sps.1_Frame_Shift_Del_p.N41fs|SENP8_uc021spt.1_Frame_Shift_Del_p.N41fs|SENP8_uc002atp.3_Frame_Shift_Del_p.N41fs|SENP8_uc021spu.1_Frame_Shift_Del_p.N41fs	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	41	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						ACTTTGCCAACAGTCAGTTTCATG	0.475													-	72432090	CAGT	-	72432087	7	5	89	1	0	1	0	1	0	0	0	0	14052	477	17	0	125	0	SENP8	15	72432087	Frame_Shift_Del	DEL	CAGT	TCGA-06-5412-01A-01D-1696-08		72432087	30099305	50	5839											
RHBDL1	9028	broad.mit.edu	37	16	726867	726867	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr16:726867G>A	uc002cis.1	+	1	619	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	RHBDL1_uc002cir.1_Missense_Mutation_p.V133M|RHBDL1_uc010uun.1_Missense_Mutation_p.V133M	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	198					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCCACCCCCCGTGTTCATGGC	0.667													A	726867	G	A	726867	3	1	89	1	0	0	0	0	1	0	0	0	13321	1145	40	1	598	1	RHBDL1	16	726867	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		726867	89627886	51	5840											
NOD2	64127	broad.mit.edu	37	16	50733737	50733737	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr16:50733737C>G	uc002egm.1	+	1	517	c.412C>G	c.(412-414)Cgg>Ggg	p.R138G	NOD2_uc010cbj.1_Missense_Mutation_p.R111G|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Missense_Mutation_p.R111G|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	138	CARD 2.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCAGAGTCACCGGCCAGCCAT	0.632													G	50733737	C	G	50733737	3	3	89	1	0	0	0	0	1	0	0	0	10517	643	23	5	418	5	NOD2	16	50733737	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	50006870	50733737	39621016	52	5841											
GPR56	9289	broad.mit.edu	37	16	57688009	57688009	+	Silent	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr16:57688009C>T	uc002emb.2	+	5	1024	c.732C>T	c.(730-732)gcC>gcT	p.A244A	GPR56_uc002elz.1_Silent_p.A74A|GPR56_uc002ema.1_Silent_p.A69A|GPR56_uc002emc.2_Silent_p.A244A|GPR56_uc002emf.2_Silent_p.A244A|GPR56_uc010vhs.1_Silent_p.A244A|GPR56_uc002emd.2_Silent_p.A244A|GPR56_uc002eme.2_Silent_p.A244A|GPR56_uc010vht.1_Silent_p.A249A|GPR56_uc002emg.3_Silent_p.A244A|GPR56_uc010vhu.1_Silent_p.A69A	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	244					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						AGCCCACAGCCGGCCTCCAGG	0.662													T	57688009	C	T	57688009	2	4	89	1	0	0	0	0	0	0	0	1	6700	639	23	2		2	GPR56	16	57688009	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	6954272	57688009	32666744	53	5842											
NF1	4763	broad.mit.edu	37	17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr17:29652976_29652979delTCTC	uc002hgg.3	+	36	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.F1658fs	NF1_uc002hgh.3_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1658	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29652979	TCTC	-	29652976	7	5	89	1	0	1	0	1	0	0	0	0	10356	1780	62	0	5181	0	NF1	17	29652976	Frame_Shift_Del	DEL	TCTC	TCGA-06-5412-01A-01D-1696-08		29652976	51542234	54	5843											
KRT35	3886	broad.mit.edu	37	17	39637191	39637191	+	Silent	SNP	T	T	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr17:39637191T>A	uc002hws.3	-	0	202	c.159A>T	c.(157-159)tcA>tcT	p.S53S		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	53	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.S53L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCAGACCCACTGAGCAGGCAG	0.632													A	39637191	T	A	39637191	2	1	89	1	0	0	0	0	0	0	0	1	8472	1567	55	5		5	KRT35	17	39637191	Silent	SNP	T	TCGA-06-5412-01A-01D-1696-08	9984215	39637191	41558019	55	5844											
PTPRM	5797	broad.mit.edu	37	18	8244151	8244151	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr18:8244151G>A	uc002knn.4	+	14	2899	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D	PTPRM_uc010dkv.3_Missense_Mutation_p.G799D|PTPRM_uc010wzl.2_Missense_Mutation_p.G586D	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	799					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCTGAGCAGGGCACAAACTGC	0.483													A	8244151	G	A	8244151	3	1	89	1	0	0	0	0	1	0	0	0	12806	1203	42	3	2454	3	PTPRM	18	8244151	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		8244151	69833097	56	5845											
PPP4R1	9989	broad.mit.edu	37	18	9570482	9570482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr18:9570482G>A	uc002koe.1	-	10	1364	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.Q262*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.Q399*|PPP4R1_uc010wzp.1_Non-coding_Transcript	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	416					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GCTGCTTCCTGGTGAGATTCT	0.443													A	9570482	G	A	9570482	4	1	89	1	0	0	0	0	0	1	0	0	12403	1357	47	3	1646	3	PPP4R1	18	9570482	Nonsense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	1326331	9570482	68506766	57	5846											
NPC1	4864	broad.mit.edu	37	18	21120489	21120489	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr18:21120489C>T	uc002kum.4	-	16	2801	c.2527G>A	c.(2527-2529)Gtg>Atg	p.V843M	NPC1_uc010xaz.2_Missense_Mutation_p.V576M|NPC1_uc010xba.1_Missense_Mutation_p.V688M	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	843					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAACACCCACAAATATTGCT	0.363													T	21120489	C	T	21120489	3	4	89	1	0	0	0	0	1	0	0	0	10570	478	17	3	1345	3	NPC1	18	21120489	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	11550007	21120489	56956759	58	5847											
CREB3L3	84699	broad.mit.edu	37	19	4164609	4164609	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr19:4164609C>T	uc002lzl.3	+	4	802	c.686C>T	c.(685-687)aCc>aTc	p.T229I	CREB3L3_uc002lzm.3_Missense_Mutation_p.T219I|CREB3L3_uc010xib.2_Missense_Mutation_p.T218I|CREB3L3_uc010xic.2_Missense_Mutation_p.T220I	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	229					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T229P(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGCATCACCCTGCCCACT	0.617													T	4164609	C	T	4164609	3	4	89	1	0	0	0	0	1	0	0	0	3858	507	18	3	704	3	CREB3L3	19	4164609	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08		4164609	54964374	59	5848											
DNAJB1	3337	broad.mit.edu	37	19	14627500	14627500	+	Silent	SNP	T	T	C	rs143985567	byFrequency	TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr19:14627500T>C	uc002myz.1	-	1	610	c.570A>G	c.(568-570)ctA>ctG	p.L190L	DNAJB1_uc010xnr.1_Silent_p.L90L	NM_006145	NP_006136	P25685	DNJB1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 1 (DNAJB1), mRNA.	190					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	p.L190L(2)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CGTCGGGGTTTAGCCGCTTGT	0.483													C	14627500	T	C	14627500	2	2	89	1	0	0	0	0	0	0	0	1	4615	1741	61	4		4	DNAJB1	19	14627500	Silent	SNP	T	TCGA-06-5412-01A-01D-1696-08	10462891	14627500	44501483	60	5849											
NOP56	10528	broad.mit.edu	37	20	2633552	2633552	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:2633552A>T	uc002wgh.3	+	1	197	c.68A>T	c.(67-69)gAg>gTg	p.E23V	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_5'Flank|SNORD110_uc002wgj.3_5'Flank|SNORA51_uc002wgk.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	23					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGGAAGTGGAGGAGATCAGT	0.677													T	2633552	A	T	2633552	3	4	89	1	0	0	0	0	1	0	0	0	10539	304	11	5	74	5	NOP56	20	2633552	Missense_Mutation	SNP	A	TCGA-06-5412-01A-01D-1696-08		2633552	60391968	61	5850											
LBP	3929	broad.mit.edu	37	20	36992652	36992652	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:36992652G>A	uc002xic.1	+	6	711	c.676G>A	c.(676-678)Gcc>Acc	p.A226T		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	226					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TGACAGTTTCGCCGACATTGA	0.562													A	36992652	G	A	36992652	3	1	89	1	0	0	0	0	1	0	0	0	8651	1087	38	1	702	1	LBP	20	36992652	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	34359100	36992652	26032868	62	5851											
WFDC9	259240	broad.mit.edu	37	20	44237357	44237357	+	Missense_Mutation	SNP	G	G	A	rs139643257	byFrequency	TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:44237357G>A	uc002xoy.3	-	3	402	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN	Homo sapiens WAP four-disulfide core domain 9 (WFDC9), mRNA.	62						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TGATTTGGACGTACACAAGTC	0.453													A	44237357	G	A	44237357	3	1	89	1	0	0	0	0	1	0	0	0	17354	1145	40	1	93	1	WFDC9	20	44237357	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	7244705	44237357	18788163	63	5852											
TP53RK	112858	broad.mit.edu	37	20	45315631	45315631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:45315631C>A	uc002xsk.3	-	1	746	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	175	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174fs*23(1)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TTCAGCTGTTCCAGGGGGGGT	0.498													A	45315631	C	A	45315631	4	1	89	1	0	0	0	0	0	1	0	0	16387	864	30	5	242	5	TP53RK	20	45315631	Nonsense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	1078274	45315631	17709889	64	5853											
VCX3B	425054	broad.mit.edu	37	X	8433593	8433593	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:8433593G>C	uc011mht.2	+	2	409	c.102_splice	c.e2+1	p.K34_splice	VCX3B_uc004csd.1_Splice_Site_p.K34_splice|VCX3B_uc022bsj.1_5'Flank	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	34						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CGAAGAAGAAGGTGAGTGACC	0.632													C	8433593	G	C	8433593	3	2	89	1	0	0	0	0	1	0	0	0	17142	1014	35	5	104	5	VCX3B	23	8433593	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		8433593	146836967	65	5854											
USP9X	8239	broad.mit.edu	37	X	41075424	41075424	+	Silent	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:41075424G>A	uc004dfb.3	+	34	6237	c.5604G>A	c.(5602-5604)gtG>gtA	p.V1868V	USP9X_uc004dfc.3_Silent_p.V1868V	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1868					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTGTGGGTGTGCTCGTACACA	0.448													A	41075424	G	A	41075424	2	1	89	1	0	0	0	0	0	0	0	1	17087	1306	46	3		3	USP9X	23	41075424	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	32641831	41075424	114195136	66	5855											
TEX11	56159	broad.mit.edu	37	X	69902635	69902635	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:69902635G>A	uc004dyl.3	-	14	1252	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	TEX11_uc004dyk.3_Missense_Mutation_p.R39C|TEX11_uc004dym.3_Missense_Mutation_p.R349C	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	364							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GACTTAAAACGTTCATGAATA	0.358													A	69902635	G	A	69902635	3	1	89	1	0	0	0	0	1	0	0	0	15771	1145	40	1	1800	1	TEX11	23	69902635	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	28827211	69902635	85367925	67	5856											
FHL1	2273	broad.mit.edu	37	X	135291466	135291466	+	Silent	SNP	C	C	T			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:135291466C>T	uc004ezo.3	+	6	1082	c.753C>T	c.(751-753)caC>caT	p.H251H	FHL1_uc010nrz.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc022ceu.1_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	251					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CAGTGTGCCACGGGAAACGCT	0.552											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	135291466	C	T	135291466	2	4	89	1	0	0	0	0	0	0	0	1	5878	535	19	1		1	FHL1	23	135291466	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	65388831	135291466	19979094	68	5857											
SLITRK2	84631	broad.mit.edu	37	X	144905002	144905002	+	Silent	SNP	T	T	C			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:144905002T>C	uc022cfn.1	+	0	1059	c.1059T>C	c.(1057-1059)aaT>aaC	p.N353N	SLITRK2_uc004fcd.3_Silent_p.N353N|SLITRK2_uc010nsp.3_Silent_p.N353N|SLITRK2_uc010nso.3_Silent_p.N353N|SLITRK2_uc011mwq.2_Silent_p.N353N|SLITRK2_uc011mwr.2_Silent_p.N353N|SLITRK2_uc011mws.2_Silent_p.N353N|SLITRK2_uc004fcg.3_Silent_p.N353N|SLITRK2_uc011mwt.2_Silent_p.N353N	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	353	LRRNT.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGACAATGGTCTGAATG	0.493													C	144905002	T	C	144905002	2	2	89	1	0	0	0	0	0	0	0	1	14743	1461	51	4		4	SLITRK2	23	144905002	Silent	SNP	T	TCGA-06-5412-01A-01D-1696-08	9613536	144905002	10365558	69	5858											
PLXNA3	55558	broad.mit.edu	37	X	153689599	153689599	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:153689599C>A	uc004flm.3	+	2	928	c.755C>A	c.(754-756)aCa>aAa	p.T252K		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	252	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTTGGACACAGCGGGCGAG	0.567													A	153689599	C	A	153689599	3	1	89	1	0	0	0	0	1	0	0	0	12121	478	17	5	761	5	PLXNA3	23	153689599	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	8784597	153689599	1580961	70	5859											
KIAA1751	85452	broad.mit.edu	37	1	1918455	1918455	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:1918455G>A	uc001aim.1	-	4	472	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	KIAA1751_uc009vkz.1_Missense_Mutation_p.R106W|KIAA1751_uc001ain.1_Missense_Mutation_p.R106W	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	106										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CGCCTCTGCCGACAGGCGCGC	0.632													A	1918455	G	A	1918455	3	1	90	1	0	0	0	0	1	0	0	0	8256	1057	37	2	2028	2	KIAA1751	1	1918455	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		1918455	247332166	1	5860											
EIF4G3	8672	broad.mit.edu	37	1	21268743	21268743	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:21268743G>C	uc001bec.3	-	8	992	c.736C>G	c.(736-738)Caa>Gaa	p.Q246E	EIF4G3_uc010odi.2_5'UTR|EIF4G3_uc010odj.2_Missense_Mutation_p.Q245E|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Missense_Mutation_p.Q245E|EIF4G3_uc001bee.3_Missense_Mutation_p.Q252E|EIF4G3_uc001beg.3_Missense_Mutation_p.Q245E|EIF4G3_uc010odk.2_Missense_Mutation_p.Q246E|EIF4G3_uc001beh.3_Missense_Mutation_p.Q257E	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	246					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGCCTTCTTGTTCTTTCTTC	0.448													C	21268743	G	C	21268743	3	2	90	1	0	0	0	0	1	0	0	0	5038	1386	48	5	4117	5	EIF4G3	1	21268743	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	19350288	21268743	227981878	2	5861											
RPL5	6125	broad.mit.edu	37	1	93298955	93298955	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:93298955delA	uc001doz.3	+	1	91	c.13delA	c.(13-15)aaafs	p.K5fs	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	5					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GGGGTTTGTTAAAGTTGTTAA	0.299													-	93298955	A	-	93298955	7	5	90	1	0	1	0	1	0	0	0	0	13597	363	13	0	19	0	RPL5	1	93298955	Frame_Shift_Del	DEL	A	TCGA-06-5413-01A-01D-1696-08	72030212	93298955	155951666	3	5862											
OVGP1	5016	broad.mit.edu	37	1	111957411	111957411	+	Missense_Mutation	SNP	C	C	T	rs150120731	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:111957411C>T	uc001eba.3	-	10	1768	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	OVGP1_uc001eaz.3_Missense_Mutation_p.R533H|OVGP1_uc010owb.2_Missense_Mutation_p.R219H	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	571					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.R571S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACCTTTTCACGGGCCACAGC	0.527													T	111957411	C	T	111957411	3	4	90	1	0	0	0	0	1	0	0	0	11325	536	19	1	328	1	OVGP1	1	111957411	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	18658456	111957411	137293210	4	5863											
SH2D1B	117157	broad.mit.edu	37	1	162368789	162368789	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:162368789T>C	uc001gbz.1	-	2	409	c.287A>G	c.(286-288)cAc>cGc	p.H96R	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	96	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTTAAAAGGTGAACCACCAT	0.423													C	162368789	T	C	162368789	3	2	90	1	0	0	0	0	1	0	0	0	14231	1696	59	4	119	4	SH2D1B	1	162368789	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	50411378	162368789	86881832	5	5864											
RYR2	6262	broad.mit.edu	37	1	237947200	237947200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:237947200C>T	uc001hyl.1	+	89	12308	c.12188C>T	c.(12187-12189)aCg>aTg	p.T4063M	RYR2_uc010pya.2_Missense_Mutation_p.T478M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4063					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.T4061M(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)			CAGTCAGAAACGGAATTTCTT	0.483													T	237947200	C	T	237947200	3	4	90	1	0	0	0	0	1	0	0	0	13769	536	19	1	12546	1	RYR2	1	237947200	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	75578411	237947200	11303421	6	5865											
OR2T3	343173	broad.mit.edu	37	1	248637275	248637275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:248637275C>A	uc001iel.1	+	0	624	c.624C>A	c.(622-624)tgC>tgA	p.C208*		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C207*(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)			ACCTGTGCTGCATCCTCATGC	0.532													A	248637275	C	A	248637275	4	1	90	1	0	0	0	0	0	1	0	0	11023	718	25	5	626	5	OR2T3	1	248637275	Nonsense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	10690075	248637275	613346	7	5866											
APOB	338	broad.mit.edu	37	2	21228712	21228712	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:21228712G>A	uc002red.3	-	25	11156	c.11028C>T	c.(11026-11028)atC>atT	p.I3676I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3676					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGACTGGTAGGATGATATTTT	0.453													A	21228712	G	A	21228712	2	1	90	1	0	0	0	0	0	0	0	1	785	1164	41	3		3	APOB	2	21228712	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		21228712	221970661	8	5867											
NLRC4	58484	broad.mit.edu	37	2	32460481	32460481	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:32460481A>C	uc002roi.3	-	7	3032	c.2771T>G	c.(2770-2772)aTt>aGt	p.I924S	NLRC4_uc021vfq.1_Missense_Mutation_p.I924S|NLRC4_uc002roj.2_Missense_Mutation_p.I924S|NLRC4_uc010ezt.2_Missense_Mutation_p.I259S	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	924					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I924T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAAAATTCTAATCTCTGTATC	0.428													C	32460481	A	C	32460481	3	2	90	1	0	0	0	0	1	0	0	0	10469	101	4	5	311	5	NLRC4	2	32460481	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08	11231769	32460481	210738892	9	5868											
CEP68	23177	broad.mit.edu	37	2	65296848	65296848	+	Silent	SNP	C	C	A	rs112673076		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:65296848C>A	uc002sdl.4	+	1	484	c.270C>A	c.(268-270)ccC>ccA	p.P90P	CEP68_uc002sdj.2_Silent_p.P90P|CEP68_uc010yqb.1_Silent_p.P90P|CEP68_uc002sdk.4_Silent_p.P90P|CEP68_uc010yqc.2_Silent_p.P90P|CEP68_uc010yqd.1_Silent_p.P90P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	90					centrosome organization	centrosome		p.P90P(2)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGAGAGCCCGTAGCTGAGA	0.627													A	65296848	C	A	65296848	2	1	90	1	0	0	0	0	0	0	0	1	3258	639	23	5		5	CEP68	2	65296848	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08	32836367	65296848	177902525	10	5869											
FAM123C	205147	broad.mit.edu	37	2	131520873	131520873	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:131520873G>A	uc021voy.1	+	0	1228	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	FAM123C_uc002trw.2_Missense_Mutation_p.A410T|FAM123C_uc010fmv.2_Missense_Mutation_p.A410T|FAM123C_uc010fms.1_Missense_Mutation_p.A410T|FAM123C_uc010fmt.1_Missense_Mutation_p.A410T|FAM123C_uc010fmu.1_Missense_Mutation_p.A410T	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	410										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CACTCCTGCCGCCACCTTCCC	0.617													A	131520873	G	A	131520873	3	1	90	1	0	0	0	0	1	0	0	0	5424	1087	38	1	1230	1	FAM123C	2	131520873	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	66224025	131520873	111678500	11	5870											
SCN3A	6328	broad.mit.edu	37	2	165997260	165997260	+	Silent	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:165997260T>C	uc002ucx.3	-	12	2412	c.1920A>G	c.(1918-1920)gcA>gcG	p.A640A	SCN3A_uc002ucy.3_Intron|SCN3A_uc002ucz.3_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	640						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCTTCCCATTTGCTGGAAGCC	0.542													C	165997260	T	C	165997260	2	2	90	1	0	0	0	0	0	0	0	1	13918	1799	63	4		4	SCN3A	2	165997260	Silent	SNP	T	TCGA-06-5413-01A-01D-1696-08	34476387	165997260	77202113	12	5871											
TTN	7273	broad.mit.edu	37	2	179647077	179647077	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:179647077G>A	uc021vsy.1	-	19	3467	c.3242C>T	c.(3241-3243)gCg>gTg	p.A1081V	TTN_uc021vsz.1_Missense_Mutation_p.A1035V|TTN_uc021vta.1_Missense_Mutation_p.A1035V|TTN_uc021vtb.1_Missense_Mutation_p.A1035V|TTN_uc002unb.2_Missense_Mutation_p.A1081V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1081			A -> T (in dbSNP:rs55914517).				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)			AAAGTAAGGCGCGGCAGGTTC	0.502													A	179647077	G	A	179647077	3	1	90	1	0	0	0	0	1	0	0	0	16732	1087	38	1	108118	1	TTN	2	179647077	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	13649817	179647077	63552296	13	5872											
MARS2	92935	broad.mit.edu	37	2	198570303	198570303	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:198570303G>A	uc002uuq.3	+	0	276	c.174G>A	c.(172-174)ccG>ccA	p.P58P	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	58					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.A57A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	ACGCGGCGCCGCACATCGGGC	0.642													A	198570303	G	A	198570303	2	1	90	1	0	0	0	0	0	0	0	1	9317	1074	38	1		1	MARS2	2	198570303	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	18923226	198570303	44629070	14	5873											
HDLBP	3069	broad.mit.edu	37	2	242202197	242202197	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:242202197T>C	uc002waz.3	-	4	552	c.379A>G	c.(379-381)Atc>Gtc	p.I127V	HDLBP_uc002wba.3_Missense_Mutation_p.I127V|HDLBP_uc021vzg.1_Missense_Mutation_p.I163V|HDLBP_uc010fzn.1_Intron|DKFZp686L08115_uc010zoo.1_5'Flank	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	127					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GACACCATGATGGAGAGGCCT	0.512													C	242202197	T	C	242202197	3	2	90	1	0	0	0	0	1	0	0	0	7025	1464	51	4	3523	4	HDLBP	2	242202197	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	43631894	242202197	997176	15	5874											
SLC6A20	54716	broad.mit.edu	37	3	45800488	45800488	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:45800488G>A	uc011bai.2	-	10	1885	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	SLC6A20_uc003cow.3_Silent_p.D237D|SLC6A20_uc011baj.2_Silent_p.D550D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	587					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CGGGGTCTGCGTCTCCCCTCT	0.577													A	45800488	G	A	45800488	2	1	90	1	0	0	0	0	0	0	0	1	14684	1136	40	1		1	SLC6A20	3	45800488	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		45800488	152221942	16	5875											
NISCH	11188	broad.mit.edu	37	3	52525480	52525480	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:52525480G>A	uc003ded.4	+	19	3989	c.3855G>A	c.(3853-3855)ccG>ccA	p.P1285P	NISCH_uc003dee.4_Silent_p.P774P|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1285					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CGCCCTCGCCGGAGCCTGTTG	0.602													A	52525480	G	A	52525480	2	1	90	1	0	0	0	0	0	0	0	1	10432	1103	39	2		2	NISCH	3	52525480	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	6724992	52525480	145496950	17	5876											
IL17RD	54756	broad.mit.edu	37	3	57132318	57132318	+	Silent	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:57132318C>T	uc003dil.3	-	11	1502	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	IL17RD_uc003dik.3_Silent_p.A447A|IL17RD_uc010hna.3_Silent_p.A327A|IL17RD_uc011bex.1_Silent_p.A327A	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	471	SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity	p.A471A(1)|p.A327A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ACTTGCTGAGCGCCGCGGACG	0.572													T	57132318	C	T	57132318	2	4	90	1	0	0	0	0	0	0	0	1	7642	755	27	1		1	IL17RD	3	57132318	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08	4606838	57132318	140890112	18	5877											
CD86	942	broad.mit.edu	37	3	121828238	121828238	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:121828238G>A	uc003eet.3	+	4	958	c.830G>A	c.(829-831)cGc>cAc	p.R277H	CD86_uc011bjo.2_Missense_Mutation_p.R195H|CD86_uc011bjp.2_Missense_Mutation_p.R165H|CD86_uc003eeu.3_Missense_Mutation_p.R271H|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	277					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AAGCGGCCTCGCAACTCTTAT	0.468													A	121828238	G	A	121828238	3	1	90	1	0	0	0	0	1	0	0	0	3043	1087	38	1	848	1	CD86	3	121828238	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	64695920	121828238	76194192	19	5878											
PIK3CA	5290	broad.mit.edu	37	3	178916728	178916728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:178916728G>A	uc003fjk.3	+	1	272	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	39	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R38H(8)|p.E39K(5)|p.R38C(2)|p.R38L(1)|p.R38G(1)|p.E39G(1)|p.R38S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATGCCTCCGTGAGGCTACATT	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916728	G	A	178916728	3	1	90	1	0	0	0	0	1	0	0	0	11913	1291	45	3	117	3	PIK3CA	3	178916728	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	57088490	178916728	19105702	20	5879											
SLC4A4	8671	broad.mit.edu	37	4	72399971	72399971	+	Missense_Mutation	SNP	G	G	A	rs150967020		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:72399971G>A	uc010iic.3	+	17	2425	c.2308G>A	c.(2308-2310)Gtt>Att	p.V770I	SLC4A4_uc003hfy.3_Missense_Mutation_p.V770I|SLC4A4_uc010iib.3_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.3_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.4_Missense_Mutation_p.V726I|SLC4A4_uc010iid.3_5'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	770	Interaction with CA4.					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.V770I(2)|p.V726I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGGTTGGTTCGTTCCACCGTT	0.423													A	72399971	G	A	72399971	3	1	90	1	0	0	0	0	1	0	0	0	14656	1145	40	1	2495	1	SLC4A4	4	72399971	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		72399971	118754305	21	5880											
PPEF2	5470	broad.mit.edu	37	4	76797822	76797822	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:76797822A>G	uc003hix.3	-	10	1295	c.938T>C	c.(937-939)gTt>gCt	p.V313A	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.V313A	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	313	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CATGGTGGAAACTATCTAAAC	0.502													G	76797822	A	G	76797822	3	3	90	1	0	0	0	0	1	0	0	0	12308	43	2	4	1351	4	PPEF2	4	76797822	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08	4397851	76797822	114356454	22	5881											
MAPK10	5602	broad.mit.edu	37	4	87028499	87028499	+	Silent	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:87028499C>T	uc003hps.3	-	4	929	c.243G>A	c.(241-243)gcG>gcA	p.A81A	MAPK10_uc010ikg.3_Silent_p.A43A|MAPK10_uc003hpr.3_Silent_p.A43A|MAPK10_uc003hpt.3_Silent_p.A81A|MAPK10_uc003hpu.3_Silent_p.A81A|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc011ccw.2_5'UTR|MAPK10_uc003hpo.3_5'UTR|MAPK10_uc003hpp.3_5'UTR	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	81	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CAGCATCATACGCGGCACTGT	0.443													T	87028499	C	T	87028499	2	4	90	1	0	0	0	0	0	0	0	1	9272	523	19	1		1	MAPK10	4	87028499	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08	10230677	87028499	104125777	23	5882											
BBS12	166379	broad.mit.edu	37	4	123665161	123665161	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:123665161C>T	uc021xrm.1	+	2	2495	c.2114C>T	c.(2113-2115)aCg>aTg	p.T705M	BBS12_uc003ieu.3_Missense_Mutation_p.T705M|BBS12_uc021xrn.1_Missense_Mutation_p.T705M	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	705					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAGGAATTAACGGGCTTTCTA	0.348									Bardet-Biedl syndrome				T	123665161	C	T	123665161	3	4	90	1	0	0	0	0	1	0	0	0	1337	536	19	1	2116	1	BBS12	4	123665161	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	36636662	123665161	67489115	24	5883											
PLK4	10733	broad.mit.edu	37	4	128807278	128807278	+	Silent	SNP	A	A	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:128807278A>T	uc003ifo.3	+	4	1027	c.753A>T	c.(751-753)gcA>gcT	p.A251A	PLK4_uc011cgs.2_Silent_p.A219A|PLK4_uc011cgt.2_Silent_p.A210A	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	251	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAAATCCAGCAGATCGTTTAA	0.353													T	128807278	A	T	128807278	2	4	90	1	0	0	0	0	0	0	0	1	12098	175	7	5		5	PLK4	4	128807278	Silent	SNP	A	TCGA-06-5413-01A-01D-1696-08	5142117	128807278	62346998	25	5884											
NEK1	4750	broad.mit.edu	37	4	170398275	170398275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:170398275delT	uc003isd.2	-	26	3012	c.2434_splice	c.e26+1	p.R812_splice	NEK1_uc003ise.2_Splice_Site_p.R768_splice|NEK1_uc003isb.2_Splice_Site_p.R784_splice|NEK1_uc003isc.2_Splice_Site_p.R740_splice|NEK1_uc003isf.2_Splice_Site_p.R715_splice	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	784					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTATACATACTTTCAGTTGTA	0.343													-	170398275	T	-	170398275	7	5	90	1	0	1	0	1	0	0	0	0	10321	1623	56	0	1470	0	NEK1	4	170398275	Frame_Shift_Del	DEL	T	TCGA-06-5413-01A-01D-1696-08	41590997	170398275	20756001	26	5885											
ADAMTS12	81792	broad.mit.edu	37	5	33549384	33549384	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:33549384G>A	uc003jia.1	-	20	4393	c.4230C>T	c.(4228-4230)ggC>ggT	p.G1410G	ADAMTS12_uc010iuq.1_Silent_p.G1325G	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1410	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1409A(1)		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						GGGGAGGAATGCCGGCCAGGA	0.612										HNSCC(64;0.19)			A	33549384	G	A	33549384	2	1	90	1	0	0	0	0	0	0	0	1	257	1306	46	3		3	ADAMTS12	5	33549384	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		33549384	147365876	27	5886											
IL3	3562	broad.mit.edu	37	5	131396547	131396547	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:131396547C>T	uc003kwe.1	+	0	201	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_000588	NP_000579	P08700	IL3_HUMAN	Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.	50					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	AAAGCAGCCACCTTTGCCTTT	0.522													T	131396547	C	T	131396547	3	4	90	1	0	0	0	0	1	0	0	0	7689	507	18	3	150	3	IL3	5	131396547	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	97847163	131396547	49518713	28	5887											
FAT2	2196	broad.mit.edu	37	5	150947262	150947262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:150947262G>A	uc003lue.4	-	0	1244	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	FAT2_uc010jhx.1_Nonsense_Mutation_p.R411*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	411	Cadherin 3.				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)			AACCCAGTTCGAGCATTAAGT	0.532													A	150947262	G	A	150947262	4	1	90	1	0	0	0	0	0	1	0	0	5690	1066	37	2	11910	2	FAT2	5	150947262	Nonsense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	19550715	150947262	29967998	29	5888											
BRPF3	27154	broad.mit.edu	37	6	36185728	36185728	+	Silent	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:36185728C>T	uc003olv.4	+	8	3248	c.3024C>T	c.(3022-3024)agC>agT	p.S1008S	BRPF3_uc010jwb.3_Silent_p.S738S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron|BRPF3_uc010jwd.3_5'UTR	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	1008					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ACACCGAAAGCGGGTCTGACT	0.512													T	36185728	C	T	36185728	2	4	90	1	0	0	0	0	0	0	0	1	1521	767	27	1		1	BRPF3	6	36185728	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08		36185728	134929339	30	5889											
LGSN	51557	broad.mit.edu	37	6	63990385	63990385	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:63990385G>A	uc003peh.3	-	3	1105	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	357					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.C357S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GCGCCATCAGGCAGCTGAGCG	0.498													A	63990385	G	A	63990385	2	1	90	1	0	0	0	0	0	0	0	1	8759	1195	42	3		3	LGSN	6	63990385	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	27804657	63990385	107124682	31	5890											
PPIL6	285755	broad.mit.edu	37	6	109752404	109752404	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:109752404C>T	uc010kdp.3	-	2	957	c.376G>A	c.(376-378)Gca>Aca	p.A126T	PPIL6_uc003ptg.4_Missense_Mutation_p.A126T|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	126					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCAGTGAGTGCGTCATAAAGT	0.393													T	109752404	C	T	109752404	3	4	90	1	0	0	0	0	1	0	0	0	12331	768	27	1	665	1	PPIL6	6	109752404	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	45762019	109752404	61362663	32	5891											
UNC93A	54346	broad.mit.edu	37	6	167704889	167704889	+	Translation_Start_Site	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:167704889C>A	uc003qvq.3	+	0					UNC93A_uc003qvr.3_5'UTR	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.							integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTCTTGGTACTGATTGTTTT	0.398													A	167704889	C	A	167704889	1	1	90	1	0	0	0	0	0	0	0	0	16993	580	20	5		5	UNC93A	6	167704889	Translation_Start_Site	SNP	C	TCGA-06-5413-01A-01D-1696-08	57952485	167704889	3410178	33	5892											
DAGLB	221955	broad.mit.edu	37	7	6476110	6476110	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:6476110C>A	uc003sqa.3	-	2	472	c.302G>T	c.(301-303)cGc>cTc	p.R101L	DAGLB_uc011jwt.2_5'Flank|DAGLB_uc011jwu.2_Missense_Mutation_p.R101L|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Intron|DAGLB_uc003sqd.4_Missense_Mutation_p.R60L|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	101					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAGCGCCAGGCGGATGTAAAG	0.522													A	6476110	C	A	6476110	3	1	90	1	0	0	0	0	1	0	0	0	4227	768	27	5	1768	5	DAGLB	7	6476110	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		6476110	152662553	34	5893											
FAM188B	84182	broad.mit.edu	37	7	30915152	30915152	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:30915152G>A	uc003tbt.3	+	14	1929	c.1852G>A	c.(1852-1854)Gtt>Att	p.V618I	FAM188B_uc010kwe.3_Missense_Mutation_p.V589I|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Missense_Mutation_p.V138I	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	618										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTGTCCAACGTTTTCAACGA	0.463													A	30915152	G	A	30915152	3	1	90	1	0	0	0	0	1	0	0	0	5515	1145	40	1	1910	1	FAM188B	7	30915152	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	24439042	30915152	128223511	35	5894											
EGFR	1956	broad.mit.edu	37	7	55259469	55259469	+	Missense_Mutation	SNP	G	G	C	rs146795390		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:55259469G>C	uc003tqk.3	+	20	2773	c.2527G>C	c.(2527-2529)Gta>Cta	p.V843L	EGFR_uc022adm.1_Missense_Mutation_p.V843L|EGFR_uc010kzg.2_Missense_Mutation_p.V798L|EGFR_uc022adn.1_Missense_Mutation_p.V798L|EGFR_uc011kco.2_Missense_Mutation_p.V790L|AK123474_uc003tqo.3_5'Flank|EGFR_uc022ado.1_Missense_Mutation_p.V78L	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	843	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V843I(11)|p.V843L(2)|p.N842D(2)|p.N842H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCCAGGAACGTACTGGTGAA	0.537		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55259469	G	C	55259469	3	2	90	1	0	0	0	0	1	0	0	0	4967	1145	40	5	2873	5	EGFR	7	55259469	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	24344317	55259469	103879194	36	5895											
SERPINE1	5054	broad.mit.edu	37	7	100771685	100771685	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:100771685C>G	uc003uxt.3	+	1	159	c.11C>G	c.(10-12)tCt>tGt	p.S4C	SERPINE1_uc011kkj.2_Missense_Mutation_p.S4C	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	4					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	ATGCAGATGTCTCCAGCCCTC	0.622													G	100771685	C	G	100771685	3	3	90	1	0	0	0	0	1	0	0	0	14111	913	32	5	13	5	SERPINE1	7	100771685	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	45512216	100771685	58366978	37	5896											
OR2A1	346528	broad.mit.edu	37	7	144015519	144015519	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:144015519T>G	uc011kud.2	+	0	302	c.302T>G	c.(301-303)tTt>tGt	p.F101C	OR2A9P_uc003wec.1_Intron	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					ACGCAGACCTTTCTCTGTTTG	0.572													G	144015519	T	G	144015519	3	3	90	1	0	0	0	0	1	0	0	0	10974	1841	64	5	304	5	OR2A1	7	144015519	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	43243834	144015519	15123144	38	5897											
SSPO	23145	broad.mit.edu	37	7	149493793	149493793	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:149493793G>A	uc010lpk.3	+	44	6780	c.6780G>A	c.(6778-6780)tcG>tcA	p.S2260S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2263	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGATGGCTCGGATGAGGAGG	0.652													A	149493793	G	A	149493793	2	1	90	1	0	0	0	0	0	0	0	1	15188	1103	39	2		2	SSPO	7	149493793	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	5478274	149493793	9644870	39	5898											
UBE3C	9690	broad.mit.edu	37	7	157046788	157046788	+	Silent	SNP	T	T	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:157046788T>C	uc010lqs.3	+	19	3147	c.2835T>C	c.(2833-2835)aaT>aaC	p.N945N	UBE3C_uc003wni.4_Silent_p.N308N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	945	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			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)		GCCTTGCCAATGTCGTCAGCC	0.562													C	157046788	T	C	157046788	2	2	90	1	0	0	0	0	0	0	0	1	16878	1461	51	4		4	UBE3C	7	157046788	Silent	SNP	T	TCGA-06-5413-01A-01D-1696-08	7552995	157046788	2091875	40	5899											
GCNT1	2650	broad.mit.edu	37	9	79118132	79118132	+	Nonsense_Mutation	SNP	G	G	T	rs656106		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr9:79118132G>T	uc022bif.1	+	0	835	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	GCNT1_uc010mpf.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mpg.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mph.3_Nonsense_Mutation_p.E279*|GCNT1_uc004akf.4_Nonsense_Mutation_p.E279*|GCNT1_uc010mpi.3_Nonsense_Mutation_p.E279*|GCNT1_uc004akh.4_Nonsense_Mutation_p.E279*	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	279	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TCCTCCACTCGAAACACCTCT	0.463													T	79118132	G	T	79118132	4	4	90	1	0	0	0	0	0	1	0	0	6300	1059	37	5	837	5	GCNT1	9	79118132	Nonsense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		79118132	62095299	41	5900											
MRC1	4360	broad.mit.edu	37	10	17949554	17949554	+	Silent	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:17949554G>A	uc001ipk.3	+	27	4021	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T		NM_002438	NP_002429	P22897	MRC1_HUMAN	Homo sapiens mannose receptor, C type 1 (MRC1), mRNA.	1306	C-type lectin 8.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GACCAGGGACGTGGCTGTGGA	0.383													A	17949554	G	A	17949554	2	1	90	1	0	0	0	0	0	0	0	1	9756	1132	40	1		1	MRC1	10	17949554	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		17949554	117585193	42	5901											
CTNNA3	29119	broad.mit.edu	37	10	69407205	69407205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:69407205C>T	uc009xpn.1	-	1	190	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	CTNNA3_uc001jmw.2_Missense_Mutation_p.V23M|CTNNA3_uc001jmx.4_Missense_Mutation_p.V23M|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.V35M	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	23					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCTTCTCCACGGTGAATGTT	0.393													T	69407205	C	T	69407205	3	4	90	1	0	0	0	0	1	0	0	0	4014	536	19	1	2688	1	CTNNA3	10	69407205	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	51457651	69407205	66127542	43	5902											
TTC17	55761	broad.mit.edu	37	11	43411222	43411222	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:43411222A>C	uc001mxi.3	+	2	340	c.270A>C	c.(268-270)aaA>aaC	p.K90N	TTC17_uc001mxh.3_Missense_Mutation_p.K90N|TTC17_uc010rfj.2_Missense_Mutation_p.K33N	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	90							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTGCTCAAAAAATTCACATAG	0.393													C	43411222	A	C	43411222	3	2	90	1	0	0	0	0	1	0	0	0	16681	11	1	5	280	5	TTC17	11	43411222	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08		43411222	91595294	44	5903											
OR4D9	390199	broad.mit.edu	37	11	59282555	59282555	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:59282555C>T	uc010rkv.2	+	0	170	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CACCTTCATACGCCCATGTAC	0.433													T	59282555	C	T	59282555	3	4	90	1	0	0	0	0	1	0	0	0	11059	536	19	1	172	1	OR4D9	11	59282555	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	15871333	59282555	75723961	45	5904											
GLB1L3	112937	broad.mit.edu	37	11	134182345	134182345	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:134182345G>A	uc009zdf.3	+	13	1750	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	464					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATCTGCTCCGGAGGCCGCCT	0.607													A	134182345	G	A	134182345	3	1	90	1	0	0	0	0	1	0	0	0	6430	1117	39	2	1444	2	GLB1L3	11	134182345	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	74899790	134182345	824171	46	5905											
KLRD1	3824	broad.mit.edu	37	12	10466085	10466085	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr12:10466085A>T	uc009zhi.3	+	4					KLRD1_uc001qxw.4_Missense_Mutation_p.E131V|KLRD1_uc001qxx.4_Missense_Mutation_p.E131V|KLRD1_uc001qxy.4_Missense_Mutation_p.E100V|KLRD1_uc009zhh.3_Missense_Mutation_p.E110V|KLRD1_uc001qxz.4_Missense_Mutation_p.E132V			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.						cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TGGTTGTGGGAGAATGGCTCT	0.418													T	10466085	A	T	10466085	3	4	90	1	0	0	0	0	1	0	0	0	8419	304	11	5	410	5	KLRD1	12	10466085	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08		10466085	123385810	47	5906											
TEP1	7011	broad.mit.edu	37	14	20848171	20848171	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:20848171A>G	uc001vxe.3	-	34	5085	c.5045T>C	c.(5044-5046)gTg>gCg	p.V1682A	TEP1_uc010ahk.3_Missense_Mutation_p.V1025A|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.V1574A|TEP1_uc010tlh.1_Missense_Mutation_p.V20A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1682					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			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)		GGAGAAGGCCACAGCAGTAGG	0.507													G	20848171	A	G	20848171	3	3	90	1	0	0	0	0	1	0	0	0	15756	159	6	4	2922	4	TEP1	14	20848171	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08		20848171	86501369	48	5907											
CHD8	57680	broad.mit.edu	37	14	21860822	21860832	+	Frame_Shift_Del	DEL	AGGAGTCAATG	AGGAGTCAATG	-			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:21860822_21860832delAGGAGTCAATG	uc001war.2	-	32	6670_6680	c.6605_6615delCATTGACTCCT	c.(6604-6615)tcattgactcctfs	p.S2202fs	CHD8_uc001was.2_Frame_Shift_Del_p.S1923fs|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2202					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATATTCTCCAGGAGTCAATGAGGGACTGTC	0.555													-	21860832	AGGAGTCAATG	-	21860822	7	5	90	1	0	1	0	1	0	0	0	0	3331	175	7	0	1150	0	CHD8	14	21860822	Frame_Shift_Del	DEL	AGGAGTCAATG	TCGA-06-5413-01A-01D-1696-08	1012651	21860822	85488718	49	5908											
TMEM229B	161145	broad.mit.edu	37	14	67940502	67940502	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:67940502C>T	uc001xjk.3	-	2	549	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.V47M	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	47						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGGCCCACACGCTCGTGACC	0.617													T	67940502	C	T	67940502	3	4	90	1	0	0	0	0	1	0	0	0	16145	536	19	1	368	1	TMEM229B	14	67940502	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	46079680	67940502	39409038	50	5909											
PTX4	390667	broad.mit.edu	37	16	1537571	1537571	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:1537571C>T	uc010uvf.2	-	1	527	c.527G>A	c.(526-528)gGc>gAc	p.G176D		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	181						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTGCAGTGCCAGGGTGGGC	0.726													T	1537571	C	T	1537571	3	4	90	1	0	0	0	0	1	0	0	0	12823	739	26	3	901	3	PTX4	16	1537571	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		1537571	88817182	51	5910											
PRKCB	5579	broad.mit.edu	37	16	24104126	24104126	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:24104126A>T	uc002dmd.3	+	5	741	c.544A>T	c.(544-546)Aac>Tac	p.N182Y	PRKCB_uc002dme.3_Missense_Mutation_p.N182Y	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	182	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AGATGCTAAAAACCTTGTACC	0.418													T	24104126	A	T	24104126	3	4	90	1	0	0	0	0	1	0	0	0	12508	14	1	5	566	5	PRKCB	16	24104126	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08	22566555	24104126	66250627	52	5911											
SPNS1	83985	broad.mit.edu	37	16	28992797	28992797	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:28992797C>A	uc010vdi.1	+	6	810	c.670C>A	c.(670-672)Ccg>Acg	p.P224T	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.P151T|SPNS1_uc002dsa.2_Missense_Mutation_p.P224T|SPNS1_uc002drz.2_Missense_Mutation_p.P224T|SPNS1_uc010byp.2_Missense_Mutation_p.P202T|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	224					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCAGGTGACACCGGGTCTAGG	0.622											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	28992797	C	A	28992797	3	1	90	1	0	0	0	0	1	0	0	0	15073	507	18	5	692	5	SPNS1	16	28992797	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	4888671	28992797	61361956	53	5912											
SETD1A	9739	broad.mit.edu	37	16	30970183	30970183	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:30970183G>A	uc002ead.1	+	1	817	c.131G>A	c.(130-132)gGa>gAa	p.G44E	SETD1A_uc002eae.1_Missense_Mutation_p.G44E	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCTATGATGGAGTCCACTTC	0.597													A	30970183	G	A	30970183	3	1	90	1	0	0	0	0	1	0	0	0	14130	1174	41	3	133	3	SETD1A	16	30970183	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	1977386	30970183	59384570	54	5913											
ZPBP2	124626	broad.mit.edu	37	17	38027064	38027064	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:38027064C>T	uc002hte.3	+	2	389	c.236C>T	c.(235-237)aCg>aTg	p.T79M	ZPBP2_uc002htf.3_Missense_Mutation_p.T57M	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	79					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATGAAAAGACGTTAACAGGT	0.284													T	38027064	C	T	38027064	3	4	90	1	0	0	0	0	1	0	0	0	18217	536	19	1	246	1	ZPBP2	17	38027064	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		38027064	43168146	55	5914											
AKAP1	8165	broad.mit.edu	37	17	55189944	55189944	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:55189944T>A	uc010wnl.2	+	5	2350	c.2068T>A	c.(2068-2070)Tca>Aca	p.S690T	AKAP1_uc002iux.3_Missense_Mutation_p.S690T|AKAP1_uc021uak.1_Missense_Mutation_p.S690T|AKAP1_uc010dcm.3_Missense_Mutation_p.S690T|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	690					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCATTGCCTTCACTGGCACT	0.502													A	55189944	T	A	55189944	3	1	90	1	0	0	0	0	1	0	0	0	445	1783	62	5	2082	5	AKAP1	17	55189944	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	17162880	55189944	26005266	56	5915											
MPO	4353	broad.mit.edu	37	17	56352985	56352985	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:56352985G>C	uc002ivu.1	-	7	1460	c.1283C>G	c.(1282-1284)aCa>aGa	p.T428R		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	428					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CTTGAGCTCTGTGGCCAGCCG	0.617													C	56352985	G	C	56352985	3	2	90	1	0	0	0	0	1	0	0	0	9732	1377	48	5	974	5	MPO	17	56352985	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	1163041	56352985	24842225	57	5916											
LRP3	4037	broad.mit.edu	37	19	33696170	33696170	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:33696170C>G	uc010edh.3	+	4	587	c.494C>G	c.(493-495)tCc>tGc	p.S165C	LRP3_uc010xrp.1_Missense_Mutation_p.S39C|LRP3_uc002nuk.4_Missense_Mutation_p.S39C	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	165	LDL-receptor class A 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCCAGGCATCCTGCCAGGCA	0.662													G	33696170	C	G	33696170	3	3	90	1	0	0	0	0	1	0	0	0	8958	855	30	5	512	5	LRP3	19	33696170	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		33696170	25432813	58	5917											
NCR1	9437	broad.mit.edu	37	19	55420766	55420766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:55420766C>T	uc002qib.2	+	3	556	c.518C>T	c.(517-519)gCg>gTg	p.A173V	NCR1_uc002qic.2_Missense_Mutation_p.A173V|NCR1_uc002qie.2_Missense_Mutation_p.A173V|NCR1_uc002qid.2_Missense_Mutation_p.A78V|NCR1_uc002qif.2_Missense_Mutation_p.A78V|NCR1_uc010esj.2_Missense_Mutation_p.A66V	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	173	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	p.A173V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AAGGTCCAGGCGGAGTTCCCC	0.572													T	55420766	C	T	55420766	3	4	90	1	0	0	0	0	1	0	0	0	10237	768	27	1	532	1	NCR1	19	55420766	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	21724596	55420766	3708217	59	5918											
HM13	81502	broad.mit.edu	37	20	30136902	30136902	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr20:30136902G>T	uc002wwc.3	+	4	639	c.525G>T	c.(523-525)tgG>tgT	p.W175C	HM13_uc002wwd.3_Missense_Mutation_p.W175C|HM13_uc002wwe.3_Missense_Mutation_p.W175C|HM13_uc002wwf.3_Missense_Mutation_p.W51C	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	175					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	p.V174I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TTGGCGTCTGGTACCTGCTGA	0.577													T	30136902	G	T	30136902	3	4	90	1	0	0	0	0	1	0	0	0	7217	1270	44	5	610	5	HM13	20	30136902	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		30136902	32888618	60	5919											
HUNK	30811	broad.mit.edu	37	21	33296873	33296873	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr21:33296873C>T	uc002yph.3	+	1	715	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	119	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCAGATGATCCGCCACCCCAA	0.488													T	33296873	C	T	33296873	3	4	90	1	0	0	0	0	1	0	0	0	7458	652	23	2	361	2	HUNK	21	33296873	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		33296873	14833022	61	5920											
LZTR1	8216	broad.mit.edu	37	22	21344765	21344765	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:21344765G>A	uc002zto.3	+	7	845	c.742G>A	c.(742-744)Gga>Aga	p.G248R	LZTR1_uc002ztn.3_Missense_Mutation_p.G207R|LZTR1_uc011ahy.2_Missense_Mutation_p.G229R|LZTR1_uc010gsr.1_Missense_Mutation_p.G119R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	248					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G248R(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGCAAAGCGGAGCCAAAAT	0.562													A	21344765	G	A	21344765	3	1	90	1	0	0	0	0	1	0	0	0	9137	1117	39	2	772	2	LZTR1	22	21344765	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		21344765	29959801	62	5921											
DEPDC5	9681	broad.mit.edu	37	22	32198714	32198715	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:32198714_32198715insC	uc011alu.2	+	14	1173_1174	c.971_972insC	c.(970-972)cgcfs	p.R324fs	DEPDC5_uc011als.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003als.3_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003alr.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alt.2_Frame_Shift_Ins_p.R296fs	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	324					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TACATCAACCGCAACTTTGACC	0.46													C	32198715	-	C	32198714	7	5	90	1	0	1	1	0	0	0	0	0	4442	1087	38	0	1025	0	DEPDC5	22	32198714	Frame_Shift_Ins	INS	-	TCGA-06-5413-01A-01D-1696-08	10853949	32198714	19105852	63	5922											
SBF1	6305	broad.mit.edu	37	22	50895482	50895483	+	In_Frame_Ins	INS	-	-	GAGGCC			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:50895482_50895483insGAGGCC	uc003blh.3	-	28	4079_4080	c.3884_3885insGGCCTC	c.(3883-3885)tcc>tcGGCCTCc	p.1295_1295S>SAS	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Intron	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1275	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGGTCCGTCTGGAGGCCGAGGC	0.678													GAGGCC	50895483	-	GAGGCC	50895482	7	5	90	1	0	1	1	0	0	0	0	0	13858	1335	47	0	1848	0	SBF1	22	50895482	In_Frame_Ins	INS	-	TCGA-06-5413-01A-01D-1696-08	18696768	50895482	409084	64	5923											
CYP4B1	1580	broad.mit.edu	37	1	47278284	47278284	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:47278284C>T	uc001cqn.4	+	3	568	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.R162C|CYP4B1_uc009vym.3_Missense_Mutation_p.R147C|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	162					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGAGTCTACACGTATCATGCT	0.567													T	47278284	C	T	47278284	3	4	91	1	0	0	0	0	1	0	0	0	4185	536	19	1	498	1	CYP4B1	1	47278284	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		47278284	201972337	1	5924											
HRNR	388697	broad.mit.edu	37	1	152187706	152187706	+	Silent	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:152187706G>A	uc001ezt.1	-	2	6475	c.6399C>T	c.(6397-6399)taC>taT	p.Y2133Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2133					keratinization		calcium ion binding|protein binding	p.Y2133*(2)|p.Y2133Y(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGTCCGTAGCCAGAGG	0.567													A	152187706	G	A	152187706	2	1	91	1	0	0	0	0	0	0	0	1	7359	1140	40	1		1	HRNR	1	152187706	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	104909422	152187706	97062915	2	5925											
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:153362715T>C	uc001fbs.3	-	2	316	c.146A>G	c.(145-147)aAg>aGg	p.K49R		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	49	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	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)			GTCTGCACCCTTTTTCTGTCA	0.507													C	153362715	T	C	153362715	3	2	91	1	0	0	0	0	1	0	0	0	13786	1609	56	4	139	4	S100A8	1	153362715	Missense_Mutation	SNP	T	TCGA-06-5414-01A-01D-1486-08	1175009	153362715	95887906	3	5926											
CYTIP	9595	broad.mit.edu	37	2	158300464	158300464	+	Silent	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:158300464C>T	uc002tzj.1	-	0	141	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	23					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AAGAGCTATACGCTGGCCCAG	0.512													T	158300464	C	T	158300464	2	4	91	1	0	0	0	0	0	0	0	1	4207	523	19	1		1	CYTIP	2	158300464	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08		158300464	84898909	4	5927											
SGOL2	151246	broad.mit.edu	37	2	201434569	201434569	+	Silent	SNP	A	A	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:201434569A>G	uc002uvw.2	+	5	770	c.657A>G	c.(655-657)ttA>ttG	p.L219L	SGOL2_uc002uvv.4_Silent_p.L219L|SGOL2_uc010zhd.1_Silent_p.L219L|SGOL2_uc010zhe.1_Silent_p.L219L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	219					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TATATGGTTTAGATGATTCAG	0.303													G	201434569	A	G	201434569	2	3	91	1	0	0	0	0	0	0	0	1	14217	417	15	4		4	SGOL2	2	201434569	Silent	SNP	A	TCGA-06-5414-01A-01D-1486-08	43134105	201434569	41764804	5	5928											
COL4A3	1285	broad.mit.edu	37	2	228118844	228118844	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:228118844A>G	uc002vom.2	+	13	944	c.782A>G	c.(781-783)aAg>aGg	p.K261R	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	261	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGGGGAAAAGGGAGACAAG	0.433													G	228118844	A	G	228118844	3	3	91	1	0	0	0	0	1	0	0	0	3691	72	3	4	836	4	COL4A3	2	228118844	Missense_Mutation	SNP	A	TCGA-06-5414-01A-01D-1486-08	26684275	228118844	15080529	6	5929											
SPHKAP	80309	broad.mit.edu	37	2	228884217	228884217	+	Silent	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:228884217G>A	uc002vpq.2	-	6	1400	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_uc002vpp.2_Silent_p.V451V|SPHKAP_uc010zlx.1_Silent_p.V451V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	451						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGAACAACGACGATTTTGG	0.507													A	228884217	G	A	228884217	2	1	91	1	0	0	0	0	0	0	0	1	15047	1045	37	2		2	SPHKAP	2	228884217	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	765373	228884217	14315156	7	5930											
DPPA4	55211	broad.mit.edu	37	3	109050752	109050752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr3:109050752C>T	uc003dxq.4	-	2	360	c.305G>A	c.(304-306)tGg>tAg	p.W102*	DPPA4_uc011bho.2_Nonsense_Mutation_p.W102*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.W102*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	102						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGTTGGCACCAGGCCCGCAG	0.532													T	109050752	C	T	109050752	4	4	91	1	0	0	0	0	0	1	0	0	4736	595	21	3	629	3	DPPA4	3	109050752	Nonsense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		109050752	88971678	8	5931											
FNDC3B	64778	broad.mit.edu	37	3	172096080	172096080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr3:172096080G>A	uc003fhy.3	+	23	3201	c.3029G>A	c.(3028-3030)gGa>gAa	p.G1010E	FNDC3B_uc003fhz.4_Missense_Mutation_p.G1010E	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	1010	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				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)		ATCTACAGAGGACCCAGCCAC	0.448													A	172096080	G	A	172096080	3	1	91	1	0	0	0	0	1	0	0	0	5970	1174	41	3	3119	3	FNDC3B	3	172096080	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	63045328	172096080	25926350	9	5932											
CPZ	8532	broad.mit.edu	37	4	8621243	8621243	+	Missense_Mutation	SNP	C	C	T	rs143690050		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:8621243C>T	uc003glm.3	+	10	2032	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R609W|CPZ_uc003gln.3_Missense_Mutation_p.R483W	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	620					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.R620L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGACCCGCTCCGGGCGCGCAG	0.667													T	8621243	C	T	8621243	3	4	91	1	0	0	0	0	1	0	0	0	3839	643	23	2	1900	2	CPZ	4	8621243	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		8621243	182533033	10	5933											
ADH1C	126	broad.mit.edu	37	4	100268910	100268910	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:100268910G>A	uc021xqi.1	-	1		c.197C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACCTTAATGCGAACTTCATGA	0.338													A	100268910	G	A	100268910	3	1	91	1	0	0	0	0	1	0	0	0	309	1058	37	2	1047	2	ADH1C	4	100268910	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	91647667	100268910	90885366	11	5934											
LRBA	987	broad.mit.edu	37	4	151791721	151791725	+	Frame_Shift_Del	DEL	TTATG	TTATG	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:151791721_151791725delTTATG	uc010ipj.3	-	19	2645_2649	c.2401_2405delCATAA	c.(2401-2406)cataaafs	p.H801fs	LRBA_uc003ilu.4_Frame_Shift_Del_p.H801fs	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	801						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.I800V(1)		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)					TGGATGCTGTTTATGTATCACCTGA	0.312													-	151791725	TTATG	-	151791721	7	5	91	1	0	1	0	1	0	0	0	0	8931	1841	64	0	6342	0	LRBA	4	151791721	Frame_Shift_Del	DEL	TTATG	TCGA-06-5414-01A-01D-1486-08	51522811	151791721	39362555	12	5935											
DCHS2	54798	broad.mit.edu	37	4	155249289	155249289	+	Missense_Mutation	SNP	G	G	A	rs111557030	byFrequency	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:155249289G>A	uc003inw.2	-	11	2609	c.2609C>T	c.(2608-2610)cCt>cTt	p.P870L	DCHS2_uc003inx.2_Missense_Mutation_p.P1325L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	870	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P870H(2)|p.P1325H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTTCATCAGGATCCTTTGC	0.348													A	155249289	G	A	155249289	3	1	91	1	0	0	0	0	1	0	0	0	4288	1000	35	3	6293	3	DCHS2	4	155249289	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	3457568	155249289	35904987	13	5936											
ADAMTS16	170690	broad.mit.edu	37	5	5146447	5146447	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:5146447C>T	uc003jdl.3	+	2	518	c.380C>T	c.(379-381)aCg>aTg	p.T127M	ADAMTS16_uc003jdk.1_Missense_Mutation_p.T127M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T127M	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	127					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q126*(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						ATTGTGCAGACGTTGGGAAAG	0.522													T	5146447	C	T	5146447	3	4	91	1	0	0	0	0	1	0	0	0	261	536	19	1	390	1	ADAMTS16	5	5146447	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		5146447	175768813	14	5937											
ADAMTS16	170690	broad.mit.edu	37	5	5190212	5190212	+	Silent	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:5190212T>C	uc003jdl.3	+	6	1314	c.1176T>C	c.(1174-1176)tgT>tgC	p.C392C	ADAMTS16_uc003jdk.1_Silent_p.C392C|ADAMTS16_uc003jdj.1_Silent_p.C392C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	392	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TGGATATATGTTCCTGGAAGA	0.527													C	5190212	T	C	5190212	2	2	91	1	0	0	0	0	0	0	0	1	261	1731	60	4		4	ADAMTS16	5	5190212	Silent	SNP	T	TCGA-06-5414-01A-01D-1486-08	43765	5190212	175725048	15	5938											
RASGRF2	5924	broad.mit.edu	37	5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:80408515C>T	uc003kha.2	+	13	1975	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	642	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCGTTATGCCAGCGTGGAG	0.483													T	80408515	C	T	80408515	3	4	91	1	0	0	0	0	1	0	0	0	13073	739	26	3	1979	3	RASGRF2	5	80408515	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	75218303	80408515	100506745	16	5939											
PCDHGC5	56103	broad.mit.edu	37	5	140741338	140741338	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:140741338G>A	uc003ljs.2	+	0	1636	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.V546M|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	548	Cadherin 5.				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)			CAGCGCCAACGTGAGCCTGCG	0.682													A	140741338	G	A	140741338	3	1	91	1	0	0	0	0	1	0	0	0	11571	1145	40	1		1	PCDHGC5	5	140741338	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	60332823	140741338	40173922	17	5940											
TIMD4	91937	broad.mit.edu	37	5	156346519	156346519	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:156346519G>T	uc003lwh.2	-	8	1143	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L	TIMD4_uc010jii.2_Silent_p.L334L|TIMD4_uc003lwg.2_Silent_p.L64L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	362						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCACGTCATTGAGGACATTTT	0.438													T	156346519	G	T	156346519	2	4	91	1	0	0	0	0	0	0	0	1	15900	1277	45	5		5	TIMD4	5	156346519	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	15605181	156346519	24568741	18	5941											
GABRA6	2559	broad.mit.edu	37	5	161116076	161116076	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:161116076C>A	uc003lyu.2	+	3	685	c.347C>A	c.(346-348)aCc>aAc	p.T116N	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	116					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACGCCTGACACCTTTTTCAGA	0.418										TCGA Ovarian(5;0.080)			A	161116076	C	A	161116076	3	1	91	1	0	0	0	0	1	0	0	0	6165	507	18	5	361	5	GABRA6	5	161116076	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	4769557	161116076	19799184	19	5942											
TMEM63B	55362	broad.mit.edu	37	6	44107303	44107303	+	Silent	SNP	C	C	T	rs145356402		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr6:44107303C>T	uc003owr.3	+	6	571	c.507C>T	c.(505-507)tcC>tcT	p.S169S	TMEM63B_uc003owq.1_Silent_p.S169S|TMEM63B_uc010jyy.1_Silent_p.S72S|TMEM63B_uc003ows.3_Silent_p.S72S|TMEM63B_uc010jyz.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	169						integral to membrane	nucleotide binding|protein binding	p.S169S(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCGTCCTCTCCGTAGGCATCG	0.627													T	44107303	C	T	44107303	2	4	91	1	0	0	0	0	0	0	0	1	16188	639	23	2		2	TMEM63B	6	44107303	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08		44107303	127007764	20	5943											
VNN2	8875	broad.mit.edu	37	6	133078573	133078573	+	Missense_Mutation	SNP	G	G	A	rs149351884		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr6:133078573G>A	uc003qdt.3	-	1	337	c.326C>T	c.(325-327)cCg>cTg	p.P109L	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.P109L|VNN2_uc003qdv.3_Missense_Mutation_p.P56L	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	109	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTCTTGACACGGAATCCAGTT	0.418													A	133078573	G	A	133078573	3	1	91	1	0	0	0	0	1	0	0	0	17180	1116	39	2	1260	2	VNN2	6	133078573	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	88971270	133078573	38036494	21	5944											
GRM3	2913	broad.mit.edu	37	7	86468833	86468833	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:86468833G>A	uc003uid.3	+	3	3102	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.R540H|GRM3_uc010leh.3_Missense_Mutation_p.R260H	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	668					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCATTGCCCGCATCTTCGAT	0.537													A	86468833	G	A	86468833	3	1	91	1	0	0	0	0	1	0	0	0	6798	1087	38	1	2013	1	GRM3	7	86468833	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		86468833	72669830	22	5945											
ZKSCAN5	23660	broad.mit.edu	37	7	99123821	99123821	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:99123821G>T	uc003uqv.3	+	5	1282	c.1158G>T	c.(1156-1158)cgG>cgT	p.R386R	ZKSCAN5_uc010lfx.3_Silent_p.R386R|ZKSCAN5_uc003uqw.3_Silent_p.R386R|ZKSCAN5_uc003uqx.3_Silent_p.R313R|ZKSCAN5_uc003uqy.3_Silent_p.R122R	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	386					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACAATCAGCGGGTGCACCTCA	0.537													T	99123821	G	T	99123821	2	4	91	1	0	0	0	0	0	0	0	1	17687	1219	43	5		5	ZKSCAN5	7	99123821	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	12654988	99123821	60014842	23	5946											
KEL	3792	broad.mit.edu	37	7	142658590	142658590	+	Splice_Site	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:142658590T>C	uc003wcb.3	-	3	292	c.82_splice	c.e3-1	p.S28_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	28					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)					TGGAGTGCTCTGTGGGAGGAA	0.552													C	142658590	T	C	142658590	5	2	91	1	0	0	0	0	0	0	1	0	8142	1594	55	4	2186	4	KEL	7	142658590	Splice_Site	SNP	T	TCGA-06-5414-01A-01D-1486-08	43534769	142658590	16480073	24	5947											
DLC1	10395	broad.mit.edu	37	8	12956045	12956045	+	Silent	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:12956045C>T	uc003wwm.2	-	9	3474	c.3030G>A	c.(3028-3030)cgG>cgA	p.R1010R	DLC1_uc003wwk.1_Silent_p.R573R|DLC1_uc003wwl.1_Silent_p.R607R|DLC1_uc011kxx.1_Silent_p.R499R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1010					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGAGGCTTGGCCGATGTGAGC	0.468													T	12956045	C	T	12956045	2	4	91	1	0	0	0	0	0	0	0	1	4550	726	26	3		3	DLC1	8	12956045	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08		12956045	133407977	25	5948											
TUSC3	7991	broad.mit.edu	37	8	15519787	15519787	+	Silent	SNP	T	T	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:15519787T>G	uc003wwt.3	+	4	1034	c.690T>G	c.(688-690)ggT>ggG	p.G230G	TUSC3_uc003wwu.3_Silent_p.G230G	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	230					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		ACAAGACTGGTTGGGCCATGG	0.368													G	15519787	T	G	15519787	2	3	91	1	0	0	0	0	0	0	0	1	16775	1712	60	5		5	TUSC3	8	15519787	Silent	SNP	T	TCGA-06-5414-01A-01D-1486-08	2563742	15519787	130844235	26	5949											
SFTPC	6440	broad.mit.edu	37	8	22020183	22020183	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:22020183G>A	uc003xaw.4	+	4	989	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	SFTPC_uc003xax.4_Missense_Mutation_p.V47I|SFTPC_uc003xay.4_Missense_Mutation_p.V47I|SFTPC_uc003xaz.3_Missense_Mutation_p.V47I|SFTPC_uc011kza.1_Missense_Mutation_p.V47I|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	47	BRICHOS.				respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTCCTCATCGTCGTGGTGAT	0.597													A	22020183	G	A	22020183	3	1	91	1	0	0	0	0	1	0	0	0	14192	1145	40	1	145	1	SFTPC	8	22020183	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	6500396	22020183	124343839	27	5950											
PHYHIP	9796	broad.mit.edu	37	8	22079267	22079267	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:22079267C>G	uc003xbk.4	-	5	1286	c.592G>C	c.(592-594)Gac>Cac	p.D198H	PHYHIP_uc003xbj.4_Missense_Mutation_p.D198H	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	198										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TAGGGGGAGTCCTGCGGGGGC	0.627													G	22079267	C	G	22079267	3	3	91	1	0	0	0	0	1	0	0	0	11866	855	30	5	404	5	PHYHIP	8	22079267	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	59084	22079267	124284755	28	5951											
PCMTD1	115294	broad.mit.edu	37	8	52733107	52733107	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:52733107T>C	uc003xqx.4	-	5	1219	c.878A>G	c.(877-879)aAt>aGt	p.N293S	PCMTD1_uc011ldm.2_Missense_Mutation_p.N163S|PCMTD1_uc011ldn.2_Missense_Mutation_p.N105S|PCMTD1_uc010lya.3_Missense_Mutation_p.N217S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	293						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATAAGCTGATTACCCACAAA	0.408													C	52733107	T	C	52733107	3	2	91	1	0	0	0	0	1	0	0	0	11586	1493	52	4	199	4	PCMTD1	8	52733107	Missense_Mutation	SNP	T	TCGA-06-5414-01A-01D-1486-08	30653840	52733107	93630915	29	5952											
KCNB2	9312	broad.mit.edu	37	8	73848231	73848231	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:73848231C>T	uc003xzb.3	+	2	1229	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	214					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCTCTCAATACGCTGCCGGAG	0.478													T	73848231	C	T	73848231	3	4	91	1	0	0	0	0	1	0	0	0	8013	536	19	1	647	1	KCNB2	8	73848231	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	21115124	73848231	72515791	30	5953											
KCNK18	338567	broad.mit.edu	37	10	118969028	118969028	+	Missense_Mutation	SNP	G	G	A	rs141958329		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr10:118969028G>A	uc010qsr.2	+	2	373	c.373G>A	c.(373-375)Gtc>Atc	p.V125I		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	125						integral to membrane|plasma membrane				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)		CATCTACCCCGTCACCAGGCT	0.507													A	118969028	G	A	118969028	3	1	91	1	0	0	0	0	1	0	0	0	8065	1145	40	1	383	1	KCNK18	10	118969028	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		118969028	16565719	31	5954											
ZNF215	7762	broad.mit.edu	37	11	6964441	6964441	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:6964441G>A	uc001mey.3	+	4	1199	c.611G>A	c.(610-612)cGt>cAt	p.R204H	ZNF215_uc010raw.2_Intron|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.R204H	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	204	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AATTCATTGCGTAAAGGTGGT	0.418													A	6964441	G	A	6964441	3	1	91	1	0	0	0	0	1	0	0	0	17768	1145	40	1	621	1	ZNF215	11	6964441	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		6964441	128042075	32	5955											
OLFML1	283298	broad.mit.edu	37	11	7509544	7509544	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:7509544C>T	uc001mfi.3	+	1	823	c.316C>T	c.(316-318)Cga>Tga	p.R106*	BC040358_uc001mff.1_Intron|OLFML1_uc010raz.2_Intron|OLFML1_uc010rba.2_Nonsense_Mutation_p.R106*	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	106						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACAATACCTTCGAGAGGCTGA	0.478													T	7509544	C	T	7509544	4	4	91	1	0	0	0	0	0	1	0	0	10856	876	31	2	322	2	OLFML1	11	7509544	Nonsense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	545103	7509544	127496972	33	5956											
OR4P4	81300	broad.mit.edu	37	11	55406751	55406751	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:55406751G>T	uc010rij.2	+	0	918	c.918G>T	c.(916-918)ctG>ctT	p.L306L		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L306L(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAATACTCCTGAAAAGAAATC	0.398													T	55406751	G	T	55406751	2	4	91	1	0	0	0	0	0	0	0	1	11080	1277	45	5		5	OR4P4	11	55406751	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	47897207	55406751	79599765	34	5957											
LRRC55	219527	broad.mit.edu	37	11	56950136	56950136	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:56950136C>T	uc001njl.2	+	0	916	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	227	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCTGCGAAACCGGATCCAGCG	0.617													T	56950136	C	T	56950136	3	4	91	1	0	0	0	0	1	0	0	0	9011	643	23	2	771	2	LRRC55	11	56950136	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	1543385	56950136	78056380	35	5958											
LRP5	4041	broad.mit.edu	37	11	68206026	68206026	+	Silent	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:68206026G>A	uc001ont.3	+	19	4299	c.4224G>A	c.(4222-4224)caG>caA	p.Q1408Q	LRP5_uc009ysg.3_Silent_p.Q818Q	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1408					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGTGTGCCAGCGCGTGGTGT	0.652													A	68206026	G	A	68206026	2	1	91	1	0	0	0	0	0	0	0	1	8960	962	34	3		3	LRP5	11	68206026	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	11255890	68206026	66800490	36	5959											
KDELC2	143888	broad.mit.edu	37	11	108350192	108350192	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:108350192C>T	uc001pkj.2	-	5	1195	c.1129G>A	c.(1129-1131)Gtg>Atg	p.V377M	KDELC2_uc001pki.2_Missense_Mutation_p.V321M	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	377						endoplasmic reticulum lumen		p.T376T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAGCAGCCACGGTCCCATCC	0.408													T	108350192	C	T	108350192	3	4	91	1	0	0	0	0	1	0	0	0	8118	536	19	1	406	1	KDELC2	11	108350192	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	40144166	108350192	26656324	37	5960											
USP2	9099	broad.mit.edu	37	11	119229846	119229846	+	Splice_Site	DEL	T	T	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:119229846delT	uc001pwm.4	-	6	1357	c.1062_splice	c.e6-1	p.N354_splice	USP2_uc001pwl.4_Splice_Site_p.N145_splice|USP2_uc001pwn.4_Splice_Site_p.N111_splice	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	354					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCCTGCTGACTGAACCCAAAG	0.527													-	119229846	T	-	119229846	8	5	91	1	0	1	0	1	0	0	1	0	17048	1594	55	0	789	0	USP2	11	119229846	Splice_Site	DEL	T	TCGA-06-5414-01A-01D-1486-08	10879654	119229846	15776670	38	5961											
DIAPH3	81624	broad.mit.edu	37	13	60545255	60545256	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr13:60545255_60545256GA>AT	uc001vht.3	-	15	1908_1909	c.1689_1690TC>AT	c.(1687-1692)cctccc>ccATcc	p.P564S	DIAPH3_uc001vhu.3_Missense_Mutation_p.P301S|DIAPH3_uc001vhv.3_Missense_Mutation_p.P142S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	564	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTTAGAGGGAGGCAAAGGAA	0.495													AT	60545256	GA	AT	60545255	3	1	91	1	0	0	0	0	1	0	0	0	4520	1174	41	3	1963	3	DIAPH3	13	60545255	Missense_Mutation	DNP	GA	TCGA-06-5414-01A-01D-1486-08		60545255	54624623	39	5962											
SLITRK1	114798	broad.mit.edu	37	13	84455310	84455310	+	Silent	SNP	C	C	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr13:84455310C>A	uc001vlk.3	-	0	1219	c.333G>T	c.(331-333)ctG>ctT	p.L111L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	111						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTGATGTGCAGCCTTTTCA	0.433													A	84455310	C	A	84455310	2	1	91	1	0	0	0	0	0	0	0	1	14742	697	25	5		5	SLITRK1	13	84455310	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08	23910055	84455310	30714568	40	5963											
SLC39A9	55334	broad.mit.edu	37	14	69920026	69920026	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr14:69920026G>A	uc001xle.3	+	4	1174	c.472_splice	c.e4+1	p.A158_splice	SLC39A9_uc021rvg.1_Splice_Site_p.A40_splice|SLC39A9_uc021rvh.1_Splice_Site_p.A40_splice|SLC39A9_uc001xlf.4_Splice_Site_p.A158_splice|SLC39A9_uc010aqx.3_Intron|SLC39A9_uc001xlg.4_Splice_Site	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	158					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CCATGCTGCAGGTAGGGTTGG	0.463													A	69920026	G	A	69920026	3	1	91	1	0	0	0	0	1	0	0	0	14625	1014	35	3	486	3	SLC39A9	14	69920026	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		69920026	37429514	41	5964											
TCF12	6938	broad.mit.edu	37	15	57524624	57524624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr15:57524624delG	uc002aec.3	+	9	1105	c.821delG	c.(820-822)cgcfs	p.R274fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.R326fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.R270fs|TCF12_uc002aea.3_Frame_Shift_Del_p.R274fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.R274fs|TCF12_uc002aed.3_Frame_Shift_Del_p.R274fs|TCF12_uc010ugo.2_Intron|TCF12_uc002aee.3_Frame_Shift_Del_p.R104fs|TCF12_uc010bft.3_Frame_Shift_Del_p.R104fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	274					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCACATGACCGCTTGGTAGGC	0.443			T	TEC	extraskeletal myxoid chondrosarcoma								-	57524624	G	-	57524624	7	5	91	1	0	1	0	1	0	0	0	0	15684	1087	38	0	928	0	TCF12	15	57524624	Frame_Shift_Del	DEL	G	TCGA-06-5414-01A-01D-1486-08		57524624	45006768	42	5965											
KRT13	3860	broad.mit.edu	37	17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr17:39659673G>A	uc002hwu.1	-	2	664	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_uc002hwv.1_Missense_Mutation_p.R201C|KRT13_uc010wfr.2_Missense_Mutation_p.R94C|KRT13_uc010cxo.3_Missense_Mutation_p.R201C|KRT13_uc021txk.1_Missense_Mutation_p.R94C	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R201H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483													A	39659673	G	A	39659673	3	1	91	1	0	0	0	0	1	0	0	0	8450	1087	38	1	799	1	KRT13	17	39659673	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		39659673	41535537	43	5966											
CNDP2	55748	broad.mit.edu	37	18	72178127	72178127	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr18:72178127C>T	uc002llm.2	+	5	795	c.536C>T	c.(535-537)gCc>gTc	p.A179V	CNDP2_uc002lln.2_Missense_Mutation_p.A95V	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	179						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGATTTTTGCCCGGAAAGAC	0.527													T	72178127	C	T	72178127	3	4	91	1	0	0	0	0	1	0	0	0	3594	739	26	3	554	3	CNDP2	18	72178127	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		72178127	5899121	44	5967											
ATG4D	84971	broad.mit.edu	37	19	10657548	10657548	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:10657548C>T	uc002mov.3	+	3	647	c.527C>T	c.(526-528)cCc>cTc	p.P176L	ATG4D_uc010xlg.2_Missense_Mutation_p.P199L|ATG4D_uc010xlh.2_Missense_Mutation_p.P113L|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Intron|ATG4D_uc010dxj.3_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	176					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCCTGGGCCCCCCTGAGCTG	0.657													T	10657548	C	T	10657548	3	4	91	1	0	0	0	0	1	0	0	0	1099	623	22	3	541	3	ATG4D	19	10657548	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		10657548	48471435	45	5968											
NWD1	284434	broad.mit.edu	37	19	16883984	16883984	+	Missense_Mutation	SNP	G	G	A	rs139109286	by1000genomes	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:16883984G>A	uc002neu.4	+	10	2880	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	NWD1_uc002net.4_Missense_Mutation_p.A685T|NWD1_uc002nev.4_Missense_Mutation_p.A614T|NWD1_uc021uqg.1_Missense_Mutation_p.A685T	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	820							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCATTTCTTCGCCACCTCACA	0.577													A	16883984	G	A	16883984	3	1	91	1	0	0	0	0	1	0	0	0	10781	1087	38	1	2079	1	NWD1	19	16883984	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	6226436	16883984	42244999	46	5969											
MEGF8	1954	broad.mit.edu	37	19	42879827	42879827	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:42879827G>A	uc002otl.4	+	40	7872	c.7237G>A	c.(7237-7239)Gtg>Atg	p.V2413M	MEGF8_uc002otm.4_Missense_Mutation_p.V2021M|MEGF8_uc002otn.4_Missense_Mutation_p.V74M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2480	Laminin EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTCTTTGGCGTGCAGCCCAA	0.637													A	42879827	G	A	42879827	3	1	91	1	0	0	0	0	1	0	0	0	9463	1145	40	1	7399	1	MEGF8	19	42879827	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	25995843	42879827	16249156	47	5970											
ZNF665	79788	broad.mit.edu	37	19	53668521	53668521	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:53668521C>T	uc010eqm.1	-	3	1322	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V408I(1)|p.V343I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAACCTTGACGCATTCATTA	0.398													T	53668521	C	T	53668521	3	4	91	1	0	0	0	0	1	0	0	0	18070	536	19	1	818	1	ZNF665	19	53668521	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	10788694	53668521	5460462	48	5971											
HCK	3055	broad.mit.edu	37	20	30674471	30674471	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr20:30674471G>A	uc002wxh.3	+	8	1113	c.876G>A	c.(874-876)atG>atA	p.M292I	HCK_uc010gdy.3_Missense_Mutation_p.M272I|HCK_uc021wbv.1_Missense_Mutation_p.M271I|HCK_uc002wxi.3_Missense_Mutation_p.M270I	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	292	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGAAGACGATGAAGCCAGGGA	0.577													A	30674471	G	A	30674471	3	1	91	1	0	0	0	0	1	0	0	0	6994	1290	45	3	916	3	HCK	20	30674471	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		30674471	32351049	49	5972											
PPARA	5465	broad.mit.edu	37	22	46594404	46594404	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr22:46594404G>A	uc003bhb.1	+	1	247	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	PPARA_uc003bgw.1_Missense_Mutation_p.G42S|PPARA_uc003bgx.1_Missense_Mutation_p.G42S|PPARA_uc010hab.1_Missense_Mutation_p.G42S|PPARA_uc003bgy.1_Non-coding_Transcript|PPARA_uc003bgz.1_Non-coding_Transcript|PPARA_uc003bha.3_Missense_Mutation_p.G42S|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	42					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GCAATCCATCGGCGAGGATAG	0.527													A	46594404	G	A	46594404	3	1	91	1	0	0	0	0	1	0	0	0	12297	1116	39	2	126	2	PPARA	22	46594404	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		46594404	4710162	50	5973											
CNKSR2	22866	broad.mit.edu	37	X	21508621	21508621	+	Silent	SNP	G	G	T			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chrX:21508621G>T	uc004czx.2	+	5	1086	c.606G>T	c.(604-606)tcG>tcT	p.S202S	CNKSR2_uc004czw.3_Silent_p.S202S|CNKSR2_uc011mjn.2_Silent_p.S202S|CNKSR2_uc011mjo.2_Silent_p.S202S	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	202					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TATCCCTGTCGTCAGATCCTC	0.398													T	21508621	G	T	21508621	2	4	91	1	0	0	0	0	0	0	0	1	3607	1132	40	5		5	CNKSR2	23	21508621	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08		21508621	133761939	51	5974											
MIB2	142678	broad.mit.edu	37	1	1563750	1563750	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:1563750C>T	uc001agg.3	+	14	2329	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	MIB2_uc001agh.3_Missense_Mutation_p.R748C|MIB2_uc001agi.3_Missense_Mutation_p.R758C|MIB2_uc001agj.3_Missense_Mutation_p.R546C|MIB2_uc001agk.3_Missense_Mutation_p.R697C|MIB2_uc001agl.2_Missense_Mutation_p.R661C|MIB2_uc001agm.3_Missense_Mutation_p.R582C|MIB2_uc010nyq.2_Missense_Mutation_p.R661C|MIB2_uc009vkh.3_Missense_Mutation_p.R511C|MIB2_uc001agn.3_Missense_Mutation_p.R337C|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	705					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAACAACCACCGCGAGGTGGC	0.692													T	1563750	C	T	1563750	3	4	92	1	0	0	0	0	1	0	0	0	9567	652	23	2	2342	2	MIB2	1	1563750	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		1563750	247686871	1	5975											
PLEKHG5	57449	broad.mit.edu	37	1	6537601	6537601	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:6537601G>C	uc001anp.1	-	2	760	c.262C>G	c.(262-264)Ctt>Gtt	p.L88V	PLEKHG5_uc001ann.1_Missense_Mutation_p.L48V|PLEKHG5_uc001ano.1_Missense_Mutation_p.L67V|PLEKHG5_uc001anq.1_Missense_Mutation_p.L88V|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.L80V|PLEKHG5_uc001ank.1_Missense_Mutation_p.L11V|PLEKHG5_uc009vmb.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anl.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anm.1_Missense_Mutation_p.L11V	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	67					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGGGGGAAGGTCGAAGCGG	0.617													C	6537601	G	C	6537601	3	2	92	1	0	0	0	0	1	0	0	0	12073	1000	35	5	3069	5	PLEKHG5	1	6537601	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	4973851	6537601	242713020	2	5976											
CD53	963	broad.mit.edu	37	1	111435024	111435024	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:111435024G>A	uc001dzw.3	+	3	292	c.121G>A	c.(121-123)Gga>Aga	p.G41R	CD53_uc001dzx.3_Missense_Mutation_p.G41R|CD53_uc010owa.2_Missense_Mutation_p.G41R	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	41					signal transduction	integral to membrane|plasma membrane		p.F40F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CAACAACTTCGGAGTGCTCTT	0.507													A	111435024	G	A	111435024	3	1	92	1	0	0	0	0	1	0	0	0	3023	1117	39	2	127	2	CD53	1	111435024	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	104897423	111435024	137815597	3	5977											
HSD3B2	3284	broad.mit.edu	37	1	119985580	119985580	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:119985580C>T	uc001ehu.3	+	3	559	c.387C>T	c.(385-387)gaC>gaT	p.D129D				P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.	0			G -> R (in AH2; nonsalt-wasting form).		androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CCTGCCAGGACGTGTCGGTCG	0.507													T	119985580	C	T	119985580	2	4	92	1	0	0	0	0	0	0	0	1	7391	551	19	1		1	HSD3B2	1	119985580	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	8550556	119985580	129265041	4	5978											
HRNR	388697	broad.mit.edu	37	1	152188024	152188024	+	Silent	SNP	C	C	G	rs142170860		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:152188024C>G	uc001ezt.1	-	2	6157	c.6081G>C	c.(6079-6081)tcG>tcC	p.S2027S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2027					keratinization		calcium ion binding|protein binding	p.S2027S(4)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.562													G	152188024	C	G	152188024	2	3	92	1	0	0	0	0	0	0	0	1	7359	871	31	5		5	HRNR	1	152188024	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	32202444	152188024	97062597	5	5979											
NUP210L	91181	broad.mit.edu	37	1	154090286	154090286	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:154090286C>T	uc001fdw.3	-	11	1607	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.G512E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	512						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTCACCACTCCTTTCGTGGT	0.433													T	154090286	C	T	154090286	3	4	92	1	0	0	0	0	1	0	0	0	10761	855	30	3	4247	3	NUP210L	1	154090286	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	1902262	154090286	95160335	6	5980											
TIPRL	261726	broad.mit.edu	37	1	168165850	168165850	+	Silent	SNP	C	C	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:168165850C>A	uc001gfg.3	+	4	727	c.582C>A	c.(580-582)atC>atA	p.I194I		NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	194	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GGGTGCTTATCAGAATGAATG	0.323													A	168165850	C	A	168165850	2	1	92	1	0	0	0	0	0	0	0	1	15923	816	29	5		5	TIPRL	1	168165850	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	14075564	168165850	81084771	7	5981											
USH2A	7399	broad.mit.edu	37	1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:215933077C>T	uc001hku.1	-	56	11543	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3719	Fibronectin type-III 22.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)			T	215933077	C	T	215933077	3	4	92	1	0	0	0	0	1	0	0	0	17033	536	19	1	4516	1	USH2A	1	215933077	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	47767227	215933077	33317544	8	5982											
EPHX1	2052	broad.mit.edu	37	1	226027611	226027611	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:226027611C>T	uc001hpk.3	+	5	884	c.804C>T	c.(802-804)ttC>ttT	p.F268F	EPHX1_uc001hpl.3_Silent_p.F268F	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	268					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.R267C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GACAGCGTTTCGGGAGGTTTC	0.552													T	226027611	C	T	226027611	2	4	92	1	0	0	0	0	0	0	0	1	5179	883	31	2		2	EPHX1	1	226027611	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	10094534	226027611	23223010	9	5983											
RYR2	6262	broad.mit.edu	37	1	237838075	237838075	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:237838075G>A	uc001hyl.1	+	59	8879	c.8759G>A	c.(8758-8760)cGa>cAa	p.R2920Q	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2920	4 X approximate repeats.|Modulator (Potential).				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			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)			ATTGAGAAACGATTTGCCTAT	0.423													A	237838075	G	A	237838075	3	1	92	1	0	0	0	0	1	0	0	0	13769	1058	37	2	8997	2	RYR2	1	237838075	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	11810464	237838075	11412546	10	5984											
SNTG2	54221	broad.mit.edu	37	2	1271318	1271318	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:1271318C>T	uc002qwq.3	+	13	1388	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	SNTG2_uc010ewi.3_Missense_Mutation_p.T293M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	420	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAAAGAGCCACGTTCATGGAA	0.527													T	1271318	C	T	1271318	3	4	92	1	0	0	0	0	1	0	0	0	14875	536	19	1	1313	1	SNTG2	2	1271318	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		1271318	241928055	11	5985											
TTN	7273	broad.mit.edu	37	2	179425883	179425883	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:179425883G>A	uc021vsy.1	-	274	77497	c.77272C>T	c.(77272-77274)Cgg>Tgg	p.R25758W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R19453W|TTN_uc021vta.1_Missense_Mutation_p.R19386W|TTN_uc021vtb.1_Missense_Mutation_p.R19261W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26685	Fibronectin type-III 87.						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)			GCAAAAACCCGGAATTCATAA	0.403													A	179425883	G	A	179425883	3	1	92	1	0	0	0	0	1	0	0	0	16732	1115	39	2	23151	2	TTN	2	179425883	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	178154565	179425883	63773490	12	5986											
NMUR1	10316	broad.mit.edu	37	2	232393454	232393454	+	Missense_Mutation	SNP	G	G	A	rs143358901	by1000genomes	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:232393454G>A	uc002vry.4	-	1	388	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	93					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTTGGTAGGCGTGCGCATGGC	0.612													A	232393454	G	A	232393454	3	1	92	1	0	0	0	0	1	0	0	0	10506	1145	40	1	1010	1	NMUR1	2	232393454	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	52967571	232393454	10805919	13	5987											
PTPRG	5793	broad.mit.edu	37	3	62188854	62188854	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr3:62188854C>T	uc003dlb.3	+	11	2104	c.1385C>T	c.(1384-1386)gCg>gTg	p.A462V	PTPRG_uc003dlc.3_Missense_Mutation_p.A462V	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	462					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGCCCACAGCGTCTCCTGCC	0.547													T	62188854	C	T	62188854	3	4	92	1	0	0	0	0	1	0	0	0	12802	768	27	1	1431	1	PTPRG	3	62188854	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		62188854	135833576	14	5988											
STAG1	10274	broad.mit.edu	37	3	136076625	136076625	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr3:136076625delA	uc003era.1	-	27	3294	c.3002delT	c.(3001-3003)ctgfs	p.L1001fs	STAG1_uc003erb.1_Frame_Shift_Del_p.L1001fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	1001					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAGAAAAGCCAGATTAGGAGG	0.333													-	136076625	A	-	136076625	7	5	92	1	0	1	0	1	0	0	0	0	15241	188	7	0	802	0	STAG1	3	136076625	Frame_Shift_Del	DEL	A	TCGA-06-5415-01A-01D-1486-08	73887771	136076625	61945805	15	5989											
BMP3	651	broad.mit.edu	37	4	81952456	81952456	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:81952456G>A	uc003hmg.4	+	0	338	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	6					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGGCGAGCAGGCTGCTCTTTC	0.706													A	81952456	G	A	81952456	2	1	92	1	0	0	0	0	0	0	0	1	1461	1194	42	3		3	BMP3	4	81952456	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		81952456	109201820	16	5990											
MTTP	4547	broad.mit.edu	37	4	100534247	100534247	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:100534247G>A	uc011cej.2	+	14	2261	c.2248G>A	c.(2248-2250)Gac>Aac	p.D750N	MTTP_uc003hvc.4_Missense_Mutation_p.D723N	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	723					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			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)	AGCATCTGGCGACCCTATCAG	0.428													A	100534247	G	A	100534247	3	1	92	1	0	0	0	0	1	0	0	0	9964	1058	37	2	2225	2	MTTP	4	100534247	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	18581791	100534247	90620029	17	5991											
TLL1	7092	broad.mit.edu	37	4	166915601	166915601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:166915601C>T	uc003irh.2	+	3	1077	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TLL1_uc021xud.1_Nonsense_Mutation_p.R144*|TLL1_uc011cjn.2_Nonsense_Mutation_p.R144*|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	144					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGAGAAAAATCGAGTTCCCAG	0.423													T	166915601	C	T	166915601	4	4	92	1	0	0	0	0	0	1	0	0	15942	876	31	2	444	2	TLL1	4	166915601	Nonsense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	66381354	166915601	24238675	18	5992											
PDE8B	8622	broad.mit.edu	37	5	76640735	76640735	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:76640735A>G	uc003kfa.3	+	6	900	c.855A>G	c.(853-855)acA>acG	p.T285T	PDE8B_uc003kfd.3_Silent_p.T285T|PDE8B_uc003kfe.3_Silent_p.T285T|PDE8B_uc003kfb.3_Silent_p.T265T|PDE8B_uc003kfc.3_Silent_p.T285T	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	285	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TAGAAATAACAAGCGATGACC	0.353													G	76640735	A	G	76640735	2	3	92	1	0	0	0	0	0	0	0	1	11654	117	5	4		4	PDE8B	5	76640735	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08		76640735	104274525	19	5993											
RASA1	5921	broad.mit.edu	37	5	86659220	86659220	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:86659220A>G	uc003kiw.3	+	10	1708	c.1509A>G	c.(1507-1509)caA>caG	p.Q503Q	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Silent_p.Q326Q|RASA1_uc011ctv.2_Silent_p.Q336Q|RASA1_uc011ctw.2_Silent_p.Q337Q|RASA1_uc010jaw.3_Silent_p.Q325Q	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	503	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTGATGCCCAACTTATTTATT	0.323													G	86659220	A	G	86659220	2	3	92	1	0	0	0	0	0	0	0	1	13060	40	2	4		4	RASA1	5	86659220	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08	10018485	86659220	94256040	20	5994											
GPR98	84059	broad.mit.edu	37	5	89986845	89986845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:89986845C>T	uc003kju.3	+	30	7034	c.6938C>T	c.(6937-6939)cCg>cTg	p.P2313L	GPR98_uc003kjt.3_Intron|GPR98_uc003kjv.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2313	Calx-beta 16.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACGACGTTCCGGAGATTGAA	0.468													T	89986845	C	T	89986845	3	4	92	1	0	0	0	0	1	0	0	0	6721	652	23	2	7060	2	GPR98	5	89986845	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	3327625	89986845	90928415	21	5995											
TRPC7	57113	broad.mit.edu	37	5	135583350	135583350	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:135583350G>A	uc003lbn.2	-	6	1875	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	TRPC7_uc010jef.2_Silent_p.S487S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.S102S|TRPC7_uc010jeh.2_Silent_p.S490S|TRPC7_uc010jei.2_Silent_p.S435S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	551					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGAGAGAAGCTCAGCACGA	0.502													A	135583350	G	A	135583350	2	1	92	1	0	0	0	0	0	0	0	1	16581	962	34	3		3	TRPC7	5	135583350	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	45596505	135583350	45331910	22	5996											
GABRA1	2554	broad.mit.edu	37	5	161324264	161324264	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:161324264G>A	uc010jiw.3	+	10	1675	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	GABRA1_uc010jix.3_Missense_Mutation_p.E403K|GABRA1_uc010jiy.3_Missense_Mutation_p.E403K|GABRA1_uc003lyx.4_Missense_Mutation_p.E403K|GABRA1_uc010jiz.3_Missense_Mutation_p.E403K|GABRA1_uc010jja.3_Missense_Mutation_p.E403K|GABRA1_uc010jjb.3_Missense_Mutation_p.E403K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	403					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.E403K(2)		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)	GGTCAAGCCCGAAACAAAACC	0.473													A	161324264	G	A	161324264	3	1	92	1	0	0	0	0	1	0	0	0	6160	1059	37	2	1241	2	GABRA1	5	161324264	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	25740914	161324264	19590996	23	5997											
CUL9	23113	broad.mit.edu	37	6	43181519	43181519	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:43181519G>A	uc003ouk.3	+	28	5632	c.5557G>A	c.(5557-5559)Gca>Aca	p.A1853T	CUL9_uc003oul.3_Intron|CUL9_uc010jyk.3_Missense_Mutation_p.A1005T|CUL9_uc003oun.3_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1853				Missing (in Ref. 3; CAH18696).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCTCCCCAGGCATACCTGAA	0.577													A	43181519	G	A	43181519	3	1	92	1	0	0	0	0	1	0	0	0	4061	1203	42	3	5667	3	CUL9	6	43181519	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08		43181519	127933548	24	5998											
CLIC5	53405	broad.mit.edu	37	6	45882070	45882070	+	Silent	SNP	G	G	A	rs146052023		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:45882070G>A	uc003oxv.3	-	4	1066	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CLIC5_uc003oxu.3_Silent_p.D161D|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Silent_p.D161D	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	320	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AAGTGTTGGCGTCAATCTCCT	0.537													A	45882070	G	A	45882070	2	1	92	1	0	0	0	0	0	0	0	1	3529	1136	40	1		1	CLIC5	6	45882070	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	2700551	45882070	125232997	25	5999											
STX7	8417	broad.mit.edu	37	6	132792715	132792715	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:132792715G>A	uc003qdg.2	-	4	524	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron	NM_003569	NP_003560	O15400	STX7_HUMAN	Homo sapiens syntaxin 7 (STX7), mRNA.	92					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCCACTAAGCGATCCTTCTGT	0.453													A	132792715	G	A	132792715	3	1	92	1	0	0	0	0	1	0	0	0	15349	1058	37	2	535	2	STX7	6	132792715	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	86910645	132792715	38322352	26	6000											
PDE1C	5137	broad.mit.edu	37	7	31890345	31890345	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:31890345G>A	uc003tcm.2	-	7	1222	c.761C>T	c.(760-762)aCg>aTg	p.T254M	PDE1C_uc003tcn.1_Missense_Mutation_p.T254M|PDE1C_uc003tco.2_Missense_Mutation_p.T314M|PDE1C_uc003tcr.3_Missense_Mutation_p.T254M|PDE1C_uc003tcs.3_Missense_Mutation_p.T254M	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	254	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L253Q(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)			CTCCAGCTCCGTCAGCCAGTT	0.463													A	31890345	G	A	31890345	3	1	92	1	0	0	0	0	1	0	0	0	11635	1145	40	1	1183	1	PDE1C	7	31890345	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08		31890345	127248318	27	6001											
ABCA13	154664	broad.mit.edu	37	7	48556332	48556332	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:48556332T>C	uc003toq.2	+	51	13676	c.13652T>C	c.(13651-13653)cTt>cCt	p.L4551P	ABCA13_uc010kys.1_Missense_Mutation_p.L1626P|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.L281P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4551					transport	integral to membrane	ATP binding|ATPase activity			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						TATGCAACTCTTCCATGGATG	0.378													C	48556332	T	C	48556332	3	2	92	1	0	0	0	0	1	0	0	0	31	1609	56	4	13687	4	ABCA13	7	48556332	Missense_Mutation	SNP	T	TCGA-06-5415-01A-01D-1486-08	16665987	48556332	110582331	28	6002											
STEAP2	261729	broad.mit.edu	37	7	89856794	89856794	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:89856794C>T	uc010len.3	+	3	1508	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	STEAP2_uc003ujy.2_Silent_p.L376L|STEAP2_uc003uka.3_Silent_p.L334L|STEAP2_uc003ujz.3_Silent_p.L334L|STEAP2_uc003ukc.3_Silent_p.L334L|STEAP2_uc003ukb.3_Silent_p.L334L|STEAP2_uc003ukd.3_Silent_p.L334L	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	334	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATTTGTTTCTCAACATGGCTT	0.338													T	89856794	C	T	89856794	2	4	92	1	0	0	0	0	0	0	0	1	15277	813	29	3		3	STEAP2	7	89856794	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	41300462	89856794	69281869	29	6003											
ZAN	7455	broad.mit.edu	37	7	100382333	100382333	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:100382333C>T	uc003uwj.3	+	36	6873	c.6708C>T	c.(6706-6708)ggC>ggT	p.G2236G	ZAN_uc003uwk.3_Silent_p.G2236G|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.G287G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2237	TIL 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			GGTGTGAGGGCGCCAAAGTCC	0.612													T	100382333	C	T	100382333	2	4	92	1	0	0	0	0	0	0	0	1	17510	755	27	1		1	ZAN	7	100382333	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	10525539	100382333	58756330	30	6004											
IFRD1	3475	broad.mit.edu	37	7	112097053	112097053	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:112097053delA	uc003vgh.3	+	4	839	c.369delA	c.(367-369)agafs	p.R123fs	IFRD1_uc011kmn.2_Frame_Shift_Del_p.R73fs|IFRD1_uc003vgi.3_Frame_Shift_Del_p.R123fs|IFRD1_uc003vgj.3_Frame_Shift_Del_p.R123fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Del_p.R73fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	123					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGGAAAGGAGAATGACTTTAA	0.368													-	112097053	A	-	112097053	7	5	92	1	0	1	0	1	0	0	0	0	7553	243	9	0	383	0	IFRD1	7	112097053	Frame_Shift_Del	DEL	A	TCGA-06-5415-01A-01D-1486-08	11714720	112097053	47041610	31	6005											
FLNC	2318	broad.mit.edu	37	7	128490536	128490536	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:128490536A>G	uc003vnz.4	+	32	5607	c.5398_splice	c.e32+1	p.G1800_splice	FLNC_uc003voa.4_Splice_Site_p.G1767_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1800					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			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						GGGAGCTCACAGGTACTGCCC	0.592													G	128490536	A	G	128490536	2	3	92	1	0	0	0	0	0	0	0	1	5935	202	7	4		4	FLNC	7	128490536	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08	16393483	128490536	30648127	32	6006											
FLNC	2318	broad.mit.edu	37	7	128493857	128493857	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:128493857C>T	uc003vnz.4	+	38	6659	c.6450C>T	c.(6448-6450)atC>atT	p.I2150I	FLNC_uc003voa.4_Silent_p.I2117I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2150					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			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						TCGCCACCATCGGCAGCACCT	0.662													T	128493857	C	T	128493857	2	4	92	1	0	0	0	0	0	0	0	1	5935	874	31	2		2	FLNC	7	128493857	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	3321	128493857	30644806	33	6007											
C7orf49	78996	broad.mit.edu	37	7	134851619	134851619	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:134851619C>T	uc003vsl.3	-	3	531	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Missense_Mutation_p.R44H|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Missense_Mutation_p.R18H|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Missense_Mutation_p.R18H|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	73						cytoplasm		p.P72L(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTCCTGTTTGCGGCTCTGTGG	0.552													T	134851619	C	T	134851619	3	4	92	1	0	0	0	0	1	0	0	0	2398	768	27	1	259	1	C7orf49	7	134851619	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	6357762	134851619	24287044	34	6008											
ATP6V0A4	50617	broad.mit.edu	37	7	138453573	138453573	+	Silent	SNP	G	G	A	rs137955459		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:138453573G>A	uc003vuf.3	-	3	481	c.243C>T	c.(241-243)ctC>ctT	p.L81L	ATP6V0A4_uc003vug.3_Silent_p.L81L|ATP6V0A4_uc003vuh.3_Silent_p.L81L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	81					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCTTTTCTCGAGCAACTGAA	0.483													A	138453573	G	A	138453573	2	1	92	1	0	0	0	0	0	0	0	1	1170	1045	37	2		2	ATP6V0A4	7	138453573	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	3601954	138453573	20685090	35	6009											
KEL	3792	broad.mit.edu	37	7	142658446	142658446	+	Splice_Site	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:142658446C>T	uc003wcb.3	-	3	433	c.223_splice	c.e3+1	p.R75_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	75					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)					ATCTTGCTTACGAGGGCCACA	0.602													T	142658446	C	T	142658446	5	4	92	1	0	0	0	0	0	0	1	0	8142	550	19	1	2042	1	KEL	7	142658446	Splice_Site	SNP	C	TCGA-06-5415-01A-01D-1486-08	4204873	142658446	16480217	36	6010											
FAM83H	286077	broad.mit.edu	37	8	144810766	144810766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr8:144810766C>T	uc003yzk.3	-	4	934	c.865G>A	c.(865-867)Gcg>Acg	p.A289T		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	289					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAGGGCCGCGGCCGAGGGC	0.711													T	144810766	C	T	144810766	3	4	92	1	0	0	0	0	1	0	0	0	5640	768	27	1	2678	1	FAM83H	8	144810766	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		144810766	1553256	37	6011											
EPPK1	83481	broad.mit.edu	37	8	144940597	144940597	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr8:144940597G>A	uc003zaa.1	-	0	6838	c.6825C>T	c.(6823-6825)ccC>ccT	p.P2275P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2275						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.D2274D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTGCGCACGGGGTCGATGA	0.721													A	144940597	G	A	144940597	2	1	92	1	0	0	0	0	0	0	0	1	5190	1103	39	2		2	EPPK1	8	144940597	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	129831	144940597	1423425	38	6012											
MKX	283078	broad.mit.edu	37	10	27964299	27964299	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr10:27964299C>T	uc001ity.4	-	6	1143	c.918G>A	c.(916-918)aaG>aaA	p.K306K	MKX_uc001itx.4_Silent_p.K306K	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	306					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CGTTGATCTCCTTCCAATACG	0.458													T	27964299	C	T	27964299	2	4	92	1	0	0	0	0	0	0	0	1	9610	680	24	3		3	MKX	10	27964299	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08		27964299	107570448	39	6013											
C10orf12	26148	broad.mit.edu	37	10	98741746	98741746	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr10:98741746G>A	uc001kmv.3	+	0	706	c.599G>A	c.(598-600)tGt>tAt	p.C200Y	C10orf12_uc009xvg.2_Missense_Mutation_p.C510Y	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	200										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AATGGTGACTGTTGTGAGCTG	0.423													A	98741746	G	A	98741746	3	1	92	1	0	0	0	0	1	0	0	0	1589	1377	48	3	601	3	C10orf12	10	98741746	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	70777447	98741746	36793001	40	6014											
MMP10	4319	broad.mit.edu	37	11	102647144	102647144	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr11:102647144C>T	uc001phg.2	-	5	836	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	267					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		TCAGTAGAGGCAGGGGGAGGT	0.468													T	102647144	C	T	102647144	3	4	92	1	0	0	0	0	1	0	0	0	9649	710	25	3	651	3	MMP10	11	102647144	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		102647144	32359372	41	6015											
DDX25	29118	broad.mit.edu	37	11	125787056	125787056	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr11:125787056C>T	uc001qcz.4	+	8	1089	c.948C>T	c.(946-948)taC>taT	p.Y316Y	DDX25_uc010sbk.2_Silent_p.Y316Y	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	316	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GGCAATATTACGTGCTGTGTG	0.478													T	125787056	C	T	125787056	2	4	92	1	0	0	0	0	0	0	0	1	4352	547	19	1		1	DDX25	11	125787056	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	23139912	125787056	9219460	42	6016											
ITPR2	3709	broad.mit.edu	37	12	26864181	26864181	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:26864181G>A	uc001rhg.3	-	8	1293	c.876C>T	c.(874-876)tgC>tgT	p.C292C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	292					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACCCCCACGGCATGGGTCAT	0.433													A	26864181	G	A	26864181	2	1	92	1	0	0	0	0	0	0	0	1	7921	1195	42	3		3	ITPR2	12	26864181	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		26864181	106987714	43	6017											
PRPF40B	25766	broad.mit.edu	37	12	50028946	50028946	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:50028946G>C	uc001rur.1	+	11	1063	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	PRPF40B_uc001rup.1_Missense_Mutation_p.E356Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.E328Q|PRPF40B_uc001rus.1_Missense_Mutation_p.E277Q	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	334					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCGGGAGAAGGAGGAGAAGGA	0.582													C	50028946	G	C	50028946	3	2	92	1	0	0	0	0	1	0	0	0	12572	1175	41	5	1046	5	PRPF40B	12	50028946	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	23164765	50028946	83822949	44	6018											
CAPS2	84698	broad.mit.edu	37	12	75692734	75692734	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:75692734A>C	uc001sxl.3	-	9	896	c.867T>G	c.(865-867)gaT>gaG	p.D289E	CAPS2_uc001sxm.3_Missense_Mutation_p.D76E|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.4_Intron|CAPS2_uc001sxj.4_Intron|CAPS2_uc001sxk.4_Missense_Mutation_p.D308E	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	308							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CTCTGCAAGCATCACGTCCAT	0.308													C	75692734	A	C	75692734	3	2	92	1	0	0	0	0	1	0	0	0	2638	214	8	5	781	5	CAPS2	12	75692734	Missense_Mutation	SNP	A	TCGA-06-5415-01A-01D-1486-08	25663788	75692734	58159161	45	6019											
NT5DC3	51559	broad.mit.edu	37	12	104186945	104186945	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:104186945C>T	uc010swe.1	-	8	1057	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	339							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CACTCACCTCCGCTTATCATT	0.403													T	104186945	C	T	104186945	3	4	92	1	0	0	0	0	1	0	0	0	10692	652	23	2	654	2	NT5DC3	12	104186945	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	28494211	104186945	29664950	46	6020											
NOS1	4842	broad.mit.edu	37	12	117710315	117710315	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:117710315C>T	uc001twn.2	-	9	2425	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	NOS1_uc021ren.1_Missense_Mutation_p.V236M|NOS1_uc021reo.1_Missense_Mutation_p.V236M|NOS1_uc001twm.2_Missense_Mutation_p.V572M	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	572					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.V572M(2)|p.A571A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGTTGGACACGGCGGGGAGG	0.617													T	117710315	C	T	117710315	3	4	92	1	0	0	0	0	1	0	0	0	10541	536	19	1	2670	1	NOS1	12	117710315	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	13523370	117710315	16141580	47	6021											
TMEM132D	121256	broad.mit.edu	37	12	130015732	130015732	+	Silent	SNP	G	G	A	rs147002439		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:130015732G>A	uc009zyl.1	-	2	1315	c.987C>T	c.(985-987)ggC>ggT	p.G329G		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	329						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)		TGATGTTCACGCCTTTCTTCA	0.557													A	130015732	G	A	130015732	2	1	92	1	0	0	0	0	0	0	0	1	16044	1074	38	1		1	TMEM132D	12	130015732	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	12305417	130015732	3836163	48	6022											
SERPINA10	51156	broad.mit.edu	37	14	94756360	94756360	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr14:94756360C>T	uc001yct.3	-	1	1037	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	SERPINA10_uc001ycu.4_Missense_Mutation_p.V191M	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	191					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCATAGGCACGCACTCTGTA	0.418													T	94756360	C	T	94756360	3	4	92	1	0	0	0	0	1	0	0	0	14087	536	19	1	779	1	SERPINA10	14	94756360	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		94756360	12593180	49	6023											
CILP	8483	broad.mit.edu	37	15	65489345	65489345	+	Silent	SNP	G	G	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr15:65489345G>T	uc002aon.2	-	8	3460	c.3279C>A	c.(3277-3279)ggC>ggA	p.G1093G		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	1093					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.L1092L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAAAGCACCGGCCGAGCGCGA	0.582													T	65489345	G	T	65489345	2	4	92	1	0	0	0	0	0	0	0	1	3429	1190	42	5		5	CILP	15	65489345	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		65489345	37042047	50	6024											
SV2B	9899	broad.mit.edu	37	15	91835641	91835641	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr15:91835641C>T	uc002bqv.3	+	13	2802	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.G486G	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	637					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.F636F(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)			GCAAATTTGGCGCCATCCTGG	0.463													T	91835641	C	T	91835641	2	4	92	1	0	0	0	0	0	0	0	1	15415	755	27	1		1	SV2B	15	91835641	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	26346296	91835641	10695751	51	6025											
MSLNL	401827	broad.mit.edu	37	16	822701	822701	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:822701G>A	uc002cjz.1	-	11	2406	c.2406C>T	c.(2404-2406)atC>atT	p.I802I		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	451					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCTGGGGATGGATGGTCTGGA	0.647													A	822701	G	A	822701	2	1	92	1	0	0	0	0	0	0	0	1	9882	1164	41	3		3	MSLNL	16	822701	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		822701	89532052	52	6026											
ERCC4	2072	broad.mit.edu	37	16	14024621	14024621	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:14024621T>A	uc002dce.2	+	4	856	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	ERCC4_uc010bva.3_Missense_Mutation_p.S283T	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	283	Leucine-zipper 2.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CAAGACTAAATCCTTAGTTCA	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	14024621	T	A	14024621	3	1	92	1	0	0	0	0	1	0	0	0	5215	1435	50	5	865	5	ERCC4	16	14024621	Missense_Mutation	SNP	T	TCGA-06-5415-01A-01D-1486-08	13201920	14024621	76330132	53	6027											
ITPRIPL2	162073	broad.mit.edu	37	16	19126333	19126333	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:19126333C>G	uc002dfu.4	+	0	1080	c.550C>G	c.(550-552)Ccg>Gcg	p.P184A	ITPRIPL2_uc002dft.3_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	184						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCGCCTCCCGCCGCTTGTGGC	0.697											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	19126333	C	G	19126333	3	3	92	1	0	0	0	0	1	0	0	0	7925	739	26	5	552	5	ITPRIPL2	16	19126333	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	5101712	19126333	71228420	54	6028											
RANBP10	57610	broad.mit.edu	37	16	67763893	67763893	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:67763893G>C	uc002eud.3	-	7	1062	c.946C>G	c.(946-948)Cgc>Ggc	p.R316G	RANBP10_uc010ceo.3_Missense_Mutation_p.R87G|RANBP10_uc010vju.2_Missense_Mutation_p.R260G|RANBP10_uc010vjv.2_Missense_Mutation_p.R199G|RANBP10_uc010vjw.1_5'UTR	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	316	CTLH.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGTAGAAGCGCTGGGTGGTC	0.632													C	67763893	G	C	67763893	3	2	92	1	0	0	0	0	1	0	0	0	13026	1087	38	5	944	5	RANBP10	16	67763893	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	48637560	67763893	22590860	55	6029											
DNAH2	146754	broad.mit.edu	37	17	7671485	7671485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr17:7671485C>T	uc002giu.1	+	22	3855	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1281	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCTCAGGACCGAAACTGGGA	0.547													T	7671485	C	T	7671485	4	4	92	1	0	0	0	0	0	1	0	0	4602	644	23	2	3931	2	DNAH2	17	7671485	Nonsense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		7671485	73523725	56	6030											
DSG1	1828	broad.mit.edu	37	18	28913591	28913591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr18:28913591C>T	uc002kwp.3	+	6	936	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	242	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGGCTCTGACCGAGATGGCGG	0.428													T	28913591	C	T	28913591	4	4	92	1	0	0	0	0	0	1	0	0	4776	644	23	2	750	2	DSG1	18	28913591	Nonsense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		28913591	49163657	57	6031											
MUC16	94025	broad.mit.edu	37	19	8996490	8996490	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:8996490A>G	uc002mkp.3	-	60	41286	c.41082T>C	c.(41080-41082)ccT>ccC	p.P13694P	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.P511P|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13696	SEA 11.			Missing (in Ref. 3; AAK74120).	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						CATCCTTTTCAGGCCTGGAGA	0.542													G	8996490	A	G	8996490	2	3	92	1	0	0	0	0	0	0	0	1	9973	175	7	4		4	MUC16	19	8996490	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08		8996490	50132493	58	6032											
RASAL3	64926	broad.mit.edu	37	19	15571922	15571922	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:15571922A>G	uc002nbe.2	-	4	641	c.555T>C	c.(553-555)ccT>ccC	p.P185P		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	185					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTGTTTTTCCAGGCATCCGAT	0.582													G	15571922	A	G	15571922	2	3	92	1	0	0	0	0	0	0	0	1	13065	175	7	4		4	RASAL3	19	15571922	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08	6575432	15571922	43557061	59	6033											
ZNF507	22847	broad.mit.edu	37	19	32847587	32847609	+	Frame_Shift_Del	DEL	TAATGAGCCAAGAATTTCCAGTG	TAATGAGCCAAGAATTTCCAGTG	-			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	uc002nte.3	+	3	2465_2487	c.2193_2215delTAATGAGCCAAGAATTTCCAGTG	c.(2191-2217)tctaatgagccaagaatttccagtgatfs	p.S731fs	ZNF507_uc002ntc.2_Frame_Shift_Del_p.S731fs|ZNF507_uc010xrn.1_Frame_Shift_Del_p.S731fs|ZNF507_uc002ntd.3_Frame_Shift_Del_p.S731fs	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TAGCAACTTCTAATGAGCCAAGAATTTCCAGTGATACAGCTGA	0.381													-	32847609	TAATGAGCCAAGAATTTCCAGTG	-	32847587	7	5	92	1	0	1	0	1	0	0	0	0	17950	1509	53	0	2199	0	ZNF507	19	32847587	Frame_Shift_Del	DEL	TAATGAGCCAAGAATTTCCAGTG	TCGA-06-5415-01A-01D-1486-08	17275665	32847587	26281396	60	6034											
OPA3	80207	broad.mit.edu	37	19	46056784	46056784	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:46056784C>T	uc002pcj.4	-						OPA3_uc002pck.4_Silent_p.A176A|OPA3_uc010xxk.2_Silent_p.A123A	NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATTTCTTGGACGCAGGCACTG	0.637													T	46056784	C	T	46056784	2	4	92	1	0	0	0	0	0	0	0	1	10872	523	19	1		1	OPA3	19	46056784	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	13209197	46056784	13072199	61	6035											
CCDC114	93233	broad.mit.edu	37	19	48805978	48805978	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:48805978G>A	uc002pir.2	-	9	1785	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	CCDC114_uc002piq.2_Missense_Mutation_p.R177W|CCDC114_uc002pio.3_Missense_Mutation_p.R405W|CCDC114_uc002pis.1_Missense_Mutation_p.R48W|CCDC114_uc002pit.1_Missense_Mutation_p.R405W	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	368										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGCTGTCCCCGCACATCCTGG	0.647													A	48805978	G	A	48805978	3	1	92	1	0	0	0	0	1	0	0	0	2751	1086	38	1	930	1	CCDC114	19	48805978	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	2749194	48805978	10323005	62	6036											
CA11	770	broad.mit.edu	37	19	49143426	49143426	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:49143426G>C	uc002pjz.1	-	3	959	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	133						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		AGCAGCCGCAGTTCACTGAGT	0.592													C	49143426	G	C	49143426	3	2	92	1	0	0	0	0	1	0	0	0	2512	1020	36	5	613	5	CA11	19	49143426	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	337448	49143426	9985557	63	6037											
SIGLEC10	89790	broad.mit.edu	37	19	51919569	51919569	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:51919569G>A	uc002pwo.3	-	3	971	c.749C>T	c.(748-750)aCg>aTg	p.T250M	SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	250					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			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)		AGTACCTGGCGTGTTGTCACG	0.547													A	51919569	G	A	51919569	3	1	92	1	0	0	0	0	1	0	0	0	14306	1145	40	1	1376	1	SIGLEC10	19	51919569	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	2776143	51919569	7209414	64	6038											
LILRB4	11006	broad.mit.edu	37	19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55175317G>A	uc002qgp.3	+	2	538	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_uc002qgo.1_Missense_Mutation_p.R100H|LILRB4_uc002qgq.3_Missense_Mutation_p.R59H|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.R100H|LILRB4_uc010eru.3_Missense_Mutation_p.R88H	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	59	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			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)		CGGGAGTACCGTCTGGATAAA	0.587													A	55175317	G	A	55175317	3	1	92	1	0	0	0	0	1	0	0	0	8793	1145	40	1	186	1	LILRB4	19	55175317	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	3255748	55175317	3953666	65	6039											
NLRP7	199713	broad.mit.edu	37	19	55450816	55450816	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55450816G>A	uc002qih.4	-	3	1447	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	NLRP7_uc010esk.3_Silent_p.D457D|NLRP7_uc002qig.4_Silent_p.D457D|NLRP7_uc002qii.4_Silent_p.D457D|NLRP7_uc010esl.3_Silent_p.D485D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	457	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAGACTCTGTCCTGGCGGA	0.617													A	55450816	G	A	55450816	2	1	92	1	0	0	0	0	0	0	0	1	10482	1368	48	3		3	NLRP7	19	55450816	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	275499	55450816	3678167	66	6040											
PTPRH	5794	broad.mit.edu	37	19	55708508	55708508	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55708508G>A	uc002qjq.3	-	8	2040	c.1967C>T	c.(1966-1968)aCg>aTg	p.T656M	PTPRH_uc010esv.3_Missense_Mutation_p.T478M|PTPRH_uc002qjs.2_Missense_Mutation_p.T663M	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	656	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		GAGGCTCTGCGTGGAACTGGC	0.547													A	55708508	G	A	55708508	3	1	92	1	0	0	0	0	1	0	0	0	12803	1145	40	1	1428	1	PTPRH	19	55708508	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	257692	55708508	3420475	67	6041											
PCSK2	5126	broad.mit.edu	37	20	17445987	17445987	+	Missense_Mutation	SNP	C	C	T	rs138900084		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:17445987C>T	uc002wpm.3	+	10	1573	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	PCSK2_uc002wpl.3_Missense_Mutation_p.R388W|PCSK2_uc010zrm.2_Missense_Mutation_p.R372W|PCSK2_uc002wpn.3_Missense_Mutation_p.R61W	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	407	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGACCTGGCGGGACATGCA	0.552													T	17445987	C	T	17445987	3	4	92	1	0	0	0	0	1	0	0	0	11601	759	27	1	1261	1	PCSK2	20	17445987	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		17445987	45579533	68	6042											
TPX2	22974	broad.mit.edu	37	20	30371716	30371716	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:30371716G>T	uc002wwp.1	+	11	2103	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y	TPX2_uc010gdv.1_Missense_Mutation_p.D505Y	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	469					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GATTTTGGAAGATGTTGTGGT	0.413													T	30371716	G	T	30371716	3	4	92	1	0	0	0	0	1	0	0	0	16429	942	33	5	1443	5	TPX2	20	30371716	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	12925729	30371716	32653804	69	6043											
BPI	671	broad.mit.edu	37	20	36932646	36932646	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:36932646C>T	uc002xib.2	+	0	95	c.33C>T	c.(31-33)aaC>aaT	p.N11N		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	11					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCCTTGCAACGCGCCGAGAT	0.627													T	36932646	C	T	36932646	2	4	92	1	0	0	0	0	0	0	0	1	1490	535	19	1		1	BPI	20	36932646	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	6560930	36932646	26092874	70	6044											
KRTAP10-9	386676	broad.mit.edu	37	21	46047200	46047200	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr21:46047200G>A	uc002zfp.4	+	0	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	38	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CAGCTGCTGCGCCCCGGCCCC	0.687													A	46047200	G	A	46047200	3	1	92	1	0	0	0	0	1	0	0	0	8516	1087	38	1	114	1	KRTAP10-9	21	46047200	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08		46047200	2082695	71	6045											
KRTAP10-11	386678	broad.mit.edu	37	21	46066382	46066382	+	Missense_Mutation	SNP	G	G	A	rs150246805	by1000genomes	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr21:46066382G>A	uc002zfr.4	+	0	52	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	3						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCATGGCCGCGTCCACCAT	0.647													A	46066382	G	A	46066382	3	1	92	1	0	0	0	0	1	0	0	0	8507	1087	38	1	9	1	KRTAP10-11	21	46066382	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	19182	46066382	2063513	72	6046											
TMPRSS6	164656	broad.mit.edu	37	22	37491997	37491997	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr22:37491997C>T	uc003aqt.1	-	4	600	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V189I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V180I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	189					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGTAGGGGACGGCAGCCGAG	0.642													T	37491997	C	T	37491997	3	4	92	1	0	0	0	0	1	0	0	0	16248	536	19	1	1926	1	TMPRSS6	22	37491997	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		37491997	13812569	73	6047											
HSPG2	3339	broad.mit.edu	37	1	22154901	22154901	+	Missense_Mutation	SNP	G	G	A	rs146179360	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:22154901G>A	uc009vqd.3	-	88	12299	c.12259C>T	c.(12259-12261)Cgg>Tgg	p.R4087W	HSPG2_uc001bfi.3_Missense_Mutation_p.R103W|HSPG2_uc001bfj.3_Missense_Mutation_p.R4086W	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	4086	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGTCCAGCCGTTTGCCATTC	0.597													A	22154901	G	A	22154901	3	1	93	1	0	0	0	0	1	0	0	0	7430	1144	40	1	955	1	HSPG2	1	22154901	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		22154901	227095720	1	6048											
GRHL3	57822	broad.mit.edu	37	1	24661135	24661135	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:24661135G>T	uc021oiw.1	+	3	435	c.205_splice	c.e3-1	p.G69_splice	GRHL3_uc001bix.3_Splice_Site_p.G69_splice|GRHL3_uc021oix.1_Splice_Site_p.G23_splice|GRHL3_uc001biy.3_Splice_Site_p.G74_splice|GRHL3_uc001biz.3_Splice_Site	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	69	Transcription activation.				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTCTTCTCAGGGTCCCAAGGA	0.552													T	24661135	G	T	24661135	3	4	93	1	0	0	0	0	1	0	0	0	6765	1246	43	5	251	5	GRHL3	1	24661135	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	2506234	24661135	224589486	2	6049											
FAM73A	374986	broad.mit.edu	37	1	78338781	78338781	+	Silent	SNP	G	G	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:78338781G>C	uc010ork.2	+	14	1691	c.1659G>C	c.(1657-1659)ctG>ctC	p.L553L	FAM73A_uc001dhx.3_Silent_p.L552L|FAM73A_uc010orl.2_Silent_p.L515L	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	552						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAAATTCTCTGTATGATTTAT	0.358													C	78338781	G	C	78338781	2	2	93	1	0	0	0	0	0	0	0	1	5617	1364	48	5		5	FAM73A	1	78338781	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08	53677646	78338781	170911840	3	6050											
TTLL7	79739	broad.mit.edu	37	1	84408356	84408356	+	Silent	SNP	A	A	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:84408356A>T	uc001djc.3	-	6	909	c.513T>A	c.(511-513)tcT>tcA	p.S171S	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	171	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTCTTATCAAAGAAATCCTAT	0.294													T	84408356	A	T	84408356	2	4	93	1	0	0	0	0	0	0	0	1	16729	59	3	5		5	TTLL7	1	84408356	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	6069575	84408356	164842265	4	6051											
KCNA10	3744	broad.mit.edu	37	1	111060530	111060530	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:111060530G>A	uc001dzt.1	-	0	1268	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	294						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GTCTTGCTGGGGCAGACCACG	0.512													A	111060530	G	A	111060530	3	1	93	1	0	0	0	0	1	0	0	0	8002	1232	43	3	659	3	KCNA10	1	111060530	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	26652174	111060530	138190091	5	6052											
FLG2	388698	broad.mit.edu	37	1	152326101	152326101	+	Silent	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:152326101T>C	uc001ezw.4	-	2	4234	c.4161A>G	c.(4159-4161)agA>agG	p.R1387R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1387							calcium ion binding|structural molecule activity	p.E1386D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGTTTCATGTCTCTCATGAA	0.507													C	152326101	T	C	152326101	2	2	93	1	0	0	0	0	0	0	0	1	5923	1664	58	4		4	FLG2	1	152326101	Silent	SNP	T	TCGA-06-5417-01A-01D-1486-08	41265571	152326101	96924520	6	6053											
RNPEP	6051	broad.mit.edu	37	1	201966632	201966632	+	Missense_Mutation	SNP	A	A	T	rs114130028		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:201966632A>T	uc001gxd.3	+	4	1069	c.1040A>T	c.(1039-1041)aAt>aTt	p.N347I	RNPEP_uc001gxe.3_Missense_Mutation_p.N48I	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	347					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TTCTGGCTCAATGAAGGTTTC	0.542													T	201966632	A	T	201966632	3	4	93	1	0	0	0	0	1	0	0	0	13509	101	4	5	1058	5	RNPEP	1	201966632	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	49640531	201966632	47283989	7	6054											
RPS6KC1	26750	broad.mit.edu	37	1	213414537	213414537	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:213414537T>C	uc010ptr.2	+	10	1877	c.1718T>C	c.(1717-1719)tTc>tCc	p.F573S	RPS6KC1_uc001hkd.3_Missense_Mutation_p.F561S|RPS6KC1_uc010pts.2_Missense_Mutation_p.F361S|RPS6KC1_uc010ptt.2_Missense_Mutation_p.F361S|RPS6KC1_uc010ptu.2_Missense_Mutation_p.F392S|RPS6KC1_uc010ptv.2_Missense_Mutation_p.F108S|RPS6KC1_uc001hke.3_Missense_Mutation_p.F392S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	573					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTGAAGTTCTTCCCCAACGAT	0.458													C	213414537	T	C	213414537	3	2	93	1	0	0	0	0	1	0	0	0	13658	1783	62	4	1760	4	RPS6KC1	1	213414537	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	11447905	213414537	35836084	8	6055											
EPAS1	2034	broad.mit.edu	37	2	46603736	46603736	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:46603736delC	uc002ruv.3	+	8	1603	c.1093delC	c.(1093-1095)cccfs	p.P365fs		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	365					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGTTCAAGCCCCACCTGAT	0.493													-	46603736	C	-	46603736	7	5	93	1	0	1	0	1	0	0	0	0	5150	739	26	0	1127	0	EPAS1	2	46603736	Frame_Shift_Del	DEL	C	TCGA-06-5417-01A-01D-1486-08		46603736	196595637	9	6056											
SPTBN1	6711	broad.mit.edu	37	2	54856159	54856159	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:54856159C>T	uc002rxu.3	+	13	2137	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	SPTBN1_uc002rxv.1_Missense_Mutation_p.R630C|SPTBN1_uc002rxx.3_Missense_Mutation_p.R617C	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	630					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGCGGCTGAGCGCAGGGCCCG	0.582													T	54856159	C	T	54856159	3	4	93	1	0	0	0	0	1	0	0	0	15118	768	27	1	2051	1	SPTBN1	2	54856159	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	8252423	54856159	188343214	10	6057											
GALNT13	114805	broad.mit.edu	37	2	155099286	155099286	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:155099286G>A	uc002tyt.4	+	3	658	c.554G>A	c.(553-555)cGc>cAc	p.R185H	GALNT13_uc002tyr.4_Missense_Mutation_p.R185H|GALNT13_uc010foc.1_Missense_Mutation_p.R4H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	185	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGGAAGAACGCTCTGGGTTA	0.388													A	155099286	G	A	155099286	3	1	93	1	0	0	0	0	1	0	0	0	6211	1087	38	1	568	1	GALNT13	2	155099286	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	100243127	155099286	88100087	11	6058											
MDH1B	130752	broad.mit.edu	37	2	207615789	207615789	+	Silent	SNP	G	G	A	rs146327472	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:207615789G>A	uc002vbs.3	-	5	976	c.921C>T	c.(919-921)gaC>gaT	p.D307D	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.D307D|MDH1B_uc021vvm.1_Silent_p.D209D	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	307					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAATGATCACGTCTTTAATGT	0.318													A	207615789	G	A	207615789	2	1	93	1	0	0	0	0	0	0	0	1	9409	1136	40	1		1	MDH1B	2	207615789	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08	52516503	207615789	35583584	12	6059											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	93	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	1497323	209113112	34086261	13	6060											
ROBO1	6091	broad.mit.edu	37	3	78656067	78656070	+	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:78656067_78656070delTCTG	uc003dqe.2	-	28	4765_4768	c.4557_4560delCAGA	c.(4555-4560)gacagafs	p.D1519fs	ROBO1_uc003dqc.2_Frame_Shift_Del_p.D1419fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.D1474fs|ROBO1_uc003dqb.2_Frame_Shift_Del_p.D1480fs|ROBO1_uc010hoh.2_Frame_Shift_Del_p.D711fs|ROBO1_uc011bgl.1_Frame_Shift_Del_p.D1091fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1519					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTCTGATGATCTGTCTGTTCTTG	0.485													-	78656070	TCTG	-	78656067	7	5	93	1	0	1	0	1	0	0	0	0	13513	1432	50	0	407	0	ROBO1	3	78656067	Frame_Shift_Del	DEL	TCTG	TCGA-06-5417-01A-01D-1486-08		78656067	119366363	14	6061											
POLQ	10721	broad.mit.edu	37	3	121230744	121230744	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:121230744G>C	uc003eee.4	-	9	1730	c.1601C>G	c.(1600-1602)gCt>gGt	p.A534G		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	534	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCCAGAATAGCTCGTATCAT	0.358								DNA polymerases (catalytic subunits)					C	121230744	G	C	121230744	3	2	93	1	0	0	0	0	1	0	0	0	12208	971	34	5	6255	5	POLQ	3	121230744	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	42574677	121230744	76791686	15	6062											
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	93	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	57705347	178936091	19086339	16	6063											
EIF4G1	1981	broad.mit.edu	37	3	184052651	184052651	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:184052651C>G	uc003fnp.3	+	32	5026	c.4755C>G	c.(4753-4755)ttC>ttG	p.F1585L	EIF4G1_uc010hxx.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnt.3_Missense_Mutation_p.F1296L|EIF4G1_uc010hxy.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnq.3_Missense_Mutation_p.F1498L|EIF4G1_uc003fnr.3_Missense_Mutation_p.F1421L|EIF4G1_uc003fns.3_Missense_Mutation_p.F1545L|EIF4G1_uc003fnv.4_Missense_Mutation_p.F1586L|EIF4G1_uc003fnw.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnx.3_Missense_Mutation_p.F1390L|FAM131A_uc003foc.3_5'Flank|FAM131A_uc003fod.2_5'Flank|FAM131A_uc003foe.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1585	EIF4A-binding.|Necessary but not sufficient for MKNK1- binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCACAGCCTTCTTCAAGTGGC	0.607													G	184052651	C	G	184052651	3	3	93	1	0	0	0	0	1	0	0	0	5036	912	32	5	4877	5	EIF4G1	3	184052651	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	5116560	184052651	13969779	17	6064											
SEL1L3	23231	broad.mit.edu	37	4	25819779	25819779	+	Silent	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:25819779C>T	uc003gru.4	-	8	1697	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	515						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATCCATCTCCAGCAATGCCT	0.537													T	25819779	C	T	25819779	2	4	93	1	0	0	0	0	0	0	0	1	14012	581	21	3		3	SEL1L3	4	25819779	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08		25819779	165334497	18	6065											
WDR19	57728	broad.mit.edu	37	4	39218764	39218764	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:39218764A>T	uc003gtv.3	+	12	1414	c.1260A>T	c.(1258-1260)aaA>aaT	p.K420N	WDR19_uc003gtu.1_Missense_Mutation_p.K420N|WDR19_uc011byi.2_Missense_Mutation_p.K260N|WDR19_uc003gtw.1_Missense_Mutation_p.K17N	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	420					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CTGTGAAAAAATTGAAAGATA	0.343													T	39218764	A	T	39218764	3	4	93	1	0	0	0	0	1	0	0	0	17276	98	4	5	1310	5	WDR19	4	39218764	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	13398985	39218764	151935512	19	6066											
ZAR1	326340	broad.mit.edu	37	4	48494815	48494815	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:48494815C>G	uc003gyd.3	+	1	996	c.996C>G	c.(994-996)tgC>tgG	p.C332W		NM_175619	NP_783318	Q86SH2	ZAR1_HUMAN	Homo sapiens zygote arrest 1 (ZAR1), mRNA.	332					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						ATTACCACTGCAAGGACTGCA	0.418													G	48494815	C	G	48494815	3	3	93	1	0	0	0	0	1	0	0	0	17512	718	25	5	1002	5	ZAR1	4	48494815	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	9276051	48494815	142659461	20	6067											
POLR2B	5431	broad.mit.edu	37	4	57890238	57890238	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:57890238G>A	uc003hcl.1	+	20	2967	c.2924G>A	c.(2923-2925)cGt>cAt	p.R975H	POLR2B_uc011cae.1_Missense_Mutation_p.R968H|POLR2B_uc011caf.1_Missense_Mutation_p.R900H|POLR2B_uc003hcm.1_Missense_Mutation_p.R468H	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	975					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATCCCCTCTCGTATGACTATT	0.378													A	57890238	G	A	57890238	3	1	93	1	0	0	0	0	1	0	0	0	12215	1145	40	1	3006	1	POLR2B	4	57890238	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	9395423	57890238	133264038	21	6068											
WWC2	80014	broad.mit.edu	37	4	184210574	184210574	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:184210574delC	uc010irx.3	+	20	3352	c.3170delC	c.(3169-3171)acafs	p.T1057fs	WWC2_uc003ivk.4_Frame_Shift_Del_p.T852fs|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Frame_Shift_Del_p.T739fs|WWC2_uc003ivn.4_Frame_Shift_Del_p.T572fs|WWC2_uc010irz.3_Frame_Shift_Del_p.T398fs|WWC2_uc003ivo.4_Frame_Shift_Del_p.T185fs	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1057										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTTAGAAGAACAACACAGGAA	0.537													-	184210574	C	-	184210574	7	5	93	1	0	1	0	1	0	0	0	0	17409	478	17	0	3252	0	WWC2	4	184210574	Frame_Shift_Del	DEL	C	TCGA-06-5417-01A-01D-1486-08	126320336	184210574	6943702	22	6069											
MARCH6	10299	broad.mit.edu	37	5	10387160	10387160	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:10387160C>G	uc003jet.1	+	4	572	c.389C>G	c.(388-390)cCa>cGa	p.P130R	MARCH6_uc011cmu.1_Missense_Mutation_p.P82R|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.P25R	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	130					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTGACGCTGCCATTAGATATG	0.423													G	10387160	C	G	10387160	3	3	93	1	0	0	0	0	1	0	0	0	9305	594	21	5	407	5	MARCH6	5	10387160	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		10387160	170528100	23	6070											
ACOT12	134526	broad.mit.edu	37	5	80643615	80643615	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:80643615T>C	uc003khl.4	-	5	686	c.631A>G	c.(631-633)Aca>Gca	p.T211A	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	211	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTAGCCACTGTCTCCATCCAC	0.498													C	80643615	T	C	80643615	3	2	93	1	0	0	0	0	1	0	0	0	150	1667	58	4	1076	4	ACOT12	5	80643615	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	70256455	80643615	100271645	24	6071											
STARD4	134429	broad.mit.edu	37	5	110842033	110842033	+	Silent	SNP	T	T	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:110842033T>G	uc003kph.1	-	2	234	c.150A>C	c.(148-150)ggA>ggC	p.G50G	STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_5'UTR|STARD4_uc003kpi.1_Non-coding_Transcript|STARD4_uc003kpj.2_Silent_p.G50G	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	50	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTTACAGATATCCATTAAATT	0.303													G	110842033	T	G	110842033	2	3	93	1	0	0	0	0	0	0	0	1	15258	1422	50	5		5	STARD4	5	110842033	Silent	SNP	T	TCGA-06-5417-01A-01D-1486-08	30198418	110842033	70073227	25	6072											
SOX4	6659	broad.mit.edu	37	6	21595085	21595085	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:21595085C>T	uc003ndi.3	+	0	1114	c.320C>T	c.(319-321)cCt>cTt	p.P107L		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	107					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACAAGATCCCTTTCATTCGA	0.602													T	21595085	C	T	21595085	3	4	93	1	0	0	0	0	1	0	0	0	14953	681	24	3	322	3	SOX4	6	21595085	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		21595085	149519982	26	6073											
VARS2	57176	broad.mit.edu	37	6	30893483	30893483	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:30893483A>G	uc011dmz.2	+	27	3119	c.3038A>G	c.(3037-3039)tAc>tGc	p.Y1013C	VARS2_uc003nsc.2_Missense_Mutation_p.Y983C|VARS2_uc011dmx.2_Missense_Mutation_p.Y983C|VARS2_uc011dmy.2_Missense_Mutation_p.Y843C|VARS2_uc011dna.2_Missense_Mutation_p.Y981C|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.Y421C|VARS2_uc010jsg.2_Missense_Mutation_p.Y355C|VARS2_uc010jsh.2_Missense_Mutation_p.Y127C	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	983					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCTCAAGTCTACATGGAGCTG	0.647													G	30893483	A	G	30893483	3	3	93	1	0	0	0	0	1	0	0	0	17121	391	14	4	3148	4	VARS2	6	30893483	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	9298398	30893483	140221584	27	6074											
PHF1	5252	broad.mit.edu	37	6	33382595	33382595	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:33382595A>G	uc003oeh.3	+	10	1274	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.G346G|PHF1_uc010jux.3_Silent_p.G146G	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	346					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGGAGATGGAGCACTCACCA	0.552											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33382595	A	G	33382595	2	3	93	1	0	0	0	0	0	0	0	1	11820	291	11	4		4	PHF1	6	33382595	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	2489112	33382595	137732472	28	6075											
LMBRD1	55788	broad.mit.edu	37	6	70411840	70411840	+	Silent	SNP	G	G	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:70411840G>C	uc003pfa.3	-	9	1197	c.921C>G	c.(919-921)gtC>gtG	p.V307V	LMBRD1_uc003pez.3_Silent_p.V234V|LMBRD1_uc010kal.3_Silent_p.V234V|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	307					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATATTCCCCAGACGATCTAAA	0.269													C	70411840	G	C	70411840	2	2	93	1	0	0	0	0	0	0	0	1	8842	929	33	5		5	LMBRD1	6	70411840	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08	37029245	70411840	100703227	29	6076											
SYNE1	23345	broad.mit.edu	37	6	152737569	152737569	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:152737569A>G	uc021zhb.1	-	38	6226	c.6003T>C	c.(6001-6003)acT>acC	p.T2001T	SYNE1_uc003qot.4_Silent_p.T2008T|SYNE1_uc003qou.4_Silent_p.T2001T|SYNE1_uc010kjb.1_Silent_p.T1984T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2001					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			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)		GCTCTTTGTCAGTCCTTTCTT	0.448										HNSCC(10;0.0054)			G	152737569	A	G	152737569	2	3	93	1	0	0	0	0	0	0	0	1	15442	175	7	4		4	SYNE1	6	152737569	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	82325729	152737569	18377498	30	6077											
CTTNBP2	83992	broad.mit.edu	37	7	117431218	117431218	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr7:117431218G>A	uc003vjf.3	-	3	2124	c.2032C>T	c.(2032-2034)Cca>Tca	p.P678S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	678										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGCACCTGGTCTACAGGAT	0.468													A	117431218	G	A	117431218	3	1	93	1	0	0	0	0	1	0	0	0	4045	1261	44	3	3039	3	CTTNBP2	7	117431218	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		117431218	41707445	31	6078											
XKR9	389668	broad.mit.edu	37	8	71593354	71593354	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr8:71593354G>T	uc003xyq.3	+	2	595	c.61G>T	c.(61-63)Gat>Tat	p.D21Y	XKR9_uc010lzd.3_5'UTR|XKR9_uc010lze.3_Missense_Mutation_p.D21Y	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	21						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTACGTAACTGATTTAATTGT	0.318													T	71593354	G	T	71593354	3	4	93	1	0	0	0	0	1	0	0	0	17435	1290	45	5	63	5	XKR9	8	71593354	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		71593354	74770668	32	6079											
EFR3A	23167	broad.mit.edu	37	8	132966108	132966108	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr8:132966108A>G	uc003yte.3	+	5	736	c.532A>G	c.(532-534)Aaa>Gaa	p.K178E		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	178						plasma membrane	binding			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)			TGTGGTTCGCAAAACAGTCAA	0.353													G	132966108	A	G	132966108	3	3	93	1	0	0	0	0	1	0	0	0	4958	131	5	4	554	4	EFR3A	8	132966108	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	61372754	132966108	13397914	33	6080											
FBXO10	26267	broad.mit.edu	37	9	37522884	37522884	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:37522884T>C	uc004aac.3	-	6	1996	c.1916A>G	c.(1915-1917)tAt>tGt	p.Y639C	FBXO10_uc004aab.3_Missense_Mutation_p.Y623C|FBXO10_uc004aad.3_Missense_Mutation_p.Y173C	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	623						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCATCTGAATAGCCAAAGCA	0.542													C	37522884	T	C	37522884	3	2	93	1	0	0	0	0	1	0	0	0	5726	1406	49	4	1022	4	FBXO10	9	37522884	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08		37522884	103690547	34	6081											
OR13C8	138802	broad.mit.edu	37	9	107332296	107332296	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:107332296T>C	uc011lvo.2	+	0	848	c.848T>C	c.(847-849)tTc>tCc	p.F283S		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCTCCCTTTTCTATGGAGTG	0.408													C	107332296	T	C	107332296	3	2	93	1	0	0	0	0	1	0	0	0	10938	1783	62	4	850	4	OR13C8	9	107332296	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	69809412	107332296	33881135	35	6082											
OR4S1	256148	broad.mit.edu	37	11	48328474	48328474	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:48328474G>T	uc010rhu.2	+	0	700	c.700G>T	c.(700-702)Gct>Tct	p.A234S		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CCGGCGTAAGGCTGTCTCCAC	0.468													T	48328474	G	T	48328474	3	4	93	1	0	0	0	0	1	0	0	0	11082	1203	42	5	702	5	OR4S1	11	48328474	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		48328474	86678042	36	6083											
CD5	921	broad.mit.edu	37	11	60890382	60890382	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:60890382A>G	uc009ynk.3	+	6	1206	c.1103A>G	c.(1102-1104)cAg>cGg	p.Q368R		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	368	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCCCCAGGCCAGGATCCAAAC	0.657													G	60890382	A	G	60890382	3	3	93	1	0	0	0	0	1	0	0	0	3021	188	7	4	1129	4	CD5	11	60890382	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	12561908	60890382	74116134	37	6084											
TUT1	64852	broad.mit.edu	37	11	62343579	62343579	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:62343579G>A	uc001nto.2	-	8	1764	c.1726C>T	c.(1726-1728)Ccc>Tcc	p.P576S	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	538					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGATTCAGGGGGCCAAGGCGC	0.637													A	62343579	G	A	62343579	3	1	93	1	0	0	0	0	1	0	0	0	16777	1232	43	3	1016	3	TUT1	11	62343579	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	1453197	62343579	72662937	38	6085											
C11orf92	399948	broad.mit.edu	37	11	111166838	111166838	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:111166838A>G	uc001pld.3	-	1		c.2775T>C			C11orf92_uc001ple.3_Non-coding_Transcript					Homo sapiens chromosome 11 open reading frame 92 (C11orf92), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(1)	3						ATTAATGTTGAGCTACAAACC	0.433													G	111166838	A	G	111166838	2	3	93	1	0	0	0	0	0	0	0	1	1672	291	11	4		4	C11orf92	11	111166838	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	48823259	111166838	23839678	39	6086											
BUD13	84811	broad.mit.edu	37	11	116627935	116627935	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:116627935G>A	uc001ppn.3	-	8	1727	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	BUD13_uc001ppo.3_Missense_Mutation_p.R431C	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	565										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCACTGTAGCGAGGTCTCACT	0.413													A	116627935	G	A	116627935	3	1	93	1	0	0	0	0	1	0	0	0	1573	1058	37	2	174	2	BUD13	11	116627935	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	5461097	116627935	18378581	40	6087											
PLEKHG6	55200	broad.mit.edu	37	12	6424277	6424277	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:6424277G>A	uc001qnr.3	+	3	549	c.401G>A	c.(400-402)gGt>gAt	p.G134D	PLEKHG6_uc001qns.3_Missense_Mutation_p.G134D|PLEKHG6_uc010sew.2_Missense_Mutation_p.G134D|PLEKHG6_uc010sex.2_Missense_Mutation_p.G102D	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	134					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATAGGAGAGGGTGGCGACAGT	0.632													A	6424277	G	A	6424277	3	1	93	1	0	0	0	0	1	0	0	0	12074	1261	44	3	457	3	PLEKHG6	12	6424277	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		6424277	127427618	41	6088											
LRP1	4035	broad.mit.edu	37	12	57563089	57563089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:57563089delG	uc001snd.3	+	20	3629	c.3163_splice	c.e20+1	p.A1055_splice	LRP1_uc009zpi.1_Splice_Site	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1055					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			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)	GCACCAACCAGGGTGGGCACC	0.622													-	57563089	G	-	57563089	7	5	93	1	0	1	0	1	0	0	0	0	8951	1014	35	0	3240	0	LRP1	12	57563089	Frame_Shift_Del	DEL	G	TCGA-06-5417-01A-01D-1486-08	51138812	57563089	76288806	42	6089											
LRRIQ1	84125	broad.mit.edu	37	12	85450521	85450521	+	Silent	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:85450521T>C	uc001tac.3	+	7	2061	c.1950T>C	c.(1948-1950)gcT>gcC	p.A650A	LRRIQ1_uc021rbo.1_Silent_p.A528A|LRRIQ1_uc001taa.1_Silent_p.A625A	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	650										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)		AAGACAATGCTTGGAATAGTG	0.313													C	85450521	T	C	85450521	2	2	93	1	0	0	0	0	0	0	0	1	9029	1596	56	4		4	LRRIQ1	12	85450521	Silent	SNP	T	TCGA-06-5417-01A-01D-1486-08	27887432	85450521	48401374	43	6090											
NR2C1	7181	broad.mit.edu	37	12	95442924	95442924	+	Missense_Mutation	SNP	G	G	T	rs149986233		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:95442924G>T	uc001tdm.4	-	8	1307	c.1051C>A	c.(1051-1053)Cac>Aac	p.H351N	NR2C1_uc010suu.1_Missense_Mutation_p.H351N|NR2C1_uc001tdn.4_Missense_Mutation_p.H351N|NR2C1_uc001tdo.4_Missense_Mutation_p.H351N	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	351					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GTGATTAGGTGTACACTTCCT	0.443													T	95442924	G	T	95442924	3	4	93	1	0	0	0	0	1	0	0	0	10622	1377	48	5	862	5	NR2C1	12	95442924	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	9992403	95442924	38408971	44	6091											
ELK3	2004	broad.mit.edu	37	12	96640864	96640864	+	Silent	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:96640864C>T	uc001teo.1	+	2	633	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	118					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTCCGGAGGGCCGCGAGGCCC	0.612													T	96640864	C	T	96640864	2	4	93	1	0	0	0	0	0	0	0	1	5060	726	26	3		3	ELK3	12	96640864	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08	1197940	96640864	37211031	45	6092											
TPTE2	93492	broad.mit.edu	37	13	20039439	20039439	+	Missense_Mutation	SNP	C	C	T	rs146223410		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr13:20039439C>T	uc001umd.3	-	9	843	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R100Q|TPTE2_uc001ume.3_Missense_Mutation_p.R134Q|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	211	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R134Q(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTGTGTATCGCCTTTTGTT	0.308													T	20039439	C	T	20039439	3	4	93	1	0	0	0	0	1	0	0	0	16428	884	31	2	984	2	TPTE2	13	20039439	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		20039439	95130439	46	6093											
GZMB	3002	broad.mit.edu	37	14	25102156	25102156	+	Silent	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr14:25102156G>A	uc001wps.2	-	1	234	c.168C>T	c.(166-168)gaC>gaT	p.D56D	GZMB_uc010ama.2_Silent_p.D44D|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	56	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GCACGAAGTCGTCTCGTATCA	0.572													A	25102156	G	A	25102156	2	1	93	1	0	0	0	0	0	0	0	1	6916	1136	40	1		1	GZMB	14	25102156	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08		25102156	82247384	47	6094											
RYR3	6263	broad.mit.edu	37	15	34137199	34137199	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr15:34137199G>T	uc001zhi.3	+	92	13503	c.13433G>T	c.(13432-13434)cGt>cTt	p.R4478L	RYR3_uc010bar.3_Missense_Mutation_p.R4473L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4478					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)		CCAACCCTGCGTGCCCTGGCC	0.502													T	34137199	G	T	34137199	3	4	93	1	0	0	0	0	1	0	0	0	13770	1145	40	5	13803	5	RYR3	15	34137199	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		34137199	68394193	48	6095											
LACTB	114294	broad.mit.edu	37	15	63433763	63433763	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr15:63433763A>G	uc002alw.3	+	5	1475	c.1403A>G	c.(1402-1404)gAa>gGa	p.E468G		NM_032857	NP_116246	P83111	LACTB_HUMAN	Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	468						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GGTGTTGTGGAAAGGAAACAA	0.483													G	63433763	A	G	63433763	3	3	93	1	0	0	0	0	1	0	0	0	8597	246	9	4	1429	4	LACTB	15	63433763	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	29296564	63433763	39097629	49	6096											
BAIAP3	8938	broad.mit.edu	37	16	1392020	1392020	+	Silent	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr16:1392020G>A	uc002clk.2	+	9	1073	c.915G>A	c.(913-915)gcG>gcA	p.A305A	BAIAP3_uc010uuz.2_Silent_p.A270A|BAIAP3_uc010uva.2_Silent_p.A242A|BAIAP3_uc021tag.1_Silent_p.A247A|BAIAP3_uc002clj.3_Silent_p.A287A|BAIAP3_uc010uvb.2_Silent_p.A322A|BAIAP3_uc010uvc.1_Silent_p.A270A	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	305	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGTAGAAGCGTGCAGGAAGC	0.617													A	1392020	G	A	1392020	2	1	93	1	0	0	0	0	0	0	0	1	1304	1132	40	1		1	BAIAP3	16	1392020	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08		1392020	88962733	50	6097											
PPL	5493	broad.mit.edu	37	16	4952435	4952435	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr16:4952435T>C	uc002cyd.1	-	3	500	c.410A>G	c.(409-411)aAc>aGc	p.N137S		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	137					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCCGCCCAGTTGACCTGTGG	0.637													C	4952435	T	C	4952435	3	2	93	1	0	0	0	0	1	0	0	0	12334	1725	60	4	4936	4	PPL	16	4952435	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	3560415	4952435	85402318	51	6098											
TP53	7157	broad.mit.edu	37	17	7577517	7577517	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:7577517A>C	uc002gim.2	-	6	958	c.764T>G	c.(763-765)aTc>aGc	p.I255S	TP53_uc002gig.1_Missense_Mutation_p.I255S|TP53_uc002gih.3_Missense_Mutation_p.I255S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I123S|TP53_uc010cnf.1_Missense_Mutation_p.I123S|TP53_uc002gii.1_Missense_Mutation_p.I123S|TP53_uc010cni.1_Missense_Mutation_p.I255S|TP53_uc010cnh.1_Missense_Mutation_p.I255S|TP53_uc002gij.2_Missense_Mutation_p.I255S|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I162S|TP53_uc002gio.2_Missense_Mutation_p.I123S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> 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.I255S(18)|p.I255F(18)|p.I255del(14)|p.I255T(14)|p.I255N(14)|p.0?(8)|p.I254F(7)|p.I254S(6)|p.I254V(5)|p.I254fs*10(5)|p.L252_I254delLTI(4)|p.I255fs*90(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I254del(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.I255fs*8(2)|p.I255I(2)|p.I254I(1)|p.?(1)|p.I254fs*91(1)|p.I255M(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)		TTCCAGTGTGATGATGGTGAG	0.582		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)			C	7577517	A	C	7577517	3	2	93	1	0	0	0	0	1	0	0	0	16378	333	12	5	526	5	TP53	17	7577517	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08		7577517	73617693	52	6099											
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			A	7578263	G	A	7578263	4	1	93	1	0	0	0	0	0	1	0	0	16378	1124	39	2	708	2	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	746	7578263	73616947	53	6100											
POLDIP2	26073	broad.mit.edu	37	17	26675209	26675209	+	Silent	SNP	C	C	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:26675209C>A	uc002haz.3	-	11	1165	c.1035G>T	c.(1033-1035)cgG>cgT	p.R345R	POLDIP2_uc010wag.2_Non-coding_Transcript	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	347	ApaG.					mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGGGAGGAATCCGAACATCAA	0.547													A	26675209	C	A	26675209	2	1	93	1	0	0	0	0	0	0	0	1	12194	842	30	5		5	POLDIP2	17	26675209	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08	19096946	26675209	54520001	54	6101											
CDK12	51755	broad.mit.edu	37	17	37618715	37618716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:37618715_37618716insA	uc010cvv.3	+	0	977_978	c.391_392insA	c.(391-393)gaafs	p.E131fs	CDK12_uc010wef.1_Frame_Shift_Ins_p.E131fs|CDK12_uc002hrw.4_Frame_Shift_Ins_p.E131fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	131					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GACCGAAAAAGAAAAAAGCCAA	0.52			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			A	37618716	-	A	37618715	7	5	93	1	0	1	1	0	0	0	0	0	3128	943	33	0	393	0	CDK12	17	37618715	Frame_Shift_Ins	INS	-	TCGA-06-5417-01A-01D-1486-08	10943506	37618715	43576495	55	6102											
ZNF544	27300	broad.mit.edu	37	19	58772645	58772645	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr19:58772645A>C	uc010euo.3	+	6	1147	c.673A>C	c.(673-675)Agt>Cgt	p.S225R	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.S197R|ZNF544_uc010yhy.2_Missense_Mutation_p.S197R|ZNF544_uc002qrt.4_Missense_Mutation_p.S83R|ZNF544_uc002qru.4_Missense_Mutation_p.S83R|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTTCTGTCAGAGTATTTACTT	0.378													C	58772645	A	C	58772645	3	2	93	1	0	0	0	0	1	0	0	0	17974	304	11	5	687	5	ZNF544	19	58772645	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08		58772645	356338	56	6103											
PANX2	56666	broad.mit.edu	37	22	50615879	50615879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr22:50615879C>A	uc003bjn.4	+	1	738	c.738C>A	c.(736-738)tgC>tgA	p.C246*	PANX2_uc003bjp.4_Nonsense_Mutation_p.C112*|PANX2_uc003bjo.4_Nonsense_Mutation_p.C246*	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	246					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCTACCTGTGCACCTACTACG	0.706													A	50615879	C	A	50615879	4	1	93	1	0	0	0	0	0	1	0	0	11421	718	25	5	744	5	PANX2	22	50615879	Nonsense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		50615879	688687	57	6104											
GEMIN8	54960	broad.mit.edu	37	X	14027172	14027172	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:14027172G>A	uc004cwb.3	-	4	932	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	GEMIN8_uc004cwc.3_Missense_Mutation_p.R197C|GEMIN8_uc004cwd.3_Missense_Mutation_p.R197C	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.	197					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TCGGCCTGGCGCCGCTCACCA	0.612													A	14027172	G	A	14027172	3	1	93	1	0	0	0	0	1	0	0	0	6334	1087	38	1	143	1	GEMIN8	23	14027172	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		14027172	141243388	58	6105											
ZNF645	158506	broad.mit.edu	37	X	22292090	22292090	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:22292090A>T	uc004dai.2	+	0	1061	c.982A>T	c.(982-984)Att>Ttt	p.I328F		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	328	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGATATATTATTGTAAAGGT	0.438													T	22292090	A	T	22292090	3	4	93	1	0	0	0	0	1	0	0	0	18058	449	16	5	984	5	ZNF645	23	22292090	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	8264918	22292090	132978470	59	6106											
CXorf22	170063	broad.mit.edu	37	X	35985840	35985840	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:35985840C>T	uc004ddj.3	+	9	1771	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	569										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGCCATGACACGCACTCACAA	0.453													T	35985840	C	T	35985840	3	4	93	1	0	0	0	0	1	0	0	0	4102	536	19	1	1743	1	CXorf22	23	35985840	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	13693750	35985840	119284720	60	6107											
EFHC2	80258	broad.mit.edu	37	X	44037748	44037748	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:44037748C>A	uc004dgb.4	-	11	1903	c.1814G>T	c.(1813-1815)cGt>cTt	p.R605L	EFHC2_uc022bvg.1_Missense_Mutation_p.R183L	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	605							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ACGGTAGTGACGTGCAATGGT	0.373													A	44037748	C	A	44037748	3	1	93	1	0	0	0	0	1	0	0	0	4947	536	19	5	451	5	EFHC2	23	44037748	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	8051908	44037748	111232812	61	6108											
ZNF674	641339	broad.mit.edu	37	X	46388335	46388335	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:46388335T>C	uc004dgr.3	-	3	252	c.25A>G	c.(25-27)Acc>Gcc	p.T9A	ZNF674_uc011mlg.2_Missense_Mutation_p.T9A|ZNF674_uc022bvl.1_Missense_Mutation_p.T9A|ZNF674_uc010nhm.2_Missense_Mutation_p.T9A	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TCCTTGAAGGTCAATGATTCC	0.552													C	46388335	T	C	46388335	3	2	93	1	0	0	0	0	1	0	0	0	18078	1667	58	4	1732	4	ZNF674	23	46388335	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	2350587	46388335	108882225	62	6109											
CCDC120	90060	broad.mit.edu	37	X	48920041	48920041	+	Missense_Mutation	SNP	G	G	A	rs147084360		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:48920041G>A	uc011mmr.2	+	3	384	c.92G>A	c.(91-93)cGt>cAt	p.R31H	CCDC120_uc010nik.3_Missense_Mutation_p.R31H|CCDC120_uc011mmq.2_Missense_Mutation_p.R19H|CCDC120_uc004dmf.3_Missense_Mutation_p.R31H|CCDC120_uc010nil.3_Missense_Mutation_p.R31H|CCDC120_uc011mms.2_Missense_Mutation_p.R19H|CCDC120_uc004dmg.1_Silent_p.A109A	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN	Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.	31							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AAGTCAGAGCGTCTGCGGGGG	0.647													A	48920041	G	A	48920041	3	1	93	1	0	0	0	0	1	0	0	0	2756	1145	40	1	98	1	CCDC120	23	48920041	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	2531706	48920041	106350519	63	6110											
LAS1L	81887	broad.mit.edu	37	X	64737941	64737941	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:64737941G>T	uc004dwa.2	-	11	1944	c.1853C>A	c.(1852-1854)cCc>cAc	p.P618H	LAS1L_uc004dwc.2_Missense_Mutation_p.P601H|LAS1L_uc004dwd.2_Missense_Mutation_p.P559H|LAS1L_uc004dvz.2_Missense_Mutation_p.P131H|LAS1L_uc004dvy.1_Missense_Mutation_p.P131H	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	618						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCGGCAGTGGGGGACTCTTG	0.517													T	64737941	G	T	64737941	3	4	93	1	0	0	0	0	1	0	0	0	8636	1232	43	5	363	5	LAS1L	23	64737941	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	15817900	64737941	90532619	64	6111											
STARD8	9754	broad.mit.edu	37	X	67943638	67943638	+	Silent	SNP	C	C	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:67943638C>G	uc004dxb.3	+	12	3184	c.2970C>G	c.(2968-2970)gtC>gtG	p.V990V	STARD8_uc004dxa.3_Silent_p.V910V|STARD8_uc004dxc.4_Silent_p.V910V	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	910	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACCACTATGTCACCGACAGCA	0.652													G	67943638	C	G	67943638	2	3	93	1	0	0	0	0	0	0	0	1	15262	813	29	5		5	STARD8	23	67943638	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08	3205697	67943638	87326922	65	6112											
ZMYM3	9203	broad.mit.edu	37	X	70469372	70469372	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:70469372A>G	uc004dzh.2	-	6	1588	c.1409T>C	c.(1408-1410)cTc>cCc	p.L470P	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.L470P|ZMYM3_uc004dzj.2_Missense_Mutation_p.L470P|ZMYM3_uc011mpu.2_Missense_Mutation_p.L201P|ZMYM3_uc004dzl.4_Missense_Mutation_p.L470P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	470					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCGTGGAAGAGGAGCTCAGG	0.562													G	70469372	A	G	70469372	3	3	93	1	0	0	0	0	1	0	0	0	17698	304	11	4	2797	4	ZMYM3	23	70469372	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	2525734	70469372	84801188	66	6113											
ATRX	546	broad.mit.edu	37	X	76778818	76778818	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:76778818T>C	uc004ecp.4	-	30	6993	c.6761A>G	c.(6760-6762)cAt>cGt	p.H2254R	ATRX_uc004ecq.4_Missense_Mutation_p.H2216R|ATRX_uc004eco.4_Missense_Mutation_p.H2039R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2254					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.H2254R(2)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAGAGAATCATGTTCATGGTA	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76778818	T	C	76778818	3	2	93	1	0	0	0	0	1	0	0	0	1208	1464	51	4	737	4	ATRX	23	76778818	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	6309446	76778818	78491742	67	6114											
HDX	139324	broad.mit.edu	37	X	83724095	83724095	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:83724095delC	uc011mqv.2	-	3	883	c.636delG	c.(634-636)aagfs	p.K212fs	HDX_uc004eel.2_Frame_Shift_Del_p.K154fs|HDX_uc004eek.2_Frame_Shift_Del_p.K212fs	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACACAGAAGGCTTTTGAGGTA	0.418													-	83724095	C	-	83724095	7	5	93	1	0	1	0	1	0	0	0	0	7026	796	28	0	1468	0	HDX	23	83724095	Frame_Shift_Del	DEL	C	TCGA-06-5417-01A-01D-1486-08	6945277	83724095	71546465	68	6115											
COL4A5	1287	broad.mit.edu	37	X	107840792	107840792	+	Silent	SNP	A	A	G			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:107840792A>G	uc022ccg.1	+	23	1975	c.1773A>G	c.(1771-1773)ggA>ggG	p.G591G	COL4A5_uc004enz.1_Silent_p.G591G|COL4A5_uc004eob.1_Silent_p.G199G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	591	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCCGAAAGGAGAGCCTGTGA	0.463									Alport syndrome with Diffuse Leiomyomatosis				G	107840792	A	G	107840792	2	3	93	1	0	0	0	0	0	0	0	1	3694	291	11	4		4	COL4A5	23	107840792	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	24116697	107840792	47429768	69	6116											
GUCY2F	2986	broad.mit.edu	37	X	108708484	108708484	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:108708484C>T	uc022cch.1	-	1	1004	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.A307T	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	307					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			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCATCATAGGCTTCCCGGAGC	0.488													T	108708484	C	T	108708484	3	4	93	1	0	0	0	0	1	0	0	0	6898	797	28	3	2475	3	GUCY2F	23	108708484	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	867692	108708484	46562076	70	6117											
GPR153	387509	broad.mit.edu	37	1	6311445	6311445	+	Missense_Mutation	SNP	C	C	T	rs139457263		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:6311445C>T	uc001amp.2	-	3	1192	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCACTTCTCCCGGACAGCTTT	0.637													T	6311445	C	T	6311445	3	4	94	1	0	0	0	0	1	0	0	0	6659	652	23	2	909	2	GPR153	1	6311445	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		6311445	242939176	1	6118											
DMBX1	127343	broad.mit.edu	37	1	46976764	46976764	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:46976764G>A	uc001cpx.3	+	2	521	c.506G>A	c.(505-507)cGt>cAt	p.R169H	DMBX1_uc001cpw.3_Missense_Mutation_p.R164H	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	169					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R169H(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CAGCCCCCACGTCTGCCTGGC	0.652													A	46976764	G	A	46976764	3	1	94	1	0	0	0	0	1	0	0	0	4578	1145	40	1	516	1	DMBX1	1	46976764	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	40665319	46976764	202273857	2	6119											
TCHH	7062	broad.mit.edu	37	1	152081245	152081245	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:152081245C>T	uc009wne.1	-	2	4720	c.4448G>A	c.(4447-4449)cGt>cAt	p.R1483H	TCHH_uc001ezp.2_Missense_Mutation_p.R1483H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1483	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTCACGCTCTTGGCG	0.557													T	152081245	C	T	152081245	3	4	94	1	0	0	0	0	1	0	0	0	15697	536	19	1	1387	1	TCHH	1	152081245	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	105104481	152081245	97169376	3	6120											
F5	2153	broad.mit.edu	37	1	169509611	169509611	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:169509611G>A	uc001ggg.1	-	12	4862	c.4717C>T	c.(4717-4719)Cgc>Tgc	p.R1573C		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1573	B.	Cleavage; by thrombin.			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTGTTGCTGCGGAGGTACCAT	0.398													A	169509611	G	A	169509611	3	1	94	1	0	0	0	0	1	0	0	0	5348	1116	39	2	2009	2	F5	1	169509611	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	17428366	169509611	79741010	4	6121											
IPO9	55705	broad.mit.edu	37	1	201823997	201823997	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:201823997C>T	uc001gwz.3	+	7	907	c.857C>T	c.(856-858)tCc>tTc	p.S286F		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	286					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGGTGTCCTCCATGCAGCAG	0.403													T	201823997	C	T	201823997	3	4	94	1	0	0	0	0	1	0	0	0	7799	855	30	3	887	3	IPO9	1	201823997	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	32314386	201823997	47426624	5	6122											
ABCG5	64240	broad.mit.edu	37	2	44065792	44065792	+	Silent	SNP	G	G	A	rs72542428		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:44065792G>A	uc002rtn.3	-	0	167	c.27C>T	c.(25-27)ccC>ccT	p.P9P	ABCG5_uc002rto.3_5'UTR|ABCG5_uc002rtp.3_5'UTR|ABCG8_uc002rtq.3_5'Flank|ABCG8_uc010yoa.2_5'Flank	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	9					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			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGACCCTCCGGGGGTCAAAG	0.637													A	44065792	G	A	44065792	2	1	94	1	0	0	0	0	0	0	0	1	71	1103	39	2		2	ABCG5	2	44065792	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08		44065792	199133581	6	6123											
SPTBN1	6711	broad.mit.edu	37	2	54856719	54856719	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:54856719G>A	uc002rxu.3	+	13	2697	c.2448G>A	c.(2446-2448)gaG>gaA	p.E816E	SPTBN1_uc002rxv.1_Silent_p.E816E|SPTBN1_uc002rxx.3_Silent_p.E803E	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	816					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCATGCCGAGTCTCCAGACG	0.627													A	54856719	G	A	54856719	2	1	94	1	0	0	0	0	0	0	0	1	15118	1020	36	3		3	SPTBN1	2	54856719	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08	10790927	54856719	188342654	7	6124											
GTDC1	79712	broad.mit.edu	37	2	144899603	144899603	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:144899603C>T	uc002tvp.3	-	5	646	c.367G>A	c.(367-369)Gta>Ata	p.V123I	GTDC1_uc002tvo.3_Missense_Mutation_p.V123I|GTDC1_uc021vqf.1_Missense_Mutation_p.V123I|GTDC1_uc010fnn.3_Missense_Mutation_p.V123I|GTDC1_uc002tvs.3_Missense_Mutation_p.V91I|GTDC1_uc021vqg.1_Missense_Mutation_p.V123I|GTDC1_uc002tvr.3_Missense_Mutation_p.V123I|GTDC1_uc010fno.3_5'UTR|GTDC1_uc002tvt.2_Missense_Mutation_p.V123I	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	123					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GAGTTGAATACAACCACATCA	0.383													T	144899603	C	T	144899603	3	4	94	1	0	0	0	0	1	0	0	0	6851	478	17	3	1037	3	GTDC1	2	144899603	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	90042884	144899603	98299770	8	6125											
GALNT3	2591	broad.mit.edu	37	2	166627133	166627133	+	Silent	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:166627133T>C	uc010fph.1	-	1	465	c.78A>G	c.(76-78)gtA>gtG	p.V26V	GALNT3_uc010fpi.1_Silent_p.V26V|GALNT3_uc002udi.2_Silent_p.V26V	NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	26					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGAAAAAAATTACTGCACCAA	0.313													C	166627133	T	C	166627133	2	2	94	1	0	0	0	0	0	0	0	1	6214	1741	61	4		4	GALNT3	2	166627133	Silent	SNP	T	TCGA-06-5418-01A-01D-1486-08	21727530	166627133	76572240	9	6126											
TLK1	9874	broad.mit.edu	37	2	171902709	171902710	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:171902709_171902710insGG	uc002ugo.2	-	11	1678_1679	c.1206_1207insCC	c.(1204-1209)ccctttfs	p.P402fs	TLK1_uc002ugn.2_Frame_Shift_Ins_p.P381fs|TLK1_uc002ugp.2_Frame_Shift_Ins_p.P333fs|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Frame_Shift_Ins_p.P285fs|TLK1_uc002ugr.1_Frame_Shift_Ins_p.P164fs	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.	381					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			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						GGTCTAACAAAGGGATCATTCT	0.366													GG	171902710	-	GG	171902709	7	5	94	1	0	1	1	0	0	0	0	0	15940	72	3	0	1200	0	TLK1	2	171902709	Frame_Shift_Ins	INS	-	TCGA-06-5418-01A-01D-1486-08	5275576	171902709	71296664	10	6127											
CAMK1	8536	broad.mit.edu	37	3	9799491	9799491	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:9799491T>A	uc003bst.3	-	10	1137	c.952A>T	c.(952-954)Aaa>Taa	p.K318*	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Nonsense_Mutation_p.K92*|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	318					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGCTGCAGTTTCCTCATGTGC	0.612													A	9799491	T	A	9799491	4	1	94	1	0	0	0	0	0	1	0	0	2596	1792	62	5	168	5	CAMK1	3	9799491	Nonsense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08		9799491	188222939	11	6128											
VHL	7428	broad.mit.edu	37	3	10183867	10183867	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:10183867C>T	uc003bvc.3	+	0	549	c.336C>T	c.(334-336)taC>taT	p.Y112Y	VHL_uc003bvd.3_Silent_p.Y112Y	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	112	Involved in binding to CCT complex.		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.S111N(5)|p.Y112*(4)|p.Y112fs*1(4)|p.S111R(3)|p.S111S(2)|p.S111fs*48(2)|p.I109_R113del(2)|p.S111fs*45(2)|p.S111G(2)|p.S111I(2)|p.S111_Y112del(2)|p.S111fs*49(1)|p.?(1)|p.Y112D(1)|p.S111fs*22(1)|p.R113fs*46(1)|p.H110_S111del(1)|p.Y112fs*47(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCCACAGCTACCGAGGTACGG	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				T	10183867	C	T	10183867	2	4	94	1	0	0	0	0	0	0	0	1	17159	518	18	3		3	VHL	3	10183867	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	384376	10183867	187838563	12	6129											
OR5K1	26339	broad.mit.edu	37	3	98188932	98188932	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:98188932C>T	uc003dsm.3	+	0	512	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171L(2)|p.G170A(1)|p.S171T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGGATCGAATCACATC	0.398													T	98188932	C	T	98188932	3	4	94	1	0	0	0	0	1	0	0	0	11166	893	31	2	514	2	OR5K1	3	98188932	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	88005065	98188932	99833498	13	6130											
FSTL1	11167	broad.mit.edu	37	3	120123732	120123732	+	Silent	SNP	C	C	T	rs138829728	by1000genomes	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:120123732C>T	uc003eds.3	-	6	724	c.549G>A	c.(547-549)acG>acA	p.T183T	FSTL1_uc011bjh.2_Silent_p.T148T	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	183					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GGTCTGGATACGTTGTAATAT	0.448													T	120123732	C	T	120123732	2	4	94	1	0	0	0	0	0	0	0	1	6077	523	19	1		1	FSTL1	3	120123732	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	21934800	120123732	77898698	14	6131											
IGSF10	285313	broad.mit.edu	37	3	151166049	151166049	+	Missense_Mutation	SNP	C	C	T	rs116716539	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:151166049C>T	uc011bod.2	-	3	1720	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	574	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATAGGCTTCGACCAAAGGT	0.413													T	151166049	C	T	151166049	3	4	94	1	0	0	0	0	1	0	0	0	7597	893	31	2	6211	2	IGSF10	3	151166049	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	31042317	151166049	46856381	15	6132											
TMEM156	80008	broad.mit.edu	37	4	39000377	39000377	+	Missense_Mutation	SNP	G	G	A	rs13118782		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:39000377G>A	uc003gto.3	-	1	349	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	TMEM156_uc010ifj.3_Missense_Mutation_p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	81						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGAAGTTACGAAAATTGGAG	0.368													A	39000377	G	A	39000377	3	1	94	1	0	0	0	0	1	0	0	0	16070	1058	37	2	669	2	TMEM156	4	39000377	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		39000377	152153899	16	6133											
UGT2B7	7364	broad.mit.edu	37	4	69973993	69973993	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:69973993G>A	uc003heg.4	+	4	1309	c.1263G>A	c.(1261-1263)tcG>tcA	p.S421S	UGT2B7_uc010ihq.3_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	421					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACACAATGTCGAGTACAGACT	0.423													A	69973993	G	A	69973993	2	1	94	1	0	0	0	0	0	0	0	1	16959	1045	37	2		2	UGT2B7	4	69973993	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08	30973616	69973993	121180283	17	6134											
TRPC3	7222	broad.mit.edu	37	4	122833104	122833104	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:122833104G>C	uc003ieg.2	-	4	1560	c.1486C>G	c.(1486-1488)Ccc>Gcc	p.P496A	TRPC3_uc010inr.2_Missense_Mutation_p.P368A|TRPC3_uc003ief.2_Missense_Mutation_p.P423A|TRPC3_uc011cgl.1_Missense_Mutation_p.P160A	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	411					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			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						ATCTGTTTGGGATAGTCAGTA	0.423													C	122833104	G	C	122833104	3	2	94	1	0	0	0	0	1	0	0	0	16576	1174	41	5	1311	5	TRPC3	4	122833104	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	52859111	122833104	68321172	18	6135											
TBC1D9	23158	broad.mit.edu	37	4	141600954	141600954	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:141600954T>A	uc010ioj.3	-	3	676	c.404A>T	c.(403-405)gAt>gTt	p.D135V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	135						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGTGTCATCATCTTCCTTTAC	0.368													A	141600954	T	A	141600954	3	1	94	1	0	0	0	0	1	0	0	0	15624	1435	50	5	3468	5	TBC1D9	4	141600954	Missense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08	18767850	141600954	49553322	19	6136											
TERT	7015	broad.mit.edu	37	5	1260707	1260707	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:1260707C>T	uc003jcb.1	-	11	2910	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q	TERT_uc003jbz.1_Missense_Mutation_p.R147Q|TERT_uc003jcc.1_Missense_Mutation_p.R888Q|TERT_uc003jca.1_Missense_Mutation_p.R939Q|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.R103Q	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	951	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATGGAGGTCCGGGCATAGCT	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				T	1260707	C	T	1260707	3	4	94	1	0	0	0	0	1	0	0	0	15761	652	23	2	566	2	TERT	5	1260707	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		1260707	179654553	20	6137											
ZNF366	167465	broad.mit.edu	37	5	71752388	71752388	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:71752388C>T	uc003kce.1	-	2	1553	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGTGAACTCCCGCCCACAAAT	0.527													T	71752388	C	T	71752388	3	4	94	1	0	0	0	0	1	0	0	0	17867	652	23	2	879	2	ZNF366	5	71752388	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	70491681	71752388	109162872	21	6138											
GABRB2	2561	broad.mit.edu	37	5	160753407	160753407	+	Missense_Mutation	SNP	G	G	A	rs140795978		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:160753407G>A	uc003lys.1	-	9	1377	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	387					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ttggtagtccgtctagttggg	0.383													A	160753407	G	A	160753407	3	1	94	1	0	0	0	0	1	0	0	0	6167	1144	40	1	387	1	GABRB2	5	160753407	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	89001019	160753407	20161853	22	6139											
PKHD1	5314	broad.mit.edu	37	6	51941108	51941108	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr6:51941108G>A	uc003pah.1	-	5	690	c.414C>T	c.(412-414)atC>atT	p.I138I	PKHD1_uc003pai.3_Silent_p.I138I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	138	IPT/TIG 2.				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			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)					CTTGGTGAACGATGGGTGTCT	0.393													A	51941108	G	A	51941108	2	1	94	1	0	0	0	0	0	0	0	1	11971	1048	37	2		2	PKHD1	6	51941108	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08		51941108	119173959	23	6140											
KCNQ5	56479	broad.mit.edu	37	6	73843328	73843328	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr6:73843328C>T	uc011dyh.2	+	10	1836	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	KCNQ5_uc011dyi.2_Missense_Mutation_p.R488C|KCNQ5_uc010kat.3_Missense_Mutation_p.R469C|KCNQ5_uc003pgk.3_Missense_Mutation_p.R478C|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.R228C	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	478					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCCCTCGCTGCGCCTCAAAAG	0.512													T	73843328	C	T	73843328	3	4	94	1	0	0	0	0	1	0	0	0	8086	768	27	1	1531	1	KCNQ5	6	73843328	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	21902220	73843328	97271739	24	6141											
MACC1	346389	broad.mit.edu	37	7	20199376	20199376	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:20199376C>G	uc003sus.4	-	4	917	c.608G>C	c.(607-609)gGa>gCa	p.G203A	MACC1_uc010kug.3_Missense_Mutation_p.G203A	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	203					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGGGCCCATCCAGGGCTCTG	0.473													G	20199376	C	G	20199376	3	3	94	1	0	0	0	0	1	0	0	0	9143	855	30	5	1962	5	MACC1	7	20199376	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		20199376	138939287	25	6142											
AMPH	273	broad.mit.edu	37	7	38471801	38471801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:38471801C>T	uc003tgu.3	-	12	1362	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	AMPH_uc003tgv.3_Nonsense_Mutation_p.W382*|AMPH_uc003tgt.3_Nonsense_Mutation_p.W135*|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	382					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.W382*(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCATAGGTCCCAGGGCAATG	0.318													T	38471801	C	T	38471801	4	4	94	1	0	0	0	0	0	1	0	0	588	624	22	3	977	3	AMPH	7	38471801	Nonsense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	18272425	38471801	120666862	26	6143											
ADCY1	107	broad.mit.edu	37	7	45717648	45717648	+	Missense_Mutation	SNP	G	G	A	rs147187783		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:45717648G>A	uc003tne.4	+	8	1804	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	596					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAAACATGTCGAACGGGAGCA	0.557													A	45717648	G	A	45717648	3	1	94	1	0	0	0	0	1	0	0	0	292	1059	37	2	1820	2	ADCY1	7	45717648	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	7245847	45717648	113421015	27	6144											
POM121L12	285877	broad.mit.edu	37	7	53103406	53103406	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:53103406C>T	uc003tpz.3	+	0	58	c.42C>T	c.(40-42)aaC>aaT	p.N14N		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	14										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCTCGGGAACTTCTGGAAGG	0.706													T	53103406	C	T	53103406	2	4	94	1	0	0	0	0	0	0	0	1	12241	564	20	3		3	POM121L12	7	53103406	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	7385758	53103406	106035257	28	6145											
FKBP6	8468	broad.mit.edu	37	7	72744235	72744235	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:72744235C>T	uc003tya.2	+	3	480	c.348C>T	c.(346-348)taC>taT	p.Y116Y	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.Y111Y|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	116	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AACCGAACTACGCCTATGGAA	0.537													T	72744235	C	T	72744235	2	4	94	1	0	0	0	0	0	0	0	1	5912	547	19	1		1	FKBP6	7	72744235	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	19640829	72744235	86394428	29	6146											
MUC17	140453	broad.mit.edu	37	7	100680821	100680821	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:100680821C>T	uc003uxp.1	+	2	6177	c.6124C>T	c.(6124-6126)Cgg>Tgg	p.R2042W	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2042	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.R2042W(2)|p.E2041K(1)|p.R2042L(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)					TCCTAGTGAACGGACCACTCC	0.502													T	100680821	C	T	100680821	3	4	94	1	0	0	0	0	1	0	0	0	9974	527	19	1	6134	1	MUC17	7	100680821	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	27936586	100680821	58457842	30	6147											
PIK3CG	5294	broad.mit.edu	37	7	106508855	106508855	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:106508855C>T	uc003vdv.4	+	1	934	c.849C>T	c.(847-849)ggC>ggT	p.G283G	PIK3CG_uc003vdu.3_Silent_p.G283G|PIK3CG_uc003vdw.3_Silent_p.G283G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	283					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.G283G(2)		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						ACCTGGTGGGCGAAACGCCCA	0.552													T	106508855	C	T	106508855	2	4	94	1	0	0	0	0	0	0	0	1	11916	755	27	1		1	PIK3CG	7	106508855	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	5828034	106508855	52629808	31	6148											
PTDSS1	9791	broad.mit.edu	37	8	97345772	97345772	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr8:97345772C>G	uc003yht.1	+	12	1502	c.1400C>G	c.(1399-1401)aCc>aGc	p.T467S	PTDSS1_uc003yhu.1_Missense_Mutation_p.T321S	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	467					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCAAAAGTCACCAATGGCGTT	0.473											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	97345772	C	G	97345772	3	3	94	1	0	0	0	0	1	0	0	0	12736	507	18	5	1450	5	PTDSS1	8	97345772	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		97345772	49018250	32	6149											
ACTL7B	10880	broad.mit.edu	37	9	111617172	111617172	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:111617172T>C	uc004bdi.3	-	0	1104	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	347						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCATCCAGCATAGTGCAGCCG	0.682													C	111617172	T	C	111617172	3	2	94	1	0	0	0	0	1	0	0	0	201	1406	49	4	212	4	ACTL7B	9	111617172	Missense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08		111617172	29596259	33	6150											
ZNF618	114991	broad.mit.edu	37	9	116798608	116798608	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:116798608delC	uc004bid.3	+	12	1296	c.1197delC	c.(1195-1197)atcfs	p.I399fs	ZNF618_uc004bic.3_Frame_Shift_Del_p.I306fs|ZNF618_uc011lxi.2_Frame_Shift_Del_p.I366fs|ZNF618_uc011lxj.2_Frame_Shift_Del_p.I367fs|ZNF618_uc010mvb.3_5'UTR	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CCTGTGGGATCCAGTTCCAGT	0.582													-	116798608	C	-	116798608	7	5	94	1	0	1	0	1	0	0	0	0	18039	845	30	0	964	0	ZNF618	9	116798608	Frame_Shift_Del	DEL	C	TCGA-06-5418-01A-01D-1486-08	5181436	116798608	24414823	34	6151											
SCAI	286205	broad.mit.edu	37	9	127781214	127781214	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:127781214A>G	uc004bpd.3	-	9	916	c.794T>C	c.(793-795)gTa>gCa	p.V265A	SCAI_uc004bpe.3_Missense_Mutation_p.V242A|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	242					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ATCATTTAATACCATTACAGG	0.393													G	127781214	A	G	127781214	3	3	94	1	0	0	0	0	1	0	0	0	13869	391	14	4	1135	4	SCAI	9	127781214	Missense_Mutation	SNP	A	TCGA-06-5418-01A-01D-1486-08	10982606	127781214	13432217	35	6152											
LAMC3	10319	broad.mit.edu	37	9	133943586	133943586	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:133943586C>T	uc004caa.1	+	14	2813	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	905	Laminin EGF-like 9.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCCTGGCTTCTTCGACCTCC	0.667													T	133943586	C	T	133943586	2	4	94	1	0	0	0	0	0	0	0	1	8616	912	32	3		3	LAMC3	9	133943586	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	6162372	133943586	7269845	36	6153											
COL5A1	1289	broad.mit.edu	37	9	137623922	137623922	+	Silent	SNP	A	A	G			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:137623922A>G	uc004cfe.3	+	8	1720	c.1338A>G	c.(1336-1338)ggA>ggG	p.G446G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	446	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGATTGGAGGACCTCGGG	0.532													G	137623922	A	G	137623922	2	3	94	1	0	0	0	0	0	0	0	1	3696	291	11	4		4	COL5A1	9	137623922	Silent	SNP	A	TCGA-06-5418-01A-01D-1486-08	3680336	137623922	3589509	37	6154											
ADARB2	105	broad.mit.edu	37	10	1284215	1284215	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:1284215G>A	uc009xhq.3	-	4	1666	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	447	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.T447A(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTCCAGCTGCGTGTAGAGGAA	0.701													A	1284215	G	A	1284215	3	1	94	1	0	0	0	0	1	0	0	0	283	1145	40	1	903	1	ADARB2	10	1284215	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		1284215	134250532	38	6155											
PFKFB3	5209	broad.mit.edu	37	10	6265943	6265943	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:6265943C>T	uc001ije.3	+	11	1620	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C	PFKFB3_uc001ijd.3_Silent_p.C392C|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.C426C|PFKFB3_uc001ijf.3_Silent_p.C412C|PFKFB3_uc001ijg.3_5'Flank|PFKFB3_uc009xij.3_5'Flank|PFKFB3_uc009xik.3_5'Flank|PFKFB3_uc009xil.3_5'Flank	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	412	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.C412C(3)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ACCTGAAATGCCCTCTTCACA	0.547													T	6265943	C	T	6265943	2	4	94	1	0	0	0	0	0	0	0	1	11762	747	26	3		3	PFKFB3	10	6265943	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	4981728	6265943	129268804	39	6156											
PTEN	5728	broad.mit.edu	37	10	89711993	89711993	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:89711993C>T	uc001kfb.3	+	5	1643	c.611C>T	c.(610-612)cCa>cTa	p.P204L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	204	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.P204T(2)|p.Y27fs*1(2)|p.P204fs*17(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.I203fs*39(1)|p.G165_*404del(1)|p.P204S(1)|p.I203fs*18(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAAACTATTCCAATGTTCAGT	0.358		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89711993	C	T	89711993	3	4	94	1	0	0	0	0	1	0	0	0	12738	594	21	3	633	3	PTEN	10	89711993	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	83446050	89711993	45822754	40	6157											
DCLRE1A	9937	broad.mit.edu	37	10	115610208	115610208	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:115610208T>C	uc001law.2	-	1	1574	c.656A>G	c.(655-657)cAa>cGa	p.Q219R		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	219					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTATCAGTTTGGTTCTGATA	0.433								Other identified genes with known or suspected DNA repair function					C	115610208	T	C	115610208	3	2	94	1	0	0	0	0	1	0	0	0	4294	1812	63	4	2498	4	DCLRE1A	10	115610208	Missense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08	25898215	115610208	19924539	41	6158											
METTL12	751071	broad.mit.edu	37	11	62434124	62434124	+	Silent	SNP	T	T	C			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr11:62434124T>C	uc001nug.1	+	2	583	c.324T>C	c.(322-324)ttT>ttC	p.F108F	C11orf48_uc001nuf.3_Intron|METTL12_uc001nuh.3_Missense_Mutation_p.F150S|METTL12_uc010rmc.1_Non-coding_Transcript	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	Homo sapiens methyltransferase like 12 (METTL12), nuclear gene encoding mitochondrial protein, mRNA.	108						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GGGTGGACTTTTCTCCTGTGG	0.592													C	62434124	T	C	62434124	2	2	94	1	0	0	0	0	0	0	0	1	9496	1838	64	4		4	METTL12	11	62434124	Silent	SNP	T	TCGA-06-5418-01A-01D-1486-08		62434124	72572392	42	6159											
AICDA	57379	broad.mit.edu	37	12	8758006	8758006	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:8758006C>T	uc001qur.2	-	2	311	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	AICDA_uc001qup.1_Missense_Mutation_p.V73I|AICDA_uc001quq.1_Missense_Mutation_p.V73I|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	78					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	p.R77R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AACCAGGTGACGCGGTAGCAG	0.617													T	8758006	C	T	8758006	3	4	94	1	0	0	0	0	1	0	0	0	422	536	19	1	376	1	AICDA	12	8758006	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		8758006	125093889	43	6160											
AGAP2	116986	broad.mit.edu	37	12	58120988	58120988	+	Silent	SNP	G	G	A	rs145154021		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:58120988G>A	uc001spq.3	-	17	3105	c.3105C>T	c.(3103-3105)cgC>cgT	p.R1035R	AGAP2_uc001spp.3_Silent_p.R1034R|AGAP2_uc001spr.3_Silent_p.R679R|LOC100130776_uc001sps.4_Silent_p.A71A	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	1035	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CGTACTTGGCGCGAATCCACG	0.677											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58120988	G	A	58120988	2	1	94	1	0	0	0	0	0	0	0	1	368	1074	38	1		1	AGAP2	12	58120988	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08	49362982	58120988	75730907	44	6161											
USP15	9958	broad.mit.edu	37	12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:62785633_62785634insA	uc001src.2	+	16	2346_2347	c.2271_2272insA	c.(2269-2274)ttgaaafs	p.L757fs	USP15_uc001srb.2_Frame_Shift_Ins_p.L728fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	757					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277													A	62785634	-	A	62785633	7	5	94	1	0	1	1	0	0	0	0	0	17043	1281	45	0	2246	0	USP15	12	62785633	Frame_Shift_Ins	INS	-	TCGA-06-5418-01A-01D-1486-08	4664645	62785633	71066262	45	6162											
ZFHX3	463	broad.mit.edu	37	16	72832031	72832031	+	Missense_Mutation	SNP	G	G	A	rs144091993	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr16:72832031G>A	uc002fck.3	-	8	5223	c.4550C>T	c.(4549-4551)tCg>tTg	p.S1517L	ZFHX3_uc002fcl.3_Missense_Mutation_p.S603L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1517					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.S1517S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGAGCCCGAGTCTTCTTG	0.483													A	72832031	G	A	72832031	3	1	94	1	0	0	0	0	1	0	0	0	17631	1059	37	2	6569	2	ZFHX3	16	72832031	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		72832031	17522722	46	6163											
GEMIN4	50628	broad.mit.edu	37	17	649261	649261	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:649261G>T	uc002frs.1	-	1	2141	c.2022C>A	c.(2020-2022)ttC>ttA	p.F674L		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	674					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAGTCTGGATGAAGATCCTCA	0.537													T	649261	G	T	649261	3	4	94	1	0	0	0	0	1	0	0	0	6330	1281	45	5	1158	5	GEMIN4	17	649261	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		649261	80545949	47	6164											
DNAH2	146754	broad.mit.edu	37	17	7702526	7702526	+	Missense_Mutation	SNP	G	G	A	rs147918283		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:7702526G>A	uc002giu.1	+	54	8679	c.8665G>A	c.(8665-8667)Gtg>Atg	p.V2889M		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2889	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2888I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGCACATCGTGCTCTGCCT	0.597													A	7702526	G	A	7702526	3	1	94	1	0	0	0	0	1	0	0	0	4602	1145	40	1	8883	1	DNAH2	17	7702526	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	7053265	7702526	73492684	48	6165											
WNK4	65266	broad.mit.edu	37	17	40945618	40945618	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:40945618C>T	uc002ibj.3	+	11	2234	c.2166C>T	c.(2164-2166)aaC>aaT	p.N722N	WNK4_uc010wgx.2_Silent_p.N386N|WNK4_uc002ibk.1_Silent_p.N494N|WNK4_uc010wgy.1_Silent_p.N66N	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	722					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGTATATAACGAGTTCATTC	0.532													T	40945618	C	T	40945618	2	4	94	1	0	0	0	0	0	0	0	1	17377	535	19	1		1	WNK4	17	40945618	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	33243092	40945618	40249592	49	6166											
KIF16B	55614	broad.mit.edu	37	20	16337074	16337074	+	Silent	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:16337074G>A	uc002wpg.2	-	22	3681	c.3522C>T	c.(3520-3522)ggC>ggT	p.G1174G	KIF16B_uc002wpe.1_Silent_p.G556G|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.2_Silent_p.G1123G	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1174					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGGATTTGCGCCCAAAGAGC	0.493													A	16337074	G	A	16337074	2	1	94	1	0	0	0	0	0	0	0	1	8278	1074	38	1		1	KIF16B	20	16337074	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08		16337074	46688446	50	6167											
PARD6B	84612	broad.mit.edu	37	20	49366651	49366651	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:49366651G>A	uc002xvo.3	+	2	988	c.745G>A	c.(745-747)Gca>Aca	p.A249T		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	249	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AGTGAGACCGGCAAACCAGAG	0.448													A	49366651	G	A	49366651	3	1	94	1	0	0	0	0	1	0	0	0	11446	1203	42	3	755	3	PARD6B	20	49366651	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	33029577	49366651	13658869	51	6168											
ITGB2	3689	broad.mit.edu	37	21	46311847	46311847	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr21:46311847G>A	uc002zgd.2	-	9	1333	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	ITGB2_uc002zgf.3_Missense_Mutation_p.A430V|ITGB2_uc011afl.1_Missense_Mutation_p.A352V|ITGB2_uc010gpw.2_Missense_Mutation_p.A373V|ITGB2_uc002zgg.2_Missense_Mutation_p.A430V	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	430					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.R429W(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAAGCCCAGCGCCCGGATGAC	0.642													A	46311847	G	A	46311847	3	1	94	1	0	0	0	0	1	0	0	0	7894	1087	38	1	1044	1	ITGB2	21	46311847	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		46311847	1818048	52	6169											
PCBP3	54039	broad.mit.edu	37	21	47355174	47355174	+	Silent	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr21:47355174C>T	uc010gqb.3	+	13	1127	c.864C>T	c.(862-864)gaC>gaT	p.D288D	PCBP3_uc002zhp.2_Silent_p.D268D|PCBP3_uc002zhq.2_Silent_p.D288D|PCBP3_uc002zhs.2_Silent_p.D262D|PCBP3_uc002zht.2_Silent_p.D278D	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	288					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGTCTGGACGCCAGCCCAC	0.577													T	47355174	C	T	47355174	2	4	94	1	0	0	0	0	0	0	0	1	11502	535	19	1		1	PCBP3	21	47355174	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	1043327	47355174	774721	53	6170											
IL3RA	3563	broad.mit.edu	37	X	1464293	1464293	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:1464293delT	uc004cps.3	+	2	498	c.149delT	c.(148-150)atcfs	p.I50fs	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Intron	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	50						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	GTGACCGATATCGAGTGTGTT	0.358													-	1464293	T	-	1464293	7	5	94	1	0	1	0	1	0	0	0	0	7695	1435	50	0	155	0	IL3RA	23	1464293	Frame_Shift_Del	DEL	T	TCGA-06-5418-01A-01D-1486-08		1464293	153806267	54	6171											
VDAC1	7416	broad.mit.edu	37	X	80185205	80185205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:80185205C>T								BRWD3 (119972 upstream) : HMGN5 (183995 downstream)																							TACGGCCTCACGTTTACAGAG	0.473													T	80185205	C	T	80185205	3	4	94	1	0	0	0	0	1	0	0	0	17143	551	19	1		1	VDAC1	23	80185205	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	78720912	80185205	75085355	55	6172											
PCDH19	57526	broad.mit.edu	37	X	99662549	99662551	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:99662549_99662551delCAG	uc010nmz.3	-	0	2721_2723	c.1045_1047delCTG	c.(1045-1047)ctgdel	p.L349del	PCDH19_uc004efw.4_In_Frame_Del_p.L349del|PCDH19_uc004efx.4_In_Frame_Del_p.L349del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	349					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGTTGACTGACAGCAGGTTGATG	0.616													-	99662551	CAG	-	99662549	7	5	94	1	0	1	0	1	0	0	0	0	11514	465	17	0	2423	0	PCDH19	23	99662549	In_Frame_Del	DEL	CAG	TCGA-06-5418-01A-01D-1486-08	19477344	99662549	55608011	56	6173											
TBC1D8B	54885	broad.mit.edu	37	X	106097468	106097468	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:106097468G>A	uc004emo.3	+	13	2459	c.2294G>A	c.(2293-2295)cGc>cAc	p.R765H	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	765						intracellular	calcium ion binding|Rab GTPase activator activity	p.R765H(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAGTATGCGCTGTCGAAAT	0.348													A	106097468	G	A	106097468	3	1	94	1	0	0	0	0	1	0	0	0	15623	1087	38	1	2414	1	TBC1D8B	23	106097468	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	6434919	106097468	49173092	57	6174											
ZMYM1	79830	broad.mit.edu	37	1	35580838	35580841	+	Frame_Shift_Del	DEL	TCAG	TCAG	-			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:35580838_35580841delTCAG	uc001bym.3	+	9	3553_3556	c.3407_3410delTCAG	c.(3406-3411)atcagtfs	p.I1136fs	ZMYM1_uc001byn.3_Frame_Shift_Del_p.I1136fs|ZMYM1_uc010ohu.2_Frame_Shift_Del_p.I1117fs|ZMYM1_uc001byo.3_Frame_Shift_Del_p.I776fs|ZMYM1_uc009vut.3_Frame_Shift_Del_p.I1061fs	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	1136						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAAAGTTTATCAGTCAGATGAAA	0.348													-	35580841	TCAG	-	35580838	7	5	95	1	0	1	0	1	0	0	0	0	17696	1435	50	0	3441	0	ZMYM1	1	35580838	Frame_Shift_Del	DEL	TCAG	TCGA-06-5856-01A-01D-1696-08		35580838	213669783	1	6175											
GNG5	2787	broad.mit.edu	37	1	84967630	84967630	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:84967630C>A	uc001djw.4	-	2	459	c.105G>T	c.(103-105)ttG>ttT	p.L35F		NM_005274	NP_005265	P63218	GBG5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 5 (GNG5), mRNA.	35					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AGAACTGTTTCAAGTCTGCAG	0.433													A	84967630	C	A	84967630	3	1	95	1	0	0	0	0	1	0	0	0	6530	825	29	5	105	5	GNG5	1	84967630	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	49386792	84967630	164282991	2	6176											
SPAG17	200162	broad.mit.edu	37	1	118539227	118539227	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:118539227A>T	uc001ehk.2	-	32	4984	c.4916T>A	c.(4915-4917)gTc>gAc	p.V1639D	SPAG17_uc021osr.1_Missense_Mutation_p.V149D	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1639						cilium|flagellar axoneme|microtubule				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)		TTACCTGGGGACATGTTCACC	0.299													T	118539227	A	T	118539227	3	4	95	1	0	0	0	0	1	0	0	0	14979	275	10	5	1819	5	SPAG17	1	118539227	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	33571597	118539227	130711394	3	6177											
BCL9	607	broad.mit.edu	37	1	147092093	147092093	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:147092093T>G	uc001epq.3	+	7	2872	c.2132T>G	c.(2131-2133)aTg>aGg	p.M711R	BCL9_uc010ozr.1_Missense_Mutation_p.M637R	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	711	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAGTTTGGGATGGTTCCTAGT	0.527			T	"IGH@, IGL@"	B-ALL								G	147092093	T	G	147092093	3	3	95	1	0	0	0	0	1	0	0	0	1381	1464	51	5	2150	5	BCL9	1	147092093	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	28552866	147092093	102158528	4	6178											
KPRP	448834	broad.mit.edu	37	1	152732521	152732521	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:152732521T>G	uc001fal.1	+	1	515	c.457T>G	c.(457-459)Tat>Gat	p.Y153D	KPRP_uc021ozf.1_Missense_Mutation_p.Y153D	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	153	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCCAGAACTATGTACCCTG	0.512													G	152732521	T	G	152732521	3	3	95	1	0	0	0	0	1	0	0	0	8436	1522	53	5	459	5	KPRP	1	152732521	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	5640428	152732521	96518100	5	6179											
NPR1	4881	broad.mit.edu	37	1	153657481	153657481	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:153657481G>A	uc001fcs.4	+	7	1947	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	NPR1_uc010pdz.2_Missense_Mutation_p.R255Q|NPR1_uc010pea.2_Missense_Mutation_p.R13Q	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	509					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAGCTGTGGCGGGTGCGCTGG	0.647													A	153657481	G	A	153657481	3	1	95	1	0	0	0	0	1	0	0	0	10594	1116	39	2	1556	2	NPR1	1	153657481	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	924960	153657481	95593140	6	6180											
C1orf198	84886	broad.mit.edu	37	1	230979428	230979428	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:230979428C>T	uc001hub.3	-	2	643	c.599G>A	c.(598-600)gGg>gAg	p.G200E	C1orf198_uc009xfh.2_Missense_Mutation_p.G70E|C1orf198_uc001huc.2_5'UTR|C1orf198_uc001hud.2_Missense_Mutation_p.G162E	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	200										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGGCCCCTCCCCTCGGGACCG	0.632													T	230979428	C	T	230979428	3	4	95	1	0	0	0	0	1	0	0	0	2026	623	22	3	392	3	C1orf198	1	230979428	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	77321947	230979428	18271193	7	6181											
OR2M3	127062	broad.mit.edu	37	1	248366725	248366725	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:248366725C>A	uc010pzg.2	+	0	356	c.356C>A	c.(355-357)gCt>gAt	p.A119D		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	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)			GCTGTTATGGCTTATGACCGC	0.463													A	248366725	C	A	248366725	3	1	95	1	0	0	0	0	1	0	0	0	11011	797	28	5	358	5	OR2M3	1	248366725	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	17387297	248366725	883896	8	6182											
C2orf16	84226	broad.mit.edu	37	2	27799823	27799823	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:27799823G>A	uc002rkz.4	+	0	435	c.384G>A	c.(382-384)caG>caA	p.Q128Q		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	128										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGGGCATCAGTTTGCAAAAT	0.403													A	27799823	G	A	27799823	2	1	95	1	0	0	0	0	0	0	0	1	2157	1020	36	3		3	C2orf16	2	27799823	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08		27799823	215399550	9	6183											
MAP4K3	8491	broad.mit.edu	37	2	39560698	39560698	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:39560698T>G	uc002rro.3	-	6	523	c.432A>C	c.(430-432)ttA>ttC	p.L144F	MAP4K3_uc002rrp.3_Missense_Mutation_p.L144F	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	144	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CATTATCCGTTAATAGAATGT	0.274													G	39560698	T	G	39560698	3	3	95	1	0	0	0	0	1	0	0	0	9261	1751	61	5	2364	5	MAP4K3	2	39560698	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	11760875	39560698	203638675	10	6184											
BCL11A	53335	broad.mit.edu	37	2	60688972	60688972	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:60688972G>C	uc002sae.1	-	3	1303	c.1075C>G	c.(1075-1077)Ccc>Gcc	p.P359A	BCL11A_uc002sab.3_Missense_Mutation_p.P359A|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P325A|BCL11A_uc002sad.1_Missense_Mutation_p.P207A|BCL11A_uc002saf.1_Missense_Mutation_p.P325A	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	359	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGAGGGAGGGGGGGCGTCGCC	0.632			T	IGH@	B-CLL								C	60688972	G	C	60688972	3	2	95	1	0	0	0	0	1	0	0	0	1363	1232	43	5	1542	5	BCL11A	2	60688972	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	21128274	60688972	182510401	11	6185											
GPR45	11250	broad.mit.edu	37	2	105859160	105859160	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:105859160C>T	uc002tco.1	+	0	961	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	282						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCTGGCTGCCCCACTCCGTC	0.592													T	105859160	C	T	105859160	3	4	95	1	0	0	0	0	1	0	0	0	6696	623	22	3	847	3	GPR45	2	105859160	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	45170188	105859160	137340213	12	6186											
PRRT3	285368	broad.mit.edu	37	3	9989638	9989638	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr3:9989638G>A	uc003bul.2	-	3	1349	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	407	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGACTGGGGGTGCTGGGGGA	0.607													A	9989638	G	A	9989638	3	1	95	1	0	0	0	0	1	0	0	0	12611	1261	44	3	1730	3	PRRT3	3	9989638	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08		9989638	188032792	13	6187											
MUC7	4589	broad.mit.edu	37	4	71346565	71346565	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:71346565A>G	uc011cat.2	+	3	392	c.104A>G	c.(103-105)cAt>cGt	p.H35R	MUC7_uc011cau.2_Missense_Mutation_p.H35R|MUC7_uc003hfj.3_Missense_Mutation_p.H35R	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	35						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGAAGGCATCATCACCAATCA	0.383													G	71346565	A	G	71346565	3	3	95	1	0	0	0	0	1	0	0	0	9981	217	8	4	110	4	MUC7	4	71346565	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		71346565	119807711	14	6188											
RASGEF1B	153020	broad.mit.edu	37	4	82380500	82380500	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:82380500C>A	uc003hmi.1	-	1	307	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	RASGEF1B_uc003hmj.1_Missense_Mutation_p.D55Y|RASGEF1B_uc010ijq.1_Missense_Mutation_p.D55Y|RASGEF1B_uc003hmk.3_Missense_Mutation_p.D55Y	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	55	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GGATAGTAATCCACATTAGGT	0.443													A	82380500	C	A	82380500	3	1	95	1	0	0	0	0	1	0	0	0	13070	855	30	5	1310	5	RASGEF1B	4	82380500	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	11033935	82380500	108773776	15	6189											
FNIP2	57600	broad.mit.edu	37	4	159790265	159790265	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:159790265C>G	uc003iqe.4	+	12	2660	c.2477C>G	c.(2476-2478)gCa>gGa	p.A826G		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	826	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCCACGGTGCAGGAGGAACG	0.607													G	159790265	C	G	159790265	3	3	95	1	0	0	0	0	1	0	0	0	5976	710	25	5	2527	5	FNIP2	4	159790265	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	77409765	159790265	31364011	16	6190											
NEK1	4750	broad.mit.edu	37	4	170345795	170345795	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:170345795C>A	uc003isd.2	-	30	3709	c.3131G>T	c.(3130-3132)cGa>cTa	p.R1044L	NEK1_uc003ise.2_Missense_Mutation_p.R1000L|NEK1_uc003isb.2_Missense_Mutation_p.R1016L|NEK1_uc003isc.2_Missense_Mutation_p.R972L|NEK1_uc003isf.2_Missense_Mutation_p.R947L	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	1016					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CGAGTGAGATCGAAATGCAAA	0.398													A	170345795	C	A	170345795	3	1	95	1	0	0	0	0	1	0	0	0	10321	884	31	5	753	5	NEK1	4	170345795	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	10555530	170345795	20808481	17	6191											
SLC9A3	6550	broad.mit.edu	37	5	481703	481703	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:481703G>A	uc003jbe.2	-	8	1606	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	SLC9A3_uc011clx.1_Silent_p.I489I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	498						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AATTGTGCCCGATCTGTCCGG	0.582													A	481703	G	A	481703	2	1	95	1	0	0	0	0	0	0	0	1	14713	1048	37	2		2	SLC9A3	5	481703	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08		481703	180433557	18	6192											
NSUN2	54888	broad.mit.edu	37	5	6600309	6600309	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:6600309G>A	uc003jdu.3	-	18	2415	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C	NSUN2_uc003jdt.3_Silent_p.C442C|NSUN2_uc011cmk.2_Silent_p.C643C|NSUN2_uc003jdv.3_Silent_p.C442C	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	678						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCCGCCATCCGCATAAGACGA	0.458													A	6600309	G	A	6600309	2	1	95	1	0	0	0	0	0	0	0	1	10678	1079	38	1		1	NSUN2	5	6600309	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	6118606	6600309	174314951	19	6193											
MYO10	4651	broad.mit.edu	37	5	16668401	16668401	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:16668401G>A	uc003jft.4	-	39	6528	c.6060C>T	c.(6058-6060)ctC>ctT	p.L2020L	MYO10_uc011cnb.2_Silent_p.L649L|MYO10_uc011cnc.2_Silent_p.L899L|MYO10_uc011cnd.2_Silent_p.L1377L|MYO10_uc011cne.2_Silent_p.L1377L|MYO10_uc010itx.3_Silent_p.L1642L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	2020	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGTTTCAAAGAGCAGCTCCC	0.463													A	16668401	G	A	16668401	2	1	95	1	0	0	0	0	0	0	0	1	10062	929	33	3		3	MYO10	5	16668401	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	10068092	16668401	164246859	20	6194											
HIST1H2AA	221613	broad.mit.edu	37	6	25726579	25726579	+	Silent	SNP	G	G	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:25726579G>T	uc003nfc.3	-	0	212	c.177C>A	c.(175-177)ctC>ctA	p.L59L	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	59					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTTCTGCTGTGAGATACTCTA	0.537													T	25726579	G	T	25726579	2	4	95	1	0	0	0	0	0	0	0	1	7128	1277	45	5		5	HIST1H2AA	6	25726579	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08		25726579	145388488	21	6195											
PSMB8	5696	broad.mit.edu	37	6	32811722	32811722	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:32811722C>T	uc003oce.3	-	0	95	c.52G>A	c.(52-54)Gct>Act	p.A18T	PSMB8_uc003ocf.3_Intron|PSMB8_uc011dqh.2_Missense_Mutation_p.A18T|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	18					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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						ACCGGGAGAGCCGATTCCGGC	0.637													T	32811722	C	T	32811722	3	4	95	1	0	0	0	0	1	0	0	0	12683	739	26	3	802	3	PSMB8	6	32811722	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	7085143	32811722	138303345	22	6196											
SCUBE3	222663	broad.mit.edu	37	6	35210070	35210072	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:35210070_35210072delGAG	uc003okf.1	+	12	1513_1515	c.1507_1509delGAG	c.(1507-1509)gagdel	p.E504del	SCUBE3_uc003okg.1_In_Frame_Del_p.E503del|SCUBE3_uc003okh.1_In_Frame_Del_p.E391del	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	504					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGGCAAAACAGAGGAGGCTGGCA	0.547													-	35210072	GAG	-	35210070	7	5	95	1	0	1	0	1	0	0	0	0	13946	943	33	0	1557	0	SCUBE3	6	35210070	In_Frame_Del	DEL	GAG	TCGA-06-5856-01A-01D-1696-08	2398348	35210070	135904997	23	6197											
CPVL	54504	broad.mit.edu	37	7	29152433	29152433	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:29152433C>T	uc003szv.3	-	2	294	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CPVL_uc003szw.3_Missense_Mutation_p.E59K|CPVL_uc003szx.3_Missense_Mutation_p.E59K	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	59					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AAACTCAATTCTCTTCCTAGT	0.418													T	29152433	C	T	29152433	3	4	95	1	0	0	0	0	1	0	0	0	3835	922	32	3	1299	3	CPVL	7	29152433	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08		29152433	129986230	24	6198											
MYO1G	64005	broad.mit.edu	37	7	45016656	45016656	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:45016656C>T	uc003tmh.2	-	1	254	c.110G>A	c.(109-111)cGc>cAc	p.R37H	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	37	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGTGTAGATGCGGCCCTTCTC	0.637													T	45016656	C	T	45016656	3	4	95	1	0	0	0	0	1	0	0	0	10074	768	27	1	3030	1	MYO1G	7	45016656	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	15864223	45016656	114122007	25	6199											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	95	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	10205166	55221822	103916841	26	6200											
POM121	9883	broad.mit.edu	37	7	72413475	72413475	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:72413475G>A	uc003twk.2	+	10	2943	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G	POM121_uc003twj.3_Silent_p.G716G|POM121_uc010lam.1_Silent_p.G716G	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	981	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGCCACCGGGGGCCGCCAAGC	0.652													A	72413475	G	A	72413475	2	1	95	1	0	0	0	0	0	0	0	1	12239	1219	43	3		3	POM121	7	72413475	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	17191653	72413475	86725188	27	6201											
ZC3HAV1L	92092	broad.mit.edu	37	7	138719356	138719356	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:138719356A>G	uc003vum.1	-	1	446	c.434T>C	c.(433-435)cTt>cCt	p.L145P		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	145										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GAGACCAAAAAGTCCATGGCT	0.483													G	138719356	A	G	138719356	3	3	95	1	0	0	0	0	1	0	0	0	17573	72	3	4	484	4	ZC3HAV1L	7	138719356	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	66305881	138719356	20419307	28	6202											
RP1L1	94137	broad.mit.edu	37	8	10467546	10467546	+	Silent	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr8:10467546C>T	uc003wtc.3	-	3	4291	c.4062G>A	c.(4060-4062)gcG>gcA	p.A1354A		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1354					intracellular signal transduction			p.A1354A(2)		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)		cctctaactgcgcctcttctt	0.478													T	10467546	C	T	10467546	2	4	95	1	0	0	0	0	0	0	0	1	13533	755	27	1		1	RP1L1	8	10467546	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08		10467546	135896476	29	6203											
CDC37L1	55664	broad.mit.edu	37	9	4679887	4679887	+	Silent	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:4679887C>G	uc003zio.3	+	0	322	c.120C>G	c.(118-120)ggC>ggG	p.G40G		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	40	Self-association.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		AGCTGCCAGGCGGCGGCGCCC	0.682											OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	4679887	C	G	4679887	2	3	95	1	0	0	0	0	0	0	0	1	3069	755	27	5		5	CDC37L1	9	4679887	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08		4679887	136533544	30	6204											
KIAA2026	158358	broad.mit.edu	37	9	5922764	5922764	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:5922764G>T	uc003zjq.4	-	7	3448	c.3232C>A	c.(3232-3234)Ctt>Att	p.L1078I	KIAA2026_uc010mht.3_Missense_Mutation_p.L253I	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1078										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTATTTTGAAGATCTATTGGC	0.418													T	5922764	G	T	5922764	3	4	95	1	0	0	0	0	1	0	0	0	8270	942	33	5	3083	5	KIAA2026	9	5922764	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	1242877	5922764	135290667	31	6205											
C9orf131	138724	broad.mit.edu	37	9	35044886	35044886	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:35044886T>C	uc003zvw.3	+	1	2289	c.2260T>C	c.(2260-2262)Tgc>Cgc	p.C754R	C9orf131_uc003zvu.3_Missense_Mutation_p.C706R|C9orf131_uc003zvv.3_Missense_Mutation_p.C681R|C9orf131_uc003zvx.3_Missense_Mutation_p.C719R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	754										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGGAGTAACGTGCCCAGGGGT	0.587													C	35044886	T	C	35044886	3	2	95	1	0	0	0	0	1	0	0	0	2457	1696	59	4	2282	4	C9orf131	9	35044886	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	29122122	35044886	106168545	32	6206											
FBP1	2203	broad.mit.edu	37	9	97380079	97380079	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:97380079C>T	uc004auw.4	-	2	728	c.397G>A	c.(397-399)Gtt>Att	p.V133I	FBP1_uc010mrl.3_Missense_Mutation_p.V133I	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	133					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATGGTTCCAACGGACACAAGG	0.388													T	97380079	C	T	97380079	3	4	95	1	0	0	0	0	1	0	0	0	5705	536	19	1	639	1	FBP1	9	97380079	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	62335193	97380079	43833352	33	6207											
CDHR1	92211	broad.mit.edu	37	10	85962739	85962739	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr10:85962739G>T	uc001kcv.3	+	7	748	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C	CDHR1_uc001kcw.3_Missense_Mutation_p.G215C|CDHR1_uc009xst.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	215	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCTGCAGGATGGCGGTGGGAG	0.557													T	85962739	G	T	85962739	3	4	95	1	0	0	0	0	1	0	0	0	3118	1348	47	5	673	5	CDHR1	10	85962739	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08		85962739	49572008	34	6208											
AHNAK	79026	broad.mit.edu	37	11	62286891	62286891	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:62286891C>G	uc001ntl.3	-	4	15298	c.14998G>C	c.(14998-15000)Gtt>Ctt	p.V5000L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5000					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTCAGGAACAGTGACATCC	0.433													G	62286891	C	G	62286891	3	3	95	1	0	0	0	0	1	0	0	0	414	478	17	5	2794	5	AHNAK	11	62286891	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08		62286891	72719625	35	6209											
MTMR2	8898	broad.mit.edu	37	11	95580911	95580911	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:95580911G>A	uc001pfu.3	-	9	1399	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	MTMR2_uc001pfv.3_Silent_p.N310N|MTMR2_uc001pfs.3_Silent_p.N310N|MTMR2_uc001pft.3_Silent_p.N310N|MTMR2_uc010ruj.1_Silent_p.N365N	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.	382	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGATTCCAAGTTAGACAACC	0.368													A	95580911	G	A	95580911	2	1	95	1	0	0	0	0	0	0	0	1	9944	1020	36	3		3	MTMR2	11	95580911	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	33294020	95580911	39425605	36	6210											
SCN3B	55800	broad.mit.edu	37	11	123513193	123513193	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:123513193T>C	uc001pza.1	-	3	813	c.406A>G	c.(406-408)Aag>Gag	p.K136E	SCN3B_uc001pzb.1_Missense_Mutation_p.K136E	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	136	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CGCGTCGTCTTCACAAAGGGC	0.592													C	123513193	T	C	123513193	3	2	95	1	0	0	0	0	1	0	0	0	13919	1792	62	4	253	4	SCN3B	11	123513193	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	27932282	123513193	11493323	37	6211											
EFCAB4B	84766	broad.mit.edu	37	12	3788105	3788105	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:3788105A>G	uc010sen.1	-	5	1072	c.500T>C	c.(499-501)cTt>cCt	p.L167P	EFCAB4B_uc001qmj.2_Missense_Mutation_p.L167P	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	167					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTGGGCTCCAAGTCTGTCCAT	0.517													G	3788105	A	G	3788105	3	3	95	1	0	0	0	0	1	0	0	0	4937	72	3	4	1947	4	EFCAB4B	12	3788105	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		3788105	130063790	38	6212											
NDUFA9	4704	broad.mit.edu	37	12	4771765	4771765	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:4771765T>C	uc001qnc.3	+	5	648	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	NDUFA9_uc009zei.2_Missense_Mutation_p.F207L|NDUFA9_uc010ses.2_5'UTR	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	207					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	GTCGGACATCTTTGGAAGAGA	0.393													C	4771765	T	C	4771765	3	2	95	1	0	0	0	0	1	0	0	0	10272	1609	56	4	641	4	NDUFA9	12	4771765	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	983660	4771765	129080130	39	6213											
PLEKHA5	54477	broad.mit.edu	37	12	19285373	19285373	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:19285373A>T	uc001reb.3	+	2	324	c.216A>T	c.(214-216)agA>agT	p.R72S	PLEKHA5_uc010sie.2_Missense_Mutation_p.R72S|PLEKHA5_uc001rea.3_Missense_Mutation_p.R72S|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc001rdz.4_Missense_Mutation_p.R72S	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	72	WW 2.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGGTGCAAGATACTATATAA	0.313													T	19285373	A	T	19285373	3	4	95	1	0	0	0	0	1	0	0	0	12059	330	12	5	226	5	PLEKHA5	12	19285373	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	14513608	19285373	114566522	40	6214											
H3F3C	440093	broad.mit.edu	37	12	31944878	31944878	+	Missense_Mutation	SNP	C	C	T	rs141415515		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:31944878C>T	uc001rkr.3	-	0	298	c.223G>A	c.(223-225)Gcg>Acg	p.A75T		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	75					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AAATCCTGCGCGATCTCCCTC	0.587										HNSCC(67;0.2)			T	31944878	C	T	31944878	3	4	95	1	0	0	0	0	1	0	0	0	6935	768	27	1	188	1	H3F3C	12	31944878	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	12659505	31944878	101907017	41	6215											
OR6C75	390323	broad.mit.edu	37	12	55759176	55759176	+	Silent	SNP	G	G	T	rs113253007		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:55759176G>T	uc010spk.2	+	0	282	c.282G>T	c.(280-282)ggG>ggT	p.G94G		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G94W(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTATAATGGGTGTGTGGCTC	0.448													T	55759176	G	T	55759176	2	4	95	1	0	0	0	0	0	0	0	1	11199	1248	44	5		5	OR6C75	12	55759176	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	23814298	55759176	78092719	42	6216											
SMARCC2	6601	broad.mit.edu	37	12	56578637	56578637	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:56578637C>G	uc001skb.3	-	4	589	c.483G>C	c.(481-483)aaG>aaC	p.K161N	SMARCC2_uc001skd.3_Missense_Mutation_p.K161N|SMARCC2_uc001ska.3_Missense_Mutation_p.K161N|SMARCC2_uc001skc.3_Missense_Mutation_p.K161N|SMARCC2_uc010sqf.2_Missense_Mutation_p.K50N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	161					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTGGTGTCTCTTGATAATGT	0.418													G	56578637	C	G	56578637	3	3	95	1	0	0	0	0	1	0	0	0	14776	912	32	5	3354	5	SMARCC2	12	56578637	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	819461	56578637	77273258	43	6217											
MARCH9	92979	broad.mit.edu	37	12	58152353	58152353	+	Silent	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:58152353C>A	uc001spx.2	+	3	1145	c.714C>A	c.(712-714)atC>atA	p.I238I	MARCH9_uc001spy.3_Silent_p.I125I	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	238						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGGCCTCATCATCCATGAAG	0.478													A	58152353	C	A	58152353	2	1	95	1	0	0	0	0	0	0	0	1	9308	816	29	5		5	MARCH9	12	58152353	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08	1573716	58152353	75699542	44	6218											
IFNG	3458	broad.mit.edu	37	12	68552011	68552011	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:68552011T>C	uc001stw.1	-	1	269	c.143A>G	c.(142-144)aAt>aGt	p.N48S		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	48					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AAGAGTTCCATTATCCGCTAC	0.308													C	68552011	T	C	68552011	3	2	95	1	0	0	0	0	1	0	0	0	7548	1493	52	4	369	4	IFNG	12	68552011	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	10399658	68552011	65299884	45	6219											
CNOT2	4848	broad.mit.edu	37	12	70732228	70732228	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:70732228G>C	uc001svv.3	+	9	1488	c.906G>C	c.(904-906)ttG>ttC	p.L302F	CNOT2_uc009zro.3_Missense_Mutation_p.L302F|CNOT2_uc009zrp.3_Missense_Mutation_p.L282F|CNOT2_uc009zrq.3_Missense_Mutation_p.L302F|CNOT2_uc001svw.1_Missense_Mutation_p.L42F	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	302					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCTAGAATTTGAATACATCTG	0.294													C	70732228	G	C	70732228	3	2	95	1	0	0	0	0	1	0	0	0	3619	1281	45	5	940	5	CNOT2	12	70732228	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	2180217	70732228	63119667	46	6220											
CNOT2	4848	broad.mit.edu	37	12	70732315	70732315	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:70732315G>C	uc001svv.3	+	9	1575	c.993G>C	c.(991-993)caG>caC	p.Q331H	CNOT2_uc009zro.3_Missense_Mutation_p.Q331H|CNOT2_uc009zrp.3_Missense_Mutation_p.Q311H|CNOT2_uc009zrq.3_Missense_Mutation_p.Q331H|CNOT2_uc001svw.1_Missense_Mutation_p.Q71H	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	331					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATAACCAGCAGAAAAAAGGGA	0.338													C	70732315	G	C	70732315	3	2	95	1	0	0	0	0	1	0	0	0	3619	933	33	5	1027	5	CNOT2	12	70732315	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	87	70732315	63119580	47	6221											
FSCB	84075	broad.mit.edu	37	14	44974567	44974567	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:44974567C>A	uc001wvn.3	-	0	1933	c.1624G>T	c.(1624-1626)Gct>Tct	p.A542S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	542	Ala-rich.					cilium				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)		GGAGACTGAGCTTCAGCAGGA	0.493													A	44974567	C	A	44974567	3	1	95	1	0	0	0	0	1	0	0	0	6066	797	28	5	857	5	FSCB	14	44974567	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08		44974567	62374973	48	6222											
ACTN1	87	broad.mit.edu	37	14	69349203	69349203	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:69349203A>C	uc001xkl.3	-	15	2235	c.1925T>G	c.(1924-1926)aTc>aGc	p.I642S	ACTN1_uc001xkk.3_Missense_Mutation_p.I238S|ACTN1_uc010ttb.2_Missense_Mutation_p.I577S|ACTN1_uc001xkm.3_Missense_Mutation_p.I642S|ACTN1_uc001xkn.3_Missense_Mutation_p.I642S|ACTN1_uc010ttc.2_Missense_Mutation_p.I227S	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	642	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGGGCCCGATGACATTGGC	0.642													C	69349203	A	C	69349203	3	2	95	1	0	0	0	0	1	0	0	0	204	333	12	5	847	5	ACTN1	14	69349203	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	24374636	69349203	38000337	49	6223											
ACOT4	122970	broad.mit.edu	37	14	74060458	74060458	+	Silent	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:74060458C>A	uc001xoo.3	+	1	764	c.510C>A	c.(508-510)ctC>ctA	p.L170L		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	170					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAGGGGGCCTCTTGGAATATC	0.423													A	74060458	C	A	74060458	2	1	95	1	0	0	0	0	0	0	0	1	153	900	32	5		5	ACOT4	14	74060458	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08	4711255	74060458	33289082	50	6224											
MAPKBP1	23005	broad.mit.edu	37	15	42107465	42107465	+	Silent	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr15:42107465C>T	uc001zok.4	+	11	1483	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	MAPKBP1_uc010bci.3_Silent_p.P393P|MAPKBP1_uc010udb.2_Intron|MAPKBP1_uc001zoj.4_Silent_p.P393P|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	399										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGGTCTACCCCGAGGTGAAGG	0.572													T	42107465	C	T	42107465	2	4	95	1	0	0	0	0	0	0	0	1	9292	639	23	2		2	MAPKBP1	15	42107465	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08		42107465	60423927	51	6225											
CAMKK1	84254	broad.mit.edu	37	17	3772866	3772866	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:3772866G>A	uc002fwv.3	-	14	1518	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L	CAMKK1_uc002fwt.3_Missense_Mutation_p.S419L|CAMKK1_uc002fwu.3_Missense_Mutation_p.S419L	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	419	Calmodulin-binding (By similarity).				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S419L(1)|p.S457L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTCCTCCTCCGAAGGAAGGGG	0.632													A	3772866	G	A	3772866	3	1	95	1	0	0	0	0	1	0	0	0	2606	1059	37	2	277	2	CAMKK1	17	3772866	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08		3772866	77422344	52	6226											
MED13	9969	broad.mit.edu	37	17	60061549	60061549	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:60061549C>A	uc002izo.3	-	14	2948	c.2871G>T	c.(2869-2871)atG>atT	p.M957I		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	957					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGATGAATGGCATTGAAGGCC	0.378													A	60061549	C	A	60061549	3	1	95	1	0	0	0	0	1	0	0	0	9430	710	25	5	3717	5	MED13	17	60061549	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	56288683	60061549	21133661	53	6227											
CBX8	57332	broad.mit.edu	37	17	77769275	77769275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:77769275G>A	uc002jxd.2	-	4	447	c.329C>T	c.(328-330)tCg>tTg	p.S110L		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	110					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTCCTGGGGCGAGCGGCCAGG	0.657													A	77769275	G	A	77769275	3	1	95	1	0	0	0	0	1	0	0	0	2724	1045	37	2	819	2	CBX8	17	77769275	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	17707726	77769275	3425935	54	6228											
INO80C	125476	broad.mit.edu	37	18	33077703	33077703	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:33077703A>T	uc010dmt.3	-	0	253	c.136T>A	c.(136-138)Tcc>Acc	p.S46T	INO80C_uc002kyw.1_Missense_Mutation_p.S46T|INO80C_uc002kyx.4_5'Flank|INO80C_uc002kyy.4_Missense_Mutation_p.S46T	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	46					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CTGGAAGCGGACGCTTTTTTC	0.672													T	33077703	A	T	33077703	3	4	95	1	0	0	0	0	1	0	0	0	7748	275	10	5	578	5	INO80C	18	33077703	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		33077703	44999545	55	6229											
POLI	11201	broad.mit.edu	37	18	51820790	51820790	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:51820790G>A	uc002lfj.4	+	9	2244	c.2176G>A	c.(2176-2178)Gca>Aca	p.A726T	POLI_uc010xds.2_Missense_Mutation_p.A647T|POLI_uc002lfk.4_Missense_Mutation_p.A623T|POLI_uc010dpg.3_Missense_Mutation_p.A322T	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	726					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.A726T(1)|p.A701T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GGAACTGCTGGCAGAGTGGAA	0.388								DNA polymerases (catalytic subunits)					A	51820790	G	A	51820790	3	1	95	1	0	0	0	0	1	0	0	0	12203	1203	42	3	2214	3	POLI	18	51820790	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	18743087	51820790	26256458	56	6230											
DUS3L	56931	broad.mit.edu	37	19	5790075	5790075	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:5790075A>C	uc002mdc.3	-	1	467	c.370T>G	c.(370-372)Tgt>Ggt	p.C124G	DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Intron	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	124					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGGGAGGGACACAGCCTGTTC	0.607													C	5790075	A	C	5790075	3	2	95	1	0	0	0	0	1	0	0	0	4807	159	6	5	1630	5	DUS3L	19	5790075	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		5790075	53338908	57	6231											
ADAMTS10	81794	broad.mit.edu	37	19	8651442	8651442	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:8651442C>A	uc002mkj.1	-	20	2677	c.2403_splice	c.e20+1	p.M801_splice	ADAMTS10_uc002mki.1_Splice_Site_p.M288_splice|ADAMTS10_uc002mkk.1_Splice_Site_p.M433_splice	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	801	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCCTGTTACCATGACGATGA	0.597											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	8651442	C	A	8651442	3	1	95	1	0	0	0	0	1	0	0	0	256	608	21	5	936	5	ADAMTS10	19	8651442	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	2861367	8651442	50477541	58	6232											
CDC37	11140	broad.mit.edu	37	19	10506731	10506731	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:10506731A>T	uc002mof.1	-	1	367	c.251T>A	c.(250-252)cTg>cAg	p.L84Q		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	84					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCGGCCTGCAGGCGCTCCAG	0.662													T	10506731	A	T	10506731	3	4	95	1	0	0	0	0	1	0	0	0	3068	188	7	5	913	5	CDC37	19	10506731	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	1855289	10506731	48622252	59	6233											
CC2D1A	54862	broad.mit.edu	37	19	14029731	14029731	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:14029731C>A	uc002mxo.2	+	9	1324	c.1025C>A	c.(1024-1026)cCc>cAc	p.P342H	CC2D1A_uc002mxn.2_Missense_Mutation_p.P241H|CC2D1A_uc002mxp.2_Missense_Mutation_p.P342H|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	342	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCAGAGGTGCCCCCACCCCCG	0.672													A	14029731	C	A	14029731	3	1	95	1	0	0	0	0	1	0	0	0	2726	623	22	5	1063	5	CC2D1A	19	14029731	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	3523000	14029731	45099252	60	6234											
MYO9B	4650	broad.mit.edu	37	19	17212559	17212559	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:17212559G>A	uc010eak.3	+	1	184	c.32G>A	c.(31-33)cGc>cAc	p.R11H	MYO9B_uc002nfi.3_Missense_Mutation_p.R11H|MYO9B_uc002nfj.1_Missense_Mutation_p.R11H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	11	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCTCGGGCCGCCGGGAGCAG	0.692													A	17212559	G	A	17212559	3	1	95	1	0	0	0	0	1	0	0	0	10085	1087	38	1	34	1	MYO9B	19	17212559	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	3182828	17212559	41916424	61	6235											
HCK	3055	broad.mit.edu	37	20	30661155	30661155	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:30661155A>T	uc002wxh.3	+	2	454	c.217A>T	c.(217-219)Atc>Ttc	p.I73F	HCK_uc010gdy.3_Missense_Mutation_p.I53F|HCK_uc021wbv.1_Missense_Mutation_p.I52F|HCK_uc002wxi.3_Missense_Mutation_p.I52F	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	73					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.H72Q(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CACACCAGGAATCAGGGAGGG	0.512													T	30661155	A	T	30661155	3	4	95	1	0	0	0	0	1	0	0	0	6994	101	4	5	233	5	HCK	20	30661155	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		30661155	32364365	62	6236											
R3HDML	140902	broad.mit.edu	37	20	42973947	42973947	+	Silent	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:42973947C>T	uc002xls.1	+	3	730	c.558C>T	c.(556-558)acC>acT	p.T186T		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	186						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCATCCACACCTGTAGTAGCA	0.582													T	42973947	C	T	42973947	2	4	95	1	0	0	0	0	0	0	0	1	12889	668	24	3		3	R3HDML	20	42973947	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08	12312792	42973947	20051573	63	6237											
SEMG2	6407	broad.mit.edu	37	20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	rs140069155		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:43851147C>T	uc010ggz.3	+	1	931	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	SEMG2_uc002xnk.3_Missense_Mutation_p.R292C|SEMG2_uc002xnl.3_Missense_Mutation_p.R292C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292S(2)|p.S291P(1)|p.R292H(1)|p.R292L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393													T	43851147	C	T	43851147	3	4	95	1	0	0	0	0	1	0	0	0	14045	536	19	1	880	1	SEMG2	20	43851147	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	877200	43851147	19174373	64	6238											
LZTR1	8216	broad.mit.edu	37	22	21349003	21349003	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr22:21349003T>G	uc002zto.3	+	14	1875	c.1772T>G	c.(1771-1773)cTg>cGg	p.L591R	LZTR1_uc002ztn.3_Missense_Mutation_p.L550R|LZTR1_uc011ahy.2_Missense_Mutation_p.L572R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	591					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGGCTGCAGCTGAGCCAACTC	0.667													G	21349003	T	G	21349003	3	3	95	1	0	0	0	0	1	0	0	0	9137	1580	55	5	1830	5	LZTR1	22	21349003	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08		21349003	29955563	65	6239											
PPIL2	23759	broad.mit.edu	37	22	22042378	22042378	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr22:22042378C>A	uc010gtj.1	+	13	1120	c.1004C>A	c.(1003-1005)cCc>cAc	p.P335H	PPIL2_uc002zvh.4_Missense_Mutation_p.P335H|PPIL2_uc002zvi.4_Missense_Mutation_p.P335H|PPIL2_uc002zvg.4_Missense_Mutation_p.P335H|PPIL2_uc011aij.2_Missense_Mutation_p.P314H|PPIL2_uc002zvk.4_Missense_Mutation_p.P81H	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	335	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GGGGGCGACCCCACAGGCACA	0.642													A	22042378	C	A	22042378	3	1	95	1	0	0	0	0	1	0	0	0	12327	623	22	5	1058	5	PPIL2	22	22042378	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	693375	22042378	29262188	66	6240											
ZFX	7543	broad.mit.edu	37	X	24229156	24229156	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:24229156A>C	uc011mjv.2	+	9	2447	c.2198A>C	c.(2197-2199)cAt>cCt	p.H733P	ZFX_uc004dbd.2_Missense_Mutation_p.H694P|ZFX_uc004dbf.3_Missense_Mutation_p.H694P|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.H694P|ZFX_uc010nfx.2_Missense_Mutation_p.H465P|ZFX_uc010nfz.3_Missense_Mutation_p.H350P	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAGTGTAGACATTGTGACTTT	0.433													C	24229156	A	C	24229156	3	2	95	1	0	0	0	0	1	0	0	0	17658	217	8	5	2166	5	ZFX	23	24229156	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		24229156	131041404	67	6241											
HDAC6	10013	broad.mit.edu	37	X	48681101	48681101	+	Silent	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:48681101A>C	uc011mmi.1	+	23	2504	c.2409A>C	c.(2407-2409)ccA>ccC	p.P803P	HDAC6_uc004dks.1_Silent_p.P803P|HDAC6_uc010nig.1_Silent_p.P651P|HDAC6_uc004dkt.1_Silent_p.P803P|HDAC6_uc011mmk.1_Silent_p.P784P|HDAC6_uc004dkv.1_Silent_p.P451P|HDAC6_uc004dkw.1_Silent_p.P451P|HDAC6_uc004dkx.1_Silent_p.P166P	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	803					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.P803P(4)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAGACCCACCACCCCTGCTGA	0.587													C	48681101	A	C	48681101	2	2	95	1	0	0	0	0	0	0	0	1	7011	146	6	5		5	HDAC6	23	48681101	Silent	SNP	A	TCGA-06-5856-01A-01D-1696-08	24451945	48681101	106589459	68	6242											
IL1RAPL2	26280	broad.mit.edu	37	X	105011638	105011638	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:105011638C>T	uc004elz.1	+	10	2801	c.2045C>T	c.(2044-2046)aCc>aTc	p.T682I		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	682					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGCTTTACCAGTGATATT	0.393													T	105011638	C	T	105011638	3	4	95	1	0	0	0	0	1	0	0	0	7662	507	18	3	2083	3	IL1RAPL2	23	105011638	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	56330537	105011638	50258922	69	6243											
L1CAM	3897	broad.mit.edu	37	X	153141260	153141260	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:153141260A>C	uc004fjb.3	-	0	140	c.32T>G	c.(31-33)cTc>cGc	p.L11R	L1CAM_uc004fjc.3_Missense_Mutation_p.L11R|L1CAM_uc010nuo.3_Missense_Mutation_p.L11R|L1CAM_uc022chz.1_Missense_Mutation_p.L11R	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	11					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					GCAGAGGAGGAGAGGCCACAC	0.682											OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	153141260	A	C	153141260	3	2	95	1	0	0	0	0	1	0	0	0	8588	304	11	5	3853	5	L1CAM	23	153141260	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	48129622	153141260	2129300	70	6244											
NOC2L	26155	broad.mit.edu	37	1	887446	887446	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:887446G>A	uc009vjq.3	-	10	1324	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	NOC2L_uc001aby.4_Missense_Mutation_p.A219V|NOC2L_uc001abz.4_Missense_Mutation_p.A422V	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	422						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTGGGGCCCGCAGTGCTCAG	0.592													A	887446	G	A	887446	3	1	96	1	0	0	0	0	1	0	0	0	10513	1087	38	1	1020	1	NOC2L	1	887446	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		887446	248363175	1	6245											
PRDM16	63976	broad.mit.edu	37	1	3328828	3328828	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:3328828C>T	uc001akf.3	+	8	2149	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	PRDM16_uc001ake.3_Silent_p.A689A|PRDM16_uc009vlh.3_Silent_p.A390A|PRDM16_uc001akc.3_Silent_p.A689A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	689	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGGCGCCGCCGGGGACTCCA	0.642			T	EVI1	"MDS, AML"								T	3328828	C	T	3328828	2	4	96	1	0	0	0	0	0	0	0	1	12457	639	23	2		2	PRDM16	1	3328828	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2441382	3328828	245921793	2	6246											
GPR153	387509	broad.mit.edu	37	1	6314021	6314021	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:6314021G>A	uc001amp.2	-	2	803	c.543C>T	c.(541-543)ggC>ggT	p.G181G		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	181						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCACGCTGCCGCCCACCAGCA	0.692													A	6314021	G	A	6314021	2	1	96	1	0	0	0	0	0	0	0	1	6659	1074	38	1		1	GPR153	1	6314021	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2985193	6314021	242936600	3	6247											
CLCN6	1185	broad.mit.edu	37	1	11893604	11893605	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:11893604_11893605insT	uc001ate.4	+	13	1394_1395	c.1281_1282insT	c.(1279-1284)acatttfs	p.T427fs	CLCN6_uc010oat.2_Frame_Shift_Ins_p.T143fs|CLCN6_uc010oau.2_Frame_Shift_Ins_p.T405fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	427					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATCAAGACATTTTTTTGTCC	0.455													T	11893605	-	T	11893604	7	5	96	1	0	1	1	0	0	0	0	0	3467	204	8	0	1345	0	CLCN6	1	11893604	Frame_Shift_Ins	INS	-	TCGA-06-5858-01A-01D-1696-08	5579583	11893604	237357017	4	6248											
DNAJC16	23341	broad.mit.edu	37	1	15870908	15870908	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:15870908G>A	uc001aws.3	+	4	709	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	DNAJC16_uc001awr.1_Missense_Mutation_p.V197M|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	197	Thioredoxin.				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)		AGGAATTGGCGTGGTCCATGC	0.463													A	15870908	G	A	15870908	3	1	96	1	0	0	0	0	1	0	0	0	4635	1145	40	1	603	1	DNAJC16	1	15870908	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3977304	15870908	233379713	5	6249											
NUDC	10726	broad.mit.edu	37	1	27268025	27268025	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:27268025C>T	uc001bng.1	+	2	353	c.237C>T	c.(235-237)gcC>gcT	p.A79A	BC016143_uc021ojq.1_Intron	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.	79					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGCAGGAGGCCGAGCGGCGGG	0.617													T	27268025	C	T	27268025	2	4	96	1	0	0	0	0	0	0	0	1	10721	639	23	2		2	NUDC	1	27268025	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	11397117	27268025	221982596	6	6250											
EPS15	2060	broad.mit.edu	37	1	51829678	51829678	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:51829678C>T	uc001csq.1	-	22	2311	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	EPS15_uc009vyz.1_Missense_Mutation_p.R606H|EPS15_uc001csp.3_Missense_Mutation_p.R426H	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	740	15 X 3 AA repeats of D-P-F.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGTGGCTGAACGAAAAGGATC	0.388			T	MLL	ALL								T	51829678	C	T	51829678	3	4	96	1	0	0	0	0	1	0	0	0	5192	536	19	1	483	1	EPS15	1	51829678	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	24561653	51829678	197420943	7	6251											
DENND2D	79961	broad.mit.edu	37	1	111730833	111730833	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:111730833C>T	uc001eak.1	-	10	1459	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	DENND2D_uc001eal.1_Missense_Mutation_p.R417Q	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	420	dDENN.							p.R420Q(2)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTTCACAAATCGGCGGTTGGT	0.498													T	111730833	C	T	111730833	3	4	96	1	0	0	0	0	1	0	0	0	4431	884	31	2	164	2	DENND2D	1	111730833	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	59901155	111730833	137519788	8	6252											
VANGL1	81839	broad.mit.edu	37	1	116226676	116226676	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:116226676G>A	uc001efv.1	+	5	1329	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	VANGL1_uc009wgy.1_Missense_Mutation_p.R351Q|VANGL1_uc021ose.1_Missense_Mutation_p.R353Q	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	353					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CATGAACGGCGAGTAAAGAAG	0.438													A	116226676	G	A	116226676	3	1	96	1	0	0	0	0	1	0	0	0	17116	1058	37	2	1076	2	VANGL1	1	116226676	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4495843	116226676	133023945	9	6253											
NOTCH2NL	388677	broad.mit.edu	37	1	145273241	145273241	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:145273241A>G	uc001emn.4	+	2	465	c.95A>G	c.(94-96)aAc>aGc	p.N32S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.N32S|NOTCH2NL_uc001emo.2_Missense_Mutation_p.N32S|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	32	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTGAGAAGAACCGCTGCCAG	0.532													G	145273241	A	G	145273241	3	3	96	1	0	0	0	0	1	0	0	0	10549	43	2	4	101	4	NOTCH2NL	1	145273241	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	29046565	145273241	103977380	10	6254											
CHD1L	9557	broad.mit.edu	37	1	146766154	146766154	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:146766154G>A	uc001epm.4	+	21	2633	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	CHD1L_uc001epn.4_Missense_Mutation_p.R744Q|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.R763Q|CHD1L_uc010ozp.2_Missense_Mutation_p.R576Q|CHD1L_uc001epo.4_Missense_Mutation_p.R653Q|CHD1L_uc009wji.3_Missense_Mutation_p.R576Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	857	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GGTACTGAGCGACTTATTCGG	0.423													A	146766154	G	A	146766154	3	1	96	1	0	0	0	0	1	0	0	0	3324	1058	37	2	2656	2	CHD1L	1	146766154	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1492913	146766154	102484467	11	6255											
INSRR	3645	broad.mit.edu	37	1	156823811	156823811	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:156823811G>A	uc010pht.2	-	1	669	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.R124C	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	124					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACGTCACGCAGATGTGGC	0.622													A	156823811	G	A	156823811	3	1	96	1	0	0	0	0	1	0	0	0	7774	1087	38	1	3606	1	INSRR	1	156823811	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	10057657	156823811	92426810	12	6256											
CD84	8832	broad.mit.edu	37	1	160535290	160535290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:160535290C>T	uc001fwh.4	-	1	371	c.292G>A	c.(292-294)Gat>Aat	p.D98N	CD84_uc001fwf.4_Missense_Mutation_p.D98N|CD84_uc009wtn.3_Missense_Mutation_p.D98N|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.D98N|CD84_uc001fwj.3_Missense_Mutation_p.D98N|CD84_uc001fwk.3_Missense_Mutation_p.D98N	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	98					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCCTCAGATCGCTAATGACC	0.463													T	160535290	C	T	160535290	3	4	96	1	0	0	0	0	1	0	0	0	3042	884	31	2	773	2	CD84	1	160535290	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3711479	160535290	88715331	13	6257											
BLZF1	8548	broad.mit.edu	37	1	169347745	169347745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:169347745C>T	uc001gfx.2	+	3	1083	c.646C>T	c.(646-648)Cga>Tga	p.R216*	BLZF1_uc001gfy.3_Nonsense_Mutation_p.R216*|BLZF1_uc009wvp.1_Nonsense_Mutation_p.R193*	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	216					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	p.R216*(4)|p.R216Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TGATGTATGGCGAAGTAAATT	0.363													T	169347745	C	T	169347745	4	4	96	1	0	0	0	0	0	1	0	0	1453	760	27	1	656	1	BLZF1	1	169347745	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	8812455	169347745	79902876	14	6258											
CENPF	1063	broad.mit.edu	37	1	214837072	214837072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:214837072C>T	uc001hkm.3	+	19	9454	c.9280C>T	c.(9280-9282)Cga>Tga	p.R3094*		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	3190	Sufficient for centromere localization.|Sufficient for nuclear localization.				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			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)		CAAGCGAGGCCGACTTGTCCC	0.582													T	214837072	C	T	214837072	4	4	96	1	0	0	0	0	0	1	0	0	3231	644	23	2	9354	2	CENPF	1	214837072	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	45489327	214837072	34413549	15	6259											
GNPAT	8443	broad.mit.edu	37	1	231401503	231401503	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:231401503C>T	uc001hup.4	+	5	948	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	GNPAT_uc009xfo.1_Missense_Mutation_p.R139C|GNPAT_uc009xfp.3_Missense_Mutation_p.R187C	NM_014236	NP_055051	O15228	GNPAT_HUMAN	Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.	248					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GACAAGAAGCCGCTCTGCCAA	0.378													T	231401503	C	T	231401503	3	4	96	1	0	0	0	0	1	0	0	0	6541	652	23	2	764	2	GNPAT	1	231401503	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	16564431	231401503	17849118	16	6260											
RYR2	6262	broad.mit.edu	37	1	237729890	237729890	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:237729890G>A	uc001hyl.1	+	27	3358	c.3238G>A	c.(3238-3240)Ggc>Agc	p.G1080S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1080	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.T1079T(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)			AGTGTGCAGCGGCACCGGGGA	0.502													A	237729890	G	A	237729890	3	1	96	1	0	0	0	0	1	0	0	0	13769	1116	39	2	3348	2	RYR2	1	237729890	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	6328387	237729890	11520731	17	6261											
WDR64	128025	broad.mit.edu	37	1	241946599	241946599	+	Missense_Mutation	SNP	G	G	A	rs141496101	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:241946599G>A	uc001hzg.2	+	21	2798	c.2591G>A	c.(2590-2592)cGt>cAt	p.R864H	WDR64_uc021plh.1_Missense_Mutation_p.R491H|WDR64_uc021pli.1_Missense_Mutation_p.R417H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	864										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTTCCTGGCGTGCTCATTCT	0.373													A	241946599	G	A	241946599	3	1	96	1	0	0	0	0	1	0	0	0	17312	1145	40	1	2677	1	WDR64	1	241946599	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4216709	241946599	7304022	18	6262											
ASAP2	8853	broad.mit.edu	37	2	9517083	9517083	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:9517083G>A	uc002qzh.2	+	17	2133	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	ASAP2_uc002qzi.2_Missense_Mutation_p.R598Q	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	598					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCGTGGATCGAACCTCTCTT	0.448													A	9517083	G	A	9517083	3	1	96	1	0	0	0	0	1	0	0	0	1011	1058	37	2	1863	2	ASAP2	2	9517083	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		9517083	233682290	19	6263											
GALNT14	79623	broad.mit.edu	37	2	31167749	31167749	+	Missense_Mutation	SNP	G	G	A	rs143143842	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:31167749G>A	uc002rns.3	-	8	1457	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	GALNT14_uc002rnq.3_Missense_Mutation_p.R248C|GALNT14_uc010ymr.2_Missense_Mutation_p.R233C|GALNT14_uc002rnr.3_Missense_Mutation_p.R268C|GALNT14_uc010ezo.2_Missense_Mutation_p.R235C|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	268						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R268C(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)					GGGTCCAGGCGCCGAGCCTTC	0.587													A	31167749	G	A	31167749	3	1	96	1	0	0	0	0	1	0	0	0	6212	1087	38	1	888	1	GALNT14	2	31167749	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	21650666	31167749	212031624	20	6264											
ARHGAP25	9938	broad.mit.edu	37	2	69034467	69034467	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:69034467G>A	uc010fdg.3	+	4	948	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	ARHGAP25_uc010yqk.2_Missense_Mutation_p.V151M|ARHGAP25_uc010yql.2_Missense_Mutation_p.V137M|ARHGAP25_uc002sev.3_Missense_Mutation_p.V170M|ARHGAP25_uc002sew.3_Missense_Mutation_p.V169M|ARHGAP25_uc002sex.3_Missense_Mutation_p.V170M|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	176	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCCCCATCTGGTGCCCATCCT	0.562													A	69034467	G	A	69034467	3	1	96	1	0	0	0	0	1	0	0	0	874	1261	44	3	587	3	ARHGAP25	2	69034467	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	37866718	69034467	174164906	21	6265											
C2orf68	388969	broad.mit.edu	37	2	85836146	85836146	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:85836146C>T	uc002sqc.2	-	3	495	c.423G>A	c.(421-423)acG>acA	p.T141T	USP39_uc002sqb.3_Intron	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	Homo sapiens chromosome 2 open reading frame 68 (C2orf68), mRNA.	141										breast(1)|central_nervous_system(1)|endometrium(1)	3						GATCCAGAGGCGTGTGTGCCG	0.572													T	85836146	C	T	85836146	2	4	96	1	0	0	0	0	0	0	0	1	2187	755	27	1		1	C2orf68	2	85836146	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	16801679	85836146	157363227	22	6266											
TBC1D8	11138	broad.mit.edu	37	2	101656773	101656773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:101656773G>A	uc010fiv.3	-	5	1033	c.902C>T	c.(901-903)gCg>gTg	p.A301V	TBC1D8_uc010yvw.2_Missense_Mutation_p.A316V|TBC1D8_uc002tau.4_Missense_Mutation_p.A58V	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	301	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GTCCACAACCGCGTGCAGCTT	0.577													A	101656773	G	A	101656773	3	1	96	1	0	0	0	0	1	0	0	0	15622	1087	38	1	2580	1	TBC1D8	2	101656773	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	15820627	101656773	141542600	23	6267											
TUBA3D	113457	broad.mit.edu	37	2	132238322	132238322	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:132238322G>T	uc002tsu.4	+	4	1249	c.1056_splice	c.e4+1	p.K352_splice		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	352					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGGATTTAAGGTATGACTGG	0.552													T	132238322	G	T	132238322	3	4	96	1	0	0	0	0	1	0	0	0	16744	1014	35	5	1070	5	TUBA3D	2	132238322	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	30581549	132238322	110961051	24	6268											
TANC1	85461	broad.mit.edu	37	2	160074082	160074082	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:160074082C>T	uc002uag.3	+	19	3593	c.3319C>T	c.(3319-3321)Cgg>Tgg	p.R1107W	TANC1_uc010zcm.2_Missense_Mutation_p.R1099W|TANC1_uc010fom.1_Missense_Mutation_p.R913W|TANC1_uc010fon.3_5'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1107						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGCTGTGTCGCGGACAAACAG	0.597													T	160074082	C	T	160074082	3	4	96	1	0	0	0	0	1	0	0	0	15541	759	27	1	3389	1	TANC1	2	160074082	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	27835760	160074082	83125291	25	6269											
TTN	7273	broad.mit.edu	37	2	179396884	179396884	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:179396884C>T	uc021vsy.1	-	306	96979	c.96754G>A	c.(96754-96756)Gaa>Aaa	p.E32252K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25947K|TTN_uc021vta.1_Missense_Mutation_p.E25880K|TTN_uc021vtb.1_Missense_Mutation_p.E25755K|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33179	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E32250K(1)|p.E25880K(1)|p.E25947K(1)|p.E25755K(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)			TTTGAGATTTCGTATTCTTCC	0.413													T	179396884	C	T	179396884	3	4	96	1	0	0	0	0	1	0	0	0	16732	893	31	2	3541	2	TTN	2	179396884	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	19322802	179396884	63802489	26	6270											
SPATS2L	26010	broad.mit.edu	37	2	201337625	201337625	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:201337625C>T	uc010zhc.2	+	11	1344	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	SPATS2L_uc002uvn.4_Silent_p.H377H|SPATS2L_uc010fst.3_Silent_p.H377H|SPATS2L_uc002uvo.4_Silent_p.H317H|SPATS2L_uc002uvp.4_Silent_p.H377H|SPATS2L_uc002uvq.4_Silent_p.H308H|SPATS2L_uc002uvr.4_Silent_p.H377H	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	377						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGAATGCGCACGCAGCAACCT	0.483													T	201337625	C	T	201337625	2	4	96	1	0	0	0	0	0	0	0	1	15019	535	19	1		1	SPATS2L	2	201337625	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	21940741	201337625	41861748	27	6271											
PID1	55022	broad.mit.edu	37	2	230020577	230020577	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:230020577G>A	uc002vpr.4	-	1	271	c.233C>T	c.(232-234)aCg>aTg	p.T78M	PID1_uc002vps.4_Missense_Mutation_p.T76M|PID1_uc002vpt.4_Missense_Mutation_p.T45M|PID1_uc002vpu.4_Intron	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	78						cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CGGTGTGGTCGTGCACAGCTC	0.517													A	230020577	G	A	230020577	3	1	96	1	0	0	0	0	1	0	0	0	11882	1145	40	1	527	1	PID1	2	230020577	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	28682952	230020577	13178796	28	6272											
UGT1A1	54600	broad.mit.edu	37	2	234580843	234580843	+	Missense_Mutation	SNP	G	G	A	rs148603525	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:234580843G>A	uc002vus.3	+	0	300	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.R88Q	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	90					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R88L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GATCTGGACCGGGAGTTCAAG	0.408													A	234580843	G	A	234580843	3	1	96	1	0	0	0	0	1	0	0	0	16941	1116	39	2		2	UGT1A1	2	234580843	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4560266	234580843	8618530	29	6273											
TRPM8	79054	broad.mit.edu	37	2	234851383	234851383	+	Silent	SNP	C	C	T	rs147774253		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:234851383C>T	uc002vvh.3	+	5	730	c.690C>T	c.(688-690)tgC>tgT	p.C230C	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.C180C|TRPM8_uc002vvj.3_Silent_p.C153C	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	230						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCAGGAATTGCGATGCTGAGG	0.562													T	234851383	C	T	234851383	2	4	96	1	0	0	0	0	0	0	0	1	16589	776	27	1		1	TRPM8	2	234851383	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	270540	234851383	8347990	30	6274											
KIF1A	547	broad.mit.edu	37	2	241728662	241728662	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:241728662C>T	uc010fzk.3	-	2	421	c.174G>A	c.(172-174)tcG>tcA	p.S58S	KIF1A_uc002vzy.3_Silent_p.S58S|KIF1A_uc002vzz.2_Silent_p.S58S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	58	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGAGGTGTGCGACCAGTAGG	0.612													T	241728662	C	T	241728662	2	4	96	1	0	0	0	0	0	0	0	1	8283	755	27	1		1	KIF1A	2	241728662	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	6877279	241728662	1470711	31	6275											
IL5RA	3568	broad.mit.edu	37	3	3139680	3139680	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:3139680C>T	uc011ask.2	-	7	1227	c.583G>A	c.(583-585)Gca>Aca	p.A195T	IL5RA_uc010hbq.3_Missense_Mutation_p.A195T|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.A195T|IL5RA_uc011asl.2_Missense_Mutation_p.A195T|IL5RA_uc011asm.1_Missense_Mutation_p.A195T|IL5RA_uc010hbt.2_Missense_Mutation_p.A195T|IL5RA_uc011asn.1_Missense_Mutation_p.A195T|IL5RA_uc010hbu.2_Missense_Mutation_p.A195T	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	195					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.A195S(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AACCAGCATGCGATATTTCTC	0.483													T	3139680	C	T	3139680	3	4	96	1	0	0	0	0	1	0	0	0	7700	768	27	1	729	1	IL5RA	3	3139680	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		3139680	194882750	32	6276											
SCN5A	6331	broad.mit.edu	37	3	38620857	38620857	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:38620857T>C	uc021wvo.1	-	16	3410	c.3358A>G	c.(3358-3360)Aaa>Gaa	p.K1120E	SCN5A_uc021wvk.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvn.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvp.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvq.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvr.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvs.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvt.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.K986E|SCN5A_uc021wvw.1_Missense_Mutation_p.K730E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1120					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGTTCCGCTTTCCACTGCTGC	0.662													C	38620857	T	C	38620857	3	2	96	1	0	0	0	0	1	0	0	0	13922	1792	62	4	2736	4	SCN5A	3	38620857	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	35481177	38620857	159401573	33	6277											
TTC21A	199223	broad.mit.edu	37	3	39152446	39152446	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:39152446C>T	uc003cjc.2	+	3	550	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	TTC21A_uc003cja.3_Missense_Mutation_p.R125C|TTC21A_uc010hho.2_Missense_Mutation_p.R88C|TTC21A_uc003cjb.3_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.R125C|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	125							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCTCATAGGCCGCCATGACAA	0.502													T	39152446	C	T	39152446	3	4	96	1	0	0	0	0	1	0	0	0	16684	652	23	2	387	2	TTC21A	3	39152446	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	531589	39152446	158869984	34	6278											
NBEAL2	23218	broad.mit.edu	37	3	47040042	47040042	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:47040042C>T	uc003cqp.3	+	21	3387	c.3208C>T	c.(3208-3210)Cgc>Tgc	p.R1070C	NBEAL2_uc010hjm.2_Missense_Mutation_p.R631C	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1070							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGATGCTCTGCGCACCCACTA	0.612											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47040042	C	T	47040042	3	4	96	1	0	0	0	0	1	0	0	0	10189	768	27	1	3294	1	NBEAL2	3	47040042	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7887596	47040042	150982388	35	6279											
NCKIPSD	51517	broad.mit.edu	37	3	48719898	48719898	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:48719898G>C	uc003cun.3	-	2	463	c.369C>G	c.(367-369)gaC>gaG	p.D123E	NCKIPSD_uc003cum.3_Missense_Mutation_p.D123E|NCKIPSD_uc010hkh.2_Missense_Mutation_p.D123E	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	123					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAAGTGGTGGTCACTGGTTG	0.592													C	48719898	G	C	48719898	3	2	96	1	0	0	0	0	1	0	0	0	10225	1252	44	5	1843	5	NCKIPSD	3	48719898	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1679856	48719898	149302532	36	6280											
P4HTM	54681	broad.mit.edu	37	3	49043241	49043241	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:49043241G>A	uc003cvh.3	+	6	1637	c.1288G>A	c.(1288-1290)Gtc>Atc	p.V430I	P4HTM_uc003cvg.3_Missense_Mutation_p.V369I|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	369	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TTTGAACAACGTCACTGGTGG	0.542													A	49043241	G	A	49043241	3	1	96	1	0	0	0	0	1	0	0	0	11360	1145	40	1	1314	1	P4HTM	3	49043241	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	323343	49043241	148979189	37	6281											
TMF1	7110	broad.mit.edu	37	3	69097037	69097037	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:69097037C>T	uc011bfx.2	-	1	1066	c.819G>A	c.(817-819)gcG>gcA	p.A273A	TMF1_uc003dnn.3_Silent_p.A273A	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	273					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTCTCGAGCTCGCTGAGCTCT	0.398													T	69097037	C	T	69097037	2	4	96	1	0	0	0	0	0	0	0	1	16225	871	31	2		2	TMF1	3	69097037	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	20053796	69097037	128925393	38	6282											
FILIP1L	11259	broad.mit.edu	37	3	99568062	99568062	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:99568062G>A	uc003dtm.3	-	4	2921	c.2458C>T	c.(2458-2460)Cgt>Tgt	p.R820C	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.R820C|FILIP1L_uc010hpf.3_Missense_Mutation_p.R396C|FILIP1L_uc010hpg.3_Missense_Mutation_p.R580C|FILIP1L_uc003dtn.3_Missense_Mutation_p.R580C|FILIP1L_uc021xbr.1_Missense_Mutation_p.R580C|FILIP1L_uc003dtp.1_Missense_Mutation_p.R580C	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	820						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATGACTGCACGTTCCAGAGGA	0.438													A	99568062	G	A	99568062	3	1	96	1	0	0	0	0	1	0	0	0	5895	1145	40	1	978	1	FILIP1L	3	99568062	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	30471025	99568062	98454368	39	6283											
KALRN	8997	broad.mit.edu	37	3	124017688	124017688	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:124017688G>A	uc003ehg.3	+	5	1141	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	KALRN_uc010hrv.1_Silent_p.T338T|KALRN_uc003ehf.1_Silent_p.T338T|KALRN_uc011bjy.1_Silent_p.T338T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	338					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			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						AGAGCCACACGGAGATCGGAG	0.512													A	124017688	G	A	124017688	2	1	96	1	0	0	0	0	0	0	0	1	7975	1103	39	2		2	KALRN	3	124017688	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	24449626	124017688	74004742	40	6284											
ZNF148	7707	broad.mit.edu	37	3	124951615	124951615	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:124951615G>A	uc003ehx.4	-	8	2441	c.1955C>T	c.(1954-1956)gCc>gTc	p.A652V	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.A652V|ZNF148_uc010hsa.3_Missense_Mutation_p.A652V|ZNF148_uc003eia.4_Missense_Mutation_p.A652V|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	652					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GGGCATGGTGGCATAGACCTG	0.443													A	124951615	G	A	124951615	3	1	96	1	0	0	0	0	1	0	0	0	17731	1203	42	3	433	3	ZNF148	3	124951615	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	933927	124951615	73070815	41	6285											
CCDC37	348807	broad.mit.edu	37	3	126153184	126153184	+	Missense_Mutation	SNP	G	G	A	rs141942694	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:126153184G>A	uc010hsg.1	+	13	1650	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	CCDC37_uc003eiu.1_Missense_Mutation_p.E530K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	530										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGTCAAGATCGAGCAGGCCGA	0.637													A	126153184	G	A	126153184	3	1	96	1	0	0	0	0	1	0	0	0	2809	1059	37	2	1642	2	CCDC37	3	126153184	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1201569	126153184	71869246	42	6286											
IFT122	55764	broad.mit.edu	37	3	129195512	129195512	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:129195512G>A	uc003eml.3	+	11	1374	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S	IFT122_uc003emm.3_Missense_Mutation_p.G339S|IFT122_uc003emn.3_Missense_Mutation_p.G280S|IFT122_uc003emo.3_Missense_Mutation_p.G228S|IFT122_uc003emp.3_Missense_Mutation_p.G189S|IFT122_uc010htc.3_Missense_Mutation_p.G331S|IFT122_uc011bky.2_Missense_Mutation_p.G130S|IFT122_uc011bla.2_Missense_Mutation_p.G130S|IFT122_uc003emr.3_Missense_Mutation_p.G130S|IFT122_uc011bkx.1_Missense_Mutation_p.G179S|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	339					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCAGGTGGTCGGCTGCCAGGA	0.527													A	129195512	G	A	129195512	3	1	96	1	0	0	0	0	1	0	0	0	7555	1116	39	2	1214	2	IFT122	3	129195512	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3042328	129195512	68826918	43	6287											
CEP63	80254	broad.mit.edu	37	3	134226076	134226076	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:134226076G>A	uc003eqo.1	+	3	619	c.170G>A	c.(169-171)cGt>cAt	p.R57H	CEP63_uc003eql.1_Missense_Mutation_p.R57H|CEP63_uc003eqm.3_Missense_Mutation_p.R57H|CEP63_uc003eqn.1_Missense_Mutation_p.R57H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	57					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.R57C(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGAAAATCCGTGAACAGGAA	0.368													A	134226076	G	A	134226076	3	1	96	1	0	0	0	0	1	0	0	0	3257	1145	40	1	176	1	CEP63	3	134226076	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5030564	134226076	63796354	44	6288											
CPB1	1360	broad.mit.edu	37	3	148545842	148545842	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:148545842G>A	uc003ewl.3	+	1	148	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	42					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.R42H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AACATAATCCGCGAGTTGGCC	0.363													A	148545842	G	A	148545842	3	1	96	1	0	0	0	0	1	0	0	0	3796	1087	38	1	131	1	CPB1	3	148545842	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	14319766	148545842	49476588	45	6289											
EPHB3	2049	broad.mit.edu	37	3	184298249	184298249	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:184298249C>T	uc003foz.3	+	11	2669	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	744	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCATTGCTGCCGGCATGAAGT	0.572													T	184298249	C	T	184298249	2	4	96	1	0	0	0	0	0	0	0	1	5176	639	23	2		2	EPHB3	3	184298249	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	35752407	184298249	13724181	46	6290											
LIPH	200879	broad.mit.edu	37	3	185245282	185245282	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:185245282G>A	uc003fpm.3	-	3	728	c.618C>T	c.(616-618)tcC>tcT	p.S206S	LIPH_uc010hyh.3_Intron	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	206					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.H205N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CATCAGTGTCGGAATGGATGA	0.527													A	185245282	G	A	185245282	2	1	96	1	0	0	0	0	0	0	0	1	8824	1103	39	2		2	LIPH	3	185245282	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	947033	185245282	12777148	47	6291											
BCL6	604	broad.mit.edu	37	3	187442788	187442788	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:187442788G>A	uc003frp.3	-	8	2375	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R584W|BCL6_uc010hza.2_Missense_Mutation_p.R538W|BCL6_uc003frq.2_Missense_Mutation_p.R640W	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	640					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGAAGGTGCCGGAAACGGGTG	0.557			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								A	187442788	G	A	187442788	3	1	96	1	0	0	0	0	1	0	0	0	1376	1115	39	2	210	2	BCL6	3	187442788	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2197506	187442788	10579642	48	6292											
TP63	8626	broad.mit.edu	37	3	189582118	189582118	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:189582118G>A	uc003fry.2	+	4	766	c.677G>A	c.(676-678)cGc>cAc	p.R226H	TP63_uc003frx.2_Missense_Mutation_p.R226H|TP63_uc003frz.2_Missense_Mutation_p.R226H|TP63_uc010hzc.1_Missense_Mutation_p.R226H|TP63_uc003fsa.2_Missense_Mutation_p.R132H|TP63_uc003fsb.2_Missense_Mutation_p.R132H|TP63_uc003fsc.2_Missense_Mutation_p.R132H|TP63_uc003fsd.2_Missense_Mutation_p.R132H|TP63_uc021xir.1_Missense_Mutation_p.R132H|TP63_uc010hzd.1_Missense_Mutation_p.R47H|TP63_uc003fse.1_Missense_Mutation_p.R107H	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	226					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCTGTTATCCGCGCCATGCCT	0.522										HNSCC(45;0.13)			A	189582118	G	A	189582118	3	1	96	1	0	0	0	0	1	0	0	0	16389	1087	38	1	741	1	TP63	3	189582118	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2139330	189582118	8440312	49	6293											
ADD1	118	broad.mit.edu	37	4	2877779	2877779	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:2877779G>A	uc003gfq.3	+	1	325	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ADD1_uc010ico.1_Missense_Mutation_p.R46H|ADD1_uc003gfo.3_Missense_Mutation_p.R46H|ADD1_uc003gfp.3_Missense_Mutation_p.R46H|ADD1_uc003gfr.3_Missense_Mutation_p.R46H|ADD1_uc003gfs.3_Missense_Mutation_p.R46H|ADD1_uc003gft.3_Missense_Mutation_p.R46H	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	46					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	p.R46C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGACCTTCGCCAGGACTTC	0.517													A	2877779	G	A	2877779	3	1	96	1	0	0	0	0	1	0	0	0	304	1087	38	1	139	1	ADD1	4	2877779	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		2877779	188276497	50	6294											
TMPRSS11F	389208	broad.mit.edu	37	4	68964683	68964683	+	Missense_Mutation	SNP	G	G	A	rs140054355	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:68964683G>A	uc003hdt.1	-	1	134	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	29					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AGAGCTAGCCGTACTGAGTCC	0.378													A	68964683	G	A	68964683	3	1	96	1	0	0	0	0	1	0	0	0	16240	1144	40	1	1267	1	TMPRSS11F	4	68964683	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	66086904	68964683	122189593	51	6295											
RXFP1	59350	broad.mit.edu	37	4	159567947	159567947	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:159567947C>T	uc003ipz.3	+	15	1613	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	RXFP1_uc010iqk.3_Silent_p.A318A|RXFP1_uc011cja.2_Silent_p.A345A|RXFP1_uc010iqo.3_Silent_p.A402A|RXFP1_uc011cjb.2_Silent_p.A348A|RXFP1_uc011cjc.2_Silent_p.A369A|RXFP1_uc011cjd.2_Silent_p.A369A|RXFP1_uc010iql.3_Silent_p.A294A|RXFP1_uc011cje.2_Silent_p.A477A|RXFP1_uc010iqm.3_Silent_p.A417A|RXFP1_uc011cjf.2_Silent_p.A319A|RXFP1_uc010iqn.3_Silent_p.A395A	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	450						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.A450D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCTAGGTGCCGACTGCTTAA	0.348													T	159567947	C	T	159567947	2	4	96	1	0	0	0	0	0	0	0	1	13759	639	23	2		2	RXFP1	4	159567947	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	90603264	159567947	31586329	52	6296											
ASB5	140458	broad.mit.edu	37	4	177143569	177143569	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:177143569A>G	uc003iuq.2	-	2	393	c.279T>C	c.(277-279)ggT>ggC	p.G93G	ASB5_uc003iup.2_Silent_p.G40G	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	93					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTACATTATAACCCTAAATGT	0.398													G	177143569	A	G	177143569	2	3	96	1	0	0	0	0	0	0	0	1	1026	30	2	4		4	ASB5	4	177143569	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	17575622	177143569	14010707	53	6297											
ZFP42	132625	broad.mit.edu	37	4	188924752	188924752	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:188924752C>T	uc003izh.1	+	3	1199	c.791C>T	c.(790-792)aCg>aTg	p.T264M	ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc021xvm.1_Missense_Mutation_p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	264					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATTTGCGTACGCACGTGCGC	0.483													T	188924752	C	T	188924752	3	4	96	1	0	0	0	0	1	0	0	0	17647	536	19	1	793	1	ZFP42	4	188924752	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	11781183	188924752	2229524	54	6298											
NIPBL	25836	broad.mit.edu	37	5	36984865	36984865	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:36984865C>T	uc003jkl.4	+	9	2082	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	NIPBL_uc003jkk.4_Missense_Mutation_p.T528M|NIPBL_uc003jkm.1_Missense_Mutation_p.T407M	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	528					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.T528T(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTCAGGAGACGGGTTCTACG	0.448													T	36984865	C	T	36984865	3	4	96	1	0	0	0	0	1	0	0	0	10428	536	19	1	1617	1	NIPBL	5	36984865	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		36984865	143930395	55	6299											
MAST4	375449	broad.mit.edu	37	5	66416869	66416869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:66416869C>T	uc021xzk.1	+	13	1992	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	MAST4_uc003jut.2_Nonsense_Mutation_p.R373*|MAST4_uc003juu.1_Nonsense_Mutation_p.R383*|MAST4_uc011cra.1_Nonsense_Mutation_p.R356*|MAST4_uc003juv.2_Nonsense_Mutation_p.R368*|MAST4_uc003juw.3_Nonsense_Mutation_p.R368*	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	565						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			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)		CCTGAAACTTCGAAGGAAACC	0.313													T	66416869	C	T	66416869	4	4	96	1	0	0	0	0	0	1	0	0	9327	876	31	2	1868	2	MAST4	5	66416869	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	29432004	66416869	114498391	56	6300											
PDE8B	8622	broad.mit.edu	37	5	76709099	76709099	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:76709099G>A	uc003kfa.3	+	16	1921	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	PDE8B_uc003kfd.3_Missense_Mutation_p.A579T|PDE8B_uc003kfe.3_Missense_Mutation_p.A529T|PDE8B_uc003kfb.3_Missense_Mutation_p.A606T|PDE8B_uc003kfc.3_Missense_Mutation_p.A571T	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	626	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGTCCTGCACGCCACCGCTTT	0.478													A	76709099	G	A	76709099	3	1	96	1	0	0	0	0	1	0	0	0	11654	1087	38	1	1942	1	PDE8B	5	76709099	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	10292230	76709099	104206161	57	6301											
FBXL17	64839	broad.mit.edu	37	5	107684192	107684192	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:107684192C>T	uc011cvc.2	-	3	1821	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	FBXL17_uc003kon.4_Missense_Mutation_p.G74S	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	472										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TAACACTGGCCGAAATGAATA	0.368													T	107684192	C	T	107684192	3	4	96	1	0	0	0	0	1	0	0	0	5713	652	23	2	715	2	FBXL17	5	107684192	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	30975093	107684192	73231068	58	6302											
KCNN2	3781	broad.mit.edu	37	5	113740527	113740527	+	Silent	SNP	C	C	T	rs147034356	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:113740527C>T	uc003kqo.3	+	2	1432	c.975C>T	c.(973-975)gcC>gcT	p.A325A		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	325						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A325G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GGATAATTGCCGCATGGACTG	0.328													T	113740527	C	T	113740527	2	4	96	1	0	0	0	0	0	0	0	1	8079	639	23	2		2	KCNN2	5	113740527	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	6056335	113740527	67174733	59	6303											
PCDHAC2	56145	broad.mit.edu	37	5	140180853	140180853	+	Missense_Mutation	SNP	C	C	T	rs147990915		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140180853C>T	uc003lhf.2	+	0	71	c.71C>T	c.(70-72)tCg>tTg	p.S24L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S24L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	37					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCAGCCTCGGAGGTGGGG	0.597													T	140180853	C	T	140180853	3	4	96	1	0	0	0	0	1	0	0	0	11533	893	31	2		2	PCDHAC2	5	140180853	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	26440326	140180853	40734407	60	6304											
PCDHAC2	56144	broad.mit.edu	37	5	140188279	140188279	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140188279G>A	uc003lhi.2	+	0	1608	c.1507G>A	c.(1507-1509)Gcg>Acg	p.A503T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.A503T|PCDHAC2_uc011daa.2_Missense_Mutation_p.A503T	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	517	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGAGCGCGCGCTGTCGAG	0.662													A	140188279	G	A	140188279	3	1	96	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140188279	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	7426	140188279	40726981	61	6305											
PCDHB4	56131	broad.mit.edu	37	5	140502471	140502471	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140502471G>A	uc003lip.1	+	0	891	c.891G>A	c.(889-891)acG>acA	p.T297T		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	297	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			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)			ATGAAGTCACGGGAGAAATAC	0.358													A	140502471	G	A	140502471	2	1	96	1	0	0	0	0	0	0	0	1	11544	1103	39	2		2	PCDHB4	5	140502471	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	314192	140502471	40412789	62	6306											
PCDHGC5	56114	broad.mit.edu	37	5	140712338	140712338	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140712338C>T	uc003lji.2	+	0	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGC5_uc011dan.2_Missense_Mutation_p.A696V	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	697					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A696V(2)|p.I695N(1)		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)			CTGGTGGTGGCGGCGGCCGCG	0.672													T	140712338	C	T	140712338	3	4	96	1	0	0	0	0	1	0	0	0	11571	768	27	1		1	PCDHGC5	5	140712338	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	209867	140712338	40202922	63	6307											
PCDHGC5	56100	broad.mit.edu	37	5	140789386	140789386	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140789386G>A	uc003lkj.2	+	0	1617	c.1617G>A	c.(1615-1617)tcG>tcA	p.S539S	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.S539S	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	541	Cadherin 5.				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)			ACCACGGCTCGCCCACGCTCA	0.701													A	140789386	G	A	140789386	2	1	96	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHGC5	5	140789386	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	77048	140789386	40125874	64	6308											
PCDHGC5	56105	broad.mit.edu	37	5	140802272	140802272	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140802272C>T	uc003lkq.2	+	0	1736	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.T493M|PCDHGC5_uc003lkp.2_Missense_Mutation_p.T493M	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	494	Cadherin 5.				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)			TACTCTCTGACGGATGACACT	0.532													T	140802272	C	T	140802272	3	4	96	1	0	0	0	0	1	0	0	0	11571	536	19	1		1	PCDHGC5	5	140802272	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	12886	140802272	40112988	65	6309											
PDGFRB	5159	broad.mit.edu	37	5	149497261	149497261	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:149497261G>A	uc003lro.3	-	21	3526	c.3057C>T	c.(3055-3057)aaC>aaT	p.N1019N	PDGFRB_uc010jhd.3_Silent_p.N858N	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1019					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.N1019N(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATATAGTCGTTGTCACCCT	0.642			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								A	149497261	G	A	149497261	2	1	96	1	0	0	0	0	0	0	0	1	11662	1136	40	1		1	PDGFRB	5	149497261	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	8694989	149497261	31417999	66	6310											
FGF18	8817	broad.mit.edu	37	5	170883601	170883601	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:170883601C>T	uc003mbk.3	+	4	953	c.416C>T	c.(415-417)aCg>aTg	p.T139M		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	139					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACAACTACACGGCCCTGATG	0.592													T	170883601	C	T	170883601	3	4	96	1	0	0	0	0	1	0	0	0	5846	536	19	1	434	1	FGF18	5	170883601	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	21386340	170883601	10031659	67	6311											
TSPAN17	26262	broad.mit.edu	37	5	176078841	176078841	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:176078841G>A	uc003met.3	+	2	454	c.225G>A	c.(223-225)tcG>tcA	p.S75S	TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.3_Silent_p.S75S|TSPAN17_uc003mew.3_Silent_p.S75S	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	75						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTCATGTCGGTGCTGGGCT	0.612													A	176078841	G	A	176078841	2	1	96	1	0	0	0	0	0	0	0	1	16638	1103	39	2		2	TSPAN17	5	176078841	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	5195240	176078841	4836419	68	6312											
WRNIP1	56897	broad.mit.edu	37	6	2770518	2770518	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:2770518C>T	uc003mtz.3	+	2	1370	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	WRNIP1_uc003mua.3_Silent_p.I368I	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	393					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGCGAGCGATCAACTCCCTGG	0.532													T	2770518	C	T	2770518	2	4	96	1	0	0	0	0	0	0	0	1	17400	816	29	3		3	WRNIP1	6	2770518	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		2770518	168344549	69	6313											
SLC35B3	51000	broad.mit.edu	37	6	8422856	8422856	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:8422856T>C	uc011did.2	-	5	797	c.420_splice	c.e5-1	p.R140_splice	SLC35B3_uc003myc.3_Intron|SLC35B3_uc003myd.3_Splice_Site|SLC35B3_uc010joe.3_Splice_Site_p.R140_splice|SLC35B3_uc003myb.3_Splice_Site_p.R140_splice	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	140					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTTCCTGGTATTCTGTAAAAG	0.338													C	8422856	T	C	8422856	3	2	96	1	0	0	0	0	1	0	0	0	14577	1507	52	4	812	4	SLC35B3	6	8422856	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	5652338	8422856	162692211	70	6314											
HIVEP1	3096	broad.mit.edu	37	6	12124017	12124017	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:12124017C>T	uc003nac.3	+	3	4168	c.3989C>T	c.(3988-3990)aCg>aTg	p.T1330M	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1330					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.T1330T(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)				GTTTCTAAAACGGAGGCTTCC	0.433													T	12124017	C	T	12124017	3	4	96	1	0	0	0	0	1	0	0	0	7186	536	19	1	3999	1	HIVEP1	6	12124017	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3701161	12124017	158991050	71	6315											
SIRT5	23408	broad.mit.edu	37	6	13588650	13588650	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:13588650C>T	uc003nay.3	+	3	515	c.203C>T	c.(202-204)cCg>cTg	p.P68L	SIRT5_uc003naw.3_Missense_Mutation_p.P68L|SIRT5_uc003nax.3_Intron|SIRT5_uc011dit.2_Missense_Mutation_p.P68L	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	68	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	AGTGGTGTTCCGACCTTCAGA	0.423													T	13588650	C	T	13588650	3	4	96	1	0	0	0	0	1	0	0	0	14341	652	23	2	209	2	SIRT5	6	13588650	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1464633	13588650	157526417	72	6316											
SCAND3	114821	broad.mit.edu	37	6	28554340	28554340	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:28554340C>T	uc003nlo.3	-	0	773	c.155G>A	c.(154-156)cGt>cAt	p.R52H	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	52	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAAGCGCTGACGAGAGAGTTC	0.507													T	28554340	C	T	28554340	3	4	96	1	0	0	0	0	1	0	0	0	13876	536	19	1	3838	1	SCAND3	6	28554340	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	14965690	28554340	142560727	73	6317											
CSNK2B	1460	broad.mit.edu	37	6	31637206	31637206	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:31637206G>A	uc003nvr.1	+	5	818	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.	160					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CGCCTACTTCGGCACTGGTTT	0.562													A	31637206	G	A	31637206	3	1	96	1	0	0	0	0	1	0	0	0	3959	1116	39	2	496	2	CSNK2B	6	31637206	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3082866	31637206	139477861	74	6318											
EHMT2	10919	broad.mit.edu	37	6	31852241	31852241	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:31852241G>A	uc003nxz.1	-	20	2709	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	EHMT2_uc003nxx.1_Missense_Mutation_p.A98V|EHMT2_uc003nxy.1_Missense_Mutation_p.A698V|EHMT2_uc011don.1_Missense_Mutation_p.A923V|EHMT2_uc003nya.1_Missense_Mutation_p.A866V	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	900					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGTTGAAGCGCAAACCACAC	0.612													A	31852241	G	A	31852241	3	1	96	1	0	0	0	0	1	0	0	0	4984	1087	38	1	965	1	EHMT2	6	31852241	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	215035	31852241	139262826	75	6319											
CYP21A2	1589	broad.mit.edu	37	6	32008215	32008215	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:32008215C>T	uc003nze.2	+	7	1079	c.972C>T	c.(970-972)caC>caT	p.H324H	CYP21A2_uc003nzf.2_Silent_p.H294H	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	323					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AGCTAGACCACGAACTGGGCC	0.677													T	32008215	C	T	32008215	2	4	96	1	0	0	0	0	0	0	0	1	4153	535	19	1		1	CYP21A2	6	32008215	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	155974	32008215	139106852	76	6320											
USP49	25862	broad.mit.edu	37	6	41773646	41773646	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:41773646C>T	uc003ori.3	-	3	1298	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	359					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCAGTTCACGGCAGAGGGA	0.602													T	41773646	C	T	41773646	3	4	96	1	0	0	0	0	1	0	0	0	17077	536	19	1	862	1	USP49	6	41773646	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	9765431	41773646	129341421	77	6321											
GPR116	221395	broad.mit.edu	37	6	46836637	46836637	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:46836637G>A	uc003oyo.3	-	11	1893	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	GPR116_uc011dwj.1_Missense_Mutation_p.S90L|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.S393L|GPR116_uc003oyq.3_Missense_Mutation_p.S535L|GPR116_uc010jzi.1_Missense_Mutation_p.S207L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	535	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTCCCTGGTCGAGGTCTTGAC	0.448													A	46836637	G	A	46836637	3	1	96	1	0	0	0	0	1	0	0	0	6633	1059	37	2	2476	2	GPR116	6	46836637	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5062991	46836637	124278430	78	6322											
GPR116	221395	broad.mit.edu	37	6	46836810	46836810	+	Silent	SNP	C	C	T	rs150327469		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:46836810C>T	uc003oyo.3	-	11	1720	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	GPR116_uc011dwj.1_Silent_p.P32P|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Silent_p.P335P|GPR116_uc003oyq.3_Silent_p.P477P|GPR116_uc010jzi.1_Silent_p.P149P	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	477	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAATTGGGTCCGGGGTTATTG	0.363													T	46836810	C	T	46836810	2	4	96	1	0	0	0	0	0	0	0	1	6633	639	23	2		2	GPR116	6	46836810	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	173	46836810	124278257	79	6323											
TAB2	23118	broad.mit.edu	37	6	149699411	149699411	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:149699411A>G	uc003qmj.3	+	2	538	c.360A>G	c.(358-360)gaA>gaG	p.E120E	TAB2_uc011eec.2_Silent_p.E88E|TAB2_uc010kia.1_Silent_p.E120E|TAB2_uc010kib.2_Silent_p.E120E|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	120					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCAATAGTGAACTATTTCAGC	0.458													G	149699411	A	G	149699411	2	3	96	1	0	0	0	0	0	0	0	1	15493	40	2	4		4	TAB2	6	149699411	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	102862601	149699411	21415656	80	6324											
MLLT4	4301	broad.mit.edu	37	6	168348980	168348980	+	Missense_Mutation	SNP	C	C	T	rs145954704	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:168348980C>T	uc021zik.1	+	27	3828	c.3509C>T	c.(3508-3510)aCg>aTg	p.T1170M	MLLT4_uc003qwb.1_Missense_Mutation_p.T1195M|MLLT4_uc003qwc.2_Missense_Mutation_p.T1211M|MLLT4_uc021zij.1_Missense_Mutation_p.T1194M|MLLT4_uc021zim.1_Missense_Mutation_p.T757M|MLLT4_uc003qwg.1_Missense_Mutation_p.T520M	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1211					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGGAGCAGACGCCTCCGCCT	0.418			T	MLL	AL								T	168348980	C	T	168348980	3	4	96	1	0	0	0	0	1	0	0	0	9629	536	19	1	3742	1	MLLT4	6	168348980	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	18649569	168348980	2766087	81	6325											
SDK1	221935	broad.mit.edu	37	7	4091337	4091337	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:4091337G>A	uc003smx.3	+	18	2925	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E	SDK1_uc010kso.3_Missense_Mutation_p.G205E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	929	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GATTTCCACGGAGTCCACCAT	0.567													A	4091337	G	A	4091337	3	1	96	1	0	0	0	0	1	0	0	0	13968	1174	41	3	2860	3	SDK1	7	4091337	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		4091337	155047326	82	6326											
PAPOLB	56903	broad.mit.edu	37	7	4900644	4900644	+	Silent	SNP	C	C	T	rs112213840		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:4900644C>T	uc003snk.3	-	0	982	c.798G>A	c.(796-798)gcG>gcA	p.A266A	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	265					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CAAGAGTTGACGCTACTGCAT	0.428													T	4900644	C	T	4900644	2	4	96	1	0	0	0	0	0	0	0	1	11430	523	19	1		1	PAPOLB	7	4900644	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	809307	4900644	154238019	83	6327											
FBXL18	80028	broad.mit.edu	37	7	5521489	5521489	+	Silent	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:5521489G>T	uc003son.4	-	4	2168	c.2074C>A	c.(2074-2076)Cgg>Agg	p.R692R		NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGACGTCCCGGATGACGTCG	0.642													T	5521489	G	T	5521489	2	4	96	1	0	0	0	0	0	0	0	1	5714	1115	39	5		5	FBXL18	7	5521489	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	620845	5521489	153617174	84	6328											
FBXL18	80028	broad.mit.edu	37	7	5540355	5540355	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:5540355G>A	uc003soo.2	-	2	1639	c.1545C>T	c.(1543-1545)cgC>cgT	p.R515R	FBXL18_uc003son.4_Silent_p.R515R	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	515									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CACTCTGTGCGCGGCTGCAGG	0.687													A	5540355	G	A	5540355	2	1	96	1	0	0	0	0	0	0	0	1	5714	1074	38	1		1	FBXL18	7	5540355	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	18866	5540355	153598308	85	6329											
MRPL32	64983	broad.mit.edu	37	7	42974713	42974713	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:42974713C>T	uc003tia.3	+	1	337	c.290C>T	c.(289-291)cCg>cTg	p.P97L	C7orf25_uc010kxr.3_5'Flank|PSMA2_uc003thy.3_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	97					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AGAAGAAATCCGCAGAAGCTT	0.408													T	42974713	C	T	42974713	3	4	96	1	0	0	0	0	1	0	0	0	9795	652	23	2	296	2	MRPL32	7	42974713	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	37434358	42974713	116163950	86	6330											
ZMIZ2	83637	broad.mit.edu	37	7	44806136	44806136	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:44806136G>A	uc003tlr.3	+	17	2652	c.2529G>A	c.(2527-2529)gcG>gcA	p.A843A	ZMIZ2_uc003tlq.3_Silent_p.A785A|ZMIZ2_uc003tls.3_Silent_p.A817A|ZMIZ2_uc003tlt.3_Silent_p.A466A|ZMIZ2_uc010kyj.3_Silent_p.A365A|ZMIZ2_uc003tlu.3_Silent_p.A124A|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	843	Pro-rich.				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			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						CTCCCCCAGCGTCCCGGCAGT	0.647													A	44806136	G	A	44806136	2	1	96	1	0	0	0	0	0	0	0	1	17694	1132	40	1		1	ZMIZ2	7	44806136	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1831423	44806136	114332527	87	6331											
TNS3	64759	broad.mit.edu	37	7	47342939	47342939	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:47342939G>A	uc003tnw.3	-	21	3424	c.3066C>T	c.(3064-3066)ttC>ttT	p.F1022F	TNS3_uc022acn.1_Silent_p.F579F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1022						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGCGGTGCCGAAGCCCAGGA	0.682													A	47342939	G	A	47342939	2	1	96	1	0	0	0	0	0	0	0	1	16341	1049	37	2		2	TNS3	7	47342939	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2536803	47342939	111795724	88	6332											
POM121L12	285877	broad.mit.edu	37	7	53104043	53104043	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:53104043G>T	uc003tpz.3	+	0	695	c.679G>T	c.(679-681)Gct>Tct	p.A227S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	227								p.A227S(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGAGCGGTTGCTTCCTTCGT	0.647													T	53104043	G	T	53104043	3	4	96	1	0	0	0	0	1	0	0	0	12241	1319	46	5	681	5	POM121L12	7	53104043	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5761104	53104043	106034620	89	6333											
ZNF107	51427	broad.mit.edu	37	7	64168851	64168851	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:64168851A>G	uc003ttd.3	+	6	2955	c.2169A>G	c.(2167-2169)gaA>gaG	p.E723E	ZNF107_uc003tte.3_Silent_p.E723E	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACAAATGTGAAGAATGTGGCA	0.348													G	64168851	A	G	64168851	2	3	96	1	0	0	0	0	0	0	0	1	17712	69	3	4		4	ZNF107	7	64168851	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	11064808	64168851	94969812	90	6334											
CALN1	83698	broad.mit.edu	37	7	71252795	71252795	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:71252795C>T	uc003twb.4	-	6	1142	c.751G>A	c.(751-753)Gca>Aca	p.A251T	CALN1_uc003twa.4_Missense_Mutation_p.A209T|CALN1_uc003twc.4_Missense_Mutation_p.A209T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	209						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGTTGGCTGCAATCAGCATG	0.587													T	71252795	C	T	71252795	3	4	96	1	0	0	0	0	1	0	0	0	2591	710	25	3	38	3	CALN1	7	71252795	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7083944	71252795	87885868	91	6335											
RHBDD2	57414	broad.mit.edu	37	7	75511205	75511205	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:75511205C>T	uc003udw.1	+	1	321	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RHBDD2_uc003udv.1_5'UTR	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	79						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGCTCTGCGGCGCTATCATCA	0.567													T	75511205	C	T	75511205	2	4	96	1	0	0	0	0	0	0	0	1	13317	755	27	1		1	RHBDD2	7	75511205	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	4258410	75511205	83627458	92	6336											
ZAN	7455	broad.mit.edu	37	7	100350423	100350423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:100350423C>T	uc003uwj.3	+	13	2860	c.2695C>T	c.(2695-2697)Ctc>Ttc	p.L899F	ZAN_uc003uwk.3_Missense_Mutation_p.L899F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	899	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			CACAGAAAAACTCACCATCCC	0.517													T	100350423	C	T	100350423	3	4	96	1	0	0	0	0	1	0	0	0	17510	565	20	3	2745	3	ZAN	7	100350423	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	24839218	100350423	58788240	93	6337											
SLC26A5	375611	broad.mit.edu	37	7	103014906	103014906	+	Silent	SNP	C	C	A	rs138320783	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:103014906C>A	uc003vbz.3	-	19	2437	c.2175G>T	c.(2173-2175)tcG>tcT	p.S725S	SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.S693S	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	725					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAGGGGGAGCCGAGGCTTCCT	0.532													A	103014906	C	A	103014906	2	1	96	1	0	0	0	0	0	0	0	1	14520	639	23	5		5	SLC26A5	7	103014906	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2664483	103014906	56123757	94	6338											
RELN	5649	broad.mit.edu	37	7	103162532	103162532	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:103162532G>A	uc022ajr.1	-	47	7765	c.7605C>T	c.(7603-7605)aaC>aaT	p.N2535N	RELN_uc022ajq.1_Silent_p.N2535N|RELN_uc010liz.3_Silent_p.N2535N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2535					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			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)		ATTTCCCTCCGTTCACAGTCA	0.532													A	103162532	G	A	103162532	2	1	96	1	0	0	0	0	0	0	0	1	13220	1136	40	1		1	RELN	7	103162532	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	147626	103162532	55976131	95	6339											
CTTNBP2	83992	broad.mit.edu	37	7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T	rs35288952		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:117375046C>T	uc003vjf.3	-	15	3889	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1266										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCACCCAGCGGAAATGCTG	0.532													T	117375046	C	T	117375046	3	4	96	1	0	0	0	0	1	0	0	0	4045	768	27	1	1226	1	CTTNBP2	7	117375046	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	14212514	117375046	41763617	96	6340											
AASS	10157	broad.mit.edu	37	7	121773679	121773679	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:121773679G>A	uc003vka.3	-	0	198	c.102C>T	c.(100-102)aaC>aaT	p.N34N	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.N34N|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	34	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCTCCCAGGCGTTCACATCCT	0.582													A	121773679	G	A	121773679	2	1	96	1	0	0	0	0	0	0	0	1	24	1136	40	1		1	AASS	7	121773679	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	4398633	121773679	37364984	97	6341											
NRF1	4899	broad.mit.edu	37	7	129357145	129357145	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:129357145G>A	uc003vpa.3	+	8	1272	c.1152G>A	c.(1150-1152)tcG>tcA	p.S384S	NRF1_uc003voz.3_Silent_p.S384S|NRF1_uc011kpa.2_Silent_p.S223S|NRF1_uc003vpb.3_Silent_p.S384S	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	384	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CGGTGGCATCGTTGGCAGAGG	0.572													A	129357145	G	A	129357145	2	1	96	1	0	0	0	0	0	0	0	1	10646	1132	40	1		1	NRF1	7	129357145	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	7583466	129357145	29781518	98	6342											
CPA1	1357	broad.mit.edu	37	7	130021608	130021608	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:130021608G>A	uc003vpx.3	+	2	357	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_uc011kpf.1_Silent_p.S7S|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	95					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	130021608	G	A	130021608	2	1	96	1	0	0	0	0	0	0	0	1	3789	1074	38	1		1	CPA1	7	130021608	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	664463	130021608	29117055	99	6343											
HIPK2	28996	broad.mit.edu	37	7	139259877	139259877	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:139259877G>C	uc003vvf.4	-	13	3394	c.3123C>G	c.(3121-3123)agC>agG	p.S1041R	HIPK2_uc003vvd.4_Missense_Mutation_p.S1014R	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	1041	Autoinhibitory domain (AID).|Interaction with AXIN1 (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGCTTACCTGGCTGAGATTGA	0.672													C	139259877	G	C	139259877	3	2	96	1	0	0	0	0	1	0	0	0	7117	1194	42	5	481	5	HIPK2	7	139259877	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	9238269	139259877	19878786	100	6344											
ZNF425	155054	broad.mit.edu	37	7	148815402	148815402	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:148815402C>T	uc003wfj.3	-	1	190	c.57G>A	c.(55-57)tcG>tcA	p.S19S		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	19	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.S19S(2)		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)			ACTCTTGTTCCGAAAAATATA	0.393													T	148815402	C	T	148815402	2	4	96	1	0	0	0	0	0	0	0	1	17896	639	23	2		2	ZNF425	7	148815402	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	9555525	148815402	10323261	101	6345											
SLC4A2	6522	broad.mit.edu	37	7	150771186	150771186	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:150771186G>A	uc022apz.1	+	16	3636	c.2596G>A	c.(2596-2598)Ggt>Agt	p.G866S	SLC4A2_uc003wit.4_Missense_Mutation_p.G866S|SLC4A2_uc011kve.2_Missense_Mutation_p.G857S|SLC4A2_uc003wiu.4_Missense_Mutation_p.G852S	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	866	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGACGGCGGTGAGAACAT	0.677													A	150771186	G	A	150771186	3	1	96	1	0	0	0	0	1	0	0	0	14654	1116	39	2	2658	2	SLC4A2	7	150771186	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1955784	150771186	8367477	102	6346											
MLL3	58508	broad.mit.edu	37	7	151878185	151878185	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:151878185C>T	uc003wla.3	-	35	6979	c.6760G>A	c.(6760-6762)Gca>Aca	p.A2254T	MLL3_uc003wkz.3_Missense_Mutation_p.A1315T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2254	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.A2254T(3)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CGGTTTTGTGCTGCTTGCAGG	0.527			N		medulloblastoma								T	151878185	C	T	151878185	3	4	96	1	0	0	0	0	1	0	0	0	9622	797	28	3	8071	3	MLL3	7	151878185	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1106999	151878185	7260478	103	6347											
HTR5A	3361	broad.mit.edu	37	7	154863298	154863298	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:154863298G>A	uc003wlu.1	+	0	753	c.689G>A	c.(688-690)cGc>cAc	p.R230H	LOC100128264_uc003wlt.2_5'Flank|LOC100128264_uc011kvt.1_5'Flank	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	230						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCAAGTTCCGCGTGGGCTCC	0.542													A	154863298	G	A	154863298	3	1	96	1	0	0	0	0	1	0	0	0	7450	1087	38	1	691	1	HTR5A	7	154863298	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2985113	154863298	4275365	104	6348											
PTPRN2	5799	broad.mit.edu	37	7	157370776	157370776	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:157370776G>A	uc003wno.3	-	17	2674	c.2553C>T	c.(2551-2553)aaC>aaT	p.N851N	PTPRN2_uc003wnp.3_Silent_p.N834N|PTPRN2_uc003wnq.3_Silent_p.N822N|PTPRN2_uc003wnr.3_Silent_p.N813N|PTPRN2_uc011kwa.2_Silent_p.N874N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	851	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGGACGCCGTTCTCCGCGA	0.622													A	157370776	G	A	157370776	2	1	96	1	0	0	0	0	0	0	0	1	12808	1136	40	1		1	PTPRN2	7	157370776	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2507478	157370776	1767887	105	6349											
VIPR2	7434	broad.mit.edu	37	7	158896531	158896531	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:158896531T>C	uc003woh.3	-	3	460	c.274A>G	c.(274-276)Aac>Gac	p.N92D	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	92					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTCGTACAGTTTTTGCTTATG	0.512													C	158896531	T	C	158896531	3	2	96	1	0	0	0	0	1	0	0	0	17167	1841	64	4	1082	4	VIPR2	7	158896531	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	1525755	158896531	242132	106	6350											
KIAA1429	25962	broad.mit.edu	37	8	95521969	95521969	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:95521969G>A	uc003ygo.2	-	14	3897	c.3826C>T	c.(3826-3828)Cgc>Tgc	p.R1276C	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1276					mRNA processing|RNA splicing	nucleus				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)			CACTGTTGGCGAATAACACTG	0.373													A	95521969	G	A	95521969	3	1	96	1	0	0	0	0	1	0	0	0	8231	1058	37	2	1652	2	KIAA1429	8	95521969	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		95521969	50842053	107	6351											
TG	7038	broad.mit.edu	37	8	133880437	133880437	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:133880437G>A	uc003ytw.3	+	1	186	c.145G>A	c.(145-147)Gtg>Atg	p.V49M		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	49	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			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)		AGCAGACTACGTGCCCCAGTG	0.532													A	133880437	G	A	133880437	3	1	96	1	0	0	0	0	1	0	0	0	15810	1145	40	1	151	1	TG	8	133880437	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	38358468	133880437	12483585	108	6352											
ZNF623	9831	broad.mit.edu	37	8	144732159	144732159	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:144732159G>A	uc003yzd.2	+	0	206	c.117G>A	c.(115-117)acG>acA	p.T39T	ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T39T(2)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGACTCACGGTGATGGAGC	0.522													A	144732159	G	A	144732159	2	1	96	1	0	0	0	0	0	0	0	1	18044	1103	39	2		2	ZNF623	8	144732159	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	10851722	144732159	1631863	109	6353											
KIAA2026	158358	broad.mit.edu	37	9	5988438	5988438	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:5988438C>T	uc003zjq.4	-	1	917	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	234								p.R234Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGCCAAACTTCGCGGTGTTGA	0.423													T	5988438	C	T	5988438	3	4	96	1	0	0	0	0	1	0	0	0	8270	884	31	2	5638	2	KIAA2026	9	5988438	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		5988438	135224993	110	6354											
ACER2	340485	broad.mit.edu	37	9	19423911	19423911	+	Missense_Mutation	SNP	C	C	T	rs145427232		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:19423911C>T	uc003zny.1	+	1	318	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Missense_Mutation_p.R5C	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.	54					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	p.R54C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						GTGCTTGTTTCGTCAGTATGC	0.398													T	19423911	C	T	19423911	3	4	96	1	0	0	0	0	1	0	0	0	139	884	31	2	166	2	ACER2	9	19423911	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	13435473	19423911	121789520	111	6355											
CCIN	881	broad.mit.edu	37	9	36169599	36169599	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:36169599G>A	uc003zzb.4	+	0	211	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	34	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGCCCTGAGTGTGGACAACCA	0.502													A	36169599	G	A	36169599	3	1	96	1	0	0	0	0	1	0	0	0	2878	1377	48	3	102	3	CCIN	9	36169599	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	16745688	36169599	105043832	112	6356											
SVEP1	79987	broad.mit.edu	37	9	113228166	113228166	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:113228166C>T	uc010mtz.3	-	17	3638	c.3301G>A	c.(3301-3303)Gtg>Atg	p.V1101M	SVEP1_uc010mua.1_Missense_Mutation_p.V1101M	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1101					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAATGTTCACGGCTCCTCTT	0.438													T	113228166	C	T	113228166	3	4	96	1	0	0	0	0	1	0	0	0	15417	536	19	1	7538	1	SVEP1	9	113228166	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	77058567	113228166	27985265	113	6357											
COL27A1	85301	broad.mit.edu	37	9	116994128	116994128	+	Silent	SNP	C	C	T	rs144760825		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:116994128C>T	uc011lxl.2	+	15	2547	c.2547C>T	c.(2545-2547)ccC>ccT	p.P849P	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	849	Collagen-like 4.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGGGGAGCCCGGACTGAAAG	0.577													T	116994128	C	T	116994128	2	4	96	1	0	0	0	0	0	0	0	1	3685	639	23	2		2	COL27A1	9	116994128	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	3765962	116994128	24219303	114	6358											
DAB2IP	153090	broad.mit.edu	37	9	124528842	124528842	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:124528842G>A	uc004bln.3	+	8	1515	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	DAB2IP_uc004blo.3_Silent_p.P386P|DAB2IP_uc004blp.3_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	510	Ras-GAP.			I -> T (in Ref. 1; AAM00371).	activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	p.A481T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCGGCCGCCCGGACATCAGTG	0.617													A	124528842	G	A	124528842	2	1	96	1	0	0	0	0	0	0	0	1	4219	1103	39	2		2	DAB2IP	9	124528842	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	7534714	124528842	16684589	115	6359											
RC3H2	54542	broad.mit.edu	37	9	125617558	125617558	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:125617558G>A	uc010mwc.1	-	14	2961	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.A907V|RC3H2_uc004bne.4_Missense_Mutation_p.A907V	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	907						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCTGGAAATCGCACCCCATTT	0.443													A	125617558	G	A	125617558	3	1	96	1	0	0	0	0	1	0	0	0	13167	1087	38	1	961	1	RC3H2	9	125617558	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1088716	125617558	15595873	116	6360											
STRBP	55342	broad.mit.edu	37	9	125922701	125922701	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:125922701C>T	uc004bns.3	-	7	1110	c.668G>A	c.(667-669)cGc>cAc	p.R223H	STRBP_uc004bnt.3_Missense_Mutation_p.R41H|STRBP_uc004bnu.3_Missense_Mutation_p.R209H|STRBP_uc004bnv.3_Missense_Mutation_p.R223H	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	223	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACGCAGAATGCGGAGGACAAT	0.393													T	125922701	C	T	125922701	3	4	96	1	0	0	0	0	1	0	0	0	15326	768	27	1	1398	1	STRBP	9	125922701	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	305143	125922701	15290730	117	6361											
NTNG2	84628	broad.mit.edu	37	9	135073844	135073844	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:135073844G>A	uc004cbh.2	+	2	1481	c.705G>A	c.(703-705)acG>acA	p.T235T		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	235	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCTCTACACGCGGCTGGAGA	0.677													A	135073844	G	A	135073844	2	1	96	1	0	0	0	0	0	0	0	1	10705	1074	38	1		1	NTNG2	9	135073844	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	9151143	135073844	6139587	118	6362											
SEC16A	9919	broad.mit.edu	37	9	139350207	139350207	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:139350207C>T	uc004chx.3	-	19	6012	c.5703G>A	c.(5701-5703)ccG>ccA	p.P1901P	SEC16A_uc004chs.3_5'Flank|SEC16A_uc004cht.3_5'Flank|SEC16A_uc004chu.3_Silent_p.P86P|SEC16A_uc004chv.4_Silent_p.P1291P|SEC16A_uc004chw.3_Silent_p.P1901P|SEC16A_uc010nbn.3_Silent_p.P1901P	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1723	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GACACTGCTGCGGGAGGGCTC	0.667													T	139350207	C	T	139350207	2	4	96	1	0	0	0	0	0	0	0	1	13986	755	27	1		1	SEC16A	9	139350207	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	4276363	139350207	1863224	119	6363											
SLC34A3	142680	broad.mit.edu	37	9	140128881	140128881	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140128881G>A	uc022bqf.1	+	10	1328	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	SLC34A3_uc011met.2_Silent_p.P369P|SLC34A3_uc004cmf.1_Silent_p.P369P	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	369					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCCCTTCCCGCTGGGCTGGC	0.716													A	140128881	G	A	140128881	2	1	96	1	0	0	0	0	0	0	0	1	14569	1074	38	1		1	SLC34A3	9	140128881	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	778674	140128881	1084550	120	6364											
PNPLA7	375775	broad.mit.edu	37	9	140356687	140356687	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140356687G>A	uc010ncj.1	-	30	3926	c.3589C>T	c.(3589-3591)Cgc>Tgc	p.R1197C	PNPLA7_uc004cnd.1_Missense_Mutation_p.R419C|PNPLA7_uc004cne.1_Missense_Mutation_p.R438C|PNPLA7_uc011mfa.1_Missense_Mutation_p.R580C|PNPLA7_uc004cnf.2_Missense_Mutation_p.R1172C|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1172					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATGGGGGGGCGCAGGTACTCG	0.647													A	140356687	G	A	140356687	3	1	96	1	0	0	0	0	1	0	0	0	12170	1087	38	1	459	1	PNPLA7	9	140356687	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	227806	140356687	856744	121	6365											
PNPLA7	375775	broad.mit.edu	37	9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140361890G>A	uc010ncj.1	-	25	3255	c.2918C>T	c.(2917-2919)gCg>gTg	p.A973V	PNPLA7_uc004cnd.1_Missense_Mutation_p.A214V|PNPLA7_uc004cne.1_Missense_Mutation_p.A214V|PNPLA7_uc011mfa.1_Missense_Mutation_p.A356V|PNPLA7_uc004cnf.2_Missense_Mutation_p.A948V	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	948	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652													A	140361890	G	A	140361890	3	1	96	1	0	0	0	0	1	0	0	0	12170	1087	38	1	1150	1	PNPLA7	9	140361890	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5203	140361890	851541	122	6366											
MYO3A	53904	broad.mit.edu	37	10	26243811	26243811	+	Silent	SNP	C	C	T	rs139958275	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:26243811C>T	uc001isn.2	+	3	537	c.177C>T	c.(175-177)gaC>gaT	p.D59D	MYO3A_uc009xko.1_Silent_p.D59D|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.D59D|MYO3A_uc001ism.2_Silent_p.D59D	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	59	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			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						AGGATATTGACGAAGAGATTG	0.313													T	26243811	C	T	26243811	2	4	96	1	0	0	0	0	0	0	0	1	10076	535	19	1		1	MYO3A	10	26243811	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		26243811	109290936	123	6367											
HNRNPH3	3189	broad.mit.edu	37	10	70097039	70097039	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:70097039C>T	uc001jnw.4	+	1	290	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	HNRNPH3_uc001jnx.4_Missense_Mutation_p.R21C|HNRNPH3_uc009xpu.3_5'UTR|HNRNPH3_uc010qiv.2_Missense_Mutation_p.R21C|HNRNPH3_uc001jny.4_5'Flank	NM_012207	NP_036339	P31942	HNRH3_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H3 (2H9) (HNRNPH3), transcript variant 2H9, mRNA.	21	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AGTACGACTTCGTGGACTACC	0.338													T	70097039	C	T	70097039	3	4	96	1	0	0	0	0	1	0	0	0	7268	884	31	2	63	2	HNRNPH3	10	70097039	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	43853228	70097039	65437708	124	6368											
RGR	5995	broad.mit.edu	37	10	86008738	86008738	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:86008738G>A	uc001kdd.1	+	2	347	c.309G>A	c.(307-309)gcG>gcA	p.A103A	RGR_uc001kdb.1_Missense_Mutation_p.V87I|RGR_uc001kdc.1_Silent_p.A99A|RGR_uc001kde.1_Silent_p.A99A	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	99					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	p.A103A(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TTGTGACAGCGTTGGCCAGCA	0.637													A	86008738	G	A	86008738	2	1	96	1	0	0	0	0	0	0	0	1	13291	1132	40	1		1	RGR	10	86008738	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	15911699	86008738	49526009	125	6369											
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	96	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3708934	89717672	45817075	126	6370											
PLCE1	51196	broad.mit.edu	37	10	95995711	95995711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:95995711C>T	uc001kjk.3	+	6	2888	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	PLCE1_uc010qnx.2_Nonsense_Mutation_p.R752*|PLCE1_uc001kjm.3_Nonsense_Mutation_p.R444*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	752	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTCTTACAACGAGTGGGACA	0.408													T	95995711	C	T	95995711	4	4	96	1	0	0	0	0	0	1	0	0	12034	528	19	1	2562	1	PLCE1	10	95995711	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	6278039	95995711	39539036	127	6371											
SORCS1	114815	broad.mit.edu	37	10	108923845	108923845	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:108923845G>T	uc001kyl.3	-	0	622	c.440C>A	c.(439-441)cCg>cAg	p.P147Q	SORCS1_uc021pxw.1_Missense_Mutation_p.P147Q|SORCS1_uc009xxs.3_Missense_Mutation_p.P147Q|SORCS1_uc001kym.3_Missense_Mutation_p.P147Q|SORCS1_uc001kyn.2_Missense_Mutation_p.P147Q|SORCS1_uc001kyo.3_Missense_Mutation_p.P147Q	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	147						integral to membrane	neuropeptide receptor activity|protein binding			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)		GGCTTTGTCCGGGTCCCGCTC	0.652													T	108923845	G	T	108923845	3	4	96	1	0	0	0	0	1	0	0	0	14930	1116	39	5	3404	5	SORCS1	10	108923845	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	12928134	108923845	26610902	128	6372											
SEC23IP	11196	broad.mit.edu	37	10	121663608	121663608	+	Missense_Mutation	SNP	C	C	T	rs147722288	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:121663608C>T	uc001leu.2	+	3	1130	c.920C>T	c.(919-921)cCg>cTg	p.P307L	SEC23IP_uc010qtc.2_Missense_Mutation_p.P96L	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	307	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CAGCCAGATCCGGAGAGCGTG	0.488													T	121663608	C	T	121663608	3	4	96	1	0	0	0	0	1	0	0	0	13993	652	23	2	934	2	SEC23IP	10	121663608	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	12739763	121663608	13871139	129	6373											
CPXM2	119587	broad.mit.edu	37	10	125506288	125506288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:125506288G>A	uc001lhk.1	-	13	2588	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C	CPXM2_uc001lhj.3_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	755					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			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)		GGTCACCCACGCTGTCGTCTC	0.577													A	125506288	G	A	125506288	3	1	96	1	0	0	0	0	1	0	0	0	3838	1087	38	1	11	1	CPXM2	10	125506288	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3842680	125506288	10028459	130	6374											
CPXM2	119587	broad.mit.edu	37	10	125622179	125622179	+	Missense_Mutation	SNP	G	G	A	rs146535848		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:125622179G>A	uc001lhk.1	-	2	789	c.464C>T	c.(463-465)aCg>aTg	p.T155M	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	155	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			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)		GCGCTTCACCGTGGAGGCATG	0.507													A	125622179	G	A	125622179	3	1	96	1	0	0	0	0	1	0	0	0	3838	1145	40	1	1854	1	CPXM2	10	125622179	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	115891	125622179	9912568	131	6375											
MRGPRE	116534	broad.mit.edu	37	11	3249728	3249728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:3249728G>A	uc021qcj.1	-	0	299	c.299C>T	c.(298-300)aCg>aTg	p.T100M	MRGPRE_uc001lxq.4_Missense_Mutation_p.T100M	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	100						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T100M(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGCGCAGCGTTGCCAGGCT	0.662													A	3249728	G	A	3249728	3	1	96	1	0	0	0	0	1	0	0	0	9764	1145	40	1	640	1	MRGPRE	11	3249728	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		3249728	131756788	132	6376											
SOX6	55553	broad.mit.edu	37	11	16036504	16036504	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:16036504C>T	uc001mme.3	-	12	1788	c.1755G>A	c.(1753-1755)cgG>cgA	p.R585R	SOX6_uc001mmd.3_Silent_p.R548R|SOX6_uc001mmf.3_Silent_p.R545R|SOX6_uc001mmg.3_Silent_p.R572R	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	572					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CATCTTCTGGCCGAGTAAGGT	0.463													T	16036504	C	T	16036504	2	4	96	1	0	0	0	0	0	0	0	1	14955	726	26	3		3	SOX6	11	16036504	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	12786776	16036504	118970012	133	6377											
PLEKHA7	144100	broad.mit.edu	37	11	16847767	16847767	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:16847767C>T	uc010rcu.1	-	9	1258	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	PLEKHA7_uc001mmo.3_Missense_Mutation_p.A415T|PLEKHA7_uc001mmn.3_Missense_Mutation_p.A123T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	415					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGAGGAAAGGCCCGCTGGTAC	0.592													T	16847767	C	T	16847767	3	4	96	1	0	0	0	0	1	0	0	0	12061	739	26	3	2178	3	PLEKHA7	11	16847767	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	811263	16847767	118158749	134	6378											
NELL1	4745	broad.mit.edu	37	11	20959373	20959373	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:20959373C>T	uc009yid.3	+	10	1276	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	NELL1_uc010rdp.2_Missense_Mutation_p.R107W|NELL1_uc001mqe.3_Missense_Mutation_p.R347W|NELL1_uc001mqf.3_Missense_Mutation_p.R347W|NELL1_uc010rdo.2_Missense_Mutation_p.R290W	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	347	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						AGAAGGCCAGCGGATTTTAAC	0.408													T	20959373	C	T	20959373	3	4	96	1	0	0	0	0	1	0	0	0	10333	759	27	1	1077	1	NELL1	11	20959373	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	4111606	20959373	114047143	135	6379											
GYLTL1B	120071	broad.mit.edu	37	11	45950278	45950278	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:45950278G>A	uc001nbv.1	+	13	2159	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R652H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R683H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	683					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCCACCTATCGTGACTGCCTC	0.637													A	45950278	G	A	45950278	3	1	96	1	0	0	0	0	1	0	0	0	6907	1145	40	1	2098	1	GYLTL1B	11	45950278	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	24990905	45950278	89056238	136	6380											
CHRM4	1132	broad.mit.edu	37	11	46406690	46406690	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:46406690C>T	uc001nct.1	-	0	1418	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	473					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.R473R(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCCGATGTTCCGATACTGGCA	0.602													T	46406690	C	T	46406690	3	4	96	1	0	0	0	0	1	0	0	0	3379	652	23	2	25	2	CHRM4	11	46406690	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	456412	46406690	88599826	137	6381											
P2RX3	5024	broad.mit.edu	37	11	57137380	57137380	+	Silent	SNP	C	C	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:57137380C>A	uc001nju.3	+	11	1288	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	368					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.I368M(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CGCTGAAAATCGCGGCTTTGA	0.547													A	57137380	C	A	57137380	2	1	96	1	0	0	0	0	0	0	0	1	11341	874	31	5		5	P2RX3	11	57137380	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	10730690	57137380	77869136	138	6382											
RASGRP2	10235	broad.mit.edu	37	11	64496457	64496457	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:64496457C>T	uc009ypu.3	-	14	1876	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	RASGRP2_uc001oat.3_Missense_Mutation_p.R452H|RASGRP2_uc001oau.3_Missense_Mutation_p.R405H|RASGRP2_uc009ypv.3_Missense_Mutation_p.R550H|RASGRP2_uc009ypw.3_Missense_Mutation_p.R550H	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	550					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCCCTGCGCCGACACTC	0.637													T	64496457	C	T	64496457	3	4	96	1	0	0	0	0	1	0	0	0	13075	768	27	1	188	1	RASGRP2	11	64496457	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7359077	64496457	70510059	139	6383											
INPPL1	3636	broad.mit.edu	37	11	71942122	71942123	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:71942122_71942123insC	uc001osf.3	+	11	1533_1534	c.1386_1387insC	c.(1384-1389)atacccfs	p.I462fs	INPPL1_uc001osg.3_Frame_Shift_Ins_p.I220fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	462					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGACCATACCCCATGACAT	0.579													C	71942123	-	C	71942122	7	5	96	1	0	1	1	0	0	0	0	0	7761	381	14	0	1432	0	INPPL1	11	71942122	Frame_Shift_Ins	INS	-	TCGA-06-5858-01A-01D-1696-08	7445665	71942122	63064394	140	6384											
INPPL1	3636	broad.mit.edu	37	11	71943788	71943788	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:71943788C>T	uc001osf.3	+	14	1978	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	INPPL1_uc001osg.3_Missense_Mutation_p.R369C	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	611					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTCAACTACCGCCTGGACAT	0.612													T	71943788	C	T	71943788	3	4	96	1	0	0	0	0	1	0	0	0	7761	652	23	2	1889	2	INPPL1	11	71943788	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1666	71943788	63062728	141	6385											
ATG16L2	89849	broad.mit.edu	37	11	72528883	72528883	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:72528883C>T	uc001otd.3	+	2	341	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	ATG16L2_uc001otc.1_Missense_Mutation_p.R101W|ATG16L2_uc010rrf.1_Missense_Mutation_p.R101W|ATG16L2_uc001ote.3_5'UTR|ATG16L2_uc009ytj.2_Missense_Mutation_p.R101W	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	101					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGAGGGGCTCCGGCTGGTCTG	0.577													T	72528883	C	T	72528883	3	4	96	1	0	0	0	0	1	0	0	0	1092	643	23	2	311	2	ATG16L2	11	72528883	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	585095	72528883	62477633	142	6386											
RNF26	79102	broad.mit.edu	37	11	119206097	119206097	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:119206097A>G	uc001pwh.3	+	0	888	c.265A>G	c.(265-267)Agc>Ggc	p.S89G		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	Homo sapiens ring finger protein 26 (RNF26), mRNA.	89	Leu-rich.						zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TCTGCTGTATAGCTGCTGCTC	0.607													G	119206097	A	G	119206097	3	3	96	1	0	0	0	0	1	0	0	0	13486	420	15	4	267	4	RNF26	11	119206097	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	46677214	119206097	15800419	143	6387											
TMEM136	219902	broad.mit.edu	37	11	120201174	120201174	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:120201174C>T	uc001pxj.3	+	2	1248	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	TMEM136_uc001pxg.3_Missense_Mutation_p.R133W|TMEM136_uc010rzm.2_Missense_Mutation_p.R111W|TMEM136_uc021qrl.1_Missense_Mutation_p.R129W|TMEM136_uc001pxh.2_Missense_Mutation_p.R230W|TMEM136_uc009zas.2_Missense_Mutation_p.R129W|TMEM136_uc001pxi.2_Missense_Mutation_p.R129W	NM_001198670	NP_001185599	Q6ZRR5	TM136_HUMAN	Homo sapiens transmembrane protein 136 (TMEM136), transcript variant 1, mRNA.	230						integral to membrane				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GAGAAGCAGGCGGAGTGAGGA	0.493													T	120201174	C	T	120201174	3	4	96	1	0	0	0	0	1	0	0	0	16049	759	27	1	407	1	TMEM136	11	120201174	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	995077	120201174	14805342	144	6388											
FOXRED1	55572	broad.mit.edu	37	11	126143242	126143242	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:126143242C>T	uc001qdi.3	+	3	596	c.429C>T	c.(427-429)gcC>gcT	p.A143A	FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_Missense_Mutation_p.R12C|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Silent_p.A129A|FOXRED1_uc001qdk.3_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	143						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGTACCTGGCCGTAGTCGATG	0.557													T	126143242	C	T	126143242	2	4	96	1	0	0	0	0	0	0	0	1	6033	639	23	2		2	FOXRED1	11	126143242	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	5942068	126143242	8863274	145	6389											
ADAMTS15	170689	broad.mit.edu	37	11	130343095	130343095	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:130343095G>A	uc010scd.2	+	7	2232	c.2232G>A	c.(2230-2232)tcG>tcA	p.S744S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	744	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		TCGTGGTGTCGGCGGTGGAGC	0.642													A	130343095	G	A	130343095	2	1	96	1	0	0	0	0	0	0	0	1	260	1103	39	2		2	ADAMTS15	11	130343095	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	4199853	130343095	4663421	146	6390											
WBP11	51729	broad.mit.edu	37	12	14946750	14946750	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:14946750G>A	uc001rci.3	-	7	989	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	276	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTGATTTGTCGGTGTCACTGT	0.433													A	14946750	G	A	14946750	2	1	96	1	0	0	0	0	0	0	0	1	17255	1103	39	2		2	WBP11	12	14946750	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08		14946750	118905145	147	6391											
TXNRD1	7296	broad.mit.edu	37	12	104714974	104714974	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:104714974C>T	uc021rcx.1	+	9	1117	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	TXNRD1_uc021rcy.1_Silent_p.D267D|TXNRD1_uc021rcz.1_Silent_p.D215D|TXNRD1_uc021rda.1_Silent_p.D215D|TXNRD1_uc021rdb.1_Silent_p.D215D|TXNRD1_uc010swp.2_Silent_p.D177D|TXNRD1_uc010swq.2_Silent_p.D265D|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Silent_p.D281D	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	365			D -> G (in dbSNP:rs1127954).	D -> N (in Ref. 3; AAC69621).	cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TTGGTTTAGACGTCACTGTTA	0.448													T	104714974	C	T	104714974	2	4	96	1	0	0	0	0	0	0	0	1	16804	535	19	1		1	TXNRD1	12	104714974	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	89768224	104714974	29136921	148	6392											
ULK1	8408	broad.mit.edu	37	12	132397780	132397780	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:132397780G>A	uc001uje.3	+	13	1402	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	378	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCAAACCCCCGCCAGACAGCC	0.622													A	132397780	G	A	132397780	2	1	96	1	0	0	0	0	0	0	0	1	16972	1074	38	1		1	ULK1	12	132397780	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	27682806	132397780	1454115	149	6393											
TPTE2	93492	broad.mit.edu	37	13	20067042	20067042	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:20067042G>A	uc001umd.3	-	4	277	c.66_splice	c.e4-1	p.S22_splice	TPTE2_uc009zzk.3_Splice_Site|TPTE2_uc009zzl.3_Splice_Site_p.S22_splice|TPTE2_uc001ume.3_Splice_Site_p.S22_splice|TPTE2_uc009zzm.3_Splice_Site|TPTE2_uc010tcm.2_Splice_Site	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	22						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P23S(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTTGTGTGTGGGCTAGAGGAT	0.353													A	20067042	G	A	20067042	3	1	96	1	0	0	0	0	1	0	0	0	16428	1246	43	3	1573	3	TPTE2	13	20067042	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		20067042	95102836	150	6394											
PARP4	143	broad.mit.edu	37	13	25023906	25023906	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:25023906C>T	uc001upl.3	-	24	3170	c.3064G>A	c.(3064-3066)Gga>Aga	p.G1022R		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1022	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.G1022*(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCAAATACTCCGGCACCACAC	0.308													T	25023906	C	T	25023906	3	4	96	1	0	0	0	0	1	0	0	0	11463	661	23	2	2150	2	PARP4	13	25023906	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	4956864	25023906	90145972	151	6395											
STARD13	90627	broad.mit.edu	37	13	33704214	33704214	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:33704214G>A	uc001uuw.3	-	4	726	c.600C>T	c.(598-600)agC>agT	p.S200S	STARD13_uc001uuu.3_Silent_p.S192S|STARD13_uc001uuv.3_Silent_p.S82S|STARD13_uc001uux.3_Silent_p.S165S|STARD13_uc010abh.1_Silent_p.S185S|STARD13_uc021rhz.1_Silent_p.S192S|STARD13_uc021ria.1_Silent_p.S82S	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	200					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACTGCTTTCGCTGTGAATGG	0.627													A	33704214	G	A	33704214	2	1	96	1	0	0	0	0	0	0	0	1	15255	1078	38	1		1	STARD13	13	33704214	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	8680308	33704214	81465664	152	6396											
RB1	5925	broad.mit.edu	37	13	48947629	48947629	+	Splice_Site	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:48947629G>A	uc001vcb.3	+	12	1381	c.1215_splice	c.e12+1	p.N405_splice	RB1_uc010act.1_Splice_Site_p.N106_splice	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	405	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	48947629	G	A	48947629	5	1	96	1	0	0	0	0	0	0	1	0	13098	1159	40	1	1262	1	RB1	13	48947629	Splice_Site	SNP	G	TCGA-06-5858-01A-01D-1696-08	15243415	48947629	66222249	153	6397											
TGDS	23483	broad.mit.edu	37	13	95233375	95233375	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:95233375A>C	uc001vlw.3	-	5	646	c.525T>G	c.(523-525)tgT>tgG	p.C175W		NM_014305	NP_055120	O95455	TGDS_HUMAN	Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA.	175					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTGTACAAAACATTCAGCAG	0.318													C	95233375	A	C	95233375	3	2	96	1	0	0	0	0	1	0	0	0	15811	41	2	5	555	5	TGDS	13	95233375	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	46285746	95233375	19936503	154	6398											
ABCC4	10257	broad.mit.edu	37	13	95673860	95673860	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:95673860G>A	uc001vmd.4	-	30	4066	c.3947C>T	c.(3946-3948)tCg>tTg	p.S1316L	ABCC4_uc010afj.3_Missense_Mutation_p.S107L|ABCC4_uc010afk.3_Missense_Mutation_p.S1269L	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1316					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AGTTAAGGTCGAGGGCTGTCC	0.383													A	95673860	G	A	95673860	3	1	96	1	0	0	0	0	1	0	0	0	55	1059	37	2	34	2	ABCC4	13	95673860	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	440485	95673860	19496018	155	6399											
COL4A2	1284	broad.mit.edu	37	13	111088642	111088642	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111088642C>T	uc001vqx.3	+	12	1042	c.753C>T	c.(751-753)aaC>aaT	p.N251N		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	251	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGGACCCAACGGGATTCCAT	0.463													T	111088642	C	T	111088642	2	4	96	1	0	0	0	0	0	0	0	1	3690	535	19	1		1	COL4A2	13	111088642	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	15414782	111088642	4081236	156	6400											
ING1	3621	broad.mit.edu	37	13	111371669	111371669	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111371669C>T	uc001vri.3	+	1	1091	c.659C>T	c.(658-660)gCg>gTg	p.A220V	ING1_uc001vrf.3_Missense_Mutation_p.A33V|ING1_uc001vrg.3_Missense_Mutation_p.A8V|ING1_uc001vrh.3_Missense_Mutation_p.A77V|ING1_uc021rmo.1_Missense_Mutation_p.A8V	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	220					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGCAGCGCGCGCTGATCCGC	0.652													T	111371669	C	T	111371669	3	4	96	1	0	0	0	0	1	0	0	0	7735	768	27	1	813	1	ING1	13	111371669	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	283027	111371669	3798209	157	6401											
ARHGEF7	8874	broad.mit.edu	37	13	111870210	111870210	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111870210G>A	uc001vrs.2	+	5	966	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ARHGEF7_uc001vrr.2_Missense_Mutation_p.R218H|ARHGEF7_uc001vrt.2_Missense_Mutation_p.R189H|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.R61H|ARHGEF7_uc001vrw.4_Missense_Mutation_p.R61H|ARHGEF7_uc001vrx.4_Missense_Mutation_p.R61H|ARHGEF7_uc010tjo.2_Missense_Mutation_p.R136H	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	239	SH3.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AACTACGTGCGCGAGGTCAAG	0.567													A	111870210	G	A	111870210	3	1	96	1	0	0	0	0	1	0	0	0	911	1087	38	1	738	1	ARHGEF7	13	111870210	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	498541	111870210	3299668	158	6402											
BMP4	652	broad.mit.edu	37	14	54418835	54418835	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:54418835C>T	uc001xal.4	-	1	293	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	BMP4_uc010aoh.3_Missense_Mutation_p.A36T|BMP4_uc001xao.4_Missense_Mutation_p.A36T|BMP4_uc001xan.4_Missense_Mutation_p.A36T	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	36					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGAATCTCGGCGACTTTTTTC	0.582													T	54418835	C	T	54418835	3	4	96	1	0	0	0	0	1	0	0	0	1462	768	27	1	1128	1	BMP4	14	54418835	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		54418835	52930705	159	6403											
PLEKHG3	26030	broad.mit.edu	37	14	65208866	65208866	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:65208866G>A	uc001xhp.2	+	15	3033	c.2994G>A	c.(2992-2994)ccG>ccA	p.P998P	PLEKHG3_uc001xhn.1_Silent_p.P821P|PLEKHG3_uc001xho.1_Silent_p.P877P|PLEKHG3_uc010aqh.1_Silent_p.P419P|PLEKHG3_uc001xhq.1_Silent_p.P382P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	877					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCGCAGCCCGGCCCACCTGG	0.667													A	65208866	G	A	65208866	2	1	96	1	0	0	0	0	0	0	0	1	12070	1103	39	2		2	PLEKHG3	14	65208866	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	10790031	65208866	42140674	160	6404											
ADCK1	57143	broad.mit.edu	37	14	78390916	78390916	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:78390916G>A	uc001xui.3	+	7	1074	c.975G>A	c.(973-975)gcG>gcA	p.A325A	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Silent_p.A257A|ADCK1_uc001xuk.1_Silent_p.A199A|ADCK1_uc001xul.3_Silent_p.A32A	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	332	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			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)		CGGGAAAGGCGGAGATTGTCC	0.557													A	78390916	G	A	78390916	2	1	96	1	0	0	0	0	0	0	0	1	288	1103	39	2		2	ADCK1	14	78390916	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	13182050	78390916	28958624	161	6405											
EML5	161436	broad.mit.edu	37	14	89160659	89160659	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:89160659C>T	uc021ryf.1	-	16	2780	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	EML5_uc021ryg.1_Missense_Mutation_p.R844H|EML5_uc001xxh.1_Missense_Mutation_p.R21H	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	844						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACCTGCTTTACGCCAAAATTT	0.323													T	89160659	C	T	89160659	3	4	96	1	0	0	0	0	1	0	0	0	5100	536	19	1	3510	1	EML5	14	89160659	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	10769743	89160659	18188881	162	6406											
RIN3	79890	broad.mit.edu	37	14	93119291	93119291	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:93119291C>T	uc001yap.3	+	5	2049	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	RIN3_uc010auk.3_Missense_Mutation_p.R295C|RIN3_uc001yaq.3_Missense_Mutation_p.R558C|RIN3_uc001yar.1_Missense_Mutation_p.R295C|RIN3_uc001yas.1_Missense_Mutation_p.R295C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	633	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.R633C(2)|p.A632V(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GATGATGGCGCGCCAGACCTC	0.597													T	93119291	C	T	93119291	3	4	96	1	0	0	0	0	1	0	0	0	13373	768	27	1	1919	1	RIN3	14	93119291	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3958632	93119291	14230249	163	6407											
SERPINA5	5104	broad.mit.edu	37	14	95058444	95058444	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:95058444G>A	uc001ydm.2	+	5	1299	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	SERPINA3_uc001ydo.4_5'UTR	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	363					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCAGAGCAGCGGCAGCCACGG	0.567													A	95058444	G	A	95058444	2	1	96	1	0	0	0	0	0	0	0	1	14092	1103	39	2		2	SERPINA5	14	95058444	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1939153	95058444	12291096	164	6408											
C14orf49	161176	broad.mit.edu	37	14	95922000	95922000	+	Missense_Mutation	SNP	G	G	A	rs143391386		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:95922000G>A	uc001yei.4	-	4	866	c.851C>T	c.(850-852)gCg>gTg	p.A284V	C14orf49_uc010avi.3_Missense_Mutation_p.A284V|C14orf49_uc001yej.1_Missense_Mutation_p.A284V	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	284					cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AATGACACCCGCAGACTGCTC	0.567													A	95922000	G	A	95922000	3	1	96	1	0	0	0	0	1	0	0	0	1776	1087	38	1	2128	1	C14orf49	14	95922000	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	863556	95922000	11427540	165	6409											
CDC42BPB	9578	broad.mit.edu	37	14	103412980	103412980	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:103412980C>T	uc001ymi.1	-	27	3805	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	CDC42BPB_uc001ymj.1_Silent_p.S293S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1191	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GAATGAGCAGCGAGCTGGTCT	0.488													T	103412980	C	T	103412980	2	4	96	1	0	0	0	0	0	0	0	1	3073	755	27	1		1	CDC42BPB	14	103412980	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	7490980	103412980	3936560	166	6410											
HERC2	8924	broad.mit.edu	37	15	28421858	28421858	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:28421858C>T	uc001zbj.3	-	61	9595	c.9489G>A	c.(9487-9489)gcG>gcA	p.A3163A		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3163					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAGGGTCTGCGCGTCTCTAC	0.493													T	28421858	C	T	28421858	2	4	96	1	0	0	0	0	0	0	0	1	7058	755	27	1		1	HERC2	15	28421858	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		28421858	74109534	167	6411											
SPTBN5	51332	broad.mit.edu	37	15	42151139	42151139	+	Silent	SNP	A	A	G			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:42151139A>G	uc001zos.3	-	47	8256	c.7923T>C	c.(7921-7923)caT>caC	p.H2641H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2676					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCCAGGCGATGGCGGCGGG	0.706													G	42151139	A	G	42151139	2	3	96	1	0	0	0	0	0	0	0	1	15121	330	12	4		4	SPTBN5	15	42151139	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	13729281	42151139	60380253	168	6412											
SLC27A2	11001	broad.mit.edu	37	15	50528151	50528151	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:50528151G>A	uc001zxw.3	+	9	1953	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	SLC27A2_uc010bes.3_Missense_Mutation_p.R521H|SLC27A2_uc001zxx.3_Missense_Mutation_p.R339H	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	574					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTAAACACCGCAAAATGACC	0.418													A	50528151	G	A	50528151	3	1	96	1	0	0	0	0	1	0	0	0	14526	1087	38	1	1759	1	SLC27A2	15	50528151	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	8377012	50528151	52003241	169	6413											
ARID3B	10620	broad.mit.edu	37	15	74888087	74888087	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:74888087C>T	uc002aye.3	+	8	1859	c.1658C>T	c.(1657-1659)gCa>gTa	p.A553V	ARID3B_uc002ayd.3_Missense_Mutation_p.A552V|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	553	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCCCCAGCGCAGAGCCCTCC	0.617													T	74888087	C	T	74888087	3	4	96	1	0	0	0	0	1	0	0	0	917	710	25	3	1685	3	ARID3B	15	74888087	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	24359936	74888087	27643305	170	6414											
COMMD4	54939	broad.mit.edu	37	15	75631625	75631625	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:75631625C>T	uc002azy.3	+	5	379	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Silent_p.A90A|COMMD4_uc002baa.3_Missense_Mutation_p.R108C|COMMD4_uc010umg.2_3'UTR	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	Homo sapiens COMM domain containing 4 (COMMD4), mRNA.	108						cytoplasm	protein binding	p.R108C(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAGCCTGTGCCGCTGTTATGA	0.612													T	75631625	C	T	75631625	3	4	96	1	0	0	0	0	1	0	0	0	3718	652	23	2	344	2	COMMD4	15	75631625	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	743538	75631625	26899767	171	6415											
SIN3A	25942	broad.mit.edu	37	15	75722661	75722661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:75722661C>T	uc002bai.3	-	1	315	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	SIN3A_uc002baj.3_Missense_Mutation_p.R19Q|SIN3A_uc010uml.2_Missense_Mutation_p.R19Q|SIN3A_uc002bak.4_Missense_Mutation_p.R19Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	19					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			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						GCCAGGGATCCGACGCTGCTG	0.577													T	75722661	C	T	75722661	3	4	96	1	0	0	0	0	1	0	0	0	14325	652	23	2	3845	2	SIN3A	15	75722661	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	91036	75722661	26808731	172	6416											
WDR61	80349	broad.mit.edu	37	15	78578420	78578420	+	Missense_Mutation	SNP	C	C	T	rs148690647	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:78578420C>T	uc002bdn.3	-	8	788	c.712G>A	c.(712-714)Gtt>Att	p.V238I	WDR61_uc002bdo.3_Missense_Mutation_p.V238I	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	Homo sapiens WD repeat domain 61 (WDR61), mRNA.	238							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CAGAATGCAACGTTCAGCACC	0.433													T	78578420	C	T	78578420	3	4	96	1	0	0	0	0	1	0	0	0	17309	536	19	1	217	1	WDR61	15	78578420	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	2855759	78578420	23952972	173	6417											
MESDC1	59274	broad.mit.edu	37	15	81295114	81295114	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:81295114C>T	uc002bfz.3	+	0	1820	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	Homo sapiens mesoderm development candidate 1 (MESDC1), mRNA.	168										endometrium(1)|lung(2)	3						CGCCGTGCTGCGCGCCACGCC	0.746													T	81295114	C	T	81295114	3	4	96	1	0	0	0	0	1	0	0	0	9480	768	27	1	504	1	MESDC1	15	81295114	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	2716694	81295114	21236278	174	6418											
WDR73	84942	broad.mit.edu	37	15	85189474	85189474	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:85189474G>A	uc002bkw.2	-	5	474	c.458C>T	c.(457-459)gCg>gTg	p.A153V	WDR73_uc002bkv.2_Non-coding_Transcript|WDR73_uc002bkx.2_Non-coding_Transcript|WDR73_uc010upa.1_Missense_Mutation_p.A153V|AL357213_uc002bky.1_3'UTR	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	Homo sapiens WD repeat domain 73 (WDR73), mRNA.	153										cervix(1)|large_intestine(1)|lung(1)	3						TCGGAGCCTCGCCCCATGGAG	0.582													A	85189474	G	A	85189474	3	1	96	1	0	0	0	0	1	0	0	0	17320	1087	38	1	690	1	WDR73	15	85189474	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3894360	85189474	17341918	175	6419											
LRRK1	79705	broad.mit.edu	37	15	101567914	101567914	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:101567914C>T	uc002bwr.3	+	18	2917	c.2598C>T	c.(2596-2598)gaC>gaT	p.D866D	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	866					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGACGACGACGTGCAGTACC	0.667													T	101567914	C	T	101567914	2	4	96	1	0	0	0	0	0	0	0	1	9032	535	19	1		1	LRRK1	15	101567914	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	16378440	101567914	963478	176	6420											
HS3ST2	9956	broad.mit.edu	37	16	22926622	22926622	+	Silent	SNP	G	G	A	rs148264643		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:22926622G>A	uc002dli.3	+	1	915	c.843G>A	c.(841-843)ccG>ccA	p.P281P		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	281						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCACTGACCCGGCCGGCGAGA	0.552													A	22926622	G	A	22926622	2	1	96	1	0	0	0	0	0	0	0	1	7364	1103	39	2		2	HS3ST2	16	22926622	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08		22926622	67428131	177	6421											
C16orf54	283897	broad.mit.edu	37	16	29756241	29756241	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:29756241C>T	uc002dtp.2	-	1	141	c.32G>A	c.(31-33)cGc>cAc	p.R11H	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	11						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCCCTCCACGCGCCCAGAGGG	0.652													T	29756241	C	T	29756241	3	4	96	1	0	0	0	0	1	0	0	0	1819	768	27	1	646	1	C16orf54	16	29756241	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	6829619	29756241	60598512	178	6422											
ZNF689	115509	broad.mit.edu	37	16	30616193	30616193	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:30616193G>A	uc002dyx.3	-	2	1215	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	ZNF689_uc010bzy.3_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Homo sapiens zinc finger protein 689 (ZNF689), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GTGCGCTGGCGGAAGCGGCGG	0.672													A	30616193	G	A	30616193	3	1	96	1	0	0	0	0	1	0	0	0	18091	1116	39	2	611	2	ZNF689	16	30616193	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	859952	30616193	59738560	179	6423											
FBXL19	54620	broad.mit.edu	37	16	30958480	30958480	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:30958480C>T	uc002eab.2	+	10	2172	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	FBXL19_uc002dzz.1_Missense_Mutation_p.R360W|FBXL19_uc002eaa.1_Missense_Mutation_p.R571W|ORAI3_uc002eac.3_5'Flank	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	672							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGCTTGTGCCCGGCTGGCAGC	0.711													T	30958480	C	T	30958480	3	4	96	1	0	0	0	0	1	0	0	0	5715	643	23	2	2056	2	FBXL19	16	30958480	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	342287	30958480	59396273	180	6424											
CCDC102A	92922	broad.mit.edu	37	16	57546730	57546730	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:57546730G>A	uc002elw.3	-	8	1789	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	526										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GTGCCAAAGCGAGCACTGCGG	0.637													A	57546730	G	A	57546730	3	1	96	1	0	0	0	0	1	0	0	0	2736	1058	37	2	80	2	CCDC102A	16	57546730	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	26588250	57546730	32808023	181	6425											
FAM65A	79567	broad.mit.edu	37	16	67578997	67578997	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:67578997G>A	uc010vjp.2	+	16	3254	c.3068G>A	c.(3067-3069)cGc>cAc	p.R1023H	FAM65A_uc002eth.3_Missense_Mutation_p.R1003H|FAM65A_uc010cej.3_Missense_Mutation_p.R1007H|FAM65A_uc010vjq.2_Missense_Mutation_p.R1017H|FAM65A_uc002etk.3_Missense_Mutation_p.R1001H	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	1007						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCTCCCTGCGCCAGCCAGGC	0.627													A	67578997	G	A	67578997	3	1	96	1	0	0	0	0	1	0	0	0	5599	1087	38	1	3070	1	FAM65A	16	67578997	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	10032267	67578997	22775756	182	6426											
PKD1L2	114780	broad.mit.edu	37	16	81236192	81236192	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:81236192G>A	uc002fgh.1	-	5	1056	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PKD1L2_uc002fgj.3_Silent_p.S352S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	352					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			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						GGGACAGGCCGGAGCATGCAG	0.582													A	81236192	G	A	81236192	2	1	96	1	0	0	0	0	0	0	0	1	11965	1103	39	2		2	PKD1L2	16	81236192	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	13657195	81236192	9118561	183	6427											
SLC7A5	8140	broad.mit.edu	37	16	87873310	87873310	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:87873310C>T	uc002fkm.3	-	4	1009	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	313					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CGGCTCACCACGGCCACGGCC	0.662													T	87873310	C	T	87873310	3	4	96	1	0	0	0	0	1	0	0	0	14700	536	19	1	610	1	SLC7A5	16	87873310	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	6637118	87873310	2481443	184	6428											
RPA1	6117	broad.mit.edu	37	17	1780602	1780602	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:1780602C>T	uc002fto.2	+	7	799	c.684C>T	c.(682-684)gaC>gaT	p.D228D		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	228					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AACTGGTTGACGAAAGTGTGA	0.562								Nucleotide excision repair (NER)					T	1780602	C	T	1780602	2	4	96	1	0	0	0	0	0	0	0	1	13536	535	19	1		1	RPA1	17	1780602	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		1780602	79414608	185	6429											
PLD2	5338	broad.mit.edu	37	17	4713214	4713214	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:4713214C>T	uc002fzc.3	+	8	876	c.750C>T	c.(748-750)ctC>ctT	p.L250L	PLD2_uc010vsj.2_Silent_p.L107L|PLD2_uc002fzd.3_Silent_p.L250L	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	250	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACATGTGCCTCGAGACAGGTG	0.562													T	4713214	C	T	4713214	2	4	96	1	0	0	0	0	0	0	0	1	12046	871	31	2		2	PLD2	17	4713214	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2932612	4713214	76481996	186	6430											
WSCD1	23302	broad.mit.edu	37	17	6023636	6023636	+	Silent	SNP	G	G	A	rs146617432		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:6023636G>A	uc010cli.3	+	8	1762	c.1383G>A	c.(1381-1383)ccG>ccA	p.P461P	WSCD1_uc002gcn.3_Silent_p.P461P|WSCD1_uc002gco.3_Silent_p.P461P|WSCD1_uc010clj.3_Silent_p.P152P	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	461						integral to membrane	sulfotransferase activity	p.P461P(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TAGAGTGGCCGGACTTTGTCA	0.672													A	6023636	G	A	6023636	2	1	96	1	0	0	0	0	0	0	0	1	17403	1103	39	2		2	WSCD1	17	6023636	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1310422	6023636	75171574	187	6431											
DLG4	1742	broad.mit.edu	37	17	7097030	7097030	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7097030C>T	uc010vtn.2	-	13	1627	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.R513Q|DLG4_uc002get.4_Missense_Mutation_p.R559Q|DLG4_uc010vto.2_Missense_Mutation_p.R556Q	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	516	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	p.R559Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CGAGTCTTCTCGACCTGGTGG	0.612													T	7097030	C	T	7097030	3	4	96	1	0	0	0	0	1	0	0	0	4557	884	31	2	651	2	DLG4	17	7097030	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1073394	7097030	74098180	188	6432											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	96	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	481376	7578406	73616804	189	6433											
KDM6B	23135	broad.mit.edu	37	17	7752152	7752152	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7752152C>T	uc002gix.3	+	0	1289	c.452C>T	c.(451-453)cCg>cTg	p.P151L	KDM6B_uc002giw.1_Missense_Mutation_p.P849L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	849					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCGCCCTGCCGCCCACCTCA	0.687													T	7752152	C	T	7752152	3	4	96	1	0	0	0	0	1	0	0	0	8138	652	23	2	2576	2	KDM6B	17	7752152	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	173746	7752152	73443058	190	6434											
NOS2	4843	broad.mit.edu	37	17	26116655	26116655	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:26116655G>A	uc002gzu.3	-	2	434	c.170C>T	c.(169-171)cCg>cTg	p.P57L	NOS2_uc010crh.1_Missense_Mutation_p.P57L|NOS2_uc010wab.1_Missense_Mutation_p.P57L	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	57					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GAGGGGCTGCGGGGACTCATT	0.552													A	26116655	G	A	26116655	3	1	96	1	0	0	0	0	1	0	0	0	10543	1116	39	2	3391	2	NOS2	17	26116655	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	18364503	26116655	55078555	191	6435											
SRCIN1	80725	broad.mit.edu	37	17	36704805	36704805	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:36704805G>A	uc002hqd.3	-	16	3483	c.3258C>T	c.(3256-3258)atC>atT	p.I1086I	SRCIN1_uc002hqf.1_Silent_p.I958I|SRCIN1_uc002hqe.2_Silent_p.I940I	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	958					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTAGCTCTGCGATGATGCGAT	0.667													A	36704805	G	A	36704805	2	1	96	1	0	0	0	0	0	0	0	1	15135	1048	37	2		2	SRCIN1	17	36704805	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	10588150	36704805	44490405	192	6436											
BRCA1	672	broad.mit.edu	37	17	41243940	41243940	+	Missense_Mutation	SNP	C	C	T	rs55930959		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:41243940C>T	uc002icq.3	-	9	3840	c.3608G>A	c.(3607-3609)cGa>cAa	p.R1203Q	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.R1132Q|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.R1156Q|BRCA1_uc002ict.3_Missense_Mutation_p.R1203Q|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.R1203Q|BRCA1_uc002ide.1_Missense_Mutation_p.R1034Q|BRCA1_uc010cyy.1_Missense_Mutation_p.R1203Q|BRCA1_uc010whs.1_Missense_Mutation_p.R1203Q|BRCA1_uc010cyz.2_Missense_Mutation_p.R1156Q|BRCA1_uc010cza.2_Missense_Mutation_p.R1177Q|BRCA1_uc010wht.1_Missense_Mutation_p.R907Q	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1203					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCCCCTCTTCGGTAACCCTG	0.433			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			T	41243940	C	T	41243940	3	4	96	1	0	0	0	0	1	0	0	0	1498	884	31	2	2109	2	BRCA1	17	41243940	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	4539135	41243940	39951270	193	6437											
MYCBPAP	84073	broad.mit.edu	37	17	48597088	48597088	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:48597088C>T	uc010wmr.2	+	6	1147	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	292					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AAAAACTCAGCGTGGCCTCAT	0.562													T	48597088	C	T	48597088	3	4	96	1	0	0	0	0	1	0	0	0	10019	768	27	1	1011	1	MYCBPAP	17	48597088	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7353148	48597088	32598122	194	6438											
AP1S2	653653	broad.mit.edu	37	17	58179869	58179869	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:58179869C>T	uc010wot.1	-	0	412	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_003916	NP_003907	P56377	AP1S2_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA.	52					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					CTTCAGATCTCGCCACTCAAG	0.388													T	58179869	C	T	58179869	3	4	96	1	0	0	0	0	1	0	0	0	737	899	31	2		2	AP1S2	17	58179869	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	9582781	58179869	23015341	195	6439											
AMZ2	51321	broad.mit.edu	37	17	66246475	66246475	+	Silent	SNP	A	A	G	rs138991707		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:66246475A>G	uc002jgt.1	+	2	292	c.147A>G	c.(145-147)ggA>ggG	p.G49G	AMZ2_uc002jgs.1_Silent_p.G49G|AMZ2_uc002jgr.1_Silent_p.G49G|AMZ2_uc002jgu.1_Silent_p.G49G|AMZ2_uc002jgv.1_Silent_p.G49G|AMZ2_uc002jgw.1_Silent_p.G49G|AMZ2_uc002jgx.1_Silent_p.G49G|AMZ2_uc002jgy.1_Silent_p.G49G	NM_001033570	NP_057711	Q86W34	AMZ2_HUMAN	Homo sapiens archaelysin family metallopeptidase 2 (AMZ2), transcript variant 3, mRNA.	49							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCTCTTTGGACCCATTACCT	0.458													G	66246475	A	G	66246475	2	3	96	1	0	0	0	0	0	0	0	1	597	262	10	4		4	AMZ2	17	66246475	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	8066606	66246475	14948735	196	6440											
QRICH2	84074	broad.mit.edu	37	17	74287140	74287140	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:74287140C>T	uc002jrd.1	-	3	3350	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1057							protein binding			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						GTCGGTTTGGCCGGCCTGCTC	0.532													T	74287140	C	T	74287140	3	4	96	1	0	0	0	0	1	0	0	0	12880	739	26	3	1885	3	QRICH2	17	74287140	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	8040665	74287140	6908070	197	6441											
UBE2O	63893	broad.mit.edu	37	17	74395033	74395033	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:74395033G>A	uc002jrm.4	-	9	1733	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	UBE2O_uc002jrn.4_Silent_p.D556D|UBE2O_uc002jrl.4_Silent_p.D159D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	556							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCCACATCACGTCGGCTGAGG	0.627													A	74395033	G	A	74395033	2	1	96	1	0	0	0	0	0	0	0	1	16865	1136	40	1		1	UBE2O	17	74395033	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	107893	74395033	6800177	198	6442											
AATK	9625	broad.mit.edu	37	17	79094804	79094804	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79094804G>A	uc010dia.3	-	10	3012	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W	AATK_uc010dhz.3_Intron|AATK_uc021ueu.1_Missense_Mutation_p.R875W	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	978						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTGGAGAGCCGTGTCTCGGGC	0.652													A	79094804	G	A	79094804	3	1	96	1	0	0	0	0	1	0	0	0	26	1144	40	1	1208	1	AATK	17	79094804	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4699771	79094804	2100406	199	6443											
NPLOC4	55666	broad.mit.edu	37	17	79556036	79556036	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79556036G>A	uc002kau.3	-	11	1397	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	NPLOC4_uc002kat.4_Silent_p.D405D|NPLOC4_uc010wur.1_Silent_p.D244D	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	405					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTCCGGGGCGTCCTTGCATG	0.493													A	79556036	G	A	79556036	2	1	96	1	0	0	0	0	0	0	0	1	10586	1136	40	1		1	NPLOC4	17	79556036	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	461232	79556036	1639174	200	6444											
ARHGDIA	396	broad.mit.edu	37	17	79826780	79826780	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79826780A>C	uc021uff.1	-	5	893	c.587T>G	c.(586-588)cTc>cGc	p.L196R	AK293147_uc021ufe.1_5'UTR|ARHGDIA_uc002kbq.3_Missense_Mutation_p.L196R|ARHGDIA_uc021ufg.1_Missense_Mutation_p.L152R|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	196					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTGATGGTGAGATTCCACTC	0.642													C	79826780	A	C	79826780	3	2	96	1	0	0	0	0	1	0	0	0	890	304	11	5	31	5	ARHGDIA	17	79826780	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	270744	79826780	1368430	201	6445											
MC2R	4158	broad.mit.edu	37	18	13885086	13885086	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:13885086C>T	uc002ksp.1	-	1	609	c.432G>A	c.(430-432)atG>atA	p.M144I	MC2R_uc021uhs.1_Missense_Mutation_p.M144I	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	144					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CAGTGCGGCGCATGGTCACGA	0.577													T	13885086	C	T	13885086	3	4	96	1	0	0	0	0	1	0	0	0	9364	710	25	3	465	3	MC2R	18	13885086	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		13885086	64192162	202	6446											
NPC1	4864	broad.mit.edu	37	18	21119357	21119357	+	Missense_Mutation	SNP	C	C	T	rs120074132		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21119357C>T	uc002kum.4	-	18	3147	c.2873G>A	c.(2872-2874)cGa>cAa	p.R958Q	NPC1_uc010xaz.2_Missense_Mutation_p.R691Q	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	958			R -> L (in NPC1).|R -> Q (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTGTCCACTCGACAGCAAGA	0.448													T	21119357	C	T	21119357	3	4	96	1	0	0	0	0	1	0	0	0	10570	884	31	2	991	2	NPC1	18	21119357	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7234271	21119357	56957891	203	6447											
NPC1	4864	broad.mit.edu	37	18	21119839	21119839	+	Missense_Mutation	SNP	C	C	T	rs34302553	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21119839C>T	uc002kum.4	-	17	3005	c.2731G>A	c.(2731-2733)Ggc>Agc	p.G911S	NPC1_uc010xaz.2_Missense_Mutation_p.G644S|NPC1_uc010xba.1_Missense_Mutation_p.G756S	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	911					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGCCCATGCCGCCGCACACC	0.547													T	21119839	C	T	21119839	3	4	96	1	0	0	0	0	1	0	0	0	10570	652	23	2	1137	2	NPC1	18	21119839	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	482	21119839	56957409	204	6448											
NPC1	4864	broad.mit.edu	37	18	21136387	21136387	+	Silent	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21136387T>C	uc002kum.4	-	7	1420	c.1146A>G	c.(1144-1146)tcA>tcG	p.S382S	NPC1_uc010xaz.2_Silent_p.S183S|NPC1_uc010xba.1_Silent_p.S227S	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	382					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCTGGGGGCTGACCAGAGGT	0.567													C	21136387	T	C	21136387	2	2	96	1	0	0	0	0	0	0	0	1	10570	1567	55	4		4	NPC1	18	21136387	Silent	SNP	T	TCGA-06-5858-01A-01D-1696-08	16548	21136387	56940861	205	6449											
DSG1	1828	broad.mit.edu	37	18	28908192	28908192	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:28908192G>A	uc002kwp.3	+	3	469	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	86	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.R86H(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTTACATACCGCATCTCTGGA	0.373													A	28908192	G	A	28908192	3	1	96	1	0	0	0	0	1	0	0	0	4776	1087	38	1	271	1	DSG1	18	28908192	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	7771805	28908192	49169056	206	6450											
RNF165	494470	broad.mit.edu	37	18	44036518	44036518	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:44036518C>T	uc002lcb.1	+	7	1011	c.960C>T	c.(958-960)tgC>tgT	p.C320C	RNF165_uc002lby.1_Silent_p.C253C|RNF165_uc010dnn.1_Silent_p.C116C	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	320							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		ACCAACTGTGCGTGGACCAGT	0.587													T	44036518	C	T	44036518	2	4	96	1	0	0	0	0	0	0	0	1	13456	776	27	1		1	RNF165	18	44036518	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	15128326	44036518	34040730	207	6451											
TCEB3C	162699	broad.mit.edu	37	18	44554670	44554670	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:44554670G>A	uc010xdb.2	-	0	1780	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.A515A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTccgcgggcgccgcgtgccg	0.672													A	44554670	G	A	44554670	3	1	96	1	0	0	0	0	1	0	0	0	15680	1087	38	1	1743	1	TCEB3C	18	44554670	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	518152	44554670	33522578	208	6452											
MAPK4	5596	broad.mit.edu	37	18	48252336	48252336	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:48252336C>T	uc002lev.3	+	4	1858	c.858C>T	c.(856-858)atC>atT	p.I286I	MAPK4_uc010xdm.2_Silent_p.I75I|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	286	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTGCAGCCATCGACTTTCTGG	0.542													T	48252336	C	T	48252336	2	4	96	1	0	0	0	0	0	0	0	1	9280	874	31	2		2	MAPK4	18	48252336	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	3697666	48252336	29824912	209	6453											
KCNG2	26251	broad.mit.edu	37	18	77624216	77624216	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:77624216C>T	uc010xfl.2	+	0	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	183					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCGTGTCCGTGTCCTTCG	0.766													T	77624216	C	T	77624216	2	4	96	1	0	0	0	0	0	0	0	1	8028	639	23	2		2	KCNG2	18	77624216	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	29371880	77624216	453032	210	6454											
LPPR3	79948	broad.mit.edu	37	19	813085	813085	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:813085C>T	uc002lpw.1	-	6	1790	c.1726G>A	c.(1726-1728)Gcg>Acg	p.A576T	LPPR3_uc021ulz.1_Missense_Mutation_p.A184T|LPPR3_uc002lpx.1_Missense_Mutation_p.A548T|LPPR3_uc002lpy.1_Missense_Mutation_p.A329T|MIR3187_uc021uma.1_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	548						integral to membrane	phosphatidate phosphatase activity										GGGCCCGGCGCGCCCGGAGCC	0.726													T	813085	C	T	813085	3	4	96	1	0	0	0	0	1	0	0	0	8926	768	27	1	518	1	LPPR3	19	813085	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		813085	58315898	211	6455											
MLLT1	4298	broad.mit.edu	37	19	6222504	6222504	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:6222504C>T	uc002mek.3	-	5	902	c.738G>A	c.(736-738)ccG>ccA	p.P246P		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	246					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CAGCCTTGGGCGGTGGCGCCT	0.672			T	MLL	AL								T	6222504	C	T	6222504	2	4	96	1	0	0	0	0	0	0	0	1	9625	755	27	1		1	MLLT1	19	6222504	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	5409419	6222504	52906479	212	6456											
MUC16	94025	broad.mit.edu	37	19	9008202	9008202	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:9008202G>A	uc002mkp.3	-	40	39554	c.39350C>T	c.(39349-39351)aCc>aTc	p.T13117I	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13119	SEA 7.				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						CCGGTCCAGGGTGTAGGGGCC	0.547													A	9008202	G	A	9008202	3	1	96	1	0	0	0	0	1	0	0	0	9973	1261	44	3	4349	3	MUC16	19	9008202	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2785698	9008202	50120781	213	6457											
DNM2	1785	broad.mit.edu	37	19	10886407	10886407	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:10886407G>A	uc002mpt.2	+	3	604	c.414G>A	c.(412-414)ccG>ccA	p.P138P	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.P138P|DNM2_uc010dxl.2_Silent_p.P138P|DNM2_uc002mpu.2_Silent_p.P138P|DNM2_uc002mpv.2_Silent_p.P138P	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	138					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCGACCTCCCGGGTATCACCA	0.587			"F, N, Splice, Mis, O"		ETP ALL								A	10886407	G	A	10886407	2	1	96	1	0	0	0	0	0	0	0	1	4672	1103	39	2		2	DNM2	19	10886407	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1878205	10886407	48242576	214	6458											
CARM1	10498	broad.mit.edu	37	19	11018751	11018751	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:11018751G>A	uc002mpz.3	+	2	509	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	128					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AAAACCTGCCGGGGCCACACC	0.617													A	11018751	G	A	11018751	3	1	96	1	0	0	0	0	1	0	0	0	2655	1116	39	2	393	2	CARM1	19	11018751	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	132344	11018751	48110232	215	6459											
MAST1	22983	broad.mit.edu	37	19	12975736	12975736	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:12975736G>A	uc002mvm.3	+	12	1608	c.1480G>A	c.(1480-1482)Gtg>Atg	p.V494M		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	494	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTATGGCATCGTGCACCGCGA	0.572													A	12975736	G	A	12975736	3	1	96	1	0	0	0	0	1	0	0	0	9324	1145	40	1	1530	1	MAST1	19	12975736	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1956985	12975736	46153247	216	6460											
TRMT1	55621	broad.mit.edu	37	19	13216154	13216154	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:13216154C>T	uc002mwj.2	-	14	2010	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q	LYL1_uc002mwi.3_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.R191Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R558Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R587Q|TRMT1_uc010xmz.1_3'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	587							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGCTCCTTCCGCTTGTTCTG	0.622											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	13216154	C	T	13216154	3	4	96	1	0	0	0	0	1	0	0	0	16558	652	23	2	227	2	TRMT1	19	13216154	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	240418	13216154	45912829	217	6461											
IL27RA	9466	broad.mit.edu	37	19	14150709	14150709	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:14150709C>T	uc002mxx.3	+	3	944	c.521C>T	c.(520-522)gCg>gTg	p.A174V		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	174	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGTCAGGAGGCGGCCTGGACC	0.592													T	14150709	C	T	14150709	3	4	96	1	0	0	0	0	1	0	0	0	7681	768	27	1	535	1	IL27RA	19	14150709	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	934555	14150709	44978274	218	6462											
SLC27A1	376497	broad.mit.edu	37	19	17612106	17612106	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:17612106C>T	uc002ngu.1	+	10	1711	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	SLC27A1_uc010xpp.1_Missense_Mutation_p.A375V|SLC27A1_uc002ngv.1_Missense_Mutation_p.A156V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	554					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGGGATGGCGGCCGTCGCA	0.647													T	17612106	C	T	17612106	3	4	96	1	0	0	0	0	1	0	0	0	14525	768	27	1	1703	1	SLC27A1	19	17612106	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3461397	17612106	41516877	219	6463											
NCAN	1463	broad.mit.edu	37	19	19356151	19356151	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:19356151G>A	uc002nlz.3	+	12	3621	c.3522G>A	c.(3520-3522)ccG>ccA	p.P1174P	NCAN_uc002nma.3_Intron	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1174	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAACCAGCCGGACAATTTCT	0.572													A	19356151	G	A	19356151	2	1	96	1	0	0	0	0	0	0	0	1	10204	1103	39	2		2	NCAN	19	19356151	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1744045	19356151	39772832	220	6464											
NPHS1	4868	broad.mit.edu	37	19	36340484	36340484	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:36340484G>A	uc002oby.3	-	5	836	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	227	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				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)			GGCCTTGATGGGGGCCTCCAG	0.587													A	36340484	G	A	36340484	3	1	96	1	0	0	0	0	1	0	0	0	10582	1232	43	3	3141	3	NPHS1	19	36340484	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	16984333	36340484	22788499	221	6465											
SIPA1L3	23094	broad.mit.edu	37	19	38590640	38590640	+	Silent	SNP	G	G	A	rs142598144		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:38590640G>A	uc002ohk.3	+	4	2213	c.1704G>A	c.(1702-1704)acG>acA	p.T568T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	568					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			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)			AAGATGCTACGCCCACAGCCA	0.607													A	38590640	G	A	38590640	2	1	96	1	0	0	0	0	0	0	0	1	14331	1074	38	1		1	SIPA1L3	19	38590640	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2250156	38590640	20538343	222	6466											
SPTBN4	57731	broad.mit.edu	37	19	41009787	41009787	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:41009787C>T	uc002ony.3	+	11	1499	c.1413C>T	c.(1411-1413)caC>caT	p.H471H	SPTBN4_uc002onx.3_Silent_p.H471H|SPTBN4_uc002onz.3_Silent_p.H471H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	471					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			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)			TGAAGAAACACGAAGCGATCG	0.622													T	41009787	C	T	41009787	2	4	96	1	0	0	0	0	0	0	0	1	15120	535	19	1		1	SPTBN4	19	41009787	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2419147	41009787	18119196	223	6467											
ARHGEF1	9138	broad.mit.edu	37	19	42398544	42398544	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:42398544G>A	uc002orx.3	+	9	874	c.765G>A	c.(763-765)tcG>tcA	p.S255S	ARHGEF1_uc002orw.1_Silent_p.S255S|ARHGEF1_uc002ory.3_Silent_p.S222S|ARHGEF1_uc002orz.3_Silent_p.S93S|ARHGEF1_uc002osa.3_Silent_p.S270S|ARHGEF1_uc002osb.3_Silent_p.S237S|ARHGEF1_uc002osc.3_5'Flank|ARHGEF1_uc002osd.3_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	255					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCGGCGGTCGGACGAGCCTG	0.622													A	42398544	G	A	42398544	2	1	96	1	0	0	0	0	0	0	0	1	893	1103	39	2		2	ARHGEF1	19	42398544	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1388757	42398544	16730439	224	6468											
DEDD2	162989	broad.mit.edu	37	19	42703643	42703643	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:42703643G>A	uc002osu.1	-	4	996	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Missense_Mutation_p.R305C	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	310					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				AGCAACAGGCGGCGCCGGCCA	0.672													A	42703643	G	A	42703643	3	1	96	1	0	0	0	0	1	0	0	0	4385	1116	39	2	56	2	DEDD2	19	42703643	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	305099	42703643	16425340	225	6469											
PSG8	440533	broad.mit.edu	37	19	43259226	43259226	+	Missense_Mutation	SNP	G	G	A	rs150991804		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:43259226G>A	uc002ouo.2	-	3	1000	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T301M|PSG8_uc010ein.3_Missense_Mutation_p.T179M|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	301	Ig-like C2-type 2.					extracellular region		p.V300V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.478													A	43259226	G	A	43259226	3	1	96	1	0	0	0	0	1	0	0	0	12661	1145	40	1	407	1	PSG8	19	43259226	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	555583	43259226	15869757	226	6470											
EML2	24139	broad.mit.edu	37	19	46137650	46137650	+	Missense_Mutation	SNP	C	C	T	rs143778766		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46137650C>T	uc010xxm.2	-	6	935	c.862G>A	c.(862-864)Gta>Ata	p.V288I	EML2_uc002pcn.3_Missense_Mutation_p.V87I|EML2_uc002pcp.3_Intron|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.V234I|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.V87I|EML2_uc010ekj.3_Missense_Mutation_p.V87I	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	87					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGCACGGCTACGGAGGCCACA	0.607													T	46137650	C	T	46137650	3	4	96	1	0	0	0	0	1	0	0	0	5097	536	19	1	1754	1	EML2	19	46137650	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	2878424	46137650	12991333	227	6471											
SYMPK	8189	broad.mit.edu	37	19	46345702	46345702	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46345702C>T	uc002pdn.3	-	8	1138	c.893G>A	c.(892-894)cGt>cAt	p.R298H	SYMPK_uc002pdo.1_Missense_Mutation_p.R298H|SYMPK_uc002pdp.1_Missense_Mutation_p.R298H|SYMPK_uc002pdq.2_Missense_Mutation_p.R298H	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	298					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGATTCTTACGCACACTGCT	0.592													T	46345702	C	T	46345702	3	4	96	1	0	0	0	0	1	0	0	0	15436	536	19	1	3007	1	SYMPK	19	46345702	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	208052	46345702	12783281	228	6472											
SYMPK	8189	broad.mit.edu	37	19	46351088	46351088	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46351088C>T	uc002pdn.3	-	6	843	c.598G>A	c.(598-600)Gac>Aac	p.D200N	SYMPK_uc002pdo.1_Missense_Mutation_p.D200N|SYMPK_uc002pdp.1_Missense_Mutation_p.D200N|SYMPK_uc002pdq.2_Missense_Mutation_p.D200N	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	200					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATCTCTGAGTCAGCCATGCGG	0.577													T	46351088	C	T	46351088	3	4	96	1	0	0	0	0	1	0	0	0	15436	826	29	3	3310	3	SYMPK	19	46351088	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	5386	46351088	12777895	229	6473											
GRIN2D	2906	broad.mit.edu	37	19	48945047	48945047	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:48945047C>T	uc002pjc.4	+	10	2362	c.2274C>T	c.(2272-2274)taC>taT	p.Y758Y	GRIN2D_uc010elx.3_5'UTR	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	758						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCTTCATCTACGATGCTGCAG	0.622													T	48945047	C	T	48945047	2	4	96	1	0	0	0	0	0	0	0	1	6782	547	19	1		1	GRIN2D	19	48945047	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2593959	48945047	10183936	230	6474											
TSKS	60385	broad.mit.edu	37	19	50243103	50243103	+	Missense_Mutation	SNP	G	G	A	rs141726866	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:50243103G>A	uc002ppm.3	-	10	1720	c.1709C>T	c.(1708-1710)aCg>aTg	p.T570M		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	570							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CATTGTTCCCGTGGACCCCTC	0.562													A	50243103	G	A	50243103	3	1	96	1	0	0	0	0	1	0	0	0	16623	1145	40	1	73	1	TSKS	19	50243103	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1298056	50243103	8885880	231	6475											
SIGLEC6	946	broad.mit.edu	37	19	52034117	52034117	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:52034117C>T	uc002pwy.3	-	2	732	c.524G>A	c.(523-525)gGg>gAg	p.G175E	SIGLEC6_uc002pwz.3_Missense_Mutation_p.G175E|SIGLEC6_uc010ydb.2_Missense_Mutation_p.G139E|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G175E|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G175E|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epa.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epb.2_Missense_Mutation_p.G128E	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	175	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGGCGTCCCCTGCTCACA	0.667													T	52034117	C	T	52034117	3	4	96	1	0	0	0	0	1	0	0	0	14312	623	22	3	894	3	SIGLEC6	19	52034117	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1791014	52034117	7094866	232	6476											
FPR1	2357	broad.mit.edu	37	19	52249297	52249297	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:52249297G>A	uc021uyn.1	-	2	1097	c.951C>T	c.(949-951)ccC>ccT	p.P317P	FPR1_uc002pxq.3_Silent_p.P317P|FPR1_uc021uyo.1_Silent_p.P317P	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	317					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCAGACTGGCGGGAAGGGCGT	0.557													A	52249297	G	A	52249297	2	1	96	1	0	0	0	0	0	0	0	1	6038	1103	39	2		2	FPR1	19	52249297	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	215180	52249297	6879686	233	6477											
PREX1	57580	broad.mit.edu	37	20	47249039	47249039	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr20:47249039G>A	uc002xtw.1	-	33	4429	c.4406C>T	c.(4405-4407)aCg>aTg	p.T1469M	PREX1_uc002xtv.1_Missense_Mutation_p.T766M	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1469					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.T1469T(1)		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)			CTCACCTTTCGTGAACAGCGC	0.677													A	47249039	G	A	47249039	3	1	96	1	0	0	0	0	1	0	0	0	12476	1145	40	1	601	1	PREX1	20	47249039	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		47249039	15776481	234	6478											
EEF1A2	1917	broad.mit.edu	37	20	62126254	62126254	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr20:62126254G>A	uc002yfe.1	-	3	691	c.525C>T	c.(523-525)agC>agT	p.S175S		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	175						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.V174A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGATGTAGGCGCTGACTTCCT	0.602													A	62126254	G	A	62126254	2	1	96	1	0	0	0	0	0	0	0	1	4924	1078	38	1		1	EEF1A2	20	62126254	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	14877215	62126254	899266	235	6479											
ADAMTS5	11096	broad.mit.edu	37	21	28338467	28338467	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:28338467A>C	uc002ymg.3	-	0	973	c.244T>G	c.(244-246)Tcc>Gcc	p.S82A		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	82					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			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						CCGCCGCCGGAGTAGAGTTGG	0.697													C	28338467	A	C	28338467	3	2	96	1	0	0	0	0	1	0	0	0	269	304	11	5	2580	5	ADAMTS5	21	28338467	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08		28338467	19791428	236	6480											
HSF2BP	11077	broad.mit.edu	37	21	44949729	44949729	+	Missense_Mutation	SNP	G	G	A	rs138290442	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:44949729G>A	uc002zdi.3	-	8	1242	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	HSF2BP_uc011aey.2_Missense_Mutation_p.R229C	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	304					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GCCAGGATGCGTTGCAGGGGC	0.587													A	44949729	G	A	44949729	3	1	96	1	0	0	0	0	1	0	0	0	7397	1145	40	1	98	1	HSF2BP	21	44949729	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	16611262	44949729	3180166	237	6481											
ICOSLG	23308	broad.mit.edu	37	21	45657075	45657075	+	Silent	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:45657075C>T	uc010gpp.1	-	2	215	c.81G>A	c.(79-81)gcG>gcA	p.A27A	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Silent_p.A27A|ICOSLG_uc011afc.2_Intron	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	27	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCTACCATCGCTCTGACTT	0.498													T	45657075	C	T	45657075	2	4	96	1	0	0	0	0	0	0	0	1	7487	871	31	2		2	ICOSLG	21	45657075	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	707346	45657075	2472820	238	6482											
PFKL	5211	broad.mit.edu	37	21	45732042	45732042	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:45732042C>T	uc002zek.3	+	6	834	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PFKL_uc002zel.3_Missense_Mutation_p.R98C|PFKL_uc011afd.1_Missense_Mutation_p.R145C			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	98					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAGGGAGGGGCGCCGGGCAGC	0.642													T	45732042	C	T	45732042	3	4	96	1	0	0	0	0	1	0	0	0	11764	768	27	1	306	1	PFKL	21	45732042	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	74967	45732042	2397853	239	6483											
MICAL3	57553	broad.mit.edu	37	22	18301786	18301786	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:18301786G>A	uc002zng.4	-	25	3994	c.3641C>T	c.(3640-3642)tCg>tTg	p.S1214L	MICAL3_uc011agl.2_Missense_Mutation_p.S1130L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1214	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.S1214L(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTTCAGATCCGAGGGGGCATC	0.622													A	18301786	G	A	18301786	3	1	96	1	0	0	0	0	1	0	0	0	9571	1059	37	2	2395	2	MICAL3	22	18301786	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		18301786	33002780	240	6484											
TSSK2	23617	broad.mit.edu	37	22	19119833	19119833	+	Silent	SNP	C	C	T	rs150037057		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:19119833C>T	uc002zow.2	+	0	1513	c.921C>T	c.(919-921)ccC>ccT	p.P307P	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	307					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCTTGAGGCCCGACCACCGGC	0.637													T	19119833	C	T	19119833	2	4	96	1	0	0	0	0	0	0	0	1	16666	639	23	2		2	TSSK2	22	19119833	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	818047	19119833	32184733	241	6485											
HIRA	7290	broad.mit.edu	37	22	19398254	19398254	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:19398254C>T	uc002zpf.1	-	1	305	c.85G>A	c.(85-87)Gca>Aca	p.A29T	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.A29T|HIRA_uc010gro.2_5'UTR|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	29					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.F28F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTCCAGTTGCGAACTTGGTC	0.408													T	19398254	C	T	19398254	3	4	96	1	0	0	0	0	1	0	0	0	7120	768	27	1	3064	1	HIRA	22	19398254	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	278421	19398254	31906312	242	6486											
TFIP11	24144	broad.mit.edu	37	22	26906086	26906086	+	Silent	SNP	G	G	A	rs150326842	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:26906086G>A	uc003acr.2	-	2	527	c.153C>T	c.(151-153)taC>taT	p.Y51Y	TFIP11_uc003acs.2_Silent_p.Y51Y|TFIP11_uc003act.2_Silent_p.Y51Y	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	51					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCCACACCCCGTAGGTGGCTT	0.567													A	26906086	G	A	26906086	2	1	96	1	0	0	0	0	0	0	0	1	15804	1140	40	1		1	TFIP11	22	26906086	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	7507832	26906086	24398480	243	6487											
MCM5	4174	broad.mit.edu	37	22	35802697	35802697	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:35802697C>T	uc003anu.4	+	4	669	c.575C>T	c.(574-576)gCc>gTc	p.A192V	MCM5_uc003anv.4_Missense_Mutation_p.A149V|MCM5_uc010gws.2_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	192					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAGGGCTATGCCCTGCCCAGG	0.602													T	35802697	C	T	35802697	3	4	96	1	0	0	0	0	1	0	0	0	9390	739	26	3	589	3	MCM5	22	35802697	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	8896611	35802697	15501869	244	6488											
CSF2RB	1439	broad.mit.edu	37	22	37328885	37328885	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:37328885G>A	uc003aqa.4	+	8	1308	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CSF2RB_uc003aqc.4_Missense_Mutation_p.R370Q	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	364	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.R364Q(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ATGAAAATGCGATACGAACAC	0.552													A	37328885	G	A	37328885	3	1	96	1	0	0	0	0	1	0	0	0	3935	1058	37	2	1121	2	CSF2RB	22	37328885	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1526188	37328885	13975681	245	6489											
FAM19A5	25817	broad.mit.edu	37	22	49042484	49042484	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:49042484G>A	uc003bim.4	+	1	305	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	FAM19A5_uc003bio.4_Missense_Mutation_p.R56Q	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.	63						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		ACGATCGCCCGGCAGACCGCC	0.692													A	49042484	G	A	49042484	3	1	96	1	0	0	0	0	1	0	0	0	5535	1116	39	2	289	2	FAM19A5	22	49042484	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	11713599	49042484	2262082	246	6490											
MOV10L1	54456	broad.mit.edu	37	22	50596540	50596540	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:50596540G>A	uc003bjj.3	+	22	3204	c.3121G>A	c.(3121-3123)Gtc>Atc	p.V1041I	MOV10L1_uc003bjk.4_Missense_Mutation_p.V1041I|MOV10L1_uc011arp.2_Missense_Mutation_p.V1021I|MOV10L1_uc003bjl.3_Missense_Mutation_p.V168I|MOV10L1_uc003bjm.1_Missense_Mutation_p.V84I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1041					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGCCGAGGCCGTCCAGGTCCT	0.587													A	50596540	G	A	50596540	3	1	96	1	0	0	0	0	1	0	0	0	9719	1145	40	1	3264	1	MOV10L1	22	50596540	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1554056	50596540	708026	247	6491											
NCAPH2	29781	broad.mit.edu	37	22	50957116	50957116	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:50957116G>A	uc003blx.4	+	7	807	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	NCAPH2_uc003blq.4_Missense_Mutation_p.V229M|NCAPH2_uc003blv.3_Missense_Mutation_p.V229M|NCAPH2_uc003blr.4_Missense_Mutation_p.V229M	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	229					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGAAGTTTCCGTGTGCAGGAG	0.647													A	50957116	G	A	50957116	3	1	96	1	0	0	0	0	1	0	0	0	10210	1145	40	1	715	1	NCAPH2	22	50957116	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	360576	50957116	347450	248	6492											
ZBED1	9189	broad.mit.edu	37	X	2408513	2408513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:2408513G>A	uc022brx.1	-	0	248	c.248C>T	c.(247-249)aCg>aTg	p.T83M	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.T83M|ZBED1_uc004cqg.2_Missense_Mutation_p.T83M|ZBED1_uc022brw.1_Missense_Mutation_p.T83M	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	83						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			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)				CATCTGCTCCGTGTTGCTCTT	0.632													A	2408513	G	A	2408513	3	1	96	1	0	0	0	0	1	0	0	0	17514	1145	40	1	1840	1	ZBED1	23	2408513	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		2408513	152862047	249	6493											
CXorf22	170063	broad.mit.edu	37	X	35993898	35993898	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:35993898C>T	uc004ddj.3	+	14	2647	c.2581C>T	c.(2581-2583)Cga>Tga	p.R861*	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	861										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGAGACCACGAGGCTTCTT	0.438													T	35993898	C	T	35993898	4	4	96	1	0	0	0	0	0	1	0	0	4102	528	19	1	2639	1	CXorf22	23	35993898	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	33585385	35993898	119276662	250	6494											
BMP15	9210	broad.mit.edu	37	X	50659329	50659329	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:50659329C>T	uc011mnw.2	+	1	950	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	301					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCAGCTTCCGCCAGCTGGG	0.498													T	50659329	C	T	50659329	3	4	96	1	0	0	0	0	1	0	0	0	1458	652	23	2	907	2	BMP15	23	50659329	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	14665431	50659329	104611231	251	6495											
ATRX	546	broad.mit.edu	37	X	76814187	76814187	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:76814187G>A	uc004ecp.4	-	28	6689	c.6457C>T	c.(6457-6459)Cgc>Tgc	p.R2153C	ATRX_uc004ecq.4_Missense_Mutation_p.R2115C|ATRX_uc004eco.4_Missense_Mutation_p.R1938C	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2153	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R2153C(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGTCCAAAGCGATAAACTCTG	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76814187	G	A	76814187	3	1	96	1	0	0	0	0	1	0	0	0	1208	1058	37	2	1049	2	ATRX	23	76814187	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	26154858	76814187	78456373	252	6496											
PCDH19	57526	broad.mit.edu	37	X	99662086	99662086	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:99662086T>C	uc010nmz.3	-	0	3186	c.1510A>G	c.(1510-1512)Acc>Gcc	p.T504A	PCDH19_uc004efw.4_Missense_Mutation_p.T504A|PCDH19_uc004efx.4_Missense_Mutation_p.T504A	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	504	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGACATAGGTGAAGACAGGC	0.577													C	99662086	T	C	99662086	3	2	96	1	0	0	0	0	1	0	0	0	11514	1696	59	4	1960	4	PCDH19	23	99662086	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	22847899	99662086	55608474	253	6497											
FLNA	2316	broad.mit.edu	37	X	153580717	153580717	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:153580717G>A	uc004fkk.2	-	40	6850	c.6601C>T	c.(6601-6603)Cgc>Tgc	p.R2201C	FLNA_uc011mzn.1_Missense_Mutation_p.R334C|FLNA_uc010nuu.1_Missense_Mutation_p.R2193C	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2201					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAACAAAGCGGATGCAGTAG	0.597													A	153580717	G	A	153580717	3	1	96	1	0	0	0	0	1	0	0	0	5933	1116	39	2	1374	2	FLNA	23	153580717	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	53918631	153580717	1689843	254	6498											
FLNA	2316	broad.mit.edu	37	X	153587696	153587696	+	Silent	SNP	G	G	A			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:153587696G>A	uc004fkk.2	-	24	4470	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.D1407D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1407					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCAGCTGCCGTCCTTGTTAT	0.632													A	153587696	G	A	153587696	2	1	96	1	0	0	0	0	0	0	0	1	5933	1136	40	1		1	FLNA	23	153587696	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	6979	153587696	1682864	255	6499											
EPHA8	2046	broad.mit.edu	37	1	22902985	22902985	+	Silent	SNP	C	C	T	rs142515766	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:22902985C>T	uc001bfx.1	+	2	560	c.435C>T	c.(433-435)atC>atT	p.I145I	EPHA8_uc001bfw.3_Silent_p.I145I	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	145						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTCAAAATCGACACCATTG	0.612													T	22902985	C	T	22902985	2	4	97	1	0	0	0	0	0	0	0	1	5173	874	31	2		2	EPHA8	1	22902985	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08		22902985	226347636	1	6500											
FAM129A	116496	broad.mit.edu	37	1	184764446	184764446	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:184764446C>T	uc001gra.3	-	13	2646	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	818	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGCAGGCCTCTCCTGGGAGC	0.647													T	184764446	C	T	184764446	3	4	97	1	0	0	0	0	1	0	0	0	5436	922	32	3	338	3	FAM129A	1	184764446	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	161861461	184764446	64486175	2	6501											
CACNA1S	779	broad.mit.edu	37	1	201052298	201052298	+	Missense_Mutation	SNP	C	C	T	rs146696298		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:201052298C>T	uc001gvv.3	-	9	1612	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	462					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCTTGCAAACGGGTCAGCCA	0.557													T	201052298	C	T	201052298	3	4	97	1	0	0	0	0	1	0	0	0	2547	536	19	1	4376	1	CACNA1S	1	201052298	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	16287852	201052298	48198323	3	6502											
KLHL12	59349	broad.mit.edu	37	1	202862387	202862387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:202862387delC	uc001gyo.1	-	10	1760	c.1560delG	c.(1558-1560)gggfs	p.G520fs	KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Frame_Shift_Del_p.G558fs|KLHL12_uc009xah.1_Frame_Shift_Del_p.G419fs	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	520	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CATAGAGTCTCCCCCGAAGCA	0.468													-	202862387	C	-	202862387	7	5	97	1	0	1	0	1	0	0	0	0	8368	842	30	0	154	0	KLHL12	1	202862387	Frame_Shift_Del	DEL	C	TCGA-06-5859-01A-01D-1696-08	1810089	202862387	46388234	4	6503											
CCDC85A	114800	broad.mit.edu	37	2	56599613	56599613	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:56599613G>A	uc002rzn.3	+	4	1954	c.1452_splice	c.e4+1	p.P484_splice	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	484										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTACTCTCCCGGTGAGTGAAG	0.517													A	56599613	G	A	56599613	2	1	97	1	0	0	0	0	0	0	0	1	2859	1130	39	2		2	CCDC85A	2	56599613	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		56599613	186599760	5	6504											
BCL11A	53335	broad.mit.edu	37	2	60688423	60688423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:60688423C>T	uc002sae.1	-	3	1852	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	BCL11A_uc002sab.3_Missense_Mutation_p.A542T|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.A211T|BCL11A_uc010ypj.2_Missense_Mutation_p.A508T|BCL11A_uc002sad.1_Missense_Mutation_p.A390T|BCL11A_uc002saf.1_Missense_Mutation_p.A508T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	542					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGGGCAGGGCGCGGCTCTCG	0.701			T	IGH@	B-CLL								T	60688423	C	T	60688423	3	4	97	1	0	0	0	0	1	0	0	0	1363	768	27	1	993	1	BCL11A	2	60688423	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	4088810	60688423	182510950	6	6505											
SGPP2	130367	broad.mit.edu	37	2	223423423	223423423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:223423423C>T	uc010zlo.2	+	4	1006	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F	SGPP2_uc010zlp.2_Missense_Mutation_p.L208F	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	336					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGTGTTGATCCTCTTGGTTCG	0.478													T	223423423	C	T	223423423	3	4	97	1	0	0	0	0	1	0	0	0	14220	681	24	3	1024	3	SGPP2	2	223423423	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	162735000	223423423	19775950	7	6506											
LHFPL4	375323	broad.mit.edu	37	3	9594193	9594193	+	Silent	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:9594193G>T	uc003bry.3	-	1	457	c.171C>A	c.(169-171)ggC>ggA	p.G57G		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	57						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCCGAAGTAGCCAGGCTTGG	0.652													T	9594193	G	T	9594193	2	4	97	1	0	0	0	0	0	0	0	1	8767	958	34	5		5	LHFPL4	3	9594193	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		9594193	188428237	8	6507											
NPRL2	10641	broad.mit.edu	37	3	50386328	50386328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50386328G>A	uc003daj.1	-	4	965	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	188					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGTCCCACTGTGAGTTGAAG	0.537													A	50386328	G	A	50386328	4	1	97	1	0	0	0	0	0	1	0	0	10597	1386	48	3	608	3	NPRL2	3	50386328	Nonsense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	40792135	50386328	147636102	9	6508											
NPRL2	10641	broad.mit.edu	37	3	50387415	50387416	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50387415_50387416delTG	uc003daj.1	-	1	519_520	c.116_117delCA	c.(115-117)acafs	p.T39fs	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	39	Interaction with PDPK1.				negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						ACACTTGGACTGTGTCAAACAG	0.559													-	50387416	TG	-	50387415	7	5	97	1	0	1	0	1	0	0	0	0	10597	1567	55	0	1065	0	NPRL2	3	50387415	Frame_Shift_Del	DEL	TG	TCGA-06-5859-01A-01D-1696-08	1087	50387415	147635015	10	6509											
KLHL6	89857	broad.mit.edu	37	3	183226008	183226008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:183226008G>A	uc003flr.3	-	2	806	c.748C>T	c.(748-750)Cga>Tga	p.R250*	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Nonsense_Mutation_p.R248*	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	250	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AAGCAGAGTCGTTCTGATGGC	0.552													A	183226008	G	A	183226008	4	1	97	1	0	0	0	0	0	1	0	0	8393	1153	40	1	1137	1	KLHL6	3	183226008	Nonsense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	132838593	183226008	14796422	11	6510											
PDS5A	23244	broad.mit.edu	37	4	39865056	39865056	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:39865056C>T	uc003guv.4	-	23	3206	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	889					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGCAGCTAATCGCAAGCGAGA	0.348													T	39865056	C	T	39865056	3	4	97	1	0	0	0	0	1	0	0	0	11691	884	31	2	1387	2	PDS5A	4	39865056	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		39865056	151289220	12	6511											
FRAS1	80144	broad.mit.edu	37	4	79350365	79350365	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:79350365G>A	uc003hlb.2	+	35	5268	c.4828G>A	c.(4828-4830)Ggc>Agc	p.G1610S	FRAS1_uc003hkw.3_Missense_Mutation_p.G1610S|FRAS1_uc010ijj.2_Missense_Mutation_p.G30S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1609					cell communication	integral to membrane|plasma membrane	metal ion binding	p.G1610G(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						CAGCCCAGGAGGCAGCACTTC	0.527													A	79350365	G	A	79350365	3	1	97	1	0	0	0	0	1	0	0	0	6042	1000	35	3	4970	3	FRAS1	4	79350365	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	39485309	79350365	111803911	13	6512											
GK	2713	broad.mit.edu	37	4	166200284	166200284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:166200284G>A	uc003ird.3	-	0	892	c.514C>T	c.(514-516)Cga>Tga	p.R172*	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	172					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AAAAGAGCTCGTTTTTCTTCA	0.453													A	166200284	G	A	166200284	4	1	97	1	0	0	0	0	0	1	0	0	6420	1160	40	1		1	GK	4	166200284	Nonsense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	86849919	166200284	24953992	14	6513											
TRIML1	339976	broad.mit.edu	37	4	189068102	189068102	+	Missense_Mutation	SNP	C	C	T	rs147254109		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:189068102C>T	uc003izm.1	+	5	1098	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_uc003izn.1_Missense_Mutation_p.A52V	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	328	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.A328V(2)		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)		GACCAGTCTGCGACTGTGCTG	0.537													T	189068102	C	T	189068102	3	4	97	1	0	0	0	0	1	0	0	0	16547	768	27	1	1005	1	TRIML1	4	189068102	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	22867818	189068102	2086174	15	6514											
DNAH5	1767	broad.mit.edu	37	5	13762882	13762882	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:13762882C>T	uc003jfd.2	-	59	10272	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3410	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					CCATAGCTTTCGTCCAGGAAC	0.453									Kartagener syndrome				T	13762882	C	T	13762882	2	4	97	1	0	0	0	0	0	0	0	1	4604	871	31	2		2	DNAH5	5	13762882	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08		13762882	167152378	16	6515											
OCLN	4950	broad.mit.edu	37	5	68805301	68805301	+	Silent	SNP	C	C	T	rs150730577	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:68805301C>T	uc003jwu.3	+	2	820	c.384C>T	c.(382-384)taC>taT	p.Y128Y	OCLN_uc003jwv.4_Silent_p.Y128Y|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	128	Gly/Tyr-rich.|MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	p.Y128H(1)		endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		gctatggctaCGGAGGCTATA	0.488													T	68805301	C	T	68805301	2	4	97	1	0	0	0	0	0	0	0	1	10820	547	19	1		1	OCLN	5	68805301	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	55042419	68805301	112109959	17	6516											
ADAMTS19	171019	broad.mit.edu	37	5	129015540	129015540	+	Missense_Mutation	SNP	G	G	A	rs149851287		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:129015540G>A	uc003kvb.1	+	16	2572	c.2572G>A	c.(2572-2574)Gtt>Att	p.V858I	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	858	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGGAACTACCGTTCATTATGT	0.433													A	129015540	G	A	129015540	3	1	97	1	0	0	0	0	1	0	0	0	264	1145	40	1	2638	1	ADAMTS19	5	129015540	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	60210239	129015540	51899720	18	6517											
CARD11	84433	broad.mit.edu	37	7	2983971	2983971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:2983971G>A	uc003smv.3	-	4	893	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	187					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TAGCTGTCCCGCTCTTCCTTC	0.557			Mis		DLBCL								A	2983971	G	A	2983971	3	1	97	1	0	0	0	0	1	0	0	0	2645	1086	38	1	2989	1	CARD11	7	2983971	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		2983971	156154692	19	6518											
HERPUD2	64224	broad.mit.edu	37	7	35712865	35712865	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:35712865C>T	uc003tes.4	-	2	830	c.171G>A	c.(169-171)gtG>gtA	p.V57V	HERPUD2_uc003tet.3_Silent_p.V57V	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	57	Ubiquitin-like.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCCCGAATACACCAATCTCT	0.373													T	35712865	C	T	35712865	2	4	97	1	0	0	0	0	0	0	0	1	7064	465	17	3		3	HERPUD2	7	35712865	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	32728894	35712865	123425798	20	6519											
FAM40B	57464	broad.mit.edu	37	7	129104580	129104580	+	Splice_Site	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:129104580G>A	uc011koy.2	+	16	1816	c.1776_splice	c.e16+1	p.Q592_splice	FAM40B_uc003vow.3_Splice_Site_p.Q592_splice|FAM40B_uc011koz.2_Splice_Site_p.Q84_splice	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	592										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATCTACCAGGTGAGCAGCTA	0.468													A	129104580	G	A	129104580	5	1	97	1	0	0	0	0	0	0	1	0	5561	1275	44	3	1839	3	FAM40B	7	129104580	Splice_Site	SNP	G	TCGA-06-5859-01A-01D-1696-08	93391715	129104580	30034083	21	6520											
CREB3L2	64764	broad.mit.edu	37	7	137686380	137686380	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:137686380G>A	uc003vtw.3	-	0	468	c.72C>T	c.(70-72)ccC>ccT	p.P24P	CREB3L2_uc003vtx.2_Silent_p.P24P|CREB3L2_uc003vty.4_Silent_p.P24P|AKR1D1_uc011kqd.1_5'Flank|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	24					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CGCCGTCCCCGGGCTCTGACA	0.706			T	FUS	fibromyxoid sarcoma								A	137686380	G	A	137686380	2	1	97	1	0	0	0	0	0	0	0	1	3857	1103	39	2		2	CREB3L2	7	137686380	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08	8581800	137686380	21452283	22	6521											
TAS2R60	338398	broad.mit.edu	37	7	143140562	143140562	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:143140562T>C	uc011ktg.2	+	0	17	c.17T>C	c.(16-18)aTg>aCg	p.M6T	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	6					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGAGACCACATGGTTCTAGGA	0.468													C	143140562	T	C	143140562	3	2	97	1	0	0	0	0	1	0	0	0	15582	1464	51	4	19	4	TAS2R60	7	143140562	Missense_Mutation	SNP	T	TCGA-06-5859-01A-01D-1696-08	5454182	143140562	15998101	23	6522											
SSPO	23145	broad.mit.edu	37	7	149509076	149509076	+	Missense_Mutation	SNP	C	C	T	rs139588484	by1000genomes	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:149509076C>T	uc010lpk.3	+	67	9613	c.9613C>T	c.(9613-9615)Cgg>Tgg	p.R3205W		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3208	TSP type-1 11.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCATCGGCACCGGTTCTGTGC	0.687													T	149509076	C	T	149509076	3	4	97	1	0	0	0	0	1	0	0	0	15188	643	23	2	9886	2	SSPO	7	149509076	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	6368514	149509076	9629587	24	6523											
DOCK5	80005	broad.mit.edu	37	8	25181427	25181427	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:25181427C>A	uc003xeg.3	+	16	1816	c.1679C>A	c.(1678-1680)aCc>aAc	p.T560N	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.T274N|DOCK5_uc003xei.3_Missense_Mutation_p.T130N|DOCK5_uc003xej.3_5'Flank	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	560	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCGGATGGCACCACTCTGCAG	0.488													A	25181427	C	A	25181427	3	1	97	1	0	0	0	0	1	0	0	0	4690	507	18	5	1745	5	DOCK5	8	25181427	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		25181427	121182595	25	6524											
TEX15	56154	broad.mit.edu	37	8	30700338	30700338	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:30700338C>T	uc003xil.3	-	0	6196	c.6196G>A	c.(6196-6198)Gtc>Atc	p.V2066I		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2066										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)		GAGACCATGACGATTTCAATA	0.338													T	30700338	C	T	30700338	3	4	97	1	0	0	0	0	1	0	0	0	15776	536	19	1	2189	1	TEX15	8	30700338	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	5518911	30700338	115663684	26	6525											
PCMTD1	115294	broad.mit.edu	37	8	52733200	52733200	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:52733200T>A	uc003xqx.4	-	5	1126	c.785A>T	c.(784-786)gAg>gTg	p.E262V	PCMTD1_uc011ldm.2_Missense_Mutation_p.E132V|PCMTD1_uc011ldn.2_Missense_Mutation_p.E74V|PCMTD1_uc010lya.3_Missense_Mutation_p.E186V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	262						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.E262E(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGCCTGCATCTCATCATTTAT	0.408													A	52733200	T	A	52733200	3	1	97	1	0	0	0	0	1	0	0	0	11586	1551	54	5	292	5	PCMTD1	8	52733200	Missense_Mutation	SNP	T	TCGA-06-5859-01A-01D-1696-08	22032862	52733200	93630822	27	6526											
TCEA1	6917	broad.mit.edu	37	8	54897020	54897020	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:54897020C>T	uc003xru.3	-	6	904	c.581G>A	c.(580-582)aGg>aAg	p.R194K	TCEA1_uc003xrv.3_Missense_Mutation_p.R173K|TCEA1_uc011ldw.2_Intron|TCEA1_uc010lyg.3_Non-coding_Transcript	NM_006756	NP_006747	P23193	TCEA1_HUMAN	Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA.	194	TFIIS central.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATTTGATATCCTACTTCGTAC	0.333			T	PLAG1	salivary adenoma								T	54897020	C	T	54897020	3	4	97	1	0	0	0	0	1	0	0	0	15664	681	24	3	340	3	TCEA1	8	54897020	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	2163820	54897020	91467002	28	6527											
OPLAH	26873	broad.mit.edu	37	8	145108275	145108275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:145108275G>A	uc003zar.3	-	19	2790	c.2708C>T	c.(2707-2709)gCg>gTg	p.A903V	OPLAH_uc003zas.1_Silent_p.G177G	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	903							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTTGCCTGGCGCCCGCAGGGC	0.642													A	145108275	G	A	145108275	3	1	97	1	0	0	0	0	1	0	0	0	10876	1087	38	1	1192	1	OPLAH	8	145108275	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	90211255	145108275	1255747	29	6528											
TLE4	7091	broad.mit.edu	37	9	82333807	82333807	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:82333807C>T	uc004ald.3	+	15	2435	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	TLE4_uc004alc.3_Missense_Mutation_p.T504M|TLE4_uc010mpr.3_Missense_Mutation_p.T383M|TLE4_uc004ale.3_Missense_Mutation_p.T141M|TLE4_uc011lsq.2_Missense_Mutation_p.T472M|TLE4_uc010mps.3_Missense_Mutation_p.T428M|TLE4_uc004alf.3_Missense_Mutation_p.T443M	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CACGTGTACACGGGTGGGAAG	0.602													T	82333807	C	T	82333807	3	4	97	1	0	0	0	0	1	0	0	0	15938	536	19	1	1569	1	TLE4	9	82333807	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		82333807	58879624	30	6529											
ABL1	25	broad.mit.edu	37	9	133750310	133750310	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:133750310G>T	uc004bzw.3	+	6	1144	c.1141G>T	c.(1141-1143)Gat>Tat	p.D381Y	ABL1_uc004bzv.3_Missense_Mutation_p.D400Y	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	381	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAAGGTAGCTGATTTTGGCCT	0.537			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								T	133750310	G	T	133750310	3	4	97	1	0	0	0	0	1	0	0	0	92	1290	45	5	1307	5	ABL1	9	133750310	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	51416503	133750310	7463121	31	6530											
LHX3	8022	broad.mit.edu	37	9	139091685	139091685	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:139091685G>A	uc004cgz.3	-	2	427	c.308C>T	c.(307-309)cCg>cTg	p.P103L	LHX3_uc022bpm.1_Silent_p.P119P|LHX3_uc004cha.3_Missense_Mutation_p.P98L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	98	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I102V(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGCGTGGGCGGGATGCCCAG	0.716													A	139091685	G	A	139091685	3	1	97	1	0	0	0	0	1	0	0	0	8772	1116	39	2	916	2	LHX3	9	139091685	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	5341375	139091685	2121746	32	6531											
PPME1	51400	broad.mit.edu	37	11	73914828	73914828	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr11:73914828A>T	uc001ouw.3	+	1	256	c.157A>T	c.(157-159)Atg>Ttg	p.M53L	PPME1_uc009yty.3_5'Flank	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.	53					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTTTGAGTCCATGGAAGATGT	0.373													T	73914828	A	T	73914828	3	4	97	1	0	0	0	0	1	0	0	0	12347	217	8	5	163	5	PPME1	11	73914828	Missense_Mutation	SNP	A	TCGA-06-5859-01A-01D-1696-08		73914828	61091688	33	6532											
CLECL1	160365	broad.mit.edu	37	12	9885637	9885637	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:9885637delA	uc001qwi.3	-	0	259	c.224delT	c.(223-225)ttgfs	p.L75fs	CLECL1_uc001qwj.3_Frame_Shift_Del_p.L75fs	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN	Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.	75						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGCACAGATCAAAAAGAGAGA	0.423													-	9885637	A	-	9885637	7	5	97	1	0	1	0	1	0	0	0	0	3523	131	5	0	287	0	CLECL1	12	9885637	Frame_Shift_Del	DEL	A	TCGA-06-5859-01A-01D-1696-08		9885637	123966258	34	6533											
C12orf40	283461	broad.mit.edu	37	12	40040162	40040162	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:40040162G>C	uc001rmc.3	+	3	401	c.234G>C	c.(232-234)atG>atC	p.M78I	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	78										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGTGAACATGAATAGAGACA	0.279													C	40040162	G	C	40040162	3	2	97	1	0	0	0	0	1	0	0	0	1686	1290	45	5	248	5	C12orf40	12	40040162	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	30154525	40040162	93811733	35	6534											
DHRS2	10202	broad.mit.edu	37	14	24108199	24108199	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr14:24108199G>A	uc001wkt.4	+	1	573	c.126G>A	c.(124-126)acG>acA	p.T42T	DHRS2_uc010aku.1_Silent_p.T42T|DHRS2_uc001wku.4_Silent_p.T42T|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	20					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCGTGGTCACGGGGTCCACCA	0.597													A	24108199	G	A	24108199	2	1	97	1	0	0	0	0	0	0	0	1	4490	1103	39	2		2	DHRS2	14	24108199	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		24108199	83241341	36	6535											
C15orf42	90381	broad.mit.edu	37	15	90168464	90168464	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr15:90168464C>T	uc002boe.3	+	19	4923	c.4923C>T	c.(4921-4923)acC>acT	p.T1641T	C15orf42_uc021sug.1_Silent_p.T1640T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1641					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGGGGCAAACCTACATCTGCC	0.612													T	90168464	C	T	90168464	2	4	97	1	0	0	0	0	0	0	0	1	1796	668	24	3		3	C15orf42	15	90168464	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08		90168464	12362928	37	6536											
MSLN	10232	broad.mit.edu	37	16	816982	816982	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:816982G>A	uc002cjw.2	+	13	1606	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	MSLN_uc002cju.1_Missense_Mutation_p.E491K|MSLN_uc002cjt.1_Missense_Mutation_p.E491K|MSLN_uc010brd.1_Missense_Mutation_p.E490K|MSLN_uc002cjy.1_Missense_Mutation_p.E156K	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	499					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GAACGGGTCCGAATACTTCGT	0.632													A	816982	G	A	816982	3	1	97	1	0	0	0	0	1	0	0	0	9881	1059	37	2	1545	2	MSLN	16	816982	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		816982	89537771	38	6537											
PPL	5493	broad.mit.edu	37	16	4945705	4945705	+	Missense_Mutation	SNP	C	C	T	rs142355114		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:4945705C>T	uc002cyd.1	-	9	1075	c.985G>A	c.(985-987)Gtg>Atg	p.V329M		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	329					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGTCCTTCACGTCTTCGTGA	0.577													T	4945705	C	T	4945705	3	4	97	1	0	0	0	0	1	0	0	0	12334	536	19	1	4337	1	PPL	16	4945705	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	4128723	4945705	85409048	39	6538											
SRCAP	10847	broad.mit.edu	37	16	30721206	30721206	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:30721206G>A	uc002dze.1	+	7	1276	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SRCAP_uc021tgn.1_Silent_p.E297E|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.E154E|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	297	Glu-rich.				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			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)			ATGAGGAAGAGGATGATGAGG	0.522													A	30721206	G	A	30721206	2	1	97	1	0	0	0	0	0	0	0	1	15134	991	35	3		3	SRCAP	16	30721206	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08	25775501	30721206	59633547	40	6539											
ZNF99	7652	broad.mit.edu	37	19	22941588	22941588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:22941588C>T	uc021urt.1	-	3	1278	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											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)				AAAGCTTTGCCGCATTCTTCA	0.368													T	22941588	C	T	22941588	3	4	97	1	0	0	0	0	1	0	0	0	18201	652	23	2	2274	2	ZNF99	19	22941588	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		22941588	36187395	41	6540											
MAP4K1	11184	broad.mit.edu	37	19	39104548	39104548	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39104548G>A	uc002oix.1	-	7	613	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.2_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	169	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAAGAGAGGCGTCTGGCCAGT	0.627													A	39104548	G	A	39104548	3	1	97	1	0	0	0	0	1	0	0	0	9259	1145	40	1	2158	1	MAP4K1	19	39104548	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	16162960	39104548	20024435	42	6541											
ACTN4	81	broad.mit.edu	37	19	39219650	39219650	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39219650C>T	uc002oja.2	+	19	2552	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	ACTN4_uc021uug.1_Silent_p.F592F	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	811	EF-hand 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCCGAGTTCAACCGCATCA	0.632													T	39219650	C	T	39219650	2	4	97	1	0	0	0	0	0	0	0	1	207	825	29	3		3	ACTN4	19	39219650	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	115102	39219650	19909333	43	6542											
NCCRP1	342897	broad.mit.edu	37	19	39691346	39691346	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39691346C>T	uc002okq.1	+	5	797	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	260	FBA.				protein catabolic process			p.R260R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGGTGGGCTGCGGCGGACACG	0.622													T	39691346	C	T	39691346	3	4	97	1	0	0	0	0	1	0	0	0	10213	759	27	1	800	1	NCCRP1	19	39691346	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	471696	39691346	19437637	44	6543											
FCGBP	8857	broad.mit.edu	37	19	40396029	40396029	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:40396029C>T	uc002omp.4	-	14	7376	c.7368G>A	c.(7366-7368)tcG>tcA	p.S2456S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2456	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGATCTCCCGACGCCTGGC	0.682													T	40396029	C	T	40396029	2	4	97	1	0	0	0	0	0	0	0	1	5778	639	23	2		2	FCGBP	19	40396029	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	704683	40396029	18732954	45	6544											
ZNF526	116115	broad.mit.edu	37	19	42730234	42730234	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:42730234C>T	uc002osz.1	+	2	1835	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L	ZNF526_uc021uvc.1_Missense_Mutation_p.P560L	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCCGCGCCCCCCGCCTCCCC	0.652													T	42730234	C	T	42730234	3	4	97	1	0	0	0	0	1	0	0	0	17964	623	22	3	1681	3	ZNF526	19	42730234	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	2334205	42730234	16398749	46	6545											
NCOA6	23054	broad.mit.edu	37	20	33364240	33364240	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:33364240G>T	uc002xav.3	-	4	2818	c.247C>A	c.(247-249)Cta>Ata	p.L83I	NCOA6_uc002xaw.3_Missense_Mutation_p.L83I|NCOA6_uc021wcd.1_Missense_Mutation_p.L83I|NCOA6_uc021wce.1_Missense_Mutation_p.L83I|NCOA6_uc021wcf.1_Missense_Mutation_p.L83I|NCOA6_uc010gew.1_Missense_Mutation_p.L83I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	83	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTACTTTTAGCTTGCTGGAC	0.438													T	33364240	G	T	33364240	3	4	97	1	0	0	0	0	1	0	0	0	10233	962	34	5	5992	5	NCOA6	20	33364240	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		33364240	29661280	47	6546											
SPO11	23626	broad.mit.edu	37	20	55908298	55908298	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:55908298C>G	uc002xye.3	+	2	393	c.300C>G	c.(298-300)atC>atG	p.I100M	SPO11_uc002xyf.3_Missense_Mutation_p.I62M	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	100					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	p.I100I(2)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CCAGAAAGATCAAAAGTGATT	0.303								Editing and processing nucleases					G	55908298	C	G	55908298	3	3	97	1	0	0	0	0	1	0	0	0	15076	816	29	5	310	5	SPO11	20	55908298	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	22544058	55908298	7117222	48	6547											
OSBPL2	9885	broad.mit.edu	37	20	60831247	60831247	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:60831247G>A	uc002yck.1	+	1	209	c.7G>A	c.(7-9)Gga>Aga	p.G3R	OSBPL2_uc002ycl.1_Missense_Mutation_p.G3R|OSBPL2_uc011aah.1_5'UTR	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	3					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGGATGAACGGAGAGGAAGA	0.483													A	60831247	G	A	60831247	3	1	97	1	0	0	0	0	1	0	0	0	11278	1117	39	2	9	2	OSBPL2	20	60831247	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	4922949	60831247	2194273	49	6548											
PIWIL3	440822	broad.mit.edu	37	22	25150829	25150829	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:25150829G>A	uc003abd.1	-	6	1112	c.695C>T	c.(694-696)aCt>aTt	p.T232I	PIWIL3_uc011ajx.1_Missense_Mutation_p.T123I|PIWIL3_uc010gut.1_Missense_Mutation_p.T232I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T123I	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	232					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGCTTGAAAGTTCTGGAAAT	0.333													A	25150829	G	A	25150829	3	1	97	1	0	0	0	0	1	0	0	0	11959	1029	36	3	2013	3	PIWIL3	22	25150829	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		25150829	26153737	50	6549											
PKDREJ	10343	broad.mit.edu	37	22	46655574	46655574	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:46655574C>T	uc003bhh.3	-	0	3646	c.3646G>A	c.(3646-3648)Ggg>Agg	p.G1216R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1216					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCACATGCCCCCGAAGATGC	0.448													T	46655574	C	T	46655574	3	4	97	1	0	0	0	0	1	0	0	0	11970	623	22	3	3119	3	PKDREJ	22	46655574	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	21504745	46655574	4648992	51	6550											
P2RY8	286530	broad.mit.edu	37	X	1584486	1584486	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:1584486G>A	uc022brv.1	-	0	966	c.966C>T	c.(964-966)cgC>cgT	p.R322R	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.R322R	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	322						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				AGAGGCTCTCGCGGCGCGTGT	0.672			T	CRLF2	"B-ALL, Downs associated ALL"								A	1584486	G	A	1584486	2	1	97	1	0	0	0	0	0	0	0	1	11355	1074	38	1		1	P2RY8	23	1584486	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		1584486	153686074	52	6551											
FAM47A	158724	broad.mit.edu	37	X	34149408	34149408	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:34149408G>T	uc004ddg.3	-	0	1040	c.988C>A	c.(988-990)Ccg>Acg	p.P330T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	330										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCAGTCTCCGGAGGCTCCGGG	0.637													T	34149408	G	T	34149408	3	4	97	1	0	0	0	0	1	0	0	0	5569	1174	41	5	1391	5	FAM47A	23	34149408	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	32564922	34149408	121121152	53	6552											
L1CAM	3897	broad.mit.edu	37	X	153130626	153130626	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:153130626G>A	uc004fjb.3	-	20	2897	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	L1CAM_uc004fjc.3_Missense_Mutation_p.S930L|L1CAM_uc010nuo.3_Missense_Mutation_p.S925L	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	930	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					GCTGGTGTTCGACTGGCACTC	0.701													A	153130626	G	A	153130626	3	1	97	1	0	0	0	0	1	0	0	0	8588	1059	37	2	1016	2	L1CAM	23	153130626	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	118981218	153130626	2139934	54	6553											
TNFRSF8	943	broad.mit.edu	37	1	12172031	12172031	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:12172031C>T	uc001atq.3	+	6	975	c.753C>T	c.(751-753)gaC>gaT	p.D251D	TNFRSF8_uc010obc.2_Silent_p.D140D	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	251					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACCTGGACGAGGCCGGCC	0.602													T	12172031	C	T	12172031	2	4	98	1	0	0	0	0	0	0	0	1	16296	535	19	1		1	TNFRSF8	1	12172031	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		12172031	237078590	1	6554											
NT5C1A	84618	broad.mit.edu	37	1	40131873	40131873	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:40131873G>A	uc001cdq.1	-	1	171	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	57					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGCTCGGGAGGACACAGCGA	0.582													A	40131873	G	A	40131873	2	1	98	1	0	0	0	0	0	0	0	1	10685	987	35	3		3	NT5C1A	1	40131873	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	27959842	40131873	209118748	2	6555											
MSH4	4438	broad.mit.edu	37	1	76272802	76272802	+	Silent	SNP	T	T	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:76272802T>C	uc001dhd.2	+	2	679	c.564T>C	c.(562-564)ttT>ttC	p.F188F		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	188					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TATCCCAGTTTGCAGACAACA	0.373								Mismatch excision repair (MMR)					C	76272802	T	C	76272802	2	2	98	1	0	0	0	0	0	0	0	1	9872	1809	63	4		4	MSH4	1	76272802	Silent	SNP	T	TCGA-06-6388-01A-12D-1845-08	36140929	76272802	172977819	3	6556											
ELTD1	64123	broad.mit.edu	37	1	79392712	79392712	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:79392712G>T	uc001diq.4	-	7	1098	c.942C>A	c.(940-942)aaC>aaA	p.N314K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	314					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCAATAAGAAGTTGTCAGATG	0.318													T	79392712	G	T	79392712	3	4	98	1	0	0	0	0	1	0	0	0	5084	1020	36	5	1162	5	ELTD1	1	79392712	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	3119910	79392712	169857909	4	6557											
CCDC76	54482	broad.mit.edu	37	1	100602642	100602643	+	Splice_Site	INS	-	-	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:100602642_100602643insT	uc001dsv.3	+	3	280	c.261_splice	c.e3+1	p.P87_splice	CCDC76_uc010ouf.2_Splice_Site|CCDC76_uc009wea.3_Splice_Site_p.P87_splice	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	87					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		ACCAAAACCTGTAAGTGTTTGA	0.337													T	100602643	-	T	100602642	8	5	98	1	0	1	1	0	0	0	1	0	2850	1391	48	0	272	0	CCDC76	1	100602642	Splice_Site	INS	-	TCGA-06-6388-01A-12D-1845-08	21209930	100602642	148647979	5	6558											
KCND3	3752	broad.mit.edu	37	1	112524445	112524445	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:112524445G>A	uc001ebu.1	-	1	1384	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	KCND3_uc001ebv.1_Missense_Mutation_p.R302C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	302						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGGAGTGGCGGGAAAACTTG	0.582													A	112524445	G	A	112524445	3	1	98	1	0	0	0	0	1	0	0	0	8020	1116	39	2	1091	2	KCND3	1	112524445	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	11921803	112524445	136726176	6	6559											
FLG	2312	broad.mit.edu	37	1	152283656	152283656	+	Missense_Mutation	SNP	G	G	A	rs144184134	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152283656G>A	uc001ezu.1	-	2	3742	c.3706C>T	c.(3706-3708)Cgt>Tgt	p.R1236C	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1236	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TCATGGTGACGTGACCCTGAG	0.562									Ichthyosis				A	152283656	G	A	152283656	3	1	98	1	0	0	0	0	1	0	0	0	5922	1145	40	1	8483	1	FLG	1	152283656	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	39759211	152283656	96966965	7	6560											
FLG2	388698	broad.mit.edu	37	1	152328935	152328935	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152328935C>T	uc001ezw.4	-	2	1400	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	443	Ser-rich.						calcium ion binding|structural molecule activity	p.F442L(1)|p.E443V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACATGTTGTTCGAACCCAGAG	0.448													T	152328935	C	T	152328935	3	4	98	1	0	0	0	0	1	0	0	0	5923	893	31	2	5852	2	FLG2	1	152328935	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	45279	152328935	96921686	8	6561											
SMCP	4184	broad.mit.edu	37	1	152857174	152857174	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152857174G>A	uc021ozk.1	+	0	276	c.276G>A	c.(274-276)ccG>ccA	p.P92P	SMCP_uc001fat.3_Silent_p.P92P	NM_030663	NP_109588	P49901	MCSP_HUMAN	Homo sapiens sperm mitochondria-associated cysteine-rich protein (SMCP), nuclear gene encoding mitochondrial protein, mRNA.	92					penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P92P(2)|p.P92L(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537													A	152857174	G	A	152857174	2	1	98	1	0	0	0	0	0	0	0	1	14789	1074	38	1		1	SMCP	1	152857174	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	528239	152857174	96393447	9	6562											
USH2A	7399	broad.mit.edu	37	1	215799138	215799138	+	Silent	SNP	T	T	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:215799138T>C	uc001hku.1	-	71	15981	c.15594A>G	c.(15592-15594)acA>acG	p.T5198T		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5198					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GGTGGGTGTCTGTGAATGTGG	0.463										HNSCC(13;0.011)			C	215799138	T	C	215799138	2	2	98	1	0	0	0	0	0	0	0	1	17033	1567	55	4		4	USH2A	1	215799138	Silent	SNP	T	TCGA-06-6388-01A-12D-1845-08	62941964	215799138	33451483	10	6563											
RYR2	6262	broad.mit.edu	37	1	237806746	237806746	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:237806746A>T	uc001hyl.1	+	48	7462	c.7342_splice	c.e48+1	p.D2448_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2448	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			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)			CAATAGCCAAAGGTAAGGCCA	0.438													T	237806746	A	T	237806746	3	4	98	1	0	0	0	0	1	0	0	0	13769	86	3	5	7531	5	RYR2	1	237806746	Missense_Mutation	SNP	A	TCGA-06-6388-01A-12D-1845-08	22007608	237806746	11443875	11	6564											
RAD51AP2	729475	broad.mit.edu	37	2	17692095	17692095	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:17692095G>A	uc002rcl.1	-	2	3480	c.3456C>T	c.(3454-3456)taC>taT	p.Y1152Y	RAD51AP2_uc010exn.1_Silent_p.Y1143Y	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1152	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAAGTTTCCGTAACACATTT	0.338													A	17692095	G	A	17692095	2	1	98	1	0	0	0	0	0	0	0	1	12987	1140	40	1		1	RAD51AP2	2	17692095	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08		17692095	225507278	12	6565											
TMEM17	200728	broad.mit.edu	37	2	62728426	62728426	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:62728426C>T	uc002sbt.2	-	3	855	c.515G>A	c.(514-516)cGt>cAt	p.R172H	TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	Homo sapiens transmembrane protein 17 (TMEM17), mRNA.	172						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GAGGTGGAAACGAACTGCCAA	0.423													T	62728426	C	T	62728426	3	4	98	1	0	0	0	0	1	0	0	0	16082	536	19	1	85	1	TMEM17	2	62728426	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	45036331	62728426	180470947	13	6566											
TGFA	7039	broad.mit.edu	37	2	70683568	70683568	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:70683568C>T	uc002sgs.4	-	3	516	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	TGFA_uc010fdq.3_Missense_Mutation_p.V96M|TGFA_uc010fdr.3_Missense_Mutation_p.V95M|TGFA_uc002sgt.4_Missense_Mutation_p.V89M|TGFA_uc002sgu.3_Missense_Mutation_p.V89M|TGFA_uc002sgv.3_Missense_Mutation_p.V90M|TGFA_uc002sgw.3_Missense_Mutation_p.V89M	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	90					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	p.V90M(2)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GCAGCCACCACGGCCAGGAGG	0.577													T	70683568	C	T	70683568	3	4	98	1	0	0	0	0	1	0	0	0	15812	536	19	1	226	1	TGFA	2	70683568	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	7955142	70683568	172515805	14	6567											
RGPD3	653489	broad.mit.edu	37	2	107040566	107040566	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:107040566T>A	uc010ywi.1	-	19	3914	c.3857A>T	c.(3856-3858)gAt>gTt	p.D1286V		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1286					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGTTGACTCATCAAAGTGGAA	0.408													A	107040566	T	A	107040566	3	1	98	1	0	0	0	0	1	0	0	0	13287	1435	50	5	1435	5	RGPD3	2	107040566	Missense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	36356998	107040566	136158807	15	6568											
MME	4311	broad.mit.edu	37	3	154832945	154832945	+	Splice_Site	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr3:154832945G>A	uc010hvr.1	+	4	569	c.358_splice	c.e4+1	p.D120_splice	MME_uc003fab.1_Splice_Site_p.D120_splice|MME_uc003fac.1_Splice_Site_p.D120_splice|MME_uc003fad.1_Splice_Site_p.D120_splice|MME_uc003fae.1_Splice_Site_p.D120_splice	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	120					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GTTTTGAAAGGTTAGTAGAGA	0.378													A	154832945	G	A	154832945	5	1	98	1	0	0	0	0	0	0	1	0	9645	1275	44	3	369	3	MME	3	154832945	Splice_Site	SNP	G	TCGA-06-6388-01A-12D-1845-08		154832945	43189485	16	6569											
PLD1	5337	broad.mit.edu	37	3	171330189	171330189	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr3:171330189C>G	uc003fhs.3	-	24	3109	c.2762G>C	c.(2761-2763)gGa>gCa	p.G921A	PLD1_uc003fht.3_Missense_Mutation_p.G883A|PLD1_uc003fhu.4_Missense_Mutation_p.G215A	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	921	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.G921*(2)|p.L920L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTCACGCTTTCCCAGCATGCT	0.507													G	171330189	C	G	171330189	3	3	98	1	0	0	0	0	1	0	0	0	12045	855	30	5	474	5	PLD1	3	171330189	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	16497244	171330189	26692241	17	6570											
LPHN3	23284	broad.mit.edu	37	4	62452954	62452954	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:62452954G>A	uc010ihh.3	+	1	238	c.65G>A	c.(64-66)cGt>cAt	p.R22H	LPHN3_uc003hcq.4_Missense_Mutation_p.R22H|LPHN3_uc010ihg.1_Missense_Mutation_p.R90H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	22					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTTTCAGCCGTGCCCCAATT	0.453													A	62452954	G	A	62452954	3	1	98	1	0	0	0	0	1	0	0	0	8917	1145	40	1	71	1	LPHN3	4	62452954	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		62452954	128701322	18	6571											
CXCL1	2919	broad.mit.edu	37	4	74735288	74735288	+	Splice_Site	SNP	G	G	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:74735288G>T	uc003hhh.2	+	1	179	c.100_splice	c.e1+1	p.G34_splice		NM_001511	NP_001502	P09341	GROA_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) (CXCL1), transcript variant 1, mRNA.	34					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGCGCAGCAGGTGGGTACCGG	0.726													T	74735288	G	T	74735288	5	4	98	1	0	0	0	0	0	0	1	0	4077	1275	44	5	103	5	CXCL1	4	74735288	Splice_Site	SNP	G	TCGA-06-6388-01A-12D-1845-08	12282334	74735288	116418988	19	6572											
EPGN	255324	broad.mit.edu	37	4	75174232	75174232	+	Translation_Start_Site	SNP	A	A	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:75174232A>T	uc003hic.1	+	0					BC016361_uc003hhv.1_Intron|EPGN_uc003hhw.3_5'UTR|EPGN_uc003hib.1_5'UTR|EPGN_uc003hhy.1_5'UTR|EPGN_uc003hhz.1_5'UTR|EPGN_uc010iin.1_5'UTR|EPGN_uc003hhx.1_Non-coding_Transcript|EPGN_uc003hia.1_5'UTR			Q6UW88	EPGN_HUMAN	Homo sapiens epithelial mitogen homolog (mouse) (EPGN), mRNA.						activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			AGAGAAAGAAAGTTAAGCAAC	0.363													T	75174232	A	T	75174232	1	4	98	1	0	0	0	0	0	0	0	0	5164	87	3	5		5	EPGN	4	75174232	Translation_Start_Site	SNP	A	TCGA-06-6388-01A-12D-1845-08	438944	75174232	115980044	20	6573											
PDHA2	5161	broad.mit.edu	37	4	96761394	96761394	+	Silent	SNP	C	C	T	rs143281239		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:96761394C>T	uc003htr.4	+	0	156	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	31					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.D31E(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCTCAAATGACGCTACATTTG	0.502													T	96761394	C	T	96761394	2	4	98	1	0	0	0	0	0	0	0	1	11665	535	19	1		1	PDHA2	4	96761394	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	21587162	96761394	94392882	21	6574											
PRMT10	90826	broad.mit.edu	37	4	148591889	148591889	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:148591889G>A	uc003ilc.3	-	4	891	c.749C>T	c.(748-750)tCc>tTc	p.S250F	PRMT10_uc003ild.3_Missense_Mutation_p.S137F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	250						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TACAACTAGGGACACTCTATA	0.328													A	148591889	G	A	148591889	3	1	98	1	0	0	0	0	1	0	0	0	12536	1174	41	3	1820	3	PRMT10	4	148591889	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	51830495	148591889	42562387	22	6575											
PIK3R1	5295	broad.mit.edu	37	5	67592121	67592121	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:67592121T>C	uc003jva.3	+	14	2517	c.1937T>C	c.(1936-1938)tTt>tCt	p.F646S	PIK3R1_uc003jvc.3_Missense_Mutation_p.F346S|PIK3R1_uc003jvd.3_Missense_Mutation_p.F376S|PIK3R1_uc003jve.3_Missense_Mutation_p.F325S|PIK3R1_uc021xzn.1_Missense_Mutation_p.F283S	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	646	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GATGGCACTTTTCTTGTCCGG	0.453			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			C	67592121	T	C	67592121	3	2	98	1	0	0	0	0	1	0	0	0	11918	1841	64	4	2121	4	PIK3R1	5	67592121	Missense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08		67592121	113323139	23	6576											
LNPEP	4012	broad.mit.edu	37	5	96320900	96320900	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:96320900C>T	uc003kmv.1	+	2	1491	c.977C>T	c.(976-978)aCc>aTc	p.T326I	LNPEP_uc003kmw.1_Missense_Mutation_p.T312I	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	326					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAGCAATACACCGCTTTATCA	0.378													T	96320900	C	T	96320900	3	4	98	1	0	0	0	0	1	0	0	0	8864	507	18	3	987	3	LNPEP	5	96320900	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	28728779	96320900	84594360	24	6577											
FAT2	2196	broad.mit.edu	37	5	150925630	150925630	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:150925630G>A	uc003lue.4	-	8	5071	c.5058C>T	c.(5056-5058)agC>agT	p.S1686S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1686	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.M1685V(1)		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)			CTTCAGAGGGGCTCATAGCAG	0.443													A	150925630	G	A	150925630	2	1	98	1	0	0	0	0	0	0	0	1	5690	1194	42	3		3	FAT2	5	150925630	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	54604730	150925630	29989630	25	6578											
ENPP4	22875	broad.mit.edu	37	6	46107513	46107513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr6:46107513G>A	uc003oxy.3	+	1	452	c.193G>A	c.(193-195)Gtt>Att	p.V65I		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	65						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TGTTAAAAATGTTTTTATCAC	0.363													A	46107513	G	A	46107513	3	1	98	1	0	0	0	0	1	0	0	0	5132	1377	48	3	195	3	ENPP4	6	46107513	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		46107513	125007554	26	6579											
KIF25	3834	broad.mit.edu	37	6	168443353	168443353	+	Silent	SNP	G	G	A	rs147561163		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr6:168443353G>A	uc003qwk.1	+	7	1204	c.942G>A	c.(940-942)ccG>ccA	p.P314P	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	314					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.P314P(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCATGCCCCGTACCGGAACA	0.652													A	168443353	G	A	168443353	2	1	98	1	0	0	0	0	0	0	0	1	8293	1132	40	1		1	KIF25	6	168443353	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	122335840	168443353	2671714	27	6580											
SDK1	221935	broad.mit.edu	37	7	4153898	4153898	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr7:4153898G>A	uc003smx.3	+	24	3954	c.3815G>A	c.(3814-3816)cGg>cAg	p.R1272Q	SDK1_uc010kso.3_Missense_Mutation_p.R548Q	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1272					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCGGACGCGGGAGTCAGGT	0.652													A	4153898	G	A	4153898	3	1	98	1	0	0	0	0	1	0	0	0	13968	1116	39	2	3913	2	SDK1	7	4153898	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		4153898	154984765	28	6581											
HGF	3082	broad.mit.edu	37	7	81386513	81386513	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr7:81386513G>A	uc003uhl.3	-	3	639	c.474C>T	c.(472-474)caC>caT	p.H158H	HGF_uc003uhm.3_Silent_p.H158H|HGF_uc003uhn.1_Silent_p.H158H|HGF_uc003uho.1_Silent_p.H158H|HGF_uc003uhp.3_Silent_p.H158H|HGF_uc022agw.1_Silent_p.H158H	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	158	Kringle 1.				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			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						ACCTGTGTTCGTGTGGTATCA	0.393													A	81386513	G	A	81386513	2	1	98	1	0	0	0	0	0	0	0	1	7085	1136	40	1		1	HGF	7	81386513	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	77232615	81386513	77752150	29	6582											
SAMD12	401474	broad.mit.edu	37	8	119452171	119452171	+	Silent	SNP	C	C	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr8:119452171C>G	uc003yom.2	-	2	351	c.222G>C	c.(220-222)gtG>gtC	p.V74V	SAMD12_uc010mda.1_Silent_p.V74V|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	74										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCCATAGAGCCACCGGTTTAG	0.428													G	119452171	C	G	119452171	2	3	98	1	0	0	0	0	0	0	0	1	13817	581	21	5		5	SAMD12	8	119452171	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		119452171	26911851	30	6583											
ADRB1	153	broad.mit.edu	37	10	115804336	115804336	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr10:115804336C>T	uc001lba.3	+	0	531	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	149					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CATCGAGACCCTGTGTGTCAT	0.682													T	115804336	C	T	115804336	2	4	98	1	0	0	0	0	0	0	0	1	340	680	24	3		3	ADRB1	10	115804336	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		115804336	19730411	31	6584											
CD6	923	broad.mit.edu	37	11	60780934	60780934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:60780934G>A	uc001nqq.3	+	6	1415	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	CD6_uc009yni.3_Missense_Mutation_p.R296Q|CD6_uc009ynj.3_Missense_Mutation_p.R274Q|CD6_uc001nqp.3_Missense_Mutation_p.R397Q|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.R397Q|CD6_uc001nqt.3_Missense_Mutation_p.R397Q	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	397					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AAGGAATCTCGGGAGCTAATG	0.443													A	60780934	G	A	60780934	3	1	98	1	0	0	0	0	1	0	0	0	3028	1116	39	2	1216	2	CD6	11	60780934	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		60780934	74225582	32	6585											
PPP2R5B	5526	broad.mit.edu	37	11	64695622	64695622	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:64695622G>T	uc001obz.3	+	3	876	c.583G>T	c.(583-585)Gtc>Ttc	p.V195F	PPP2R5B_uc001oby.3_Missense_Mutation_p.V195F	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	195					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCAAAAGTTTGTCCTGATGGT	0.582													T	64695622	G	T	64695622	3	4	98	1	0	0	0	0	1	0	0	0	12393	1377	48	5	597	5	PPP2R5B	11	64695622	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	3914688	64695622	70310894	33	6586											
SNX32	254122	broad.mit.edu	37	11	65617743	65617744	+	Splice_Site	INS	-	-	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:65617743_65617744insT	uc001ofr.3	+	4	501	c.374_splice	c.e4+1	p.A125_splice	SNX32_uc010rop.1_3'UTR	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	125	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGCTGGAAGCGTGAGTGCCCCC	0.554													T	65617744	-	T	65617743	8	5	98	1	0	1	1	0	0	0	1	0	14902	1159	40	0	389	0	SNX32	11	65617743	Splice_Site	INS	-	TCGA-06-6388-01A-12D-1845-08	922121	65617743	69388773	34	6587											
CABP4	57010	broad.mit.edu	37	11	67222962	67222962	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:67222962C>T	uc001olo.3	+	0	145	c.68C>T	c.(67-69)gCg>gTg	p.A23V	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	23					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCCCCCTGCGGGGGTTGTG	0.632													T	67222962	C	T	67222962	3	4	98	1	0	0	0	0	1	0	0	0	2533	768	27	1	70	1	CABP4	11	67222962	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	1605219	67222962	67783554	35	6588											
AMOTL1	154810	broad.mit.edu	37	11	94554698	94554698	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:94554698G>A	uc001pfb.3	+	3	1294	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AMOTL1_uc001pfc.3_Missense_Mutation_p.R325H	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	375						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTTGCAGCCGCCCATGCCAA	0.602													A	94554698	G	A	94554698	3	1	98	1	0	0	0	0	1	0	0	0	583	1087	38	1	1138	1	AMOTL1	11	94554698	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	27331736	94554698	40451818	36	6589											
IL26	55801	broad.mit.edu	37	12	68619233	68619233	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr12:68619233C>G	uc001stx.1	-	1	254	c.219G>C	c.(217-219)aaG>aaC	p.K73N		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	73					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CCATAAACTGCTTTTTTGTTT	0.274													G	68619233	C	G	68619233	3	3	98	1	0	0	0	0	1	0	0	0	7679	796	28	5	312	5	IL26	12	68619233	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		68619233	65232662	37	6590											
RCBTB1	55213	broad.mit.edu	37	13	50140816	50140816	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr13:50140816C>T	uc001vde.1	-	3	476	c.215G>A	c.(214-216)tGt>tAt	p.C72Y		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	72					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CTTCTTTCCACATAAGCCTTC	0.408													T	50140816	C	T	50140816	3	4	98	1	0	0	0	0	1	0	0	0	13171	478	17	3	1420	3	RCBTB1	13	50140816	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		50140816	65029062	38	6591											
ABCC4	10257	broad.mit.edu	37	13	95715080	95715080	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr13:95715080T>C	uc001vmd.4	-	25	3363	c.3244A>G	c.(3244-3246)Agt>Ggt	p.S1082G	ABCC4_uc010afj.3_5'UTR|ABCC4_uc010afk.3_Missense_Mutation_p.S1035G	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1082	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ATGAGGGAACTTTTTCCAGCT	0.398													C	95715080	T	C	95715080	3	2	98	1	0	0	0	0	1	0	0	0	55	1609	56	4	757	4	ABCC4	13	95715080	Missense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	45574264	95715080	19454798	39	6592											
RYR3	6263	broad.mit.edu	37	15	33873724	33873724	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:33873724G>T	uc001zhi.3	+	13	1523	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	RYR3_uc010bar.3_Missense_Mutation_p.V485F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	485					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)		GTTGGCCCTTGTCTTAAATTG	0.438													T	33873724	G	T	33873724	3	4	98	1	0	0	0	0	1	0	0	0	13770	1377	48	5	1507	5	RYR3	15	33873724	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		33873724	68657668	40	6593											
SLTM	79811	broad.mit.edu	37	15	59181723	59181723	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:59181723G>C	uc002afp.3	-	15	2198	c.2110C>G	c.(2110-2112)Cga>Gga	p.R704G	SLTM_uc002afn.3_Missense_Mutation_p.R246G|SLTM_uc002afo.3_Missense_Mutation_p.R686G|SLTM_uc002afq.3_Missense_Mutation_p.R273G|SLTM_uc010bgd.3_Missense_Mutation_p.R273G	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	704	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTCTTTCTCGAGCAATCCGT	0.413													C	59181723	G	C	59181723	3	2	98	1	0	0	0	0	1	0	0	0	14754	1066	37	5	1018	5	SLTM	15	59181723	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	25307999	59181723	43349669	41	6594											
CYP1A2	1544	broad.mit.edu	37	15	75042328	75042328	+	Silent	SNP	G	G	A	rs17861153	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:75042328G>A	uc002ayr.1	+	1	313	c.249G>A	c.(247-249)acG>acA	p.T83T		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	83			T -> M (in allele CYP1A2*9).		alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.T83T(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TTGGCTCCACGCCCGTGCTGG	0.667													A	75042328	G	A	75042328	2	1	98	1	0	0	0	0	0	0	0	1	4150	1074	38	1		1	CYP1A2	15	75042328	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	15860605	75042328	27489064	42	6595											
IL4R	3566	broad.mit.edu	37	16	27374339	27374339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr16:27374339C>T	uc002don.3	+	10	1908	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*	IL4R_uc002dop.4_Nonsense_Mutation_p.R541*|IL4R_uc010bxy.3_Nonsense_Mutation_p.R556*|IL4R_uc002doo.3_Nonsense_Mutation_p.R396*	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	556	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GATCCTCCGCCGAAATGTCCT	0.637													T	27374339	C	T	27374339	4	4	98	1	0	0	0	0	0	1	0	0	7698	644	23	2	1718	2	IL4R	16	27374339	Nonsense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		27374339	62980414	43	6596											
IRX6	79190	broad.mit.edu	37	16	55361572	55361572	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr16:55361572C>T	uc002ehy.3	+	3	1021	c.488C>T	c.(487-489)gCc>gTc	p.A163V	IRX6_uc002ehx.3_Missense_Mutation_p.A163V|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						ACACTCAAGGCCTGGCTCAAC	0.592													T	55361572	C	T	55361572	3	4	98	1	0	0	0	0	1	0	0	0	7848	739	26	3	502	3	IRX6	16	55361572	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	27987233	55361572	34993181	44	6597											
SOX9	6662	broad.mit.edu	37	17	70118954	70118954	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr17:70118954C>T	uc002jiw.3	+	1	898	c.526C>T	c.(526-528)Ccg>Tcg	p.P176S	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	176					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAAGTACCAGCCGCGGCGGAG	0.652													T	70118954	C	T	70118954	3	4	98	1	0	0	0	0	1	0	0	0	14958	739	26	3	532	3	SOX9	17	70118954	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		70118954	11076256	45	6598											
OTOP3	347741	broad.mit.edu	37	17	72943010	72943010	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr17:72943010G>A	uc010wrr.2	+	5	1060	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	OTOP3_uc010wrq.2_Missense_Mutation_p.V336I	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	354						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGTGTGTGCGTCTTTGTGCT	0.627													A	72943010	G	A	72943010	3	1	98	1	0	0	0	0	1	0	0	0	11307	1145	40	1	1082	1	OTOP3	17	72943010	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	2824056	72943010	8252200	46	6599											
EPB41L3	23136	broad.mit.edu	37	18	5395093	5395093	+	Silent	SNP	C	C	A	rs144676596		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr18:5395093C>A	uc002kmt.1	-	20	3212	c.3126G>T	c.(3124-3126)acG>acT	p.T1042T	EPB41L3_uc010wzh.1_Silent_p.T873T|EPB41L3_uc002kmu.1_Silent_p.T820T|EPB41L3_uc010dkq.1_Silent_p.T711T|EPB41L3_uc002kms.1_Silent_p.T277T|EPB41L3_uc010wze.1_Silent_p.T347T|EPB41L3_uc010wzf.1_Silent_p.T339T|EPB41L3_uc010wzg.1_Silent_p.T314T|EPB41L3_uc010dkr.2_Silent_p.T434T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1042	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.T1042T(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGCATCCCCCGTGATGACTA	0.448													A	5395093	C	A	5395093	2	1	98	1	0	0	0	0	0	0	0	1	5154	639	23	5		5	EPB41L3	18	5395093	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		5395093	72682155	47	6600											
FBXO15	201456	broad.mit.edu	37	18	71791770	71791770	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr18:71791770G>C	uc002llf.2	-	6	1029	c.949C>G	c.(949-951)Cat>Gat	p.H317D	FBXO15_uc002lle.2_Missense_Mutation_p.H241D	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	241										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGATGAAAATGAAGATTTGCC	0.328													C	71791770	G	C	71791770	3	2	98	1	0	0	0	0	1	0	0	0	5728	1290	45	5	599	5	FBXO15	18	71791770	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	66396677	71791770	6285478	48	6601											
FUT5	2527	broad.mit.edu	37	19	5867028	5867028	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:5867028G>A	uc002mdo.4	-	1	880	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	FUT5_uc010duo.3_Missense_Mutation_p.R237C|FUT5_uc021uno.1_Missense_Mutation_p.R237C	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	237					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TTGTGGGAGCGTCCGTACACG	0.622													A	5867028	G	A	5867028	3	1	98	1	0	0	0	0	1	0	0	0	6107	1145	40	1	419	1	FUT5	19	5867028	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		5867028	53261955	49	6602											
MUC16	94025	broad.mit.edu	37	19	9091524	9091524	+	Silent	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:9091524G>A	uc002mkp.3	-	0	495	c.291C>T	c.(289-291)tcC>tcT	p.S97S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	97	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						TTCTTTGCTCGGAGTGTGTCA	0.537													A	9091524	G	A	9091524	2	1	98	1	0	0	0	0	0	0	0	1	9973	1103	39	2		2	MUC16	19	9091524	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	3224496	9091524	50037459	50	6603											
LYPD4	147719	broad.mit.edu	37	19	42342222	42342222	+	Missense_Mutation	SNP	C	C	T	rs142442476	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:42342222C>T	uc002orp.1	-	3	1309	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	LYPD4_uc002orq.1_Missense_Mutation_p.V74I	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	109						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GACCGGCAGACGCGACTGTAG	0.522													T	42342222	C	T	42342222	3	4	98	1	0	0	0	0	1	0	0	0	9112	536	19	1	423	1	LYPD4	19	42342222	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	33250698	42342222	16786761	51	6604											
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:43576027C>T	uc002ovr.3	-	3	961	c.789G>A	c.(787-789)gcG>gcA	p.A263A	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263A(2)|p.A263V(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)				GGTTAGAGTTCGCGAAGCAAG	0.443													T	43576027	C	T	43576027	2	4	98	1	0	0	0	0	0	0	0	1	12655	871	31	2		2	PSG2	19	43576027	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	1233805	43576027	15552956	52	6605											
PSG4	5672	broad.mit.edu	37	19	43708378	43708378	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:43708378C>T	uc002ovy.3	-	1	192	c.90G>A	c.(88-90)ccG>ccA	p.P30P	PSG4_uc002ovz.3_Silent_p.P30P|PSG4_uc002owb.3_Silent_p.P30P	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	30					defense response|female pregnancy	extracellular region		p.P30P(3)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CAGTTGTGGGCGGATTCCAGA	0.468													T	43708378	C	T	43708378	2	4	98	1	0	0	0	0	0	0	0	1	12657	755	27	1		1	PSG4	19	43708378	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	132351	43708378	15420605	53	6606											
NLRP4	147945	broad.mit.edu	37	19	56370207	56370207	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:56370207T>A	uc002qmd.4	+	2	1870	c.1448T>A	c.(1447-1449)tTg>tAg	p.L483*	NLRP4_uc002qmf.3_Nonsense_Mutation_p.L408*|NLRP4_uc010etf.3_Nonsense_Mutation_p.L314*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	483							ATP binding	p.E482K(1)|p.L483F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTACAGGAATTGCTAGTTGCC	0.423													A	56370207	T	A	56370207	4	1	98	1	0	0	0	0	0	1	0	0	10479	1821	63	5	1454	5	NLRP4	19	56370207	Nonsense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	12661829	56370207	2758776	54	6607											
JAG1	182	broad.mit.edu	37	20	10644609	10644612	+	Splice_Site	DEL	ACGA	ACGA	-			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:10644609_10644612delACGA	uc002wnw.2	-	3	955	c.439_splice	c.e3+1	p.Q147_splice		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	147					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGCGATACTTACGAACGGTGTCAT	0.466									Alagille Syndrome				-	10644612	ACGA	-	10644609	8	5	98	1	0	1	0	1	0	0	1	0	7934	405	14	0	3311	0	JAG1	20	10644609	Splice_Site	DEL	ACGA	TCGA-06-6388-01A-12D-1845-08		10644609	52380911	55	6608											
RALGAPA2	57186	broad.mit.edu	37	20	20493785	20493785	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:20493785G>A	uc002wrz.3	-	31	4371	c.4228C>T	c.(4228-4230)Cat>Tat	p.H1410Y	RALGAPA2_uc002wry.3_Missense_Mutation_p.H1025Y|RALGAPA2_uc010zsg.2_Missense_Mutation_p.H858Y|RALGAPA2_uc002wsa.1_Missense_Mutation_p.H182Y	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1410					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCTTCCACATGGGCATTGTCA	0.547													A	20493785	G	A	20493785	3	1	98	1	0	0	0	0	1	0	0	0	13014	1348	47	3	1425	3	RALGAPA2	20	20493785	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	9849176	20493785	42531735	56	6609											
MYH7B	57644	broad.mit.edu	37	20	33584258	33584258	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:33584258A>G	uc002xbi.2	+	28	3496	c.3179A>G	c.(3178-3180)cAg>cGg	p.Q1060R		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1018						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGTGACCTGCAGGCCGAGGAG	0.672													G	33584258	A	G	33584258	3	3	98	1	0	0	0	0	1	0	0	0	10040	188	7	4	3285	4	MYH7B	20	33584258	Missense_Mutation	SNP	A	TCGA-06-6388-01A-12D-1845-08	13090473	33584258	29441262	57	6610											
NPBWR2	2832	broad.mit.edu	37	20	62737704	62737704	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:62737704G>A	uc011abt.2	-	0	481	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	161						plasma membrane	opioid receptor activity|protein binding	p.R161W(2)|p.R161Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TTCGCCCCCCGGTAGGTGCGC	0.632													A	62737704	G	A	62737704	3	1	98	1	0	0	0	0	1	0	0	0	10569	1115	39	2	523	2	NPBWR2	20	62737704	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	29153446	62737704	287816	58	6611											
WWC3	55841	broad.mit.edu	37	X	10106937	10106937	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:10106937C>T	uc004csx.4	+	20	3243	c.3045C>T	c.(3043-3045)gaC>gaT	p.D1015D	WWC3_uc010nds.3_Silent_p.D679D|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	1015										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGCTTCGGGACGAGCGGCTCC	0.711													T	10106937	C	T	10106937	2	4	98	1	0	0	0	0	0	0	0	1	17410	535	19	1		1	WWC3	23	10106937	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		10106937	145163623	59	6612											
MAGED2	10916	broad.mit.edu	37	X	54841851	54841851	+	Silent	SNP	C	C	T			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:54841851C>T	uc004dtk.1	+	11	1651	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	MAGED2_uc004dtl.1_Silent_p.D519D|MAGED2_uc004dtm.1_Silent_p.D434D|MAGED2_uc004dtn.1_Silent_p.D519D|MAGED2_uc004dto.1_Silent_p.D493D	NM_177433	NP_957516	Q9UNF1	MAGD2_HUMAN	Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.	519										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GCAACTGGGACGAAGCTGATA	0.617													T	54841851	C	T	54841851	2	4	98	1	0	0	0	0	0	0	0	1	9184	535	19	1		1	MAGED2	23	54841851	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	44734914	54841851	100428709	60	6613											
NLGN3	54413	broad.mit.edu	37	X	70368006	70368006	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:70368006A>G	uc004dzd.2	+	1	741	c.407A>G	c.(406-408)gAg>gGg	p.E136G	NLGN3_uc004dzb.3_Missense_Mutation_p.E136G|NLGN3_uc011mps.2_Missense_Mutation_p.E136G|NLGN3_uc004dzc.3_Missense_Mutation_p.E19G|NLGN3_uc011mpr.1_Missense_Mutation_p.E136G	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	136					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TACATCCAGGAGCCCAACGAA	0.612													G	70368006	A	G	70368006	3	3	98	1	0	0	0	0	1	0	0	0	10463	304	11	4	409	4	NLGN3	23	70368006	Missense_Mutation	SNP	A	TCGA-06-6388-01A-12D-1845-08	15526155	70368006	84902554	61	6614											
ATRX	546	broad.mit.edu	37	X	76937694	76937694	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:76937694C>A	uc004ecp.4	-	8	3286	c.3054G>T	c.(3052-3054)aaG>aaT	p.K1018N	ATRX_uc004ecq.4_Missense_Mutation_p.K980N|ATRX_uc004eco.4_Missense_Mutation_p.K803N|ATRX_uc004ecr.2_Missense_Mutation_p.K950N|ATRX_uc010nlx.1_Missense_Mutation_p.K989N|ATRX_uc010nly.1_Missense_Mutation_p.K963N	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1018					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCTCAGGTAACTTTTCAGTGC	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76937694	C	A	76937694	3	1	98	1	0	0	0	0	1	0	0	0	1208	564	20	5	4532	5	ATRX	23	76937694	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	6569688	76937694	78332866	62	6615											
STAG2	10735	broad.mit.edu	37	X	123205085	123205085	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:123205085T>A	uc004eua.3	+	24	2849	c.2445T>A	c.(2443-2445)taT>taA	p.Y815*	STAG2_uc004etz.4_Nonsense_Mutation_p.Y815*|STAG2_uc004eub.3_Nonsense_Mutation_p.Y815*|STAG2_uc004euc.3_Nonsense_Mutation_p.Y815*|STAG2_uc004eud.3_Nonsense_Mutation_p.Y815*|STAG2_uc004eue.3_Nonsense_Mutation_p.Y815*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	815					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATTAGTGTATACCCCTGATT	0.363													A	123205085	T	A	123205085	4	1	98	1	0	0	0	0	0	1	0	0	15242	1413	49	5	2535	5	STAG2	23	123205085	Nonsense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	46267391	123205085	32065475	63	6616											
C1orf172	126695	broad.mit.edu	37	1	27278819	27278819	+	Missense_Mutation	SNP	G	G	A	rs145806681	byFrequency	TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:27278819G>A	uc001bni.2	-	1	146	c.53C>T	c.(52-54)cCg>cTg	p.P18L	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	18	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCTCCCACGGTCCCAAGCG	0.652													A	27278819	G	A	27278819	3	1	99	1	0	0	0	0	1	0	0	0	2013	1116	39	2	1155	2	C1orf172	1	27278819	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		27278819	221971802	1	6617											
AHDC1	27245	broad.mit.edu	37	1	27876436	27876436	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:27876436C>A	uc021ojw.1	-	0	2191	c.2191G>T	c.(2191-2193)Gta>Tta	p.V731L	AHDC1_uc009vsy.3_Missense_Mutation_p.V731L|AHDC1_uc009vsz.1_Missense_Mutation_p.V731L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	731	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ACAGCGTCTACCTCCCCCCGG	0.662													A	27876436	C	A	27876436	3	1	99	1	0	0	0	0	1	0	0	0	412	507	18	5	2624	5	AHDC1	1	27876436	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	597617	27876436	221374185	2	6618											
LAMC2	3918	broad.mit.edu	37	1	183177131	183177131	+	Silent	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:183177131C>T	uc001gqa.2	+	1	509	c.195C>T	c.(193-195)tgC>tgT	p.C65C	LAMC2_uc001gpz.4_Silent_p.C65C|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	65	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCATTCACTGCGAGAAGTGCA	0.493													T	183177131	C	T	183177131	2	4	99	1	0	0	0	0	0	0	0	1	8615	776	27	1		1	LAMC2	1	183177131	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	155300695	183177131	66073490	3	6619											
NEK2	4751	broad.mit.edu	37	1	211836944	211836944	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:211836944C>T	uc001hir.2	-	7	1313	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	NEK2_uc021piq.1_Intron|NEK2_uc021pir.1_Missense_Mutation_p.G130R	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	388	Interaction with PCNT.|Necessary for interaction with MAD1L1.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTACTTTCCCCACTGAAATGA	0.403													T	211836944	C	T	211836944	3	4	99	1	0	0	0	0	1	0	0	0	10324	594	21	3	179	3	NEK2	1	211836944	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	28659813	211836944	37413677	4	6620											
OR2W5	441932	broad.mit.edu	37	1	247655038	247655038	+	Silent	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:247655038G>A	uc001icz.2	+	0	669	c.609G>A	c.(607-609)ggG>ggA	p.G203G		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTTGCCCTGGGGGTGGCTCTC	0.572													A	247655038	G	A	247655038	2	1	99	1	0	0	0	0	0	0	0	1	11034	1219	43	3		3	OR2W5	1	247655038	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	35818094	247655038	1595583	5	6621											
OR2L2	26246	broad.mit.edu	37	1	248202130	248202130	+	Silent	SNP	C	C	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:248202130C>G	uc001idw.3	+	0	657	c.561C>G	c.(559-561)gcC>gcG	p.A187A	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			TGACGCTAGCCTGCACAGACA	0.458													G	248202130	C	G	248202130	2	3	99	1	0	0	0	0	0	0	0	1	11007	668	24	5		5	OR2L2	1	248202130	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	547092	248202130	1048491	6	6622											
IFT172	26160	broad.mit.edu	37	2	27669199	27669200	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:27669199_27669200delAG	uc002rku.3	-	42	4733_4734	c.4682_4683delCT	c.(4681-4683)tctfs	p.S1561fs	KRTCAP3_uc021vfd.1_3'UTR|IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1561					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGAGTGAAACAGAAAGCCTGGC	0.505													-	27669200	AG	-	27669199	7	5	99	1	0	1	0	1	0	0	0	0	7557	175	7	0	590	0	IFT172	2	27669199	Frame_Shift_Del	DEL	AG	TCGA-06-6389-01A-11D-1696-08		27669199	215530174	7	6623											
FABP1	2168	broad.mit.edu	37	2	88425819	88425819	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:88425819G>A	uc002sst.2	-	1	230	c.116C>T	c.(115-117)tCg>tTg	p.S39L		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	39					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CACGATTTCCGACACCCCCTT	0.527													A	88425819	G	A	88425819	3	1	99	1	0	0	0	0	1	0	0	0	5355	1059	37	2	279	2	FABP1	2	88425819	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	60756620	88425819	154773554	8	6624											
NCAPH	23397	broad.mit.edu	37	2	97007486	97007486	+	Silent	SNP	G	G	A	rs139287054		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:97007486G>A	uc002svz.1	+	1	210	c.126G>A	c.(124-126)gcG>gcA	p.A42A	NCAPH_uc010fhu.1_Silent_p.A18A|NCAPH_uc010fhv.1_Silent_p.A31A|NCAPH_uc010yum.1_Silent_p.A18A|NCAPH_uc010yun.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	42					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGGAAGGCGCCTCTCAATA	0.582													A	97007486	G	A	97007486	2	1	99	1	0	0	0	0	0	0	0	1	10209	1074	38	1		1	NCAPH	2	97007486	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	8581667	97007486	146191887	9	6625											
INHBB	3625	broad.mit.edu	37	2	121107075	121107075	+	Silent	SNP	C	C	T	rs61737548	byFrequency	TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:121107075C>T	uc002tmn.2	+	1	895	c.849C>T	c.(847-849)ggC>ggT	p.G283G		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	283					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.G283G(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCGGCTGGGCGACAGCAGGC	0.642													T	121107075	C	T	121107075	2	4	99	1	0	0	0	0	0	0	0	1	7742	755	27	1		1	INHBB	2	121107075	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	24099589	121107075	122092298	10	6626											
KCNH7	90134	broad.mit.edu	37	2	163302846	163302846	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:163302846C>G	uc002uch.2	-	6	1465	c.1236G>C	c.(1234-1236)tgG>tgC	p.W412C	KCNH7_uc002uci.3_Missense_Mutation_p.W405C	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	412					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCAGGATAAGCCAGTCCCAGA	0.458													G	163302846	C	G	163302846	3	3	99	1	0	0	0	0	1	0	0	0	8037	740	26	5	2460	5	KCNH7	2	163302846	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	42195771	163302846	79896527	11	6627											
XIRP2	129446	broad.mit.edu	37	2	168103799	168103799	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:168103799A>G	uc002udx.3	+	8	5986	c.5897A>G	c.(5896-5898)cAg>cGg	p.Q1966R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.Q1791R|XIRP2_uc010fpq.3_Missense_Mutation_p.Q1744R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1791					actin cytoskeleton organization	cell junction	actin binding			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						GATATTCATCAGGTTGCTGTC	0.448													G	168103799	A	G	168103799	3	3	99	1	0	0	0	0	1	0	0	0	17427	188	7	4	5927	4	XIRP2	2	168103799	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08	4800953	168103799	75095574	12	6628											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	99	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	41009313	209113112	34086261	13	6629											
KIF9	64147	broad.mit.edu	37	3	47284680	47284680	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:47284680A>G	uc010hjp.3	-	16	2174	c.1570T>C	c.(1570-1572)Tac>Cac	p.Y524H	KIF9_uc003cqx.3_Missense_Mutation_p.Y524H|KIF9_uc003cqy.3_Intron|KIF9_uc011bat.1_Intron|FLJ39534_uc003cqw.2_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	524					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGGAAACGTAATCCAAGTCC	0.557													G	47284680	A	G	47284680	3	3	99	1	0	0	0	0	1	0	0	0	8310	362	13	4	826	4	KIF9	3	47284680	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08		47284680	150737750	14	6630											
CACNA2D2	9254	broad.mit.edu	37	3	50405101	50405101	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:50405101C>T	uc003daq.3	-	26	2328	c.2290G>A	c.(2290-2292)Ggt>Agt	p.G764S	CACNA2D2_uc003dap.3_Missense_Mutation_p.G757S	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	764					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GTGATGCCACCGTCTGTGGCA	0.642													T	50405101	C	T	50405101	3	4	99	1	0	0	0	0	1	0	0	0	2549	652	23	2	1220	2	CACNA2D2	3	50405101	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	3120421	50405101	147617329	15	6631											
HPS3	84343	broad.mit.edu	37	3	148877986	148877986	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:148877986G>C	uc003ewu.1	+	10	2166	c.2026G>C	c.(2026-2028)Gtg>Ctg	p.V676L	HPS3_uc011bnq.1_Missense_Mutation_p.V511L|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	676						cytoplasm				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)			ATCGATCTTAGTGACATTGAC	0.438									Hermansky-Pudlak syndrome				C	148877986	G	C	148877986	3	2	99	1	0	0	0	0	1	0	0	0	7340	1029	36	5	2068	5	HPS3	3	148877986	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	98472885	148877986	49144444	16	6632											
IL7R	3575	broad.mit.edu	37	5	35871249	35871249	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:35871249G>C	uc003jjs.3	+	3	560	c.471G>C	c.(469-471)aaG>aaC	p.K157N	IL7R_uc011coo.2_Missense_Mutation_p.K157N|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	157	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTGCAAAAGAAGTATGTAA	0.378			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						C	35871249	G	C	35871249	3	2	99	1	0	0	0	0	1	0	0	0	7705	933	33	5	485	5	IL7R	5	35871249	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		35871249	145044011	17	6633											
PLCXD3	345557	broad.mit.edu	37	5	41382006	41382006	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:41382006G>T	uc003jmm.1	-	1	836	c.734C>A	c.(733-735)tCt>tAt	p.S245Y		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	245					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACCACCTGAGATATAAAAAA	0.483													T	41382006	G	T	41382006	3	4	99	1	0	0	0	0	1	0	0	0	12043	942	33	5	239	5	PLCXD3	5	41382006	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	5510757	41382006	139533254	18	6634											
IL17B	27190	broad.mit.edu	37	5	148754111	148754111	+	Silent	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:148754111G>A	uc003lqo.3	-	2	414	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	122					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGACACAGGCACCGTGCC	0.647													A	148754111	G	A	148754111	2	1	99	1	0	0	0	0	0	0	0	1	7635	991	35	3		3	IL17B	5	148754111	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	107372105	148754111	32161149	19	6635											
EHMT2	10919	broad.mit.edu	37	6	31847948	31847948	+	Silent	SNP	A	A	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr6:31847948A>T	uc003nxz.1	-	27	3556	c.3546T>A	c.(3544-3546)atT>atA	p.I1182I	EHMT2_uc003nxx.1_Silent_p.I380I|EHMT2_uc003nxy.1_Silent_p.I980I|EHMT2_uc011don.1_Silent_p.I1205I|EHMT2_uc003nya.1_Silent_p.I1148I|SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	1182					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCTCCAGGGCAATGGCTTCGG	0.592													T	31847948	A	T	31847948	2	4	99	1	0	0	0	0	0	0	0	1	4984	126	5	5		5	EHMT2	6	31847948	Silent	SNP	A	TCGA-06-6389-01A-11D-1696-08		31847948	139267119	20	6636											
AMD1	262	broad.mit.edu	37	6	111214026	111214026	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr6:111214026C>T	uc003puk.1	+	6	1026	c.704C>T	c.(703-705)tCg>tTg	p.S235L	AMD1_uc011eay.1_Missense_Mutation_p.S166L|AMD1_uc003pul.1_Missense_Mutation_p.S87L|AMD1_uc011eaz.1_Missense_Mutation_p.S206L|AMD1_uc011eba.1_Missense_Mutation_p.S115L	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	235					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GGAATGAAATCGGATGTGAGT	0.388													T	111214026	C	T	111214026	3	4	99	1	0	0	0	0	1	0	0	0	566	893	31	2	730	2	AMD1	6	111214026	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	79366078	111214026	59901041	21	6637											
RNF148	378925	broad.mit.edu	37	7	122342705	122342705	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr7:122342705C>T	uc003vkk.1	-	0	317	c.100G>A	c.(100-102)Gga>Aga	p.G34R	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	34						integral to membrane	zinc ion binding	p.N33N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATGGCTTTTCCGTTTGAGTCA	0.423													T	122342705	C	T	122342705	3	4	99	1	0	0	0	0	1	0	0	0	13449	661	23	2	821	2	RNF148	7	122342705	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08		122342705	36795958	22	6638											
TEX15	56154	broad.mit.edu	37	8	30705338	30705338	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:30705338A>T	uc003xil.3	-	0	1196	c.1196T>A	c.(1195-1197)gTt>gAt	p.V399D		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	399										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)		AGATGAAATAACTGTATCAAT	0.333													T	30705338	A	T	30705338	3	4	99	1	0	0	0	0	1	0	0	0	15776	43	2	5	7189	5	TEX15	8	30705338	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08		30705338	115658684	23	6639											
SYBU	55638	broad.mit.edu	37	8	110587269	110587269	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:110587269G>A	uc010mcp.3	-	7	2220	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	SYBU_uc003yni.4_Missense_Mutation_p.P617S|SYBU_uc003ynk.4_Missense_Mutation_p.P501S|SYBU_uc003ynj.4_Missense_Mutation_p.P620S|SYBU_uc010mco.3_Missense_Mutation_p.P619S|SYBU_uc003ynl.4_Missense_Mutation_p.P619S|SYBU_uc010mcq.3_Missense_Mutation_p.P620S|SYBU_uc003yno.4_Missense_Mutation_p.P501S|SYBU_uc010mcr.3_Missense_Mutation_p.P620S|SYBU_uc003ynm.4_Missense_Mutation_p.P619S|SYBU_uc003ynn.4_Missense_Mutation_p.P619S|SYBU_uc010mcs.3_Missense_Mutation_p.P501S|SYBU_uc010mct.3_Missense_Mutation_p.P620S|SYBU_uc010mcu.3_Missense_Mutation_p.P619S|SYBU_uc003ynp.4_Missense_Mutation_p.P552S|SYBU_uc010mcv.3_Missense_Mutation_p.P620S|SYBU_uc003ynh.4_Missense_Mutation_p.P414S|SYBU_uc011lhw.2_Missense_Mutation_p.P490S	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	620						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGAACCGTGGGGACCACGGGG	0.622													A	110587269	G	A	110587269	3	1	99	1	0	0	0	0	1	0	0	0	15424	1232	43	3	137	3	SYBU	8	110587269	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	79881931	110587269	35776753	24	6640											
HAS2	3037	broad.mit.edu	37	8	122641322	122641322	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:122641322G>A	uc003yph.2	-	1	797	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	87						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GCGATGCAAAGGGCAACTGTT	0.423													A	122641322	G	A	122641322	3	1	99	1	0	0	0	0	1	0	0	0	6962	1000	35	3	1411	3	HAS2	8	122641322	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	12054053	122641322	23722700	25	6641											
C9orf152	401546	broad.mit.edu	37	9	112963591	112963591	+	Silent	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr9:112963591C>T	uc011lwk.2	-	1	911	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587													T	112963591	C	T	112963591	2	4	99	1	0	0	0	0	0	0	0	1	2463	755	27	1		1	C9orf152	9	112963591	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08		112963591	28249840	26	6642											
FCN1	2219	broad.mit.edu	37	9	137801822	137801822	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr9:137801822G>A	uc004cfi.3	-	8	892	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	268	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AGCACAATTCGAAGAACTCAC	0.488													A	137801822	G	A	137801822	3	1	99	1	0	0	0	0	1	0	0	0	5791	1059	37	2	181	2	FCN1	9	137801822	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	24838231	137801822	3411609	27	6643											
CDH23	64072	broad.mit.edu	37	10	73544851	73544851	+	Silent	SNP	T	T	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr10:73544851T>C	uc001jrx.4	+	40	6087	c.5697T>C	c.(5695-5697)aaT>aaC	p.N1899N		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1902	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTTCATCAATGCCACGGTAG	0.597													C	73544851	T	C	73544851	2	2	99	1	0	0	0	0	0	0	0	1	3108	1461	51	4		4	CDH23	10	73544851	Silent	SNP	T	TCGA-06-6389-01A-11D-1696-08		73544851	61989896	28	6644											
RGR	5995	broad.mit.edu	37	10	86017694	86017694	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr10:86017694C>T	uc001kdd.1	+	5	726	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	RGR_uc001kdc.1_Missense_Mutation_p.P226S|RGR_uc001kde.1_Intron	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	226					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CGGCTGGGGCCCCTATGCCAT	0.542													T	86017694	C	T	86017694	3	4	99	1	0	0	0	0	1	0	0	0	13291	623	22	3	710	3	RGR	10	86017694	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	12472843	86017694	49517053	29	6645											
ABCC9	10060	broad.mit.edu	37	12	21968799	21968799	+	Silent	SNP	T	T	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr12:21968799T>G	uc001rfh.3	-	31	3941	c.3921A>C	c.(3919-3921)ccA>ccC	p.P1307P	ABCC9_uc001rfi.1_Silent_p.P1307P	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1307					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			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)	CCCCTTCTTGTGGCCAATGTT	0.393													G	21968799	T	G	21968799	2	3	99	1	0	0	0	0	0	0	0	1	59	1683	59	5		5	ABCC9	12	21968799	Silent	SNP	T	TCGA-06-6389-01A-11D-1696-08		21968799	111883096	30	6646											
CYP1A2	1544	broad.mit.edu	37	15	75042134	75042134	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr15:75042134G>A	uc002ayr.1	+	1	119	c.55G>A	c.(55-57)Gcc>Acc	p.A19T		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	19					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCTGGCCTCTGCCATCTTCTG	0.587													A	75042134	G	A	75042134	3	1	99	1	0	0	0	0	1	0	0	0	4150	1319	46	3	57	3	CYP1A2	15	75042134	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		75042134	27489258	31	6647											
DNAH3	55567	broad.mit.edu	37	16	21080790	21080790	+	Silent	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:21080790C>T	uc010vbe.2	-	22	3327	c.3327G>A	c.(3325-3327)gaG>gaA	p.E1109E		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1109	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTTCCTCCCCTCTTCTGGCA	0.428													T	21080790	C	T	21080790	2	4	99	1	0	0	0	0	0	0	0	1	4603	680	24	3		3	DNAH3	16	21080790	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08		21080790	69273963	32	6648											
HYDIN	54768	broad.mit.edu	37	16	70977832	70977832	+	Silent	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:70977832G>A	uc002ezr.3	-	41	6700	c.6549C>T	c.(6547-6549)ccC>ccT	p.P2183P		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2184										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGGCCCCGGGGGGAGAGGGC	0.582													A	70977832	G	A	70977832	2	1	99	1	0	0	0	0	0	0	0	1	7467	1219	43	3		3	HYDIN	16	70977832	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	49897042	70977832	19376921	33	6649											
C16orf3	750	broad.mit.edu	37	16	90095609	90095609	+	Missense_Mutation	SNP	C	C	T	rs76322535		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:90095609C>T	uc002fqk.1	-	0	701	c.142G>A	c.(142-144)Gta>Ata	p.V48I	GAS8_uc010vps.1_Intron|GAS8_uc002fqh.2_Intron|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Intron|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Intron|GAS8_uc002fqi.1_Intron|GAS8_uc010vpw.1_Intron|GAS8_uc002fqj.1_Intron	NM_001214	NP_001205	O95177	CP003_HUMAN	Homo sapiens chromosome 16 open reading frame 3 (C16orf3), mRNA.	48			Missing (in short isoform).							large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		gggcagcctacggggcaggct	0.672													T	90095609	C	T	90095609	3	4	99	1	0	0	0	0	1	0	0	0	1812	536	19	1	215	1	C16orf3	16	90095609	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	19117777	90095609	259144	34	6650											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			C	7578190	T	C	7578190	3	2	99	1	0	0	0	0	1	0	0	0	16378	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-06-6389-01A-11D-1696-08		7578190	73617020	35	6651											
MFSD6L	162387	broad.mit.edu	37	17	8700984	8700984	+	Silent	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr17:8700984G>A	uc002glp.2	-	0	1684	c.1455C>T	c.(1453-1455)ccC>ccT	p.P485P		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	485						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCTCCATGCGGGGAGTGGCCA	0.607													A	8700984	G	A	8700984	2	1	99	1	0	0	0	0	0	0	0	1	9536	1219	43	3		3	MFSD6L	17	8700984	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	1122794	8700984	72494226	36	6652											
PAK4	10298	broad.mit.edu	37	19	39663979	39663979	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr19:39663979C>T	uc002okj.1	+	4	1087	c.626C>T	c.(625-627)cCg>cTg	p.P209L	PAK4_uc002okl.1_Missense_Mutation_p.P209L|PAK4_uc002okn.1_Missense_Mutation_p.P209L|PAK4_uc002okm.1_Intron|PAK4_uc002oko.1_Intron|PAK4_uc002okp.1_Intron	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	209	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AACACCTACCCGAGGGCTGAC	0.701													T	39663979	C	T	39663979	3	4	99	1	0	0	0	0	1	0	0	0	11403	652	23	2	632	2	PAK4	19	39663979	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08		39663979	19465004	37	6653											
SIRPB1	10326	broad.mit.edu	37	20	1600539	1600539	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:1600539T>A	uc010gai.3	-	0	151	c.52A>T	c.(52-54)Acg>Tcg	p.T18S	SIRPB1_uc002wfk.4_Missense_Mutation_p.T18S|SIRPB1_uc002wfl.4_Missense_Mutation_p.T18S	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	18					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCAGTAGCGTCATCAGCAGG	0.567													A	1600539	T	A	1600539	3	1	99	1	0	0	0	0	1	0	0	0	14333	1667	58	5	2301	5	SIRPB1	20	1600539	Missense_Mutation	SNP	T	TCGA-06-6389-01A-11D-1696-08		1600539	61424981	38	6654											
PLAGL2	5326	broad.mit.edu	37	20	30785118	30785118	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:30785118G>C	uc002wxn.2	-	2	845	c.628C>G	c.(628-630)Cta>Gta	p.L210V		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCACCACTAGGTGCCGCCGT	0.612													C	30785118	G	C	30785118	3	2	99	1	0	0	0	0	1	0	0	0	12020	991	35	5	866	5	PLAGL2	20	30785118	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	29184579	30785118	32240402	39	6655											
PPDPF	79144	broad.mit.edu	37	20	62153045	62153045	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:62153045A>C	uc002yff.3	+	3	298	c.158A>C	c.(157-159)cAt>cCt	p.H53P		NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN	Homo sapiens pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish) (PPDPF), mRNA.	53					cell differentiation|multicellular organismal development					kidney(1)|lung(2)|ovary(1)	4						GACCCGGGTCATTGGTGGGCC	0.637													C	62153045	A	C	62153045	3	2	99	1	0	0	0	0	1	0	0	0	12306	217	8	5	168	5	PPDPF	20	62153045	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08	31367927	62153045	872475	40	6656											
C21orf91	54149	broad.mit.edu	37	21	19169182	19169182	+	Silent	SNP	T	T	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr21:19169182T>C	uc002yko.4	-	2	472	c.381A>G	c.(379-381)ccA>ccG	p.P127P	C21orf91_uc002ykq.4_Silent_p.P127P|C21orf91_uc002ykp.4_Silent_p.P127P	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN	Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.	127										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		ATTTTTCTTCTGGCTTATGCC	0.383													C	19169182	T	C	19169182	2	2	99	1	0	0	0	0	0	0	0	1	2134	1567	55	4		4	C21orf91	21	19169182	Silent	SNP	T	TCGA-06-6389-01A-11D-1696-08		19169182	28960713	41	6657											
KRTAP22-1	337979	broad.mit.edu	37	21	31973461	31973461	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr21:31973461C>T	uc011add.2	+	0	22	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	KRTAP6-2_uc011adc.2_5'Flank	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN	Homo sapiens keratin associated protein 22-1 (KRTAP22-1), mRNA.	8						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						TAACAACTACCATGGTGGCCA	0.453													T	31973461	C	T	31973461	3	4	99	1	0	0	0	0	1	0	0	0	8540	594	21	3	24	3	KRTAP22-1	21	31973461	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	12804279	31973461	16156434	42	6658											
APOBEC3B	9582	broad.mit.edu	37	22	39382073	39382073	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr22:39382073G>A	uc003awo.1	+	2	485	c.431G>A	c.(430-432)cGc>cAc	p.R144H	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.R144H|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	144					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCAGGAGCCCGCGTGACGATC	0.587													A	39382073	G	A	39382073	3	1	99	1	0	0	0	0	1	0	0	0	790	1087	38	1	441	1	APOBEC3B	22	39382073	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		39382073	11922493	43	6659											
CELSR1	9620	broad.mit.edu	37	22	46805742	46805742	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr22:46805742G>A	uc003bhw.1	-	7	4969	c.4969C>T	c.(4969-4971)Cgg>Tgg	p.R1657W	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1657	EGF-like 4; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTGACACCGCCTCCCATCG	0.622													A	46805742	G	A	46805742	3	1	99	1	0	0	0	0	1	0	0	0	3221	1086	38	1	4187	1	CELSR1	22	46805742	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	7423669	46805742	4498824	44	6660											
ACE2	59272	broad.mit.edu	37	X	15589843	15589843	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:15589843C>T	uc004cxa.1	-	12	1909	c.1741G>A	c.(1741-1743)Gta>Ata	p.V581I	ACE2_uc004cxb.2_Missense_Mutation_p.V581I	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	581					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGTGGCCTTACATTCATGTTC	0.448													T	15589843	C	T	15589843	3	4	99	1	0	0	0	0	1	0	0	0	137	478	17	3	700	3	ACE2	23	15589843	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08		15589843	139680717	45	6661											
DMD	1756	broad.mit.edu	37	X	32490283	32490283	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:32490283G>C	uc004dda.1	-	21	3191	c.2947C>G	c.(2947-2949)Cag>Gag	p.Q983E	DMD_uc004dcz.2_Missense_Mutation_p.Q860E|DMD_uc004dcy.1_Missense_Mutation_p.Q979E|DMD_uc004ddb.1_Missense_Mutation_p.Q975E|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	983					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			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)				TCACAGACCTGCAATTCCCCG	0.388													C	32490283	G	C	32490283	3	2	99	1	0	0	0	0	1	0	0	0	4580	1328	46	5	8585	5	DMD	23	32490283	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	16900440	32490283	122780277	46	6662											
PHKA1	5255	broad.mit.edu	37	X	71843109	71843109	+	Silent	SNP	A	A	G			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:71843109A>G	uc004eax.4	-	17	2111	c.1810T>C	c.(1810-1812)Ttg>Ctg	p.L604L	PHKA1_uc004eay.4_Silent_p.L604L|PHKA1_uc011mqi.2_Silent_p.L604L	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	604					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AACTCTGACAATTTACCTGTT	0.383													G	71843109	A	G	71843109	2	3	99	1	0	0	0	0	0	0	0	1	11843	98	4	4		4	PHKA1	23	71843109	Silent	SNP	A	TCGA-06-6389-01A-11D-1696-08	39352826	71843109	83427451	47	6663											
P2RY10	27334	broad.mit.edu	37	X	78216344	78216344	+	Silent	SNP	C	C	T			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:78216344C>T	uc022bzl.1	+	0	327	c.327C>T	c.(325-327)tgC>tgT	p.C109C	P2RY10_uc004ede.3_Silent_p.C109C|P2RY10_uc004edf.3_Silent_p.C109C	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	109						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCCTGCTCTGCTTCTACCTGA	0.483													T	78216344	C	T	78216344	2	4	99	1	0	0	0	0	0	0	0	1	11347	805	28	3		3	P2RY10	23	78216344	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	6373235	78216344	77054216	48	6664											
COL4A6	1288	broad.mit.edu	37	X	107435807	107435807	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:107435807T>C	uc004enw.4	-	17	1182	c.1079A>G	c.(1078-1080)aAt>aGt	p.N360S	COL4A6_uc004env.4_Missense_Mutation_p.N359S|COL4A6_uc011msn.2_Missense_Mutation_p.N359S|COL4A6_uc010npk.3_Missense_Mutation_p.N359S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	360	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATCTCCAGGATTACCTGGCAT	0.502									Alport syndrome with Diffuse Leiomyomatosis				C	107435807	T	C	107435807	3	2	99	1	0	0	0	0	1	0	0	0	3695	1493	52	4	4108	4	COL4A6	23	107435807	Missense_Mutation	SNP	T	TCGA-06-6389-01A-11D-1696-08	29219463	107435807	47834753	49	6665											
GABRQ	55879	broad.mit.edu	37	X	151820028	151820028	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:151820028A>C	uc004ffp.1	+	7	961	c.941A>C	c.(940-942)cAt>cCt	p.H314P		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	314						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATCGACTCACATCTGCGGGAT	0.468													C	151820028	A	C	151820028	3	2	99	1	0	0	0	0	1	0	0	0	6175	217	8	5	971	5	GABRQ	23	151820028	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08	44384221	151820028	3450532	50	6666											
SLC30A7	148867	broad.mit.edu	37	1	101379278	101379278	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:101379278G>T	uc001dtn.2	+	5	758	c.571G>T	c.(571-573)Gat>Tat	p.D191Y	SLC30A7_uc001dto.2_Missense_Mutation_p.D191Y	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.	191	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGCCATGTCGATCATTGCCA	0.443													T	101379278	G	T	101379278	3	4	100	1	0	0	0	0	1	0	0	0	14560	1058	37	5	593	5	SLC30A7	1	101379278	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		101379278	147871343	1	6667											
NPL	80896	broad.mit.edu	37	1	182787959	182787959	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:182787959T>G	uc009wyb.3	+	9	1046	c.618T>G	c.(616-618)agT>agG	p.S206R	NPL_uc010pnx.2_Intron|NPL_uc010pny.2_Non-coding_Transcript|NPL_uc001gpp.4_Missense_Mutation_p.S206R|NPL_uc021pfz.1_Missense_Mutation_p.S206R|NPL_uc009wyc.3_Intron|NPL_uc001gpo.2_Missense_Mutation_p.S187R	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA.	206					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTGTTGAGTGCTCTGGTGA	0.393													G	182787959	T	G	182787959	3	3	100	1	0	0	0	0	1	0	0	0	10585	1693	59	5	648	5	NPL	1	182787959	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	81408681	182787959	66462662	2	6668											
AHCTF1	25909	broad.mit.edu	37	1	247024397	247024397	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:247024397G>A	uc001ibv.2	-	28	4060	c.3963C>T	c.(3961-3963)atC>atT	p.I1321I	AHCTF1_uc009xgs.1_Silent_p.I173I|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	1312	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CATCGGATGTGATTGAAACAC	0.463													A	247024397	G	A	247024397	2	1	100	1	0	0	0	0	0	0	0	1	408	1280	45	3		3	AHCTF1	1	247024397	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	64236438	247024397	2226224	3	6669											
NLRP3	114548	broad.mit.edu	37	1	247586553	247586553	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:247586553C>T	uc001icr.3	+	3	443	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP3_uc001ics.3_Missense_Mutation_p.S102L|NLRP3_uc001icu.3_Missense_Mutation_p.S102L|NLRP3_uc001icw.3_Missense_Mutation_p.S102L|NLRP3_uc001icv.3_Missense_Mutation_p.S102L|NLRP3_uc010pyw.2_Missense_Mutation_p.S100L|NLRP3_uc001ict.1_Missense_Mutation_p.S100L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	102					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.S102L(2)|p.S102S(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)			GCACGTGTTTCGAATCCCACT	0.403													T	247586553	C	T	247586553	3	4	100	1	0	0	0	0	1	0	0	0	10478	893	31	2	311	2	NLRP3	1	247586553	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	562156	247586553	1664068	4	6670											
TTN	7273	broad.mit.edu	37	2	179596192	179596192	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr2:179596192G>A	uc021vsy.1	-	55	13794	c.13569C>T	c.(13567-13569)agC>agT	p.S4523S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S1184S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5450	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4523K(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)			TGATTTCATCGCTGTCTTTTA	0.483													A	179596192	G	A	179596192	2	1	100	1	0	0	0	0	0	0	0	1	16732	1078	38	1		1	TTN	2	179596192	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		179596192	63603181	5	6671											
QARS	5859	broad.mit.edu	37	3	49142151	49142151	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:49142151A>G	uc003cvx.3	-	0	21	c.16T>C	c.(16-18)Tcc>Ccc	p.S6P	QARS_uc011bcd.2_5'Flank|QARS_uc003cvy.3_5'UTR|QARS_uc011bce.2_Missense_Mutation_p.S6P|QARS_uc011bcf.1_Missense_Mutation_p.S6P	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	6					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCGACAGGGAGTCTAGAGCC	0.602													G	49142151	A	G	49142151	3	3	100	1	0	0	0	0	1	0	0	0	12871	304	11	4	2407	4	QARS	3	49142151	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08		49142151	148880279	6	6672											
UBA7	7318	broad.mit.edu	37	3	49847050	49847050	+	Silent	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:49847050C>T	uc003cxr.3	-	15	2184	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	671					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAAGAGCCCACGCCACACAGT	0.547													T	49847050	C	T	49847050	2	4	100	1	0	0	0	0	0	0	0	1	16830	523	19	1		1	UBA7	3	49847050	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08	704899	49847050	148175380	7	6673											
ABCC5	10057	broad.mit.edu	37	3	183677612	183677612	+	Silent	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:183677612T>C	uc003fmg.3	-	16	2556	c.2391A>G	c.(2389-2391)aaA>aaG	p.K797K	ABCC5_uc011bqt.2_Silent_p.K325K|ABCC5_uc010hxl.3_Silent_p.K797K	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	797						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGTTTCCTTTTTTGAATTGA	0.363													C	183677612	T	C	183677612	2	2	100	1	0	0	0	0	0	0	0	1	56	1838	64	4		4	ABCC5	3	183677612	Silent	SNP	T	TCGA-06-6390-01A-11D-1696-08	133830562	183677612	14344818	8	6674											
ZNF718	152687	broad.mit.edu	37	4	85691	85691	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:85691T>C	uc003fzv.1	+	3	452	c.296T>C	c.(295-297)aTa>aCa	p.I99T	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_5'UTR	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CACAAACTTATACTGAAAAGA	0.353													C	85691	T	C	85691	3	2	100	1	0	0	0	0	1	0	0	0	18117	1406	49	4		4	ZNF718	4	85691	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08		85691	191068585	9	6675											
FAM193A	8603	broad.mit.edu	37	4	2733554	2733554	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:2733554T>C	uc010ick.3	+	19	4235	c.4234T>C	c.(4234-4236)Tcc>Ccc	p.S1412P	FAM193A_uc003gfd.3_Missense_Mutation_p.S1212P|FAM193A_uc011bvm.2_Missense_Mutation_p.S1234P|FAM193A_uc011bvn.2_3'UTR|FAM193A_uc010icl.3_Missense_Mutation_p.S1253P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	1253										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TATCAACTGGTCCAATTTTAG	0.517													C	2733554	T	C	2733554	3	2	100	1	0	0	0	0	1	0	0	0	5524	1667	58	4	3700	4	FAM193A	4	2733554	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	2647863	2733554	188420722	10	6676											
PRKG2	5593	broad.mit.edu	37	4	82063966	82063966	+	Silent	SNP	C	C	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:82063966C>A	uc003hmh.2	-	9	1402	c.1389G>T	c.(1387-1389)ggG>ggT	p.G463G	PRKG2_uc011ccf.1_Silent_p.G43G|PRKG2_uc011ccg.1_Silent_p.G43G|PRKG2_uc011cch.1_Intron	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	463	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CTCTTCCGAACCCACCAACGC	0.428													A	82063966	C	A	82063966	2	1	100	1	0	0	0	0	0	0	0	1	12523	494	18	5		5	PRKG2	4	82063966	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08	79330412	82063966	109090310	11	6677											
FAT1	2195	broad.mit.edu	37	4	187630082	187630082	+	Silent	SNP	G	G	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:187630082G>T	uc003izf.3	-	1	1088	c.900C>A	c.(898-900)ctC>ctA	p.L300L	FAT1_uc010iso.1_Silent_p.L300L	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	300					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			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						TAAACTGCTGGAGAAGGTCAC	0.493										HNSCC(5;0.00058)			T	187630082	G	T	187630082	2	4	100	1	0	0	0	0	0	0	0	1	5689	1161	41	5		5	FAT1	4	187630082	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	105566116	187630082	3524194	12	6678											
GABRA6	2559	broad.mit.edu	37	5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:161119060G>A	uc003lyu.2	+	7	1278	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	314					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V314I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)			A	161119060	G	A	161119060	3	1	100	1	0	0	0	0	1	0	0	0	6165	1145	40	1	970	1	GABRA6	5	161119060	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		161119060	19796200	13	6679											
ZNF354C	30832	broad.mit.edu	37	5	178506220	178506220	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506220C>G	uc003mju.3	+	4	902	c.787C>G	c.(787-789)Cag>Gag	p.Q263E		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TCTTTCTCATCAGAGAATTCA	0.388													G	178506220	C	G	178506220	3	3	100	1	0	0	0	0	1	0	0	0	17863	827	29	5	801	5	ZNF354C	5	178506220	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	17387160	178506220	2409040	14	6680			1	20		3	3	346	C		1.872342e-07
ZNF354C	30832	broad.mit.edu	37	5	178506472	178506472	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506472C>G	uc003mju.3	+	4	1154	c.1039C>G	c.(1039-1041)Caa>Gaa	p.Q347E		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TCACAGGCATCAAAGAATCCA	0.428													G	178506472	C	G	178506472	3	3	100	1	0	0	0	0	1	0	0	0	17863	827	29	5	1053	5	ZNF354C	5	178506472	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	252	178506472	2408788	15	6681			1	20		3	3	346	C		1.872342e-07
ZNF354C	30832	broad.mit.edu	37	5	178506565	178506565	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506565C>A	uc003mju.3	+	4	1247	c.1132C>A	c.(1132-1134)Cat>Aat	p.H378N		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TCAGAGGTTTCATACTGGAGA	0.428													A	178506565	C	A	178506565	3	1	100	1	0	0	0	0	1	0	0	0	17863	826	29	5	1146	5	ZNF354C	5	178506565	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	93	178506565	2408695	16	6682			1	20		3	3	346	C		1.872342e-07
FTSJD2	23070	broad.mit.edu	37	6	37446254	37446254	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr6:37446254G>A	uc003ons.3	+	21	2476	c.2223G>A	c.(2221-2223)cgG>cgA	p.R741R		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	741	Interaction with POLR2A.				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						GTGATGACCGGCACTTTGTAC	0.587													A	37446254	G	A	37446254	2	1	100	1	0	0	0	0	0	0	0	1	6091	1190	42	3		3	FTSJD2	6	37446254	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		37446254	133668813	17	6683											
IGFBP1	3484	broad.mit.edu	37	7	45930223	45930223	+	Silent	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:45930223C>T	uc003tnp.3	+	1	719	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	142						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						ATCTGATGGCCCCTTCTGAAG	0.517											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45930223	C	T	45930223	2	4	100	1	0	0	0	0	0	0	0	1	7578	610	22	3		3	IGFBP1	7	45930223	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08		45930223	113208440	18	6684											
SEPT14	346288	broad.mit.edu	37	7	55910809	55910809	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:55910809T>C	uc003tqz.2	-	4	501	c.384A>G	c.(382-384)atA>atG	p.I128M		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	128					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTAGTCAACTATTGGTTGGT	0.358													C	55910809	T	C	55910809	3	2	100	1	0	0	0	0	1	0	0	0	14063	1512	53	4	938	4	SEPT14	7	55910809	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	9980586	55910809	103227854	19	6685											
KIAA1324L	222223	broad.mit.edu	37	7	86526910	86526910	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:86526910T>C	uc011kha.2	-	18	2782	c.2597A>G	c.(2596-2598)tAt>tGt	p.Y866C	KIAA1324L_uc003uie.3_Missense_Mutation_p.Y699C|KIAA1324L_uc011kgz.2_Missense_Mutation_p.Y752C|KIAA1324L_uc003uif.2_Missense_Mutation_p.Y618C	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	866						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCACAGGAAATAGAACGTACA	0.453													C	86526910	T	C	86526910	3	2	100	1	0	0	0	0	1	0	0	0	8224	1406	49	4	508	4	KIAA1324L	7	86526910	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	30616101	86526910	72611753	20	6686											
LY96	23643	broad.mit.edu	37	8	74941281	74941281	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:74941281T>C	uc003yad.3	+	4	589	c.475T>C	c.(475-477)Tca>Cca	p.S159P	LY96_uc022awb.1_Missense_Mutation_p.S129P	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	159					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CCAACCTAATTCAAATTAGAA	0.323													C	74941281	T	C	74941281	3	2	100	1	0	0	0	0	1	0	0	0	9102	1783	62	4	493	4	LY96	8	74941281	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08		74941281	71422741	21	6687											
RUNX1T1	862	broad.mit.edu	37	8	93017373	93017373	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:93017373G>A	uc022axs.1	-	5	1075	c.888C>T	c.(886-888)aaC>aaT	p.N296N	RUNX1T1_uc003yfc.2_Silent_p.N210N|RUNX1T1_uc010mam.3_Silent_p.N210N|RUNX1T1_uc003yfe.2_Silent_p.N200N|RUNX1T1_uc003yfd.3_Silent_p.N237N|RUNX1T1_uc022axo.1_Silent_p.N237N|RUNX1T1_uc010mao.3_Silent_p.N210N|RUNX1T1_uc011lgi.2_Silent_p.N248N|RUNX1T1_uc022axp.1_Silent_p.N237N|RUNX1T1_uc022axq.1_Silent_p.N237N|RUNX1T1_uc022axr.1_Silent_p.N237N|RUNX1T1_uc022axt.1_Silent_p.N237N|RUNX1T1_uc022axu.1_Silent_p.N217N|RUNX1T1_uc022axv.1_Silent_p.N237N|RUNX1T1_uc003yfb.2_Silent_p.N200N|RUNX1T1_uc003yff.1_Silent_p.N200N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	237	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCCCGTTTTCGTTCACATCGA	0.537													A	93017373	G	A	93017373	2	1	100	1	0	0	0	0	0	0	0	1	13747	1136	40	1		1	RUNX1T1	8	93017373	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	18076092	93017373	53346649	22	6688											
DENND3	22898	broad.mit.edu	37	8	142186755	142186755	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:142186755G>A	uc003yvy.3	+	14	2639	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	DENND3_uc010mep.3_Silent_p.A748A	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	787										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGAGTGGCGTCCAAGAAAG	0.483													A	142186755	G	A	142186755	2	1	100	1	0	0	0	0	0	0	0	1	4432	1132	40	1		1	DENND3	8	142186755	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	49169382	142186755	4177267	23	6689											
EPPK1	83481	broad.mit.edu	37	8	144945189	144945189	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:144945189G>A	uc003zaa.1	-	0	2246	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	745						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGCCGCGCCGGTAGGCCACG	0.652													A	144945189	G	A	144945189	3	1	100	1	0	0	0	0	1	0	0	0	5190	1115	39	2	5033	2	EPPK1	8	144945189	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	2758434	144945189	1418833	24	6690											
SH3GL2	6456	broad.mit.edu	37	9	17791242	17791242	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr9:17791242G>A	uc003zna.3	+	6	926	c.638G>A	c.(637-639)aGc>aAc	p.S213N	SH3GL2_uc011lmy.2_Missense_Mutation_p.S166N	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	213	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GAACAAGTGAGCCAGCTCTCT	0.478													A	17791242	G	A	17791242	3	1	100	1	0	0	0	0	1	0	0	0	14251	971	34	3	664	3	SH3GL2	9	17791242	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		17791242	123422189	25	6691											
CYLC2	1539	broad.mit.edu	37	9	105767006	105767006	+	Silent	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr9:105767006T>C	uc004bbs.2	+	3	280	c.210T>C	c.(208-210)gaT>gaC	p.D70D		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	70	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TAAGAGGAGATCGTAGACAAC	0.358													C	105767006	T	C	105767006	2	2	100	1	0	0	0	0	0	0	0	1	4142	1432	50	4		4	CYLC2	9	105767006	Silent	SNP	T	TCGA-06-6390-01A-11D-1696-08	87975764	105767006	35446425	26	6692											
OR9I1	219954	broad.mit.edu	37	11	57886023	57886023	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:57886023T>A	uc001nml.1	-	0	894	c.894A>T	c.(892-894)aaA>aaT	p.K298N	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGAAGGCGTCTTTTACATCTT	0.438													A	57886023	T	A	57886023	3	1	100	1	0	0	0	0	1	0	0	0	11253	1606	56	5	54	5	OR9I1	11	57886023	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08		57886023	77120493	27	6693											
C11orf20	25858	broad.mit.edu	37	11	64070987	64070987	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:64070987C>T	uc009ypm.3	+	2	1451	c.386C>T	c.(385-387)gCg>gTg	p.A129V	KCNK4_uc001nzm.4_Non-coding_Transcript|ESRRA_uc001nzq.1_5'Flank|ESRRA_uc001nzr.1_5'Flank|ESRRA_uc001nzs.1_5'Flank	NM_001039496	NP_001034585	Q9NTU4	CK020_HUMAN	Homo sapiens chromosome 11 open reading frame 20 (C11orf20), mRNA.	129					cell differentiation|spermatogenesis	cytoplasm				kidney(1)	1						CTCAATATTGCGAAGCACATG	0.552													T	64070987	C	T	64070987	3	4	100	1	0	0	0	0	1	0	0	0	1634	768	27	1	396	1	C11orf20	11	64070987	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	6184964	64070987	70935529	28	6694											
OR10G8	219869	broad.mit.edu	37	11	123901241	123901243	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:123901241_123901243delAGT	uc001pzp.1	+	0	912_914	c.912_914delAGT	c.(910-915)aaagta>aaa	p.V305del		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAAAGACAAAGTAGCACATTCT	0.448													-	123901243	AGT	-	123901241	7	5	100	1	0	1	0	1	0	0	0	0	10903	69	3	0	914	0	OR10G8	11	123901241	In_Frame_Del	DEL	AGT	TCGA-06-6390-01A-11D-1696-08	59830254	123901241	11105275	29	6695											
KIRREL3	84623	broad.mit.edu	37	11	126299112	126299112	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:126299112G>A	uc001qea.3	-	14	2129	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	KIRREL3_uc001qeb.3_Missense_Mutation_p.R578W|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	590					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.R590R(1)|p.R549R(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)		TCACCCTCCCGACCAGAGGCT	0.488													A	126299112	G	A	126299112	3	1	100	1	0	0	0	0	1	0	0	0	8326	1057	37	2	580	2	KIRREL3	11	126299112	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	2397871	126299112	8707404	30	6696											
TAS2R20	259295	broad.mit.edu	37	12	11150018	11150018	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:11150018C>G	uc001qzm.2	-	0	457	c.457G>C	c.(457-459)Gtg>Ctg	p.V153L	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.	153					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCTGTCCACACATTTATATAC	0.398													G	11150018	C	G	11150018	3	3	100	1	0	0	0	0	1	0	0	0	15568	478	17	5	476	5	TAS2R20	12	11150018	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		11150018	122701877	31	6697											
EPS8	2059	broad.mit.edu	37	12	15807133	15807133	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:15807133T>C	uc009zif.3	-	12	1290	c.1196A>G	c.(1195-1197)aAt>aGt	p.N399S	EPS8_uc001rdb.3_Missense_Mutation_p.N399S|EPS8_uc009zig.3_Missense_Mutation_p.N139S|EPS8_uc010shv.2_Missense_Mutation_p.N139S	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	399	PH; second part.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTCATCACCATTGACAGTATA	0.418													C	15807133	T	C	15807133	3	2	100	1	0	0	0	0	1	0	0	0	5194	1493	52	4	1308	4	EPS8	12	15807133	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	4657115	15807133	118044762	32	6698											
PA2G4	5036	broad.mit.edu	37	12	56501039	56501039	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:56501039A>G	uc001sjm.3	+	4	812	c.393_splice	c.e4+1	p.Q131_splice		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	131					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GATGTAGCTCAGGTAGGTGGC	0.488													G	56501039	A	G	56501039	3	3	100	1	0	0	0	0	1	0	0	0	11361	202	7	4	406	4	PA2G4	12	56501039	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08	40693906	56501039	77350856	33	6699											
USP15	9958	broad.mit.edu	37	12	62778015	62778015	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:62778015C>G	uc001src.2	+	10	1480	c.1405C>G	c.(1405-1407)Ccc>Gcc	p.P469A	USP15_uc001srb.2_Missense_Mutation_p.P440A	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	469					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACTTCCATTGCCCATGAAAAA	0.348													G	62778015	C	G	62778015	3	3	100	1	0	0	0	0	1	0	0	0	17043	739	26	5	1356	5	USP15	12	62778015	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	6276976	62778015	71073880	34	6700											
NAV3	89795	broad.mit.edu	37	12	78415582	78415582	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:78415582C>G	uc001syp.3	+	8	2136	c.1963C>G	c.(1963-1965)Cct>Gct	p.P655A	NAV3_uc001syo.3_Missense_Mutation_p.P655A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	655						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S654R(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						CTGTACCAGTCCTACAAAGAT	0.413										HNSCC(70;0.22)			G	78415582	C	G	78415582	3	3	100	1	0	0	0	0	1	0	0	0	10185	855	30	5	1997	5	NAV3	12	78415582	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	15637567	78415582	55436313	35	6701											
TPTE2	93492	broad.mit.edu	37	13	20039678	20039678	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:20039678C>T	uc001umd.3	-	8	750	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R69Q|TPTE2_uc001ume.3_Missense_Mutation_p.R103Q|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	180						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATAATAAGTCGTAGAAGTCG	0.313													T	20039678	C	T	20039678	3	4	100	1	0	0	0	0	1	0	0	0	16428	884	31	2	1081	2	TPTE2	13	20039678	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		20039678	95130200	36	6702											
SACS	26278	broad.mit.edu	37	13	23908157	23908157	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:23908157A>C	uc001uon.2	-	9	10447	c.9858T>G	c.(9856-9858)ttT>ttG	p.F3286L	SACS_uc001uoo.2_Missense_Mutation_p.F3139L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3286					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGAAACAGTAAACTTTGTTC	0.408													C	23908157	A	C	23908157	3	2	100	1	0	0	0	0	1	0	0	0	13804	359	13	5	3885	5	SACS	13	23908157	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08	3868479	23908157	91261721	37	6703											
SPATA13	221178	broad.mit.edu	37	13	24871773	24871773	+	Silent	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:24871773C>T	uc001upd.2	+	12	4061	c.3483C>T	c.(3481-3483)gaC>gaT	p.D1161D	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.D1161D|SPATA13_uc001upg.2_Silent_p.D536D|SPATA13_uc010tcy.1_Silent_p.D482D|SPATA13_uc010tcz.2_Silent_p.D420D|SPATA13_uc010tdb.2_Silent_p.D396D|SPATA13_uc010tda.2_Silent_p.D480D|SPATA13_uc001uph.3_Silent_p.D458D|SPATA13_uc009zzz.2_Intron|SPATA13_uc001upi.1_Silent_p.D42D	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	536					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GGACCACAGACGAGGTTTATT	0.532													T	24871773	C	T	24871773	2	4	100	1	0	0	0	0	0	0	0	1	14999	535	19	1		1	SPATA13	13	24871773	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08	963616	24871773	90298105	38	6704											
SLC46A3	283537	broad.mit.edu	37	13	29287613	29287613	+	Silent	SNP	T	T	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:29287613T>A	uc001usj.3	-	2	806	c.264A>T	c.(262-264)acA>acT	p.T88T	SLC46A3_uc001usg.3_Silent_p.T13T|SLC46A3_uc001usi.3_Silent_p.T88T|SLC46A3_uc001ush.3_Silent_p.T88T|SLC46A3_uc001usk.3_Silent_p.T13T	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	88					transmembrane transport	integral to membrane		p.T88T(3)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGTATGAATGTAGACACTA	0.378													A	29287613	T	A	29287613	2	1	100	1	0	0	0	0	0	0	0	1	14646	1451	51	5		5	SLC46A3	13	29287613	Silent	SNP	T	TCGA-06-6390-01A-11D-1696-08	4415840	29287613	85882265	39	6705											
VPS18	57617	broad.mit.edu	37	15	41191638	41191638	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:41191638C>T	uc001zne.3	+	3	961	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	208					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTGTGCTCCCTTGAGGCCGA	0.617													T	41191638	C	T	41191638	3	4	100	1	0	0	0	0	1	0	0	0	17191	681	24	3	636	3	VPS18	15	41191638	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		41191638	61339754	40	6706											
UBR1	197131	broad.mit.edu	37	15	43317593	43317593	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:43317593T>C	uc001zqq.3	-	23	2636	c.2570A>G	c.(2569-2571)gAa>gGa	p.E857G	UBR1_uc010udk.1_Missense_Mutation_p.E857G	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	857					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATCTTTGTTTTCTTGTTTTCT	0.299													C	43317593	T	C	43317593	3	2	100	1	0	0	0	0	1	0	0	0	16898	1783	62	4	2775	4	UBR1	15	43317593	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	2125955	43317593	59213799	41	6707											
GABPB1	2553	broad.mit.edu	37	15	50593079	50593079	+	Missense_Mutation	SNP	C	C	T	rs147105901	byFrequency	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:50593079C>T	uc001zyb.3	-	5	1064	c.640G>A	c.(640-642)Gtt>Att	p.V214I	GABPB1_uc001zya.3_Missense_Mutation_p.V202I|GABPB1_uc010ufg.2_Missense_Mutation_p.V138I|GABPB1_uc001zyd.3_Missense_Mutation_p.V202I|GABPB1_uc001zye.3_Missense_Mutation_p.V214I|GABPB1_uc001zyf.3_Missense_Mutation_p.V202I|GABPB1_uc001zyc.3_Missense_Mutation_p.V202I	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	214					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CCAAACTGAACAGCAGATACA	0.348													T	50593079	C	T	50593079	3	4	100	1	0	0	0	0	1	0	0	0	6158	478	17	3	611	3	GABPB1	15	50593079	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	7275486	50593079	51938313	42	6708											
MEFV	4210	broad.mit.edu	37	16	3299649	3299649	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr16:3299649G>A	uc002cun.1	-	2	1082	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	MEFV_uc021tbw.1_Missense_Mutation_p.R137C|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	348					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R348H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCAGGTGAGCGGCTGCCTGAG	0.657													A	3299649	G	A	3299649	3	1	100	1	0	0	0	0	1	0	0	0	9459	1116	39	2	1335	2	MEFV	16	3299649	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		3299649	87055104	43	6709											
IL21R	50615	broad.mit.edu	37	16	27460197	27460197	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr16:27460197C>A	uc002dor.2	+	9	1824	c.1276C>A	c.(1276-1278)Ctg>Atg	p.L426M	IL21R_uc002doq.2_Missense_Mutation_p.L404M|IL21R_uc002dos.2_Missense_Mutation_p.L404M|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	404					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCCCTGGACCTGGATGCTGG	0.632			T	BCL6	NHL								A	27460197	C	A	27460197	3	1	100	1	0	0	0	0	1	0	0	0	7671	680	24	5	1240	5	IL21R	16	27460197	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	24160548	27460197	62894556	44	6710											
CLEC10A	10462	broad.mit.edu	37	17	6978469	6978469	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:6978469G>A	uc002gek.3	-	8	1158	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CLEC10A_uc002gej.3_Silent_p.F261F|CLEC10A_uc010clv.2_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	285	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CGTCTGGATGGAAGTGAGCAC	0.627													A	6978469	G	A	6978469	2	1	100	1	0	0	0	0	0	0	0	1	3495	1165	41	3		3	CLEC10A	17	6978469	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		6978469	74216741	45	6711											
DNAH2	146754	broad.mit.edu	37	17	7721011	7721011	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:7721011G>A	uc002giu.1	+	64	10167	c.10153G>A	c.(10153-10155)Gtc>Atc	p.V3385I	DNAH2_uc010cnm.1_Missense_Mutation_p.V323I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3385	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCATCATCGTCACCCGAGG	0.597													A	7721011	G	A	7721011	3	1	100	1	0	0	0	0	1	0	0	0	4602	1145	40	1	10411	1	DNAH2	17	7721011	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	742542	7721011	73474199	46	6712											
MYO15A	51168	broad.mit.edu	37	17	18058720	18058720	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:18058720G>A	uc021trm.1	+	45	8652	c.8433G>A	c.(8431-8433)ggG>ggA	p.G2811G	MYO15A_uc021trl.1_Silent_p.G2809G|MYO15A_uc010vxi.2_Silent_p.G75G|MYO15A_uc010vxj.1_Silent_p.G10G|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank|MYO15A_uc002gsl.3_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2811	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCGGCGGGCAGCTGCGGG	0.647													A	18058720	G	A	18058720	2	1	100	1	0	0	0	0	0	0	0	1	10063	1190	42	3		3	MYO15A	17	18058720	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	10337709	18058720	63136490	47	6713											
RNF213	57674	broad.mit.edu	37	17	78349658	78349658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:78349658delC	uc002jyh.2	+	51	13463	c.13320delC	c.(13318-13320)cacfs	p.H4440fs	RNF213_uc021uen.1_Frame_Shift_Del_p.H4391fs|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAGCCTCCACCCCACGCCAG	0.473													-	78349658	C	-	78349658	7	5	100	1	0	1	0	1	0	0	0	0	13477	506	18	0	13690	0	RNF213	17	78349658	Frame_Shift_Del	DEL	C	TCGA-06-6390-01A-11D-1696-08	60290938	78349658	2845552	48	6714											
POLRMT	5442	broad.mit.edu	37	19	629657	629657	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:629657G>A	uc002lpf.1	-	2	761	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	235					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCTGGTCAGTGAGCAGGCAGC	0.662													A	629657	G	A	629657	2	1	100	1	0	0	0	0	0	0	0	1	12238	1277	45	3		3	POLRMT	19	629657	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		629657	58499326	49	6715											
MUC16	94025	broad.mit.edu	37	19	9056794	9056794	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:9056794A>G	uc002mkp.3	-	2	30856	c.30652T>C	c.(30652-30654)Tca>Cca	p.S10218P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10220	Ser-rich.|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						GTATACTGTGAGGCTGGAGGC	0.463													G	9056794	A	G	9056794	3	3	100	1	0	0	0	0	1	0	0	0	9973	304	11	4	13199	4	MUC16	19	9056794	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08	8427137	9056794	50072189	50	6716											
EPS15L1	58513	broad.mit.edu	37	19	16528878	16528878	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:16528878T>C	uc002ndx.3	-	10	994	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.K220E|EPS15L1_uc002ndz.1_Missense_Mutation_p.K330E|EPS15L1_uc010xpf.1_Missense_Mutation_p.K233E|EPS15L1_uc002nea.1_Missense_Mutation_p.K330E|EPS15L1_uc010eah.1_Missense_Mutation_p.K330E|EPS15L1_uc002neb.1_Missense_Mutation_p.K176E|EPS15L1_uc002nec.1_Missense_Mutation_p.K330E	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	330	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AATTGGTCTTTGCTTAACTTC	0.547											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	16528878	T	C	16528878	3	2	100	1	0	0	0	0	1	0	0	0	5193	1821	63	4	1658	4	EPS15L1	19	16528878	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	7472084	16528878	42600105	51	6717											
USHBP1	83878	broad.mit.edu	37	19	17362437	17362437	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:17362437G>A	uc002nfs.1	-	11	1989	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	USHBP1_uc002nfr.1_Missense_Mutation_p.R252W|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R562W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	626							PDZ domain binding	p.R626W(2)		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						CTCTGAGACCGTCTGGCTCGC	0.607													A	17362437	G	A	17362437	3	1	100	1	0	0	0	0	1	0	0	0	17034	1144	40	1	243	1	USHBP1	19	17362437	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	833559	17362437	41766546	52	6718											
MAG	4099	broad.mit.edu	37	19	35786610	35786610	+	Silent	SNP	G	G	A			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:35786610G>A	uc002nyy.2	+	3	339	c.141G>A	c.(139-141)ccG>ccA	p.P47P	MAG_uc002nyx.2_Silent_p.P47P|MAG_uc010eds.2_Silent_p.P22P|MAG_uc002nyz.2_Silent_p.P47P	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	47	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGACTTCCCGGATGAGCTGC	0.642													A	35786610	G	A	35786610	2	1	100	1	0	0	0	0	0	0	0	1	9162	1103	39	2		2	MAG	19	35786610	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	18424173	35786610	23342373	53	6719											
PRDM15	63977	broad.mit.edu	37	21	43246405	43246405	+	Missense_Mutation	SNP	G	G	A	rs139958739	by1000genomes	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr21:43246405G>A	uc002yzq.1	-	19	2749	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W	PRDM15_uc002yzo.3_Missense_Mutation_p.R551W|PRDM15_uc002yzp.3_Missense_Mutation_p.R571W|PRDM15_uc002yzr.1_Missense_Mutation_p.R571W	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	880					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCACTCGCCGCACTCCTGAA	0.577													A	43246405	G	A	43246405	3	1	100	1	0	0	0	0	1	0	0	0	12456	1086	38	1	1933	1	PRDM15	21	43246405	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		43246405	4883490	54	6720											
PIWIL3	440822	broad.mit.edu	37	22	25155854	25155854	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr22:25155854C>T	uc003abd.1	-	2	622	c.205G>A	c.(205-207)Gga>Aga	p.G69R	PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.G69R|PIWIL3_uc011ajy.1_5'UTR	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	69					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTGCTCCTCCTCCTGCTCCT	0.582													T	25155854	C	T	25155854	3	4	100	1	0	0	0	0	1	0	0	0	11959	690	24	3	2519	3	PIWIL3	22	25155854	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		25155854	26148712	55	6721											
HTR1D	3352	broad.mit.edu	37	1	23520158	23520158	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:23520158C>T	uc001bgn.3	-	0	1065	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	185					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GACAGTCCGACATCTCCTCCT	0.592													T	23520158	C	T	23520158	3	4	101	1	0	0	0	0	1	0	0	0	7438	478	17	3	582	3	HTR1D	1	23520158	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		23520158	225730463	1	6722											
MTF1	4520	broad.mit.edu	37	1	38305766	38305766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:38305766C>T	uc001cce.1	-	2	614	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	158						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGTGGGTTCGCAGGTTGCC	0.527													T	38305766	C	T	38305766	3	4	101	1	0	0	0	0	1	0	0	0	9922	884	31	2	1824	2	MTF1	1	38305766	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	14785608	38305766	210944855	2	6723											
IL12RB2	3595	broad.mit.edu	37	1	67861543	67861543	+	Missense_Mutation	SNP	C	C	T	rs141507006		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:67861543C>T	uc001ddu.3	+	15	3000	c.2360C>T	c.(2359-2361)aCg>aTg	p.T787M	IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.T701M|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	787					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.T787T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGTCCCTGGACGGTGCTCCCA	0.582													T	67861543	C	T	67861543	3	4	101	1	0	0	0	0	1	0	0	0	7627	536	19	1	2418	1	IL12RB2	1	67861543	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	29555777	67861543	181389078	3	6724											
LRRC8D	55144	broad.mit.edu	37	1	90400304	90400304	+	Silent	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:90400304C>G	uc021opq.1	+	0	1677	c.1677C>G	c.(1675-1677)ctC>ctG	p.L559L	LRRC8D_uc001dnm.3_Silent_p.L559L|LRRC8D_uc001dnn.3_Silent_p.L559L	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	559						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TGTATTTGCTCAAAAACCTTC	0.418													G	90400304	C	G	90400304	2	3	101	1	0	0	0	0	0	0	0	1	9024	813	29	5		5	LRRC8D	1	90400304	Silent	SNP	C	TCGA-06-6391-01A-11D-1696-08	22538761	90400304	158850317	4	6725											
C1orf85	112770	broad.mit.edu	37	1	156264001	156264001	+	Silent	SNP	T	T	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:156264001T>A	uc001foh.3	-	3	619	c.606A>T	c.(604-606)cgA>cgT	p.R202R	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	202					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GTTGGGCTGGTCGGCTGGACC	0.592													A	156264001	T	A	156264001	2	1	101	1	0	0	0	0	0	0	0	1	2062	1654	58	5		5	C1orf85	1	156264001	Silent	SNP	T	TCGA-06-6391-01A-11D-1696-08	65863697	156264001	92986620	5	6726											
NTRK1	4914	broad.mit.edu	37	1	156841494	156841494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:156841494G>A	uc001fqh.1	+	6	853	c.797G>A	c.(796-798)tGg>tAg	p.W266*	NTRK1_uc001fqf.1_Nonsense_Mutation_p.W236*|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Nonsense_Mutation_p.W266*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.W266*	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	266	Ig-like C2-type 1.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTGACGTGCTGGGCAGAGAAC	0.592			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			A	156841494	G	A	156841494	4	1	101	1	0	0	0	0	0	1	0	0	10706	1357	47	3	953	3	NTRK1	1	156841494	Nonsense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	577493	156841494	92409127	6	6727											
SIPA1L2	57568	broad.mit.edu	37	1	232574923	232574923	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:232574923G>A	uc001hvg.3	-	12	4120	c.3962C>T	c.(3961-3963)tCc>tTc	p.S1321F	SIPA1L2_uc001hvf.3_Missense_Mutation_p.S395F	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1321	Ser-rich.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAGATGGTGGACGCGTAGCC	0.602													A	232574923	G	A	232574923	3	1	101	1	0	0	0	0	1	0	0	0	14330	1174	41	3	1242	3	SIPA1L2	1	232574923	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	75733429	232574923	16675698	7	6728											
APOB	338	broad.mit.edu	37	2	21229086	21229086	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:21229086C>G	uc002red.3	-	25	10782	c.10654G>C	c.(10654-10656)Gga>Cga	p.G3552R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3552					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGGCTTCTCCAGCAAAATTT	0.443													G	21229086	C	G	21229086	3	3	101	1	0	0	0	0	1	0	0	0	785	603	21	5	3053	5	APOB	2	21229086	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		21229086	221970287	8	6729											
APOB	338	broad.mit.edu	37	2	21245793	21245793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:21245793G>A	uc002red.3	-	17	2854	c.2726C>T	c.(2725-2727)tCg>tTg	p.S909L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	909	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCAGACCCGACTCGTGGAA	0.498													A	21245793	G	A	21245793	3	1	101	1	0	0	0	0	1	0	0	0	785	1059	37	2	11013	2	APOB	2	21245793	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	16707	21245793	221953580	9	6730											
NEB	4703	broad.mit.edu	37	2	152476016	152476016	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:152476016G>A	uc021vrb.1	-	67	10121	c.10092C>T	c.(10090-10092)ccC>ccT	p.P3364P	NEB_uc002txu.3_Silent_p.P3607P|NEB_uc021vrc.1_Silent_p.P3607P|NEB_uc010fnx.3_Silent_p.P3352P|NEB_uc021vrd.1_Silent_p.P3364P	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3364					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTCTGGTCGGGCAGGCAGA	0.483													A	152476016	G	A	152476016	2	1	101	1	0	0	0	0	0	0	0	1	10302	1103	39	2		2	NEB	2	152476016	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	131230223	152476016	90723357	10	6731											
ZNF142	7701	broad.mit.edu	37	2	219509392	219509392	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:219509392C>T	uc002vin.3	-	7	2283	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	ZNF142_uc002vil.3_Missense_Mutation_p.G577E|ZNF142_uc010fvt.3_Missense_Mutation_p.G453E|ZNF142_uc002vim.3_Missense_Mutation_p.G453E	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W616L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGCATGGCCCCTTCTGGCTC	0.607													T	219509392	C	T	219509392	3	4	101	1	0	0	0	0	1	0	0	0	17728	623	22	3	3228	3	ZNF142	2	219509392	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	67033376	219509392	23689981	11	6732											
ASB18	401036	broad.mit.edu	37	2	237103656	237103656	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:237103656G>A	uc010znh.2	-	5	1260	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 18 (ASB18), mRNA.	420	SOCS box.				intracellular signal transduction					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)		GGCAGCGTGGGGTGAGGGCCA	0.557													A	237103656	G	A	237103656	2	1	101	1	0	0	0	0	0	0	0	1	1022	1219	43	3		3	ASB18	2	237103656	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	17594264	237103656	6095717	12	6733											
SCN10A	6336	broad.mit.edu	37	3	38743393	38743393	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:38743393G>A	uc003ciq.3	-	25	4594	c.4594C>T	c.(4594-4596)Cag>Tag	p.Q1532*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1532					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAGTAGTACTGCCTCAAAGCG	0.483													A	38743393	G	A	38743393	4	1	101	1	0	0	0	0	0	1	0	0	13912	1328	46	3	1284	3	SCN10A	3	38743393	Nonsense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		38743393	159279037	13	6734											
CCR5	1234	broad.mit.edu	37	3	46414869	46414869	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:46414869C>T	uc003cpo.4	+	2	598	c.476C>T	c.(475-477)gCg>gTg	p.A159V	CCR5_uc010hjd.3_Missense_Mutation_p.A159V|CCR5_uc021wxb.1_Missense_Mutation_p.A159V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	159					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCTGTGTTTGCGTCTCTCCCA	0.468													T	46414869	C	T	46414869	3	4	101	1	0	0	0	0	1	0	0	0	2944	768	27	1	478	1	CCR5	3	46414869	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	7671476	46414869	151607561	14	6735											
SEMA3G	56920	broad.mit.edu	37	3	52469856	52469856	+	Silent	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:52469856C>T	uc003dea.1	-	15	2112	c.2112G>A	c.(2110-2112)aaG>aaA	p.K704K		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	704					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGTACCAGGCCTTGGGTGGGG	0.642													T	52469856	C	T	52469856	2	4	101	1	0	0	0	0	0	0	0	1	14030	680	24	3		3	SEMA3G	3	52469856	Silent	SNP	C	TCGA-06-6391-01A-11D-1696-08	6054987	52469856	145552574	15	6736											
EAF2	55840	broad.mit.edu	37	3	121573665	121573665	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:121573665A>T	uc003een.3	+	2	432	c.333A>T	c.(331-333)aaA>aaT	p.K111N	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	111					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CTGTAAAAAAAACAAGGTATG	0.254													T	121573665	A	T	121573665	3	4	101	1	0	0	0	0	1	0	0	0	4876	11	1	5	343	5	EAF2	3	121573665	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	69103809	121573665	76448765	16	6737											
MBNL1	4154	broad.mit.edu	37	3	152163096	152163096	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:152163096A>T	uc003ezm.3	+	3	1364	c.575A>T	c.(574-576)aAt>aTt	p.N192I	MBNL1_uc003ezh.3_Missense_Mutation_p.N192I|MBNL1_uc003ezi.3_Missense_Mutation_p.N192I|MBNL1_uc003ezj.3_Missense_Mutation_p.N135I|MBNL1_uc003ezl.3_Missense_Mutation_p.N192I|MBNL1_uc003ezp.3_Missense_Mutation_p.N192I|MBNL1_uc003ezn.3_Missense_Mutation_p.N124I|MBNL1_uc003ezo.3_Missense_Mutation_p.N124I|MBNL1_uc010hvp.3_Missense_Mutation_p.N100I	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	192					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	p.G191D(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAACGTGGCAATTGCAACCGA	0.403													T	152163096	A	T	152163096	3	4	101	1	0	0	0	0	1	0	0	0	9353	101	4	5	589	5	MBNL1	3	152163096	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	30589431	152163096	45859334	17	6738											
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:178916876G>A	uc003fjk.3	+	1	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(102)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916876	G	A	178916876	3	1	101	1	0	0	0	0	1	0	0	0	11913	1058	37	2	265	2	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	26753780	178916876	19105554	18	6739											
TXK	7294	broad.mit.edu	37	4	48106929	48106929	+	Silent	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr4:48106929A>G	uc003gxx.4	-	5	576	c.490T>C	c.(490-492)Ttg>Ctg	p.L164L	TXK_uc003gxy.1_Silent_p.L164L	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	164	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.L163L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCTTGTCTCAATAGATGTTCT	0.254													G	48106929	A	G	48106929	2	3	101	1	0	0	0	0	0	0	0	1	16783	98	4	4		4	TXK	4	48106929	Silent	SNP	A	TCGA-06-6391-01A-11D-1696-08		48106929	143047347	19	6740											
CCDC158	339965	broad.mit.edu	37	4	77283442	77283442	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr4:77283442C>A	uc003hkb.4	-	11	2010	c.1857G>T	c.(1855-1857)aaG>aaT	p.K619N		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	619										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCCGGATCTTTGCATCTT	0.393													A	77283442	C	A	77283442	3	1	101	1	0	0	0	0	1	0	0	0	2790	912	32	5	1536	5	CCDC158	4	77283442	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	29176513	77283442	113870834	20	6741											
DNAH5	1767	broad.mit.edu	37	5	13871097	13871097	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:13871097C>T	uc003jfd.2	-	23	3655	c.3613G>A	c.(3613-3615)Gcc>Acc	p.A1205T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1205	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					GCAGTCAGGGCGAACTTCAAG	0.403									Kartagener syndrome				T	13871097	C	T	13871097	3	4	101	1	0	0	0	0	1	0	0	0	4604	768	27	1	10485	1	DNAH5	5	13871097	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		13871097	167044163	21	6742											
HEATR7B2	133558	broad.mit.edu	37	5	41051145	41051145	+	Silent	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:41051145T>C	uc003jmj.4	-	12	1768	c.1278A>G	c.(1276-1278)gaA>gaG	p.E426E	HEATR7B2_uc003jmi.4_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	426							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTCGGACAGATTCCTCTTCCT	0.423													C	41051145	T	C	41051145	2	2	101	1	0	0	0	0	0	0	0	1	7035	1490	52	4		4	HEATR7B2	5	41051145	Silent	SNP	T	TCGA-06-6391-01A-11D-1696-08	27180048	41051145	139864115	22	6743											
PCDHAC2	56145	broad.mit.edu	37	5	140181903	140181903	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:140181903T>C	uc003lhf.2	+	0	1121	c.1121T>C	c.(1120-1122)gTg>gCg	p.V374A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V374A	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	389	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATCAGCGTGTCCGACCGC	0.483													C	140181903	T	C	140181903	3	2	101	1	0	0	0	0	1	0	0	0	11533	1696	59	4		4	PCDHAC2	5	140181903	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	99130758	140181903	40733357	23	6744											
GLRA1	2741	broad.mit.edu	37	5	151230995	151230995	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:151230995T>A	uc003lut.3	-	6	1155	c.868A>T	c.(868-870)Acc>Tcc	p.T290S	GLRA1_uc003lur.3_Missense_Mutation_p.T290S|GLRA1_uc003lus.3_Missense_Mutation_p.T207S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	290					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGGTCATGGTGAGCACAGTG	0.547													A	151230995	T	A	151230995	3	1	101	1	0	0	0	0	1	0	0	0	6454	1696	59	5	517	5	GLRA1	5	151230995	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	11049092	151230995	29684265	24	6745											
ZNF165	7718	broad.mit.edu	37	6	28056507	28056507	+	Silent	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:28056507A>G	uc021yro.1	+	3	1544	c.717A>G	c.(715-717)aaA>aaG	p.K239K	ZNF165_uc003nkh.3_Silent_p.K239K|ZNF165_uc003nki.4_Silent_p.K239K|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	239					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATGGGAAAAAGAATCAGGGG	0.433													G	28056507	A	G	28056507	2	3	101	1	0	0	0	0	0	0	0	1	17737	69	3	4		4	ZNF165	6	28056507	Silent	SNP	A	TCGA-06-6391-01A-11D-1696-08		28056507	143058560	25	6746											
SLC26A8	116369	broad.mit.edu	37	6	35922972	35922972	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:35922972A>T	uc003olm.3	-	16	2300	c.2189T>A	c.(2188-2190)aTg>aAg	p.M730K	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.M312K|SLC26A8_uc003oll.3_Missense_Mutation_p.M625K|SLC26A8_uc003oln.3_Missense_Mutation_p.M730K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	730	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTAGTGTACCATGGAGAAATC	0.547													T	35922972	A	T	35922972	3	4	101	1	0	0	0	0	1	0	0	0	14523	217	8	5	739	5	SLC26A8	6	35922972	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	7866465	35922972	135192095	26	6747											
EPM2A	7957	broad.mit.edu	37	6	145948736	145948736	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:145948736C>T	uc003qkw.3	-	3	1169	c.812G>A	c.(811-813)gGc>gAc	p.G271D	EPM2A_uc003qkv.3_Missense_Mutation_p.G271D|EPM2A_uc010khr.3_Silent_p.G190G|EPM2A_uc003qkx.3_Missense_Mutation_p.G133D|EPM2A_uc003qku.3_Missense_Mutation_p.G117D	NM_005670	NP_005661	O95278	EPM2A_HUMAN	Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA.	271	Tyrosine-protein phosphatase.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		GGTGGAGCGGCCCACCCCAGC	0.632													T	145948736	C	T	145948736	3	4	101	1	0	0	0	0	1	0	0	0	5183	739	26	3	221	3	EPM2A	6	145948736	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	110025764	145948736	25166331	27	6748											
C7orf10	79783	broad.mit.edu	37	7	40899925	40899925	+	Silent	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:40899925G>C	uc022acd.1	+	14	1287	c.1263G>C	c.(1261-1263)gtG>gtC	p.V421V	C7orf10_uc003thn.2_Silent_p.V395V|C7orf10_uc003tho.2_Silent_p.V347V|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	395							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GCCCAGCTGTGAGATACAGTA	0.527													C	40899925	G	C	40899925	2	2	101	1	0	0	0	0	0	0	0	1	2376	1277	45	5		5	C7orf10	7	40899925	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		40899925	118238738	28	6749			1	21		2	2	26	G		6.13741e-05
C7orf10	79783	broad.mit.edu	37	7	40899950	40899950	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:40899950G>C	uc022acd.1	+	14	1312	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	C7orf10_uc003thn.2_Missense_Mutation_p.E404Q|C7orf10_uc003tho.2_Missense_Mutation_p.E356Q|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	404							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CAAGATGTCAGAGGCCAGGCC	0.552													C	40899950	G	C	40899950	3	2	101	1	0	0	0	0	1	0	0	0	2376	943	33	5	1235	5	C7orf10	7	40899950	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	25	40899950	118238713	29	6750			1	21		2	2	26	G		6.13741e-05
STEAP4	79689	broad.mit.edu	37	7	87912074	87912074	+	Missense_Mutation	SNP	C	C	A	rs79363691		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:87912074C>A	uc022agz.1	-	3	1089	c.866G>T	c.(865-867)tGc>tTc	p.C289F	STEAP4_uc003ujs.3_Missense_Mutation_p.C289F|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	289	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGCTTTCGGCAAAGCATCCA	0.478													A	87912074	C	A	87912074	3	1	101	1	0	0	0	0	1	0	0	0	15279	710	25	5	525	5	STEAP4	7	87912074	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	47012124	87912074	71226589	30	6751											
EZH2	2146	broad.mit.edu	37	7	148506237	148506237	+	Silent	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:148506237A>T	uc003wfd.2	-	18	2299	c.2106T>A	c.(2104-2106)gtT>gtA	p.V702V	EZH2_uc022aov.1_Silent_p.V621V|EZH2_uc011kug.2_Silent_p.V651V|EZH2_uc003wfb.2_Silent_p.V707V|EZH2_uc003wfc.2_Silent_p.V663V|EZH2_uc011kuh.2_Silent_p.V693V	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	702	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GATCACCGTTAACCATCATAA	0.443			Mis		DLBCL								T	148506237	A	T	148506237	2	4	101	1	0	0	0	0	0	0	0	1	5334	349	13	5		5	EZH2	7	148506237	Silent	SNP	A	TCGA-06-6391-01A-11D-1696-08	60594163	148506237	10632426	31	6752											
ZFHX4	79776	broad.mit.edu	37	8	77766549	77766549	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr8:77766549G>A	uc003yau.2	+	9	7779	c.7392G>A	c.(7390-7392)tcG>tcA	p.S2464S	ZFHX4_uc003yaw.1_Silent_p.S2419S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2419						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S2448S(2)		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)			GACCTCCCTCGGCCTCTCAAA	0.537										HNSCC(33;0.089)			A	77766549	G	A	77766549	2	1	101	1	0	0	0	0	0	0	0	1	17632	1103	39	2		2	ZFHX4	8	77766549	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		77766549	68597473	32	6753											
IARS	3376	broad.mit.edu	37	9	95050515	95050515	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr9:95050515C>T	uc004art.1	-	2	426	c.169G>A	c.(169-171)Gga>Aga	p.G57R	IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.G57R|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Missense_Mutation_p.M12I	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	57					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGTATATGTCCATAGTGAGGC	0.368													T	95050515	C	T	95050515	3	4	101	1	0	0	0	0	1	0	0	0	7473	603	21	3	3747	3	IARS	9	95050515	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		95050515	46162916	33	6754											
DNM1	1759	broad.mit.edu	37	9	130965824	130965824	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr9:130965824G>A	uc022bob.1	+	0	162	c.75G>A	c.(73-75)caG>caA	p.Q25Q	CIZ1_uc004btw.3_Intron|CIZ1_uc004btv.3_Intron|DNM1_uc022bnx.1_Silent_p.Q25Q|DNM1_uc022bny.1_Silent_p.Q25Q|DNM1_uc022bnz.1_Silent_p.Q25Q|DNM1_uc022boa.1_Silent_p.Q25Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	25					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCATCGGCCAGAACGCGGACC	0.692													A	130965824	G	A	130965824	2	1	101	1	0	0	0	0	0	0	0	1	4670	933	33	3		3	DNM1	9	130965824	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	35915309	130965824	10247607	34	6755											
SORBS1	10580	broad.mit.edu	37	10	97096883	97096883	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr10:97096883C>G	uc001kkp.3	-	27	3079	c.3034G>C	c.(3034-3036)Gag>Cag	p.E1012Q	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.E966Q|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1012					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATAGAAGCCTCTGGCAGAGGA	0.607													G	97096883	C	G	97096883	3	3	101	1	0	0	0	0	1	0	0	0	14927	922	32	5	924	5	SORBS1	10	97096883	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		97096883	38437864	35	6756											
OR10Q1	219960	broad.mit.edu	37	11	57996044	57996044	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:57996044C>T	uc010rkd.2	-	0	347	c.304G>A	c.(304-306)Ggg>Agg	p.G102R		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G102V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ATTTGGGCCCCACATCCAGCC	0.547													T	57996044	C	T	57996044	3	4	101	1	0	0	0	0	1	0	0	0	10916	594	21	3	659	3	OR10Q1	11	57996044	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		57996044	77010472	36	6757											
GAB2	9846	broad.mit.edu	37	11	77934481	77934481	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:77934481C>T	uc001ozh.3	-	5	1646	c.1544G>A	c.(1543-1545)cGc>cAc	p.R515H	GAB2_uc001ozg.3_Missense_Mutation_p.R477H	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	515					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTTGAGGTTGCGGTTGACAGG	0.547													T	77934481	C	T	77934481	3	4	101	1	0	0	0	0	1	0	0	0	6149	768	27	1	506	1	GAB2	11	77934481	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	19938437	77934481	57072035	37	6758											
PDGFD	80310	broad.mit.edu	37	11	103797801	103797801	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:103797801T>C	uc001phq.3	-	5	1198	c.826A>G	c.(826-828)Aat>Gat	p.N276D	PDGFD_uc001php.3_Missense_Mutation_p.N270D	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	276					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ACCGAGTAATTCCTGGGAGTG	0.478													C	103797801	T	C	103797801	3	2	101	1	0	0	0	0	1	0	0	0	11660	1783	62	4	294	4	PDGFD	11	103797801	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	25863320	103797801	31208715	38	6759											
CD163	9332	broad.mit.edu	37	12	7639374	7639374	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:7639374G>A	uc001qsz.3	-	9	2307	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	CD163_uc001qta.3_Missense_Mutation_p.R727C|CD163_uc009zfw.2_Missense_Mutation_p.R760C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	727	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						CCAGCACAGCGACCTCCTCCA	0.458													A	7639374	G	A	7639374	3	1	101	1	0	0	0	0	1	0	0	0	2967	1058	37	2	1319	2	CD163	12	7639374	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		7639374	126212521	39	6760											
GUCY2C	2984	broad.mit.edu	37	12	14840978	14840978	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:14840978G>A	uc001rcd.3	-	1	374	c.237C>T	c.(235-237)aaC>aaT	p.N79N	GUCY2C_uc009zhz.2_Silent_p.N79N	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	79					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGAAAGTAGCGTTCACAGTCA	0.433													A	14840978	G	A	14840978	2	1	101	1	0	0	0	0	0	0	0	1	6896	1136	40	1		1	GUCY2C	12	14840978	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	7201604	14840978	119010917	40	6761											
RERGL	79785	broad.mit.edu	37	12	18237578	18237578	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:18237578G>T	uc001rdq.3	-	4	402	c.208C>A	c.(208-210)Ctc>Atc	p.L70I		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	70	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TCACTTGTGAGGGAGAATTTT	0.383													T	18237578	G	T	18237578	3	4	101	1	0	0	0	0	1	0	0	0	13233	1000	35	5	417	5	RERGL	12	18237578	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	3396600	18237578	115614317	41	6762											
C12orf40	283461	broad.mit.edu	37	12	40114778	40114778	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114778A>G	uc001rmc.3	+	12	1851	c.1684A>G	c.(1684-1686)Aat>Gat	p.N562D	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	562								p.N562D(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGTGAAAAATAATACAGATCA	0.393													G	40114778	A	G	40114778	3	3	101	1	0	0	0	0	1	0	0	0	1686	362	13	4	1734	4	C12orf40	12	40114778	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	21877200	40114778	93737117	42	6763			2	22		3	3	206	A		1.259869e-07
C12orf40	283461	broad.mit.edu	37	12	40114932	40114932	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114932A>G	uc001rmc.3	+	12	2005	c.1838A>G	c.(1837-1839)cAg>cGg	p.Q613R	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	613										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GTTGCCATACAGTGTGATCTA	0.408													G	40114932	A	G	40114932	3	3	101	1	0	0	0	0	1	0	0	0	1686	188	7	4	1888	4	C12orf40	12	40114932	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	154	40114932	93736963	43	6764			2	22		3	3	206	A		1.259869e-07
C12orf40	283461	broad.mit.edu	37	12	40114983	40114983	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114983A>C	uc001rmc.3	+	12	2056	c.1889A>C	c.(1888-1890)aAc>aCc	p.N630T	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	630								p.N630S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCTCTTTGCAACCTTGAAAGG	0.363													C	40114983	A	C	40114983	3	2	101	1	0	0	0	0	1	0	0	0	1686	43	2	5	1939	5	C12orf40	12	40114983	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	51	40114983	93736912	44	6765			2	22		3	3	206	A		1.259869e-07
SLC2A13	114134	broad.mit.edu	37	12	40153845	40153845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40153845C>T	uc010skm.2	-	9	1981	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	C12orf40_uc009zjv.1_Intron	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	644						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ACATCAGAAGCATCATTGTCA	0.383										HNSCC(50;0.14)			T	40153845	C	T	40153845	3	4	101	1	0	0	0	0	1	0	0	0	14542	710	25	3	20	3	SLC2A13	12	40153845	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	38862	40153845	93698050	45	6766											
R3HDM2	22864	broad.mit.edu	37	12	57677642	57677642	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:57677642C>G	uc009zpm.1	-	10	1129	c.1094G>C	c.(1093-1095)aGt>aCt	p.S365T	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.S26T|R3HDM2_uc001snr.2_Missense_Mutation_p.S92T|R3HDM2_uc001sns.2_Missense_Mutation_p.S365T|R3HDM2_uc001snt.2_Missense_Mutation_p.S379T	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	365	Ser-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCGCCTTTACTGCTGCCGAT	0.532													G	57677642	C	G	57677642	3	3	101	1	0	0	0	0	1	0	0	0	12888	565	20	5	1884	5	R3HDM2	12	57677642	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	17523797	57677642	76174253	46	6767											
PTPRR	5801	broad.mit.edu	37	12	71286523	71286523	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:71286523G>A	uc001swi.2	-	1	707	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	98					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACCATCCATGGCCAGCAGATT	0.458													A	71286523	G	A	71286523	3	1	101	1	0	0	0	0	1	0	0	0	12810	1203	42	3	1732	3	PTPRR	12	71286523	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	13608881	71286523	62565372	47	6768											
MYF5	4617	broad.mit.edu	37	12	81110965	81110965	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:81110965G>A	uc001szg.2	+	0	258	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	41					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTTCGGAGCGCACAAAGCAG	0.617													A	81110965	G	A	81110965	2	1	101	1	0	0	0	0	0	0	0	1	10027	1074	38	1		1	MYF5	12	81110965	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	9824442	81110965	52740930	48	6769											
ALX1	8092	broad.mit.edu	37	12	85695019	85695019	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:85695019G>A	uc001tae.4	+	3	751	c.747G>A	c.(745-747)atG>atA	p.M249I		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	249					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCTCCTGTATGACACCTTATT	0.453													A	85695019	G	A	85695019	3	1	101	1	0	0	0	0	1	0	0	0	556	1290	45	3	761	3	ALX1	12	85695019	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	4584054	85695019	48156876	49	6770											
HAL	3034	broad.mit.edu	37	12	96389510	96389510	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:96389510C>T	uc001tem.1	-	1	476	c.179G>A	c.(178-180)gGc>gAc	p.G60D	HAL_uc010sux.1_Missense_Mutation_p.G60D|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	60					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CAGGCCCAGGCCCTTGCACCG	0.642													T	96389510	C	T	96389510	3	4	101	1	0	0	0	0	1	0	0	0	6947	739	26	3	1874	3	HAL	12	96389510	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	10694491	96389510	37462385	50	6771											
KL	9365	broad.mit.edu	37	13	33629339	33629339	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr13:33629339T>C	uc001uus.3	+	2	1494	c.1486T>C	c.(1486-1488)Ttc>Ctc	p.F496L	KL_uc001uur.1_Missense_Mutation_p.F189L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	496	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCAGCCTTGTTCTACCAAAA	0.463													C	33629339	T	C	33629339	3	2	101	1	0	0	0	0	1	0	0	0	8331	1725	60	4	1496	4	KL	13	33629339	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08		33629339	81540539	51	6772											
MYO16	23026	broad.mit.edu	37	13	109859183	109859183	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr13:109859183G>A	uc010agk.2	+	34	6264	c.5642G>A	c.(5641-5643)tGa>tAa	p.*1881*	MYO16_uc001vqt.1_Silent_p.*1859*	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	0					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACCACCATTTGATGTGGCCTG	0.572													A	109859183	G	A	109859183	2	1	101	1	0	0	0	0	0	0	0	1	10064	1285	45	3		3	MYO16	13	109859183	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	76229844	109859183	5310695	52	6773											
OR5AU1	390445	broad.mit.edu	37	14	21623219	21623219	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:21623219G>A	uc010tlp.2	-	0	966	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAACTGTGCGGTCCTGGGTCA	0.493													A	21623219	G	A	21623219	2	1	101	1	0	0	0	0	0	0	0	1	11147	1252	44	3		3	OR5AU1	14	21623219	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		21623219	85726321	53	6774											
HEATR5A	25938	broad.mit.edu	37	14	31782317	31782317	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:31782317C>T	uc001wrf.4	-	27	4483	c.4298G>A	c.(4297-4299)aGa>aAa	p.R1433K	HEATR5A_uc010ami.3_Missense_Mutation_p.R1038K	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1427							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGATCCATTTCTGATACCGTC	0.398													T	31782317	C	T	31782317	3	4	101	1	0	0	0	0	1	0	0	0	7031	913	32	3	1878	3	HEATR5A	14	31782317	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	10159098	31782317	75567223	54	6775											
SRP54	6729	broad.mit.edu	37	14	35470222	35470222	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:35470222T>C	uc001wso.3	+	3	602	c.251T>C	c.(250-252)gTg>gCg	p.V84A	SRP54_uc010tpp.2_Missense_Mutation_p.V35A|SRP54_uc010tpq.2_Missense_Mutation_p.V20A	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	84	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AAAGAACTTGTGAAGGTAAAA	0.313													C	35470222	T	C	35470222	3	2	101	1	0	0	0	0	1	0	0	0	15154	1696	59	4	261	4	SRP54	14	35470222	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	3687905	35470222	71879318	55	6776											
SPINT1	6692	broad.mit.edu	37	15	41137192	41137192	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr15:41137192G>A	uc001zna.3	+	1	644	c.440G>A	c.(439-441)cGc>cAc	p.R147H	SPINT1_uc001znb.3_Missense_Mutation_p.R147H|SPINT1_uc001znc.3_Missense_Mutation_p.R147H|SPINT1_uc010ucs.2_Missense_Mutation_p.R147H	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	147						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAAGTGTACCGCTCCTACCGC	0.582													A	41137192	G	A	41137192	3	1	101	1	0	0	0	0	1	0	0	0	15067	1087	38	1	442	1	SPINT1	15	41137192	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		41137192	61394200	56	6777											
TPSAB1	7177	broad.mit.edu	37	16	1291199	1291199	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:1291199A>G	uc002ckz.3	+	2	159	c.107A>G	c.(106-108)gAg>gGg	p.E36G	TPSAB1_uc010uux.2_5'UTR	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	36	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GGGGGTCAGGAGGCCCCCAGG	0.711													G	1291199	A	G	1291199	3	3	101	1	0	0	0	0	1	0	0	0	16420	304	11	4	113	4	TPSAB1	16	1291199	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08		1291199	89063554	57	6778											
MYH11	4629	broad.mit.edu	37	16	15813552	15813552	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:15813552G>C	uc002ddx.3	-	35	5100	c.4993C>G	c.(4993-4995)Caa>Gaa	p.Q1665E	MYH11_uc002ddv.3_Missense_Mutation_p.Q1665E|MYH11_uc002ddw.3_Missense_Mutation_p.Q1658E|MYH11_uc002ddy.3_Missense_Mutation_p.Q1658E|MYH11_uc010bvg.3_Missense_Mutation_p.Q1490E|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.Q364E|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1658					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGCTCTCTTTGAAAGTCCTTC	0.517			T	CBFB	AML								C	15813552	G	C	15813552	3	2	101	1	0	0	0	0	1	0	0	0	10031	1299	45	5	1009	5	MYH11	16	15813552	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	14522353	15813552	74541201	58	6779											
SMG1	23049	broad.mit.edu	37	16	18830977	18830977	+	Splice_Site	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:18830977C>T	uc002dfm.3	-	56	10105	c.9742_splice	c.e56-1	p.E3248_splice	SMG1_uc010bwb.3_Splice_Site_p.E3108_splice|SMG1_uc010bwa.3_Splice_Site_p.E1979_splice	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3248					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGCTTCTCCTATAAAAGCC	0.413													T	18830977	C	T	18830977	5	4	101	1	0	0	0	0	0	0	1	0	14795	695	24	3	1276	3	SMG1	16	18830977	Splice_Site	SNP	C	TCGA-06-6391-01A-11D-1696-08	3017425	18830977	71523776	59	6780											
DNAH3	55567	broad.mit.edu	37	16	21123036	21123036	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:21123036G>A	uc010vbe.2	-	13	2010	c.2010C>T	c.(2008-2010)gcC>gcT	p.A670A	DNAH3_uc002die.2_Silent_p.A610A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	670	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATGATTTAGGGCCGTAGCAT	0.418													A	21123036	G	A	21123036	2	1	101	1	0	0	0	0	0	0	0	1	4603	1219	43	3		3	DNAH3	16	21123036	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	2292059	21123036	69231717	60	6781											
PRKCB	5579	broad.mit.edu	37	16	24166173	24166173	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:24166173A>G	uc002dmd.3	+	9	1431	c.1234A>G	c.(1234-1236)Acc>Gcc	p.T412A	PRKCB_uc002dme.3_Missense_Mutation_p.T412A	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	412	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTGCTTCCAGACCATGGTAAC	0.582													G	24166173	A	G	24166173	3	3	101	1	0	0	0	0	1	0	0	0	12508	275	10	4	1272	4	PRKCB	16	24166173	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	3043137	24166173	66188580	61	6782											
OR3A2	4995	broad.mit.edu	37	17	3181702	3181702	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:3181702G>C	uc002fvg.3	-	0	567	c.528C>G	c.(526-528)aaC>aaG	p.N176K		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	176					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GGCCACAGAAGTTGAGCGTGG	0.567													C	3181702	G	C	3181702	3	2	101	1	0	0	0	0	1	0	0	0	11038	1020	36	5	441	5	OR3A2	17	3181702	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		3181702	78013508	62	6783											
KRT40	125115	broad.mit.edu	37	17	39140113	39140113	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:39140113C>T	uc010cxh.1	-	2	574	c.413G>A	c.(412-414)cGt>cAt	p.R138H	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	138	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.R138P(2)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTGAAGTAACGCTGATAATC	0.483													T	39140113	C	T	39140113	3	4	101	1	0	0	0	0	1	0	0	0	8478	536	19	1	910	1	KRT40	17	39140113	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	35958411	39140113	42055097	63	6784											
SERPINB3	6318	broad.mit.edu	37	18	61309010	61309010	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr18:61309010G>A	uc002ljf.3	-	3	421	c.335C>T	c.(334-336)aCg>aTg	p.T112M	SERPINB3_uc002lje.3_Missense_Mutation_p.T112M|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	112					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.T112T(2)|p.T112M(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						AAATTGATACGTCTTTTCTCC	0.423													A	61309010	G	A	61309010	3	1	101	1	0	0	0	0	1	0	0	0	14102	1145	40	1		1	SERPINB3	18	61309010	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		61309010	16768238	64	6785											
BEST2	54831	broad.mit.edu	37	19	12863444	12863444	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:12863444G>A	uc002mux.3	+	0	38	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	13					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGAACGCCCGCTTCGGTGGC	0.657													A	12863444	G	A	12863444	3	1	101	1	0	0	0	0	1	0	0	0	1405	1087	38	1	40	1	BEST2	19	12863444	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		12863444	46265539	65	6786											
SLC35E1	79939	broad.mit.edu	37	19	16664592	16664592	+	Silent	SNP	G	G	A	rs139815009		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:16664592G>A	uc010xph.2	-	5	1149	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	MED26_uc002nee.2_Non-coding_Transcript	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA.	377					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GATAGTCCCCGTGCTGGGGGA	0.582													A	16664592	G	A	16664592	2	1	101	1	0	0	0	0	0	0	0	1	14584	1136	40	1		1	SLC35E1	19	16664592	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	3801148	16664592	42464391	66	6787											
FCGBP	8857	broad.mit.edu	37	19	40411954	40411954	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:40411954T>C	uc002omp.4	-	6	3682	c.3674A>G	c.(3673-3675)gAg>gGg	p.E1225G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1225	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGGAGGACTCACAGGACAC	0.677													C	40411954	T	C	40411954	3	2	101	1	0	0	0	0	1	0	0	0	5778	1551	54	4	12663	4	FCGBP	19	40411954	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	23747362	40411954	18717029	67	6788											
CYP2B6	1555	broad.mit.edu	37	19	41515193	41515193	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:41515193C>T	uc002opr.1	+	4	722	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	239					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CAAAAACCTGCAGGAAATCAA	0.522													T	41515193	C	T	41515193	4	4	101	1	0	0	0	0	0	1	0	0	4164	711	25	3	733	3	CYP2B6	19	41515193	Nonsense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	1103239	41515193	17613790	68	6789											
CASS4	57091	broad.mit.edu	37	20	55021057	55021057	+	Silent	SNP	G	G	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr20:55021057G>A	uc002xxp.2	+	4	786	c.561_splice	c.e4+1	p.K187_splice	CASS4_uc002xxq.4_Splice_Site_p.K187_splice|CASS4_uc010zze.1_Splice_Site_p.K133_splice|CASS4_uc002xxr.2_Splice_Site_p.K187_splice|CASS4_uc010gio.2_Splice_Site_p.K187_splice	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	187					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGGTCCTGAAGGTGAGCCTTG	0.622													A	55021057	G	A	55021057	2	1	101	1	0	0	0	0	0	0	0	1	2683	1014	35	3		3	CASS4	20	55021057	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		55021057	8004463	69	6790											
CDKL5	6792	broad.mit.edu	37	X	18622176	18622176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:18622176C>G	uc004cym.3	+	11	1385	c.1132C>G	c.(1132-1134)Cca>Gca	p.P378A	CDKL5_uc004cyn.3_Missense_Mutation_p.P378A|CDKL5_uc022btn.1_Missense_Mutation_p.P369A	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	378					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TAGTCTTAGTCCACTGCACAC	0.522													G	18622176	C	G	18622176	3	3	101	1	0	0	0	0	1	0	0	0	3157	855	30	5	1174	5	CDKL5	23	18622176	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		18622176	136648384	70	6791											
PHEX	5251	broad.mit.edu	37	X	22051086	22051086	+	Translation_Start_Site	SNP	A	A	T			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:22051086A>T	uc004dah.3	+	0					PHEX_uc011mjr.2_5'UTR	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.						biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AACCACGAAAAGTGACTTTCT	0.502													T	22051086	A	T	22051086	1	4	101	1	0	0	0	0	0	0	0	0	11819	87	3	5		5	PHEX	23	22051086	Translation_Start_Site	SNP	A	TCGA-06-6391-01A-11D-1696-08	3428910	22051086	133219474	71	6792											
DCAF8L1	139425	broad.mit.edu	37	X	27998447	27998447	+	Silent	SNP	G	G	C			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:27998447G>C	uc004dbx.1	-	0	1120	c.1005C>G	c.(1003-1005)gtC>gtG	p.V335V		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	335								p.V335V(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TATACAGTCCGACTTTCTTAT	0.418													C	27998447	G	C	27998447	2	2	101	1	0	0	0	0	0	0	0	1	4277	1045	37	5		5	DCAF8L1	23	27998447	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	5947361	27998447	127272113	72	6793											
CXorf22	170063	broad.mit.edu	37	X	35966473	35966473	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:35966473T>A	uc004ddj.3	+	3	626	c.560T>A	c.(559-561)aTt>aAt	p.I187N	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	187										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCCATCCTCATTTTTCCAACT	0.403													A	35966473	T	A	35966473	3	1	101	1	0	0	0	0	1	0	0	0	4102	1493	52	5	574	5	CXorf22	23	35966473	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	7968026	35966473	119304087	73	6794											
OTC	5009	broad.mit.edu	37	X	38260563	38260563	+	Missense_Mutation	SNP	G	G	C	rs68026851		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:38260563G>C	uc004def.4	+	4	636	c.422G>C	c.(421-423)cGa>cCa	p.R141P		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	141			R -> P (in OTCD).|R -> Q (in OTCD; activity is 100-fold lower; most common point mutation).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GTATTGGCTCGAGTGTATAAA	0.378													C	38260563	G	C	38260563	3	2	101	1	0	0	0	0	1	0	0	0	11301	1058	37	5	440	5	OTC	23	38260563	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	2294090	38260563	117009997	74	6795											
MAOB	4129	broad.mit.edu	37	X	43626865	43626865	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:43626865C>G	uc004dfz.4	-	15	1587	c.1411_splice	c.e15-1	p.D471_splice	MAOB_uc011mkx.2_Splice_Site|MAOB_uc011mky.2_Splice_Site_p.D455_splice	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	471					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GCAGGGACATCCTAGGTTCAG	0.493													G	43626865	C	G	43626865	3	3	101	1	0	0	0	0	1	0	0	0	9226	869	30	5	155	5	MAOB	23	43626865	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	5366302	43626865	111643695	75	6796											
ATRX	546	broad.mit.edu	37	X	76938530	76938530	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:76938530C>A	uc004ecp.4	-	8	2450	c.2218G>T	c.(2218-2220)Gag>Tag	p.E740*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E702*|ATRX_uc004eco.4_Nonsense_Mutation_p.E525*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E672*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E711*|ATRX_uc010nly.1_Nonsense_Mutation_p.E685*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	740			E -> G (in dbSNP:rs1051680).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGCTCACCTCTTTGAGGATT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938530	C	A	76938530	4	1	101	1	0	0	0	0	0	1	0	0	1208	922	32	5	5368	5	ATRX	23	76938530	Nonsense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	33311665	76938530	78332030	76	6797											
AGRN	375790	broad.mit.edu	37	1	985841	985841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:985841C>T	uc001ack.2	+	28	5061	c.5011C>T	c.(5011-5013)Cga>Tga	p.R1671*		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1671	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTTCCTGGCACGAGGCCCCAG	0.677													T	985841	C	T	985841	4	4	102	1	0	0	0	0	0	1	0	0	397	528	19	1	5125	1	AGRN	1	985841	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		985841	248264780	1	6798											
ARHGEF11	9826	broad.mit.edu	37	1	156917716	156917716	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:156917716G>A	uc001fqo.3	-	23	3106	c.2066C>T	c.(2065-2067)aCa>aTa	p.T689I	ARHGEF11_uc010phu.2_Missense_Mutation_p.T105I|ARHGEF11_uc001fqn.3_Missense_Mutation_p.T729I	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	689					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGGTATCTGTGCAGAACCC	0.562													A	156917716	G	A	156917716	3	1	102	1	0	0	0	0	1	0	0	0	896	1377	48	3	2570	3	ARHGEF11	1	156917716	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	155931875	156917716	92332905	2	6799											
OBSCN	84033	broad.mit.edu	37	1	228494214	228494214	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:228494214G>A	uc009xez.1	+	43	11845	c.11801G>A	c.(11800-11802)cGc>cAc	p.R3934H	OBSCN_uc001hsn.3_Missense_Mutation_p.R3934H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3934	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCAATGGGCGCCGGGAGCCA	0.652													A	228494214	G	A	228494214	3	1	102	1	0	0	0	0	1	0	0	0	10812	1087	38	1	11971	1	OBSCN	1	228494214	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	71576498	228494214	20756407	3	6800											
SH3RF3	344558	broad.mit.edu	37	2	110015136	110015136	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr2:110015136G>A	uc010ywt.1	+	3	1036	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	346							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTCTGACTCCGGCGCTGTGGC	0.602													A	110015136	G	A	110015136	3	1	102	1	0	0	0	0	1	0	0	0	14260	1116	39	2	1050	2	SH3RF3	2	110015136	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		110015136	133184237	4	6801											
TMEM163	81615	broad.mit.edu	37	2	135470799	135470799	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr2:135470799A>G	uc002ttx.3	-	1	359	c.293T>C	c.(292-294)gTc>gCc	p.V98A	TMEM163_uc002tty.3_Non-coding_Transcript	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	98						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GGCCAGGGTGACAATGATGGA	0.517													G	135470799	A	G	135470799	3	3	102	1	0	0	0	0	1	0	0	0	16075	275	10	4	604	4	TMEM163	2	135470799	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08	25455663	135470799	107728574	5	6802											
PROS1	5627	broad.mit.edu	37	3	93646100	93646100	+	Silent	SNP	C	C	T	rs6121	by1000genomes	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:93646100C>T	uc003drb.4	-	1	569	c.228G>A	c.(226-228)ccG>ccA	p.P76P	PROS1_uc010hoo.3_5'UTR|PROS1_uc003dqz.4_5'UTR	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	76	Gla.		P -> L.		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.D75Y(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)	TTACCGTTTCCGGGTCATTTT	0.388													T	93646100	C	T	93646100	2	4	102	1	0	0	0	0	0	0	0	1	12558	639	23	2		2	PROS1	3	93646100	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08		93646100	104376330	6	6803											
TNIK	23043	broad.mit.edu	37	3	170819385	170819385	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:170819385C>T	uc003fhh.2	-	21	2789	c.2444G>A	c.(2443-2445)cGg>cAg	p.R815Q	TNIK_uc003fhi.2_Missense_Mutation_p.R760Q|TNIK_uc003fhj.2_Missense_Mutation_p.R786Q|TNIK_uc003fhk.2_Missense_Mutation_p.R807Q|TNIK_uc003fhl.2_Missense_Mutation_p.R731Q|TNIK_uc003fhm.2_Missense_Mutation_p.R752Q|TNIK_uc003fhn.2_Missense_Mutation_p.R778Q|TNIK_uc003fho.2_Missense_Mutation_p.R723Q|TNIK_uc003fhg.2_5'UTR	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	815	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCTTCAATCCGGAGTTCTCT	0.453													T	170819385	C	T	170819385	3	4	102	1	0	0	0	0	1	0	0	0	16310	652	23	2	1686	2	TNIK	3	170819385	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	77173285	170819385	27203045	7	6804											
ARAP2	116984	broad.mit.edu	37	4	36085016	36085016	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:36085016C>T	uc003gsq.2	-	28	4820	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1494	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTCTTTTTCACTCCACGAT	0.313													T	36085016	C	T	36085016	2	4	102	1	0	0	0	0	0	0	0	1	839	813	29	3		3	ARAP2	4	36085016	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08		36085016	155069260	8	6805											
FRAS1	80144	broad.mit.edu	37	4	79204019	79204019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:79204019C>T	uc003hlb.2	+	11	1593	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	FRAS1_uc003hkw.3_Nonsense_Mutation_p.R385*|FRAS1_uc003hky.1_Nonsense_Mutation_p.R89*|FRAS1_uc003hkz.3_Nonsense_Mutation_p.R89*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	385	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R385R(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						GTGTGAGTGCCGAGGGGCTCA	0.537													T	79204019	C	T	79204019	4	4	102	1	0	0	0	0	0	1	0	0	6042	644	23	2	1199	2	FRAS1	4	79204019	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	43119003	79204019	111950257	9	6806											
HPGD	3248	broad.mit.edu	37	4	175439163	175439163	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:175439163T>A	uc003itu.2	-	2	473	c.283A>T	c.(283-285)Aat>Tat	p.N95Y	HPGD_uc003itv.2_Missense_Mutation_p.N95Y|HPGD_uc011ckf.1_Intron|HPGD_uc010irq.2_Missense_Mutation_p.N95Y|HPGD_uc011ckg.1_Intron|HPGD_uc011ckh.1_5'UTR	NM_000860	NP_000851	P15428	PGDH_HUMAN	Homo sapiens hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD), transcript variant 1, mRNA.	95					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	TTCTCATTATTCACTCCAGCA	0.279													A	175439163	T	A	175439163	3	1	102	1	0	0	0	0	1	0	0	0	7334	1783	62	5	537	5	HPGD	4	175439163	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	96235144	175439163	15715113	10	6807											
PLCXD3	345557	broad.mit.edu	37	5	41382349	41382349	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr5:41382349A>G	uc003jmm.1	-	1	493	c.391T>C	c.(391-393)Ttc>Ctc	p.F131L		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	131	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGTGAGGAATGCATTGATC	0.433													G	41382349	A	G	41382349	3	3	102	1	0	0	0	0	1	0	0	0	12043	101	4	4	582	4	PLCXD3	5	41382349	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08		41382349	139532911	11	6808											
RSPO3	84870	broad.mit.edu	37	6	127469958	127469958	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:127469958G>A	uc003qas.1	+	1	553	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	RSPO3_uc003qar.3_Missense_Mutation_p.R88Q	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	88						extracellular region	heparin binding	p.R88*(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TATGGAACTCGATATCCAGAT	0.363													A	127469958	G	A	127469958	3	1	102	1	0	0	0	0	1	0	0	0	13711	1058	37	2	269	2	RSPO3	6	127469958	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		127469958	43645109	12	6809											
ZBTB2	57621	broad.mit.edu	37	6	151687542	151687542	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:151687542G>T	uc003qoh.3	-	2	794	c.659C>A	c.(658-660)aCc>aAc	p.T220N		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTCCAGATTGGTCTCCTCCCC	0.552													T	151687542	G	T	151687542	3	4	102	1	0	0	0	0	1	0	0	0	17525	1261	44	5	889	5	ZBTB2	6	151687542	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	24217584	151687542	19427525	13	6810											
MACC1	346389	broad.mit.edu	37	7	20180649	20180649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:20180649C>A	uc003sus.4	-	6	2788	c.2479G>T	c.(2479-2481)Gaa>Taa	p.E827*	MACC1_uc010kug.3_Nonsense_Mutation_p.E827*	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	827					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAGTTAATTCTCTCCAGTGT	0.383													A	20180649	C	A	20180649	4	1	102	1	0	0	0	0	0	1	0	0	9143	922	32	5	83	5	MACC1	7	20180649	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		20180649	138958014	14	6811											
EGFR	1956	broad.mit.edu	37	7	55221763	55221763	+	Silent	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:55221763C>G	uc003tqk.3	+	6	1053	c.807C>G	c.(805-807)ctC>ctG	p.L269L	EGFR_uc003tqh.3_Silent_p.L269L|EGFR_uc003tqi.3_Silent_p.L269L|EGFR_uc003tqj.3_Silent_p.L269L|EGFR_uc022adm.1_Silent_p.L269L|EGFR_uc010kzg.2_Silent_p.L224L|EGFR_uc022adn.1_Silent_p.L224L|EGFR_uc011kco.2_Silent_p.L216L|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	269					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACTCATGCTCTACAACCCCA	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55221763	C	G	55221763	2	3	102	1	0	0	0	0	0	0	0	1	4967	900	32	5		5	EGFR	7	55221763	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	35041114	55221763	103916900	15	6812											
EPHA1	2041	broad.mit.edu	37	7	143097029	143097029	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:143097029C>T	uc003wcz.3	-	3	637	c.550G>A	c.(550-552)Gct>Act	p.A184T		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	184						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGTGGAAAGCGAGGTAGAGG	0.617													T	143097029	C	T	143097029	3	4	102	1	0	0	0	0	1	0	0	0	5165	768	27	1	2440	1	EPHA1	7	143097029	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	87875266	143097029	16041634	16	6813											
BNC2	54796	broad.mit.edu	37	9	16437497	16437497	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:16437497C>T	uc003zml.3	-	5	835	c.695G>A	c.(694-696)cGc>cAc	p.R232H	BNC2_uc011lmw.2_Missense_Mutation_p.R137H|BNC2_uc003zmm.3_Missense_Mutation_p.R190H|BNC2_uc003zmq.1_Missense_Mutation_p.R246H|BNC2_uc003zmr.1_Missense_Mutation_p.R269H|BNC2_uc003zmp.1_Missense_Mutation_p.R260H|BNC2_uc010mij.1_Missense_Mutation_p.R154H|BNC2_uc011lmv.2_Missense_Mutation_p.R58H|BNC2_uc003zmo.1_Missense_Mutation_p.R154H|BNC2_uc003zmj.3_5'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_5'UTR|BNC2_uc003zmn.1_5'UTR	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATGGCCCAGCGGTCCAGCAC	0.448													T	16437497	C	T	16437497	3	4	102	1	0	0	0	0	1	0	0	0	1475	768	27	1	2612	1	BNC2	9	16437497	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		16437497	124775934	17	6814											
NOL8	55035	broad.mit.edu	37	9	95078415	95078415	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:95078415G>C	uc022bjx.1	-	6	829	c.492C>G	c.(490-492)atC>atG	p.I164M	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.I96M	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	164					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GATCATATTTGATGATGTTAC	0.358													C	95078415	G	C	95078415	3	2	102	1	0	0	0	0	1	0	0	0	10527	1280	45	5	3055	5	NOL8	9	95078415	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	78640918	95078415	46135016	18	6815											
KIAA0368	23392	broad.mit.edu	37	9	114145511	114145511	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:114145511C>T	uc004bfe.1	-	35	4317	c.4317G>A	c.(4315-4317)gtG>gtA	p.V1439V		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GAACTTCCGTCACGGTGCTCA	0.483													T	114145511	C	T	114145511	2	4	102	1	0	0	0	0	0	0	0	1	8171	813	29	3		3	KIAA0368	9	114145511	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	19067096	114145511	27067920	19	6816											
DIP2C	22982	broad.mit.edu	37	10	395316	395316	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr10:395316C>T	uc001ifp.3	-	24	3154	c.3064G>A	c.(3064-3066)Ggc>Agc	p.G1022S	DIP2C_uc009xhi.1_Missense_Mutation_p.G408S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1022						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGAAGGTGGCCCCTCTCCATC	0.652													T	395316	C	T	395316	3	4	102	1	0	0	0	0	1	0	0	0	4529	623	22	3	1658	3	DIP2C	10	395316	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		395316	135139431	20	6817											
CALY	50632	broad.mit.edu	37	10	135142374	135142374	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr10:135142374C>T	uc001lmo.2	-	1	278	c.120G>A	c.(118-120)ccG>ccA	p.P40P	ZNF511_uc021qbf.1_Intron	NM_015722	NP_056537	Q9NYX4	CALY_HUMAN	Homo sapiens calcyon neuron-specific vesicular protein (CALY), mRNA.	40					clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding			kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)	CAGGGAGTGGCGGCTGGAGCT	0.637													T	135142374	C	T	135142374	2	4	102	1	0	0	0	0	0	0	0	1	2595	755	27	1		1	CALY	10	135142374	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	134747058	135142374	392373	21	6818											
ANO9	338440	broad.mit.edu	37	11	419726	419726	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:419726G>T	uc001lpi.2	-	19	1875	c.1790C>A	c.(1789-1791)aCc>aAc	p.T597N	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.T290N|ANO9_uc010qvv.1_Missense_Mutation_p.T453N	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	597						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTGCAGCCAGGTCCCTGCACC	0.637													T	419726	G	T	419726	3	4	102	1	0	0	0	0	1	0	0	0	704	1261	44	5	574	5	ANO9	11	419726	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		419726	134586790	22	6819											
CHRNA10	57053	broad.mit.edu	37	11	3688571	3688571	+	Silent	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:3688571G>A	uc001lyf.3	-	3	858	c.786C>T	c.(784-786)gcC>gcT	p.A262A	CHRNA10_uc010qxt.2_Silent_p.A56A|CHRNA10_uc010qxu.2_Silent_p.A56A	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	262					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CGCCTGAGTCGGCAGGCAGGT	0.706													A	3688571	G	A	3688571	2	1	102	1	0	0	0	0	0	0	0	1	3382	1103	39	2		2	CHRNA10	11	3688571	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	3268845	3688571	131317945	23	6820											
OR52E4	390081	broad.mit.edu	37	11	5906315	5906315	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:5906315T>A	uc010qzs.2	+	0	793	c.793T>A	c.(793-795)Ttt>Att	p.F265I	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACACATCGTTTTGGCCAAAA	0.423													A	5906315	T	A	5906315	3	1	102	1	0	0	0	0	1	0	0	0	11116	1841	64	5	795	5	OR52E4	11	5906315	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	2217744	5906315	129100201	24	6821											
OR5L1	219437	broad.mit.edu	37	11	55579782	55579782	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:55579782C>T	uc001nhw.1	+	0	840	c.840C>T	c.(838-840)gtC>gtT	p.V280V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTACACAGTCGTGATTCCTA	0.453													T	55579782	C	T	55579782	2	4	102	1	0	0	0	0	0	0	0	1	11170	871	31	2		2	OR5L1	11	55579782	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	49673467	55579782	79426734	25	6822											
PACS1	55690	broad.mit.edu	37	11	65977846	65977846	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:65977846T>C	uc001oha.2	+	2	592	c.458T>C	c.(457-459)aTt>aCt	p.I153T	PACS1_uc001ogz.1_Missense_Mutation_p.I153T	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	153					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						TCAAAAAGAATTCTTCGCTCC	0.502													C	65977846	T	C	65977846	3	2	102	1	0	0	0	0	1	0	0	0	11372	1493	52	4	468	4	PACS1	11	65977846	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	10398064	65977846	69028670	26	6823											
KIAA1377	57562	broad.mit.edu	37	11	101818772	101818772	+	Silent	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:101818772A>G	uc001pgm.3	+	3	675	c.405A>G	c.(403-405)aaA>aaG	p.K135K	KIAA1377_uc001pgn.3_Silent_p.K91K|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	135							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTTCCCGAAAACCAGTTCCTC	0.343													G	101818772	A	G	101818772	2	3	102	1	0	0	0	0	0	0	0	1	8227	40	2	4		4	KIAA1377	11	101818772	Silent	SNP	A	TCGA-06-6693-01A-11D-1845-08	35840926	101818772	33187744	27	6824											
OR6M1	390261	broad.mit.edu	37	11	123676994	123676994	+	Nonsense_Mutation	SNP	G	G	A	rs150135307		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:123676994G>A	uc010rzz.2	-	0	64	c.64C>T	c.(64-66)Cga>Tga	p.R22*		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		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;0.028)		AGAGATATTCGAATCTCCAGG	0.458													A	123676994	G	A	123676994	4	1	102	1	0	0	0	0	0	1	0	0	11205	1066	37	2	880	2	OR6M1	11	123676994	Nonsense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	21858222	123676994	11329522	28	6825											
PPP1R12A	4659	broad.mit.edu	37	12	80191152	80191152	+	Silent	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr12:80191152T>C	uc001syz.3	-	15	2382	c.2115A>G	c.(2113-2115)caA>caG	p.Q705Q	PPP1R12A_uc010suc.2_Silent_p.Q618Q|PPP1R12A_uc001sza.3_Silent_p.Q649Q|PPP1R12A_uc010sud.2_Silent_p.Q705Q|PPP1R12A_uc001szb.3_Silent_p.Q705Q|PPP1R12A_uc001szc.2_Silent_p.Q646Q	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	705	Interaction with ROCK2.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCTCAGCTTCTTGAAGATCAG	0.318													C	80191152	T	C	80191152	2	2	102	1	0	0	0	0	0	0	0	1	12354	1606	56	4		4	PPP1R12A	12	80191152	Silent	SNP	T	TCGA-06-6693-01A-11D-1845-08		80191152	53660743	29	6826											
CLEC14A	161198	broad.mit.edu	37	14	38724093	38724093	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:38724093T>A	uc001wum.1	-	0	1482	c.1135A>T	c.(1135-1137)Aag>Tag	p.K379*		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	379						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAATTAAACTTGGAAATCACG	0.502													A	38724093	T	A	38724093	4	1	102	1	0	0	0	0	0	1	0	0	3499	1821	63	5	341	5	CLEC14A	14	38724093	Nonsense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08		38724093	68625447	30	6827											
CLEC14A	161198	broad.mit.edu	37	14	38724649	38724649	+	Silent	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:38724649G>A	uc001wum.1	-	0	926	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	193						integral to membrane	sugar binding	p.R193R(2)|p.R193C(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGAAGGGCGCGCGATAGCTCA	0.647													A	38724649	G	A	38724649	2	1	102	1	0	0	0	0	0	0	0	1	3499	1074	38	1		1	CLEC14A	14	38724649	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	556	38724649	68624891	31	6828											
NIN	51199	broad.mit.edu	37	14	51227078	51227078	+	Splice_Site	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:51227078C>G	uc001wyi.3	-	17	2088	c.1897_splice	c.e17-1	p.V633_splice	NIN_uc001wyj.3_Splice_Site|NIN_uc001wym.2_Splice_Site_p.V633_splice|NIN_uc001wyk.3_Splice_Site_p.V633_splice|NIN_uc001wyo.3_Splice_Site_p.V633_splice	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	633					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AATGGCGCACCTGAAGGCACA	0.453			T	PDGFRB	MPD								G	51227078	C	G	51227078	5	3	102	1	0	0	0	0	0	0	1	0	10417	695	24	5	4713	5	NIN	14	51227078	Splice_Site	SNP	C	TCGA-06-6693-01A-11D-1845-08	12502429	51227078	56122462	32	6829											
SIX4	51804	broad.mit.edu	37	14	61180418	61180418	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:61180418G>C	uc001xfc.3	-	2	2113	c.2053C>G	c.(2053-2055)Ctt>Gtt	p.L685V		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	685						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATTTCCCCAAGGGCAGCCTGA	0.473													C	61180418	G	C	61180418	3	2	102	1	0	0	0	0	1	0	0	0	14349	1000	35	5	296	5	SIX4	14	61180418	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	9953340	61180418	46169122	33	6830											
YY1	7528	broad.mit.edu	37	14	100705804	100705804	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:100705804C>G	uc001ygy.1	+	0	703	c.223C>G	c.(223-225)Cat>Gat	p.H75D		NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	75	Poly-His.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				ccaccaccaccatcaccacca	0.726													G	100705804	C	G	100705804	3	3	102	1	0	0	0	0	1	0	0	0	17504	594	21	5	225	5	YY1	14	100705804	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	39525386	100705804	6643736	34	6831											
BAHD1	22893	broad.mit.edu	37	15	40751318	40751318	+	Missense_Mutation	SNP	C	C	T	rs143744499		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:40751318C>T	uc001zlu.2	+	1	726	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	BAHD1_uc001zlt.2_Missense_Mutation_p.R219W|BAHD1_uc010bbp.1_Missense_Mutation_p.R219W|BAHD1_uc001zlv.2_Missense_Mutation_p.R219W	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	219					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GAGCCAGGAGCGGGAGCTACC	0.642													T	40751318	C	T	40751318	3	4	102	1	0	0	0	0	1	0	0	0	1297	759	27	1	657	1	BAHD1	15	40751318	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		40751318	61780074	35	6832											
VPS13C	54832	broad.mit.edu	37	15	62300907	62300907	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:62300907C>T	uc002agz.3	-	13	1156	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	VPS13C_uc002aha.3_Silent_p.A312A|VPS13C_uc002ahb.2_Silent_p.A355A|VPS13C_uc002ahc.2_Silent_p.A312A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	355					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTATAAGGCGCATTCCTAA	0.289													T	62300907	C	T	62300907	2	4	102	1	0	0	0	0	0	0	0	1	17188	755	27	1		1	VPS13C	15	62300907	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	21549589	62300907	40230485	36	6833											
THSD4	79875	broad.mit.edu	37	15	72037463	72037463	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:72037463T>C	uc002atb.1	+	10	2004	c.1925T>C	c.(1924-1926)tTc>tCc	p.F642S	THSD4_uc002ate.2_Missense_Mutation_p.F282S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	642						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACCCTATTTTCCGCTGTGTG	0.547													C	72037463	T	C	72037463	3	2	102	1	0	0	0	0	1	0	0	0	15875	1783	62	4	1967	4	THSD4	15	72037463	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	9736556	72037463	30493929	37	6834											
LRRK1	79705	broad.mit.edu	37	15	101569415	101569415	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:101569415G>A	uc002bwr.3	+	19	3260	c.2941G>A	c.(2941-2943)Gcc>Acc	p.A981T	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	981					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTTTGAGATCGCCCTGCCCGT	0.592													A	101569415	G	A	101569415	3	1	102	1	0	0	0	0	1	0	0	0	9032	1087	38	1	3015	1	LRRK1	15	101569415	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	29531952	101569415	961977	38	6835											
SRL	6345	broad.mit.edu	37	16	4245578	4245578	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:4245578C>T	uc002cvz.4	-	4	599	c.586G>A	c.(586-588)Gag>Aag	p.E196K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	655	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.I195I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTGCGGTTCTCGATGATGCCT	0.443													T	4245578	C	T	4245578	3	4	102	1	0	0	0	0	1	0	0	0	15149	893	31	2	843	2	SRL	16	4245578	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		4245578	86109175	39	6836											
CETP	1071	broad.mit.edu	37	16	57016107	57016107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:57016107C>T	uc002eki.2	+	13	1336	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	CETP_uc002ekj.2_Nonsense_Mutation_p.Q367*	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	427					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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GAGCTTCCTGCAGTCAATGAT	0.582													T	57016107	C	T	57016107	4	4	102	1	0	0	0	0	0	1	0	0	3277	711	25	3	1333	3	CETP	16	57016107	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	52770529	57016107	33338646	40	6837											
GALNS	2588	broad.mit.edu	37	16	88891241	88891241	+	Silent	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:88891241C>T	uc010cid.3	-	11	1435	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	GALNS_uc002fly.4_Silent_p.A392A|GALNS_uc002flz.4_Silent_p.A75A			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	392			H -> D (in MPS4A).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CGAGGGTGGCCGCCATCAGCG	0.627													T	88891241	C	T	88891241	2	4	102	1	0	0	0	0	0	0	0	1	6206	639	23	2		2	GALNS	16	88891241	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	31875134	88891241	1463512	41	6838											
DNAH2	146754	broad.mit.edu	37	17	7644166	7644166	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:7644166delC	uc002giu.1	+	9	1559	c.1545delC	c.(1543-1545)ctcfs	p.L515fs	DNAH2_uc002git.3_Frame_Shift_Del_p.L597fs|DNAH2_uc010vuk.2_Frame_Shift_Del_p.L515fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	515	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGTGGATCTCTACATGCTGT	0.587													-	7644166	C	-	7644166	7	5	102	1	0	1	0	1	0	0	0	0	4602	900	32	0	1583	0	DNAH2	17	7644166	Frame_Shift_Del	DEL	C	TCGA-06-6693-01A-11D-1845-08		7644166	73551044	42	6839											
CRLF3	51379	broad.mit.edu	37	17	29119557	29119557	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:29119557C>G	uc002hfr.4	-	5	969	c.860G>C	c.(859-861)aGc>aCc	p.S287T	CRLF3_uc010wbr.2_Missense_Mutation_p.S171T	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.	287					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCTTCGACTGCTCAGACTGTA	0.423													G	29119557	C	G	29119557	3	3	102	1	0	0	0	0	1	0	0	0	3888	797	28	5	480	5	CRLF3	17	29119557	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	21475391	29119557	52075653	43	6840											
TMEM106A	113277	broad.mit.edu	37	17	41365143	41365143	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:41365143G>A	uc002idn.1	+	2	320	c.83G>A	c.(82-84)aGc>aAc	p.S28N	TMEM106A_uc010why.1_Intron|TMEM106A_uc010cze.1_Missense_Mutation_p.S28N|TMEM106A_uc010whz.1_Missense_Mutation_p.S28N	NM_145041	NP_659478	Q96A25	T106A_HUMAN	Homo sapiens transmembrane protein 106A (TMEM106A), mRNA.	28						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCCATTGGCAGCAAGGCTGTC	0.547													A	41365143	G	A	41365143	3	1	102	1	0	0	0	0	1	0	0	0	16017	971	34	3	85	3	TMEM106A	17	41365143	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	12245586	41365143	39830067	44	6841											
CSH2	1443	broad.mit.edu	37	17	61949661	61949661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:61949661C>T	uc002jch.3	-	4	594	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Missense_Mutation_p.R65Q	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	160					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CTGCCCAGTCCGGCGGCTGCC	0.547													T	61949661	C	T	61949661	3	4	102	1	0	0	0	0	1	0	0	0	3941	652	23	2	178	2	CSH2	17	61949661	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	20584518	61949661	19245549	45	6842											
PDE4A	5141	broad.mit.edu	37	19	10561526	10561526	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:10561526delC	uc002moj.2	+	5	800	c.692delC	c.(691-693)gccfs	p.A231fs	PDE4A_uc021uow.1_Frame_Shift_Del_p.A209fs|PDE4A_uc002mok.2_Frame_Shift_Del_p.A205fs|PDE4A_uc002mol.2_Frame_Shift_Del_p.A170fs|PDE4A_uc002mom.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	231					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGCAGTTGGCCCGGGAGACT	0.612													-	10561526	C	-	10561526	7	5	102	1	0	1	0	1	0	0	0	0	11639	739	26	0	1101	0	PDE4A	19	10561526	Frame_Shift_Del	DEL	C	TCGA-06-6693-01A-11D-1845-08		10561526	48567457	46	6843											
FAM129C	199786	broad.mit.edu	37	19	17653014	17653014	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:17653014A>G	uc021uqj.1	+	10	1471	c.1333A>G	c.(1333-1335)Agc>Ggc	p.S445G	FAM129C_uc021uqi.1_Missense_Mutation_p.S445G|FAM129C_uc002ngy.4_Missense_Mutation_p.S171G|FAM129C_uc010xpu.2_Missense_Mutation_p.S171G|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Missense_Mutation_p.S171G|FAM129C_uc002nhb.3_Missense_Mutation_p.S44G	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	445										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGCCGAGCGGAGCCGGGGGCG	0.612													G	17653014	A	G	17653014	3	3	102	1	0	0	0	0	1	0	0	0	5438	304	11	4	1375	4	FAM129C	19	17653014	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08	7091488	17653014	41475969	47	6844											
ZNF208	7757	broad.mit.edu	37	19	22155056	22155056	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:22155056C>T	uc021urr.1	-	3	2929	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				TGACAACCAGCTGAAGGCTTT	0.393													T	22155056	C	T	22155056	3	4	102	1	0	0	0	0	1	0	0	0	17763	797	28	3	1066	3	ZNF208	19	22155056	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	4502042	22155056	36973927	48	6845											
ZNF180	7733	broad.mit.edu	37	19	44981361	44981361	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:44981361A>C	uc002ozf.4	-	4	1619	c.1337T>G	c.(1336-1338)tTc>tGc	p.F446C	ZNF180_uc002ozh.4_Missense_Mutation_p.F103C|ZNF180_uc002ozi.4_Missense_Mutation_p.F419C|ZNF180_uc002ozg.4_Missense_Mutation_p.F445C|ZNF180_uc010ejm.3_Missense_Mutation_p.F421C	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTCTGCCTGAATGACTTTCC	0.393													C	44981361	A	C	44981361	3	2	102	1	0	0	0	0	1	0	0	0	17745	246	9	5	745	5	ZNF180	19	44981361	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08	22826305	44981361	14147622	49	6846											
TMC2	117532	broad.mit.edu	37	20	2616589	2616589	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:2616589T>A	uc002wgf.1	+	17	2339	c.2324T>A	c.(2323-2325)cTg>cAg	p.L775Q	TMC2_uc002wgg.1_Missense_Mutation_p.L759Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	775						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTACTACCTGAACTCAGTT	0.502													A	2616589	T	A	2616589	3	1	102	1	0	0	0	0	1	0	0	0	15982	1580	55	5	2394	5	TMC2	20	2616589	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08		2616589	60408931	50	6847											
PLTP	5360	broad.mit.edu	37	20	44528299	44528299	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:44528299T>C	uc002xqm.2	-	12	1839	c.1304A>G	c.(1303-1305)aAg>aGg	p.K435R	PLTP_uc002xql.2_Missense_Mutation_p.K327R|PLTP_uc010zxj.2_Missense_Mutation_p.K320R|PLTP_uc002xqq.2_Missense_Mutation_p.K384R|PLTP_uc002xqn.2_Missense_Mutation_p.K415R|PLTP_uc002xqo.2_Missense_Mutation_p.K363R	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	415					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CAGCATGGTCTTCAGAGGGGC	0.602													C	44528299	T	C	44528299	3	2	102	1	0	0	0	0	1	0	0	0	12114	1609	56	4	249	4	PLTP	20	44528299	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	41911710	44528299	18497221	51	6848											
ZGPAT	84619	broad.mit.edu	37	20	62367145	62367145	+	Silent	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:62367145G>A	uc002ygk.3	+	6	1659	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	ZGPAT_uc002ygi.2_Silent_p.A470A|ZGPAT_uc010gkk.2_Silent_p.A47A|ZGPAT_uc010gkl.2_Silent_p.A470A|ZGPAT_uc002ygm.3_Silent_p.A461A|ZGPAT_uc002ygj.2_Silent_p.A470A|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'UTR|ZGPAT_uc002ygp.4_5'UTR	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	490					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ATAGCGTGGCGTCAGCCCAGC	0.692													A	62367145	G	A	62367145	2	1	102	1	0	0	0	0	0	0	0	1	17671	1132	40	1		1	ZGPAT	20	62367145	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	17838846	62367145	658375	52	6849											
UMODL1	89766	broad.mit.edu	37	21	43524008	43524008	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43524008G>C	uc002zag.1	+	8	1330	c.1330G>C	c.(1330-1332)Gac>Cac	p.D444H	UMODL1_uc002zad.1_Missense_Mutation_p.D372H|UMODL1_uc002zae.1_Missense_Mutation_p.D372H|UMODL1_uc002zaf.1_Missense_Mutation_p.D444H|UMODL1_uc010gow.1_Missense_Mutation_p.D236H|UMODL1_uc002zai.1_Missense_Mutation_p.D95H|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.D95H|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.D189H|C21orf128_uc002zak.2_Silent_p.V75V	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	444	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTGGTGTCTGACTTGTACCG	0.567													C	43524008	G	C	43524008	3	2	102	1	0	0	0	0	1	0	0	0	16977	1290	45	5	1364	5	UMODL1	21	43524008	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		43524008	4605887	53	6850											
UMODL1	89766	broad.mit.edu	37	21	43524114	43524114	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43524114G>C	uc002zag.1	+	8	1436	c.1436G>C	c.(1435-1437)gGc>gCc	p.G479A	UMODL1_uc002zad.1_Missense_Mutation_p.G407A|UMODL1_uc002zae.1_Missense_Mutation_p.G407A|UMODL1_uc002zaf.1_Missense_Mutation_p.G479A|UMODL1_uc010gow.1_Missense_Mutation_p.G271A|UMODL1_uc002zai.1_Missense_Mutation_p.G130A|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.G130A|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.G224A|C21orf128_uc002zak.2_Missense_Mutation_p.A40G	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	479	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTCCCATGGGCATCTCCACG	0.622													C	43524114	G	C	43524114	3	2	102	1	0	0	0	0	1	0	0	0	16977	1203	42	5	1470	5	UMODL1	21	43524114	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	106	43524114	4605781	54	6851											
TRPM2	7226	broad.mit.edu	37	21	45817635	45817635	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:45817635G>C	uc010gpt.1	+	12	2038	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	TRPM2_uc002zet.1_Missense_Mutation_p.Q646H|TRPM2_uc002zeu.1_Missense_Mutation_p.Q646H|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.Q646H|TRPM2_uc002zex.1_Missense_Mutation_p.Q432H|TRPM2_uc002zey.1_Missense_Mutation_p.Q159H	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	646						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.S645R(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCAGAGCCAGGACTGCATCG	0.627													C	45817635	G	C	45817635	3	2	102	1	0	0	0	0	1	0	0	0	16583	991	35	5	1988	5	TRPM2	21	45817635	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	2293521	45817635	2312260	55	6852											
PHEX	5251	broad.mit.edu	37	X	22132590	22132590	+	Silent	SNP	C	C	G			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:22132590C>G	uc004dah.3	+	10	1391	c.1188C>G	c.(1186-1188)acC>acG	p.T396T	PHEX_uc011mjr.2_Silent_p.T396T|PHEX_uc011mjs.2_Silent_p.T299T	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	396					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCCAGGGGACCACAACTTTGC	0.398													G	22132590	C	G	22132590	2	3	102	1	0	0	0	0	0	0	0	1	11819	581	21	5		5	PHEX	23	22132590	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08		22132590	133137970	56	6853											
DCAF8L1	139425	broad.mit.edu	37	X	27999308	27999308	+	Silent	SNP	G	G	A	rs147579544	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:27999308G>A	uc004dbx.1	-	0	259	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	48										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CACCATCTCCGGTCGATGGCT	0.532													A	27999308	G	A	27999308	2	1	102	1	0	0	0	0	0	0	0	1	4277	1103	39	2		2	DCAF8L1	23	27999308	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	5866718	27999308	127271252	57	6854											
MAGEB16	139604	broad.mit.edu	37	X	35821053	35821053	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:35821053G>A	uc010ngt.1	+	1	1019	c.740G>A	c.(739-741)aGa>aAa	p.R247K	MAGEB16_uc022bus.1_Missense_Mutation_p.R247K	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	247	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGAGAGCCCAGAATGCTCATC	0.493													A	35821053	G	A	35821053	3	1	102	1	0	0	0	0	1	0	0	0	9174	942	33	3	742	3	MAGEB16	23	35821053	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	7821745	35821053	119449507	58	6855											
GPR82	27197	broad.mit.edu	37	X	41587247	41587247	+	Missense_Mutation	SNP	T	T	G	rs144887525		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:41587247T>G	uc022bvd.1	+	0	968	c.968T>G	c.(967-969)cTc>cGc	p.L323R	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Missense_Mutation_p.L323R	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.	323						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTATATAATCTCTTTACAAAG	0.333													G	41587247	T	G	41587247	3	3	102	1	0	0	0	0	1	0	0	0	6712	1551	54	5	970	5	GPR82	23	41587247	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	5766194	41587247	113683313	59	6856											
MAGIX	79917	broad.mit.edu	37	X	49021421	49021421	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:49021421G>A	uc010nin.1	+	3	547	c.500G>A	c.(499-501)cGt>cAt	p.R167H	MAGIX_uc004dmt.2_Intron|MAGIX_uc010nio.1_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.R108H|MAGIX_uc004dmw.2_Missense_Mutation_p.R100H	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	167	PDZ.																CGCTGTGGTCGTTTGGAGGTG	0.622													A	49021421	G	A	49021421	3	1	102	1	0	0	0	0	1	0	0	0	9193	1145	40	1	554	1	MAGIX	23	49021421	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	7434174	49021421	106249139	60	6857											
TNFRSF8	943	broad.mit.edu	37	1	12172043	12172043	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:12172043C>T	uc001atq.3	+	6	987	c.765C>T	c.(763-765)cgC>cgT	p.R255R	TNFRSF8_uc010obc.2_Silent_p.R144R	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	255					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCGGCCGCTGCACGGCCT	0.587													T	12172043	C	T	12172043	2	4	103	1	0	0	0	0	0	0	0	1	16296	784	28	3		3	TNFRSF8	1	12172043	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08		12172043	237078578	1	6858											
LOC440563	440563	broad.mit.edu	37	1	13183578	13183578	+	Nonsense_Mutation	SNP	G	G	A	rs115194400	by1000genomes	TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:13183578G>A	uc010obg.2	-	1	538	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	99						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GCTGCGGATCGTTTCACACCT	0.502													A	13183578	G	A	13183578	4	1	103	1	0	0	0	0	0	1	0	0	8879	1153	40	1	590	1	LOC440563	1	13183578	Nonsense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	1011535	13183578	236067043	2	6859											
EPHA10	284656	broad.mit.edu	37	1	38227194	38227194	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:38227194C>T	uc009vvi.3	-	2	819	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	EPHA10_uc001cbw.4_Missense_Mutation_p.E245K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	245						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTCCCCTTCCGAGTGCGCC	0.736													T	38227194	C	T	38227194	3	4	103	1	0	0	0	0	1	0	0	0	5166	864	30	3	2391	3	EPHA10	1	38227194	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	25043616	38227194	211023427	3	6860											
MACF1	23499	broad.mit.edu	37	1	39924911	39924911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:39924911G>A	uc021olw.1	+	55	16679	c.16679G>A	c.(16678-16680)cGg>cAg	p.R5560Q	MACF1_uc021ols.1_Missense_Mutation_p.R5055Q|MACF1_uc021olt.1_Missense_Mutation_p.R5058Q|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7016					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			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)			GCCTTGGATCGGCTGGAGGAG	0.512													A	39924911	G	A	39924911	3	1	103	1	0	0	0	0	1	0	0	0	9144	1116	39	2	21670	2	MACF1	1	39924911	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	1697717	39924911	209325710	4	6861											
JUN	3725	broad.mit.edu	37	1	59248392	59248392	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:59248392G>A	uc001cze.3	-	0	1394	c.351C>T	c.(349-351)gcC>gcT	p.A117A	LOC100131060_uc001czf.2_5'Flank|LOC100131060_uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	Homo sapiens jun proto-oncogene (JUN), mRNA.	117					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GTTCGGCCAGGGCGCGCACGA	0.697			A		sarcoma								A	59248392	G	A	59248392	2	1	103	1	0	0	0	0	0	0	0	1	7969	1219	43	3		3	JUN	1	59248392	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	19323481	59248392	190002229	5	6862											
CTSS	1520	broad.mit.edu	37	1	150730364	150730364	+	Silent	SNP	G	G	A	rs139535421		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:150730364G>A	uc001evn.3	-	2	480	c.219C>T	c.(217-219)taC>taT	p.Y73Y	CTSS_uc010pcj.2_Silent_p.Y73Y	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	73					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCAGATCGTATGAGTGCA	0.428													A	150730364	G	A	150730364	2	1	103	1	0	0	0	0	0	0	0	1	4041	1140	40	1		1	CTSS	1	150730364	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	91481972	150730364	98520257	6	6863											
FLG	2312	broad.mit.edu	37	1	152285059	152285059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:152285059G>A	uc001ezu.1	-	2	2339	c.2303C>T	c.(2302-2304)gCt>gTt	p.A768V	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	768	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			ATGGTGACCAGCCTGTCCATG	0.562									Ichthyosis				A	152285059	G	A	152285059	3	1	103	1	0	0	0	0	1	0	0	0	5922	971	34	3	9886	3	FLG	1	152285059	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	1554695	152285059	96965562	7	6864											
NUF2	83540	broad.mit.edu	37	1	163315530	163315530	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:163315530G>T	uc001gcq.1	+	10	1170	c.870G>T	c.(868-870)caG>caT	p.Q290H	NUF2_uc001gcr.1_Missense_Mutation_p.Q290H	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	290	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTTCATGTCAGTTGGAAGTGC	0.358													T	163315530	G	T	163315530	3	4	103	1	0	0	0	0	1	0	0	0	10747	1020	36	5	908	5	NUF2	1	163315530	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	11030471	163315530	85935091	8	6865											
HMCN1	83872	broad.mit.edu	37	1	186092310	186092310	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:186092310G>A	uc001grq.1	+	80	12686	c.12457G>A	c.(12457-12459)Gta>Ata	p.V4153I	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4153	Ig-like C2-type 40.				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						GGCAGCCAATGTAGCAGGATC	0.498													A	186092310	G	A	186092310	3	1	103	1	0	0	0	0	1	0	0	0	7220	1377	48	3	12779	3	HMCN1	1	186092310	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	22776780	186092310	63158311	9	6866											
CHML	1122	broad.mit.edu	37	1	241797187	241797187	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:241797187G>A	uc001hzd.3	-	0	2046	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	628					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.P628S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTGGTTCCAGGAGCCTCTGGC	0.418													A	241797187	G	A	241797187	3	1	103	1	0	0	0	0	1	0	0	0	3351	1174	41	3	92	3	CHML	1	241797187	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	55704877	241797187	7453434	10	6867											
FBLN7	129804	broad.mit.edu	37	2	112944813	112944813	+	Silent	SNP	G	G	A	rs140504449		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:112944813G>A	uc002tho.1	+	7	1321	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	FBLN7_uc010fki.1_Silent_p.T304T|FBLN7_uc010fkj.1_Silent_p.T216T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	350					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTGAAGACGCCCATCACGC	0.652													A	112944813	G	A	112944813	2	1	103	1	0	0	0	0	0	0	0	1	5701	1074	38	1		1	FBLN7	2	112944813	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		112944813	130254560	11	6868											
XIRP2	129446	broad.mit.edu	37	2	168103045	168103045	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:168103045C>T	uc002udx.3	+	8	5232	c.5143C>T	c.(5143-5145)Cgt>Tgt	p.R1715C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1540C|XIRP2_uc010fpq.3_Missense_Mutation_p.R1493C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1540					actin cytoskeleton organization	cell junction	actin binding			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						TGATGTCAAACGTACCATTCA	0.338													T	168103045	C	T	168103045	3	4	103	1	0	0	0	0	1	0	0	0	17427	536	19	1	5173	1	XIRP2	2	168103045	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	55158232	168103045	75096328	12	6869											
ABCB11	8647	broad.mit.edu	37	2	169814525	169814525	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:169814525C>T	uc002ueo.1	-	18	2418	c.2292G>A	c.(2290-2292)gtG>gtA	p.V764V	ABCB11_uc010zda.1_Silent_p.V206V|ABCB11_uc010zdb.1_Silent_p.V240V	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	764	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGTCCCGTTCACAGCTGCAC	0.473													T	169814525	C	T	169814525	2	4	103	1	0	0	0	0	0	0	0	1	42	813	29	3		3	ABCB11	2	169814525	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	1711480	169814525	73384848	13	6870											
TRAK2	66008	broad.mit.edu	37	2	202272228	202272229	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:202272228_202272229delAG	uc002uyb.4	-	2	629_630	c.183_184delCT	c.(181-186)ctctttfs	p.L61fs	TRAK2_uc002uyc.2_Frame_Shift_Del_p.L61fs	NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	61						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TCATATAGAAAGAGAGTGTCTA	0.46													-	202272229	AG	-	202272228	7	5	103	1	0	1	0	1	0	0	0	0	16447	72	3	0	2616	0	TRAK2	2	202272228	Frame_Shift_Del	DEL	AG	TCGA-06-6694-01A-12D-1845-08	32457703	202272228	40927145	14	6871											
DES	1674	broad.mit.edu	37	2	220286194	220286194	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:220286194C>T	uc002vll.3	+	5	1242	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	386	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCGCCATCTGCGCGAGTACCA	0.622													T	220286194	C	T	220286194	3	4	103	1	0	0	0	0	1	0	0	0	4449	768	27	1	1178	1	DES	2	220286194	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	18013966	220286194	22913179	15	6872											
SETD5	55209	broad.mit.edu	37	3	9489393	9489393	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:9489393C>T	uc003brt.3	+	14	2241	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	SETD5_uc003brs.1_Silent_p.V583V|SETD5_uc003bru.3_Silent_p.V504V|SETD5_uc003brv.3_Silent_p.V491V|SETD5_uc010hck.3_Silent_p.V84V|SETD5_uc003brx.3_Silent_p.V271V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	602										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAAAACTAGTCCCCAAGCCAC	0.468													T	9489393	C	T	9489393	2	4	103	1	0	0	0	0	0	0	0	1	14134	842	30	3		3	SETD5	3	9489393	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08		9489393	188533037	16	6873											
FAM19A4	151647	broad.mit.edu	37	3	68929927	68929927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:68929927G>T	uc021xag.1	-	2	577	c.84C>A	c.(82-84)tgC>tgA	p.C28*	FAM19A4_uc021xah.1_Nonsense_Mutation_p.C28*|5S_rRNA_uc021xai.1_5'Flank	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	28						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCAGCTTACAGCACACCATTA	0.512													T	68929927	G	T	68929927	4	4	103	1	0	0	0	0	0	1	0	0	5534	963	34	5	354	5	FAM19A4	3	68929927	Nonsense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	59440534	68929927	129092503	17	6874											
CEP97	79598	broad.mit.edu	37	3	101476715	101476715	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:101476715G>T	uc003dvk.1	+	8	1292	c.1265G>T	c.(1264-1266)aGg>aTg	p.R422M	CEP97_uc010hpm.1_Missense_Mutation_p.R388M|CEP97_uc011bhf.1_Missense_Mutation_p.R363M|CEP97_uc003dvl.1_Missense_Mutation_p.R118M|CEP97_uc003dvm.1_Missense_Mutation_p.R260M	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	422	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTTGAGCTGAGGCTGCAGGGC	0.473													T	101476715	G	T	101476715	3	4	103	1	0	0	0	0	1	0	0	0	3263	1000	35	5	1299	5	CEP97	3	101476715	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	32546788	101476715	96545715	18	6875											
SPON2	10417	broad.mit.edu	37	4	1165082	1165082	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:1165082G>T	uc003gco.4	-	2	742	c.413C>A	c.(412-414)gCg>gAg	p.A138E	SPON2_uc021xkj.1_Missense_Mutation_p.A138E|SPON2_uc010ibr.3_Missense_Mutation_p.A138E|SPON2_uc003gcm.1_Missense_Mutation_p.A56E	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	138	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	p.A138A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTCCAGCTCCGCCGACGTCTG	0.786													T	1165082	G	T	1165082	3	4	103	1	0	0	0	0	1	0	0	0	15082	1087	38	5	598	5	SPON2	4	1165082	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		1165082	189989194	19	6876											
HELQ	113510	broad.mit.edu	37	4	84368060	84368060	+	Silent	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:84368060T>C	uc003hom.3	-	3	1499	c.1320A>G	c.(1318-1320)aaA>aaG	p.K440K	HELQ_uc010ikb.3_Intron|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	440	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGCTATGTCCTTTTTCAATAG	0.373								Other identified genes with known or suspected DNA repair function					C	84368060	T	C	84368060	2	2	103	1	0	0	0	0	0	0	0	1	7047	1606	56	4		4	HELQ	4	84368060	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	83202978	84368060	106786216	20	6877											
BMPR1B	658	broad.mit.edu	37	4	96075770	96075770	+	Silent	SNP	G	G	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:96075770G>C	uc003htm.4	+	12	1729	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	BMPR1B_uc010ilb.3_Silent_p.L485L|BMPR1B_uc003htn.4_Silent_p.L485L	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	485	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	p.A484T(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGACAGCCCTGCGGGTTAAGA	0.448													C	96075770	G	C	96075770	2	2	103	1	0	0	0	0	0	0	0	1	1470	1306	46	5		5	BMPR1B	4	96075770	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	11707710	96075770	95078506	21	6878											
DKK2	27123	broad.mit.edu	37	4	107845338	107845338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:107845338G>A	uc003hyi.3	-	3	1258	c.553C>T	c.(553-555)Cga>Tga	p.R185*	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	185	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCTGATGATCGTAGGCAGGGG	0.448													A	107845338	G	A	107845338	4	1	103	1	0	0	0	0	0	1	0	0	4545	1153	40	1	230	1	DKK2	4	107845338	Nonsense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	11769568	107845338	83308938	22	6879											
ZFR	51663	broad.mit.edu	37	5	32390482	32390482	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:32390482G>A	uc003jhr.1	-	11	2121	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C	ZFR_uc011cny.1_5'Flank	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	681					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATTCGGCGGCGATCATCCCAA	0.507													A	32390482	G	A	32390482	3	1	103	1	0	0	0	0	1	0	0	0	17656	1058	37	2	1219	2	ZFR	5	32390482	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		32390482	148524778	23	6880											
CARTPT	9607	broad.mit.edu	37	5	71015195	71015195	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:71015195C>T	uc003kbv.2	+	0	206	c.75C>T	c.(73-75)acC>acT	p.T25T		NM_004291	NP_004282	Q16568	CART_HUMAN	Homo sapiens CART prepropeptide (CARTPT), mRNA.	25					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TGTTGGGTACCCGTGCCCAGG	0.657													T	71015195	C	T	71015195	2	4	103	1	0	0	0	0	0	0	0	1	2659	610	22	3		3	CARTPT	5	71015195	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	38624713	71015195	109900065	24	6881											
GCNT4	51301	broad.mit.edu	37	5	74325583	74325583	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:74325583C>A	uc003kdn.3	-	0	1142	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	94					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TCAATGATGTCCCTTCTTCTT	0.403													A	74325583	C	A	74325583	3	1	103	1	0	0	0	0	1	0	0	0	6303	855	30	5	1085	5	GCNT4	5	74325583	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	3310388	74325583	106589677	25	6882											
SLC36A2	153201	broad.mit.edu	37	5	150704898	150704898	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:150704898C>T	uc003lty.3	-	7	1089	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.R122Q|SLC36A2_uc010jhv.2_Missense_Mutation_p.R320Q	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	320					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTCCAAACCGCAGGTAGCC	0.532													T	150704898	C	T	150704898	3	4	103	1	0	0	0	0	1	0	0	0	14594	652	23	2	504	2	SLC36A2	5	150704898	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	76379315	150704898	30210362	26	6883											
IL12B	3593	broad.mit.edu	37	5	158743808	158743808	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:158743808G>A	uc003lxr.1	-	6	914	c.872C>T	c.(871-873)aCg>aTg	p.T291M	RNU4ATAC_uc021ygw.1_5'Flank	NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	291	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCTTGTCCGTGAAGACTCT	0.512											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	158743808	G	A	158743808	3	1	103	1	0	0	0	0	1	0	0	0	7625	1145	40	1	118	1	IL12B	5	158743808	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	8038910	158743808	22171452	27	6884											
FOXF2	2295	broad.mit.edu	37	6	1391312	1391312	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:1391312A>G	uc003mtm.3	+	0	1244	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	377					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TACTCGCTGGAGCAGAGCTAC	0.682													G	1391312	A	G	1391312	3	3	103	1	0	0	0	0	1	0	0	0	6006	304	11	4	1132	4	FOXF2	6	1391312	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08		1391312	169723755	28	6885											
TFAP2A	7020	broad.mit.edu	37	6	10410393	10410393	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:10410393G>A	uc003myr.3	-	1	473	c.221C>T	c.(220-222)tCc>tTc	p.S74F	TFAP2A_uc003myq.3_Missense_Mutation_p.S68F|TFAP2A_uc003mys.3_Intron|TFAP2A_uc011dih.2_Missense_Mutation_p.S74F|TFAP2A_uc003myt.3_Missense_Mutation_p.S70F|TFAP2A_uc003myu.1_Missense_Mutation_p.S74F|TFAP2A_uc011dii.1_Missense_Mutation_p.S70F|LOC100130275_uc003myw.3_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	74	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTTGACGTGGGAGTAAGGATC	0.682													A	10410393	G	A	10410393	3	1	103	1	0	0	0	0	1	0	0	0	15784	1174	41	3	1116	3	TFAP2A	6	10410393	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	9019081	10410393	160704674	29	6886											
BAI3	577	broad.mit.edu	37	6	70042889	70042889	+	Silent	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:70042889A>G	uc010kak.3	+	22	3453	c.3177A>G	c.(3175-3177)aaA>aaG	p.K1059K	BAI3_uc003pev.4_Silent_p.K1059K|BAI3_uc011dxx.2_Silent_p.K265K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1059					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAGCTCAAACACAGAGCCG	0.398													G	70042889	A	G	70042889	2	3	103	1	0	0	0	0	0	0	0	1	1300	40	2	4		4	BAI3	6	70042889	Silent	SNP	A	TCGA-06-6694-01A-12D-1845-08	59632496	70042889	101072178	30	6887											
CDK19	23097	broad.mit.edu	37	6	110959910	110959910	+	Splice_Site	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:110959910C>T	uc003puh.1	-	5	530	c.457_splice	c.e5-1	p.K153_splice	CDK19_uc003pui.1_Splice_Site_p.K93_splice|CDK19_uc011eax.1_Splice_Site_p.K29_splice	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	153	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TTGCTGGTTTCTAGAAATAAA	0.289													T	110959910	C	T	110959910	5	4	103	1	0	0	0	0	0	0	1	0	3135	927	32	3	1088	3	CDK19	6	110959910	Splice_Site	SNP	C	TCGA-06-6694-01A-12D-1845-08	40917021	110959910	60155157	31	6888											
C6orf170	221322	broad.mit.edu	37	6	121560260	121560260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:121560260G>A	uc003pyo.1	-	19	2388	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Missense_Mutation_p.P293S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	774					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		GTAGTTCTGGGATGGGTTACC	0.333													A	121560260	G	A	121560260	3	1	103	1	0	0	0	0	1	0	0	0	2344	1174	41	3	1505	3	C6orf170	6	121560260	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	10600350	121560260	49554807	32	6889											
LPA	4018	broad.mit.edu	37	6	160998167	160998167	+	Splice_Site	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:160998167C>T	uc003qtl.3	-	29	4751	c.4631_splice	c.e29+1	p.A1544_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4052	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAATACATACGCATTTGGGT	0.433													T	160998167	C	T	160998167	5	4	103	1	0	0	0	0	0	0	1	0	8903	550	19	1	1538	1	LPA	6	160998167	Splice_Site	SNP	C	TCGA-06-6694-01A-12D-1845-08	39437907	160998167	10116900	33	6890											
SLC29A4	222962	broad.mit.edu	37	7	5331368	5331368	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:5331368G>A	uc003sod.3	+	4	621	c.460G>A	c.(460-462)Gac>Aac	p.D154N	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.D154N|SLC29A4_uc003soe.3_Silent_p.A141A	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	154					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CAGCATCTGCGACGTGTGGCT	0.647													A	5331368	G	A	5331368	3	1	103	1	0	0	0	0	1	0	0	0	14537	1058	37	2	474	2	SLC29A4	7	5331368	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		5331368	153807295	34	6891											
GRM3	2913	broad.mit.edu	37	7	86468659	86468659	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:86468659C>T	uc003uid.3	+	3	2928	c.1829C>T	c.(1828-1830)tCg>tTg	p.S610L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.S482L|GRM3_uc010leh.3_Missense_Mutation_p.S202L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	610					synaptic transmission	integral to plasma membrane		p.S610L(4)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCAAAGCATCGGGCCGAGAA	0.468													T	86468659	C	T	86468659	3	4	103	1	0	0	0	0	1	0	0	0	6798	893	31	2	1839	2	GRM3	7	86468659	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	81137291	86468659	72670004	35	6892											
TECPR1	25851	broad.mit.edu	37	7	97858368	97858368	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:97858368C>T	uc003upg.3	-	15	2598	c.2393G>A	c.(2392-2394)gGa>gAa	p.G798E	TECPR1_uc003uph.1_Missense_Mutation_p.G728E	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	798						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCAGCCGCCTCCATAGCCGCC	0.677													T	97858368	C	T	97858368	3	4	103	1	0	0	0	0	1	0	0	0	15740	855	30	3	1148	3	TECPR1	7	97858368	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	11389709	97858368	61280295	36	6893											
CYP3A4	1576	broad.mit.edu	37	7	99359709	99359709	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:99359709C>T	uc003urv.2	-	10	1315	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CYP3A4_uc003urw.2_Missense_Mutation_p.R402H|CYP3A4_uc011kiz.2_Missense_Mutation_p.R362H	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	403					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTTTGGGTCACGGTGAAGAGC	0.507													T	99359709	C	T	99359709	3	4	103	1	0	0	0	0	1	0	0	0	4178	536	19	1	315	1	CYP3A4	7	99359709	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	1501341	99359709	59778954	37	6894											
ACHE	43	broad.mit.edu	37	7	100490909	100490909	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:100490909G>A	uc003uxd.3	-	0	1101	c.945C>T	c.(943-945)caC>caT	p.H315H	ACHE_uc003uxe.3_Silent_p.H315H|ACHE_uc003uxf.3_Silent_p.H315H|ACHE_uc003uxg.3_Silent_p.H315H|ACHE_uc003uxh.3_Silent_p.H315H|ACHE_uc003uxi.3_Silent_p.H315H|ACHE_uc003uxj.1_Silent_p.H434H	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	315					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CGTGCCATTCGTGGTTCACCA	0.607													A	100490909	G	A	100490909	2	1	103	1	0	0	0	0	0	0	0	1	141	1136	40	1		1	ACHE	7	100490909	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	1131200	100490909	58647754	38	6895											
MUC17	140453	broad.mit.edu	37	7	100692247	100692247	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:100692247G>A	uc003uxp.1	+	4	12710	c.12657G>A	c.(12655-12657)acG>acA	p.T4219T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4219	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					AGACATTCACGGAACAGGTAA	0.507													A	100692247	G	A	100692247	2	1	103	1	0	0	0	0	0	0	0	1	9974	1103	39	2		2	MUC17	7	100692247	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	201338	100692247	58446416	39	6896											
EPHB6	2051	broad.mit.edu	37	7	142561409	142561409	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:142561409G>A	uc011kst.2	+	5	908	c.121G>A	c.(121-123)Gga>Aga	p.G41R	EPHB6_uc011ksu.2_Missense_Mutation_p.G41R|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	41						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACACCACCGGAGAGACATC	0.597													A	142561409	G	A	142561409	3	1	103	1	0	0	0	0	1	0	0	0	5178	1117	39	2	127	2	EPHB6	7	142561409	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	41869162	142561409	16577254	40	6897											
OR2A12	346525	broad.mit.edu	37	7	143792982	143792982	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:143792982C>A	uc011kty.2	+	0	782	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TACATGGCCCCCAAGTCAAGC	0.547													A	143792982	C	A	143792982	3	1	103	1	0	0	0	0	1	0	0	0	10975	623	22	5	784	5	OR2A12	7	143792982	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	1231573	143792982	15345681	41	6898											
DLC1	10395	broad.mit.edu	37	8	12952344	12952344	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:12952344C>T	uc003wwm.2	-	11	3894	c.3450G>A	c.(3448-3450)ctG>ctA	p.L1150L	DLC1_uc003wwk.1_Silent_p.L713L|DLC1_uc003wwl.1_Silent_p.L747L|DLC1_uc011kxx.1_Silent_p.L639L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1150	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATACTGCTTCAGCATGTCTG	0.468													T	12952344	C	T	12952344	2	4	103	1	0	0	0	0	0	0	0	1	4550	813	29	3		3	DLC1	8	12952344	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08		12952344	133411678	42	6899											
TUSC3	7991	broad.mit.edu	37	8	15531274	15531274	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:15531274A>G	uc003wwt.3	+	5	1071	c.727A>G	c.(727-729)Act>Gct	p.T243A	TUSC3_uc003wwu.3_Missense_Mutation_p.T243A	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	243					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTTTGCTATGACTTCTGGCCA	0.383													G	15531274	A	G	15531274	3	3	103	1	0	0	0	0	1	0	0	0	16775	275	10	4	749	4	TUSC3	8	15531274	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	2578930	15531274	130832748	43	6900											
SFTPC	6440	broad.mit.edu	37	8	22020640	22020640	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:22020640C>T	uc003xaw.4	+	5	1099	c.396C>T	c.(394-396)gcC>gcT	p.A132A	SFTPC_uc003xax.4_Silent_p.A83A|SFTPC_uc003xay.4_Silent_p.A83A|SFTPC_uc003xaz.3_Silent_p.A83A|SFTPC_uc011kza.1_Silent_p.A83A|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	83	BRICHOS.				respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AACGCCTGGCCCTGAGTGAGC	0.617													T	22020640	C	T	22020640	2	4	103	1	0	0	0	0	0	0	0	1	14192	610	22	3		3	SFTPC	8	22020640	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	6489366	22020640	124343382	44	6901											
ADAMDEC1	27299	broad.mit.edu	37	8	24256489	24256489	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:24256489A>G	uc003xdz.2	+	8	1085	c.865A>G	c.(865-867)Aac>Gac	p.N289D	ADAMDEC1_uc010lub.2_Missense_Mutation_p.N210D|ADAMDEC1_uc011lab.1_Missense_Mutation_p.N210D	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	289	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CACGTTTGACAACTTCCTGAG	0.488													G	24256489	A	G	24256489	3	3	103	1	0	0	0	0	1	0	0	0	254	130	5	4	899	4	ADAMDEC1	8	24256489	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	2235849	24256489	122107533	45	6902											
JAK2	3717	broad.mit.edu	37	9	5080558	5080558	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:5080558A>T	uc010mhm.3	+	16	2422	c.2309A>T	c.(2308-2310)cAt>cTt	p.H770L	JAK2_uc003ziw.3_Missense_Mutation_p.H770L	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	770	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GAAGATAGGCATCAGCTTCCT	0.358		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				T	5080558	A	T	5080558	3	4	103	1	0	0	0	0	1	0	0	0	7938	217	8	5	2371	5	JAK2	9	5080558	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08		5080558	136132873	46	6903											
FAM120A	23196	broad.mit.edu	37	9	96289441	96289441	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:96289441A>C	uc004atw.3	+	7	1448	c.1423A>C	c.(1423-1425)Atc>Ctc	p.I475L	FAM120A_uc004atv.3_Missense_Mutation_p.I475L|FAM120A_uc004atx.3_Missense_Mutation_p.I257L|FAM120A_uc004aty.3_Missense_Mutation_p.I256L|FAM120A_uc004atz.3_Missense_Mutation_p.I124L|FAM120A_uc010mrf.1_Non-coding_Transcript	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	475						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTTAGCCATATCAGCGGGAA	0.463													C	96289441	A	C	96289441	3	2	103	1	0	0	0	0	1	0	0	0	5415	449	16	5	1453	5	FAM120A	9	96289441	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	91208883	96289441	44923990	47	6904											
ZNF169	169841	broad.mit.edu	37	9	97063382	97063382	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:97063382C>T	uc022bki.1	+	3	1600	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	ZNF169_uc004aum.1_Silent_p.Y514Y	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	514						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)				AGGAGCTTTACGTAGACAGGG	0.537													T	97063382	C	T	97063382	2	4	103	1	0	0	0	0	0	0	0	1	17739	547	19	1		1	ZNF169	9	97063382	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	773941	97063382	44150049	48	6905											
MYOF	26509	broad.mit.edu	37	10	95134679	95134679	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr10:95134679G>A	uc001kin.3	-	22	2265	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	MYOF_uc001kio.3_Silent_p.N701N|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	714					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAACTGTGACGTTGGCTTTTC	0.448													A	95134679	G	A	95134679	2	1	103	1	0	0	0	0	0	0	0	1	10089	1136	40	1		1	MYOF	10	95134679	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		95134679	40400068	49	6906											
LRRC27	80313	broad.mit.edu	37	10	134165159	134165159	+	Silent	SNP	G	G	A	rs147065829		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr10:134165159G>A	uc010quw.1	+	6	1170	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LRRC27_uc001llf.2_Missense_Mutation_p.R357H|LRRC27_uc010quv.1_Silent_p.P325P|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.P325P|LRRC27_uc001llj.2_Silent_p.P263P|LRRC27_uc001llk.4_Silent_p.P198P	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	325								p.P325Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527													A	134165159	G	A	134165159	2	1	103	1	0	0	0	0	0	0	0	1	8981	1145	40	1		1	LRRC27	10	134165159	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	39030480	134165159	1369588	50	6907											
FAM160A2	84067	broad.mit.edu	37	11	6239211	6239211	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:6239211G>A	uc001mck.4	-	8	2006	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	FAM160A2_uc001mcl.4_Silent_p.G535G|FAM160A2_uc001mcm.2_Silent_p.G535G	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	535					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGGCCGTCGGCCAGGGCTGG	0.652													A	6239211	G	A	6239211	2	1	103	1	0	0	0	0	0	0	0	1	5469	1190	42	3		3	FAM160A2	11	6239211	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		6239211	128767305	51	6908											
SLC35C1	55343	broad.mit.edu	37	11	45827648	45827648	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:45827648C>T	uc001nbp.3	+	0	1008	c.296C>T	c.(295-297)cCt>cTt	p.P99L	SLC35C1_uc001nbo.3_Missense_Mutation_p.P86L|SLC35C1_uc010rgm.2_Missense_Mutation_p.P86L	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	99						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCCTGCTGCCCTGGTGCCGTG	0.652													T	45827648	C	T	45827648	3	4	103	1	0	0	0	0	1	0	0	0	14579	681	24	3	298	3	SLC35C1	11	45827648	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	39588437	45827648	89178868	52	6909											
OR4C11	219429	broad.mit.edu	37	11	55371296	55371296	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:55371296A>T	uc010rii.2	-	0	579	c.554T>A	c.(553-555)cTt>cAt	p.L185H		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CATGCAGGCAAGTTTCAACAA	0.398													T	55371296	A	T	55371296	3	4	103	1	0	0	0	0	1	0	0	0	11045	72	3	5	380	5	OR4C11	11	55371296	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	9543648	55371296	79635220	53	6910											
OR4P4	81300	broad.mit.edu	37	11	55405976	55405976	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:55405976C>T	uc010rij.2	+	0	143	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T48A(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATTTCTATCACGTGCACCCAG	0.388													T	55405976	C	T	55405976	3	4	103	1	0	0	0	0	1	0	0	0	11080	536	19	1	145	1	OR4P4	11	55405976	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	34680	55405976	79600540	54	6911											
OR5M1	390168	broad.mit.edu	37	11	56380780	56380780	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:56380780A>G	uc001nja.1	-	0	199	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCTACAAAGGAGAGGTGGCCA	0.463													G	56380780	A	G	56380780	3	3	103	1	0	0	0	0	1	0	0	0	11172	304	11	4	752	4	OR5M1	11	56380780	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	974804	56380780	78625736	55	6912											
OR5AR1	219493	broad.mit.edu	37	11	56431356	56431356	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:56431356C>A	uc010rjm.2	+	0	195	c.195C>A	c.(193-195)aaC>aaA	p.N65K	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCCTCTGCAACCTCTCCTTTG	0.453													A	56431356	C	A	56431356	3	1	103	1	0	0	0	0	1	0	0	0	11145	506	18	5	197	5	OR5AR1	11	56431356	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	50576	56431356	78575160	56	6913											
LRP5	4041	broad.mit.edu	37	11	68191121	68191121	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:68191121G>A	uc001ont.3	+	13	3267	c.3192G>A	c.(3190-3192)ggG>ggA	p.G1064G	LRP5_uc009ysg.3_Silent_p.G474G	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1064	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTGCGTGGGGACCGCGACA	0.677													A	68191121	G	A	68191121	2	1	103	1	0	0	0	0	0	0	0	1	8960	1219	43	3		3	LRP5	11	68191121	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	11759765	68191121	66815395	57	6914											
CLPB	81570	broad.mit.edu	37	11	72005108	72005108	+	Silent	SNP	G	G	A	rs147296630		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:72005108G>A	uc001osj.3	-	15	1883	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	CLPB_uc010rqx.2_Silent_p.D566D|CLPB_uc010rqy.2_Silent_p.D552D|CLPB_uc001osk.3_Silent_p.D581D|CLPB_uc010rqz.2_Silent_p.D410D|CLPB_uc001osi.3_Silent_p.D219D	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	611					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CATTGTAGCCGTCGACCAGCA	0.612													A	72005108	G	A	72005108	2	1	103	1	0	0	0	0	0	0	0	1	3551	1136	40	1		1	CLPB	11	72005108	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	3813987	72005108	63001408	58	6915											
TMEM25	84866	broad.mit.edu	37	11	118403822	118403822	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:118403822C>T	uc001ptk.4	+	3	747	c.573C>T	c.(571-573)acC>acT	p.T191T	TMEM25_uc010ryd.1_Silent_p.T191T|TMEM25_uc010ryf.2_Intron|TMEM25_uc010rye.2_Silent_p.T191T|TMEM25_uc009zad.3_Silent_p.T191T|TMEM25_uc001pth.3_Silent_p.T191T|TMEM25_uc001pti.3_Silent_p.T87T|TMEM25_uc001ptl.2_Silent_p.T191T|TMEM25_uc001ptm.2_Silent_p.T191T	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN	Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.	191						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTGGCTCACCAACCACACGG	0.632													T	118403822	C	T	118403822	2	4	103	1	0	0	0	0	0	0	0	1	16147	581	21	3		3	TMEM25	11	118403822	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	46398714	118403822	16602694	59	6916											
MFSD5	84975	broad.mit.edu	37	12	53646716	53646716	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:53646716T>A	uc001sch.2	+	1	565	c.418T>A	c.(418-420)Tgc>Agc	p.C140S	MFSD5_uc001sci.2_Missense_Mutation_p.C33S|MFSD5_uc021qye.1_Missense_Mutation_p.C33S	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	33					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TGGAAGGGCCTGCAGCAATCC	0.572													A	53646716	T	A	53646716	3	1	103	1	0	0	0	0	1	0	0	0	9534	1580	55	5	424	5	MFSD5	12	53646716	Missense_Mutation	SNP	T	TCGA-06-6694-01A-12D-1845-08		53646716	80205179	60	6917											
SPIC	121599	broad.mit.edu	37	12	101880531	101880531	+	Silent	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:101880531A>G	uc001tid.3	+	5	888	c.729A>G	c.(727-729)ctA>ctG	p.L243L	SPIC_uc010svp.2_Silent_p.L243L|SPIC_uc009zua.3_Silent_p.L118L|SPIC_uc021rcq.1_Silent_p.L118L	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACCATGAGCTAAATCACCATG	0.323													G	101880531	A	G	101880531	2	3	103	1	0	0	0	0	0	0	0	1	15050	349	13	4		4	SPIC	12	101880531	Silent	SNP	A	TCGA-06-6694-01A-12D-1845-08	48233815	101880531	31971364	61	6918											
CIT	11113	broad.mit.edu	37	12	120148180	120148180	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:120148180C>T	uc001txj.2	-	38	5003	c.4947G>A	c.(4945-4947)gtG>gtA	p.V1649V	CIT_uc001txh.2_Silent_p.V1126V|CIT_uc001txi.2_Silent_p.V1607V	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1607	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.N1649S(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTCGGTGCCCACCAACACCA	0.512													T	120148180	C	T	120148180	2	4	103	1	0	0	0	0	0	0	0	1	3438	581	21	3		3	CIT	12	120148180	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	18267649	120148180	13703715	62	6919											
OASL	8638	broad.mit.edu	37	12	121471350	121471350	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:121471350A>G	uc001tzj.1	-	1	401	c.395T>C	c.(394-396)gTc>gCc	p.V132A	OASL_uc001tzk.1_Missense_Mutation_p.V132A	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	132					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCATCGGGGACTCTCTGCTC	0.587													G	121471350	A	G	121471350	3	3	103	1	0	0	0	0	1	0	0	0	10802	275	10	4	1169	4	OASL	12	121471350	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	1323170	121471350	12380545	63	6920											
RIMBP2	23504	broad.mit.edu	37	12	130927081	130927081	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:130927081G>A	uc001uil.2	-	7	981	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_uc001uim.3_Silent_p.S163S	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	255						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCCGATGCCGGAATGGTTGA	0.597													A	130927081	G	A	130927081	2	1	103	1	0	0	0	0	0	0	0	1	13363	1103	39	2		2	RIMBP2	12	130927081	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	9455731	130927081	2924814	64	6921											
PABPC3	5042	broad.mit.edu	37	13	25671129	25671129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr13:25671129C>T	uc001upy.3	+	0	854	c.793C>T	c.(793-795)Cga>Tga	p.R265*		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	265	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTACGTTGGTCGAGCTCAGAA	0.403													T	25671129	C	T	25671129	4	4	103	1	0	0	0	0	0	1	0	0	11365	876	31	2	795	2	PABPC3	13	25671129	Nonsense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		25671129	89498749	65	6922											
OR4M1	441670	broad.mit.edu	37	14	20249075	20249075	+	Silent	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:20249075G>T	uc010tku.2	+	0	594	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V198L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGAGTTAGTGATGATCTGTA	0.478													T	20249075	G	T	20249075	2	4	103	1	0	0	0	0	0	0	0	1	11075	1277	45	5		5	OR4M1	14	20249075	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		20249075	87100465	66	6923											
JPH4	84502	broad.mit.edu	37	14	24040215	24040215	+	Silent	SNP	C	C	T	rs144311601		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:24040215C>T	uc001wkq.2	-	5	2643	c.1725G>A	c.(1723-1725)tcG>tcA	p.S575S	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.3_5'Flank|JPH4_uc010tnr.1_Silent_p.S240S|JPH4_uc001wkr.2_Silent_p.S575S	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	575					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		p.S575S(2)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCGAGGACGAGCCCCTCA	0.687													T	24040215	C	T	24040215	2	4	103	1	0	0	0	0	0	0	0	1	7963	523	19	1		1	JPH4	14	24040215	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	3791140	24040215	83309325	67	6924											
IRF9	10379	broad.mit.edu	37	14	24635334	24635334	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:24635334G>A	uc001wmq.3	+	8	1931	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Missense_Mutation_p.E155K	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	371					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AATACAGATGGAGCAGGCCTT	0.597													A	24635334	G	A	24635334	3	1	103	1	0	0	0	0	1	0	0	0	7837	1175	41	3	1141	3	IRF9	14	24635334	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	595119	24635334	82714206	68	6925											
MAP1A	4130	broad.mit.edu	37	15	43820051	43820051	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:43820051C>G	uc001zrt.3	+	3	6847	c.6380C>G	c.(6379-6381)cCt>cGt	p.P2127R		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2127						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCCCCAAGTCCTCCTCACCCC	0.582													G	43820051	C	G	43820051	3	3	103	1	0	0	0	0	1	0	0	0	9227	681	24	5	6382	5	MAP1A	15	43820051	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		43820051	58711341	69	6926											
FGF7	2252	broad.mit.edu	37	15	49776594	49776594	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:49776594G>A	uc001zxn.3	+	3	1007	c.478G>A	c.(478-480)Gga>Aga	p.G160R	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	160					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GACACACAACGGAGGGGAAAT	0.353													A	49776594	G	A	49776594	3	1	103	1	0	0	0	0	1	0	0	0	5857	1117	39	2	488	2	FGF7	15	49776594	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	5956543	49776594	52754798	70	6927											
BCL2L10	10017	broad.mit.edu	37	15	52404684	52404684	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:52404684C>T	uc002abq.3	-	0	289	c.240G>A	c.(238-240)ctG>ctA	p.L80L		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.	70					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		AATCCGCCATCAGCGCCACCA	0.692													T	52404684	C	T	52404684	2	4	103	1	0	0	0	0	0	0	0	1	1368	813	29	3		3	BCL2L10	15	52404684	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	2628090	52404684	50126708	71	6928											
RFX7	64864	broad.mit.edu	37	15	56387837	56387837	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:56387837G>T	uc010bfn.3	-	8	2089	c.2089C>A	c.(2089-2091)Caa>Aaa	p.Q697K	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.Q511K	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	600					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAACCTTTTGGTCCTTCTTA	0.453													T	56387837	G	T	56387837	3	4	103	1	0	0	0	0	1	0	0	0	13268	1357	47	5	2297	5	RFX7	15	56387837	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	3983153	56387837	46143555	72	6929											
RPP25	54913	broad.mit.edu	37	15	75248658	75248658	+	Silent	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:75248658C>A	uc002azj.1	-	0	1118	c.267G>T	c.(265-267)gcG>gcT	p.A89A		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	Homo sapiens ribonuclease P/MRP 25kDa subunit (RPP25), mRNA.	89					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding			breast(1)|lung(1)	2						GGTGCAGGCCCGCCAGGCGGC	0.736													A	75248658	C	A	75248658	2	1	103	1	0	0	0	0	0	0	0	1	13611	639	23	5		5	RPP25	15	75248658	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	18860821	75248658	27282734	73	6930											
IGF1R	3480	broad.mit.edu	37	15	99251218	99251218	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:99251218C>T	uc002bul.3	+	1	572	c.522C>T	c.(520-522)ccC>ccT	p.P174P	IGF1R_uc010urq.2_Silent_p.P174P|IGF1R_uc010bon.3_Silent_p.P174P	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	174					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGAATAAGCCCCCAAAGGAAT	0.517													T	99251218	C	T	99251218	2	4	103	1	0	0	0	0	0	0	0	1	7571	610	22	3		3	IGF1R	15	99251218	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	24002560	99251218	3280174	74	6931											
TEKT5	146279	broad.mit.edu	37	16	10788195	10788195	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:10788195G>A	uc002czz.1	-	0	608	c.536C>T	c.(535-537)gCg>gTg	p.A179V		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	179					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTCATTGGCCGCGCACTCCAG	0.577													A	10788195	G	A	10788195	3	1	103	1	0	0	0	0	1	0	0	0	15753	1087	38	1	949	1	TEKT5	16	10788195	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		10788195	79566558	75	6932											
ITGAM	3684	broad.mit.edu	37	16	31286944	31286944	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:31286944C>T	uc002ebr.3	+	8	1031	c.933C>T	c.(931-933)caC>caT	p.H311H	ITGAM_uc002ebq.3_Silent_p.H311H|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	311	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTCGTGATCACGTGTTCCAGG	0.512													T	31286944	C	T	31286944	2	4	103	1	0	0	0	0	0	0	0	1	7887	535	19	1		1	ITGAM	16	31286944	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	20498749	31286944	59067809	76	6933											
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7577568C>A	uc002gim.2	-	6	907	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.3_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)			A	7577568	C	A	7577568	3	1	103	1	0	0	0	0	1	0	0	0	16378	478	17	5	577	5	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		7577568	73617642	77	6934											
LSMD1	84316	broad.mit.edu	37	17	7760481	7760503	+	Frame_Shift_Del	DEL	CTCAGCCGCCGAGTCCTCGCGCT	CTCAGCCGCCGAGTCCTCGCGCT	-			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7760481_7760503delCTCAGCCGCCGAGTCCTCGCGCT	uc002gja.3	-	0	670_692	c.239_261delAGCGCGAGGACTCGGCGGCTGAG	c.(238-261)gagcgcgaggactcggcggctgagfs	p.E80fs	LSMD1_uc002giz.3_Frame_Shift_Del_p.E32fs|CYB5D1_uc002gjb.4_5'Flank|CYB5D1_uc021tpi.1_5'Flank	NM_032356	NP_115732	Q9BRA0	LSMD1_HUMAN	Homo sapiens LSM domain containing 1 (LSMD1), mRNA.	32						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GTCGGGCGCGCTCAGCCGCCGAGTCCTCGCGCTCTCCGTCCGA	0.682											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	7760503	CTCAGCCGCCGAGTCCTCGCGCT	-	7760481	7	5	103	1	0	1	0	1	0	0	0	0	9062	796	28	0	268	0	LSMD1	17	7760481	Frame_Shift_Del	DEL	CTCAGCCGCCGAGTCCTCGCGCT	TCGA-06-6694-01A-12D-1845-08	182913	7760481	73434729	78	6935											
PER1	5187	broad.mit.edu	37	17	8048179	8048179	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:8048179G>A	uc002gkd.3	-	17	2589	c.2351C>T	c.(2350-2352)tCc>tTc	p.S784F	PER1_uc010cns.3_5'Flank|PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.S768F	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	784	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			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						TGTGTGCAGGGACAGCACGGC	0.682			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					A	8048179	G	A	8048179	3	1	103	1	0	0	0	0	1	0	0	0	11729	1174	41	3	1545	3	PER1	17	8048179	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	287698	8048179	73147031	79	6936											
LLGL1	3996	broad.mit.edu	37	17	18135847	18135847	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:18135847G>A	uc002gsp.3	+	2	279	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	73					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GGCCTGCACCGGGATGCAGCC	0.587													A	18135847	G	A	18135847	3	1	103	1	0	0	0	0	1	0	0	0	8833	1116	39	2	228	2	LLGL1	17	18135847	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	10087668	18135847	63059363	80	6937											
MBTD1	54799	broad.mit.edu	37	17	49270165	49270165	+	Silent	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:49270165T>C	uc002itr.4	-	14	2012	c.1668A>G	c.(1666-1668)caA>caG	p.Q556Q	MBTD1_uc002itp.4_Silent_p.Q392Q|MBTD1_uc002itq.4_3'UTR	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	Homo sapiens mbt domain containing 1 (MBTD1), mRNA.	556					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q392Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGGCTGTAGTTGATATCCAG	0.423													C	49270165	T	C	49270165	2	2	103	1	0	0	0	0	0	0	0	1	9360	1722	60	4		4	MBTD1	17	49270165	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	31134318	49270165	31925045	81	6938											
BRIP1	83990	broad.mit.edu	37	17	59761146	59761147	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:59761146_59761147insT	uc002izk.2	-	19	3566_3567	c.3260_3261insA	c.(3259-3261)aatfs	p.N1087fs		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	1087					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTTCAGAATGATTTTTTCTAGT	0.376			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					T	59761147	-	T	59761146	7	5	103	1	0	1	1	0	0	0	0	0	1514	330	12	0	492	0	BRIP1	17	59761146	Frame_Shift_Ins	INS	-	TCGA-06-6694-01A-12D-1845-08	10490981	59761146	21434064	82	6939											
ZBTB7C	201501	broad.mit.edu	37	18	45566526	45566526	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr18:45566526G>A	uc010dnv.3	-	2	1455	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L	ZBTB7C_uc002ldb.3_Missense_Mutation_p.P318L|ZBTB7C_uc010dnu.3_Missense_Mutation_p.P327L|ZBTB7C_uc010dnw.3_Missense_Mutation_p.P318L|ZBTB7C_uc010dnx.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dny.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dnz.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doi.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doj.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dok.1_Missense_Mutation_p.P367L|ZBTB7C_uc010dol.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doa.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dob.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doc.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dod.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doe.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dof.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dog.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doh.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dom.1_Missense_Mutation_p.P327L|ZBTB7C_uc010don.1_Missense_Mutation_p.P326L|ZBTB7C_uc010dop.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doq.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dor.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dos.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dot.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doo.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dou.1_Missense_Mutation_p.P327L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	318						intracellular	nucleic acid binding|zinc ion binding	p.P318L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGCCCCCCCGGCAGGTCAGG	0.617													A	45566526	G	A	45566526	3	1	103	1	0	0	0	0	1	0	0	0	17552	1116	39	2	914	2	ZBTB7C	18	45566526	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		45566526	32510722	83	6940											
C3	718	broad.mit.edu	37	19	6680198	6680198	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:6680198G>T	uc002mfm.3	-	35	4489	c.4427C>A	c.(4426-4428)gCa>gAa	p.A1476E		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1476					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GACCTTGACTGCTCCAGGCTG	0.512													T	6680198	G	T	6680198	3	4	103	1	0	0	0	0	1	0	0	0	2204	1319	46	5	588	5	C3	19	6680198	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		6680198	52448785	84	6941											
KANK3	256949	broad.mit.edu	37	19	8389585	8389585	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:8389585C>T	uc010dwa.3	-	8	2278	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	738										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CGCCCATACTCACTGGCACAC	0.627													T	8389585	C	T	8389585	3	4	103	1	0	0	0	0	1	0	0	0	7978	835	29	3	265	3	KANK3	19	8389585	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	1709387	8389585	50739398	85	6942											
ZNF626	199777	broad.mit.edu	37	19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:20807460T>C	uc002npb.1	-	3	1373	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	ZNF626_uc002npc.1_Missense_Mutation_p.Y332C	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408													C	20807460	T	C	20807460	3	2	103	1	0	0	0	0	1	0	0	0	18047	1638	57	4	367	4	ZNF626	19	20807460	Missense_Mutation	SNP	T	TCGA-06-6694-01A-12D-1845-08	12417875	20807460	38321523	86	6943											
ZNF257	113835	broad.mit.edu	37	19	22270778	22270778	+	Splice_Site	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:22270778G>A	uc010ecx.3	+	4	396	c.227_splice	c.e4-1	p.V76_splice	ZNF257_uc010ecy.3_Splice_Site_p.V44_splice	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTCTTTTAGTTATGTGTTC	0.294													A	22270778	G	A	22270778	5	1	103	1	0	0	0	0	0	0	1	0	17797	1043	36	3	240	3	ZNF257	19	22270778	Splice_Site	SNP	G	TCGA-06-6694-01A-12D-1845-08	1463318	22270778	36858205	87	6944											
ZNF302	55900	broad.mit.edu	37	19	35175737	35175737	+	Silent	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:35175737C>G	uc002nvr.1	+	5	1190	c.927C>G	c.(925-927)gcC>gcG	p.A309A	ZNF302_uc002nvp.1_Silent_p.A265A|ZNF302_uc002nvq.1_Silent_p.A265A|ZNF302_uc002nvs.1_Silent_p.A265A	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q309Q(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTGGGAAGGCCTTTAGCCATG	0.448													G	35175737	C	G	35175737	2	3	103	1	0	0	0	0	0	0	0	1	17829	668	24	5		5	ZNF302	19	35175737	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	12904959	35175737	23953246	88	6945											
CGB8	94115	broad.mit.edu	37	19	49551985	49551985	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:49551985G>A	uc002pmb.4	-	0	384	c.12C>T	c.(10-12)ttC>ttT	p.F4F	CGB8_uc002pmc.3_Intron	NM_033183	NP_149439	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 8 (CGB8), mRNA.	4			F -> L (in dbSNP:rs6516).		apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GTCTTACCTGGAACATCTCCA	0.602													A	49551985	G	A	49551985	2	1	103	1	0	0	0	0	0	0	0	1	3301	1165	41	3		3	CGB8	19	49551985	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	14376248	49551985	9576998	89	6946											
C19orf18	147685	broad.mit.edu	37	19	58485726	58485726	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:58485726C>T	uc002qqv.3	-	0	177	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	25						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CATCTGCATACGGCAAGCATA	0.393													T	58485726	C	T	58485726	2	4	103	1	0	0	0	0	0	0	0	1	1910	523	19	1		1	C19orf18	19	58485726	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	8933741	58485726	643257	90	6947											
RALGAPA2	57186	broad.mit.edu	37	20	20571899	20571899	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:20571899C>T	uc002wrz.3	-	16	2406	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M	RALGAPA2_uc002wry.3_Missense_Mutation_p.V370M|RALGAPA2_uc010zsg.2_Missense_Mutation_p.V203M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	755					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGCTGTCCCACTGTGAGATGG	0.512													T	20571899	C	T	20571899	3	4	103	1	0	0	0	0	1	0	0	0	13014	565	20	3	3450	3	RALGAPA2	20	20571899	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		20571899	42453621	91	6948											
MYLK2	85366	broad.mit.edu	37	20	30409482	30409482	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:30409482C>T	uc002wwq.2	+	3	816	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	238					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGAGAAATCCGAGGTGGGGC	0.637													T	30409482	C	T	30409482	2	4	103	1	0	0	0	0	0	0	0	1	10057	639	23	2		2	MYLK2	20	30409482	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	9837583	30409482	32616038	92	6949											
TTPAL	79183	broad.mit.edu	37	20	43115268	43115268	+	Silent	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:43115268T>C	uc002xmc.1	+	4	796	c.672T>C	c.(670-672)caT>caC	p.H224H	TTPAL_uc002xmd.1_Silent_p.H224H|TTPAL_uc010ggr.1_Silent_p.H37H	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	224	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAGCAGTCCATGTGGTGAATG	0.408													C	43115268	T	C	43115268	2	2	103	1	0	0	0	0	0	0	0	1	16734	1461	51	4		4	TTPAL	20	43115268	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	12705786	43115268	19910252	93	6950											
TRAPPC10	7109	broad.mit.edu	37	21	45513965	45513965	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr21:45513965G>A	uc002zea.3	+	19	3188	c.3019G>A	c.(3019-3021)Gtg>Atg	p.V1007M	TRAPPC10_uc010gpo.3_Missense_Mutation_p.V718M|TRAPPC10_uc011afa.2_Missense_Mutation_p.V385M|TRAPPC10_uc011afb.1_Missense_Mutation_p.V112M	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1007					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.V1007L(2)|p.V1007A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAAGCAGTCGGTGTTCTTCGT	0.542													A	45513965	G	A	45513965	3	1	103	1	0	0	0	0	1	0	0	0	16454	1261	44	3	3097	3	TRAPPC10	21	45513965	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		45513965	2615930	94	6951											
COL6A1	1291	broad.mit.edu	37	21	47421892	47421892	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr21:47421892G>A	uc002zhu.1	+	30	2076	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	COL6A1_uc002zhv.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	658	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CAGGGCAGTCGTACGCGGGTG	0.652													A	47421892	G	A	47421892	2	1	103	1	0	0	0	0	0	0	0	1	3699	1132	40	1		1	COL6A1	21	47421892	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	1907927	47421892	708003	95	6952											
CCT8L2	150160	broad.mit.edu	37	22	17072055	17072055	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr22:17072055G>A	uc002zlp.1	-	0	1646	c.1386C>T	c.(1384-1386)gaC>gaT	p.D462D		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	462					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.D462H(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)				CTGCCATCACGTCTGAGACAG	0.527													A	17072055	G	A	17072055	2	1	103	1	0	0	0	0	0	0	0	1	2961	1136	40	1		1	CCT8L2	22	17072055	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		17072055	34232511	96	6953											
RAI2	10742	broad.mit.edu	37	X	17819726	17819726	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:17819726G>A	uc022btm.1	-	0	405	c.405C>T	c.(403-405)aaC>aaT	p.N135N	RAI2_uc004cyf.3_Silent_p.N135N|RAI2_uc004cyg.3_Silent_p.N135N|RAI2_uc011miy.2_Silent_p.N85N|RAI2_uc022btl.1_Silent_p.N135N|RAI2_uc004cyh.4_Silent_p.N135N|RAI2_uc010nfa.3_Silent_p.N135N	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	135					embryo development			p.N135D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCAGAGGGGAGTTGAGGTGCT	0.642													A	17819726	G	A	17819726	2	1	103	1	0	0	0	0	0	0	0	1	13009	1020	36	3		3	RAI2	23	17819726	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		17819726	137450834	97	6954											
ACOT9	23597	broad.mit.edu	37	X	23731303	23731303	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:23731303G>T	uc004dao.3	-	8	757	c.611C>A	c.(610-612)cCt>cAt	p.P204H	ACOT9_uc004dap.3_Missense_Mutation_p.P195H|ACOT9_uc011mjt.2_Intron|ACOT9_uc004dar.3_Missense_Mutation_p.P135H|ACOT9_uc004dat.1_Missense_Mutation_p.P195H	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	195					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	p.V204M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ATCCAAAACAGGACAAAATTC	0.328													T	23731303	G	T	23731303	3	4	103	1	0	0	0	0	1	0	0	0	157	1000	35	5	767	5	ACOT9	23	23731303	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	5911577	23731303	131539257	98	6955											
FAM47C	442444	broad.mit.edu	37	X	37027694	37027694	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:37027694C>T	uc004ddl.2	+	0	1263	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	404										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						CCTCTCTTCCCGGAGCCTCCC	0.607													T	37027694	C	T	37027694	3	4	103	1	0	0	0	0	1	0	0	0	5571	652	23	2	1213	2	FAM47C	23	37027694	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	13296391	37027694	118242866	99	6956											
SYN1	6853	broad.mit.edu	37	X	47478794	47478794	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:47478794C>G	uc004die.3	-	0	463	c.334G>C	c.(334-336)Gcc>Ccc	p.A112P	SYN1_uc004did.3_Missense_Mutation_p.A112P	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	112	B; linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	p.A111A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						ACCCTGGAGGCGGCTCCCCCG	0.716													G	47478794	C	G	47478794	3	3	103	1	0	0	0	0	1	0	0	0	15437	768	27	5	1835	5	SYN1	23	47478794	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	10451100	47478794	107791766	100	6957											
ZNF182	7569	broad.mit.edu	37	X	47836621	47836621	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:47836621G>A	uc004dir.3	-	6	1211	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	ZNF182_uc004dis.3_Missense_Mutation_p.P270S|ZNF182_uc004dit.3_Missense_Mutation_p.P289S	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CACTCAAAGGGTCTCTCTCCT	0.403													A	47836621	G	A	47836621	3	1	103	1	0	0	0	0	1	0	0	0	17747	1261	44	3	1058	3	ZNF182	23	47836621	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	357827	47836621	107433939	101	6958											
SMC1A	8243	broad.mit.edu	37	X	53439849	53439849	+	Splice_Site	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:53439849C>T	uc004dsg.3	-	5	923	c.854_splice	c.e5+1	p.K285_splice	SMC1A_uc011moe.2_Splice_Site_p.K263_splice|SMC1A_uc011mof.2_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	285					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTGCCTCTTACTTGAtctcct	0.502													T	53439849	C	T	53439849	5	4	103	1	0	0	0	0	0	0	1	0	14781	579	20	3	2930	3	SMC1A	23	53439849	Splice_Site	SNP	C	TCGA-06-6694-01A-12D-1845-08	5603228	53439849	101830711	102	6959											
P2RY10	27334	broad.mit.edu	37	X	78216911	78216911	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:78216911C>T	uc022bzl.1	+	0	894	c.894C>T	c.(892-894)tgC>tgT	p.C298C	P2RY10_uc004ede.3_Silent_p.C298C|P2RY10_uc004edf.3_Silent_p.C298C	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	298						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GTCTCTGCTGCCTTTTGGATC	0.483													T	78216911	C	T	78216911	2	4	103	1	0	0	0	0	0	0	0	1	11347	747	26	3		3	P2RY10	23	78216911	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	24777062	78216911	77053649	103	6960											
PABPC5	140886	broad.mit.edu	37	X	90690820	90690820	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:90690820G>T	uc022bzs.1	+	0	244	c.244G>T	c.(244-246)Gat>Tat	p.D82Y	PABPC5_uc004efg.3_Missense_Mutation_p.D82Y	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	82	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.F81L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CATGAATTTTGATTTGATTAA	0.483													T	90690820	G	T	90690820	3	4	103	1	0	0	0	0	1	0	0	0	11367	1290	45	5	246	5	PABPC5	23	90690820	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	12473909	90690820	64579740	104	6961											
PABPC5	140886	broad.mit.edu	37	X	90690988	90690988	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:90690988G>A	uc022bzs.1	+	0	412	c.412G>A	c.(412-414)Gta>Ata	p.V138I	PABPC5_uc004efg.3_Missense_Mutation_p.V138I	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	138	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGCAAAGTCGTATGCGATGA	0.453													A	90690988	G	A	90690988	3	1	103	1	0	0	0	0	1	0	0	0	11367	1145	40	1	414	1	PABPC5	23	90690988	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	168	90690988	64579572	105	6962											
BHLHB9	80823	broad.mit.edu	37	X	102005060	102005060	+	Silent	SNP	T	T	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:102005060T>A	uc022cbi.1	+	0	1137	c.1137T>A	c.(1135-1137)ccT>ccA	p.P379P	BHLHB9_uc010nog.3_Silent_p.P379P|BHLHB9_uc011mrq.2_Silent_p.P379P|BHLHB9_uc011mrr.2_Silent_p.P379P|BHLHB9_uc011mrs.2_Silent_p.P379P|BHLHB9_uc011mrt.2_Silent_p.P379P|BHLHB9_uc004ejo.3_Silent_p.P379P|BHLHB9_uc011mru.2_Silent_p.P379P|BHLHB9_uc011mrv.2_Silent_p.P379P	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	379						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTCCTTCCCCTGAAATGAGAA	0.378													A	102005060	T	A	102005060	2	1	103	1	0	0	0	0	0	0	0	1	1420	1567	55	5		5	BHLHB9	23	102005060	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	11314072	102005060	53265500	106	6963											
AKAP14	158798	broad.mit.edu	37	X	119048716	119048716	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:119048716G>C	uc004ese.3	+	4	454	c.316G>C	c.(316-318)Gac>Cac	p.D106H	AKAP14_uc004esf.3_Intron	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.	106						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AGAGAGGAAAGACTTAATTCA	0.408													C	119048716	G	C	119048716	3	2	103	1	0	0	0	0	1	0	0	0	450	942	33	5	335	5	AKAP14	23	119048716	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	17043656	119048716	36221844	107	6964											
DCAF12L2	340578	broad.mit.edu	37	X	125299171	125299171	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:125299171C>T	uc004euk.2	-	0	910	c.737G>A	c.(736-738)cGt>cAt	p.R246H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647													T	125299171	C	T	125299171	3	4	103	1	0	0	0	0	1	0	0	0	4265	536	19	1	658	1	DCAF12L2	23	125299171	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	6250455	125299171	29971389	108	6965											
ZNF449	203523	broad.mit.edu	37	X	134494349	134494349	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:134494349C>G	uc004eys.3	+	4	1070	c.905C>G	c.(904-906)tCc>tGc	p.S302C	ZNF449_uc004eyt.3_Missense_Mutation_p.S182C|ZNF449_uc004eyu.3_Missense_Mutation_p.S108C	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	302					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAACTCCAACTTGGAA	0.468													G	134494349	C	G	134494349	3	3	103	1	0	0	0	0	1	0	0	0	17917	855	30	5	919	5	ZNF449	23	134494349	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	9195178	134494349	20776211	109	6966											
FLNA	2316	broad.mit.edu	37	X	153581222	153581222	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:153581222G>A	uc004fkk.2	-	38	6546	c.6297C>T	c.(6295-6297)gaC>gaT	p.D2099D	FLNA_uc011mzn.1_Silent_p.D232D|FLNA_uc010nuu.1_Silent_p.D2091D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2099					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCACGTCCCGTCCTCCAGGT	0.602													A	153581222	G	A	153581222	2	1	103	1	0	0	0	0	0	0	0	1	5933	1136	40	1		1	FLNA	23	153581222	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	19086873	153581222	1689338	110	6967											
NBPF1	55672	broad.mit.edu	37	1	16892156	16892156	+	Silent	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:16892156T>C	uc009vos.1	-	26	3924	c.3036A>G	c.(3034-3036)aaA>aaG	p.K1012K	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1012	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGCCAACATGTTTTTCCTCCA	0.438													C	16892156	T	C	16892156	2	2	104	1	0	0	0	0	0	0	0	1	10192	1722	60	4		4	NBPF1	1	16892156	Silent	SNP	T	TCGA-06-6695-01A-11D-1845-08		16892156	232358465	1	6968											
EPHA8	2046	broad.mit.edu	37	1	22924331	22924331	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:22924331G>A	uc001bfx.1	+	10	2218	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	698	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACATCATCCGCCTCGAGGGT	0.642													A	22924331	G	A	22924331	3	1	104	1	0	0	0	0	1	0	0	0	5173	1087	38	1	2308	1	EPHA8	1	22924331	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	6032175	22924331	226326290	2	6969											
ATP1A2	477	broad.mit.edu	37	1	160106465	160106465	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:160106465G>A	uc001fvc.3	+	18	2801	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q	ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R609Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	890					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGATGACCGGACCATGAAT	0.552													A	160106465	G	A	160106465	3	1	104	1	0	0	0	0	1	0	0	0	1129	1116	39	2	2743	2	ATP1A2	1	160106465	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	137182134	160106465	89144156	3	6970											
SLC26A9	115019	broad.mit.edu	37	1	205897957	205897957	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:205897957G>A	uc001hdp.3	-	7	1065	c.951C>T	c.(949-951)cgC>cgT	p.R317R	SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Silent_p.R317R	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	317						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGACTCACCCGCGTTGGATTT	0.577													A	205897957	G	A	205897957	2	1	104	1	0	0	0	0	0	0	0	1	14524	1074	38	1		1	SLC26A9	1	205897957	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	45791492	205897957	43352664	4	6971											
RYR2	6262	broad.mit.edu	37	1	237659969	237659969	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:237659969C>A	uc001hyl.1	+	19	2240	c.2120C>A	c.(2119-2121)cCt>cAt	p.P707H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	707	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.G707A(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)			TCTCCCTACCCTGGAGGGGGC	0.507													A	237659969	C	A	237659969	3	1	104	1	0	0	0	0	1	0	0	0	13769	681	24	5	2198	5	RYR2	1	237659969	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	31762012	237659969	11590652	5	6972											
EPAS1	2034	broad.mit.edu	37	2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:46608818G>A	uc002ruv.3	+	12	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	EPAS1_uc002ruw.3_Missense_Mutation_p.R176Q	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	710					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R710Q(4)|p.R710*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617													A	46608818	G	A	46608818	3	1	104	1	0	0	0	0	1	0	0	0	5150	1058	37	2	2179	2	EPAS1	2	46608818	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		46608818	196590555	6	6973											
GKN1	56287	broad.mit.edu	37	2	69207132	69207132	+	Missense_Mutation	SNP	G	G	A	rs145566771		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:69207132G>A	uc002sfc.3	+	4	508	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	149	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GAGCAAGTTCGGAAAAAACAT	0.507													A	69207132	G	A	69207132	3	1	104	1	0	0	0	0	1	0	0	0	6424	1117	39	2	463	2	GKN1	2	69207132	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	22598314	69207132	173992241	7	6974											
YSK4	80122	broad.mit.edu	37	2	135745418	135745418	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:135745418G>A	uc002tue.1	-	6	1055	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P229S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.P70S|YSK4_uc002tui.4_Missense_Mutation_p.P359S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	342							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTAACTGCAGGAATATTGCCT	0.368													A	135745418	G	A	135745418	3	1	104	1	0	0	0	0	1	0	0	0	17492	1174	41	3	2978	3	YSK4	2	135745418	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	66538286	135745418	107453955	8	6975											
RAPGEF4	11069	broad.mit.edu	37	2	173866027	173866027	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:173866027G>C	uc002uhv.4	+	16	1800	c.1613G>C	c.(1612-1614)tGt>tCt	p.C538S	RAPGEF4_uc002uhw.4_Missense_Mutation_p.C394S|RAPGEF4_uc010zec.1_Missense_Mutation_p.C385S|RAPGEF4_uc010zed.1_Missense_Mutation_p.C367S|RAPGEF4_uc010zee.1_Missense_Mutation_p.C385S|RAPGEF4_uc010fqo.2_Missense_Mutation_p.C367S|RAPGEF4_uc010zef.1_Missense_Mutation_p.C318S|RAPGEF4_uc010zeg.1_Missense_Mutation_p.C365S|RAPGEF4_uc010zeh.1_Missense_Mutation_p.C318S	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	538	N-terminal Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGATGCACTGTGTTTTTATG	0.398													C	173866027	G	C	173866027	3	2	104	1	0	0	0	0	1	0	0	0	13046	1377	48	5	1695	5	RAPGEF4	2	173866027	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	38120609	173866027	69333346	9	6976											
GRIP2	80852	broad.mit.edu	37	3	14555293	14555293	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:14555293G>A	uc021wtn.1	-	14	1807	c.1807C>T	c.(1807-1809)Cgt>Tgt	p.R603C	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	507	PDZ 5.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GACAGGACACGGTCCCCCACC	0.647													A	14555293	G	A	14555293	3	1	104	1	0	0	0	0	1	0	0	0	6788	1116	39	2	1659	2	GRIP2	3	14555293	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		14555293	183467137	10	6977											
SCN5A	6331	broad.mit.edu	37	3	38645338	38645338	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:38645338G>A	uc021wvo.1	-	10	1807	c.1755C>T	c.(1753-1755)caC>caT	p.H585H	SCN5A_uc021wvk.1_Silent_p.H585H|SCN5A_uc021wvl.1_Silent_p.H585H|SCN5A_uc021wvm.1_Silent_p.H585H|SCN5A_uc021wvn.1_Silent_p.H585H|SCN5A_uc021wvp.1_Silent_p.H585H|SCN5A_uc021wvq.1_Silent_p.H585H|SCN5A_uc021wvr.1_Silent_p.H585H|SCN5A_uc021wvs.1_Silent_p.H585H|SCN5A_uc021wvt.1_Silent_p.H585H|SCN5A_uc021wvu.1_Silent_p.H585H|SCN5A_uc021wvv.1_Silent_p.H585H|SCN5A_uc021wvj.1_Silent_p.H451H|SCN5A_uc021wvi.1_Silent_p.H451H|SCN5A_uc021wvw.1_Silent_p.H196H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	585					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATGGAGGGCGTGGCCAGGAG	0.662													A	38645338	G	A	38645338	2	1	104	1	0	0	0	0	0	0	0	1	13922	1136	40	1		1	SCN5A	3	38645338	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	24090045	38645338	159377092	11	6978											
CADPS	8618	broad.mit.edu	37	3	62423805	62423805	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:62423805C>T	uc003dll.2	-	27	4111	c.3751G>A	c.(3751-3753)Gag>Aag	p.E1251K	CADPS_uc003dlj.1_Missense_Mutation_p.E206K|CADPS_uc003dlk.1_Missense_Mutation_p.E699K|CADPS_uc003dlm.2_Missense_Mutation_p.E1212K|CADPS_uc003dln.2_Missense_Mutation_p.E1172K|CADPS_uc021wzv.1_Missense_Mutation_p.E1242K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1251	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGTACATCTCCTCATTGACC	0.458													T	62423805	C	T	62423805	3	4	104	1	0	0	0	0	1	0	0	0	2570	864	30	3	322	3	CADPS	3	62423805	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	23778467	62423805	135598625	12	6979											
ADCY5	111	broad.mit.edu	37	3	123008753	123008753	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:123008753C>T	uc003egh.2	-	18	3376	c.3376G>A	c.(3376-3378)Ggc>Agc	p.G1126S	ADCY5_uc021xdd.1_Missense_Mutation_p.G776S|ADCY5_uc003egg.2_Missense_Mutation_p.G784S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1126	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TAGGTGCTGCCGATGGTCTTG	0.592													T	123008753	C	T	123008753	3	4	104	1	0	0	0	0	1	0	0	0	297	652	23	2	421	2	ADCY5	3	123008753	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	60584948	123008753	75013677	13	6980											
LRPAP1	4043	broad.mit.edu	37	4	3534104	3534104	+	Silent	SNP	C	C	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:3534104C>G	uc003ghh.4	-	0	121	c.36G>C	c.(34-36)ggG>ggC	p.G12G		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	12					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGCCGGGAGCCCGCGCAGAA	0.706													G	3534104	C	G	3534104	2	3	104	1	0	0	0	0	0	0	0	1	8964	726	26	5		5	LRPAP1	4	3534104	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		3534104	187620172	14	6981											
OTOP1	133060	broad.mit.edu	37	4	4190625	4190625	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:4190625G>T	uc003ghp.1	-	5	1774	c.1744C>A	c.(1744-1746)Ccc>Acc	p.P582T		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	582					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTATCCAGGGTTCAAAGCCA	0.463													T	4190625	G	T	4190625	3	4	104	1	0	0	0	0	1	0	0	0	11305	1261	44	5	98	5	OTOP1	4	4190625	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	656521	4190625	186963651	15	6982											
ARHGAP10	79658	broad.mit.edu	37	4	148944421	148944421	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:148944421G>A	uc003ilf.3	+	18	1724	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	ARHGAP10_uc003ilg.3_Missense_Mutation_p.R224Q|ARHGAP10_uc003ilh.3_Missense_Mutation_p.R156Q|ARHGAP10_uc003ili.3_Missense_Mutation_p.R8Q	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	575					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAGATTTTTCGGACGCCGCCC	0.488													A	148944421	G	A	148944421	3	1	104	1	0	0	0	0	1	0	0	0	862	1116	39	2	1798	2	ARHGAP10	4	148944421	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	144753796	148944421	42209855	16	6983											
PIK3R1	5295	broad.mit.edu	37	5	67589149	67589151	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:67589149_67589151delATT	uc003jva.3	+	9	1717_1719	c.1137_1139delATT	c.(1135-1140)aaatta>aaa	p.L380del	PIK3R1_uc003jvc.3_In_Frame_Del_p.L80del|PIK3R1_uc003jvd.3_In_Frame_Del_p.L110del|PIK3R1_uc003jve.3_In_Frame_Del_p.L59del|PIK3R1_uc021xzn.1_In_Frame_Del_p.L17del|PIK3R1_uc011crb.2_In_Frame_Del_p.L50del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	380	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L380del(2)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAATAACAAATTAATCAAAATA	0.305			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589151	ATT	-	67589149	7	5	104	1	0	1	0	1	0	0	0	0	11918	98	4	0	1301	0	PIK3R1	5	67589149	In_Frame_Del	DEL	ATT	TCGA-06-6695-01A-11D-1845-08		67589149	113326111	17	6984											
PRR16	51334	broad.mit.edu	37	5	120021674	120021674	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:120021674C>A	uc003ksq.3	+	1	348	c.185C>A	c.(184-186)aCc>aAc	p.T62N	PRR16_uc003ksp.3_Missense_Mutation_p.T39N|PRR16_uc003ksr.3_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	62										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GACACCCTGACCTCTGACCTA	0.443													A	120021674	C	A	120021674	3	1	104	1	0	0	0	0	1	0	0	0	12589	507	18	5	122	5	PRR16	5	120021674	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	52432525	120021674	60893586	18	6985											
MATR3	9782	broad.mit.edu	37	5	138658286	138658286	+	Splice_Site	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:138658286G>A	uc003ldw.3	+	13	2182	c.1779_splice	c.e13-1	p.R593_splice	MATR3_uc003ldt.3_Splice_Site_p.R255_splice|MATR3_uc003ldu.3_Splice_Site_p.R593_splice|MATR3_uc010jfb.3_Splice_Site_p.R593_splice|MATR3_uc003ldx.3_Splice_Site_p.R593_splice|MATR3_uc003ldy.3_Splice_Site_p.R270_splice|MATR3_uc003ldz.3_Splice_Site_p.R593_splice|MATR3_uc011czb.2_Splice_Site_p.R305_splice|MATR3_uc003leb.3_Splice_Site_p.R255_splice|MATR3_uc003lec.3_Splice_Site_p.R270_splice	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	593						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTGATTTCAGAAAAAGATCT	0.338													A	138658286	G	A	138658286	5	1	104	1	0	0	0	0	0	0	1	0	9337	956	33	3	1820	3	MATR3	5	138658286	Splice_Site	SNP	G	TCGA-06-6695-01A-11D-1845-08	18636612	138658286	42256974	19	6986											
ARSI	340075	broad.mit.edu	37	5	149677472	149677472	+	Missense_Mutation	SNP	G	G	A	rs149628658	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:149677472G>A	uc003lrv.2	-	1	1604	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	339						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCTTGTCCGTTGCTTTCGC	0.627													A	149677472	G	A	149677472	3	1	104	1	0	0	0	0	1	0	0	0	994	1144	40	1	698	1	ARSI	5	149677472	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	11019186	149677472	31237788	20	6987											
FLT4	2324	broad.mit.edu	37	5	180041121	180041121	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:180041121G>A	uc003mlz.4	-	23	3357	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M	FLT4_uc003mma.4_Missense_Mutation_p.T1093M	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1093	Protein kinase.				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)	GTCACTCTGCGTGGTGTACAC	0.622													A	180041121	G	A	180041121	3	1	104	1	0	0	0	0	1	0	0	0	5944	1145	40	1	849	1	FLT4	5	180041121	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	30363649	180041121	874139	21	6988											
DNAH8	1769	broad.mit.edu	37	6	38704949	38704949	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:38704949G>T	uc021yzh.1	+	5	978	c.869G>T	c.(868-870)gGt>gTt	p.G290V	DNAH8_uc003ooe.2_Missense_Mutation_p.G73V	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						AACAACTGGGGTGCTTTAAAC	0.353													T	38704949	G	T	38704949	3	4	104	1	0	0	0	0	1	0	0	0	4607	1261	44	5	224	5	DNAH8	6	38704949	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		38704949	132410118	22	6989											
PKHD1	5314	broad.mit.edu	37	6	51900449	51900449	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:51900449C>T	uc003pah.1	-	27	3444	c.3168G>A	c.(3166-3168)tcG>tcA	p.S1056S	PKHD1_uc003pai.3_Silent_p.S1056S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1056	IPT/TIG 5.				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.S1056W(1)		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)					TGATGGCACACGAGTAAGATC	0.453													T	51900449	C	T	51900449	2	4	104	1	0	0	0	0	0	0	0	1	11971	523	19	1		1	PKHD1	6	51900449	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08	13195500	51900449	119214618	23	6990											
KHDRBS2	202559	broad.mit.edu	37	6	62604661	62604661	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:62604661C>T	uc003peg.2	-	5	936	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	230	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.T229T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAGCGCTCCACGGGTTACAGT	0.627													T	62604661	C	T	62604661	3	4	104	1	0	0	0	0	1	0	0	0	8147	536	19	1	376	1	KHDRBS2	6	62604661	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	10704212	62604661	108510406	24	6991											
BCKDHB	594	broad.mit.edu	37	6	80881059	80881059	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:80881059A>G	uc003pjd.2	+	5	761	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E	BCKDHB_uc003pje.2_Missense_Mutation_p.K232E	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	232					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CATAGAGGATAAAAATCCTTG	0.294													G	80881059	A	G	80881059	3	3	104	1	0	0	0	0	1	0	0	0	1360	363	13	4	716	4	BCKDHB	6	80881059	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	18276398	80881059	90234008	25	6992											
AIM1	202	broad.mit.edu	37	6	106999811	106999811	+	Silent	SNP	A	A	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:106999811A>T	uc003prh.3	+	11	5085	c.4173A>T	c.(4171-4173)ggA>ggT	p.G1391G	AIM1_uc003pri.3_Silent_p.G195G	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1391	Beta/gamma crystallin 'Greek key' 8.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGACTGGGGAGGCAAAAATT	0.338													T	106999811	A	T	106999811	2	4	104	1	0	0	0	0	0	0	0	1	430	291	11	5		5	AIM1	6	106999811	Silent	SNP	A	TCGA-06-6695-01A-11D-1845-08	26118752	106999811	64115256	26	6993											
SPDYE1	285955	broad.mit.edu	37	7	44046879	44046879	+	Silent	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:44046879T>C	uc003tjf.3	+	4	781	c.645T>C	c.(643-645)aaT>aaC	p.N215N	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron|AX747182_uc003tjg.1_Non-coding_Transcript	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	215										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ACCTGGCCAATGACATGGAGG	0.567													C	44046879	T	C	44046879	2	2	104	1	0	0	0	0	0	0	0	1	15028	1461	51	4		4	SPDYE1	7	44046879	Silent	SNP	T	TCGA-06-6695-01A-11D-1845-08		44046879	115091784	27	6994											
EGFR	1956	broad.mit.edu	37	7	55249017	55249018	+	In_Frame_Ins	INS	-	-	CCACGT	rs121913445		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:55249017_55249018insCCACGT	uc003tqk.3	+	19	2561_2562	c.2315_2316insCCACGT	c.(2314-2316)ccc>ccCCACGTc	p.774_775insHV	EGFR_uc022adm.1_In_Frame_Ins_p.774_775insHV|EGFR_uc010kzg.2_In_Frame_Ins_p.729_730insHV|EGFR_uc022adn.1_In_Frame_Ins_p.729_730insHV|EGFR_uc011kco.2_In_Frame_Ins_p.721_722insHV|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.9_10insHV	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	774	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H773_V774insNPH(15)|p.P772_H773insPR(11)|p.H773R(9)|p.V774M(5)|p.V774_C775insHV(4)|p.P772_H773insX(4)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.C775Y(2)|p.P772_H773insYNP(2)|p.P772_H773insV(2)|p.H773L(2)|p.H773Y(2)|p.P772_H773insTHP(2)|p.P772_H773insHV(2)|p.H773>NPY(2)|p.C775R(1)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.H773_V774insQ(1)|p.H773_V774insGNPH(1)|p.V774del(1)|p.D770_P772>ASVDNR(1)|p.V774L(1)|p.P772_H773insDHP(1)|p.P772_H773insDNP(1)|p.P772_H773insQV(1)|p.N771_P772>SVDNR(1)|p.H773_V774>LM(1)|p.P772P(1)|p.P772R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGGACAACCCCCACGTGTGCC	0.644		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			CCACGT	55249018	-	CCACGT	55249017	7	5	104	1	0	1	1	0	0	0	0	0	4967	623	22	0	2657	0	EGFR	7	55249017	In_Frame_Ins	INS	-	TCGA-06-6695-01A-11D-1845-08	11202138	55249017	103889646	28	6995											
CLDN4	1364	broad.mit.edu	37	7	73245947	73245947	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:73245947C>T	uc003tzi.4	+	0	755	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	139					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTGTCCTGGACGGCCCACAAC	0.632													T	73245947	C	T	73245947	3	4	104	1	0	0	0	0	1	0	0	0	3487	536	19	1	418	1	CLDN4	7	73245947	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	17996930	73245947	85892716	29	6996											
SAMD9	54809	broad.mit.edu	37	7	92733004	92733004	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:92733004C>T	uc003umf.3	-	2	2677	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	SAMD9_uc003umg.3_Missense_Mutation_p.E803K|SAMD9_uc022ahg.1_Missense_Mutation_p.E803K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	803						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTATCTTGTTCTTCAAAATCA	0.353													T	92733004	C	T	92733004	3	4	104	1	0	0	0	0	1	0	0	0	13826	922	32	3	2366	3	SAMD9	7	92733004	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	19487057	92733004	66405659	30	6997											
GIMAP4	55303	broad.mit.edu	37	7	150269429	150269429	+	Missense_Mutation	SNP	G	G	A	rs137872040		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:150269429G>A	uc003whl.3	+	2	353	c.271G>A	c.(271-273)Gac>Aac	p.D91N	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.D105N	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	91							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCATTTTCGACACAGAGGT	0.507													A	150269429	G	A	150269429	3	1	104	1	0	0	0	0	1	0	0	0	6381	1058	37	2	277	2	GIMAP4	7	150269429	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	57536425	150269429	8869234	31	6998											
EPPK1	83481	broad.mit.edu	37	8	144940800	144940800	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr8:144940800G>C	uc003zaa.1	-	0	6635	c.6622C>G	c.(6622-6624)Caa>Gaa	p.Q2208E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2208						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGAGCTCTTGCGTCGTGCTC	0.622													C	144940800	G	C	144940800	3	2	104	1	0	0	0	0	1	0	0	0	5190	1328	46	5	644	5	EPPK1	8	144940800	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		144940800	1423222	32	6999											
FAM75C1	441452	broad.mit.edu	37	9	90536103	90536103	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:90536103C>T	uc010mqi.3	+	3	1310	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	FAM75C1_uc004apq.4_Silent_p.D410D	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AATCTCAGGACGTCTTTAGTG	0.493													T	90536103	C	T	90536103	2	4	104	1	0	0	0	0	0	0	0	1	5623	535	19	1		1	FAM75C1	9	90536103	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		90536103	50677328	33	7000											
GFI1B	8328	broad.mit.edu	37	9	135866288	135866288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:135866288G>A	uc004ccg.3	+	6	1199	c.844G>A	c.(844-846)Gga>Aga	p.G282R	GFI1B_uc010mzy.3_Missense_Mutation_p.G236R	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	282	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCAGGTGTGCGGAAAGGCCTT	0.647													A	135866288	G	A	135866288	3	1	104	1	0	0	0	0	1	0	0	0	6340	1117	39	2	866	2	GFI1B	9	135866288	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	45330185	135866288	5347143	34	7001											
ADARB2	105	broad.mit.edu	37	10	1284235	1284235	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:1284235C>T	uc009xhq.3	-	4	1646	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	440	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		AGTGCAGGAACGCCCGCCGGG	0.706													T	1284235	C	T	1284235	2	4	104	1	0	0	0	0	0	0	0	1	283	523	19	1		1	ADARB2	10	1284235	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		1284235	134250512	35	7002											
C10orf71	118461	broad.mit.edu	37	10	50530623	50530623	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:50530623G>A	uc021pqb.1	+	0	33	c.33G>A	c.(31-33)gcG>gcA	p.A11A	C10orf71_uc021pqa.1_Silent_p.A10A|C10orf71_uc021pqc.1_Silent_p.A11A	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	11								p.A11A(2)		endometrium(1)	1						GCACAGACGCGTTCAGCGACT	0.542													A	50530623	G	A	50530623	2	1	104	1	0	0	0	0	0	0	0	1	1614	1132	40	1		1	C10orf71	10	50530623	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	49246388	50530623	85004124	36	7003											
ANK3	288	broad.mit.edu	37	10	62149275	62149275	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:62149275A>C	uc001jky.3	-	0	360	c.22T>G	c.(22-24)Tta>Gta	p.L8V	ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jlb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	8					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTTCTTTAATTGTGAGGCT	0.423													C	62149275	A	C	62149275	3	2	104	1	0	0	0	0	1	0	0	0	622	98	4	5	13616	5	ANK3	10	62149275	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	11618652	62149275	73385472	37	7004											
ECHS1	1892	broad.mit.edu	37	10	135183513	135183513	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:135183513C>T	uc001lmu.3	-	2	380	c.309G>A	c.(307-309)atG>atA	p.M103I		NM_004092	NP_004083	P30084	ECHM_HUMAN	Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.	103					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TCAGGTTCTGCATTTCCTTGA	0.517													T	135183513	C	T	135183513	3	4	104	1	0	0	0	0	1	0	0	0	4896	710	25	3	587	3	ECHS1	10	135183513	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	73034238	135183513	351234	38	7005											
KBTBD4	55709	broad.mit.edu	37	11	47594600	47594600	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:47594600C>G	uc001nfx.3	-	3	1610	c.1439G>C	c.(1438-1440)cGg>cCg	p.R480P	PTPMT1_uc001nfs.4_3'UTR|PTPMT1_uc001nfv.4_3'UTR|PTPMT1_uc009ylt.3_3'UTR|PTPMT1_uc001nfu.4_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Missense_Mutation_p.R505P|KBTBD4_uc001nfz.3_Missense_Mutation_p.R496P|KBTBD4_uc001nfy.3_Missense_Mutation_p.R480P	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	480										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATATCGGTCCCGGAAGACATA	0.527													G	47594600	C	G	47594600	3	3	104	1	0	0	0	0	1	0	0	0	7995	652	23	5	121	5	KBTBD4	11	47594600	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		47594600	87411916	39	7006											
OR5AR1	219493	broad.mit.edu	37	11	56432005	56432005	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:56432005A>G	uc010rjm.2	+	0	844	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CACGGTTATCATCCCCATGTT	0.423													G	56432005	A	G	56432005	3	3	104	1	0	0	0	0	1	0	0	0	11145	217	8	4	846	4	OR5AR1	11	56432005	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	8837405	56432005	78574511	40	7007											
PRSS23	11098	broad.mit.edu	37	11	86519032	86519032	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:86519032G>A	uc021qok.1	+	0	347	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.R84Q|PRSS23_uc001pcb.3_Missense_Mutation_p.R116Q	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	116					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCAACACCGAGACTCAGGG	0.517													A	86519032	G	A	86519032	3	1	104	1	0	0	0	0	1	0	0	0	12620	1058	37	2	349	2	PRSS23	11	86519032	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	30087027	86519032	48487484	41	7008											
PVRL1	5818	broad.mit.edu	37	11	119510587	119510587	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:119510587G>A	uc001pwu.1	-	5	1311	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M		NM_203285	NP_976030	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 2, mRNA.	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGCCCCATCCGTCTCCGGTGG	0.622													A	119510587	G	A	119510587	3	1	104	1	0	0	0	0	1	0	0	0	12839	1145	40	1	249	1	PVRL1	11	119510587	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	32991555	119510587	15495929	42	7009											
KIRREL3	84623	broad.mit.edu	37	11	126343282	126343282	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:126343282G>A	uc001qea.3	-	4	874	c.513C>T	c.(511-513)caC>caT	p.H171H	KIRREL3_uc001qeb.3_Silent_p.H171H|KIRREL3_uc001qec.1_Silent_p.H171H	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	171	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			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)		CATTGTCTGCGTGGCAGGTGA	0.642													A	126343282	G	A	126343282	2	1	104	1	0	0	0	0	0	0	0	1	8326	1136	40	1		1	KIRREL3	11	126343282	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	6832695	126343282	8663234	43	7010											
A2M	2	broad.mit.edu	37	12	9230302	9230302	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:9230302T>C	uc001qvk.1	-	25	3384	c.3271A>G	c.(3271-3273)Ata>Gta	p.I1091V	A2M_uc009zgk.1_Missense_Mutation_p.I941V	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1091					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTCACCTTTATGGCATTGTTG	0.443													C	9230302	T	C	9230302	3	2	104	1	0	0	0	0	1	0	0	0	4	1464	51	4	1197	4	A2M	12	9230302	Missense_Mutation	SNP	T	TCGA-06-6695-01A-11D-1845-08		9230302	124621593	44	7011											
PZP	5858	broad.mit.edu	37	12	9345184	9345184	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:9345184G>A	uc001qvl.3	-	11	1435	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PZP_uc009zgl.3_Missense_Mutation_p.T338M	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.T469M(2)|p.T338M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATAGTCTCCGTGTGGCCACA	0.512													A	9345184	G	A	9345184	3	1	104	1	0	0	0	0	1	0	0	0	12869	1145	40	1	3142	1	PZP	12	9345184	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	114882	9345184	124506711	45	7012											
KLRC1	3821	broad.mit.edu	37	12	10600149	10600149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:10600149C>T	uc001qyl.3	-	5	786	c.572G>A	c.(571-573)gGt>gAt	p.G191D	KLRC1_uc009zhm.2_Missense_Mutation_p.G191D|KLRC1_uc001qym.3_Missense_Mutation_p.G173D|KLRC1_uc001qyn.3_Missense_Mutation_p.G191D|KLRC1_uc001qyo.3_Missense_Mutation_p.G173D	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	191	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						GAAAGCCAAACCATTCATTGT	0.323													T	10600149	C	T	10600149	3	4	104	1	0	0	0	0	1	0	0	0	8415	507	18	3	137	3	KLRC1	12	10600149	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	1254965	10600149	123251746	46	7013											
LRRK2	120892	broad.mit.edu	37	12	40715936	40715936	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:40715936A>G	uc001rmg.4	+	35	5391	c.5270A>G	c.(5269-5271)aAt>aGt	p.N1757S	LRRK2_uc009zjw.3_Missense_Mutation_p.N595S|LRRK2_uc001rmi.3_Missense_Mutation_p.N590S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1757					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCTTAGACAATCATCCAGAG	0.353													G	40715936	A	G	40715936	3	3	104	1	0	0	0	0	1	0	0	0	9033	101	4	4	5412	4	LRRK2	12	40715936	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	30115787	40715936	93135959	47	7014											
COL2A1	1280	broad.mit.edu	37	12	48372465	48372465	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:48372465G>A	uc001rqu.3	-	41	2991	c.2810C>T	c.(2809-2811)cCc>cTc	p.P937L	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P868L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	937	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCGGCCAGGGGGGCCGCTGTC	0.632													A	48372465	G	A	48372465	3	1	104	1	0	0	0	0	1	0	0	0	3687	1232	43	3	1705	3	COL2A1	12	48372465	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	7656529	48372465	85479430	48	7015											
WNT1	7471	broad.mit.edu	37	12	49374347	49374348	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:49374347_49374348insG	uc001rsu.3	+	2	697_698	c.499_500insG	c.(499-501)tggfs	p.W167fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	167					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.G169fs*30(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		cgACTGGCACTGGGGGGGCTGC	0.683													G	49374348	-	G	49374347	7	5	104	1	0	1	1	0	0	0	0	0	17378	1580	55	0	509	0	WNT1	12	49374347	Frame_Shift_Ins	INS	-	TCGA-06-6695-01A-11D-1845-08	1001882	49374347	84477548	49	7016											
PA2G4	5036	broad.mit.edu	37	12	56505022	56505022	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:56505022C>T	uc001sjm.3	+	10	1413	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	332	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGCCCCATGCGGATAACCAG	0.438													T	56505022	C	T	56505022	3	4	104	1	0	0	0	0	1	0	0	0	11361	759	27	1	1036	1	PA2G4	12	56505022	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	7130675	56505022	77346873	50	7017											
GRIP1	23426	broad.mit.edu	37	12	66788078	66788078	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:66788078C>T	uc001stk.3	-	15	2124	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	GRIP1_uc010sta.1_Missense_Mutation_p.G572E|GRIP1_uc001stj.3_Missense_Mutation_p.G410E|GRIP1_uc001stm.3_Missense_Mutation_p.G628E|GRIP1_uc001stl.1_Missense_Mutation_p.G520E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	680	PDZ 5.				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			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)		AAGGGGCCCCCCGTAGCGTTT	0.413													T	66788078	C	T	66788078	3	4	104	1	0	0	0	0	1	0	0	0	6787	623	22	3	1383	3	GRIP1	12	66788078	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	10283056	66788078	67063817	51	7018											
COL4A1	1282	broad.mit.edu	37	13	110819539	110819539	+	Silent	SNP	A	A	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr13:110819539A>C	uc001vqw.4	-	43	4037	c.3915T>G	c.(3913-3915)ggT>ggG	p.G1305G		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1305	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.K1304K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCCCATATCACCCTTAGAGC	0.507													C	110819539	A	C	110819539	2	2	104	1	0	0	0	0	0	0	0	1	3689	146	6	5		5	COL4A1	13	110819539	Silent	SNP	A	TCGA-06-6695-01A-11D-1845-08		110819539	4350339	52	7019											
AHNAK2	113146	broad.mit.edu	37	14	105409917	105409917	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr14:105409917G>A	uc010axc.1	-	6	11991	c.11871C>T	c.(11869-11871)gcC>gcT	p.A3957A	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A3857A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3957						nucleus				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)			TGTCCTTGTCGGCCAGGGACA	0.622													A	105409917	G	A	105409917	2	1	104	1	0	0	0	0	0	0	0	1	415	1103	39	2		2	AHNAK2	14	105409917	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08		105409917	1939623	53	7020											
LRRK1	79705	broad.mit.edu	37	15	101464858	101464859	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr15:101464858_101464859insC	uc002bwr.3	+	1	340_341	c.21_22insC	c.(19-24)agacccfs	p.R7fs	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Frame_Shift_Ins_p.R7fs	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	7					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCGCAAAGACCCCCCAGCAT	0.594													C	101464859	-	C	101464858	7	5	104	1	0	1	1	0	0	0	0	0	9032	272	10	0	23	0	LRRK1	15	101464858	Frame_Shift_Ins	INS	-	TCGA-06-6695-01A-11D-1845-08		101464858	1066534	54	7021											
AXIN1	8312	broad.mit.edu	37	16	347056	347056	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:347056C>G	uc002cgp.2	-	7	2344	c.1955_splice	c.e7+1	p.G652_splice	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Splice_Site_p.G652_splice	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	652	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGGTGCTCACCCGTGGCCGGT	0.627													G	347056	C	G	347056	3	3	104	1	0	0	0	0	1	0	0	0	1236	637	22	5	653	5	AXIN1	16	347056	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		347056	90007697	55	7022											
ERCC4	2072	broad.mit.edu	37	16	14041971	14041971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:14041971G>A	uc002dce.2	+	10	2527	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K	ERCC4_uc010uyz.1_Missense_Mutation_p.E390K	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	840	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCCTTCCCGAGTCAGAGAA	0.498			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	14041971	G	A	14041971	3	1	104	1	0	0	0	0	1	0	0	0	5215	1059	37	2	2560	2	ERCC4	16	14041971	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	13694915	14041971	76312782	56	7023											
PLCG2	5336	broad.mit.edu	37	16	81953271	81953271	+	Splice_Site	SNP	T	T	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:81953271T>A	uc002fgt.3	+	20	2413	c.2235_splice	c.e20+2	p.M745_splice	PLCG2_uc010chg.1_Splice_Site_p.M745_splice	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	745				M -> T (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815).	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TACAATATGGTAGGTGGTGGA	0.493													A	81953271	T	A	81953271	5	1	104	1	0	0	0	0	0	0	1	0	12036	1652	57	5	2311	5	PLCG2	16	81953271	Splice_Site	SNP	T	TCGA-06-6695-01A-11D-1845-08	67911300	81953271	8401482	57	7024											
ANKRD11	29123	broad.mit.edu	37	16	89347130	89347130	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:89347130G>A	uc002fmx.1	-	8	6281	c.5820C>T	c.(5818-5820)agC>agT	p.S1940S	ANKRD11_uc002fmy.1_Silent_p.S1940S|ANKRD11_uc002fnc.1_Silent_p.S1940S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.S1897S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1940	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGATGACGGCGCTGAAGGGAC	0.692													A	89347130	G	A	89347130	2	1	104	1	0	0	0	0	0	0	0	1	639	1078	38	1		1	ANKRD11	16	89347130	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	7393859	89347130	1007623	58	7025											
OR3A2	4995	broad.mit.edu	37	17	3181517	3181517	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr17:3181517C>T	uc002fvg.3	-	0	752	c.713G>A	c.(712-714)cGt>cAt	p.R238H		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	238					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CTCCACTGAACGGATTCGTAG	0.527													T	3181517	C	T	3181517	3	4	104	1	0	0	0	0	1	0	0	0	11038	536	19	1	256	1	OR3A2	17	3181517	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		3181517	78013693	59	7026											
C19orf35	374872	broad.mit.edu	37	19	2278840	2278840	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:2278840C>T	uc002lvn.2	-	2	455	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	119										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		CCCAGTGGGGCGTCAGCCGGG	0.677													T	2278840	C	T	2278840	3	4	104	1	0	0	0	0	1	0	0	0	1920	768	27	1	1074	1	C19orf35	19	2278840	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		2278840	56850143	60	7027											
TNFSF9	8744	broad.mit.edu	37	19	6535006	6535006	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:6535006G>A	uc002mfh.2	+	2	732	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	232					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.G231G(2)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TACCCAGGGCGCCACAGTCTT	0.662													A	6535006	G	A	6535006	3	1	104	1	0	0	0	0	1	0	0	0	16309	1087	38	1	704	1	TNFSF9	19	6535006	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	4256166	6535006	52593977	61	7028											
TNPO2	30000	broad.mit.edu	37	19	12813636	12813636	+	Splice_Site	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:12813636C>T	uc002mup.3	-	19	3043	c.2581_splice	c.e19+1	p.A861_splice	TNPO2_uc002muq.3_Splice_Site_p.A769_splice|TNPO2_uc002muo.3_Splice_Site_p.G769_splice|TNPO2_uc002mur.3_Splice_Site_p.A769_splice	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	779					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTGCCCACCTGTGTTTTC	0.582													T	12813636	C	T	12813636	5	4	104	1	0	0	0	0	0	0	1	0	16333	521	18	3	407	3	TNPO2	19	12813636	Splice_Site	SNP	C	TCGA-06-6695-01A-11D-1845-08	6278630	12813636	46315347	62	7029											
KIR3DL2	3811	broad.mit.edu	37	19	55327961	55327961	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:55327961G>A	uc002qhl.4	+	0	69	c.6G>A	c.(4-6)tcG>tcA	p.S2S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc010esf.3_Silent_p.S2S|KIR3DL2_uc021vbo.1_Silent_p.S2S|KIR3DL2_uc002qhk.4_Silent_p.S2S			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	2					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCACCATGTCGCTCATGGTCG	0.597											OREG0003676	type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	55327961	G	A	55327961	2	1	104	1	0	0	0	0	0	0	0	1	8321	1074	38	1		1	KIR3DL2	19	55327961	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	42514325	55327961	3801022	63	7030											
HCK	3055	broad.mit.edu	37	20	30674579	30674579	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr20:30674579C>T	uc002wxh.3	+	8	1221	c.984C>T	c.(982-984)ccC>ccT	p.P328P	HCK_uc010gdy.3_Silent_p.P308P|HCK_uc021wbv.1_Silent_p.P307P|HCK_uc002wxi.3_Silent_p.P306P	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	328	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCAAGGAGCCCATCTACATCA	0.587													T	30674579	C	T	30674579	2	4	104	1	0	0	0	0	0	0	0	1	6994	581	21	3		3	HCK	20	30674579	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		30674579	32350941	64	7031											
DUSP18	150290	broad.mit.edu	37	22	31059768	31059768	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:31059768G>A	uc003aiu.3	-	1	724	c.223C>T	c.(223-225)Cct>Tct	p.P75S	SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Intron|DUSP18_uc003aiw.1_Missense_Mutation_p.P75S|DUSP18_uc021wnv.1_Missense_Mutation_p.P75S	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA.	75						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CGTGAGTTAGGGGAGTCAGCC	0.507													A	31059768	G	A	31059768	3	1	104	1	0	0	0	0	1	0	0	0	4817	1232	43	3	347	3	DUSP18	22	31059768	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		31059768	20244798	65	7032											
CYP2D6	1565	broad.mit.edu	37	22	42525154	42525154	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:42525154C>T	uc003bce.3	-	2	476	c.386G>A	c.(385-387)cGc>cAc	p.R129H	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Intron|CYP2D6_uc003bcf.3_Intron	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	129							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTCTGCTCGCGCCACGCGGG	0.687													T	42525154	C	T	42525154	3	4	104	1	0	0	0	0	1	0	0	0	4169	768	27	1	1135	1	CYP2D6	22	42525154	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	11465386	42525154	8779412	66	7033											
MOV10L1	54456	broad.mit.edu	37	22	50581577	50581577	+	Missense_Mutation	SNP	G	G	A	rs140536899		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:50581577G>A	uc003bjj.3	+	16	2368	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	MOV10L1_uc003bjk.4_Missense_Mutation_p.R762H|MOV10L1_uc011arp.2_Missense_Mutation_p.R742H|MOV10L1_uc011arq.1_Missense_Mutation_p.R523H	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	762					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGTGACTGCCGTCCCCTCCCG	0.468													A	50581577	G	A	50581577	3	1	104	1	0	0	0	0	1	0	0	0	9719	1145	40	1	2392	1	MOV10L1	22	50581577	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	8056423	50581577	722989	67	7034											
IL13RA2	3598	broad.mit.edu	37	X	114249014	114249014	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chrX:114249014C>T	uc004epx.3	-	3	495	c.370G>A	c.(370-372)Gca>Aca	p.A124T	IL13RA2_uc010nqd.1_Missense_Mutation_p.A124T|IL13RA2_uc022cdb.1_Missense_Mutation_p.A124T	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	124	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTAGTTTCTGCCCAGGAACTT	0.363													T	114249014	C	T	114249014	3	4	104	1	0	0	0	0	1	0	0	0	7630	739	26	3	800	3	IL13RA2	23	114249014	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		114249014	41021546	68	7035											
PRAMEF2	65122	broad.mit.edu	37	1	12919080	12919080	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:12919080G>A	uc001aum.1	+	1	303	c.216G>A	c.(214-216)acG>acA	p.T72T		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	72			T -> R (in dbSNP:rs9659529).							breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGAAGACGCTTCATCTGG	0.552													A	12919080	G	A	12919080	2	1	105	1	0	0	0	0	0	0	0	1	12435	1074	38	1		1	PRAMEF2	1	12919080	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08		12919080	236331541	1	7036											
SPEN	23013	broad.mit.edu	37	1	16199442	16199442	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:16199442G>C	uc001axk.1	+	1	419	c.215G>C	c.(214-216)aGa>aCa	p.R72T	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	72	RRM 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATGGGTGACAGAGACCTACGC	0.493													C	16199442	G	C	16199442	3	2	105	1	0	0	0	0	1	0	0	0	15037	942	33	5	221	5	SPEN	1	16199442	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	3280362	16199442	233051179	2	7037											
TCEA3	6920	broad.mit.edu	37	1	23720438	23720438	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:23720438G>A	uc021oig.1	-	7	888	c.753C>T	c.(751-753)ccC>ccT	p.P251P	TCEA3_uc009vqm.2_Silent_p.P20P	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	251	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GCCGCAGGCCGGGGTTCCTGG	0.597													A	23720438	G	A	23720438	2	1	105	1	0	0	0	0	0	0	0	1	15666	1103	39	2		2	TCEA3	1	23720438	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	7520996	23720438	225530183	3	7038											
MPL	4352	broad.mit.edu	37	1	43817970	43817970	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:43817970G>A	uc001ciw.3	+	10	1694	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N	MPL_uc009vwr.3_Missense_Mutation_p.S543N	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	550					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAGCCCTGAGCCCGGTGAGT	0.607			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						A	43817970	G	A	43817970	3	1	105	1	0	0	0	0	1	0	0	0	9730	971	34	3	1691	3	MPL	1	43817970	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	20097532	43817970	205432651	4	7039											
DAB1	1600	broad.mit.edu	37	1	57480758	57480758	+	Silent	SNP	C	C	T	rs147876561	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:57480758C>T	uc009vzx.1	-	11	1562	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	DAB1_uc001cyt.1_Silent_p.T412T|DAB1_uc001cyq.1_Silent_p.T412T|DAB1_uc001cyr.1_Silent_p.T328T|DAB1_uc009vzw.1_Silent_p.T396T|DAB1_uc001cys.1_Silent_p.T414T	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	447					cell differentiation|nervous system development					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						AATCCTTAAACGTTTCTTTGC	0.602													T	57480758	C	T	57480758	2	4	105	1	0	0	0	0	0	0	0	1	4217	523	19	1		1	DAB1	1	57480758	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08	13662788	57480758	191769863	5	7040											
DCLRE1B	64858	broad.mit.edu	37	1	114454524	114454524	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:114454524C>G	uc001eeg.3	+	3	1604	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Missense_Mutation_p.S311C	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	437					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTTAAGGTCTACAGATGAG	0.473								Other identified genes with known or suspected DNA repair function					G	114454524	C	G	114454524	3	3	105	1	0	0	0	0	1	0	0	0	4295	913	32	5	1324	5	DCLRE1B	1	114454524	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	56973766	114454524	134796097	6	7041											
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:158151257delT	uc001frr.3	+	2	573	c.74delT	c.(73-75)cttfs	p.L25fs	CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.3_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592													-	158151257	T	-	158151257	7	5	105	1	0	1	0	1	0	0	0	0	2977	1609	56	0	80	0	CD1D	1	158151257	Frame_Shift_Del	DEL	T	TCGA-06-6697-01A-11D-1845-08	43696733	158151257	91099364	7	7042											
CRB1	23418	broad.mit.edu	37	1	197313558	197313558	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:197313558C>A	uc001gtz.3	+	2	1009	c.800C>A	c.(799-801)gCc>gAc	p.A267D	CRB1_uc010poz.2_Missense_Mutation_p.A198D|CRB1_uc001gty.2_Missense_Mutation_p.A267D|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.A267D|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	267	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.C266C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GATGAGTGTGCCAGTCAACCT	0.512													A	197313558	C	A	197313558	3	1	105	1	0	0	0	0	1	0	0	0	3848	739	26	5	810	5	CRB1	1	197313558	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	39162301	197313558	51937063	8	7043											
IGFN1	91156	broad.mit.edu	37	1	201190709	201190709	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:201190709C>T	uc001gwc.3	+	18	10166	c.10036C>T	c.(10036-10038)Ctc>Ttc	p.L3346F	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCAGACAGTCTCCAGTGGCT	0.632													T	201190709	C	T	201190709	3	4	105	1	0	0	0	0	1	0	0	0	7590	913	32	3	10106	3	IGFN1	1	201190709	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	3877151	201190709	48059912	9	7044											
TLR5	7100	broad.mit.edu	37	1	223285038	223285038	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:223285038G>A	uc021pjl.1	-	0	1336	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TLR5_uc001hnv.2_Missense_Mutation_p.R446W|TLR5_uc001hnw.2_Missense_Mutation_p.R446W	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	446			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGAGGTACCCGTAGGAGAAAG	0.403													A	223285038	G	A	223285038	3	1	105	1	0	0	0	0	1	0	0	0	15951	1144	40	1	1244	1	TLR5	1	223285038	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	22094329	223285038	25965583	10	7045											
C1orf150	148823	broad.mit.edu	37	1	247712504	247712504	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:247712504A>T	uc001idf.3	+	0	158	c.11A>T	c.(10-12)tAt>tTt	p.Y4F	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	4								p.N3K(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15	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;0.0241)			ATGGGAAATTATCTCCTGCGA	0.473													T	247712504	A	T	247712504	3	4	105	1	0	0	0	0	1	0	0	0	2004	449	16	5	13	5	C1orf150	1	247712504	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	24427466	247712504	1538117	11	7046											
EPAS1	2034	broad.mit.edu	37	2	46609718	46609718	+	Silent	SNP	G	G	A	rs4953362	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:46609718G>A	uc002ruv.3	+	14	2952	c.2442G>A	c.(2440-2442)tcG>tcA	p.S814S	EPAS1_uc002ruw.3_Silent_p.S280S	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	814					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGCCTGTCGTCAGCCCACA	0.607													A	46609718	G	A	46609718	2	1	105	1	0	0	0	0	0	0	0	1	5150	1132	40	1		1	EPAS1	2	46609718	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08		46609718	196589655	12	7047											
DARS	1615	broad.mit.edu	37	2	136682064	136682074	+	Splice_Site	DEL	GATGTCTAGAA	GATGTCTAGAA	-			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:136682064_136682074delGATGTCTAGAA	uc002tux.1	-	8	749	c.565_splice	c.e8-1	p.T189_splice	DARS_uc010fnj.1_Splice_Site_p.T89_splice	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	189					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTGACTAGTTGATGTCTAGAAGACAGTAATA	0.374													-	136682074	GATGTCTAGAA	-	136682064	8	5	105	1	0	1	0	1	0	0	1	0	4241	1294	45	0	972	0	DARS	2	136682064	Splice_Site	DEL	GATGTCTAGAA	TCGA-06-6697-01A-11D-1845-08	90072346	136682064	106517309	13	7048											
THSD7B	80731	broad.mit.edu	37	2	138373761	138373761	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:138373761C>T	uc002tva.1	+	16	3350	c.3350C>T	c.(3349-3351)aCa>aTa	p.T1117I	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATCCCCACACAATGCAGAGA	0.418													T	138373761	C	T	138373761	3	4	105	1	0	0	0	0	1	0	0	0	15877	478	17	3	3418	3	THSD7B	2	138373761	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	1691697	138373761	104825612	14	7049											
FAP	2191	broad.mit.edu	37	2	163074520	163074520	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:163074520T>A	uc002ucd.3	-	8	946	c.738A>T	c.(736-738)agA>agT	p.R246S	FAP_uc010zct.2_Missense_Mutation_p.R221S|FAP_uc010fpe.1_Missense_Mutation_p.R213S	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	246					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.P245L(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						TATTTATTGTTCTAGGATATT	0.353													A	163074520	T	A	163074520	3	1	105	1	0	0	0	0	1	0	0	0	5673	1780	62	5	1616	5	FAP	2	163074520	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	24700759	163074520	80124853	15	7050											
DHRS9	10170	broad.mit.edu	37	2	169939876	169939876	+	Silent	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:169939876C>T	uc010zdc.2	+	2	643	c.531C>T	c.(529-531)ggC>ggT	p.G177G	DHRS9_uc002uep.3_Silent_p.G117G|DHRS9_uc002ueq.3_Silent_p.G117G|DHRS9_uc010zdd.2_Silent_p.G117G|DHRS9_uc010zde.2_Silent_p.G117G	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	117					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GTGTTCCCGGCGTGCTGGCTC	0.468													T	169939876	C	T	169939876	2	4	105	1	0	0	0	0	0	0	0	1	4498	755	27	1		1	DHRS9	2	169939876	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08	6865356	169939876	73259497	16	7051											
TTN	7273	broad.mit.edu	37	2	179599471	179599471	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:179599471G>A	uc021vsy.1	-	47	11673	c.11448C>T	c.(11446-11448)gtC>gtT	p.V3816V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V477V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4743							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V3816V(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)			TATCACTGCCGACGTCATTCA	0.363													A	179599471	G	A	179599471	2	1	105	1	0	0	0	0	0	0	0	1	16732	1045	37	2		2	TTN	2	179599471	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	9659595	179599471	63599902	17	7052											
DGKD	8527	broad.mit.edu	37	2	234363420	234363420	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:234363420C>G	uc002vui.1	+	18	2288	c.2276C>G	c.(2275-2277)aCg>aGg	p.T759R	DGKD_uc002vuj.1_Missense_Mutation_p.T715R|DGKD_uc010fyh.1_Missense_Mutation_p.T626R|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	759					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GAGTATTACACGGAGAAATGT	0.453													G	234363420	C	G	234363420	3	3	105	1	0	0	0	0	1	0	0	0	4467	536	19	5	2374	5	DGKD	2	234363420	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	54763949	234363420	8835953	18	7053											
KCNH8	131096	broad.mit.edu	37	3	19574969	19574969	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:19574969C>T	uc003cbk.1	+	15	2897	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L	KCNH8_uc010hex.1_Missense_Mutation_p.P362L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	901						integral to membrane	two-component sensor activity	p.S900T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTTCTGTCACCTCAGCAGCCA	0.493													T	19574969	C	T	19574969	3	4	105	1	0	0	0	0	1	0	0	0	8038	681	24	3	2764	3	KCNH8	3	19574969	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08		19574969	178447461	19	7054											
NBEAL2	23218	broad.mit.edu	37	3	47041686	47041686	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:47041686G>T	uc003cqp.3	+	26	4276	c.4097G>T	c.(4096-4098)gGa>gTa	p.G1366V	NBEAL2_uc010hjm.2_Splice_Site_p.G743_splice|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1366							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTAGTGTAGGATCAGGCAAC	0.637													T	47041686	G	T	47041686	3	4	105	1	0	0	0	0	1	0	0	0	10189	1174	41	5	4203	5	NBEAL2	3	47041686	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	27466717	47041686	150980744	20	7055											
CELSR3	1951	broad.mit.edu	37	3	48685382	48685382	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:48685382G>A	uc003cuf.1	-	21	7231	c.7231C>T	c.(7231-7233)Cgt>Tgt	p.R2411C	CELSR3_uc010hkg.3_Missense_Mutation_p.R324C|CELSR3_uc003cul.3_Missense_Mutation_p.R2341C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2341					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.L2411F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTAGCGACGGGCCCCCCGG	0.632													A	48685382	G	A	48685382	3	1	105	1	0	0	0	0	1	0	0	0	3223	1116	39	2	2981	2	CELSR3	3	48685382	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	1643696	48685382	149337048	21	7056											
DNAJC13	23317	broad.mit.edu	37	3	132217972	132217972	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:132217972T>A	uc003eor.3	+	36	4224	c.4159T>A	c.(4159-4161)Tta>Ata	p.L1387I		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1387							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATTTCAGATTTACAGCCTTA	0.328													A	132217972	T	A	132217972	3	1	105	1	0	0	0	0	1	0	0	0	4632	1838	64	5	4301	5	DNAJC13	3	132217972	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	83532590	132217972	65804458	22	7057											
NPHP3	84129	broad.mit.edu	37	3	132361623	132361623	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:132361623C>A	uc003eov.4	-	2	653	c.273G>T	c.(271-273)caG>caT	p.Q91H		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	511					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAAGGCTTTCTGGACTTTAA	0.323													A	132361623	C	A	132361623	3	1	105	1	0	0	0	0	1	0	0	0	10580	912	32	5		5	NPHP3	3	132361623	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	143651	132361623	65660807	23	7058											
ATP11B	23200	broad.mit.edu	37	3	182559871	182559871	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:182559871G>T	uc003flb.3	+	7	922	c.665G>T	c.(664-666)gGa>gTa	p.G222V		NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	222					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATTCATGGGACGAATGATC	0.299													T	182559871	G	T	182559871	3	4	105	1	0	0	0	0	1	0	0	0	1120	1174	41	5	695	5	ATP11B	3	182559871	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	50198248	182559871	15462559	24	7059											
DNAH5	1767	broad.mit.edu	37	5	13717485	13717485	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:13717485G>A	uc003jfd.2	-	72	12686	c.12644C>T	c.(12643-12645)gCg>gTg	p.A4215V	DNAH5_uc003jfc.2_Missense_Mutation_p.A383V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4215	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					ATTAAAGTCCGCTTGGTTAAA	0.532									Kartagener syndrome				A	13717485	G	A	13717485	3	1	105	1	0	0	0	0	1	0	0	0	4604	1087	38	1	1258	1	DNAH5	5	13717485	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		13717485	167197775	25	7060											
C5orf42	65250	broad.mit.edu	37	5	37183582	37183582	+	Silent	SNP	A	A	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:37183582A>C	uc011cpa.1	-	25	4932	c.4701T>G	c.(4699-4701)ccT>ccG	p.P1567P	C5orf42_uc011coy.1_Silent_p.P68P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P642P|C5orf42_uc011cpb.1_Silent_p.P448P	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1567										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCCTGGAATAAGGTAGGTCTC	0.323													C	37183582	A	C	37183582	2	2	105	1	0	0	0	0	0	0	0	1	2301	59	3	5		5	C5orf42	5	37183582	Silent	SNP	A	TCGA-06-6697-01A-11D-1845-08	23466097	37183582	143731678	26	7061											
IRF1	3659	broad.mit.edu	37	5	131821402	131821402	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:131821402G>A	uc003kxa.2	-	7	908	c.674C>T	c.(673-675)aCa>aTa	p.T225I	C5orf56_uc010jds.2_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.T225I|IRF1_uc010jdt.2_Missense_Mutation_p.T225I	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	225					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ATCCTCATCTGTTGTAGCTGT	0.542													A	131821402	G	A	131821402	3	1	105	1	0	0	0	0	1	0	0	0	7827	1377	48	3	315	3	IRF1	5	131821402	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	94637820	131821402	49093858	27	7062											
DSP	1832	broad.mit.edu	37	6	7576571	7576571	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:7576571G>A	uc003mxp.1	+	18	2954	c.2675G>A	c.(2674-2676)cGt>cAt	p.R892H	DSP_uc003mxq.1_Missense_Mutation_p.R892H|DSP_uc021yle.1_Missense_Mutation_p.R892H	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	892	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGAATTATCGTGATAACTAT	0.388													A	7576571	G	A	7576571	3	1	105	1	0	0	0	0	1	0	0	0	4781	1145	40	1	2749	1	DSP	6	7576571	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		7576571	163538496	28	7063											
OR10C1	442194	broad.mit.edu	37	6	29408603	29408603	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:29408603C>A	uc011dlp.2	+	0	888	c.811C>A	c.(811-813)Cct>Act	p.P271T	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCACTGACCCTCTGGTGTC	0.552													A	29408603	C	A	29408603	3	1	105	1	0	0	0	0	1	0	0	0	10898	623	22	5	813	5	OR10C1	6	29408603	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	21832032	29408603	141706464	29	7064											
ZNF318	24149	broad.mit.edu	37	6	43308071	43308072	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:43308071_43308072delTC	uc003oux.3	-	9	3742_3743	c.3664_3665delGA	c.(3664-3666)gaafs	p.E1222fs	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1222	Lys-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCCTTTACTTCTTTCACAGCC	0.45													-	43308072	TC	-	43308071	7	5	105	1	0	1	0	1	0	0	0	0	17833	1783	62	0	3178	0	ZNF318	6	43308071	Frame_Shift_Del	DEL	TC	TCGA-06-6697-01A-11D-1845-08	13899468	43308071	127806996	30	7065											
FILIP1	27145	broad.mit.edu	37	6	76023523	76023523	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:76023523G>C	uc010kbe.3	-	5	2564	c.2034C>G	c.(2032-2034)aaC>aaG	p.N678K	FILIP1_uc003phy.1_Missense_Mutation_p.N675K|FILIP1_uc003phz.3_Missense_Mutation_p.N576K|FILIP1_uc003pia.3_Missense_Mutation_p.N675K|FILIP1_uc003pib.1_Missense_Mutation_p.N427K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	675								p.S678S(1)		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						GAGAGAGGAAGTTAGCCTTAT	0.438													C	76023523	G	C	76023523	3	2	105	1	0	0	0	0	1	0	0	0	5894	1020	36	5	1624	5	FILIP1	6	76023523	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	32715452	76023523	95091544	31	7066											
SDK1	221935	broad.mit.edu	37	7	4050626	4050626	+	Silent	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:4050626C>T	uc003smx.3	+	14	2299	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N	SDK1_uc010kso.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	720	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCTGTCAAACGTTGGCCCTG	0.512													T	4050626	C	T	4050626	2	4	105	1	0	0	0	0	0	0	0	1	13968	535	19	1		1	SDK1	7	4050626	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08		4050626	155088037	32	7067											
PCLO	27445	broad.mit.edu	37	7	82579889	82579889	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:82579889C>A	uc003uhx.2	-	5	10304	c.10015G>T	c.(10015-10017)Ggt>Tgt	p.G3339C	PCLO_uc003uhv.2_Missense_Mutation_p.G3339C|PCLO_uc010lec.3_Missense_Mutation_p.G304C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3270					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						GCATACTGACCTTCCAAAATT	0.478													A	82579889	C	A	82579889	3	1	105	1	0	0	0	0	1	0	0	0	11583	681	24	5	5510	5	PCLO	7	82579889	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	78529263	82579889	76558774	33	7068											
PCLO	27445	broad.mit.edu	37	7	82784328	82784328	+	Silent	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:82784328C>T	uc003uhx.2	-	1	1918	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	PCLO_uc003uhv.2_Silent_p.Q543Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	489	Pro-rich.				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						CTGGGCTAGGCTGTTGAGCTG	0.547													T	82784328	C	T	82784328	2	4	105	1	0	0	0	0	0	0	0	1	11583	796	28	3		3	PCLO	7	82784328	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08	204439	82784328	76354335	34	7069											
ABCB4	5244	broad.mit.edu	37	7	87049323	87049323	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:87049323C>T	uc003uiv.1	-	18	2461	c.2385G>A	c.(2383-2385)atG>atA	p.M795I	ABCB4_uc003uiw.1_Missense_Mutation_p.M795I|ABCB4_uc003uix.1_Missense_Mutation_p.M795I	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	795	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCTGTCTTAGCATTGCTTTAA	0.428													T	87049323	C	T	87049323	3	4	105	1	0	0	0	0	1	0	0	0	43	710	25	3	1515	3	ABCB4	7	87049323	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	4264995	87049323	72089340	35	7070											
PIK3CG	5294	broad.mit.edu	37	7	106523501	106523501	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:106523501G>A	uc003vdv.4	+	7	2738	c.2653G>A	c.(2653-2655)Gcc>Acc	p.A885T	PIK3CG_uc003vdu.3_Missense_Mutation_p.A885T|PIK3CG_uc003vdw.3_Missense_Mutation_p.A885T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	885	PI3K/PI4K.				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			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						TGTGAAAGACGCCACGACAAT	0.478													A	106523501	G	A	106523501	3	1	105	1	0	0	0	0	1	0	0	0	11916	1087	38	1	2679	1	PIK3CG	7	106523501	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	19474178	106523501	52615162	36	7071											
ZNF282	8427	broad.mit.edu	37	7	148909483	148909483	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:148909483G>A	uc003wfm.3	+	5	1091	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	ZNF282_uc011kun.1_Missense_Mutation_p.R329Q|ZNF282_uc003wfn.3_Missense_Mutation_p.R269Q|ZNF282_uc003wfo.3_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	329					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCTTGTCCCGGATTAAACAG	0.498													A	148909483	G	A	148909483	3	1	105	1	0	0	0	0	1	0	0	0	17816	1116	39	2	1008	2	ZNF282	7	148909483	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	42385982	148909483	10229180	37	7072											
NCOA2	10499	broad.mit.edu	37	8	71057069	71057069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr8:71057069G>A	uc003xyn.1	-	12	2782	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	874					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGCCCTGGTCGTGGGTTATTA	0.388			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								A	71057069	G	A	71057069	4	1	105	1	0	0	0	0	0	1	0	0	10229	1153	40	1	1818	1	NCOA2	8	71057069	Nonsense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		71057069	75306953	38	7073											
PHF20L1	51105	broad.mit.edu	37	8	133806658	133806658	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr8:133806658A>G	uc003ytt.3	+	2	411	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	PHF20L1_uc003ytr.3_Missense_Mutation_p.Y29C|PHF20L1_uc010mdv.3_Missense_Mutation_p.Y29C|PHF20L1_uc003yts.3_Missense_Mutation_p.Y29C|PHF20L1_uc011lja.2_Missense_Mutation_p.Y29C|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	29	Tudor 1.						nucleic acid binding|zinc ion binding			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)			TTTTTGAGGTATCCATCACGA	0.338													G	133806658	A	G	133806658	3	3	105	1	0	0	0	0	1	0	0	0	11832	449	16	4	92	4	PHF20L1	8	133806658	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	62749589	133806658	12557364	39	7074											
SECISBP2	79048	broad.mit.edu	37	9	91973081	91973081	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr9:91973081G>A	uc004aqj.1	+	15	2516	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	SECISBP2_uc010mqo.1_Silent_p.L517L|SECISBP2_uc004aqk.1_Silent_p.L739L|SECISBP2_uc011ltk.1_Silent_p.L811L|SECISBP2_uc011ltl.1_Silent_p.L744L	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	812					translation	nucleus	mRNA 3'-UTR binding			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						CCCCAGCCCTGAAAGAAAAAG	0.562													A	91973081	G	A	91973081	2	1	105	1	0	0	0	0	0	0	0	1	14006	1277	45	3		3	SECISBP2	9	91973081	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08		91973081	49240350	40	7075											
LAMC3	10319	broad.mit.edu	37	9	133927934	133927934	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr9:133927934C>T	uc004caa.1	+	9	1785	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	563	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity	p.F562S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACTGACCTTCCGGGTGCCCCC	0.597											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	133927934	C	T	133927934	3	4	105	1	0	0	0	0	1	0	0	0	8616	643	23	2	1725	2	LAMC3	9	133927934	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	41954853	133927934	7285497	41	7076											
CDH23	64072	broad.mit.edu	37	10	73567464	73567464	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr10:73567464G>A	uc001jrx.4	+	56	8881	c.8491G>A	c.(8491-8493)Gtt>Att	p.V2831I	CDH23_uc001jsg.4_Missense_Mutation_p.V594I|CDH23_uc001jsh.4_Missense_Mutation_p.V594I|CDH23_uc001jsi.4_Missense_Mutation_p.V594I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2834	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAGGTGCGCGTTGTGCTAGA	0.632													A	73567464	G	A	73567464	3	1	105	1	0	0	0	0	1	0	0	0	3108	1145	40	1	9075	1	CDH23	10	73567464	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		73567464	61967283	42	7077											
MYOF	26509	broad.mit.edu	37	10	95119651	95119651	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr10:95119651C>T	uc001kin.3	-	28	3182	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q	MYOF_uc001kio.3_Missense_Mutation_p.R1007Q|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1020					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGCCTTCGCCGTCTATGAGT	0.502													T	95119651	C	T	95119651	3	4	105	1	0	0	0	0	1	0	0	0	10089	652	23	2	3230	2	MYOF	10	95119651	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	21552187	95119651	40415096	43	7078											
OR51V1	283111	broad.mit.edu	37	11	5221570	5221570	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:5221570A>T	uc010qyz.2	-	0	361	c.361T>A	c.(361-363)Tcc>Acc	p.S121T		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		AGGACAGAGGACTCCATGAAG	0.473													T	5221570	A	T	5221570	3	4	105	1	0	0	0	0	1	0	0	0	11107	275	10	5	607	5	OR51V1	11	5221570	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08		5221570	129784946	44	7079											
OR10A3	26496	broad.mit.edu	37	11	7960995	7960995	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:7960995C>T	uc010rbi.2	-	0	73	c.73G>A	c.(73-75)Gtg>Atg	p.V25M		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGCACCTGGAGCTCA	0.413													T	7960995	C	T	7960995	3	4	105	1	0	0	0	0	1	0	0	0	10891	507	18	3	874	3	OR10A3	11	7960995	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	2739425	7960995	127045521	45	7080											
INSC	387755	broad.mit.edu	37	11	15198673	15198673	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:15198673T>C	uc001mlz.3	+	3	530	c.419T>C	c.(418-420)aTg>aCg	p.M140T	INSC_uc001mly.3_Missense_Mutation_p.M187T|INSC_uc001mma.3_Missense_Mutation_p.M140T|INSC_uc010rcs.2_Missense_Mutation_p.M140T|INSC_uc001mmb.3_Missense_Mutation_p.M140T|INSC_uc001mmc.3_Missense_Mutation_p.M140T	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	187					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AAGCTGCTAATGGAGAAATGC	0.493													C	15198673	T	C	15198673	3	2	105	1	0	0	0	0	1	0	0	0	7764	1464	51	4	574	4	INSC	11	15198673	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	7237678	15198673	119807843	46	7081											
OR1S1	219959	broad.mit.edu	37	11	57982888	57982888	+	Silent	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:57982888T>C	uc010rkc.2	+	0	672	c.672T>C	c.(670-672)ttT>ttC	p.F224F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTTCCCCTTTACACTCAGCT	0.453													C	57982888	T	C	57982888	2	2	105	1	0	0	0	0	0	0	0	1	10972	1751	61	4		4	OR1S1	11	57982888	Silent	SNP	T	TCGA-06-6697-01A-11D-1845-08	42784215	57982888	77023628	47	7082											
MMP27	64066	broad.mit.edu	37	11	102575419	102575419	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:102575419G>A	uc001phd.1	-	1	213	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	64					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R64W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TGCATTTCCCGAATTTTGTCA	0.428													A	102575419	G	A	102575419	3	1	105	1	0	0	0	0	1	0	0	0	9664	1057	37	2	1387	2	MMP27	11	102575419	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	44592531	102575419	32431097	48	7083											
KDELC2	143888	broad.mit.edu	37	11	108345675	108345675	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:108345675T>A	uc001pkj.2	-	7	1469	c.1403A>T	c.(1402-1404)tAt>tTt	p.Y468F	KDELC2_uc001pki.2_Missense_Mutation_p.Y412F	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	468						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GCGCTCGGCATATTTCTGAAA	0.507													A	108345675	T	A	108345675	3	1	105	1	0	0	0	0	1	0	0	0	8118	1406	49	5	124	5	KDELC2	11	108345675	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	5770256	108345675	26660841	49	7084											
CLEC7A	64581	broad.mit.edu	37	12	10277922	10277922	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:10277922G>C	uc001qxg.2	-	3	653	c.466C>G	c.(466-468)Cta>Gta	p.L156V	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxh.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxi.2_Missense_Mutation_p.L156V|CLEC7A_uc001qxj.2_Missense_Mutation_p.L77V|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc021quz.1_Missense_Mutation_p.L110V|CLEC7A_uc021qva.1_Missense_Mutation_p.L110V	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.	156	C-type lectin.				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TCTATCTTTAGGAGATTAGAG	0.383													C	10277922	G	C	10277922	3	2	105	1	0	0	0	0	1	0	0	0	3521	991	35	5	289	5	CLEC7A	12	10277922	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		10277922	123573973	50	7085											
KLRC2	3823	broad.mit.edu	37	12	10587963	10587963	+	Silent	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:10587963G>T	uc001qyh.3	-	1	241	c.234C>A	c.(232-234)atC>atA	p.I78I	KLRC2_uc010she.1_Silent_p.I78I|KLRC2_uc001qyk.2_Silent_p.I78I	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	78					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CAATGCAAATGATTCCTAGGA	0.428													T	10587963	G	T	10587963	2	4	105	1	0	0	0	0	0	0	0	1	8416	1280	45	5		5	KLRC2	12	10587963	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	310041	10587963	123263932	51	7086											
HDAC7	51564	broad.mit.edu	37	12	48181754	48181754	+	Translation_Start_Site	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:48181754G>A	uc010slo.2	-						HDAC7_uc001rqe.3_Intron|HDAC7_uc001rqj.4_Intron|HDAC7_uc001rqk.4_Intron|HDAC7_uc010slp.2_5'UTR	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.						negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|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 kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		cacacagctcgtcatgacaga	0.572													A	48181754	G	A	48181754	1	1	105	1	0	0	0	0	0	0	0	0	7012	1160	40	1		1	HDAC7	12	48181754	Translation_Start_Site	SNP	G	TCGA-06-6697-01A-11D-1845-08	37593791	48181754	85670141	52	7087											
METTL1	4234	broad.mit.edu	37	12	58162873	58162873	+	Missense_Mutation	SNP	C	C	T	rs140194153	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:58162873C>T	uc010ssd.2	-	5	785	c.737G>A	c.(736-738)cGt>cAt	p.R246H	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_3'UTR	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.	246						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			CCCTCCATTACGTAGAACTTT	0.532													T	58162873	C	T	58162873	3	4	105	1	0	0	0	0	1	0	0	0	9493	536	19	1	97	1	METTL1	12	58162873	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	9981119	58162873	75689022	53	7088											
LRRIQ1	84125	broad.mit.edu	37	12	85459186	85459186	+	Silent	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:85459186T>C	uc001tac.3	+	8	2649	c.2538T>C	c.(2536-2538)gaT>gaC	p.D846D	LRRIQ1_uc021rbo.1_Silent_p.D724D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	846								p.D846N(1)		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)		AGTACATTGATGCACAGGTAT	0.333													C	85459186	T	C	85459186	2	2	105	1	0	0	0	0	0	0	0	1	9029	1461	51	4		4	LRRIQ1	12	85459186	Silent	SNP	T	TCGA-06-6697-01A-11D-1845-08	27296313	85459186	48392709	54	7089											
KIAA1033	23325	broad.mit.edu	37	12	105519878	105519878	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:105519878A>G	uc010swr.2	+	10	970	c.883A>G	c.(883-885)Att>Gtt	p.I295V	KIAA1033_uc001tld.3_Missense_Mutation_p.I295V|KIAA1033_uc010sws.2_Missense_Mutation_p.I107V	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	295					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TATTCGGTCAATTTTTGCAAA	0.308													G	105519878	A	G	105519878	3	3	105	1	0	0	0	0	1	0	0	0	8206	101	4	4	925	4	KIAA1033	12	105519878	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	20060692	105519878	28332017	55	7090											
DYNC1H1	1778	broad.mit.edu	37	14	102514280	102514280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr14:102514280G>A	uc001yks.2	+	72	13297	c.13133G>A	c.(13132-13134)cGg>cAg	p.R4378Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4378					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTGGATGCGGACACTGCAC	0.612													A	102514280	G	A	102514280	3	1	105	1	0	0	0	0	1	0	0	0	4841	1116	39	2	13423	2	DYNC1H1	14	102514280	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		102514280	4835260	56	7091											
NRG4	145957	broad.mit.edu	37	15	76301577	76301577	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr15:76301577C>A	uc002bbo.3	-	2	250	c.68G>T	c.(67-69)tGt>tTt	p.C23F	NRG4_uc010bkm.1_Non-coding_Transcript|NRG4_uc002bbp.2_Non-coding_Transcript	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	Homo sapiens neuregulin 4 (NRG4), mRNA.	23	EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						TATCACATAACAAAGCCCCCC	0.388													A	76301577	C	A	76301577	3	1	105	1	0	0	0	0	1	0	0	0	10650	478	17	5	295	5	NRG4	15	76301577	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08		76301577	26229815	57	7092											
SRRM2	23524	broad.mit.edu	37	16	2812703	2812703	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:2812703G>A	uc002crk.3	+	10	2723	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D	SRRM2_uc002crj.1_Missense_Mutation_p.G629D|SRRM2_uc002crl.1_Missense_Mutation_p.G725D|SRRM2_uc010bsu.1_Missense_Mutation_p.G629D	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	725	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.S724fs*27(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGCAGATCTGGCTCATCTTCA	0.463													A	2812703	G	A	2812703	3	1	105	1	0	0	0	0	1	0	0	0	15168	1203	42	3	2212	3	SRRM2	16	2812703	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		2812703	87542050	58	7093											
CHD9	80205	broad.mit.edu	37	16	53276816	53276816	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:53276816G>T	uc002ehb.3	+	11	3106	c.2942G>T	c.(2941-2943)gGa>gTa	p.G981V	CHD9_uc002egy.3_Missense_Mutation_p.G981V|CHD9_uc002ehc.3_Missense_Mutation_p.G981V|CHD9_uc002ehf.3_Missense_Mutation_p.G95V|CHD9_uc002ehg.2_Missense_Mutation_p.G95V|CHD9_uc002ehd.2_Missense_Mutation_p.G507V|CHD9_uc002ehe.1_Missense_Mutation_p.G95V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	981	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGATTCTTGGAGGCTGTGGA	0.363													T	53276816	G	T	53276816	3	4	105	1	0	0	0	0	1	0	0	0	3332	1174	41	5	2988	5	CHD9	16	53276816	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	50464113	53276816	37077937	59	7094											
CDYL2	124359	broad.mit.edu	37	16	80718602	80718602	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:80718602T>C	uc002ffs.3	-	1	554	c.449A>G	c.(448-450)aAa>aGa	p.K150R		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	150						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTGAGACTTTTTCAGGGGCAT	0.512													C	80718602	T	C	80718602	3	2	105	1	0	0	0	0	1	0	0	0	3186	1841	64	4	1095	4	CDYL2	16	80718602	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	27441786	80718602	9636151	60	7095											
MAP2K3	5606	broad.mit.edu	37	17	21205510	21205510	+	Missense_Mutation	SNP	G	G	A	rs148304866		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:21205510G>A	uc002gys.3	+	5	720	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	MAP2K3_uc002gyt.3_Missense_Mutation_p.R123Q|MAP2K3_uc021tsq.1_Missense_Mutation_p.R123Q|MAP2K3_uc021tsr.1_Missense_Mutation_p.R123Q	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	152	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAGTTCTACCGGAAGGTGCTG	0.592													A	21205510	G	A	21205510	3	1	105	1	0	0	0	0	1	0	0	0	9238	1116	39	2	477	2	MAP2K3	17	21205510	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		21205510	59989700	61	7096											
NOS2	4843	broad.mit.edu	37	17	26094858	26094858	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:26094858G>A	uc002gzu.3	-	17	2304	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A	NOS2_uc010wab.1_Silent_p.A645A	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	680					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.A679S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACGTCTCACAGGCTGCCTGGA	0.572													A	26094858	G	A	26094858	2	1	105	1	0	0	0	0	0	0	0	1	10543	987	35	3		3	NOS2	17	26094858	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	4889348	26094858	55100352	62	7097											
EVI2B	2124	broad.mit.edu	37	17	29632208	29632208	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:29632208C>A	uc010csq.2	-	2	648	c.465G>T	c.(463-465)aaG>aaT	p.K155N	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140N|EVI2B_uc021tuk.1_Missense_Mutation_p.K140N	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	140						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AGACAAATGACTTTGGTGGTT	0.438													A	29632208	C	A	29632208	3	1	105	1	0	0	0	0	1	0	0	0	5288	564	20	5	930	5	EVI2B	17	29632208	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	3537350	29632208	51563002	63	7098	9	2									
EVI2B	2124	broad.mit.edu	37	17	29632210	29632210	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:29632210T>G	uc010csq.2	-	2	646	c.463A>C	c.(463-465)Aag>Cag	p.K155Q	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140Q|EVI2B_uc021tuk.1_Missense_Mutation_p.K140Q	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	140						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		ACAAATGACTTTGGTGGTTGT	0.438													G	29632210	T	G	29632210	3	3	105	1	0	0	0	0	1	0	0	0	5288	1850	64	5	932	5	EVI2B	17	29632210	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	2	29632210	51563000	64	7099	9	2									
PEX12	5193	broad.mit.edu	37	17	33904178	33904178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:33904178G>A	uc002hjp.3	-	1	1175	c.559C>T	c.(559-561)Cag>Tag	p.Q187*		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	187					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.Q187Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTGATGCTGAGCTTTTCCT	0.493													A	33904178	G	A	33904178	4	1	105	1	0	0	0	0	0	1	0	0	11740	1299	45	3	528	3	PEX12	17	33904178	Nonsense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	4271968	33904178	47291032	65	7100											
TEX14	56155	broad.mit.edu	37	17	56699012	56699012	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:56699012C>A	uc010dcz.2	-	5	672	c.554_splice	c.e5+1	p.G185_splice	TEX14_uc002iwr.2_Splice_Site_p.G185_splice|TEX14_uc002iws.2_Splice_Site_p.G185_splice|TEX14_uc010dda.2_Splice_Site	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	185						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTACTCACCCCTGCACGAGG	0.612													A	56699012	C	A	56699012	4	1	105	1	0	0	0	0	0	1	0	0	15775	637	22	5	4038	5	TEX14	17	56699012	Nonsense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	22794834	56699012	24496198	66	7101											
TIMM44	10469	broad.mit.edu	37	19	7998999	7998999	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:7998999G>T	uc002miz.3	-	4	690	c.518C>A	c.(517-519)aCa>aAa	p.T173K	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	173					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GAAGGCCGCTGTCCTGCCCAG	0.677													T	7998999	G	T	7998999	3	4	105	1	0	0	0	0	1	0	0	0	15909	1377	48	5	876	5	TIMM44	19	7998999	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		7998999	51129984	67	7102											
SLC44A2	57153	broad.mit.edu	37	19	10748353	10748353	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:10748353C>T	uc002mpf.3	+	16	1764	c.1625C>T	c.(1624-1626)aCc>aTc	p.T542I	SLC44A2_uc002mpe.4_Missense_Mutation_p.T540I|SLC44A2_uc002mpg.1_Missense_Mutation_p.T262I|SLC44A2_uc002mph.3_Missense_Mutation_p.T91I|SLC44A2_uc002mpi.3_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	542					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)	TGCCTCATGACCTGTCTCAAA	0.527													T	10748353	C	T	10748353	3	4	105	1	0	0	0	0	1	0	0	0	14636	507	18	3	1726	3	SLC44A2	19	10748353	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	2749354	10748353	48380630	68	7103											
ZNF709	163051	broad.mit.edu	37	19	12575471	12575471	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:12575471C>T	uc002mtv.4	-	3	1426	c.1265G>A	c.(1264-1266)tGt>tAt	p.C422Y	ZNF709_uc002mtw.4_Missense_Mutation_p.C390Y|ZNF709_uc002mtx.4_Missense_Mutation_p.C422Y	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACATTGTTTACATTCATGGGG	0.408													T	12575471	C	T	12575471	3	4	105	1	0	0	0	0	1	0	0	0	18110	478	17	3	664	3	ZNF709	19	12575471	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	1827118	12575471	46553512	69	7104											
ZNF570	148268	broad.mit.edu	37	19	37975633	37975633	+	Missense_Mutation	SNP	G	G	A	rs146360083		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:37975633G>A	uc010efl.1	+	5	1396	c.1277G>A	c.(1276-1278)cGt>cAt	p.R426H	ZNF570_uc002ogk.1_Missense_Mutation_p.R370H|ZNF570_uc010xtr.1_Missense_Mutation_p.R167H	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAGCCTTCGTGCATACCTT	0.423													A	37975633	G	A	37975633	3	1	105	1	0	0	0	0	1	0	0	0	17999	1145	40	1	1123	1	ZNF570	19	37975633	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	25400162	37975633	21153350	70	7105											
ARHGAP35	2909	broad.mit.edu	37	19	47422855	47422855	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:47422855A>G	uc010ekv.3	+	0	923	c.923A>G	c.(922-924)tAt>tGt	p.Y308C		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	308	FF 1.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TACCAGGACTATGTCTACCTG	0.502													G	47422855	A	G	47422855	3	3	105	1	0	0	0	0	1	0	0	0	6795	449	16	4	925	4	ARHGAP35	19	47422855	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	9447222	47422855	11706128	71	7106											
LILRA5	353514	broad.mit.edu	37	19	54823844	54823844	+	Silent	SNP	G	G	A	rs143927346	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:54823844G>A	uc002qfe.3	-	1	171	c.51C>T	c.(49-51)gaC>gaT	p.D17D	LILRA5_uc002qff.3_Silent_p.D17D|LILRA5_uc010yev.2_Silent_p.D17D|LILRA5_uc010yew.2_Silent_p.D17D|LILRA5_uc002qfg.1_Silent_p.D17D|LILRA5_uc002qfh.1_Silent_p.D17D	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	17					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCTCACGGCGTCTCCTCCCA	0.632													A	54823844	G	A	54823844	2	1	105	1	0	0	0	0	0	0	0	1	8788	1136	40	1		1	LILRA5	19	54823844	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	7400989	54823844	4305139	72	7107											
PCSK2	5126	broad.mit.edu	37	20	17446060	17446060	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr20:17446060G>A	uc002wpm.3	+	10	1646	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PCSK2_uc002wpl.3_Missense_Mutation_p.R412H|PCSK2_uc010zrm.2_Missense_Mutation_p.R396H|PCSK2_uc002wpn.3_Missense_Mutation_p.R85H	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	431					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.R431C(1)|p.R430Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGTGGCGGCGCAATGGGGTC	0.567													A	17446060	G	A	17446060	3	1	105	1	0	0	0	0	1	0	0	0	11601	1087	38	1	1334	1	PCSK2	20	17446060	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		17446060	45579460	73	7108											
SYCP2	10388	broad.mit.edu	37	20	58444912	58444912	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr20:58444912G>A	uc002yaz.3	-	34	3821	c.3682C>T	c.(3682-3684)Cgg>Tgg	p.R1228W		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1228					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCCATAAACCGTTCTTCTGAA	0.294													A	58444912	G	A	58444912	3	1	105	1	0	0	0	0	1	0	0	0	15429	1144	40	1	950	1	SYCP2	20	58444912	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	40998852	58444912	4580608	74	7109											
KRTAP10-7	386675	broad.mit.edu	37	21	46021295	46021295	+	Silent	SNP	A	A	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr21:46021295A>C	uc002zfn.4	+	1	784	c.759A>C	c.(757-759)ccA>ccC	p.P253P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	258	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTGCCAGCCAGCTTGCTGCA	0.632													C	46021295	A	C	46021295	2	2	105	1	0	0	0	0	0	0	0	1	8514	175	7	5		5	KRTAP10-7	21	46021295	Silent	SNP	A	TCGA-06-6697-01A-11D-1845-08		46021295	2108600	75	7110											
LZTR1	8216	broad.mit.edu	37	22	21342314	21342314	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:21342314A>C	uc002zto.3	+	4	519	c.416A>C	c.(415-417)gAc>gCc	p.D139A	LZTR1_uc002ztn.3_Missense_Mutation_p.D98A|LZTR1_uc011ahy.2_Missense_Mutation_p.D120A|LZTR1_uc010gsr.1_Missense_Mutation_p.D10A	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	139					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACACTGGGGACATTTATTCC	0.453													C	21342314	A	C	21342314	3	2	105	1	0	0	0	0	1	0	0	0	9137	275	10	5	434	5	LZTR1	22	21342314	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08		21342314	29962252	76	7111											
MYO18B	84700	broad.mit.edu	37	22	26348345	26348345	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:26348345G>C	uc003abz.1	+	37	6176	c.5926G>C	c.(5926-5928)Gag>Cag	p.E1976Q	MYO18B_uc003aca.1_Missense_Mutation_p.E1857Q|MYO18B_uc010guy.1_Missense_Mutation_p.E1858Q|MYO18B_uc010guz.1_Missense_Mutation_p.E1856Q|MYO18B_uc011aka.1_Missense_Mutation_p.E1130Q|MYO18B_uc011akb.1_Missense_Mutation_p.E1489Q|MYO18B_uc010gva.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1976	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGTGACCTAGAGAACAAGAC	0.517													C	26348345	G	C	26348345	3	2	105	1	0	0	0	0	1	0	0	0	10066	943	33	5	6072	5	MYO18B	22	26348345	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	5006031	26348345	24956221	77	7112											
SMC1B	27127	broad.mit.edu	37	22	45750854	45750854	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:45750854G>C	uc003bgc.3	-	19	3155	c.3103C>G	c.(3103-3105)Caa>Gaa	p.Q1035E	SMC1B_uc003bgd.3_Missense_Mutation_p.Q1035E	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	1035					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTGGACTCTTGAAACTTGTCT	0.408													C	45750854	G	C	45750854	3	2	105	1	0	0	0	0	1	0	0	0	14782	1299	45	5	628	5	SMC1B	22	45750854	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	19402509	45750854	5553712	78	7113											
DCAF12L2	340578	broad.mit.edu	37	X	125299442	125299442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chrX:125299442C>T	uc004euk.2	-	0	639	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	156								p.E156K(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGATTCAGCTCGATGGCATGG	0.682													T	125299442	C	T	125299442	3	4	105	1	0	0	0	0	1	0	0	0	4265	893	31	2	929	2	DCAF12L2	23	125299442	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08		125299442	29971118	79	7114											
PCDH11Y	83259	broad.mit.edu	37	Y	5605925	5605925	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chrY:5605925G>A	uc004fqo.3	+	4	4699	c.3965G>A	c.(3964-3966)cGc>cAc	p.R1322H	PCDH11Y_uc022ciy.1_Non-coding_Transcript	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1322					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCGCTCCACGCCAACAGGCC	0.408													A	5605925	G	A	5605925	3	1	105	1	0	0	0	0	1	0	0	0	11509	1087	38	1	4041	1	PCDH11Y	24	5605925	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		5605925	53767641	80	7115											
ATAD3C	219293	broad.mit.edu	37	1	1392509	1392509	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:1392509C>T	uc001aft.2	+	8	1685	c.690_splice	c.e8-1	p.G230_splice		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	230							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGTCCACAGCCTCCTGCTCT	0.642													T	1392509	C	T	1392509	2	4	106	1	0	0	0	0	0	0	0	1	1075	753	26	3		3	ATAD3C	1	1392509	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		1392509	247858112	1	7116											
HP1BP3	50809	broad.mit.edu	37	1	21106349	21106349	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:21106349G>A	uc001bdy.1	-	1	252	c.152C>T	c.(151-153)aCt>aTt	p.T51I	HP1BP3_uc001bdv.1_Missense_Mutation_p.T13I|HP1BP3_uc001bdw.1_Missense_Mutation_p.T51I|HP1BP3_uc010odh.1_Missense_Mutation_p.T13I|HP1BP3_uc001bea.2_Missense_Mutation_p.T50I|HP1BP3_uc001beb.3_Missense_Mutation_p.T51I	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	51					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TTTGGGAGGAGTTTCCCGGGT	0.403													A	21106349	G	A	21106349	3	1	106	1	0	0	0	0	1	0	0	0	7328	1029	36	3	1553	3	HP1BP3	1	21106349	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	19713840	21106349	228144272	2	7117											
PEX11B	8799	broad.mit.edu	37	1	145517332	145517332	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:145517332C>T	uc001eny.2	+	1	352	c.116C>T	c.(115-117)cCt>cTt	p.P39L	GNRHR2_uc009wiv.2_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.3_5'Flank|PEX11B_uc010oyu.2_Missense_Mutation_p.P25L	NM_003846	NP_003837	O96011	PX11B_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA.	39					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCCAGTCCTGAGTTACAG	0.537													T	145517332	C	T	145517332	3	4	106	1	0	0	0	0	1	0	0	0	11738	681	24	3	140	3	PEX11B	1	145517332	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	124410983	145517332	103733289	3	7118											
IQGAP3	128239	broad.mit.edu	37	1	156524129	156524129	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:156524129A>G	uc001fpf.3	-	12	1421	c.1346T>C	c.(1345-1347)cTg>cCg	p.L449P	IQGAP3_uc009wsb.1_Missense_Mutation_p.L406P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	449					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCGGTTAATCAGGACCACAGC	0.622													G	156524129	A	G	156524129	3	3	106	1	0	0	0	0	1	0	0	0	7816	188	7	4	3653	4	IQGAP3	1	156524129	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08	11006797	156524129	92726492	4	7119											
F13B	2165	broad.mit.edu	37	1	197021962	197021962	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:197021962G>A	uc001gtt.1	-	8	1401	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	453	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACAGTACATGGTTCTGTAAAA	0.259													A	197021962	G	A	197021962	3	1	106	1	0	0	0	0	1	0	0	0	5341	1261	44	3	644	3	F13B	1	197021962	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	40497833	197021962	52228659	5	7120											
SMARCAL1	50485	broad.mit.edu	37	2	217285033	217285033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr2:217285033C>T	uc002vgc.4	+	4	1204	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	SMARCAL1_uc002vgd.4_Nonsense_Mutation_p.Q292*|SMARCAL1_uc010fvg.3_Nonsense_Mutation_p.Q292*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	292	HARP 1.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GAAAGCAGCCCAGAGCCTCCC	0.557									Schimke Immuno-Osseous Dysplasia				T	217285033	C	T	217285033	4	4	106	1	0	0	0	0	0	1	0	0	14773	595	21	3	884	3	SMARCAL1	2	217285033	Nonsense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		217285033	25914340	6	7121											
PIK3CB	5291	broad.mit.edu	37	3	138374298	138374298	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr3:138374298A>C	uc011bmq.2	-	21	3146	c.3146T>G	c.(3145-3147)cTc>cGc	p.L1049R	PIK3CB_uc011bmn.2_Missense_Mutation_p.L561R|PIK3CB_uc011bmo.2_Missense_Mutation_p.L500R|PIK3CB_uc011bmp.2_Missense_Mutation_p.L636R|PIK3CB_uc003est.1_Non-coding_Transcript	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	1049	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1048V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCTTTCCCTGAGCGCCTCATC	0.418													C	138374298	A	C	138374298	3	2	106	1	0	0	0	0	1	0	0	0	11914	304	11	5	68	5	PIK3CB	3	138374298	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08		138374298	59648132	7	7122											
RBM47	54502	broad.mit.edu	37	4	40440532	40440532	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr4:40440532C>T	uc003gvc.2	-	3	1089	c.379G>A	c.(379-381)Gca>Aca	p.A127T	RBM47_uc003gvd.2_Missense_Mutation_p.A127T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A89T|RBM47_uc003gvg.1_Missense_Mutation_p.A127T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	127	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCACGCACTGCGCGCTTGGCC	0.642													T	40440532	C	T	40440532	3	4	106	1	0	0	0	0	1	0	0	0	13141	768	27	1	1418	1	RBM47	4	40440532	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		40440532	150713744	8	7123											
FYB	2533	broad.mit.edu	37	5	39202820	39202820	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:39202820C>T	uc003jls.3	-	0	310	c.243G>A	c.(241-243)ccG>ccA	p.P81P	FYB_uc003jlt.3_Silent_p.P81P|FYB_uc003jlu.3_Silent_p.P81P|FYB_uc011cpl.2_Silent_p.P91P	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	81					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			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)			GCTTTAGAAACGGGGGCTTGG	0.552													T	39202820	C	T	39202820	2	4	106	1	0	0	0	0	0	0	0	1	6124	523	19	1		1	FYB	5	39202820	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		39202820	141712440	9	7124											
NUDT12	83594	broad.mit.edu	37	5	102891710	102891710	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:102891710C>T	uc003koi.3	-	3	979	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	NUDT12_uc011cvb.2_Missense_Mutation_p.G278S	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	296						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTATAGCCACCTTCTTCAATT	0.393													T	102891710	C	T	102891710	3	4	106	1	0	0	0	0	1	0	0	0	10728	681	24	3	518	3	NUDT12	5	102891710	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	63688890	102891710	78023550	10	7125											
PCDHGC5	56114	broad.mit.edu	37	5	140711002	140711002	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:140711002G>A	uc003lji.2	+	0	751	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	PCDHGC5_uc011dan.2_Missense_Mutation_p.V251I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	251	Cadherin 3.				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)			CCATATAAATGTCCCCGAAAA	0.493													A	140711002	G	A	140711002	3	1	106	1	0	0	0	0	1	0	0	0	11571	1377	48	3		3	PCDHGC5	5	140711002	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	37819292	140711002	40204258	11	7126											
RUFY1	80230	broad.mit.edu	37	5	179036447	179036447	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:179036447A>C	uc003mka.1	+	17	2054	c.2054A>C	c.(2053-2055)tAc>tCc	p.Y685S	RUFY1_uc003mkb.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkc.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkd.1_Missense_Mutation_p.Y287S	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	685					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCCTCCTACCCCAAGCCG	0.647										HNSCC(44;0.11)			C	179036447	A	C	179036447	3	2	106	1	0	0	0	0	1	0	0	0	13738	391	14	5	2124	5	RUFY1	5	179036447	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08	38325445	179036447	1878813	12	7127											
CARD11	84433	broad.mit.edu	37	7	2951813	2951813	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:2951813G>A	uc003smv.3	-	22	3471	c.3137C>T	c.(3136-3138)gCc>gTc	p.A1046V		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1046	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CACCTTGGCGGCCACAGCTTC	0.602			Mis		DLBCL								A	2951813	G	A	2951813	3	1	106	1	0	0	0	0	1	0	0	0	2645	1203	42	3	339	3	CARD11	7	2951813	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08		2951813	156186850	13	7128											
NXPH1	30010	broad.mit.edu	37	7	8791355	8791355	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:8791355G>A	uc003srv.3	+	2	1683	c.772G>A	c.(772-774)Gac>Aac	p.D258N	NXPH1_uc011jxh.2_Missense_Mutation_p.D141N	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	258	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTGTGCCCTGACTACAACTA	0.443													A	8791355	G	A	8791355	3	1	106	1	0	0	0	0	1	0	0	0	10790	1290	45	3	778	3	NXPH1	7	8791355	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	5839542	8791355	150347308	14	7129											
ZNF713	349075	broad.mit.edu	37	7	56007178	56007178	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:56007178T>C	uc003tra.2	+	6	1618	c.811T>C	c.(811-813)Tca>Cca	p.S271P	ZNF713_uc003trc.1_Missense_Mutation_p.S258P	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGCCACACCTCATCTCTTAG	0.423													C	56007178	T	C	56007178	3	2	106	1	0	0	0	0	1	0	0	0	18114	1551	54	4	786	4	ZNF713	7	56007178	Missense_Mutation	SNP	T	TCGA-06-6698-01A-11D-1845-08	47215823	56007178	103131485	15	7130											
AHCYL2	23382	broad.mit.edu	37	7	129062691	129062691	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:129062691G>T	uc011kov.2	+	12	1535	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	AHCYL2_uc003vot.3_Missense_Mutation_p.R490L|AHCYL2_uc003vov.3_Missense_Mutation_p.R388L|AHCYL2_uc011kox.2_Missense_Mutation_p.R388L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	491					one-carbon metabolic process		adenosylhomocysteinase activity	p.R491L(2)|p.R388L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCGAGTCTGCGGACACCAGAA	0.507													T	129062691	G	T	129062691	3	4	106	1	0	0	0	0	1	0	0	0	411	1116	39	5	1644	5	AHCYL2	7	129062691	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	73055513	129062691	30075972	16	7131											
TP53INP1	94241	broad.mit.edu	37	8	95952365	95952365	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:95952365A>G	uc003yhg.3	-	2	580	c.196T>C	c.(196-198)Ttt>Ctt	p.F66L	TP53INP1_uc003yhh.3_Missense_Mutation_p.F66L	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	66					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAACAGGAAAAGACTGAAGGG	0.463													G	95952365	A	G	95952365	3	3	106	1	0	0	0	0	1	0	0	0	16385	72	3	4	560	4	TP53INP1	8	95952365	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08		95952365	50411657	17	7132											
WDR67	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:124140520_124140521insT	uc003ypp.2	+	14	1975	c.1885_splice	c.e14-1	p.F629_splice	WDR67_uc011lig.2_Splice_Site_p.F629_splice|WDR67_uc011lih.2_Splice_Site_p.F519_splice|WDR67_uc003ypq.2_Splice_Site|WDR67_uc003yps.2_Intron|WDR67_uc003ypu.2_Splice_Site_p.F86_splice	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	629						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTTCTTACAGTTTTTTTTTCA	0.322													T	124140521	-	T	124140520	8	5	106	1	0	1	1	0	0	0	1	0	17315	1043	36	0	1938	0	WDR67	8	124140520	Splice_Site	INS	-	TCGA-06-6698-01A-11D-1845-08	28188155	124140520	22223502	18	7133											
CYP11B1	1584	broad.mit.edu	37	8	143956491	143956491	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:143956491C>G	uc010mey.3	-	9	1500	c.1493G>C	c.(1492-1494)cGc>cCc	p.R498P	CYP11B1_uc010mex.3_Missense_Mutation_p.R126P|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Missense_Mutation_p.R427P|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	427					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R427H(1)|p.L497I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GTCTAGCCAGCGCTGGGGGTT	0.647									Familial Hyperaldosteronism type I				G	143956491	C	G	143956491	3	3	106	1	0	0	0	0	1	0	0	0	4145	768	27	5	239	5	CYP11B1	8	143956491	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	19815971	143956491	2407531	19	7134											
C9orf64	84267	broad.mit.edu	37	9	86571236	86571236	+	Silent	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:86571236G>A	uc004anb.3	-	0	428	c.180C>T	c.(178-180)gcC>gcT	p.A60A	C9orf64_uc004anc.3_Intron	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	60										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CGGCCTCGTCGGCCGCCCTGG	0.647													A	86571236	G	A	86571236	2	1	106	1	0	0	0	0	0	0	0	1	2489	1103	39	2		2	C9orf64	9	86571236	Silent	SNP	G	TCGA-06-6698-01A-11D-1845-08		86571236	54642195	20	7135											
SEC16A	9919	broad.mit.edu	37	9	139369673	139369673	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:139369673C>G	uc004chx.3	-	2	2704	c.2395G>C	c.(2395-2397)Gag>Cag	p.E799Q	SEC16A_uc004chv.4_Missense_Mutation_p.E426Q|SEC16A_uc004chw.3_Missense_Mutation_p.E799Q|SEC16A_uc010nbn.3_Missense_Mutation_p.E799Q|SEC16A_uc010nbo.1_Missense_Mutation_p.E799Q	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	621					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCTCCTCCTCTCCCATTTTG	0.572													G	139369673	C	G	139369673	3	3	106	1	0	0	0	0	1	0	0	0	13986	922	32	5	4798	5	SEC16A	9	139369673	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	52798437	139369673	1843758	21	7136											
RBP3	5949	broad.mit.edu	37	10	48389610	48389610	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr10:48389610T>A	uc001jez.3	-	0	1382	c.1268A>T	c.(1267-1269)cAa>cTa	p.Q423L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	423	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CACCAGTGCTTGCCGGATAGC	0.627													A	48389610	T	A	48389610	3	1	106	1	0	0	0	0	1	0	0	0	13157	1812	63	5	2491	5	RBP3	10	48389610	Missense_Mutation	SNP	T	TCGA-06-6698-01A-11D-1845-08		48389610	87145137	22	7137											
OR51F1	256892	broad.mit.edu	37	11	4790374	4790374	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:4790374C>T	uc010qyl.2	-	0	774	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	258						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGACAGGCTCAGCATGTGGA	0.522													T	4790374	C	T	4790374	2	4	106	1	0	0	0	0	0	0	0	1	11096	813	29	3		3	OR51F1	11	4790374	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		4790374	130216142	23	7138											
SLC22A25	387601	broad.mit.edu	37	11	62985164	62985164	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:62985164C>T	uc001nwr.1	-	2	550	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.A184T	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	184					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCTACAATGGCGAGCTGGAGG	0.488													T	62985164	C	T	62985164	3	4	106	1	0	0	0	0	1	0	0	0	14454	768	27	1	1121	1	SLC22A25	11	62985164	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	58194790	62985164	72021352	24	7139											
NLRX1	79671	broad.mit.edu	37	11	119052983	119052983	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:119052983C>T	uc001pvu.3	+	8	2750	c.2535C>T	c.(2533-2535)aaC>aaT	p.N845N	NLRX1_uc001pvv.3_Silent_p.N845N|NLRX1_uc001pvw.3_Silent_p.N845N|NLRX1_uc001pvx.3_Silent_p.N845N	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	845	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGCGTACAACGGTGCTGGTG	0.677													T	119052983	C	T	119052983	2	4	106	1	0	0	0	0	0	0	0	1	10485	535	19	1		1	NLRX1	11	119052983	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	56067819	119052983	15953533	25	7140											
ARHGEF12	23365	broad.mit.edu	37	11	120352059	120352059	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:120352059C>T	uc001pxl.2	+	38	4663	c.4328C>T	c.(4327-4329)aCa>aTa	p.T1443I	ARHGEF12_uc009zat.3_Missense_Mutation_p.T1424I|ARHGEF12_uc009zau.1_Missense_Mutation_p.T1340I	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1443					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGCCCATGACAGGCATCCCT	0.512			T	MLL	AML								T	120352059	C	T	120352059	3	4	106	1	0	0	0	0	1	0	0	0	897	478	17	3	4482	3	ARHGEF12	11	120352059	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	1299076	120352059	14654457	26	7141											
C1QL4	338761	broad.mit.edu	37	12	49726939	49726939	+	Silent	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr12:49726939G>A	uc001rtz.1	-	1	1326	c.615C>T	c.(613-615)gaC>gaT	p.D205D		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	Homo sapiens complement component 1, q subcomponent-like 4 (C1QL4), mRNA.	205	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						CGTCGCCCACGTCCAGGTGCA	0.597													A	49726939	G	A	49726939	2	1	106	1	0	0	0	0	0	0	0	1	1961	1136	40	1		1	C1QL4	12	49726939	Silent	SNP	G	TCGA-06-6698-01A-11D-1845-08		49726939	84124956	27	7142											
NHLRC3	387921	broad.mit.edu	37	13	39613426	39613426	+	Splice_Site	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:39613426G>A	uc001uxc.3	+	2	559	c.237_splice	c.e2+1	p.Q79_splice	PROSER1_uc001uwy.3_5'Flank|PROSER1_uc001uwz.3_5'Flank|NHLRC3_uc001uxd.3_Splice_Site_p.Q79_splice|NHLRC3_uc001uxe.3_Splice_Site	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA.	79						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CATAGGTCAAGTAAGTAAATA	0.388													A	39613426	G	A	39613426	5	1	106	1	0	0	0	0	0	0	1	0	10407	1043	36	3	244	3	NHLRC3	13	39613426	Splice_Site	SNP	G	TCGA-06-6698-01A-11D-1845-08		39613426	75556452	28	7143											
RB1	5925	broad.mit.edu	37	13	48916734	48916734	+	Splice_Site	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:48916734G>A	uc001vcb.3	+	3	431	c.265_splice	c.e3-1	p.G89_splice	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	89					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGTTCCCAGGGAGGTTATA	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	48916734	G	A	48916734	5	1	106	1	0	0	0	0	0	0	1	0	13098	1014	35	3	274	3	RB1	13	48916734	Splice_Site	SNP	G	TCGA-06-6698-01A-11D-1845-08	9303308	48916734	66253144	29	7144											
RB1	5925	broad.mit.edu	37	13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:48941638_48941641delTCTT	uc001vcb.3	+	9	1114_1117	c.948_951delTCTT	c.(946-951)aatcttfs	p.N316fs	RB1_uc010act.1_Frame_Shift_Del_p.N17fs	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	316					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48941641	TCTT	-	48941638	7	5	106	1	0	1	0	1	0	0	0	0	13098	1432	50	0	986	0	RB1	13	48941638	Frame_Shift_Del	DEL	TCTT	TCGA-06-6698-01A-11D-1845-08	24904	48941638	66228240	30	7145											
MTA1	9112	broad.mit.edu	37	14	105936268	105936268	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr14:105936268C>T	uc001yqx.3	+	19	2123	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Missense_Mutation_p.R634W|MTA1_uc001yrb.3_Missense_Mutation_p.R411W	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	646					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGTCAAGCGGCGGCGGATGAA	0.677													T	105936268	C	T	105936268	3	4	106	1	0	0	0	0	1	0	0	0	9908	759	27	1	2014	1	MTA1	14	105936268	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		105936268	1413272	31	7146											
TSC2	7249	broad.mit.edu	37	16	2134716	2134716	+	Missense_Mutation	SNP	G	G	A	rs137854099		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:2134716G>A	uc002con.3	+	34	4599	c.4493_splice	c.e34+1	p.S1498_splice	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Splice_Site_p.S1475_splice|TSC2_uc002coo.3_Splice_Site_p.S1431_splice|TSC2_uc010uvv.2_Splice_Site_p.S1395_splice|TSC2_uc010uvw.2_Splice_Site_p.S1383_splice|TSC2_uc002cop.3_Splice_Site_p.S1254_splice|TSC2_uc002coq.3_Splice_Site_p.S273_splice	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1498			S -> N (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATCAACCCCAGGTGGGCCTCT	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				A	2134716	G	A	2134716	3	1	106	1	0	0	0	0	1	0	0	0	16603	1014	35	3	4623	3	TSC2	16	2134716	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08		2134716	88220037	32	7147											
GRIN2A	2903	broad.mit.edu	37	16	9862916	9862916	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:9862916A>T	uc010uym.2	-	12	2697	c.2387T>A	c.(2386-2388)cTc>cAc	p.L796H	GRIN2A_uc002czo.4_Missense_Mutation_p.L796H|GRIN2A_uc010uyn.2_Missense_Mutation_p.L639H|GRIN2A_uc002czr.4_Missense_Mutation_p.L796H	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	796					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATCCCAGTGAGCCACAGGGT	0.567													T	9862916	A	T	9862916	3	4	106	1	0	0	0	0	1	0	0	0	6779	304	11	5	2015	5	GRIN2A	16	9862916	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08	7728200	9862916	80491837	33	7148											
IL4R	3566	broad.mit.edu	37	16	27373977	27373977	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:27373977C>G	uc002don.3	+	10	1546	c.1304C>G	c.(1303-1305)cCt>cGt	p.P435R	IL4R_uc002dop.4_Missense_Mutation_p.P420R|IL4R_uc010bxy.3_Missense_Mutation_p.P435R|IL4R_uc002doo.3_Missense_Mutation_p.P275R	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	435					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTCTTCCACCTTCGGGAAGT	0.612													G	27373977	C	G	27373977	3	3	106	1	0	0	0	0	1	0	0	0	7698	681	24	5	1356	5	IL4R	16	27373977	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	17511061	27373977	62980776	34	7149											
CDH8	1006	broad.mit.edu	37	16	61689535	61689535	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:61689535C>A	uc002eog.2	-	10	2700	c.1745G>T	c.(1744-1746)gGa>gTa	p.G582V		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	582	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGAGGATTTCCACTATCACT	0.438													A	61689535	C	A	61689535	3	1	106	1	0	0	0	0	1	0	0	0	3116	855	30	5	662	5	CDH8	16	61689535	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	34315558	61689535	28665218	35	7150											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	106	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		7578406	73616804	36	7151											
NF1	4763	broad.mit.edu	37	17	29661898	29661898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:29661898G>A	uc002hgg.3	+	39	6238	c.5855G>A	c.(5854-5856)tGg>tAg	p.W1952*	NF1_uc002hgh.3_Nonsense_Mutation_p.W1931*|NF1_uc010cso.3_Nonsense_Mutation_p.W140*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1952			W -> R (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.M1949fs*2(1)|p.P1951fs*6(1)|p.P1951L(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGACTCCATGGCTGTCAAAT	0.343			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29661898	G	A	29661898	4	1	106	1	0	0	0	0	0	1	0	0	10356	1357	47	3	6074	3	NF1	17	29661898	Nonsense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	22083492	29661898	51533312	37	7152											
EFTUD2	9343	broad.mit.edu	37	17	42942379	42942379	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:42942379G>A	uc002ihn.2	-	13	1465	c.1204C>T	c.(1204-1206)Cac>Tac	p.H402Y	EFTUD2_uc010wje.1_Missense_Mutation_p.H367Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H392Y	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	402						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTCGTCAGGTGGATGCCAAGC	0.557											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	42942379	G	A	42942379	3	1	106	1	0	0	0	0	1	0	0	0	4961	1348	47	3	1774	3	EFTUD2	17	42942379	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	13280481	42942379	38252831	38	7153											
LPO	4025	broad.mit.edu	37	17	56344837	56344837	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:56344837C>T	uc002ivt.3	+	11	2137	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	LPO_uc010wns.2_Silent_p.I548I|LPO_uc010dcp.3_Silent_p.I524I|LPO_uc010dcq.3_Silent_p.I278I|LPO_uc010dcr.3_Silent_p.I170I	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	607					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CTGACAACATCGACATCTGGA	0.587													T	56344837	C	T	56344837	2	4	106	1	0	0	0	0	0	0	0	1	8922	874	31	2		2	LPO	17	56344837	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	13402458	56344837	24850373	39	7154											
ALPK2	115701	broad.mit.edu	37	18	56203541	56203541	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:56203541A>G	uc002lhj.4	-	4	4092	c.3878T>C	c.(3877-3879)aTa>aCa	p.I1293T	ALPK2_uc002lhk.1_Missense_Mutation_p.I624T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1293							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAATGCTGCTATTTCAGAGGG	0.507													G	56203541	A	G	56203541	3	3	106	1	0	0	0	0	1	0	0	0	545	449	16	4	2670	4	ALPK2	18	56203541	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08		56203541	21873707	40	7155											
SERPINB7	8710	broad.mit.edu	37	18	61471670	61471670	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:61471670G>A	uc002ljl.3	+	7	1040	c.944G>A	c.(943-945)cGt>cAt	p.R315H	SERPINB7_uc002ljm.3_Missense_Mutation_p.R315H|SERPINB7_uc010xet.2_Missense_Mutation_p.R298H|SERPINB7_uc010dqg.3_Missense_Mutation_p.R315H	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	315					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.R315H(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCGGGGGGTCGTCTGTATATA	0.428													A	61471670	G	A	61471670	3	1	106	1	0	0	0	0	1	0	0	0	14106	1145	40	1	970	1	SERPINB7	18	61471670	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	5268129	61471670	16605578	41	7156											
KCNG2	26251	broad.mit.edu	37	18	77624159	77624159	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:77624159C>T	uc010xfl.2	+	0	492	c.492C>T	c.(490-492)cgC>cgT	p.R164R		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	164					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ggcgccTGCGCGACGTGGTGG	0.796													T	77624159	C	T	77624159	2	4	106	1	0	0	0	0	0	0	0	1	8028	755	27	1		1	KCNG2	18	77624159	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	16152489	77624159	453089	42	7157											
CD209	30835	broad.mit.edu	37	19	7812212	7812212	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:7812212C>T	uc002mht.2	-	1	153	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	CD209_uc010xju.1_Missense_Mutation_p.R29Q|CD209_uc010dvp.2_Missense_Mutation_p.R29Q|CD209_uc002mhr.2_Missense_Mutation_p.R29Q|CD209_uc002mhs.2_Missense_Mutation_p.R29Q|CD209_uc002mhu.2_Missense_Mutation_p.R29Q|CD209_uc010dvq.2_Missense_Mutation_p.R29Q|CD209_uc002mhq.2_Missense_Mutation_p.R29Q|CD209_uc002mhv.2_Missense_Mutation_p.R29Q|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.R29Q	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	29					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R29R(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTGTATCCTCGAGTCTGTCG	0.577													T	7812212	C	T	7812212	3	4	106	1	0	0	0	0	1	0	0	0	2984	884	31	2	1152	2	CD209	19	7812212	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		7812212	51316771	43	7158											
IGFL1	374918	broad.mit.edu	37	19	46733408	46733408	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:46733408C>T	uc002pee.3	+	1	92	c.69C>T	c.(67-69)caC>caT	p.H23H		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	Homo sapiens IGF-like family member 1 (IGFL1), mRNA.	23						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		TCTGCTCACACGGAGCCCCAG	0.597													T	46733408	C	T	46733408	2	4	106	1	0	0	0	0	0	0	0	1	7586	535	19	1		1	IGFL1	19	46733408	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	38921196	46733408	12395575	44	7159											
KLK6	5653	broad.mit.edu	37	19	51462532	51462532	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:51462532C>T	uc002puh.3	-	4	715	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	KLK6_uc010eoj.3_Missense_Mutation_p.E80K|KLK6_uc002pui.3_Missense_Mutation_p.R208Q|KLK6_uc002puj.3_Missense_Mutation_p.R101Q|KLK6_uc010ycn.2_Missense_Mutation_p.R101Q|KLK6_uc002pul.3_Missense_Mutation_p.R208Q|KLK6_uc002pum.3_Missense_Mutation_p.R101Q	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	208	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.P217H(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CACAAGGCCTCGGAGGTGGTC	0.512													T	51462532	C	T	51462532	3	4	106	1	0	0	0	0	1	0	0	0	8408	884	31	2	115	2	KLK6	19	51462532	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	4729124	51462532	7666451	45	7160											
TSHZ2	128553	broad.mit.edu	37	20	51870294	51870294	+	Silent	SNP	C	C	T			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr20:51870294C>T	uc002xwo.3	+	1	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	TSHZ2_uc021wex.1_Silent_p.C96C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	99					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			AGAGTGTCTGCGGCAGAGATG	0.512													T	51870294	C	T	51870294	2	4	106	1	0	0	0	0	0	0	0	1	16621	776	27	1		1	TSHZ2	20	51870294	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		51870294	11155226	46	7161											
RRP1B	23076	broad.mit.edu	37	21	45092195	45092195	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr21:45092195C>A	uc002zdk.3	+	2	334	c.220C>A	c.(220-222)Ctc>Atc	p.L74I		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	74					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCAGGAAGAGCTCGCCAACAC	0.552													A	45092195	C	A	45092195	3	1	106	1	0	0	0	0	1	0	0	0	13688	797	28	5	230	5	RRP1B	21	45092195	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		45092195	3037700	47	7162											
MAGT1	84061	broad.mit.edu	37	X	77109426	77109426	+	Silent	SNP	T	T	C			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chrX:77109426T>C	uc004fof.3	-	6	956	c.894A>G	c.(892-894)gtA>gtG	p.V298V	MAGT1_uc004fog.4_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	266					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGTTTCAGCTACAAACTGGG	0.348													C	77109426	T	C	77109426	2	2	106	1	0	0	0	0	0	0	0	1	9196	1509	53	4		4	MAGT1	23	77109426	Silent	SNP	T	TCGA-06-6698-01A-11D-1845-08		77109426	78161134	48	7163											
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													-	150817144	GCT	-	150817142	7	5	106	1	0	1	0	1	0	0	0	0	11471	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-06-6698-01A-11D-1845-08	73707716	150817142	4453418	49	7164											
CDCP2	200008	broad.mit.edu	37	1	54605749	54605749	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:54605749C>A	uc001cwv.1	-	3	1642	c.794G>T	c.(793-795)cGg>cTg	p.R265L		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	265	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GAAGTTGCCCCGCATGGCCAT	0.602													A	54605749	C	A	54605749	3	1	107	1	0	0	0	0	1	0	0	0	3094	652	23	5	559	5	CDCP2	1	54605749	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		54605749	194644872	1	7165											
GPR137B	7107	broad.mit.edu	37	1	236343286	236343286	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:236343286C>T	uc001hxq.3	+	3	886	c.795C>T	c.(793-795)agC>agT	p.S265S		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	265						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGAACAAGAGCGTCCATTCCT	0.527													T	236343286	C	T	236343286	2	4	107	1	0	0	0	0	0	0	0	1	6646	767	27	1		1	GPR137B	1	236343286	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	181737537	236343286	12907335	2	7166											
IHH	3549	broad.mit.edu	37	2	219920384	219920384	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr2:219920384C>T	uc002vjo.2	-	2	830	c.781G>A	c.(781-783)Gag>Aag	p.E261K		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	261					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTGAGTCTCGATGACCTGG	0.647													T	219920384	C	T	219920384	3	4	107	1	0	0	0	0	1	0	0	0	7607	893	31	2	458	2	IHH	2	219920384	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		219920384	23278989	3	7167											
PCYT1A	5130	broad.mit.edu	37	3	195965686	195965686	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr3:195965686C>T	uc003fwg.3	-	9	1150	c.977G>A	c.(976-978)cGc>cAc	p.R326H	AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Missense_Mutation_p.R326H	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	326	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	GGAGCGCTCGCGAGTAGGGCT	0.607													T	195965686	C	T	195965686	3	4	107	1	0	0	0	0	1	0	0	0	11610	768	27	1	130	1	PCYT1A	3	195965686	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		195965686	2056744	4	7168											
TLR10	81793	broad.mit.edu	37	4	38777038	38777038	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:38777038G>T	uc003gtj.3	-	3	812	c.174C>A	c.(172-174)aaC>aaA	p.N58K	TLR10_uc021xnk.1_Missense_Mutation_p.N44K|TLR10_uc003gti.3_Missense_Mutation_p.N58K|TLR10_uc021xnl.1_Missense_Mutation_p.N58K|TLR10_uc003gtk.3_Missense_Mutation_p.N58K|TLR10_uc021xnm.1_Missense_Mutation_p.N58K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	58					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAAAAAGGAGGTTATAGGATA	0.428													T	38777038	G	T	38777038	3	4	107	1	0	0	0	0	1	0	0	0	15947	1252	44	5	2265	5	TLR10	4	38777038	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		38777038	152377238	5	7169											
PDS5A	23244	broad.mit.edu	37	4	39839671	39839671	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:39839671C>T	uc003guv.4	-	31	4355	c.3815G>A	c.(3814-3816)cGt>cAt	p.R1272H		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	1272					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTGGGTCGACGTCCTCTCCT	0.473													T	39839671	C	T	39839671	3	4	107	1	0	0	0	0	1	0	0	0	11691	536	19	1	206	1	PDS5A	4	39839671	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	1062633	39839671	151314605	6	7170											
DCHS2	54798	broad.mit.edu	37	4	155157533	155157533	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:155157533G>A	uc003inw.2	-	24	6906	c.6906C>T	c.(6904-6906)gtC>gtT	p.V2302V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2302	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGGACACTGACAAACACAA	0.373													A	155157533	G	A	155157533	2	1	107	1	0	0	0	0	0	0	0	1	4288	1277	45	3		3	DCHS2	4	155157533	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08	115317862	155157533	35996743	7	7171											
ANP32C	23520	broad.mit.edu	37	4	165118560	165118560	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:165118560T>C	uc011cjk.2	-	0	304	c.304A>G	c.(304-306)Ata>Gta	p.I102V	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	102										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		AGTGGCTCTATTGTGCTGAGG	0.428													C	165118560	T	C	165118560	3	2	107	1	0	0	0	0	1	0	0	0	707	1493	52	4	403	4	ANP32C	4	165118560	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08	9961027	165118560	26035716	8	7172											
PLEKHG4B	153478	broad.mit.edu	37	5	162950	162950	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:162950C>T	uc003jak.2	+	10	1745	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	565					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			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)		AGGCCTTCCCCGGGGCAGGTG	0.667													T	162950	C	T	162950	2	4	107	1	0	0	0	0	0	0	0	1	12072	639	23	2		2	PLEKHG4B	5	162950	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		162950	180752310	9	7173											
KLHL3	26249	broad.mit.edu	37	5	137045486	137045486	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:137045486C>T	uc010jek.3	-	2	638	c.194G>A	c.(193-195)cGt>cAt	p.R65H	MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Missense_Mutation_p.R25H	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	65	BTB.					cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.R65H(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CAGGACCACACGGTGGGCTTC	0.547													T	137045486	C	T	137045486	3	4	107	1	0	0	0	0	1	0	0	0	8383	536	19	1	1621	1	KLHL3	5	137045486	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	136882536	137045486	43869774	10	7174											
PCDHAC2	56144	broad.mit.edu	37	5	140188686	140188686	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:140188686C>T	uc003lhi.2	+	0	2015	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	649	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677													T	140188686	C	T	140188686	2	4	107	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHAC2	5	140188686	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	3143200	140188686	40726574	11	7175											
PCDHGC5	56111	broad.mit.edu	37	5	140736994	140736994	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:140736994G>A	uc003ljq.2	+	0	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Missense_Mutation_p.V743M|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	753					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)			CTTTGTGGGCGTGGACGGGGT	0.617													A	140736994	G	A	140736994	3	1	107	1	0	0	0	0	1	0	0	0	11571	1145	40	1		1	PCDHGC5	5	140736994	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	548308	140736994	40178266	12	7176											
SYNGAP1	8831	broad.mit.edu	37	6	33405652	33405652	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:33405652C>T	uc011dri.2	+	7	1165	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R309W|SYNGAP1_uc010juy.3_Missense_Mutation_p.R309W|SYNGAP1_uc010juz.3_Missense_Mutation_p.R36W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	324	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCGTGCCCTGCGGCTGCATCT	0.627													T	33405652	C	T	33405652	3	4	107	1	0	0	0	0	1	0	0	0	15444	759	27	1	1000	1	SYNGAP1	6	33405652	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		33405652	137709415	13	7177											
ABCC10	89845	broad.mit.edu	37	6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:43403588C>T	uc003ouy.1	+	4	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	570						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567													T	43403588	C	T	43403588	3	4	107	1	0	0	0	0	1	0	0	0	50	643	23	2	1589	2	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	9997936	43403588	127711479	14	7178											
TFAP2D	83741	broad.mit.edu	37	6	50696975	50696975	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:50696975C>T	uc003paf.3	+	4	1345	c.833C>T	c.(832-834)gCa>gTa	p.A278V	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	278							DNA binding|sequence-specific DNA binding transcription factor activity			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)					AACTTACCAGCAGGAAGACGG	0.423													T	50696975	C	T	50696975	3	4	107	1	0	0	0	0	1	0	0	0	15787	710	25	3	851	3	TFAP2D	6	50696975	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	7293387	50696975	120418092	15	7179											
SIM1	6492	broad.mit.edu	37	6	100901684	100901684	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:100901684C>T	uc003pqj.4	-	1	679	c.212G>A	c.(211-213)aGc>aAc	p.S71N	SIM1_uc021zdg.1_Missense_Mutation_p.S71N|SIM1_uc010kcu.3_Missense_Mutation_p.S71N	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	71					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCCAGGGGGCTGGTCCGACT	0.612													T	100901684	C	T	100901684	3	4	107	1	0	0	0	0	1	0	0	0	14323	797	28	3	2128	3	SIM1	6	100901684	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	50204709	100901684	70213383	16	7180											
ZBTB24	9841	broad.mit.edu	37	6	109787239	109787239	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:109787239C>T	uc003ptl.1	-	6	2077	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	MICAL1_uc011eaq.2_5'Flank|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.V581M|ZBTB24_uc010kdt.1_Non-coding_Transcript	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.V637M(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AGAGTGATCACGTGCACTGGC	0.458													T	109787239	C	T	109787239	3	4	107	1	0	0	0	0	1	0	0	0	17528	536	19	1	188	1	ZBTB24	6	109787239	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	8885555	109787239	61327828	17	7181											
PARK2	5071	broad.mit.edu	37	6	161771139	161771139	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:161771139C>T	uc021zhu.1	-	12	1622	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_3'UTR|PARK2_uc010kkd.3_Missense_Mutation_p.D273N|PARK2_uc003qtx.4_Missense_Mutation_p.D464N|PARK2_uc021zhs.1_Missense_Mutation_p.D386N|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.D436N|PARK2_uc003qtz.4_Missense_Mutation_p.D315N|PARK2_uc021zhv.1_Missense_Mutation_p.D385N|PARK2_uc021zhw.1_Missense_Mutation_p.D273N|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.D414N|PARK2_uc011egf.2_Missense_Mutation_p.D138N	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	464					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTACACGTCGAACCAGTGG	0.592													T	161771139	C	T	161771139	3	4	107	1	0	0	0	0	1	0	0	0	11449	884	31	2	11	2	PARK2	6	161771139	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	51983900	161771139	9343928	18	7182											
PMS2	5395	broad.mit.edu	37	7	6027045	6027045	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:6027045T>C	uc003spl.3	-	10	1438	c.1351A>G	c.(1351-1353)Agg>Ggg	p.R451G	PMS2_uc003spj.3_Missense_Mutation_p.R345G|PMS2_uc003spk.3_Missense_Mutation_p.R316G|PMS2_uc011jwl.2_Missense_Mutation_p.R316G|PMS2_uc010ktg.3_Missense_Mutation_p.R140G|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.R451G	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	451					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCATACCCCTTTTCTGTCCT	0.532			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	6027045	T	C	6027045	3	2	107	1	0	0	0	0	1	0	0	0	12143	1608	56	4	1257	4	PMS2	7	6027045	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08		6027045	153111618	19	7183											
MLXIPL	51085	broad.mit.edu	37	7	73010591	73010591	+	Silent	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:73010591C>A	uc003tyn.1	-	12	1998	c.1950G>T	c.(1948-1950)cgG>cgT	p.R650R	MLXIPL_uc003tyj.1_Silent_p.R29R|MLXIPL_uc003tyk.1_Silent_p.R648R|MLXIPL_uc003tym.1_Silent_p.R650R|MLXIPL_uc003tyl.1_Silent_p.R648R|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.R556R	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	650					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGTGATACGCCGGTTCTCGG	0.627													A	73010591	C	A	73010591	2	1	107	1	0	0	0	0	0	0	0	1	9637	726	26	5		5	MLXIPL	7	73010591	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	66983546	73010591	86128072	20	7184											
PCLO	27445	broad.mit.edu	37	7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:82595385delT	uc003uhx.2	-	3	4008	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1179					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						AGGGGTTGGCTTTTTTTCTTC	0.383													-	82595385	T	-	82595385	7	5	107	1	0	1	0	1	0	0	0	0	11583	1609	56	0	11814	0	PCLO	7	82595385	Frame_Shift_Del	DEL	T	TCGA-06-6699-01A-11D-1845-08	9584794	82595385	76543278	21	7185											
SEMA3E	9723	broad.mit.edu	37	7	83047753	83047753	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:83047753C>T	uc003uhy.2	-	4	1124	c.503G>A	c.(502-504)gGc>gAc	p.G168D	SEMA3E_uc022agy.1_Missense_Mutation_p.G108D	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	168	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGGACATCTGCCCCTTCCTCT	0.403													T	83047753	C	T	83047753	3	4	107	1	0	0	0	0	1	0	0	0	14028	739	26	3	1876	3	SEMA3E	7	83047753	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	452368	83047753	76090910	22	7186											
SLC26A5	375611	broad.mit.edu	37	7	103032068	103032068	+	Splice_Site	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:103032068C>T	uc003vbz.3	-	11	1495	c.1233_splice	c.e11+1	p.Q411_splice	SLC26A5_uc003vbt.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vbu.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Splice_Site|SLC26A5_uc003vby.3_Splice_Site|SLC26A5_uc010liy.3_Splice_Site|SLC26A5_uc003vbx.3_Splice_Site_p.Q411_splice	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	411					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TATGTACATACCTGTGTCTTC	0.438													T	103032068	C	T	103032068	5	4	107	1	0	0	0	0	0	0	1	0	14520	521	18	3	1081	3	SLC26A5	7	103032068	Splice_Site	SNP	C	TCGA-06-6699-01A-11D-1845-08	19984315	103032068	56106595	23	7187											
C7orf66	154907	broad.mit.edu	37	7	108524200	108524200	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:108524200C>T	uc003vfo.3	-	1	260	c.212G>A	c.(211-213)cGt>cAt	p.R71H		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	71						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CATCATGTGACGATATTGAGC	0.418													T	108524200	C	T	108524200	3	4	107	1	0	0	0	0	1	0	0	0	2412	536	19	1	139	1	C7orf66	7	108524200	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	5492132	108524200	50614463	24	7188											
LMBR1	64327	broad.mit.edu	37	7	156518202	156518202	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:156518202G>T	uc010lqn.3	-	14	1423	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	LMBR1_uc003wmv.4_Missense_Mutation_p.S210Y|LMBR1_uc003wmw.4_Missense_Mutation_p.S362Y|LMBR1_uc003wmx.4_Missense_Mutation_p.S210Y|LMBR1_uc011kvx.2_Missense_Mutation_p.S341Y	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	362						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GCCGACAACAGAGGACACCAT	0.413													T	156518202	G	T	156518202	3	4	107	1	0	0	0	0	1	0	0	0	8840	942	33	5	403	5	LMBR1	7	156518202	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	47994002	156518202	2620461	25	7189											
PTPRN2	5799	broad.mit.edu	37	7	157475460	157475460	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:157475460C>T	uc003wno.3	-	12	2079	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	PTPRN2_uc003wnp.3_Missense_Mutation_p.G636E|PTPRN2_uc003wnq.3_Missense_Mutation_p.G624E|PTPRN2_uc003wnr.3_Missense_Mutation_p.G615E|PTPRN2_uc011kwa.2_Missense_Mutation_p.G676E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	653						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCCCCTAGTCCCGAGAGCTT	0.567													T	157475460	C	T	157475460	3	4	107	1	0	0	0	0	1	0	0	0	12808	855	30	3	1133	3	PTPRN2	7	157475460	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	957258	157475460	1663203	26	7190											
PRSS55	203074	broad.mit.edu	37	8	10396129	10396129	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:10396129C>T	uc003wta.3	+	4	925	c.885C>T	c.(883-885)atC>atT	p.I295I	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	295	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.I295I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ACCTCTGGATCGAGAAAGTGA	0.532													T	10396129	C	T	10396129	2	4	107	1	0	0	0	0	0	0	0	1	12634	874	31	2		2	PRSS55	8	10396129	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		10396129	135967893	27	7191											
CPA6	57094	broad.mit.edu	37	8	68396059	68396059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:68396059G>A	uc003xxq.4	-	7	1038	c.782C>T	c.(781-783)tCa>tTa	p.S261L	CPA6_uc003xxr.4_Missense_Mutation_p.S113L|CPA6_uc003xxs.2_Missense_Mutation_p.S261L	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	261					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GCGAAACCTTGAGTTCCTTGA	0.408													A	68396059	G	A	68396059	3	1	107	1	0	0	0	0	1	0	0	0	3794	1294	45	3	547	3	CPA6	8	68396059	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	57999930	68396059	77967963	28	7192											
FER1L6	654463	broad.mit.edu	37	8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:125131850G>A	uc003yqw.3	+	40	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1798						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)			CCCCTCAGCCGCCCAGACACC	0.473													A	125131850	G	A	125131850	3	1	107	1	0	0	0	0	1	0	0	0	5815	1087	38	1	5551	1	FER1L6	8	125131850	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	56735791	125131850	21232172	29	7193											
TG	7038	broad.mit.edu	37	8	133879248	133879248	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:133879248G>A	uc003ytw.3	+	0	44	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			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)		CCAGGAAAATGGCCCTGGTCC	0.592													A	133879248	G	A	133879248	3	1	107	1	0	0	0	0	1	0	0	0	15810	1348	47	3	5	3	TG	8	133879248	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	8747398	133879248	12484774	30	7194											
PTPDC1	138639	broad.mit.edu	37	9	96860365	96860365	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr9:96860365C>A	uc010mrj.2	+	5	1619	c.1517C>A	c.(1516-1518)aCa>aAa	p.T506K	PTPDC1_uc004auf.2_Missense_Mutation_p.T452K|PTPDC1_uc004aug.2_Missense_Mutation_p.T452K|PTPDC1_uc004auh.2_Missense_Mutation_p.T504K|PTPDC1_uc010mri.2_Missense_Mutation_p.T504K	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	452							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GTTCGCAGCACACTTTCTTTC	0.483													A	96860365	C	A	96860365	3	1	107	1	0	0	0	0	1	0	0	0	12773	478	17	5	1619	5	PTPDC1	9	96860365	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		96860365	44353066	31	7195											
DTX4	23220	broad.mit.edu	37	11	58949764	58949764	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr11:58949764C>T	uc001nns.2	+	1	1021	c.764C>T	c.(763-765)tCg>tTg	p.S255L	DTX4_uc001nnr.2_Missense_Mutation_p.S149L	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	255					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ACCGCCCCATCGCAGGTGATC	0.657													T	58949764	C	T	58949764	3	4	107	1	0	0	0	0	1	0	0	0	4797	893	31	2	770	2	DTX4	11	58949764	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		58949764	76056752	32	7196											
MMP13	4322	broad.mit.edu	37	11	102826186	102826186	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr11:102826186C>T	uc001phl.3	-	1	186	c.157G>A	c.(157-159)Gcg>Acg	p.A53T		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	53					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.A53A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGGATTCCCGCGAGATTTGTA	0.458													T	102826186	C	T	102826186	3	4	107	1	0	0	0	0	1	0	0	0	9652	768	27	1	1294	1	MMP13	11	102826186	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	43876422	102826186	32180330	33	7197											
IL23A	51561	broad.mit.edu	37	12	56733735	56733735	+	Silent	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr12:56733735T>C	uc001sla.3	+	3	583	c.417T>C	c.(415-417)ggT>ggC	p.G139G		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.	139					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						AGCCTGAGGGTCACCACTGGG	0.572													C	56733735	T	C	56733735	2	2	107	1	0	0	0	0	0	0	0	1	7675	1654	58	4		4	IL23A	12	56733735	Silent	SNP	T	TCGA-06-6699-01A-11D-1845-08		56733735	77118160	34	7198											
CUX2	23316	broad.mit.edu	37	12	111785603	111785603	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr12:111785603G>A	uc001tsa.2	+	21	4089	c.3935G>A	c.(3934-3936)gGc>gAc	p.G1312D		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAGAGGCAGGCAGCCAGCCC	0.612													A	111785603	G	A	111785603	3	1	107	1	0	0	0	0	1	0	0	0	4065	1203	42	3	4021	3	CUX2	12	111785603	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	55051868	111785603	22066292	35	7199											
FAM124A	220108	broad.mit.edu	37	13	51825704	51825704	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr13:51825704C>T	uc001vff.2	+	3	477	c.309C>T	c.(307-309)aaC>aaT	p.N103N	FAM124A_uc001vfe.3_Silent_p.N67N|FAM124A_uc001vfg.2_Silent_p.N67N	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	67										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCATCGACAACGTCCTGGCGT	0.687													T	51825704	C	T	51825704	2	4	107	1	0	0	0	0	0	0	0	1	5425	535	19	1		1	FAM124A	13	51825704	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		51825704	63344174	36	7200											
MAX	4149	broad.mit.edu	37	14	65569050	65569050	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:65569050T>A	uc001xif.1	-	0	178	c.8A>T	c.(7-9)gAt>gTt	p.D3V	MAX_uc001xic.1_Missense_Mutation_p.D3V|MAX_uc001xie.1_Missense_Mutation_p.D3V|MAX_uc001xig.1_Missense_Mutation_p.D3V|MAX_uc001xih.1_Non-coding_Transcript|MAX_uc001xii.1_Missense_Mutation_p.D3V|MAX_uc001xij.1_Missense_Mutation_p.D3V|MAX_uc001xik.3_Missense_Mutation_p.D3V	NM_002382	NP_002373	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.	3					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTCATCGTTATCGCTCATTTC	0.667													A	65569050	T	A	65569050	3	1	107	1	0	0	0	0	1	0	0	0	9339	1435	50	5	834	5	MAX	14	65569050	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08		65569050	41780490	37	7201											
ISM2	145501	broad.mit.edu	37	14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:77942269C>T	uc001xtz.3	-	6	1459	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ISM2_uc001xua.3_3'UTR|ISM2_uc001xty.3_Missense_Mutation_p.R374H	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	462	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CAGGCGCTCGCGAGGGCCACT	0.672													T	77942269	C	T	77942269	3	4	107	1	0	0	0	0	1	0	0	0	7861	768	27	1	334	1	ISM2	14	77942269	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	12373219	77942269	29407271	38	7202											
ATG2B	55102	broad.mit.edu	37	14	96752258	96752258	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:96752258A>C	uc001yfi.3	-	41	6436	c.6071T>G	c.(6070-6072)gTg>gGg	p.V2024G		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	2024										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCACCAGTCACCCCTCTGCT	0.582													C	96752258	A	C	96752258	3	2	107	1	0	0	0	0	1	0	0	0	1094	159	6	5	169	5	ATG2B	14	96752258	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08	18809989	96752258	10597282	39	7203											
C15orf2	23742	broad.mit.edu	37	15	24921107	24921107	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:24921107C>T	uc001ywo.3	+	0	567	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	31					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TGTCCCGGGACGCCTCCCCGC	0.697													T	24921107	C	T	24921107	2	4	107	1	0	0	0	0	0	0	0	1	1784	535	19	1		1	C15orf2	15	24921107	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		24921107	77610285	40	7204											
OCA2	4948	broad.mit.edu	37	15	28273201	28273201	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:28273201G>A	uc001zbh.4	-	3	441	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	OCA2_uc010ayv.3_Missense_Mutation_p.R111W	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	111					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGTATGCACCGTGACCTGGAA	0.488									Oculocutaneous Albinism				A	28273201	G	A	28273201	3	1	107	1	0	0	0	0	1	0	0	0	10815	1144	40	1	2269	1	OCA2	15	28273201	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	3352094	28273201	74258191	41	7205											
WDR76	79968	broad.mit.edu	37	15	44150913	44150913	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:44150913G>A	uc001zti.2	+	10	1573	c.1454G>A	c.(1453-1455)aGt>aAt	p.S485N	WDR76_uc021skg.1_Missense_Mutation_p.S421N	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN	Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.	485										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TCCAGGAGAAGTCAGCCTTTG	0.403													A	44150913	G	A	44150913	3	1	107	1	0	0	0	0	1	0	0	0	17323	1029	36	3	1496	3	WDR76	15	44150913	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	15877712	44150913	58380479	42	7206											
ADAMTS7	11173	broad.mit.edu	37	15	79067005	79067005	+	Missense_Mutation	SNP	T	T	C	rs151217691		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:79067005T>C	uc002bej.4	-	11	2048	c.1837A>G	c.(1837-1839)Aag>Gag	p.K613E	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.K613E	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	613	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K613E(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCTGGCCCTTGTAGAGCATA	0.642													C	79067005	T	C	79067005	3	2	107	1	0	0	0	0	1	0	0	0	271	1821	63	4	3275	4	ADAMTS7	15	79067005	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08	34916092	79067005	23464387	43	7207											
SSTR5	6755	broad.mit.edu	37	16	1129345	1129345	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:1129345G>A	uc021taf.1	+	1	548	c.477G>A	c.(475-477)gcG>gcA	p.A159A	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.A159A	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	159					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCAAGCTGGCGAGCGCCGCGG	0.706													A	1129345	G	A	1129345	2	1	107	1	0	0	0	0	0	0	0	1	15200	1045	37	2		2	SSTR5	16	1129345	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08		1129345	89225408	44	7208											
MAPK8IP3	23162	broad.mit.edu	37	16	1814345	1814345	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:1814345A>G	uc010uvl.2	+	18	2285	c.2165A>G	c.(2164-2166)aAt>aGt	p.N722S	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.N721S|MAPK8IP3_uc002cml.3_Missense_Mutation_p.N711S|MAPK8IP3_uc021tah.1_Missense_Mutation_p.N715S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	721					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGAGGCCCAATGAGGACGAC	0.706													G	1814345	A	G	1814345	3	3	107	1	0	0	0	0	1	0	0	0	9286	101	4	4	2252	4	MAPK8IP3	16	1814345	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08	685000	1814345	88540408	45	7209											
ADAMTS18	170692	broad.mit.edu	37	16	77356301	77356301	+	Missense_Mutation	SNP	C	C	T	rs142855321		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:77356301C>T	uc002ffc.4	-	13	2514	c.2095G>A	c.(2095-2097)Ggc>Agc	p.G699S	ADAMTS18_uc010chc.1_Missense_Mutation_p.G287S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G395S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	699	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G699S(2)		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						TTCACTTTGCCGGACATTGCA	0.403													T	77356301	C	T	77356301	3	4	107	1	0	0	0	0	1	0	0	0	263	652	23	2	1610	2	ADAMTS18	16	77356301	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	75541956	77356301	12998452	46	7210											
MYO15A	51168	broad.mit.edu	37	17	18022706	18022706	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:18022706G>A	uc021trm.1	+	0	811	c.592G>A	c.(592-594)Gcg>Acg	p.A198T	MYO15A_uc021trl.1_Missense_Mutation_p.A198T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	198	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGCATCTACGCGTCAGGCGA	0.701													A	18022706	G	A	18022706	3	1	107	1	0	0	0	0	1	0	0	0	10063	1087	38	1	594	1	MYO15A	17	18022706	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		18022706	63172504	47	7211											
FAM83G	644815	broad.mit.edu	37	17	18891569	18891569	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:18891569C>T	uc002guw.3	-	2	848	c.681G>A	c.(679-681)ggG>ggA	p.G227G	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	227										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCTTGAGGTGCCCCAGGTGCA	0.577													T	18891569	C	T	18891569	2	4	107	1	0	0	0	0	0	0	0	1	5639	726	26	3		3	FAM83G	17	18891569	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	868863	18891569	62303641	48	7212											
ACE	1636	broad.mit.edu	37	17	61560507	61560507	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:61560507G>A	uc002jau.2	+	8	1494	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.R304H|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	487	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCCCCTTCCCGCTACAACTTC	0.587													A	61560507	G	A	61560507	3	1	107	1	0	0	0	0	1	0	0	0	136	1087	38	1	1494	1	ACE	17	61560507	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	42668938	61560507	19634703	49	7213											
SOX9	6662	broad.mit.edu	37	17	70117873	70117873	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:70117873T>C	uc002jiw.3	+	0	713	c.341T>C	c.(340-342)gTg>gCg	p.V114A	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	114					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCCTTCATGGTGTGGGCGCAG	0.657													C	70117873	T	C	70117873	3	2	107	1	0	0	0	0	1	0	0	0	14958	1696	59	4	343	4	SOX9	17	70117873	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08	8557366	70117873	11077337	50	7214											
CSNK1D	1453	broad.mit.edu	37	17	80213441	80213441	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:80213441G>A	uc002kej.3	-	2	537	c.200C>T	c.(199-201)aCc>aTc	p.T67I	CSNK1D_uc002kei.3_Missense_Mutation_p.T67I|CSNK1D_uc010wvj.2_5'UTR|CSNK1D_uc002keh.3_5'Flank|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	67	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CCATCTGATGGTGGGGATGCC	0.572													A	80213441	G	A	80213441	3	1	107	1	0	0	0	0	1	0	0	0	3952	1261	44	3	1112	3	CSNK1D	17	80213441	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	10095568	80213441	981769	51	7215											
ANKRD30B	374860	broad.mit.edu	37	18	14803789	14803789	+	Silent	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:14803789A>G	uc010dlo.2	+	23	2430	c.2250A>G	c.(2248-2250)caA>caG	p.Q750Q	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.Q750Q	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	835										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTACACATCAAAAAGAATTCG	0.323													G	14803789	A	G	14803789	2	3	107	1	0	0	0	0	0	0	0	1	659	11	1	4		4	ANKRD30B	18	14803789	Silent	SNP	A	TCGA-06-6699-01A-11D-1845-08		14803789	63273459	52	7216											
RBBP8	5932	broad.mit.edu	37	18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:20572852_20572853insA	uc002kua.3	+	10	1185_1186	c.1062_1063insA	c.(1060-1065)gggaaafs	p.G354fs	RBBP8_uc002ktw.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002kty.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktz.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktx.1_Frame_Shift_Ins_p.G354fs	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	354					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.K355E(3)|p.G354G(3)|p.K357fs*3(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination					A	20572853	-	A	20572852	7	5	107	1	0	1	1	0	0	0	0	0	13105	1161	41	0	1100	0	RBBP8	18	20572852	Frame_Shift_Ins	INS	-	TCGA-06-6699-01A-11D-1845-08	5769063	20572852	57504396	53	7217											
PIGN	23556	broad.mit.edu	37	18	59757728	59757728	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:59757728C>T	uc021ulb.1	-	20	2296	c.2264G>A	c.(2263-2265)gGt>gAt	p.G755D	PIGN_uc021ulc.1_Missense_Mutation_p.G381D|PIGN_uc021uld.1_Missense_Mutation_p.G381D	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	755					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACAGCAAACACCAGATTGTTG	0.343													T	59757728	C	T	59757728	3	4	107	1	0	0	0	0	1	0	0	0	11893	507	18	3	563	3	PIGN	18	59757728	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	39184876	59757728	18319520	54	7218											
KCNG2	26251	broad.mit.edu	37	18	77623839	77623839	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:77623839G>A	uc010xfl.2	+	0	172	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	58					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTGCGCGTGTGTGACGA	0.741													A	77623839	G	A	77623839	3	1	107	1	0	0	0	0	1	0	0	0	8028	1145	40	1	174	1	KCNG2	18	77623839	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	17866111	77623839	453409	55	7219											
C19orf35	374872	broad.mit.edu	37	19	2278816	2278816	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:2278816C>A	uc002lvn.2	-	2	479	c.379G>T	c.(379-381)Gat>Tat	p.D127Y	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	127										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		CTGTGCAGATCGCGGAGGGAG	0.692													A	2278816	C	A	2278816	3	1	107	1	0	0	0	0	1	0	0	0	1920	884	31	5	1050	5	C19orf35	19	2278816	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		2278816	56850167	56	7220											
CLEC4M	10332	broad.mit.edu	37	19	7833851	7833851	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:7833851G>A	uc010dvt.3	+	6	1295	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	CLEC4M_uc002mih.3_Missense_Mutation_p.A370T|CLEC4M_uc010xjw.2_Missense_Mutation_p.A326T|CLEC4M_uc010dvs.3_Missense_Mutation_p.A369T|CLEC4M_uc010xjx.2_Missense_Mutation_p.A342T|CLEC4M_uc002mhz.3_3'UTR|CLEC4M_uc002mic.3_3'UTR|CLEC4M_uc002mia.3_Missense_Mutation_p.A257T	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	393					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.P392L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAAAAAGCCCGCAGCCTGCTT	0.498													A	7833851	G	A	7833851	3	1	107	1	0	0	0	0	1	0	0	0	3518	1087	38	1	1224	1	CLEC4M	19	7833851	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	5555035	7833851	51295132	57	7221											
FBN3	84467	broad.mit.edu	37	19	8148157	8148157	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:8148157G>T	uc002mjf.3	-	55	7204	c.7187C>A	c.(7186-7188)cCg>cAg	p.P2396Q	FBN3_uc002mje.3_Missense_Mutation_p.P235Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2396	EGF-like 38; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGTAGCATCCGGTGTGTACCC	0.602													T	8148157	G	T	8148157	3	4	107	1	0	0	0	0	1	0	0	0	5704	1116	39	5	1274	5	FBN3	19	8148157	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	314306	8148157	50980826	58	7222											
MUC16	94025	broad.mit.edu	37	19	9056233	9056233	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:9056233C>T	uc002mkp.3	-	2	31417	c.31213G>A	c.(31213-31215)Gtt>Att	p.V10405I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10407	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						CCCAGCTCAACGCTCTCTGTC	0.483													T	9056233	C	T	9056233	3	4	107	1	0	0	0	0	1	0	0	0	9973	536	19	1	12638	1	MUC16	19	9056233	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	908076	9056233	50072750	59	7223											
OLFM2	93145	broad.mit.edu	37	19	9965148	9965148	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:9965148G>A	uc002mmp.3	-	5	1107	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	360	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGTCCCAGGACCGCATGAC	0.657													A	9965148	G	A	9965148	3	1	107	1	0	0	0	0	1	0	0	0	10853	1174	41	3	289	3	OLFM2	19	9965148	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	908915	9965148	49163835	60	7224											
CYP4F11	57834	broad.mit.edu	37	19	16025652	16025652	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:16025652C>T	uc002nbu.2	-	9	1205	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	CYP4F11_uc010eab.1_Missense_Mutation_p.R390Q|CYP4F11_uc002nbt.2_Missense_Mutation_p.R390Q	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	390					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGATGCAACCGCAGGCTCTC	0.592													T	16025652	C	T	16025652	3	4	107	1	0	0	0	0	1	0	0	0	4186	652	23	2	421	2	CYP4F11	19	16025652	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	6060504	16025652	43103331	61	7225											
ZNF302	55900	broad.mit.edu	37	19	35175342	35175342	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:35175342C>G	uc002nvr.1	+	5	795	c.532C>G	c.(532-534)Ctt>Gtt	p.L178V	ZNF302_uc002nvp.1_Missense_Mutation_p.L134V|ZNF302_uc002nvq.1_Missense_Mutation_p.L134V|ZNF302_uc002nvs.1_Missense_Mutation_p.L134V	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AAAGTCTACTCTTTCTGAACC	0.274													G	35175342	C	G	35175342	3	3	107	1	0	0	0	0	1	0	0	0	17829	913	32	5	414	5	ZNF302	19	35175342	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	19149690	35175342	23953641	62	7226											
SHKBP1	92799	broad.mit.edu	37	19	41083170	41083170	+	Silent	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:41083170C>A	uc002oob.3	+	1	169	c.120C>A	c.(118-120)atC>atA	p.I40I	SHKBP1_uc002ooc.3_Silent_p.I40I|SHKBP1_uc010xvl.1_5'UTR|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'Flank|SHKBP1_uc010xvn.2_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	40	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCACCTGGATCCCAGACTCCT	0.617													A	41083170	C	A	41083170	2	1	107	1	0	0	0	0	0	0	0	1	14284	845	30	5		5	SHKBP1	19	41083170	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	5907828	41083170	18045813	63	7227											
SBK2	646643	broad.mit.edu	37	19	56047476	56047476	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:56047476G>A	uc010ygc.2	-	1	201	c.186C>T	c.(184-186)taC>taT	p.Y62Y		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	62	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCACTTCCTCGTAGAGCTCGT	0.652													A	56047476	G	A	56047476	2	1	107	1	0	0	0	0	0	0	0	1	13861	1140	40	1		1	SBK2	19	56047476	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08	14964306	56047476	3081507	64	7228											
ADAM33	80332	broad.mit.edu	37	20	3655285	3655285	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:3655285G>A	uc002wit.3	-	5	553	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	ADAM33_uc002wir.1_Missense_Mutation_p.R156W|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.R156W|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R168W|ADAM33_uc010zqh.1_Missense_Mutation_p.R156W	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	156					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P155P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTGGAGCCCCGGGGTGGCCAG	0.607													A	3655285	G	A	3655285	3	1	107	1	0	0	0	0	1	0	0	0	250	1115	39	2	2043	2	ADAM33	20	3655285	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		3655285	59370235	65	7229											
CHGB	1114	broad.mit.edu	37	20	5904558	5904558	+	Missense_Mutation	SNP	G	G	A	rs148235020		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:5904558G>A	uc002wmg.3	+	3	2074	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T	CHGB_uc010zqz.2_Missense_Mutation_p.A273T	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	590						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAAACCTCGCCAGGGTCCC	0.498													A	5904558	G	A	5904558	3	1	107	1	0	0	0	0	1	0	0	0	3339	1087	38	1	1782	1	CHGB	20	5904558	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	2249273	5904558	57120962	66	7230											
PAK7	57144	broad.mit.edu	37	20	9543605	9543605	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:9543605C>T	uc002wnl.2	-	6	2094	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	PAK7_uc002wnk.2_Missense_Mutation_p.D517N|PAK7_uc002wnj.2_Missense_Mutation_p.D517N|PAK7_uc010gby.1_Missense_Mutation_p.D517N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	517	Protein kinase.						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)			CAGAGCTCATCGCCGACAAGG	0.478													T	9543605	C	T	9543605	3	4	107	1	0	0	0	0	1	0	0	0	11405	884	31	2	630	2	PAK7	20	9543605	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	3639047	9543605	53481915	67	7231											
COL20A1	57642	broad.mit.edu	37	20	61959711	61959711	+	Silent	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:61959711C>T	uc011aau.2	+	33	3742	c.3642C>T	c.(3640-3642)caC>caT	p.H1214H	COL20A1_uc011aav.2_Silent_p.H1041H	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1214					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACTCCTTCCACGAGAACACCA	0.672													T	61959711	C	T	61959711	2	4	107	1	0	0	0	0	0	0	0	1	3679	535	19	1		1	COL20A1	20	61959711	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	52416106	61959711	1065809	68	7232											
CLDN14	23562	broad.mit.edu	37	21	37833779	37833779	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr21:37833779G>A	uc021wja.1	-	0	215	c.215C>T	c.(214-216)gCg>gTg	p.A72V	CLDN14_uc002yvn.1_Missense_Mutation_p.A72V|CLDN14_uc002yvo.1_Missense_Mutation_p.A72V|CLDN14_uc002yvk.1_Missense_Mutation_p.A72V|CLDN14_uc002yvl.1_Missense_Mutation_p.A72V|CLDN14_uc002yvm.1_Missense_Mutation_p.A72V	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	72					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TTGGGGCAGCGCCAGCAGGGA	0.632													A	37833779	G	A	37833779	3	1	107	1	0	0	0	0	1	0	0	0	3475	1087	38	1	508	1	CLDN14	21	37833779	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		37833779	10296116	69	7233											
YWHAH	7533	broad.mit.edu	37	22	32352631	32352631	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr22:32352631A>G	uc003alz.3	+	1	834	c.593A>G	c.(592-594)aAa>aGa	p.K198R	YWHAH_uc003ama.3_Missense_Mutation_p.K128R|YWHAH_uc010gwm.3_Missense_Mutation_p.K185R	NM_003405	NP_003396	Q04917	1433F_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA.	198					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CTCTTAGCCAAACAAGCCTTC	0.537													G	32352631	A	G	32352631	3	3	107	1	0	0	0	0	1	0	0	0	17501	14	1	4	599	4	YWHAH	22	32352631	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08		32352631	18951935	70	7234											
FRMPD4	9758	broad.mit.edu	37	X	12516825	12516825	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:12516825C>T	uc004cuz.2	+	1	574	c.68C>T	c.(67-69)cCg>cTg	p.P23L	FRMPD4_uc011mij.2_Missense_Mutation_p.P15L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	23					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAGGCTGGCCGCCTCCCTCG	0.512													T	12516825	C	T	12516825	3	4	107	1	0	0	0	0	1	0	0	0	6059	652	23	2	74	2	FRMPD4	23	12516825	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		12516825	142753735	71	7235											
CDKL5	6792	broad.mit.edu	37	X	18622187	18622187	+	Silent	SNP	C	C	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:18622187C>A	uc004cym.3	+	11	1396	c.1143C>A	c.(1141-1143)acC>acA	p.T381T	CDKL5_uc004cyn.3_Silent_p.T381T|CDKL5_uc022btn.1_Silent_p.T372T	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	381					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CACTGCACACCAAAACCTACC	0.507													A	18622187	C	A	18622187	2	1	107	1	0	0	0	0	0	0	0	1	3157	581	21	5		5	CDKL5	23	18622187	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	6105362	18622187	136648373	72	7236											
SYP	6855	broad.mit.edu	37	X	49048188	49048188	+	Silent	SNP	G	G	A			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:49048188G>A	uc004dmz.1	-	5	664	c.648C>T	c.(646-648)gtC>gtT	p.V216V	SYP_uc011mmz.1_Silent_p.V98V	NM_003179	NP_003170	P08247	SYPH_HUMAN	Homo sapiens synaptophysin (SYP), mRNA.	216	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				ACAGGTTGCCGACCCAGAGCA	0.677													A	49048188	G	A	49048188	2	1	107	1	0	0	0	0	0	0	0	1	15458	1045	37	2		2	SYP	23	49048188	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08	30426001	49048188	106222372	73	7237											
FOXP3	50943	broad.mit.edu	37	X	49112252	49112252	+	Missense_Mutation	SNP	G	G	A	rs2232369		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:49112252G>A	uc004dnf.4	-	6	847	c.659C>T	c.(658-660)gCg>gTg	p.A220V	FOXP3_uc011mnb.2_Missense_Mutation_p.A243V|FOXP3_uc011mnc.2_Missense_Mutation_p.A220V|FOXP3_uc004dne.4_Missense_Mutation_p.A185V|FOXP3_uc022bwa.1_Missense_Mutation_p.A170V	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.	220					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					AAGATGGTCCGCCTGGCAGTG	0.587													A	49112252	G	A	49112252	3	1	107	1	0	0	0	0	1	0	0	0	6028	1087	38	1	660	1	FOXP3	23	49112252	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	64064	49112252	106158308	74	7238											
TEX11	56159	broad.mit.edu	37	X	69825267	69825267	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:69825267G>T	uc004dyl.3	-	24	2258	c.2096C>A	c.(2095-2097)tCa>tAa	p.S699*	TEX11_uc004dyk.3_Nonsense_Mutation_p.S374*|TEX11_uc004dym.3_Nonsense_Mutation_p.S684*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	699							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAAAGCTGTTGAAGCTTTTCT	0.388													T	69825267	G	T	69825267	4	4	107	1	0	0	0	0	0	1	0	0	15771	1294	45	5	754	5	TEX11	23	69825267	Nonsense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	20713015	69825267	85445293	75	7239											
IL9R	3581	broad.mit.edu	37	X	155239824	155239824	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:155239824A>G	uc004fnv.1	+	8	1495	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	IL9R_uc004fnu.1_3'UTR	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	439	Poly-Asn.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.N439S(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcaacaacaacaAC	0.642													G	155239824	A	G	155239824	3	3	107	1	0	0	0	0	1	0	0	0	7708	43	2	4	1350	4	IL9R	23	155239824	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08	85414557	155239824	30736	76	7240											
ZBTB17	7709	broad.mit.edu	37	1	16268633	16268633	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:16268633T>C	uc001axl.4	-	15	2482	c.2243A>G	c.(2242-2244)cAg>cGg	p.Q748R	ZBTB17_uc010obs.2_Missense_Mutation_p.Q672R|ZBTB17_uc010obq.2_Missense_Mutation_p.Q666R|ZBTB17_uc010obr.2_Missense_Mutation_p.Q755R	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	748	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CGCGTCTGTCTGGAACATGAC	0.627													C	16268633	T	C	16268633	3	2	108	1	0	0	0	0	1	0	0	0	17524	1580	55	4	172	4	ZBTB17	1	16268633	Missense_Mutation	SNP	T	TCGA-06-6700-01A-12D-1845-08		16268633	232981988	1	7241											
WDR63	126820	broad.mit.edu	37	1	85595746	85595746	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:85595746G>A	uc001dkt.3	+	21	2674	c.2483G>A	c.(2482-2484)cGt>cAt	p.R828H	WDR63_uc009wcl.3_Missense_Mutation_p.R789H	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	828										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAAAAATTCGTGAGCAAGAA	0.363													A	85595746	G	A	85595746	3	1	108	1	0	0	0	0	1	0	0	0	17311	1145	40	1	2565	1	WDR63	1	85595746	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	69327113	85595746	163654875	2	7242											
NUP210L	91181	broad.mit.edu	37	1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:154062057C>T	uc001fdw.3	-	15	2273	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.R734Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423													T	154062057	C	T	154062057	3	4	108	1	0	0	0	0	1	0	0	0	10761	884	31	2	3565	2	NUP210L	1	154062057	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	68466311	154062057	95188564	3	7243											
TAGLN2	8407	broad.mit.edu	37	1	159889092	159889092	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:159889092A>G	uc001fun.1	-	3	503	c.430T>C	c.(430-432)Ttc>Ctc	p.F144L		NM_003564	NP_003555	P37802	TAGL2_HUMAN	Homo sapiens transgelin 2 (TAGLN2), mRNA.	144					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCCAGAGAAGAGCCCATCA	0.547													G	159889092	A	G	159889092	3	3	108	1	0	0	0	0	1	0	0	0	15536	72	3	4	177	4	TAGLN2	1	159889092	Missense_Mutation	SNP	A	TCGA-06-6700-01A-12D-1845-08	5827035	159889092	89361529	4	7244											
CD244	51744	broad.mit.edu	37	1	160811483	160811483	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:160811483C>G	uc009wtq.3	-	1	495	c.270G>C	c.(268-270)ttG>ttC	p.L90F	CD244_uc001fxa.3_Missense_Mutation_p.L90F|CD244_uc009wtr.3_Missense_Mutation_p.L90F|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	90	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGAGAAGACTCAAGTTCTTGA	0.448													G	160811483	C	G	160811483	3	3	108	1	0	0	0	0	1	0	0	0	2987	825	29	5	874	5	CD244	1	160811483	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	922391	160811483	88439138	5	7245											
HMCN1	83872	broad.mit.edu	37	1	186106708	186106708	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:186106708G>A	uc001grq.1	+	87	13890	c.13661G>A	c.(13660-13662)cGt>cAt	p.R4554H	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R123H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4554	TSP type-1 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						AAGAGGAGTCGTCTGTGCAAC	0.488													A	186106708	G	A	186106708	3	1	108	1	0	0	0	0	1	0	0	0	7220	1145	40	1	14011	1	HMCN1	1	186106708	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	25295225	186106708	63143913	6	7246											
IGFN1	91156	broad.mit.edu	37	1	201196177	201196177	+	Missense_Mutation	SNP	C	C	T	rs142381894		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:201196177C>T	uc001gwc.3	+	22	11084	c.10954C>T	c.(10954-10956)Cgc>Tgc	p.R3652C	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAAGAATGACCGCAGCCTGGA	0.672													T	201196177	C	T	201196177	3	4	108	1	0	0	0	0	1	0	0	0	7590	652	23	2	11040	2	IGFN1	1	201196177	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	15089469	201196177	48054444	7	7247											
C1orf150	148823	broad.mit.edu	37	1	247712512	247712512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:247712512C>T	uc001idf.3	+	0	166	c.19C>T	c.(19-21)Cga>Tga	p.R7*	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	7								p.R7R(2)|p.C127*(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15	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;0.0241)			TTATCTCCTGCGAAAACTCAG	0.468													T	247712512	C	T	247712512	4	4	108	1	0	0	0	0	0	1	0	0	2004	760	27	1	21	1	C1orf150	1	247712512	Nonsense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	46516335	247712512	1538109	8	7248											
OR2T12	127064	broad.mit.edu	37	1	248458330	248458330	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:248458330C>T	uc010pzj.2	-	0	551	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R184C(1)|p.R184S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACAAGCCAAACGCACCAACAC	0.552													T	248458330	C	T	248458330	3	4	108	1	0	0	0	0	1	0	0	0	11019	536	19	1	414	1	OR2T12	1	248458330	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	745818	248458330	792291	9	7249											
LOC285033	285033	broad.mit.edu	37	2	96906137	96906137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr2:96906137C>T	uc002svp.1	+	0	687	c.76C>T	c.(76-78)Cga>Tga	p.R26*	LOC285033_uc002svn.2_Non-coding_Transcript	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN	Homo sapiens uncharacterized LOC285033 (LOC285033), mRNA.	26																	TAATTTCTTCCGAATTCAAAA	0.408													T	96906137	C	T	96906137	4	4	108	1	0	0	0	0	0	1	0	0	8873	644	23	2	78	2	LOC285033	2	96906137	Nonsense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		96906137	146293236	10	7250											
CNTNAP5	129684	broad.mit.edu	37	2	125530374	125530374	+	Splice_Site	SNP	A	A	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr2:125530374A>T	uc010flu.3	+	17	2898	c.2534_splice	c.e17-2	p.S845_splice	CNTNAP5_uc002tno.3_Splice_Site_p.S844_splice	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	844	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCCGGTTTCAGCTCCTTCAG	0.458													T	125530374	A	T	125530374	5	4	108	1	0	0	0	0	0	0	1	0	3650	202	7	5	2595	5	CNTNAP5	2	125530374	Splice_Site	SNP	A	TCGA-06-6700-01A-12D-1845-08	28624237	125530374	117668999	11	7251											
ANKRD28	23243	broad.mit.edu	37	3	15712040	15712040	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:15712040C>T	uc003caj.1	-	27	3042	c.2899G>A	c.(2899-2901)Gct>Act	p.A967T	ANKRD28_uc003cai.1_Missense_Mutation_p.A813T|ANKRD28_uc011avz.1_Missense_Mutation_p.A813T|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011avy.1_Missense_Mutation_p.A47T	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	967						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTATTGGGAGCACAGGCCAAA	0.398													T	15712040	C	T	15712040	3	4	108	1	0	0	0	0	1	0	0	0	656	710	25	3	266	3	ANKRD28	3	15712040	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		15712040	182310390	12	7252											
OXNAD1	92106	broad.mit.edu	37	3	16343240	16343240	+	Silent	SNP	A	A	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:16343240A>G	uc011awb.2	+	5	714	c.594A>G	c.(592-594)ggA>ggG	p.G198G	OXNAD1_uc010her.2_Non-coding_Transcript|OXNAD1_uc003caw.3_Silent_p.G180G|OXNAD1_uc003cax.3_Silent_p.G180G	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	Homo sapiens oxidoreductase NAD-binding domain containing 1 (OXNAD1), mRNA.	180							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GAGGAGTCGGAATTAACCCTC	0.483													G	16343240	A	G	16343240	2	3	108	1	0	0	0	0	0	0	0	1	11333	233	9	4		4	OXNAD1	3	16343240	Silent	SNP	A	TCGA-06-6700-01A-12D-1845-08	631200	16343240	181679190	13	7253											
ZNF619	285267	broad.mit.edu	37	3	40529457	40529457	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:40529457G>A	uc011azb.2	+	5	1883	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R	ZNF619_uc011aza.2_Missense_Mutation_p.G428R|ZNF619_uc011azc.2_Missense_Mutation_p.G486R|ZNF619_uc011azd.2_Missense_Mutation_p.G442R|ZNF619_uc003ckj.3_Missense_Mutation_p.G470R|ZNF619_uc021wwh.1_Missense_Mutation_p.G477R	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	526					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACTCATCAATGGAACAGGGCT	0.537													A	40529457	G	A	40529457	3	1	108	1	0	0	0	0	1	0	0	0	18040	1349	47	3	1616	3	ZNF619	3	40529457	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	24186217	40529457	157492973	14	7254											
RBM15B	29890	broad.mit.edu	37	3	51430156	51430156	+	Silent	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:51430156G>A	uc003dbd.3	+	0	1458	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	442	RRM 3.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCGCTTTGGGAGCATTCGGA	0.572													A	51430156	G	A	51430156	2	1	108	1	0	0	0	0	0	0	0	1	13117	1161	41	3		3	RBM15B	3	51430156	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08	10900699	51430156	146592274	15	7255											
UGT8	7368	broad.mit.edu	37	4	115544445	115544445	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr4:115544445G>C	uc003ibs.2	+	1	931	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	UGT8_uc003ibt.2_Missense_Mutation_p.V137L|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	137					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCTGCTGCTGGTGGACCCTAA	0.438													C	115544445	G	C	115544445	3	2	108	1	0	0	0	0	1	0	0	0	16962	1261	44	5	411	5	UGT8	4	115544445	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		115544445	75609831	16	7256											
ODZ3	55714	broad.mit.edu	37	4	183714528	183714528	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr4:183714528C>T	uc003ivd.1	+	24	6778	c.6703C>T	c.(6703-6705)Cgt>Tgt	p.R2235C		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2235					signal transduction	integral to membrane		p.R2235C(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCTGGGAAGGCGTGTTTCTAG	0.453													T	183714528	C	T	183714528	3	4	108	1	0	0	0	0	1	0	0	0	10836	768	27	1	6801	1	ODZ3	4	183714528	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	68170083	183714528	7439748	17	7257											
MARCH6	10299	broad.mit.edu	37	5	10394249	10394249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr5:10394249G>A	uc003jet.1	+	7	1005	c.822G>A	c.(820-822)tgG>tgA	p.W274*	MARCH6_uc011cmu.1_Nonsense_Mutation_p.W226*|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Nonsense_Mutation_p.W169*	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	274					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGCTTACATGGGAAAGAGTAA	0.303													A	10394249	G	A	10394249	4	1	108	1	0	0	0	0	0	1	0	0	9305	1241	43	3	852	3	MARCH6	5	10394249	Nonsense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		10394249	170521011	18	7258											
SLC26A2	1836	broad.mit.edu	37	5	149360771	149360771	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr5:149360771A>G	uc003lrh.3	+	2	1883	c.1615A>G	c.(1615-1617)Ata>Gta	p.I539V		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	539						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTGTTTTTCTATATTTTGTGT	0.423													G	149360771	A	G	149360771	3	3	108	1	0	0	0	0	1	0	0	0	14517	449	16	4	1621	4	SLC26A2	5	149360771	Missense_Mutation	SNP	A	TCGA-06-6700-01A-12D-1845-08	138966522	149360771	31554489	19	7259											
VARS	7407	broad.mit.edu	37	6	31746760	31746760	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:31746760T>C	uc003nxe.3	-	28	4133	c.3710A>G	c.(3709-3711)gAg>gGg	p.E1237G	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Missense_Mutation_p.E174G	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1237					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TTCATCTGCCTCCTGGACTTC	0.637													C	31746760	T	C	31746760	3	2	108	1	0	0	0	0	1	0	0	0	17120	1551	54	4	92	4	VARS	6	31746760	Missense_Mutation	SNP	T	TCGA-06-6700-01A-12D-1845-08		31746760	139368307	20	7260											
SLC22A7	10864	broad.mit.edu	37	6	43269393	43269393	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:43269393C>T	uc021yzt.1	+	6	1123	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	SLC22A7_uc010jyl.1_Missense_Mutation_p.R343W|SLC22A7_uc003ous.3_Missense_Mutation_p.R340W|SLC22A7_uc003out.3_Missense_Mutation_p.R340W	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	342						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCGCACACCACGGCTCCGACA	0.617													T	43269393	C	T	43269393	3	4	108	1	0	0	0	0	1	0	0	0	14459	527	19	1	1046	1	SLC22A7	6	43269393	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	11522633	43269393	127845674	21	7261											
GFRAL	389400	broad.mit.edu	37	6	55264168	55264168	+	Silent	SNP	A	A	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:55264168A>T	uc003pcm.1	+	8	1135	c.1049_splice	c.e8-1	p.G350_splice		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	350						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTTTCTAGGAGAAGTAATCT	0.313													T	55264168	A	T	55264168	2	4	108	1	0	0	0	0	0	0	0	1	6351	318	11	5		5	GFRAL	6	55264168	Silent	SNP	A	TCGA-06-6700-01A-12D-1845-08	11994775	55264168	115850899	22	7262											
IMPG1	3617	broad.mit.edu	37	6	76731930	76731930	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:76731930G>A	uc003pik.1	-	5	699	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	190					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGAGACGTTGGCAACATCTGT	0.378													A	76731930	G	A	76731930	3	1	108	1	0	0	0	0	1	0	0	0	7728	1203	42	3	1872	3	IMPG1	6	76731930	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	21467762	76731930	94383137	23	7263											
SLC22A3	6581	broad.mit.edu	37	6	160828117	160828117	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:160828117G>A	uc003qti.3	+	2	605	c.578G>A	c.(577-579)gGc>gAc	p.G193D	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	193						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTTGGTGTTGGCGTCACTGGG	0.473													A	160828117	G	A	160828117	3	1	108	1	0	0	0	0	1	0	0	0	14455	1203	42	3	588	3	SLC22A3	6	160828117	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	84096187	160828117	10286950	24	7264											
EGFR	1956	broad.mit.edu	37	7	55268881	55268881	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:55268881G>A	uc003tqk.3	+	25	3193	c.2947_splice	c.e25-1	p.G983_splice	EGFR_uc022adm.1_Splice_Site_p.G983_splice|EGFR_uc010kzg.2_Splice_Site_p.G938_splice|EGFR_uc022adn.1_Splice_Site_p.G938_splice|EGFR_uc011kco.2_Splice_Site_p.G930_splice	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	983					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTGCACCAGGGGGATGAAAG	0.512		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55268881	G	A	55268881	3	1	108	1	0	0	0	0	1	0	0	0	4967	1246	43	3	3309	3	EGFR	7	55268881	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		55268881	103869782	25	7265											
PCLO	27445	broad.mit.edu	37	7	82595087	82595087	+	Silent	SNP	T	T	C			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:82595087T>C	uc003uhx.2	-	4	4306	c.4017_splice	c.e4+1	p.T1339_splice	PCLO_uc003uhv.2_Splice_Site_p.T1339_splice	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1270					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						TTTAACTTACTGTTTTTTCTT	0.338													C	82595087	T	C	82595087	2	2	108	1	0	0	0	0	0	0	0	1	11583	1594	55	4		4	PCLO	7	82595087	Silent	SNP	T	TCGA-06-6700-01A-12D-1845-08	27326206	82595087	76543576	26	7266											
AKR1B10	57016	broad.mit.edu	37	7	134222353	134222353	+	Silent	SNP	C	C	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:134222353C>G	uc003vrr.3	+	6	1001	c.681C>G	c.(679-681)tcC>tcG	p.S227S		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	227					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AAGACCCTTCCCTGCTGGAGG	0.463													G	134222353	C	G	134222353	2	3	108	1	0	0	0	0	0	0	0	1	467	610	22	5		5	AKR1B10	7	134222353	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08	51627266	134222353	24916310	27	7267											
EPHA1	2041	broad.mit.edu	37	7	143097029	143097029	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:143097029C>T	uc003wcz.3	-	3	637	c.550G>A	c.(550-552)Gct>Act	p.A184T		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	184						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGTGGAAAGCGAGGTAGAGG	0.617													T	143097029	C	T	143097029	3	4	108	1	0	0	0	0	1	0	0	0	5165	768	27	1	2440	1	EPHA1	7	143097029	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	8874676	143097029	16041634	28	7268											
NCAPG2	54892	broad.mit.edu	37	7	158447341	158447341	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:158447341C>A	uc011kwe.1	-	21	2837	c.2692G>T	c.(2692-2694)Gac>Tac	p.D898Y	NCAPG2_uc010lqu.1_Missense_Mutation_p.D690Y|NCAPG2_uc003wnx.1_Missense_Mutation_p.D898Y|NCAPG2_uc003wnv.1_Missense_Mutation_p.D898Y|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.D399Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.D341Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	898					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AACTGATGGTCACCAAGGCCT	0.428													A	158447341	C	A	158447341	3	1	108	1	0	0	0	0	1	0	0	0	10208	826	29	5	767	5	NCAPG2	7	158447341	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	15350312	158447341	691322	29	7269											
NKAIN3	286183	broad.mit.edu	37	8	63659690	63659691	+	Splice_Site	INS	-	-	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr8:63659690_63659691insA	uc010lyq.1	+	4	603	c.471_splice	c.e4+2	p.S157_splice		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	157						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTACTCTCTGTAAGTGTCACTT	0.441													A	63659691	-	A	63659690	8	5	108	1	0	1	1	0	0	0	1	0	10437	1652	57	0	487	0	NKAIN3	8	63659690	Splice_Site	INS	-	TCGA-06-6700-01A-12D-1845-08		63659690	82704332	30	7270											
OR10A6	390093	broad.mit.edu	37	11	7949287	7949287	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:7949287C>T	uc010rbh.2	-	0	923	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAAAACCACTCGCCTTCGCCA	0.363													T	7949287	C	T	7949287	3	4	108	1	0	0	0	0	1	0	0	0	10894	884	31	2	24	2	OR10A6	11	7949287	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		7949287	127057229	31	7271											
AMBRA1	55626	broad.mit.edu	37	11	46439460	46439461	+	Splice_Site	INS	-	-	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:46439460_46439461insA	uc001ncv.2	-	17	3439	c.3125_splice	c.e17+1	p.E1042_splice	AMBRA1_uc010rgt.1_Splice_Site_p.E605_splice|AMBRA1_uc009ylc.1_Splice_Site_p.E1010_splice|AMBRA1_uc001ncu.1_Splice_Site_p.E949_splice|AMBRA1_uc010rgu.1_Splice_Site_p.E1039_splice|AMBRA1_uc001ncw.2_Splice_Site_p.E920_splice|AMBRA1_uc001ncx.2_Splice_Site_p.E979_splice	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1039					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TTAAGCCACTTACTCTGGTCGG	0.525													A	46439461	-	A	46439460	8	5	108	1	0	1	1	0	0	0	1	0	565	1769	61	0		0	AMBRA1	11	46439460	Splice_Site	INS	-	TCGA-06-6700-01A-12D-1845-08	38490173	46439460	88567056	32	7272											
OR5A1	219982	broad.mit.edu	37	11	59211010	59211010	+	Silent	SNP	C	C	T	rs139346783	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:59211010C>T	uc001nnx.1	+	0	369	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTATGGCATACGACCGATATG	0.542													T	59211010	C	T	59211010	2	4	108	1	0	0	0	0	0	0	0	1	11139	547	19	1		1	OR5A1	11	59211010	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08	12771550	59211010	75795506	33	7273											
STX3	6809	broad.mit.edu	37	11	59564776	59564776	+	Silent	SNP	G	G	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:59564776G>T	uc001nog.3	+	9	1354	c.807G>T	c.(805-807)gtG>gtT	p.V269V	STX3_uc010rkx.2_Intron|STX3_uc010rky.2_Intron|STX3_uc009ymt.1_Silent_p.V135V	NM_004177	NP_004168	Q13277	STX3_HUMAN	Homo sapiens syntaxin 3 (STX3), transcript variant 1, mRNA.	269					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						TTATCATTGTGCTAGTAGTTG	0.363													T	59564776	G	T	59564776	2	4	108	1	0	0	0	0	0	0	0	1	15345	1306	46	5		5	STX3	11	59564776	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08	353766	59564776	75441740	34	7274											
SLC3A2	6520	broad.mit.edu	37	11	62652817	62652817	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:62652817G>T	uc001nwd.3	+	8	1548	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	SLC3A2_uc001nwc.3_Missense_Mutation_p.W431C|SLC3A2_uc001nwf.3_Missense_Mutation_p.W368C|SLC3A2_uc001nwg.3_Missense_Mutation_p.W329C	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	430					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGCTGGTGCAGCTGGA	0.517													T	62652817	G	T	62652817	3	4	108	1	0	0	0	0	1	0	0	0	14627	1270	44	5	1424	5	SLC3A2	11	62652817	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	3088041	62652817	72353699	35	7275											
MFAP5	8076	broad.mit.edu	37	12	8813465	8813465	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:8813465G>A	uc001qut.1	-	2	301	c.88C>T	c.(88-90)Cga>Tga	p.R30*	MFAP5_uc001qus.2_Nonsense_Mutation_p.R30*|MFAP5_uc009zge.1_Nonsense_Mutation_p.R30*	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	30						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					CTACCTCCTCGTTGACTATTG	0.438													A	8813465	G	A	8813465	4	1	108	1	0	0	0	0	0	1	0	0	9518	1153	40	1	465	1	MFAP5	12	8813465	Nonsense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		8813465	125038430	36	7276											
CD63	967	broad.mit.edu	37	12	56120552	56120552	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:56120552G>A	uc001shn.3	-	4	543	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CD63_uc009znz.3_Missense_Mutation_p.R97W|CD63_uc001sho.3_Missense_Mutation_p.R120W	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	120					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		p.R120W(2)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATCTGCTGCCGGAAGTTGTTA	0.557													A	56120552	G	A	56120552	3	1	108	1	0	0	0	0	1	0	0	0	3029	1115	39	2	374	2	CD63	12	56120552	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	47307087	56120552	77731343	37	7277											
TMEM132B	114795	broad.mit.edu	37	12	126138636	126138636	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:126138636C>T	uc001uhe.1	+	8	2625	c.2617C>T	c.(2617-2619)Ccc>Tcc	p.P873S	TMEM132B_uc001uhf.1_Missense_Mutation_p.P385S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	873						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACAAGCTTCCCCACTCAAGG	0.507													T	126138636	C	T	126138636	3	4	108	1	0	0	0	0	1	0	0	0	16043	623	22	3	2651	3	TMEM132B	12	126138636	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	70018084	126138636	7713259	38	7278											
EP400	57634	broad.mit.edu	37	12	132514624	132514624	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:132514624A>G	uc001ujn.3	+	28	5827	c.5675A>G	c.(5674-5676)gAc>gGc	p.D1892G	EP400_uc021rgq.1_Missense_Mutation_p.D1891G|EP400_uc001ujm.3_Missense_Mutation_p.D1811G|SNORA49_uc001ujo.3_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1928					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTTATGTTGGACATTTTAGAG	0.413													G	132514624	A	G	132514624	3	3	108	1	0	0	0	0	1	0	0	0	5149	275	10	4	5782	4	EP400	12	132514624	Missense_Mutation	SNP	A	TCGA-06-6700-01A-12D-1845-08	6375988	132514624	1337271	39	7279											
FLT1	2321	broad.mit.edu	37	13	28896953	28896953	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:28896953C>T	uc001usb.3	-	20	3212	c.2927G>A	c.(2926-2928)aGt>aAt	p.S976N	FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.S101N|FLT1_uc001usa.3_Missense_Mutation_p.S194N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	976	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			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)	ATCACTCAGACTTTTATCTTC	0.438													T	28896953	C	T	28896953	3	4	108	1	0	0	0	0	1	0	0	0	5941	565	20	3	1129	3	FLT1	13	28896953	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		28896953	86272925	40	7280											
PCCA	5095	broad.mit.edu	37	13	100915068	100915068	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:100915068C>T	uc001voo.3	+	9	908	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	PCCA_uc010aga.3_Missense_Mutation_p.R242C|PCCA_uc010tiz.2_Missense_Mutation_p.R268C	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	268	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.R268H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATAATCCTCGTCATATAGA	0.279													T	100915068	C	T	100915068	3	4	108	1	0	0	0	0	1	0	0	0	11504	884	31	2	840	2	PCCA	13	100915068	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	72018115	100915068	14254810	41	7281											
GRTP1	79774	broad.mit.edu	37	13	114009782	114009782	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:114009782G>A	uc010tkc.2	-	2	293	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	GRTP1_uc001vtn.3_Missense_Mutation_p.R66W|GRTP1_uc010tkb.2_5'UTR|GRTP1_uc010agv.1_Non-coding_Transcript	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	66						intracellular	Rab GTPase activator activity	p.R66W(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACCCCTTTCCGGACATAGCGC	0.657													A	114009782	G	A	114009782	3	1	108	1	0	0	0	0	1	0	0	0	6810	1115	39	2	838	2	GRTP1	13	114009782	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	13094714	114009782	1160096	42	7282											
CMA1	1215	broad.mit.edu	37	14	24976583	24976583	+	Missense_Mutation	SNP	G	G	A	rs13306251	by1000genomes	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr14:24976583G>A	uc001wpp.1	-	1	218	c.188C>T	c.(187-189)aCg>aTg	p.T63M	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	63	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGAGCAGCCGTCAGCACAAA	0.488													A	24976583	G	A	24976583	3	1	108	1	0	0	0	0	1	0	0	0	3574	1145	40	1	571	1	CMA1	14	24976583	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		24976583	82372957	43	7283											
GABRA5	2558	broad.mit.edu	37	15	27193304	27193304	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr15:27193304G>A	uc001zbd.2	+	10	1845	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	GABRA5_uc021sgi.1_Missense_Mutation_p.G438D|GABRA5_uc001zbe.1_Non-coding_Transcript	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	438					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			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)	GTCTTGTTCGGCACTTTCAAC	0.438													A	27193304	G	A	27193304	3	1	108	1	0	0	0	0	1	0	0	0	6164	1203	42	3	1347	3	GABRA5	15	27193304	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		27193304	75338088	44	7284											
PCSK6	5046	broad.mit.edu	37	15	101971636	101971636	+	Silent	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr15:101971636C>T	uc002bxa.2	-	4	857	c.543G>A	c.(541-543)tcG>tcA	p.S181S	PCSK6_uc010bpd.3_Silent_p.S52S|PCSK6_uc002bwy.3_Silent_p.S181S|PCSK6_uc010bpe.3_Silent_p.S178S|PCSK6_uc002bxb.2_Silent_p.S181S|PCSK6_uc002bxc.1_Silent_p.S181S|PCSK6_uc002bxd.1_Silent_p.S181S|PCSK6_uc002bxe.3_Silent_p.S181S|PCSK6_uc002bxg.1_Silent_p.S181S	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	182	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.R180W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATTCATTTCCGACCGGCAGC	0.532													T	101971636	C	T	101971636	2	4	108	1	0	0	0	0	0	0	0	1	11604	639	23	2		2	PCSK6	15	101971636	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08	74778332	101971636	559756	45	7285											
EDC4	23644	broad.mit.edu	37	16	67917522	67917522	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr16:67917522G>A	uc002eur.3	+	27	4140	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	EDC4_uc010cer.3_Missense_Mutation_p.D920N|EDC4_uc002eus.3_Missense_Mutation_p.D1031N|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	1301					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGAAACTGTGGACCCAGCCCA	0.547											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	67917522	G	A	67917522	3	1	108	1	0	0	0	0	1	0	0	0	4908	1174	41	3	4011	3	EDC4	16	67917522	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		67917522	22437231	46	7286											
PDPR	55066	broad.mit.edu	37	16	70172800	70172800	+	Splice_Site	SNP	A	A	G			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr16:70172800A>G	uc002eyf.1	+	11	2148	c.1191_splice	c.e11-2	p.K397_splice	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Splice_Site_p.K297_splice|PDPR_uc002eyg.1_Splice_Site_p.K125_splice	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	397					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGTCTATATAGGTACCTTGC	0.443													G	70172800	A	G	70172800	5	3	108	1	0	0	0	0	0	0	1	0	11689	434	15	4	1223	4	PDPR	16	70172800	Splice_Site	SNP	A	TCGA-06-6700-01A-12D-1845-08	2255278	70172800	20181953	47	7287											
PIK3R5	23533	broad.mit.edu	37	17	8784974	8784974	+	Silent	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:8784974G>A	uc002glt.3	-	16	2422	c.2355C>T	c.(2353-2355)aaC>aaT	p.N785N	PIK3R5_uc010vuz.2_Silent_p.N785N|PIK3R5_uc021tqc.1_Silent_p.N399N|PIK3R5_uc010cob.2_Silent_p.N399N|PIK3R5_uc010coa.2_Silent_p.N399N|PIK3R5_uc002glu.4_Silent_p.N399N	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	785					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGGATTTGGAGTTCTGCCTTT	0.547													A	8784974	G	A	8784974	2	1	108	1	0	0	0	0	0	0	0	1	11922	1020	36	3		3	PIK3R5	17	8784974	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08		8784974	72410236	48	7288											
SPACA3	124912	broad.mit.edu	37	17	31322667	31322667	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:31322667G>A	uc002hhs.1	+	1	350	c.275G>A	c.(274-276)cGt>cAt	p.R92H	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	92					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.R92H(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTCTACGGTCGTTGTGAACTG	0.617													A	31322667	G	A	31322667	3	1	108	1	0	0	0	0	1	0	0	0	14973	1145	40	1	281	1	SPACA3	17	31322667	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	22537693	31322667	49872543	49	7289											
C17orf57	124989	broad.mit.edu	37	17	45490276	45490276	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:45490276G>A	uc002iln.3	+	21	2847	c.2416G>A	c.(2416-2418)Gtc>Atc	p.V806I	C17orf57_uc002ilm.3_Missense_Mutation_p.V710I	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	806	EF-hand 5.						calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						CTGTTGTAACGTCAGTGGTGA	0.353													A	45490276	G	A	45490276	3	1	108	1	0	0	0	0	1	0	0	0	1865	1145	40	1	2490	1	C17orf57	17	45490276	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	14167609	45490276	35704934	50	7290											
SPAG9	9043	broad.mit.edu	37	17	49071128	49071128	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:49071128G>A	uc002itc.3	-	18	2604	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	SPAG9_uc002itd.3_Missense_Mutation_p.P789S|SPAG9_uc002itb.3_Missense_Mutation_p.P785S|SPAG9_uc002itf.3_Missense_Mutation_p.P620S|SPAG9_uc002ita.3_Missense_Mutation_p.P642S|SPAG9_uc002ite.3_Missense_Mutation_p.P629S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	799					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCTTACCTGGCACACTTGCA	0.483													A	49071128	G	A	49071128	3	1	108	1	0	0	0	0	1	0	0	0	14985	1203	42	3	1618	3	SPAG9	17	49071128	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	3580852	49071128	32124082	51	7291											
C18orf34	374864	broad.mit.edu	37	18	30825371	30825371	+	Silent	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:30825371G>A	uc010xbr.1	-	13	1573	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y	C18orf34_uc010dme.1_5'UTR|C18orf34_uc002kxn.2_Silent_p.Y477Y|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.Y477Y|C18orf34_uc002kxp.3_Silent_p.Y477Y	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	477										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TTTCAGATTCGTATTTTGATT	0.259													A	30825371	G	A	30825371	2	1	108	1	0	0	0	0	0	0	0	1	1902	1140	40	1		1	C18orf34	18	30825371	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08		30825371	47251877	52	7292											
CELF4	56853	broad.mit.edu	37	18	35145598	35145598	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:35145598T>A	uc002lae.2	-	0	403	c.7A>T	c.(7-9)Ata>Tta	p.I3L	CELF4_uc021uix.1_Missense_Mutation_p.I3L|CELF4_uc021uiy.1_Missense_Mutation_p.I3L|CELF4_uc002lag.2_Missense_Mutation_p.I3L|CELF4_uc002laf.2_5'UTR|CELF4_uc002lai.2_5'UTR	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	3	Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCCATCTTTATATACATAGAG	0.537													A	35145598	T	A	35145598	3	1	108	1	0	0	0	0	1	0	0	0	3218	1406	49	5	1501	5	CELF4	18	35145598	Missense_Mutation	SNP	T	TCGA-06-6700-01A-12D-1845-08	4320227	35145598	42931650	53	7293											
SERPINB3	6318	broad.mit.edu	37	18	61306946	61306946	+	Silent	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:61306946G>A	uc002ljf.3	-	5	620	c.534C>T	c.(532-534)aaC>aaT	p.N178N	SERPINB3_uc002lje.3_Silent_p.N178N|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	178					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AATAGATTGCGTTCACAAGAA	0.318													A	61306946	G	A	61306946	2	1	108	1	0	0	0	0	0	0	0	1	14102	1136	40	1		1	SERPINB3	18	61306946	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08	26161348	61306946	16770302	54	7294											
CYP2F1	1572	broad.mit.edu	37	19	41630793	41630793	+	Silent	SNP	C	C	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:41630793C>T	uc002opu.1	+	7	1190	c.1134C>T	c.(1132-1134)cgC>cgT	p.R378R	CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	378					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CGGCCTTTCGCGGCTTCCTGA	0.597													T	41630793	C	T	41630793	2	4	108	1	0	0	0	0	0	0	0	1	4171	755	27	1		1	CYP2F1	19	41630793	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08		41630793	17498190	55	7295											
ZNF813	126017	broad.mit.edu	37	19	53995185	53995185	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:53995185G>T	uc021uzf.1	+	0					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.A567S	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGCACACCTTGCACGTCACCA	0.378													T	53995185	G	T	53995185	3	4	108	1	0	0	0	0	1	0	0	0	18172	1319	46	5	1709	5	ZNF813	19	53995185	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	12364392	53995185	5133798	56	7296											
NLRP5	126206	broad.mit.edu	37	19	56515184	56515184	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:56515184C>A	uc002qmj.3	+	1	165	c.165C>A	c.(163-165)gaC>gaA	p.D55E	NLRP5_uc002qmi.3_Missense_Mutation_p.D55E	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	55						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGAAGGAGACAAATCGCTCA	0.423													A	56515184	C	A	56515184	3	1	108	1	0	0	0	0	1	0	0	0	10480	477	17	5	171	5	NLRP5	19	56515184	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	2519999	56515184	2613799	57	7297											
PCK1	5105	broad.mit.edu	37	20	56139269	56139269	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr20:56139269G>A	uc002xyn.4	+	6	1169	c.1006G>A	c.(1006-1008)Gct>Act	p.A336T	PCK1_uc010zzm.2_Missense_Mutation_p.A19T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	336					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			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)			TTTCGGTGTCGCTCCTGGGAC	0.493													A	56139269	G	A	56139269	3	1	108	1	0	0	0	0	1	0	0	0	11581	1087	38	1	1028	1	PCK1	20	56139269	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		56139269	6886251	58	7298											
SLC17A9	63910	broad.mit.edu	37	20	61588307	61588307	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr20:61588307G>A	uc002yea.4	+	1	434	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	SLC17A9_uc002ydz.4_Missense_Mutation_p.G78R|SLC17A9_uc011aap.1_Missense_Mutation_p.G104R	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	84					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGGCCACCTCGGGGATCGGTA	0.662													A	61588307	G	A	61588307	3	1	108	1	0	0	0	0	1	0	0	0	14424	1116	39	2	256	2	SLC17A9	20	61588307	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	5449038	61588307	1437213	59	7299											
FTHL17	53940	broad.mit.edu	37	X	31089936	31089936	+	Silent	SNP	G	G	A			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chrX:31089936G>A	uc004dcl.1	-	0	235	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	45	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGGCCACGTCGTCCCGGTTGA	0.582													A	31089936	G	A	31089936	2	1	108	1	0	0	0	0	0	0	0	1	6083	1136	40	1		1	FTHL17	23	31089936	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08		31089936	124180624	60	7300											
EPHA10	284656	broad.mit.edu	37	1	38197144	38197144	+	Silent	SNP	C	C	T	rs77925917	by1000genomes	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:38197144C>T	uc009vvi.3	-	6	1688	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	534	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.S534Y(1)|p.P535P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGATGGCCCCGGGGAAGCGG	0.597													T	38197144	C	T	38197144	2	4	109	1	0	0	0	0	0	0	0	1	5166	639	23	2		2	EPHA10	1	38197144	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		38197144	211053477	1	7301											
TMEM69	51249	broad.mit.edu	37	1	46159245	46159245	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:46159245T>C	uc001cor.1	+	2	608	c.412T>C	c.(412-414)Tct>Cct	p.S138P		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	Homo sapiens transmembrane protein 69 (TMEM69), mRNA.	138						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CAGTTTCCTATCTTTCTTGGG	0.443													C	46159245	T	C	46159245	3	2	109	1	0	0	0	0	1	0	0	0	16195	1435	50	4	418	4	TMEM69	1	46159245	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	7962101	46159245	203091376	2	7302											
KIAA1324	57535	broad.mit.edu	37	1	109737164	109737164	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:109737164C>T	uc021orb.1	+	14	2290	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	KIAA1324_uc009wex.2_Missense_Mutation_p.S640F|KIAA1324_uc010ovg.2_Missense_Mutation_p.S588F|KIAA1324_uc009wey.3_Missense_Mutation_p.S603F|KIAA1324_uc001dwr.3_Missense_Mutation_p.S340F|KIAA1324_uc001dws.1_5'Flank|KIAA1324_uc009wez.1_5'Flank	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	690					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGCTTCACTTCCAAAGGGCTG	0.493													T	109737164	C	T	109737164	3	4	109	1	0	0	0	0	1	0	0	0	8223	855	30	3	2127	3	KIAA1324	1	109737164	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	63577919	109737164	139513457	3	7303											
CEP170	9859	broad.mit.edu	37	1	243332957	243332957	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:243332957A>G	uc021plo.1	-	11	2224	c.1816T>C	c.(1816-1818)Ttt>Ctt	p.F606L	CEP170_uc021plp.1_Missense_Mutation_p.F508L|CEP170_uc021plq.1_Missense_Mutation_p.F508L	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	606						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GGTGCAGAAAATTCCATTATC	0.398													G	243332957	A	G	243332957	3	3	109	1	0	0	0	0	1	0	0	0	3250	101	4	4	3004	4	CEP170	1	243332957	Missense_Mutation	SNP	A	TCGA-06-6701-01A-11D-1845-08	133595793	243332957	5917664	4	7304											
SERTAD2	9792	broad.mit.edu	37	2	64863336	64863336	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:64863336A>T	uc021viq.1	-	0	670	c.670T>A	c.(670-672)Tct>Act	p.S224T	SERTAD2_uc002sde.2_Missense_Mutation_p.S224T	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	224					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CCAGGCAGAGAGTCCATCAGT	0.527													T	64863336	A	T	64863336	3	4	109	1	0	0	0	0	1	0	0	0	14121	304	11	5	278	5	SERTAD2	2	64863336	Missense_Mutation	SNP	A	TCGA-06-6701-01A-11D-1845-08		64863336	178336037	5	7305											
TTC31	64427	broad.mit.edu	37	2	74718780	74718780	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:74718780A>T	uc002slt.2	+	7	880	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	TTC31_uc002sls.2_Missense_Mutation_p.Q215L|TTC31_uc002slu.2_Missense_Mutation_p.Q142L	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	286							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAGAGGCCCCAGCAGAGTCCA	0.597													T	74718780	A	T	74718780	3	4	109	1	0	0	0	0	1	0	0	0	16697	188	7	5	887	5	TTC31	2	74718780	Missense_Mutation	SNP	A	TCGA-06-6701-01A-11D-1845-08	9855444	74718780	168480593	6	7306											
IL18RAP	8807	broad.mit.edu	37	2	103067331	103067331	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:103067331G>A	uc002tbx.3	+	10	1718	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	IL18RAP_uc010fiz.3_Missense_Mutation_p.V270I	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	412	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.F411F(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGATGCTTTCGTATCCTATGC	0.338													A	103067331	G	A	103067331	3	1	109	1	0	0	0	0	1	0	0	0	7648	1145	40	1	1268	1	IL18RAP	2	103067331	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	28348551	103067331	140132042	7	7307											
ZNF385B	151126	broad.mit.edu	37	2	180634432	180634432	+	Silent	SNP	G	G	A	rs61747266	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:180634432G>A	uc002unn.4	-	2	655	c.51C>T	c.(49-51)aaC>aaT	p.N17N		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	17						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CAGGCCTGTCGTTCTTTATCC	0.463													A	180634432	G	A	180634432	2	1	109	1	0	0	0	0	0	0	0	1	17874	1136	40	1		1	ZNF385B	2	180634432	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08	77567101	180634432	62564941	8	7308											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	109	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	28478680	209113112	34086261	9	7309											
IRS1	3667	broad.mit.edu	37	2	227661259	227661259	+	Nonsense_Mutation	SNP	G	G	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:227661259G>C	uc021vxn.1	-	0	2196	c.2196C>G	c.(2194-2196)taC>taG	p.Y732*	IRS1_uc002voh.4_Nonsense_Mutation_p.Y732*	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	732					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.D731E(1)|p.D731G(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)		ACATGTTCATGTAGTCACCTG	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	227661259	G	C	227661259	4	2	109	1	0	0	0	0	0	1	0	0	7840	1372	48	5	1536	5	IRS1	2	227661259	Nonsense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	18548147	227661259	15538114	10	7310											
RNF123	63891	broad.mit.edu	37	3	49735348	49735348	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:49735348C>T	uc003cxh.3	+	5	459	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	125	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGGCACCATCCGCTCTACCAC	0.557													T	49735348	C	T	49735348	3	4	109	1	0	0	0	0	1	0	0	0	13433	652	23	2	391	2	RNF123	3	49735348	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		49735348	148287082	11	7311											
EPHA3	2042	broad.mit.edu	37	3	89462354	89462354	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:89462354T>C	uc003dqy.3	+	9	2051	c.1826T>C	c.(1825-1827)gTt>gCt	p.V609A	EPHA3_uc021xbf.1_Missense_Mutation_p.V609A	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	609						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCCAAGCTGTTCATGAGTTT	0.423										TSP Lung(6;0.00050)			C	89462354	T	C	89462354	3	2	109	1	0	0	0	0	1	0	0	0	5168	1725	60	4	1890	4	EPHA3	3	89462354	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	39727006	89462354	108560076	12	7312											
FRAS1	80144	broad.mit.edu	37	4	79429983	79429983	+	Silent	SNP	C	C	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr4:79429983C>A	uc003hlb.2	+	62	10043	c.9603C>A	c.(9601-9603)ccC>ccA	p.P3201P	FRAS1_uc003hlc.1_Silent_p.P203P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3196					cell communication	integral to membrane|plasma membrane	metal ion binding			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						GTGTCACCCCCTGCGACCCTC	0.567													A	79429983	C	A	79429983	2	1	109	1	0	0	0	0	0	0	0	1	6042	668	24	5		5	FRAS1	4	79429983	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		79429983	111724293	13	7313											
COPS4	51138	broad.mit.edu	37	4	83970319	83970319	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr4:83970319T>G	uc003hoa.3	+	3	294	c.155_splice	c.e3-1	p.M52_splice	COPS4_uc010ijx.3_Splice_Site_p.M52_splice	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.	52					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TTTAAACAAGTGGTAAATGAG	0.318													G	83970319	T	G	83970319	3	3	109	1	0	0	0	0	1	0	0	0	3735	1710	59	5	165	5	COPS4	4	83970319	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	4540336	83970319	107183957	14	7314											
TAS2R1	50834	broad.mit.edu	37	5	9629276	9629276	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:9629276delT	uc003jem.1	-	0	1188	c.869delA	c.(868-870)aagfs	p.K290fs		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	290					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGGAGGAACTTTTTTGCATT	0.393													-	9629276	T	-	9629276	7	5	109	1	0	1	0	1	0	0	0	0	15562	1609	56	0	34	0	TAS2R1	5	9629276	Frame_Shift_Del	DEL	T	TCGA-06-6701-01A-11D-1845-08		9629276	171285984	15	7315											
RGNEF	64283	broad.mit.edu	37	5	73128199	73128199	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:73128199C>T	uc010izf.3	+	9	1237	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	RGNEF_uc011csq.2_Missense_Mutation_p.P354L|RGNEF_uc003kcy.1_Missense_Mutation_p.P354L|RGNEF_uc021yam.1_Missense_Mutation_p.P354L|RGNEF_uc011csr.2_Missense_Mutation_p.P41L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	354					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TCCAAGCCGCCCTCGACATTG	0.448													T	73128199	C	T	73128199	3	4	109	1	0	0	0	0	1	0	0	0	13283	623	22	3	1095	3	RGNEF	5	73128199	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	63498923	73128199	107787061	16	7316											
ENC1	8507	broad.mit.edu	37	5	73931841	73931841	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:73931841T>C	uc003kdc.4	-	1	1601	c.470A>G	c.(469-471)gAt>gGt	p.D157G	ENC1_uc011css.2_Missense_Mutation_p.D84G|ENC1_uc021yao.1_Missense_Mutation_p.D157G	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	157					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTGGTGTGCATCAGACAGCAG	0.517													C	73931841	T	C	73931841	3	2	109	1	0	0	0	0	1	0	0	0	5113	1435	50	4	1303	4	ENC1	5	73931841	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	803642	73931841	106983419	17	7317											
PCDHGC5	8641	broad.mit.edu	37	5	140769114	140769114	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:140769114G>A	uc003lkc.2	+	0	1663	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	559	Cadherin 5.				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)			CGACCGCAACGACAATGCGCC	0.672													A	140769114	G	A	140769114	3	1	109	1	0	0	0	0	1	0	0	0	11571	1058	37	2		2	PCDHGC5	5	140769114	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	66837273	140769114	40146146	18	7318											
ELOVL2	54898	broad.mit.edu	37	6	10995345	10995345	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr6:10995345C>T	uc003mzp.4	-	4	561	c.400G>A	c.(400-402)Gtt>Att	p.V134I		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	134					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			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)			TTCCGCAAAACGAAGAAAATT	0.393													T	10995345	C	T	10995345	3	4	109	1	0	0	0	0	1	0	0	0	5074	536	19	1	506	1	ELOVL2	6	10995345	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		10995345	160119722	19	7319											
ITPR3	3710	broad.mit.edu	37	6	33654271	33654271	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr6:33654271G>A	uc021ywr.1	+	42	6178	c.5954G>A	c.(5953-5955)cGc>cAc	p.R1985H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1985					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGCAAGTACCGCATGGATCTG	0.547													A	33654271	G	A	33654271	3	1	109	1	0	0	0	0	1	0	0	0	7922	1087	38	1	6124	1	ITPR3	6	33654271	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	22658926	33654271	137460796	20	7320											
SNAI2	6591	broad.mit.edu	37	8	49832679	49832679	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:49832679T>C	uc003xqp.3	-	1	576	c.401A>G	c.(400-402)aAt>aGt	p.N134S		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	134					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N134D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATAGGTCTTATTGCATAAATT	0.438													C	49832679	T	C	49832679	3	2	109	1	0	0	0	0	1	0	0	0	14827	1493	52	4	413	4	SNAI2	8	49832679	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08		49832679	96531343	21	7321											
ZFHX4	79776	broad.mit.edu	37	8	77617855	77617855	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:77617855C>T	uc003yau.2	+	1	1919	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	ZFHX4_uc003yat.1_Missense_Mutation_p.S511L|ZFHX4_uc003yaw.1_Missense_Mutation_p.S511L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	511						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			TCTCCTTTATCATCCAGTGTG	0.413										HNSCC(33;0.089)			T	77617855	C	T	77617855	3	4	109	1	0	0	0	0	1	0	0	0	17632	838	29	3	1534	3	ZFHX4	8	77617855	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	27785176	77617855	68746167	22	7322			1	23		2	2	43	C		6.376435e-05
ZFHX4	79776	broad.mit.edu	37	8	77617897	77617897	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:77617897C>T	uc003yau.2	+	1	1961	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	ZFHX4_uc003yat.1_Missense_Mutation_p.S525F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S525F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	525	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			ACCTCGTCCTCCTCGGCGACT	0.433										HNSCC(33;0.089)			T	77617897	C	T	77617897	3	4	109	1	0	0	0	0	1	0	0	0	17632	855	30	3	1576	3	ZFHX4	8	77617897	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	42	77617897	68746125	23	7323			1	23		2	2	43	C		6.376435e-05
NPDC1	56654	broad.mit.edu	37	9	139934426	139934426	+	Silent	SNP	G	G	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr9:139934426G>C	uc004cks.2	-	6	1789	c.1116C>G	c.(1114-1116)gcC>gcG	p.A372A	NPDC1_uc004ckt.2_Silent_p.A294A	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA.	294						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CACTCACCGGGGCCAGGCCCG	0.657													C	139934426	G	C	139934426	2	2	109	1	0	0	0	0	0	0	0	1	10573	1219	43	5		5	NPDC1	9	139934426	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08		139934426	1279005	24	7324											
OGDHL	55753	broad.mit.edu	37	10	50955213	50955213	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:50955213C>G	uc009xog.3	-	7	1144	c.1110G>C	c.(1108-1110)gaG>gaC	p.E370D	OGDHL_uc001jie.3_Missense_Mutation_p.E343D|OGDHL_uc010qgt.2_Missense_Mutation_p.E286D|OGDHL_uc010qgu.2_Missense_Mutation_p.E134D|OGDHL_uc009xoh.2_Missense_Mutation_p.E134D	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	343					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.E343E(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						GGTTGATCCTCTCATGGTACA	0.587													G	50955213	C	G	50955213	3	3	109	1	0	0	0	0	1	0	0	0	10840	912	32	5	2063	5	OGDHL	10	50955213	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		50955213	84579534	25	7325											
ENTPD1	953	broad.mit.edu	37	10	97607463	97607463	+	Silent	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:97607463G>A	uc010qoj.2	+	7	1173	c.1110_splice	c.e7+1	p.G370_splice	ENTPD1_uc001kli.4_Splice_Site_p.G365_splice|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Splice_Site_p.G250_splice|ENTPD1_uc010qol.2_Splice_Site_p.G250_splice|ENTPD1_uc001klh.4_Splice_Site_p.G358_splice|ENTPD1_uc010qom.2_Splice_Site_p.G317_splice|ENTPD1_uc010qon.2_Splice_Site_p.G220_splice|ENTPD1_uc009xva.3_Splice_Site_p.G220_splice	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	358					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGGATTTTGGGGTAAGTTTGT	0.408													A	97607463	G	A	97607463	2	1	109	1	0	0	0	0	0	0	0	1	5138	1246	43	3		3	ENTPD1	10	97607463	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08	46652250	97607463	37927284	26	7326											
ACADSB	36	broad.mit.edu	37	10	124813243	124813243	+	Silent	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:124813243T>C	uc001lhb.3	+	10	1378	c.1261T>C	c.(1261-1263)Ttg>Ctg	p.L421L	ACADSB_uc010qub.2_Silent_p.L319L	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	421					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CAACATCCAGTTGAACACCAT	0.433													C	124813243	T	C	124813243	2	2	109	1	0	0	0	0	0	0	0	1	115	1722	60	4		4	ACADSB	10	124813243	Silent	SNP	T	TCGA-06-6701-01A-11D-1845-08	27205780	124813243	10721504	27	7327											
MMP26	56547	broad.mit.edu	37	11	5012728	5012728	+	Splice_Site	SNP	T	T	C			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr11:5012728T>C	uc001lzv.3	+	4	613	c.595_splice	c.e4+2	p.G199_splice		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	199					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGACACTGGTAAATGCCTTG	0.483													C	5012728	T	C	5012728	5	2	109	1	0	0	0	0	0	0	1	0	9663	1652	57	4	611	4	MMP26	11	5012728	Splice_Site	SNP	T	TCGA-06-6701-01A-11D-1845-08		5012728	129993788	28	7328											
GTF2H1	2965	broad.mit.edu	37	11	18369162	18369162	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr11:18369162delG	uc001moi.2	+	8	1559	c.865delG	c.(865-867)gctfs	p.A289fs	GTF2H1_uc001moh.2_Frame_Shift_Del_p.A289fs|GTF2H1_uc009yhm.2_Frame_Shift_Del_p.A173fs	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	289					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TGTGCCATCTGCTTCCAATTC	0.373								Nucleotide excision repair (NER)					-	18369162	G	-	18369162	7	5	109	1	0	1	0	1	0	0	0	0	6860	1319	46	0	891	0	GTF2H1	11	18369162	Frame_Shift_Del	DEL	G	TCGA-06-6701-01A-11D-1845-08	13356434	18369162	116637354	29	7329											
DDN	23109	broad.mit.edu	37	12	49391285	49391285	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:49391285C>T	uc001rsv.1	-	1	1392	c.1374G>A	c.(1372-1374)acG>acA	p.T458T		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	458	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCACTACGCACGTGGCGTCAA	0.642													T	49391285	C	T	49391285	2	4	109	1	0	0	0	0	0	0	0	1	4333	523	19	1		1	DDN	12	49391285	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		49391285	84460610	30	7330											
TSPAN19	144448	broad.mit.edu	37	12	85411285	85411285	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:85411285T>A	uc009zsj.3	-	6	645	c.544A>T	c.(544-546)Act>Tct	p.T182S		NM_001100917	NP_001094387	P0C672	TSN19_HUMAN	Homo sapiens tetraspanin 19 (TSPAN19), mRNA.	182						integral to membrane				ovary(1)	1						TTTCTTAAAGTTGACTTTGTG	0.343													A	85411285	T	A	85411285	3	1	109	1	0	0	0	0	1	0	0	0	16640	1725	60	5	214	5	TSPAN19	12	85411285	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	36020000	85411285	48440610	31	7331											
TRPC4	7223	broad.mit.edu	37	13	38320377	38320377	+	Silent	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr13:38320377G>A	uc010abx.3	-	2	829	c.594C>T	c.(592-594)aaC>aaT	p.N198N	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.N198N|TRPC4_uc001uws.3_Silent_p.N198N|TRPC4_uc010tey.2_Silent_p.N198N|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Silent_p.N198N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	198					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTTGTAGATGTTGAGTCTGG	0.532													A	38320377	G	A	38320377	2	1	109	1	0	0	0	0	0	0	0	1	16577	1368	48	3		3	TRPC4	13	38320377	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08		38320377	76849501	32	7332											
CDH24	64403	broad.mit.edu	37	14	23524268	23524268	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr14:23524268C>T	uc001wil.3	-	3	756	c.496_splice	c.e3+1	p.G166_splice	CDH24_uc010akf.3_Splice_Site_p.G166_splice|CDH24_uc001win.3_Splice_Site_p.G166_splice	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	166	Cadherin 2.				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			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)		GGGTGCTCACCGACATTGGAC	0.552											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	23524268	C	T	23524268	3	4	109	1	0	0	0	0	1	0	0	0	3109	666	23	2	2007	2	CDH24	14	23524268	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		23524268	83825272	33	7333											
ZNF710	374655	broad.mit.edu	37	15	90610834	90610834	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr15:90610834C>T	uc002bov.2	+	1	588	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGAGCAGCGCCGTCAAGATGA	0.687													T	90610834	C	T	90610834	2	4	109	1	0	0	0	0	0	0	0	1	18112	639	23	2		2	ZNF710	15	90610834	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		90610834	11920558	34	7334											
WDR90	197335	broad.mit.edu	37	16	703624	703624	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:703624T>G	uc002cii.1	+	11	1387	c.1333T>G	c.(1333-1335)Tgc>Ggc	p.C445G	WDR90_uc002cig.1_Missense_Mutation_p.C445G|WDR90_uc002cih.1_Missense_Mutation_p.C446G|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	445										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GACCGGGCGGTGCTTGTGCCT	0.657													G	703624	T	G	703624	3	3	109	1	0	0	0	0	1	0	0	0	17334	1696	59	5	1379	5	WDR90	16	703624	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08		703624	89651129	35	7335											
IGFALS	3483	broad.mit.edu	37	16	1842222	1842222	+	Missense_Mutation	SNP	G	G	A	rs145465654		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:1842222G>A	uc010uvn.2	-	1	392	c.311C>T	c.(310-312)aCg>aTg	p.T104M	IGFALS_uc002cmy.3_Missense_Mutation_p.T66M|IGFALS_uc010uvo.2_5'UTR	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	66					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGCAGGCGCGTGAGGTTCCT	0.692													A	1842222	G	A	1842222	3	1	109	1	0	0	0	0	1	0	0	0	7577	1145	40	1	1624	1	IGFALS	16	1842222	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	1138598	1842222	88512531	36	7336											
TP53	7157	broad.mit.edu	37	17	7577096	7577097	+	Missense_Mutation	DNP	TC	TC	GG			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:7577096_7577097TC>GG	uc002gim.2	-	7	1035_1036	c.841_842GA>CC	c.(841-843)gac>CCc	p.D281P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149P|TP53_uc010cnf.1_Missense_Mutation_p.D149P|TP53_uc002gii.1_Missense_Mutation_p.D149P|TP53_uc010cni.1_Missense_Mutation_p.D281P|TP53_uc010cnh.1_Missense_Mutation_p.D281P|TP53_uc002gij.2_Missense_Mutation_p.D281P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.D281G(20)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281V(9)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.D281fs*63(4)|p.R280_D281delRD(4)|p.D281A(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(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)		TGTGCGCCGGTCTCTCCCAGGA	0.55		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)			GG	7577097	TC	GG	7577096	3	3	109	1	0	0	0	0	1	0	0	0	16378	1667	58	5	444	5	TP53	17	7577096	Missense_Mutation	DNP	TC	TCGA-06-6701-01A-11D-1845-08		7577096	73618114	37	7337											
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:21094331_21094333delGAA	uc002gyo.3	+	6	887_889	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.	285						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507													-	21094333	GAA	-	21094331	7	5	109	1	0	1	0	1	0	0	0	0	4496	1161	41	0	869	0	DHRS7B	17	21094331	In_Frame_Del	DEL	GAA	TCGA-06-6701-01A-11D-1845-08	13517235	21094331	60100879	38	7338											
FOXN1	8456	broad.mit.edu	37	17	26851529	26851529	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:26851529C>T	uc010crm.3	+	2	330	c.132C>T	c.(130-132)gcC>gcT	p.A44A	FOXN1_uc002hbj.3_Silent_p.A44A	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	44					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGAAGCATGCCGGCTTCAGCT	0.637													T	26851529	C	T	26851529	2	4	109	1	0	0	0	0	0	0	0	1	6019	639	23	2		2	FOXN1	17	26851529	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08	5757198	26851529	54343681	39	7339											
ANKRD13B	124930	broad.mit.edu	37	17	27939701	27939701	+	Silent	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:27939701G>A	uc002hei.3	+	12	1556	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	ANKRD13B_uc002heh.3_Silent_p.A349A|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	481										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TCTCCCCAGCGTTGTTCGAGG	0.751													A	27939701	G	A	27939701	2	1	109	1	0	0	0	0	0	0	0	1	642	1132	40	1		1	ANKRD13B	17	27939701	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08	1088172	27939701	53255509	40	7340											
MAST1	22983	broad.mit.edu	37	19	12977473	12977473	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:12977473C>T	uc002mvm.3	+	17	2164	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	679	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGCCCGCTCAGACAGGTAT	0.597													T	12977473	C	T	12977473	3	4	109	1	0	0	0	0	1	0	0	0	9324	838	29	3	2106	3	MAST1	19	12977473	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		12977473	46151510	41	7341											
CYP4F8	11283	broad.mit.edu	37	19	15734860	15734860	+	Silent	SNP	G	G	A			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:15734860G>A	uc002nbi.3	+	9	1132	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	CYP4F8_uc010xoj.2_Silent_p.E169E	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	357					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCGGCAGGAGGTGCAAGAGC	0.582													A	15734860	G	A	15734860	2	1	109	1	0	0	0	0	0	0	0	1	4191	991	35	3		3	CYP4F8	19	15734860	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08	2757387	15734860	43394123	42	7342											
PSG4	5675	broad.mit.edu	37	19	43420415	43420415	+	Nonsense_Mutation	SNP	G	G	A	rs112289603	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:43420415G>A	uc002ovj.1	-	1	388	c.289C>T	c.(289-291)Cga>Tga	p.R97*	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Nonsense_Mutation_p.R97*	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	98	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ACTGTTTCTCGTCCACTGTAG	0.458													A	43420415	G	A	43420415	4	1	109	1	0	0	0	0	0	1	0	0	12657	1153	40	1		1	PSG4	19	43420415	Nonsense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	27685555	43420415	15708568	43	7343											
DKKL1	27120	broad.mit.edu	37	19	49867855	49867855	+	Silent	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:49867855C>T	uc002pnk.3	+	1	241	c.27C>T	c.(25-27)ccC>ccT	p.P9P	TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Silent_p.P9P	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	9					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CACCTGCCCCCGCAAGGCGGC	0.677													T	49867855	C	T	49867855	2	4	109	1	0	0	0	0	0	0	0	1	4548	639	23	2		2	DKKL1	19	49867855	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08	6447440	49867855	9261128	44	7344											
APOBEC3F	60489	broad.mit.edu	37	22	39479797	39479797	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr22:39479797C>T	uc021wpr.1	+	4	936	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	APOBEC3F_uc003awx.3_Missense_Mutation_p.R215W|APOBEC3F_uc003awy.3_Missense_Mutation_p.R148W	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	215					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGTCAGAGGACGGCATGAGAC	0.522													T	39479797	C	T	39479797	3	4	109	1	0	0	0	0	1	0	0	0	793	527	19	1		1	APOBEC3F	22	39479797	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		39479797	11824769	45	7345											
CSF2RA	1438	broad.mit.edu	37	X	1413266	1413266	+	Missense_Mutation	SNP	C	C	T	rs149974131	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chrX:1413266C>T	uc010nct.2	+	8	1014	c.692C>T	c.(691-693)aCg>aTg	p.T231M	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T231M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T231M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T231M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.T98M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T231M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T231M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T231M	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	231						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	TGCAACACGACGCACTGCCTC	0.572													T	1413266	C	T	1413266	3	4	109	1	0	0	0	0	1	0	0	0	3934	536	19	1	714	1	CSF2RA	23	1413266	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		1413266	153857294	46	7346											
ATRX	546	broad.mit.edu	37	X	76888787	76888792	+	In_Frame_Del	DEL	ATGATC	ATGATC	-			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chrX:76888787_76888792delATGATC	uc004ecp.4	-	18	5269_5274	c.5037_5042delGATCAT	c.(5035-5043)atgatcata>ata	p.MI1679del	ATRX_uc004ecq.4_In_Frame_Del_p.MI1641del|ATRX_uc004eco.4_In_Frame_Del_p.MI1464del	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1679	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCATAGCCTATGATCATAACACCAC	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76888792	ATGATC	-	76888787	7	5	109	1	0	1	0	1	0	0	0	0	1208	449	16	0	2504	0	ATRX	23	76888787	In_Frame_Del	DEL	ATGATC	TCGA-06-6701-01A-11D-1845-08	75475521	76888787	78381773	47	7347											
CMPK1	51727	broad.mit.edu	37	1	47838725	47838725	+	Silent	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:47838725C>T	uc001cri.3	+	2	566	c.417C>T	c.(415-417)acC>acT	p.T139T	CMPK1_uc010omp.2_Silent_p.T90T|CMPK1_uc010omq.2_Non-coding_Transcript	NM_016308	NP_057392	P30085	KCY_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 1, cytosolic (CMPK1), transcript variant 1, mRNA.	107					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	GGAACAAGACCATGGATGGGA	0.388													T	47838725	C	T	47838725	2	4	110	1	0	0	0	0	0	0	0	1	3580	581	21	3		3	CMPK1	1	47838725	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08		47838725	201411896	1	7348											
DDAH1	23576	broad.mit.edu	37	1	85790448	85790448	+	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:85790448G>A	uc001dlb.3	-	4	877	c.716C>T	c.(715-717)cCg>cTg	p.P239L	DDAH1_uc001dlc.3_Missense_Mutation_p.P136L|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Missense_Mutation_p.P139L|DDAH1_uc009wco.3_Missense_Mutation_p.P136L	NM_012137	NP_001127917	O94760	DDAH1_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA.	239					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ATACTCTTCCGGGGTTCGGTG	0.473													A	85790448	G	A	85790448	3	1	110	1	0	0	0	0	1	0	0	0	4321	1116	39	2	149	2	DDAH1	1	85790448	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08	37951723	85790448	163460173	2	7349											
PKN2	5586	broad.mit.edu	37	1	89294277	89294277	+	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:89294277G>A	uc001dmn.3	+	18	2875	c.2533G>A	c.(2533-2535)Gtg>Atg	p.V845M	PKN2_uc010osp.2_Missense_Mutation_p.V829M|PKN2_uc010osq.2_Missense_Mutation_p.V688M|PKN2_uc009wcv.3_Missense_Mutation_p.V797M|PKN2_uc010osr.2_Missense_Mutation_p.V510M	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	845	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGGCCTTGGCGTGCTTATATA	0.383													A	89294277	G	A	89294277	3	1	110	1	0	0	0	0	1	0	0	0	11980	1145	40	1	2607	1	PKN2	1	89294277	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08	3503829	89294277	159956344	3	7350											
OR14C36	127066	broad.mit.edu	37	1	248512862	248512862	+	Silent	SNP	G	G	A	rs143199703		TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:248512862G>A	uc010pzl.2	+	0	786	c.786G>A	c.(784-786)gcG>gcA	p.A262A		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A262A(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGCCACCTGCGATACCTGCAG	0.463													A	248512862	G	A	248512862	2	1	110	1	0	0	0	0	0	0	0	1	10946	1045	37	2		2	OR14C36	1	248512862	Silent	SNP	G	TCGA-08-0386-01A-01D-1492-08	159218585	248512862	737759	4	7351											
PLCD1	5333	broad.mit.edu	37	3	38051499	38051499	+	Missense_Mutation	SNP	G	G	C			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr3:38051499G>C	uc003chm.3	-	7	1600	c.1246C>G	c.(1246-1248)Ctg>Gtg	p.L416V	PLCD1_uc003chn.3_Missense_Mutation_p.L395V	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	395	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGCTGCTCCAGTGTGCAGTGG	0.647													C	38051499	G	C	38051499	3	2	110	1	0	0	0	0	1	0	0	0	12031	1020	36	5	1119	5	PLCD1	3	38051499	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08		38051499	159970931	5	7352											
MTMR12	54545	broad.mit.edu	37	5	32230234	32230234	+	Missense_Mutation	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr5:32230234C>T	uc003jhq.3	-	15	2064	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	MTMR12_uc010iuk.3_Missense_Mutation_p.E578K|MTMR12_uc010iul.3_Missense_Mutation_p.E522K	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	632	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCGGGCCCCTCGATATGCGGT	0.493													T	32230234	C	T	32230234	3	4	110	1	0	0	0	0	1	0	0	0	9941	893	31	2	353	2	MTMR12	5	32230234	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08		32230234	148685026	6	7353											
PHF1	5252	broad.mit.edu	37	6	33380059	33380059	+	Silent	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr6:33380059C>T	uc003oeh.3	+	1	255	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.L7L|PHF1_uc010jux.3_5'UTR	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	7					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCCCCCCCGGCTGAGCCGCTC	0.597													T	33380059	C	T	33380059	2	4	110	1	0	0	0	0	0	0	0	1	11820	796	28	3		3	PHF1	6	33380059	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08		33380059	137735008	7	7354											
COL21A1	81578	broad.mit.edu	37	6	56044496	56044496	+	Missense_Mutation	SNP	T	T	C			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr6:56044496T>C	uc003pcs.3	-	2	752	c.520A>G	c.(520-522)Aca>Gca	p.T174A	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.T174A|COL21A1_uc003pcu.1_Missense_Mutation_p.T174A	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	174	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCATCTTCTGTTTCTGAACCA	0.398													C	56044496	T	C	56044496	3	2	110	1	0	0	0	0	1	0	0	0	3680	1725	60	4	2465	4	COL21A1	6	56044496	Missense_Mutation	SNP	T	TCGA-08-0386-01A-01D-1492-08	22664437	56044496	115070571	8	7355											
CRY2	1408	broad.mit.edu	37	11	45891983	45891983	+	Silent	SNP	G	G	A			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr11:45891983G>A	uc010rgn.2	+	8	1534	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	CRY2_uc009ykw.3_Silent_p.V422V|CRY2_uc010rgo.2_Silent_p.V226V	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	483	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	p.M503I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TCATTGGTGTGGACTACCCAC	0.532													A	45891983	G	A	45891983	2	1	110	1	0	0	0	0	0	0	0	1	3904	1335	47	3		3	CRY2	11	45891983	Silent	SNP	G	TCGA-08-0386-01A-01D-1492-08		45891983	89114533	9	7356											
P2RX2	22953	broad.mit.edu	37	12	133197851	133197853	+	In_Frame_Del	DEL	TAC	TAC	-			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr12:133197851_133197853delTAC	uc001ukk.1	+	8	916_918	c.916_918delTAC	c.(916-918)tacdel	p.Y307del	P2RX2_uc001uki.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukj.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukl.1_In_Frame_Del_p.Y283del|P2RX2_uc001ukm.1_In_Frame_Del_p.Y235del|P2RX2_uc001ukn.1_In_Frame_Del_p.Y215del|P2RX2_uc009zyt.1_In_Frame_Del_p.Y307del|P2RX2_uc001uko.1_In_Frame_Del_p.Y273del	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.	307					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GTTTGCCAAATACTACAAGATCA	0.606													-	133197853	TAC	-	133197851	7	5	110	1	0	1	0	1	0	0	0	0	11340	1406	49	0	950	0	P2RX2	12	133197851	In_Frame_Del	DEL	TAC	TCGA-08-0386-01A-01D-1492-08		133197851	654044	10	7357											
RIPK3	11035	broad.mit.edu	37	14	24808471	24808471	+	Missense_Mutation	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr14:24808471C>T	uc001wpb.3	-	2	431	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RIPK3_uc001wpa.3_5'Flank|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.R74H	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	74	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCCTTCTAGGCGCAGCACGAA	0.577													T	24808471	C	T	24808471	3	4	110	1	0	0	0	0	1	0	0	0	13382	768	27	1	1367	1	RIPK3	14	24808471	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08		24808471	82541069	11	7358											
MYH1	4619	broad.mit.edu	37	17	10404048	10404048	+	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr17:10404048G>A	uc002gmo.3	-	27	3854	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1254						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTAGAGCGCGGCACATCTTT	0.448													A	10404048	G	A	10404048	3	1	110	1	0	0	0	0	1	0	0	0	10029	1116	39	2	2111	2	MYH1	17	10404048	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08		10404048	70791162	12	7359											
ACTN4	81	broad.mit.edu	37	19	39205183	39205183	+	Silent	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:39205183C>T	uc002oja.2	+	8	1013	c.894C>T	c.(892-894)taC>taT	p.Y298Y	ACTN4_uc010egc.2_Silent_p.Y298Y|ACTN4_uc021uug.1_Silent_p.Y79Y	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	298					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	p.D297N(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGGACTACGAGAAGCTGG	0.582													T	39205183	C	T	39205183	2	4	110	1	0	0	0	0	0	0	0	1	207	547	19	1		1	ACTN4	19	39205183	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08		39205183	19923800	13	7360											
SPHK2	56848	broad.mit.edu	37	19	49132916	49132916	+	Silent	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:49132916C>T	uc002pjw.3	+	4	2734	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	SPHK2_uc010xzt.2_Silent_p.G558G|SPHK2_uc002pjt.3_Silent_p.G411G|SPHK2_uc002pjr.3_Silent_p.G617G|SPHK2_uc002pjs.3_Silent_p.G617G|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.G581G	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	617					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACCACGCGGCGTGCTCACAG	0.682													T	49132916	C	T	49132916	2	4	110	1	0	0	0	0	0	0	0	1	15046	755	27	1		1	SPHK2	19	49132916	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08	9927733	49132916	9996067	14	7361											
NLRP5	126206	broad.mit.edu	37	19	56539737	56539737	+	Missense_Mutation	SNP	C	C	T			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:56539737C>T	uc002qmj.3	+	6	2138	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L	NLRP5_uc002qmi.3_Missense_Mutation_p.P694L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	713						mitochondrion|nucleolus	ATP binding	p.L712V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGTGGCTTCCGATTAACCAG	0.493													T	56539737	C	T	56539737	3	4	110	1	0	0	0	0	1	0	0	0	10480	652	23	2	2164	2	NLRP5	19	56539737	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08	7406821	56539737	2589246	15	7362											
MZF1	7593	broad.mit.edu	37	19	59081801	59081801	+	Missense_Mutation	SNP	C	C	G			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:59081801C>G	uc002qto.3	-	2	1051	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	LOC100131691_uc002qtm.3_Non-coding_Transcript|MZF1_uc002qtn.3_Missense_Mutation_p.E164Q|MZF1_uc010euu.1_Missense_Mutation_p.E205Q	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	164					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GGCCCAGGCTCTGGAGTTGGA	0.582													G	59081801	C	G	59081801	3	3	110	1	0	0	0	0	1	0	0	0	10108	922	32	5	1730	5	MZF1	19	59081801	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08	2542064	59081801	47182	16	7363											
MX1	4599	broad.mit.edu	37	21	42812934	42812934	+	Missense_Mutation	SNP	G	G	A			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr21:42812934G>A	uc010goq.3	+	6	1058	c.712G>A	c.(712-714)Gag>Aag	p.E238K	MX1_uc002yzh.3_Missense_Mutation_p.E238K|MX1_uc002yzi.3_Missense_Mutation_p.E238K	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	238					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	p.P237S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGTGGACCCCGAGGGAGACAG	0.632													A	42812934	G	A	42812934	3	1	110	1	0	0	0	0	1	0	0	0	9997	1059	37	2	730	2	MX1	21	42812934	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08		42812934	5316961	17	7364											
IL28RA	163702	broad.mit.edu	37	1	24507335	24507335	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:24507335C>T	uc001bis.3	-	1	95	c.68G>A	c.(67-69)cGt>cAt	p.R23H	IL28RA_uc001bir.3_Missense_Mutation_p.R23H|IL28RA_uc001bit.3_Missense_Mutation_p.R23H|IL28RA_uc001biu.3_Intron|IL28RA_uc001biv.3_Missense_Mutation_p.R23H	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	23	Fibronectin type-III.				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		AGGGGCCAGACGGGGCCTCCC	0.612													T	24507335	C	T	24507335	3	4	111	1	0	0	0	0	1	0	0	0	7684	536	19	1	1518	1	IL28RA	1	24507335	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		24507335	224743286	1	7365											
C1orf177	163747	broad.mit.edu	37	1	55273597	55273597	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:55273597A>T	uc001cyb.4	+	3	447	c.393A>T	c.(391-393)aaA>aaT	p.K131N	C1orf177_uc001cya.4_Missense_Mutation_p.K131N	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	131										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACAACCTCAAAGACTTCTTAG	0.547													T	55273597	A	T	55273597	3	4	111	1	0	0	0	0	1	0	0	0	2017	69	3	5	407	5	C1orf177	1	55273597	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	30766262	55273597	193977024	2	7366											
CELSR2	1952	broad.mit.edu	37	1	109801473	109801473	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:109801473G>A	uc001dxa.4	+	1	3791	c.3730G>A	c.(3730-3732)Gtg>Atg	p.V1244M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1244	EGF-like 1; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATGCGCTGCGTGTCGGTGCT	0.692													A	109801473	G	A	109801473	3	1	111	1	0	0	0	0	1	0	0	0	3222	1145	40	1	3736	1	CELSR2	1	109801473	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	54527876	109801473	139449148	3	7367											
MOV10	4343	broad.mit.edu	37	1	113239252	113239252	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:113239252G>A	uc001eck.3	+	14	2252	c.1982_splice	c.e14-1	p.G661_splice	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Splice_Site_p.G661_splice|MOV10_uc001ecm.3_Splice_Site_p.G601_splice	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	661					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGCTTCCCAGGGCTGATGGAA	0.602													A	113239252	G	A	113239252	3	1	111	1	0	0	0	0	1	0	0	0	9718	1246	43	3	2032	3	MOV10	1	113239252	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	3437779	113239252	136011369	4	7368											
TCHHL1	126637	broad.mit.edu	37	1	152060548	152060548	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152060548G>A	uc001ezo.1	-	1	137	c.72C>T	c.(70-72)aaC>aaT	p.N24N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	24							calcium ion binding	p.N24N(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTTGCCCCGTTACTGTCCT	0.473													A	152060548	G	A	152060548	2	1	111	1	0	0	0	0	0	0	0	1	15698	1136	40	1		1	TCHHL1	1	152060548	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	38821296	152060548	97190073	5	7369											
FLG	2312	broad.mit.edu	37	1	152278705	152278705	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152278705C>T	uc001ezu.1	-	2	8693	c.8657G>A	c.(8656-8658)cGc>cAc	p.R2886H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2886	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GGATCCCTGGCGCCTGCTTCT	0.562									Ichthyosis				T	152278705	C	T	152278705	3	4	111	1	0	0	0	0	1	0	0	0	5922	768	27	1	3532	1	FLG	1	152278705	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	218157	152278705	96971916	6	7370											
KPRP	448834	broad.mit.edu	37	1	152733665	152733665	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152733665G>T	uc001fal.1	+	1	1659	c.1601G>T	c.(1600-1602)aGt>aTt	p.S534I	KPRP_uc021ozf.1_Missense_Mutation_p.S534I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	534						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCATCCAGTTACAACCAG	0.582													T	152733665	G	T	152733665	3	4	111	1	0	0	0	0	1	0	0	0	8436	1029	36	5	1603	5	KPRP	1	152733665	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	454960	152733665	96516956	7	7371											
DDR2	4921	broad.mit.edu	37	1	162749984	162749984	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:162749984G>A	uc001gcf.3	+	18	2981	c.2516G>A	c.(2515-2517)cGt>cAt	p.R839H	DDR2_uc001gcg.3_Missense_Mutation_p.R839H|AF268386_uc001gch.1_5'Flank	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	839	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			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)			ACGAAGAACCGTCCCTCATTC	0.498													A	162749984	G	A	162749984	3	1	111	1	0	0	0	0	1	0	0	0	4337	1145	40	1	2578	1	DDR2	1	162749984	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	10016319	162749984	86500637	8	7372											
KIFAP3	22920	broad.mit.edu	37	1	170007466	170007466	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:170007466C>T	uc001ggv.3	-	4	753	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	KIFAP3_uc021pep.1_Missense_Mutation_p.R121Q|KIFAP3_uc010ply.2_Missense_Mutation_p.R83Q|KIFAP3_uc001ggw.2_Missense_Mutation_p.R117Q	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	161					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.R161*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAGGATTTCGAGCAAGCTG	0.308													T	170007466	C	T	170007466	3	4	111	1	0	0	0	0	1	0	0	0	8311	884	31	2	1960	2	KIFAP3	1	170007466	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	7257482	170007466	79243155	9	7373											
FAM5B	57795	broad.mit.edu	37	1	177199272	177199272	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:177199272G>A	uc001glf.3	+	1	572	c.260G>A	c.(259-261)aGg>aAg	p.R87K		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	87						extracellular region				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						ACCAGGTACAGGATTTATAGG	0.612													A	177199272	G	A	177199272	3	1	111	1	0	0	0	0	1	0	0	0	5593	1000	35	3	262	3	FAM5B	1	177199272	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	7191806	177199272	72051349	10	7374											
ZAP70	7535	broad.mit.edu	37	2	98354224	98354224	+	Missense_Mutation	SNP	G	G	A	rs150631046		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:98354224G>A	uc002syd.1	+	11	1694	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ZAP70_uc002sye.1_Missense_Mutation_p.R386H|ZAP70_uc002syf.1_Missense_Mutation_p.R189H	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	496	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.A495V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCAGGCCCGCTCAGCAGGG	0.627													A	98354224	G	A	98354224	3	1	111	1	0	0	0	0	1	0	0	0	17511	1087	38	1	1525	1	ZAP70	2	98354224	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		98354224	144845149	11	7375											
SCN7A	6332	broad.mit.edu	37	2	167262324	167262324	+	Silent	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:167262324T>C	uc002udu.2	-	24	4945	c.4815A>G	c.(4813-4815)ttA>ttG	p.L1605L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1605					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAGGGTTGGCTAACAAAAACC	0.368													C	167262324	T	C	167262324	2	2	111	1	0	0	0	0	0	0	0	1	13923	1519	53	4		4	SCN7A	2	167262324	Silent	SNP	T	TCGA-12-0615-01A-01D-1492-08	68908100	167262324	75937049	12	7376											
DNAH7	56171	broad.mit.edu	37	2	196741332	196741332	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:196741332A>G	uc002utj.4	-	36	6154	c.6053T>C	c.(6052-6054)aTt>aCt	p.I2018T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2018	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						TGACATGACAATATTCTGAGT	0.363													G	196741332	A	G	196741332	3	3	111	1	0	0	0	0	1	0	0	0	4606	101	4	4	6137	4	DNAH7	2	196741332	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	29479008	196741332	46458041	13	7377											
AAMP	14	broad.mit.edu	37	2	219131281	219131281	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:219131281G>A	uc002vhl.3	-	4	651	c.567C>T	c.(565-567)gtC>gtT	p.V189V	AAMP_uc002vhk.3_Silent_p.V188V	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	188					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCCAACAGGACAGGTGCCC	0.642													A	219131281	G	A	219131281	2	1	111	1	0	0	0	0	0	0	0	1	17	1161	41	3		3	AAMP	2	219131281	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	22389949	219131281	24068092	14	7378											
SHISA5	51246	broad.mit.edu	37	3	48538580	48538580	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:48538580G>A	uc003ctp.1	-	1	357	c.223C>T	c.(223-225)Cct>Tct	p.P75S	SHISA5_uc003cto.1_Missense_Mutation_p.P44S|SHISA5_uc003cts.1_Missense_Mutation_p.P44S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	75					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						CTGGCCTCAGGCACAGCACAC	0.572													A	48538580	G	A	48538580	3	1	111	1	0	0	0	0	1	0	0	0	14283	1203	42	3	519	3	SHISA5	3	48538580	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		48538580	149483850	15	7379											
ERC2	26059	broad.mit.edu	37	3	56468977	56468977	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:56468977C>T	uc021wzo.1	-	0	199	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ERC2_uc003dhr.1_Missense_Mutation_p.R20H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	20						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R20H(3)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468													T	56468977	C	T	56468977	3	4	111	1	0	0	0	0	1	0	0	0	5211	536	19	1	2868	1	ERC2	3	56468977	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	7930397	56468977	141553453	16	7380											
FAM19A1	407738	broad.mit.edu	37	3	68055847	68055847	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:68055847C>T	uc003dnd.3	+	1	294	c.78C>T	c.(76-78)tcC>tcT	p.S26S	FAM19A1_uc003dne.3_Silent_p.S26S|FAM19A1_uc003dng.3_Silent_p.S26S|FAM19A1_uc003dnf.1_Non-coding_Transcript	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	26						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCATGGATCCCTTCAGCACA	0.502													T	68055847	C	T	68055847	2	4	111	1	0	0	0	0	0	0	0	1	5531	610	22	3		3	FAM19A1	3	68055847	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	11586870	68055847	129966583	17	7381											
CNTN3	5067	broad.mit.edu	37	3	74316462	74316462	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:74316462C>A	uc003dpm.1	-	19	2852	c.2772G>T	c.(2770-2772)gaG>gaT	p.E924D		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	924	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			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)		CTTTAACTTGCTCCCAATTAA	0.358													A	74316462	C	A	74316462	3	1	111	1	0	0	0	0	1	0	0	0	3642	796	28	5	326	5	CNTN3	3	74316462	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	6260615	74316462	123705968	18	7382											
LEPREL1	55214	broad.mit.edu	37	3	189700930	189700930	+	Splice_Site	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:189700930C>T	uc011bsk.2	-	8	1618	c.1230_splice	c.e8-1	p.R410_splice	LEPREL1_uc003fsg.3_Splice_Site_p.R229_splice	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	410					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGAAGGGACCCTGCCCATTCA	0.393													T	189700930	C	T	189700930	5	4	111	1	0	0	0	0	0	0	1	0	8730	695	24	3	929	3	LEPREL1	3	189700930	Splice_Site	SNP	C	TCGA-12-0615-01A-01D-1492-08	115384468	189700930	8321500	19	7383											
WDR1	9948	broad.mit.edu	37	4	10086069	10086070	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:10086069_10086070insT	uc021xlv.1	-	8	1319_1320	c.1036_1037insA	c.(1036-1038)attfs	p.I346fs	WDR1_uc021xlw.1_Frame_Shift_Ins_p.I206fs|WDR1_uc003gmh.2_Non-coding_Transcript|WDR1_uc021xly.1_Frame_Shift_Ins_p.I181fs|WDR1_uc010idm.3_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	346					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AAGGATATTAATGTGTCCGTCG	0.55													T	10086070	-	T	10086069	7	5	111	1	0	1	1	0	0	0	0	0	17269	101	4	0	811	0	WDR1	4	10086069	Frame_Shift_Ins	INS	-	TCGA-12-0615-01A-01D-1492-08		10086069	181068207	20	7384											
FRYL	285527	broad.mit.edu	37	4	48622786	48622786	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:48622786A>C	uc003gyh.1	-	5	789	c.184T>G	c.(184-186)Tct>Gct	p.S62A	FRYL_uc003gyk.3_Missense_Mutation_p.S62A|FRYL_uc003gyl.1_Missense_Mutation_p.S113A|FRYL_uc003gym.1_Missense_Mutation_p.S62A	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAGCTCATAGAGCTTATCAAC	0.363													C	48622786	A	C	48622786	3	2	111	1	0	0	0	0	1	0	0	0	6064	304	11	5	9093	5	FRYL	4	48622786	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	38536717	48622786	142531490	21	7385											
SFRP2	6423	broad.mit.edu	37	4	154702675	154702675	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:154702675C>T	uc003inv.1	-	2	1057	c.816G>A	c.(814-816)tcG>tcA	p.S272S		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	272	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	p.S272S(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				ACCGCTTCACCGAGGTGATCA	0.592													T	154702675	C	T	154702675	2	4	111	1	0	0	0	0	0	0	0	1	14162	639	23	2		2	SFRP2	4	154702675	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	106079889	154702675	36451601	22	7386											
VCAN	1462	broad.mit.edu	37	5	82815367	82815367	+	Silent	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr5:82815367T>C	uc003kii.3	+	6	1598	c.1242T>C	c.(1240-1242)gcT>gcC	p.A414A	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.A414A|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	414	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			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)		AACCTCAGGCTATCACAGATA	0.463													C	82815367	T	C	82815367	2	2	111	1	0	0	0	0	0	0	0	1	17135	1509	53	4		4	VCAN	5	82815367	Silent	SNP	T	TCGA-12-0615-01A-01D-1492-08		82815367	98099893	23	7387											
TRIM7	81786	broad.mit.edu	37	5	180622296	180622296	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr5:180622296A>G	uc003mmz.1	-	6	1473	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	TRIM7_uc003mmv.1_Missense_Mutation_p.V287A|TRIM7_uc003mmw.1_Missense_Mutation_p.V261A|TRIM7_uc003mmy.1_Missense_Mutation_p.V261A|TRIM7_uc003mmx.1_Missense_Mutation_p.V261A	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	469	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CACGGCTCCCACCTCCAGGTC	0.672													G	180622296	A	G	180622296	3	3	111	1	0	0	0	0	1	0	0	0	16540	159	6	4	133	4	TRIM7	5	180622296	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	97806929	180622296	292964	24	7388											
ANKS1A	23294	broad.mit.edu	37	6	34935028	34935028	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:34935028G>A	uc003ojx.4	+	1	352	c.210G>A	c.(208-210)ggG>ggA	p.G70G	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvq.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	70						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGTGGAGAGGGCCAAATGTGA	0.423													A	34935028	G	A	34935028	2	1	111	1	0	0	0	0	0	0	0	1	688	1190	42	3		3	ANKS1A	6	34935028	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08		34935028	136180039	25	7389											
GLP1R	2740	broad.mit.edu	37	6	39033981	39033981	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:39033981G>A	uc003ooj.4	+	4	471	c.411G>A	c.(409-411)ccG>ccA	p.P137P	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	137				P -> R (in Ref. 4; no nucleotide entry).|SP -> WG (in Ref. 1; AAA03614).	activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	AGAGCTCCCCGGAGGAGCAGC	0.597													A	39033981	G	A	39033981	2	1	111	1	0	0	0	0	0	0	0	1	6452	1103	39	2		2	GLP1R	6	39033981	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	4098953	39033981	132081086	26	7390											
RNF217	154214	broad.mit.edu	37	6	125379096	125379096	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:125379096C>T	uc003pzr.3	+	2	954	c.420C>T	c.(418-420)tgC>tgT	p.C140C	RNF217_uc003pzs.3_Silent_p.C83C|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	83					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGATCCAGTGCCCTACCTGCC	0.388													T	125379096	C	T	125379096	2	4	111	1	0	0	0	0	0	0	0	1	13481	747	26	3		3	RNF217	6	125379096	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	86345115	125379096	45735971	27	7391											
HECA	51696	broad.mit.edu	37	6	139495543	139495543	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:139495543C>T	uc003qin.3	+	2	1619	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	445					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CATCTGTATGCCGTGTGCGTG	0.502													T	139495543	C	T	139495543	3	4	111	1	0	0	0	0	1	0	0	0	7038	739	26	3	1344	3	HECA	6	139495543	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	14116447	139495543	31619524	28	7392											
SEPT14	346288	broad.mit.edu	37	7	55874801	55874801	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:55874801G>C	uc003tqz.2	-	7	1085	c.968C>G	c.(967-969)cCa>cGa	p.P323R		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	323					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTTGTTTGGACCCACATC	0.368													C	55874801	G	C	55874801	3	2	111	1	0	0	0	0	1	0	0	0	14063	1348	47	5	342	5	SEPT14	7	55874801	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		55874801	103263862	29	7393											
TRIM4	89122	broad.mit.edu	37	7	99507253	99507253	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:99507253C>T	uc003usd.3	-	2	701	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	TRIM4_uc003use.3_Missense_Mutation_p.V142M|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Missense_Mutation_p.V142M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	168					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ATCTTGGCCACGAGATTACGC	0.418													T	99507253	C	T	99507253	3	4	111	1	0	0	0	0	1	0	0	0	16511	536	19	1	1020	1	TRIM4	7	99507253	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	43632452	99507253	59631410	30	7394											
ATP6V0A4	50617	broad.mit.edu	37	7	138447096	138447096	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:138447096G>A	uc003vuf.3	-	5	739	c.501C>T	c.(499-501)acC>acT	p.T167T	ATP6V0A4_uc003vug.3_Silent_p.T167T|ATP6V0A4_uc003vuh.3_Silent_p.T167T	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	167					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAACTTTCCGGTCATATATG	0.458													A	138447096	G	A	138447096	2	1	111	1	0	0	0	0	0	0	0	1	1170	1103	39	2		2	ATP6V0A4	7	138447096	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	38939843	138447096	20691567	31	7395											
SGK223	157285	broad.mit.edu	37	8	8239066	8239066	+	Silent	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:8239066A>G	uc003wsh.4	-	0	192	c.192T>C	c.(190-192)ccT>ccC	p.P64P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	64							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGCAGTTCTCAGGCCTGGGAG	0.652													G	8239066	A	G	8239066	2	3	111	1	0	0	0	0	0	0	0	1	14210	175	7	4		4	SGK223	8	8239066	Silent	SNP	A	TCGA-12-0615-01A-01D-1492-08		8239066	138124956	32	7396											
VCPIP1	80124	broad.mit.edu	37	8	67546807	67546807	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:67546807C>A	uc003xwn.3	-	2	3857	c.3598G>T	c.(3598-3600)Gag>Tag	p.E1200*		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	1200					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCAAGCTCCTCCACGGAATTT	0.428													A	67546807	C	A	67546807	4	1	111	1	0	0	0	0	0	1	0	0	17138	864	30	5	74	5	VCPIP1	8	67546807	Nonsense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	59307741	67546807	78817215	33	7397											
SLC25A32	81034	broad.mit.edu	37	8	104412724	104412724	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:104412724C>G	uc003yll.3	-	6	1166	c.863G>C	c.(862-864)aGa>aCa	p.R288T	SLC25A32_uc011lhr.2_Missense_Mutation_p.R156T	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	288					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TGGAGTCACTCTAATCAAATT	0.368													G	104412724	C	G	104412724	3	3	111	1	0	0	0	0	1	0	0	0	14496	913	32	5	88	5	SLC25A32	8	104412724	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	36865917	104412724	41951298	34	7398											
RECK	8434	broad.mit.edu	37	9	36060144	36060144	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:36060144C>G	uc003zyv.3	+	3	349	c.263C>G	c.(262-264)tCt>tGt	p.S88C	RECK_uc003zyu.4_Missense_Mutation_p.S88C|RECK_uc003zyw.3_5'UTR|RECK_uc010mle.1_Intron|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	88	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGAATTCATCTTTGCCAGGT	0.299													G	36060144	C	G	36060144	3	3	111	1	0	0	0	0	1	0	0	0	13200	913	32	5	277	5	RECK	9	36060144	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		36060144	105153287	35	7399											
TMEM2	23670	broad.mit.edu	37	9	74345061	74345061	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:74345061C>T	uc011lsa.1	-	8	2422	c.1882G>A	c.(1882-1884)Ggt>Agt	p.G628S	TMEM2_uc010mos.2_Missense_Mutation_p.G565S|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	628						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAGAGTACCCGGCTTGGTG	0.458													T	74345061	C	T	74345061	3	4	111	1	0	0	0	0	1	0	0	0	16118	623	22	3	2333	3	TMEM2	9	74345061	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	38284917	74345061	66868370	36	7400											
WNK2	65268	broad.mit.edu	37	9	96030055	96030055	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:96030055G>A	uc004ati.1	+	15	3724	c.3724G>A	c.(3724-3726)Gag>Aag	p.E1242K	WNK2_uc011lud.1_Missense_Mutation_p.E1242K|WNK2_uc004atj.3_Missense_Mutation_p.E1242K|WNK2_uc004atk.3_Missense_Mutation_p.E879K	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1242					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGCAGGCCGAGCGGGAAAC	0.577													A	96030055	G	A	96030055	3	1	111	1	0	0	0	0	1	0	0	0	17375	1059	37	2	3786	2	WNK2	9	96030055	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	21684994	96030055	45183376	37	7401											
NANS	54187	broad.mit.edu	37	9	100823174	100823174	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:100823174C>T	uc004ayc.3	+	1	375	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	81					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GGAAGACGTACGGGGAGCACA	0.527													T	100823174	C	T	100823174	2	4	111	1	0	0	0	0	0	0	0	1	10155	547	19	1		1	NANS	9	100823174	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	4793119	100823174	40390257	38	7402											
SVEP1	79987	broad.mit.edu	37	9	113173811	113173811	+	Silent	SNP	G	G	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:113173811G>T	uc010mtz.3	-	36	6517	c.6180C>A	c.(6178-6180)ctC>ctA	p.L2060L	SVEP1_uc010mty.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2060	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGCATTGCAGAGAAGCTGGG	0.512													T	113173811	G	T	113173811	2	4	111	1	0	0	0	0	0	0	0	1	15417	929	33	5		5	SVEP1	9	113173811	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	12350637	113173811	28039620	39	7403											
FAM13C	220965	broad.mit.edu	37	10	61023889	61023889	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr10:61023889A>G	uc010qif.1	-	8	1112	c.1046T>C	c.(1045-1047)cTg>cCg	p.L349P	FAM13C_uc010qid.2_Missense_Mutation_p.L244P|FAM13C_uc001jkn.3_Missense_Mutation_p.L327P|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Missense_Mutation_p.L244P|FAM13C_uc001jkp.3_Missense_Mutation_p.L244P	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	327										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CATCCATTTCAGGACTTCAGG	0.453													G	61023889	A	G	61023889	3	3	111	1	0	0	0	0	1	0	0	0	5454	188	7	4	801	4	FAM13C	10	61023889	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08		61023889	74510858	40	7404											
DCHS1	8642	broad.mit.edu	37	11	6655171	6655171	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:6655171C>G	uc001mem.1	-	3	2468	c.2067G>C	c.(2065-2067)gaG>gaC	p.E689D		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	689	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R688L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGCATACTCCCGTGGAT	0.557													G	6655171	C	G	6655171	3	3	111	1	0	0	0	0	1	0	0	0	4287	564	20	5	7901	5	DCHS1	11	6655171	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		6655171	128351345	41	7405											
WT1	7490	broad.mit.edu	37	11	32450114	32450114	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:32450114G>A	uc001mtn.2	-	1	888	c.698C>T	c.(697-699)tCg>tTg	p.S233L	WT1_uc001mtl.2_Missense_Mutation_p.S21L|WT1_uc001mtm.2_Missense_Mutation_p.S21L|WT1_uc001mto.2_Missense_Mutation_p.S233L|WT1_uc001mtq.2_Missense_Mutation_p.S233L|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	165					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CGCATGGTGCGAGGGCGTGTG	0.632			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				A	32450114	G	A	32450114	3	1	111	1	0	0	0	0	1	0	0	0	17405	1059	37	2	891	2	WT1	11	32450114	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	25794943	32450114	102556402	42	7406											
SLC22A25	387601	broad.mit.edu	37	11	62948177	62948177	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:62948177C>T	uc001nwr.1	-	5	1025	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.R342H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	342					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTTGGGTATGCGGAGCAATTC	0.383													T	62948177	C	T	62948177	3	4	111	1	0	0	0	0	1	0	0	0	14454	768	27	1	634	1	SLC22A25	11	62948177	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	30498063	62948177	72058339	43	7407											
ARAP1	116985	broad.mit.edu	37	11	72423533	72423533	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:72423533G>A	uc001osu.3	-	5	1017	c.828C>T	c.(826-828)gaC>gaT	p.D276D	ARAP1_uc001osv.3_Silent_p.D276D|ARAP1_uc001osr.3_Silent_p.D36D|ARAP1_uc001oss.3_Silent_p.D31D|ARAP1_uc009yth.3_Silent_p.D31D|ARAP1_uc010rre.2_Silent_p.D31D	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	276					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCCTTGGTCGTCCCCAGACA	0.682													A	72423533	G	A	72423533	2	1	111	1	0	0	0	0	0	0	0	1	838	1136	40	1		1	ARAP1	11	72423533	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	9475356	72423533	62582983	44	7408											
PRCP	5547	broad.mit.edu	37	11	82564244	82564244	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:82564244A>G	uc001ozs.3	-	2	499	c.386T>C	c.(385-387)cTc>cCc	p.L129P	PRCP_uc001ozr.3_Missense_Mutation_p.L150P	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	129					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACCAAAGGGGAGAGACTCTCC	0.363													G	82564244	A	G	82564244	3	3	111	1	0	0	0	0	1	0	0	0	12449	304	11	4	1132	4	PRCP	11	82564244	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	10140711	82564244	52442272	45	7409											
TMEM19	55266	broad.mit.edu	37	12	72092727	72092727	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:72092727G>A	uc001sws.3	+	4	1268	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	TMEM19_uc001swr.1_Missense_Mutation_p.G215S	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	229						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CAGTCTCCTTGGTGGTACCTT	0.443													A	72092727	G	A	72092727	3	1	111	1	0	0	0	0	1	0	0	0	16110	1348	47	3	703	3	TMEM19	12	72092727	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		72092727	61759168	46	7410											
SOCS2	8835	broad.mit.edu	37	12	93968661	93968661	+	Silent	SNP	C	C	T	rs148086876		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:93968661C>T	uc001tcw.1	+	2	893	c.303C>T	c.(301-303)gaC>gaT	p.D101D	SOCS2_uc021rbx.1_Silent_p.D101D|SOCS2_uc001tcy.1_Silent_p.D101D|SOCS2_uc001tcz.3_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	Homo sapiens suppressor of cytokine signaling 2 (SOCS2), mRNA.	101	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AATACCAAGACGGAAAATTCA	0.378													T	93968661	C	T	93968661	2	4	111	1	0	0	0	0	0	0	0	1	14914	535	19	1		1	SOCS2	12	93968661	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	21875934	93968661	39883234	47	7411											
RIC8B	55188	broad.mit.edu	37	12	107208579	107208579	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:107208579T>G	uc001tlw.3	+	2	363	c.238T>G	c.(238-240)Tta>Gta	p.L80V	RIC8B_uc001tlx.3_Missense_Mutation_p.L80V|RIC8B_uc001tly.3_Missense_Mutation_p.L40V|RIC8B_uc001tlz.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	80					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAAAAAGGTTTTAGTTCCTGT	0.413													G	107208579	T	G	107208579	3	3	111	1	0	0	0	0	1	0	0	0	13356	1838	64	5	248	5	RIC8B	12	107208579	Missense_Mutation	SNP	T	TCGA-12-0615-01A-01D-1492-08	13239918	107208579	26643316	48	7412											
MLXIP	22877	broad.mit.edu	37	12	122613736	122613736	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:122613736G>A	uc001ubq.3	+	3	767	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	MLXIP_uc001ubr.3_5'UTR|MLXIP_uc001ubs.1_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	220	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	p.R220Q(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATTGTGATCCGGGAGTATCAC	0.557													A	122613736	G	A	122613736	3	1	111	1	0	0	0	0	1	0	0	0	9636	1116	39	2	673	2	MLXIP	12	122613736	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	15405157	122613736	11238159	49	7413											
NUBP1	4682	broad.mit.edu	37	16	10837884	10837884	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr16:10837884G>A	uc002daa.1	+	1	109	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	NUBP1_uc010bum.1_5'UTR|NUBP1_uc002dab.1_Missense_Mutation_p.R29Q	NM_002484	NP_002475	P53384	NUBP1_HUMAN	Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.	29					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CCCAACCAGCGGCTGTGCGCT	0.657													A	10837884	G	A	10837884	3	1	111	1	0	0	0	0	1	0	0	0	10715	1116	39	2	92	2	NUBP1	16	10837884	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		10837884	79516869	50	7414											
C17orf74	201243	broad.mit.edu	37	17	7330635	7330635	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:7330635C>T	uc002ggw.3	+	2	1398	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	442						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCCCCTCCCCCGACCATGTTT	0.647													T	7330635	C	T	7330635	3	4	111	1	0	0	0	0	1	0	0	0	1879	652	23	2	1335	2	C17orf74	17	7330635	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		7330635	73864575	51	7415											
PIK3R5	23533	broad.mit.edu	37	17	8792082	8792082	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:8792082G>A	uc002glt.3	-	9	1089	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	PIK3R5_uc010vuz.2_Missense_Mutation_p.A341V|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	341				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATCTCTCTCGGCACAGTGCCC	0.617													A	8792082	G	A	8792082	3	1	111	1	0	0	0	0	1	0	0	0	11922	1203	42	3	1660	3	PIK3R5	17	8792082	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	1461447	8792082	72403128	52	7416											
FBXW10	10517	broad.mit.edu	37	17	18651317	18651317	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:18651317C>T	uc002gul.3	+	1	801	c.569C>T	c.(568-570)gCg>gTg	p.A190V	FBXW10_uc002guj.3_Missense_Mutation_p.A190V|FBXW10_uc002guk.3_Missense_Mutation_p.A190V|FBXW10_uc010cqh.2_Missense_Mutation_p.A190V	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	190										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						TCCAAGTCTGCGACCTCACAA	0.478													T	18651317	C	T	18651317	3	4	111	1	0	0	0	0	1	0	0	0	5763	768	27	1	575	1	FBXW10	17	18651317	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	9859235	18651317	62543893	53	7417											
PIPOX	51268	broad.mit.edu	37	17	27380567	27380567	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:27380567G>C	uc002hdr.1	+	3	940	c.614G>C	c.(613-615)tGg>tCg	p.W205S		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	205					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCAGGTCCTTGGACCAACCAG	0.567													C	27380567	G	C	27380567	3	2	111	1	0	0	0	0	1	0	0	0	11943	1357	47	5	628	5	PIPOX	17	27380567	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	8729250	27380567	53814643	54	7418											
SLC35B1	10237	broad.mit.edu	37	17	47780551	47780551	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:47780551T>C	uc002iph.1	-	7	849	c.762_splice	c.e7+1	p.Q254_splice	SLC35B1_uc002ipj.1_Splice_Site_p.Q130_splice	NM_005827	NP_005818	P78383	S35B1_HUMAN	Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.	254						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGCACTCACCTGACCCAGGGC	0.547													C	47780551	T	C	47780551	3	2	111	1	0	0	0	0	1	0	0	0	14575	1594	55	4	219	4	SLC35B1	17	47780551	Missense_Mutation	SNP	T	TCGA-12-0615-01A-01D-1492-08	20399984	47780551	33414659	55	7419											
KCNH6	81033	broad.mit.edu	37	17	61613122	61613122	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:61613122G>A	uc002jay.3	+	5	1274	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	KCNH6_uc002jax.1_Silent_p.A398A|KCNH6_uc010wpl.2_Silent_p.A275A|KCNH6_uc010wpm.2_Silent_p.A398A|KCNH6_uc002jaz.1_Silent_p.A398A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	398					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGTATGGGGCGGCTGTGCTCT	0.617													A	61613122	G	A	61613122	2	1	111	1	0	0	0	0	0	0	0	1	8036	1103	39	2		2	KCNH6	17	61613122	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	13832571	61613122	19582088	56	7420											
TMEM105	284186	broad.mit.edu	37	17	79287573	79287573	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:79287573C>T	uc002kad.2	-	2	818	c.268G>A	c.(268-270)Ggg>Agg	p.G90R		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	Homo sapiens transmembrane protein 105 (TMEM105), mRNA.	90						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CCAGACTGCCCCCAGGCAGGC	0.662													T	79287573	C	T	79287573	3	4	111	1	0	0	0	0	1	0	0	0	16016	623	22	3	125	3	TMEM105	17	79287573	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	17674451	79287573	1907637	57	7421											
LAMA1	284217	broad.mit.edu	37	18	7010303	7010303	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr18:7010303G>C	uc002knm.3	-	25	3863	c.3769C>G	c.(3769-3771)Caa>Gaa	p.Q1257E	LAMA1_uc010wzj.2_Missense_Mutation_p.Q733E	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1257	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGAGAACTTGAGGCTCAAAA	0.463													C	7010303	G	C	7010303	3	2	111	1	0	0	0	0	1	0	0	0	8605	1299	45	5	5610	5	LAMA1	18	7010303	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		7010303	71066945	58	7422											
MIDN	90007	broad.mit.edu	37	19	1250466	1250466	+	Silent	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:1250466C>G	uc002lrp.3	+	1	686	c.171C>G	c.(169-171)cgC>cgG	p.R57R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	57	Ubiquitin-like.					nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		AGGGGCTGCGCAAGCGGTTGT	0.736													G	1250466	C	G	1250466	2	3	111	1	0	0	0	0	0	0	0	1	9579	697	25	5		5	MIDN	19	1250466	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08		1250466	57878517	59	7423											
RAVER1	125950	broad.mit.edu	37	19	10444148	10444148	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:10444148C>T	uc002moa.3	-	0	167	c.87G>A	c.(85-87)ccG>ccA	p.P29P		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	12						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TAGGGCTCAGCGGGGGCCGGT	0.692													T	10444148	C	T	10444148	2	4	111	1	0	0	0	0	0	0	0	1	13094	755	27	1		1	RAVER1	19	10444148	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	9193682	10444148	48684835	60	7424											
USHBP1	83878	broad.mit.edu	37	19	17366376	17366376	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:17366376G>A	uc002nfs.1	-	9	1623	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	USHBP1_uc002nfr.1_Missense_Mutation_p.R130W|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R440W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	504							PDZ domain binding			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						TTCTCACGCCGCACCAGCTGC	0.647													A	17366376	G	A	17366376	3	1	111	1	0	0	0	0	1	0	0	0	17034	1086	38	1	617	1	USHBP1	19	17366376	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	6922228	17366376	41762607	61	7425											
DUXA	503835	broad.mit.edu	37	19	57669765	57669766	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:57669765_57669766insT	uc002qoa.1	-	3	413_414	c.368_369insA	c.(367-369)aacfs	p.N123fs		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		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;0.0123)		CAGGATATGGGTTTTTCATAAA	0.47													T	57669766	-	T	57669765	7	5	111	1	0	1	1	0	0	0	0	0	4834	1252	44	0	257	0	DUXA	19	57669765	Frame_Shift_Ins	INS	-	TCGA-12-0615-01A-01D-1492-08	40303389	57669765	1459218	62	7426											
PROKR2	128674	broad.mit.edu	37	20	5282952	5282952	+	Missense_Mutation	SNP	C	C	T	rs139399061	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:5282952C>T	uc010zqw.2	-	1	897	c.889G>A	c.(889-891)Gtt>Att	p.V297I	PROKR2_uc010zqx.2_Missense_Mutation_p.V297I|PROKR2_uc010zqy.2_Missense_Mutation_p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	297						integral to membrane|plasma membrane	neuropeptide Y receptor activity			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						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)			T	5282952	C	T	5282952	3	4	111	1	0	0	0	0	1	0	0	0	12553	536	19	1	268	1	PROKR2	20	5282952	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		5282952	57742568	63	7427											
PCSK2	5126	broad.mit.edu	37	20	17389925	17389925	+	Silent	SNP	C	C	T	rs139215444	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:17389925C>T	uc002wpm.3	+	5	915	c.561C>T	c.(559-561)taC>taT	p.Y187Y	PCSK2_uc002wpl.3_Silent_p.Y168Y|PCSK2_uc010zrm.2_Silent_p.Y152Y	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	187	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCAAGTTACGACTTCAGCA	0.483													T	17389925	C	T	17389925	2	4	111	1	0	0	0	0	0	0	0	1	11601	547	19	1		1	PCSK2	20	17389925	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	12106973	17389925	45635595	64	7428											
OPRL1	4987	broad.mit.edu	37	20	62729348	62729348	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:62729348G>A	uc002yic.3	+	3	846	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	OPRL1_uc002yid.3_Missense_Mutation_p.A143T|OPRL1_uc021wgs.1_Missense_Mutation_p.A143T|OPRL1_uc002yif.4_Missense_Mutation_p.A138T	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	143					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)					CACCCTAACTGCCATGAGTGT	0.572													A	62729348	G	A	62729348	3	1	111	1	0	0	0	0	1	0	0	0	10886	1319	46	3	433	3	OPRL1	20	62729348	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	45339423	62729348	296172	65	7429											
TMPRSS15	5651	broad.mit.edu	37	21	19775931	19775931	+	Silent	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:19775931C>T	uc002ykw.3	-	0	40	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	3					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGCCTCTTTTCGACCCCATTT	0.353													T	19775931	C	T	19775931	2	4	111	1	0	0	0	0	0	0	0	1	16243	871	31	2		2	TMPRSS15	21	19775931	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08		19775931	28353964	66	7430											
CLDN17	26285	broad.mit.edu	37	21	31538845	31538845	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:31538845T>C	uc011acv.2	-	0	127	c.91A>G	c.(91-93)Aga>Gga	p.R31G		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	31					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GCTGATACTCTCCACTGAGGC	0.507													C	31538845	T	C	31538845	3	2	111	1	0	0	0	0	1	0	0	0	3478	1559	54	4	587	4	CLDN17	21	31538845	Missense_Mutation	SNP	T	TCGA-12-0615-01A-01D-1492-08	11762914	31538845	16591050	67	7431											
MX2	4600	broad.mit.edu	37	21	42762561	42762561	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:42762561G>C	uc002yzf.1	+	5	906	c.802G>C	c.(802-804)Gtg>Ctg	p.V268L	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	268					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.V268M(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCCTGTAACGTGGACATTGC	0.557													C	42762561	G	C	42762561	3	2	111	1	0	0	0	0	1	0	0	0	9998	1145	40	5	820	5	MX2	21	42762561	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	11223716	42762561	5367334	68	7432											
CELSR1	9620	broad.mit.edu	37	22	46930786	46930786	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr22:46930786G>A	uc003bhw.1	-	0	2282	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	761	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCTGTCACCGCCAGCACGTA	0.602													A	46930786	G	A	46930786	3	1	111	1	0	0	0	0	1	0	0	0	3221	1087	38	1	6902	1	CELSR1	22	46930786	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		46930786	4373780	69	7433											
MXRA5	25878	broad.mit.edu	37	X	3228536	3228536	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:3228536G>T	uc004crg.4	-	6	7865	c.7708C>A	c.(7708-7710)Ccg>Acg	p.P2570T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2570	Ig-like C2-type 10.					extracellular region				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)				CTGGGTGTCGGGGTCCCCGCG	0.622													T	3228536	G	T	3228536	3	4	111	1	0	0	0	0	1	0	0	0	10003	1232	43	5	782	5	MXRA5	23	3228536	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		3228536	152042024	70	7434											
WWC3	55841	broad.mit.edu	37	X	10066544	10066544	+	Splice_Site	SNP	A	A	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:10066544A>T	uc004csx.4	+	8	856	c.658_splice	c.e8-2	p.F220_splice	WWC3_uc010nds.3_Splice_Site|WWC3_uc010ndt.3_Splice_Site	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	220										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGTTCCGGAAAGTTTGTCTTT	0.348													T	10066544	A	T	10066544	5	4	111	1	0	0	0	0	0	0	1	0	17410	86	3	5	682	5	WWC3	23	10066544	Splice_Site	SNP	A	TCGA-12-0615-01A-01D-1492-08	6838008	10066544	145204016	71	7435											
IL1RAPL1	11141	broad.mit.edu	37	X	29973596	29973596	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:29973596C>G	uc004dby.2	+	10	2258	c.1750C>G	c.(1750-1752)Ctg>Gtg	p.L584V		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	584	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTTTGGGGAGCTGCAGACTGT	0.507													G	29973596	C	G	29973596	3	3	111	1	0	0	0	0	1	0	0	0	7661	796	28	5	1788	5	IL1RAPL1	23	29973596	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	19907052	29973596	125296964	72	7436											
CXorf59	286464	broad.mit.edu	37	X	36103484	36103484	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:36103484C>T	uc004ddk.1	+	4	656	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	157						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CAAAAGTTTTCCAGACAGAAT	0.328													T	36103484	C	T	36103484	3	4	111	1	0	0	0	0	1	0	0	0	4115	855	30	3	484	3	CXorf59	23	36103484	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	6129888	36103484	119167076	73	7437											
TEX13A	56157	broad.mit.edu	37	X	104463874	104463874	+	Silent	SNP	G	G	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:104463874G>A	uc004ema.3	-	3	1108	c.996C>T	c.(994-996)tcC>tcT	p.S332S	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.P335L	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	334						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCCAGTCGGAAGGCAGCT	0.537													A	104463874	G	A	104463874	2	1	111	1	0	0	0	0	0	0	0	1	15773	1116	39	2		2	TEX13A	23	104463874	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	68360390	104463874	50806686	74	7438											
ODZ1	10178	broad.mit.edu	37	X	123514489	123514489	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:123514489C>A	uc010nqy.3	-	31	8160	c.8096G>T	c.(8095-8097)gGt>gTt	p.G2699V	ODZ1_uc011muj.2_Missense_Mutation_p.G2698V|ODZ1_uc004euj.3_Missense_Mutation_p.G2692V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2692					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CCCATCGTAACCTTGTACCCG	0.463													A	123514489	C	A	123514489	3	1	111	1	0	0	0	0	1	0	0	0	10834	507	18	5	106	5	ODZ1	23	123514489	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	19050615	123514489	31756071	75	7439											
PDZD4	57595	broad.mit.edu	37	X	153069052	153069052	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:153069052C>T	uc004fja.1	-	7	2334	c.2084G>A	c.(2083-2085)cGt>cAt	p.R695H	PDZD4_uc004fiy.1_Missense_Mutation_p.R614H|PDZD4_uc004fiz.1_Missense_Mutation_p.R689H|PDZD4_uc004fix.2_Missense_Mutation_p.R593H|PDZD4_uc011mze.1_Missense_Mutation_p.R580H|PDZD4_uc022chy.1_Missense_Mutation_p.R68H	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	689						cell cortex				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)					CCGCTGCTCACGGGCCCGGAT	0.647													T	153069052	C	T	153069052	3	4	111	1	0	0	0	0	1	0	0	0	11703	536	19	1	247	1	PDZD4	23	153069052	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	29554563	153069052	2201508	76	7440											
HSPG2	3339	broad.mit.edu	37	1	22186712	22186712	+	Missense_Mutation	SNP	C	C	T	rs143523507		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:22186712C>T	uc009vqd.3	-	39	5015	c.4975G>A	c.(4975-4977)Gtg>Atg	p.V1659M	HSPG2_uc001bfj.3_Missense_Mutation_p.V1658M	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1658	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTTACCCACGTAACCTGGG	0.637													T	22186712	C	T	22186712	3	4	112	1	0	0	0	0	1	0	0	0	7430	536	19	1	8435	1	HSPG2	1	22186712	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08		22186712	227063909	1	7441											
C1orf130	400746	broad.mit.edu	37	1	24927454	24927454	+	Missense_Mutation	SNP	G	G	A	rs142867139	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:24927454G>A	uc001bjk.2	+	2	207	c.106G>A	c.(106-108)Gtt>Att	p.V36I		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	Homo sapiens chromosome 1 open reading frame 130 (C1orf130), mRNA.	36	Poly-Val.					integral to membrane				large_intestine(1)	1		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		TGTTGCTGCCGTTGTGGTGGT	0.552													A	24927454	G	A	24927454	3	1	112	1	0	0	0	0	1	0	0	0	1997	1145	40	1	112	1	C1orf130	1	24927454	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	2740742	24927454	224323167	2	7442											
TTC39A	22996	broad.mit.edu	37	1	51768762	51768762	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:51768762C>T	uc001csl.3	-	8	970	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	TTC39A_uc001csk.3_Missense_Mutation_p.V254M|TTC39A_uc010ond.2_Missense_Mutation_p.V226M|TTC39A_uc010one.2_Missense_Mutation_p.V253M|TTC39A_uc010onf.2_Missense_Mutation_p.V257M|TTC39A_uc001csn.3_Missense_Mutation_p.V288M|TTC39A_uc001cso.1_Missense_Mutation_p.V285M|TTC39A_uc009vyy.1_Missense_Mutation_p.V226M	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	289							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CTACCGAGCACGAAGGTGAGG	0.627													T	51768762	C	T	51768762	3	4	112	1	0	0	0	0	1	0	0	0	16704	536	19	1	1016	1	TTC39A	1	51768762	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	26841308	51768762	197481859	3	7443											
DMRTB1	63948	broad.mit.edu	37	1	53932300	53932300	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:53932300C>G	uc001cvq.1	+	3	1049	c.994C>G	c.(994-996)Ccc>Gcc	p.P332A		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	332					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GTCGGGTGAGCCCAGCCAGCC	0.552													G	53932300	C	G	53932300	3	3	112	1	0	0	0	0	1	0	0	0	4590	739	26	5	1008	5	DMRTB1	1	53932300	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	2163538	53932300	195318321	4	7444											
S100A7A	338324	broad.mit.edu	37	1	153391728	153391728	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:153391728C>T	uc001fbt.1	+	2	306	c.249C>T	c.(247-249)gcC>gcT	p.A83A		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	83	EF-hand 2.					cytoplasm	calcium ion binding	p.A83A(4)		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)			GAGACATAGCCGCAGACTACC	0.522													T	153391728	C	T	153391728	2	4	112	1	0	0	0	0	0	0	0	1	13784	639	23	2		2	S100A7A	1	153391728	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	99459428	153391728	95858893	5	7445											
FDPS	2224	broad.mit.edu	37	1	155287783	155287783	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:155287783C>T	uc001fkc.2	+	4	751	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	FDPS_uc021paw.1_Missense_Mutation_p.R112C|FDPS_uc001fkd.2_Missense_Mutation_p.R112C|FDPS_uc021pax.1_Missense_Mutation_p.R7C|FDPS_uc001fke.2_Missense_Mutation_p.R178C|RUSC1-AS1_uc001fkh.1_Non-coding_Transcript|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	178					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ATCCCTTACCCGCCGGGGACA	0.512													T	155287783	C	T	155287783	3	4	112	1	0	0	0	0	1	0	0	0	5803	652	23	2	546	2	FDPS	1	155287783	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	1896055	155287783	93962838	6	7446											
ADCY10	55811	broad.mit.edu	37	1	167806486	167806486	+	Splice_Site	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:167806486C>T	uc001ger.3	-	22	3375	c.3077_splice	c.e22+1	p.S1026_splice	ADCY10_uc010plj.2_Splice_Site_p.S873_splice|ADCY10_uc009wvk.3_Splice_Site_p.S934_splice	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1026					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TATGCCTCTACCTGCGATTTT	0.348													T	167806486	C	T	167806486	5	4	112	1	0	0	0	0	0	0	1	0	293	521	18	3	1802	3	ADCY10	1	167806486	Splice_Site	SNP	C	TCGA-12-0616-01A-01D-1492-08	12518703	167806486	81444135	7	7447											
TMEM63A	9725	broad.mit.edu	37	1	226040425	226040425	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:226040425G>A	uc001hpm.2	-	19	2465	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	615						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AAGACACACAGCATCCATGCA	0.552													A	226040425	G	A	226040425	2	1	112	1	0	0	0	0	0	0	0	1	16187	962	34	3		3	TMEM63A	1	226040425	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	58233939	226040425	23210196	8	7448											
VIT	5212	broad.mit.edu	37	2	37035618	37035618	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:37035618G>A	uc002rpl.3	+	14	1695	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	VIT_uc002rpm.3_Missense_Mutation_p.V450M|VIT_uc010ezv.3_Missense_Mutation_p.V428M|VIT_uc010ezw.3_Missense_Mutation_p.V429M	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	450	VWFA 1.					proteinaceous extracellular matrix				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)				CTTCTAGGCCGTGTGCAGAAC	0.602													A	37035618	G	A	37035618	3	1	112	1	0	0	0	0	1	0	0	0	17168	1145	40	1	1572	1	VIT	2	37035618	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		37035618	206163755	9	7449											
NCKAP5	344148	broad.mit.edu	37	2	133541700	133541700	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:133541700G>A	uc002ttp.3	-	13	3058	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	895							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTTGACCGTGACCCTGGAGT	0.607													A	133541700	G	A	133541700	3	1	112	1	0	0	0	0	1	0	0	0	10223	1294	45	3	3073	3	NCKAP5	2	133541700	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	96506082	133541700	109657673	10	7450											
NEB	4703	broad.mit.edu	37	2	152477436	152477436	+	Silent	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:152477436A>G	uc021vrb.1	-	66	9857	c.9828T>C	c.(9826-9828)agT>agC	p.S3276S	NEB_uc002txu.3_Silent_p.S3519S|NEB_uc021vrc.1_Silent_p.S3519S|NEB_uc010fnx.3_Silent_p.S3264S|NEB_uc021vrd.1_Silent_p.S3276S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3276					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTACATCACTGGCAATAT	0.473													G	152477436	A	G	152477436	2	3	112	1	0	0	0	0	0	0	0	1	10302	156	6	4		4	NEB	2	152477436	Silent	SNP	A	TCGA-12-0616-01A-01D-1492-08	18935736	152477436	90721937	11	7451											
GAD1	2571	broad.mit.edu	37	2	171705817	171705817	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:171705817C>T	uc002ugi.3	+	11	1563	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F	GAD1_uc010fqc.3_5'UTR	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	381					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGGTGGGCTGCTCATGTCCAG	0.532													T	171705817	C	T	171705817	3	4	112	1	0	0	0	0	1	0	0	0	6179	797	28	3	1224	3	GAD1	2	171705817	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	19228381	171705817	71493556	12	7452											
DNAH1	25981	broad.mit.edu	37	3	52409985	52409986	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr3:52409985_52409986insA	uc011bef.2	+	45	7435_7436	c.7174_7175insA	c.(7174-7176)gaafs	p.E2392fs		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2392	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTCCTTGGAGAAAAAAGCTAC	0.609													A	52409986	-	A	52409985	7	5	112	1	0	1	1	0	0	0	0	0	4597	943	33	0	7352	0	DNAH1	3	52409985	Frame_Shift_Ins	INS	-	TCGA-12-0616-01A-01D-1492-08		52409985	145612445	13	7453											
CASR	846	broad.mit.edu	37	3	121980782	121980782	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr3:121980782C>T	uc003eew.4	+	3	1338	c.900C>T	c.(898-900)gcC>gcT	p.A300A	CASR_uc003eev.4_Silent_p.A300A	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	300					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGCCTGGGCCAGCTCCTCCC	0.602													T	121980782	C	T	121980782	2	4	112	1	0	0	0	0	0	0	0	1	2682	581	21	3		3	CASR	3	121980782	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	69570797	121980782	76041648	14	7454											
FRYL	285527	broad.mit.edu	37	4	48559631	48559631	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr4:48559631T>G	uc003gyh.1	-	33	4569	c.3964A>C	c.(3964-3966)Aaa>Caa	p.K1322Q	FRYL_uc003gyk.3_Missense_Mutation_p.K1322Q|FRYL_uc003gyg.1_Missense_Mutation_p.K18Q|FRYL_uc003gyi.1_Missense_Mutation_p.K211Q	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGGAGAGGTTTTAAGTCCACC	0.512													G	48559631	T	G	48559631	3	3	112	1	0	0	0	0	1	0	0	0	6064	1850	64	5	5201	5	FRYL	4	48559631	Missense_Mutation	SNP	T	TCGA-12-0616-01A-01D-1492-08		48559631	142594645	15	7455											
KIT	3815	broad.mit.edu	37	4	55592080	55592080	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr4:55592080G>A	uc010igr.3	+	8	1491	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	KIT_uc010igs.3_Silent_p.P468P|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.2_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	468	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.(449_514)?(42)|p.P468P(2)|p.P468L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCCACCGTTTGGAAAGC	0.453		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				A	55592080	G	A	55592080	2	1	112	1	0	0	0	0	0	0	0	1	8329	1132	40	1		1	KIT	4	55592080	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	7032449	55592080	135562196	16	7456											
GPR98	84059	broad.mit.edu	37	5	90136528	90136528	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr5:90136528C>T	uc003kju.3	+	77	16841	c.16745C>T	c.(16744-16746)aCg>aTg	p.T5582M	GPR98_uc003kjt.3_Missense_Mutation_p.T3288M|GPR98_uc003kjw.3_Missense_Mutation_p.T1243M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5582					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCATCCTAACGCCAGAGACA	0.423													T	90136528	C	T	90136528	3	4	112	1	0	0	0	0	1	0	0	0	6721	536	19	1	17055	1	GPR98	5	90136528	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08		90136528	90778732	17	7457											
OR2V2	285659	broad.mit.edu	37	5	180582407	180582407	+	Silent	SNP	C	C	T	rs149585637	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr5:180582407C>T	uc011dhj.2	+	0	465	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGGATAATCGATGGCTTGA	0.493													T	180582407	C	T	180582407	2	4	112	1	0	0	0	0	0	0	0	1	11031	874	31	2		2	OR2V2	5	180582407	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	90445879	180582407	332853	18	7458											
TNXB	7148	broad.mit.edu	37	6	32013041	32013041	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr6:32013041G>T	uc003nzl.2	-	31	10865	c.10663C>A	c.(10663-10665)Ccc>Acc	p.P3555T	TNXB_uc003nzg.1_5'UTR|TNXB_uc003nzh.1_Missense_Mutation_p.P24T	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3602	Fibronectin type-III 27.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTAGGCGGGGCTCTTCAGGA	0.642													T	32013041	G	T	32013041	3	4	112	1	0	0	0	0	1	0	0	0	16343	1203	42	5	4102	5	TNXB	6	32013041	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		32013041	139102026	19	7459											
UTRN	7402	broad.mit.edu	37	6	145115044	145115044	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr6:145115044A>G	uc003qkt.3	+	61	9087	c.8995A>G	c.(8995-8997)Atc>Gtc	p.I2999V		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2999	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCATGATGCCATCCAGATCCC	0.498													G	145115044	A	G	145115044	3	3	112	1	0	0	0	0	1	0	0	0	17100	217	8	4	9241	4	UTRN	6	145115044	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08	113102003	145115044	26000023	20	7460											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	112	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		55233043	103905620	21	7461											
PHTF2	57157	broad.mit.edu	37	7	77552026	77552026	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:77552026G>A	uc003ugs.4	+	9	1176	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	PHTF2_uc003ugo.4_Silent_p.V312V|PHTF2_uc003ugp.3_Silent_p.V312V|PHTF2_uc010ldv.3_Silent_p.V312V|PHTF2_uc003ugq.4_Silent_p.V312V|PHTF2_uc003ugr.4_Silent_p.V316V|PHTF2_uc003ugt.4_Silent_p.V316V|PHTF2_uc003ugu.4_Silent_p.V312V|PHTF2_uc022agp.1_Silent_p.V350V|PHTF2_uc003ugv.3_Silent_p.V175V|PHTF2_uc010ldw.2_Silent_p.V175V	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTCGTCATGTGGACAGGACTT	0.398													A	77552026	G	A	77552026	2	1	112	1	0	0	0	0	0	0	0	1	11863	1335	47	3		3	PHTF2	7	77552026	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	22318983	77552026	81586637	22	7462											
TRRAP	8295	broad.mit.edu	37	7	98522846	98522846	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:98522846G>C	uc003upp.3	+	21	3144	c.2935G>C	c.(2935-2937)Gac>Cac	p.D979H	TRRAP_uc011kis.2_Missense_Mutation_p.D979H|TRRAP_uc003upr.3_Missense_Mutation_p.D671H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	979					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCCTGGAGGACAACAAGCA	0.567													C	98522846	G	C	98522846	3	2	112	1	0	0	0	0	1	0	0	0	16598	1174	41	5	3017	5	TRRAP	7	98522846	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	20970820	98522846	60615817	23	7463											
PMPCB	9512	broad.mit.edu	37	7	102949403	102949403	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:102949403G>A	uc003vbk.1	+	7	888	c.854G>A	c.(853-855)cGt>cAt	p.R285H	PMPCB_uc010liu.1_Missense_Mutation_p.R285H|PMPCB_uc003vbl.3_Missense_Mutation_p.R285H|PMPCB_uc011kll.1_Missense_Mutation_p.R180H|PMPCB_uc011klm.1_Missense_Mutation_p.R160H	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	285					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACTAGATTCGTGTGAGGGAT	0.408													A	102949403	G	A	102949403	3	1	112	1	0	0	0	0	1	0	0	0	12141	1145	40	1	884	1	PMPCB	7	102949403	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	4426557	102949403	56189260	24	7464											
FLNC	2318	broad.mit.edu	37	7	128494166	128494166	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:128494166A>G	uc003vnz.4	+	39	6832	c.6623A>G	c.(6622-6624)gAg>gGg	p.E2208G	FLNC_uc003voa.4_Missense_Mutation_p.E2175G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2208	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			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						GTGCGGGTGGAGGAGTCCACC	0.687													G	128494166	A	G	128494166	3	3	112	1	0	0	0	0	1	0	0	0	5935	304	11	4	6781	4	FLNC	7	128494166	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08	25544763	128494166	30644497	25	7465											
FRMD3	257019	broad.mit.edu	37	9	85958187	85958187	+	Silent	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:85958187A>G	uc004ams.2	-	4	592	c.390T>C	c.(388-390)ctT>ctC	p.L130L	FRMD3_uc004amr.1_Silent_p.L130L|FRMD3_uc022bja.1_Silent_p.L86L	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	130	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTTTAATCTGAAGGTATAAAA	0.448													G	85958187	A	G	85958187	2	3	112	1	0	0	0	0	0	0	0	1	6050	233	9	4		4	FRMD3	9	85958187	Silent	SNP	A	TCGA-12-0616-01A-01D-1492-08		85958187	55255244	26	7466											
LAMC3	10319	broad.mit.edu	37	9	133942520	133942520	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:133942520G>A	uc004caa.1	+	13	2619	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	841	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACCACGGGTGACCACTGTGA	0.642													A	133942520	G	A	133942520	3	1	112	1	0	0	0	0	1	0	0	0	8616	1290	45	3	2575	3	LAMC3	9	133942520	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	47984333	133942520	7270911	27	7467											
SURF4	6836	broad.mit.edu	37	9	136230531	136230531	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:136230531G>A	uc004cdj.3	-	5	778	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SURF4_uc011mda.2_Silent_p.N207N|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_Silent_p.N173N|SURF4_uc011mdc.2_Silent_p.N173N	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	216						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAATATACGTTGATGGCAA	0.478													A	136230531	G	A	136230531	2	1	112	1	0	0	0	0	0	0	0	1	15402	1136	40	1		1	SURF4	9	136230531	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	2288011	136230531	4982900	28	7468											
OR52M1	119772	broad.mit.edu	37	11	4566682	4566682	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:4566682T>C	uc010qyf.2	+	0	262	c.262T>C	c.(262-264)Tgg>Cgg	p.W88R		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W88*(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAATCTTCTGGTTCGGTGC	0.517													C	4566682	T	C	4566682	3	2	112	1	0	0	0	0	1	0	0	0	11126	1580	55	4	264	4	OR52M1	11	4566682	Missense_Mutation	SNP	T	TCGA-12-0616-01A-01D-1492-08		4566682	130439834	29	7469											
OR56A3	390083	broad.mit.edu	37	11	5968802	5968802	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:5968802G>A	uc010qzt.2	+	0	226	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGACATCGTGCTCTGCCT	0.587													A	5968802	G	A	5968802	3	1	112	1	0	0	0	0	1	0	0	0	11134	1145	40	1	228	1	OR56A3	11	5968802	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	1402120	5968802	129037714	30	7470											
OR8H2	390151	broad.mit.edu	37	11	55872670	55872670	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:55872670G>A	uc010riy.2	+	0	152	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTGATAATCCGCCTGGACCTC	0.428										HNSCC(53;0.14)			A	55872670	G	A	55872670	3	1	112	1	0	0	0	0	1	0	0	0	11238	1087	38	1	154	1	OR8H2	11	55872670	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	49903868	55872670	79133846	31	7471											
SF3B2	10992	broad.mit.edu	37	11	65830517	65830517	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:65830517A>G	uc001ogy.1	+	16	2055	c.2015A>G	c.(2014-2016)aAa>aGa	p.K672R		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	672					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGCTGGGGCAAACCTCCAGTG	0.498													G	65830517	A	G	65830517	3	3	112	1	0	0	0	0	1	0	0	0	14151	14	1	4	2081	4	SF3B2	11	65830517	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08	9957847	65830517	69175999	32	7472											
MMP12	4321	broad.mit.edu	37	11	102743841	102743841	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:102743841C>G	uc001phk.3	-	2	200	c.103_splice	c.e2-1	p.R35_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	35					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTCTAAGTATCTCTGGAAAAA	0.328													G	102743841	C	G	102743841	3	3	112	1	0	0	0	0	1	0	0	0	9651	927	32	5	1343	5	MMP12	11	102743841	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	36913324	102743841	32262675	33	7473											
LPAR5	57121	broad.mit.edu	37	12	6729589	6729589	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:6729589G>A	uc009zer.2	-	1	1107	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	LPAR5_uc001qps.2_Missense_Mutation_p.R276C|LPAR5_uc010sff.1_Missense_Mutation_p.R276C|LPAR5_uc021qub.1_Missense_Mutation_p.R276C	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	276						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGCACCCCGCGCACGCGATCG	0.682													A	6729589	G	A	6729589	3	1	112	1	0	0	0	0	1	0	0	0	8908	1087	38	1	296	1	LPAR5	12	6729589	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		6729589	127122306	34	7474											
PDE3A	5139	broad.mit.edu	37	12	20807040	20807040	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:20807040G>A	uc001reh.2	+	14	3125	c.3085G>A	c.(3085-3087)Gac>Aac	p.D1029N	PDE3A_uc021qwa.1_Missense_Mutation_p.D707N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1029	Catalytic (By similarity).				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			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)	ATGGGTGGAAGACAGCGATGA	0.478													A	20807040	G	A	20807040	3	1	112	1	0	0	0	0	1	0	0	0	11637	942	33	3	3143	3	PDE3A	12	20807040	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	14077451	20807040	113044855	35	7475											
KRT81	3887	broad.mit.edu	37	12	52685111	52685112	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:52685111_52685112insG	uc001sab.3	-	0	188_189	c.138_139insC	c.(136-141)ggcagcfs	p.G46fs	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	46	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACGCTGTGGCTGCCGAAGCCCC	0.748													G	52685112	-	G	52685111	7	5	112	1	0	1	1	0	0	0	0	0	8495	1580	55	0	1414	0	KRT81	12	52685111	Frame_Shift_Ins	INS	-	TCGA-12-0616-01A-01D-1492-08	31878071	52685111	81166784	36	7476											
NOC4L	79050	broad.mit.edu	37	12	132635897	132635897	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:132635897C>T	uc001ujz.1	+	10	1098	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	353					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCTGGCTGACCTCTTCCTGTC	0.652													T	132635897	C	T	132635897	3	4	112	1	0	0	0	0	1	0	0	0	10515	681	24	3	1099	3	NOC4L	12	132635897	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	79950786	132635897	1215998	37	7477											
PCCA	5095	broad.mit.edu	37	13	100809554	100809554	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr13:100809554A>G	uc001voo.3	+	5	534	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	PCCA_uc010aga.3_Missense_Mutation_p.Y117C|PCCA_uc010tiz.2_Missense_Mutation_p.Y143C	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	143	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.G142C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CATCCAGGTTATGGATTCCTT	0.318													G	100809554	A	G	100809554	3	3	112	1	0	0	0	0	1	0	0	0	11504	449	16	4	450	4	PCCA	13	100809554	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08		100809554	14360324	38	7478											
NPAS3	64067	broad.mit.edu	37	14	34270129	34270129	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr14:34270129C>T	uc001wru.3	+	11	2680	c.2616C>T	c.(2614-2616)ctC>ctT	p.L872L	NPAS3_uc001wrs.3_Silent_p.L859L|NPAS3_uc001wrv.3_Silent_p.L842L|NPAS3_uc001wrt.3_Silent_p.L840L	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGGAGATGCTCTACCACCACG	0.637													T	34270129	C	T	34270129	2	4	112	1	0	0	0	0	0	0	0	1	10564	900	32	3		3	NPAS3	14	34270129	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08		34270129	73079411	39	7479											
CACNG3	10368	broad.mit.edu	37	16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr16:24366270G>A	uc002dmf.3	+	2	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	138					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A138T(2)|p.A138V(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATTCTCAGCGCGGGCATCTT	0.572													A	24366270	G	A	24366270	3	1	112	1	0	0	0	0	1	0	0	0	2558	1087	38	1	422	1	CACNG3	16	24366270	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		24366270	65988483	40	7480											
GJC1	10052	broad.mit.edu	37	17	42882694	42882694	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:42882694G>A	uc002ihj.3	-	1	1003	c.492C>T	c.(490-492)ggC>ggT	p.G164G	GJC1_uc002ihk.3_Silent_p.G164G|GJC1_uc002ihl.3_Silent_p.G164G|GJC1_uc021tyf.1_Silent_p.G164G	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	164					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCCGTCGTCGGCCATCATGCT	0.468													A	42882694	G	A	42882694	2	1	112	1	0	0	0	0	0	0	0	1	6414	1190	42	3		3	GJC1	17	42882694	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08		42882694	38312516	41	7481											
DLX3	1747	broad.mit.edu	37	17	48072315	48072315	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:48072315G>A	uc002ipy.3	-	0	274	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_005220	NP_005211	O60479	DLX3_HUMAN	Homo sapiens distal-less homeobox 3 (DLX3), mRNA.	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGGAGCTGGAGATGTCGGTGA	0.642													A	48072315	G	A	48072315	2	1	112	1	0	0	0	0	0	0	0	1	4572	932	33	3		3	DLX3	17	48072315	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	5189621	48072315	33122895	42	7482											
ABCA6	23460	broad.mit.edu	37	17	67111007	67111007	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:67111007C>T	uc002jhw.1	-	12	1853	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	560	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.G559D(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGAGGACAGACGCCAGTTATC	0.348													T	67111007	C	T	67111007	3	4	112	1	0	0	0	0	1	0	0	0	36	536	19	1	3283	1	ABCA6	17	67111007	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	19038692	67111007	14084203	43	7483											
TMEM161A	54929	broad.mit.edu	37	19	19243312	19243312	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:19243312G>A	uc002nlg.3	-	4	322	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	TMEM161A_uc002nli.3_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	98					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		p.R98L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGGAAGAAGCGCAGGACTGTG	0.582													A	19243312	G	A	19243312	3	1	112	1	0	0	0	0	1	0	0	0	16073	1087	38	1	1179	1	TMEM161A	19	19243312	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		19243312	39885671	44	7484											
ZNF229	7772	broad.mit.edu	37	19	44934110	44934110	+	Silent	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:44934110C>T	uc002oze.1	-	5	1280	c.846G>A	c.(844-846)ccG>ccA	p.P282P	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.P276P	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTTGGATGCGGGGGAAGGT	0.443													T	44934110	C	T	44934110	2	4	112	1	0	0	0	0	0	0	0	1	17779	755	27	1		1	ZNF229	19	44934110	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	25690798	44934110	14194873	45	7485											
JOSD2	126119	broad.mit.edu	37	19	51009714	51009714	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:51009714G>A	uc002psn.1	-	3	419	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	JOSD2_uc002psp.1_Missense_Mutation_p.R130C|JOSD2_uc002pso.1_Missense_Mutation_p.R130C|JOSD2_uc002psq.1_Missense_Mutation_p.R88C	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Homo sapiens Josephin domain containing 2 (JOSD2), mRNA.	130	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		TCCACCTGGCGCAGGGCCACC	0.701													A	51009714	G	A	51009714	3	1	112	1	0	0	0	0	1	0	0	0	7959	1087	38	1	186	1	JOSD2	19	51009714	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	6075604	51009714	8119269	46	7486											
CELSR1	9620	broad.mit.edu	37	22	46793605	46793605	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr22:46793605G>A	uc003bhw.1	-	11	5667	c.5667C>T	c.(5665-5667)gaC>gaT	p.D1889D	CELSR1_uc011arc.1_Silent_p.D210D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1889	EGF-like 5; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCCAGGCGTCGTGGCAGC	0.617													A	46793605	G	A	46793605	2	1	112	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46793605	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08		46793605	4510961	47	7487											
USP11	8237	broad.mit.edu	37	X	47104414	47104414	+	Splice_Site	SNP	G	G	C			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:47104414G>C	uc004dhp.3	+	16	2216	c.2216_splice	c.e16-1	p.A739_splice	USP11_uc004dhq.3_Splice_Site_p.A465_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	739					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567													C	47104414	G	C	47104414	5	2	112	1	0	0	0	0	0	0	1	0	17039	985	34	5	2277	5	USP11	23	47104414	Splice_Site	SNP	G	TCGA-12-0616-01A-01D-1492-08		47104414	108166146	48	7488											
HUWE1	10075	broad.mit.edu	37	X	53576344	53576344	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:53576344C>T	uc004dsp.3	-	66	10013	c.9611G>A	c.(9610-9612)cGt>cAt	p.R3204H	HUWE1_uc004dsn.3_Missense_Mutation_p.R2012H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3204					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCGGTGTAGACGGCTAGTATT	0.557													T	53576344	C	T	53576344	3	4	112	1	0	0	0	0	1	0	0	0	7461	536	19	1	3585	1	HUWE1	23	53576344	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	6471930	53576344	101694216	49	7489											
DCAF12L1	139170	broad.mit.edu	37	X	125686329	125686329	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:125686329G>A	uc022cds.1	-	0	263	c.263C>T	c.(262-264)aCg>aTg	p.T88M	DCAF12L1_uc004eul.3_Missense_Mutation_p.T88M	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	88										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGGCGCTCCGTCAGCAGCTC	0.657													A	125686329	G	A	125686329	3	1	112	1	0	0	0	0	1	0	0	0	4264	1145	40	1	1132	1	DCAF12L1	23	125686329	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	72109985	125686329	29584231	50	7490											
MAGEC1	9947	broad.mit.edu	37	X	140995245	140995245	+	Silent	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:140995245G>A	uc004fbt.3	+	3	2379	c.2055G>A	c.(2053-2055)ggG>ggA	p.G685G	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.G344G	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	685							protein binding	p.G685E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGAGGGGGAGGATTCCC	0.577										HNSCC(15;0.026)			A	140995245	G	A	140995245	2	1	112	1	0	0	0	0	0	0	0	1	9180	1219	43	3		3	MAGEC1	23	140995245	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	15308916	140995245	14275315	51	7491											
HAUS7	55559	broad.mit.edu	37	X	152735936	152735936	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:152735936G>A	uc004fhn.2	-	0	668	c.110C>T	c.(109-111)gCg>gTg	p.A37V	HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Missense_Mutation_p.A37V|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.	37					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CTCCACAGCCGCCCTGGACAC	0.726													A	152735936	G	A	152735936	3	1	112	1	0	0	0	0	1	0	0	0	6971	1087	38	1	1036	1	HAUS7	23	152735936	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	11740691	152735936	2534624	52	7492											
COL16A1	1307	broad.mit.edu	37	1	32164172	32164172	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:32164172G>A	uc001btk.1	-	4	667	c.302C>T	c.(301-303)gCc>gTc	p.A101V	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Missense_Mutation_p.A101V	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	101	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGCACCAGGGCAAACTCCTC	0.567													A	32164172	G	A	32164172	3	1	113	1	0	0	0	0	1	0	0	0	3673	1203	42	3	4780	3	COL16A1	1	32164172	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		32164172	217086449	1	7493											
KLF17	128209	broad.mit.edu	37	1	44595136	44595136	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:44595136G>A	uc001clp.3	+	1	251	c.193G>A	c.(193-195)Gca>Aca	p.A65T	KLF17_uc009vxf.1_Missense_Mutation_p.A28T	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	65					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCCTCACAGCGCAGAGATGCT	0.557													A	44595136	G	A	44595136	3	1	113	1	0	0	0	0	1	0	0	0	8345	1087	38	1	199	1	KLF17	1	44595136	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	12430964	44595136	204655485	2	7494											
FLG2	388698	broad.mit.edu	37	1	152324215	152324215	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:152324215G>A	uc001ezw.4	-	2	6120	c.6047C>T	c.(6046-6048)aCa>aTa	p.T2016I	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2016							calcium ion binding|structural molecule activity	p.S2015T(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTCTGTGTGGACTGTCC	0.522													A	152324215	G	A	152324215	3	1	113	1	0	0	0	0	1	0	0	0	5923	1377	48	3	1132	3	FLG2	1	152324215	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	107729079	152324215	96926406	3	7495											
SPTA1	6708	broad.mit.edu	37	1	158585037	158585037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:158585037G>A	uc001fst.1	-	47	6956	c.6757C>T	c.(6757-6759)Caa>Taa	p.Q2253*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2253					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGTTGTGTTGCATCCGCAAC	0.537													A	158585037	G	A	158585037	4	1	113	1	0	0	0	0	0	1	0	0	15115	1328	46	3	522	3	SPTA1	1	158585037	Nonsense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	6260822	158585037	90665584	4	7496											
TNFSF4	7292	broad.mit.edu	37	1	173155865	173155865	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:173155865G>A	uc001giw.3	-	2	498	c.342C>T	c.(340-342)aaC>aaT	p.N114N	TNFSF4_uc001giv.3_Silent_p.N64N	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	114					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GAAGGCTAATGTTGACTTCCT	0.468													A	173155865	G	A	173155865	2	1	113	1	0	0	0	0	0	0	0	1	16307	1368	48	3		3	TNFSF4	1	173155865	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	14570828	173155865	76094756	5	7497											
IGFN1	91156	broad.mit.edu	37	1	201191952	201191952	+	Missense_Mutation	SNP	T	T	G	rs146807711		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:201191952T>G	uc001gwc.3	+	19	10417	c.10287T>G	c.(10285-10287)ttT>ttG	p.F3429L	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGTCTCCTTTGAAGTGAGTG	0.572											OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	201191952	T	G	201191952	3	3	113	1	0	0	0	0	1	0	0	0	7590	1809	63	5	10361	5	IGFN1	1	201191952	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08	28036087	201191952	48058669	6	7498											
LIN9	286826	broad.mit.edu	37	1	226420896	226420896	+	Splice_Site	SNP	T	T	C			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:226420896T>C	uc001hqa.2	-	14	1784	c.1474_splice	c.e14-1	p.C492_splice	LIN9_uc001hqb.2_Splice_Site_p.C457_splice|LIN9_uc001hqc.3_Splice_Site_p.C424_splice|LIN9_uc009xel.1_Intron	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	476					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGCTAGACACTAAAGGGAAAA	0.294													C	226420896	T	C	226420896	5	2	113	1	0	0	0	0	0	0	1	0	8813	1536	53	4	212	4	LIN9	1	226420896	Splice_Site	SNP	T	TCGA-12-0618-01A-01D-1492-08	25228944	226420896	22829725	7	7499											
TRIB2	28951	broad.mit.edu	37	2	12858629	12858629	+	Silent	SNP	T	T	C	rs144421263	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:12858629T>C	uc002rbv.4	+	0	1632	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L	TRIB2_uc010yjp.2_Intron	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.	66	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAATACTTATTGTTGGAACC	0.577											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	12858629	T	C	12858629	2	2	113	1	0	0	0	0	0	0	0	1	16480	1490	52	4		4	TRIB2	2	12858629	Silent	SNP	T	TCGA-12-0618-01A-01D-1492-08		12858629	230340744	8	7500											
IFT172	26160	broad.mit.edu	37	2	27682592	27682592	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:27682592G>T	uc002rku.3	-	23	2677	c.2626C>A	c.(2626-2628)Cac>Aac	p.H876N		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	876					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGATGTAGTGATTAATGGCT	0.522													T	27682592	G	T	27682592	3	4	113	1	0	0	0	0	1	0	0	0	7557	1290	45	5	2723	5	IFT172	2	27682592	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	14823963	27682592	215516781	9	7501											
PMS1	5378	broad.mit.edu	37	2	190728600	190728600	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:190728600C>T	uc002urh.4	+	9	2517	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.A602V|PMS1_uc002urk.4_Missense_Mutation_p.A624V|PMS1_uc002uri.4_Intron|PMS1_uc010zgc.2_Missense_Mutation_p.A487V|PMS1_uc010zgd.2_Missense_Mutation_p.A487V|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.A624V|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Intron|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.A331V	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	663					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.A663V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGGAATTTGGCCCAGAAGCAC	0.363			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					T	190728600	C	T	190728600	3	4	113	1	0	0	0	0	1	0	0	0	12142	739	26	3	2022	3	PMS1	2	190728600	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	163046008	190728600	52470773	10	7502											
AOX1	316	broad.mit.edu	37	2	201523898	201523898	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:201523898G>A	uc002uvx.3	+	27	3283	c.3182G>A	c.(3181-3183)cGt>cAt	p.R1061H	AOX1_uc010zhf.2_Missense_Mutation_p.R617H|AOX1_uc010fsu.3_Missense_Mutation_p.R427H	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1061					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			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)	GTGGTCAGCCGTGAATTAAGA	0.453													A	201523898	G	A	201523898	3	1	113	1	0	0	0	0	1	0	0	0	729	1145	40	1	3292	1	AOX1	2	201523898	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	10795298	201523898	41675475	11	7503											
ABCA12	26154	broad.mit.edu	37	2	215843155	215843156	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:215843155_215843156insT	uc002vew.3	-	32	5232_5233	c.5012_5013insA	c.(5011-5013)aatfs	p.N1671fs	ABCA12_uc002vev.3_Frame_Shift_Ins_p.N1353fs|ABCA12_uc010zjn.2_Frame_Shift_Ins_p.N598fs	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1671					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATAGCACTATTTTTTTGTGA	0.376													T	215843156	-	T	215843155	7	5	113	1	0	1	1	0	0	0	0	0	30	446	16	0	2858	0	ABCA12	2	215843155	Frame_Shift_Ins	INS	-	TCGA-12-0618-01A-01D-1492-08	14319257	215843155	27356218	12	7504											
NEU2	4759	broad.mit.edu	37	2	233899564	233899564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:233899564C>T	uc010zmn.2	+	1	940	c.940C>T	c.(940-942)Cga>Tga	p.R314*		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	314							exo-alpha-sialidase activity	p.P313P(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCTCAACCCGCGACCTCCAGC	0.692													T	233899564	C	T	233899564	4	4	113	1	0	0	0	0	0	1	0	0	10342	760	27	1	946	1	NEU2	2	233899564	Nonsense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	18056409	233899564	9299809	13	7505											
COL6A3	1293	broad.mit.edu	37	2	238280769	238280769	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:238280769G>A	uc002vwl.2	-	8	4176	c.3891C>T	c.(3889-3891)aaC>aaT	p.N1297N	COL6A3_uc002vwo.2_Silent_p.N1091N|COL6A3_uc010znj.1_Silent_p.N690N|COL6A3_uc002vwq.3_Silent_p.N1091N|COL6A3_uc002vwr.3_Silent_p.N890N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1297	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.N1297N(2)		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)		GCTGCACCGCGTTCTGCACTT	0.617													A	238280769	G	A	238280769	2	1	113	1	0	0	0	0	0	0	0	1	3701	1136	40	1		1	COL6A3	2	238280769	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	4381205	238280769	4918604	14	7506											
NEU4	129807	broad.mit.edu	37	2	242758284	242758284	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:242758284C>G	uc002wcp.2	+	3	1898	c.1404C>G	c.(1402-1404)ttC>ttG	p.F468L	NEU4_uc010fzr.3_Missense_Mutation_p.F455L|NEU4_uc002wcm.3_Missense_Mutation_p.F455L|NEU4_uc002wco.2_Missense_Mutation_p.F455L|NEU4_uc002wcn.2_Missense_Mutation_p.F467L	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	455						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTTGTACATTCTCCCTGCGTG	0.642													G	242758284	C	G	242758284	3	3	113	1	0	0	0	0	1	0	0	0	10344	912	32	5	1418	5	NEU4	2	242758284	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	4477515	242758284	441089	15	7507											
ATP2B2	491	broad.mit.edu	37	3	10413708	10413708	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:10413708G>A	uc003bvt.3	-	11	1883	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	ATP2B2_uc003bvv.3_Missense_Mutation_p.R437C|ATP2B2_uc003bvw.3_Missense_Mutation_p.R437C|ATP2B2_uc010hdo.3_Missense_Mutation_p.R187C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	482					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCAGGTGGCGTACCAGGTTG	0.587													A	10413708	G	A	10413708	3	1	113	1	0	0	0	0	1	0	0	0	1140	1145	40	1	2335	1	ATP2B2	3	10413708	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		10413708	187608722	16	7508											
RRP9	9136	broad.mit.edu	37	3	51969702	51969702	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:51969702C>T	uc003dbw.1	-	8	781	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	248					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CTGCGGAATGCCAGACCCTAA	0.592													T	51969702	C	T	51969702	3	4	113	1	0	0	0	0	1	0	0	0	13691	739	26	3	713	3	RRP9	3	51969702	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	41555994	51969702	146052728	17	7509											
RETNLB	84666	broad.mit.edu	37	3	108474644	108474644	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:108474644C>T	uc003dxh.2	-	2	415	c.317G>A	c.(316-318)cGc>cAc	p.R106H		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	106					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGGCAGCAGCGGGCAGTGGT	0.552													T	108474644	C	T	108474644	3	4	113	1	0	0	0	0	1	0	0	0	13237	768	27	1	22	1	RETNLB	3	108474644	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	56504942	108474644	89547786	18	7510											
SEC62	7095	broad.mit.edu	37	3	169694809	169694809	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:169694809C>A	uc003fgg.3	+	2	252	c.221C>A	c.(220-222)aCc>aAc	p.T74N	SEC62_uc003fgh.3_Missense_Mutation_p.T74N	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	74					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTATTTACAACCAGGGAGTCT	0.348													A	169694809	C	A	169694809	3	1	113	1	0	0	0	0	1	0	0	0	14004	507	18	5	231	5	SEC62	3	169694809	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	61220165	169694809	28327621	19	7511											
DKK2	27123	broad.mit.edu	37	4	107846994	107846994	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr4:107846994C>T	uc003hyi.3	-	1	1040	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.R112Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	112	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CATGCCATCTCGGTGGCAGCG	0.498													T	107846994	C	T	107846994	3	4	113	1	0	0	0	0	1	0	0	0	4545	884	31	2	456	2	DKK2	4	107846994	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		107846994	83307282	20	7512											
SH3RF2	153769	broad.mit.edu	37	5	145393517	145393517	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr5:145393517C>T	uc003lnt.3	+	4	1190	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	318							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R318C(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTCAGGGCGCCATATGGT	0.577													T	145393517	C	T	145393517	3	4	113	1	0	0	0	0	1	0	0	0	14259	768	27	1	966	1	SH3RF2	5	145393517	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		145393517	35521743	21	7513											
OR14J1	442191	broad.mit.edu	37	6	29275286	29275286	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:29275286G>A	uc011dln.2	+	0	820	c.820G>A	c.(820-822)Gta>Ata	p.V274I		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGTATTCTCCGTATTCTATAC	0.443													A	29275286	G	A	29275286	3	1	113	1	0	0	0	0	1	0	0	0	10948	1145	40	1	822	1	OR14J1	6	29275286	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		29275286	141839781	22	7514											
HLA-DOA	3111	broad.mit.edu	37	6	32975995	32975995	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:32975995G>A	uc003ocr.3	-	1	202	c.126C>T	c.(124-126)taC>taT	p.Y42Y	HLA-DOA_uc010juj.3_Silent_p.Y12Y|HLA-DOA_uc010jui.3_Silent_p.Y42Y	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	42	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCGAGGCGCCGTAAGACTGGT	0.542													A	32975995	G	A	32975995	2	1	113	1	0	0	0	0	0	0	0	1	7200	1140	40	1		1	HLA-DOA	6	32975995	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	3700709	32975995	138139072	23	7515											
CUL9	23113	broad.mit.edu	37	6	43163923	43163923	+	Silent	SNP	C	C	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:43163923C>A	uc003ouk.3	+	9	2580	c.2505C>A	c.(2503-2505)atC>atA	p.I835I	CUL9_uc003oul.3_Silent_p.I835I|CUL9_uc010jyk.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	835					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCGCCAGCATCGACTCAGCCA	0.567													A	43163923	C	A	43163923	2	1	113	1	0	0	0	0	0	0	0	1	4061	874	31	5		5	CUL9	6	43163923	Silent	SNP	C	TCGA-12-0618-01A-01D-1492-08	10187928	43163923	127951144	24	7516											
CRISP3	10321	broad.mit.edu	37	6	49696554	49696554	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:49696554G>A	uc021zai.1	-	7	784	c.696C>T	c.(694-696)taC>taT	p.Y232Y	CRISP3_uc003ozs.3_Silent_p.Y222Y	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	209					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGAGATCTTCGTACTTGCAAC	0.358													A	49696554	G	A	49696554	2	1	113	1	0	0	0	0	0	0	0	1	3881	1140	40	1		1	CRISP3	6	49696554	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	6532631	49696554	121418513	25	7517											
ARID1B	57492	broad.mit.edu	37	6	157522507	157522507	+	Silent	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:157522507C>T	uc003qqp.3	+	16	4740	c.4740C>T	c.(4738-4740)acC>acT	p.T1580T	ARID1B_uc003qqo.3_Silent_p.T1593T|ARID1B_uc003qqn.3_Silent_p.T1633T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1580	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCAGGTCACCGGGCCACCAC	0.547													T	157522507	C	T	157522507	2	4	113	1	0	0	0	0	0	0	0	1	914	639	23	2		2	ARID1B	6	157522507	Silent	SNP	C	TCGA-12-0618-01A-01D-1492-08	107825953	157522507	13592560	26	7518											
OSBPL3	26031	broad.mit.edu	37	7	24874215	24874215	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:24874215G>A	uc003sxf.3	-	14	2041	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.P510S|OSBPL3_uc003sxh.3_Missense_Mutation_p.P515S|OSBPL3_uc003sxi.3_Missense_Mutation_p.P479S|OSBPL3_uc003sxj.1_Missense_Mutation_p.P275S|OSBPL3_uc003sxk.1_Missense_Mutation_p.P244S	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	546					lipid transport		lipid binding|protein binding	p.P546P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AGCTCCACCGGCATGGCCACC	0.632													A	24874215	G	A	24874215	3	1	113	1	0	0	0	0	1	0	0	0	11279	1203	42	3	1063	3	OSBPL3	7	24874215	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		24874215	134264448	27	7519											
NSUN5	55695	broad.mit.edu	37	7	72721702	72721702	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:72721702C>T	uc003txw.3	-	2	346	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R90Q|NSUN5_uc003txv.3_Missense_Mutation_p.R90Q|NSUN5_uc003txx.3_Intron	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	90							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGCCTTCCATCGGCCCCCACC	0.552													T	72721702	C	T	72721702	3	4	113	1	0	0	0	0	1	0	0	0	10681	884	31	2	1184	2	NSUN5	7	72721702	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	47847487	72721702	86416961	28	7520											
ABCB4	5244	broad.mit.edu	37	7	87079357	87079357	+	Missense_Mutation	SNP	C	C	T	rs147998447	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:87079357C>T	uc003uiv.1	-	7	836	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	ABCB4_uc003uiw.1_Missense_Mutation_p.A254T|ABCB4_uc003uix.1_Missense_Mutation_p.A254T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	254	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.A254A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCTGCCACGGCGCCTGCTTTT	0.478													T	87079357	C	T	87079357	3	4	113	1	0	0	0	0	1	0	0	0	43	768	27	1	3184	1	ABCB4	7	87079357	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	14357655	87079357	72059306	29	7521											
ORAI2	80228	broad.mit.edu	37	7	102086975	102086975	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:102086975G>A	uc010lhz.1	+	3	476	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	ORAI2_uc003uzj.2_Missense_Mutation_p.V81M|ORAI2_uc003uzk.2_Missense_Mutation_p.V81M|ORAI2_uc011kks.1_Missense_Mutation_p.V4M	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	81						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CATGGTGGAGGTGCAGCTGGA	0.677													A	102086975	G	A	102086975	3	1	113	1	0	0	0	0	1	0	0	0	11258	1261	44	3	247	3	ORAI2	7	102086975	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	15007618	102086975	57051688	30	7522											
SLC26A3	1811	broad.mit.edu	37	7	107431671	107431671	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:107431671G>A	uc003ver.2	-	4	603	c.392C>T	c.(391-393)cCg>cTg	p.P131L	SLC26A3_uc003ves.2_Missense_Mutation_p.P96L	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	131			P -> R (in DIAR1).		excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACTCAGAATCGGAAACGGACC	0.428													A	107431671	G	A	107431671	3	1	113	1	0	0	0	0	1	0	0	0	14518	1116	39	2	1970	2	SLC26A3	7	107431671	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	5344696	107431671	51706992	31	7523											
EZH2	2146	broad.mit.edu	37	7	148515006	148515009	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:148515006_148515009delTTCT	uc003wfd.2	-	9	1378_1381	c.1185_1188delAGAA	c.(1183-1188)aaagaafs	p.K395fs	EZH2_uc022aov.1_Frame_Shift_Del_p.K356fs|EZH2_uc011kug.2_Frame_Shift_Del_p.K386fs|EZH2_uc003wfb.2_Frame_Shift_Del_p.K400fs|EZH2_uc003wfc.2_Frame_Shift_Del_p.K356fs|EZH2_uc011kuh.2_Frame_Shift_Del_p.K386fs|EZH2_uc011kui.2_Frame_Shift_Del_p.K395fs|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	395					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.E401fs*22(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCTTCTTCTTCTTTATCATTGT	0.456			Mis		DLBCL								-	148515009	TTCT	-	148515006	7	5	113	1	0	1	0	1	0	0	0	0	5334	1606	56	0	1096	0	EZH2	7	148515006	Frame_Shift_Del	DEL	TTCT	TCGA-12-0618-01A-01D-1492-08	41083335	148515006	10623657	32	7524											
BMP1	649	broad.mit.edu	37	8	22069181	22069181	+	Silent	SNP	A	A	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:22069181A>G	uc003xbg.3	+	19	3167	c.2901A>G	c.(2899-2901)aaA>aaG	p.K967K	BMP1_uc011kzc.2_Silent_p.K716K|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	967	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCACCAAAAAAGGTTTCCACC	0.577													G	22069181	A	G	22069181	2	3	113	1	0	0	0	0	0	0	0	1	1456	69	3	4		4	BMP1	8	22069181	Silent	SNP	A	TCGA-12-0618-01A-01D-1492-08		22069181	124294841	33	7525											
EYA1	2138	broad.mit.edu	37	8	72156896	72156896	+	Missense_Mutation	SNP	C	C	A	rs145219836	by1000genomes	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:72156896C>A	uc003xyu.3	-	11	1722	c.1082G>T	c.(1081-1083)cGa>cTa	p.R361L	EYA1_uc003xyt.4_Missense_Mutation_p.R328L|EYA1_uc003xyr.4_Intron|EYA1_uc010lzf.3_Missense_Mutation_p.R288L|EYA1_uc003xys.4_Missense_Mutation_p.R361L|EYA1_uc011lfe.2_Missense_Mutation_p.R355L|EYA1_uc003xyv.3_Missense_Mutation_p.R239L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	361					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.R361L(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCATTCGCAGTCCAAG	0.323													A	72156896	C	A	72156896	3	1	113	1	0	0	0	0	1	0	0	0	5328	884	31	5	724	5	EYA1	8	72156896	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	50087715	72156896	74207126	34	7526											
DECR1	1666	broad.mit.edu	37	8	91031335	91031335	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:91031335G>A	uc003yek.1	+	3	493	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	DECR1_uc011lgc.1_Missense_Mutation_p.V109M|DECR1_uc011lgd.1_Non-coding_Transcript	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	118					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCAGTGTGATGTGAGGGATCC	0.363													A	91031335	G	A	91031335	3	1	113	1	0	0	0	0	1	0	0	0	4382	1377	48	3	366	3	DECR1	8	91031335	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	18874439	91031335	55332687	35	7527											
PRDM12	59335	broad.mit.edu	37	9	133543671	133543671	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr9:133543671G>A	uc004bzt.1	+	2	601	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	181	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I180I(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGTCCAGATCGGCACCAGCAT	0.582													A	133543671	G	A	133543671	3	1	113	1	0	0	0	0	1	0	0	0	12453	1116	39	2	551	2	PRDM12	9	133543671	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		133543671	7669760	36	7528											
PTEN	5728	broad.mit.edu	37	10	89653779	89653780	+	Splice_Site	INS	-	-	AGAT			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr10:89653779_89653780insAGAT	uc001kfb.3	+	2	1112	c.80_splice	c.e2-2	p.Y27_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	27	Phosphatase tensin-type.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(4)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAAAGTACTCAGATATTTATC	0.312		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			AGAT	89653780	-	AGAT	89653779	8	5	113	1	0	1	1	0	0	0	1	0	12738	841	29	0		0	PTEN	10	89653779	Splice_Site	INS	-	TCGA-12-0618-01A-01D-1492-08		89653779	45880968	37	7529											
HBG1	3048	broad.mit.edu	37	11	5275527	5275527	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:5275527A>G	uc001mai.1	-	1	747	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.F104L	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	104					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACCTTGAAGTTCTCAGGA	0.498													G	5275527	A	G	5275527	3	3	113	1	0	0	0	0	1	0	0	0	6982	72	3	4		4	HBG1	11	5275527	Missense_Mutation	SNP	A	TCGA-12-0618-01A-01D-1492-08		5275527	129730989	38	7530											
INCENP	3619	broad.mit.edu	37	11	61898063	61898063	+	Splice_Site	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:61898063G>A	uc001nsw.1	+	4	1265	c.1063_splice	c.e4+1	p.C355_splice	INCENP_uc009ynv.3_Splice_Site_p.C355_splice|INCENP_uc009ynw.1_Splice_Site_p.C355_splice|INCENP_uc001nsx.1_Splice_Site_p.C355_splice	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	355					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGCATCATCTGTGAGTCTGGG	0.587													A	61898063	G	A	61898063	5	1	113	1	0	0	0	0	0	0	1	0	7733	1391	48	3	1074	3	INCENP	11	61898063	Splice_Site	SNP	G	TCGA-12-0618-01A-01D-1492-08	56622536	61898063	73108453	39	7531											
MYEOV	26579	broad.mit.edu	37	11	69063304	69063304	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:69063304C>A	uc001oov.3	+	2	837	c.387C>A	c.(385-387)gaC>gaA	p.D129E	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.D129E|MYEOV_uc001oow.3_Missense_Mutation_p.D71E	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	129										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		AAGACGTGGACGTGTCCCGGG	0.617													A	69063304	C	A	69063304	3	1	113	1	0	0	0	0	1	0	0	0	10025	535	19	5	393	5	MYEOV	11	69063304	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	7165241	69063304	65943212	40	7532											
VWF	7450	broad.mit.edu	37	12	6127617	6127617	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:6127617G>A	uc001qnn.1	-	27	5217	c.4967C>T	c.(4966-4968)aCg>aTg	p.T1656M	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1656	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGGGGGAGCGTCTCAAAGTC	0.632													A	6127617	G	A	6127617	3	1	113	1	0	0	0	0	1	0	0	0	17243	1145	40	1	3574	1	VWF	12	6127617	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		6127617	127724278	41	7533											
MDM2	4193	broad.mit.edu	37	12	69229607	69229607	+	Splice_Site	SNP	A	A	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:69229607A>G	uc021rad.1	+	8	838	c.364_splice	c.e8-2	p.D122_splice	MDM2_uc001sui.3_Splice_Site_p.D229_splice|MDM2_uc009zqx.3_Splice_Site_p.D174_splice|MDM2_uc009zqy.1_Splice_Site_p.D218_splice|MDM2_uc021rae.1_Splice_Site_p.D218_splice|MDM2_uc001sun.4_Splice_Site_p.D48_splice|MDM2_uc009zra.3_Splice_Site_p.D48_splice|MDM2_uc021raf.1_Splice_Site|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_Splice_Site|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Splice_Site_p.D23_splice|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Splice_Site_p.D23_splice|MDM2_uc021rag.1_Splice_Site|MDM2_uc021rah.1_Splice_Site_p.D193_splice|MDM2_uc021rai.1_Splice_Site|MDM2_uc021raj.1_Intron			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	223					cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTCTTGTTTTAGGATCTTGAT	0.398			A		"sarcoma, glioma, colorectal, other"								G	69229607	A	G	69229607	5	3	113	1	0	0	0	0	0	0	1	0	9413	434	15	4	717	4	MDM2	12	69229607	Splice_Site	SNP	A	TCGA-12-0618-01A-01D-1492-08	63101990	69229607	64622288	42	7534											
UHRF1BP1L	23074	broad.mit.edu	37	12	100491231	100491231	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:100491231G>A	uc001tgq.3	-	5	810	c.581C>T	c.(580-582)gCc>gTc	p.A194V	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.A194V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	194										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTTGGGTGGCATCTGCCTC	0.353													A	100491231	G	A	100491231	3	1	113	1	0	0	0	0	1	0	0	0	16966	1203	42	3	3901	3	UHRF1BP1L	12	100491231	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	31261624	100491231	33360664	43	7535											
OAS2	4939	broad.mit.edu	37	12	113447043	113447043	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:113447043C>T	uc001tuj.3	+	9	2187	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S	OAS2_uc001tui.1_Missense_Mutation_p.P683S	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	683	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGGAAAGTGCCGGTAAAAGT	0.458													T	113447043	C	T	113447043	3	4	113	1	0	0	0	0	1	0	0	0	10800	739	26	3	2156	3	OAS2	12	113447043	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	12955812	113447043	20404852	44	7536											
KIAA0564	23078	broad.mit.edu	37	13	42481750	42481750	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:42481750C>T	uc001uyj.3	-	3	525	c.455G>A	c.(454-456)cGt>cAt	p.R152H	KIAA0564_uc001uyk.3_Missense_Mutation_p.R152H	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	152						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGTGCCTGCACGGATCTCTCG	0.458													T	42481750	C	T	42481750	3	4	113	1	0	0	0	0	1	0	0	0	8185	536	19	1	5434	1	KIAA0564	13	42481750	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		42481750	72688128	45	7537											
TRIM13	10206	broad.mit.edu	37	13	50587073	50587073	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:50587073A>T	uc001vdp.1	+	3	1424	c.1006A>T	c.(1006-1008)Acc>Tcc	p.T336S	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.T333S|TRIM13_uc001vdr.1_Missense_Mutation_p.T333S|TRIM13_uc001vds.1_Missense_Mutation_p.T333S|TRIM13_uc021rjq.1_Missense_Mutation_p.T333S	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	333					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CTTTGGTCCTACCATGTTCCT	0.408													T	50587073	A	T	50587073	3	4	113	1	0	0	0	0	1	0	0	0	16485	391	14	5	1012	5	TRIM13	13	50587073	Missense_Mutation	SNP	A	TCGA-12-0618-01A-01D-1492-08	8105323	50587073	64582805	46	7538											
SLITRK6	84189	broad.mit.edu	37	13	86369237	86369237	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:86369237G>T	uc001vll.1	-	1	1866	c.1407C>A	c.(1405-1407)aaC>aaA	p.N469K	SLITRK6_uc021rla.1_Missense_Mutation_p.N469K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	469				N -> H (in Ref. 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)		CTTGGAGGAGGTTGTTATTTA	0.328													T	86369237	G	T	86369237	3	4	113	1	0	0	0	0	1	0	0	0	14747	1252	44	5	1122	5	SLITRK6	13	86369237	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	35782164	86369237	28800641	47	7539											
SERPINA11	256394	broad.mit.edu	37	14	94912764	94912764	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr14:94912764G>A	uc001ydd.1	-	2	881	c.821C>T	c.(820-822)gCg>gTg	p.A274V		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	274					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)		GACCAGCAGCGCCAAGGCATT	0.547													A	94912764	G	A	94912764	3	1	113	1	0	0	0	0	1	0	0	0	14088	1087	38	1	459	1	SERPINA11	14	94912764	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		94912764	12436776	48	7540											
GATM	2628	broad.mit.edu	37	15	45658329	45658329	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr15:45658329T>C	uc001zvc.3	-	5	1222	c.893A>G	c.(892-894)gAt>gGt	p.D298G	GATM_uc001zvb.3_Missense_Mutation_p.D169G|GATM_uc010uev.1_Missense_Mutation_p.D351G	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	298					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GGGATTGGGATCTTTAAAGGA	0.428													C	45658329	T	C	45658329	3	2	113	1	0	0	0	0	1	0	0	0	6263	1435	50	4	394	4	GATM	15	45658329	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08		45658329	56873063	49	7541											
PDILT	204474	broad.mit.edu	37	16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr16:20370700_20370702delCCA	uc002dhc.1	-	11	1917_1919	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													-	20370702	CCA	-	20370700	7	5	113	1	0	1	0	1	0	0	0	0	11674	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-12-0618-01A-01D-1492-08		20370700	69984053	50	7542											
NUP88	4927	broad.mit.edu	37	17	5322843	5322843	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr17:5322843G>A	uc010vsx.2	-	0	217	c.128C>T	c.(127-129)gCt>gTt	p.A43V	NUP88_uc002gbo.2_Missense_Mutation_p.A43V|NUP88_uc010cle.2_Missense_Mutation_p.A43V|NUP88_uc010vsy.2_Missense_Mutation_p.A43V|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	43					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CGACGAAGAAGCTGGTTTCTC	0.602													A	5322843	G	A	5322843	3	1	113	1	0	0	0	0	1	0	0	0	10771	971	34	3	2165	3	NUP88	17	5322843	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		5322843	75872367	51	7543											
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr17:7577568C>T	uc002gim.2	-	6	907	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)			T	7577568	C	T	7577568	3	4	113	1	0	0	0	0	1	0	0	0	16378	478	17	3	577	3	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	2254725	7577568	73617642	52	7544											
ZCCHC2	54877	broad.mit.edu	37	18	60243794	60243794	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr18:60243794G>A	uc002lip.4	+	13	3519	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Silent_p.T643T	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	1173					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTAATGATACGTTGGATTCTG	0.468													A	60243794	G	A	60243794	2	1	113	1	0	0	0	0	0	0	0	1	17584	1132	40	1		1	ZCCHC2	18	60243794	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08		60243794	17833454	53	7545											
ARHGEF18	23370	broad.mit.edu	37	19	7531967	7531967	+	Missense_Mutation	SNP	G	G	A	rs150543189		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:7531967G>A	uc002mgi.3	+	14	2661	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgh.3_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgj.1_Missense_Mutation_p.R446Q	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	803					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CTTGTCCAGCGGATCCAGACA	0.672													A	7531967	G	A	7531967	3	1	113	1	0	0	0	0	1	0	0	0	901	1116	39	2	2466	2	ARHGEF18	19	7531967	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		7531967	51597016	54	7546											
ZNF492	57615	broad.mit.edu	37	19	22846654	22846654	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:22846654T>A	uc002nqw.3	+	3	427	c.183T>A	c.(181-183)aaT>aaA	p.N61K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N61K(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)				GCAAAAAAAATTATTTCCAAA	0.318													A	22846654	T	A	22846654	3	1	113	1	0	0	0	0	1	0	0	0	17940	1490	52	5	193	5	ZNF492	19	22846654	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08	15314687	22846654	36282329	55	7547											
MAG	4099	broad.mit.edu	37	19	35801013	35801013	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:35801013G>A	uc002nyy.2	+	7	1666	c.1468G>A	c.(1468-1470)Gcg>Acg	p.A490T	MAG_uc002nyx.2_Missense_Mutation_p.A490T|MAG_uc010eds.2_Missense_Mutation_p.A465T|MAG_uc002nyz.2_Missense_Mutation_p.A490T	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	490	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CATCTGCACCGCGAGGAACCT	0.706													A	35801013	G	A	35801013	3	1	113	1	0	0	0	0	1	0	0	0	9162	1087	38	1	1490	1	MAG	19	35801013	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	12954359	35801013	23327970	56	7548											
CYP2B6	1555	broad.mit.edu	37	19	41512932	41512932	+	Missense_Mutation	SNP	T	T	C	rs140578107	by1000genomes	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:41512932T>C	uc002opr.1	+	3	614	c.607T>C	c.(607-609)Tac>Cac	p.Y203H	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	203					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.F202L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAACTTGTTCTACCAGACTTT	0.512													C	41512932	T	C	41512932	3	2	113	1	0	0	0	0	1	0	0	0	4164	1522	53	4	621	4	CYP2B6	19	41512932	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08	5711919	41512932	17616051	57	7549											
TULP2	7288	broad.mit.edu	37	19	49398651	49398651	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:49398651G>A	uc002pkz.2	-	4	472	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	107					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TCGGGAGGCCGCGCTCGCCCC	0.632													A	49398651	G	A	49398651	2	1	113	1	0	0	0	0	0	0	0	1	16771	1074	38	1		1	TULP2	19	49398651	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	7885719	49398651	9730332	58	7550											
RPN2	6185	broad.mit.edu	37	20	35865068	35865068	+	Silent	SNP	G	G	A			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr20:35865068G>A	uc002xgp.3	+	15	2143	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	RPN2_uc002xgq.3_Silent_p.T581T	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	613					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			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)				GCAGTGTGACGTTTCTGGCTG	0.532													A	35865068	G	A	35865068	2	1	113	1	0	0	0	0	0	0	0	1	13608	1132	40	1		1	RPN2	20	35865068	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08		35865068	27160452	59	7551											
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	by1000genomes	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr20:51870661G>A	uc002xwo.3	+	1	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(2)|p.A222V(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)			ACAGTGCAGCGCGGCCTATGA	0.562													A	51870661	G	A	51870661	3	1	113	1	0	0	0	0	1	0	0	0	16621	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	16005593	51870661	11154859	60	7552											
INPP5J	27124	broad.mit.edu	37	22	31524557	31524557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:31524557C>T	uc003aju.4	+	8	2202	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	INPP5J_uc003ajw.3_Nonsense_Mutation_p.Q140*|INPP5J_uc003ajt.4_Nonsense_Mutation_p.Q336*|INPP5J_uc003ajv.4_Nonsense_Mutation_p.Q337*|INPP5J_uc003ajs.4_Nonsense_Mutation_p.Q337*|INPP5J_uc011alk.2_Nonsense_Mutation_p.Q637*|INPP5J_uc010gwg.3_Nonsense_Mutation_p.Q269*	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	704	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCACCGACTCCAGGTGACGCA	0.602													T	31524557	C	T	31524557	4	4	113	1	0	0	0	0	0	1	0	0	7759	595	21	3	1040	3	INPP5J	22	31524557	Nonsense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		31524557	19780009	61	7553											
PHF5A	84844	broad.mit.edu	37	22	41863525	41863525	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:41863525C>T	uc003bab.3	-	2	221	c.170G>A	c.(169-171)cGc>cAc	p.R57H	ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATCACACAGCGCCCCTGGTA	0.502													T	41863525	C	T	41863525	3	4	113	1	0	0	0	0	1	0	0	0	11837	768	27	1	170	1	PHF5A	22	41863525	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	10338968	41863525	9441041	62	7554											
NAGA	4668	broad.mit.edu	37	22	42456400	42456400	+	Silent	SNP	T	T	G			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:42456400T>G	uc003bbw.4	-	8	1664	c.1119A>C	c.(1117-1119)tcA>tcC	p.S373S		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	373					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGATGTCACCTGAGTAGACGT	0.557													G	42456400	T	G	42456400	2	3	113	1	0	0	0	0	0	0	0	1	10141	1567	55	5		5	NAGA	22	42456400	Silent	SNP	T	TCGA-12-0618-01A-01D-1492-08	592875	42456400	8848166	63	7555											
PTPRU	10076	broad.mit.edu	37	1	29602053	29602053	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:29602053G>A	uc001bru.3	+	7	1367	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	PTPRU_uc009vtq.3_Missense_Mutation_p.R413H|PTPRU_uc009vtr.3_Missense_Mutation_p.R413H|PTPRU_uc001brw.3_Missense_Mutation_p.R413H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	413	Fibronectin type-III 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AACGTGACGCGTTGCCACACC	0.592													A	29602053	G	A	29602053	3	1	114	1	0	0	0	0	1	0	0	0	12813	1145	40	1	1268	1	PTPRU	1	29602053	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		29602053	219648568	1	7556											
CYP4B1	1580	broad.mit.edu	37	1	47282838	47282838	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:47282838C>T	uc001cqn.4	+	8	1276	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	CYP4B1_uc001cqm.4_Missense_Mutation_p.R397W|CYP4B1_uc009vym.3_Missense_Mutation_p.R383W|CYP4B1_uc010omk.2_Missense_Mutation_p.R234W	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	397					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGTGGATGGCCGGTCTCTACC	0.567													T	47282838	C	T	47282838	3	4	114	1	0	0	0	0	1	0	0	0	4185	643	23	2	1226	2	CYP4B1	1	47282838	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	17680785	47282838	201967783	2	7557											
LYST	1130	broad.mit.edu	37	1	235860518	235860518	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:235860518T>C	uc001hxj.2	-	45	10604	c.10429A>G	c.(10429-10431)Agt>Ggt	p.S3477G	LYST_uc001hxi.2_Missense_Mutation_p.S701G	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3477					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			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)			ACTGGAGCACTGGGGGAACCC	0.473													C	235860518	T	C	235860518	3	2	114	1	0	0	0	0	1	0	0	0	9128	1580	55	4	1008	4	LYST	1	235860518	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08	188577680	235860518	13390103	3	7558											
RYR2	6262	broad.mit.edu	37	1	237890471	237890471	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:237890471C>T	uc001hyl.1	+	75	10930	c.10810C>T	c.(10810-10812)Cgg>Tgg	p.R3604W	RYR2_uc010pya.2_5'UTR|RYR2_uc021pkz.1_Non-coding_Transcript	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3604					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			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)			AGCCTGCTTCCGGATGGCCCC	0.403													T	237890471	C	T	237890471	3	4	114	1	0	0	0	0	1	0	0	0	13769	643	23	2	11112	2	RYR2	1	237890471	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	2029953	237890471	11360150	4	7559											
MCM6	4175	broad.mit.edu	37	2	136630288	136630288	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr2:136630288G>C	uc002tuw.3	-	1	309	c.233C>G	c.(232-234)aCc>aGc	p.T78S		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	78					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTCTTGAATGGTGGTGGAAAG	0.413													C	136630288	G	C	136630288	3	2	114	1	0	0	0	0	1	0	0	0	9391	1261	44	5	2296	5	MCM6	2	136630288	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		136630288	106569085	5	7560											
SCN10A	6336	broad.mit.edu	37	3	38755494	38755494	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:38755494G>A	uc003ciq.3	-	20	3759	c.3759C>T	c.(3757-3759)cgC>cgT	p.R1253R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1253					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCGCAGAGCGCGAAGGGTTC	0.527													A	38755494	G	A	38755494	2	1	114	1	0	0	0	0	0	0	0	1	13912	1074	38	1		1	SCN10A	3	38755494	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		38755494	159266936	6	7561											
SCN11A	11280	broad.mit.edu	37	3	38913127	38913128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:38913127_38913128insC	uc021wvy.1	-	20	3766_3767	c.3567_3568insG	c.(3565-3570)tggctcfs	p.W1189fs		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1189					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAAATACGAGCCAGAAAATGA	0.361													C	38913128	-	C	38913127	7	5	114	1	0	1	1	0	0	0	0	0	13913	971	34	0	1831	0	SCN11A	3	38913127	Frame_Shift_Ins	INS	-	TCGA-12-0619-01A-01D-1492-08	157633	38913127	159109303	7	7562											
GNB4	59345	broad.mit.edu	37	3	179137188	179137189	+	Frame_Shift_Ins	INS	-	-	G	rs35612039		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:179137188_179137189insG	uc003fjv.4	-	4	483	c.203_splice	c.e4+1	p.R68_splice	GNB4_uc003fju.4_5'Flank	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.	68					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GGTACAAACCTGGAATCGTATC	0.361													G	179137189	-	G	179137188	7	5	114	1	0	1	1	0	0	0	0	0	6520	1594	55	0	848	0	GNB4	3	179137188	Frame_Shift_Ins	INS	-	TCGA-12-0619-01A-01D-1492-08	140224061	179137188	18885242	8	7563											
ETV5	2119	broad.mit.edu	37	3	185823619	185823619	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:185823619G>A	uc003fpy.3	-	1	230	c.165C>T	c.(163-165)gtC>gtT	p.V55V	ETV5_uc003fpz.3_Silent_p.V13V	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	13					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TTACCCCTGGGACCATAAAAG	0.453			T	"TMPRSS2, SCL45A3"	Prostate								A	185823619	G	A	185823619	2	1	114	1	0	0	0	0	0	0	0	1	5282	1161	41	3		3	ETV5	3	185823619	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08	6686431	185823619	12198811	9	7564											
TACC3	10460	broad.mit.edu	37	4	1725208	1725208	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:1725208C>T	uc003gdo.3	+	1	215	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TMEM129_uc003gdn.3_5'Flank|TMEM129_uc003gdm.3_5'Flank|TACC3_uc010ibz.3_Silent_p.C20C|TACC3_uc003gdp.3_Silent_p.C20C	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	20						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGAAAATTGCGACTTCCTGT	0.433													T	1725208	C	T	1725208	2	4	114	1	0	0	0	0	0	0	0	1	15500	776	27	1		1	TACC3	4	1725208	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08		1725208	189429068	10	7565											
TBC1D9	23158	broad.mit.edu	37	4	141580777	141580777	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:141580777C>T	uc010ioj.3	-	10	2158	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	629	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGGAGCATGCGCTCACACAA	0.448													T	141580777	C	T	141580777	3	4	114	1	0	0	0	0	1	0	0	0	15624	768	27	1	1958	1	TBC1D9	4	141580777	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	139855569	141580777	49573499	11	7566											
GRIA2	2891	broad.mit.edu	37	4	158284178	158284178	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:158284178C>T	uc003ipm.4	+	14	3093	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	GRIA2_uc011cit.2_Silent_p.I831I|GRIA2_uc003ipl.4_Silent_p.I878I|GRIA2_uc003ipk.4_Silent_p.I831I|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	878					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.I878I(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)	TATATGGCATCGAAAGTGTTA	0.378													T	158284178	C	T	158284178	2	4	114	1	0	0	0	0	0	0	0	1	6768	874	31	2		2	GRIA2	4	158284178	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08	16703401	158284178	32870098	12	7567											
DNAH5	1767	broad.mit.edu	37	5	13753418	13753418	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:13753418C>G	uc003jfd.2	-	62	10838	c.10796G>C	c.(10795-10797)cGt>cCt	p.R3599P	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3599	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					CAAAGGGTAACGAGATGCCTT	0.368									Kartagener syndrome				G	13753418	C	G	13753418	3	3	114	1	0	0	0	0	1	0	0	0	4604	536	19	5	3146	5	DNAH5	5	13753418	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08		13753418	167161842	13	7568											
MAP3K1	4214	broad.mit.edu	37	5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:56160697C>T	uc003jqw.4	+	3	1472	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	324					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468													T	56160697	C	T	56160697	3	4	114	1	0	0	0	0	1	0	0	0	9243	681	24	3	985	3	MAP3K1	5	56160697	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	42407279	56160697	124754563	14	7569											
GRAMD3	65983	broad.mit.edu	37	5	125821443	125821443	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:125821443A>T	uc011cwt.2	+	10	1317	c.1081A>T	c.(1081-1083)Att>Ttt	p.I361F	GRAMD3_uc003ktu.3_Missense_Mutation_p.I346F|GRAMD3_uc011cwv.2_Missense_Mutation_p.I354F|GRAMD3_uc011cww.2_Missense_Mutation_p.I242F|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.I237F|GRAMD3_uc011cwz.2_Missense_Mutation_p.I330F	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	346										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GCTTCACCATATTCTTATATT	0.348													T	125821443	A	T	125821443	3	4	114	1	0	0	0	0	1	0	0	0	6751	449	16	5	1292	5	GRAMD3	5	125821443	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	69660746	125821443	55093817	15	7570											
PCDHAC2	56139	broad.mit.edu	37	5	140236992	140236992	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:140236992G>A	uc003lhx.2	+	0	1359	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.A453A|PCDHAC2_uc011dad.2_Silent_p.A453A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	468	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A453A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGT	0.677													A	140236992	G	A	140236992	2	1	114	1	0	0	0	0	0	0	0	1	11533	1132	40	1		1	PCDHAC2	5	140236992	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08	14415549	140236992	40678268	16	7571											
PCDHB2	56133	broad.mit.edu	37	5	140475875	140475875	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:140475875C>A	uc003lil.3	+	0	1639	c.1501C>A	c.(1501-1503)Ccc>Acc	p.P501T	PCDHB2_uc003lim.1_Missense_Mutation_p.P162T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCACCTGCCCCTCGCCTC	0.692													A	140475875	C	A	140475875	3	1	114	1	0	0	0	0	1	0	0	0	11542	739	26	5	1503	5	PCDHB2	5	140475875	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	238883	140475875	40439385	17	7572											
GPR116	221395	broad.mit.edu	37	6	46856078	46856078	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:46856078T>C	uc003oyo.3	-	3	611	c.322A>G	c.(322-324)Aca>Gca	p.T108A	GPR116_uc003oyp.3_Missense_Mutation_p.T108A|GPR116_uc003oyq.3_Missense_Mutation_p.T108A|GPR116_uc003oyr.2_Missense_Mutation_p.T108A	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	108					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCACCTGTTGTCACATTTATG	0.403													C	46856078	T	C	46856078	3	2	114	1	0	0	0	0	1	0	0	0	6633	1667	58	4	3790	4	GPR116	6	46856078	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08		46856078	124258989	18	7573											
HTR1E	3354	broad.mit.edu	37	6	87725312	87725312	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:87725312G>A	uc003pli.3	+	1	963	c.260G>A	c.(259-261)cGc>cAc	p.R87H	HTR1E_uc021zcg.1_Missense_Mutation_p.R87H	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	87					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R87H(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTCATGGATCGCTGGAAGCTT	0.572													A	87725312	G	A	87725312	3	1	114	1	0	0	0	0	1	0	0	0	7439	1087	38	1	262	1	HTR1E	6	87725312	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	40869234	87725312	83389755	19	7574											
SDK1	221935	broad.mit.edu	37	7	4169639	4169639	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:4169639G>A	uc003smx.3	+	26	4178	c.4039G>A	c.(4039-4041)Gtg>Atg	p.V1347M	SDK1_uc010kso.3_Missense_Mutation_p.V623M|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1347	Fibronectin type-III 7.				cell adhesion	integral to membrane		p.V1347M(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGCAAGTTCGTGCTCTACGA	0.657													A	4169639	G	A	4169639	3	1	114	1	0	0	0	0	1	0	0	0	13968	1145	40	1	4145	1	SDK1	7	4169639	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		4169639	154969024	20	7575											
SKAP2	8935	broad.mit.edu	37	7	26778465	26778465	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:26778465G>A	uc003syc.3	-	5	711	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.R125W	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	140	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GCACACCACCGTTTCTGCCAT	0.328													A	26778465	G	A	26778465	3	1	114	1	0	0	0	0	1	0	0	0	14356	1144	40	1	689	1	SKAP2	7	26778465	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	22608826	26778465	132360198	21	7576											
ZPBP	11055	broad.mit.edu	37	7	50097662	50097662	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:50097662A>G	uc003tou.3	-	3	480	c.410T>C	c.(409-411)aTt>aCt	p.I137T	ZPBP_uc010kyw.3_Missense_Mutation_p.I136T	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	137					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					ACATGTATAAATTCCACTCAT	0.333													G	50097662	A	G	50097662	3	3	114	1	0	0	0	0	1	0	0	0	18216	101	4	4	665	4	ZPBP	7	50097662	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	23319197	50097662	109041001	22	7577											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	114	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	5135381	55233043	103905620	23	7578											
PTPN12	5782	broad.mit.edu	37	7	77256938	77256938	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:77256938A>G	uc003ugh.2	+	12	2033	c.1942A>G	c.(1942-1944)Atg>Gtg	p.M648V	PTPN12_uc011kgp.1_Missense_Mutation_p.M529V|PTPN12_uc011kgq.1_Missense_Mutation_p.M518V|PTPN12_uc010lds.2_Missense_Mutation_p.M380V	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	648						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGTATTGCCAATGTCCATTGC	0.373													G	77256938	A	G	77256938	3	3	114	1	0	0	0	0	1	0	0	0	12781	101	4	4	1992	4	PTPN12	7	77256938	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	22023895	77256938	81881725	24	7579											
PAX4	5078	broad.mit.edu	37	7	127254980	127254980	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:127254980C>T	uc010lld.1	-	1	496	c.290G>A	c.(289-291)cGc>cAc	p.R97H	PAX4_uc003vmf.2_Missense_Mutation_p.R95H|PAX4_uc003vmg.1_Missense_Mutation_p.R97H|PAX4_uc003vmh.3_Missense_Mutation_p.R95H	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	105	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACAAAGCTGGCGTTGGATTTC	0.592													T	127254980	C	T	127254980	3	4	114	1	0	0	0	0	1	0	0	0	11481	768	27	1	773	1	PAX4	7	127254980	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	49998042	127254980	31883683	25	7580											
PLXNA4	91584	broad.mit.edu	37	7	131872333	131872333	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:131872333C>T	uc003vra.4	-	14	3119	c.2890G>A	c.(2890-2892)Ggg>Agg	p.G964R		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	964	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACATGGGCCCCCGGCTGGGC	0.587													T	131872333	C	T	131872333	3	4	114	1	0	0	0	0	1	0	0	0	12122	623	22	3	2866	3	PLXNA4	7	131872333	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	4617353	131872333	27266330	26	7581											
DENND2A	27147	broad.mit.edu	37	7	140301257	140301257	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:140301257G>A	uc010lnk.3	-	2	1461	c.941C>T	c.(940-942)tCc>tTc	p.S314F	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S314F|DENND2A_uc003vvw.3_Missense_Mutation_p.S314F|DENND2A_uc003vvx.3_Missense_Mutation_p.S314F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	314										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTTCACagaggaaggtggggg	0.587													A	140301257	G	A	140301257	3	1	114	1	0	0	0	0	1	0	0	0	4429	1174	41	3	2160	3	DENND2A	7	140301257	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	8428924	140301257	18837406	27	7582											
ODF2	4957	broad.mit.edu	37	9	131233667	131233667	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:131233667C>T	uc004bvc.3	+	5	779	c.693C>T	c.(691-693)caC>caT	p.H231H	ODF2_uc011maz.2_Silent_p.H167H|ODF2_uc011mba.2_Intron|ODF2_uc010myb.3_Silent_p.H143H|ODF2_uc011mbc.2_Silent_p.H86H|ODF2_uc022boj.1_Silent_p.H192H|ODF2_uc004bva.3_Silent_p.H211H|ODF2_uc004bvb.3_Silent_p.H143H|ODF2_uc011mbd.2_Silent_p.H167H|ODF2_uc011mbe.2_Silent_p.H162H|ODF2_uc010myc.3_Silent_p.H110H|ODF2_uc011mbf.2_Silent_p.H148H|ODF2_uc004bvd.4_Silent_p.H167H|ODF2_uc004bve.3_Silent_p.H148H	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	167					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGGCCCACGAACTGGCTG	0.577													T	131233667	C	T	131233667	2	4	114	1	0	0	0	0	0	0	0	1	10827	535	19	1		1	ODF2	9	131233667	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08		131233667	9979764	28	7583											
PRDM12	59335	broad.mit.edu	37	9	133540113	133540113	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:133540113G>A	uc004bzt.1	+	0	133	c.73G>A	c.(73-75)Gcc>Acc	p.A25T		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		ACTGGCGCTGGCCGAGGTTAT	0.706													A	133540113	G	A	133540113	3	1	114	1	0	0	0	0	1	0	0	0	12453	1203	42	3	75	3	PRDM12	9	133540113	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	2306446	133540113	7673318	29	7584			1	24		2	2	12	N	G_C	2.345181e-05
PRDM12	59335	broad.mit.edu	37	9	133540124	133540124	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:133540124C>T	uc004bzt.1	+	0	144	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CCGAGGTTATCACCTCCGACA	0.687													T	133540124	C	T	133540124	2	4	114	1	0	0	0	0	0	0	0	1	12453	816	29	3		3	PRDM12	9	133540124	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08	11	133540124	7673307	30	7585			1	24		2	2	12	N	G_C	2.345181e-05
STAMBPL1	57559	broad.mit.edu	37	10	90674395	90674395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr10:90674395G>T	uc001kfk.3	+	6	1306	c.883G>T	c.(883-885)Gga>Tga	p.G295*	STAMBPL1_uc010qmx.1_Nonsense_Mutation_p.G295*|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Nonsense_Mutation_p.G295*|STAMBPL1_uc001kfn.3_Nonsense_Mutation_p.G129*	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	295	MPN.						metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAACCTGTGGAATACTCTG	0.333													T	90674395	G	T	90674395	4	4	114	1	0	0	0	0	0	1	0	0	15250	1349	47	5	905	5	STAMBPL1	10	90674395	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		90674395	44860352	31	7586											
MUC5B	727897	broad.mit.edu	37	11	1266158	1266158	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr11:1266158C>G	uc001lta.3	+	30	8107	c.8048C>G	c.(8047-8049)aCc>aGc	p.T2683S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2683	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCACACAGACCAGTGGTACT	0.622													G	1266158	C	G	1266158	3	3	114	1	0	0	0	0	1	0	0	0	9979	507	18	5	8179	5	MUC5B	11	1266158	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08		1266158	133740358	32	7587											
IGSF22	283284	broad.mit.edu	37	11	18731138	18731138	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr11:18731138G>A	uc009yht.2	-	17	2984	c.2794C>T	c.(2794-2796)Ccc>Tcc	p.P932S	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	831										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TAGCCAGAGGGTGGGTCTCCC	0.582													A	18731138	G	A	18731138	3	1	114	1	0	0	0	0	1	0	0	0	7600	1261	44	3	1210	3	IGSF22	11	18731138	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	17464980	18731138	116275378	33	7588											
SLC2A14	144195	broad.mit.edu	37	12	7980153	7980153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:7980153G>A	uc010sgh.2	-	5	937	c.916C>T	c.(916-918)Cga>Tga	p.R306*	SLC2A14_uc001qtk.3_Nonsense_Mutation_p.R291*|SLC2A14_uc001qtl.3_Nonsense_Mutation_p.R268*|SLC2A14_uc001qtm.3_Nonsense_Mutation_p.R268*|SLC2A14_uc010sgg.2_Nonsense_Mutation_p.R182*|SLC2A14_uc001qtn.3_Nonsense_Mutation_p.R291*|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	291					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATGGGCTGTCGGTAGCTGGAC	0.478													A	7980153	G	A	7980153	4	1	114	1	0	0	0	0	0	1	0	0	14543	1124	39	2	711	2	SLC2A14	12	7980153	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		7980153	125871742	34	7589											
SLC2A3	6515	broad.mit.edu	37	12	8082342	8082342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:8082342G>A	uc001qtr.3	-	5	1061	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	267					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ATGGGCTGTCGGTAGCTGGAC	0.473													A	8082342	G	A	8082342	4	1	114	1	0	0	0	0	0	1	0	0	14545	1124	39	2	711	2	SLC2A3	12	8082342	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	102189	8082342	125769553	35	7590											
IGF1	3479	broad.mit.edu	37	12	102813354	102813354	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:102813354A>G	uc001tjp.4	-	2	554	c.335T>C	c.(334-336)cTc>cCc	p.L112P	IGF1_uc001tjn.2_Missense_Mutation_p.L96P|IGF1_uc001tjm.2_Missense_Mutation_p.L112P|IGF1_uc001tjo.2_Missense_Mutation_p.L112P	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	112	D.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GGCAGGCTTGAGGGGTGCGCA	0.617													G	102813354	A	G	102813354	3	3	114	1	0	0	0	0	1	0	0	0	7570	304	11	4	324	4	IGF1	12	102813354	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	94731012	102813354	31038541	36	7591											
RASAL1	8437	broad.mit.edu	37	12	113565893	113565893	+	Nonsense_Mutation	SNP	G	G	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:113565893G>C	uc001tun.2	-	3	514	c.213C>G	c.(211-213)taC>taG	p.Y71*	RASAL1_uc010syp.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tul.3_Nonsense_Mutation_p.Y71*|RASAL1_uc001tum.2_Nonsense_Mutation_p.Y71*|RASAL1_uc010syq.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tuo.4_Nonsense_Mutation_p.Y71*|RASAL1_uc010syr.2_Nonsense_Mutation_p.Y71*	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	71	C2 1.				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			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						CATCCAGCACGTAGAAGGCCA	0.607													C	113565893	G	C	113565893	4	2	114	1	0	0	0	0	0	1	0	0	13063	1140	40	5	2277	5	RASAL1	12	113565893	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	10752539	113565893	20286002	37	7592											
OR10G2	26534	broad.mit.edu	37	14	22102746	22102746	+	Missense_Mutation	SNP	G	G	A	rs141025992	byFrequency	TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:22102746G>A	uc010tmc.2	-	0	253	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	85			R -> L (in dbSNP:rs41314525).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		AAAATAAGCCGAGGAACGGTG	0.527													A	22102746	G	A	22102746	3	1	114	1	0	0	0	0	1	0	0	0	10899	1057	37	2	682	2	OR10G2	14	22102746	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		22102746	85246794	38	7593											
EAPP	55837	broad.mit.edu	37	14	35005432	35005432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:35005432G>A	uc001wsd.1	-	1	233	c.124C>T	c.(124-126)Cga>Tga	p.R42*		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	42					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATGAGTTTTCGTTTTTGGTCA	0.318													A	35005432	G	A	35005432	4	1	114	1	0	0	0	0	0	1	0	0	4877	1153	40	1	753	1	EAPP	14	35005432	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	12902686	35005432	72344108	39	7594											
C14orf49	161176	broad.mit.edu	37	14	95899695	95899695	+	Missense_Mutation	SNP	G	G	A	rs141951711		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:95899695G>A	uc001yei.4	-	14	2605	c.2590C>T	c.(2590-2592)Cgt>Tgt	p.R864C	C14orf49_uc010avi.3_Missense_Mutation_p.R859C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	864			R -> H (in dbSNP:rs17092216).		cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GGCCCGAGACGAAGGAGGTTC	0.597													A	95899695	G	A	95899695	3	1	114	1	0	0	0	0	1	0	0	0	1776	1058	37	2	349	2	C14orf49	14	95899695	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	60894263	95899695	11449845	40	7595											
ARIH1	25820	broad.mit.edu	37	15	72767077	72767077	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr15:72767077G>A	uc002aut.4	+	0	411	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA.	33	Asp/Glu-rich (acidic).				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						cgaagacgacgacgaGCCGGA	0.682													A	72767077	G	A	72767077	3	1	114	1	0	0	0	0	1	0	0	0	923	1058	37	2	99	2	ARIH1	15	72767077	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		72767077	29764315	41	7596											
ACSM2A	123876	broad.mit.edu	37	16	20492162	20492162	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:20492162G>A	uc010bwe.3	+	12	1667	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_uc010vax.1_Silent_p.S397S|ACSM2A_uc002dhf.4_Silent_p.S476S|ACSM2A_uc002dhg.4_Silent_p.S476S|ACSM2A_uc010vay.2_Silent_p.S397S|ACSM2A_uc002dhh.4_Silent_p.S106S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	476					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567													A	20492162	G	A	20492162	2	1	114	1	0	0	0	0	0	0	0	1	183	1103	39	2		2	ACSM2A	16	20492162	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		20492162	69862591	42	7597											
HS3ST4	9951	broad.mit.edu	37	16	26147419	26147419	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:26147419G>A	uc002dof.3	+	1	1613	c.1221G>A	c.(1219-1221)agG>agA	p.R407R		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	407					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GTGCCCCGAGGTGCTTAGGCA	0.473													A	26147419	G	A	26147419	2	1	114	1	0	0	0	0	0	0	0	1	7367	1252	44	3		3	HS3ST4	16	26147419	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08	5655257	26147419	64207334	43	7598											
SEZ6L2	26470	broad.mit.edu	37	16	29897033	29897033	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:29897033C>T	uc010vec.2	-	7	1491	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.V346M|SEZ6L2_uc002dur.4_Missense_Mutation_p.V346M|SEZ6L2_uc002duq.4_Missense_Mutation_p.V416M|SEZ6L2_uc010ved.2_Missense_Mutation_p.V372M|SEZ6L2_uc002dus.4_Missense_Mutation_p.V302M	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	416	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCATAGATCACGGGGGATAGG	0.612													T	29897033	C	T	29897033	3	4	114	1	0	0	0	0	1	0	0	0	14144	536	19	1	1569	1	SEZ6L2	16	29897033	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	3749614	29897033	60457720	44	7599											
LONP2	83752	broad.mit.edu	37	16	48303999	48303999	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:48303999G>A	uc002efi.1	+	6	1144	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.R308K	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	352					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTGAAGAAAAGAGTACTGGAA	0.443													A	48303999	G	A	48303999	3	1	114	1	0	0	0	0	1	0	0	0	8893	942	33	3	1081	3	LONP2	16	48303999	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	18406966	48303999	42050754	45	7600											
PMFBP1	83449	broad.mit.edu	37	16	72184650	72184650	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:72184650C>T	uc002fcc.4	-	4	665	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	PMFBP1_uc002fcd.3_Missense_Mutation_p.A165T|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A20T	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	165										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCGGCCAAGGCGAGTTGCTCC	0.493													T	72184650	C	T	72184650	3	4	114	1	0	0	0	0	1	0	0	0	12134	768	27	1	2658	1	PMFBP1	16	72184650	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	23880651	72184650	18170103	46	7601											
TP53	7157	broad.mit.edu	37	17	7578440	7578440	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:7578440T>C	uc002gim.2	-	4	684	c.490A>G	c.(490-492)Aag>Gag	p.K164E	TP53_uc002gig.1_Missense_Mutation_p.K164E|TP53_uc002gih.3_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E|TP53_uc010vug.2_Missense_Mutation_p.K125E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	164	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (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.Y163C(112)|p.K164E(28)|p.K164*(22)|p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163*(7)|p.K164N(6)|p.Y163S(5)|p.K164M(4)|p.K164Q(4)|p.K164fs*6(4)|p.K164fs*3(4)|p.Y163fs*1(3)|p.Y163Y(3)|p.Y163D(3)|p.K164fs*5(3)|p.V157_C176del20(2)|p.Y163_Q165delYKQ(2)|p.P151_V173del23(2)|p.Y163fs*7(2)|p.K164T(2)|p.K164fs*17(2)|p.K164K(2)|p.Y163fs*14(2)|p.A159_Q167delAMAIYKQSQ(2)|p.I162_Y163>N(1)|p.K164_P219del(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.I162_Y163delIY(1)|p.K71E(1)|p.K164R(1)|p.K32E(1)|p.Y163fs*18(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)		TGTGACTGCTTGTAGATGGCC	0.627		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)			C	7578440	T	C	7578440	3	2	114	1	0	0	0	0	1	0	0	0	16378	1821	63	4	808	4	TP53	17	7578440	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08		7578440	73616770	47	7602											
MYOCD	93649	broad.mit.edu	37	17	12655804	12655804	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:12655804G>A	uc002gno.2	+	9	1498	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	MYOCD_uc002gnn.2_Missense_Mutation_p.R400Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R304Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R119Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	400	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCATGGACCGGCTTCGACCC	0.507													A	12655804	G	A	12655804	3	1	114	1	0	0	0	0	1	0	0	0	10087	1116	39	2	1237	2	MYOCD	17	12655804	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	5077364	12655804	68539406	48	7603											
KRT12	3859	broad.mit.edu	37	17	39019850	39019850	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:39019850G>A	uc002hvk.2	-	4	1006	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	328	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ATCTCCTTACGGAGCTCCCCG	0.567													A	39019850	G	A	39019850	3	1	114	1	0	0	0	0	1	0	0	0	8449	1116	39	2	518	2	KRT12	17	39019850	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	26364046	39019850	42175360	49	7604											
COL1A1	1277	broad.mit.edu	37	17	48275131	48275131	+	Nonsense_Mutation	SNP	G	G	A	rs72667036		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:48275131G>A	uc002iqm.3	-	8	784	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	220	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.R220*(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGACCTCGGGGACCCATG	0.507			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						A	48275131	G	A	48275131	4	1	114	1	0	0	0	0	0	1	0	0	3677	1124	39	2	3908	2	COL1A1	17	48275131	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	9255281	48275131	32920079	50	7605											
ABCA6	23460	broad.mit.edu	37	17	67098976	67098976	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:67098976C>A	uc002jhw.1	-	21	3049	c.2874_splice	c.e21+1	p.K958_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	958					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCAAACATACCTTTTGTTTAC	0.313													A	67098976	C	A	67098976	3	1	114	1	0	0	0	0	1	0	0	0	36	695	24	5	2055	5	ABCA6	17	67098976	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	18823845	67098976	14096234	51	7606											
SDK2	54549	broad.mit.edu	37	17	71426663	71426663	+	Nonsense_Mutation	SNP	G	G	A	rs147877604		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:71426663G>A	uc010dfm.3	-	11	1570	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	SDK2_uc010dfn.2_Nonsense_Mutation_p.R203*	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	524	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATGGTTACTCGGGGGTCGTGG	0.602													A	71426663	G	A	71426663	4	1	114	1	0	0	0	0	0	1	0	0	13969	1124	39	2	5084	2	SDK2	17	71426663	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	4327687	71426663	9768547	52	7607											
CELF4	56853	broad.mit.edu	37	18	34853005	34853005	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr18:34853005G>A	uc002lae.2	-	6	1319	c.923C>T	c.(922-924)gCg>gTg	p.A308V	CELF4_uc021uix.1_Missense_Mutation_p.A306V|CELF4_uc021uiy.1_Missense_Mutation_p.A307V|CELF4_uc002lag.2_Missense_Mutation_p.A298V|CELF4_uc002laf.2_Missense_Mutation_p.A303V|CELF4_uc002lai.2_Missense_Mutation_p.A293V|CELF4_uc002lah.2_Missense_Mutation_p.A33V|CELF4_uc002laj.1_Silent_p.G143G	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	308	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A308V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGGTGCGGCCGCCAGGCCATT	0.652													A	34853005	G	A	34853005	3	1	114	1	0	0	0	0	1	0	0	0	3218	1087	38	1	561	1	CELF4	18	34853005	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		34853005	43224243	53	7608											
MUC16	94025	broad.mit.edu	37	19	9067037	9067037	+	Silent	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:9067037A>G	uc002mkp.3	-	2	20613	c.20409T>C	c.(20407-20409)tcT>tcC	p.S6803S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6805	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						GCATCAGGGAAGAGGAGAAGC	0.473													G	9067037	A	G	9067037	2	3	114	1	0	0	0	0	0	0	0	1	9973	59	3	4		4	MUC16	19	9067037	Silent	SNP	A	TCGA-12-0619-01A-01D-1492-08		9067037	50061946	54	7609											
GLT25D1	79709	broad.mit.edu	37	19	17679388	17679388	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:17679388C>T	uc002nhc.1	+	4	707	c.695C>T	c.(694-696)cCc>cTc	p.P232L	GLT25D1_uc010eax.1_5'UTR	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	232					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						TTTGCAGTTCCCATGGTGCAC	0.617													T	17679388	C	T	17679388	3	4	114	1	0	0	0	0	1	0	0	0	6466	623	22	3	713	3	GLT25D1	19	17679388	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	8612351	17679388	41449595	55	7610											
RSPH6A	81492	broad.mit.edu	37	19	46318327	46318327	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:46318327C>T	uc002pdm.3	-	0	279	c.108G>A	c.(106-108)ctG>ctA	p.L36L		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	36						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTCCGCTGCCAGGGCCTGAG	0.687													T	46318327	C	T	46318327	2	4	114	1	0	0	0	0	0	0	0	1	13707	581	21	3		3	RSPH6A	19	46318327	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08	28638939	46318327	12810656	56	7611											
SHANK1	50944	broad.mit.edu	37	19	51205808	51205808	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:51205808G>A	uc002psx.1	-	10	1682	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	555	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGCGTCCGGGTACCGCTGAG	0.697													A	51205808	G	A	51205808	3	1	114	1	0	0	0	0	1	0	0	0	14264	1261	44	3	4874	3	SHANK1	19	51205808	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	4887481	51205808	7923175	57	7612											
GPR32	2854	broad.mit.edu	37	19	51274077	51274077	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:51274077C>T	uc010ycf.2	+	0	220	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	74						integral to plasma membrane	N-formyl peptide receptor activity			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)		CCGTATGGCACGCACGGTCTC	0.572													T	51274077	C	T	51274077	3	4	114	1	0	0	0	0	1	0	0	0	6688	536	19	1	222	1	GPR32	19	51274077	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	68269	51274077	7854906	58	7613											
TTYH1	57348	broad.mit.edu	37	19	54947301	54947304	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:54947301_54947304delTCTA	uc002qfr.3	+	11	1421_1424	c.1299_1302delTCTA	c.(1297-1302)cgtctafs	p.R433fs	TTYH1_uc010yey.2_3'UTR|TTYH1_uc002qfq.3_Frame_Shift_Del_p.S449fs|TTYH1_uc002qft.3_Frame_Shift_Del_p.S450fs	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	0	Poly-Asp.				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGGCAGTCGTCTATCTGAGCCCC	0.642													-	54947304	TCTA	-	54947301	7	5	114	1	0	1	0	1	0	0	0	0	16736	1667	58	0	1395	0	TTYH1	19	54947301	Frame_Shift_Del	DEL	TCTA	TCGA-12-0619-01A-01D-1492-08	3673224	54947301	4181682	59	7614											
SBK2	646643	broad.mit.edu	37	19	56047417	56047417	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:56047417C>T	uc010ygc.2	-	1	260	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	82	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACCTTTCTGACGATGGGTGAC	0.682													T	56047417	C	T	56047417	3	4	114	1	0	0	0	0	1	0	0	0	13861	536	19	1	812	1	SBK2	19	56047417	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	1100116	56047417	3081566	60	7615											
HCK	3055	broad.mit.edu	37	20	30672225	30672225	+	Silent	SNP	G	G	A	rs147876395		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr20:30672225G>A	uc002wxh.3	+	7	951	c.714G>A	c.(712-714)tcG>tcA	p.S238S	HCK_uc010gdy.3_Silent_p.S218S|HCK_uc021wbv.1_Silent_p.S217S|HCK_uc002wxi.3_Silent_p.S216S	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	238	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S217S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAAACTGTCGGTGCCCTGCA	0.587													A	30672225	G	A	30672225	2	1	114	1	0	0	0	0	0	0	0	1	6994	1103	39	2		2	HCK	20	30672225	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		30672225	32353295	61	7616											
RIMBP3	85376	broad.mit.edu	37	22	20458191	20458191	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr22:20458191G>A	uc002zsd.4	-	0	3596	c.3111C>T	c.(3109-3111)ggC>ggT	p.G1037G	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGCAGCTCACGCCCGCTGGGG	0.642													A	20458191	G	A	20458191	2	1	114	1	0	0	0	0	0	0	0	1	13364	1074	38	1		1	RIMBP3	22	20458191	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		20458191	30846375	62	7617											
CSF2RB	1439	broad.mit.edu	37	22	37326752	37326752	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr22:37326752G>A	uc003aqa.4	+	7	1109	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	CSF2RB_uc003aqc.4_Missense_Mutation_p.G304S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	298					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGGGGCTCGGCAGCCTCCA	0.647													A	37326752	G	A	37326752	3	1	114	1	0	0	0	0	1	0	0	0	3935	1116	39	2	918	2	CSF2RB	22	37326752	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	16868561	37326752	13977814	63	7618											
KLHL4	56062	broad.mit.edu	37	X	86887278	86887278	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:86887278C>A	uc004efa.2	+	6	1575	c.1393C>A	c.(1393-1395)Cgt>Agt	p.R465S	KLHL4_uc004efb.2_Missense_Mutation_p.R465S	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	465						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.R465H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CATGAATGGCCGTAGGCTTCA	0.393													A	86887278	C	A	86887278	3	1	114	1	0	0	0	0	1	0	0	0	8391	652	23	5	1419	5	KLHL4	23	86887278	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08		86887278	68383282	64	7619											
MAGEC2	51438	broad.mit.edu	37	X	141291741	141291741	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:141291741G>T	uc022cfj.1	-	0	33	c.33C>A	c.(31-33)aaC>aaA	p.N11K	MAGEC2_uc004fbu.2_Missense_Mutation_p.N11K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	11						cytoplasm|nucleus		p.N11K(2)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGTCAACGTTGCGGAATG	0.537										HNSCC(46;0.14)			T	141291741	G	T	141291741	3	4	114	1	0	0	0	0	1	0	0	0	9181	1136	40	5	1092	5	MAGEC2	23	141291741	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	54404463	141291741	13978819	65	7620											
CD99L2	83692	broad.mit.edu	37	X	149963729	149963729	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:149963729T>C	uc004fek.3	-	5	620	c.392A>G	c.(391-393)gAt>gGt	p.D131G	CD99L2_uc011myb.2_Intron|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.D127G|CD99L2_uc004fem.3_Missense_Mutation_p.D78G|CD99L2_uc004fen.3_Missense_Mutation_p.D55G	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	127					cell adhesion	cell junction|integral to membrane		p.R131Q(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATTTCGATCATCCAGGGC	0.448													C	149963729	T	C	149963729	3	2	114	1	0	0	0	0	1	0	0	0	3051	1435	50	4	432	4	CD99L2	23	149963729	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08	8671988	149963729	5306831	66	7621											
PADI6	353238	broad.mit.edu	37	1	17699701	17699701	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:17699701G>A	uc001bak.1	+	1	267	c.267G>A	c.(265-267)tcG>tcA	p.S89S		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	81					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			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)	AGATGACATCGCCCAGCCCTT	0.602													A	17699701	G	A	17699701	2	1	115	1	0	0	0	0	0	0	0	1	11381	1074	38	1		1	PADI6	1	17699701	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08		17699701	231550920	1	7622											
NOTCH2	4853	broad.mit.edu	37	1	120539904	120539904	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:120539904delC	uc001eik.3	-	3	764	c.467delG	c.(466-468)ggafs	p.G156fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.G156fs|NOTCH2_uc021osy.1_Frame_Shift_Del_p.G117fs|NOTCH2_uc001eim.4_Frame_Shift_Del_p.G73fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	156	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGGTACTTCCATTTGCACA	0.488			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				-	120539904	C	-	120539904	7	5	115	1	0	1	0	1	0	0	0	0	10548	855	30	0	7072	0	NOTCH2	1	120539904	Frame_Shift_Del	DEL	C	TCGA-12-0688-01A-02D-1492-08	102840203	120539904	128710717	2	7623											
HRNR	388697	broad.mit.edu	37	1	152193158	152193158	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:152193158G>A	uc001ezt.1	-	2	1023	c.947C>T	c.(946-948)tCg>tTg	p.S316L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	316					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGCCCCGAACCGGACCC	0.607													A	152193158	G	A	152193158	3	1	115	1	0	0	0	0	1	0	0	0	7359	1059	37	2	7609	2	HRNR	1	152193158	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	31653254	152193158	97057463	3	7624											
IVL	3713	broad.mit.edu	37	1	152883944	152883944	+	Silent	SNP	A	A	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:152883944A>C	uc021ozl.1	+	0	1671	c.1671A>C	c.(1669-1671)ccA>ccC	p.P557P	IVL_uc001fau.3_Silent_p.P557P	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	557					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACATTCAACCAGCCCTGCCCA	0.587													C	152883944	A	C	152883944	2	2	115	1	0	0	0	0	0	0	0	1	7929	175	7	5		5	IVL	1	152883944	Silent	SNP	A	TCGA-12-0688-01A-02D-1492-08	690786	152883944	96366677	4	7625											
OR2T3	343173	broad.mit.edu	37	1	248636836	248636836	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248636836delC	uc001iel.1	+	0	185	c.185delC	c.(184-186)accfs	p.T62fs		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CGCCTCCACACCCCCATGTAC	0.567													-	248636836	C	-	248636836	7	5	115	1	0	1	0	1	0	0	0	0	11023	507	18	0	187	0	OR2T3	1	248636836	Frame_Shift_Del	DEL	C	TCGA-12-0688-01A-02D-1492-08	95752892	248636836	613785	5	7626											
OR2T34	127068	broad.mit.edu	37	1	248737870	248737870	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248737870delG	uc001iep.1	-	0	189	c.189delC	c.(187-189)cccfs	p.P63fs		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			AGAAGTACATGGGGGTGTGGA	0.562													-	248737870	G	-	248737870	7	5	115	1	0	1	0	1	0	0	0	0	11025	1335	47	0	771	0	OR2T34	1	248737870	Frame_Shift_Del	DEL	G	TCGA-12-0688-01A-02D-1492-08	101034	248737870	512751	6	7627											
OR14I1	401994	broad.mit.edu	37	1	248845184	248845184	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248845184T>C	uc001ieu.1	-	0	422	c.422A>G	c.(421-423)cAg>cGg	p.Q141R		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACTGCCATCTGATAGCACCC	0.542													C	248845184	T	C	248845184	3	2	115	1	0	0	0	0	1	0	0	0	10947	1580	55	4	517	4	OR14I1	1	248845184	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	107314	248845184	405437	7	7628											
VRK2	7444	broad.mit.edu	37	2	58373508	58373508	+	Missense_Mutation	SNP	G	G	A	rs139700760		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr2:58373508G>A	uc002rzo.2	+	14	1826	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	VRK2_uc010fcb.2_Missense_Mutation_p.E361K|VRK2_uc002rzt.3_Missense_Mutation_p.E243K|VRK2_uc002rzs.3_Missense_Mutation_p.E361K|VRK2_uc002rzv.3_Missense_Mutation_p.E361K|VRK2_uc010fcd.3_Missense_Mutation_p.E338K|VRK2_uc002rzu.3_Missense_Mutation_p.E361K|VRK2_uc010fcc.3_Missense_Mutation_p.E243K|VRK2_uc002rzp.3_Missense_Mutation_p.E361K|VRK2_uc010ypg.2_Missense_Mutation_p.E361K	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	361						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TAGGTTAATCGAAAAAAAAGT	0.383													A	58373508	G	A	58373508	3	1	115	1	0	0	0	0	1	0	0	0	17217	1059	37	2	1123	2	VRK2	2	58373508	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		58373508	184825865	8	7629											
CBLB	868	broad.mit.edu	37	3	105400636	105400636	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:105400636A>G	uc003dwc.3	-	14	2550	c.2228T>C	c.(2227-2229)cTg>cCg	p.L743P	CBLB_uc003dwa.3_Missense_Mutation_p.L2P|CBLB_uc011bhi.2_Missense_Mutation_p.L765P|CBLB_uc003dwd.2_Missense_Mutation_p.L743P|CBLB_uc003dwe.2_Missense_Mutation_p.L743P	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	743	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTTCCATTCAGCATACAGTG	0.343			Mis S		AML								G	105400636	A	G	105400636	3	3	115	1	0	0	0	0	1	0	0	0	2701	188	7	4	740	4	CBLB	3	105400636	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08		105400636	92621794	9	7630											
PHLDB2	90102	broad.mit.edu	37	3	111632481	111632481	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:111632481C>T	uc010hqa.3	+	2	2062	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	PHLDB2_uc003dyc.3_Missense_Mutation_p.P578S|PHLDB2_uc003dyd.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyg.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyh.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyi.3_Missense_Mutation_p.P137S|PHLDB2_uc003dyf.4_Missense_Mutation_p.P551S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	551						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CACCCGGACTCCTCCACCACC	0.512													T	111632481	C	T	111632481	3	4	115	1	0	0	0	0	1	0	0	0	11852	855	30	3	1742	3	PHLDB2	3	111632481	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	6231845	111632481	86389949	10	7631											
CCDC48	79825	broad.mit.edu	37	3	128757682	128757682	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:128757682G>A	uc011bkt.2	+	6	1599	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	Homo sapiens coiled-coil domain containing 48 (CCDC48), mRNA.	533										breast(1)|kidney(2)|lung(2)|skin(1)	6						AGAACATATCGAAAAGAGCCC	0.552													A	128757682	G	A	128757682	2	1	115	1	0	0	0	0	0	0	0	1	2819	1045	37	2		2	CCDC48	3	128757682	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	17125201	128757682	69264748	11	7632											
LRRC33	375387	broad.mit.edu	37	3	196388089	196388089	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:196388089C>T	uc003fwv.3	+	2	1679	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	525						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCCTCCACTCCAGCTTTATGG	0.567													T	196388089	C	T	196388089	2	4	115	1	0	0	0	0	0	0	0	1	8988	581	21	3		3	LRRC33	3	196388089	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	67630407	196388089	1634341	12	7633											
FGFBP2	83888	broad.mit.edu	37	4	15964315	15964315	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:15964315C>T	uc003gon.3	-	0	545	c.438G>A	c.(436-438)ggG>ggA	p.G146G	FGFBP2_uc021xmm.1_Silent_p.G146G	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA.	146						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAGATGGCGTCCCAGCCTCAG	0.617													T	15964315	C	T	15964315	2	4	115	1	0	0	0	0	0	0	0	1	5861	842	30	3		3	FGFBP2	4	15964315	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		15964315	175189961	13	7634											
STAP1	26228	broad.mit.edu	37	4	68449405	68449405	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:68449405T>C	uc003hde.4	+	5	726	c.644T>C	c.(643-645)aTt>aCt	p.I215T	STAP1_uc003hdf.3_Missense_Mutation_p.I215T	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	215	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCCATCACTATTCGGCAGGAG	0.408													C	68449405	T	C	68449405	3	2	115	1	0	0	0	0	1	0	0	0	15251	1493	52	4	666	4	STAP1	4	68449405	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	52485090	68449405	122704871	14	7635											
PDHA2	5161	broad.mit.edu	37	4	96761326	96761326	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:96761326G>A	uc003htr.4	+	0	88	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	9					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R8R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CATCTCCCGCGTGTTGAGGCG	0.557													A	96761326	G	A	96761326	3	1	115	1	0	0	0	0	1	0	0	0	11665	1145	40	1	27	1	PDHA2	4	96761326	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	28311921	96761326	94392950	15	7636											
EGF	1950	broad.mit.edu	37	4	110908980	110908980	+	Silent	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:110908980T>C	uc003hzy.4	+	16	3024	c.2572T>C	c.(2572-2574)Ttg>Ctg	p.L858L	EGF_uc011cfu.2_Silent_p.L816L|EGF_uc011cfv.2_Silent_p.L858L|EGF_uc010imk.3_Intron	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	858	EGF-like 6.				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			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)	ATGTCAGTGTTTGAAAGGATT	0.423													C	110908980	T	C	110908980	2	2	115	1	0	0	0	0	0	0	0	1	4962	1838	64	4		4	EGF	4	110908980	Silent	SNP	T	TCGA-12-0688-01A-02D-1492-08	14147654	110908980	80245296	16	7637											
SLC6A19	340024	broad.mit.edu	37	5	1217004	1217004	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:1217004G>A	uc003jbw.4	+	7	1173	c.1117G>A	c.(1117-1119)Gcg>Acg	p.A373T		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	373					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P372P(1)|p.A373V(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)			CTCCGACCCCGCGGCCTACGC	0.622													A	1217004	G	A	1217004	3	1	115	1	0	0	0	0	1	0	0	0	14682	1087	38	1	1147	1	SLC6A19	5	1217004	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		1217004	179698256	17	7638											
PIK3R1	5295	broad.mit.edu	37	5	67591086	67591086	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:67591086A>G	uc003jva.3	+	12	2259	c.1679A>G	c.(1678-1680)gAc>gGc	p.D560G	PIK3R1_uc003jvc.3_Missense_Mutation_p.D260G|PIK3R1_uc003jvd.3_Missense_Mutation_p.D290G|PIK3R1_uc003jve.3_Missense_Mutation_p.D239G|PIK3R1_uc021xzn.1_Missense_Mutation_p.D197G|PIK3R1_uc011crb.2_Missense_Mutation_p.D230G	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	560					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560_S565del(2)|p.R557_K561>Q(2)|p.0?(1)|p.?(1)|p.D560H(1)|p.R557_D560del(1)|p.I559V(1)|p.D560Y(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAGAAATTGACAAACGTATG	0.358			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591086	A	G	67591086	3	3	115	1	0	0	0	0	1	0	0	0	11918	275	10	4	1855	4	PIK3R1	5	67591086	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08	66374082	67591086	113324174	18	7639											
GRIA1	2890	broad.mit.edu	37	5	153065877	153065877	+	Silent	SNP	C	C	T	rs140876127		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:153065877C>T	uc011dcy.2	+	7	1179	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D	GRIA1_uc003lva.4_Silent_p.D374D|GRIA1_uc003luy.4_Silent_p.D374D|GRIA1_uc003luz.4_Silent_p.D279D|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.D294D|GRIA1_uc011dcx.2_Silent_p.D305D|GRIA1_uc011dcz.2_Silent_p.D384D|GRIA1_uc010jia.1_Silent_p.D354D	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	374					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding	p.D374D(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGAAACATGACGGCATCCGAA	0.502													T	153065877	C	T	153065877	2	4	115	1	0	0	0	0	0	0	0	1	6767	535	19	1		1	GRIA1	5	153065877	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	85474791	153065877	27849383	19	7640											
FLT4	2324	broad.mit.edu	37	5	180048603	180048603	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:180048603G>A	uc003mlz.4	-	12	2038	c.1959C>T	c.(1957-1959)tgC>tgT	p.C653C	FLT4_uc003mma.4_Silent_p.C653C|FLT4_uc003mmb.1_Silent_p.C186C|FLT4_uc011dgy.2_Silent_p.C653C	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	653	Ig-like C2-type 6.				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)	CTTGCACTTCGCACACATAGT	0.697													A	180048603	G	A	180048603	2	1	115	1	0	0	0	0	0	0	0	1	5944	1079	38	1		1	FLT4	5	180048603	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	26982726	180048603	866657	20	7641											
IRF4	3662	broad.mit.edu	37	6	397159	397159	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:397159G>A	uc003msz.4	+	4	670	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	IRF4_uc010jne.2_Missense_Mutation_p.V182I|IRF4_uc003mtb.4_Missense_Mutation_p.V181I|IRF4_uc021ykl.1_Missense_Mutation_p.V28I|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.V12I	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	182					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAGGGACTACGTCCCGGATCA	0.567			T	IGH@	MM								A	397159	G	A	397159	3	1	115	1	0	0	0	0	1	0	0	0	7832	1145	40	1	558	1	IRF4	6	397159	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		397159	170717908	21	7642											
OR10C1	442194	broad.mit.edu	37	6	29407979	29407979	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:29407979C>T	uc011dlp.2	+	0	264	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTTCTTCCTGCGCACCCTCTC	0.572													T	29407979	C	T	29407979	3	4	115	1	0	0	0	0	1	0	0	0	10898	768	27	1	189	1	OR10C1	6	29407979	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	29010820	29407979	141707088	22	7643											
NFKBIE	4794	broad.mit.edu	37	6	44229489	44229489	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:44229489C>T	uc003oxe.1	-	2	1007	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_004556	NP_004547	O00221	IKBE_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.	328					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGGCTGTGTCACCATGCCGG	0.652													T	44229489	C	T	44229489	3	4	115	1	0	0	0	0	1	0	0	0	10380	826	29	3	536	3	NFKBIE	6	44229489	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	14821510	44229489	126885578	23	7644											
FAM83B	222584	broad.mit.edu	37	6	54806091	54806091	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:54806091G>A	uc003pck.3	+	4	2438	c.2322G>A	c.(2320-2322)aaG>aaA	p.K774K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	774										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)					GGTCTCAGAAGTTAAGGTCAT	0.363													A	54806091	G	A	54806091	2	1	115	1	0	0	0	0	0	0	0	1	5634	1020	36	3		3	FAM83B	6	54806091	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	10576602	54806091	116308976	24	7645											
LPA	4018	broad.mit.edu	37	6	161006177	161006177	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:161006177C>T	uc003qtl.3	-	26	4310	c.4190G>A	c.(4189-4191)cGa>cAa	p.R1397Q		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3905	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAGTGTGCCTCGATAACTCTG	0.468													T	161006177	C	T	161006177	3	4	115	1	0	0	0	0	1	0	0	0	8903	884	31	2	1988	2	LPA	6	161006177	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	106200086	161006177	10108890	25	7646											
SP4	6671	broad.mit.edu	37	7	21550871	21550871	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:21550871A>G	uc003sva.3	+	5	2520	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S	SP4_uc003svb.3_Missense_Mutation_p.N467S	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	780					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.N780N(1)|p.T779N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GTTTCAACCAACATGGAAGAA	0.423													G	21550871	A	G	21550871	3	3	115	1	0	0	0	0	1	0	0	0	14966	43	2	4	2361	4	SP4	7	21550871	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08		21550871	137587792	26	7647											
PDE1C	5137	broad.mit.edu	37	7	32091191	32091191	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:32091191T>C	uc003tcm.2	-	2	563	c.102_splice	c.e2-1	p.L34_splice	PDE1C_uc003tcn.1_Splice_Site_p.L34_splice|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Splice_Site_p.L34_splice|PDE1C_uc003tcs.3_Splice_Site_p.L34_splice	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	34					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			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)			TTATATTTCCTCCTGTAAGAA	0.468													C	32091191	T	C	32091191	3	2	115	1	0	0	0	0	1	0	0	0	11635	1565	54	4	1865	4	PDE1C	7	32091191	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	10540320	32091191	127047472	27	7648											
ASL	435	broad.mit.edu	37	7	65554649	65554649	+	Silent	SNP	C	C	G	rs140532520	byFrequency	TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:65554649C>G	uc003tup.3	+	12	1264	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L	ASL_uc003tuo.3_Silent_p.L343L|ASL_uc003tur.3_Silent_p.L317L|ASL_uc003tuq.3_Silent_p.L323L	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	343					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	p.V342V(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGCCGTGCTCCAGGTGGCCA	0.637													G	65554649	C	G	65554649	2	3	115	1	0	0	0	0	0	0	0	1	1044	842	30	5		5	ASL	7	65554649	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	33463458	65554649	93584014	28	7649											
CNTNAP2	26047	broad.mit.edu	37	7	148112574	148112574	+	Missense_Mutation	SNP	C	C	T	rs138661307		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:148112574C>T	uc003weu.2	+	23	4378	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	CNTNAP2_uc003wev.2_Missense_Mutation_p.R65C	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1288					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1288S(2)|p.R1288C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTACATGTTCCGCCACAAGGG	0.567										HNSCC(39;0.1)			T	148112574	C	T	148112574	3	4	115	1	0	0	0	0	1	0	0	0	3647	652	23	2	3956	2	CNTNAP2	7	148112574	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	82557925	148112574	11026089	29	7650											
PXDNL	137902	broad.mit.edu	37	8	52321474	52321474	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:52321474C>A	uc003xqu.4	-	16	2811	c.2710G>T	c.(2710-2712)Gag>Tag	p.E904*	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	904					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			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)				GATTCCCGCTCCGAGCTCCCG	0.592													A	52321474	C	A	52321474	4	1	115	1	0	0	0	0	0	1	0	0	12848	864	30	5	1709	5	PXDNL	8	52321474	Nonsense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08		52321474	94042548	30	7651											
DCAF13	25879	broad.mit.edu	37	8	104452461	104452461	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:104452461C>T	uc003yln.3	+	8	1781	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	DCAF13_uc003ylm.1_Missense_Mutation_p.R235C	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	350					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		p.R502H(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATGAACATTCGCCTGTGGAA	0.328													T	104452461	C	T	104452461	3	4	115	1	0	0	0	0	1	0	0	0	4266	884	31	2	1538	2	DCAF13	8	104452461	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	52130987	104452461	41911561	31	7652											
TIGD5	84948	broad.mit.edu	37	8	144681263	144681263	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:144681263G>A	uc003yyx.2	+	0	1190	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	397					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACACCGGATGGCGCTGTGCGG	0.692													A	144681263	G	A	144681263	3	1	115	1	0	0	0	0	1	0	0	0	15896	1203	42	3	1192	3	TIGD5	8	144681263	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	40228802	144681263	1682759	32	7653											
FAM83H	286077	broad.mit.edu	37	8	144808805	144808805	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:144808805G>A	uc003yzk.3	-	4	2895	c.2826C>T	c.(2824-2826)tcC>tcT	p.S942S		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	942					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGACTCCCCGGAGATGGTAA	0.736													A	144808805	G	A	144808805	2	1	115	1	0	0	0	0	0	0	0	1	5640	1103	39	2		2	FAM83H	8	144808805	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	127542	144808805	1555217	33	7654											
FAM75A3	727830	broad.mit.edu	37	9	40702725	40702725	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:40702725G>A	uc010mmj.3	+	3	411	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	128	Pro-rich.					integral to membrane		p.E128*(3)		kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAGGTGGGCGAAAGAGCACC	0.602													A	40702725	G	A	40702725	3	1	115	1	0	0	0	0	1	0	0	0	5621	1059	37	2	396	2	FAM75A3	9	40702725	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		40702725	100510706	34	7655											
TRPM3	80036	broad.mit.edu	37	9	73399100	73399100	+	Missense_Mutation	SNP	C	C	T	rs141951214	byFrequency	TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:73399100C>T	uc004aid.3	-	6	1313	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	TRPM3_uc004ahu.3_Missense_Mutation_p.V187M|TRPM3_uc004ahv.3_Missense_Mutation_p.V187M|TRPM3_uc004ahw.3_Missense_Mutation_p.V229M|TRPM3_uc004ahx.3_Missense_Mutation_p.V204M|TRPM3_uc004ahy.3_Missense_Mutation_p.V229M|TRPM3_uc004ahz.3_Missense_Mutation_p.V204M|TRPM3_uc004aia.3_Missense_Mutation_p.V204M|TRPM3_uc004aib.3_Missense_Mutation_p.V204M|TRPM3_uc004aic.3_Missense_Mutation_p.V357M|TRPM3_uc010mor.3_Missense_Mutation_p.V357M|TRPM3_uc004aie.3_Missense_Mutation_p.V204M|TRPM3_uc004aif.3_Missense_Mutation_p.V229M|TRPM3_uc004aig.3_Missense_Mutation_p.V204M	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	382						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCACTGGCACGGGAGGGGTG	0.547													T	73399100	C	T	73399100	3	4	115	1	0	0	0	0	1	0	0	0	16584	536	19	1	4174	1	TRPM3	9	73399100	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	32696375	73399100	67814331	35	7656											
ROR2	4920	broad.mit.edu	37	9	94486082	94486082	+	Silent	SNP	C	C	T	rs141070315		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:94486082C>T	uc004arj.2	-	8	2893	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	898					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGGGGCGTTCTGTGTGTCAT	0.637													T	94486082	C	T	94486082	2	4	115	1	0	0	0	0	0	0	0	1	13527	912	32	3		3	ROR2	9	94486082	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	21086982	94486082	46727349	36	7657											
OR1L1	26737	broad.mit.edu	37	9	125424265	125424265	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:125424265A>G	uc022bmz.1	+	0	271	c.271A>G	c.(271-273)Acc>Gcc	p.T91A		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AGAGACAAAGACCATCTCTTA	0.433													G	125424265	A	G	125424265	3	3	115	1	0	0	0	0	1	0	0	0	10963	275	10	4	273	4	OR1L1	9	125424265	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08	30938183	125424265	15789166	37	7658											
EXD3	54932	broad.mit.edu	37	9	140201420	140201420	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:140201420C>T	uc004cmp.2	-	21	2809	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	EXD3_uc010ncf.1_Silent_p.P509P	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	871					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GACTGCTGGCCGGGCTGGGGG	0.652													T	140201420	C	T	140201420	2	4	115	1	0	0	0	0	0	0	0	1	5299	639	23	2		2	EXD3	9	140201420	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	14777155	140201420	1012011	38	7659											
MS4A3	932	broad.mit.edu	37	11	59828736	59828736	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:59828736C>A	uc001nom.3	+	1	231	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	MS4A3_uc001non.3_Missense_Mutation_p.Q35K|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	35				Q -> H (in Ref. 1; AAA62319).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TTCTGTCTACCAGCCCATAGA	0.473													A	59828736	C	A	59828736	3	1	115	1	0	0	0	0	1	0	0	0	9861	595	21	5	105	5	MS4A3	11	59828736	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08		59828736	75177780	39	7660											
SLC22A6	9356	broad.mit.edu	37	11	62749352	62749352	+	Silent	SNP	C	C	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:62749352C>A	uc001nwk.3	-	3	1092	c.759G>T	c.(757-759)ctG>ctT	p.L253L	SLC22A6_uc001nwl.3_Silent_p.L253L|SLC22A6_uc001nwj.3_Silent_p.L253L|SLC22A6_uc001nwm.3_Silent_p.L253L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	253					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCGCAGAGACCAGTAGCTGCA	0.617													A	62749352	C	A	62749352	2	1	115	1	0	0	0	0	0	0	0	1	14458	581	21	5		5	SLC22A6	11	62749352	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	2920616	62749352	72257164	40	7661											
MMP13	4322	broad.mit.edu	37	11	102825250	102825250	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:102825250G>A	uc001phl.3	-	2	477	c.448C>T	c.(448-450)Cct>Tct	p.P150S		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	150					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAATTCAGAGGAGTTACATCG	0.343													A	102825250	G	A	102825250	3	1	115	1	0	0	0	0	1	0	0	0	9652	1174	41	3	999	3	MMP13	11	102825250	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	40075898	102825250	32181266	41	7662											
GPRC5A	9052	broad.mit.edu	37	12	13061399	13061399	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr12:13061399C>T	uc001rba.3	+	1	866	c.216C>T	c.(214-216)ctC>ctT	p.L72L		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	72						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTCTCTTCCTCCTGGGTGTGT	0.557													T	13061399	C	T	13061399	2	4	115	1	0	0	0	0	0	0	0	1	6724	842	30	3		3	GPRC5A	12	13061399	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		13061399	120790496	42	7663											
ATF7IP	55729	broad.mit.edu	37	12	14599967	14599967	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr12:14599967G>T	uc001rbw.3	+	5	2133	c.1975G>T	c.(1975-1977)Gat>Tat	p.D659Y	ATF7IP_uc010shs.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbu.3_Missense_Mutation_p.D659Y|ATF7IP_uc001rbv.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbx.3_Missense_Mutation_p.D658Y|ATF7IP_uc010sht.1_Missense_Mutation_p.D659Y|ATF7IP_uc001rby.4_Missense_Mutation_p.D659Y|ATF7IP_uc001rca.3_Missense_Mutation_p.D659Y	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	659	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGCCAAAGAAGATCTTAAGAA	0.308													T	14599967	G	T	14599967	3	4	115	1	0	0	0	0	1	0	0	0	1087	942	33	5	1993	5	ATF7IP	12	14599967	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	1538568	14599967	119251928	43	7664											
SYNE2	23224	broad.mit.edu	37	14	64634098	64634098	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr14:64634098C>T	uc001xgl.3	+	90	16983	c.16753C>T	c.(16753-16755)Cgc>Tgc	p.R5585C	SYNE2_uc001xgm.3_Missense_Mutation_p.R5585C|SYNE2_uc010apy.3_Missense_Mutation_p.R1970C|SYNE2_uc001xgn.3_Missense_Mutation_p.R547C|SYNE2_uc021rui.1_Missense_Mutation_p.R505C|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5585					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			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)		GGCACTGGAGCGCTGCAGGTT	0.478													T	64634098	C	T	64634098	3	4	115	1	0	0	0	0	1	0	0	0	15443	768	27	1	17111	1	SYNE2	14	64634098	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08		64634098	42715442	44	7665											
WDR72	256764	broad.mit.edu	37	15	53889439	53889439	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr15:53889439C>T	uc002acj.2	-	17	3027	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378													T	53889439	C	T	53889439	2	4	115	1	0	0	0	0	0	0	0	1	17319	639	23	2		2	WDR72	15	53889439	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		53889439	48641953	45	7666											
C16orf53	79447	broad.mit.edu	37	16	29827999	29828009	+	Frame_Shift_Del	DEL	AGGAGGCCGAG	AGGAGGCCGAG	-			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr16:29827999_29828009delAGGAGGCCGAG	uc002dug.4	+	0	472_482	c.153_163delAGGAGGCCGAG	c.(151-165)gaaggaggccgagagfs	p.E51fs	BOLA2_uc010bzb.1_Intron	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	Homo sapiens chromosome 16 open reading frame 53 (C16orf53), mRNA.	51	Glu-rich.									kidney(1)|lung(1)|prostate(1)	3						ACGAGGGGGAAGGAGGCCGAGAGGAGACCGA	0.697											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	29828009	AGGAGGCCGAG	-	29827999	7	5	115	1	0	1	0	1	0	0	0	0	1818	69	3	0	155	0	C16orf53	16	29827999	Frame_Shift_Del	DEL	AGGAGGCCGAG	TCGA-12-0688-01A-02D-1492-08		29827999	60526754	46	7667											
FAM65A	79567	broad.mit.edu	37	16	67572596	67572596	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr16:67572596G>A	uc010vjp.2	+	2	372	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FAM65A_uc010cei.2_5'UTR|FAM65A_uc002eth.3_Silent_p.P42P|FAM65A_uc010cej.3_Silent_p.P46P|FAM65A_uc002eti.2_Intron|FAM65A_uc010vjq.2_Silent_p.P56P|FAM65A_uc002etj.1_Silent_p.P41P|FAM65A_uc002etk.3_Silent_p.P41P	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	46						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCTTCAGCCCGCCGGGGCCCC	0.682													A	67572596	G	A	67572596	2	1	115	1	0	0	0	0	0	0	0	1	5599	1074	38	1		1	FAM65A	16	67572596	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	37744597	67572596	22782157	47	7668											
LRRC37B	114659	broad.mit.edu	37	17	30348508	30348508	+	Silent	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr17:30348508T>C	uc002hgu.3	+	0	354	c.343T>C	c.(343-345)Ttg>Ctg	p.L115L	LRRC37B_uc010wbx.2_Silent_p.L33L|LRRC37B_uc010csu.3_Silent_p.L115L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	115						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGAGCCGTTCTTGGCTGCACA	0.547													C	30348508	T	C	30348508	2	2	115	1	0	0	0	0	0	0	0	1	8994	1606	56	4		4	LRRC37B	17	30348508	Silent	SNP	T	TCGA-12-0688-01A-02D-1492-08		30348508	50846702	48	7669											
G6PC3	92579	broad.mit.edu	37	17	42152338	42152338	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr17:42152338C>A	uc002iex.3	+	4	653	c.417_splice	c.e4-1	p.S139_splice	G6PC3_uc002iey.3_Splice_Site_p.S14_splice|G6PC3_uc002iez.3_Splice_Site_p.S14_splice	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN	Homo sapiens glucose 6 phosphatase, catalytic, 3 (G6PC3), transcript variant 1, mRNA.	139					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTTCTAGCCGCTGGGTAAG	0.542													A	42152338	C	A	42152338	3	1	115	1	0	0	0	0	1	0	0	0	6145	666	23	5	432	5	G6PC3	17	42152338	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	11803830	42152338	39042872	49	7670											
RALBP1	10928	broad.mit.edu	37	18	9516893	9516893	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:9516893A>G	uc002kob.3	+	2	518	c.295A>G	c.(295-297)Agt>Ggt	p.S99G	RALBP1_uc002koc.3_Missense_Mutation_p.S99G	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	99					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TGAGGCAGAAAGTCCTTCTAA	0.373													G	9516893	A	G	9516893	3	3	115	1	0	0	0	0	1	0	0	0	13012	72	3	4	301	4	RALBP1	18	9516893	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08		9516893	68560355	50	7671											
PTPN2	5771	broad.mit.edu	37	18	12794472	12794472	+	Frame_Shift_Del	DEL	T	T	-			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:12794472delT	uc002krp.3	-	8	1247	c.1053delA	c.(1051-1053)aaafs	p.K351fs	PTPN2_uc002krn.3_Frame_Shift_Del_p.K374fs|PTPN2_uc002krl.3_Frame_Shift_Del_p.K351fs|PTPN2_uc002krm.3_Intron	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	351					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTCGAATACGTTTCCGTAGAG	0.428													-	12794472	T	-	12794472	7	5	115	1	0	1	0	1	0	0	0	0	12785	1722	60	0	224	0	PTPN2	18	12794472	Frame_Shift_Del	DEL	T	TCGA-12-0688-01A-02D-1492-08	3277579	12794472	65282776	51	7672											
GATA6	2627	broad.mit.edu	37	18	19762971	19762971	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:19762971T>A	uc002ktt.1	+	5	1852	c.1587T>A	c.(1585-1587)aaT>aaA	p.N529K	GATA6_uc002ktu.1_Missense_Mutation_p.N529K	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	529					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCAGCAAAAATACTTCCCCCA	0.373													A	19762971	T	A	19762971	3	1	115	1	0	0	0	0	1	0	0	0	6258	1403	49	5	1605	5	GATA6	18	19762971	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	6968499	19762971	58314277	52	7673											
CDH2	1000	broad.mit.edu	37	18	25591942	25591942	+	Silent	SNP	A	A	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:25591942A>C	uc002kwg.2	-	3	873	c.414T>G	c.(412-414)gtT>gtG	p.V138V	CDH2_uc010xbn.1_Silent_p.V107V	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	138					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTATTTCTTCAACTTCTGCTG	0.388													C	25591942	A	C	25591942	2	2	115	1	0	0	0	0	0	0	0	1	3105	117	5	5		5	CDH2	18	25591942	Silent	SNP	A	TCGA-12-0688-01A-02D-1492-08	5828971	25591942	52485306	53	7674											
SBNO2	22904	broad.mit.edu	37	19	1113547	1113547	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:1113547T>C	uc002lrk.4	-	18	2472	c.2234A>G	c.(2233-2235)cAg>cGg	p.Q745R	SBNO2_uc002lrj.4_Missense_Mutation_p.Q688R|SBNO2_uc010dse.3_Missense_Mutation_p.Q728R	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	745					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CGCCACCCGCTGGGGGCCGCC	0.697													C	1113547	T	C	1113547	3	2	115	1	0	0	0	0	1	0	0	0	13863	1580	55	4	1922	4	SBNO2	19	1113547	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08		1113547	58015436	54	7675											
ZNF554	115196	broad.mit.edu	37	19	2833912	2833912	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:2833912A>T	uc002lwm.2	+	4	877	c.679A>T	c.(679-681)Aat>Tat	p.N227Y	ZNF554_uc002lwl.2_Missense_Mutation_p.N176Y	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		GGAAAATGGTAATCTGAGCCC	0.502													T	2833912	A	T	2833912	3	4	115	1	0	0	0	0	1	0	0	0	17982	362	13	5	697	5	ZNF554	19	2833912	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08	1720365	2833912	56295071	55	7676											
MCOLN1	57192	broad.mit.edu	37	19	7591685	7591685	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:7591685G>A	uc002mgo.3	+	3	585	c.444G>A	c.(442-444)gcG>gcA	p.A148A	MCOLN1_uc002mgp.3_Missense_Mutation_p.R35H	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	148					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCGGTATGCGTATGTCCGTG	0.657													A	7591685	G	A	7591685	2	1	115	1	0	0	0	0	0	0	0	1	9395	1132	40	1		1	MCOLN1	19	7591685	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	4757773	7591685	51537298	56	7677											
CLEC4M	10332	broad.mit.edu	37	19	7832494	7832494	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:7832494C>T	uc010dvt.3	+	5	1147	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D	CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Silent_p.D320D|CLEC4M_uc010xjw.2_Silent_p.D276D|CLEC4M_uc010dvs.3_Silent_p.D319D|CLEC4M_uc010xjx.2_Silent_p.D292D|CLEC4M_uc002mhz.3_Intron|CLEC4M_uc002mic.3_Intron|CLEC4M_uc002mia.3_Silent_p.D207D	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	343	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			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AATGGGTGGACGGCTCACCTC	0.562													T	7832494	C	T	7832494	2	4	115	1	0	0	0	0	0	0	0	1	3518	535	19	1		1	CLEC4M	19	7832494	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	240809	7832494	51296489	57	7678											
CYP4F12	66002	broad.mit.edu	37	19	15795890	15795890	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:15795890C>T	uc002nbl.3	+	8	1117	c.998C>T	c.(997-999)aCg>aTg	p.T333M		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											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)					CATGACACCACGGCCAGTGGC	0.627													T	15795890	C	T	15795890	3	4	115	1	0	0	0	0	1	0	0	0	4187	536	19	1	1028	1	CYP4F12	19	15795890	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	7963396	15795890	43333093	58	7679											
SBSN	374897	broad.mit.edu	37	19	36019170	36019170	+	Missense_Mutation	SNP	C	C	T	rs138249808		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:36019170C>T	uc002oad.2	-	0	84	c.14G>A	c.(13-15)cGt>cAt	p.R5H	SBSN_uc002oae.2_Missense_Mutation_p.R5H|SBSN_uc021usp.1_Missense_Mutation_p.R5H	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	5						extracellular region				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)			GCCGACCAGACGTGCAAGATG	0.587													T	36019170	C	T	36019170	3	4	115	1	0	0	0	0	1	0	0	0	13864	536	19	1	1774	1	SBSN	19	36019170	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	20223280	36019170	23109813	59	7680											
FCGBP	8857	broad.mit.edu	37	19	40380305	40380305	+	Silent	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:40380305G>A	uc002omp.4	-	22	11018	c.11010C>T	c.(11008-11010)ttC>ttT	p.F3670F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3670	VWFD 9.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCATGAAGTCGAAGCGGTGGC	0.672													A	40380305	G	A	40380305	2	1	115	1	0	0	0	0	0	0	0	1	5778	1049	37	2		2	FCGBP	19	40380305	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	4361135	40380305	18748678	60	7681											
PRX	57716	broad.mit.edu	37	19	40902798	40902798	+	Silent	SNP	C	C	T	rs140474860		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:40902798C>T	uc002onr.3	-	6	1730	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P	PRX_uc002onq.3_Silent_p.P348P|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	487	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.P487L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCGCACCTCCGGCACAGCCA	0.597													T	40902798	C	T	40902798	2	4	115	1	0	0	0	0	0	0	0	1	12642	639	23	2		2	PRX	19	40902798	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	522493	40902798	18226185	61	7682											
RPN2	6185	broad.mit.edu	37	20	35835810	35835810	+	Silent	SNP	T	T	C			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:35835810T>C	uc002xgp.3	+	6	1129	c.825T>C	c.(823-825)ccT>ccC	p.P275P	RPN2_uc010gfw.2_Silent_p.P118P|RPN2_uc002xgq.3_Silent_p.P243P|RPN2_uc021wdb.1_Silent_p.P57P	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	275					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.V274E(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)				TGGTTGTGCCTGAGGGCTCTG	0.537													C	35835810	T	C	35835810	2	2	115	1	0	0	0	0	0	0	0	1	13608	1567	55	4		4	RPN2	20	35835810	Silent	SNP	T	TCGA-12-0688-01A-02D-1492-08		35835810	27189710	62	7683											
SLC13A3	64849	broad.mit.edu	37	20	45194937	45194937	+	Silent	SNP	G	G	A	rs147641404		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:45194937G>A	uc002xsf.2	-	10	1465	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	SLC13A3_uc010ghn.2_Silent_p.I444I|SLC13A3_uc010zxx.2_Silent_p.I377I|SLC13A3_uc010zxw.2_Silent_p.I425I|SLC13A3_uc002xsg.2_Silent_p.I428I|SLC13A3_uc010gho.2_Silent_p.I393I|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.I62I|SLC13A3_uc010zxv.2_Silent_p.I60I	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	475						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGAAGAAGGCGATGACCACAG	0.617													A	45194937	G	A	45194937	2	1	115	1	0	0	0	0	0	0	0	1	14393	1048	37	2		2	SLC13A3	20	45194937	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	9359127	45194937	17830583	63	7684											
KCNG1	3755	broad.mit.edu	37	20	49626233	49626233	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:49626233C>G	uc002xwa.4	-	1	938	c.643G>C	c.(643-645)Gac>Cac	p.D215H	KCNG1_uc002xwb.3_Missense_Mutation_p.D215H	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	215						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						TCCACCATGTCGCGCAGTCGC	0.726													G	49626233	C	G	49626233	3	3	115	1	0	0	0	0	1	0	0	0	8027	884	31	5	906	5	KCNG1	20	49626233	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	4431296	49626233	13399287	64	7685											
COL6A2	1292	broad.mit.edu	37	21	47532419	47532419	+	Silent	SNP	C	C	T			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr21:47532419C>T	uc002zia.1	+	2	724	c.642C>T	c.(640-642)aaC>aaT	p.N214N	COL6A2_uc002zhz.1_Silent_p.N214N|COL6A2_uc002zhy.1_Silent_p.N214N	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	214	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCTACCGCAACGACTACGCCA	0.667													T	47532419	C	T	47532419	2	4	115	1	0	0	0	0	0	0	0	1	3700	535	19	1		1	COL6A2	21	47532419	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		47532419	597476	65	7686											
FGF13	2258	broad.mit.edu	37	X	137785220	137785220	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chrX:137785220G>A	uc004fam.3	-	2	990	c.328C>T	c.(328-330)Cga>Tga	p.R110*	FGF13_uc004fan.3_Nonsense_Mutation_p.R57*|FGF13_uc011mwi.2_Nonsense_Mutation_p.R91*|FGF13_uc004faq.3_Nonsense_Mutation_p.R120*|FGF13_uc004far.3_Nonsense_Mutation_p.R91*|FGF13_uc011mwj.2_Nonsense_Mutation_p.R120*|FGF13_uc011mwk.2_Nonsense_Mutation_p.R64*	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	110					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.R110L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCCACCACTCGCAGACCCACA	0.408													A	137785220	G	A	137785220	4	1	115	1	0	0	0	0	0	1	0	0	5842	1095	38	1	421	1	FGF13	23	137785220	Nonsense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		137785220	17485340	66	7687											
AURKAIP1	54998	broad.mit.edu	37	1	1309242	1309242	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:1309242G>A	uc001afb.1	-	2	649	c.539C>T	c.(538-540)gCg>gTg	p.A180V	AURKAIP1_uc001afc.2_Missense_Mutation_p.A180V|AURKAIP1_uc009vkb.1_Missense_Mutation_p.A180V|AURKAIP1_uc001afd.2_Missense_Mutation_p.A180V	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA.	180					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTTAGCCCCGCCTTCAGCCA	0.597													A	1309242	G	A	1309242	3	1	116	1	0	0	0	0	1	0	0	0	1222	1087	38	1	64	1	AURKAIP1	1	1309242	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		1309242	247941379	1	7688											
DIRAS3	9077	broad.mit.edu	37	1	68512685	68512685	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:68512685C>G	uc021ooq.1	-	0	296	c.296G>C	c.(295-297)cGc>cCc	p.R99P	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Missense_Mutation_p.R99P	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	99					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R99H(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCAGAGCGCGGTTGCCGTC	0.587													G	68512685	C	G	68512685	3	3	116	1	0	0	0	0	1	0	0	0	4532	768	27	5	397	5	DIRAS3	1	68512685	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	67203443	68512685	180737936	2	7689											
GON4L	54856	broad.mit.edu	37	1	155792117	155792117	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:155792117T>G	uc001flz.2	-	3	945	c.848A>C	c.(847-849)cAg>cCg	p.Q283P	GON4L_uc001fly.1_Missense_Mutation_p.Q283P|GON4L_uc009wrh.1_Missense_Mutation_p.Q283P|GON4L_uc001fma.1_Missense_Mutation_p.Q283P|GON4L_uc001fmc.3_Missense_Mutation_p.Q283P|GON4L_uc001fmd.4_Missense_Mutation_p.Q283P|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.Q111P|GON4L_uc001fmf.3_5'Flank	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	283					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAGATTGTGCTGCTTGGCACC	0.458													G	155792117	T	G	155792117	3	3	116	1	0	0	0	0	1	0	0	0	6572	1580	55	5	6107	5	GON4L	1	155792117	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08	87279432	155792117	93458504	3	7690											
OLFML2B	25903	broad.mit.edu	37	1	161993080	161993080	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:161993080G>A	uc010pkq.2	-	0	565	c.141C>T	c.(139-141)aaC>aaT	p.N47N	OLFML2B_uc001gbu.3_Silent_p.N47N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	47										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGTCCGCCTCGTTTTGCAGAG	0.602													A	161993080	G	A	161993080	2	1	116	1	0	0	0	0	0	0	0	1	10858	1136	40	1		1	OLFML2B	1	161993080	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	6200963	161993080	87257541	4	7691											
SMG7	9887	broad.mit.edu	37	1	183514093	183514093	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:183514093C>T	uc001gqg.3	+	15	2266	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	SMG7_uc010pob.2_Silent_p.P655P|SMG7_uc021pga.1_Silent_p.P584P|SMG7_uc001gqf.3_Silent_p.P626P|SMG7_uc001gqh.3_Silent_p.P626P|SMG7_uc010poc.2_Silent_p.P630P	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	672	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ATGTTATCCCCCCGCCTGTGG	0.443													T	183514093	C	T	183514093	2	4	116	1	0	0	0	0	0	0	0	1	14798	610	22	3		3	SMG7	1	183514093	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	21521013	183514093	65736528	5	7692											
FAM129A	116496	broad.mit.edu	37	1	184787863	184787863	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:184787863C>T	uc001gra.3	-	8	1276	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	FAM129A_uc001grb.1_Missense_Mutation_p.G124E|FAM129A_uc009wyh.1_Missense_Mutation_p.G189E|FAM129A_uc009wyi.1_Missense_Mutation_p.G159E	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	361					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.S360*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCACTGAATCCCGAGCTCAC	0.537													T	184787863	C	T	184787863	3	4	116	1	0	0	0	0	1	0	0	0	5436	855	30	3	1728	3	FAM129A	1	184787863	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	1273770	184787863	64462758	6	7693											
CFH	10877	broad.mit.edu	37	1	196884097	196884097	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:196884097A>C	uc001gtp.3	+	8	1506	c.1369A>C	c.(1369-1371)Aag>Cag	p.K457Q	CFH_uc021pgt.1_Missense_Mutation_p.K80Q|CFH_uc009wyy.3_Missense_Mutation_p.K456Q|CFH_uc001gto.3_Missense_Mutation_p.K210Q	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	810	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCTTCAGAAAAGTGTGGGCC	0.358													C	196884097	A	C	196884097	3	2	116	1	0	0	0	0	1	0	0	0	3283	15	1	5		5	CFH	1	196884097	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	12096234	196884097	52366524	7	7694											
HIST3H3	8290	broad.mit.edu	37	1	228612870	228612870	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:228612870G>A	uc001hsx.1	-	0	157	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_003493	NP_003484	Q16695	H31T_HUMAN	Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.	53					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TGGTAGCGGCGGATCTCGCGA	0.652													A	228612870	G	A	228612870	3	1	116	1	0	0	0	0	1	0	0	0	7184	1116	39	2	257	2	HIST3H3	1	228612870	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	31728773	228612870	20637751	8	7695											
DPP10	57628	broad.mit.edu	37	2	116593731	116593731	+	Splice_Site	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:116593731A>G	uc002tle.3	+	22	1984	c.1963_splice	c.e22-2	p.G655_splice	DPP10_uc002tla.2_Splice_Site_p.G651_splice|DPP10_uc002tlb.2_Splice_Site_p.G601_splice|DPP10_uc002tlc.2_Splice_Site_p.G647_splice|DPP10_uc002tlf.2_Splice_Site_p.G644_splice	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	651					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCCCCCCCAGGGTTATGGT	0.333													G	116593731	A	G	116593731	5	3	116	1	0	0	0	0	0	0	1	0	4727	202	7	4	2206	4	DPP10	2	116593731	Splice_Site	SNP	A	TCGA-12-0692-01A-01W-0348-08		116593731	126605642	9	7696											
RBM45	129831	broad.mit.edu	37	2	178990756	178990756	+	Silent	SNP	T	T	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:178990756T>C	uc002ulv.3	+	8	1370	c.1278T>C	c.(1276-1278)aaT>aaC	p.N426N		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	428	RRM 3.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CAGGAAAAAATGTGGGGTATG	0.383													C	178990756	T	C	178990756	2	2	116	1	0	0	0	0	0	0	0	1	13139	1461	51	4		4	RBM45	2	178990756	Silent	SNP	T	TCGA-12-0692-01A-01W-0348-08	62397025	178990756	64208617	10	7697											
ZDBF2	57683	broad.mit.edu	37	2	207169709	207169709	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:207169709C>T	uc002vbp.2	+	4	707	c.457C>T	c.(457-459)Cat>Tat	p.H153Y		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	153							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGAGTTTGTTCATAAAATTGG	0.448													T	207169709	C	T	207169709	3	4	116	1	0	0	0	0	1	0	0	0	17596	826	29	3	467	3	ZDBF2	2	207169709	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	28178953	207169709	36029664	11	7698											
BARD1	580	broad.mit.edu	37	2	215609857	215609857	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:215609857delC	uc002veu.2	-	8	1972	c.1837delG	c.(1837-1839)gcafs	p.A613fs	BARD1_uc021vwe.1_Frame_Shift_Del_p.A594fs|BARD1_uc021vwf.1_Frame_Shift_Del_p.A516fs|BARD1_uc021vwg.1_Frame_Shift_Del_p.A162fs|BARD1_uc021vwh.1_Frame_Shift_Del_p.A143fs|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Frame_Shift_Del_p.A179fs|BARD1_uc010zjm.1_Frame_Shift_Del_p.A469fs	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	613	BRCT 1.				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			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)		CTTTGAACTGCATCACCAGGA	0.338									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				-	215609857	C	-	215609857	7	5	116	1	0	1	0	1	0	0	0	0	1312	710	25	0	508	0	BARD1	2	215609857	Frame_Shift_Del	DEL	C	TCGA-12-0692-01A-01W-0348-08	8440148	215609857	27589516	12	7699											
XIRP1	165904	broad.mit.edu	37	3	39225931	39225931	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:39225931G>T	uc003cjk.2	-	1	5235	c.5006C>A	c.(5005-5007)tCc>tAc	p.S1669Y	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.S352Y|XIRP1_uc021wvz.1_Missense_Mutation_p.S1669Y	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1669							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAATGTTGGGGAGGAGGGAGA	0.537													T	39225931	G	T	39225931	3	4	116	1	0	0	0	0	1	0	0	0	17426	1174	41	5	529	5	XIRP1	3	39225931	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		39225931	158796499	13	7700											
KALRN	8997	broad.mit.edu	37	3	124053259	124053259	+	Missense_Mutation	SNP	C	C	T	rs147539685		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:124053259C>T	uc003ehg.3	+	8	1685	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	KALRN_uc010hrv.1_Missense_Mutation_p.R520W|KALRN_uc003ehf.1_Missense_Mutation_p.R520W|KALRN_uc011bjy.1_Missense_Mutation_p.R520W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	520					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			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						TCACCAGCGACGGCTGGAGAG	0.622													T	124053259	C	T	124053259	3	4	116	1	0	0	0	0	1	0	0	0	7975	527	19	1	1592	1	KALRN	3	124053259	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	84827328	124053259	73969171	14	7701											
MSL2	55167	broad.mit.edu	37	3	135870091	135870091	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:135870091A>T	uc003eqx.1	-	1	2365	c.1632T>A	c.(1630-1632)agT>agA	p.S544R	MSL2_uc011bmb.1_Missense_Mutation_p.S470R|MSL2_uc021xel.1_Missense_Mutation_p.S470R	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	544					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.S544I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CATTTATTACACTGGTGCTGG	0.468													T	135870091	A	T	135870091	3	4	116	1	0	0	0	0	1	0	0	0	9878	156	6	5	105	5	MSL2	3	135870091	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	11816832	135870091	62152339	15	7702											
AFM	173	broad.mit.edu	37	4	74361147	74361147	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:74361147G>A	uc003hhb.3	+	8	1220	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	397	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTACCGTTACGCGGTAGGTTC	0.378													A	74361147	G	A	74361147	3	1	116	1	0	0	0	0	1	0	0	0	361	1087	38	1	1223	1	AFM	4	74361147	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		74361147	116793129	16	7703											
GRID2	2895	broad.mit.edu	37	4	94316790	94316790	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:94316790T>G	uc011cdt.2	+	8	1536	c.1278T>G	c.(1276-1278)aaT>aaG	p.N426K	GRID2_uc011cdu.2_Missense_Mutation_p.N331K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	426					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			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)	CAGGTCTGAATGGGTCACTGA	0.433													G	94316790	T	G	94316790	3	3	116	1	0	0	0	0	1	0	0	0	6772	1461	51	5	1312	5	GRID2	4	94316790	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08	19955643	94316790	96837486	17	7704											
ADAM29	11086	broad.mit.edu	37	4	175898213	175898213	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:175898213G>A	uc003iuc.3	+	4	2207	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	ADAM29_uc003iud.3_Missense_Mutation_p.A513T|ADAM29_uc010irr.3_Missense_Mutation_p.A513T|ADAM29_uc011cki.2_Missense_Mutation_p.A513T|ADAM29_uc021xuo.1_Missense_Mutation_p.A513T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	513	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.A513T(4)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGTGCAGGCGCAAATACTGC	0.418													A	175898213	G	A	175898213	3	1	116	1	0	0	0	0	1	0	0	0	247	1087	38	1	1539	1	ADAM29	4	175898213	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	81581423	175898213	15256063	18	7705											
TRIML1	339976	broad.mit.edu	37	4	189060967	189060967	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:189060967G>A	uc003izm.1	+	0	370	c.255G>A	c.(253-255)gtG>gtA	p.V85V		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	85					multicellular organismal development		ligase activity|zinc ion binding			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)		GGTCCCAGGTGCTGCAGAGCG	0.652													A	189060967	G	A	189060967	2	1	116	1	0	0	0	0	0	0	0	1	16547	1306	46	3		3	TRIML1	4	189060967	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	13162754	189060967	2093309	19	7706											
PCDHGC5	8641	broad.mit.edu	37	5	140769313	140769313	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr5:140769313C>T	uc003lkc.2	+	0	1862	c.1862C>T	c.(1861-1863)aCg>aTg	p.T621M	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	625	Cadherin 6.				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)			GGGCTGCGCACGGGCGAAGTG	0.692													T	140769313	C	T	140769313	3	4	116	1	0	0	0	0	1	0	0	0	11571	536	19	1		1	PCDHGC5	5	140769313	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		140769313	40145947	20	7707											
ATP10B	23120	broad.mit.edu	37	5	160061402	160061402	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr5:160061402C>T	uc003lym.1	-	11	2187	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	ATP10B_uc003lyp.2_Missense_Mutation_p.R447H|ATP10B_uc011deg.1_Missense_Mutation_p.R491H|ATP10B_uc003lyn.3_Missense_Mutation_p.R5H|ATP10B_uc003lyo.2_Missense_Mutation_p.R419H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	447					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R447C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAACGTCGGAACAC	0.507													T	160061402	C	T	160061402	3	4	116	1	0	0	0	0	1	0	0	0	1117	536	19	1	3105	1	ATP10B	5	160061402	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	19292089	160061402	20853858	21	7708											
DEFB114	245928	broad.mit.edu	37	6	49928111	49928111	+	Missense_Mutation	SNP	C	C	T	rs146020038		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:49928111C>T	uc011dwp.2	-	1	104	c.104G>A	c.(103-105)cGt>cAt	p.R35H		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	35					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TCTTTTACAACGACCGTAACG	0.353													T	49928111	C	T	49928111	3	4	116	1	0	0	0	0	1	0	0	0	4403	536	19	1	108	1	DEFB114	6	49928111	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		49928111	121186956	22	7709											
CD109	135228	broad.mit.edu	37	6	74475666	74475666	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:74475666G>A	uc003php.3	+	10	1552	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	CD109_uc003phq.3_Missense_Mutation_p.R374H|CD109_uc010kba.3_Missense_Mutation_p.R297H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	374						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			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						AAGGTAACTCGTGCTGATGGC	0.358													A	74475666	G	A	74475666	3	1	116	1	0	0	0	0	1	0	0	0	2963	1145	40	1	1163	1	CD109	6	74475666	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	24547555	74475666	96639401	23	7710											
TTLL2	83887	broad.mit.edu	37	6	167754816	167754816	+	Silent	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:167754816G>C	uc003qvs.1	+	2	1516	c.1428G>C	c.(1426-1428)gtG>gtC	p.V476V		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	476					protein modification process		ATP binding|tubulin-tyrosine ligase activity			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)		AGAAAGCTGTGAGTGTGCGTC	0.512													C	167754816	G	C	167754816	2	2	116	1	0	0	0	0	0	0	0	1	16724	1277	45	5		5	TTLL2	6	167754816	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	93279150	167754816	3360251	24	7711											
PRKAR1B	5575	broad.mit.edu	37	7	618975	618975	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:618975G>A	uc003siu.2	-	8	942	c.809C>T	c.(808-810)gCg>gTg	p.A270V	PRKAR1B_uc021zyi.1_Missense_Mutation_p.A270V|PRKAR1B_uc003siv.3_Missense_Mutation_p.A270V|PRKAR1B_uc021zyj.1_Missense_Mutation_p.A270V|PRKAR1B_uc021zyk.1_Missense_Mutation_p.A270V|PRKAR1B_uc003siw.2_Missense_Mutation_p.A270V|PRKAR1B_uc003six.1_Non-coding_Transcript	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	270				A -> R (in Ref. 1; AAC37564).	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGGCTCCAGCGCATCCGCCAC	0.612													A	618975	G	A	618975	3	1	116	1	0	0	0	0	1	0	0	0	12504	1087	38	1	348	1	PRKAR1B	7	618975	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		618975	158519688	25	7712											
NUPL2	11097	broad.mit.edu	37	7	23239787	23239787	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:23239787G>A	uc003svu.3	+	7	954	c.695_splice	c.e7-1	p.G232_splice	NUPL2_uc003svv.3_Splice_Site|NUPL2_uc011jyw.2_Splice_Site|NUPL2_uc011jyx.2_Splice_Site_p.G4_splice	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	232					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ttgttTGTAGGCTTTCCAGTC	0.353													A	23239787	G	A	23239787	3	1	116	1	0	0	0	0	1	0	0	0	10775	1217	42	3	721	3	NUPL2	7	23239787	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	22620812	23239787	135898876	26	7713											
STK31	56164	broad.mit.edu	37	7	23825130	23825130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:23825130C>T	uc003sws.4	+	17	2249	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*	STK31_uc003swt.4_Nonsense_Mutation_p.R705*|STK31_uc011jze.2_Nonsense_Mutation_p.R728*|STK31_uc010kuq.3_Nonsense_Mutation_p.R705*|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	728	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.R728*(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGCTTGGAACGAGATCTTCT	0.403													T	23825130	C	T	23825130	4	4	116	1	0	0	0	0	0	1	0	0	15295	528	19	1	2252	1	STK31	7	23825130	Nonsense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	585343	23825130	135313533	27	7714											
WNT2	7472	broad.mit.edu	37	7	116960726	116960726	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:116960726C>T	uc003viz.3	-	1	505	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	69					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.G68D(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCGGCCACGCCCTGGCTA	0.602													T	116960726	C	T	116960726	3	4	116	1	0	0	0	0	1	0	0	0	17383	536	19	1	893	1	WNT2	7	116960726	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	93135596	116960726	42177937	28	7715											
MGAM	8972	broad.mit.edu	37	7	141759386	141759386	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:141759386G>A	uc003vwy.3	+	31	3988	c.3934G>A	c.(3934-3936)Gtc>Atc	p.V1312I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1312	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGATGCGGGTCATCCTCAT	0.507													A	141759386	G	A	141759386	3	1	116	1	0	0	0	0	1	0	0	0	9541	1261	44	3	4056	3	MGAM	7	141759386	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	24798660	141759386	17379277	29	7716											
STC1	6781	broad.mit.edu	37	8	23709003	23709003	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:23709003G>A	uc003xdw.1	-	2	587	c.303C>T	c.(301-303)aaC>aaT	p.N101N		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	101					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.A100V(1)|p.A100T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGTGACCCCGTTGGCGATGC	0.517													A	23709003	G	A	23709003	2	1	116	1	0	0	0	0	0	0	0	1	15274	1136	40	1		1	STC1	8	23709003	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08		23709003	122655019	30	7717											
UNC5D	137970	broad.mit.edu	37	8	35407016	35407016	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:35407016G>C	uc003xjr.2	+	1	638	c.310G>C	c.(310-312)Gac>Cac	p.D104H	UNC5D_uc003xjs.2_Missense_Mutation_p.D99H	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	104	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGAGACTCTGGACGAGAGCTC	0.522													C	35407016	G	C	35407016	3	2	116	1	0	0	0	0	1	0	0	0	16992	1174	41	5	316	5	UNC5D	8	35407016	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	11698013	35407016	110957006	31	7718											
PTDSS1	9791	broad.mit.edu	37	8	97285591	97285591	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:97285591A>G	uc003yht.1	+	1	346	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	PTDSS1_uc003yhu.1_5'UTR	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	82					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTTCTTTCTTATCATCAGTGT	0.373													G	97285591	A	G	97285591	3	3	116	1	0	0	0	0	1	0	0	0	12736	449	16	4	250	4	PTDSS1	8	97285591	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	61878575	97285591	49078431	32	7719											
TEK	7010	broad.mit.edu	37	9	27217701	27217701	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:27217701C>T	uc011lno.2	+	17	3320	c.2878C>T	c.(2878-2880)Cgc>Tgc	p.R960C	TEK_uc003zqi.4_Missense_Mutation_p.R1003C|TEK_uc011lnp.2_Missense_Mutation_p.R855C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1003	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GCTCCCAGTGCGCTGGATGGC	0.483													T	27217701	C	T	27217701	3	4	116	1	0	0	0	0	1	0	0	0	15748	768	27	1	3081	1	TEK	9	27217701	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		27217701	113995730	33	7720											
ZNF618	114991	broad.mit.edu	37	9	116811355	116811355	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:116811355C>T	uc004bid.3	+	14	1872	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	ZNF618_uc004bic.3_Silent_p.S498S|ZNF618_uc011lxi.2_Silent_p.S558S|ZNF618_uc011lxj.2_Silent_p.S559S|ZNF618_uc010mvb.3_Silent_p.S181S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCGCGACAGCGGTGACCTTG	0.592													T	116811355	C	T	116811355	2	4	116	1	0	0	0	0	0	0	0	1	18039	767	27	1		1	ZNF618	9	116811355	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	89593654	116811355	24402076	34	7721											
RABGAP1	23637	broad.mit.edu	37	9	125748579	125748579	+	Silent	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:125748579G>T	uc011lzh.2	+	3	605	c.471G>T	c.(469-471)tcG>tcT	p.S157S	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Silent_p.S157S	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	157	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GCTGTGCCTCGGTAAATGCTC	0.453													T	125748579	G	T	125748579	2	4	116	1	0	0	0	0	0	0	0	1	12964	1103	39	5		5	RABGAP1	9	125748579	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	8937224	125748579	15464852	35	7722											
CAMSAP1	157922	broad.mit.edu	37	9	138714648	138714648	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:138714648G>A	uc004cgr.4	-	10	1859	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	CAMSAP1_uc004cgq.4_Missense_Mutation_p.P510L|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P342L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	620						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GATGCTCCTCGGTCTCCCTTC	0.542													A	138714648	G	A	138714648	3	1	116	1	0	0	0	0	1	0	0	0	2611	1116	39	2	2977	2	CAMSAP1	9	138714648	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	12966069	138714648	2498783	36	7723											
CCAR1	55749	broad.mit.edu	37	10	70496806	70496806	+	Splice_Site	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr10:70496806G>C	uc001joo.3	+	3	365	c.246_splice	c.e3+1	p.Q82_splice	CCAR1_uc001jol.1_Splice_Site|CCAR1_uc001jom.1_Splice_Site|CCAR1_uc009xpx.1_Splice_Site_p.Q82_splice|CCAR1_uc001jon.1_Splice_Site_p.A72_splice|CCAR1_uc010qiz.1_Splice_Site_p.Q82_splice|CCAR1_uc010qja.1_Splice_Site_p.Q82_splice|CCAR1_uc010qjb.2_Splice_Site	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	82					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATTACAACAGGTAAATCTTTA	0.393													C	70496806	G	C	70496806	5	2	116	1	0	0	0	0	0	0	1	0	2730	1275	44	5	253	5	CCAR1	10	70496806	Splice_Site	SNP	G	TCGA-12-0692-01A-01W-0348-08		70496806	65037941	37	7724											
CRTAC1	55118	broad.mit.edu	37	10	99664517	99664517	+	Missense_Mutation	SNP	C	C	T	rs149424033		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr10:99664517C>T	uc001kou.2	-	6	1261	c.905G>A	c.(904-906)cGt>cAt	p.R302H	CRTAC1_uc001kov.3_Missense_Mutation_p.R302H|CRTAC1_uc001kot.2_Missense_Mutation_p.R92H	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	302						proteinaceous extracellular matrix	calcium ion binding	p.R302H(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTTGCCATCACGGTTGAAGTC	0.617													T	99664517	C	T	99664517	3	4	116	1	0	0	0	0	1	0	0	0	3896	536	19	1	1116	1	CRTAC1	10	99664517	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	29167711	99664517	35870230	38	7725											
RHOG	391	broad.mit.edu	37	11	3849147	3849147	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:3849147C>T	uc021qcn.1	-	0	222	c.222G>A	c.(220-222)caG>caA	p.Q74Q	RHOG_uc001lyu.2_Silent_p.Q74Q	NM_001665	NP_001656	P84095	RHOG_HUMAN	Homo sapiens ras homolog gene family, member G (rho G) (RHOG), mRNA.	74					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		AAACGTTGGTCTGAGGGTAGG	0.602													T	3849147	C	T	3849147	2	4	116	1	0	0	0	0	0	0	0	1	13339	912	32	3		3	RHOG	11	3849147	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08		3849147	131157369	39	7726											
OR51F1	256892	broad.mit.edu	37	11	4790709	4790709	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:4790709C>A	uc010qyl.2	-	0	439	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	147						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCAGAAGACCCATTTGAATG	0.433													A	4790709	C	A	4790709	3	1	116	1	0	0	0	0	1	0	0	0	11096	623	22	5	502	5	OR51F1	11	4790709	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	941562	4790709	130215807	40	7727											
PCF11	51585	broad.mit.edu	37	11	82880169	82880169	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:82880169A>T	uc001ozx.4	+	7	3137	c.2792A>T	c.(2791-2793)gAt>gTt	p.D931V	PCF11_uc010rsu.1_Missense_Mutation_p.D1062V	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	931	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATTAGGTTTGATGGACCTCAT	0.537													T	82880169	A	T	82880169	3	4	116	1	0	0	0	0	1	0	0	0	11573	333	12	5	2822	5	PCF11	11	82880169	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	78089460	82880169	52126347	41	7728											
CNTN5	53942	broad.mit.edu	37	11	100211381	100211382	+	Splice_Site	INS	-	-	GT			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:100211381_100211382insGT	uc001pga.3	+	22	3421	c.2917_splice	c.e22+1	p.P973_splice	CNTN5_uc021qpb.1_Splice_Site_p.P973_splice|CNTN5_uc021qpc.1_Splice_Site_p.P899_splice|CNTN5_uc010ruk.2_Splice_Site_p.P244_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	973					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.?(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAAGAAATCCCGTAAGTGACCT	0.441													GT	100211382	-	GT	100211381	8	5	116	1	0	1	1	0	0	0	1	0	3644	666	23	0	2995	0	CNTN5	11	100211381	Splice_Site	INS	-	TCGA-12-0692-01A-01W-0348-08	17331212	100211381	34795135	42	7729											
ANO2	57101	broad.mit.edu	37	12	5908716	5908716	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:5908716G>A	uc001qnm.2	-	9	1072	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	339						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCCATAGCGCGCCCATTCT	0.423													A	5908716	G	A	5908716	3	1	116	1	0	0	0	0	1	0	0	0	697	1087	38	1	2064	1	ANO2	12	5908716	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		5908716	127943179	43	7730											
ABCC9	10060	broad.mit.edu	37	12	21965043	21965043	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:21965043G>T	uc001rfh.3	-	33	4171	c.4151C>A	c.(4150-4152)aCa>aAa	p.T1384K	ABCC9_uc001rfi.1_Missense_Mutation_p.T1384K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1384	ABC transporter 2.				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			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)	AGAACGTAGTGTGTGCAGTGG	0.358													T	21965043	G	T	21965043	3	4	116	1	0	0	0	0	1	0	0	0	59	1377	48	5	660	5	ABCC9	12	21965043	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	16056327	21965043	111886852	44	7731											
PIWIL1	9271	broad.mit.edu	37	12	130847606	130847606	+	Silent	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:130847606A>G	uc001uik.3	+	17	2383	c.2112A>G	c.(2110-2112)gtA>gtG	p.V704V	PIWIL1_uc001uij.2_Silent_p.V704V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	704	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.G703G(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCGATGGCGTAGGAGACGGCC	0.478													G	130847606	A	G	130847606	2	3	116	1	0	0	0	0	0	0	0	1	11957	407	15	4		4	PIWIL1	12	130847606	Silent	SNP	A	TCGA-12-0692-01A-01W-0348-08	108882563	130847606	3004289	45	7732											
FLT3	2322	broad.mit.edu	37	13	28597589	28597589	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:28597589T>A	uc001urw.3	-	18	2398	c.2316A>T	c.(2314-2316)aaA>aaT	p.K772N	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.K772N	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	772	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCCAGCCTTTTTTGGTTTT	0.348			"Mis, O"		"AML, ALL"								A	28597589	T	A	28597589	3	1	116	1	0	0	0	0	1	0	0	0	5942	1838	64	5	689	5	FLT3	13	28597589	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08		28597589	86572289	46	7733											
FAM70B	348013	broad.mit.edu	37	13	114507939	114507939	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:114507939G>A	uc001vuh.3	+	7	778	c.751G>A	c.(751-753)Gca>Aca	p.A251T		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	251						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CCTGGCCTACGCAGGCTTCCG	0.677													A	114507939	G	A	114507939	3	1	116	1	0	0	0	0	1	0	0	0	5606	1087	38	1	781	1	FAM70B	13	114507939	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	85910350	114507939	661939	47	7734											
EDDM3B	64184	broad.mit.edu	37	14	21238424	21238424	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:21238424T>G	uc021ron.1	+	0	115	c.115T>G	c.(115-117)Tta>Gta	p.L39V	EDDM3B_uc001vyd.3_Missense_Mutation_p.L39V	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	39					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						ACAGCACTACTTAAGTCCAAG	0.413													G	21238424	T	G	21238424	3	3	116	1	0	0	0	0	1	0	0	0	4910	1606	56	5	117	5	EDDM3B	14	21238424	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08		21238424	86111116	48	7735											
CTSG	1511	broad.mit.edu	37	14	25042969	25042969	+	Silent	SNP	G	G	A	rs147260851	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:25042969G>A	uc001wpq.3	-	4	679	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	214	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CATAGGAGACGATGCCGTGGG	0.557													A	25042969	G	A	25042969	2	1	116	1	0	0	0	0	0	0	0	1	4035	1048	37	2		2	CTSG	14	25042969	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	3804545	25042969	82306571	49	7736											
CDKL1	8814	broad.mit.edu	37	14	50802891	50802891	+	Silent	SNP	A	A	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:50802891A>G	uc010anu.2	-	19	2802	c.2802T>C	c.(2800-2802)tcT>tcC	p.S934S	CDKL1_uc001wxz.3_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	0						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TCACAGCCCCAGAAGCAAGCA	0.567													G	50802891	A	G	50802891	2	3	116	1	0	0	0	0	0	0	0	1	3153	203	7	4		4	CDKL1	14	50802891	Silent	SNP	A	TCGA-12-0692-01A-01W-0348-08	25759922	50802891	56546649	50	7737											
FAM181A	90050	broad.mit.edu	37	14	94394937	94394937	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:94394937C>T	uc001ybz.2	+	2	817	c.492C>T	c.(490-492)aaC>aaT	p.N164N	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.N102N|FAM181A_uc021saz.1_Silent_p.N102N|FAM181A_uc010aus.2_Silent_p.N102N|FAM181A_uc001yca.2_Silent_p.N102N	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	164				N -> S (in Ref. 2; BAC04151).						cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCTGAGGAACCCCTACAGGG	0.637													T	94394937	C	T	94394937	2	4	116	1	0	0	0	0	0	0	0	1	5508	506	18	3		3	FAM181A	14	94394937	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	43592046	94394937	12954603	51	7738											
SLC12A6	9990	broad.mit.edu	37	15	34528395	34528395	+	Silent	SNP	T	T	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr15:34528395T>C	uc001zhw.3	-	22	3212	c.3048A>G	c.(3046-3048)caA>caG	p.Q1016Q	SLC12A6_uc001zhv.3_Silent_p.Q965Q|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.Q1001Q|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.Q957Q|SLC12A6_uc001zib.3_Silent_p.Q1007Q|SLC12A6_uc001zic.3_Silent_p.Q1016Q|SLC12A6_uc010bau.3_Silent_p.Q1016Q|SLC12A6_uc001zid.3_Silent_p.Q957Q|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Silent_p.Q828Q	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	1016					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTTCACCAATTGTGCCTGAG	0.413													C	34528395	T	C	34528395	2	2	116	1	0	0	0	0	0	0	0	1	14387	1490	52	4		4	SLC12A6	15	34528395	Silent	SNP	T	TCGA-12-0692-01A-01W-0348-08		34528395	68002997	52	7739											
LMAN1L	79748	broad.mit.edu	37	15	75116023	75116023	+	Silent	SNP	G	G	A	rs147808783	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr15:75116023G>A	uc002ayt.1	+	12	1325	c.1323_splice	c.e12+1	p.A441_splice	LMAN1L_uc010bke.1_Splice_Site_p.A429_splice|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	441						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGGCCCGGCGGTGAGGGGAA	0.622													A	75116023	G	A	75116023	2	1	116	1	0	0	0	0	0	0	0	1	8837	1130	39	2		2	LMAN1L	15	75116023	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	40587628	75116023	27415369	53	7740											
DNAH3	55567	broad.mit.edu	37	16	20974846	20974846	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:20974846A>T	uc010vbe.2	-	52	10360	c.10360T>A	c.(10360-10362)Tgg>Agg	p.W3454R	DNAH3_uc010vbd.2_Missense_Mutation_p.W889R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3454					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGGGCCAGGCCGAGTCA	0.532													T	20974846	A	T	20974846	3	4	116	1	0	0	0	0	1	0	0	0	4603	188	7	5	2029	5	DNAH3	16	20974846	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08		20974846	69379907	54	7741											
SRCAP	10847	broad.mit.edu	37	16	30748842	30748842	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:30748842G>C	uc002dze.1	+	33	7866	c.7481G>C	c.(7480-7482)tGt>tCt	p.C2494S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.C2289S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2494	Pro-rich.				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.P2493S(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)			attcctccttgttcttctcct	0.552													C	30748842	G	C	30748842	3	2	116	1	0	0	0	0	1	0	0	0	15134	1377	48	5	7607	5	SRCAP	16	30748842	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	9773996	30748842	59605911	55	7742	10	2									
SRCAP	10847	broad.mit.edu	37	16	30748845	30748845	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:30748845C>G	uc002dze.1	+	33	7869	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2290C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2495	Pro-rich.				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			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)			cctccttgttcttctcctgcc	0.547													G	30748845	C	G	30748845	3	3	116	1	0	0	0	0	1	0	0	0	15134	913	32	5	7610	5	SRCAP	16	30748845	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	3	30748845	59605908	56	7743	10	2									
ITGAD	3681	broad.mit.edu	37	16	31429674	31429674	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:31429674G>T	uc010cap.1	+	21	2721	c.2672G>T	c.(2671-2673)aGg>aTg	p.R891M	ITGAD_uc002ebv.1_Missense_Mutation_p.R890M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	890					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			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						CTGGGAGACAGGATGCTTATG	0.572													T	31429674	G	T	31429674	3	4	116	1	0	0	0	0	1	0	0	0	7884	1000	35	5	2755	5	ITGAD	16	31429674	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	680829	31429674	58925079	57	7744											
PLA2G15	23659	broad.mit.edu	37	16	68288909	68288909	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:68288909G>A	uc002evr.3	+	2	455	c.372G>A	c.(370-372)ctG>ctA	p.L124L	PLA2G15_uc010vld.2_Silent_p.L124L|PLA2G15_uc010vle.2_Nonsense_Mutation_p.W72*|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_5'UTR	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	124					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCTTCTCACTGGAGTTCCTGG	0.572													A	68288909	G	A	68288909	2	1	116	1	0	0	0	0	0	0	0	1	11992	1335	47	3		3	PLA2G15	16	68288909	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	36859235	68288909	22065844	58	7745											
ITGAE	3682	broad.mit.edu	37	17	3651273	3651273	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:3651273C>T	uc002fwo.4	-	16	2197	c.2098G>A	c.(2098-2100)Gtc>Atc	p.V700I		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	700					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			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)		ACATTCACGACGCCGTTGAAG	0.542													T	3651273	C	T	3651273	3	4	116	1	0	0	0	0	1	0	0	0	7885	536	19	1	1501	1	ITGAE	17	3651273	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		3651273	77543937	59	7746											
LGALS9B	284194	broad.mit.edu	37	17	20363749	20363749	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:20363749G>C	uc002gxa.1	-	1	112	c.47C>G	c.(46-48)cCc>cGc	p.P16R	LGALS9B_uc002gwz.1_Missense_Mutation_p.P16R|LGALS9B_uc010vzh.1_Intron	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	16							sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CCCAGAAAAGGGGACGGCCTG	0.602													C	20363749	G	C	20363749	3	2	116	1	0	0	0	0	1	0	0	0	8749	1232	43	5	1060	5	LGALS9B	17	20363749	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	16712476	20363749	60831461	60	7747											
IGF2BP1	10642	broad.mit.edu	37	17	47115627	47115627	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:47115627C>T	uc002iom.3	+	5	833	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	167					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGAATGGGCGCCGAGGGGG	0.637													T	47115627	C	T	47115627	3	4	116	1	0	0	0	0	1	0	0	0	7573	768	27	1	521	1	IGF2BP1	17	47115627	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	26751878	47115627	34079583	61	7748											
TNFSF14	8740	broad.mit.edu	37	19	6669978	6669978	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:6669978C>A	uc002mfk.2	-	1	485	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	TNFSF14_uc002mfj.2_Missense_Mutation_p.V35L	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	35					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACCCGGGCCACACTGCACGAC	0.632													A	6669978	C	A	6669978	3	1	116	1	0	0	0	0	1	0	0	0	16304	478	17	5	635	5	TNFSF14	19	6669978	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		6669978	52459005	62	7749											
ZNF560	147741	broad.mit.edu	37	19	9579010	9579010	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:9579010C>T	uc002mlp.1	-	10	823	c.613_splice	c.e10-1	p.A205_splice	ZNF560_uc010dwr.1_Splice_Site_p.A99_splice	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGGTTTCTTGCCTGTTAACAC	0.338													T	9579010	C	T	9579010	3	4	116	1	0	0	0	0	1	0	0	0	17988	753	26	3	1763	3	ZNF560	19	9579010	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	2909032	9579010	49549973	63	7750											
OR1I1	126370	broad.mit.edu	37	19	15198267	15198267	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:15198267C>T	uc010xoe.2	+	0	391	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCACCCACAGCGTTACTTGGT	0.567													T	15198267	C	T	15198267	3	4	116	1	0	0	0	0	1	0	0	0	10958	768	27	1	393	1	OR1I1	19	15198267	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	5619257	15198267	43930716	64	7751											
NLRP4	147945	broad.mit.edu	37	19	56388509	56388509	+	Silent	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:56388509G>A	uc002qmd.4	+	7	3095	c.2673G>A	c.(2671-2673)acG>acA	p.T891T	NLRP4_uc002qmf.3_Silent_p.T816T|NLRP4_uc010etf.3_Silent_p.T666T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	891							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGACGCATACGGATTGCCGCT	0.478													A	56388509	G	A	56388509	2	1	116	1	0	0	0	0	0	0	0	1	10479	1103	39	2		2	NLRP4	19	56388509	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	41190242	56388509	2740474	65	7752											
STK35	140901	broad.mit.edu	37	20	2097899	2097899	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:2097899C>T	uc002wfw.4	+	2	1480	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	STK35_uc010zpu.2_Intron	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	Homo sapiens serine/threonine kinase 35 (STK35), mRNA.	494	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCCCCAAAAACGCAGGACTTC	0.512													T	2097899	C	T	2097899	3	4	116	1	0	0	0	0	1	0	0	0	15300	536	19	1	1490	1	STK35	20	2097899	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		2097899	60927621	66	7753											
TRMT6	51605	broad.mit.edu	37	20	5925484	5925485	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:5925484_5925485delTA	uc002wmh.1	-	2	454_455	c.332_333delTA	c.(331-333)atafs	p.I111fs	TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_Non-coding_Transcript	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	111					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TCAAAGCTTTTATGTCATCTTG	0.342													-	5925485	TA	-	5925484	7	5	116	1	0	1	0	1	0	0	0	0	16565	1744	61	0	1196	0	TRMT6	20	5925484	Frame_Shift_Del	DEL	TA	TCGA-12-0692-01A-01W-0348-08	3827585	5925484	57100036	67	7754											
CHD6	84181	broad.mit.edu	37	20	40043955	40043955	+	Silent	SNP	T	T	C			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:40043955T>C	uc002xka.1	-	33	6988	c.6810A>G	c.(6808-6810)ggA>ggG	p.G2270G	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2270					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGACAATCTGTCCAGTCACAG	0.537													C	40043955	T	C	40043955	2	2	116	1	0	0	0	0	0	0	0	1	3329	1654	58	4		4	CHD6	20	40043955	Silent	SNP	T	TCGA-12-0692-01A-01W-0348-08	34118471	40043955	22981565	68	7755											
SYS1	90196	broad.mit.edu	37	20	43995683	43995683	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:43995683C>T	uc021weh.1	+	4	642	c.399C>T	c.(397-399)atC>atT	p.I133I	SYS1_uc002xnv.3_Silent_p.I133I|SYS1_uc002xnw.2_Intron|SYS1_uc010gha.3_Non-coding_Transcript|DBNDD2_uc002xnx.3_Intron	NM_001197129	NP_001184058	Q8N2H4	SYS1_HUMAN	Homo sapiens SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) (SYS1), transcript variant 3, mRNA.	133					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCTGTCATCGGGGAGTACC	0.577													T	43995683	C	T	43995683	2	4	116	1	0	0	0	0	0	0	0	1	15461	874	31	2		2	SYS1	20	43995683	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	3951728	43995683	19029837	69	7756											
TSHZ2	128553	broad.mit.edu	37	20	51870964	51870964	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:51870964C>T	uc002xwo.3	+	1	1854	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	TSHZ2_uc021wex.1_Missense_Mutation_p.R320C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	323					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R323L(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)			GGCTAAGAAACGCGTTTTTGA	0.453													T	51870964	C	T	51870964	3	4	116	1	0	0	0	0	1	0	0	0	16621	536	19	1	973	1	TSHZ2	20	51870964	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	7875281	51870964	11154556	70	7757											
CSF2RB	1439	broad.mit.edu	37	22	37326752	37326752	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:37326752G>A	uc003aqa.4	+	7	1109	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	CSF2RB_uc003aqc.4_Missense_Mutation_p.G304S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	298					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGGGGCTCGGCAGCCTCCA	0.647													A	37326752	G	A	37326752	3	1	116	1	0	0	0	0	1	0	0	0	3935	1116	39	2	918	2	CSF2RB	22	37326752	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		37326752	13977814	71	7758											
ENTHD1	150350	broad.mit.edu	37	22	40283548	40283548	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:40283548G>A	uc003ayg.3	-	1	456	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	69	ENTH.							p.R69C(2)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TACACGTGGCGCCAGTTCTTC	0.403													A	40283548	G	A	40283548	3	1	116	1	0	0	0	0	1	0	0	0	5137	1087	38	1	1642	1	ENTHD1	22	40283548	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	2956796	40283548	11021018	72	7759											
CYP2D6	1565	broad.mit.edu	37	22	42524294	42524294	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:42524294C>T	uc003bce.3	-	4	815	c.725G>A	c.(724-726)cGc>cAc	p.R242H	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_5'UTR|CYP2D6_uc003bcf.3_Missense_Mutation_p.R191H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	242							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.D241N(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTGGAAGCGTAGGACCTT	0.607													T	42524294	C	T	42524294	3	4	116	1	0	0	0	0	1	0	0	0	4169	768	27	1	788	1	CYP2D6	22	42524294	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	2240746	42524294	8780272	73	7760											
TBL1X	6907	broad.mit.edu	37	X	9656243	9656243	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:9656243G>A	uc004csr.3	+	6	1031	c.544G>A	c.(544-546)Gtt>Att	p.V182I	TBL1X_uc004csq.4_Missense_Mutation_p.V131I|TBL1X_uc010ndr.3_Missense_Mutation_p.V131I|TBL1X_uc010ndq.3_Missense_Mutation_p.V182I|TBL1X_uc004css.3_Missense_Mutation_p.V133I	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	182					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CTCAGCCGGCGTTTCCCACCA	0.632													A	9656243	G	A	9656243	3	1	116	1	0	0	0	0	1	0	0	0	15636	1145	40	1	558	1	TBL1X	23	9656243	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		9656243	145614317	74	7761											
POLA1	5422	broad.mit.edu	37	X	24759540	24759540	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:24759540C>T	uc004dbl.3	+	20	2262	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	749					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGAAAGATGCCAAGTTCATTT	0.348													T	24759540	C	T	24759540	2	4	116	1	0	0	0	0	0	0	0	1	12187	581	21	3		3	POLA1	23	24759540	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	15103297	24759540	130511020	75	7762											
SATL1	340562	broad.mit.edu	37	X	84362599	84362599	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:84362599G>A	uc004een.3	-	0	1376	c.1376C>T	c.(1375-1377)cCa>cTa	p.P459L		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	272	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCTAGTGCCTGGTTGTCTCAT	0.592													A	84362599	G	A	84362599	3	1	116	1	0	0	0	0	1	0	0	0	13855	1348	47	3	542	3	SATL1	23	84362599	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	59603059	84362599	70907961	76	7763											
PCDH11X	27328	broad.mit.edu	37	X	91132676	91132676	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:91132676C>G	uc004efk.2	+	1	2282	c.1437C>G	c.(1435-1437)aaC>aaG	p.N479K	PCDH11X_uc004efl.2_Missense_Mutation_p.N479K|PCDH11X_uc010nmv.2_Missense_Mutation_p.N479K|PCDH11X_uc004efm.2_Missense_Mutation_p.N479K|PCDH11X_uc004efn.2_Missense_Mutation_p.N479K|PCDH11X_uc004efo.2_Missense_Mutation_p.N479K|PCDH11X_uc004efh.2_Missense_Mutation_p.N479K|PCDH11X_uc004efj.1_Missense_Mutation_p.N479K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	479	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						CTGAGAATAACTCTCCTGGCA	0.433													G	91132676	C	G	91132676	3	3	116	1	0	0	0	0	1	0	0	0	11508	564	20	5	1443	5	PCDH11X	23	91132676	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	6770077	91132676	64137884	77	7764			1	25		2	2	29	N	C_A	7.597413e-05
PCDH11X	27328	broad.mit.edu	37	X	91132704	91132704	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:91132704A>T	uc004efk.2	+	1	2310	c.1465A>T	c.(1465-1467)Agt>Tgt	p.S489C	PCDH11X_uc004efl.2_Missense_Mutation_p.S489C|PCDH11X_uc010nmv.2_Missense_Mutation_p.S489C|PCDH11X_uc004efm.2_Missense_Mutation_p.S489C|PCDH11X_uc004efn.2_Missense_Mutation_p.S489C|PCDH11X_uc004efo.2_Missense_Mutation_p.S489C|PCDH11X_uc004efh.2_Missense_Mutation_p.S489C|PCDH11X_uc004efj.1_Missense_Mutation_p.S489C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	489	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						GACGAAAGTAAGTGCAATGGA	0.453													T	91132704	A	T	91132704	3	4	116	1	0	0	0	0	1	0	0	0	11508	72	3	5	1471	5	PCDH11X	23	91132704	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	28	91132704	64137856	78	7765			1	25		2	2	29	N	C_A	7.597413e-05
LONRF3	79836	broad.mit.edu	37	X	118108897	118108897	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:118108897C>T	uc004eqw.3	+	0	185	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	LONRF3_uc004eqx.3_Missense_Mutation_p.R52W|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_5'Flank	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	52					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCTACCGACGCGGGAGCCAGA	0.677													T	118108897	C	T	118108897	3	4	116	1	0	0	0	0	1	0	0	0	8896	759	27	1	156	1	LONRF3	23	118108897	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	26976193	118108897	37161663	79	7766											
ZBTB33	10009	broad.mit.edu	37	X	119388318	119388318	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:119388318G>A	uc022cdm.1	+	0	1048	c.1048G>A	c.(1048-1050)Gtc>Atc	p.V350I	ZBTB33_uc010nqm.1_Missense_Mutation_p.V350I|ZBTB33_uc004esn.1_Missense_Mutation_p.V350I	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	350					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	p.V350I(2)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGACTCGGCCGTCAGTAATAC	0.413													A	119388318	G	A	119388318	3	1	116	1	0	0	0	0	1	0	0	0	17533	1145	40	1	1050	1	ZBTB33	23	119388318	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	1279421	119388318	35882242	80	7767											
STAG2	10735	broad.mit.edu	37	X	123176479	123176479	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:123176479delC	uc004eua.3	+	6	850	c.446delC	c.(445-447)actfs	p.T149fs	STAG2_uc004etz.4_Frame_Shift_Del_p.T149fs|STAG2_uc004eub.3_Frame_Shift_Del_p.T149fs|STAG2_uc004euc.3_Frame_Shift_Del_p.T149fs|STAG2_uc004eud.3_Frame_Shift_Del_p.T149fs|STAG2_uc004eue.3_Frame_Shift_Del_p.T149fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	149					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CGAAAAATGACTGAAGAATTC	0.299													-	123176479	C	-	123176479	7	5	116	1	0	1	0	1	0	0	0	0	15242	565	20	0	464	0	STAG2	23	123176479	Frame_Shift_Del	DEL	C	TCGA-12-0692-01A-01W-0348-08	3788161	123176479	32094081	81	7768											
RBMX	27316	broad.mit.edu	37	X	135961585	135961586	+	Frame_Shift_Ins	INS	-	-	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:135961585_135961586insT	uc004fae.2	-	1	211_212	c.1_2insA	c.(1-3)atgfs	p.M1fs	RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	1						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCAACCATGTTTTTTTTT	0.391													T	135961586	-	T	135961585	7	5	116	1	0	1	1	0	0	0	0	0	13151	217	8	0	1260	0	RBMX	23	135961585	Frame_Shift_Ins	INS	-	TCGA-12-0692-01A-01W-0348-08	12785106	135961585	19308975	82	7769											
PLXNB3	5365	broad.mit.edu	37	X	153033075	153033075	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153033075C>T	uc010nuk.2	+	3	1133	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Missense_Mutation_p.R265C|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	265	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			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)					CTACGTGGCCCGCGTCTGCCT	0.721													T	153033075	C	T	153033075	3	4	116	1	0	0	0	0	1	0	0	0	12125	652	23	2	917	2	PLXNB3	23	153033075	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	17071490	153033075	2237485	83	7770											
FLNA	2316	broad.mit.edu	37	X	153588484	153588484	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153588484C>T	uc004fkk.2	-	21	3928	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1227R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1227					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637													T	153588484	C	T	153588484	3	4	116	1	0	0	0	0	1	0	0	0	5933	652	23	2	4372	2	FLNA	23	153588484	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	555409	153588484	1682076	84	7771											
PLXNA3	55558	broad.mit.edu	37	X	153694763	153694763	+	Silent	SNP	C	C	T			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153694763C>T	uc004flm.3	+	15	3017	c.2844C>T	c.(2842-2844)tcC>tcT	p.S948S		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	948	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCGGCGTCCGGGGGCACAC	0.672													T	153694763	C	T	153694763	2	4	116	1	0	0	0	0	0	0	0	1	12121	639	23	2		2	PLXNA3	23	153694763	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	106279	153694763	1575797	85	7772											
TNFRSF8	943	broad.mit.edu	37	1	12170201	12170201	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:12170201T>A	uc001atq.3	+	5	838	c.616T>A	c.(616-618)Tct>Act	p.S206T	TNFRSF8_uc010obc.2_Missense_Mutation_p.S95T	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	206					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGCTGCTTCTAAACTGAC	0.632													A	12170201	T	A	12170201	3	1	117	1	0	0	0	0	1	0	0	0	16296	1783	62	5	638	5	TNFRSF8	1	12170201	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08		12170201	237080420	1	7773											
TAS1R2	80834	broad.mit.edu	37	1	19181287	19181287	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:19181287C>T	uc001bba.1	-	2	678	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	226					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			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)	CCGGGCCACGCGCTCGCCAAG	0.642													T	19181287	C	T	19181287	3	4	117	1	0	0	0	0	1	0	0	0	15560	768	27	1	1858	1	TAS1R2	1	19181287	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	7011086	19181287	230069334	2	7774											
CNKSR1	10256	broad.mit.edu	37	1	26515154	26515154	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:26515154G>A	uc001bln.4	+	18	1735	c.1677G>A	c.(1675-1677)caG>caA	p.Q559Q	CNKSR1_uc001blm.4_Silent_p.Q552Q|CNKSR1_uc009vsd.3_Silent_p.Q294Q|CNKSR1_uc009vse.3_Silent_p.Q294Q|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	559					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCACACAGCGCAGCCCAC	0.647													A	26515154	G	A	26515154	2	1	117	1	0	0	0	0	0	0	0	1	3606	962	34	3		3	CNKSR1	1	26515154	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	7333867	26515154	222735467	3	7775											
ZSWIM5	57643	broad.mit.edu	37	1	45553632	45553632	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:45553632G>A	uc001cnd.2	-	1	1101	c.873C>T	c.(871-873)caC>caT	p.H291H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	291							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTTCAGTGTGGTGTGCCGTGA	0.393													A	45553632	G	A	45553632	2	1	117	1	0	0	0	0	0	0	0	1	18241	1252	44	3		3	ZSWIM5	1	45553632	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	19038478	45553632	203696989	4	7776											
AK5	26289	broad.mit.edu	37	1	78001682	78001682	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:78001682C>T	uc001dhn.3	+	12	1916	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	AK5_uc001dho.3_Missense_Mutation_p.P501S	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	527					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGCGTCCATCCCCGTGATCGC	0.527													T	78001682	C	T	78001682	3	4	117	1	0	0	0	0	1	0	0	0	443	623	22	3	1629	3	AK5	1	78001682	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	32448050	78001682	171248939	5	7777											
MCOLN3	55283	broad.mit.edu	37	1	85498465	85498465	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:85498465C>T	uc001dkp.3	-	5	793	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	MCOLN3_uc001dkq.3_Missense_Mutation_p.V160M|MCOLN3_uc001dkr.3_Missense_Mutation_p.V216M|MCOLN3_uc001dks.4_Missense_Mutation_p.V61M	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	216						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGAAGCTCCACTGTTAGGAGT	0.438													T	85498465	C	T	85498465	3	4	117	1	0	0	0	0	1	0	0	0	9397	565	20	3	1047	3	MCOLN3	1	85498465	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	7496783	85498465	163752156	6	7778											
INSRR	3645	broad.mit.edu	37	1	156811514	156811514	+	Missense_Mutation	SNP	C	C	T	rs139192917		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:156811514C>T	uc010pht.2	-	19	3769	c.3470G>A	c.(3469-3471)cGc>cAc	p.R1157H	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1157	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.R1157R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCATCCAGCGCACGGGCAG	0.627													T	156811514	C	T	156811514	3	4	117	1	0	0	0	0	1	0	0	0	7774	768	27	1	434	1	INSRR	1	156811514	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	71313049	156811514	92439107	7	7779											
CD1B	910	broad.mit.edu	37	1	158299678	158299678	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:158299678C>T	uc001frx.3	-	2	679	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	CD1B_uc001frw.3_Missense_Mutation_p.V191I	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	191	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCATTGAGGACGCCCAAGAGA	0.438													T	158299678	C	T	158299678	3	4	117	1	0	0	0	0	1	0	0	0	2975	536	19	1	446	1	CD1B	1	158299678	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	1488164	158299678	90950943	8	7780											
OR10R2	343406	broad.mit.edu	37	1	158449688	158449688	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:158449688C>G	uc010pik.2	+	0	21	c.21C>G	c.(19-21)ttC>ttG	p.F7L	AK057554_uc001fso.1_Intron	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTCTTATATTCACATACCTGA	0.433													G	158449688	C	G	158449688	3	3	117	1	0	0	0	0	1	0	0	0	10917	825	29	5	23	5	OR10R2	1	158449688	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	150010	158449688	90800933	9	7781											
LY9	4063	broad.mit.edu	37	1	160786529	160786529	+	Silent	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:160786529C>G	uc001fwu.3	+	4	1268	c.1218C>G	c.(1216-1218)tcC>tcG	p.S406S	LY9_uc001fwv.3_Silent_p.S406S|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Silent_p.S58S	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	406	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGTTGTGTCCCAAGGGGAAT	0.557													G	160786529	C	G	160786529	2	3	117	1	0	0	0	0	0	0	0	1	9101	610	22	5		5	LY9	1	160786529	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	2336841	160786529	88464092	10	7782											
CR2	1380	broad.mit.edu	37	1	207648560	207648560	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:207648560A>C	uc001hfw.3	+	13	2658	c.2539_splice	c.e13+1	p.A847_splice	CR2_uc001hfv.3_Splice_Site_p.A906_splice|CR2_uc009xch.3_Splice_Site_p.E847_splice	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	847					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTATCAAAAAAGGTAAGATAC	0.398													C	207648560	A	C	207648560	3	2	117	1	0	0	0	0	1	0	0	0	3842	86	3	5	2769	5	CR2	1	207648560	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	46862031	207648560	41602061	11	7783											
DCTN1	1639	broad.mit.edu	37	2	74592698	74592698	+	Silent	SNP	G	G	A	rs140969689	by1000genomes	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:74592698G>A	uc002skx.3	-	24	3291	c.2973C>T	c.(2971-2973)atC>atT	p.I991I	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Silent_p.I857I|DCTN1_uc002sku.3_Silent_p.I857I|DCTN1_uc002skw.2_Silent_p.I984I|DCTN1_uc010ffd.3_Silent_p.I971I|DCTN1_uc002sky.3_Silent_p.I954I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	991					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GGACTTTCTCGATGCGCTCAT	0.577													A	74592698	G	A	74592698	2	1	117	1	0	0	0	0	0	0	0	1	4306	1048	37	2		2	DCTN1	2	74592698	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		74592698	168606675	12	7784											
PSD4	23550	broad.mit.edu	37	2	113940791	113940791	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:113940791C>T	uc002tjc.3	+	1	941	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.A252V|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	253					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCTTCCTGGCGAGTCCTTGC	0.602													T	113940791	C	T	113940791	3	4	117	1	0	0	0	0	1	0	0	0	12649	768	27	1	760	1	PSD4	2	113940791	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	39348093	113940791	129258582	13	7785											
SCN9A	6335	broad.mit.edu	37	2	167056293	167056293	+	Missense_Mutation	SNP	C	C	T	rs142201175		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:167056293C>T	uc010fpl.3	-	26	5164	c.4823G>A	c.(4822-4824)cGa>cAa	p.R1608Q	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1619						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1608Q(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACGTAGGATTCGGCCAATCCT	0.483													T	167056293	C	T	167056293	3	4	117	1	0	0	0	0	1	0	0	0	13925	884	31	2	1114	2	SCN9A	2	167056293	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	53115502	167056293	76143080	14	7786											
FRZB	2487	broad.mit.edu	37	2	183703198	183703198	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:183703198G>A	uc002upa.2	-	3	954	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	246	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTAAGTGGAGGGCAGAGGCAG	0.438													A	183703198	G	A	183703198	3	1	117	1	0	0	0	0	1	0	0	0	6065	1232	43	3	253	3	FRZB	2	183703198	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	16646905	183703198	59496175	15	7787											
COL5A2	1290	broad.mit.edu	37	2	189927922	189927923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:189927922_189927923insC	uc002uqk.3	-	26	2119_2120	c.1844_1845insG	c.(1843-1845)ggcfs	p.G615fs	COL5A2_uc010frx.3_Frame_Shift_Ins_p.G191fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	615					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			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)			GGCCTGGAAGGCCCATGCTCCC	0.52													C	189927923	-	C	189927922	7	5	117	1	0	1	1	0	0	0	0	0	3697	1190	42	0	2766	0	COL5A2	2	189927922	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	6224724	189927922	53271451	16	7788											
IRS1	3667	broad.mit.edu	37	2	227659846	227659846	+	Silent	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:227659846T>G	uc021vxn.1	-	0	3609	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_uc002voh.4_Silent_p.P1203P	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1203	Pro-rich.				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			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)		GGGGTGGGGGTGGGGGAGGCT	0.582													G	227659846	T	G	227659846	2	3	117	1	0	0	0	0	0	0	0	1	7840	1683	59	5		5	IRS1	2	227659846	Silent	SNP	T	TCGA-12-0821-01A-01W-0424-08	37731924	227659846	15539527	17	7789											
ECEL1	9427	broad.mit.edu	37	2	233346218	233346218	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:233346218G>A	uc002vsv.2	-	13	2192	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	ECEL1_uc010fya.1_Missense_Mutation_p.R661W|ECEL1_uc010fyb.1_Missense_Mutation_p.R370W	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	663					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCTCACCCGCTGGTTGTAG	0.622													A	233346218	G	A	233346218	3	1	117	1	0	0	0	0	1	0	0	0	4891	1086	38	1	360	1	ECEL1	2	233346218	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	5686372	233346218	9853155	18	7790											
OXSR1	9943	broad.mit.edu	37	3	38278405	38278405	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:38278405T>C	uc003chy.3	+	10	1369	c.1027T>C	c.(1027-1029)Ttt>Ctt	p.F343L	OXSR1_uc010hhb.3_Missense_Mutation_p.F277L	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	343					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGATGATGAATTTGATGAAGA	0.423													C	38278405	T	C	38278405	3	2	117	1	0	0	0	0	1	0	0	0	11336	1493	52	4	1069	4	OXSR1	3	38278405	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08		38278405	159744025	19	7791											
PRSS50	29122	broad.mit.edu	37	3	46759087	46759087	+	Silent	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:46759087A>C	uc003cqe.1	-	1	629	c.147T>G	c.(145-147)acT>acG	p.T49T	PRSS50_uc021wxe.1_Silent_p.T49T|PRSS50_uc003cqf.2_Intron	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	49					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CGGGATCAGCAGTGGACAGCG	0.706													C	46759087	A	C	46759087	2	2	117	1	0	0	0	0	0	0	0	1	12631	175	7	5		5	PRSS50	3	46759087	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	8480682	46759087	151263343	20	7792											
CNTN3	5067	broad.mit.edu	37	3	74420493	74420493	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:74420493C>T	uc003dpm.1	-	4	592	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	171	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R171Q(2)		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)		GACAAATCTCCGACTATCTTC	0.403													T	74420493	C	T	74420493	3	4	117	1	0	0	0	0	1	0	0	0	3642	652	23	2	2646	2	CNTN3	3	74420493	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	27661406	74420493	123601937	21	7793											
OR5H6	79295	broad.mit.edu	37	3	97983841	97983841	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:97983841T>C	uc003dsi.1	+	0	713	c.713T>C	c.(712-714)cTc>cCc	p.L238P		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAATTATCCTCTTTACAATC	0.353													C	97983841	T	C	97983841	3	2	117	1	0	0	0	0	1	0	0	0	11163	1551	54	4	715	4	OR5H6	3	97983841	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	23563348	97983841	100038589	22	7794											
CCDC54	84692	broad.mit.edu	37	3	107096949	107096949	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:107096949A>C	uc003dwi.1	+	0	762	c.515A>C	c.(514-516)aAa>aCa	p.K172T		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	172										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTGCTTTACAAACTCATACAA	0.433													C	107096949	A	C	107096949	3	2	117	1	0	0	0	0	1	0	0	0	2824	14	1	5	517	5	CCDC54	3	107096949	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	9113108	107096949	90925481	23	7795											
ATR	545	broad.mit.edu	37	3	142234329	142234329	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:142234329A>G	uc003eux.4	-	24	4533	c.4411T>C	c.(4411-4413)Tgg>Cgg	p.W1471R		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1471					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACTCCAGACCAATCGGTTGAC	0.318								Other conserved DNA damage response genes					G	142234329	A	G	142234329	3	3	117	1	0	0	0	0	1	0	0	0	1204	130	5	4	3615	4	ATR	3	142234329	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	35137380	142234329	55788101	24	7796											
LEKR1	389170	broad.mit.edu	37	3	156710933	156710933	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:156710933G>A	uc021xgh.1	+	8	1090	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	42										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCATTACAGGAAGAGCTGAC	0.348													A	156710933	G	A	156710933	3	1	117	1	0	0	0	0	1	0	0	0	8717	1175	41	3	1006	3	LEKR1	3	156710933	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	14476604	156710933	41311497	25	7797											
PIK3CA	5290	broad.mit.edu	37	3	178916614	178916614	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:178916614A>G	uc003fjk.3	+	1	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1V(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCAGAACAATGCCTCCACG	0.378		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916614	A	G	178916614	3	3	117	1	0	0	0	0	1	0	0	0	11913	101	4	4	3	4	PIK3CA	3	178916614	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	22205681	178916614	19105816	26	7798											
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:195595228_195595229insG	uc003fvu.1	-	11	2438_2439	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728													G	195595229	-	G	195595228	7	5	117	1	0	1	1	0	0	0	0	0	16315	755	27	0	1236	0	TNK2	3	195595228	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	16678614	195595228	2427202	27	7799											
FGFRL1	53834	broad.mit.edu	37	4	1018839	1018839	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:1018839A>C	uc003gce.3	+	6	1380	c.1219A>C	c.(1219-1221)Acc>Ccc	p.T407P	FGFRL1_uc003gcf.3_Missense_Mutation_p.T407P|FGFRL1_uc003gcg.3_Missense_Mutation_p.T407P|FGFRL1_uc010ibo.3_Missense_Mutation_p.T407P	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	407					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAAGCCGTGCACCCCCGCGCC	0.731													C	1018839	A	C	1018839	3	2	117	1	0	0	0	0	1	0	0	0	5869	159	6	5	1241	5	FGFRL1	4	1018839	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08		1018839	190135437	28	7800											
DRD5	1816	broad.mit.edu	37	4	9784657	9784657	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:9784657G>T	uc003gmb.4	+	0	1400	c.1004G>T	c.(1003-1005)tGc>tTc	p.C335F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	335					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGCTTCCCCTGCGTCAGTGAG	0.587													T	9784657	G	T	9784657	3	4	117	1	0	0	0	0	1	0	0	0	4760	1319	46	5	1006	5	DRD5	4	9784657	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	8765818	9784657	181369619	29	7801											
NKX3-2	579	broad.mit.edu	37	4	13543971	13543971	+	Silent	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:13543971C>G	uc003gmx.2	-	1	724	c.648G>C	c.(646-648)gcG>gcC	p.A216A		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	216					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGAAGACCTGCGCGTGGGAGA	0.741													G	13543971	C	G	13543971	2	3	117	1	0	0	0	0	0	0	0	1	10456	755	27	5		5	NKX3-2	4	13543971	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	3759314	13543971	177610305	30	7802	11	2									
NKX3-2	579	broad.mit.edu	37	4	13543978	13543978	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:13543978G>A	uc003gmx.2	-	1	717	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	214					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTGCGCGTGGGAGAAAGCGGC	0.751													A	13543978	G	A	13543978	3	1	117	1	0	0	0	0	1	0	0	0	10456	1174	41	3	364	3	NKX3-2	4	13543978	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	7	13543978	177610298	31	7803	11	2									
KLF3	51274	broad.mit.edu	37	4	38698729	38698729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:38698729G>T	uc003gth.4	+	5	1215	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	295					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATGTACATGGGAAGGGTGCAC	0.403													T	38698729	G	T	38698729	4	4	117	1	0	0	0	0	0	1	0	0	8347	1175	41	5	901	5	KLF3	4	38698729	Nonsense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	25154751	38698729	152455547	32	7804											
TLL1	7092	broad.mit.edu	37	4	166978363	166978363	+	Missense_Mutation	SNP	G	G	A	rs141877254		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:166978363G>A	uc003irh.2	+	13	2395	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H	TLL1_uc011cjn.2_Missense_Mutation_p.R606H|TLL1_uc011cjo.2_Missense_Mutation_p.R407H	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	583	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAACCTGACCGTGGAGGCTGT	0.473													A	166978363	G	A	166978363	3	1	117	1	0	0	0	0	1	0	0	0	15942	1145	40	1	1802	1	TLL1	4	166978363	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	128279634	166978363	24175913	33	7805											
GPR98	84059	broad.mit.edu	37	5	89910651	89910651	+	Splice_Site	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:89910651G>T	uc003kju.3	+	2	119	c.23_splice	c.e2-1	p.G8_splice	GPR98_uc003kjt.3_Splice_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	8					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTGTTTTAGGGATGCCCTC	0.274													T	89910651	G	T	89910651	5	4	117	1	0	0	0	0	0	0	1	0	6721	1014	35	5	28	5	GPR98	5	89910651	Splice_Site	SNP	G	TCGA-12-0821-01A-01W-0424-08		89910651	91004609	34	7806											
SLCO6A1	133482	broad.mit.edu	37	5	101724473	101724473	+	Missense_Mutation	SNP	G	G	A	rs140805258	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:101724473G>A	uc003knn.3	-	11	2108	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	SLCO6A1_uc003kno.3_Missense_Mutation_p.R393W|SLCO6A1_uc003knp.3_Missense_Mutation_p.R646W|SLCO6A1_uc003knq.3_Missense_Mutation_p.R584W	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	646						integral to membrane|plasma membrane	transporter activity	p.R646L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTAACATCCCGTAAAATACAA	0.313													A	101724473	G	A	101724473	3	1	117	1	0	0	0	0	1	0	0	0	14732	1144	40	1	231	1	SLCO6A1	5	101724473	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	11813822	101724473	79190787	35	7807											
CD14	929	broad.mit.edu	37	5	140011717	140011717	+	Silent	SNP	C	C	T	rs150900616		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:140011717C>T	uc003lgi.2	-	1	1231	c.852G>A	c.(850-852)tcG>tcA	p.S284S	CD14_uc003lgj.2_Silent_p.S284S|CD14_uc021yej.1_Silent_p.S284S|CD14_uc021yek.1_Silent_p.S284S|CD14_uc021yel.1_Silent_p.S153S	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	284					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGCGAACGACAGATTGA	0.617													T	140011717	C	T	140011717	2	4	117	1	0	0	0	0	0	0	0	1	2964	523	19	1		1	CD14	5	140011717	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	38287244	140011717	40903543	36	7808											
WWC1	23286	broad.mit.edu	37	5	167880985	167880985	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:167880985G>A	uc003lzu.3	+	17	2631	c.2538G>A	c.(2536-2538)gaG>gaA	p.E846E	WWC1_uc003lzv.3_Silent_p.E846E|WWC1_uc011den.2_Silent_p.E846E|WWC1_uc003lzw.3_Silent_p.E645E|WWC1_uc010jjf.1_Silent_p.E118E	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	846	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTATGAGGAGACCAGTGAGA	0.537													A	167880985	G	A	167880985	2	1	117	1	0	0	0	0	0	0	0	1	17408	933	33	3		3	WWC1	5	167880985	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	27869268	167880985	13034275	37	7809											
FLOT1	10211	broad.mit.edu	37	6	30697825	30697826	+	Frame_Shift_Del	DEL	TT	TT	-	rs144712534	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:30697825_30697826delTT	uc003nrm.3	-	11	1391_1392	c.1227_1228delAA	c.(1225-1230)gaaagafs	p.E409fs	FLOT1_uc011dmr.2_Frame_Shift_Del_p.E361fs	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	409						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCTGTGAGTCTTTCCACACTCT	0.53													-	30697826	TT	-	30697825	7	5	117	1	0	1	0	1	0	0	0	0	5936	1617	56	0	63	0	FLOT1	6	30697825	Frame_Shift_Del	DEL	TT	TCGA-12-0821-01A-01W-0424-08		30697825	140417242	38	7810											
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939830	-	A	31939829	7	5	117	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	1242004	31939829	139175238	39	7811											
LGSN	51557	broad.mit.edu	37	6	63990164	63990164	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:63990164A>C	uc003peh.3	-	3	1326	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	431					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACTGCTATGAAGTCCATCTAA	0.478													C	63990164	A	C	63990164	3	2	117	1	0	0	0	0	1	0	0	0	8759	72	3	5	241	5	LGSN	6	63990164	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	32050335	63990164	107124903	40	7812											
FILIP1	27145	broad.mit.edu	37	6	76024397	76024397	+	Missense_Mutation	SNP	C	C	T	rs147080592		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:76024397C>T	uc010kbe.3	-	5	1690	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	FILIP1_uc003phy.1_Missense_Mutation_p.R384Q|FILIP1_uc003phz.3_Missense_Mutation_p.R285Q|FILIP1_uc003pia.3_Missense_Mutation_p.R384Q|FILIP1_uc003pib.1_Missense_Mutation_p.R136Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	384								p.R384Q(1)		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						CACACGCTTTCGAAGATTTTC	0.418													T	76024397	C	T	76024397	3	4	117	1	0	0	0	0	1	0	0	0	5894	884	31	2	2498	2	FILIP1	6	76024397	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	12034233	76024397	95090670	41	7813											
CASP8AP2	9994	broad.mit.edu	37	6	90577200	90577200	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:90577200G>A	uc003pnr.3	+	7	4387	c.4191G>A	c.(4189-4191)ccG>ccA	p.P1397P	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Silent_p.P1397P|CASP8AP2_uc011dzz.2_Silent_p.P1397P	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1397					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTTCATTGCCGGTTCATCCTG	0.393													A	90577200	G	A	90577200	2	1	117	1	0	0	0	0	0	0	0	1	2678	1103	39	2		2	CASP8AP2	6	90577200	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	14552803	90577200	80537867	42	7814											
SYNE1	23345	broad.mit.edu	37	6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	rs143049227		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:152461140C>T	uc021zhb.1	-	137	25626	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_uc003qos.4_Missense_Mutation_p.R2992H|SYNE1_uc003qot.4_Missense_Mutation_p.R8420H|SYNE1_uc003qou.4_Missense_Mutation_p.R8468H|SYNE1_uc011eez.2_Missense_Mutation_p.R670H|SYNE1_uc003qoq.4_Missense_Mutation_p.R670H|SYNE1_uc003qor.4_Missense_Mutation_p.R1391H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8468			R -> H (in a colorectal cancer sample; somatic mutation).		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.R8468H(8)		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)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)			T	152461140	C	T	152461140	3	4	117	1	0	0	0	0	1	0	0	0	15442	536	19	1	1018	1	SYNE1	6	152461140	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	61883940	152461140	18653927	43	7815											
FNDC1	84624	broad.mit.edu	37	6	159653439	159653439	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:159653439G>A	uc010kjv.3	+	10	2095	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	FNDC1_uc010kjw.1_Missense_Mutation_p.R517H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	632						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCTCTCATCGTCCTTCCCTG	0.682													A	159653439	G	A	159653439	3	1	117	1	0	0	0	0	1	0	0	0	5968	1145	40	1	1937	1	FNDC1	6	159653439	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	7192299	159653439	11461628	44	7816											
GPNMB	10457	broad.mit.edu	37	7	23309680	23309680	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:23309680C>T	uc003swc.3	+	8	1512	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	GPNMB_uc003swb.3_Silent_p.L439L|GPNMB_uc011jyy.2_Silent_p.L393L|GPNMB_uc011jyz.2_Silent_p.L340L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	451					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TGAGATGTGTCTGCTGACTGT	0.557													T	23309680	C	T	23309680	2	4	117	1	0	0	0	0	0	0	0	1	6620	912	32	3		3	GPNMB	7	23309680	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08		23309680	135828983	45	7817											
FAM188B	84182	broad.mit.edu	37	7	30890151	30890151	+	Silent	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:30890151A>G	uc003tbt.3	+	9	1604	c.1527A>G	c.(1525-1527)cgA>cgG	p.R509R	FAM188B_uc010kwe.3_Silent_p.R480R|FAM188B_uc011kac.1_5'Flank	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	509										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGGGGCCGAGAGAGAGCCG	0.622													G	30890151	A	G	30890151	2	3	117	1	0	0	0	0	0	0	0	1	5515	291	11	4		4	FAM188B	7	30890151	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	7580471	30890151	128248512	46	7818											
HECW1	23072	broad.mit.edu	37	7	43360338	43360338	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:43360338G>C	uc003tid.1	+	4	1062	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	HECW1_uc011kbi.1_Missense_Mutation_p.E153Q|HECW1_uc003tie.1_Missense_Mutation_p.E185Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	153					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.T152S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTACTTTGTGGAACGTGAGTA	0.458													C	43360338	G	C	43360338	3	2	117	1	0	0	0	0	1	0	0	0	7042	1175	41	5	467	5	HECW1	7	43360338	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	12470187	43360338	115778325	47	7819											
MUC17	140453	broad.mit.edu	37	7	100687031	100687031	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:100687031G>A	uc003uxp.1	+	2	12387	c.12334G>A	c.(12334-12336)Gct>Act	p.A4112T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4112						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					GACCACCACCGCTGTCCCCAC	0.507													A	100687031	G	A	100687031	3	1	117	1	0	0	0	0	1	0	0	0	9974	1087	38	1	12344	1	MUC17	7	100687031	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	57326693	100687031	58451632	48	7820											
CDHR3	222256	broad.mit.edu	37	7	105660912	105660912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:105660912delA	uc003vdl.4	+	12	1855	c.1747delA	c.(1747-1749)acafs	p.T583fs	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Frame_Shift_Del_p.T570fs|CDHR3_uc011klt.2_Frame_Shift_Del_p.T495fs|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	583	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GAAAGTTGGCACAAATATTCA	0.428													-	105660912	A	-	105660912	7	5	117	1	0	1	0	1	0	0	0	0	3120	159	6	0	1797	0	CDHR3	7	105660912	Frame_Shift_Del	DEL	A	TCGA-12-0821-01A-01W-0424-08	4973881	105660912	53477751	49	7821											
PPP1R3A	5506	broad.mit.edu	37	7	113558442	113558442	+	Nonsense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:113558442T>A	uc010ljy.1	-	0	641	c.610A>T	c.(610-612)Aaa>Taa	p.K204*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	204	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACTCAACTTTACTGCCATCT	0.318													A	113558442	T	A	113558442	4	1	117	1	0	0	0	0	0	1	0	0	12371	1763	61	5	2774	5	PPP1R3A	7	113558442	Nonsense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	7897530	113558442	45580221	50	7822											
BRAF	673	broad.mit.edu	37	7	140453141	140453141	+	Silent	SNP	A	A	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:140453141A>T	uc003vwc.4	-	14	1855	c.1794T>A	c.(1792-1794)gcT>gcA	p.A598A		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	598	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L597R(16)|p.A598_T599insV(13)|p.L597V(13)|p.L597S(13)|p.L597Q(13)|p.A598V(4)|p.L597L(3)|p.L597_A598insT(2)|p.A598T(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATTTCACTGTAGCTAGACCAA	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453141	A	T	140453141	2	4	117	1	0	0	0	0	0	0	0	1	1496	407	15	5		5	BRAF	7	140453141	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	26894699	140453141	18685522	51	7823											
CSMD1	64478	broad.mit.edu	37	8	2832079	2832079	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:2832079G>A	uc022aqr.1	-	55	9024	c.8634C>T	c.(8632-8634)ggC>ggT	p.G2878G	CSMD1_uc011kwj.2_Silent_p.G2208G|CSMD1_uc010lrg.3_Silent_p.G889G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2879	Sushi 21.					integral to membrane		p.G2607G(1)|p.G2878G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCACGACGGCGCCATAGGTAA	0.557													A	2832079	G	A	2832079	2	1	117	1	0	0	0	0	0	0	0	1	3944	1074	38	1		1	CSMD1	8	2832079	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		2832079	143531943	52	7824											
USP17L2	377630	broad.mit.edu	37	8	11995987	11995987	+	Silent	SNP	G	G	A	rs3988861		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:11995987G>A	uc003wvc.1	-	0	283	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	95					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L95L(2)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AGGCACTGCAGGGAAGCGTTC	0.567													A	11995987	G	A	11995987	2	1	117	1	0	0	0	0	0	0	0	1	17045	991	35	3		3	USP17L2	8	11995987	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	9163908	11995987	134368035	53	7825											
SLC7A2	6542	broad.mit.edu	37	8	17422587	17422587	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:17422587G>A	uc011kye.2	+	11	2077	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	SLC7A2_uc011kyc.2_Missense_Mutation_p.A637T|SLC7A2_uc011kyd.2_Missense_Mutation_p.A676T	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	637					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCATTCAAGCAAATGACCA	0.423													A	17422587	G	A	17422587	3	1	117	1	0	0	0	0	1	0	0	0	14697	971	34	3	2216	3	SLC7A2	8	17422587	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	5426600	17422587	128941435	54	7826											
DOK2	9046	broad.mit.edu	37	8	21771096	21771096	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:21771096A>C	uc003wzx.1	-	0	110	c.17T>G	c.(16-18)gTg>gGg	p.V6G	DOK2_uc003wzy.1_Missense_Mutation_p.V6G|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_5'UTR	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	6	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCTTGTTTCACTGCCCCGTC	0.582													C	21771096	A	C	21771096	3	2	117	1	0	0	0	0	1	0	0	0	4697	159	6	5	1241	5	DOK2	8	21771096	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	4348509	21771096	124592926	55	7827											
ELP3	55140	broad.mit.edu	37	8	27954764	27954764	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:27954764G>A	uc003xgo.4	+	1	196	c.48G>A	c.(46-48)atG>atA	p.M16I	ELP3_uc003xgn.4_Missense_Mutation_p.M1I|ELP3_uc011las.2_Intron|ELP3_uc011lat.2_5'UTR|ELP3_uc011laq.2_Intron|ELP3_uc011lar.2_5'UTR	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	16					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGCTGATGATGCTGACTATAG	0.368													A	27954764	G	A	27954764	3	1	117	1	0	0	0	0	1	0	0	0	5081	1319	46	3	54	3	ELP3	8	27954764	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	6183668	27954764	118409258	56	7828											
PCMTD1	115294	broad.mit.edu	37	8	52733124	52733124	+	Silent	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:52733124A>C	uc003xqx.4	-	5	1202	c.861T>G	c.(859-861)acT>acG	p.T287T	PCMTD1_uc011ldm.2_Silent_p.T157T|PCMTD1_uc011ldn.2_Silent_p.T99T|PCMTD1_uc010lya.3_Silent_p.T211T	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	287						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393													C	52733124	A	C	52733124	2	2	117	1	0	0	0	0	0	0	0	1	11586	59	3	5		5	PCMTD1	8	52733124	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	24778360	52733124	93630898	57	7829											
ANGPT1	284	broad.mit.edu	37	8	108276567	108276567	+	Silent	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:108276567T>C	uc003ymn.3	-	7	1686	c.1218A>G	c.(1216-1218)aaA>aaG	p.K406K	ANGPT1_uc011lhv.2_Silent_p.K206K|ANGPT1_uc003ymo.3_Silent_p.K405K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	406	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAGTGTGACCTTTTAAATACA	0.393													C	108276567	T	C	108276567	2	2	117	1	0	0	0	0	0	0	0	1	610	1606	56	4		4	ANGPT1	8	108276567	Silent	SNP	T	TCGA-12-0821-01A-01W-0424-08	55543443	108276567	38087455	58	7830											
MAMDC2	256691	broad.mit.edu	37	9	72755159	72755159	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr9:72755159G>A	uc004ahm.2	+	7	1710	c.1093G>A	c.(1093-1095)Gta>Ata	p.V365I	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	365	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCGAGTGAAAGTAAAACCAAA	0.458													A	72755159	G	A	72755159	3	1	117	1	0	0	0	0	1	0	0	0	9203	1029	36	3	1123	3	MAMDC2	9	72755159	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08		72755159	68458272	59	7831											
ATAD1	84896	broad.mit.edu	37	10	89550116	89550116	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:89550116G>A	uc001kez.1	-	3	712	c.333C>T	c.(331-333)atC>atT	p.I111I	ATAD1_uc010qmr.1_Silent_p.I53I|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Silent_p.I111I	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA.	111						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GTTTCTTTTTGATAGGTAAGA	0.358													A	89550116	G	A	89550116	2	1	117	1	0	0	0	0	0	0	0	1	1070	1280	45	3		3	ATAD1	10	89550116	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		89550116	45984631	60	7832											
MGEA5	10724	broad.mit.edu	37	10	103557792	103557792	+	Nonsense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:103557792A>C	uc001ktv.2	-	9	2372	c.1929T>G	c.(1927-1929)taT>taG	p.Y643*	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Y590*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Y590*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.Y643*	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	643	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TATCCCAAACATAGGAGTACA	0.418													C	103557792	A	C	103557792	4	2	117	1	0	0	0	0	0	1	0	0	9555	224	8	5	849	5	MGEA5	10	103557792	Nonsense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	14007676	103557792	31976955	61	7833											
OR51B6	390058	broad.mit.edu	37	11	5373426	5373426	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:5373426G>A	uc010qzb.2	+	0	689	c.689G>A	c.(688-690)gGa>gAa	p.G230E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G230G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCTGGAGGAGAAAGGGCC	0.418													A	5373426	G	A	5373426	3	1	117	1	0	0	0	0	1	0	0	0	11092	1174	41	3	691	3	OR51B6	11	5373426	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08		5373426	129633090	62	7834											
MICAL2	9645	broad.mit.edu	37	11	12225971	12225971	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:12225971G>T	uc001mjz.3	+	3	727	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	MICAL2_uc010rch.1_Missense_Mutation_p.G147W|MICAL2_uc001mjy.3_Missense_Mutation_p.G147W|MICAL2_uc001mka.3_Missense_Mutation_p.G147W|MICAL2_uc010rci.2_Missense_Mutation_p.G147W|MICAL2_uc001mkb.3_Missense_Mutation_p.G147W|MICAL2_uc001mkc.3_Missense_Mutation_p.G147W	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	147						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGTTCTATGGGAAGTTCTG	0.552													T	12225971	G	T	12225971	3	4	117	1	0	0	0	0	1	0	0	0	9570	1348	47	5	445	5	MICAL2	11	12225971	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	6852545	12225971	122780545	63	7835											
KCNC1	3746	broad.mit.edu	37	11	17757795	17757795	+	Silent	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:17757795G>T	uc009yhc.1	+	0	301	c.246G>T	c.(244-246)gtG>gtT	p.V82V	KCNC1_uc001mnk.4_Silent_p.V82V	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	82						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CAGCCGACGTGTGCGGGCCGC	0.677													T	17757795	G	T	17757795	2	4	117	1	0	0	0	0	0	0	0	1	8014	1364	48	5		5	KCNC1	11	17757795	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	5531824	17757795	117248721	64	7836											
UEVLD	55293	broad.mit.edu	37	11	18554017	18554017	+	Silent	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:18554017A>G	uc001mot.3	-	11	1346	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	UEVLD_uc001mou.3_3'UTR|UEVLD_uc010rde.2_Silent_p.N292N|UEVLD_uc010rdf.2_Silent_p.N400N|UEVLD_uc010rdg.2_Silent_p.N292N|UEVLD_uc001mov.3_3'UTR	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	422					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACACTTCACTATTTATATCAT	0.313													G	18554017	A	G	18554017	2	3	117	1	0	0	0	0	0	0	0	1	16930	446	16	4		4	UEVLD	11	18554017	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	796222	18554017	116452499	65	7837											
QSER1	79832	broad.mit.edu	37	11	32955067	32955067	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:32955067C>G	uc001mty.3	+	3	2143	c.1876C>G	c.(1876-1878)Ctg>Gtg	p.L626V	QSER1_uc001mtz.1_Missense_Mutation_p.L387V|QSER1_uc001mua.3_Missense_Mutation_p.L131V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	626										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGGGGTTGCTCTGCAAGCATC	0.378													G	32955067	C	G	32955067	3	3	117	1	0	0	0	0	1	0	0	0	12882	912	32	5	1882	5	QSER1	11	32955067	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	14401050	32955067	102051449	66	7838											
OR5A1	219982	broad.mit.edu	37	11	59211078	59211078	+	Missense_Mutation	SNP	G	G	T	rs143071629	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:59211078G>T	uc001nnx.1	+	0	437	c.437G>T	c.(436-438)cGc>cTc	p.R146L		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTCTGTACACGCATGGTGGTT	0.552													T	59211078	G	T	59211078	3	4	117	1	0	0	0	0	1	0	0	0	11139	1087	38	5	439	5	OR5A1	11	59211078	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	26256011	59211078	75795438	67	7839											
ODZ4	26011	broad.mit.edu	37	11	78380644	78380644	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:78380644C>A	uc001ozl.4	-	31	7209	c.6746G>T	c.(6745-6747)gGt>gTt	p.G2249V	ODZ4_uc001ozk.4_Missense_Mutation_p.G474V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2249					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TTGCACGTCACCCAGCCGAGT	0.562													A	78380644	C	A	78380644	3	1	117	1	0	0	0	0	1	0	0	0	10837	507	18	5	1575	5	ODZ4	11	78380644	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	19169566	78380644	56625872	68	7840											
APOA4	337	broad.mit.edu	37	11	116691955	116691955	+	Silent	SNP	G	G	A	rs146365840	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:116691955G>A	uc001pps.1	-	2	923	c.819C>T	c.(817-819)gaC>gaT	p.D273D		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGCCACGCACGTCCTCGGCCA	0.672													A	116691955	G	A	116691955	2	1	117	1	0	0	0	0	0	0	0	1	783	1136	40	1		1	APOA4	11	116691955	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	38311311	116691955	18314561	69	7841											
TWF1	5756	broad.mit.edu	37	12	44200088	44200100	+	Frame_Shift_Del	DEL	GCCAGCGGCCCCG	GCCAGCGGCCCCG	-			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:44200088_44200100delGCCAGCGGCCCCG	uc001roa.3	-	0	79_91	c.51_63delCGGGGCCGCTGGC	c.(49-63)gccggggccgctggcfs	p.A17fs	TWF1_uc001rnz.3_5'Flank|TWF1_uc001rob.3_5'UTR|TWF1_uc001roc.3_5'UTR	NM_002822	NP_002813	Q12792	TWF1_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.	0	ADF-H 1.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		GCTGAGTGCAGCCAgcggccccggccggcggcc	0.775													-	44200100	GCCAGCGGCCCCG	-	44200088	7	5	117	1	0	1	0	1	0	0	0	0	16778	958	34	0	1127	0	TWF1	12	44200088	Frame_Shift_Del	DEL	GCCAGCGGCCCCG	TCGA-12-0821-01A-01W-0424-08		44200088	89651807	70	7842											
ZBTB39	9880	broad.mit.edu	37	12	57398062	57398062	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:57398062T>G	uc001sml.2	-	1	793	c.640A>C	c.(640-642)Acc>Ccc	p.T214P	ZBTB39_uc021qzg.1_Missense_Mutation_p.T214P	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D213G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGAGCAGGGGTGTCATGGTCT	0.572													G	57398062	T	G	57398062	3	3	117	1	0	0	0	0	1	0	0	0	17537	1696	59	5	1502	5	ZBTB39	12	57398062	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	13197974	57398062	76453833	71	7843											
LRRIQ1	84125	broad.mit.edu	37	12	85450302	85450302	+	Silent	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:85450302T>C	uc001tac.3	+	7	1842	c.1731T>C	c.(1729-1731)gaT>gaC	p.D577D	LRRIQ1_uc021rbo.1_Silent_p.D455D|LRRIQ1_uc001taa.1_Silent_p.D552D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	577										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)		TAATCAAAGATAATCAGCAGA	0.289													C	85450302	T	C	85450302	2	2	117	1	0	0	0	0	0	0	0	1	9029	1403	49	4		4	LRRIQ1	12	85450302	Silent	SNP	T	TCGA-12-0821-01A-01W-0424-08	28052240	85450302	48401593	72	7844											
WSB2	55884	broad.mit.edu	37	12	118490112	118490113	+	Splice_Site	INS	-	-	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:118490112_118490113insA	uc001twr.2	-	2	280	c.182_splice	c.e2+1	p.F61_splice	WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_Splice_Site|WSB2_uc009zws.1_Splice_Site_p.F61_splice	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	61					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGAATACTTACAACTGCTCC	0.55													A	118490113	-	A	118490112	8	5	117	1	0	1	1	0	0	0	1	0	17402	1769	61	0		0	WSB2	12	118490112	Splice_Site	INS	-	TCGA-12-0821-01A-01W-0424-08	33039810	118490112	15361783	73	7845											
ATP8A2	51761	broad.mit.edu	37	13	26411335	26411335	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:26411335T>A	uc001uqk.3	+	28	2931	c.2789T>A	c.(2788-2790)aTc>aAc	p.I930N	ATP8A2_uc010tdi.2_Missense_Mutation_p.I865N|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.I480N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	890					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			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)		ACTCTGGGAATCTTTGAGAGG	0.502													A	26411335	T	A	26411335	3	1	117	1	0	0	0	0	1	0	0	0	1193	1435	50	5	2903	5	ATP8A2	13	26411335	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08		26411335	88758543	74	7846											
WASF3	10810	broad.mit.edu	37	13	27256966	27256967	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:27256966_27256967insC	uc001uqv.3	+	8	1431_1432	c.1206_1207insC	c.(1204-1209)cctcccfs	p.P402fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P399fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	402	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCCACCACCTCCCCCGCCAGG	0.708													C	27256967	-	C	27256966	7	5	117	1	0	1	1	0	0	0	0	0	17251	1538	54	0	1232	0	WASF3	13	27256966	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	845631	27256966	87912912	75	7847											
FLT1	2321	broad.mit.edu	37	13	28880897	28880897	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:28880897C>T	uc001usb.3	-	28	4018	c.3733G>A	c.(3733-3735)Gac>Aac	p.D1245N	FLT1_uc010aap.2_Missense_Mutation_p.D250N|FLT1_uc010aaq.2_Missense_Mutation_p.D370N|FLT1_uc001usa.3_Missense_Mutation_p.D463N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1245					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			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)	GTGCTGCTGTCGCCCTGGTAG	0.552													T	28880897	C	T	28880897	3	4	117	1	0	0	0	0	1	0	0	0	5941	884	31	2	291	2	FLT1	13	28880897	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	1623931	28880897	86288981	76	7848											
FLT1	2321	broad.mit.edu	37	13	29004213	29004213	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:29004213C>T	uc001usb.3	-	7	1365	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	FLT1_uc010aar.1_Silent_p.K360K|FLT1_uc001usc.3_Silent_p.K360K|FLT1_uc010tdp.1_Silent_p.K360K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	360	Ig-like C2-type 4.				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			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)	AGGGAAATGCCTTCACTTTCA	0.443													T	29004213	C	T	29004213	2	4	117	1	0	0	0	0	0	0	0	1	5941	680	24	3		3	FLT1	13	29004213	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	123316	29004213	86165665	77	7849											
DOCK9	23348	broad.mit.edu	37	13	99549805	99549805	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:99549805T>A	uc001vnt.2	-	14	1704	c.1649A>T	c.(1648-1650)tAc>tTc	p.Y550F	DOCK9_uc001vnw.2_Missense_Mutation_p.Y549F|DOCK9_uc021rlw.1_Missense_Mutation_p.Y549F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.Y550F|DOCK9_uc010tis.1_Missense_Mutation_p.Y549F|DOCK9_uc010tit.1_Missense_Mutation_p.Y550F|DOCK9_uc010afu.1_Missense_Mutation_p.Y365F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	550					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTCTTGCCTGTAGATGGCAGA	0.383													A	99549805	T	A	99549805	3	1	117	1	0	0	0	0	1	0	0	0	4694	1638	57	5	4789	5	DOCK9	13	99549805	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	70545592	99549805	15620073	78	7850											
COL4A2	1284	broad.mit.edu	37	13	111132630	111132630	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:111132630G>T	uc001vqx.3	+	30	2940	c.2651G>T	c.(2650-2652)gGt>gTt	p.G884V		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	884	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCATGAAAGGTCTCTCTGGT	0.582													T	111132630	G	T	111132630	3	4	117	1	0	0	0	0	1	0	0	0	3690	1261	44	5	2769	5	COL4A2	13	111132630	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	11582825	111132630	4037248	79	7851											
ZFYVE26	23503	broad.mit.edu	37	14	68247033	68247033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:68247033C>T	uc001xka.2	-	22	4738	c.4599G>A	c.(4597-4599)tgG>tgA	p.W1533*	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Nonsense_Mutation_p.W1533*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1533					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCAGTCACACCACACTGGGG	0.502													T	68247033	C	T	68247033	4	4	117	1	0	0	0	0	0	1	0	0	17665	508	18	3	3100	3	ZFYVE26	14	68247033	Nonsense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		68247033	39102507	80	7852											
NDUFB1	4707	broad.mit.edu	37	14	92588104	92588104	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:92588104G>C	uc001yaf.3	-	0	50	c.18C>G	c.(16-18)caC>caG	p.H6Q	NDUFB1_uc001yag.1_Non-coding_Transcript|CPSF2_uc001yah.2_5'Flank	NM_004545	NP_004536	O75438	NDUB1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa (NDUFB1), nuclear gene encoding mitochondrial protein, mRNA.	14					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	GAGCAGAGGGGTGACGCCAGC	0.517													C	92588104	G	C	92588104	3	2	117	1	0	0	0	0	1	0	0	0	10278	1252	44	5	311	5	NDUFB1	14	92588104	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	24341071	92588104	14761436	81	7853											
SERPINA1	5265	broad.mit.edu	37	14	94849084	94849084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:94849084G>T	uc001ycy.4	-	3	1045	c.491C>A	c.(490-492)tCa>tAa	p.S164*	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auy.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ycz.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auz.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010ava.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydb.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010avb.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydc.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auw.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010aux.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001yda.1_Nonsense_Mutation_p.S164*	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	164					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GAAGGCTTCTGAGTGGTACAA	0.502													T	94849084	G	T	94849084	4	4	117	1	0	0	0	0	0	1	0	0	14086	1294	45	5	781	5	SERPINA1	14	94849084	Nonsense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	2260980	94849084	12500456	82	7854											
LCMT2	9836	broad.mit.edu	37	15	43622424	43622425	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:43622424_43622425delGA	uc001zrg.3	-	0	396_397	c.263_264delTC	c.(262-264)ctcfs	p.L88fs	ADAL_uc001zrh.3_5'Flank|ADAL_uc010udo.2_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	Homo sapiens leucine carboxyl methyltransferase 2 (LCMT2), mRNA.	88					tRNA processing		methyltransferase activity|protein binding			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)	AGCCAGCGCCGAGAGACAAGAT	0.668													-	43622425	GA	-	43622424	7	5	117	1	0	1	0	1	0	0	0	0	8679	1045	37	0	1800	0	LCMT2	15	43622424	Frame_Shift_Del	DEL	GA	TCGA-12-0821-01A-01W-0424-08		43622424	58908968	83	7855											
UNC13C	440279	broad.mit.edu	37	15	54624283	54624283	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:54624283T>A	uc021smr.1	+	12	4462	c.4462T>A	c.(4462-4464)Ttg>Atg	p.L1488M	UNC13C_uc021sms.1_Missense_Mutation_p.L1490M|UNC13C_uc002acl.3_Missense_Mutation_p.L320M	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1490					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACATAACTCTTTGAGGATTGA	0.328													A	54624283	T	A	54624283	3	1	117	1	0	0	0	0	1	0	0	0	16983	1838	64	5	4518	5	UNC13C	15	54624283	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	11001859	54624283	47907109	84	7856											
MCTP2	55784	broad.mit.edu	37	15	94899492	94899492	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:94899492G>T	uc002btj.3	+	7	1197	c.1132G>T	c.(1132-1134)Gtc>Ttc	p.V378F	MCTP2_uc010urg.1_Missense_Mutation_p.V378F|MCTP2_uc002bti.2_Missense_Mutation_p.V378F|MCTP2_uc010boj.3_Missense_Mutation_p.V107F|MCTP2_uc010bok.3_Missense_Mutation_p.V378F|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	378	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGAGATGTTTGTCCAGTTAAA	0.348													T	94899492	G	T	94899492	3	4	117	1	0	0	0	0	1	0	0	0	9401	1377	48	5	1162	5	MCTP2	15	94899492	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	40275209	94899492	7631900	85	7857											
CLEC16A	23274	broad.mit.edu	37	16	11118694	11118694	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:11118694G>C	uc021tcy.1	+	12	1683	c.1453G>C	c.(1453-1455)Gtg>Ctg	p.V485L	CLEC16A_uc002dan.4_Missense_Mutation_p.V467L|CLEC16A_uc002dao.3_Missense_Mutation_p.V483L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	485								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTGGATATGGTGTACCACGC	0.547													C	11118694	G	C	11118694	3	2	117	1	0	0	0	0	1	0	0	0	3500	1261	44	5	1499	5	CLEC16A	16	11118694	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08		11118694	79236059	86	7858											
CHST4	10164	broad.mit.edu	37	16	71570968	71570968	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:71570968C>T	uc021tkt.1	+	0	388	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CHST4_uc002fan.3_Missense_Mutation_p.R130W|CHST4_uc002fao.3_Missense_Mutation_p.R130W	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	130					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGAGAACAGCCGGGCCCTGTG	0.572													T	71570968	C	T	71570968	3	4	117	1	0	0	0	0	1	0	0	0	3406	643	23	2	390	2	CHST4	16	71570968	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	60452274	71570968	18783785	87	7859											
ZCCHC14	23174	broad.mit.edu	37	16	87448975	87448975	+	Splice_Site	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:87448975T>G	uc002fjz.1	-	9	1000	c.973_splice	c.e9-1	p.F325_splice	ZCCHC14_uc002fka.1_Splice_Site|ZCCHC14_uc002fkb.3_Splice_Site_p.F101_splice	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	325					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTCAAAAACTTTCACAGAAA	0.398													G	87448975	T	G	87448975	5	3	117	1	0	0	0	0	0	0	1	0	17580	1623	56	5	1898	5	ZCCHC14	16	87448975	Splice_Site	SNP	T	TCGA-12-0821-01A-01W-0424-08	15878007	87448975	2905778	88	7860											
ALOX15	246	broad.mit.edu	37	17	4542381	4542381	+	Silent	SNP	C	C	G	rs146477215		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr17:4542381C>G	uc002fyh.3	-	2	409	c.384G>C	c.(382-384)cgG>cgC	p.R128R	ALOX15_uc010vsd.2_Silent_p.R89R|ALOX15_uc010vse.2_Silent_p.R150R	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	128	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R128R(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GCTCTTCTTCCCGGTGTTTCT	0.577													G	4542381	C	G	4542381	2	3	117	1	0	0	0	0	0	0	0	1	538	610	22	5		5	ALOX15	17	4542381	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08		4542381	76652829	89	7861											
DAPK3	1613	broad.mit.edu	37	19	3961153	3961153	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:3961153G>A	uc002lzc.1	-	5	730	c.636C>T	c.(634-636)agC>agT	p.S212S	DAPK3_uc002lzb.1_5'UTR|DAPK3_uc002lzd.1_Silent_p.S212S	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	212	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGCACCGCTCAGGCTGC	0.662													A	3961153	G	A	3961153	2	1	117	1	0	0	0	0	0	0	0	1	4237	1078	38	1		1	DAPK3	19	3961153	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		3961153	55167830	90	7862											
TSPAN16	26526	broad.mit.edu	37	19	11411902	11411902	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:11411902C>T	uc002mqv.1	+	3	518	c.368C>T	c.(367-369)aCc>aTc	p.T123I	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	123						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TTGGAACACACCTTCGTGACC	0.498													T	11411902	C	T	11411902	3	4	117	1	0	0	0	0	1	0	0	0	16637	507	18	3	382	3	TSPAN16	19	11411902	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	7450749	11411902	47717081	91	7863											
CYP4F12	66002	broad.mit.edu	37	19	15791069	15791069	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:15791069A>G	uc002nbl.3	+	3	478	c.359A>G	c.(358-360)aAg>aGg	p.K120R	CYP4F12_uc010xoo.2_Missense_Mutation_p.K120R|CYP4F12_uc010xop.2_Missense_Mutation_p.K120R	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											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)					ATTGCACCCAAGGATAATCTC	0.562													G	15791069	A	G	15791069	3	3	117	1	0	0	0	0	1	0	0	0	4187	72	3	4	369	4	CYP4F12	19	15791069	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	4379167	15791069	43337914	92	7864											
YJEFN3	51079	broad.mit.edu	37	19	19638108	19638108	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:19638108C>T	uc002nmt.2	+						YJEFN3_uc021uqu.1_Silent_p.D64D|YJEFN3_uc021uqv.1_Silent_p.D64D|YJEFN3_uc021uqw.1_Silent_p.D64D|YJEFN3_uc010ecf.2_5'Flank|YJEFN3_uc002nmu.2_5'Flank	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.											NS(1)|breast(1)|lung(3)	5						AAATCGAGGACTTCGAGGCTC	0.642													T	19638108	C	T	19638108	2	4	117	1	0	0	0	0	0	0	0	1	17481	564	20	3		3	YJEFN3	19	19638108	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	3847039	19638108	39490875	93	7865											
ZNF536	9745	broad.mit.edu	37	19	30934639	30934639	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:30934639A>G	uc002nsu.1	+	1	308	c.170A>G	c.(169-171)gAg>gGg	p.E57G	ZNF536_uc010edd.1_Missense_Mutation_p.E57G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P56A(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)					CCCAACCCCGAGGAGAAGCCC	0.677													G	30934639	A	G	30934639	3	3	117	1	0	0	0	0	1	0	0	0	17971	304	11	4	172	4	ZNF536	19	30934639	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	11296531	30934639	28194344	94	7866											
GPR4	2828	broad.mit.edu	37	19	46094672	46094672	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:46094672C>T	uc002pcm.3	-	1	1398	c.453G>A	c.(451-453)gcG>gcA	p.A151A	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.A151A	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	151						integral to plasma membrane	G-protein coupled receptor activity	p.A151S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGAACAGGGGCGCCGAGTTGG	0.657													T	46094672	C	T	46094672	2	4	117	1	0	0	0	0	0	0	0	1	6694	755	27	1		1	GPR4	19	46094672	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	15160033	46094672	13034311	95	7867											
ZNF814	730051	broad.mit.edu	37	19	58385050	58385050	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:58385050G>A	uc002qqo.2	-	2	1980	c.1708C>T	c.(1708-1710)Cac>Tac	p.H570Y	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	570					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCTAGGGTGAACTCGCTGA	0.468													A	58385050	G	A	58385050	3	1	117	1	0	0	0	0	1	0	0	0	18173	1290	45	3	863	3	ZNF814	19	58385050	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	12290378	58385050	743933	96	7868											
SRMS	6725	broad.mit.edu	37	20	62172863	62172863	+	Missense_Mutation	SNP	C	C	T	rs61740255		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr20:62172863C>T	uc002yfi.1	-	5	1098	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	353	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACGTTCCGGGCGGCCAAGTCC	0.706													T	62172863	C	T	62172863	3	4	117	1	0	0	0	0	1	0	0	0	15151	768	27	1	421	1	SRMS	20	62172863	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		62172863	852657	97	7869											
ZNRF3	84133	broad.mit.edu	37	22	29440867	29440867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:29440867C>T	uc003aeg.3	+	4	733	c.733C>T	c.(733-735)Cga>Tga	p.R245*	ZNRF3_uc021wnq.1_Nonsense_Mutation_p.R145*	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	245						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCTGAAGCAGCGACGCAGTCA	0.512													T	29440867	C	T	29440867	4	4	117	1	0	0	0	0	0	1	0	0	18210	760	27	1	447	1	ZNRF3	22	29440867	Nonsense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		29440867	21863699	98	7870											
GCAT	23464	broad.mit.edu	37	22	38211771	38211771	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:38211771G>A	uc003aua.2	+	6	1057	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	GCAT_uc003atz.3_Missense_Mutation_p.A306T	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	306					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CGTTGGCTGCGCCTCCAAGGC	0.657													A	38211771	G	A	38211771	3	1	117	1	0	0	0	0	1	0	0	0	6284	1087	38	1	1020	1	GCAT	22	38211771	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	8770904	38211771	13092795	99	7871											
NXF3	56000	broad.mit.edu	37	X	102339283	102339283	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:102339283C>G	uc004eju.3	-	2	409	c.338G>C	c.(337-339)tGg>tCg	p.W113S	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.W113S|NXF3_uc011mrx.1_Missense_Mutation_p.W24S	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	113	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATCTTGAACCAGCTCCCTAA	0.463													G	102339283	C	G	102339283	3	3	117	1	0	0	0	0	1	0	0	0	10785	595	21	5	1325	5	NXF3	23	102339283	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		102339283	52931277	100	7872											
WDR44	54521	broad.mit.edu	37	X	117527112	117527112	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:117527112G>A	uc004eqn.3	+	3	1135	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_uc004eqo.3_Missense_Mutation_p.R235H|WDR44_uc011mtr.2_Missense_Mutation_p.R210H|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	235	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GTTCCAGCACGCCCACCTCCT	0.522													A	117527112	G	A	117527112	3	1	117	1	0	0	0	0	1	0	0	0	17293	1087	38	1	718	1	WDR44	23	117527112	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	15187829	117527112	37743448	101	7873											
STAG2	10735	broad.mit.edu	37	X	123176497	123176497	+	Splice_Site	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:123176497T>C	uc004eua.3	+	7	866	c.462_splice	c.e7+2	p.E154_splice	STAG2_uc004etz.4_Splice_Site_p.E154_splice|STAG2_uc004eub.3_Splice_Site_p.E154_splice|STAG2_uc004euc.3_Splice_Site_p.E154_splice|STAG2_uc004eud.3_Splice_Site_p.E154_splice|STAG2_uc004eue.3_Splice_Site_p.E154_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	154					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCGATGAGGTAACTTACTAC	0.333													C	123176497	T	C	123176497	5	2	117	1	0	0	0	0	0	0	1	0	15242	1652	57	4	482	4	STAG2	23	123176497	Splice_Site	SNP	T	TCGA-12-0821-01A-01W-0424-08	5649385	123176497	32094063	102	7874											
GPC4	2239	broad.mit.edu	37	X	132458560	132458560	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:132458560G>A	uc004exc.1	-	2	536	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_uc011mvg.1_Silent_p.F38F	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	108					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294													A	132458560	G	A	132458560	2	1	117	1	0	0	0	0	0	0	0	1	6600	933	33	3		3	GPC4	23	132458560	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	9282063	132458560	22812000	103	7875											
SPANXC	64663	broad.mit.edu	37	X	140335819	140335820	+	Frame_Shift_Ins	INS	-	-	T	rs57835830	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:140335819_140335820insT	uc004fbk.3	-	1	180_181	c.124_125insA	c.(124-126)atgfs	p.M42fs	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	42						cytoplasm|nucleus		p.M42L(2)|p.M42I(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					AGATGTTTTCATTTTTTTAGGA	0.5													T	140335820	-	T	140335819	7	5	117	1	0	1	1	0	0	0	0	0	14987	217	8	0	172	0	SPANXC	23	140335819	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	7877259	140335819	14934741	104	7876											
UBR4	23352	broad.mit.edu	37	1	19484449	19484449	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:19484449G>A	uc001bbi.3	-	39	5624	c.5620C>T	c.(5620-5622)Cgg>Tgg	p.R1874W	UBR4_uc001bbl.1_5'Flank|UBR4_uc001bbm.1_Missense_Mutation_p.R1085W	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1874					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAATTCATCCGCACATTCTCA	0.537													A	19484449	G	A	19484449	3	1	118	1	0	0	0	0	1	0	0	0	16901	1086	38	1	10199	1	UBR4	1	19484449	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		19484449	229766172	1	7877											
C1orf173	127254	broad.mit.edu	37	1	75038513	75038513	+	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:75038513C>G	uc001dgg.3	-	13	3100	c.2881G>C	c.(2881-2883)Gac>Cac	p.D961H		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	961	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GATGCTGTGTCCTCCATGGGT	0.522													G	75038513	C	G	75038513	3	3	118	1	0	0	0	0	1	0	0	0	2014	855	30	5	1715	5	C1orf173	1	75038513	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	55554064	75038513	174212108	2	7878											
C1orf173	127254	broad.mit.edu	37	1	75055650	75055650	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:75055650C>A	uc001dgg.3	-	11	2060	c.1841G>T	c.(1840-1842)aGt>aTt	p.S614I	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S408I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	614	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTGGCACTTTCATCTGT	0.448													A	75055650	C	A	75055650	3	1	118	1	0	0	0	0	1	0	0	0	2014	565	20	5	2763	5	C1orf173	1	75055650	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	17137	75055650	174194971	3	7879											
NGF	4803	broad.mit.edu	37	1	115828831	115828831	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:115828831G>A	uc021osd.1	-	0	586	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	NGF_uc001efu.1_Missense_Mutation_p.H196Y	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	196					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GAGTTCCAGTGCTTTGAGTCA	0.517													A	115828831	G	A	115828831	3	1	118	1	0	0	0	0	1	0	0	0	10395	1319	46	3	143	3	NGF	1	115828831	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	40773181	115828831	133421790	4	7880											
SPTA1	6708	broad.mit.edu	37	1	158641934	158641934	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:158641934C>T	uc001fst.1	-	10	1602	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	468					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R468H(2)|p.E467K(1)|p.R468C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGACGATGACGCTCGTCCCA	0.438													T	158641934	C	T	158641934	3	4	118	1	0	0	0	0	1	0	0	0	15115	536	19	1	6024	1	SPTA1	1	158641934	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	42813103	158641934	90608687	5	7881											
FAM5C	339479	broad.mit.edu	37	1	190067205	190067205	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:190067205C>T	uc001gse.1	-	7	2476	c.2244G>A	c.(2242-2244)gcG>gcA	p.A748A	FAM5C_uc010pot.1_Silent_p.A646A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	748						extracellular region		p.Q747P(1)|p.A748V(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)					TGGCATTAAACGCCTGCAGAG	0.423													T	190067205	C	T	190067205	2	4	118	1	0	0	0	0	0	0	0	1	5594	523	19	1		1	FAM5C	1	190067205	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	31425271	190067205	59183416	6	7882											
OBSCN	84033	broad.mit.edu	37	1	228466482	228466482	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:228466482G>A	uc009xez.1	+	25	6996	c.6952G>A	c.(6952-6954)Gcc>Acc	p.A2318T	OBSCN_uc001hsn.3_Missense_Mutation_p.A2318T|OBSCN_uc001hsp.1_Missense_Mutation_p.A17T|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2318	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGGCCAGCGCCCAGGTGCG	0.637													A	228466482	G	A	228466482	3	1	118	1	0	0	0	0	1	0	0	0	10812	1087	38	1	7050	1	OBSCN	1	228466482	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	38399277	228466482	20784139	7	7883											
OR2M4	26245	broad.mit.edu	37	1	248403138	248403138	+	Missense_Mutation	SNP	A	A	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:248403138A>T	uc010pzh.2	+	0	908	c.908A>T	c.(907-909)aAg>aTg	p.K303M		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			GCACTACAGAAGGTACTGAAG	0.398													T	248403138	A	T	248403138	3	4	118	1	0	0	0	0	1	0	0	0	11012	72	3	5	910	5	OR2M4	1	248403138	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	19936656	248403138	847483	8	7884											
MYT1L	23040	broad.mit.edu	37	2	1926184	1926184	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:1926184C>T	uc002qxe.3	-	9	2184	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	MYT1L_uc002qxd.3_Missense_Mutation_p.A453T|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	453					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTTCCATGGCCATCTTCTCC	0.537													T	1926184	C	T	1926184	3	4	118	1	0	0	0	0	1	0	0	0	10107	739	26	3	2261	3	MYT1L	2	1926184	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		1926184	241273189	9	7885											
FAM98A	25940	broad.mit.edu	37	2	33810356	33810356	+	Silent	SNP	G	G	A	rs34080556		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:33810356G>A	uc002rpa.1	-	7	1118	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	FAM98A_uc010yne.1_Silent_p.Y153Y|FAM98A_uc010ynd.1_Silent_p.Y179Y|FAM98A_uc002roz.1_Silent_p.Y186Y	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	349	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTCGTCCTCCGTATGAGGAAT	0.597													A	33810356	G	A	33810356	2	1	118	1	0	0	0	0	0	0	0	1	5656	1140	40	1		1	FAM98A	2	33810356	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	31884172	33810356	209389017	10	7886											
SNRNP200	23020	broad.mit.edu	37	2	96957584	96957584	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:96957584G>A	uc002svu.3	-	16	2347	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	739	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R739W(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACATGTCCCGGATGGCCCTG	0.557													A	96957584	G	A	96957584	3	1	118	1	0	0	0	0	1	0	0	0	14852	1115	39	2	4311	2	SNRNP200	2	96957584	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	63147228	96957584	146241789	11	7887											
ST6GAL2	84620	broad.mit.edu	37	2	107460248	107460248	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:107460248C>T	uc002tdq.3	-	1	305	c.186G>A	c.(184-186)atG>atA	p.M62I	ST6GAL2_uc002tdr.3_Missense_Mutation_p.M62I|ST6GAL2_uc002tds.3_Missense_Mutation_p.M62I	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	62					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGCGGCGCCCATGATGGCCC	0.711													T	107460248	C	T	107460248	3	4	118	1	0	0	0	0	1	0	0	0	15221	594	21	3	1510	3	ST6GAL2	2	107460248	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	10502664	107460248	135739125	12	7888											
TTN	7273	broad.mit.edu	37	2	179454762	179454762	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:179454762C>T	uc021vsy.1	-	252	54211	c.53986G>A	c.(53986-53988)Gtt>Att	p.V17996I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V11691I|TTN_uc021vta.1_Missense_Mutation_p.V11624I|TTN_uc021vtb.1_Missense_Mutation_p.V11499I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18923	Fibronectin type-III 30.						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)			AGGACGTTAACGATGGCTGAA	0.428													T	179454762	C	T	179454762	3	4	118	1	0	0	0	0	1	0	0	0	16732	536	19	1	46525	1	TTN	2	179454762	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	71994514	179454762	63744611	13	7889											
TTN	7273	broad.mit.edu	37	2	179584862	179584862	+	Missense_Mutation	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:179584862A>G	uc021vsy.1	-	77	20000	c.19775T>C	c.(19774-19776)aTc>aCc	p.I6592T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I3253T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7519	Ig-like 47.						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)			ACTCTCTCTGATGACTTCACC	0.448													G	179584862	A	G	179584862	3	3	118	1	0	0	0	0	1	0	0	0	16732	333	12	4	81150	4	TTN	2	179584862	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	130100	179584862	63614511	14	7890											
ZDBF2	57683	broad.mit.edu	37	2	207173138	207173138	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:207173138G>A	uc002vbp.2	+	4	4136	c.3886G>A	c.(3886-3888)Gta>Ata	p.V1296I		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1296							nucleic acid binding|zinc ion binding	p.V1296I(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTTCAGTCCGTAACTAATAA	0.383													A	207173138	G	A	207173138	3	1	118	1	0	0	0	0	1	0	0	0	17596	1145	40	1	3896	1	ZDBF2	2	207173138	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	27588276	207173138	36026235	15	7891											
SPEG	10290	broad.mit.edu	37	2	220346370	220346370	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:220346370G>A	uc010fwg.3	+	27	5533	c.5533G>A	c.(5533-5535)Gca>Aca	p.A1845T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1845	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			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)		GAGACCTACCGCAGAAGAGAC	0.458													A	220346370	G	A	220346370	3	1	118	1	0	0	0	0	1	0	0	0	15035	1087	38	1	5655	1	SPEG	2	220346370	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	13173232	220346370	22853003	16	7892											
DGKD	8527	broad.mit.edu	37	2	234360642	234360642	+	Missense_Mutation	SNP	G	G	A	rs145038453	byFrequency	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:234360642G>A	uc002vui.1	+	17	2212	c.2200G>A	c.(2200-2202)Ggt>Agt	p.G734S	DGKD_uc002vuj.1_Missense_Mutation_p.G690S|DGKD_uc010fyh.1_Missense_Mutation_p.G601S|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	734					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.G734fs*12(1)|p.P733S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCCTTACCCGGTGGCTCAGT	0.493													A	234360642	G	A	234360642	3	1	118	1	0	0	0	0	1	0	0	0	4467	1116	39	2	2294	2	DGKD	2	234360642	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	14014272	234360642	8838731	17	7893											
GPR35	2859	broad.mit.edu	37	2	241569721	241569721	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:241569721G>A	uc010fzi.2	+	5	1317	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	GPR35_uc010fzh.2_Missense_Mutation_p.V149M|GPR35_uc021vze.1_Missense_Mutation_p.V118M|GPR35_uc002vzs.2_Missense_Mutation_p.V118M	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	118						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CTATGTGGCCGTGCGGCACCC	0.701													A	241569721	G	A	241569721	3	1	118	1	0	0	0	0	1	0	0	0	6690	1145	40	1	354	1	GPR35	2	241569721	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	7209079	241569721	1629652	18	7894											
DTYMK	1841	broad.mit.edu	37	2	242617899	242617899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:242617899delG	uc002wbz.2	-	3	681	c.496delC	c.(496-498)cagfs	p.Q166fs	DTYMK_uc010zpa.2_Frame_Shift_Del_p.Q142fs|DTYMK_uc002wca.2_Non-coding_Transcript|DTYMK_uc010zpb.2_Non-coding_Transcript|DTYMK_uc002wcb.1_5'Flank	NM_012145	NP_036277	P23919	KTHY_HUMAN	Homo sapiens deoxythymidylate kinase (thymidylate kinase) (DTYMK), transcript variant 1, mRNA.	166					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTCATGAGCTGGTGGAAACAC	0.582													-	242617899	G	-	242617899	7	5	118	1	0	1	0	1	0	0	0	0	4798	1357	47	0	150	0	DTYMK	2	242617899	Frame_Shift_Del	DEL	G	TCGA-12-1597-01B-01D-1495-08	1048178	242617899	581474	19	7895											
MST1R	4486	broad.mit.edu	37	3	49940449	49940449	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:49940449G>A	uc003cxy.4	-	0	858	c.594C>T	c.(592-594)taC>taT	p.Y198Y	MST1R_uc011bdc.2_Silent_p.Y198Y|MST1R_uc011bdd.2_Silent_p.Y198Y|MST1R_uc011bde.1_Silent_p.Y198Y|MST1R_uc011bdf.1_Silent_p.Y198Y|MST1R_uc011bdg.2_Silent_p.Y198Y	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	198	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGGATGCCACGTAGAAATAGG	0.632													A	49940449	G	A	49940449	2	1	118	1	0	0	0	0	0	0	0	1	9891	1140	40	1		1	MST1R	3	49940449	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08		49940449	148081981	20	7896											
FLNB	2317	broad.mit.edu	37	3	58145402	58145402	+	Missense_Mutation	SNP	A	A	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:58145402A>C	uc003djj.2	+	41	7175	c.7010A>C	c.(7009-7011)gAg>gCg	p.E2337A	FLNB_uc010hne.2_Missense_Mutation_p.E2368A|FLNB_uc003djk.2_Missense_Mutation_p.E2326A|FLNB_uc010hnf.2_Missense_Mutation_p.E2313A|FLNB_uc003djl.2_Missense_Mutation_p.E2157A|FLNB_uc003djm.2_Missense_Mutation_p.E2144A	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2337	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACGTGTCTGAGCTGGAGCCA	0.572													C	58145402	A	C	58145402	3	2	118	1	0	0	0	0	1	0	0	0	5934	304	11	5	7273	5	FLNB	3	58145402	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	8204953	58145402	139877028	21	7897											
OR5H1	26341	broad.mit.edu	37	3	97852262	97852262	+	Missense_Mutation	SNP	T	T	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:97852262T>A	uc011bgt.2	+	0	721	c.721T>A	c.(721-723)Tgt>Agt	p.C241S		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTTTTCCACCTGTGGAGCCCA	0.408													A	97852262	T	A	97852262	3	1	118	1	0	0	0	0	1	0	0	0	11159	1580	55	5	723	5	OR5H1	3	97852262	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08	39706860	97852262	100170168	22	7898											
CPZ	8532	broad.mit.edu	37	4	8605776	8605776	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr4:8605776C>T	uc003glm.3	+	3	744	c.570C>T	c.(568-570)taC>taT	p.Y190Y	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.Y179Y|CPZ_uc003gln.3_Silent_p.Y53Y	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	190					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCACTCCTACGCCCAGATGG	0.706													T	8605776	C	T	8605776	2	4	118	1	0	0	0	0	0	0	0	1	3839	547	19	1		1	CPZ	4	8605776	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08		8605776	182548500	23	7899											
WDR1	9948	broad.mit.edu	37	4	10100717	10100718	+	In_Frame_Ins	INS	-	-	TGCTCC			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr4:10100717_10100718insTGCTCC	uc021xlv.1	-	3	558_559	c.275_276insGGAGCA	c.(274-276)cac>caGGAGCAc	p.91_92insQE	WDR1_uc021xlw.1_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	91					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACTTCAACAGGTGCTCCTTCTG	0.589													TGCTCC	10100718	-	TGCTCC	10100717	7	5	118	1	0	1	1	0	0	0	0	0	17269	1252	44	0	1592	0	WDR1	4	10100717	In_Frame_Ins	INS	-	TCGA-12-1597-01B-01D-1495-08	1494941	10100717	181053559	24	7900											
HCN1	348980	broad.mit.edu	37	5	45262443	45262443	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:45262443C>T	uc003jok.3	-	7	2278	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	751	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGCGGGGACGgctgctgtg	0.637													T	45262443	C	T	45262443	2	4	118	1	0	0	0	0	0	0	0	1	6996	523	19	1		1	HCN1	5	45262443	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08		45262443	135652817	25	7901											
KCNN2	3781	broad.mit.edu	37	5	113740368	113740368	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:113740368C>T	uc003kqo.3	+	2	1273	c.816C>T	c.(814-816)gtC>gtT	p.V272V		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	272						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.V272A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TTGCCAGAGTCATGCTTTTAC	0.393													T	113740368	C	T	113740368	2	4	118	1	0	0	0	0	0	0	0	1	8079	813	29	3		3	KCNN2	5	113740368	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	68477925	113740368	67174892	26	7902											
MAT2B	27430	broad.mit.edu	37	5	162932707	162932707	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:162932707G>A	uc003lzk.3	+	0	123	c.15G>A	c.(13-15)gaG>gaA	p.E5E	MAT2B_uc003lzj.3_Intron|MAT2B_uc003lzl.1_Silent_p.E5E	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	5					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	p.M4I(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGGGGCGGGAGAAAGAGCTCT	0.706											OREG0017003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	162932707	G	A	162932707	2	1	118	1	0	0	0	0	0	0	0	1	9331	933	33	3		3	MAT2B	5	162932707	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	49192339	162932707	17982553	27	7903											
SLC17A1	6568	broad.mit.edu	37	6	25819769	25819769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:25819769G>A	uc003nfh.4	-	4	615	c.499C>T	c.(499-501)Cga>Tga	p.R167*	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.R167*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.R165*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	167					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.R167L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGTCGGCCTCGTTCCAGGGGA	0.398													A	25819769	G	A	25819769	4	1	118	1	0	0	0	0	0	1	0	0	14416	1153	40	1	936	1	SLC17A1	6	25819769	Nonsense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		25819769	145295298	28	7904											
PGBD1	84547	broad.mit.edu	37	6	28269724	28269724	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:28269724G>A	uc003nky.3	+	6	2513	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	PGBD1_uc003nkz.3_Missense_Mutation_p.C698Y	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	698					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCAGTCTGTGCTCCAATGCT	0.388													A	28269724	G	A	28269724	3	1	118	1	0	0	0	0	1	0	0	0	11780	1319	46	3	2115	3	PGBD1	6	28269724	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	2449955	28269724	142845343	29	7905											
TREML2	79865	broad.mit.edu	37	6	41166020	41166020	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:41166020G>A	uc010jxm.1	-	1	382	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	68	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGACTCGGGCAAAGCCAGG	0.572													A	41166020	G	A	41166020	3	1	118	1	0	0	0	0	1	0	0	0	16470	1203	42	3	778	3	TREML2	6	41166020	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	12896296	41166020	129949047	30	7906											
AKAP9	10142	broad.mit.edu	37	7	91674419	91674419	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:91674419C>T	uc003ulg.3	+	20	5485	c.5260C>T	c.(5260-5262)Ctt>Ttt	p.L1754F	AKAP9_uc003ulf.3_Missense_Mutation_p.L1754F|AKAP9_uc003uli.3_Missense_Mutation_p.L1379F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1766					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGCCATGTCCTTGGGATTCT	0.423			T	BRAF	papillary thyroid								T	91674419	C	T	91674419	3	4	118	1	0	0	0	0	1	0	0	0	459	681	24	3	5342	3	AKAP9	7	91674419	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		91674419	67464244	31	7907											
PPP1R3A	5506	broad.mit.edu	37	7	113519263	113519263	+	Silent	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:113519263A>G	uc010ljy.1	-	3	1915	c.1884T>C	c.(1882-1884)aaT>aaC	p.N628N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	628					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGATAATCATTCCTCAAAA	0.388													G	113519263	A	G	113519263	2	3	118	1	0	0	0	0	0	0	0	1	12371	214	8	4		4	PPP1R3A	7	113519263	Silent	SNP	A	TCGA-12-1597-01B-01D-1495-08	21844844	113519263	45619400	32	7908											
TRPV6	55503	broad.mit.edu	37	7	142573411	142573411	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:142573411G>A	uc003wbx.2	-	7	1161	c.932C>T	c.(931-933)aCg>aTg	p.T311M	TRPV6_uc003wbw.1_Missense_Mutation_p.T97M|TRPV6_uc010lou.1_Missense_Mutation_p.T182M	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	311					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.Q310E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTTCACCGGCGTCTGGTCCAG	0.592													A	142573411	G	A	142573411	3	1	118	1	0	0	0	0	1	0	0	0	16597	1145	40	1	1277	1	TRPV6	7	142573411	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	29054148	142573411	16565252	33	7909											
OR2F1	26211	broad.mit.edu	37	7	143657660	143657660	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:143657660C>T	uc003wds.1	+	0	641	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGGTCACCATCATGGTGTCTA	0.478													T	143657660	C	T	143657660	2	4	118	1	0	0	0	0	0	0	0	1	10996	816	29	3		3	OR2F1	7	143657660	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	1084249	143657660	15481003	34	7910											
CNTNAP2	26047	broad.mit.edu	37	7	146741054	146741054	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:146741054C>T	uc003weu.2	+	3	974	c.458C>T	c.(457-459)cCg>cTg	p.P153L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	153	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTACAGCATCCGATTATTGCC	0.423										HNSCC(39;0.1)			T	146741054	C	T	146741054	3	4	118	1	0	0	0	0	1	0	0	0	3647	652	23	2	472	2	CNTNAP2	7	146741054	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	3083394	146741054	12397609	35	7911											
DLC1	10395	broad.mit.edu	37	8	12946050	12946050	+	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:12946050T>C	uc003wwm.2	-	15	4682	c.4238A>G	c.(4237-4239)cAg>cGg	p.Q1413R	DLC1_uc003wwk.1_Missense_Mutation_p.Q976R|DLC1_uc003wwl.1_Missense_Mutation_p.Q1010R|DLC1_uc011kxx.1_Missense_Mutation_p.Q902R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1413	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.Y1412C(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGGACATACTGGTAAATTTC	0.423													C	12946050	T	C	12946050	3	2	118	1	0	0	0	0	1	0	0	0	4550	1580	55	4	360	4	DLC1	8	12946050	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08		12946050	133417972	36	7912											
ADAM2	2515	broad.mit.edu	37	8	39607192	39607192	+	Silent	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:39607192A>G	uc003xnj.3	-	16	1944	c.1869T>C	c.(1867-1869)gaT>gaC	p.D623D	ADAM2_uc003xnk.3_Silent_p.D604D|ADAM2_uc011lck.2_Silent_p.D560D|ADAM2_uc003xnl.3_Silent_p.D467D	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	623	EGF-like.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTACACCTCTATCATTGCATT	0.368													G	39607192	A	G	39607192	2	3	118	1	0	0	0	0	0	0	0	1	241	446	16	4		4	ADAM2	8	39607192	Silent	SNP	A	TCGA-12-1597-01B-01D-1495-08	26661142	39607192	106756830	37	7913											
TTPA	7274	broad.mit.edu	37	8	63985639	63985639	+	Silent	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:63985639T>C	uc003xux.2	-	1	245	c.213A>G	c.(211-213)aaA>aaG	p.K71K		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	71					lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TATAATAGTTTTTTAGTAACT	0.338													C	63985639	T	C	63985639	2	2	118	1	0	0	0	0	0	0	0	1	16733	1838	64	4		4	TTPA	8	63985639	Silent	SNP	T	TCGA-12-1597-01B-01D-1495-08	24378447	63985639	82378383	38	7914											
RIMS2	9699	broad.mit.edu	37	8	105263256	105263256	+	Silent	SNP	G	G	A	rs143698299	by1000genomes	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:105263256G>A	uc003yls.3	+	26	3991	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	RIMS2_uc003ylp.3_Silent_p.P1232P|RIMS2_uc003ylw.2_Silent_p.P1239P|RIMS2_uc003ylq.3_Silent_p.P1046P|RIMS2_uc003ylr.3_Silent_p.P1071P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1294					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			CCCAAGCACCGTATGTAAAAG	0.408										HNSCC(12;0.0054)			A	105263256	G	A	105263256	2	1	118	1	0	0	0	0	0	0	0	1	13368	1132	40	1		1	RIMS2	8	105263256	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	41277617	105263256	41100766	39	7915											
CPSF1	29894	broad.mit.edu	37	8	145624415	145624415	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:145624415G>A	uc003zcj.3	-	15	1556	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	494					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTCCGGCTCGGGGCTGTTCTG	0.692													A	145624415	G	A	145624415	3	1	118	1	0	0	0	0	1	0	0	0	3824	1232	43	3	2942	3	CPSF1	8	145624415	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	40361159	145624415	739607	40	7916											
PGM5	5239	broad.mit.edu	37	9	70999452	70999452	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:70999452C>A	uc004agr.3	+	2	792	c.563C>A	c.(562-564)cCa>cAa	p.P188Q		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	188					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						AAATTCAAACCATTCAGAGGT	0.378													A	70999452	C	A	70999452	3	1	118	1	0	0	0	0	1	0	0	0	11801	594	21	5	573	5	PGM5	9	70999452	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		70999452	70213979	41	7917											
WNK2	65268	broad.mit.edu	37	9	96079849	96079849	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:96079849G>A	uc004ati.1	+	28	6675	c.6675G>A	c.(6673-6675)gcG>gcA	p.A2225A	WNK2_uc011lud.1_Silent_p.A2188A|WNK2_uc004atj.3_Silent_p.A2188A|WNK2_uc004atk.3_Silent_p.A1713A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2225					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCCCCCAGCGCCCGGCCCTC	0.647													A	96079849	G	A	96079849	2	1	118	1	0	0	0	0	0	0	0	1	17375	1074	38	1		1	WNK2	9	96079849	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	25080397	96079849	45133582	42	7918											
PTEN	5728	broad.mit.edu	37	10	89717704	89717704	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr10:89717704delC	uc001kfb.3	+	6	1761	c.729delC	c.(727-729)ttcfs	p.F243fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	243	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.E242fs*15(10)|p.R55fs*1(5)|p.F243fs*9(2)|p.N212fs*1(2)|p.E242*(2)|p.Y27fs*1(2)|p.E242fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243S(1)|p.R234fs*9(1)|p.E242K(1)|p.G165_K342del(1)|p.F243fs*13(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTTTGAGTTCCCTCAGCCGT	0.423		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89717704	C	-	89717704	7	5	118	1	0	1	0	1	0	0	0	0	12738	854	30	0	755	0	PTEN	10	89717704	Frame_Shift_Del	DEL	C	TCGA-12-1597-01B-01D-1495-08		89717704	45817043	43	7919											
MRGPRE	116534	broad.mit.edu	37	11	3249597	3249597	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:3249597C>T	uc021qcj.1	-	0	430	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MRGPRE_uc001lxq.4_Missense_Mutation_p.A144T	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	144						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGTGAGGGCGCACACACAG	0.711													T	3249597	C	T	3249597	3	4	118	1	0	0	0	0	1	0	0	0	9764	768	27	1	509	1	MRGPRE	11	3249597	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		3249597	131756919	44	7920											
OR8K3	219473	broad.mit.edu	37	11	56086025	56086025	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:56086025G>A	uc010rjf.2	+	0	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GACCCAAAATGTTAGTAAATT	0.353													A	56086025	G	A	56086025	3	1	118	1	0	0	0	0	1	0	0	0	11244	1377	48	3	245	3	OR8K3	11	56086025	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	52836428	56086025	78920491	45	7921											
MAP4K2	5871	broad.mit.edu	37	11	64557670	64557670	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:64557670G>A	uc001obh.3	-	28	2330	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	MAP4K2_uc001obi.3_Silent_p.I738I	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	746	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCACAGTCTCGATGGGGAAAT	0.617													A	64557670	G	A	64557670	2	1	118	1	0	0	0	0	0	0	0	1	9260	1048	37	2		2	MAP4K2	11	64557670	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	8471645	64557670	70448846	46	7922											
FAM55D	54827	broad.mit.edu	37	11	114453106	114453106	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:114453106C>A	uc001ppc.3	-	2	915	c.734G>T	c.(733-735)aGg>aTg	p.R245M	FAM55D_uc001ppd.3_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	245						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GTGTTGAGGCCTCACACAGTA	0.438													A	114453106	C	A	114453106	3	1	118	1	0	0	0	0	1	0	0	0	5587	681	24	5	916	5	FAM55D	11	114453106	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	49895436	114453106	20553410	47	7923											
KRT4	3851	broad.mit.edu	37	12	53207484	53207484	+	Missense_Mutation	SNP	G	G	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:53207484G>T	uc001saz.3	-	0	581	c.581C>A	c.(580-582)aCc>aAc	p.T194N		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	120						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTGGAGGGGGGTGAGCAAGCT	0.587													T	53207484	G	T	53207484	3	4	118	1	0	0	0	0	1	0	0	0	8477	1261	44	5	1239	5	KRT4	12	53207484	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		53207484	80644411	48	7924											
OR6C1	390321	broad.mit.edu	37	12	55714593	55714593	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:55714593G>A	uc010spi.2	+	0	210	c.210G>A	c.(208-210)tcG>tcA	p.S70S		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TAGAAATTTCGTTCACAACCG	0.383													A	55714593	G	A	55714593	2	1	118	1	0	0	0	0	0	0	0	1	11190	1132	40	1		1	OR6C1	12	55714593	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	2507109	55714593	78137302	49	7925											
PAH	5053	broad.mit.edu	37	12	103246614	103246614	+	Missense_Mutation	SNP	T	T	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:103246614T>A	uc001tjq.1	-	6	1294	c.821A>T	c.(820-822)aAg>aTg	p.K274M		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	274			K -> E.		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ATACATGGGCTTGGATCCATG	0.562													A	103246614	T	A	103246614	3	1	118	1	0	0	0	0	1	0	0	0	11394	1609	56	5	565	5	PAH	12	103246614	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08	47532021	103246614	30605281	50	7926											
EXOSC8	11340	broad.mit.edu	37	13	37580266	37580266	+	Missense_Mutation	SNP	A	A	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr13:37580266A>C	uc001uwa.3	+	6	624	c.359A>C	c.(358-360)cAg>cCg	p.Q120P	EXOSC8_uc001uvz.2_Non-coding_Transcript	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	Homo sapiens exosome component 8 (EXOSC8), mRNA.	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CAGATAATTCAGAAAGAGGAC	0.318													C	37580266	A	C	37580266	3	2	118	1	0	0	0	0	1	0	0	0	5320	188	7	5	385	5	EXOSC8	13	37580266	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08		37580266	77589612	51	7927											
FANCM	57697	broad.mit.edu	37	14	45605251	45605251	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:45605251G>A	uc001wwd.4	+	0	116	c.17G>A	c.(16-18)aGa>aAa	p.R6K	FANCM_uc001wwc.2_Missense_Mutation_p.R6K|FANCM_uc010anf.3_Missense_Mutation_p.R6K|FKBP3_uc010tqf.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	6					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			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						GGACGGCAAAGAACGCTTTTT	0.582								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	45605251	G	A	45605251	3	1	118	1	0	0	0	0	1	0	0	0	5671	942	33	3	19	3	FANCM	14	45605251	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		45605251	61744289	52	7928											
NAA30	122830	broad.mit.edu	37	14	57858239	57858239	+	Silent	SNP	T	T	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:57858239T>G	uc001xcx.4	+	1	718	c.564T>G	c.(562-564)tcT>tcG	p.S188S	NAA30_uc010trk.2_Intron|NAA30_uc010aow.3_Intron	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA.	188						cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GGCTGCTGTCTTCGTCCCTGA	0.657													G	57858239	T	G	57858239	2	3	118	1	0	0	0	0	0	0	0	1	10122	1596	56	5		5	NAA30	14	57858239	Silent	SNP	T	TCGA-12-1597-01B-01D-1495-08	12252988	57858239	49491301	53	7929											
TSHR	7253	broad.mit.edu	37	14	81610003	81610003	+	Missense_Mutation	SNP	G	G	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:81610003G>T	uc001xvd.1	+	9	1757	c.1601G>T	c.(1600-1602)cGc>cTc	p.R534L		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	534					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGGAAGATCCGCCTCAGGCAC	0.562			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						T	81610003	G	T	81610003	3	4	118	1	0	0	0	0	1	0	0	0	16619	1087	38	5	1776	5	TSHR	14	81610003	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	23751764	81610003	25739537	54	7930											
IFI27	3429	broad.mit.edu	37	14	94582172	94582172	+	Silent	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:94582172C>G	uc021sba.1	+	3	290	c.167C>G	c.(166-168)gCg>gGg	p.A56G	IFI27_uc001ycn.1_Non-coding_Transcript	NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	56					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TTCACTGCGGCGGGAATCGCC	0.642													G	94582172	C	G	94582172	2	3	118	1	0	0	0	0	0	0	0	1	7512	768	27	5		5	IFI27	14	94582172	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	12972169	94582172	12767368	55	7931											
MGA	23269	broad.mit.edu	37	15	42032290	42032290	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr15:42032290C>T	uc010ucy.2	+	13	4655	c.4474C>T	c.(4474-4476)Cgt>Tgt	p.R1492C	MGA_uc010ucz.2_Missense_Mutation_p.R1492C|MGA_uc010uda.1_Missense_Mutation_p.R108C	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1492						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGGAAACCACGTACCCTGTT	0.532													T	42032290	C	T	42032290	3	4	118	1	0	0	0	0	1	0	0	0	9540	536	19	1	4524	1	MGA	15	42032290	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		42032290	60499102	56	7932											
LRRK1	79705	broad.mit.edu	37	15	101592102	101592102	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr15:101592102C>T	uc002bwr.3	+	23	3945	c.3626C>T	c.(3625-3627)cCg>cTg	p.P1209L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1209					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAGACACCCGGACCTCCCC	0.617													T	101592102	C	T	101592102	3	4	118	1	0	0	0	0	1	0	0	0	9032	652	23	2	3716	2	LRRK1	15	101592102	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	59559812	101592102	939290	57	7933											
SALL1	6299	broad.mit.edu	37	16	51171034	51171034	+	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:51171034C>G	uc021tif.1	-	2	3995	c.3673G>C	c.(3673-3675)Gtc>Ctc	p.V1225L	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.V174L	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1322					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1225L(1)|p.S1225S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TAACTCGTGACGATCTCCTTG	0.592													G	51171034	C	G	51171034	3	3	118	1	0	0	0	0	1	0	0	0	13810	536	19	5	14	5	SALL1	16	51171034	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		51171034	39183719	58	7934											
GNAO1	2775	broad.mit.edu	37	16	56374784	56374784	+	Missense_Mutation	SNP	C	C	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:56374784C>G	uc002eit.4	+	6	1659	c.762C>G	c.(760-762)atC>atG	p.I254M	GNAO1_uc002eiu.4_Intron	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	254					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTGACAGCATCTGCAACAACA	0.527													G	56374784	C	G	56374784	3	3	118	1	0	0	0	0	1	0	0	0	6508	903	32	5	788	5	GNAO1	16	56374784	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	5203750	56374784	33979969	59	7935											
PMFBP1	83449	broad.mit.edu	37	16	72158703	72158703	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:72158703G>A	uc002fcc.4	-	16	2739	c.2567C>T	c.(2566-2568)gCc>gTc	p.A856V	PMFBP1_uc002fcd.3_Missense_Mutation_p.A851V|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A706V|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147V	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	856								p.E855*(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTTAAGGCGGCCATCTCCTC	0.572											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	72158703	G	A	72158703	3	1	118	1	0	0	0	0	1	0	0	0	12134	1203	42	3	551	3	PMFBP1	16	72158703	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	15783919	72158703	18196050	60	7936											
GAN	8139	broad.mit.edu	37	16	81390535	81390535	+	Missense_Mutation	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:81390535A>G	uc002fgo.3	+	3	927	c.779A>G	c.(778-780)gAg>gGg	p.E260G		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	260					cell death	cytoplasm|neurofilament	protein binding	p.G259G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CAGCAAGGGGAGGCGATGCTG	0.493													G	81390535	A	G	81390535	3	3	118	1	0	0	0	0	1	0	0	0	6232	304	11	4	793	4	GAN	16	81390535	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	9231832	81390535	8964218	61	7937											
FBXO31	79791	broad.mit.edu	37	16	87367838	87367838	+	Missense_Mutation	SNP	G	G	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:87367838G>C	uc002fjw.3	-	7	1095	c.1051C>G	c.(1051-1053)Cgg>Ggg	p.R351G	FBXO31_uc010vot.2_Missense_Mutation_p.R179G|FBXO31_uc002fjv.3_Missense_Mutation_p.R243G	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	351					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.R351W(1)|p.R179W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTGGATCCGATGCCTCAGG	0.657													C	87367838	G	C	87367838	3	2	118	1	0	0	0	0	1	0	0	0	5741	1057	37	5	576	5	FBXO31	16	87367838	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	5977303	87367838	2986915	62	7938											
BCL6B	255877	broad.mit.edu	37	17	6929925	6929925	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:6929925C>T	uc010clt.1	+	5	1101	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	BCL6B_uc002geg.2_Missense_Mutation_p.R347C	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	347						nucleus	zinc ion binding			skin(1)	1						TGCCAGTCATCGTACAGTGCA	0.582													T	6929925	C	T	6929925	3	4	118	1	0	0	0	0	1	0	0	0	1377	884	31	2	1057	2	BCL6B	17	6929925	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		6929925	74265285	63	7939											
MAP2K3	5606	broad.mit.edu	37	17	21208414	21208414	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21208414G>A	uc002gys.3	+	8	1013	c.748G>A	c.(748-750)Gac>Aac	p.D250N	MAP2K3_uc002gyt.3_Missense_Mutation_p.D221N|MAP2K3_uc021tsq.1_Missense_Mutation_p.D221N|MAP2K3_uc021tsr.1_Missense_Mutation_p.D221N	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	250	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGTCAAGTCCGACGTCTGGAG	0.647													A	21208414	G	A	21208414	3	1	118	1	0	0	0	0	1	0	0	0	9238	1058	37	2	782	2	MAP2K3	17	21208414	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	14278489	21208414	59986796	64	7940											
UBC	7316	broad.mit.edu	37	17	21731067	21731067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21731067delC	uc002gyy.3	+	1	494	c.369delC	c.(367-369)ggcfs	p.G123fs				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	275	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.A122V(1)|p.G123A(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTTTGCAGGCAAGCAGCTGG	0.542													-	21731067	C	-	21731067	7	5	118	1	0	1	0	1	0	0	0	0	16839	725	25	0		0	UBC	17	21731067	Frame_Shift_Del	DEL	C	TCGA-12-1597-01B-01D-1495-08	522653	21731067	59464143	65	7941											
LGALS9	3965	broad.mit.edu	37	17	25974373	25974373	+	Missense_Mutation	SNP	G	G	A	rs149003631		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:25974373G>A	uc002gzp.3	+	9	954	c.836G>A	c.(835-837)cGc>cAc	p.R279H	LGALS9_uc002gzq.3_Missense_Mutation_p.R247H|LGALS9_uc002gzr.3_Missense_Mutation_p.R190H|LGALS9_uc010waa.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	279	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTGTGGTCCGCAACACCCAG	0.587													A	25974373	G	A	25974373	3	1	118	1	0	0	0	0	1	0	0	0	8748	1087	38	1	874	1	LGALS9	17	25974373	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	4243306	25974373	55220837	66	7942											
SSH2	85464	broad.mit.edu	37	17	27977712	27977712	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:27977712C>A	uc002heo.1	-	11	1105	c.1105G>T	c.(1105-1107)Gcg>Tcg	p.A369S	SSH2_uc010wbh.1_Missense_Mutation_p.A396S|SSH2_uc002hep.1_Missense_Mutation_p.A369S	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	369	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCAGTACGCCAGGAGATCC	0.428													A	27977712	C	A	27977712	3	1	118	1	0	0	0	0	1	0	0	0	15184	739	26	5	3182	5	SSH2	17	27977712	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	2003339	27977712	53217498	67	7943											
BPTF	2186	broad.mit.edu	37	17	65889772	65889775	+	Frame_Shift_Del	DEL	GACT	GACT	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:65889772_65889775delGACT	uc002jgf.3	+	5	2403_2406	c.2342_2345delGACT	c.(2341-2346)agactgfs	p.R781fs	BPTF_uc002jge.3_Frame_Shift_Del_p.R907fs|BPTF_uc010wqm.1_Frame_Shift_Del_p.R844fs	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	907					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTACTCTGAGACTGACTATCACC	0.412													-	65889775	GACT	-	65889772	7	5	118	1	0	1	0	1	0	0	0	0	1495	942	33	0	2750	0	BPTF	17	65889772	Frame_Shift_Del	DEL	GACT	TCGA-12-1597-01B-01D-1495-08	37912060	65889772	15305438	68	7944											
RNF157	114804	broad.mit.edu	37	17	74157723	74157723	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:74157723G>A	uc002jqz.3	-	10	1027	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	RNF157_uc002jra.3_Missense_Mutation_p.R320W	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	320							zinc ion binding			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)			AGCAGTGCCCGGAAGGCTGTG	0.507													A	74157723	G	A	74157723	3	1	118	1	0	0	0	0	1	0	0	0	13454	1115	39	2	1117	2	RNF157	17	74157723	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	8267951	74157723	7037487	69	7945											
SMAD7	4092	broad.mit.edu	37	18	46447857	46447857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr18:46447857delG	uc002ldg.3	-	3	1453	c.1166delC	c.(1165-1167)ccgfs	p.P389fs	SMAD7_uc002ldf.3_Frame_Shift_Del_p.P201fs|SMAD7_uc010xde.2_Frame_Shift_Del_p.P174fs|SMAD7_uc021ujr.1_Frame_Shift_Del_p.P388fs	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	389	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GCCCGTCCACGGCTGCTGCAT	0.582													-	46447857	G	-	46447857	7	5	118	1	0	1	0	1	0	0	0	0	14763	1116	39	0	118	0	SMAD7	18	46447857	Frame_Shift_Del	DEL	G	TCGA-12-1597-01B-01D-1495-08		46447857	31629391	70	7946											
LMAN1	3998	broad.mit.edu	37	18	57022568	57022568	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr18:57022568C>A	uc002lhz.3	-	2	486	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	LMAN1_uc010xek.1_Missense_Mutation_p.D152Y	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	152	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCAAAAGAATCAAAAAATATT	0.353													A	57022568	C	A	57022568	3	1	118	1	0	0	0	0	1	0	0	0	8836	826	29	5	1122	5	LMAN1	18	57022568	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	10574711	57022568	21054680	71	7947											
LSR	51599	broad.mit.edu	37	19	35741541	35741541	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr19:35741541C>T	uc002nyl.3	+	1	800	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	LSR_uc010xsr.2_Missense_Mutation_p.R193W|LSR_uc002nym.3_Missense_Mutation_p.R193W|LSR_uc002nyn.3_Missense_Mutation_p.R193W|LSR_uc002nyo.3_Missense_Mutation_p.R193W|LSR_uc002nyp.3_Missense_Mutation_p.R156W	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	193	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTACCAGGGCCGGAGGATTAC	0.642													T	35741541	C	T	35741541	3	4	118	1	0	0	0	0	1	0	0	0	9064	643	23	2	583	2	LSR	19	35741541	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		35741541	23387442	72	7948											
ATP4A	495	broad.mit.edu	37	19	36046636	36046636	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr19:36046636C>T	uc002oal.1	-	12	1977	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	650					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCCACTGTCTCGCTGCCTTCC	0.622													T	36046636	C	T	36046636	3	4	118	1	0	0	0	0	1	0	0	0	1145	893	31	2	1199	2	ATP4A	19	36046636	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	305095	36046636	23082347	73	7949											
PTGIS	5740	broad.mit.edu	37	20	48140704	48140704	+	Missense_Mutation	SNP	C	C	T	rs45571835		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:48140704C>T	uc002xut.3	-	5	800	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	PTGIS_uc010zyi.2_Missense_Mutation_p.R110Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	249					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CCGGTGGGCCCGCCTGGCCAG	0.627													T	48140704	C	T	48140704	3	4	118	1	0	0	0	0	1	0	0	0	12752	652	23	2	776	2	PTGIS	20	48140704	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		48140704	14884816	74	7950											
ATP9A	10079	broad.mit.edu	37	20	50225158	50225158	+	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:50225158T>C	uc002xwg.1	-	24	2644	c.2644A>G	c.(2644-2646)Aca>Gca	p.T882A	ATP9A_uc010gih.1_Missense_Mutation_p.T746A|ATP9A_uc002xwf.1_Missense_Mutation_p.T54A	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	882					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGTAAATTGTGGAGTACCTG	0.507													C	50225158	T	C	50225158	3	2	118	1	0	0	0	0	1	0	0	0	1198	1696	59	4	515	4	ATP9A	20	50225158	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08	2084454	50225158	12800362	75	7951											
C20orf20	55257	broad.mit.edu	37	20	61430922	61430922	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:61430922G>A	uc002ydi.3	+	4	613	c.542G>A	c.(541-543)cGg>cAg	p.R181Q		NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN	Homo sapiens chromosome 20 open reading frame 20 (C20orf20), mRNA.	181					chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex		p.R181W(2)|p.S180S(1)		endometrium(1)|lung(5)|skin(2)|urinary_tract(3)	11	Breast(26;3.65e-08)					AAGCGCAGCCGGGTCACCGAC	0.582													A	61430922	G	A	61430922	3	1	118	1	0	0	0	0	1	0	0	0	2103	1116	39	2	560	2	C20orf20	20	61430922	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	11205764	61430922	1594598	76	7952											
KRTAP10-8	386681	broad.mit.edu	37	21	46032293	46032293	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr21:46032293C>T	uc002zfo.1	+	0	298	c.276C>T	c.(274-276)gaC>gaT	p.D92D	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	92	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCACCGACTCCTGCACAC	0.662													T	46032293	C	T	46032293	2	4	118	1	0	0	0	0	0	0	0	1	8515	564	20	3		3	KRTAP10-8	21	46032293	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08		46032293	2097602	77	7953											
IL17RA	23765	broad.mit.edu	37	22	17589233	17589233	+	Missense_Mutation	SNP	T	T	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:17589233T>C	uc002zly.3	+	12	1255	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	375					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCCCACCGCTGAAGCCCAGG	0.637													C	17589233	T	C	17589233	3	2	118	1	0	0	0	0	1	0	0	0	7639	1580	55	4	1174	4	IL17RA	22	17589233	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08		17589233	33715333	78	7954											
APOBEC3B	200315	broad.mit.edu	37	22	39355652	39355652	+	Silent	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:39355652G>A	uc003awn.2	+	1	305	c.135G>A	c.(133-135)tcG>tcA	p.S45S	APOBEC3B_uc011aob.1_Silent_p.S27S|APOBEC3B_uc011aoc.1_Silent_p.S45S	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.	228					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ATGGCACCTCGGTCAAGATGG	0.532													A	39355652	G	A	39355652	2	1	118	1	0	0	0	0	0	0	0	1	790	1103	39	2		2	APOBEC3B	22	39355652	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	21766419	39355652	11948914	79	7955											
MCAT	27349	broad.mit.edu	37	22	43538975	43538975	+	Missense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:43538975G>A	uc003bdl.1	-	0	429	c.380C>T	c.(379-381)gCa>gTa	p.A127V	MCAT_uc003bdm.1_Missense_Mutation_p.A127V	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GGCCAGCGATGCCACGAAGAT	0.682													A	43538975	G	A	43538975	3	1	118	1	0	0	0	0	1	0	0	0	9372	1319	46	3	808	3	MCAT	22	43538975	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	4183323	43538975	7765591	80	7956											
CXorf59	286464	broad.mit.edu	37	X	36103466	36103466	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:36103466C>T	uc004ddk.1	+	4	638	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	151						integral to membrane		p.S151S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TCATCAACCTCGCCACCCCAA	0.338													T	36103466	C	T	36103466	3	4	118	1	0	0	0	0	1	0	0	0	4115	893	31	2	466	2	CXorf59	23	36103466	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		36103466	119167094	81	7957											
FAM47C	442444	broad.mit.edu	37	X	37028621	37028621	+	Missense_Mutation	SNP	G	G	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:37028621G>T	uc004ddl.2	+	0	2190	c.2138G>T	c.(2137-2139)aGt>aTt	p.S713I		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	713										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						CGGGTGTCCAGTCTCCACGCG	0.647													T	37028621	G	T	37028621	3	4	118	1	0	0	0	0	1	0	0	0	5571	1029	36	5	2140	5	FAM47C	23	37028621	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	925155	37028621	118241939	82	7958											
DGKK	139189	broad.mit.edu	37	X	50146548	50146548	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:50146548C>A	uc010njr.2	-	5	1170	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	376					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.D172N(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACTTGCAGTCTTTGCTTGCT	0.458													A	50146548	C	A	50146548	3	1	118	1	0	0	0	0	1	0	0	0	4472	913	32	5	2780	5	DGKK	23	50146548	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	13117927	50146548	105124012	83	7959											
MED12	9968	broad.mit.edu	37	X	70342412	70342412	+	Missense_Mutation	SNP	G	G	C			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:70342412G>C	uc004dyy.3	+	8	1502	c.1303G>C	c.(1303-1305)Gtt>Ctt	p.V435L	MED12_uc011mpq.1_Missense_Mutation_p.V435L|MED12_uc004dyz.3_Missense_Mutation_p.V435L|MED12_uc004dza.3_Missense_Mutation_p.V282L|MED12_uc022byq.1_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	435					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGACAGGCAGTTGAAGTTCG	0.468			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						C	70342412	G	C	70342412	3	2	118	1	0	0	0	0	1	0	0	0	9428	1029	36	5	1337	5	MED12	23	70342412	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	20195864	70342412	84928148	84	7960											
FGF16	8823	broad.mit.edu	37	X	76711875	76711875	+	Silent	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:76711875C>T	uc011mqp.2	+	1	213	c.213C>T	c.(211-213)taC>taT	p.Y71Y		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	162					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						GACAGTATTACGTGGCCCTGA	0.463													T	76711875	C	T	76711875	2	4	118	1	0	0	0	0	0	0	0	1	5844	547	19	1		1	FGF16	23	76711875	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	6369463	76711875	78558685	85	7961											
ATP7A	538	broad.mit.edu	37	X	77264612	77264612	+	Missense_Mutation	SNP	C	C	T			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:77264612C>T	uc004ecx.4	+	6	1881	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	ATP7A_uc004ecw.2_Missense_Mutation_p.T574M	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	574	HMA 6.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.T574M(3)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGGGGAATGACGTGTGCCTCC	0.388													T	77264612	C	T	77264612	3	4	118	1	0	0	0	0	1	0	0	0	1190	536	19	1	1743	1	ATP7A	23	77264612	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	552737	77264612	78005948	86	7962											
TAF7L	54457	broad.mit.edu	37	X	100531023	100531023	+	Missense_Mutation	SNP	C	C	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:100531023C>A	uc004ehb.3	-	10	1275	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y	TAF7L_uc004eha.3_Missense_Mutation_p.D257Y|TAF7L_uc004ehc.2_Missense_Mutation_p.D331Y	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	417					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATGATGAGATCCTTCTGTCTT	0.353													A	100531023	C	A	100531023	3	1	118	1	0	0	0	0	1	0	0	0	15530	855	30	5	151	5	TAF7L	23	100531023	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	23266411	100531023	54739537	87	7963											
SRPK3	26576	broad.mit.edu	37	X	153050273	153050273	+	Silent	SNP	A	A	G			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:153050273A>G	uc004fik.3	+	17	3940	c.1515A>G	c.(1513-1515)gaA>gaG	p.E505E	SRPK3_uc004fim.3_Silent_p.E405E|SRPK3_uc004fil.3_Silent_p.E439E|SRPK3_uc004fin.3_Silent_p.E438E|SRPK3_uc010nul.3_Silent_p.E363E	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	439	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					TCGGCGCCGAATACGGCCCCC	0.692													G	153050273	A	G	153050273	2	3	118	1	0	0	0	0	0	0	0	1	15160	98	4	4		4	SRPK3	23	153050273	Silent	SNP	A	TCGA-12-1597-01B-01D-1495-08	52519250	153050273	2220287	88	7964											
MTCP1	4515	broad.mit.edu	37	X	154294043	154294043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:154294043G>A	uc004fmz.2	-	2	753	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MTCP1NB_uc004fmy.3_Intron	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN	Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA.	43					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCTGGACTCGTGCCCTTAGG	0.458			T	TRA@	T cell prolymphocytic leukemia								A	154294043	G	A	154294043	4	1	118	1	0	0	0	0	0	1	0	0	9915	1153	40	1	204	1	MTCP1	23	154294043	Nonsense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	1243770	154294043	976517	89	7965											
EPHA10	284656	broad.mit.edu	37	1	38227382	38227382	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:38227382G>A	uc009vvi.3	-	2	631	c.545C>T	c.(544-546)cCg>cTg	p.P182L	EPHA10_uc001cbw.4_Missense_Mutation_p.P182L	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	182						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.P182P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGGCTGAGCGGTCCGATCTC	0.657													A	38227382	G	A	38227382	3	1	119	1	0	0	0	0	1	0	0	0	5166	1116	39	2	2579	2	EPHA10	1	38227382	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		38227382	211023239	1	7966											
SLC2A1	6513	broad.mit.edu	37	1	43396302	43396302	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:43396302C>T	uc001cik.2	-	3	1036	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	171					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTTACCTGGGCGATGAGGATG	0.642													T	43396302	C	T	43396302	3	4	119	1	0	0	0	0	1	0	0	0	14538	768	27	1	995	1	SLC2A1	1	43396302	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	5168920	43396302	205854319	2	7967											
KLF17	128209	broad.mit.edu	37	1	44595024	44595024	+	Splice_Site	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:44595024G>A	uc001clp.3	+	2	140	c.82_splice	c.e2-1	p.D28_splice	KLF17_uc009vxf.1_Splice_Site	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	28					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TTTTCCCCAAGGATAACGAGA	0.483													A	44595024	G	A	44595024	5	1	119	1	0	0	0	0	0	0	1	0	8345	1014	35	3	87	3	KLF17	1	44595024	Splice_Site	SNP	G	TCGA-12-3649-01A-01D-1495-08	1198722	44595024	204655597	3	7968											
EPHX4	253152	broad.mit.edu	37	1	92495767	92495767	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:92495767G>A	uc001don.2	+	0	235	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	44						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGAGCCTCGGCAAGGGGCCG	0.677													A	92495767	G	A	92495767	3	1	119	1	0	0	0	0	1	0	0	0	5182	1203	42	3	133	3	EPHX4	1	92495767	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	47900743	92495767	156754854	4	7969											
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			A	115256529	T	A	115256529	3	1	119	1	0	0	0	0	1	0	0	0	10640	1812	63	5	399	5	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	22760762	115256529	133994092	5	7970											
NBPF10	100132406	broad.mit.edu	37	1	145367751	145367751	+	Silent	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:145367751A>T	uc021oul.1	+	82	10382	c.10347A>T	c.(10345-10347)ggA>ggT	p.G3449G	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3449										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)		aaagaaggggaagaagatcaa	0.413													T	145367751	A	T	145367751	2	4	119	1	0	0	0	0	0	0	0	1	10193	233	9	5		5	NBPF10	1	145367751	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	30111222	145367751	103882870	6	7971											
OR6K2	81448	broad.mit.edu	37	1	158669760	158669760	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:158669760C>T	uc001fsu.1	-	0	683	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGAATGAATACGTAGAATTAC	0.453													T	158669760	C	T	158669760	3	4	119	1	0	0	0	0	1	0	0	0	11202	536	19	1	295	1	OR6K2	1	158669760	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	13302009	158669760	90580861	7	7972											
GPR161	23432	broad.mit.edu	37	1	168066138	168066138	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:168066138C>G	uc010pln.2	-	3	1301	c.767G>C	c.(766-768)aGg>aCg	p.R256T	GPR161_uc001gfb.3_Missense_Mutation_p.R104T|GPR161_uc001gfc.3_Missense_Mutation_p.R236T|GPR161_uc010pll.2_Missense_Mutation_p.R146T|GPR161_uc010plm.2_Missense_Mutation_p.R122T|GPR161_uc009wvo.3_Missense_Mutation_p.R253T|GPR161_uc001gfd.3_Missense_Mutation_p.R236T|GPR161_uc001gfe.1_Missense_Mutation_p.R236T	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	236					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCTCCCGGTCCTCTGAGCATC	0.597													G	168066138	C	G	168066138	3	3	119	1	0	0	0	0	1	0	0	0	6665	681	24	5	898	5	GPR161	1	168066138	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	9396378	168066138	81184483	8	7973											
CR2	1380	broad.mit.edu	37	1	207644110	207644110	+	Silent	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:207644110C>A	uc001hfw.3	+	6	1370	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L	CR2_uc001hfv.3_Silent_p.L417L|CR2_uc009xch.3_Silent_p.L417L|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	417	Sushi 7.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAACATCCTCAATGGGCAAA	0.418													A	207644110	C	A	207644110	2	1	119	1	0	0	0	0	0	0	0	1	3842	813	29	5		5	CR2	1	207644110	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	39577972	207644110	41606511	9	7974											
LYST	1130	broad.mit.edu	37	1	235866229	235866229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:235866229G>A	uc001hxj.2	-	44	10367	c.10192C>T	c.(10192-10194)Cga>Tga	p.R3398*	LYST_uc001hxi.2_Nonsense_Mutation_p.R622*	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3398	BEACH.				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			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)			TCTAGCGCTCGTCTCTGAACT	0.453													A	235866229	G	A	235866229	4	1	119	1	0	0	0	0	0	1	0	0	9128	1153	40	1	1249	1	LYST	1	235866229	Nonsense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	28222119	235866229	13384392	10	7975											
RYR2	6262	broad.mit.edu	37	1	237777418	237777418	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:237777418G>A	uc001hyl.1	+	36	5110	c.4990G>A	c.(4990-4992)Gtc>Atc	p.V1664I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1664	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.V1662L(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)			CTACTCAGCCGTCTGTGCTCT	0.517													A	237777418	G	A	237777418	3	1	119	1	0	0	0	0	1	0	0	0	13769	1145	40	1	5136	1	RYR2	1	237777418	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	1911189	237777418	11473203	11	7976											
RYR2	6262	broad.mit.edu	37	1	237995876	237995876	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:237995876C>G	uc001hyl.1	+	104	14953	c.14833C>G	c.(14833-14835)Caa>Gaa	p.Q4945E	RYR2_uc010pyb.1_3'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4945					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.R4945S(2)		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)			GAAGATGTATCAAGAAAGGTG	0.383													G	237995876	C	G	237995876	3	3	119	1	0	0	0	0	1	0	0	0	13769	827	29	5	15251	5	RYR2	1	237995876	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	218458	237995876	11254745	12	7977											
GRHL1	29841	broad.mit.edu	37	2	10102621	10102621	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:10102621G>A	uc002raa.3	+	4	878	c.707G>A	c.(706-708)gGc>gAc	p.G236D	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Intron|GRHL1_uc010yjb.2_Missense_Mutation_p.G85D	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	236					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGGATGCCTGGCATGAATTCA	0.358													A	10102621	G	A	10102621	3	1	119	1	0	0	0	0	1	0	0	0	6763	1203	42	3	725	3	GRHL1	2	10102621	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		10102621	233096752	13	7978											
CCDC85A	114800	broad.mit.edu	37	2	56420095	56420095	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:56420095G>A	uc002rzn.3	+	1	1262	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	254	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCACAGGAGCGCCAGCCCCGA	0.657													A	56420095	G	A	56420095	3	1	119	1	0	0	0	0	1	0	0	0	2859	1087	38	1	766	1	CCDC85A	2	56420095	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	46317474	56420095	186779278	14	7979											
SULT1C3	442038	broad.mit.edu	37	2	108872031	108872031	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:108872031G>T	uc010ywo.2	+	3	403	c.403G>T	c.(403-405)Gtc>Ttc	p.V135F		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	135						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATTTCAGATTGTCTATGTGGC	0.413													T	108872031	G	T	108872031	3	4	119	1	0	0	0	0	1	0	0	0	15375	1377	48	5	417	5	SULT1C3	2	108872031	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	52451936	108872031	134327342	15	7980											
SLC4A10	57282	broad.mit.edu	37	2	162813661	162813661	+	Nonsense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:162813661A>T	uc002ubx.4	+	19	2888	c.2704A>T	c.(2704-2706)Aaa>Taa	p.K902*	SLC4A10_uc010zcs.2_Nonsense_Mutation_p.K883*|SLC4A10_uc002uby.4_Nonsense_Mutation_p.K872*	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	902					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.K901K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAACAACCCAAATTTCTCGG	0.448													T	162813661	A	T	162813661	4	4	119	1	0	0	0	0	0	1	0	0	14651	131	5	5	2867	5	SLC4A10	2	162813661	Nonsense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	53941630	162813661	80385712	16	7981											
SCN9A	6335	broad.mit.edu	37	2	167141278	167141278	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:167141278A>T	uc010fpl.3	-	11	2000	c.1659T>A	c.(1657-1659)agT>agA	p.S553R	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S424R|SCN9A_uc002uds.1_Missense_Mutation_p.S424R|SCN9A_uc002udt.1_Missense_Mutation_p.S424R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	553						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACTAAAAAGACTTGTTCTGC	0.443													T	167141278	A	T	167141278	3	4	119	1	0	0	0	0	1	0	0	0	13925	272	10	5	4338	5	SCN9A	2	167141278	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	4327617	167141278	76058095	17	7982											
TTN	7273	broad.mit.edu	37	2	179456812	179456812	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:179456812T>A	uc021vsy.1	-	250	52340	c.52115A>T	c.(52114-52116)cAt>cTt	p.H17372L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H11067L|TTN_uc021vta.1_Missense_Mutation_p.H11000L|TTN_uc021vtb.1_Missense_Mutation_p.H10875L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18299	Fibronectin type-III 26.						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)			TTCATTCAGATGCTTAGCGAA	0.463													A	179456812	T	A	179456812	3	1	119	1	0	0	0	0	1	0	0	0	16732	1464	51	5	48404	5	TTN	2	179456812	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	12315534	179456812	63742561	18	7983											
SLC4A7	9497	broad.mit.edu	37	3	27431585	27431585	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:27431585C>T	uc011aww.2	-	21	3418	c.3197G>A	c.(3196-3198)cGt>cAt	p.R1066H	SLC4A7_uc011awx.2_Missense_Mutation_p.R1053H|SLC4A7_uc021wun.1_Missense_Mutation_p.R942H|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.R1049H|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.R938H|SLC4A7_uc011axb.2_Missense_Mutation_p.R1053H|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.R938H|SLC4A7_uc010hfl.3_Missense_Mutation_p.R607H|SLC4A7_uc003cdv.3_Missense_Mutation_p.R1057H|SLC4A7_uc003cdw.3_Missense_Mutation_p.R933H	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1057						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TAATTTTATACGGTCAAATAA	0.328													T	27431585	C	T	27431585	3	4	119	1	0	0	0	0	1	0	0	0	14658	536	19	1	490	1	SLC4A7	3	27431585	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		27431585	170590845	19	7984											
MST1R	4486	broad.mit.edu	37	3	49939965	49939965	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:49939965C>T	uc003cxy.4	-	0	1342	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	MST1R_uc011bdc.2_Missense_Mutation_p.V360M|MST1R_uc011bdd.2_Missense_Mutation_p.V360M|MST1R_uc011bde.1_Missense_Mutation_p.V360M|MST1R_uc011bdf.1_Missense_Mutation_p.V360M|MST1R_uc011bdg.2_Missense_Mutation_p.V360M	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	360	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTGGGGCCCACGCCAGGACCA	0.587													T	49939965	C	T	49939965	3	4	119	1	0	0	0	0	1	0	0	0	9891	536	19	1	3204	1	MST1R	3	49939965	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	22508380	49939965	148082465	20	7985											
ITIH1	3697	broad.mit.edu	37	3	52816072	52816072	+	Silent	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:52816072C>T	uc003dfs.3	+	6	834	c.804C>T	c.(802-804)tgC>tgT	p.C268C	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.C126C|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	268					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACAAGATCTGCGACCTCCTGG	0.587													T	52816072	C	T	52816072	2	4	119	1	0	0	0	0	0	0	0	1	7903	776	27	1		1	ITIH1	3	52816072	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	2876107	52816072	145206358	21	7986											
SORCS2	57537	broad.mit.edu	37	4	7666134	7666134	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:7666134C>T	uc003gkb.4	+	6	1007	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	SORCS2_uc011bwi.2_Missense_Mutation_p.A164V	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	336						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGCTGACAGCCCCATTCGCA	0.557													T	7666134	C	T	7666134	3	4	119	1	0	0	0	0	1	0	0	0	14931	739	26	3	1033	3	SORCS2	4	7666134	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		7666134	183488142	22	7987											
GC	2638	broad.mit.edu	37	4	72618353	72618353	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:72618353A>G	uc010iif.3	-	11	1429	c.1334T>C	c.(1333-1335)cTa>cCa	p.L445P	GC_uc003hge.3_Missense_Mutation_p.L426P|GC_uc021xpb.1_Missense_Mutation_p.L426P	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	426	Albumin 3.		R -> C (in allele GC*2A9).|R -> H (in allele GC*1A1; dbSNP:rs9016).		hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTTGCTTTTAGTCGCTCTGC	0.388													G	72618353	A	G	72618353	3	3	119	1	0	0	0	0	1	0	0	0	6282	420	15	4	155	4	GC	4	72618353	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	64952219	72618353	118535923	23	7988											
FAM190A	401145	broad.mit.edu	37	4	91230163	91230163	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:91230163A>T	uc003hsv.4	+	1	1068	c.728A>T	c.(727-729)cAa>cTa	p.Q243L	FAM190A_uc003hsu.3_Missense_Mutation_p.Q243L|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.Q243L	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	243										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AGCTCTTTACAATCTCCTTTG	0.418													T	91230163	A	T	91230163	3	4	119	1	0	0	0	0	1	0	0	0	5521	130	5	5	730	5	FAM190A	4	91230163	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	18611810	91230163	99924113	24	7989											
C4orf21	55345	broad.mit.edu	37	4	113481967	113481967	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:113481967G>T	uc003iau.3	-	18	5093	c.4882C>A	c.(4882-4884)Caa>Aaa	p.Q1628K	C4orf21_uc003iav.3_Non-coding_Transcript|C4orf21_uc003iat.3_Missense_Mutation_p.Q86K	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCCATCATTTGAGCTATTTGA	0.378													T	113481967	G	T	113481967	3	4	119	1	0	0	0	0	1	0	0	0	2254	1299	45	5	1472	5	C4orf21	4	113481967	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	22251804	113481967	77672309	25	7990											
ANK2	287	broad.mit.edu	37	4	114251469	114251469	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:114251469C>G	uc003ibe.4	+	26	3068	c.2968C>G	c.(2968-2970)Cga>Gga	p.R990G	ANK2_uc003ibd.4_Missense_Mutation_p.R981G|ANK2_uc003ibf.4_Missense_Mutation_p.R990G|ANK2_uc011cgc.2_Missense_Mutation_p.R199G|ANK2_uc003ibg.4_Missense_Mutation_p.R18G|ANK2_uc003ibc.2_Missense_Mutation_p.R966G|ANK2_uc011cgb.1_Missense_Mutation_p.R1005G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	990	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		CAATGGGCTCCGAATCATTAT	0.473													G	114251469	C	G	114251469	3	3	119	1	0	0	0	0	1	0	0	0	621	644	23	5	3139	5	ANK2	4	114251469	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	769502	114251469	76902807	26	7991											
MYO10	4651	broad.mit.edu	37	5	16769271	16769271	+	Silent	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:16769271C>T	uc003jft.4	-	9	1440	c.972G>A	c.(970-972)cgG>cgA	p.R324R	MYO10_uc010itx.3_5'Flank	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	324	Myosin head-like.		R -> W (in dbSNP:rs11750538).		axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCGACACTTCCCGAACTTCCT	0.413													T	16769271	C	T	16769271	2	4	119	1	0	0	0	0	0	0	0	1	10062	610	22	3		3	MYO10	5	16769271	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08		16769271	164145989	27	7992											
TSSK1B	83942	broad.mit.edu	37	5	112769636	112769636	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:112769636C>T	uc003kqm.2	-	0	1093	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	301					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GAGCCAGGTTCGGGGGTCCAC	0.622													T	112769636	C	T	112769636	3	4	119	1	0	0	0	0	1	0	0	0	16665	893	31	2	206	2	TSSK1B	5	112769636	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	96000365	112769636	68145624	28	7993											
PCDHGC5	56114	broad.mit.edu	37	5	140711854	140711854	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:140711854C>T	uc003lji.2	+	0	1603	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	PCDHGC5_uc011dan.2_Missense_Mutation_p.R535W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	537	Cadherin 5.				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)			AGTGATGGCGCGGGACAGTGG	0.602													T	140711854	C	T	140711854	3	4	119	1	0	0	0	0	1	0	0	0	11571	759	27	1		1	PCDHGC5	5	140711854	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	27942218	140711854	40203406	29	7994											
FBXO38	81545	broad.mit.edu	37	5	147782003	147782003	+	Silent	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:147782003A>G	uc003lpf.1	+	4	639	c.519A>G	c.(517-519)ggA>ggG	p.G173G	FBXO38_uc003lpg.1_Silent_p.G173G|FBXO38_uc003lph.2_Silent_p.G173G	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	173						cytoplasm|nucleus			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)			ATCGTAATGGAGCTTTTCCAA	0.363													G	147782003	A	G	147782003	2	3	119	1	0	0	0	0	0	0	0	1	5746	291	11	4		4	FBXO38	5	147782003	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	7070149	147782003	33133257	30	7995											
EXOC2	55770	broad.mit.edu	37	6	619481	619481	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:619481C>T	uc003mtd.3	-	4	619	c.485G>A	c.(484-486)aGt>aAt	p.S162N	EXOC2_uc003mte.3_Missense_Mutation_p.S162N|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	162					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GAAATTCTCACTTGTAAAATC	0.378													T	619481	C	T	619481	3	4	119	1	0	0	0	0	1	0	0	0	5302	565	20	3	2385	3	EXOC2	6	619481	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		619481	170495586	31	7996											
HLA-DQA2	3118	broad.mit.edu	37	6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	rs144060347		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:32713607C>T	uc003obx.3	+	2	429	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCCTGTGACGCTGGGTCAG	0.507													T	32713607	C	T	32713607	3	4	119	1	0	0	0	0	1	0	0	0	7205	536	19	1	381	1	HLA-DQA2	6	32713607	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	32094126	32713607	138401460	32	7997											
BRPF3	27154	broad.mit.edu	37	6	36175096	36175096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:36175096delC	uc003olv.4	+	3	1836	c.1612delC	c.(1612-1614)cagfs	p.Q538fs	BRPF3_uc010jwb.3_Frame_Shift_Del_p.Q538fs|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Frame_Shift_Del_p.Q538fs	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	538					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GTAGCGAGAGCAGGATGAGAA	0.547													-	36175096	C	-	36175096	7	5	119	1	0	1	0	1	0	0	0	0	1521	711	25	0	1622	0	BRPF3	6	36175096	Frame_Shift_Del	DEL	C	TCGA-12-3649-01A-01D-1495-08	3461489	36175096	134939971	33	7998											
BMP5	653	broad.mit.edu	37	6	55620351	55620351	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:55620351G>A	uc003pcq.3	-	6	2057	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	BMP5_uc011dxf.2_Missense_Mutation_p.R412C	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	449					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R449H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCACATGAGCGTACTACCATA	0.328													A	55620351	G	A	55620351	3	1	119	1	0	0	0	0	1	0	0	0	1463	1145	40	1	23	1	BMP5	6	55620351	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	19445255	55620351	115494716	34	7999											
GRIK2	2898	broad.mit.edu	37	6	102483322	102483322	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:102483322C>G	uc003pqp.4	+	13	2485	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	GRIK2_uc010kcw.3_Missense_Mutation_p.S731C|GRIK2_uc003pqo.4_Missense_Mutation_p.S731C|GRIK2_uc021zdk.1_Missense_Mutation_p.S544C|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	731					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTCCTCACCTCTGATTATGCT	0.443													G	102483322	C	G	102483322	3	3	119	1	0	0	0	0	1	0	0	0	6774	913	32	5	2246	5	GRIK2	6	102483322	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	46862971	102483322	68631745	35	8000											
PCLO	27445	broad.mit.edu	37	7	82508670	82508670	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr7:82508670G>A	uc003uhx.2	-	9	13926	c.13637C>T	c.(13636-13638)aCg>aTg	p.T4546M	PCLO_uc003uhv.2_Missense_Mutation_p.T4546M|PCLO_uc003uht.1_5'UTR|PCLO_uc003uhu.1_5'UTR	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T4546M(1)		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						AAGCTTCCCCGTCTGTTCCGC	0.358													A	82508670	G	A	82508670	3	1	119	1	0	0	0	0	1	0	0	0	11583	1145	40	1	1872	1	PCLO	7	82508670	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		82508670	76629993	36	8001											
CSMD1	64478	broad.mit.edu	37	8	4277522	4277522	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:4277522G>A	uc022aqr.1	-	2	758	c.368C>T	c.(367-369)aCg>aTg	p.T123M		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	123	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAGTCTGTCGTGAACCACAG	0.403													A	4277522	G	A	4277522	3	1	119	1	0	0	0	0	1	0	0	0	3944	1145	40	1	10411	1	CSMD1	8	4277522	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		4277522	142086500	37	8002											
ADAM7	8756	broad.mit.edu	37	8	24357714	24357714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:24357714C>A	uc003xeb.3	+	17	2060	c.1947C>A	c.(1945-1947)tgC>tgA	p.C649*	ADAM7_uc003xec.3_Nonsense_Mutation_p.C421*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	649	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		gaCTCCAGTGCCACTGTGAGG	0.433													A	24357714	C	A	24357714	4	1	119	1	0	0	0	0	0	1	0	0	251	747	26	5	2017	5	ADAM7	8	24357714	Nonsense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	20080192	24357714	122006308	38	8003											
XKR9	389668	broad.mit.edu	37	8	71646034	71646034	+	Missense_Mutation	SNP	C	C	T	rs140711820		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:71646034C>T	uc003xyq.3	+	4	1031	c.497C>T	c.(496-498)gCg>gTg	p.A166V	XKR9_uc010lzd.3_Missense_Mutation_p.A34V|XKR9_uc010lze.3_Missense_Mutation_p.A166V	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	166						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTTGTAGATGCGGCCATCATG	0.308													T	71646034	C	T	71646034	3	4	119	1	0	0	0	0	1	0	0	0	17435	768	27	1	507	1	XKR9	8	71646034	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	47288320	71646034	74717988	39	8004											
GLIS3	169792	broad.mit.edu	37	9	4117963	4117963	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:4117963G>A	uc003zhx.1	-	3	2228	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	GLIS3_uc003zic.1_Silent_p.I505I|GLIS3_uc003zie.1_Silent_p.I505I|GLIS3_uc010mhh.1_Silent_p.I380I|GLIS3_uc003zid.1_Silent_p.I283I|GLIS3_uc010mhi.1_Silent_p.I312I|GLIS3_uc003zif.1_Silent_p.I283I|GLIS3_uc003zih.1_Silent_p.I283I|GLIS3_uc003zig.1_Silent_p.I349I|GLIS3_uc003zhw.1_Silent_p.I350I|GLIS3_uc003zhy.1_Silent_p.I283I|GLIS3_uc003zhz.1_Silent_p.I283I|GLIS3_uc003zib.1_Silent_p.I349I|GLIS3_uc010mhg.1_Silent_p.I283I	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	350					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CGCTGCAGTCGATCCAGCGGC	0.667													A	4117963	G	A	4117963	2	1	119	1	0	0	0	0	0	0	0	1	6447	1048	37	2		2	GLIS3	9	4117963	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08		4117963	137095468	40	8005											
TESK1	7016	broad.mit.edu	37	9	35609198	35609198	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:35609198G>A	uc003zxa.3	+	9	1676	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	TESK1_uc010mks.3_Missense_Mutation_p.R287H	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	447					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCCCCGCCGTATGGAGACA	0.687													A	35609198	G	A	35609198	3	1	119	1	0	0	0	0	1	0	0	0	15764	1145	40	1	1378	1	TESK1	9	35609198	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	31491235	35609198	105604233	41	8006											
FBP2	8789	broad.mit.edu	37	9	97333806	97333806	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:97333806C>T	uc004auv.3	-	3	572	c.505G>A	c.(505-507)Ggt>Agt	p.G169S		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	169					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GTTGCACTACCGTACAGCGCA	0.552													T	97333806	C	T	97333806	3	4	119	1	0	0	0	0	1	0	0	0	5706	652	23	2	530	2	FBP2	9	97333806	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	61724608	97333806	43879625	42	8007											
USP20	10868	broad.mit.edu	37	9	132638480	132638480	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:132638480C>T	uc004bys.2	+	21	2583	c.2372C>T	c.(2371-2373)gCc>gTc	p.A791V	USP20_uc004byr.2_Missense_Mutation_p.A791V|USP20_uc004byt.1_Missense_Mutation_p.A791V	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	791	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGGCACTGGCCAAGCGCAGG	0.677													T	132638480	C	T	132638480	3	4	119	1	0	0	0	0	1	0	0	0	17049	739	26	3	2450	3	USP20	9	132638480	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	35304674	132638480	8574951	43	8008											
CUBN	8029	broad.mit.edu	37	10	17146591	17146591	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:17146591C>T	uc001ioo.3	-	11	1296	c.1244G>A	c.(1243-1245)gGt>gAt	p.G415D		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	415	EGF-like 6.				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.G415G(1)		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)	ACAAAAATAACCAGAGACAGT	0.373													T	17146591	C	T	17146591	3	4	119	1	0	0	0	0	1	0	0	0	4051	507	18	3	9851	3	CUBN	10	17146591	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		17146591	118388156	44	8009											
TMEM26	219623	broad.mit.edu	37	10	63170497	63170497	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:63170497G>T	uc001jlo.2	-	5	1059	c.690C>A	c.(688-690)aaC>aaA	p.N230K	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	230						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGCACACAACGTTCTGTACTG	0.473													T	63170497	G	T	63170497	3	4	119	1	0	0	0	0	1	0	0	0	16148	1136	40	5	420	5	TMEM26	10	63170497	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	46023906	63170497	72364250	45	8010											
PTEN	5728	broad.mit.edu	37	10	89725042	89725042	+	Splice_Site	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:89725042A>G	uc001kfb.3	+	9	2059	c.1027_splice	c.e9-2	p.V343_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	343	C2 tensin-type.		V -> E (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCTTTCTCTAGGTGAAGCTG	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89725042	A	G	89725042	5	3	119	1	0	0	0	0	0	0	1	0	12738	434	15	4	1059	4	PTEN	10	89725042	Splice_Site	SNP	A	TCGA-12-3649-01A-01D-1495-08	26554545	89725042	45809705	46	8011											
CHRNA10	57053	broad.mit.edu	37	11	3687643	3687643	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:3687643G>A	uc001lyf.3	-	4	1119	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	CHRNA10_uc010qxt.2_Silent_p.C143C|CHRNA10_uc010qxu.2_Silent_p.C143C	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	349					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TTTCCCGCACGCACAGGCCCC	0.667													A	3687643	G	A	3687643	2	1	119	1	0	0	0	0	0	0	0	1	3382	1079	38	1		1	CHRNA10	11	3687643	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08		3687643	131318873	47	8012											
OR52I2	143502	broad.mit.edu	37	11	4608268	4608268	+	Missense_Mutation	SNP	G	G	A	rs138555035		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:4608268G>A	uc010qyh.2	+	0	248	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCATCATCGTGACTGCAAT	0.507													A	4608268	G	A	4608268	3	1	119	1	0	0	0	0	1	0	0	0	11121	1145	40	1	228	1	OR52I2	11	4608268	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	920625	4608268	130398248	48	8013											
OR52I1	390037	broad.mit.edu	37	11	4615416	4615416	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:4615416G>A	uc010qyi.2	+	0	148	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCCTCATCGTGACTGCAAT	0.517													A	4615416	G	A	4615416	3	1	119	1	0	0	0	0	1	0	0	0	11120	1145	40	1	150	1	OR52I1	11	4615416	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	7148	4615416	130391100	49	8014											
OR52H1	390067	broad.mit.edu	37	11	5566723	5566723	+	Missense_Mutation	SNP	T	T	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5566723T>G	uc010qzh.2	-	0	31	c.31A>C	c.(31-33)Aac>Cac	p.N11H	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTCAGGTTGAAAATGATC	0.443													G	5566723	T	G	5566723	3	3	119	1	0	0	0	0	1	0	0	0	11119	1812	63	5	934	5	OR52H1	11	5566723	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	951307	5566723	129439793	50	8015											
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5626645	5626645	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5626645C>T	uc001mbf.3	+	3	945	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.R174W|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.R200W|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.R228W|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.R25W	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	228						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGTGGAGCAACGGGAGCTGAA	0.488											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	5626645	C	T	5626645	3	4	119	1	0	0	0	0	1	0	0	0	16531	527	19	1	696	1	TRIM6-TRIM34	11	5626645	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	59922	5626645	129379871	51	8016											
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5631406	5631406	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5631406G>A	uc001mbf.3	+	5	1152	c.889G>A	c.(889-891)Gct>Act	p.A297T	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.A243T|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.A269T|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.A297T|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.A94T	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	297						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GAAGCCAGAAGCTCTCCCTAC	0.517													A	5631406	G	A	5631406	3	1	119	1	0	0	0	0	1	0	0	0	16531	971	34	3	911	3	TRIM6-TRIM34	11	5631406	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	4761	5631406	129375110	52	8017											
MTNR1B	4544	broad.mit.edu	37	11	92714701	92714701	+	Silent	SNP	C	C	T	rs139515067		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:92714701C>T	uc001pdk.1	+	1	415	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	104					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.D104D(4)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCTTCTATGACGGCTGGGCCC	0.567													T	92714701	C	T	92714701	2	4	119	1	0	0	0	0	0	0	0	1	9952	535	19	1		1	MTNR1B	11	92714701	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	87083295	92714701	42291815	53	8018											
OR8A1	390275	broad.mit.edu	37	11	124440668	124440668	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:124440668C>A	uc010san.2	+	0	704	c.704C>A	c.(703-705)aCc>aAc	p.T235N		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTTTCTTACACCTTCATTCTC	0.493													A	124440668	C	A	124440668	3	1	119	1	0	0	0	0	1	0	0	0	11225	507	18	5	706	5	OR8A1	11	124440668	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	31725967	124440668	10565848	54	8019											
PLEKHA5	54477	broad.mit.edu	37	12	19436597	19436597	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:19436597G>A	uc001reb.3	+	10	1787	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	PLEKHA5_uc010sie.2_Missense_Mutation_p.R566Q|PLEKHA5_uc001rea.3_Missense_Mutation_p.R560Q|PLEKHA5_uc009zin.3_Missense_Mutation_p.R318Q|PLEKHA5_uc010sig.2_Missense_Mutation_p.R452Q|PLEKHA5_uc010sih.1_Missense_Mutation_p.R452Q|PLEKHA5_uc021qvy.1_Missense_Mutation_p.R452Q|PLEKHA5_uc001rec.1_Missense_Mutation_p.R248Q	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	560							1-phosphatidylinositol binding|protein binding	p.Q559K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCCCTCAACGAACTTACAGA	0.468													A	19436597	G	A	19436597	3	1	119	1	0	0	0	0	1	0	0	0	12059	1058	37	2	1721	2	PLEKHA5	12	19436597	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		19436597	114415298	55	8020											
ZFC3H1	196441	broad.mit.edu	37	12	72030416	72030416	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:72030416C>G	uc001swo.2	-	8	2313	c.1954G>C	c.(1954-1956)Gac>Cac	p.D652H		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	652					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAGGTGGGTCACTATTACTG	0.363													G	72030416	C	G	72030416	3	3	119	1	0	0	0	0	1	0	0	0	17630	826	29	5	4123	5	ZFC3H1	12	72030416	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	52593819	72030416	61821479	56	8021											
C12orf50	160419	broad.mit.edu	37	12	88388465	88388466	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:88388465_88388466delTA	uc001tam.1	-	6	704_705	c.536_537delTA	c.(535-537)atafs	p.I179fs	C12orf50_uc001tan.3_Frame_Shift_Del_p.I233fs	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	179										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATGATGTTTTTATTTCACCTTG	0.347													-	88388466	TA	-	88388465	7	5	119	1	0	1	0	1	0	0	0	0	1695	1744	61	0	735	0	C12orf50	12	88388465	Frame_Shift_Del	DEL	TA	TCGA-12-3649-01A-01D-1495-08	16358049	88388465	45463430	57	8022											
CCDC60	160777	broad.mit.edu	37	12	119966451	119966451	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:119966451C>T	uc001txe.3	+	11	1726	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	421										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAGAAGTTCCGTGCTTTTGT	0.428													T	119966451	C	T	119966451	3	4	119	1	0	0	0	0	1	0	0	0	2831	652	23	2	1307	2	CCDC60	12	119966451	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	31577986	119966451	13885444	58	8023											
GCN1L1	10985	broad.mit.edu	37	12	120599767	120599767	+	Silent	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:120599767A>T	uc001txo.3	-	20	2272	c.2259T>A	c.(2257-2259)ccT>ccA	p.P753P		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	753					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCGCAGTGCAGGGTTCTGCA	0.592													T	120599767	A	T	120599767	2	4	119	1	0	0	0	0	0	0	0	1	6299	175	7	5		5	GCN1L1	12	120599767	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	633316	120599767	13252128	59	8024											
TUBA3C	7278	broad.mit.edu	37	13	19751200	19751200	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:19751200C>T	uc009zzj.3	-	3	1028	c.923G>A	c.(922-924)cGc>cAc	p.R308H		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	308					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTGCCGTGGCGAGGGTCACA	0.587													T	19751200	C	T	19751200	3	4	119	1	0	0	0	0	1	0	0	0	16743	768	27	1	437	1	TUBA3C	13	19751200	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		19751200	95418678	60	8025											
KLHL1	57626	broad.mit.edu	37	13	70681808	70681808	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:70681808G>T	uc001vip.3	-	0	818	c.24C>A	c.(22-24)gaC>gaA	p.D8E	KLHL1_uc010thm.2_Missense_Mutation_p.D8E|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	8					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCACATCGAAGTCTTTTCGCC	0.632													T	70681808	G	T	70681808	3	4	119	1	0	0	0	0	1	0	0	0	8365	1020	36	5	2266	5	KLHL1	13	70681808	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	50930608	70681808	44488070	61	8026											
CLN5	1203	broad.mit.edu	37	13	77570066	77570066	+	Silent	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:77570066A>G	uc001vkc.3	+	2	544	c.516A>G	c.(514-516)agA>agG	p.R172R		NM_006493	NP_006484	O75503	CLN5_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.	123					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGGATTCAGAAGTACATTAA	0.413													G	77570066	A	G	77570066	2	3	119	1	0	0	0	0	0	0	0	1	3544	243	9	4		4	CLN5	13	77570066	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	6888258	77570066	37599812	62	8027											
SUPT16H	11198	broad.mit.edu	37	14	21822688	21822688	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:21822688A>G	uc001wao.2	-	22	3011	c.2672T>C	c.(2671-2673)cTg>cCg	p.L891P	SUPT16H_uc001wan.2_Missense_Mutation_p.L35P	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	891					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGTATTTCAGGTCGCAGGA	0.403													G	21822688	A	G	21822688	3	3	119	1	0	0	0	0	1	0	0	0	15393	188	7	4	487	4	SUPT16H	14	21822688	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08		21822688	85526852	63	8028											
SIPA1L1	26037	broad.mit.edu	37	14	72055814	72055814	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:72055814G>A	uc001xms.3	+	1	1586	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	SIPA1L1_uc001xmt.3_Missense_Mutation_p.E409K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.E409K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.E409K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	409					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)		TAAAAGCAATGAGCTTGTAAT	0.458													A	72055814	G	A	72055814	3	1	119	1	0	0	0	0	1	0	0	0	14329	1291	45	3	1227	3	SIPA1L1	14	72055814	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	50233126	72055814	35293726	64	8029											
CALM1	801	broad.mit.edu	37	14	90870850	90870850	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:90870850A>G	uc001xyl.2	+	4	661	c.413A>G	c.(412-414)aAc>aGc	p.N138S	CALM1_uc010atq.2_Missense_Mutation_p.N139S|CALM1_uc001xym.2_Missense_Mutation_p.N102S	NM_006888	NP_005175	P62158	CALM_HUMAN	Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), transcript variant 1, mRNA.	138	EF-hand 4.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GGACAAGTCAACTATGAAGGT	0.383													G	90870850	A	G	90870850	3	3	119	1	0	0	0	0	1	0	0	0	2584	43	2	4	431	4	CALM1	14	90870850	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	18815036	90870850	16478690	65	8030											
PPP4R4	57718	broad.mit.edu	37	14	94700063	94700063	+	Nonsense_Mutation	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:94700063T>A	uc001ycs.1	+	5	744	c.590T>A	c.(589-591)tTa>tAa	p.L197*		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	197						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTAAAATTTTAGGAAAATTG	0.308													A	94700063	T	A	94700063	4	1	119	1	0	0	0	0	0	1	0	0	12405	1764	61	5	685	5	PPP4R4	14	94700063	Nonsense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	3829213	94700063	12649477	66	8031											
SERPINA11	256394	broad.mit.edu	37	14	94909543	94909543	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:94909543G>A	uc001ydd.1	-	3	997	c.937C>T	c.(937-939)Cca>Tca	p.P313S		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	313					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)		GAAAACCTTGGCAAGTGCAAA	0.458													A	94909543	G	A	94909543	3	1	119	1	0	0	0	0	1	0	0	0	14088	1203	42	3	339	3	SERPINA11	14	94909543	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	209480	94909543	12439997	67	8032											
JAG2	3714	broad.mit.edu	37	14	105612833	105612833	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:105612833G>A	uc001yqg.3	-	21	3002	c.2598C>T	c.(2596-2598)atC>atT	p.I866I	JAG2_uc001yqf.3_Silent_p.I270I|JAG2_uc001yqh.3_Silent_p.I828I	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	866					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCCGAACCCGATCACTGTGG	0.682													A	105612833	G	A	105612833	2	1	119	1	0	0	0	0	0	0	0	1	7935	1048	37	2		2	JAG2	14	105612833	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08	10703290	105612833	1736707	68	8033											
JAG2	3714	broad.mit.edu	37	14	105618019	105618019	+	Missense_Mutation	SNP	G	G	A	rs140813175		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:105618019G>A	uc001yqg.3	-	7	1501	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Missense_Mutation_p.P366L	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	366	EGF-like 4.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAAGCCGGACGGCACCTCATG	0.667													A	105618019	G	A	105618019	3	1	119	1	0	0	0	0	1	0	0	0	7935	1116	39	2	2695	2	JAG2	14	105618019	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	5186	105618019	1731521	69	8034											
SLC27A2	11001	broad.mit.edu	37	15	50494831	50494831	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr15:50494831G>A	uc001zxw.3	+	2	1068	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	SLC27A2_uc010bes.3_Intron|SLC27A2_uc001zxx.3_Missense_Mutation_p.C44Y	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	279					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATTCACGGATGTATTGTGGCT	0.428													A	50494831	G	A	50494831	3	1	119	1	0	0	0	0	1	0	0	0	14526	1377	48	3	846	3	SLC27A2	15	50494831	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		50494831	52036561	70	8035											
BLM	641	broad.mit.edu	37	15	91312761	91312761	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr15:91312761A>T	uc002bpr.3	+	11	2597	c.2500A>T	c.(2500-2502)Aat>Tat	p.N834Y	BLM_uc010uqh.2_Missense_Mutation_p.N834Y|BLM_uc010uqi.2_Missense_Mutation_p.N459Y|BLM_uc010bnx.3_Missense_Mutation_p.N834Y	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	834	Helicase ATP-binding.				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			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)			GGCCACAGCTAATCCCAGGGT	0.478			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				T	91312761	A	T	91312761	3	4	119	1	0	0	0	0	1	0	0	0	1445	362	13	5	2542	5	BLM	15	91312761	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	40817930	91312761	11218631	71	8036											
CDH16	1014	broad.mit.edu	37	16	66950022	66950022	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:66950022G>T	uc002eql.3	-	4	564	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	CDH16_uc010cdy.3_Missense_Mutation_p.P124T|CDH16_uc021tjx.1_Missense_Mutation_p.P124T|CDH16_uc002eqm.3_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GAGAAATGGGGCACCTGGTCA	0.582													T	66950022	G	T	66950022	3	4	119	1	0	0	0	0	1	0	0	0	3101	1203	42	5	2175	5	CDH16	16	66950022	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		66950022	23404731	72	8037											
PHLPP2	23035	broad.mit.edu	37	16	71724459	71724459	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:71724459G>C	uc002fax.3	-	2	578	c.572C>G	c.(571-573)aCt>aGt	p.T191S	PHLPP2_uc010cgf.3_Missense_Mutation_p.T191S|PHLPP2_uc002fay.1_Missense_Mutation_p.T191S|TRNA_Gln_uc021tkw.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	191	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CATCTTTCCAGTTTGACAATC	0.408													C	71724459	G	C	71724459	3	2	119	1	0	0	0	0	1	0	0	0	11855	1029	36	5	3463	5	PHLPP2	16	71724459	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	4774437	71724459	18630294	73	8038											
MYH3	4621	broad.mit.edu	37	17	10533648	10533648	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:10533648G>A	uc002gmq.2	-	36	5502	c.5414C>T	c.(5413-5415)gCg>gTg	p.A1805V		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1805					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCCCTTCAGCGCCAGCTGCTC	0.607													A	10533648	G	A	10533648	3	1	119	1	0	0	0	0	1	0	0	0	10036	1087	38	1	428	1	MYH3	17	10533648	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		10533648	70661562	74	8039											
ANKRD13B	124930	broad.mit.edu	37	17	27939203	27939203	+	Silent	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:27939203T>A	uc002hei.3	+	10	1283	c.1170T>A	c.(1168-1170)atT>atA	p.I390I	ANKRD13B_uc002heh.3_Silent_p.I258I|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	390										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCCCCATCATTGACCTCATGG	0.597													A	27939203	T	A	27939203	2	1	119	1	0	0	0	0	0	0	0	1	642	1800	63	5		5	ANKRD13B	17	27939203	Silent	SNP	T	TCGA-12-3649-01A-01D-1495-08	17405555	27939203	53256007	75	8040											
MEP1B	4225	broad.mit.edu	37	18	29787380	29787380	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr18:29787380G>A	uc002kxj.4	+	7	760	c.713G>A	c.(712-714)cGa>cAa	p.R238Q		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	238	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCGGCCAACGAATGGATTTC	0.388													A	29787380	G	A	29787380	3	1	119	1	0	0	0	0	1	0	0	0	9476	1058	37	2	743	2	MEP1B	18	29787380	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		29787380	48289868	76	8041											
CBLN2	147381	broad.mit.edu	37	18	70209243	70209243	+	Silent	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr18:70209243C>T	uc002lku.2	-	1	388	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CBLN2_uc002lkv.2_Silent_p.A51A	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	51						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGTCGTTCTGCGCCCGCACGG	0.741													T	70209243	C	T	70209243	2	4	119	1	0	0	0	0	0	0	0	1	2705	755	27	1		1	CBLN2	18	70209243	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	40421863	70209243	7868005	77	8042											
C19orf21	126353	broad.mit.edu	37	19	758162	758162	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:758162C>T	uc002lpo.3	+	1	1299	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	406										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		CCCAGATGCCCGTGCGGCCGA	0.682													T	758162	C	T	758162	3	4	119	1	0	0	0	0	1	0	0	0	1913	652	23	2	1218	2	C19orf21	19	758162	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		758162	58370821	78	8043											
GADD45B	4616	broad.mit.edu	37	19	2477591	2477591	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:2477591G>C	uc002lwb.2	+	3	709	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q		NM_015675	NP_056490	O75293	GA45B_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA.	159					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress					cervix(2)|lung(1)|ovary(1)	4		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)		CTCTCTTCAGGAACGCTGAGG	0.562													C	2477591	G	C	2477591	3	2	119	1	0	0	0	0	1	0	0	0	6182	1175	41	5	489	5	GADD45B	19	2477591	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	1719429	2477591	56651392	79	8044											
CPAMD8	27151	broad.mit.edu	37	19	17086956	17086956	+	Silent	SNP	T	T	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:17086956T>C	uc002nfb.3	-	15	1937	c.1905A>G	c.(1903-1905)tcA>tcG	p.S635S		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	588						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AATACGTCACTGAAACCTTGG	0.557													C	17086956	T	C	17086956	2	2	119	1	0	0	0	0	0	0	0	1	3795	1567	55	4		4	CPAMD8	19	17086956	Silent	SNP	T	TCGA-12-3649-01A-01D-1495-08	14609365	17086956	42042027	80	8045											
B3GNT3	10331	broad.mit.edu	37	19	17918748	17918748	+	Silent	SNP	C	C	T	rs79614823	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:17918748C>T	uc002nhl.1	+	1	279	c.132C>T	c.(130-132)ccC>ccT	p.P44P	B3GNT3_uc010ebd.1_Silent_p.P44P|B3GNT3_uc010ebe.1_Silent_p.P44P	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	44					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CGGCGATCCCCGAGGCCCTGG	0.687													T	17918748	C	T	17918748	2	4	119	1	0	0	0	0	0	0	0	1	1258	639	23	2		2	B3GNT3	19	17918748	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	831792	17918748	41210235	81	8046											
ZNF493	284443	broad.mit.edu	37	19	21606457	21606457	+	Silent	SNP	T	T	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:21606457T>C	uc002npw.3	+	3	1115	c.996T>C	c.(994-996)atT>atC	p.I332I	ZNF493_uc002npx.3_Silent_p.I204I|ZNF493_uc002npy.3_Silent_p.I204I|ZNF493_uc021urq.1_Silent_p.I204I	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						CCTTTAGTATTTTCTCAACCC	0.348													C	21606457	T	C	21606457	2	2	119	1	0	0	0	0	0	0	0	1	17941	1829	64	4		4	ZNF493	19	21606457	Silent	SNP	T	TCGA-12-3649-01A-01D-1495-08	3687709	21606457	37522526	82	8047											
LSR	51599	broad.mit.edu	37	19	35757850	35757850	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:35757850C>T	uc002nyl.3	+	7	1491	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	LSR_uc010xsr.2_Missense_Mutation_p.P315L|LSR_uc002nym.3_Missense_Mutation_p.P404L|LSR_uc002nyn.3_Missense_Mutation_p.P355L|LSR_uc002nyo.3_Missense_Mutation_p.P403L|LSR_uc002nyp.3_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	423					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGCCCCCCCAGTGGCCGT	0.622													T	35757850	C	T	35757850	3	4	119	1	0	0	0	0	1	0	0	0	9064	623	22	3	1298	3	LSR	19	35757850	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	14151393	35757850	23371133	83	8048											
CEACAM18	729767	broad.mit.edu	37	19	51986389	51986389	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:51986389G>A	uc002pwv.1	+	4	975	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	325	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGATCTCAAGTACCACTGGA	0.512													A	51986389	G	A	51986389	2	1	119	1	0	0	0	0	0	0	0	1	3189	1020	36	3		3	CEACAM18	19	51986389	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08	16228539	51986389	7142594	84	8049											
ZNF845	91664	broad.mit.edu	37	19	53855879	53855879	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:53855879C>G	uc010ydv.1	+	3	2068	c.1951C>G	c.(1951-1953)Caa>Gaa	p.Q651E	ZNF845_uc010ydw.1_Missense_Mutation_p.Q651E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q651E(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAACCTTCAAAGACATAG	0.398													G	53855879	C	G	53855879	3	3	119	1	0	0	0	0	1	0	0	0	18188	827	29	5	1961	5	ZNF845	19	53855879	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	1869490	53855879	5273104	85	8050											
ZSCAN5B	342933	broad.mit.edu	37	19	56704064	56704064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:56704064G>A	uc010ygh.2	-	0	358	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	120	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGTTATTTCGTAGCAGGTCC	0.537													A	56704064	G	A	56704064	4	1	119	1	0	0	0	0	0	1	0	0	18236	1153	40	1	1145	1	ZSCAN5B	19	56704064	Nonsense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	2848185	56704064	2424919	86	8051											
ACTR5	79913	broad.mit.edu	37	20	37383758	37383758	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:37383758C>T	uc002xjd.2	+	3	959	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	312					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CAATGCCCGGCGGCGGGAGGA	0.597													T	37383758	C	T	37383758	3	4	119	1	0	0	0	0	1	0	0	0	215	759	27	1	948	1	ACTR5	20	37383758	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		37383758	25641762	87	8052											
SALL4	57167	broad.mit.edu	37	20	50400910	50400910	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:50400910G>C	uc002xwh.4	-	3	3157	c.3056C>G	c.(3055-3057)tCc>tGc	p.S1019C	SALL4_uc010gii.3_Missense_Mutation_p.S582C|SALL4_uc002xwi.4_Missense_Mutation_p.S242C	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	1019					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCCGACTGGGAGCCATCCAT	0.542													C	50400910	G	C	50400910	3	2	119	1	0	0	0	0	1	0	0	0	13813	1174	41	5	109	5	SALL4	20	50400910	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	13017152	50400910	12624610	88	8053											
PRIC285	85441	broad.mit.edu	37	20	62195800	62195800	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:62195800C>T	uc002yfm.2	-	8	5267	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	PRIC285_uc002yfl.1_Missense_Mutation_p.E890K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1459					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCCGCCTCCTCGTAGGACAGC	0.682													T	62195800	C	T	62195800	3	4	119	1	0	0	0	0	1	0	0	0	12485	893	31	2	3622	2	PRIC285	20	62195800	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	11794890	62195800	829720	89	8054											
PMM1	5372	broad.mit.edu	37	22	41974860	41974860	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr22:41974860A>G	uc003bal.2	-	5	562	c.500T>C	c.(499-501)gTg>gCg	p.V167A		NM_002676	NP_002667	Q92871	PMM1_HUMAN	Homo sapiens phosphomannomutase 1 (PMM1), mRNA.	167					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	p.F166F(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CAGGGCTTCCACGAACTTCTC	0.617													G	41974860	A	G	41974860	3	3	119	1	0	0	0	0	1	0	0	0	12136	159	6	4	300	4	PMM1	22	41974860	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08		41974860	9329706	90	8055											
DMD	1756	broad.mit.edu	37	X	31165414	31165414	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:31165414C>G	uc004dda.1	-	74	11019	c.10775G>C	c.(10774-10776)aGg>aCg	p.R3592T	DMD_uc004dcq.1_Missense_Mutation_p.R863T|DMD_uc004dcr.1_Missense_Mutation_p.R1022T|DMD_uc004dcs.1_Missense_Mutation_p.R1022T|DMD_uc004dct.1_Missense_Mutation_p.R1132T|DMD_uc004dcu.1_Missense_Mutation_p.R1132T|DMD_uc004dcv.1_Missense_Mutation_p.R1119T|DMD_uc004dcw.2_Missense_Mutation_p.R2248T|DMD_uc004dcx.2_Missense_Mutation_p.R2251T|DMD_uc004dcz.2_Missense_Mutation_p.R3469T|DMD_uc004dcy.1_Missense_Mutation_p.R3588T|DMD_uc004ddb.1_Missense_Mutation_p.R3584T|DMD_uc004dcp.1_Missense_Mutation_p.R511T|DMD_uc011mkb.1_Missense_Mutation_p.R414T|DMD_uc004dcm.1_Missense_Mutation_p.R524T|DMD_uc004dcn.1_Missense_Mutation_p.R511T|DMD_uc004dco.1_Missense_Mutation_p.R524T	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3592					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			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)				CTGCCTTAGCCTGTGTAACTG	0.458													G	31165414	C	G	31165414	3	3	119	1	0	0	0	0	1	0	0	0	4580	681	24	5	388	5	DMD	23	31165414	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		31165414	124105146	91	8056											
MAGEB16	139604	broad.mit.edu	37	X	35820765	35820765	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:35820765T>A	uc010ngt.1	+	1	731	c.452T>A	c.(451-453)tTc>tAc	p.F151Y	MAGEB16_uc022bus.1_Missense_Mutation_p.F151Y	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	151	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGAGCCACTTCTCTGAGATC	0.448													A	35820765	T	A	35820765	3	1	119	1	0	0	0	0	1	0	0	0	9174	1783	62	5	454	5	MAGEB16	23	35820765	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	4655351	35820765	119449795	92	8057											
TGIF2LX	90316	broad.mit.edu	37	X	89177576	89177576	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:89177576G>A	uc022bzr.1	+	0	492	c.492G>A	c.(490-492)aaG>aaA	p.K164K	TGIF2LX_uc004efe.3_Silent_p.K164K	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	164						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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						CCTTGCCAAAGGGCCAGATGT	0.592													A	89177576	G	A	89177576	2	1	119	1	0	0	0	0	0	0	0	1	15824	991	35	3		3	TGIF2LX	23	89177576	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08	53356811	89177576	66092984	93	8058											
DIAPH2	1730	broad.mit.edu	37	X	96212894	96212894	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:96212894G>T	uc004efu.4	+	15	2078	c.1682G>T	c.(1681-1683)gGg>gTg	p.G561V	DIAPH2_uc004eft.4_Missense_Mutation_p.G561V	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	561	FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CCAGGTGTAGGGCCGCCTCCA	0.537													T	96212894	G	T	96212894	3	4	119	1	0	0	0	0	1	0	0	0	4519	1232	43	5	1744	5	DIAPH2	23	96212894	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	7035318	96212894	59057666	94	8059											
MAGEC2	51438	broad.mit.edu	37	X	141291061	141291061	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:141291061A>T	uc022cfj.1	-	0	713	c.713T>A	c.(712-714)tTc>tAc	p.F238Y	MAGEC2_uc004fbu.2_Missense_Mutation_p.F238Y	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	238	MAGE.					cytoplasm|nucleus		p.I237T(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTTTATGAAGATCACACT	0.512										HNSCC(46;0.14)			T	141291061	A	T	141291061	3	4	119	1	0	0	0	0	1	0	0	0	9181	246	9	5	412	5	MAGEC2	23	141291061	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	45078167	141291061	13979499	95	8060											
MAGEA12	4111	broad.mit.edu	37	X	151900207	151900207	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:151900207C>A	uc022chj.1	-	0	594	c.594G>T	c.(592-594)aaG>aaT	p.K198N	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.K198N|MAGEA12_uc022chi.1_Missense_Mutation_p.K198N|MAGEA12_uc004fgc.3_Missense_Mutation_p.K198N	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	198	MAGE.							p.K198*(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCCTGTCTTGGGCACGA	0.577													A	151900207	C	A	151900207	3	1	119	1	0	0	0	0	1	0	0	0	9166	912	32	5	354	5	MAGEA12	23	151900207	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	10609146	151900207	3370353	96	8061											
SPRY3	10251	broad.mit.edu	37	X	155003952	155003952	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:155003952C>A	uc022cio.1	+	0	419	c.419C>A	c.(418-420)cCt>cAt	p.P140H	SPRY3_uc004fnq.1_Missense_Mutation_p.P140H	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	140					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCAGGGCACCCTAGTGAGCAC	0.612													A	155003952	C	A	155003952	3	1	119	1	0	0	0	0	1	0	0	0	15106	681	24	5	421	5	SPRY3	23	155003952	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	3103745	155003952	266608	97	8062											
FOXJ3	22887	broad.mit.edu	37	1	42693556	42693556	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:42693556G>A	uc001che.3	-	6	838	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	FOXJ3_uc001chf.3_Missense_Mutation_p.R176W|FOXJ3_uc001chh.2_Missense_Mutation_p.R176W|FOXJ3_uc001chg.3_Missense_Mutation_p.R176W	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	176					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTTACCCGTTCTACAGAT	0.393													A	42693556	G	A	42693556	3	1	120	1	0	0	0	0	1	0	0	0	6013	1144	40	1	1378	1	FOXJ3	1	42693556	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08		42693556	206557065	1	8063											
NSUN4	387338	broad.mit.edu	37	1	46810560	46810560	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:46810560C>T	uc001cpr.1	+	1	290	c.181C>T	c.(181-183)Cca>Tca	p.P61S	NSUN4_uc010omc.1_Missense_Mutation_p.P12S|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_Missense_Mutation_p.P12S|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	61							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGATCTTTGGCCATCAATCCG	0.488													T	46810560	C	T	46810560	3	4	120	1	0	0	0	0	1	0	0	0	10680	739	26	3	187	3	NSUN4	1	46810560	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	4117004	46810560	202440061	2	8064											
COL11A1	1301	broad.mit.edu	37	1	103487313	103487313	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:103487313C>A	uc001dum.3	-	8	1612	c.1294G>T	c.(1294-1296)Ggt>Tgt	p.G432C	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.G420C|COL11A1_uc001dun.3_Missense_Mutation_p.G381C|COL11A1_uc009weh.3_Missense_Mutation_p.G304C	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	420	Triple-helical region (interrupted).				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			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)		CCATATGCACCATGGCCATTT	0.343													A	103487313	C	A	103487313	3	1	120	1	0	0	0	0	1	0	0	0	3667	594	21	5	4398	5	COL11A1	1	103487313	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	56676753	103487313	145763308	3	8065											
HSPA6	3310	broad.mit.edu	37	1	161495457	161495457	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:161495457G>A	uc001gaq.3	+	0	1422	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	337					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATGACGTCGTCCTGGTGGG	0.597													A	161495457	G	A	161495457	3	1	120	1	0	0	0	0	1	0	0	0	7415	1145	40	1	1011	1	HSPA6	1	161495457	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	58008144	161495457	87755164	4	8066											
CFHR2	3080	broad.mit.edu	37	1	196927110	196927110	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:196927110G>T	uc001gtq.1	+	3	597	c.520G>T	c.(520-522)Gtt>Ttt	p.V174F	CFHR2_uc001gtr.1_Missense_Mutation_p.V50F	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	174	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGGTTCATCAGTTGAGTACCA	0.403													T	196927110	G	T	196927110	3	4	120	1	0	0	0	0	1	0	0	0	3285	1029	36	5	534	5	CFHR2	1	196927110	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	35431653	196927110	52323511	5	8067											
PLB1	151056	broad.mit.edu	37	2	28741363	28741363	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr2:28741363C>A	uc002rmb.2	+	2	192	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PLB1_uc010ezj.2_Missense_Mutation_p.P50T	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	50	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			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)					CCCATGCAACCCAAATAAATT	0.428													A	28741363	C	A	28741363	3	1	120	1	0	0	0	0	1	0	0	0	12024	623	22	5	158	5	PLB1	2	28741363	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		28741363	214458010	6	8068											
STK32B	55351	broad.mit.edu	37	4	5461833	5461833	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:5461833C>T	uc003gih.1	+	8	851	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	STK32B_uc010ida.1_Silent_p.L216L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	263	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACTGCAGCTCCTGACCAAGGA	0.552											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	5461833	C	T	5461833	2	4	120	1	0	0	0	0	0	0	0	1	15297	680	24	3		3	STK32B	4	5461833	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		5461833	185692443	7	8069											
ADH1B	125	broad.mit.edu	37	4	100232699	100232699	+	Missense_Mutation	SNP	A	A	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:100232699A>C	uc003hus.4	-	6	1027	c.943T>G	c.(943-945)Tgg>Ggg	p.W315G	ADH1B_uc003hut.4_Missense_Mutation_p.W275G|ADH1B_uc011ceh.2_Missense_Mutation_p.W160G|ADH1B_uc011cei.1_Missense_Mutation_p.W275G	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	315					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCCCCCTTCCAGGTGCGTCCA	0.433													C	100232699	A	C	100232699	3	2	120	1	0	0	0	0	1	0	0	0	308	188	7	5	196	5	ADH1B	4	100232699	Missense_Mutation	SNP	A	TCGA-12-3650-01A-01D-1495-08	94770866	100232699	90921577	8	8070											
TACR3	6870	broad.mit.edu	37	4	104640358	104640358	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:104640358G>A	uc003hxe.1	-	0	616	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	159						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCTGGAAGCGGCAGTAGTTG	0.542													A	104640358	G	A	104640358	3	1	120	1	0	0	0	0	1	0	0	0	15504	1116	39	2	942	2	TACR3	4	104640358	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	4407659	104640358	86513918	9	8071											
VEGFC	7424	broad.mit.edu	37	4	177650867	177650867	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:177650867G>A	uc003ius.1	-	1	611	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	61					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.R61P(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GACACAGACCGTAACTGCTCC	0.408													A	177650867	G	A	177650867	3	1	120	1	0	0	0	0	1	0	0	0	17149	1144	40	1	1105	1	VEGFC	4	177650867	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	73010509	177650867	13503409	10	8072											
PLEKHG4B	153478	broad.mit.edu	37	5	140705	140705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:140705C>T	uc003jak.2	+	0	333	c.283C>T	c.(283-285)Cag>Tag	p.Q95*		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	95					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			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)		CAGAGGGGCCCAGGCTGCAGC	0.662													T	140705	C	T	140705	4	4	120	1	0	0	0	0	0	1	0	0	12072	595	21	3	285	3	PLEKHG4B	5	140705	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		140705	180774555	11	8073											
SLC6A19	340024	broad.mit.edu	37	5	1216997	1216997	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:1216997C>T	uc003jbw.4	+	7	1166	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	370					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			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)			GCAACGCCTCCGACCCCGCGG	0.627													T	1216997	C	T	1216997	2	4	120	1	0	0	0	0	0	0	0	1	14682	639	23	2		2	SLC6A19	5	1216997	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	1076292	1216997	179698263	12	8074											
SLIT3	6586	broad.mit.edu	37	5	168310294	168310294	+	Missense_Mutation	SNP	C	C	T	rs138901310		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:168310294C>T	uc010jjg.3	-	4	881	c.461G>A	c.(460-462)cGc>cAc	p.R154H	SLIT3_uc003mab.3_Missense_Mutation_p.R154H|SLIT3_uc010jji.2_Missense_Mutation_p.R154H	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	154					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			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)			GGTGATGCCGCGGAACGCCTT	0.502													T	168310294	C	T	168310294	3	4	120	1	0	0	0	0	1	0	0	0	14741	768	27	1	4238	1	SLIT3	5	168310294	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	167093297	168310294	12604966	13	8075											
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:30954349A>G	uc003nsh.2	+	1	648	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S117G	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.A132V(2)|p.S133R(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612													G	30954349	A	G	30954349	3	3	120	1	0	0	0	0	1	0	0	0	9977	188	7	4	403	4	MUC21	6	30954349	Missense_Mutation	SNP	A	TCGA-12-3650-01A-01D-1495-08		30954349	140160718	14	8076											
TFAP2D	83741	broad.mit.edu	37	6	50696983	50696983	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:50696983C>T	uc003paf.3	+	4	1353	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	281	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			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)					AGCAGGAAGACGGAAAGCAGC	0.423													T	50696983	C	T	50696983	3	4	120	1	0	0	0	0	1	0	0	0	15787	527	19	1	859	1	TFAP2D	6	50696983	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	19742634	50696983	120418084	15	8077											
EPB41L2	2037	broad.mit.edu	37	6	131277174	131277174	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:131277174C>G	uc003qch.2	-	1	634	c.452G>C	c.(451-453)aGc>aCc	p.S151T	EPB41L2_uc010kfl.2_Missense_Mutation_p.S151T|EPB41L2_uc003qcg.1_Missense_Mutation_p.S151T|EPB41L2_uc003qci.3_Missense_Mutation_p.S151T|EPB41L2_uc011eby.2_Missense_Mutation_p.S151T|EPB41L2_uc010kfk.2_Missense_Mutation_p.S151T	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	151					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTTCCTTGCTCACTGAGGG	0.408													G	131277174	C	G	131277174	3	3	120	1	0	0	0	0	1	0	0	0	5153	797	28	5	2637	5	EPB41L2	6	131277174	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	80580191	131277174	39837893	16	8078											
C6orf118	168090	broad.mit.edu	37	6	165715366	165715366	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:165715366C>T	uc003qum.4	-	1	481	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	149										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ACAGCCTCCACTGGAAGGAAA	0.627													T	165715366	C	T	165715366	3	4	120	1	0	0	0	0	1	0	0	0	2323	565	20	3	996	3	C6orf118	6	165715366	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	34438192	165715366	5399701	17	8079											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	120	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		55221822	103916841	18	8080											
EGFR	1956	broad.mit.edu	37	7	55225428	55225428	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:55225428G>T	uc003tqk.3	+	10	1526	c.1280G>T	c.(1279-1281)cGc>cTc	p.R427L	EGFR_uc003tqi.3_Missense_Mutation_p.R427L|EGFR_uc003tqj.3_Missense_Mutation_p.R427L|EGFR_uc022adm.1_Missense_Mutation_p.R427L|EGFR_uc010kzg.2_Missense_Mutation_p.R382L|EGFR_uc022adn.1_Missense_Mutation_p.R382L|EGFR_uc011kco.2_Missense_Mutation_p.R374L|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	427					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAAATCATACGCGGCAGGACC	0.453		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55225428	G	T	55225428	3	4	120	1	0	0	0	0	1	0	0	0	4967	1087	38	5	1333	5	EGFR	7	55225428	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	3606	55225428	103913235	19	8081											
CNPY4	245812	broad.mit.edu	37	7	99717380	99717380	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:99717380C>T	uc003uto.3	+	0	116	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	TAF6_uc003utm.3_5'Flank|TAF6_uc003uti.3_5'Flank|TAF6_uc003utk.3_5'Flank|TAF6_uc011kji.2_5'UTR	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.	5						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGACCTGTGCGGTTGGGAAT	0.542													T	99717380	C	T	99717380	3	4	120	1	0	0	0	0	1	0	0	0	3630	759	27	1	15	1	CNPY4	7	99717380	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	44491952	99717380	59421283	20	8082											
SPDYE6	729597	broad.mit.edu	37	7	101989079	101989079	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:101989079G>T	uc011kkp.2	-	5	1215	c.794C>A	c.(793-795)tCc>tAc	p.S265Y	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	265																	GTTTTGTTTGGAGTCCTCGTC	0.557													T	101989079	G	T	101989079	3	4	120	1	0	0	0	0	1	0	0	0	15032	1174	41	5	422	5	SPDYE6	7	101989079	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	2271699	101989079	57149584	21	8083											
SPAM1	6677	broad.mit.edu	37	7	123594466	123594466	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:123594466G>A	uc003vle.3	+	2	1281	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.R281Q|SPAM1_uc022aks.1_Missense_Mutation_p.R281Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R281Q|SPAM1_uc010lku.3_Missense_Mutation_p.R281Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	281					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GTGCGCAATCGAGTTCGGGAA	0.428													A	123594466	G	A	123594466	3	1	120	1	0	0	0	0	1	0	0	0	14986	1058	37	2	844	2	SPAM1	7	123594466	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	21605387	123594466	35544197	22	8084											
FLNC	2318	broad.mit.edu	37	7	128491526	128491526	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:128491526G>A	uc003vnz.4	+	34	5895	c.5686G>A	c.(5686-5688)Gtg>Atg	p.V1896M	FLNC_uc003voa.4_Missense_Mutation_p.V1863M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1896					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			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						GTCACTGGCCGTGGAGGGCCC	0.622													A	128491526	G	A	128491526	3	1	120	1	0	0	0	0	1	0	0	0	5935	1145	40	1	5824	1	FLNC	7	128491526	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	4897060	128491526	30647137	23	8085											
SLC13A4	26266	broad.mit.edu	37	7	135376342	135376342	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:135376342G>A	uc003vtb.3	-	11	1964	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	SLC13A4_uc003vta.3_Silent_p.L424L|C7orf73_uc003vsz.4_Non-coding_Transcript	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	424						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GAATGAGGAAGAGGAGGAAGC	0.478													A	135376342	G	A	135376342	2	1	120	1	0	0	0	0	0	0	0	1	14394	929	33	3		3	SLC13A4	7	135376342	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	6884816	135376342	23762321	24	8086											
CLU	1191	broad.mit.edu	37	8	27456003	27456003	+	Silent	SNP	C	C	T	rs144959547	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr8:27456003C>T	uc003xfy.2	-	7	1494	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	CLU_uc003xfw.2_Silent_p.A438A|CLU_uc003xfx.2_Silent_p.A438A|CLU_uc003xfz.2_Silent_p.A438A	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	438					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ATTCCTGCAGCGCTTTCTCCG	0.542													T	27456003	C	T	27456003	2	4	120	1	0	0	0	0	0	0	0	1	3568	755	27	1		1	CLU	8	27456003	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		27456003	118908019	25	8087											
ZBTB10	65986	broad.mit.edu	37	8	81431744	81431744	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr8:81431744G>T	uc003ybx.4	+	5	3195	c.2597G>T	c.(2596-2598)tGt>tTt	p.C866F	ZBTB10_uc003ybv.4_Missense_Mutation_p.C574F|ZBTB10_uc003ybw.4_Missense_Mutation_p.C842F|ZBTB10_uc022awq.1_Missense_Mutation_p.C842F|ZBTB10_uc010lzt.3_Missense_Mutation_p.C864F|ZBTB10_uc022awr.1_Non-coding_Transcript	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	Homo sapiens zinc finger and BTB domain containing 10 (ZBTB10), transcript variant 1, mRNA.	866					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GGAGAAGTTTGTATGTCTCTA	0.408													T	81431744	G	T	81431744	3	4	120	1	0	0	0	0	1	0	0	0	17520	1377	48	5	2619	5	ZBTB10	8	81431744	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	53975741	81431744	64932278	26	8088											
TAF1L	138474	broad.mit.edu	37	9	32630679	32630679	+	Silent	SNP	A	A	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:32630679A>T	uc003zrg.1	-	0	4989	c.4899T>A	c.(4897-4899)ctT>ctA	p.L1633L	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1633					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			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)		TATCCTTCTCAAGTTGAGTCA	0.448													T	32630679	A	T	32630679	2	4	120	1	0	0	0	0	0	0	0	1	15520	117	5	5		5	TAF1L	9	32630679	Silent	SNP	A	TCGA-12-3650-01A-01D-1495-08		32630679	108582752	27	8089											
OR13C9	286362	broad.mit.edu	37	9	107379535	107379535	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:107379535G>A	uc011lvr.2	-	0	951	c.951C>T	c.(949-951)agC>agT	p.S317S		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GCATTCACTTGCTAAAGAACC	0.353													A	107379535	G	A	107379535	2	1	120	1	0	0	0	0	0	0	0	1	10939	1310	46	3		3	OR13C9	9	107379535	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	74748856	107379535	33833896	28	8090											
SVEP1	79987	broad.mit.edu	37	9	113173765	113173765	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:113173765G>A	uc010mtz.3	-	36	6563	c.6226C>T	c.(6226-6228)Ccc>Tcc	p.P2076S	SVEP1_uc010mty.3_Missense_Mutation_p.P2S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2076	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATACAACGGGGCATGTCTTGA	0.483													A	113173765	G	A	113173765	3	1	120	1	0	0	0	0	1	0	0	0	15417	1203	42	3	4537	3	SVEP1	9	113173765	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	5794230	113173765	28039666	29	8091											
ADAMTS13	11093	broad.mit.edu	37	9	136302931	136302931	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:136302931G>A	uc004cdv.4	+	12	1942	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D500N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D469N|ADAMTS13_uc004cdw.4_Missense_Mutation_p.D500N|ADAMTS13_uc004cdx.4_Missense_Mutation_p.D469N|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.D170N|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Intron	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	500					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAAGCGTGGAGACAGCTTCCT	0.627													A	136302931	G	A	136302931	3	1	120	1	0	0	0	0	1	0	0	0	258	942	33	3	1548	3	ADAMTS13	9	136302931	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	23129166	136302931	4910500	30	8092											
YME1L1	10730	broad.mit.edu	37	10	27415646	27415646	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:27415646G>A	uc001iti.3	-	9	1309	c.1099C>T	c.(1099-1101)Ctt>Ttt	p.L367F	YME1L1_uc001itj.3_Missense_Mutation_p.L310F|YME1L1_uc010qdl.2_Missense_Mutation_p.L277F	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	367					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTACCTCCAAGAATAGTAAAT	0.274													A	27415646	G	A	27415646	3	1	120	1	0	0	0	0	1	0	0	0	17484	942	33	3	1266	3	YME1L1	10	27415646	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08		27415646	108119101	31	8093											
DRGX	644168	broad.mit.edu	37	10	50599244	50599244	+	Missense_Mutation	SNP	T	T	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:50599244T>G	uc010qgq.2	-	1	113	c.113A>C	c.(112-114)cAg>cCg	p.Q38P	DRGX_uc021pqd.1_Missense_Mutation_p.Q33P	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	38					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q38H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTTCCGGCGCTGTTTTCTACG	0.507													G	50599244	T	G	50599244	3	3	120	1	0	0	0	0	1	0	0	0	4763	1580	55	5	712	5	DRGX	10	50599244	Missense_Mutation	SNP	T	TCGA-12-3650-01A-01D-1495-08	23183598	50599244	84935503	32	8094											
MUC5B	727897	broad.mit.edu	37	11	1274084	1274084	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:1274084G>A	uc001lta.3	+	32	15150	c.15091G>A	c.(15091-15093)Gtg>Atg	p.V5031M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5031					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCAGGTGCGTGGGTGACAA	0.632													A	1274084	G	A	1274084	3	1	120	1	0	0	0	0	1	0	0	0	9979	1145	40	1	15230	1	MUC5B	11	1274084	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08		1274084	133732432	33	8095											
MS4A1	931	broad.mit.edu	37	11	60231772	60231772	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:60231772C>T	uc009yna.3	+	3	618	c.291C>T	c.(289-291)tcC>tcT	p.S97S	MS4A1_uc009ymy.1_3'UTR|MS4A1_uc009ymz.3_Silent_p.S97S|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Silent_p.S97S|MS4A1_uc001npq.3_Silent_p.S97S	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	97					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATATTATTTCCGGATCACTCC	0.438													T	60231772	C	T	60231772	2	4	120	1	0	0	0	0	0	0	0	1	9854	639	23	2		2	MS4A1	11	60231772	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	58957688	60231772	74774744	34	8096											
PC	5091	broad.mit.edu	37	11	66637883	66637883	+	Missense_Mutation	SNP	A	A	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:66637883A>C	uc001ojn.1	-	6	842	c.793T>G	c.(793-795)Tgc>Ggc	p.C265G	PC_uc001ojo.1_Missense_Mutation_p.C265G|PC_uc001ojp.1_Missense_Mutation_p.C265G	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	265	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGGATGGAGCAGTCTCGCTCG	0.602													C	66637883	A	C	66637883	3	2	120	1	0	0	0	0	1	0	0	0	11497	188	7	5	2803	5	PC	11	66637883	Missense_Mutation	SNP	A	TCGA-12-3650-01A-01D-1495-08	6406111	66637883	68368633	35	8097											
IQSEC3	440073	broad.mit.edu	37	12	247990	247990	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:247990C>T	uc001qhw.2	+	3	1461	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	IQSEC3_uc001qhu.1_Silent_p.D184D|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	487					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.N487K(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)		CTTTCCGGGACGTCACGGTGC	0.731													T	247990	C	T	247990	2	4	120	1	0	0	0	0	0	0	0	1	7819	535	19	1		1	IQSEC3	12	247990	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		247990	133603905	36	8098											
APOBEC1	339	broad.mit.edu	37	12	7805403	7805403	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:7805403C>T	uc001qtb.3	-	2	107	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	APOBEC1_uc001qtc.3_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	25					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCATAGAAGACGTCAAACTCC	0.483													T	7805403	C	T	7805403	3	4	120	1	0	0	0	0	1	0	0	0	787	536	19	1	649	1	APOBEC1	12	7805403	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	7557413	7805403	126046492	37	8099											
PKP2	5318	broad.mit.edu	37	12	33031888	33031888	+	Missense_Mutation	SNP	C	C	T	rs149542398	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:33031888C>T	uc001rlj.4	-	1	417	c.302G>A	c.(301-303)cGt>cAt	p.R101H	PKP2_uc001rlk.4_Missense_Mutation_p.R101H|PKP2_uc010skj.2_Missense_Mutation_p.R101H	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACAGGGGAACGGCCTCCAAC	0.378													T	33031888	C	T	33031888	3	4	120	1	0	0	0	0	1	0	0	0	11985	536	19	1	2395	1	PKP2	12	33031888	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	25226485	33031888	100820007	38	8100											
PDZRN4	29951	broad.mit.edu	37	12	41967460	41967460	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:41967460G>A	uc010skn.2	+	9	2887	c.2879G>A	c.(2878-2880)cGt>cAt	p.R960H	PDZRN4_uc001rmq.4_Missense_Mutation_p.R702H|PDZRN4_uc009zjz.3_Missense_Mutation_p.R700H|PDZRN4_uc001rmr.3_Missense_Mutation_p.R587H	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	960	Poly-Arg.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGCCGTCGCCGTGAGTTCATG	0.527													A	41967460	G	A	41967460	3	1	120	1	0	0	0	0	1	0	0	0	11710	1145	40	1	2990	1	PDZRN4	12	41967460	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	8935572	41967460	91884435	39	8101											
ORAI1	84876	broad.mit.edu	37	12	122079482	122079482	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:122079482C>T	uc021rff.1	+	1	1038	c.845C>T	c.(844-846)gCc>gTc	p.A282V		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	280					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GCGGAGTTTGCCCGCTTACAG	0.607													T	122079482	C	T	122079482	3	4	120	1	0	0	0	0	1	0	0	0	11257	739	26	3	851	3	ORAI1	12	122079482	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	80112022	122079482	11772413	40	8102											
FOXO1	2308	broad.mit.edu	37	13	41134348	41134348	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr13:41134348C>A	uc001uxl.4	-	1	1665	c.1280G>T	c.(1279-1281)gGc>gTc	p.G427V	FOXO1_uc010acc.1_Missense_Mutation_p.G242V	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	427					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GCTGGATTGGCCATATGTATA	0.488													A	41134348	C	A	41134348	3	1	120	1	0	0	0	0	1	0	0	0	6023	739	26	5	691	5	FOXO1	13	41134348	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		41134348	74035530	41	8103											
CSPG4	1464	broad.mit.edu	37	15	75974722	75974722	+	Missense_Mutation	SNP	C	C	T	rs143855050	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:75974722C>T	uc002baw.3	-	7	4955	c.4862G>A	c.(4861-4863)cGt>cAt	p.R1621H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1621	Cysteine-containing.|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			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCGCACCACACGGTAGAGCAG	0.662													T	75974722	C	T	75974722	3	4	120	1	0	0	0	0	1	0	0	0	3960	536	19	1	2118	1	CSPG4	15	75974722	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		75974722	26556670	42	8104											
CHRNB4	1143	broad.mit.edu	37	15	78921864	78921864	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:78921864G>A	uc002bed.1	-	4	895	c.783C>T	c.(781-783)ggC>ggT	p.G261G	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.G79G	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	261					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCATCTTCTCGCCGCAGTCGG	0.567													A	78921864	G	A	78921864	2	1	120	1	0	0	0	0	0	0	0	1	3393	1074	38	1		1	CHRNB4	15	78921864	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	2947142	78921864	23609528	43	8105											
CACNG3	10368	broad.mit.edu	37	16	24372858	24372858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:24372858C>T	uc002dmf.3	+	3	1824	c.622C>T	c.(622-624)Cga>Tga	p.R208*		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	208					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TCAGCAGTTACGAGCCAAATC	0.488													T	24372858	C	T	24372858	4	4	120	1	0	0	0	0	0	1	0	0	2558	528	19	1	636	1	CACNG3	16	24372858	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		24372858	65981895	44	8106											
ABCC11	85320	broad.mit.edu	37	16	48210869	48210869	+	Silent	SNP	G	G	A	rs143002804		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:48210869G>A	uc002eff.1	-	23	3854	c.3504C>T	c.(3502-3504)caC>caT	p.H1168H	ABCC11_uc002efg.1_Silent_p.H1168H|ABCC11_uc002efh.1_Silent_p.H1168H|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1168	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H1168H(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCACCACTTCGTGGCCGCGGA	0.562													A	48210869	G	A	48210869	2	1	120	1	0	0	0	0	0	0	0	1	51	1136	40	1		1	ABCC11	16	48210869	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	23838011	48210869	42143884	45	8107											
MAPK7	5598	broad.mit.edu	37	17	19284297	19284297	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:19284297C>T	uc002gvn.3	+	3	1161	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Missense_Mutation_p.R120C|MAPK7_uc002gvq.3_Missense_Mutation_p.R259C|MAPK7_uc002gvp.3_Missense_Mutation_p.R259C	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	259	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCTGGCCCGGCGCCAGCTCTT	0.567													T	19284297	C	T	19284297	3	4	120	1	0	0	0	0	1	0	0	0	9282	768	27	1	785	1	MAPK7	17	19284297	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		19284297	61910913	46	8108											
GAS2L2	246176	broad.mit.edu	37	17	34072485	34072485	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:34072485C>T	uc002hjv.2	-	5	2059	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	677					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGAGCCAGTCGGGGCTGCCT	0.612													T	34072485	C	T	34072485	2	4	120	1	0	0	0	0	0	0	0	1	6247	871	31	2		2	GAS2L2	17	34072485	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	14788188	34072485	47122725	47	8109											
LHX1	3975	broad.mit.edu	37	17	35297618	35297618	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:35297618C>G	uc002hnh.2	+	1	925	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	LHX1_uc010cux.1_5'UTR	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	68	LIM zinc-binding 2.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGCTGCGCTCAGGGCATCTC	0.652													G	35297618	C	G	35297618	3	3	120	1	0	0	0	0	1	0	0	0	8770	827	29	5	208	5	LHX1	17	35297618	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	1225133	35297618	45897592	48	8110											
JUP	3728	broad.mit.edu	37	17	39919367	39919367	+	Silent	SNP	G	G	A	rs77375949	by1000genomes	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:39919367G>A	uc002hxq.2	-	7	1642	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.A455A|JUP_uc002hxs.2_Silent_p.A455A	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	455					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GAGCGCAGACGGCAGGCTCCG	0.607													A	39919367	G	A	39919367	2	1	120	1	0	0	0	0	0	0	0	1	7972	1103	39	2		2	JUP	17	39919367	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	4621749	39919367	41275843	49	8111											
HOXB1	3211	broad.mit.edu	37	17	46607745	46607745	+	Silent	SNP	G	G	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:46607745G>T	uc002ink.1	-	0	528	c.522C>A	c.(520-522)acC>acA	p.T174T	HOXB1_uc021tzf.1_Silent_p.T174T	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	174						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCGTGGGGGTGTTAGGTT	0.592													T	46607745	G	T	46607745	2	4	120	1	0	0	0	0	0	0	0	1	7299	1219	43	5		5	HOXB1	17	46607745	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	6688378	46607745	34587465	50	8112											
KIF19	124602	broad.mit.edu	37	17	72342551	72342551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:72342551delC	uc002jkm.4	+	7	950	c.812delC	c.(811-813)gccfs	p.A271fs	KIF19_uc002jkj.2_Frame_Shift_Del_p.A271fs|KIF19_uc002jkk.2_Frame_Shift_Del_p.A229fs|KIF19_uc002jkl.2_Frame_Shift_Del_p.A229fs	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	271	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGGAGGGGGCCCACATCAAC	0.597													-	72342551	C	-	72342551	7	5	120	1	0	1	0	1	0	0	0	0	8282	739	26	0	842	0	KIF19	17	72342551	Frame_Shift_Del	DEL	C	TCGA-12-3650-01A-01D-1495-08	25734806	72342551	8852659	51	8113											
CD300C	10871	broad.mit.edu	37	17	72539125	72539125	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:72539125G>A	uc002jky.1	-	3	762	c.401_splice	c.e3-1	p.A134_splice		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	134	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGGTCGTCCCGGCTGTGGGTG	0.577													A	72539125	G	A	72539125	2	1	120	1	0	0	0	0	0	0	0	1	2997	1130	39	2		2	CD300C	17	72539125	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	196574	72539125	8656085	52	8114											
C18orf21	83608	broad.mit.edu	37	18	33554930	33554930	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr18:33554930C>T	uc002kzc.3	+	2	276	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	C18orf21_uc002kzd.3_5'UTR|C18orf21_uc021uit.1_Missense_Mutation_p.R58C|C18orf21_uc021uiu.1_5'UTR	NM_031446	NP_001188404	Q32NC0	CR021_HUMAN	Homo sapiens chromosome 18 open reading frame 21 (C18orf21), transcript variant 1, mRNA.	58										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						CTCTCGAGTGCGTCTCAAACC	0.373													T	33554930	C	T	33554930	3	4	120	1	0	0	0	0	1	0	0	0	1897	768	27	1	182	1	C18orf21	18	33554930	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		33554930	44522318	53	8115											
MUC16	94025	broad.mit.edu	37	19	9062926	9062926	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:9062926C>T	uc002mkp.3	-	2	24724	c.24520G>A	c.(24520-24522)Gtg>Atg	p.V8174M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8176	Ser-rich.|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						TCTGGTGACACTGTGAGCTGA	0.502													T	9062926	C	T	9062926	3	4	120	1	0	0	0	0	1	0	0	0	9973	565	20	3	19331	3	MUC16	19	9062926	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		9062926	50066057	54	8116											
TMEM38A	79041	broad.mit.edu	37	19	16790904	16790904	+	Silent	SNP	C	C	T	rs144587502		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:16790904C>T	uc002nes.3	+	1	325	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	78						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGCCACTGATCGATTACTTCA	0.602													T	16790904	C	T	16790904	2	4	120	1	0	0	0	0	0	0	0	1	16156	874	31	2		2	TMEM38A	19	16790904	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	7727978	16790904	42338079	55	8117											
CCNE1	898	broad.mit.edu	37	19	30313489	30313489	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:30313489C>G	uc002nsn.3	+	10	1272	c.1089C>G	c.(1087-1089)caC>caG	p.H363Q	CCNE1_uc002nso.3_Missense_Mutation_p.H348Q	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	363					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	p.T362A(1)|p.H363N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TACAGACCCACAGAGACAGCT	0.507			A		serous ovarian								G	30313489	C	G	30313489	3	3	120	1	0	0	0	0	1	0	0	0	2920	477	17	5	1127	5	CCNE1	19	30313489	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	13522585	30313489	28815494	56	8118											
ZNF569	148266	broad.mit.edu	37	19	37904887	37904887	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:37904887G>C	uc002ogj.3	-	8	1677	c.745C>G	c.(745-747)Cac>Gac	p.H249D	ZNF569_uc002ogh.3_Missense_Mutation_p.H66D|ZNF569_uc002ogi.3_Missense_Mutation_p.H225D	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)			TTTTCCTTGTGACTGAAGGCT	0.348													C	37904887	G	C	37904887	3	2	120	1	0	0	0	0	1	0	0	0	17997	1290	45	5	1391	5	ZNF569	19	37904887	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	7591398	37904887	21224096	57	8119											
EML2	24139	broad.mit.edu	37	19	46116829	46116829	+	Silent	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:46116829G>A	uc010xxm.2	-	20	2470	c.2397C>T	c.(2395-2397)caC>caT	p.H799H	EML2_uc002pcn.3_Silent_p.H598H|EML2_uc002pcp.3_Silent_p.H482H|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.H745H	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	598					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGCTAAACAGGTGAACTTTGC	0.582													A	46116829	G	A	46116829	2	1	120	1	0	0	0	0	0	0	0	1	5097	1252	44	3		3	EML2	19	46116829	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	8211942	46116829	13012154	58	8120											
HCK	3055	broad.mit.edu	37	20	30681787	30681787	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:30681787T>C	uc002wxh.3	+	10	1451	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A	HCK_uc010gdy.3_Missense_Mutation_p.V385A|HCK_uc021wbv.1_Missense_Mutation_p.V384A|HCK_uc002wxi.3_Missense_Mutation_p.V383A	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	405	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A404D(1)|p.P405S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGGCCCGGGTCATTGAGGAC	0.552													C	30681787	T	C	30681787	3	2	120	1	0	0	0	0	1	0	0	0	6994	1667	58	4	1262	4	HCK	20	30681787	Missense_Mutation	SNP	T	TCGA-12-3650-01A-01D-1495-08		30681787	32343733	59	8121											
C20orf132	140699	broad.mit.edu	37	20	35752057	35752057	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:35752057C>T	uc010zvu.2	-	15	2022	c.1931G>A	c.(1930-1932)gGc>gAc	p.G644D	C20orf132_uc002xgk.3_Missense_Mutation_p.G276D	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	55										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TGTGTACAGGCCACTTGGGAT	0.488													T	35752057	C	T	35752057	3	4	120	1	0	0	0	0	1	0	0	0	2086	739	26	3	1237	3	C20orf132	20	35752057	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	5070270	35752057	27273463	60	8122											
HNF4A	3172	broad.mit.edu	37	20	43042366	43042366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:43042366C>T	uc002xma.3	+	3	507	c.418C>T	c.(418-420)Cga>Tga	p.R140*	HNF4A_uc002xlt.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xlu.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xlv.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xly.3_Nonsense_Mutation_p.R140*|HNF4A_uc010ggq.3_Nonsense_Mutation_p.R133*|HNF4A_uc002xlz.3_Nonsense_Mutation_p.R140*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	140					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATCAGCACTCGAAGGTCAAG	0.632													T	43042366	C	T	43042366	4	4	120	1	0	0	0	0	0	1	0	0	7253	876	31	2	485	2	HNF4A	20	43042366	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	7290309	43042366	19983154	61	8123											
ASMT	438	broad.mit.edu	37	X	1746635	1746635	+	Silent	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:1746635C>T	uc004cqd.3	+	4	630	c.414C>T	c.(412-414)ccC>ccT	p.P138P	ASMT_uc010ncy.3_Silent_p.P138P|ASMT_uc004cqe.3_Silent_p.P138P	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	138					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			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)				TTGGCGTTCCCGCTGAAGAGC	0.388													T	1746635	C	T	1746635	2	4	120	1	0	0	0	0	0	0	0	1	1045	639	23	2		2	ASMT	23	1746635	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		1746635	153523925	62	8124											
FIGF	2277	broad.mit.edu	37	X	15381369	15381369	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:15381369G>A	uc004cwt.2	-	1	630	c.163C>T	c.(163-165)Cga>Tga	p.R55*	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	55					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGAGTAATTCGAAGTAGTTCC	0.453													A	15381369	G	A	15381369	4	1	120	1	0	0	0	0	0	1	0	0	5889	1066	37	2	925	2	FIGF	23	15381369	Nonsense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	13634734	15381369	139889191	63	8125											
KIAA1210	57481	broad.mit.edu	37	X	118221675	118221675	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:118221675C>T	uc004era.4	-	10	3518	c.3518G>A	c.(3517-3519)cGa>cAa	p.R1173Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1173										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTCTCTAGTCGTGAGGTCAT	0.468													T	118221675	C	T	118221675	3	4	120	1	0	0	0	0	1	0	0	0	8214	884	31	2	1627	2	KIAA1210	23	118221675	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	102840306	118221675	37048885	64	8126											
FLNA	2316	broad.mit.edu	37	X	153588591	153588591	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:153588591G>A	uc004fkk.2	-	21	3821	c.3572C>T	c.(3571-3573)gCg>gTg	p.A1191V	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.A1191V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1191					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCAGCTCCGCGCTGCCCGC	0.642											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	153588591	G	A	153588591	3	1	120	1	0	0	0	0	1	0	0	0	5933	1087	38	1	4479	1	FLNA	23	153588591	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	35366916	153588591	1681969	65	8127											
RAB39B	116442	broad.mit.edu	37	X	154490213	154490213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:154490213C>A	uc004fne.3	-	1	796	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	173					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTAACCAGCTCATATATGTCT	0.473													A	154490213	C	A	154490213	4	1	120	1	0	0	0	0	0	1	0	0	12930	835	29	5	128	5	RAB39B	23	154490213	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	901622	154490213	780347	66	8128											
ARHGEF16	27237	broad.mit.edu	37	1	3394457	3394457	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:3394457G>A	uc001akg.4	+	10	1740	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ARHGEF16_uc001aki.3_Missense_Mutation_p.A210T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A210T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A202T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	498					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGATCTCTGCCTCCCGGTG	0.622													A	3394457	G	A	3394457	3	1	121	1	0	0	0	0	1	0	0	0	899	1319	46	3	1530	3	ARHGEF16	1	3394457	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		3394457	245856164	1	8129											
ADCY10	55811	broad.mit.edu	37	1	167814945	167814945	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:167814945G>A	uc001ger.3	-	20	3161	c.2863C>T	c.(2863-2865)Cgc>Tgc	p.R955C	ADCY10_uc010plj.2_Missense_Mutation_p.R802C|ADCY10_uc009wvk.3_Missense_Mutation_p.R863C|ADCY10_uc009wvl.3_Missense_Mutation_p.R954C	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	955					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCTAAAAAGCGGGCACATTTC	0.488													A	167814945	G	A	167814945	3	1	121	1	0	0	0	0	1	0	0	0	293	1116	39	2	2021	2	ADCY10	1	167814945	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	164420488	167814945	81435676	2	8130											
KIAA1614	57710	broad.mit.edu	37	1	180904433	180904433	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:180904433G>A	uc001gok.2	+	4	1455	c.1388G>A	c.(1387-1389)cGt>cAt	p.R463H	KIAA1614_uc001gol.1_Missense_Mutation_p.R84H|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	463										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCGAGTTCCGTCACCTGGAG	0.731													A	180904433	G	A	180904433	3	1	121	1	0	0	0	0	1	0	0	0	8248	1145	40	1	1406	1	KIAA1614	1	180904433	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	13089488	180904433	68346188	3	8131											
GLUL	2752	broad.mit.edu	37	1	182356407	182356407	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:182356407C>T	uc001gpa.2	-	2	430	c.187G>A	c.(187-189)Gat>Aat	p.D63N	GLUL_uc010pnt.2_5'Flank|GLUL_uc001gpb.2_Missense_Mutation_p.D63N|GLUL_uc001gpc.2_Missense_Mutation_p.D63N|GLUL_uc001gpd.2_Missense_Mutation_p.D63N	NM_001033056	NP_002056	P15104	GLNA_HUMAN	Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA.	63					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	CTAGAGCCATCGAAATTCCAC	0.473													T	182356407	C	T	182356407	3	4	121	1	0	0	0	0	1	0	0	0	6478	884	31	2	954	2	GLUL	1	182356407	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	1451974	182356407	66894214	4	8132											
RAB3GAP2	25782	broad.mit.edu	37	1	220359030	220359030	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:220359030G>A	uc010puk.1	-	17	1997	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	RAB3GAP2_uc021pjf.1_Silent_p.N611N|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Silent_p.N191N	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	611					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGAGTGATGTTTCTAAGGC	0.333													A	220359030	G	A	220359030	2	1	121	1	0	0	0	0	0	0	0	1	12936	1368	48	3		3	RAB3GAP2	1	220359030	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	38002623	220359030	28891591	5	8133											
HLX	3142	broad.mit.edu	37	1	221057616	221057616	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:221057616A>G	uc001hmv.4	+	3	1494	c.1037A>G	c.(1036-1038)gAg>gGg	p.E346G		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	346					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		AAGGACAAGGAGGCTGGCGAG	0.667													G	221057616	A	G	221057616	3	3	121	1	0	0	0	0	1	0	0	0	7216	304	11	4	1051	4	HLX	1	221057616	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08	698586	221057616	28193005	6	8134											
HHIPL2	79802	broad.mit.edu	37	1	222705452	222705452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:222705452G>A	uc001hnh.1	-	6	1636	c.1578_splice	c.e6-1	p.G526_splice		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	526					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCATAAGTCGACTAGACAAA	0.438													A	222705452	G	A	222705452	4	1	121	1	0	0	0	0	0	1	0	0	7094	1072	37	2	611	2	HHIPL2	1	222705452	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	1647836	222705452	26545169	7	8135											
RYR2	6262	broad.mit.edu	37	1	237787140	237787151	+	In_Frame_Del	DEL	GATTTCCATGAA	GATTTCCATGAA	-			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:237787140_237787151delGATTTCCATGAA	uc001hyl.1	+	38	6112_6123	c.5992_6003delGATTTCCATGAA	c.(5992-6003)gatttccatgaadel	p.DFHE1998del		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1998	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			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)			CCAACTATTGGATTTCCATGAAGATTTGATGA	0.307													-	237787151	GATTTCCATGAA	-	237787140	7	5	121	1	0	1	0	1	0	0	0	0	13769	1174	41	0	6146	0	RYR2	1	237787140	In_Frame_Del	DEL	GATTTCCATGAA	TCGA-12-3652-01A-01D-1495-08	15081688	237787140	11463481	8	8136											
RYR2	6262	broad.mit.edu	37	1	237947552	237947552	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:237947552C>T	uc001hyl.1	+	89	12660	c.12540C>T	c.(12538-12540)ggC>ggT	p.G4180G	RYR2_uc010pya.2_Silent_p.G595G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4180					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			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)			TCAACGAAGGCGGAGAGAAAG	0.502													T	237947552	C	T	237947552	2	4	121	1	0	0	0	0	0	0	0	1	13769	755	27	1		1	RYR2	1	237947552	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	160412	237947552	11303069	9	8137											
ALMS1	7840	broad.mit.edu	37	2	73677648	73677648	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr2:73677648A>G	uc002sje.1	+	7	4102	c.3991A>G	c.(3991-3993)Act>Gct	p.T1331A	ALMS1_uc002sjf.1_Missense_Mutation_p.T1289A|ALMS1_uc002sjg.3_Missense_Mutation_p.T719A|ALMS1_uc002sjh.1_Missense_Mutation_p.T719A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1331	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTACCCTCTACTTTCTACTC	0.453													G	73677648	A	G	73677648	3	3	121	1	0	0	0	0	1	0	0	0	535	391	14	4	4021	4	ALMS1	2	73677648	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08		73677648	169521725	10	8138											
INPP1	3628	broad.mit.edu	37	2	191236128	191236128	+	Nonstop_Mutation	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr2:191236128G>C	uc002ury.4	+	6	1900	c.1200G>C	c.(1198-1200)taG>taC	p.*400Y	INPP1_uc010fsb.3_Nonstop_Mutation_p.*400Y|INPP1_uc002urx.4_Nonstop_Mutation_p.*400Y	NM_001128928	NP_002185	P49441	INPP_HUMAN	Homo sapiens inositol polyphosphate-1-phosphatase (INPP1), transcript variant 1, mRNA.	0					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	CGCATACCTAGAGGAACTCTA	0.493													C	191236128	G	C	191236128	4	2	121	1	0	0	0	0	0	0	0	0	7751	937	33	5	1218	5	INPP1	2	191236128	Nonstop_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	117558480	191236128	51963245	11	8139											
CAV3	859	broad.mit.edu	37	3	8787341	8787341	+	Missense_Mutation	SNP	G	G	A	rs112626848		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:8787341G>A	uc003bra.3	+	1	321	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.V82I	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	82	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCTGCTGGGCGTCCCACTGGC	0.587													A	8787341	G	A	8787341	3	1	121	1	0	0	0	0	1	0	0	0	2695	1145	40	1	250	1	CAV3	3	8787341	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		8787341	189235089	12	8140											
RPL32	6161	broad.mit.edu	37	3	12880946	12880946	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:12880946A>G	uc003bxl.3	-	1	393	c.180T>C	c.(178-180)taT>taC	p.Y60Y	RPL32_uc003bxm.3_Silent_p.Y60Y|RPL32_uc003bxn.3_Silent_p.Y60Y	NM_001007074	NP_001007075	P62910	RL32_HUMAN	Homo sapiens ribosomal protein L32 (RPL32), transcript variant 3, mRNA.	60					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGTTGCTTCCATAACCAATGT	0.483													G	12880946	A	G	12880946	2	3	121	1	0	0	0	0	0	0	0	1	13582	224	8	4		4	RPL32	3	12880946	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	4093605	12880946	185141484	13	8141											
IQSEC1	9922	broad.mit.edu	37	3	12977752	12977752	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:12977752G>A	uc003bxt.2	-	2	815	c.806C>T	c.(805-807)cCg>cTg	p.P269L	IQSEC1_uc003bxu.3_Missense_Mutation_p.P147L|IQSEC1_uc011auw.1_Missense_Mutation_p.P255L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	269					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCCAGGGCCGGTGCCTCCTC	0.642													A	12977752	G	A	12977752	3	1	121	1	0	0	0	0	1	0	0	0	7817	1116	39	2	2678	2	IQSEC1	3	12977752	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	96806	12977752	185044678	14	8142											
ZNF385D	79750	broad.mit.edu	37	3	21606168	21606168	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:21606168C>T	uc003cce.3	-	2	582	c.174G>A	c.(172-174)ccG>ccA	p.P58P	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	58						nucleus	nucleic acid binding|zinc ion binding	p.P58T(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTCTGAATCGGGTCCATCT	0.358													T	21606168	C	T	21606168	2	4	121	1	0	0	0	0	0	0	0	1	17875	871	31	2		2	ZNF385D	3	21606168	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	8628416	21606168	176416262	15	8143											
PRR23A	729627	broad.mit.edu	37	3	138724917	138724917	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:138724917G>A	uc011bms.2	-	0	194	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	65										endometrium(3)|kidney(1)|lung(7)	11						GGCACAGCCCGCGGCCAGGAC	0.721													A	138724917	G	A	138724917	3	1	121	1	0	0	0	0	1	0	0	0	12594	1087	38	1	610	1	PRR23A	3	138724917	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	117118749	138724917	59297513	16	8144											
MUC4	4585	broad.mit.edu	37	3	195515160	195515160	+	Silent	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:195515160T>C	uc021xjp.1	-	1	3447	c.3291A>G	c.(3289-3291)gcA>gcG	p.A1097A	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	964					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		GACCTGTGGATGCTGAGGAAG	0.572													C	195515160	T	C	195515160	2	2	121	1	0	0	0	0	0	0	0	1	9978	1451	51	4		4	MUC4	3	195515160	Silent	SNP	T	TCGA-12-3652-01A-01D-1495-08	56790243	195515160	2507270	17	8145											
MAN2B2	23324	broad.mit.edu	37	4	6578364	6578364	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:6578364C>T	uc003gjf.1	+	1	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_uc003gje.1_Silent_p.R66R|MAN2B2_uc011bwf.1_Silent_p.R66R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	66					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGCTGGCCCGCGGCCAGCAGC	0.627													T	6578364	C	T	6578364	2	4	121	1	0	0	0	0	0	0	0	1	9217	755	27	1		1	MAN2B2	4	6578364	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08		6578364	184575912	18	8146											
PCDH7	5099	broad.mit.edu	37	4	30726111	30726111	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:30726111G>T	uc003gsk.1	+	0	4075	c.3067G>T	c.(3067-3069)Gat>Tat	p.D1023Y	PCDH7_uc011bxx.2_Missense_Mutation_p.D1023Y|PCDH7_uc021xnd.1_Missense_Mutation_p.D1023Y|PCDH7_uc021xnc.1_Missense_Mutation_p.D1023Y	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	1023					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGCCGTACAAGATCTACCACC	0.468													T	30726111	G	T	30726111	3	4	121	1	0	0	0	0	1	0	0	0	11516	942	33	5	3069	5	PCDH7	4	30726111	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	24147747	30726111	160428165	19	8147											
KLB	152831	broad.mit.edu	37	4	39435838	39435838	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:39435838G>A	uc003gua.3	+	1	931	c.834G>A	c.(832-834)tcG>tcA	p.S278S	KLB_uc011byj.2_Silent_p.S278S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	278	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGGCTCACTCGAAAGTTTGGC	0.413													A	39435838	G	A	39435838	2	1	121	1	0	0	0	0	0	0	0	1	8332	1045	37	2		2	KLB	4	39435838	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	8709727	39435838	151718438	20	8148											
NPFFR2	10886	broad.mit.edu	37	4	73012972	73012972	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:73012972G>T	uc003hgg.2	+	3	1110	c.1012G>T	c.(1012-1014)Gtc>Ttc	p.V338F	NPFFR2_uc010iig.2_Missense_Mutation_p.V120F|NPFFR2_uc003hgi.2_Missense_Mutation_p.V239F|NPFFR2_uc003hgh.2_Missense_Mutation_p.V236F	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	338					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTCCCTCATTGTCATCATGTA	0.517													T	73012972	G	T	73012972	3	4	121	1	0	0	0	0	1	0	0	0	10578	1377	48	5	1032	5	NPFFR2	4	73012972	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	33577134	73012972	118141304	21	8149											
FAM190A	7117	broad.mit.edu	37	4	91760137	91760137	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:91760137G>C	uc003hsv.4	+						FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.3_Intron	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.											NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GTCTTCTTCAGTTTCGGCTTA	0.522													C	91760137	G	C	91760137	3	2	121	1	0	0	0	0	1	0	0	0	5521	1020	36	5		5	FAM190A	4	91760137	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	18747165	91760137	99394139	22	8150											
CFI	3426	broad.mit.edu	37	4	110663746	110663746	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:110663746C>T	uc011cft.2	-	12	1667	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	CFI_uc003hzq.3_Missense_Mutation_p.E276K|CFI_uc003hzr.4_Missense_Mutation_p.E479K	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	479	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AAGACTCTTTCGTTATCTAAA	0.338													T	110663746	C	T	110663746	3	4	121	1	0	0	0	0	1	0	0	0	3289	893	31	2	324	2	CFI	4	110663746	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	18903609	110663746	80490530	23	8151											
FAT1	2195	broad.mit.edu	37	4	187541102	187541102	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:187541102T>A	uc003izf.3	-	9	6826	c.6638A>T	c.(6637-6639)aAa>aTa	p.K2213I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2213	Cadherin 20.				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			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						GTAGAACACTTTCAGGCCTTC	0.498										HNSCC(5;0.00058)			A	187541102	T	A	187541102	3	1	121	1	0	0	0	0	1	0	0	0	5689	1841	64	5	7200	5	FAT1	4	187541102	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	76877356	187541102	3613174	24	8152											
CDH9	1007	broad.mit.edu	37	5	26902769	26902769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:26902769G>A	uc003jgs.1	-	6	1238	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTAAGAATCGTGGATCAGGG	0.358													A	26902769	G	A	26902769	4	1	121	1	0	0	0	0	0	1	0	0	3117	1153	40	1	1324	1	CDH9	5	26902769	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		26902769	154012491	25	8153											
MTX3	345778	broad.mit.edu	37	5	79284387	79284387	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:79284387C>G	uc010jag.3	-	4	429	c.402G>C	c.(400-402)ttG>ttC	p.L134F	MTX3_uc010jah.3_Missense_Mutation_p.L134F|MTX3_uc003kge.4_Missense_Mutation_p.L73F|MTX3_uc003kgf.1_5'Flank	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	134					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GGATCAAACTCAAAGGAAAAG	0.453													G	79284387	C	G	79284387	3	3	121	1	0	0	0	0	1	0	0	0	9969	825	29	5	556	5	MTX3	5	79284387	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	52381618	79284387	101630873	26	8154											
GPR98	84059	broad.mit.edu	37	5	89943466	89943466	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:89943466A>G	uc003kju.3	+	16	3270	c.3174A>G	c.(3172-3174)ggA>ggG	p.G1058G	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1058	Calx-beta 8.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAAAAGGAGAAACGCTCA	0.413													G	89943466	A	G	89943466	2	3	121	1	0	0	0	0	0	0	0	1	6721	291	11	4		4	GPR98	5	89943466	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	10659079	89943466	90971794	27	8155											
PCDHAC2	56137	broad.mit.edu	37	5	140256668	140256668	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:140256668G>A	uc003lic.2	+	0	1738	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A537A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687													A	140256668	G	A	140256668	2	1	121	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140256668	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	50313202	140256668	40658592	28	8156											
SIM1	6492	broad.mit.edu	37	6	100838896	100838896	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:100838896G>A	uc003pqj.4	-	10	2109	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	SIM1_uc021zdg.1_Nonsense_Mutation_p.R548*|SIM1_uc010kcu.3_Nonsense_Mutation_p.R548*	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	548	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTACGATATCGGTCACCTGAT	0.428													A	100838896	G	A	100838896	4	1	121	1	0	0	0	0	0	1	0	0	14323	1124	39	2	662	2	SIM1	6	100838896	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		100838896	70276171	29	8157											
RFX6	222546	broad.mit.edu	37	6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:117246619C>T	uc003pxm.3	+	15	1745	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	561					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.A561V(6)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGATGCGAGTAAAGCT	0.393													T	117246619	C	T	117246619	3	4	121	1	0	0	0	0	1	0	0	0	13267	768	27	1	1744	1	RFX6	6	117246619	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	16407723	117246619	53868448	30	8158											
SHPRH	257218	broad.mit.edu	37	6	146215353	146215353	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:146215353A>G	uc003qlf.3	-	26	5027	c.4628T>C	c.(4627-4629)aTt>aCt	p.I1543T	SHPRH_uc003qle.3_Missense_Mutation_p.I1547T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1543	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTTGAAATAATATCTAATAC	0.313													G	146215353	A	G	146215353	3	3	121	1	0	0	0	0	1	0	0	0	14291	101	4	4	456	4	SHPRH	6	146215353	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08	28968734	146215353	24899714	31	8159											
SMOC2	64094	broad.mit.edu	37	6	169064764	169064764	+	Silent	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:169064764T>C	uc003qwr.2	+	11	1549	c.1329T>C	c.(1327-1329)ggT>ggC	p.G443G	SMOC2_uc003qws.2_Silent_p.G432G|SMOC2_uc011egu.2_Silent_p.G109G	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	432					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCCCCAGAGGTCATGCTGAAA	0.299													C	169064764	T	C	169064764	2	2	121	1	0	0	0	0	0	0	0	1	14802	1654	58	4		4	SMOC2	6	169064764	Silent	SNP	T	TCGA-12-3652-01A-01D-1495-08	22849411	169064764	2050303	32	8160											
NOD1	10392	broad.mit.edu	37	7	30492365	30492365	+	Missense_Mutation	SNP	C	C	T	rs139576372		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:30492365C>T	uc003tav.3	-	5	1191	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	NOD1_uc010kvs.2_Intron	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	223	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGCGTCTAGCCGGCCCGTGGC	0.577													T	30492365	C	T	30492365	3	4	121	1	0	0	0	0	1	0	0	0	10516	652	23	2	2229	2	NOD1	7	30492365	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08		30492365	128646298	33	8161											
EGFR	1956	broad.mit.edu	37	7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:55221711G>C	uc003tqk.3	+	6	1001	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_uc003tqh.3_Missense_Mutation_p.R252P|EGFR_uc003tqi.3_Missense_Mutation_p.R252P|EGFR_uc003tqj.3_Missense_Mutation_p.R252P|EGFR_uc022adm.1_Missense_Mutation_p.R252P|EGFR_uc010kzg.2_Missense_Mutation_p.R207P|EGFR_uc022adn.1_Missense_Mutation_p.R207P|EGFR_uc011kco.2_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(1)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55221711	G	C	55221711	3	2	121	1	0	0	0	0	1	0	0	0	4967	1087	38	5	781	5	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	24729346	55221711	103916952	34	8162											
WNT2	7472	broad.mit.edu	37	7	116960680	116960680	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:116960680C>T	uc003viz.3	-	1	551	c.251G>A	c.(250-252)cGc>cAc	p.R84H	WNT2_uc003vja.3_Silent_p.P9P	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	84					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GCAATTCCAGCGGTGCTGGCG	0.597													T	116960680	C	T	116960680	3	4	121	1	0	0	0	0	1	0	0	0	17383	768	27	1	847	1	WNT2	7	116960680	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	61738969	116960680	42177983	35	8163											
MGAM	8972	broad.mit.edu	37	7	141734061	141734061	+	Splice_Site	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:141734061G>T	uc003vwy.3	+	15	1724	c.1670_splice	c.e15-1	p.R557_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	557	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTTGTTTCAGGAATCCTGGA	0.478													T	141734061	G	T	141734061	5	4	121	1	0	0	0	0	0	0	1	0	9541	1014	35	5	1723	5	MGAM	7	141734061	Splice_Site	SNP	G	TCGA-12-3652-01A-01D-1495-08	24773381	141734061	17404602	36	8164											
FAM135B	51059	broad.mit.edu	37	8	139164563	139164563	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr8:139164563G>A	uc003yuy.3	-	12	2326	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*	FAM135B_uc003yux.3_Nonsense_Mutation_p.R620*|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Nonsense_Mutation_p.R281*|FAM135B_uc003yvb.3_Nonsense_Mutation_p.R281*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGTCTTCGAACAAACGGG	0.567										HNSCC(54;0.14)			A	139164563	G	A	139164563	4	1	121	1	0	0	0	0	0	1	0	0	5449	1066	37	2	2097	2	FAM135B	8	139164563	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		139164563	7199459	37	8165											
BNC2	54796	broad.mit.edu	37	9	16419622	16419622	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:16419622G>A	uc003zml.3	-	6	2805	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	BNC2_uc011lmw.2_Missense_Mutation_p.R794C|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R676C	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	889					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AACAGTTTACGATGTAGGTTT	0.488													A	16419622	G	A	16419622	3	1	121	1	0	0	0	0	1	0	0	0	1475	1058	37	2	638	2	BNC2	9	16419622	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		16419622	124793809	38	8166											
LINGO2	158038	broad.mit.edu	37	9	27950347	27950347	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:27950347C>T	uc003zqv.1	-	6	973	c.323G>A	c.(322-324)cGt>cAt	p.R108H	LINGO2_uc010mjf.1_Missense_Mutation_p.R108H|LINGO2_uc003zqu.1_Missense_Mutation_p.R108H|LINGO2_uc022bfc.1_Missense_Mutation_p.R108H	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	108						integral to membrane		p.R108H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCGGAGGGAACGCAGGTTAAA	0.438													T	27950347	C	T	27950347	3	4	121	1	0	0	0	0	1	0	0	0	8815	536	19	1	1501	1	LINGO2	9	27950347	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	11530725	27950347	113263084	39	8167											
WNK2	65268	broad.mit.edu	37	9	96051416	96051416	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:96051416A>G	uc004ati.1	+	19	4491	c.4491A>G	c.(4489-4491)ccA>ccG	p.P1497P	WNK2_uc011lud.1_Silent_p.P1460P|WNK2_uc004atj.3_Silent_p.P1460P|WNK2_uc004atk.3_Silent_p.P1097P|WNK2_uc004atl.1_Silent_p.P55P	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1497					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCCAGCTCCAGAGGCTGCCT	0.692													G	96051416	A	G	96051416	2	3	121	1	0	0	0	0	0	0	0	1	17375	175	7	4		4	WNK2	9	96051416	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	68101069	96051416	45162015	40	8168											
OR9G9	504191	broad.mit.edu	37	11	56467944	56467944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:56467944delC	uc010rjn.2	+	0	81	c.81delC	c.(79-81)ttcfs	p.F27fs	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGGGCCTCTTCGTGGTGTTCC	0.502													-	56467944	C	-	56467944	7	5	121	1	0	1	0	1	0	0	0	0	11252	883	31	0	83	0	OR9G9	11	56467944	Frame_Shift_Del	DEL	C	TCGA-12-3652-01A-01D-1495-08		56467944	78538572	41	8169											
LRRC55	219527	broad.mit.edu	37	11	56949854	56949854	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:56949854C>T	uc001njl.2	+	0	634	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	133						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ACACTTGGACCTGAGCTACAA	0.582													T	56949854	C	T	56949854	2	4	121	1	0	0	0	0	0	0	0	1	9011	680	24	3		3	LRRC55	11	56949854	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	481910	56949854	78056662	42	8170											
OR5AN1	390195	broad.mit.edu	37	11	59132440	59132440	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:59132440G>T	uc010rks.2	+	0	509	c.509G>T	c.(508-510)tGt>tTt	p.C170F		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCCACTTCTGTGGGTCTAAT	0.443													T	59132440	G	T	59132440	3	4	121	1	0	0	0	0	1	0	0	0	11143	1377	48	5	511	5	OR5AN1	11	59132440	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	2182586	59132440	75874076	43	8171											
MMP13	4322	broad.mit.edu	37	11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	rs147544761		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:102822878G>A	uc001phl.3	-	4	691	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	221					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAACTCATGCGCAGCAACAAG	0.423													A	102822878	G	A	102822878	3	1	121	1	0	0	0	0	1	0	0	0	9652	1087	38	1	777	1	MMP13	11	102822878	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	43690438	102822878	32183638	44	8172											
GRIN2B	2904	broad.mit.edu	37	12	13724856	13724856	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:13724856T>C	uc001rbt.2	-	9	2232	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	685					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGGGCACGGTCCCAAAGCGG	0.493													C	13724856	T	C	13724856	3	2	121	1	0	0	0	0	1	0	0	0	6780	1667	58	4	2417	4	GRIN2B	12	13724856	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08		13724856	120127039	45	8173											
NR4A1	3164	broad.mit.edu	37	12	52448556	52448556	+	Silent	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:52448556G>T	uc001rzs.3	+	2	763	c.444G>T	c.(442-444)ccG>ccT	p.P148P	NR4A1_uc010sno.2_Silent_p.P161P|NR4A1_uc001rzr.2_Silent_p.P148P|NR4A1_uc009zmb.2_Silent_p.P148P|NR4A1_uc001rzt.3_Silent_p.P148P|NR4A1_uc009zmc.3_5'Flank	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	148					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCTTCCAGCCGCCCCAGCTCT	0.677													T	52448556	G	T	52448556	2	4	121	1	0	0	0	0	0	0	0	1	10632	1074	38	5		5	NR4A1	12	52448556	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	38723700	52448556	81403339	46	8174											
ESYT1	23344	broad.mit.edu	37	12	56536179	56536179	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:56536179G>T	uc001sjr.3	+	24	2851	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H	ESYT1_uc001sjq.3_Missense_Mutation_p.Q901H	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	901						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GCAGTGGTCAGGGGCAGGTGC	0.622													T	56536179	G	T	56536179	3	4	121	1	0	0	0	0	1	0	0	0	5264	991	35	5	2831	5	ESYT1	12	56536179	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	4087623	56536179	77315716	47	8175											
RNFT2	84900	broad.mit.edu	37	12	117217036	117217036	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:117217036C>T	uc009zwn.3	+	6	998	c.765C>T	c.(763-765)gaC>gaT	p.D255D	RNFT2_uc001twb.4_Silent_p.D255D|RNFT2_uc001twa.4_Silent_p.D165D|RNFT2_uc001twc.4_Silent_p.D3D	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	255						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGATGCTGGACTTCTTTGACC	0.547													T	117217036	C	T	117217036	2	4	121	1	0	0	0	0	0	0	0	1	13502	564	20	3		3	RNFT2	12	117217036	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	60680857	117217036	16634859	48	8176											
VSIG10	54621	broad.mit.edu	37	12	118517207	118517207	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:118517207C>A	uc001tws.3	-	3	1203	c.869G>T	c.(868-870)tGt>tTt	p.C290F		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	290	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAACACACTTGAACTT	0.542													A	118517207	C	A	118517207	3	1	121	1	0	0	0	0	1	0	0	0	17220	478	17	5	777	5	VSIG10	12	118517207	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	1300171	118517207	15334688	49	8177											
CCDC60	160777	broad.mit.edu	37	12	119942953	119942953	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:119942953G>A	uc001txe.3	+	6	1193	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	243										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTCTGAGTCGGGCCAGTGGG	0.557													A	119942953	G	A	119942953	3	1	121	1	0	0	0	0	1	0	0	0	2831	1116	39	2	754	2	CCDC60	12	119942953	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	1425746	119942953	13908942	50	8178											
RNF17	56163	broad.mit.edu	37	13	25425654	25425654	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:25425654C>T	uc001upr.3	+	23	3306	c.3265C>T	c.(3265-3267)Cgt>Tgt	p.R1089C	RNF17_uc010tdd.1_Missense_Mutation_p.R948C|RNF17_uc010tde.2_Missense_Mutation_p.R1085C|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R1028C|RNF17_uc010aac.3_Missense_Mutation_p.R287C|RNF17_uc010aad.3_Missense_Mutation_p.R141C	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1089					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)		AAAAGGAGAGCGTGTTGATGT	0.333													T	25425654	C	T	25425654	3	4	121	1	0	0	0	0	1	0	0	0	13461	768	27	1	3359	1	RNF17	13	25425654	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08		25425654	89744224	51	8179											
PCDH9	5101	broad.mit.edu	37	13	67205380	67205380	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:67205380T>C	uc001vik.3	-	3	3994	c.3302A>G	c.(3301-3303)aAg>aGg	p.K1101R	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.K1067R|PCDH9_uc010thl.2_Missense_Mutation_p.K1059R|U7_uc021rkh.1_5'Flank	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1101					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCAGTCCTCTTGTCCGGAGA	0.512													C	67205380	T	C	67205380	3	2	121	1	0	0	0	0	1	0	0	0	11518	1609	56	4	419	4	PCDH9	13	67205380	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	41779726	67205380	47964498	52	8180											
KLF12	11278	broad.mit.edu	37	13	74387376	74387376	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:74387376C>T	uc001vjf.3	-	4	941	c.719G>A	c.(718-720)aGt>aAt	p.S240N	KLF12_uc010aeq.3_Missense_Mutation_p.S240N|KLF12_uc001vjg.3_Missense_Mutation_p.S240N	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	240					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		ATCATCATCACTGTCACTTTT	0.423													T	74387376	C	T	74387376	3	4	121	1	0	0	0	0	1	0	0	0	8340	565	20	3	505	3	KLF12	13	74387376	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	7181996	74387376	40782502	53	8181											
HEATR5A	25938	broad.mit.edu	37	14	31852888	31852888	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr14:31852888C>T	uc001wrf.4	-	9	1620	c.1435G>A	c.(1435-1437)Gca>Aca	p.A479T	HEATR5A_uc010ami.3_Missense_Mutation_p.A84T|HEATR5A_uc001wrg.1_Missense_Mutation_p.A68T|HEATR5A_uc010tpk.1_Missense_Mutation_p.A479T	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	473							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGGGTAATGCCACGGCAATG	0.468													T	31852888	C	T	31852888	3	4	121	1	0	0	0	0	1	0	0	0	7031	739	26	3	4813	3	HEATR5A	14	31852888	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08		31852888	75496652	54	8182											
RYR3	6263	broad.mit.edu	37	15	34049760	34049760	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:34049760G>A	uc001zhi.3	+	59	8738	c.8668G>A	c.(8668-8670)Gga>Aga	p.G2890R	RYR3_uc010bar.3_Missense_Mutation_p.G2890R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2890					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)		TAGCAGCAGCGGATATGCCTC	0.512													A	34049760	G	A	34049760	3	1	121	1	0	0	0	0	1	0	0	0	13770	1117	39	2	8906	2	RYR3	15	34049760	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		34049760	68481632	55	8183											
SPTBN5	51332	broad.mit.edu	37	15	42162053	42162053	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:42162053G>A	uc001zos.3	-	31	6067	c.5734C>T	c.(5734-5736)Cgc>Tgc	p.R1912C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1947					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTGCGGAAGCGGGCCAGGAGG	0.682													A	42162053	G	A	42162053	3	1	121	1	0	0	0	0	1	0	0	0	15121	1116	39	2	5333	2	SPTBN5	15	42162053	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	8112293	42162053	60369339	56	8184											
GALK2	2585	broad.mit.edu	37	15	49620177	49620177	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:49620177A>G	uc001zxj.1	+	9	1296	c.1198A>G	c.(1198-1200)Act>Gct	p.T400A	GALK2_uc001zxi.1_Missense_Mutation_p.T389A|GALK2_uc010ufb.1_Missense_Mutation_p.T376A|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Missense_Mutation_p.T376A	NM_002044	NP_002035	Q01415	GALK2_HUMAN	Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.	400					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GTCACGACTTACTGGAGCAGG	0.438													G	49620177	A	G	49620177	3	3	121	1	0	0	0	0	1	0	0	0	6204	391	14	4	1260	4	GALK2	15	49620177	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08	7458124	49620177	52911215	57	8185											
SLC24A1	9187	broad.mit.edu	37	15	65917215	65917215	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:65917215C>A	uc010ujf.2	+	1	1084	c.797C>A	c.(796-798)gCa>gAa	p.A266E	SLC24A1_uc010ujd.1_Missense_Mutation_p.A266E|SLC24A1_uc010uje.1_Missense_Mutation_p.A266E|SLC24A1_uc010ujg.2_Missense_Mutation_p.A266E|SLC24A1_uc010ujh.2_Missense_Mutation_p.A266E	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	266					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGGTAGAAGCAAACGTCTTG	0.473													A	65917215	C	A	65917215	3	1	121	1	0	0	0	0	1	0	0	0	14465	710	25	5		5	SLC24A1	15	65917215	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	16297038	65917215	36614177	58	8186											
MYO15A	51168	broad.mit.edu	37	17	18052554	18052554	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:18052554G>A	uc021trm.1	+	32	7200	c.6981G>A	c.(6979-6981)tcG>tcA	p.S2327S	MYO15A_uc021trl.1_Silent_p.S2325S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2327	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTGGGACTCGGATGAGGACA	0.537													A	18052554	G	A	18052554	2	1	121	1	0	0	0	0	0	0	0	1	10063	1103	39	2		2	MYO15A	17	18052554	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08		18052554	63142656	59	8187											
MYO1D	4642	broad.mit.edu	37	17	31107790	31107790	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:31107790C>T	uc002hho.1	-	1	120	c.108G>A	c.(106-108)ggG>ggA	p.G36G	MYO1D_uc002hhp.1_Silent_p.G36G|MYO1D_uc010wcb.2_Silent_p.G36G	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	36	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TATAGATGCGCCCTTTTTCAA	0.413													T	31107790	C	T	31107790	2	4	121	1	0	0	0	0	0	0	0	1	10071	726	26	3		3	MYO1D	17	31107790	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	13055236	31107790	50087420	60	8188											
SLC4A1	6521	broad.mit.edu	37	17	42335421	42335421	+	Silent	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:42335421G>A	uc002igf.4	-	10	1364	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	405	Membrane (anion exchange).		Missing (in EL4).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.Q404H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGGCAGCCAGGACCTGGGGGC	0.597													A	42335421	G	A	42335421	2	1	121	1	0	0	0	0	0	0	0	1	14650	1161	41	3		3	SLC4A1	17	42335421	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	11227631	42335421	38859789	61	8189											
RBBP8	5932	broad.mit.edu	37	18	20564928	20564928	+	Silent	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr18:20564928T>C	uc002kua.3	+	7	807	c.684T>C	c.(682-684)taT>taC	p.Y228Y	RBBP8_uc002ktw.3_Silent_p.Y228Y|RBBP8_uc002kty.3_Silent_p.Y228Y|RBBP8_uc002ktz.3_Silent_p.Y228Y|RBBP8_uc002ktx.1_Silent_p.Y228Y	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	228					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTGACACTTATGACCAAAGTC	0.353								Homologous recombination					C	20564928	T	C	20564928	2	2	121	1	0	0	0	0	0	0	0	1	13105	1471	51	4		4	RBBP8	18	20564928	Silent	SNP	T	TCGA-12-3652-01A-01D-1495-08		20564928	57512320	62	8190											
C3	718	broad.mit.edu	37	19	6677900	6677900	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:6677900G>T	uc002mfm.3	-	40	5047	c.4985C>A	c.(4984-4986)cCc>cAc	p.P1662H		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1662					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGTCAGTTGGGGCACCCAAA	0.557													T	6677900	G	T	6677900	3	4	121	1	0	0	0	0	1	0	0	0	2204	1232	43	5	10	5	C3	19	6677900	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		6677900	52451083	63	8191											
FKBP8	23770	broad.mit.edu	37	19	18649190	18649190	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:18649190G>A	uc002njk.1	-	4	718	c.605C>T	c.(604-606)aCg>aTg	p.T202M	FKBP8_uc010xqi.1_Missense_Mutation_p.T231M|FKBP8_uc002njj.1_Missense_Mutation_p.T203M|FKBP8_uc021uqp.1_Intron	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	202	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GTCCACAGCCGTCTTCAGGGT	0.697													A	18649190	G	A	18649190	3	1	121	1	0	0	0	0	1	0	0	0	5914	1145	40	1	653	1	FKBP8	19	18649190	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	11971290	18649190	40479793	64	8192											
TMEM147	10430	broad.mit.edu	37	19	36037641	36037641	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:36037641C>T	uc002oaj.2	+	3	415	c.275C>T	c.(274-276)gCc>gTc	p.A92V	AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Missense_Mutation_p.A43V|TMEM147_uc021usr.1_Intron	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.	92						endoplasmic reticulum membrane|integral to membrane	protein binding	p.A92V(2)|p.A92A(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGAATGCCGGCAAGGGA	0.572													T	36037641	C	T	36037641	3	4	121	1	0	0	0	0	1	0	0	0	16058	739	26	3	289	3	TMEM147	19	36037641	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	17388451	36037641	23091342	65	8193											
NPHS1	4868	broad.mit.edu	37	19	36339161	36339161	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:36339161C>T	uc002oby.3	-	9	1465	c.1309G>A	c.(1309-1311)Gta>Ata	p.V437I		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	437					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.V437I(2)		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)			TCACATTTTACGTTCAGGATG	0.582													T	36339161	C	T	36339161	3	4	121	1	0	0	0	0	1	0	0	0	10582	536	19	1	2496	1	NPHS1	19	36339161	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	301520	36339161	22789822	66	8194											
TTYH1	57348	broad.mit.edu	37	19	54930375	54930375	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:54930375T>C	uc002qfr.3	+	1	322	c.200T>C	c.(199-201)aTc>aCc	p.I67T	TTYH1_uc010yey.2_Missense_Mutation_p.I116T|TTYH1_uc002qfq.3_Missense_Mutation_p.I67T|TTYH1_uc002qft.3_Missense_Mutation_p.I67T|TTYH1_uc002qfu.1_5'UTR	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	67					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTCTACCTCATCCGCTTCTGC	0.682													C	54930375	T	C	54930375	3	2	121	1	0	0	0	0	1	0	0	0	16736	1435	50	4	206	4	TTYH1	19	54930375	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	18591214	54930375	4198608	67	8195											
ZNF418	147686	broad.mit.edu	37	19	58441862	58441862	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:58441862T>A	uc002qqs.1	-	2	359	c.67A>T	c.(67-69)Agt>Tgt	p.S23C	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Intron	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGAACCTCACTAAGGAGACTC	0.483													A	58441862	T	A	58441862	3	1	121	1	0	0	0	0	1	0	0	0	17892	1522	53	5	1971	5	ZNF418	19	58441862	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	3511487	58441862	687121	68	8196											
PROKR2	128674	broad.mit.edu	37	20	5283335	5283335	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:5283335G>A	uc010zqw.2	-	1	514	c.506C>T	c.(505-507)aCg>aTg	p.T169M	PROKR2_uc010zqx.2_Missense_Mutation_p.T169M|PROKR2_uc010zqy.2_Missense_Mutation_p.T169M	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	169						integral to membrane|plasma membrane	neuropeptide Y receptor activity			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						GAAGGAGGCCGTTTGATAATT	0.488										HNSCC(71;0.22)			A	5283335	G	A	5283335	3	1	121	1	0	0	0	0	1	0	0	0	12553	1145	40	1	651	1	PROKR2	20	5283335	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		5283335	57742185	69	8197											
SEMG2	6407	broad.mit.edu	37	20	43851266	43851266	+	Silent	SNP	A	A	G			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:43851266A>G	uc010ggz.3	+	1	1050	c.993A>G	c.(991-993)acA>acG	p.T331T	SEMG2_uc002xnk.3_Silent_p.T331T|SEMG2_uc002xnl.3_Silent_p.T331T	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	331	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACCAGGTAACAATTCATAGTC	0.373													G	43851266	A	G	43851266	2	3	121	1	0	0	0	0	0	0	0	1	14045	117	5	4		4	SEMG2	20	43851266	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	38567931	43851266	19174254	70	8198											
WFDC8	90199	broad.mit.edu	37	20	44180784	44180784	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:44180784G>A	uc002xow.3	-	5	686	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	WFDC8_uc002xox.3_Missense_Mutation_p.R203C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	203	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity	p.P202Q(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				AAGGGCTTGCGTGGGCAGAAA	0.423													A	44180784	G	A	44180784	3	1	121	1	0	0	0	0	1	0	0	0	17353	1145	40	1	122	1	WFDC8	20	44180784	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	329518	44180784	18844736	71	8199											
MOCS3	27304	broad.mit.edu	37	20	49575846	49575846	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:49575846C>T	uc002xvy.1	+	0	484	c.467C>T	c.(466-468)cCg>cTg	p.P156L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	156					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GAATGCGTGCCGTACACTCAG	0.657													T	49575846	C	T	49575846	3	4	121	1	0	0	0	0	1	0	0	0	9692	652	23	2	469	2	MOCS3	20	49575846	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	5395062	49575846	13449674	72	8200											
UMODL1	89766	broad.mit.edu	37	21	43496188	43496188	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr21:43496188G>C	uc002zag.1	+	1	151	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zaf.1_Missense_Mutation_p.V51L|AX748362_uc002zah.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	51	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTGGAGGCCGTGCAGACGTC	0.587													C	43496188	G	C	43496188	3	2	121	1	0	0	0	0	1	0	0	0	16977	1145	40	5	157	5	UMODL1	21	43496188	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		43496188	4633707	73	8201											
MAGEB4	4115	broad.mit.edu	37	X	30260502	30260502	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrX:30260502G>A	uc004dcb.3	+	0	446	c.250G>A	c.(250-252)Gac>Aac	p.D84N	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	84										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGATAAAGGCGACGAGAGCCA	0.517													A	30260502	G	A	30260502	3	1	121	1	0	0	0	0	1	0	0	0	9178	1058	37	2	252	2	MAGEB4	23	30260502	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		30260502	125010058	74	8202											
AR	367	broad.mit.edu	37	X	66937441	66937441	+	Silent	SNP	C	C	T			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrX:66937441C>T	uc004dwu.2	+	4	3410	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.F233F	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	764	Interaction with MYST2.|Ligand-binding.		A -> T (in AIS; loss of androgen binding).|A -> V (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTCTACTTCGCCCCTGATC	0.542									Androgen Insensitivity Syndrome				T	66937441	C	T	66937441	2	4	121	1	0	0	0	0	0	0	0	1	836	883	31	2		2	AR	23	66937441	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	36676939	66937441	88333119	75	8203											
KDM5D	8284	broad.mit.edu	37	Y	21897252	21897252	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrY:21897252T>A	uc004fug.3	-	7	1207	c.919A>T	c.(919-921)Agc>Tgc	p.S307C	KDM5D_uc011naz.2_Missense_Mutation_p.S307C|KDM5D_uc010nwy.3_Missense_Mutation_p.S250C|KDM5D_uc011nba.1_Missense_Mutation_p.S307C|KDM5D_uc004fuh.2_Missense_Mutation_p.S262C	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	307					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TGGGCACTGCTGTGATTCTTT	0.398													A	21897252	T	A	21897252	3	1	121	1	0	0	0	0	1	0	0	0	8136	1580	55	5	3877	5	KDM5D	24	21897252	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08		21897252	37476314	76	8204											
KIAA1751	85452	broad.mit.edu	37	1	1900084	1900084	+	Missense_Mutation	SNP	G	G	A	rs150108692	by1000genomes	TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:1900084G>A	uc001aim.1	-	10	1391	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	KIAA1751_uc009vkz.1_Missense_Mutation_p.T412M	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	412										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CAGTGTGTACGTGTTGGTTGG	0.582													A	1900084	G	A	1900084	3	1	122	1	0	0	0	0	1	0	0	0	8256	1145	40	1	1085	1	KIAA1751	1	1900084	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		1900084	247350537	1	8205											
MTF1	4520	broad.mit.edu	37	1	38323155	38323155	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:38323155T>C	uc001cce.1	-	1	317	c.176A>G	c.(175-177)gAg>gGg	p.E59G	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	59						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATCTTCATCCTCCAAAGTGCC	0.488													C	38323155	T	C	38323155	3	2	122	1	0	0	0	0	1	0	0	0	9922	1551	54	4	2125	4	MTF1	1	38323155	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	36423071	38323155	210927466	2	8206											
WDR65	149465	broad.mit.edu	37	1	43649424	43649424	+	Missense_Mutation	SNP	G	G	A	rs142914910		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:43649424G>A	uc021omk.1	+	3	783	c.637G>A	c.(637-639)Gtt>Att	p.V213I	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.V202I|WDR65_uc001ciq.2_Missense_Mutation_p.V213I|WDR65_uc001cip.2_Missense_Mutation_p.V213I	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	213										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAGATTGTCGTTGGCACTGA	0.502													A	43649424	G	A	43649424	3	1	122	1	0	0	0	0	1	0	0	0	17313	1145	40	1	647	1	WDR65	1	43649424	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	5326269	43649424	205601197	3	8207											
RAD54L	8438	broad.mit.edu	37	1	46726266	46726266	+	Missense_Mutation	SNP	C	C	T	rs149141765		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:46726266C>T	uc001cpl.2	+	5	1171	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	RAD54L_uc009vye.2_Missense_Mutation_p.R154W	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	154					meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.R154W(2)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TAAGGTTTTGCGGCCTCATCA	0.537								Direct reversal of damage;Homologous recombination					T	46726266	C	T	46726266	3	4	122	1	0	0	0	0	1	0	0	0	12993	759	27	1	482	1	RAD54L	1	46726266	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	3076842	46726266	202524355	4	8208											
LMX1A	4009	broad.mit.edu	37	1	165177351	165177351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:165177351G>A	uc001gcz.2	-	6	960	c.766C>T	c.(766-768)Cga>Tga	p.R256*	LMX1A_uc021pdz.1_Nonsense_Mutation_p.R256*|LMX1A_uc021pdy.1_Nonsense_Mutation_p.R7*|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	256	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGCTGCTGTCGCCTGGCCAGC	0.562													A	165177351	G	A	165177351	4	1	122	1	0	0	0	0	0	1	0	0	8861	1095	38	1	394	1	LMX1A	1	165177351	Nonsense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	118451085	165177351	84073270	5	8209											
CDC42EP3	10602	broad.mit.edu	37	2	37873026	37873026	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:37873026C>A	uc021vfz.1	-	0	705	c.705G>T	c.(703-705)caG>caT	p.Q235H	CDC42EP3_uc002rqi.1_Missense_Mutation_p.Q235H	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.	235					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CAAGATCAAGCTGCAGGGAGA	0.463													A	37873026	C	A	37873026	3	1	122	1	0	0	0	0	1	0	0	0	3077	796	28	5	63	5	CDC42EP3	2	37873026	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		37873026	205326347	6	8210											
LRP1B	53353	broad.mit.edu	37	2	141130669	141130669	+	Missense_Mutation	SNP	C	C	T	rs145915063		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:141130669C>T	uc002tvj.1	-	68	11648	c.10676G>A	c.(10675-10677)cGg>cAg	p.R3559Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3559	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		ATTGGAACACCGGAACTGATC	0.368										TSP Lung(27;0.18)			T	141130669	C	T	141130669	3	4	122	1	0	0	0	0	1	0	0	0	8955	652	23	2	3215	2	LRP1B	2	141130669	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	103257643	141130669	102068704	7	8211											
DFNB59	494513	broad.mit.edu	37	2	179323290	179323290	+	Silent	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:179323290C>T	uc002umi.4	+	4	959	c.603C>T	c.(601-603)ttC>ttT	p.F201F	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Silent_p.F201F	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	201					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTATTGTTTTCCCAGCACATA	0.343													T	179323290	C	T	179323290	2	4	122	1	0	0	0	0	0	0	0	1	4456	854	30	3		3	DFNB59	2	179323290	Silent	SNP	C	TCGA-12-3653-01A-01D-1495-08	38192621	179323290	63876083	8	8212											
P4HTM	54681	broad.mit.edu	37	3	49042445	49042445	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:49042445G>A	uc003cvh.3	+	5	1388	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	P4HTM_uc003cvg.3_Missense_Mutation_p.A347T|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	347	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CAAGCTGGTAGCCAACGAGTC	0.587													A	49042445	G	A	49042445	3	1	122	1	0	0	0	0	1	0	0	0	11360	971	34	3	1061	3	P4HTM	3	49042445	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		49042445	148979985	9	8213											
ATR	545	broad.mit.edu	37	3	142281611	142281611	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:142281611C>T	uc003eux.4	-	3	755	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	211			M -> T (in dbSNP:rs2227928).		cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.M211T(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GAGTAAGAACCATTAATAAAG	0.318								Other conserved DNA damage response genes					T	142281611	C	T	142281611	3	4	122	1	0	0	0	0	1	0	0	0	1204	594	21	3	7477	3	ATR	3	142281611	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	93239166	142281611	55740819	10	8214											
YEATS2	55689	broad.mit.edu	37	3	183525871	183525871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:183525871delG	uc003fly.2	+	28	4260	c.4065delG	c.(4063-4065)gtgfs	p.V1355fs	AX746590_uc003fma.1_5'Flank|YEATS2_uc021xie.1_5'Flank	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1355					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGCGTCCGTGGTGGAGGACA	0.562													-	183525871	G	-	183525871	7	5	122	1	0	1	0	1	0	0	0	0	17469	1335	47	0	4175	0	YEATS2	3	183525871	Frame_Shift_Del	DEL	G	TCGA-12-3653-01A-01D-1495-08	41244260	183525871	14496559	11	8215											
PCYT1A	5130	broad.mit.edu	37	3	195965646	195965646	+	Silent	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:195965646G>A	uc003fwg.3	-	9	1190	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Silent_p.S339S	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	339	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGTCTTGCCGGAGAAGGGCC	0.607													A	195965646	G	A	195965646	2	1	122	1	0	0	0	0	0	0	0	1	11610	1103	39	2		2	PCYT1A	3	195965646	Silent	SNP	G	TCGA-12-3653-01A-01D-1495-08	12439775	195965646	2056784	12	8216											
CDH9	1007	broad.mit.edu	37	5	26881547	26881547	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:26881547G>A	uc003jgs.1	-	11	2237	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	CDH9_uc011cnv.1_Missense_Mutation_p.R283W	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	690					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTACATCCCGTCTAAGTTTA	0.408													A	26881547	G	A	26881547	3	1	122	1	0	0	0	0	1	0	0	0	3117	1144	40	1	305	1	CDH9	5	26881547	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		26881547	154033713	13	8217											
GDNF	2668	broad.mit.edu	37	5	37815950	37815950	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:37815950C>T	uc011cpi.2	-	2	639	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	GDNF_uc011cpd.2_Missense_Mutation_p.G95S|GDNF_uc011cpe.2_Missense_Mutation_p.G121S|GDNF_uc011cpf.2_Missense_Mutation_p.G121S|GDNF_uc011cpg.2_Missense_Mutation_p.G164S|GDNF_uc011cph.2_Missense_Mutation_p.G138S	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	147					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TCGCAAGAGCCGCTGCAGTAC	0.443													T	37815950	C	T	37815950	3	4	122	1	0	0	0	0	1	0	0	0	6322	652	23	2	199	2	GDNF	5	37815950	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	10934403	37815950	143099310	14	8218											
LNPEP	4012	broad.mit.edu	37	5	96341853	96341853	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:96341853T>C	uc003kmv.1	+	9	2376	c.1862T>C	c.(1861-1863)gTt>gCt	p.V621A	LNPEP_uc003kmw.1_Missense_Mutation_p.V607A	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	621					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTAGTGACTGTTCAAAAGAAA	0.333													C	96341853	T	C	96341853	3	2	122	1	0	0	0	0	1	0	0	0	8864	1725	60	4	1900	4	LNPEP	5	96341853	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	58525903	96341853	84573407	15	8219											
F13A1	2162	broad.mit.edu	37	6	6196068	6196068	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr6:6196068C>T	uc003mwv.3	-	9	1390	c.1267G>A	c.(1267-1269)Gtc>Atc	p.V423I	F13A1_uc011dib.2_Missense_Mutation_p.V360I	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	423					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGGAAGCAGACATGGCCGTGC	0.498													T	6196068	C	T	6196068	3	4	122	1	0	0	0	0	1	0	0	0	5340	478	17	3	955	3	F13A1	6	6196068	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		6196068	164918999	16	8220											
PKHD1	5314	broad.mit.edu	37	6	51609339	51609339	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr6:51609339T>C	uc003pah.1	-	60	10275	c.9999_splice	c.e60-1	p.R3333_splice	PKHD1_uc010jzn.1_Splice_Site_p.R1316_splice|PKHD1_uc003pai.3_Splice_Site_p.R3333_splice	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3333					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			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)					CCTAAATCTTTCCTGTGAAGA	0.383													C	51609339	T	C	51609339	3	2	122	1	0	0	0	0	1	0	0	0	11971	1797	62	4	2295	4	PKHD1	6	51609339	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	45413271	51609339	119505728	17	8221											
COL28A1	340267	broad.mit.edu	37	7	7483281	7483281	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:7483281C>T	uc003src.1	-	19	1702	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	COL28A1_uc011jxe.1_Missense_Mutation_p.E212K|COL28A1_uc003srd.3_Missense_Mutation_p.E84K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	529	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGCCCCGCTTCTCCCTAGAGA	0.517													T	7483281	C	T	7483281	3	4	122	1	0	0	0	0	1	0	0	0	3686	922	32	3	1856	3	COL28A1	7	7483281	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		7483281	151655382	18	8222											
GRM3	2913	broad.mit.edu	37	7	86415877	86415877	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:86415877G>A	uc003uid.3	+	2	1868	c.769G>A	c.(769-771)Gac>Aac	p.D257N	GRM3_uc010lef.3_Missense_Mutation_p.D255N|GRM3_uc010leg.3_Missense_Mutation_p.D129N|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	257					synaptic transmission	integral to plasma membrane		p.D257H(2)|p.Y256Y(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAAGTCCTACGACAGCGTGAT	0.647													A	86415877	G	A	86415877	3	1	122	1	0	0	0	0	1	0	0	0	6798	1058	37	2	775	2	GRM3	7	86415877	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	78932596	86415877	72722786	19	8223											
ABCB1	5243	broad.mit.edu	37	7	87179839	87179839	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:87179839C>G	uc003uiz.2	-	11	1662	c.1169G>C	c.(1168-1170)gGa>gCa	p.G390A	ABCB1_uc011khc.2_Missense_Mutation_p.G326A	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	390					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCCAAATTTCCCTTAATATT	0.313													G	87179839	C	G	87179839	3	3	122	1	0	0	0	0	1	0	0	0	40	855	30	5	2745	5	ABCB1	7	87179839	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	763962	87179839	71958824	20	8224											
NPTX2	4885	broad.mit.edu	37	7	98256632	98256632	+	Silent	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:98256632C>T	uc003upl.2	+	3	1221	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	348	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCGGGGGCGTGCTGATCC	0.677													T	98256632	C	T	98256632	2	4	122	1	0	0	0	0	0	0	0	1	10603	755	27	1		1	NPTX2	7	98256632	Silent	SNP	C	TCGA-12-3653-01A-01D-1495-08	11076793	98256632	60882031	21	8225											
FOXP2	93986	broad.mit.edu	37	7	114282648	114282648	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:114282648A>G	uc003vhb.3	+	6	1333	c.959A>G	c.(958-960)cAg>cGg	p.Q320R	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.Q345R|FOXP2_uc003vha.3_Missense_Mutation_p.Q228R|FOXP2_uc011kmv.2_Missense_Mutation_p.Q319R|FOXP2_uc011kmu.2_Missense_Mutation_p.Q337R|FOXP2_uc010ljz.2_Missense_Mutation_p.Q228R|FOXP2_uc003vgx.2_Missense_Mutation_p.Q320R|FOXP2_uc003vhc.3_Missense_Mutation_p.Q345R|FOXP2_uc003vhd.3_Missense_Mutation_p.Q320R	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	320					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GTGAATGGACAGTCTTCAGTT	0.388													G	114282648	A	G	114282648	3	3	122	1	0	0	0	0	1	0	0	0	6027	188	7	4	1115	4	FOXP2	7	114282648	Missense_Mutation	SNP	A	TCGA-12-3653-01A-01D-1495-08	16026016	114282648	44856015	22	8226											
PLXNA4	91584	broad.mit.edu	37	7	131887591	131887591	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:131887591G>T	uc003vra.4	-	11	2629	c.2400C>A	c.(2398-2400)caC>caA	p.H800Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	800						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTTGTAGAGGTGAACTGCAG	0.632													T	131887591	G	T	131887591	3	4	122	1	0	0	0	0	1	0	0	0	12122	1252	44	5	3368	5	PLXNA4	7	131887591	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	17604943	131887591	27251072	23	8227											
TRPV6	55503	broad.mit.edu	37	7	142573429	142573429	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:142573429C>T	uc003wbx.2	-	7	1143	c.914G>A	c.(913-915)cGc>cAc	p.R305H	TRPV6_uc003wbw.1_Missense_Mutation_p.R91H|TRPV6_uc010lou.1_Missense_Mutation_p.R176H	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	305					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGGATCTGGCGAGCCTGCAA	0.607													T	142573429	C	T	142573429	3	4	122	1	0	0	0	0	1	0	0	0	16597	768	27	1	1295	1	TRPV6	7	142573429	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	10685838	142573429	16565234	24	8228											
ZYX	7791	broad.mit.edu	37	7	143080299	143080299	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:143080299T>C	uc003wcx.3	+	4	1065	c.907T>C	c.(907-909)Tct>Cct	p.S303P	ZYX_uc011ktd.2_Missense_Mutation_p.S146P|ZYX_uc003wcw.3_Missense_Mutation_p.S303P|ZYX_uc011kte.2_Missense_Mutation_p.S272P|ZYX_uc011ktf.2_Missense_Mutation_p.S146P	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	303					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGAAGCTCTTTCTGCTGGCAC	0.597													C	143080299	T	C	143080299	3	2	122	1	0	0	0	0	1	0	0	0	18251	1783	62	4	921	4	ZYX	7	143080299	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	506870	143080299	16058364	25	8229											
ZFAT	57623	broad.mit.edu	37	8	135612748	135612748	+	Silent	SNP	G	G	A	rs144002982	by1000genomes	TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr8:135612748G>A	uc003yup.3	-	6	2592	c.2406C>T	c.(2404-2406)acC>acT	p.T802T	ZFAT_uc003yun.3_Silent_p.T790T|ZFAT_uc003yuo.3_Silent_p.T790T|ZFAT_uc010meh.3_Silent_p.T790T|ZFAT_uc010mej.3_Silent_p.T740T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.T790T|ZFAT_uc003yur.3_Silent_p.T790T|ZFAT-AS1_uc003yus.1_Non-coding_Transcript	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACAGCCATCGGTGGGACACT	0.448													A	135612748	G	A	135612748	2	1	122	1	0	0	0	0	0	0	0	1	17629	1103	39	2		2	ZFAT	8	135612748	Silent	SNP	G	TCGA-12-3653-01A-01D-1495-08		135612748	10751274	26	8230											
KIF20B	9585	broad.mit.edu	37	10	91498196	91498196	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr10:91498196A>G	uc001kgs.1	+	19	3670	c.3598A>G	c.(3598-3600)Aat>Gat	p.N1200D	KIF20B_uc001kgr.1_Missense_Mutation_p.N1160D|KIF20B_uc001kgt.1_Missense_Mutation_p.N411D|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1200					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTAGAAAGAAATTTGAAGGA	0.318													G	91498196	A	G	91498196	3	3	122	1	0	0	0	0	1	0	0	0	8287	14	1	4	3552	4	KIF20B	10	91498196	Missense_Mutation	SNP	A	TCGA-12-3653-01A-01D-1495-08		91498196	44036551	27	8231											
ZNF518A	9849	broad.mit.edu	37	10	97916083	97916083	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr10:97916083C>T	uc001klp.3	+	5	861	c.4C>T	c.(4-6)Cca>Tca	p.P2S	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.P2S|ZNF518A_uc001klr.3_Missense_Mutation_p.P2S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTAAATCATGCCATCTGAACA	0.308													T	97916083	C	T	97916083	3	4	122	1	0	0	0	0	1	0	0	0	17959	739	26	3	6	3	ZNF518A	10	97916083	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	6417887	97916083	37618664	28	8232											
HEPHL1	341208	broad.mit.edu	37	11	93826783	93826783	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr11:93826783G>A	uc001pep.2	+	12	2568	c.2411G>A	c.(2410-2412)cGa>cAa	p.R804Q	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	804	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGACCACCACGAGAGGAGCAC	0.483													A	93826783	G	A	93826783	3	1	122	1	0	0	0	0	1	0	0	0	7055	1058	37	2	2461	2	HEPHL1	11	93826783	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		93826783	41179733	29	8233											
PGR	5241	broad.mit.edu	37	11	100920711	100920711	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr11:100920711C>A	uc001pgh.2	-	5	3180	c.2437G>T	c.(2437-2439)Gtt>Ttt	p.V813F	PGR_uc001pgg.2_Missense_Mutation_p.V194F|PGR_uc001pgi.2_Missense_Mutation_p.V711F|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	813	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCTTGGCTAACTTGAAGCTTG	0.368													A	100920711	C	A	100920711	3	1	122	1	0	0	0	0	1	0	0	0	11805	565	20	5	376	5	PGR	11	100920711	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	7093928	100920711	34085805	30	8234											
NTF3	4908	broad.mit.edu	37	12	5603770	5603770	+	Silent	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr12:5603770G>A	uc001qnl.4	+	0	473	c.390G>A	c.(388-390)gcG>gcA	p.A130A	NTF3_uc001qnk.4_Silent_p.A143A	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	130					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CCGTGGTGGCGAACAGAACAT	0.602													A	5603770	G	A	5603770	2	1	122	1	0	0	0	0	0	0	0	1	10696	1045	37	2		2	NTF3	12	5603770	Silent	SNP	G	TCGA-12-3653-01A-01D-1495-08		5603770	128248125	31	8235											
C1S	716	broad.mit.edu	37	12	7177641	7177641	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr12:7177641G>A	uc001qsj.3	+	14	2472	c.1753G>A	c.(1753-1755)Gca>Aca	p.A585T	C1S_uc001qsk.3_Missense_Mutation_p.A585T|C1S_uc001qsl.3_Missense_Mutation_p.A585T|C1S_uc009zfr.3_Missense_Mutation_p.A418T|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	585	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CCTCAAGGCGGCAAGGTTACC	0.512													A	7177641	G	A	7177641	3	1	122	1	0	0	0	0	1	0	0	0	1974	1203	42	3	1795	3	C1S	12	7177641	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	1573871	7177641	126674254	32	8236											
SPPL2A	84888	broad.mit.edu	37	15	51041869	51041869	+	Silent	SNP	A	A	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr15:51041869A>G	uc001zyv.3	-	1	321	c.141T>C	c.(139-141)ccT>ccC	p.P47P		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	47						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CTGTCCAATAAGGGTTATAAA	0.418													G	51041869	A	G	51041869	2	3	122	1	0	0	0	0	0	0	0	1	15087	59	3	4		4	SPPL2A	15	51041869	Silent	SNP	A	TCGA-12-3653-01A-01D-1495-08		51041869	51489523	33	8237											
ACAP1	9744	broad.mit.edu	37	17	7250193	7250193	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:7250193C>A	uc002ggd.2	+	12	1280	c.1074C>A	c.(1072-1074)agC>agA	p.S358R		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	358	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGCAGAGCAGCATTGCTTCTG	0.637													A	7250193	C	A	7250193	3	1	122	1	0	0	0	0	1	0	0	0	118	709	25	5	1124	5	ACAP1	17	7250193	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		7250193	73945017	34	8238											
TNS4	84951	broad.mit.edu	37	17	38635988	38635988	+	Silent	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:38635988C>T	uc010cxb.3	-	9	2012	c.1848G>A	c.(1846-1848)acG>acA	p.T616T	TNS4_uc002huu.4_Intron	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	616	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P615S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCACGGTGGGCGTGGGGAGGA	0.617													T	38635988	C	T	38635988	2	4	122	1	0	0	0	0	0	0	0	1	16342	755	27	1		1	TNS4	17	38635988	Silent	SNP	C	TCGA-12-3653-01A-01D-1495-08	31385795	38635988	42559222	35	8239											
KRTAP4-11	653240	broad.mit.edu	37	17	39274446	39274446	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:39274446C>T	uc002hvz.3	-	0	161	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	41	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGACAGTAGGT	0.667													T	39274446	C	T	39274446	3	4	122	1	0	0	0	0	1	0	0	0	8549	768	27	1	469	1	KRTAP4-11	17	39274446	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	638458	39274446	41920764	36	8240											
ARL4D	379	broad.mit.edu	37	17	41477126	41477126	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:41477126C>T	uc002idt.3	+	1	207	c.26C>T	c.(25-27)gCg>gTg	p.A9V	ARL4D_uc021txy.1_Missense_Mutation_p.A9V	NM_001661	NP_001652	P49703	ARL4D_HUMAN	Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA.	9					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGAGATGGCGCCCACTGCC	0.572													T	41477126	C	T	41477126	3	4	122	1	0	0	0	0	1	0	0	0	938	768	27	1	28	1	ARL4D	17	41477126	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	2202680	41477126	39718084	37	8241											
VAV1	7409	broad.mit.edu	37	19	6843162	6843162	+	Missense_Mutation	SNP	T	T	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr19:6843162T>C	uc002mfu.1	+	21	2094	c.1997T>C	c.(1996-1998)cTg>cCg	p.L666P	VAV1_uc010xjh.1_Missense_Mutation_p.L634P|VAV1_uc010dva.1_Missense_Mutation_p.L644P|VAV1_uc002mfv.1_Missense_Mutation_p.L611P	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	666					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTCAGGACCTGTCTGTTCAT	0.488													C	6843162	T	C	6843162	3	2	122	1	0	0	0	0	1	0	0	0	17128	1580	55	4	2083	4	VAV1	19	6843162	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08		6843162	52285821	38	8242											
ZNF701	55762	broad.mit.edu	37	19	53086225	53086228	+	Frame_Shift_Del	DEL	AAGG	AAGG	-			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr19:53086225_53086228delAAGG	uc010ydn.2	+	4	1174_1177	c.1111_1114delAAGG	c.(1111-1116)aaggttfs	p.K371fs	ZNF701_uc002pzs.2_Frame_Shift_Del_p.K305fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.K371fs	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGAATGTGGCAAGGTTTTTAATCA	0.387													-	53086228	AAGG	-	53086225	7	5	122	1	0	1	0	1	0	0	0	0	18102	131	5	0	1125	0	ZNF701	19	53086225	Frame_Shift_Del	DEL	AAGG	TCGA-12-3653-01A-01D-1495-08	46243063	53086225	6042758	39	8243											
ITSN1	6453	broad.mit.edu	37	21	35206635	35206635	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr21:35206635G>A	uc002yta.1	+	27	3644	c.3376G>A	c.(3376-3378)Ggc>Agc	p.G1126S	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.G1005S|ITSN1_uc002ysy.3_Missense_Mutation_p.G1121S|ITSN1_uc002ysx.3_Missense_Mutation_p.G1084S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.G1050S|ITSN1_uc010gmg.3_Missense_Mutation_p.G1013S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.G1126S|ITSN1_uc010gmi.3_Missense_Mutation_p.G1089S|ITSN1_uc002ytb.1_Missense_Mutation_p.G1121S|ITSN1_uc010gmk.3_Missense_Mutation_p.G1018S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.G1121S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.G989S|ITSN1_uc021wip.1_Missense_Mutation_p.G944S|ITSN1_uc002yti.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1126	SH3 4.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCGCCAGATAGGCTGGTTCCC	0.423													A	35206635	G	A	35206635	3	1	122	1	0	0	0	0	1	0	0	0	7926	1000	35	3	3482	3	ITSN1	21	35206635	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		35206635	12923260	40	8244											
KRTAP10-3	386682	broad.mit.edu	37	21	45978262	45978262	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr21:45978262C>T	uc002zfj.1	-	0	382	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	113	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						ttgcagcagacgggcacacag	0.647													T	45978262	C	T	45978262	3	4	122	1	0	0	0	0	1	0	0	0	8510	536	19	1	332	1	KRTAP10-3	21	45978262	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	10771627	45978262	2151633	41	8245											
XK	7504	broad.mit.edu	37	X	37587132	37587133	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chrX:37587132_37587133insC	uc004ddq.3	+	2	834_835	c.752_753insC	c.(751-753)tacfs	p.Y251fs		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	251					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TTCTTCTTGTACCCCTGGATCC	0.485													C	37587133	-	C	37587132	7	5	122	1	0	1	1	0	0	0	0	0	17428	391	14	0	762	0	XK	23	37587132	Frame_Shift_Ins	INS	-	TCGA-12-3653-01A-01D-1495-08		37587132	117683428	42	8246											
SMARCA1	6594	broad.mit.edu	37	X	128621040	128621040	+	Missense_Mutation	SNP	T	T	G			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chrX:128621040T>G	uc011muk.1	-	16	2285	c.2172A>C	c.(2170-2172)caA>caC	p.Q724H	SMARCA1_uc004eun.4_Missense_Mutation_p.Q724H|SMARCA1_uc004eup.4_Missense_Mutation_p.Q712H|SMARCA1_uc011mul.1_Missense_Mutation_p.Q712H	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	724					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGTATAAACTTTGTTCAATGT	0.348													G	128621040	T	G	128621040	3	3	122	1	0	0	0	0	1	0	0	0	14768	1838	64	5	1024	5	SMARCA1	23	128621040	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	91033908	128621040	26649520	43	8247											
NECAP2	55707	broad.mit.edu	37	1	16778338	16778338	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:16778338G>A	uc001ayq.3	+	5	585	c.495G>A	c.(493-495)atG>atA	p.M165I	NECAP2_uc001ayo.3_Missense_Mutation_p.M165I|NECAP2_uc010ocd.2_Missense_Mutation_p.M139I	NM_001145277	NP_001138749	Q9NVZ3	NECP2_HUMAN	Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA.	165					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTTAGAACATGAAGAAGAAGG	0.602													A	16778338	G	A	16778338	3	1	123	1	0	0	0	0	1	0	0	0	10308	1290	45	3	517	3	NECAP2	1	16778338	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		16778338	232472283	1	8248											
HNRNPR	10236	broad.mit.edu	37	1	23648083	23648083	+	Missense_Mutation	SNP	A	A	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:23648083A>C	uc001bgr.4	-	6	908	c.749T>G	c.(748-750)gTt>gGt	p.V250G	HNRNPR_uc010odw.2_Missense_Mutation_p.V212G|HNRNPR_uc009vql.3_Missense_Mutation_p.V111G|HNRNPR_uc001bgp.4_Missense_Mutation_p.V250G|HNRNPR_uc001bgs.4_Missense_Mutation_p.V149G|HNRNPR_uc009vqk.3_Missense_Mutation_p.V149G|HNRNPR_uc010odx.2_Missense_Mutation_p.V90G	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	250	RRM 2.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AATGGATCCAACAAAAAGTCT	0.363													C	23648083	A	C	23648083	3	2	123	1	0	0	0	0	1	0	0	0	7272	43	2	5	1181	5	HNRNPR	1	23648083	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	6869745	23648083	225602538	2	8249											
PUM1	9698	broad.mit.edu	37	1	31406150	31406150	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:31406150C>T	uc001bsi.1	-	21	3582	c.3469G>A	c.(3469-3471)Ggc>Agc	p.G1157S	PUM1_uc001bsf.1_Missense_Mutation_p.G825S|PUM1_uc001bsh.1_Missense_Mutation_p.G1159S|PUM1_uc001bsj.1_Missense_Mutation_p.G1133S|PUM1_uc010oga.1_Missense_Mutation_p.G1015S|PUM1_uc001bsk.1_Missense_Mutation_p.G1195S|PUM1_uc010ogb.1_Missense_Mutation_p.G1098S	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1157	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGTGCTTGCCATAGGTGTAC	0.537													T	31406150	C	T	31406150	3	4	123	1	0	0	0	0	1	0	0	0	12825	594	21	3	95	3	PUM1	1	31406150	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	7758067	31406150	217844471	3	8250											
KCNQ4	9132	broad.mit.edu	37	1	41285881	41285881	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:41285881C>T	uc001cgh.2	+	6	1072	c.990C>T	c.(988-990)caC>caT	p.H330H	KCNQ4_uc001cgi.2_Silent_p.H330H	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	330					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGGAGCAGCACCGGCAGAAGC	0.617													T	41285881	C	T	41285881	2	4	123	1	0	0	0	0	0	0	0	1	8085	506	18	3		3	KCNQ4	1	41285881	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	9879731	41285881	207964740	4	8251											
AMPD1	270	broad.mit.edu	37	1	115215817	115215817	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:115215817G>T	uc001efe.2	-	15	2309	c.2261C>A	c.(2260-2262)gCc>gAc	p.A754D	DENND2C_uc001eez.3_5'Flank|AMPD1_uc001eff.2_Missense_Mutation_p.A750D	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	721					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCGGATTTGGGCTACATTTGT	0.398													T	115215817	G	T	115215817	3	4	123	1	0	0	0	0	1	0	0	0	585	1203	42	5	85	5	AMPD1	1	115215817	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	73929936	115215817	134034804	5	8252											
PDE4DIP	9659	broad.mit.edu	37	1	144882550	144882550	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:144882550G>A	uc021ouh.1	-	23	3771	c.3469C>T	c.(3469-3471)Cct>Tct	p.P1157S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.P1157S|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Missense_Mutation_p.P164S	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1157					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTTCCCAGGGGAACCAACC	0.522			T	PDGFRB	MPD								A	144882550	G	A	144882550	3	1	123	1	0	0	0	0	1	0	0	0	11643	1232	43	3	3655	3	PDE4DIP	1	144882550	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	29666733	144882550	104368071	6	8253											
IQGAP3	128239	broad.mit.edu	37	1	156532968	156532968	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:156532968C>T	uc001fpf.3	-	7	831	c.756G>A	c.(754-756)ctG>ctA	p.L252L	IQGAP3_uc009wsb.1_Silent_p.L209L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	252					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGCCTGGGCCAGCATCTCTT	0.572													T	156532968	C	T	156532968	2	4	123	1	0	0	0	0	0	0	0	1	7816	581	21	3		3	IQGAP3	1	156532968	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	11650418	156532968	92717653	7	8254											
KCNT2	343450	broad.mit.edu	37	1	196227421	196227421	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:196227421C>A	uc001gtd.1	-	25	3174	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.Q971H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q1014H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.Q542H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1038						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			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						TCAGTCGCTGCTGGGTTATTT	0.468													A	196227421	C	A	196227421	3	1	123	1	0	0	0	0	1	0	0	0	8092	796	28	5	305	5	KCNT2	1	196227421	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	39694453	196227421	53023200	8	8255											
MXD1	4084	broad.mit.edu	37	2	70164461	70164461	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:70164461T>C	uc002sfy.3	+	4	703	c.413T>C	c.(412-414)aTt>aCt	p.I138T	MXD1_uc010yqp.2_Missense_Mutation_p.I138T|MXD1_uc010yqs.2_Missense_Mutation_p.I128T|MXD1_uc010yqq.2_Missense_Mutation_p.I75T|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_5'Flank	NM_002357	NP_002348	Q05195	MAD1_HUMAN	Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.	138					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AAGCTGGGCATTGAGAGGATC	0.577													C	70164461	T	C	70164461	3	2	123	1	0	0	0	0	1	0	0	0	9999	1493	52	4	431	4	MXD1	2	70164461	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08		70164461	173034912	9	8256											
C2orf51	200523	broad.mit.edu	37	2	88828848	88828848	+	Silent	SNP	G	G	A	rs148580273		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:88828848G>A	uc002stb.2	+	3	541	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	133						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						CTGACTTTCCGTGCCTCGTGG	0.572													A	88828848	G	A	88828848	2	1	123	1	0	0	0	0	0	0	0	1	2173	1132	40	1		1	C2orf51	2	88828848	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	18664387	88828848	154370525	10	8257											
NMS	129521	broad.mit.edu	37	2	101089991	101089991	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:101089991G>A	uc002tan.1	+	2	180	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	58					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.R58S(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CCTCTTTCTCGCCAACCTAAG	0.343													A	101089991	G	A	101089991	3	1	123	1	0	0	0	0	1	0	0	0	10502	1087	38	1	183	1	NMS	2	101089991	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	12261143	101089991	142109382	11	8258											
TTN	7273	broad.mit.edu	37	2	179457532	179457532	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:179457532G>A	uc021vsy.1	-	248	51835	c.51610C>T	c.(51610-51612)Ccg>Tcg	p.P17204S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10899S|TTN_uc021vta.1_Missense_Mutation_p.P10832S|TTN_uc021vtb.1_Missense_Mutation_p.P10707S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18131	Fibronectin type-III 24.						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)			ACTGGCTCCGGAACATGAGCT	0.408													A	179457532	G	A	179457532	3	1	123	1	0	0	0	0	1	0	0	0	16732	1174	41	3	48917	3	TTN	2	179457532	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	78367541	179457532	63741841	12	8259											
FN1	2335	broad.mit.edu	37	2	216288171	216288171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:216288171delG	uc002vfa.3	-	8	1561	c.1295delC	c.(1294-1296)actfs	p.T432fs	FN1_uc002vfc.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfe.3_Frame_Shift_Del_p.T432fs|FN1_uc002vff.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfg.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfh.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfi.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfj.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfb.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfl.3_Frame_Shift_Del_p.T432fs	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	432	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGCAATCAGTGTAATTGTG	0.488													-	216288171	G	-	216288171	7	5	123	1	0	1	0	1	0	0	0	0	5962	1029	36	0	6323	0	FN1	2	216288171	Frame_Shift_Del	DEL	G	TCGA-12-5295-01A-01D-1486-08	36830639	216288171	26911202	13	8260											
ZFAND2B	130617	broad.mit.edu	37	2	220073015	220073015	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:220073015A>G	uc002vka.3	+	4	644	c.472A>G	c.(472-474)Aca>Gca	p.T158A	ZFAND2B_uc010zkt.2_Missense_Mutation_p.T158A|ZFAND2B_uc010fwd.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vjz.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vkb.1_Missense_Mutation_p.T49A	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	158						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGGCTTCTACAAGCACTGT	0.552													G	220073015	A	G	220073015	3	3	123	1	0	0	0	0	1	0	0	0	17625	391	14	4	490	4	ZFAND2B	2	220073015	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	3784844	220073015	23126358	14	8261											
SP110	3431	broad.mit.edu	37	2	231042927	231042927	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:231042927G>T	uc002vqg.3	-	12	1633	c.1393C>A	c.(1393-1395)Ccc>Acc	p.P465T	SP110_uc002vqh.3_Missense_Mutation_p.P465T|SP110_uc002vqi.4_Missense_Mutation_p.P465T|SP110_uc010fxk.3_Missense_Mutation_p.P463T|SP110_uc021vxx.1_Missense_Mutation_p.P471T|SP110_uc010fxj.3_Missense_Mutation_p.P108T	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	465	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CAGGTCACGGGGAGCTTAGAA	0.413													T	231042927	G	T	231042927	3	4	123	1	0	0	0	0	1	0	0	0	14961	1232	43	5	840	5	SP110	2	231042927	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	10969912	231042927	12156446	15	8262											
RYBP	23429	broad.mit.edu	37	3	72427619	72427619	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:72427619C>T	uc003dpe.3	-	3	574	c.574G>A	c.(574-576)Ggg>Agg	p.G192R		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.	202	Interaction with E4TF1B.|Ser-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CTCTCTGACCCCGAGCTGCTC	0.512													T	72427619	C	T	72427619	3	4	123	1	0	0	0	0	1	0	0	0	13766	623	22	3	86	3	RYBP	3	72427619	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		72427619	125594811	16	8263											
NUDT16	131870	broad.mit.edu	37	3	131101062	131101062	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:131101062C>T	uc003eog.2	+	1	351	c.311C>T	c.(310-312)cCa>cTa	p.P104L	LOC339874_uc003eoc.2_5'Flank|NUDT16_uc021xeb.1_Missense_Mutation_p.P58L|NUDT16_uc021xec.1_Missense_Mutation_p.P104L|NUDT16_uc011bln.2_Missense_Mutation_p.P58L	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16 (NUDT16), transcript variant 2, mRNA.	104	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						GGGTCAGGGCCACGCGTTGTG	0.692													T	131101062	C	T	131101062	3	4	123	1	0	0	0	0	1	0	0	0	10732	594	21	3	317	3	NUDT16	3	131101062	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	58673443	131101062	66921368	17	8264											
SPSB4	92369	broad.mit.edu	37	3	140866045	140866045	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:140866045G>A	uc003ett.3	+	2	1001	c.756G>A	c.(754-756)caG>caA	p.Q252Q	SPSB4_uc010hum.3_3'UTR	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	252	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGGGCCGCCAGCGCCTGCAGG	0.617													A	140866045	G	A	140866045	2	1	123	1	0	0	0	0	0	0	0	1	15114	962	34	3		3	SPSB4	3	140866045	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	9764983	140866045	57156385	18	8265											
DRD5	1816	broad.mit.edu	37	4	9783859	9783859	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:9783859G>A	uc003gmb.4	+	0	602	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	69					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTGCGGAGCCGCCACCTGCGC	0.647													A	9783859	G	A	9783859	3	1	123	1	0	0	0	0	1	0	0	0	4760	1087	38	1	208	1	DRD5	4	9783859	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		9783859	181370417	19	8266											
FGFBP1	9982	broad.mit.edu	37	4	15938124	15938124	+	Silent	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:15938124G>T	uc003gom.3	-	2	427	c.132C>A	c.(130-132)ggC>ggA	p.G44G	FGFBP1_uc021xml.1_Silent_p.G44G	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	44					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TCTGGGTGTTGCCCAGAGTGT	0.517													T	15938124	G	T	15938124	2	4	123	1	0	0	0	0	0	0	0	1	5860	1306	46	5		5	FGFBP1	4	15938124	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	6154265	15938124	175216152	20	8267											
RFC1	5981	broad.mit.edu	37	4	39306546	39306546	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:39306546C>A	uc003gty.2	-	14	2141	c.2001G>T	c.(1999-2001)gaG>gaT	p.E667D	RFC1_uc003gtx.2_Missense_Mutation_p.E666D	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	667					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTATCCCAACTCCTAATCAA	0.433													A	39306546	C	A	39306546	3	1	123	1	0	0	0	0	1	0	0	0	13244	564	20	5	1489	5	RFC1	4	39306546	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	23368422	39306546	151847730	21	8268											
LIMCH1	22998	broad.mit.edu	37	4	41621353	41621353	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:41621353G>A	uc003gvz.4	+	5	771	c.354G>A	c.(352-354)acG>acA	p.T118T	LIMCH1_uc003gvt.1_Silent_p.T118T|LIMCH1_uc003gwe.4_Silent_p.T277T|LIMCH1_uc003gvu.4_Silent_p.T277T|LIMCH1_uc003gvv.4_Silent_p.T277T|LIMCH1_uc003gvw.4_Silent_p.T277T|LIMCH1_uc003gvx.4_Silent_p.T277T|LIMCH1_uc003gvy.4_Silent_p.T118T|LIMCH1_uc003gwa.4_Silent_p.T118T|LIMCH1_uc011byu.2_Silent_p.T123T|LIMCH1_uc003gwc.4_Silent_p.T123T|LIMCH1_uc003gwd.4_Silent_p.T123T|LIMCH1_uc011byv.2_Silent_p.T28T|LIMCH1_uc003gwb.1_Silent_p.T125T	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	277	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCAATCAGACGGCCTACGTCC	0.567													A	41621353	G	A	41621353	2	1	123	1	0	0	0	0	0	0	0	1	8797	1103	39	2		2	LIMCH1	4	41621353	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	2314807	41621353	149532923	22	8269											
UGT2B11	10720	broad.mit.edu	37	4	70080048	70080048	+	Silent	SNP	A	A	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:70080048A>C	uc003heh.3	-	0	402	c.393T>G	c.(391-393)gtT>gtG	p.V131V	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	131					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTATTTGAAACTACATCTT	0.343													C	70080048	A	C	70080048	2	2	123	1	0	0	0	0	0	0	0	1	16954	1	1	5		5	UGT2B11	4	70080048	Silent	SNP	A	TCGA-12-5295-01A-01D-1486-08	28458695	70080048	121074228	23	8270											
FRAS1	80144	broad.mit.edu	37	4	79295398	79295398	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:79295398A>T	uc003hlb.2	+	24	3584	c.3144A>T	c.(3142-3144)aaA>aaT	p.K1048N	FRAS1_uc003hkw.3_Missense_Mutation_p.K1048N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1047					cell communication	integral to membrane|plasma membrane	metal ion binding			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						CAAAGCACAAATGCACAGGTA	0.473													T	79295398	A	T	79295398	3	4	123	1	0	0	0	0	1	0	0	0	6042	98	4	5	3242	5	FRAS1	4	79295398	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	9215350	79295398	111858878	24	8271											
NDST4	64579	broad.mit.edu	37	4	115767016	115767016	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:115767016A>G	uc003ibu.3	-	9	2757	c.2078T>C	c.(2077-2079)cTc>cCc	p.L693P	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	693	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGGTCAATGAGGATGGTGAT	0.428													G	115767016	A	G	115767016	3	3	123	1	0	0	0	0	1	0	0	0	10258	304	11	4	560	4	NDST4	4	115767016	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	36471618	115767016	75387260	25	8272											
ODZ3	55714	broad.mit.edu	37	4	183658027	183658027	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:183658027G>T	uc003ivd.1	+	15	3109	c.3034G>T	c.(3034-3036)Gca>Tca	p.A1012S	ODZ3_uc003ive.1_Missense_Mutation_p.A418S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1012					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTCCAGAGCTGCAGGGTATAA	0.388													T	183658027	G	T	183658027	3	4	123	1	0	0	0	0	1	0	0	0	10836	1319	46	5	3096	5	ODZ3	4	183658027	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	67891011	183658027	7496249	26	8273											
TRIML1	339976	broad.mit.edu	37	4	189063477	189063477	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:189063477G>C	uc003izm.1	+	2	691	c.576G>C	c.(574-576)gaG>gaC	p.E192D	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	192					multicellular organismal development		ligase activity|zinc ion binding			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)		TGAAGGAAGAGGAGCAGCTGC	0.438													C	189063477	G	C	189063477	3	2	123	1	0	0	0	0	1	0	0	0	16547	991	35	5	586	5	TRIML1	4	189063477	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	5405450	189063477	2090799	27	8274											
G3BP1	10146	broad.mit.edu	37	5	151180343	151180343	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:151180343G>T	uc003lun.3	+	10	1278	c.1107G>T	c.(1105-1107)ttG>ttT	p.L369F	G3BP1_uc003lum.3_Missense_Mutation_p.L369F|G3BP1_uc011dcu.2_Missense_Mutation_p.L187F|G3BP1_uc010jhz.3_Missense_Mutation_p.L187F|G3BP1_uc003luq.3_Missense_Mutation_p.L37F	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	369	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TGGTGGAGTTGCGCATTAACA	0.388													T	151180343	G	T	151180343	3	4	123	1	0	0	0	0	1	0	0	0	6141	1310	46	5	1145	5	G3BP1	5	151180343	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		151180343	29734917	28	8275											
GRIA1	2890	broad.mit.edu	37	5	153030021	153030021	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:153030021C>T	uc011dcy.2	+	3	649	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	GRIA1_uc003lva.4_Missense_Mutation_p.R198W|GRIA1_uc003luy.4_Missense_Mutation_p.R198W|GRIA1_uc003luz.4_Missense_Mutation_p.R103W|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R118W|GRIA1_uc011dcx.2_Missense_Mutation_p.R129W|GRIA1_uc011dcz.2_Missense_Mutation_p.R208W|GRIA1_uc010jia.1_Missense_Mutation_p.R178W	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	198					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding	p.R208C(2)|p.R208R(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAAAAGGAGCGGCTGGTGGT	0.542													T	153030021	C	T	153030021	3	4	123	1	0	0	0	0	1	0	0	0	6767	759	27	1	606	1	GRIA1	5	153030021	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	1849678	153030021	27885239	29	8276											
CCNG1	900	broad.mit.edu	37	5	162869506	162869506	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:162869506C>T	uc003lzb.3	+	5	1057	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	CCNG1_uc011dek.1_Missense_Mutation_p.R139W|CCNG1_uc011del.2_Missense_Mutation_p.R139W|CCNG1_uc003lzc.3_Non-coding_Transcript	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.	275				RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903).	cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GCGTACTGCACGGCAATTGAA	0.378													T	162869506	C	T	162869506	3	4	123	1	0	0	0	0	1	0	0	0	2923	527	19	1	841	1	CCNG1	5	162869506	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	9839485	162869506	18045754	30	8277											
PPP1R11	6992	broad.mit.edu	37	6	30035220	30035220	+	Silent	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:30035220C>A	uc003npb.3	+	0	289	c.33C>A	c.(31-33)acC>acA	p.T11T	PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	NM_021959	NP_068778	O60927	PP1RB_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.	11						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						TGAGCGAGACCGTCACTGAGA	0.632													A	30035220	C	A	30035220	2	1	123	1	0	0	0	0	0	0	0	1	12353	639	23	5		5	PPP1R11	6	30035220	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08		30035220	141079847	31	8278											
ENPP4	22875	broad.mit.edu	37	6	46107333	46107333	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:46107333G>C	uc003oxy.3	+	1	272	c.13G>C	c.(13-15)Gta>Cta	p.V5L		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	5						integral to membrane	hydrolase activity	p.L4L(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GAAGTTATTAGTAATACTTTT	0.343													C	46107333	G	C	46107333	3	2	123	1	0	0	0	0	1	0	0	0	5132	1029	36	5	15	5	ENPP4	6	46107333	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	16072113	46107333	125007734	32	8279											
COL9A1	1297	broad.mit.edu	37	6	71004007	71004007	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:71004007C>T	uc003pfg.4	-	4	718	c.559G>A	c.(559-561)Gtg>Atg	p.V187M		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	187	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.V187L(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCCTCTCCACGCCAATCATG	0.433													T	71004007	C	T	71004007	3	4	123	1	0	0	0	0	1	0	0	0	3707	536	19	1	2418	1	COL9A1	6	71004007	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	24896674	71004007	100111060	33	8280											
TTK	7272	broad.mit.edu	37	6	80741263	80741263	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:80741263G>A	uc003pjc.3	+	13	1712	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	TTK_uc003pjb.4_Missense_Mutation_p.G533E	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	534	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATAGGAAGTGGAGGTTCAAGC	0.279													A	80741263	G	A	80741263	3	1	123	1	0	0	0	0	1	0	0	0	16717	1174	41	3	1651	3	TTK	6	80741263	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	9737256	80741263	90373804	34	8281											
TMEM181	57583	broad.mit.edu	37	6	159050767	159050767	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:159050767G>A	uc003qrm.4	+	14	1620	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K		NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	Homo sapiens transmembrane protein 181 (TMEM181), mRNA.	537					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		ACCACCAGCCGAGTTCTTATC	0.542													A	159050767	G	A	159050767	3	1	123	1	0	0	0	0	1	0	0	0	16097	1059	37	2	1667	2	TMEM181	6	159050767	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	78309504	159050767	12064300	35	8282											
FKBP9	11328	broad.mit.edu	37	7	33044873	33044873	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:33044873G>A	uc011kal.2	+	10	1963	c.1782G>A	c.(1780-1782)atG>atA	p.M594I	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.M541I|FKBP9_uc011kam.2_Missense_Mutation_p.M309I	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	541					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGAAGAATATGTTCACCAACC	0.493													A	33044873	G	A	33044873	3	1	123	1	0	0	0	0	1	0	0	0	5915	1377	48	3	1661	3	FKBP9	7	33044873	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		33044873	126093790	36	8283											
STK17A	9263	broad.mit.edu	37	7	43622866	43622866	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:43622866C>T	uc003tih.3	+	0	175	c.24C>T	c.(22-24)ggC>ggT	p.G8G		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.	8					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AGAAGCCAGGCAGCGGCGGCT	0.766													T	43622866	C	T	43622866	2	4	123	1	0	0	0	0	0	0	0	1	15289	697	25	3		3	STK17A	7	43622866	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	10577993	43622866	115515797	37	8284											
SLC26A5	375611	broad.mit.edu	37	7	103048353	103048353	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:103048353A>T	uc003vbz.3	-	7	1095	c.833T>A	c.(832-834)tTt>tAt	p.F278Y	SLC26A5_uc003vbt.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbu.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbv.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F278Y	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	278					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCTCTCATTAAACTCCTTGCC	0.468													T	103048353	A	T	103048353	3	4	123	1	0	0	0	0	1	0	0	0	14520	14	1	5	1494	5	SLC26A5	7	103048353	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	59425487	103048353	56090310	38	8285											
CFTR	1080	broad.mit.edu	37	7	117306983	117306983	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:117306983C>T	uc003vjd.3	+	26	4396	c.4264C>T	c.(4264-4266)Cgg>Tgg	p.R1422W	CFTR_uc011knq.2_Missense_Mutation_p.R828W	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1422	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAACAAAGTGCGGCAGTACGA	0.552									Cystic Fibrosis				T	117306983	C	T	117306983	3	4	123	1	0	0	0	0	1	0	0	0	3294	759	27	1	4370	1	CFTR	7	117306983	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	14258630	117306983	41831680	39	8286											
KIAA1549	57670	broad.mit.edu	37	7	138546043	138546043	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:138546043G>C	uc011kql.2	-	15	5138	c.5089C>G	c.(5089-5091)Ctc>Gtc	p.L1697V	KIAA1549_uc011kqi.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqk.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqj.2_Missense_Mutation_p.L1697V	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1697						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGGCCACGAGGGCAAAGGCG	0.697			O	BRAF	pilocytic astrocytoma								C	138546043	G	C	138546043	3	2	123	1	0	0	0	0	1	0	0	0	8244	1000	35	5	783	5	KIAA1549	7	138546043	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	21239060	138546043	20592620	40	8287											
PARP12	64761	broad.mit.edu	37	7	139727128	139727128	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:139727128C>A	uc003vvl.1	-	9	2450	c.1576G>T	c.(1576-1578)Gtt>Ttt	p.V526F	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	526	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATCTTCTGAACAAAGTAGAAA	0.512													A	139727128	C	A	139727128	3	1	123	1	0	0	0	0	1	0	0	0	11457	478	17	5	541	5	PARP12	7	139727128	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	1181085	139727128	19411535	41	8288											
OR2A14	135941	broad.mit.edu	37	7	143826811	143826811	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:143826811C>T	uc011kua.2	+	0	606	c.606C>T	c.(604-606)tgC>tgT	p.C202C		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TTGCAGCCTGCGTGTTCATCC	0.577													T	143826811	C	T	143826811	2	4	123	1	0	0	0	0	0	0	0	1	10976	776	27	1		1	OR2A14	7	143826811	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	4099683	143826811	15311852	42	8289											
CNTNAP2	26047	broad.mit.edu	37	7	147092850	147092850	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:147092850G>C	uc003weu.2	+	9	2164	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	550	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.D550N(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTCAGCATTGACATGTGTGC	0.428										HNSCC(39;0.1)			C	147092850	G	C	147092850	3	2	123	1	0	0	0	0	1	0	0	0	3647	1290	45	5	1686	5	CNTNAP2	7	147092850	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	3266039	147092850	12045813	43	8290											
DLC1	10395	broad.mit.edu	37	8	13251148	13251148	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:13251148G>A	uc003wwm.2	-	3	1672	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DLC1_uc003wwn.3_Nonsense_Mutation_p.R410*|DLC1_uc011kxy.2_Nonsense_Mutation_p.R410*	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	410					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.R410L(4)|p.R410*(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAATTTACTCGTGTCTGATTT	0.423													A	13251148	G	A	13251148	4	1	123	1	0	0	0	0	0	1	0	0	4550	1153	40	1	3503	1	DLC1	8	13251148	Nonsense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		13251148	133112874	44	8291											
MTUS1	57509	broad.mit.edu	37	8	17573333	17573333	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:17573333A>G	uc003wxv.3	-	4	3001	c.2527T>C	c.(2527-2529)Tat>Cat	p.Y843H	MTUS1_uc003wxt.3_Missense_Mutation_p.Y90H|MTUS1_uc011kyg.2_5'UTR|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.Y789H	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	843						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGCTTCAAATAAAAGGATCCT	0.428													G	17573333	A	G	17573333	3	3	123	1	0	0	0	0	1	0	0	0	9965	362	13	4	1454	4	MTUS1	8	17573333	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	4322185	17573333	128790689	45	8292											
ATAD2	29028	broad.mit.edu	37	8	124382139	124382139	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:124382139C>T	uc003yqh.4	-	6	961	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ATAD2_uc011lii.2_Missense_Mutation_p.D76N|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.D285N	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	285	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tcttctccatcttcttcatct	0.358													T	124382139	C	T	124382139	3	4	123	1	0	0	0	0	1	0	0	0	1071	913	32	3	3407	3	ATAD2	8	124382139	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	106808806	124382139	21981883	46	8293											
FREM1	158326	broad.mit.edu	37	9	14789086	14789086	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:14789086G>A	uc003zlm.3	-	23	4824	c.4008C>T	c.(4006-4008)tcC>tcT	p.S1336S	FREM1_uc010mic.3_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1336					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATGCCAGGGGAGAGAGGAA	0.493													A	14789086	G	A	14789086	2	1	123	1	0	0	0	0	0	0	0	1	6044	1219	43	3		3	FREM1	9	14789086	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08		14789086	126424345	47	8294											
TEK	7010	broad.mit.edu	37	9	27205000	27205000	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:27205000G>A	uc011lno.2	+	12	2614	c.2172G>A	c.(2170-2172)ctG>ctA	p.L724L	TEK_uc003zqi.4_Silent_p.L767L|TEK_uc011lnp.2_Silent_p.L620L|TEK_uc003zqj.1_Silent_p.L701L	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	767	Fibronectin type-III 3.		A -> T (in dbSNP:rs4631561).		angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P723T(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGGCCTTTCTGATCATATTGC	0.517													A	27205000	G	A	27205000	2	1	123	1	0	0	0	0	0	0	0	1	15748	1277	45	3		3	TEK	9	27205000	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	12415914	27205000	114008431	48	8295											
UBAP1	51271	broad.mit.edu	37	9	34234331	34234331	+	Frame_Shift_Del	DEL	A	A	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:34234331delA	uc022bfy.1	+	3	550	c.152delA	c.(151-153)gaafs	p.E51fs	UBAP1_uc010mka.2_Intron|UBAP1_uc003zty.3_Frame_Shift_Del_p.E51fs|UBAP1_uc022bfz.1_Frame_Shift_Del_p.E51fs|UBAP1_uc003ztx.3_Frame_Shift_Del_p.E51fs|UBAP1_uc011loj.2_Frame_Shift_Del_p.E115fs|UBAP1_uc011loi.2_Intron|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Frame_Shift_Del_p.E51fs	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	51	UMA.					cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GTTGTCAGAGAAGTACAGGTA	0.338													-	34234331	A	-	34234331	7	5	123	1	0	1	0	1	0	0	0	0	16833	246	9	0	395	0	UBAP1	9	34234331	Frame_Shift_Del	DEL	A	TCGA-12-5295-01A-01D-1486-08	7029331	34234331	106979100	49	8296											
VPS13A	23230	broad.mit.edu	37	9	79985216	79985216	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:79985216T>C	uc004akr.3	+	63	8971	c.8711T>C	c.(8710-8712)cTa>cCa	p.L2904P	VPS13A_uc004akp.4_Missense_Mutation_p.L2904P|VPS13A_uc004akq.4_Missense_Mutation_p.L2904P|VPS13A_uc004aks.3_Missense_Mutation_p.L2865P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2904					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAATGGCACTAGGACTTAAG	0.383													C	79985216	T	C	79985216	3	2	123	1	0	0	0	0	1	0	0	0	17186	1522	53	4	8965	4	VPS13A	9	79985216	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08	45750885	79985216	61228215	50	8297											
BTAF1	9044	broad.mit.edu	37	10	93756207	93756207	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:93756207G>A	uc001khr.3	+	23	3489	c.3391G>A	c.(3391-3393)Ggt>Agt	p.G1131S	BTAF1_uc001kht.1_Missense_Mutation_p.G569S	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1131					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCGTTGTGTAGGTGTCATGAG	0.423													A	93756207	G	A	93756207	3	1	123	1	0	0	0	0	1	0	0	0	1536	1000	35	3	3485	3	BTAF1	10	93756207	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		93756207	41778540	51	8298											
CYP2C19	1562	broad.mit.edu	37	10	96447958	96447958	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:96447958G>A	uc001kjv.4	+	2	734	c.408G>A	c.(406-408)atG>atA	p.M136I	CYP2C19_uc001kjw.4_Missense_Mutation_p.M136I|CYP2C19_uc009xus.1_Missense_Mutation_p.M1I|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	136					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATTTTGGGATGGGGAAGAGGA	0.478													A	96447958	G	A	96447958	3	1	123	1	0	0	0	0	1	0	0	0	4166	1348	47	3		3	CYP2C19	10	96447958	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	2691751	96447958	39086789	52	8299											
TDRD1	56165	broad.mit.edu	37	10	115947725	115947725	+	Silent	SNP	A	A	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:115947725A>G	uc001lbg.1	+	1	288	c.135A>G	c.(133-135)ggA>ggG	p.G45G	TDRD1_uc001lbf.3_Silent_p.G36G|TDRD1_uc001lbh.1_Silent_p.G36G|TDRD1_uc001lbi.1_Silent_p.G36G	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	45					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAGTCCTGGAACACTTCCTA	0.358													G	115947725	A	G	115947725	2	3	123	1	0	0	0	0	0	0	0	1	15727	233	9	4		4	TDRD1	10	115947725	Silent	SNP	A	TCGA-12-5295-01A-01D-1486-08	19499767	115947725	19587022	53	8300											
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:1629152C>G	uc001ltw.1	-	0	542	c.464G>C	c.(463-465)tGc>tCc	p.C155S	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627													G	1629152	C	G	1629152	3	3	123	1	0	0	0	0	1	0	0	0	8562	710	25	5	256	5	KRTAP5-3	11	1629152	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		1629152	133377364	54	8301	12	2									
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:1629156T>A	uc001ltw.1	-	0	538	c.460A>T	c.(460-462)Agc>Tgc	p.S154C	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	154	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627													A	1629156	T	A	1629156	3	1	123	1	0	0	0	0	1	0	0	0	8562	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08	4	1629156	133377360	55	8302	12	2									
OR51G1	79324	broad.mit.edu	37	11	4945317	4945317	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:4945317C>T	uc010qyr.2	-	0	253	c.253G>A	c.(253-255)Ggc>Agc	p.G85S		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAAAATGCCCAGCACAGTG	0.483													T	4945317	C	T	4945317	3	4	123	1	0	0	0	0	1	0	0	0	11098	623	22	3	714	3	OR51G1	11	4945317	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	3316161	4945317	130061199	56	8303											
OR10A6	390093	broad.mit.edu	37	11	7949483	7949483	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:7949483C>T	uc010rbh.2	-	0	727	c.727G>A	c.(727-729)Gct>Act	p.A243T		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGAGGTGAGCGGCACAGGTG	0.453													T	7949483	C	T	7949483	3	4	123	1	0	0	0	0	1	0	0	0	10894	768	27	1	220	1	OR10A6	11	7949483	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	3004166	7949483	127057033	57	8304											
KCNA4	3739	broad.mit.edu	37	11	30033870	30033870	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:30033870C>T	uc021qfi.1	-	0	356	c.356G>A	c.(355-357)aGg>aAg	p.R119K	KCNA4_uc001msk.3_Missense_Mutation_p.R119K	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	119						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTCAGCTCCCTCAGGATCTT	0.542													T	30033870	C	T	30033870	3	4	123	1	0	0	0	0	1	0	0	0	8005	681	24	3	1609	3	KCNA4	11	30033870	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	22084387	30033870	104972646	58	8305											
EHBP1L1	254102	broad.mit.edu	37	11	65349460	65349460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:65349460delA	uc001oeo.4	+	8	1582	c.1317delA	c.(1315-1317)ggafs	p.G439fs		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	439										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACACTAAGGGACCAGAGGCGA	0.597													-	65349460	A	-	65349460	7	5	123	1	0	1	0	1	0	0	0	0	4976	262	10	0	1351	0	EHBP1L1	11	65349460	Frame_Shift_Del	DEL	A	TCGA-12-5295-01A-01D-1486-08	35315590	65349460	69657056	59	8306											
ODZ4	26011	broad.mit.edu	37	11	78380300	78380300	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:78380300C>T	uc001ozl.4	-	31	7553	c.7090G>A	c.(7090-7092)Ggg>Agg	p.G2364R	ODZ4_uc001ozk.4_Missense_Mutation_p.G589R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2364					signal transduction	integral to membrane		p.G2364V(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGAGGGGTCCCGATGTTGTCA	0.483													T	78380300	C	T	78380300	3	4	123	1	0	0	0	0	1	0	0	0	10837	652	23	2	1231	2	ODZ4	11	78380300	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	13030840	78380300	56626216	60	8307											
TMEM135	65084	broad.mit.edu	37	11	86778833	86778833	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:86778833C>A	uc001pch.3	+	1	441	c.239C>A	c.(238-240)gCc>gAc	p.A80D	TMEM135_uc010rtt.2_5'UTR|TMEM135_uc001pci.3_Missense_Mutation_p.A80D|TMEM135_uc001pcg.2_Missense_Mutation_p.A80D	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA.	80						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTAATGGGGCCTTGTATATG	0.358													A	86778833	C	A	86778833	3	1	123	1	0	0	0	0	1	0	0	0	16048	739	26	5	245	5	TMEM135	11	86778833	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	8398533	86778833	48227683	61	8308											
MTNR1B	4544	broad.mit.edu	37	11	92715081	92715081	+	Missense_Mutation	SNP	G	G	A	rs8192553	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:92715081G>A	uc001pdk.1	+	1	795	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	231			R -> H (in dbSNP:rs8192553).		G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTTCAGGCCCGCAGGAAAGCC	0.582													A	92715081	G	A	92715081	3	1	123	1	0	0	0	0	1	0	0	0	9952	1087	38	1	698	1	MTNR1B	11	92715081	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	5936248	92715081	42291435	62	8309											
ITPR2	3709	broad.mit.edu	37	12	26835518	26835518	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:26835518C>T	uc001rhg.3	-	11	1654	c.1237G>A	c.(1237-1239)Gtt>Att	p.V413I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	413	MIR 5.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTTAACATAACAGGCCTCTCT	0.388													T	26835518	C	T	26835518	3	4	123	1	0	0	0	0	1	0	0	0	7921	478	17	3	7052	3	ITPR2	12	26835518	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		26835518	107016377	63	8310											
CCNT1	904	broad.mit.edu	37	12	49086898	49086898	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:49086898G>A	uc001rsd.4	-	8	2422	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	CCNT1_uc009zkz.2_Missense_Mutation_p.S415L|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	700					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCCAGATCTCGAGGAGATTCC	0.507													A	49086898	G	A	49086898	3	1	123	1	0	0	0	0	1	0	0	0	2934	1059	37	2	85	2	CCNT1	12	49086898	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	22251380	49086898	84764997	64	8311											
ITGB7	3695	broad.mit.edu	37	12	53585372	53585372	+	Missense_Mutation	SNP	G	G	A	rs141610554	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:53585372G>A	uc009zmv.3	-	14	2436	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C	ITGB7_uc001scc.3_Missense_Mutation_p.R789C|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	789					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTGAAAGCGAGGATTGATG	0.507													A	53585372	G	A	53585372	3	1	123	1	0	0	0	0	1	0	0	0	7900	1058	37	2	35	2	ITGB7	12	53585372	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	4498474	53585372	80266523	65	8312											
LEMD3	23592	broad.mit.edu	37	12	65633734	65633734	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:65633734G>A	uc001ssl.2	+	6	1973	c.1947G>A	c.(1945-1947)ctG>ctA	p.L649L	LEMD3_uc009zqo.2_Silent_p.L648L	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	649					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTGTCGTTCTGCGTTACATGA	0.294													A	65633734	G	A	65633734	2	1	123	1	0	0	0	0	0	0	0	1	8721	1306	46	3		3	LEMD3	12	65633734	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	12048362	65633734	68218161	66	8313											
CCT2	10576	broad.mit.edu	37	12	69985894	69985894	+	Silent	SNP	T	T	G			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:69985894T>G	uc001svb.1	+	7	799	c.705T>G	c.(703-705)gcT>gcG	p.A235A	CCT2_uc010stl.1_Silent_p.A188A	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	235					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGAAAATGCTAAAATTCTTA	0.294													G	69985894	T	G	69985894	2	3	123	1	0	0	0	0	0	0	0	1	2953	1509	53	5		5	CCT2	12	69985894	Silent	SNP	T	TCGA-12-5295-01A-01D-1486-08	4352160	69985894	63866001	67	8314											
SCARB1	949	broad.mit.edu	37	12	125294730	125294730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:125294730C>A	uc001ugp.3	-	5	1085	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SCARB1_uc001ugm.4_Nonsense_Mutation_p.E278*|SCARB1_uc001ugn.4_Nonsense_Mutation_p.E278*|SCARB1_uc010tbd.2_Nonsense_Mutation_p.E278*|SCARB1_uc001ugo.4_Nonsense_Mutation_p.E278*	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	278					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGGCAGGCCTCCGGGCTGTAG	0.552													A	125294730	C	A	125294730	4	1	123	1	0	0	0	0	0	1	0	0	13881	864	30	5	849	5	SCARB1	12	125294730	Nonsense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	55308836	125294730	8557165	68	8315											
MYO16	23026	broad.mit.edu	37	13	109792874	109792874	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr13:109792874delG	uc010agk.2	+	31	4936	c.4314delG	c.(4312-4314)ctgfs	p.L1438fs	MYO16_uc001vqt.1_Frame_Shift_Del_p.L1416fs	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1416	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGAGATGCTGGGGCACGCGG	0.736													-	109792874	G	-	109792874	7	5	123	1	0	1	0	1	0	0	0	0	10064	1335	47	0	4370	0	MYO16	13	109792874	Frame_Shift_Del	DEL	G	TCGA-12-5295-01A-01D-1486-08		109792874	5377004	69	8316											
OR4K13	390433	broad.mit.edu	37	14	20502107	20502107	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:20502107G>A	uc010tkz.2	-	0	811	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AACACAGAAAGAATTTTATCT	0.378													A	20502107	G	A	20502107	3	1	123	1	0	0	0	0	1	0	0	0	11068	942	33	3	105	3	OR4K13	14	20502107	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		20502107	86847433	70	8317											
C14orf43	91748	broad.mit.edu	37	14	74203800	74203800	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:74203800G>A	uc010tud.1	-	1	1897	c.1650C>T	c.(1648-1650)gaC>gaT	p.D550D	C14orf43_uc001xot.3_Silent_p.D550D|C14orf43_uc001xou.3_Silent_p.D550D|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GACCCTTCCCGTCCTCATCAA	0.602													A	74203800	G	A	74203800	2	1	123	1	0	0	0	0	0	0	0	1	1774	1136	40	1		1	C14orf43	14	74203800	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	53701693	74203800	33145740	71	8318											
NUDT14	256281	broad.mit.edu	37	14	105642875	105642875	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:105642875A>T	uc010tyn.2	-	3	538	c.424T>A	c.(424-426)Tac>Aac	p.Y142N	NUDT14_uc001yqi.3_Non-coding_Transcript	NM_177533	NP_803877	O95848	NUD14_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.	142	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACTCACCAGTATGTGGCGACC	0.642										HNSCC(42;0.11)			T	105642875	A	T	105642875	3	4	123	1	0	0	0	0	1	0	0	0	10730	449	16	5	252	5	NUDT14	14	105642875	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	31439075	105642875	1706665	72	8319											
TJP1	7082	broad.mit.edu	37	15	30000963	30000963	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:30000963G>A	uc001zcr.3	-	24	5125	c.4650C>T	c.(4648-4650)caC>caT	p.H1550H	TJP1_uc010azl.3_Silent_p.H1538H|TJP1_uc001zcq.3_Silent_p.H1474H|TJP1_uc001zcs.3_Silent_p.H1470H	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1550					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAGAAGATTGTGATTGAATT	0.413													A	30000963	G	A	30000963	2	1	123	1	0	0	0	0	0	0	0	1	15926	1368	48	3		3	TJP1	15	30000963	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08		30000963	72530429	73	8320											
BAHD1	22893	broad.mit.edu	37	15	40750817	40750817	+	Missense_Mutation	SNP	C	C	T	rs144910683		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:40750817C>T	uc001zlu.2	+	1	225	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	BAHD1_uc001zlt.2_Missense_Mutation_p.R52C|BAHD1_uc010bbp.1_Missense_Mutation_p.R52C|BAHD1_uc001zlv.2_Missense_Mutation_p.R52C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	52					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CACAGGGCGCCGCAAGAATTA	0.632													T	40750817	C	T	40750817	3	4	123	1	0	0	0	0	1	0	0	0	1297	652	23	2	156	2	BAHD1	15	40750817	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	10749854	40750817	61780575	74	8321											
SLCO3A1	28232	broad.mit.edu	37	15	92690225	92690225	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:92690225C>T	uc002bqx.2	+	7	1725	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	SLCO3A1_uc002bqy.2_Silent_p.G508G|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.G450G	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	508	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			ATCTCACGGGCTGTGCGTGCC	0.557													T	92690225	C	T	92690225	2	4	123	1	0	0	0	0	0	0	0	1	14728	784	28	3		3	SLCO3A1	15	92690225	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	51939408	92690225	9841167	75	8322											
SSTR5	6755	broad.mit.edu	37	16	1129429	1129429	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr16:1129429C>T	uc021taf.1	+	1	632	c.561C>T	c.(559-561)aaC>aaT	p.N187N	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.N187N	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	187					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTACCTGCAACGCCAGCTGGC	0.692													T	1129429	C	T	1129429	2	4	123	1	0	0	0	0	0	0	0	1	15200	535	19	1		1	SSTR5	16	1129429	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08		1129429	89225324	76	8323											
MYH8	4626	broad.mit.edu	37	17	10295897	10295897	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr17:10295897G>A	uc002gmm.2	-	37	5625	c.5530C>T	c.(5530-5532)Cgg>Tgg	p.R1844W	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1844					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATGTTTCCGTAAACCTTTA	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10295897	G	A	10295897	3	1	123	1	0	0	0	0	1	0	0	0	10041	1144	40	1	295	1	MYH8	17	10295897	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		10295897	70899313	77	8324											
STAT3	6774	broad.mit.edu	37	17	40474479	40474479	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr17:40474479G>A	uc002hzl.1	-	20	2162	c.1922C>T	c.(1921-1923)aCa>aTa	p.T641I	STAT3_uc002hzk.1_Missense_Mutation_p.T641I|STAT3_uc002hzm.1_Missense_Mutation_p.T641I|STAT3_uc010wgh.1_Missense_Mutation_p.T543I|STAT3_uc002hzn.1_Missense_Mutation_p.T641I	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	641	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTGCTGCTTTGTGTATGGTTC	0.463									Hyperimmunoglobulin E Recurrent Infection Syndrome				A	40474479	G	A	40474479	3	1	123	1	0	0	0	0	1	0	0	0	15265	1377	48	3	406	3	STAT3	17	40474479	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	30178582	40474479	40720731	78	8325											
LRRC30	339291	broad.mit.edu	37	18	7231759	7231759	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr18:7231759T>C	uc010wzk.2	+	0	623	c.623T>C	c.(622-624)cTg>cCg	p.L208P		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	208										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCCAGCACCTGGCCAGCCTG	0.562													C	7231759	T	C	7231759	3	2	123	1	0	0	0	0	1	0	0	0	8985	1580	55	4	625	4	LRRC30	18	7231759	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08		7231759	70845489	79	8326											
DCC	1630	broad.mit.edu	37	18	50278484	50278484	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr18:50278484C>T	uc002lfe.2	+	1	768	c.152C>T	c.(151-153)aCa>aTa	p.T51I	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	51	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GATGCCGTCACAATGCGGGGA	0.498													T	50278484	C	T	50278484	3	4	123	1	0	0	0	0	1	0	0	0	4282	478	17	3	158	3	DCC	18	50278484	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	43046725	50278484	27798764	80	8327											
MUC16	94025	broad.mit.edu	37	19	9006685	9006685	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:9006685C>T	uc002mkp.3	-	43	39767	c.39563G>A	c.(39562-39564)gGc>gAc	p.G13188D	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G5D|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13190	SEA 8.				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						CTTCCTGGAGCCAGGGTGACC	0.527													T	9006685	C	T	9006685	3	4	123	1	0	0	0	0	1	0	0	0	9973	739	26	3	4124	3	MUC16	19	9006685	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		9006685	50122298	81	8328											
CYP2A13	1553	broad.mit.edu	37	19	41600897	41600897	+	Silent	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:41600897C>T	uc002opt.3	+	7	1204	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	399					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GGGCTCCGTGCTGAGAGACCC	0.557													T	41600897	C	T	41600897	2	4	123	1	0	0	0	0	0	0	0	1	4161	796	28	3		3	CYP2A13	19	41600897	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	32594212	41600897	17528086	82	8329											
PSG8	440533	broad.mit.edu	37	19	43258694	43258694	+	Missense_Mutation	SNP	C	C	T	rs148019273	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:43258694C>T	uc002ouo.2	-	4	1132	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.R345H|PSG8_uc010ein.3_Missense_Mutation_p.R223H|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	345	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCTCCTGAACGGTAATAGGT	0.473													T	43258694	C	T	43258694	3	4	123	1	0	0	0	0	1	0	0	0	12661	536	19	1	271	1	PSG8	19	43258694	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	1657797	43258694	15870289	83	8330											
CEACAM16	388551	broad.mit.edu	37	19	45208902	45208902	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:45208902G>T	uc010xxd.2	+	4	910	c.704G>T	c.(703-705)cGc>cTc	p.R235L		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	235										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCCACCACCCGCACAGGCTGC	0.612													T	45208902	G	T	45208902	3	4	123	1	0	0	0	0	1	0	0	0	3188	1087	38	5	718	5	CEACAM16	19	45208902	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	1950208	45208902	13920081	84	8331											
TEAD2	8463	broad.mit.edu	37	19	49862740	49862740	+	Silent	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:49862740G>A	uc002pnh.3	-	2	355	c.249C>T	c.(247-249)atC>atT	p.I83I	TEAD2_uc002png.3_Silent_p.I83I|TEAD2_uc002pni.3_Silent_p.I83I|TEAD2_uc002pnj.3_Silent_p.I83I|TEAD2_uc010yao.2_5'UTR|TEAD2_uc010emw.3_Silent_p.I83I	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	83					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TGTAGCGGGCGATCAGTTCAT	0.512													A	49862740	G	A	49862740	2	1	123	1	0	0	0	0	0	0	0	1	15736	1048	37	2		2	TEAD2	19	49862740	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	4653838	49862740	9266243	85	8332											
BMP2	650	broad.mit.edu	37	20	6758901	6758901	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr20:6758901A>T	uc002wmu.1	+	2	1141	c.356A>T	c.(355-357)gAa>gTa	p.E119V		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	119					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GAATCTTTGGAAGAACTACCA	0.363													T	6758901	A	T	6758901	3	4	123	1	0	0	0	0	1	0	0	0	1459	246	9	5	362	5	BMP2	20	6758901	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08		6758901	56266619	86	8333											
PLK1S1	55857	broad.mit.edu	37	20	21143040	21143040	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr20:21143040G>A	uc002wsb.3	+	4	1067	c.934G>A	c.(934-936)Gag>Aag	p.E312K	PLK1S1_uc010zsh.2_Missense_Mutation_p.E209K|PLK1S1_uc010zsi.2_Missense_Mutation_p.E179K|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	312					spindle organization	centrosome	protein kinase binding										TATTGAAGTTGAGGAAAAAAG	0.448													A	21143040	G	A	21143040	3	1	123	1	0	0	0	0	1	0	0	0	12095	1291	45	3	952	3	PLK1S1	20	21143040	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	14384139	21143040	41882480	87	8334											
FOXR2	139628	broad.mit.edu	37	X	55650313	55650313	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:55650313C>T	uc004duo.3	+	0	481	c.169C>T	c.(169-171)Cca>Tca	p.P57S		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	57					embryo development|organ development|pattern specification process|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AATGAAGCCCCCAGAAATGCC	0.517													T	55650313	C	T	55650313	3	4	123	1	0	0	0	0	1	0	0	0	6032	623	22	3	171	3	FOXR2	23	55650313	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		55650313	99620247	88	8335											
YIPF6	286451	broad.mit.edu	37	X	67742720	67742720	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:67742720C>A	uc004dwz.3	+	5	838	c.553C>A	c.(553-555)Ctt>Att	p.L185I	YIPF6_uc011mph.2_Missense_Mutation_p.L142I	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	185						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CATGGTTCGGCTTTTTGTGGT	0.408													A	67742720	C	A	67742720	3	1	123	1	0	0	0	0	1	0	0	0	17479	797	28	5	575	5	YIPF6	23	67742720	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	12092407	67742720	87527840	89	8336											
FAM199X	139231	broad.mit.edu	37	X	103434406	103434406	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:103434406T>C	uc004elw.3	+	5	1425	c.1114T>C	c.(1114-1116)Tcc>Ccc	p.S372P	FAM199X_uc004elx.3_Missense_Mutation_p.S146P	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.	372										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGAGGTGCTGTCCTTGAAAGT	0.473													C	103434406	T	C	103434406	3	2	123	1	0	0	0	0	1	0	0	0	5530	1667	58	4	1136	4	FAM199X	23	103434406	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08	35691686	103434406	51836154	90	8337											
COL4A5	1287	broad.mit.edu	37	X	107911614	107911614	+	Missense_Mutation	SNP	G	G	A	rs104886391		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:107911614G>A	uc022ccg.1	+	40	3872	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	COL4A5_uc004enz.1_Missense_Mutation_p.E1224K	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1224	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCAAAGGGCGAACCAGGCTT	0.532									Alport syndrome with Diffuse Leiomyomatosis				A	107911614	G	A	107911614	3	1	123	1	0	0	0	0	1	0	0	0	3694	1059	37	2	3832	2	COL4A5	23	107911614	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	4477208	107911614	47358946	91	8338											
ZNF275	10838	broad.mit.edu	37	X	152613030	152613030	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:152613030C>T	uc011myn.2	+	1	1600	c.698C>T	c.(697-699)cCc>cTc	p.P233L	ZNF275_uc004fhg.2_Missense_Mutation_p.P296L|ZNF275_uc022cht.1_Missense_Mutation_p.P233L|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	296						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACGGGTGTCCCCACTGCGGC	0.682													T	152613030	C	T	152613030	3	4	123	1	0	0	0	0	1	0	0	0	17807	623	22	3	897	3	ZNF275	23	152613030	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	44701416	152613030	2657530	92	8339											
SLC10A3	8273	broad.mit.edu	37	X	153716308	153716308	+	Silent	SNP	C	C	A			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:153716308C>A	uc022cig.1	-	0	972	c.972G>T	c.(970-972)ctG>ctT	p.L324L	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Silent_p.L295L|SLC10A3_uc004flq.3_Silent_p.L324L|SLC10A3_uc004flp.3_Silent_p.L324L	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	324					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGGTCCCCAGGATCTTGG	0.607													A	153716308	C	A	153716308	2	1	123	1	0	0	0	0	0	0	0	1	14375	581	21	5		5	SLC10A3	23	153716308	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	1103278	153716308	1554252	93	8340											
FAM131C	348487	broad.mit.edu	37	1	16390042	16390042	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:16390042C>T	uc001axz.4	-	1	302	c.112G>A	c.(112-114)Gtg>Atg	p.V38M		NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.	38										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGAGCCACGGTGGGAGTG	0.632													T	16390042	C	T	16390042	3	4	124	1	0	0	0	0	1	0	0	0	5441	536	19	1	754	1	FAM131C	1	16390042	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		16390042	232860579	1	8341											
RCAN3	11123	broad.mit.edu	37	1	24857822	24857822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:24857822C>T	uc021ojc.1	+	2	482	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RCAN3_uc021ojd.1_5'UTR|RCAN3_uc021oje.1_Nonsense_Mutation_p.R104*|RCAN3_uc001bjj.3_Nonsense_Mutation_p.R104*|RCAN3_uc009vre.3_Intron|RCAN3_uc021ojf.1_5'UTR|RCAN3_uc021ojg.1_Nonsense_Mutation_p.R104*|RCAN3_uc009vrg.3_Intron|RCAN3_uc009vrd.3_Nonsense_Mutation_p.R104*|RCAN3_uc009vrf.3_Nonsense_Mutation_p.R104*	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	104					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGCAAGAGCGCGAATAGAACT	0.413													T	24857822	C	T	24857822	4	4	124	1	0	0	0	0	0	1	0	0	13170	760	27	1	316	1	RCAN3	1	24857822	Nonsense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	8467780	24857822	224392799	2	8342											
GRIK3	2899	broad.mit.edu	37	1	37285426	37285426	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:37285426T>C	uc001caz.2	-	11	1919	c.1784A>G	c.(1783-1785)cAc>cGc	p.H595R	GRIK3_uc001cba.1_Missense_Mutation_p.H595R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	595					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTGCAGGGGTGAGCATCGTA	0.562													C	37285426	T	C	37285426	3	2	124	1	0	0	0	0	1	0	0	0	6775	1696	59	4	995	4	GRIK3	1	37285426	Missense_Mutation	SNP	T	TCGA-12-5299-01A-02D-1486-08	12427604	37285426	211965195	3	8343											
SLC44A5	204962	broad.mit.edu	37	1	75679448	75679448	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:75679448C>G	uc010oqz.1	-	20	2087	c.2021G>C	c.(2020-2022)aGa>aCa	p.R674T	SLC44A5_uc001dgt.2_Missense_Mutation_p.R635T|SLC44A5_uc001dgs.2_Missense_Mutation_p.R593T|SLC44A5_uc001dgr.2_Missense_Mutation_p.R593T|SLC44A5_uc001dgu.3_Missense_Mutation_p.R635T|SLC44A5_uc010ora.2_Missense_Mutation_p.R629T|SLC44A5_uc010orb.2_Missense_Mutation_p.R505T	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	635						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CACTGGCAGTCTTTGTGTGAA	0.378													G	75679448	C	G	75679448	3	3	124	1	0	0	0	0	1	0	0	0	14639	913	32	5	378	5	SLC44A5	1	75679448	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	38394022	75679448	173571173	4	8344											
HRNR	388697	broad.mit.edu	37	1	152187697	152187697	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:152187697G>A	uc001ezt.1	-	2	6484	c.6408C>T	c.(6406-6408)caC>caT	p.H2136H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2136					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTAGAGCCGTGTTGTCCGT	0.557													A	152187697	G	A	152187697	2	1	124	1	0	0	0	0	0	0	0	1	7359	1136	40	1		1	HRNR	1	152187697	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	76508249	152187697	97062924	5	8345											
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:204170871C>T	uc001has.1	-	2	372	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_uc001hat.1_Silent_p.R62R	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(2)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567													T	204170871	C	T	204170871	2	4	124	1	0	0	0	0	0	0	0	1	6570	726	26	3		3	GOLT1A	1	204170871	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	51983174	204170871	45079750	6	8346											
NID1	4811	broad.mit.edu	37	1	236189279	236189279	+	Missense_Mutation	SNP	G	G	A	rs147220938		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:236189279G>A	uc001hxo.3	-	7	2003	c.1901C>T	c.(1900-1902)tCg>tTg	p.S634L	NID1_uc009xgd.3_Missense_Mutation_p.S634L	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	634	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			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)	GCTGTCCACCGAGAGCTGCTG	0.592													A	236189279	G	A	236189279	3	1	124	1	0	0	0	0	1	0	0	0	10414	1059	37	2	1894	2	NID1	1	236189279	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	32018408	236189279	13061342	7	8347											
ZNF513	130557	broad.mit.edu	37	2	27600813	27600813	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:27600813C>T	uc002rkk.3	-	3	1443	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	ZNF513_uc002rkj.3_Missense_Mutation_p.V347I	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	409					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R408H(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTATGGACGCGCTGGTGC	0.587													T	27600813	C	T	27600813	3	4	124	1	0	0	0	0	1	0	0	0	17955	536	19	1	404	1	ZNF513	2	27600813	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		27600813	215598560	8	8348											
IL1R1	3554	broad.mit.edu	37	2	102791960	102791960	+	Silent	SNP	C	C	T	rs113665542	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:102791960C>T	uc002tbq.3	+	10	1476	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	IL1R1_uc010fix.3_Intron|IL1R1_uc002tbr.3_Silent_p.D386D	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	386	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AGACCTATGACGCATATATAC	0.363													T	102791960	C	T	102791960	2	4	124	1	0	0	0	0	0	0	0	1	7658	535	19	1		1	IL1R1	2	102791960	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	75191147	102791960	140407413	9	8349											
ANKAR	150709	broad.mit.edu	37	2	190603404	190603404	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:190603404G>A	uc002uqw.2	+	18	3784	c.3696G>A	c.(3694-3696)ttG>ttA	p.L1232L	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Silent_p.L328L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1232						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTATTGTCTTGACAGGTAAGA	0.294													A	190603404	G	A	190603404	2	1	124	1	0	0	0	0	0	0	0	1	623	1281	45	3		3	ANKAR	2	190603404	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	87811444	190603404	52595969	10	8350											
ITPR1	3708	broad.mit.edu	37	3	4669476	4669476	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr3:4669476C>T	uc003bqc.3	+	4	543	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	ITPR1_uc010hbz.3_Missense_Mutation_p.R65C|ITPR1_uc021wsi.1_Missense_Mutation_p.R65C|ITPR1_uc021wsj.1_Missense_Mutation_p.R65C|ITPR1_uc011asu.2_Missense_Mutation_p.R65C	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	65					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCCCATGAACCGCTACTCTGC	0.468													T	4669476	C	T	4669476	3	4	124	1	0	0	0	0	1	0	0	0	7920	652	23	2	203	2	ITPR1	3	4669476	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		4669476	193352954	11	8351											
CHST2	9435	broad.mit.edu	37	3	142840212	142840212	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr3:142840212A>G	uc003evm.3	+	1	1493	c.554A>G	c.(553-555)aAc>aGc	p.N185S	CHST2_uc021xex.1_Missense_Mutation_p.N185S	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	185					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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGCTATTCAACCAGAATCCC	0.622													G	142840212	A	G	142840212	3	3	124	1	0	0	0	0	1	0	0	0	3404	43	2	4	556	4	CHST2	3	142840212	Missense_Mutation	SNP	A	TCGA-12-5299-01A-02D-1486-08	138170736	142840212	55182218	12	8352											
SH3RF1	57630	broad.mit.edu	37	4	170190261	170190261	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr4:170190261G>C	uc003isa.1	-	1	438	c.103C>G	c.(103-105)Cga>Gga	p.R35G		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	35						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AGCAAACATCGCTTGCAAAAC	0.517													C	170190261	G	C	170190261	3	2	124	1	0	0	0	0	1	0	0	0	14258	1095	38	5	2607	5	SH3RF1	4	170190261	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		170190261	20964015	13	8353											
PCDHAC2	56145	broad.mit.edu	37	5	140181796	140181796	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:140181796C>T	uc003lhf.2	+	0	1014	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.L338L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	353	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACTCGAAATTGTGG	0.398													T	140181796	C	T	140181796	2	4	124	1	0	0	0	0	0	0	0	1	11533	871	31	2		2	PCDHAC2	5	140181796	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08		140181796	40733464	14	8354											
PCDHGC5	56103	broad.mit.edu	37	5	140741377	140741377	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:140741377G>A	uc003ljs.2	+	0	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.A559T|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	561	Cadherin 5.				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)			CAATGACAATGCGCCACGGGT	0.692													A	140741377	G	A	140741377	3	1	124	1	0	0	0	0	1	0	0	0	11571	1319	46	3		3	PCDHGC5	5	140741377	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	559581	140741377	40173883	15	8355											
EIF4E1B	253314	broad.mit.edu	37	5	176070180	176070180	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:176070180C>G	uc010jkf.1	+	3	697	c.113C>G	c.(112-114)tCt>tGt	p.S38C		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.	38					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCAAACTCTCCCAGGACT	0.612													G	176070180	C	G	176070180	3	3	124	1	0	0	0	0	1	0	0	0	5029	913	32	5	119	5	EIF4E1B	5	176070180	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	35328803	176070180	4845080	16	8356											
SLC17A2	10246	broad.mit.edu	37	6	25917030	25917030	+	Silent	SNP	T	T	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr6:25917030T>A	uc011dkb.2	-	6	896	c.813A>T	c.(811-813)acA>acT	p.T271T	SLC17A2_uc011dkc.2_Silent_p.T271T|SLC17A2_uc003nfl.3_Silent_p.T271T			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	271					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTGGTAGGCATGTGACCATCG	0.478													A	25917030	T	A	25917030	2	1	124	1	0	0	0	0	0	0	0	1	14417	1451	51	5		5	SLC17A2	6	25917030	Silent	SNP	T	TCGA-12-5299-01A-02D-1486-08		25917030	145198037	17	8357											
DNAH8	1769	broad.mit.edu	37	6	38834386	38834386	+	Missense_Mutation	SNP	G	G	A	rs139579198		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr6:38834386G>A	uc021yzh.1	+	45	6627	c.6518G>A	c.(6517-6519)cGc>cAc	p.R2173H	DNAH8_uc003ooe.2_Missense_Mutation_p.R1956H	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.R1956H(2)		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						TATGCTGGGCGCCAGGAACTA	0.323													A	38834386	G	A	38834386	3	1	124	1	0	0	0	0	1	0	0	0	4607	1087	38	1	6033	1	DNAH8	6	38834386	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	12917356	38834386	132280681	18	8358											
SDK1	221935	broad.mit.edu	37	7	4116751	4116751	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:4116751C>T	uc003smx.3	+	20	3271	c.3132C>T	c.(3130-3132)gaC>gaT	p.D1044D	SDK1_uc010kso.3_Silent_p.D320D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1044	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCATCGACGTGGCCGCTG	0.587													T	4116751	C	T	4116751	2	4	124	1	0	0	0	0	0	0	0	1	13968	535	19	1		1	SDK1	7	4116751	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08		4116751	155021912	19	8359											
RHBDD2	57414	broad.mit.edu	37	7	75517607	75517607	+	Silent	SNP	G	G	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:75517607G>T	uc003udw.1	+	3	1119	c.1035G>T	c.(1033-1035)ggG>ggT	p.G345G	RHBDD2_uc003udv.1_Silent_p.G204G	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	345						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGTATTCTGGGGCCTTGGGCA	0.622													T	75517607	G	T	75517607	2	4	124	1	0	0	0	0	0	0	0	1	13317	1219	43	5		5	RHBDD2	7	75517607	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	71400856	75517607	83621056	20	8360											
KCNH2	3757	broad.mit.edu	37	7	150649546	150649546	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:150649546G>A	uc003wic.3	-	5	1925	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	KCNH2_uc003wib.3_Silent_p.F168F|KCNH2_uc011kux.2_Silent_p.F412F|KCNH2_uc003wid.3_Silent_p.F168F|KCNH2_uc003wie.3_Silent_p.F508F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	508			Missing (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGAGCAGGTCGAAGGGGATGG	0.627													A	150649546	G	A	150649546	2	1	124	1	0	0	0	0	0	0	0	1	8032	1049	37	2		2	KCNH2	7	150649546	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	75131939	150649546	8489117	21	8361											
EPPK1	83481	broad.mit.edu	37	8	144941723	144941723	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr8:144941723G>A	uc003zaa.1	-	0	5712	c.5699C>T	c.(5698-5700)gCg>gTg	p.A1900V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1900						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGACCCCCGCAATGCAGCC	0.632													A	144941723	G	A	144941723	3	1	124	1	0	0	0	0	1	0	0	0	5190	1087	38	1	1567	1	EPPK1	8	144941723	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		144941723	1422299	22	8362											
PTPRD	5789	broad.mit.edu	37	9	8492897	8492897	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:8492897C>T	uc003zkk.3	-	26	3175	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	811	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R811C(1)		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)		GGGCTTGCTGCGAGCACCATC	0.463										TSP Lung(15;0.13)			T	8492897	C	T	8492897	3	4	124	1	0	0	0	0	1	0	0	0	12799	768	27	1	3454	1	PTPRD	9	8492897	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		8492897	132720534	23	8363											
KCNT1	57582	broad.mit.edu	37	9	138676650	138676650	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:138676650G>A	uc011mdq.2	+	26	3145	c.3071G>A	c.(3070-3072)cGc>cAc	p.R1024H	KCNT1_uc011mdr.2_Missense_Mutation_p.R851H|KCNT1_uc010nbf.3_Missense_Mutation_p.R979H|KCNT1_uc004cgo.1_Missense_Mutation_p.R773H	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1024						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGTACGGCCGCCTCTTCCAG	0.637													A	138676650	G	A	138676650	3	1	124	1	0	0	0	0	1	0	0	0	8091	1087	38	1	3177	1	KCNT1	9	138676650	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	130183753	138676650	2536781	24	8364											
OPN4	94233	broad.mit.edu	37	10	88418396	88418396	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr10:88418396G>A	uc010qmk.1	+	4	840	c.613G>A	c.(613-615)Gtt>Att	p.V205I	OPN4_uc001kdp.3_Missense_Mutation_p.V205I|OPN4_uc001kdq.3_Missense_Mutation_p.V194I|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	194					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCTGCTGGGCGTTTGGCTCTA	0.647													A	88418396	G	A	88418396	3	1	124	1	0	0	0	0	1	0	0	0	10882	1145	40	1	631	1	OPN4	10	88418396	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		88418396	47116351	25	8365											
SCUBE2	57758	broad.mit.edu	37	11	9074727	9074727	+	Missense_Mutation	SNP	G	G	A	rs77907325		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:9074727G>A	uc001mhi.2	-	11	1441	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	SCUBE2_uc021qdk.1_5'Flank|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	456						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGGGACACACGGGGTGACACA	0.537													A	9074727	G	A	9074727	3	1	124	1	0	0	0	0	1	0	0	0	13945	1116	39	2	1768	2	SCUBE2	11	9074727	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		9074727	125931789	26	8366											
TMPRSS4	56649	broad.mit.edu	37	11	117985881	117985881	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:117985881G>A	uc021qrd.1	+	10	1329	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Silent_p.A341A|TMPRSS4_uc010rxo.2_Silent_p.A344A|TMPRSS4_uc010rxs.2_Silent_p.A306A|TMPRSS4_uc010rxq.2_Silent_p.A199A|TMPRSS4_uc010rxr.2_Silent_p.A321A|TMPRSS4_uc010rxt.2_Silent_p.A321A	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	346	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGCTGCAGGCGTCAGTCCAGG	0.552													A	117985881	G	A	117985881	2	1	124	1	0	0	0	0	0	0	0	1	16246	1132	40	1		1	TMPRSS4	11	117985881	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	108911154	117985881	17020635	27	8367											
C1QTNF5	83552	broad.mit.edu	37	11	119216274	119216274	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:119216274G>C	uc010rzg.1	-	4	657	c.497C>G	c.(496-498)cCc>cGc	p.P166R	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	166	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GTGGGTGTTGGGGGGGTAAGG	0.567													C	119216274	G	C	119216274	3	2	124	1	0	0	0	0	1	0	0	0	1966	1232	43	5		5	C1QTNF5	11	119216274	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	1230393	119216274	15790242	28	8368											
POU2F3	25833	broad.mit.edu	37	11	120168973	120168973	+	Splice_Site	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:120168973G>C	uc021qrk.1	+	4	173	c.139_splice	c.e4-1	p.I47_splice	POU2F3_uc001pxc.3_Splice_Site_p.I45_splice|POU2F3_uc010rzk.2_Splice_Site|POU2F3_uc010rzl.2_Splice_Site	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	45					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TCCACTTGCAGATTAAAACCG	0.547													C	120168973	G	C	120168973	5	2	124	1	0	0	0	0	0	0	1	0	12273	956	33	5	146	5	POU2F3	11	120168973	Splice_Site	SNP	G	TCGA-12-5299-01A-02D-1486-08	952699	120168973	14837543	29	8369											
ZNF202	7753	broad.mit.edu	37	11	123600382	123600382	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:123600382C>A	uc001pzd.1	-	4	954	c.554G>T	c.(553-555)gGg>gTg	p.G185V	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.G185V|ZNF202_uc001pzf.1_Missense_Mutation_p.G185V	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	185					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGCCGGTGCCCCCAGATCTGG	0.607													A	123600382	C	A	123600382	3	1	124	1	0	0	0	0	1	0	0	0	17760	623	22	5	1412	5	ZNF202	11	123600382	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	3431409	123600382	11406134	30	8370											
ACAD8	27034	broad.mit.edu	37	11	134128470	134128470	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:134128470C>T	uc001qhk.3	+	3	503	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	ACAD8_uc009zdc.3_Missense_Mutation_p.P50S|ACAD8_uc010sco.1_Missense_Mutation_p.P50S|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.P71S|ACAD8_uc001qhl.3_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.P110S|ACAD8_uc009zde.1_Missense_Mutation_p.P21S	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	148					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.P148P(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		ATTTTGCCCACCGCTCTGTAC	0.468													T	134128470	C	T	134128470	3	4	124	1	0	0	0	0	1	0	0	0	110	507	18	3	456	3	ACAD8	11	134128470	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	10528088	134128470	878046	31	8371											
TMEM117	84216	broad.mit.edu	37	12	44782427	44782427	+	Missense_Mutation	SNP	C	C	T	rs150984405		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:44782427C>T	uc001rod.3	+	7	1583	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	TMEM117_uc001roe.3_Missense_Mutation_p.T402M|TMEM117_uc009zkc.3_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	506						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGACCCAACGACTTCTAAA	0.398													T	44782427	C	T	44782427	3	4	124	1	0	0	0	0	1	0	0	0	16028	536	19	1	1543	1	TMEM117	12	44782427	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		44782427	89069468	32	8372											
NR2C1	7181	broad.mit.edu	37	12	95425195	95425195	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:95425195G>A	uc001tdm.4	-	10	1579	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	NR2C1_uc010suu.1_Intron|NR2C1_uc001tdn.4_Silent_p.C441C|NR2C1_uc001tdo.4_Silent_p.C441C	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	441					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCACTTGCCAGCACTGGGCAA	0.368													A	95425195	G	A	95425195	2	1	124	1	0	0	0	0	0	0	0	1	10622	963	34	3		3	NR2C1	12	95425195	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	50642768	95425195	38426700	33	8373											
VPS29	51699	broad.mit.edu	37	12	110929907	110929907	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:110929907A>G	uc001tqy.3	-	3	512	c.452T>C	c.(451-453)gTg>gCg	p.V151A	VPS29_uc001tqw.3_Non-coding_Transcript|VPS29_uc001tqx.3_Missense_Mutation_p.V155A|VPS29_uc001tqz.3_Non-coding_Transcript	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae) (VPS29), transcript variant 1, mRNA.	151					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATCCATCAACACAAATGATGG	0.328													G	110929907	A	G	110929907	3	3	124	1	0	0	0	0	1	0	0	0	17197	159	6	4	100	4	VPS29	12	110929907	Missense_Mutation	SNP	A	TCGA-12-5299-01A-02D-1486-08	15504712	110929907	22921988	34	8374											
KSR2	283455	broad.mit.edu	37	12	118198984	118198984	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:118198984G>A	uc001two.2	-	3	786	c.731C>T	c.(730-732)cCg>cTg	p.P244L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	273	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTGCCCGGCGGGGTCACGGT	0.701													A	118198984	G	A	118198984	3	1	124	1	0	0	0	0	1	0	0	0	8582	1116	39	2	2102	2	KSR2	12	118198984	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	7269077	118198984	15652911	35	8375											
ARHGAP5	394	broad.mit.edu	37	14	32561686	32561686	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr14:32561686A>T	uc001wrl.3	+	1	2050	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	ARHGAP5_uc001wrm.3_Missense_Mutation_p.D604V|ARHGAP5_uc001wrn.3_Missense_Mutation_p.D604V|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	604					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTAGGGAAGGATGGCCTTGCC	0.373													T	32561686	A	T	32561686	3	4	124	1	0	0	0	0	1	0	0	0	886	333	12	5	1813	5	ARHGAP5	14	32561686	Missense_Mutation	SNP	A	TCGA-12-5299-01A-02D-1486-08		32561686	74787854	36	8376											
ITGAX	3687	broad.mit.edu	37	16	31384692	31384692	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr16:31384692G>A	uc002ebt.3	+	19	2556	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	ITGAX_uc002ebu.1_Missense_Mutation_p.R830H	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	830					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGTCCTACCGCTACGTGGCA	0.622													A	31384692	G	A	31384692	3	1	124	1	0	0	0	0	1	0	0	0	7889	1087	38	1	2567	1	ITGAX	16	31384692	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		31384692	58970061	37	8377											
KRT23	25984	broad.mit.edu	37	17	39092707	39092707	+	Missense_Mutation	SNP	C	C	T	rs148371500		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:39092707C>T	uc002hvm.1	-	1	738	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.R50Q|KRT23_uc002hvn.1_Missense_Mutation_p.R50Q	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	50	Head.					intermediate filament	structural molecule activity	p.T49T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGGGCAGCTCCGCGTGGTGAA	0.692													T	39092707	C	T	39092707	3	4	124	1	0	0	0	0	1	0	0	0	8460	652	23	2	1151	2	KRT23	17	39092707	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		39092707	42102503	38	8378											
KRTAP4-9	100132386	broad.mit.edu	37	17	39262036	39262036	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:39262036C>T	uc010wfp.2	+	0	396	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	132	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gctgtgtgtccagctgctgca	0.662													T	39262036	C	T	39262036	2	4	124	1	0	0	0	0	0	0	0	1	8557	581	21	3		3	KRTAP4-9	17	39262036	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	169329	39262036	41933174	39	8379											
DGKE	8526	broad.mit.edu	37	17	54940030	54940030	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:54940030G>T	uc002iur.3	+	11	1762	c.1582G>T	c.(1582-1584)Ggg>Tgg	p.G528W	DGKE_uc002ius.1_3'UTR	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	528					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGGGCCCAAGGGCCCTGCAC	0.448													T	54940030	G	T	54940030	3	4	124	1	0	0	0	0	1	0	0	0	4468	1000	35	5	1624	5	DGKE	17	54940030	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	15677994	54940030	26255180	40	8380											
CASKIN2	57513	broad.mit.edu	37	17	73498864	73498864	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:73498864G>C	uc002joc.3	-	17	2841	c.2291C>G	c.(2290-2292)tCt>tGt	p.S764C	CASKIN2_uc010wsc.2_Missense_Mutation_p.S682C	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	764	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCGGGCTAGAGGGTGAGCC	0.667													C	73498864	G	C	73498864	3	2	124	1	0	0	0	0	1	0	0	0	2667	942	33	5	1329	5	CASKIN2	17	73498864	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	18558834	73498864	7696346	41	8381											
EVPL	2125	broad.mit.edu	37	17	74017966	74017966	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:74017966G>A	uc010wss.1	-	6	1017	c.789C>T	c.(787-789)ggC>ggT	p.G263G	EVPL_uc002jqi.2_Silent_p.G263G|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	263	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCGCCGCACGCCCGCAGGGT	0.756													A	74017966	G	A	74017966	2	1	124	1	0	0	0	0	0	0	0	1	5292	1074	38	1		1	EVPL	17	74017966	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	519102	74017966	7177244	42	8382											
SLC25A10	1468	broad.mit.edu	37	17	79682531	79682531	+	Silent	SNP	C	C	T	rs146181618	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:79682531C>T	uc010wut.2	+	6	834	c.702C>T	c.(700-702)ttC>ttT	p.F234F	SLC25A10_uc002kbi.3_Silent_p.F79F|SLC25A10_uc010dif.3_Silent_p.F79F|SLC25A10_uc010wuu.2_Silent_p.F33F	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	79					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGACTCGGTTCGCCATCTACG	0.687													T	79682531	C	T	79682531	2	4	124	1	0	0	0	0	0	0	0	1	14472	883	31	2		2	SLC25A10	17	79682531	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	5664565	79682531	1512679	43	8383											
ADNP2	22850	broad.mit.edu	37	18	77896288	77896288	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr18:77896288C>A	uc002lnw.3	+	3	3447	c.2992C>A	c.(2992-2994)Ccc>Acc	p.P998T		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	998					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			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)		GGAGCAGCCTCCCATCCTAAA	0.517													A	77896288	C	A	77896288	3	1	124	1	0	0	0	0	1	0	0	0	324	855	30	5	3002	5	ADNP2	18	77896288	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		77896288	180960	44	8384											
ZNF358	140467	broad.mit.edu	37	19	7585663	7585663	+	Missense_Mutation	SNP	T	T	C	rs28655671		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:7585663T>C	uc002mgn.2	+	1	1705	c.1535T>C	c.(1534-1536)cTt>cCt	p.L512P	ZNF358_uc021unu.1_Missense_Mutation_p.L512P|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	512					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AGCCCAGACCTTGATCCTGTG	0.647													C	7585663	T	C	7585663	3	2	124	1	0	0	0	0	1	0	0	0	17864	1609	56	4	1537	4	ZNF358	19	7585663	Missense_Mutation	SNP	T	TCGA-12-5299-01A-02D-1486-08		7585663	51543320	45	8385											
MEGF8	1954	broad.mit.edu	37	19	42855690	42855690	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:42855690G>A	uc002otl.4	+	15	3399	c.2764G>A	c.(2764-2766)Ggc>Agc	p.G922S	MEGF8_uc002otm.4_Missense_Mutation_p.G530S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	989	PSI 3.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCACACGGGGGCTGTCGAGG	0.662													A	42855690	G	A	42855690	3	1	124	1	0	0	0	0	1	0	0	0	9463	1232	43	3	2826	3	MEGF8	19	42855690	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	35270027	42855690	16273293	46	8386											
DYNLRB1	83658	broad.mit.edu	37	20	33114101	33114101	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr20:33114101T>C	uc002xal.3	+	1	92	c.32T>C	c.(31-33)cTg>cCg	p.L11P	DYNLRB1_uc010zuk.2_Missense_Mutation_p.L11P|DYNLRB1_uc002xao.3_Non-coding_Transcript	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.	11					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CTGAAGCGACTGCAGAGCCAG	0.587													C	33114101	T	C	33114101	3	2	124	1	0	0	0	0	1	0	0	0	4850	1580	55	4	38	4	DYNLRB1	20	33114101	Missense_Mutation	SNP	T	TCGA-12-5299-01A-02D-1486-08		33114101	29911419	47	8387											
AIRE	326	broad.mit.edu	37	21	45706905	45706905	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr21:45706905G>A	uc002zei.2	+	2	479	c.352G>A	c.(352-354)Gtc>Atc	p.V118I		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	118					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCCCCCGGCCGTCCCCAAGGC	0.672									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				A	45706905	G	A	45706905	3	1	124	1	0	0	0	0	1	0	0	0	437	1145	40	1	362	1	AIRE	21	45706905	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		45706905	2422990	48	8388											
ARSD	414	broad.mit.edu	37	X	2836003	2836003	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:2836003G>A	uc004cqy.3	-	4	805	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	235						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		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)				GGCAGCCCACGCCGGCCATGC	0.592													A	2836003	G	A	2836003	2	1	124	1	0	0	0	0	0	0	0	1	989	1074	38	1		1	ARSD	23	2836003	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08		2836003	152434557	49	8389											
CXorf58	254158	broad.mit.edu	37	X	23953460	23953460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:23953460C>T	uc004daz.1	+	6	1047	c.703C>T	c.(703-705)Cga>Tga	p.R235*	CXorf58_uc011mju.1_Nonsense_Mutation_p.R235*	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	235										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAACCGTCTACGAAATGAAAT	0.378													T	23953460	C	T	23953460	4	4	124	1	0	0	0	0	0	1	0	0	4114	528	19	1	725	1	CXorf58	23	23953460	Nonsense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	21117457	23953460	131317100	50	8390											
ZNF182	7569	broad.mit.edu	37	X	47842386	47842386	+	Silent	SNP	G	G	A	rs141215624	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:47842386G>A	uc004dir.3	-	5	598	c.252C>T	c.(250-252)tgC>tgT	p.C84C	ZNF182_uc004dis.3_Silent_p.C65C|ZNF182_uc004dit.3_Silent_p.C84C	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CTTCTGCCGGGCATTCTTCTA	0.478													A	47842386	G	A	47842386	2	1	124	1	0	0	0	0	0	0	0	1	17747	1195	42	3		3	ZNF182	23	47842386	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	23888926	47842386	107428174	51	8391											
CAMTA1	23261	broad.mit.edu	37	1	7811328	7811329	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:7811328_7811329insA	uc001aoi.3	+	19	4966_4967	c.4759_4760insA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_uc001aok.4_Frame_Shift_Ins_p.Q630fs|CAMTA1_uc001aoj.3_Frame_Shift_Ins_p.Q550fs|CAMTA1_uc009vmf.3_Frame_Shift_Ins_p.Q177fs	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1587	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTACTATGAACAAAAAAAATTC	0.47			T	WWTR1	epitheliod hemangioendothelioma								A	7811329	-	A	7811328	7	5	125	1	0	1	1	0	0	0	0	0	2613	479	17	0	4837	0	CAMTA1	1	7811328	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08		7811328	241439293	1	8392											
SPRR1B	6699	broad.mit.edu	37	1	153004854	153004854	+	Silent	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:153004854C>G	uc001fba.3	+	1	97	c.33C>G	c.(31-33)acC>acG	p.T11T	SPRR1B_uc021ozp.1_Silent_p.T11T	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	11	2 X 12 AA approximate repeats.		T -> I (in dbSNP:rs3795382).		keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCTTGCACCCCACCCCCTC	0.557													G	153004854	C	G	153004854	2	3	125	1	0	0	0	0	0	0	0	1	15095	610	22	5		5	SPRR1B	1	153004854	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	145193526	153004854	96245767	2	8393											
NUP210L	91181	broad.mit.edu	37	1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:154062058G>A	uc001fdw.3	-	15	2272	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423													A	154062058	G	A	154062058	4	1	125	1	0	0	0	0	0	1	0	0	10761	1124	39	2	3566	2	NUP210L	1	154062058	Nonsense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	1057204	154062058	95188563	3	8394											
ATP1A4	480	broad.mit.edu	37	1	160136448	160136448	+	Missense_Mutation	SNP	G	G	A	rs139315814		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:160136448G>A	uc001fve.4	+	7	1657	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	393					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			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)			ACCCAGAACCGCATGACCGTC	0.577													A	160136448	G	A	160136448	3	1	125	1	0	0	0	0	1	0	0	0	1131	1087	38	1	1208	1	ATP1A4	1	160136448	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	6074390	160136448	89114173	4	8395											
SELP	6403	broad.mit.edu	37	1	169562857	169562857	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:169562857C>T	uc001ggi.4	-	13	2458	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	SELP_uc001ggh.3_Intron|SELP_uc009wvr.3_Missense_Mutation_p.R797H	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	798					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.R798C(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)	TTGTCTGAAACGCTTTCTTAG	0.423													T	169562857	C	T	169562857	3	4	125	1	0	0	0	0	1	0	0	0	14019	536	19	1	111	1	SELP	1	169562857	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	9426409	169562857	79687764	5	8396											
FMO3	2328	broad.mit.edu	37	1	171080061	171080061	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:171080061C>T	uc001ghi.3	+	5	861	c.750C>T	c.(748-750)gcC>gcT	p.A250A	FMO3_uc001ghh.3_Silent_p.A250A|FMO3_uc010pmb.2_Silent_p.A230A|FMO3_uc010pmc.2_Silent_p.A187A	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	250					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TACCGACAGCCATCTCTGACT	0.468													T	171080061	C	T	171080061	2	4	125	1	0	0	0	0	0	0	0	1	5956	581	21	3		3	FMO3	1	171080061	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	1517204	171080061	78170560	6	8397											
TNN	63923	broad.mit.edu	37	1	175067712	175067712	+	Silent	SNP	C	C	T	rs150075962	by1000genomes	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:175067712C>T	uc001gkl.1	+	8	2213	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A	TNN_uc010pmx.1_Silent_p.A611A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	700	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A700A(4)		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)		GCAAGAAGGCCGACACCAAGG	0.572													T	175067712	C	T	175067712	2	4	125	1	0	0	0	0	0	0	0	1	16320	639	23	2		2	TNN	1	175067712	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3987651	175067712	74182909	7	8398											
OR2T11	127077	broad.mit.edu	37	1	248790297	248790297	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:248790297A>G	uc001ier.1	-	0	133	c.133T>C	c.(133-135)Ttg>Ctg	p.L45L		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ACCTGAATCAAGAATATCATG	0.502													G	248790297	A	G	248790297	2	3	125	1	0	0	0	0	0	0	0	1	11018	69	3	4		4	OR2T11	1	248790297	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08	73722585	248790297	460324	8	8399											
THADA	63892	broad.mit.edu	37	2	43768396	43768396	+	Missense_Mutation	SNP	T	T	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:43768396T>G	uc002rsw.4	-	20	3518	c.3166A>C	c.(3166-3168)Agt>Cgt	p.S1056R	THADA_uc010far.3_Missense_Mutation_p.S325R|THADA_uc002rsx.4_Missense_Mutation_p.S1056R|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.S765R|THADA_uc010fat.1_Missense_Mutation_p.S203R|THADA_uc002rta.2_Missense_Mutation_p.S766R	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1056							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCCTTCATACTTCTCCAACAA	0.418													G	43768396	T	G	43768396	3	3	125	1	0	0	0	0	1	0	0	0	15837	1609	56	5	2767	5	THADA	2	43768396	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08		43768396	199430977	9	8400											
SLC9A4	389015	broad.mit.edu	37	2	103095704	103095704	+	Silent	SNP	C	C	T	rs115868705	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:103095704C>T	uc002tbz.4	+	1	1120	c.663C>T	c.(661-663)aaC>aaT	p.N221N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	221					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCGCGTGAACGAGCAGCTCT	0.612													T	103095704	C	T	103095704	2	4	125	1	0	0	0	0	0	0	0	1	14716	535	19	1		1	SLC9A4	2	103095704	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	59327308	103095704	140103669	10	8401											
VIL1	7429	broad.mit.edu	37	2	219295468	219295468	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:219295468G>C	uc002vib.3	+	8	991	c.969G>C	c.(967-969)caG>caC	p.Q323H	VIL1_uc010zke.2_Missense_Mutation_p.Q12H|VIL1_uc002via.3_Missense_Mutation_p.Q323H|VIL1_uc002vic.1_Missense_Mutation_p.Q323H	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	323	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCCAAGCAGTACCCACCAA	0.557													C	219295468	G	C	219295468	3	2	125	1	0	0	0	0	1	0	0	0	17161	1020	36	5	1003	5	VIL1	2	219295468	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	116199764	219295468	23903905	11	8402											
FGD5	152273	broad.mit.edu	37	3	14861427	14861427	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:14861427G>A	uc003bzc.3	+	0	959	c.849G>A	c.(847-849)acG>acA	p.T283T	FGD5_uc011avk.2_Silent_p.T283T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	283	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGAGGCCACGGGTGTCACAG	0.607													A	14861427	G	A	14861427	2	1	125	1	0	0	0	0	0	0	0	1	5836	1103	39	2		2	FGD5	3	14861427	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08		14861427	183161003	12	8403											
TRANK1	9881	broad.mit.edu	37	3	36874402	36874402	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:36874402C>T	uc003cgj.3	-	20	6788	c.6540G>A	c.(6538-6540)tcG>tcA	p.S2180S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2180					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTCATTTTCGACTGAACTA	0.378													T	36874402	C	T	36874402	2	4	125	1	0	0	0	0	0	0	0	1	16451	871	31	2		2	TRANK1	3	36874402	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	22012975	36874402	161148028	13	8404											
ZNF167	55888	broad.mit.edu	37	3	44611913	44611913	+	Missense_Mutation	SNP	A	A	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:44611913A>C	uc003cnj.3	+	5	1727	c.1311A>C	c.(1309-1311)aaA>aaC	p.K437N	ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Missense_Mutation_p.K437N|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Missense_Mutation_p.K286N	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	437					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		CAGGGGAAAAACCCTATGAAT	0.473													C	44611913	A	C	44611913	3	2	125	1	0	0	0	0	1	0	0	0	17738	40	2	5	1329	5	ZNF167	3	44611913	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	7737511	44611913	153410517	14	8405											
AMT	275	broad.mit.edu	37	3	49455400	49455400	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:49455400C>T	uc003cww.3	-	7	1112	c.884G>A	c.(883-885)cGc>cAc	p.R295H	AMT_uc011bcn.2_Intron|AMT_uc003cwx.3_Missense_Mutation_p.R295H|AMT_uc011bco.2_Missense_Mutation_p.R251H|AMT_uc003cwy.3_Missense_Mutation_p.R247H|AMT_uc011bcq.2_Missense_Mutation_p.R239H|AMT_uc011bcp.2_Missense_Mutation_p.R198H	NM_000481	NP_000472	P48728	GCST_HUMAN	Homo sapiens aminomethyltransferase (AMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	295					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGCTCGGCGGCGCTTCCCTGG	0.582													T	49455400	C	T	49455400	3	4	125	1	0	0	0	0	1	0	0	0	589	768	27	1	363	1	AMT	3	49455400	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	4843487	49455400	148567030	15	8406											
CACNA1D	776	broad.mit.edu	37	3	53531323	53531323	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:53531323C>T	uc003dgv.4	+	1	375	c.212C>T	c.(211-213)aCc>aTc	p.T71I	CACNA1D_uc003dgu.4_Missense_Mutation_p.T71I|CACNA1D_uc003dgy.4_Missense_Mutation_p.T71I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	71					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACTATGAGCACCTCTGCACCC	0.542													T	53531323	C	T	53531323	3	4	125	1	0	0	0	0	1	0	0	0	2541	507	18	3	218	3	CACNA1D	3	53531323	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	4075923	53531323	144491107	16	8407											
GCET2	257144	broad.mit.edu	37	3	111846908	111846908	+	Silent	SNP	T	T	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:111846908T>C	uc021xcl.1	-	3	290	c.105_splice	c.e3-1	p.R35_splice	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Splice_Site_p.R33_splice|GCET2_uc021xcm.1_Intron	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	33						mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						GATCCCAGCATCTAAAATACC	0.408													C	111846908	T	C	111846908	2	2	125	1	0	0	0	0	0	0	0	1	6288	1449	50	4		4	GCET2	3	111846908	Silent	SNP	T	TCGA-12-5301-01A-01D-1486-08	58315585	111846908	86175522	17	8408											
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:178916876G>A	uc003fjk.3	+	1	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(102)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916876	G	A	178916876	3	1	125	1	0	0	0	0	1	0	0	0	11913	1058	37	2	265	2	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	67069968	178916876	19105554	18	8409											
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:178916936G>A	uc003fjk.3	+	1	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	108	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R108H(20)|p.G106_R108del(4)|p.R108L(3)|p.G106_R108delGNR(3)|p.R108P(2)|p.R108del(2)|p.N107S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916936	G	A	178916936	3	1	125	1	0	0	0	0	1	0	0	0	11913	1145	40	1	325	1	PIK3CA	3	178916936	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	60	178916936	19105494	19	8410											
MUC4	4585	broad.mit.edu	37	3	195484190	195484190	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:195484190G>A	uc021xjp.1	-	17	15152	c.14996C>T	c.(14995-14997)aCg>aTg	p.T4999M	MUC4_uc003fuz.3_Missense_Mutation_p.T597M|MUC4_uc003fva.3_Missense_Mutation_p.T479M|MUC4_uc003fvb.3_Missense_Mutation_p.T515M|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.T515M|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.T508M|MUC4_uc021xjn.1_Missense_Mutation_p.T688M|MUC4_uc021xjo.1_Missense_Mutation_p.T479M|MUC4_uc021xjg.1_Missense_Mutation_p.T479M|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.T563M|MUC4_uc021xjj.1_Missense_Mutation_p.T563M|MUC4_uc021xjk.1_Missense_Mutation_p.T740M|MUC4_uc021xjl.1_Missense_Mutation_p.T479M|MUC4_uc003fvo.3_Missense_Mutation_p.T763M|MUC4_uc003fvp.3_Missense_Mutation_p.T712M	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1756					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		CCACAGCAACGTCCCATTCTC	0.572													A	195484190	G	A	195484190	3	1	125	1	0	0	0	0	1	0	0	0	9978	1145	40	1	1274	1	MUC4	3	195484190	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	16567254	195484190	2538240	20	8411											
MFSD7	84179	broad.mit.edu	37	4	680077	680077	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr4:680077C>T	uc003gay.3	-	2	366	c.309G>A	c.(307-309)gcG>gcA	p.A103A	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Silent_p.A103A|MFSD7_uc003gaz.3_Intron	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	103					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						AGTTCAGCCACGCACCCAGGA	0.652													T	680077	C	T	680077	2	4	125	1	0	0	0	0	0	0	0	1	9537	523	19	1		1	MFSD7	4	680077	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		680077	190474199	21	8412											
KDR	3791	broad.mit.edu	37	4	55961059	55961059	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr4:55961059G>A	uc003has.3	-	20	3183	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	KDR_uc003hat.1_Missense_Mutation_p.R961W	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	961	Protein kinase.				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.R961W(2)		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)	TCCAAGCGCCGTTTCAGATCC	0.488			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55961059	G	A	55961059	3	1	125	1	0	0	0	0	1	0	0	0	8139	1144	40	1	1229	1	KDR	4	55961059	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	55280982	55961059	135193217	22	8413											
FBN2	2201	broad.mit.edu	37	5	127623046	127623046	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:127623046C>T	uc003kuu.3	-	53	7273	c.6834G>A	c.(6832-6834)acG>acA	p.T2278T		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2278	EGF-like 38; calcium-binding.		T -> M (in dbSNP:rs2307109).		bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAATCGGGCACGTGCATTCAT	0.483													T	127623046	C	T	127623046	2	4	125	1	0	0	0	0	0	0	0	1	5703	523	19	1		1	FBN2	5	127623046	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		127623046	53292214	23	8414											
WNT8A	7478	broad.mit.edu	37	5	137426568	137426568	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:137426568C>T	uc011cyk.1	+	4	1152	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	WNT8A_uc011cyj.1_Missense_Mutation_p.R306C|WNT8A_uc003lcd.1_Missense_Mutation_p.R288C			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	288					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTGGGAGCGACGTAGCTGTGG	0.542													T	137426568	C	T	137426568	3	4	125	1	0	0	0	0	1	0	0	0	17393	536	19	1	884	1	WNT8A	5	137426568	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	9803522	137426568	43488692	24	8415											
DND1	373863	broad.mit.edu	37	5	140052370	140052370	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:140052370G>A	uc003lgt.3	-	2	308	c.264C>T	c.(262-264)cgC>cgT	p.R88R		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	Homo sapiens dead end homolog 1 (zebrafish) (DND1), mRNA.	88	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCATCAGGCGGAACTCGT	0.667													A	140052370	G	A	140052370	2	1	125	1	0	0	0	0	0	0	0	1	4666	1190	42	3		3	DND1	5	140052370	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	2625802	140052370	40862890	25	8416											
GABRB2	2561	broad.mit.edu	37	5	160721276	160721276	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:160721276A>G	uc003lys.1	-	10	1569	c.1351T>C	c.(1351-1353)Ttt>Ctt	p.F451L	GABRB2_uc011deh.1_Missense_Mutation_p.F252L|GABRB2_uc003lyr.1_Missense_Mutation_p.F413L|GABRB2_uc003lyt.1_Missense_Mutation_p.F413L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	451					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTCGGCCAAAACTATGCCTG	0.527													G	160721276	A	G	160721276	3	3	125	1	0	0	0	0	1	0	0	0	6167	14	1	4	191	4	GABRB2	5	160721276	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	20668906	160721276	20193984	26	8417											
NOP16	51491	broad.mit.edu	37	5	175811029	175811030	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:175811029_175811030insC	uc003mee.3	-	4	651_652	c.651_652insG	c.(649-654)gggttcfs	p.G217fs	NOP16_uc003med.3_Frame_Shift_Ins_p.G216fs			Q9Y3C1	NOP16_HUMAN	Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.	0						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TTTTCCGTGAACCCCCAGATGA	0.436													C	175811030	-	C	175811029	7	5	125	1	0	1	1	0	0	0	0	0	10537	58	2	0		0	NOP16	5	175811029	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08	15089753	175811029	5104231	27	8418											
ZNF451	26036	broad.mit.edu	37	6	57013164	57013164	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:57013164A>G	uc003pdm.1	+	9	2505	c.2281A>G	c.(2281-2283)Aca>Gca	p.T761A	ZNF451_uc003pdl.3_Missense_Mutation_p.T761A|ZNF451_uc003pdn.1_Missense_Mutation_p.T761A|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.T761A	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGTTCGGCAACAGCACAGAA	0.408													G	57013164	A	G	57013164	3	3	125	1	0	0	0	0	1	0	0	0	17919	43	2	4	2319	4	ZNF451	6	57013164	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08		57013164	114101903	28	8419											
C6orf221	154288	broad.mit.edu	37	6	74073368	74073368	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:74073368C>T	uc003pgt.4	+	2	492	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	147										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CGGGACGCAGCGTTCGGTGGA	0.667													T	74073368	C	T	74073368	3	4	125	1	0	0	0	0	1	0	0	0	2355	768	27	1	449	1	C6orf221	6	74073368	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	17060204	74073368	97041699	29	8420											
HEY2	23493	broad.mit.edu	37	6	126080280	126080280	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:126080280G>A	uc003qad.3	+	4	537	c.346G>A	c.(346-348)Gct>Act	p.A116T	HEY2_uc011ebr.2_Missense_Mutation_p.A70T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	116	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TGACGCACACGCTCTTGCCAT	0.522													A	126080280	G	A	126080280	3	1	125	1	0	0	0	0	1	0	0	0	7079	1087	38	1	364	1	HEY2	6	126080280	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	52006912	126080280	45034787	30	8421											
CALCR	799	broad.mit.edu	37	7	93072970	93072970	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:93072970C>T	uc003umv.2	-	10	1150	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.V250M|CALCR_uc003umw.2_Missense_Mutation_p.V250M	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	266					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AACACAGCCACGACAATGAGT	0.448													T	93072970	C	T	93072970	3	4	125	1	0	0	0	0	1	0	0	0	2579	536	19	1	700	1	CALCR	7	93072970	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		93072970	66065693	31	8422											
JHDM1D	80853	broad.mit.edu	37	7	139833358	139833358	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:139833358G>A	uc003vvm.3	-	2	383	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	127					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTCGAGAGCGTAATTCCTTA	0.378													A	139833358	G	A	139833358	3	1	125	1	0	0	0	0	1	0	0	0	7948	1145	40	1	2518	1	JHDM1D	7	139833358	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	46760388	139833358	19305305	32	8423											
EPHB6	2051	broad.mit.edu	37	7	142568575	142568575	+	Missense_Mutation	SNP	T	T	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:142568575T>A	uc011kst.2	+	19	3771	c.2984T>A	c.(2983-2985)cTg>cAg	p.L995Q	EPHB6_uc011ksu.2_Missense_Mutation_p.L995Q|EPHB6_uc003wbs.3_Missense_Mutation_p.L703Q|EPHB6_uc003wbt.3_Missense_Mutation_p.L469Q|EPHB6_uc003wbu.3_Missense_Mutation_p.L703Q|EPHB6_uc003wbv.3_Missense_Mutation_p.L379Q	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	995	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCATCACCCTGGCTGGCCAC	0.617													A	142568575	T	A	142568575	3	1	125	1	0	0	0	0	1	0	0	0	5178	1580	55	5	3046	5	EPHB6	7	142568575	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08	2735217	142568575	16570088	33	8424											
KEL	3792	broad.mit.edu	37	7	142638355	142638355	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:142638355C>T	uc003wcb.3	-	18	2393	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	728					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)					GAGCTGGCAGCGGCTGGAGGG	0.567													T	142638355	C	T	142638355	3	4	125	1	0	0	0	0	1	0	0	0	8142	768	27	1	19	1	KEL	7	142638355	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	69780	142638355	16500308	34	8425											
XKR6	286046	broad.mit.edu	37	8	11058779	11058779	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr8:11058779C>T	uc003wtk.1	-	0	97	c.70G>A	c.(70-72)Gtg>Atg	p.V24M		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	24	Gly-rich.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCGCTGCCCACCGCCTCGTCC	0.726													T	11058779	C	T	11058779	3	4	125	1	0	0	0	0	1	0	0	0	17432	507	18	3	1867	3	XKR6	8	11058779	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		11058779	135305243	35	8426											
TMEM215	401498	broad.mit.edu	37	9	32784817	32784817	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:32784817C>T	uc022bfh.1	+	0	636	c.636C>T	c.(634-636)aaC>aaT	p.N212N	TMEM215_uc003zri.4_Silent_p.N212N	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	212						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACAAGCAGAACAGCCCGTATG	0.493													T	32784817	C	T	32784817	2	4	125	1	0	0	0	0	0	0	0	1	16135	477	17	3		3	TMEM215	9	32784817	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		32784817	108428614	36	8427											
CCIN	881	broad.mit.edu	37	9	36170861	36170861	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:36170861C>T	uc003zzb.4	+	0	1473	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	454					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCACTGGGGACGTGGTCCAGT	0.557													T	36170861	C	T	36170861	2	4	125	1	0	0	0	0	0	0	0	1	2878	535	19	1		1	CCIN	9	36170861	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3386044	36170861	105042570	37	8428											
FOXB2	442425	broad.mit.edu	37	9	79634932	79634932	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:79634932C>T	uc004ako.1	+	0	362	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	121					brain development|embryo development|pattern specification process|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			breast(1)|lung(8)|ovary(1)	10						CACTTGCACGCGGGAAGCACC	0.687													T	79634932	C	T	79634932	3	4	125	1	0	0	0	0	1	0	0	0	5993	768	27	1	364	1	FOXB2	9	79634932	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	43464071	79634932	61578499	38	8429											
ZNF618	114991	broad.mit.edu	37	9	116731434	116731434	+	Missense_Mutation	SNP	C	C	T	rs143368881	by1000genomes	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:116731434C>T	uc004bid.3	+	1	170	c.71C>T	c.(70-72)gCg>gTg	p.A24V	ZNF618_uc004bib.1_Missense_Mutation_p.A24V|ZNF618_uc004bic.3_Missense_Mutation_p.A24V|ZNF618_uc011lxi.2_Missense_Mutation_p.A24V|ZNF618_uc011lxj.2_Missense_Mutation_p.A24V	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AAAAGCACTGCGAGCAGGTAC	0.557													T	116731434	C	T	116731434	3	4	125	1	0	0	0	0	1	0	0	0	18039	768	27	1	77	1	ZNF618	9	116731434	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	37096502	116731434	24481997	39	8430											
DBH	1621	broad.mit.edu	37	9	136517375	136517375	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:136517375G>A	uc004cel.3	+	7	1352	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	448					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CAGGAGATCCGCATGTTGAAG	0.672													A	136517375	G	A	136517375	3	1	125	1	0	0	0	0	1	0	0	0	4250	1087	38	1	1373	1	DBH	9	136517375	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	19785941	136517375	4696056	40	8431											
SLC34A3	142680	broad.mit.edu	37	9	140127306	140127306	+	Silent	SNP	C	C	T	rs142873841	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:140127306C>T	uc022bqf.1	+	4	596	c.375C>T	c.(373-375)ggC>ggT	p.G125G	SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc011met.2_Silent_p.G125G|SLC34A3_uc004cmf.1_Silent_p.G125G	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	125					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGTCATTGGCGTGCTGGTCA	0.617													T	140127306	C	T	140127306	2	4	125	1	0	0	0	0	0	0	0	1	14569	755	27	1		1	SLC34A3	9	140127306	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3609931	140127306	1086125	41	8432											
C10orf47	254427	broad.mit.edu	37	10	11908649	11908649	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:11908649G>A	uc001ikx.3	+	2	412	c.258G>A	c.(256-258)gtG>gtA	p.V86V	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	86										central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						ATGGAGGAGTGTGCTGCCTCT	0.577													A	11908649	G	A	11908649	2	1	125	1	0	0	0	0	0	0	0	1	1605	1364	48	3		3	C10orf47	10	11908649	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08		11908649	123626098	42	8433											
PPYR1	5540	broad.mit.edu	37	10	47086808	47086808	+	Missense_Mutation	SNP	T	T	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:47086808T>A	uc001jee.3	+	2	444	c.25T>A	c.(25-27)Ttg>Atg	p.L9M	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.L9M|PPYR1_uc021ppu.1_Missense_Mutation_p.L9M	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	9					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCCTGGCCTTGCTGCTCCC	0.493													A	47086808	T	A	47086808	3	1	125	1	0	0	0	0	1	0	0	0	12416	1606	56	5	27	5	PPYR1	10	47086808	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08	35178159	47086808	88447939	43	8434											
PPYR1	5540	broad.mit.edu	37	10	47087737	47087737	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:47087737C>T	uc001jee.3	+	2	1373	c.954C>T	c.(952-954)aaC>aaT	p.N318N	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.N318N|PPYR1_uc021ppu.1_Silent_p.N318N	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	318					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCTGCGTCAACCCATTCATCT	0.572													T	47087737	C	T	47087737	2	4	125	1	0	0	0	0	0	0	0	1	12416	506	18	3		3	PPYR1	10	47087737	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	929	47087737	88447010	44	8435											
KIAA0913	23053	broad.mit.edu	37	10	75553915	75553915	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:75553915C>G	uc001jvj.3	+	12	2891	c.2636C>G	c.(2635-2637)gCa>gGa	p.A879G	KIAA0913_uc001jve.3_Missense_Mutation_p.A879G|KIAA0913_uc009xrl.3_Missense_Mutation_p.A879G|KIAA0913_uc001jvf.3_Missense_Mutation_p.A879G|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.A302G|KIAA0913_uc010qkr.2_Missense_Mutation_p.A302G	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	879							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					GTGAAGCTGGCATACCAGGAG	0.552													G	75553915	C	G	75553915	3	3	125	1	0	0	0	0	1	0	0	0	8200	710	25	5	2686	5	KIAA0913	10	75553915	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	28466178	75553915	59980832	45	8436											
EBF3	253738	broad.mit.edu	37	10	131755521	131755521	+	Splice_Site	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:131755521C>G	uc021qav.1	-	6	613	c.512_splice	c.e6+1	p.R171_splice	EBF3_uc001lki.2_Splice_Site_p.R185_splice	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	185					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTCATCCTTACCTGTCAATGA	0.423													G	131755521	C	G	131755521	5	3	125	1	0	0	0	0	0	0	1	0	4882	521	18	5	1144	5	EBF3	10	131755521	Splice_Site	SNP	C	TCGA-12-5301-01A-01D-1486-08	56201606	131755521	3779226	46	8437											
ZNF215	7762	broad.mit.edu	37	11	6977376	6977376	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:6977376C>T	uc001mey.3	+	6	1756	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Nonsense_Mutation_p.R152*|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	390					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AGCCTTCTGCCGAAGTTCATC	0.393													T	6977376	C	T	6977376	4	4	125	1	0	0	0	0	0	1	0	0	17768	644	23	2	1186	2	ZNF215	11	6977376	Nonsense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		6977376	128029140	47	8438											
OR5P2	120065	broad.mit.edu	37	11	7818191	7818191	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:7818191G>A	uc001mfp.1	-	0	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGAAAGCCGCTGAACCAAG	0.483													A	7818191	G	A	7818191	3	1	125	1	0	0	0	0	1	0	0	0	11178	1087	38	1	673	1	OR5P2	11	7818191	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	840815	7818191	127188325	48	8439											
OR5I1	10798	broad.mit.edu	37	11	55703444	55703444	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:55703444G>A	uc010ris.2	-	0	433	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145W(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACAATCAACCGCATACAGATG	0.428													A	55703444	G	A	55703444	3	1	125	1	0	0	0	0	1	0	0	0	11164	1086	38	1	514	1	OR5I1	11	55703444	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	47885253	55703444	79303072	49	8440											
FGD4	121512	broad.mit.edu	37	12	32763711	32763711	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:32763711A>G	uc010ske.2	+	9	1553	c.1469_splice	c.e9-1	p.K490_splice	FGD4_uc001rlc.3_Splice_Site_p.K463_splice|FGD4_uc001rky.3_Splice_Site_p.K130_splice|FGD4_uc001rkz.3_Splice_Site_p.K378_splice|FGD4_uc001rla.3_Splice_Site_p.K34_splice|FGD4_uc001rlb.1_Splice_Site	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	378	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CCCATTTAGAATCACTTGAAA	0.343													G	32763711	A	G	32763711	2	3	125	1	0	0	0	0	0	0	0	1	5835	115	4	4		4	FGD4	12	32763711	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08		32763711	101088184	50	8441											
KRT75	9119	broad.mit.edu	37	12	52818468	52818468	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:52818468C>T	uc001saj.2	-	8	1511	c.1489G>A	c.(1489-1491)Ggt>Agt	p.G497S		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	497	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGCCCCCACCGAGGCCCAGG	0.622													T	52818468	C	T	52818468	3	4	125	1	0	0	0	0	1	0	0	0	8488	652	23	2	170	2	KRT75	12	52818468	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	20054757	52818468	81033427	51	8442											
KRT6B	3854	broad.mit.edu	37	12	52841572	52841572	+	Missense_Mutation	SNP	C	C	T	rs60627726		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:52841572C>T	uc001sak.3	-	6	1462	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	472	Coil 2.|Rod.		E -> K (in PC2; dbSNP:rs60627726).		ectoderm development	keratin filament	structural constituent of cytoskeleton	p.G471G(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCACTCCTCGCCCTCCAGC	0.597													T	52841572	C	T	52841572	3	4	125	1	0	0	0	0	1	0	0	0	8481	893	31	2	292	2	KRT6B	12	52841572	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	23104	52841572	81010323	52	8443											
ANO4	121601	broad.mit.edu	37	12	101295584	101295584	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:101295584A>G	uc010svm.1	+	1	593	c.21A>G	c.(19-21)ggA>ggG	p.G7G	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Silent_p.G7G|ANO4_uc001thx.2_Silent_p.G7G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	7						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCTCTTCTGGAATCACTAATG	0.522										HNSCC(74;0.22)			G	101295584	A	G	101295584	2	3	125	1	0	0	0	0	0	0	0	1	699	233	9	4		4	ANO4	12	101295584	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08	48454012	101295584	32556311	53	8444											
ACACB	32	broad.mit.edu	37	12	109629703	109629703	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:109629703G>A	uc001tob.3	+	14	2466	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	ACACB_uc001toc.3_Missense_Mutation_p.A783T	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	783					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTTGAACGTGGCCGATGCGAT	0.532													A	109629703	G	A	109629703	3	1	125	1	0	0	0	0	1	0	0	0	107	1203	42	3	2401	3	ACACB	12	109629703	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	8334119	109629703	24222192	54	8445											
VPS33A	65082	broad.mit.edu	37	12	122734578	122734578	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:122734578C>G	uc001ucd.3	-	5	728	c.615G>C	c.(613-615)atG>atC	p.M205I	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	205					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCCTGATCATCATATTGGCCA	0.383													G	122734578	C	G	122734578	3	3	125	1	0	0	0	0	1	0	0	0	17198	826	29	5	1207	5	VPS33A	12	122734578	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	13104875	122734578	11117317	55	8446											
PARP4	143	broad.mit.edu	37	13	25052379	25052379	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:25052379T>C	uc001upl.3	-	12	1590	c.1484A>G	c.(1483-1485)gAt>gGt	p.D495G	PARP4_uc010tdc.2_Missense_Mutation_p.D495G	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	495	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTGGTGCCATCTGTCTCTCC	0.438													C	25052379	T	C	25052379	3	2	125	1	0	0	0	0	1	0	0	0	11463	1435	50	4	3778	4	PARP4	13	25052379	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08		25052379	90117499	56	8447											
NBEA	26960	broad.mit.edu	37	13	36124652	36124652	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:36124652G>A	uc021rid.1	+	41	7158	c.6624G>A	c.(6622-6624)atG>atA	p.M2208I	NBEA_uc021ric.1_Missense_Mutation_p.M2205I|NBEA_uc010abi.3_Missense_Mutation_p.M864I|NBEA_uc010tee.1_Missense_Mutation_p.M1I|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.M1I|NBEA_uc010teg.1_Missense_Mutation_p.M1I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2208						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAAATGGATGTTCAGCGAGA	0.363													A	36124652	G	A	36124652	3	1	125	1	0	0	0	0	1	0	0	0	10187	1377	48	3	6790	3	NBEA	13	36124652	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	11072273	36124652	79045226	57	8448											
SLITRK1	114798	broad.mit.edu	37	13	84455093	84455093	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:84455093G>C	uc001vlk.3	-	0	1436	c.550C>G	c.(550-552)Ctc>Gtc	p.L184V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	184						integral to membrane		p.D183E(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTACCCCGGAGGTCGAGGTGG	0.532													C	84455093	G	C	84455093	3	2	125	1	0	0	0	0	1	0	0	0	14742	1000	35	5	1544	5	SLITRK1	13	84455093	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	48330441	84455093	30714785	58	8449											
NALCN	259232	broad.mit.edu	37	13	101707744	101707744	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:101707744G>A	uc001vox.1	-	43	5309	c.5120C>T	c.(5119-5121)aCt>aTt	p.T1707I		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1707						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCGCGTCAGTCATGGGGTT	0.507													A	101707744	G	A	101707744	3	1	125	1	0	0	0	0	1	0	0	0	10148	1029	36	3	100	3	NALCN	13	101707744	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	17252651	101707744	13462134	59	8450											
OR4M1	441670	broad.mit.edu	37	14	20248846	20248846	+	Missense_Mutation	SNP	G	G	A	rs143164519	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:20248846G>A	uc010tku.2	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTATGACCGCTATGCTGCT	0.502													A	20248846	G	A	20248846	3	1	125	1	0	0	0	0	1	0	0	0	11075	1087	38	1	367	1	OR4M1	14	20248846	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		20248846	87100694	60	8451											
SUPT16H	11198	broad.mit.edu	37	14	21826560	21826560	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:21826560C>T	uc001wao.2	-	19	2667	c.2328G>A	c.(2326-2328)ctG>ctA	p.L776L	SUPT16H_uc001wan.2_Splice_Site	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	776					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGGCTGTTTTCAGTTTGTGCC	0.378													T	21826560	C	T	21826560	2	4	125	1	0	0	0	0	0	0	0	1	15393	813	29	3		3	SUPT16H	14	21826560	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	1577714	21826560	85522980	61	8452											
CTSG	1511	broad.mit.edu	37	14	25044566	25044566	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:25044566C>T	uc001wpq.3	-	1	145	c.108G>A	c.(106-108)gcG>gcA	p.A36A		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	36	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TCTGAAGATACGCCATGTAGG	0.572													T	25044566	C	T	25044566	2	4	125	1	0	0	0	0	0	0	0	1	4035	523	19	1		1	CTSG	14	25044566	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3218006	25044566	82304974	62	8453											
ANPEP	290	broad.mit.edu	37	15	90348339	90348339	+	Nonsense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr15:90348339G>C	uc002bop.4	-	3	1159	c.867C>G	c.(865-867)taC>taG	p.Y289*		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	289	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCTTCTCCACGTAGTCGAACT	0.567													C	90348339	G	C	90348339	4	2	125	1	0	0	0	0	0	1	0	0	710	1140	40	5	2108	5	ANPEP	15	90348339	Nonsense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		90348339	12183053	63	8454											
TPSD1	23430	broad.mit.edu	37	16	1306608	1306608	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr16:1306608C>T	uc002clb.1	+	1	183	c.174C>T	c.(172-174)cgC>cgT	p.R58R	TPSD1_uc010brm.1_5'UTR	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGAGAGTCCGCGGCCCATACT	0.697													T	1306608	C	T	1306608	2	4	125	1	0	0	0	0	0	0	0	1	16422	755	27	1		1	TPSD1	16	1306608	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		1306608	89048145	64	8455											
RBBP6	5930	broad.mit.edu	37	16	24552109	24552109	+	Silent	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr16:24552109A>G	uc002dmh.3	+	0	1202	c.162A>G	c.(160-162)aaA>aaG	p.K54K	RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.3_Silent_p.K54K|RBBP6_uc002dmi.3_Silent_p.K54K|RBBP6_uc010bxr.3_Silent_p.K54K|RBBP6_uc021tfl.1_Non-coding_Transcript	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	54	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGCAGACGAAAGAAGGTAAGG	0.517													G	24552109	A	G	24552109	2	3	125	1	0	0	0	0	0	0	0	1	13103	69	3	4		4	RBBP6	16	24552109	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08	23245501	24552109	65802644	65	8456											
OR1A1	8383	broad.mit.edu	37	17	3119210	3119210	+	Missense_Mutation	SNP	C	C	T	rs144175148	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:3119210C>T	uc010vrc.2	+	0	296	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GGATGCCTAACGCAGATGTAT	0.488													T	3119210	C	T	3119210	3	4	125	1	0	0	0	0	1	0	0	0	10949	536	19	1	298	1	OR1A1	17	3119210	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		3119210	78076000	66	8457											
DNAH2	146754	broad.mit.edu	37	17	7679385	7679385	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:7679385G>A	uc002giu.1	+	29	4879	c.4865G>A	c.(4864-4866)cGg>cAg	p.R1622Q		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1622	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTGACCCTGCGGGACCTTCTC	0.627													A	7679385	G	A	7679385	3	1	125	1	0	0	0	0	1	0	0	0	4602	1116	39	2	4983	2	DNAH2	17	7679385	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	4560175	7679385	73515825	67	8458											
MYO15A	51168	broad.mit.edu	37	17	18047889	18047889	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:18047889G>A	uc021trm.1	+	27	6475	c.6256G>A	c.(6256-6258)Gtg>Atg	p.V2086M	MYO15A_uc021trl.1_Missense_Mutation_p.V2084M	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2086	MyTH4 1.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGAAGCCGTGAGCATCTT	0.607													A	18047889	G	A	18047889	3	1	125	1	0	0	0	0	1	0	0	0	10063	1145	40	1	6362	1	MYO15A	17	18047889	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	10368504	18047889	63147321	68	8459											
GPR179	440435	broad.mit.edu	37	17	36484987	36484987	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:36484987C>T	uc002hpz.3	-	10	4486	c.4465G>A	c.(4465-4467)Ggg>Agg	p.G1489R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1489						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATTTCCTGCCCCATCACGTTA	0.512													T	36484987	C	T	36484987	3	4	125	1	0	0	0	0	1	0	0	0	6674	623	22	3	2642	3	GPR179	17	36484987	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	18437098	36484987	44710223	69	8460											
PGAP3	93210	broad.mit.edu	37	17	37844120	37844120	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:37844120G>A	uc002hsj.3	-	0	191	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.R50C|PGAP3_uc002hsk.3_Missense_Mutation_p.R50C|PGAP3_uc010cvz.3_Missense_Mutation_p.R50C|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	50					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TGGCGGGAGCGGAAGTGATTC	0.657													A	37844120	G	A	37844120	3	1	125	1	0	0	0	0	1	0	0	0	11779	1116	39	2	846	2	PGAP3	17	37844120	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	1359133	37844120	43351090	70	8461											
CLTC	1213	broad.mit.edu	37	17	57746279	57746279	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:57746279A>G	uc002ixr.1	+	13	2725	c.2282A>G	c.(2281-2283)gAg>gGg	p.E761G	CLTC_uc002ixp.3_Missense_Mutation_p.E757G|CLTC_uc002ixq.1_Missense_Mutation_p.E757G	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	757	Heavy chain arm.|Proximal segment.				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		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TACGATCCTGAGCGAGTCAAG	0.398			T	"ALK, TFE3"	"ALCL, renal "								G	57746279	A	G	57746279	3	3	125	1	0	0	0	0	1	0	0	0	3566	304	11	4	2324	4	CLTC	17	57746279	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	19902159	57746279	23448931	71	8462											
GAA	2548	broad.mit.edu	37	17	78082609	78082609	+	Silent	SNP	G	G	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:78082609G>T	uc002jxp.3	+	7	1675	c.1308G>T	c.(1306-1308)cgG>cgT	p.R436R	GAA_uc002jxo.3_Silent_p.R436R|GAA_uc002jxq.3_Silent_p.R436R	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	436					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	AGGGCGGCCGGCGCTACATGA	0.642													T	78082609	G	T	78082609	2	4	125	1	0	0	0	0	0	0	0	1	6147	1190	42	5		5	GAA	17	78082609	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	20336330	78082609	3112601	72	8463											
CEP76	79959	broad.mit.edu	37	18	12699056	12699056	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:12699056G>A	uc002kri.3	-	3	598	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	148					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTTAGAACGAAAACGTTGG	0.373													A	12699056	G	A	12699056	3	1	125	1	0	0	0	0	1	0	0	0	3261	1058	37	2	1573	2	CEP76	18	12699056	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		12699056	65378192	73	8464											
MC5R	4161	broad.mit.edu	37	18	13826367	13826367	+	Silent	SNP	G	G	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:13826367G>T	uc010xaf.2	+	0	825	c.603G>T	c.(601-603)ctG>ctT	p.L201L		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	201					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTTCCTCCTGGTGTCTCTGT	0.587													T	13826367	G	T	13826367	2	4	125	1	0	0	0	0	0	0	0	1	9367	1335	47	5		5	MC5R	18	13826367	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	1127311	13826367	64250881	74	8465											
POTEC	388468	broad.mit.edu	37	18	14542740	14542740	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:14542740G>A	uc010dln.3	-	0	860	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	136										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCTTCTCGACGGACGTGGTAC	0.602													A	14542740	G	A	14542740	3	1	125	1	0	0	0	0	1	0	0	0	12262	1116	39	2	1266	2	POTEC	18	14542740	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	716373	14542740	63534508	75	8466											
ATP8B1	5205	broad.mit.edu	37	18	55328473	55328473	+	Silent	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:55328473C>T	uc002lgw.3	-	21	2760	c.2640G>A	c.(2638-2640)gtG>gtA	p.V880V	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	880					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGTACCTCTTCACCAGGTCCA	0.582													T	55328473	C	T	55328473	2	4	125	1	0	0	0	0	0	0	0	1	1194	813	29	3		3	ATP8B1	18	55328473	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	40785733	55328473	22748775	76	8467											
TNFSF9	8744	broad.mit.edu	37	19	6535064	6535064	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:6535064C>T	uc002mfh.2	+	2	790	c.752C>T	c.(751-753)cCg>cTg	p.P251L		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	251					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTCCCTTCACCGAGGTCGGAA	0.637													T	6535064	C	T	6535064	3	4	125	1	0	0	0	0	1	0	0	0	16309	652	23	2	762	2	TNFSF9	19	6535064	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		6535064	52593919	77	8468											
MUC16	94025	broad.mit.edu	37	19	9068085	9068085	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:9068085G>A	uc002mkp.3	-	2	19565	c.19361C>T	c.(19360-19362)gCg>gTg	p.A6454V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6456	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A6454V(3)|p.A6454E(3)|p.A2087V(1)|p.A2087E(1)		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						CTGTGATGTCGCCCTATGAGG	0.498													A	9068085	G	A	9068085	3	1	125	1	0	0	0	0	1	0	0	0	9973	1087	38	1	24490	1	MUC16	19	9068085	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	2533021	9068085	50060898	78	8469											
RFX1	5989	broad.mit.edu	37	19	14104590	14104591	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:14104590_14104591insG	uc002mxv.3	-	1	337_338	c.65_66insC	c.(64-66)ccgfs	p.P22fs	RFX1_uc010dzi.2_Frame_Shift_Ins_p.P22fs	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	22					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			gggcttgtggcggggcctgtgg	0.653													G	14104591	-	G	14104590	7	5	125	1	0	1	1	0	0	0	0	0	13262	755	27	0	2953	0	RFX1	19	14104590	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08	5036505	14104590	45024393	79	8470											
SLC25A42	284439	broad.mit.edu	37	19	19217127	19217127	+	Missense_Mutation	SNP	A	A	C	rs145774094	by1000genomes	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:19217127A>C	uc002nlf.2	+	5	586	c.430A>C	c.(430-432)Aca>Cca	p.T144P	SLC25A42_uc010xqn.1_Missense_Mutation_p.T196P	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	144					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCTGGAACGACAGCCGCTTC	0.642													C	19217127	A	C	19217127	3	2	125	1	0	0	0	0	1	0	0	0	14507	275	10	5	448	5	SLC25A42	19	19217127	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	5112537	19217127	39911856	80	8471											
MLL2	9757	broad.mit.edu	37	19	36219962	36219962	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:36219962G>A	uc021usv.1	+	20	4764	c.4764G>A	c.(4762-4764)ggG>ggA	p.G1588G	MLL2_uc021usu.1_Silent_p.G402G	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5039					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCAAATACGGGGATGCAGACT	0.607			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	36219962	G	A	36219962	2	1	125	1	0	0	0	0	0	0	0	1	9621	1219	43	3		3	MLL2	19	36219962	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	17002835	36219962	22909021	81	8472											
NLRP12	91662	broad.mit.edu	37	19	54314124	54314124	+	Silent	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:54314124G>A	uc002qcj.4	-	2	1009	c.789C>T	c.(787-789)agC>agT	p.S263S	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.S263S|NLRP12_uc002qci.4_Silent_p.S263S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.S263S	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	263	NACHT.				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			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)		GGTCTTGCATGCTGCATTCCG	0.567													A	54314124	G	A	54314124	2	1	125	1	0	0	0	0	0	0	0	1	10474	1310	46	3		3	NLRP12	19	54314124	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	18094162	54314124	4814859	82	8473											
JPH2	57158	broad.mit.edu	37	20	42788558	42788558	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr20:42788558G>C	uc002xli.1	-	1	1742	c.869C>G	c.(868-870)aCc>aGc	p.T290S		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	290					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCATGTAGGTCTCGGTGGT	0.701													C	42788558	G	C	42788558	3	2	125	1	0	0	0	0	1	0	0	0	7961	1261	44	5	1237	5	JPH2	20	42788558	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		42788558	20236962	83	8474											
CDH22	64405	broad.mit.edu	37	20	44828064	44828064	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr20:44828064G>A	uc002xrm.2	-	6	1820	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	CDH22_uc010ghk.1_Missense_Mutation_p.A474V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	474	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGCTCACCCGCCTCCATGGC	0.667													A	44828064	G	A	44828064	3	1	125	1	0	0	0	0	1	0	0	0	3107	1087	38	1	1085	1	CDH22	20	44828064	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	2039506	44828064	18197456	84	8475											
USP16	10600	broad.mit.edu	37	21	30409731	30409731	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr21:30409731G>A	uc002ymy.3	+	5	785	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	USP16_uc002ymx.3_Missense_Mutation_p.V194M|USP16_uc002ymw.3_Missense_Mutation_p.V195M|USP16_uc011acm.2_Missense_Mutation_p.V180M|USP16_uc011acn.2_Intron|USP16_uc011aco.2_5'Flank	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	195					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CCAAATAACCGTGAAAGGACT	0.348													A	30409731	G	A	30409731	3	1	125	1	0	0	0	0	1	0	0	0	17044	1145	40	1	601	1	USP16	21	30409731	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		30409731	17720164	85	8476											
FBLN1	2192	broad.mit.edu	37	22	45944523	45944524	+	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr22:45944523_45944524insCCAC	uc010gzz.3	+	13	1733_1734	c.1586_1587insCCAC	c.(1585-1587)ggcfs	p.G529fs	FBLN1_uc003bgg.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgh.3_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgi.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgj.1_Frame_Shift_Ins_p.G491fs	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	491	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			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)		CCCACCGGGGGCCACATCTGCT	0.644													CCAC	45944524	-	CCAC	45944523	7	5	125	1	0	1	1	0	0	0	0	0	5698	1203	42	0	1522	0	FBLN1	22	45944523	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08		45944523	5360043	86	8477											
TUBGCP6	85378	broad.mit.edu	37	22	50657589	50657589	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr22:50657589G>A	uc003bkb.1	-	19	5046	c.4534C>T	c.(4534-4536)Cac>Tac	p.H1512Y	TUBGCP6_uc003bka.1_Missense_Mutation_p.H599Y|TUBGCP6_uc010har.1_Missense_Mutation_p.H1504Y|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1512					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			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)		GCCTCCAGGTGCAGCTCCACG	0.642													A	50657589	G	A	50657589	3	1	125	1	0	0	0	0	1	0	0	0	16767	1319	46	3	949	3	TUBGCP6	22	50657589	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	4713066	50657589	646977	87	8478											
F9	2158	broad.mit.edu	37	X	138643736	138643736	+	Nonsense_Mutation	SNP	C	C	T	rs137852250		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chrX:138643736C>T	uc004fas.1	+	7	921	c.892C>T	c.(892-894)Cga>Tga	p.R298*	F9_uc004fat.1_Nonsense_Mutation_p.R260*	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	298	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AAATGTGATTCGAATTATTCC	0.353													T	138643736	C	T	138643736	4	4	125	1	0	0	0	0	0	1	0	0	5351	876	31	2	922	2	F9	23	138643736	Nonsense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		138643736	16626824	88	8479											
CYP4A11	1579	broad.mit.edu	37	1	47402416	47402416	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:47402416G>A	uc001cqp.4	-	3	481	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	CYP4A11_uc001cqq.2_Missense_Mutation_p.R144W|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	144					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTCAGCATCCGTCGATGCTGG	0.527													A	47402416	G	A	47402416	3	1	126	1	0	0	0	0	1	0	0	0	4183	1144	40	1	1165	1	CYP4A11	1	47402416	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		47402416	201848205	1	8480											
DOCK7	85440	broad.mit.edu	37	1	63001286	63001286	+	Silent	SNP	C	C	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:63001286C>A	uc001daq.3	-	28	3523	c.3489G>T	c.(3487-3489)acG>acT	p.T1163T	DOCK7_uc001dan.3_Silent_p.T1024T|DOCK7_uc001dao.3_Silent_p.T1024T|DOCK7_uc001dap.3_Silent_p.T1132T|DOCK7_uc001dam.3_Silent_p.T343T|DOCK7_uc010oov.1_5'UTR	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1163					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						CTTGTACATTCGTAGAAAATC	0.398													A	63001286	C	A	63001286	2	1	126	1	0	0	0	0	0	0	0	1	4692	871	31	5		5	DOCK7	1	63001286	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	15598870	63001286	186249335	2	8481											
VTCN1	79679	broad.mit.edu	37	1	117699373	117699373	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:117699373G>A	uc001ehb.3	-	2	373	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	90	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGCTCCGACAGCTCATCTTTG	0.458													A	117699373	G	A	117699373	2	1	126	1	0	0	0	0	0	0	0	1	17231	962	34	3		3	VTCN1	1	117699373	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	54698087	117699373	131551248	3	8482											
TXNIP	10628	broad.mit.edu	37	1	145440100	145440100	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:145440100G>A	uc001enn.4	+	3	875	c.534G>A	c.(532-534)gtG>gtA	p.V178V	TXNIP_uc010oys.2_Silent_p.V123V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	178					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.R177L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGGGCGGGTGTCTGTCTCTG	0.433													A	145440100	G	A	145440100	2	1	126	1	0	0	0	0	0	0	0	1	16800	1364	48	3		3	TXNIP	1	145440100	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	27740727	145440100	103810521	4	8483											
NR1I3	9970	broad.mit.edu	37	1	161203002	161203002	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:161203002G>A	uc001fzx.3	-	3	568	c.365C>T	c.(364-366)aCc>aTc	p.T122I	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.T122I|NR1I3_uc001fzm.3_Missense_Mutation_p.T47I|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Missense_Mutation_p.T122I|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Missense_Mutation_p.T122I|NR1I3_uc001fzw.3_Missense_Mutation_p.T122I|NR1I3_uc001fzz.3_Missense_Mutation_p.T122I|NR1I3_uc001fzh.3_Missense_Mutation_p.T93I|NR1I3_uc001gab.3_Missense_Mutation_p.T122I|NR1I3_uc001gac.3_Missense_Mutation_p.T93I|NR1I3_uc001fzp.3_Missense_Mutation_p.T122I|NR1I3_uc001fzg.3_Missense_Mutation_p.T93I|NR1I3_uc001gaa.3_Missense_Mutation_p.T122I|NR1I3_uc001fzj.3_Missense_Mutation_p.T93I|NR1I3_uc001fzi.3_Missense_Mutation_p.T93I|NR1I3_uc001fzl.3_Missense_Mutation_p.T93I|NR1I3_uc001fzk.3_Missense_Mutation_p.T93I|NR1I3_uc010pkm.2_Missense_Mutation_p.T93I|NR1I3_uc010pkn.1_Missense_Mutation_p.T122I	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	122					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATGTGGCGGGTGTGGGCCCC	0.557													A	161203002	G	A	161203002	3	1	126	1	0	0	0	0	1	0	0	0	10621	1261	44	3	827	3	NR1I3	1	161203002	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	15762902	161203002	88047619	5	8484											
SLC30A3	7781	broad.mit.edu	37	2	27481038	27481038	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:27481038G>A	uc002rjk.3	-	2	601	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	SLC30A3_uc002rjj.3_5'UTR|SLC30A3_uc010ylh.2_Missense_Mutation_p.H134Y	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	139					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAACGGTGCCAGCCAAAG	0.637													A	27481038	G	A	27481038	3	1	126	1	0	0	0	0	1	0	0	0	14556	1319	46	3	775	3	SLC30A3	2	27481038	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		27481038	215718335	6	8485											
IL1A	3552	broad.mit.edu	37	2	113537182	113537182	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:113537182C>T	uc002tig.3	-	4	1341	c.381G>A	c.(379-381)atG>atA	p.M127I		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	127					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TGATGATCCTCATAAAGTTGT	0.393													T	113537182	C	T	113537182	3	4	126	1	0	0	0	0	1	0	0	0	7650	826	29	3	446	3	IL1A	2	113537182	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	86056144	113537182	129662191	7	8486											
ARMC9	80210	broad.mit.edu	37	2	232127073	232127073	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:232127073A>T	uc002vrq.4	+	11	1193	c.1081A>T	c.(1081-1083)Atc>Ttc	p.I361F	ARMC9_uc002vrp.4_Missense_Mutation_p.I361F|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	361							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCAAGCCTACATCAGCAATGA	0.498													T	232127073	A	T	232127073	3	4	126	1	0	0	0	0	1	0	0	0	958	217	8	5	1123	5	ARMC9	2	232127073	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08	118589891	232127073	11072300	8	8487											
RAD54L2	23132	broad.mit.edu	37	3	51690165	51690165	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:51690165C>T	uc011bdt.2	+	18	3330	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*	RAD54L2_uc003dbh.3_Nonsense_Mutation_p.Q658*|RAD54L2_uc011bdu.2_Nonsense_Mutation_p.Q763*|RAD54L2_uc003dbj.3_Nonsense_Mutation_p.Q395*	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1069						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGTCCTTGTGCAGAAGGTGGT	0.493													T	51690165	C	T	51690165	4	4	126	1	0	0	0	0	0	1	0	0	12994	711	25	3	3275	3	RAD54L2	3	51690165	Nonsense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		51690165	146332265	9	8488											
DPPA2	151871	broad.mit.edu	37	3	109028077	109028077	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:109028077C>G	uc003dxo.3	-	3	529	c.282G>C	c.(280-282)aaG>aaC	p.K94N		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	94	SAP.					nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGACACACCTTATTAATGG	0.443													G	109028077	C	G	109028077	3	3	126	1	0	0	0	0	1	0	0	0	4734	680	24	5	634	5	DPPA2	3	109028077	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	57337912	109028077	88994353	10	8489											
COL6A5	256076	broad.mit.edu	37	3	130095557	130095557	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:130095557C>T	uc010htj.1	+	2	1039	c.545C>T	c.(544-546)aCa>aTa	p.T182I	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	182	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCCATGGCCACATCCCATTTC	0.473													T	130095557	C	T	130095557	3	4	126	1	0	0	0	0	1	0	0	0	3702	478	17	3	551	3	COL6A5	3	130095557	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	21067480	130095557	67926873	11	8490											
PDGFRA	5156	broad.mit.edu	37	4	55133558	55133558	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr4:55133558T>C	uc003han.4	+	5	1193	c.862T>C	c.(862-864)Tac>Cac	p.Y288H	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.Y182H|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	288	Ig-like C2-type 3.				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			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)	CAGTGGAGATTACGAATGTGC	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55133558	T	C	55133558	3	2	126	1	0	0	0	0	1	0	0	0	11661	1754	61	4	880	4	PDGFRA	4	55133558	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08		55133558	136020718	12	8491											
RBM46	166863	broad.mit.edu	37	4	155720138	155720138	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr4:155720138T>C	uc003ioo.3	+	3	997	c.824T>C	c.(823-825)tTt>tCt	p.F275S	RBM46_uc011cim.1_Missense_Mutation_p.F275S|RBM46_uc003iop.1_Missense_Mutation_p.F275S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	275	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GATTATGCTTTTGTTCACTTT	0.363													C	155720138	T	C	155720138	3	2	126	1	0	0	0	0	1	0	0	0	13140	1841	64	4	834	4	RBM46	4	155720138	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	100586580	155720138	35434138	13	8492											
LPCAT1	79888	broad.mit.edu	37	5	1494825	1494825	+	Silent	SNP	C	C	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:1494825C>A	uc003jcm.3	-	2	600	c.483G>T	c.(481-483)ccG>ccT	p.P161P		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	161					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTCCCCAGATCGGGATGTCTC	0.597													A	1494825	C	A	1494825	2	1	126	1	0	0	0	0	0	0	0	1	8910	871	31	5		5	LPCAT1	5	1494825	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08		1494825	179420435	14	8493											
HSPB3	8988	broad.mit.edu	37	5	53751847	53751847	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:53751847C>T	uc003jph.2	+	0	417	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.	76					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		p.D76V(1)|p.L75L(1)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547													T	53751847	C	T	53751847	2	4	126	1	0	0	0	0	0	0	0	1	7421	535	19	1		1	HSPB3	5	53751847	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	52257022	53751847	127163413	15	8494											
CTNNA1	1495	broad.mit.edu	37	5	138221907	138221907	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:138221907C>T	uc003ldh.3	+	7	1164	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	CTNNA1_uc011cyx.2_Missense_Mutation_p.R254C|CTNNA1_uc011cyy.2_Missense_Mutation_p.R234C|CTNNA1_uc003ldi.3_Missense_Mutation_p.R55C|CTNNA1_uc003ldj.3_Missense_Mutation_p.R357C|CTNNA1_uc003ldl.3_5'UTR	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	357	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCAGGCTGGACGTAAAGAAAG	0.378													T	138221907	C	T	138221907	3	4	126	1	0	0	0	0	1	0	0	0	4012	536	19	1	1095	1	CTNNA1	5	138221907	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	84470060	138221907	42693353	16	8495											
PCDHGC5	56107	broad.mit.edu	37	5	140782734	140782734	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:140782734C>T	uc003lkh.2	+	0	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.T72M	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	72	Cadherin 1.				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)			AGAGGTAGGACGCAGCTTTTC	0.622													T	140782734	C	T	140782734	3	4	126	1	0	0	0	0	1	0	0	0	11571	536	19	1		1	PCDHGC5	5	140782734	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	2560827	140782734	40132526	17	8496											
BTNL8	79908	broad.mit.edu	37	5	180377067	180377067	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:180377067C>T	uc003mmp.3	+	7	1260	c.1026C>T	c.(1024-1026)taC>taT	p.Y342Y	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Silent_p.Y217Y|BTNL8_uc010jlm.3_Silent_p.Y226Y|BTNL8_uc011dhh.2_Silent_p.Y158Y	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	342	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAACATTACTGGGAGGTGG	0.522													T	180377067	C	T	180377067	2	4	126	1	0	0	0	0	0	0	0	1	1567	576	20	3		3	BTNL8	5	180377067	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	39594333	180377067	538193	18	8497											
KIF13A	63971	broad.mit.edu	37	6	17772259	17772259	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:17772259G>A	uc003ncg.4	-	36	4516	c.4356C>T	c.(4354-4356)acC>acT	p.T1452T	KIF13A_uc003ncf.3_Silent_p.T1439T|KIF13A_uc003nch.4_Silent_p.T1452T|KIF13A_uc003nci.4_Silent_p.T1439T|KIF13A_uc003nce.2_Silent_p.T38T	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1452					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGGGCTGACGGTTAAGGCAT	0.433													A	17772259	G	A	17772259	2	1	126	1	0	0	0	0	0	0	0	1	8274	1103	39	2		2	KIF13A	6	17772259	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08		17772259	153342808	19	8498											
DAXX	1616	broad.mit.edu	37	6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:33289539C>T	uc003oec.3	-	1	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_uc021ywn.1_Missense_Mutation_p.G55D|DAXX_uc021ywo.1_Missense_Mutation_p.G55D|DAXX_uc011dre.2_Missense_Mutation_p.G67D|DAXX_uc003oed.3_Missense_Mutation_p.G55D|DAXX_uc011drd.2_Intron|DAXX_uc010juw.2_5'UTR	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	55	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTCTTGCCGCCCGAACT	0.602			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								T	33289539	C	T	33289539	3	4	126	1	0	0	0	0	1	0	0	0	4243	739	26	3	2086	3	DAXX	6	33289539	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	15517280	33289539	137825528	20	8499											
KPNA5	3841	broad.mit.edu	37	6	117023258	117023258	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:117023258C>G	uc003pxh.3	+	5	643	c.512C>G	c.(511-513)gCt>gGt	p.A171G		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	168	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GAAACTGGGGCTGTTCCGATT	0.338													G	117023258	C	G	117023258	3	3	126	1	0	0	0	0	1	0	0	0	8433	797	28	5	534	5	KPNA5	6	117023258	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	83733719	117023258	54091809	21	8500											
UTRN	7402	broad.mit.edu	37	6	144757266	144757266	+	Missense_Mutation	SNP	A	A	T	rs150684617		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:144757266A>T	uc003qkt.3	+	8	1143	c.1051A>T	c.(1051-1053)Acc>Tcc	p.T351S	UTRN_uc010khq.1_Missense_Mutation_p.T351S	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	351	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGTTTGCAACCCATGAAGT	0.453													T	144757266	A	T	144757266	3	4	126	1	0	0	0	0	1	0	0	0	17100	43	2	5	1085	5	UTRN	6	144757266	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08	27734008	144757266	26357801	22	8501											
DMTF1	9988	broad.mit.edu	37	7	86811558	86811558	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr7:86811558A>G	uc003uih.3	+	9	1051	c.725A>G	c.(724-726)cAt>cGt	p.H242R	DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Missense_Mutation_p.H154R|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.H242R|DMTF1_uc003uin.3_5'UTR	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	242	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CGGATAAAGCATGGCAATGAC	0.433													G	86811558	A	G	86811558	3	3	126	1	0	0	0	0	1	0	0	0	4592	217	8	4	755	4	DMTF1	7	86811558	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08		86811558	72327105	23	8502											
TRPV5	56302	broad.mit.edu	37	7	142605705	142605705	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr7:142605705T>C	uc003wby.1	-	14	2429	c.2165A>G	c.(2164-2166)gAt>gGt	p.D722G		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	722	Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCTCTCCATCCCCCTCACT	0.567													C	142605705	T	C	142605705	3	2	126	1	0	0	0	0	1	0	0	0	16596	1435	50	4	28	4	TRPV5	7	142605705	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	55794147	142605705	16532958	24	8503											
PTK2B	2185	broad.mit.edu	37	8	27296903	27296903	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:27296903G>A	uc003xfn.2	+	24	2630	c.1822G>A	c.(1822-1824)Gtc>Atc	p.V608I	PTK2B_uc022ate.1_Missense_Mutation_p.V608I|PTK2B_uc003xfp.2_Missense_Mutation_p.V608I|PTK2B_uc003xfq.2_Missense_Mutation_p.V608I|PTK2B_uc003xfr.1_Missense_Mutation_p.V354I	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	608	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGCCAGTGACGTCTGGATGTT	0.547													A	27296903	G	A	27296903	3	1	126	1	0	0	0	0	1	0	0	0	12763	1145	40	1	1896	1	PTK2B	8	27296903	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		27296903	119067119	25	8504											
GEM	2669	broad.mit.edu	37	8	95264452	95264452	+	Splice_Site	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:95264452C>T	uc003ygi.3	-	4	533	c.409_splice	c.e4-1	p.G137_splice	GEM_uc003ygj.3_Splice_Site_p.G137_splice	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	137					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTTTCCCCCTAATGAAACA	0.453													T	95264452	C	T	95264452	5	4	126	1	0	0	0	0	0	0	1	0	6329	695	24	3	490	3	GEM	8	95264452	Splice_Site	SNP	C	TCGA-14-0740-01B-01D-1845-08	67967549	95264452	51099570	26	8505											
ZFAT	57623	broad.mit.edu	37	8	135613849	135613849	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:135613849C>T	uc003yup.3	-	5	2299	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	ZFAT_uc003yun.3_Missense_Mutation_p.A693T|ZFAT_uc003yuo.3_Missense_Mutation_p.A693T|ZFAT_uc010meh.3_Missense_Mutation_p.A693T|ZFAT_uc010mej.3_Missense_Mutation_p.A643T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.A693T|ZFAT_uc003yur.3_Missense_Mutation_p.A693T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTCAGGGGCAGCTTTGCAA	0.557													T	135613849	C	T	135613849	3	4	126	1	0	0	0	0	1	0	0	0	17629	710	25	3	1662	3	ZFAT	8	135613849	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	40349397	135613849	10750173	27	8506											
DOCK8	81704	broad.mit.edu	37	9	439344	439344	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:439344G>A	uc003zgf.2	+	39	5291	c.5179G>A	c.(5179-5181)Ggc>Agc	p.G1727S	DOCK8_uc022bcu.1_Missense_Mutation_p.G1659S|DOCK8_uc010mgv.3_Missense_Mutation_p.G1627S|DOCK8_uc010mgu.3_Missense_Mutation_p.G1029S|DOCK8_uc003zgk.2_Missense_Mutation_p.G1185S	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1727	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.Y1726H(1)|p.Y1726F(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CACCGAGAGTGGCCTGGTAGG	0.622													A	439344	G	A	439344	3	1	126	1	0	0	0	0	1	0	0	0	4693	1348	47	3	5337	3	DOCK8	9	439344	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		439344	140774087	28	8507											
COL15A1	1306	broad.mit.edu	37	9	101788194	101788194	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:101788194G>A	uc004azb.1	+	15	2195	c.1989G>A	c.(1987-1989)gaG>gaA	p.E663E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	663	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.E663D(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGCCCTGAGGGACAGCCTG	0.582													A	101788194	G	A	101788194	2	1	126	1	0	0	0	0	0	0	0	1	3672	991	35	3		3	COL15A1	9	101788194	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	101348850	101788194	39425237	29	8508											
ABCA1	19	broad.mit.edu	37	9	107555100	107555100	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:107555100C>G	uc004bcl.3	-	41	6128	c.5724G>C	c.(5722-5724)caG>caC	p.Q1908H		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1908					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATGTCATTCTGGCCTCCAC	0.423													G	107555100	C	G	107555100	3	3	126	1	0	0	0	0	1	0	0	0	28	912	32	5	1097	5	ABCA1	9	107555100	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	5766906	107555100	33658331	30	8509											
RALGDS	26301	broad.mit.edu	37	9	136031442	136031442	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:136031442G>T	uc011mcw.2	-	3	466	c.185C>A	c.(184-186)gCt>gAt	p.A62D	RALGDS_uc010nab.3_Missense_Mutation_p.L50M|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Missense_Mutation_p.L50M|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Missense_Mutation_p.L50M	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA.	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTGTAGTGCAGCTTCATGTTG	0.567			T	CIITA	"PMBL, Hodgkin Lymphona, "								T	136031442	G	T	136031442	3	4	126	1	0	0	0	0	1	0	0	0	13016	962	34	5		5	RALGDS	9	136031442	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	28476342	136031442	5181989	31	8510											
CYP2C19	1562	broad.mit.edu	37	10	96443660	96443660	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:96443660G>A	uc001kjv.4	+	0	410	c.84G>A	c.(82-84)agG>agA	p.R28R	CYP2C19_uc001kjw.4_Silent_p.R28R	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	28					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAAGAGGGAGGCTCCCGTCTG	0.483													A	96443660	G	A	96443660	2	1	126	1	0	0	0	0	0	0	0	1	4166	1194	42	3		3	CYP2C19	10	96443660	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08		96443660	39091087	32	8511											
CYP2C19	1557	broad.mit.edu	37	10	96612523	96612523	+	Missense_Mutation	SNP	G	G	A	rs138112316		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:96612523G>A	uc010qnz.2	+	8	1325	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CYP2C19_uc010qny.2_Missense_Mutation_p.R420H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	442			R -> C (in allele CYP2C19*16; lowered catalytic activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R442H(4)|p.R442L(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCCTGGCCCGCATGGAGCTG	0.433													A	96612523	G	A	96612523	3	1	126	1	0	0	0	0	1	0	0	0	4166	1087	38	1	1359	1	CYP2C19	10	96612523	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	168863	96612523	38922224	33	8512											
BTBD16	118663	broad.mit.edu	37	10	124066797	124066797	+	Nonsense_Mutation	SNP	T	T	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:124066797T>A	uc001lgc.1	+	9	1136	c.885T>A	c.(883-885)taT>taA	p.Y295*	BTBD16_uc001lgd.1_Nonsense_Mutation_p.Y294*	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	295										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTCCGACTTATGAAACCGTGA	0.353													A	124066797	T	A	124066797	4	1	126	1	0	0	0	0	0	1	0	0	1541	1471	51	5	919	5	BTBD16	10	124066797	Nonsense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	27454274	124066797	11467950	34	8513											
OR4C46	119749	broad.mit.edu	37	11	51515606	51515606	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr11:51515606G>A	uc010ric.2	+	0	325	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CGGAGGTGCAGAGGGCATCCT	0.473													A	51515606	G	A	51515606	3	1	126	1	0	0	0	0	1	0	0	0	11051	943	33	3	327	3	OR4C46	11	51515606	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		51515606	83490910	35	8514											
CPSF6	11052	broad.mit.edu	37	12	69652697	69652697	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:69652697C>T	uc001sut.4	+	5	1132	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	CPSF6_uc001suu.4_Missense_Mutation_p.P378L|CPSF6_uc010stk.2_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	341	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	p.P341P(1)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GCTCCTCCTCCGCATCTTCCT	0.617													T	69652697	C	T	69652697	3	4	126	1	0	0	0	0	1	0	0	0	3829	652	23	2	1044	2	CPSF6	12	69652697	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		69652697	64199198	36	8515											
SLC6A15	55117	broad.mit.edu	37	12	85255645	85255645	+	Silent	SNP	T	T	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:85255645T>A	uc001szv.3	-	11	2452	c.1959A>T	c.(1957-1959)gcA>gcT	p.A653A	SLC6A15_uc010sul.2_Silent_p.A546A	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	653					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGGTCACAGATGCTAAATTAC	0.438													A	85255645	T	A	85255645	2	1	126	1	0	0	0	0	0	0	0	1	14678	1451	51	5		5	SLC6A15	12	85255645	Silent	SNP	T	TCGA-14-0740-01B-01D-1845-08	15602948	85255645	48596250	37	8516											
ARL1	400	broad.mit.edu	37	12	101794864	101794864	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:101794864T>A	uc001tib.3	-	3	461	c.312A>T	c.(310-312)aaA>aaT	p.K104N	ARL1_uc010svn.2_Missense_Mutation_p.K58N|ARL1_uc010svo.2_Non-coding_Transcript	NM_001177	NP_001168	P40616	ARL1_HUMAN	Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.	104					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CTAACTCTGATTTGGAAATGC	0.348													A	101794864	T	A	101794864	3	1	126	1	0	0	0	0	1	0	0	0	925	1490	52	5	245	5	ARL1	12	101794864	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	16539219	101794864	32057031	38	8517											
CDX2	1045	broad.mit.edu	37	13	28537311	28537311	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr13:28537311A>G	uc001urv.3	-	2	1057	c.883T>C	c.(883-885)Tct>Cct	p.S295P		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	295					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CCAGGGACAGAGCCAGGCACT	0.657			T	ETV6	AML								G	28537311	A	G	28537311	3	3	126	1	0	0	0	0	1	0	0	0	3183	304	11	4	62	4	CDX2	13	28537311	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08		28537311	86632567	39	8518											
TEP1	7011	broad.mit.edu	37	14	20841727	20841727	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr14:20841727G>A	uc001vxe.3	-	45	6660	c.6620C>T	c.(6619-6621)tCa>tTa	p.S2207L	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Missense_Mutation_p.S1550L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S2099L|TEP1_uc010tlh.1_Missense_Mutation_p.S545L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2207					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			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)		CAGAAGCTCTGACCCAGGCTG	0.577													A	20841727	G	A	20841727	3	1	126	1	0	0	0	0	1	0	0	0	15756	1294	45	3	1303	3	TEP1	14	20841727	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		20841727	86507813	40	8519											
BCL11B	64919	broad.mit.edu	37	14	99642350	99642351	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr14:99642350_99642351insCA	uc001yga.3	-	3	1089_1090	c.822_823insTG	c.(820-825)gtggcgfs	p.V274fs	BCL11B_uc001ygb.3_Frame_Shift_Ins_p.V203fs	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	274						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGGACTGCGCCACGGCCTCCG	0.718			T	TLX3	T-ALL								CA	99642351	-	CA	99642350	7	5	126	1	0	1	1	0	0	0	0	0	1364	739	26	0	1865	0	BCL11B	14	99642350	Frame_Shift_Ins	INS	-	TCGA-14-0740-01B-01D-1845-08	78800623	99642350	7707190	41	8520											
CASC5	57082	broad.mit.edu	37	15	40911168	40911168	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:40911168T>G	uc010bbs.1	+	9	573	c.412T>G	c.(412-414)Ttg>Gtg	p.L138V	CASC5_uc010ucq.1_Intron|CASC5_uc001zme.3_Missense_Mutation_p.L112V|CASC5_uc010bbt.1_Missense_Mutation_p.L112V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	138	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GATGAACACATTGCTTTCTGC	0.333													G	40911168	T	G	40911168	3	3	126	1	0	0	0	0	1	0	0	0	2663	1490	52	5	446	5	CASC5	15	40911168	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08		40911168	61620224	42	8521											
FES	2242	broad.mit.edu	37	15	91438682	91438682	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:91438682C>T	uc002bpv.3	+	18	2482	c.2363C>T	c.(2362-2364)gCc>gTc	p.A788V	FES_uc010uqj.2_Missense_Mutation_p.A660V|FES_uc010uqk.2_Missense_Mutation_p.A770V|FES_uc002bpx.3_Missense_Mutation_p.A718V|FES_uc002bpy.3_Missense_Mutation_p.A730V|FES_uc010bny.3_Missense_Mutation_p.A647V	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	788	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTCCTGATGCCGTGTTCAGG	0.632													T	91438682	C	T	91438682	3	4	126	1	0	0	0	0	1	0	0	0	5820	739	26	3	2433	3	FES	15	91438682	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	50527514	91438682	11092710	43	8522											
ADAMTS17	170691	broad.mit.edu	37	15	100537641	100537641	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:100537641G>A	uc002bvv.1	-	18	2824	c.2745C>T	c.(2743-2745)agC>agT	p.S915S		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	915	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCCTTCACAGCTCTGCACTg	0.677													A	100537641	G	A	100537641	2	1	126	1	0	0	0	0	0	0	0	1	262	962	34	3		3	ADAMTS17	15	100537641	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	9098959	100537641	1993751	44	8523											
ZKSCAN2	342357	broad.mit.edu	37	16	25251946	25251946	+	Missense_Mutation	SNP	C	C	T	rs148950715	byFrequency	TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr16:25251946C>T	uc002dod.4	-	6	2502	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.D495N	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	699					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTGCTGGGGTCGGTACTCTGG	0.418													T	25251946	C	T	25251946	3	4	126	1	0	0	0	0	1	0	0	0	17684	884	31	2	812	2	ZKSCAN2	16	25251946	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		25251946	65102807	45	8524											
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			T	7577548	C	T	7577548	3	4	126	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		7577548	73617662	46	8525											
PIRT	644139	broad.mit.edu	37	17	10728644	10728644	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:10728644C>T	uc010col.3	-	1	614	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	PIRT_uc021tqe.1_Missense_Mutation_p.G107R	NM_001101387	NP_001094857	P0C851	PIRT_HUMAN	Homo sapiens phosphoinositide-interacting regulator of transient receptor potential channels (PIRT), mRNA.	107						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CACACCAGCCCGCACACCAGC	0.527													T	10728644	C	T	10728644	3	4	126	1	0	0	0	0	1	0	0	0	11945	652	23	2	98	2	PIRT	17	10728644	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	3151096	10728644	70466566	47	8526											
CCL3	6348	broad.mit.edu	37	17	34416597	34416597	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:34416597C>T	uc002hkv.3	-	1	222	c.120G>A	c.(118-120)cgG>cgA	p.R40R		NM_002983	NP_002974	P10147	CCL3_HUMAN	Homo sapiens chemokine (C-C motif) ligand 3 (CCL3), mRNA.	40		Involved in GAG binding.			cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGGAATCTGCCGGGAGGTGT	0.542													T	34416597	C	T	34416597	2	4	126	1	0	0	0	0	0	0	0	1	2901	726	26	3		3	CCL3	17	34416597	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	23687953	34416597	46778613	48	8527											
KIF18B	146909	broad.mit.edu	37	17	43004364	43004364	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:43004364C>T	uc010wji.2	-	13	2469	c.2368G>A	c.(2368-2370)Gtt>Att	p.V790I	KIF18B_uc002iht.3_Missense_Mutation_p.V799I|KIF18B_uc010wjh.2_Missense_Mutation_p.V787I	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.									p.V799I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACCTCGCAACGCGCTTCTTC	0.637													T	43004364	C	T	43004364	3	4	126	1	0	0	0	0	1	0	0	0	8281	536	19	1	210	1	KIF18B	17	43004364	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	8587767	43004364	38190846	49	8528											
MUC16	94025	broad.mit.edu	37	19	9077406	9077406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:9077406C>T	uc002mkp.3	-	2	10244	c.10040G>A	c.(10039-10041)tGg>tAg	p.W3347*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3348	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						AGAGCCATGCCACATAGAGAA	0.502													T	9077406	C	T	9077406	4	4	126	1	0	0	0	0	0	1	0	0	9973	595	21	3	33811	3	MUC16	19	9077406	Nonsense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		9077406	50051577	50	8529											
C19orf54	284325	broad.mit.edu	37	19	41250512	41250512	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:41250512G>A	uc002oou.1	-	2	589	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	C19orf54_uc002oow.1_Missense_Mutation_p.T26M|C19orf54_uc002oox.1_Non-coding_Transcript|C19orf54_uc002ooy.1_Missense_Mutation_p.R19W|C19orf54_uc010xvs.1_Non-coding_Transcript	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.	157										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTGGCCACCCGTATGAGTCTC	0.627													A	41250512	G	A	41250512	3	1	126	1	0	0	0	0	1	0	0	0	1936	1144	40	1	602	1	C19orf54	19	41250512	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	32173106	41250512	17878471	51	8530											
CEACAM5	1048	broad.mit.edu	37	19	42213611	42213611	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:42213611C>A	uc002orl.3	+	1	198	c.77C>A	c.(76-78)aCc>aAc	p.T26N	CEACAM5_uc010ehz.1_Missense_Mutation_p.T26N|CEACAM5_uc002orj.1_Missense_Mutation_p.T26N	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	26						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCACTTCTAACCTTCTGGAAC	0.537													A	42213611	C	A	42213611	3	1	126	1	0	0	0	0	1	0	0	0	3195	507	18	5	83	5	CEACAM5	19	42213611	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	963099	42213611	16915372	52	8531											
NLRP12	91662	broad.mit.edu	37	19	54312882	54312882	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:54312882G>A	uc002qcj.4	-	2	2251	c.2031C>T	c.(2029-2031)cgC>cgT	p.R677R	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.R677R|NLRP12_uc002qci.4_Silent_p.R677R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.R677R	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	677					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			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)		AGCACCTCGCGCGGTCTTCCC	0.587													A	54312882	G	A	54312882	2	1	126	1	0	0	0	0	0	0	0	1	10474	1074	38	1		1	NLRP12	19	54312882	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	12099271	54312882	4816101	53	8532											
BCAS1	8537	broad.mit.edu	37	20	52570143	52570143	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr20:52570143T>C	uc002xws.2	-	10	1846	c.1508A>G	c.(1507-1509)aAg>aGg	p.K503R	BCAS1_uc010zza.1_Missense_Mutation_p.K169R|BCAS1_uc010zzb.1_Missense_Mutation_p.K429R|BCAS1_uc010gim.2_Missense_Mutation_p.K359R|BCAS1_uc002xwt.2_Missense_Mutation_p.K489R|BCAS1_uc010gil.1_Missense_Mutation_p.K425R	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	503						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGCTGACTTCTTGTCCTTCGA	0.537													C	52570143	T	C	52570143	3	2	126	1	0	0	0	0	1	0	0	0	1350	1609	56	4	254	4	BCAS1	20	52570143	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08		52570143	10455377	54	8533											
GRPR	2925	broad.mit.edu	37	X	16142166	16142166	+	Silent	SNP	G	G	A			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:16142166G>A	uc004cxj.3	+	0	743	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	30					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ATCTCCCCGTGAACGATGACT	0.478											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	16142166	G	A	16142166	2	1	126	1	0	0	0	0	0	0	0	1	6808	1277	45	3		3	GRPR	23	16142166	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08		16142166	139128394	55	8534											
FOXR2	139628	broad.mit.edu	37	X	55650332	55650332	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:55650332G>C	uc004duo.3	+	0	500	c.188G>C	c.(187-189)aGg>aCg	p.R63T		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	63					embryo development|organ development|pattern specification process|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTCAGAAGAGGAGACCCAGT	0.537													C	55650332	G	C	55650332	3	2	126	1	0	0	0	0	1	0	0	0	6032	1000	35	5	190	5	FOXR2	23	55650332	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	39508166	55650332	99620228	56	8535											
MAGEA5	4104	broad.mit.edu	37	X	151283896	151283896	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:151283896C>T	uc004ffj.3	-	2	289	c.117G>A	c.(115-117)gtG>gtA	p.V39V	MAGEA5_uc022cgy.1_Silent_p.V39V	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	39	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGAGGACACAGCCTCCT	0.647													T	151283896	C	T	151283896	2	4	126	1	0	0	0	0	0	0	0	1	9169	465	17	3		3	MAGEA5	23	151283896	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	95633564	151283896	3986664	57	8536											
OPN1MW	2652	broad.mit.edu	37	X	153490645	153490645	+	Silent	SNP	C	C	T			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:153490645C>T	uc004fkd.3	+	1	463	c.381C>T	c.(379-381)gtC>gtT	p.V127V		NM_000513	NP_001041646	P04001	OPSG_HUMAN	Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA.	127					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTATGTGTGTCCTGGAGGGCT	0.617													T	153490645	C	T	153490645	2	4	126	1	0	0	0	0	0	0	0	1	10878	842	30	3		3	OPN1MW	23	153490645	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	2206749	153490645	1779915	58	8537											
ASPM	259266	broad.mit.edu	37	1	197071366	197071366	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:197071366T>G	uc001gtu.3	-	17	7272	c.7015A>C	c.(7015-7017)Act>Cct	p.T2339P	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.T187P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2339	IQ 22.|IQ 23.				mitosis	cytoplasm|nucleus	calmodulin binding			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						TGGATGAAAGTAGCAGCCCTG	0.408													G	197071366	T	G	197071366	3	3	127	1	0	0	0	0	1	0	0	0	1056	1638	57	5	3462	5	ASPM	1	197071366	Missense_Mutation	SNP	T	TCGA-14-0781-01B-01D-1696-08		197071366	52179255	1	8538											
RRP15	51018	broad.mit.edu	37	1	218478415	218478415	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:218478415G>A	uc001hlj.3	+	2	481	c.451G>A	c.(451-453)Gat>Aat	p.D151N		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	151						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AGTAAAGCCAGATGTTGTCCA	0.363													A	218478415	G	A	218478415	3	1	127	1	0	0	0	0	1	0	0	0	13687	942	33	3	461	3	RRP15	1	218478415	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	21407049	218478415	30772206	2	8539											
APOB	338	broad.mit.edu	37	2	21238335	21238335	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:21238335C>T	uc002red.3	-	21	3543	c.3415G>A	c.(3415-3417)Gcc>Acc	p.A1139T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1139					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACCAGTGGGCGAGGATCTCA	0.463													T	21238335	C	T	21238335	3	4	127	1	0	0	0	0	1	0	0	0	785	768	27	1	10308	1	APOB	2	21238335	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		21238335	221961038	3	8540											
SDPR	8436	broad.mit.edu	37	2	192711670	192711670	+	Translation_Start_Site	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:192711670G>A	uc002utb.3	-	0						NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.							caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGGTGGGAACGTTCTTTCTCT	0.617													A	192711670	G	A	192711670	1	1	127	1	0	0	0	0	0	0	0	0	13970	1160	40	1		1	SDPR	2	192711670	Translation_Start_Site	SNP	G	TCGA-14-0781-01B-01D-1696-08	171473335	192711670	50487703	4	8541											
ALS2CR11	151254	broad.mit.edu	37	2	202483659	202483659	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:202483659delG	uc002uyf.3	-	0	247	c.195delC	c.(193-195)aacfs	p.N65fs	ALS2CR11_uc002uye.3_Frame_Shift_Del_p.N65fs|ALS2CR11_uc010fti.3_Frame_Shift_Del_p.N65fs|ALS2CR11_uc021vvc.1_Frame_Shift_Del_p.N65fs	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	65								p.K64N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTGGTTCTTGTTCTTAGGCA	0.657													-	202483659	G	-	202483659	7	5	127	1	0	1	0	1	0	0	0	0	552	1368	48	0	5478	0	ALS2CR11	2	202483659	Frame_Shift_Del	DEL	G	TCGA-14-0781-01B-01D-1696-08	9771989	202483659	40715714	5	8542											
UNC5C	8633	broad.mit.edu	37	4	96127874	96127874	+	Missense_Mutation	SNP	G	G	A	rs139568380	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr4:96127874G>A	uc003hto.3	-	10	2160	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	UNC5C_uc010ilc.2_Missense_Mutation_p.R622C	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	603	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.R603S(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACGACTGGGCGGGTGAGCAGA	0.582													A	96127874	G	A	96127874	3	1	127	1	0	0	0	0	1	0	0	0	16990	1116	39	2	1012	2	UNC5C	4	96127874	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		96127874	95026402	6	8543											
AHRR	57491	broad.mit.edu	37	5	422882	422882	+	Silent	SNP	C	C	T	rs2671894	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:422882C>T	uc003jav.3	+	5	535	c.492C>T	c.(490-492)caC>caT	p.H164H	AHRR_uc003jaw.3_Silent_p.H164H|AHRR_uc010isy.3_Silent_p.H10H|AHRR_uc010isz.3_Silent_p.H160H|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Silent_p.H20H	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	164	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			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)			ACTACATCCACGTGGACGACC	0.547													T	422882	C	T	422882	2	4	127	1	0	0	0	0	0	0	0	1	417	535	19	1		1	AHRR	5	422882	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08		422882	180492378	7	8544											
CARD6	84674	broad.mit.edu	37	5	40853877	40853877	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:40853877delT	uc003jmg.3	+	2	2518	c.2443delT	c.(2443-2445)tttfs	p.F815fs		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	815					apoptosis|regulation of apoptosis	intracellular		p.T814K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAATGGAACATTTGGGAGACT	0.453													-	40853877	T	-	40853877	7	5	127	1	0	1	0	1	0	0	0	0	2650	1493	52	0	2453	0	CARD6	5	40853877	Frame_Shift_Del	DEL	T	TCGA-14-0781-01B-01D-1696-08	40430995	40853877	140061383	8	8545											
HCN1	348980	broad.mit.edu	37	5	45262241	45262241	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:45262241C>T	uc003jok.3	-	7	2480	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	819						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCGTCACGGGTTGAGGG	0.677													T	45262241	C	T	45262241	3	4	127	1	0	0	0	0	1	0	0	0	6996	536	19	1	221	1	HCN1	5	45262241	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	4408364	45262241	135653019	9	8546											
DMGDH	29958	broad.mit.edu	37	5	78326739	78326739	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:78326739G>T	uc003kfs.3	-	9	1606	c.1600C>A	c.(1600-1602)Cta>Ata	p.L534I	DMGDH_uc011cte.1_Missense_Mutation_p.L384I|DMGDH_uc011ctf.1_Missense_Mutation_p.L333I|DMGDH_uc011ctg.1_Missense_Mutation_p.L154I	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	534					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AATGGTGATAGGTCAGTTACC	0.433													T	78326739	G	T	78326739	3	4	127	1	0	0	0	0	1	0	0	0	4581	991	35	5	1028	5	DMGDH	5	78326739	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	33064498	78326739	102588521	10	8547											
GCNT2	2651	broad.mit.edu	37	6	10529185	10529186	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:10529185_10529186delTT	uc010joo.3	+	2	592_593	c.41_42delTT	c.(40-42)cttfs	p.L14fs	GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Frame_Shift_Del_p.L13fs	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.	14						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGCGCGTCTCTTATCTCTGCCC	0.401													-	10529186	TT	-	10529185	7	5	127	1	0	1	0	1	0	0	0	0	6301	1609	56	0	43	0	GCNT2	6	10529185	Frame_Shift_Del	DEL	TT	TCGA-14-0781-01B-01D-1696-08		10529185	160585882	11	8548											
LAMA2	3908	broad.mit.edu	37	6	129823804	129823804	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:129823804G>A	uc021zfb.1	+	59	8350	c.8245_splice	c.e59-1	p.G2749_splice	LAMA2_uc003qbn.3_Splice_Site_p.G2747_splice|LAMA2_uc003qbo.3_Splice_Site_p.G2743_splice|BC035400_uc003qbq.3_Non-coding_Transcript	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2749					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATTTTACAGGGTCCTTGTGC	0.388													A	129823804	G	A	129823804	3	1	127	1	0	0	0	0	1	0	0	0	8606	1246	43	3	8479	3	LAMA2	6	129823804	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	119294619	129823804	41291263	12	8549											
PHACTR2	9749	broad.mit.edu	37	6	144086812	144086812	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:144086812T>C	uc010khi.3	+	5	1308	c.1109T>C	c.(1108-1110)gTt>gCt	p.V370A	PHACTR2_uc003qjq.4_Missense_Mutation_p.V359A|PHACTR2_uc010khh.3_Missense_Mutation_p.V279A|PHACTR2_uc003qjr.4_Missense_Mutation_p.V290A	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	359							actin binding|protein phosphatase inhibitor activity	p.I369I(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTCGTCAGCGTTGGAGCTGAC	0.582													C	144086812	T	C	144086812	3	2	127	1	0	0	0	0	1	0	0	0	11810	1725	60	4	1148	4	PHACTR2	6	144086812	Missense_Mutation	SNP	T	TCGA-14-0781-01B-01D-1696-08	14263008	144086812	27028255	13	8550											
SERAC1	84947	broad.mit.edu	37	6	158579375	158579375	+	Silent	SNP	G	G	A	rs139301835	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:158579375G>A	uc003qrc.2	-	1	163	c.21C>T	c.(19-21)tgC>tgT	p.C7C	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	7					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AACAGATGACGCAATAAGCAG	0.363													A	158579375	G	A	158579375	2	1	127	1	0	0	0	0	0	0	0	1	14074	1079	38	1		1	SERAC1	6	158579375	Silent	SNP	G	TCGA-14-0781-01B-01D-1696-08	14492563	158579375	12535692	14	8551											
PCLO	27445	broad.mit.edu	37	7	82579939	82579939	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:82579939G>T	uc003uhx.2	-	5	10254	c.9965C>A	c.(9964-9966)cCt>cAt	p.P3322H	PCLO_uc003uhv.2_Missense_Mutation_p.P3322H|PCLO_uc010lec.3_Missense_Mutation_p.P287H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3253					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						AGTTCCAGAAGGGTCATAGTT	0.478													T	82579939	G	T	82579939	3	4	127	1	0	0	0	0	1	0	0	0	11583	1000	35	5	5560	5	PCLO	7	82579939	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		82579939	76558724	15	8552											
EPHB4	2050	broad.mit.edu	37	7	100411279	100411279	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:100411279C>T	uc003uwn.1	-	9	2242	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	EPHB4_uc003uwm.1_Missense_Mutation_p.G491E|EPHB4_uc010lhj.1_Missense_Mutation_p.G584E	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	584					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.I583I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCACCATGTCCGATGAGATA	0.522													T	100411279	C	T	100411279	3	4	127	1	0	0	0	0	1	0	0	0	5177	855	30	3	1244	3	EPHB4	7	100411279	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	17831340	100411279	58727384	16	8553											
CADPS2	93664	broad.mit.edu	37	7	121960313	121960313	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:121960313C>T	uc022akp.1	-	28	4219	c.3797G>A	c.(3796-3798)cGt>cAt	p.R1266H	CADPS2_uc003vkg.4_Missense_Mutation_p.R920H|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.R1225H|CADPS2_uc022akr.1_Missense_Mutation_p.R1266H	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1266					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTGTTAAACGTCTGTGCAC	0.433													T	121960313	C	T	121960313	3	4	127	1	0	0	0	0	1	0	0	0	2571	536	19	1	97	1	CADPS2	7	121960313	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	21549034	121960313	37178350	17	8554											
FREM1	158326	broad.mit.edu	37	9	14824887	14824887	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr9:14824887G>C	uc003zlm.3	-	11	2801	c.1985C>G	c.(1984-1986)aCt>aGt	p.T662S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	662					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGTTTCTTAGTTATATAGGC	0.428													C	14824887	G	C	14824887	3	2	127	1	0	0	0	0	1	0	0	0	6044	1029	36	5	4712	5	FREM1	9	14824887	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		14824887	126388544	18	8555											
CRB2	286204	broad.mit.edu	37	9	126136965	126136965	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr9:126136965C>T	uc004bnx.1	+	10	3589	c.3497C>T	c.(3496-3498)gCt>gTt	p.A1166V		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	1166	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GAGGGTCTTGCTGGCCAGAGG	0.657													T	126136965	C	T	126136965	3	4	127	1	0	0	0	0	1	0	0	0	3849	797	28	3	3539	3	CRB2	9	126136965	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	111312078	126136965	15076466	19	8556											
PTEN	5728	broad.mit.edu	37	10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr10:89711891G>A	uc001kfb.3	+	5	1541	c.509G>A	c.(508-510)aGt>aAt	p.S170N	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	170	Phosphatase tensin-type.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S170N(12)|p.S170I(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170_Q171del(1)|p.G165_K342del(1)|p.S170G(1)|p.S170fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89711891	G	A	89711891	3	1	127	1	0	0	0	0	1	0	0	0	12738	1029	36	3	531	3	PTEN	10	89711891	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		89711891	45822856	20	8557											
SLC22A10	387775	broad.mit.edu	37	11	63069908	63069908	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:63069908G>A	uc009yor.3	+	6	1386	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	393						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCATAGTTCGATGTCTTGCT	0.438													A	63069908	G	A	63069908	3	1	127	1	0	0	0	0	1	0	0	0	14441	1058	37	2	1204	2	SLC22A10	11	63069908	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		63069908	71936608	21	8558											
NAALADL1	10004	broad.mit.edu	37	11	64821985	64821985	+	Missense_Mutation	SNP	C	C	T	rs138766443		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:64821985C>T	uc001ocn.3	-	4	845	c.829G>A	c.(829-831)Gga>Aga	p.G277R	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	277	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGGGGAAATCCGGAGACATTG	0.597													T	64821985	C	T	64821985	3	4	127	1	0	0	0	0	1	0	0	0	10129	661	23	2	1449	2	NAALADL1	11	64821985	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	1752077	64821985	70184531	22	8559											
UNC93B1	81622	broad.mit.edu	37	11	67765220	67765220	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:67765220C>T	uc001omw.1	-	6	911	c.831G>A	c.(829-831)cgG>cgA	p.R277R		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	277					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											GCGGGAGCGTCCGCAGAACCG	0.652													T	67765220	C	T	67765220	2	4	127	1	0	0	0	0	0	0	0	1	16994	842	30	3		3	UNC93B1	11	67765220	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08	2943235	67765220	67241296	23	8560											
MMP10	4319	broad.mit.edu	37	11	102646042	102646042	+	Nonsense_Mutation	SNP	G	G	A	rs150825082	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:102646042G>A	uc001phg.2	-	6	980	c.943C>T	c.(943-945)Cga>Tga	p.R315*		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	315	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			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)		TGGGATCTTCGCCAAAAATAT	0.333													A	102646042	G	A	102646042	4	1	127	1	0	0	0	0	0	1	0	0	9649	1095	38	1	503	1	MMP10	11	102646042	Nonsense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	34880822	102646042	32360474	24	8561											
KCNA1	3736	broad.mit.edu	37	12	5020794	5020794	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr12:5020794C>T	uc001qnh.3	+	1	1355	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	KCNA1_uc021qts.1_Missense_Mutation_p.R84C	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	84					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCTTCGACCGCAACCGGCC	0.627													T	5020794	C	T	5020794	3	4	127	1	0	0	0	0	1	0	0	0	8001	652	23	2	252	2	KCNA1	12	5020794	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		5020794	128831101	25	8562											
C12orf63	374467	broad.mit.edu	37	12	97085019	97085019	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr12:97085019C>T	uc021rcc.1	+	10	1548	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	490										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACAGGGCTGACATTTGCTCTG	0.358													T	97085019	C	T	97085019	2	4	127	1	0	0	0	0	0	0	0	1	1706	477	17	3		3	C12orf63	12	97085019	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08	92064225	97085019	36766876	26	8563											
PCDH20	64881	broad.mit.edu	37	13	61986212	61986212	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr13:61986212C>G	uc001vid.4	-	1	2384	c.2020G>C	c.(2020-2022)Gtc>Ctc	p.V674L	PCDH20_uc010thj.2_Missense_Mutation_p.V674L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	647	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGGGCGACCCATCCATTT	0.458													G	61986212	C	G	61986212	3	3	127	1	0	0	0	0	1	0	0	0	11515	507	18	5	839	5	PCDH20	13	61986212	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		61986212	53183666	27	8564											
LRFN5	145581	broad.mit.edu	37	14	42355895	42355895	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr14:42355895C>T	uc001wvm.3	+	2	1265	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	LRFN5_uc010ana.3_Missense_Mutation_p.R23C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	23	LRRNT.					integral to membrane		p.R23H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTCCAAAGCGTTGTGTCTG	0.398										HNSCC(30;0.082)			T	42355895	C	T	42355895	3	4	127	1	0	0	0	0	1	0	0	0	8941	768	27	1	69	1	LRFN5	14	42355895	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		42355895	64993645	28	8565											
GPR65	8477	broad.mit.edu	37	14	88478097	88478097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr14:88478097G>A	uc021rxh.1	+	0	906	c.906G>A	c.(904-906)tgG>tgA	p.W302*	GPR65_uc001xvv.3_Nonsense_Mutation_p.W302*	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	302					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ATGATATGTGGAATATATTAA	0.343													A	88478097	G	A	88478097	4	1	127	1	0	0	0	0	0	1	0	0	6706	1183	41	3	908	3	GPR65	14	88478097	Nonsense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	46122202	88478097	18871443	29	8566											
IGF1R	3480	broad.mit.edu	37	15	99454571	99454571	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr15:99454571C>G	uc002bul.3	+	6	1540	c.1490C>G	c.(1489-1491)tCc>tGc	p.S497C	IGF1R_uc010urq.2_Missense_Mutation_p.S497C|IGF1R_uc010bon.3_Missense_Mutation_p.S497C|IGF1R_uc010urr.1_5'UTR	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	497	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CATTTCACCTCCACCACCACG	0.522													G	99454571	C	G	99454571	3	3	127	1	0	0	0	0	1	0	0	0	7571	855	30	5	1516	5	IGF1R	15	99454571	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		99454571	3076821	30	8567											
LRRK1	79705	broad.mit.edu	37	15	101595206	101595206	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr15:101595206C>T	uc002bwr.3	+	26	4429	c.4110C>T	c.(4108-4110)atC>atT	p.I1370I	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1370	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTACCAGATCGCCTCGGGCC	0.438													T	101595206	C	T	101595206	2	4	127	1	0	0	0	0	0	0	0	1	9032	874	31	2		2	LRRK1	15	101595206	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08	2140635	101595206	936186	31	8568											
CHST5	23563	broad.mit.edu	37	16	75564022	75564022	+	Silent	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr16:75564022G>A	uc002fej.1	-	4	600	c.279C>T	c.(277-279)gaC>gaT	p.D93D	CHST5_uc002fei.3_Silent_p.D87D|CHST5_uc021tlk.1_Silent_p.D87D	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	87					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGTAGAAGACGTCGGGGTGCT	0.672													A	75564022	G	A	75564022	2	1	127	1	0	0	0	0	0	0	0	1	3407	1136	40	1		1	CHST5	16	75564022	Silent	SNP	G	TCGA-14-0781-01B-01D-1696-08		75564022	14790731	32	8569											
MED13	9969	broad.mit.edu	37	17	60107352	60107352	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr17:60107352C>G	uc002izo.3	-	6	1109	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	MED13_uc002izp.3_5'UTR	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	344					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTGACCCACTTCTGGACAG	0.363													G	60107352	C	G	60107352	3	3	127	1	0	0	0	0	1	0	0	0	9430	564	20	5	5588	5	MED13	17	60107352	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		60107352	21087858	33	8570											
LAMA1	284217	broad.mit.edu	37	18	7011417	7011417	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr18:7011417G>A	uc002knm.3	-	24	3663	c.3569C>T	c.(3568-3570)aCg>aTg	p.T1190M	LAMA1_uc010wzj.2_Missense_Mutation_p.T666M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1190	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCTCGGTCGTGCCCCTCAA	0.597													A	7011417	G	A	7011417	3	1	127	1	0	0	0	0	1	0	0	0	8605	1145	40	1	5814	1	LAMA1	18	7011417	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		7011417	71065831	34	8571											
MUC16	94025	broad.mit.edu	37	19	9088981	9088981	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr19:9088981G>A	uc002mkp.3	-	0	3038	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	945	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						CATTGTTGCCGTCCCAGTGAG	0.478													A	9088981	G	A	9088981	3	1	127	1	0	0	0	0	1	0	0	0	9973	1145	40	1	41025	1	MUC16	19	9088981	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		9088981	50040002	35	8572											
FCGBP	8857	broad.mit.edu	37	19	40376645	40376645	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr19:40376645T>G	uc002omp.4	-	23	11785	c.11777A>C	c.(11776-11778)aAt>aCt	p.N3926T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3926						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAAAGTTTCATTCCTCCAGGG	0.627													G	40376645	T	G	40376645	3	3	127	1	0	0	0	0	1	0	0	0	5778	1493	52	5	4492	5	FCGBP	19	40376645	Missense_Mutation	SNP	T	TCGA-14-0781-01B-01D-1696-08	31287664	40376645	18752338	36	8573											
PFKL	5211	broad.mit.edu	37	21	45732952	45732952	+	Silent	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr21:45732952C>T	uc002zek.3	+	7	1061	c.660C>T	c.(658-660)gaC>gaT	p.D220D	PFKL_uc002zel.3_Silent_p.D173D|PFKL_uc011afd.1_Silent_p.D220D			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	173					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.T219A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCGGCACCGACATGACCATCG	0.632													T	45732952	C	T	45732952	2	4	127	1	0	0	0	0	0	0	0	1	11764	477	17	3		3	PFKL	21	45732952	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08		45732952	2396943	37	8574											
PARVB	29780	broad.mit.edu	37	22	44536022	44536022	+	Silent	SNP	C	C	T	rs149571024		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr22:44536022C>T	uc003bem.3	+	9	941	c.811_splice	c.e9+1	p.E271_splice	PARVB_uc003ben.3_Splice_Site_p.E238_splice|PARVB_uc010gzn.3_Splice_Site_p.E186_splice|PARVB_uc003beo.3_Splice_Site_p.E201_splice	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	238	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGGGCCGGTTCGGTAAGTAAC	0.532													T	44536022	C	T	44536022	2	4	127	1	0	0	0	0	0	0	0	1	11469	898	31	2		2	PARVB	22	44536022	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08		44536022	6768544	38	8575											
GATA1	2623	broad.mit.edu	37	X	48650419	48650419	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chrX:48650419C>A	uc004dkq.4	+	2	480	c.389C>A	c.(388-390)aCc>aAc	p.T130N		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	130					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)|p.S129R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AAAGGCAGCACCAGCTTCCTG	0.602			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								A	48650419	C	A	48650419	3	1	127	1	0	0	0	0	1	0	0	0	6253	507	18	5	395	5	GATA1	23	48650419	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		48650419	106620141	39	8576											
ACTRT1	139741	broad.mit.edu	37	X	127185485	127185485	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chrX:127185485C>T	uc004eum.3	-	0	898	c.701G>A	c.(700-702)cGg>cAg	p.R234Q		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	234						cytoplasm|cytoskeleton		p.S233I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GACCTCTCCCCGGCTCTTGCG	0.507													T	127185485	C	T	127185485	3	4	127	1	0	0	0	0	1	0	0	0	218	652	23	2	433	2	ACTRT1	23	127185485	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	78535066	127185485	28085075	40	8577											
OMA1	115209	broad.mit.edu	37	1	58946683	58946683	+	Missense_Mutation	SNP	T	T	C	rs71730803		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:58946683T>C	uc001cyy.3	-	8	1617	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Intron	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	510					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TGGTATTTGCTCCTGTTTTTG	0.328													C	58946683	T	C	58946683	3	2	128	1	0	0	0	0	1	0	0	0	10864	1551	54	4	49	4	OMA1	1	58946683	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08		58946683	190303938	1	8578											
GJA8	2703	broad.mit.edu	37	1	147380346	147380346	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:147380346G>A	uc021ovm.1	+	0	264	c.264G>A	c.(262-264)ccG>ccA	p.P88P	GJA8_uc001epu.2_Silent_p.P88P	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	88			P -> S (in CZP1).		cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			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)					TCTCCACCCCGTCCCTGATGT	0.642													A	147380346	G	A	147380346	2	1	128	1	0	0	0	0	0	0	0	1	6405	1132	40	1		1	GJA8	1	147380346	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	88433663	147380346	101870275	2	8579											
LAMB3	3914	broad.mit.edu	37	1	209803992	209803992	+	Missense_Mutation	SNP	G	G	A	rs114394307	by1000genomes	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:209803992G>A	uc001hhg.3	-	7	1301	c.911C>T	c.(910-912)cCg>cTg	p.P304L	LAMB3_uc009xco.3_Missense_Mutation_p.P304L|LAMB3_uc001hhh.3_Missense_Mutation_p.P304L|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.P240L	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	304	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCCCTCCGCCGGTCTCCAGGG	0.622													A	209803992	G	A	209803992	3	1	128	1	0	0	0	0	1	0	0	0	8612	1116	39	2	2667	2	LAMB3	1	209803992	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	62423646	209803992	39446629	3	8580											
RYR2	6262	broad.mit.edu	37	1	237774131	237774131	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:237774131C>T	uc001hyl.1	+	35	4873	c.4753C>T	c.(4753-4755)Cgc>Tgc	p.R1585C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1585	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			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)			GTGCCCCCCGCGCCTCCACGT	0.537													T	237774131	C	T	237774131	3	4	128	1	0	0	0	0	1	0	0	0	13769	768	27	1	4895	1	RYR2	1	237774131	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	27970139	237774131	11476490	4	8581											
CAD	790	broad.mit.edu	37	2	27465785	27465785	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:27465785C>A	uc002rji.3	+	41	6586	c.6424C>A	c.(6424-6426)Ctc>Atc	p.L2142I	CAD_uc010eyw.3_Missense_Mutation_p.L2079I	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2142	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CACTGATGTGCTCTACATGAC	0.582													A	27465785	C	A	27465785	3	1	128	1	0	0	0	0	1	0	0	0	2565	797	28	5	6590	5	CAD	2	27465785	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		27465785	215733588	5	8582											
PRKD3	23683	broad.mit.edu	37	2	37501816	37501816	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:37501816G>C	uc002rqd.3	-	9	1954	c.1399C>G	c.(1399-1401)Cgc>Ggc	p.R467G	PRKD3_uc002rqe.1_Missense_Mutation_p.R67G|PRKD3_uc002rqf.1_Missense_Mutation_p.R467G	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	467	PH.				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			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)				GAAGATATGCGGAGAATTTCT	0.318													C	37501816	G	C	37501816	3	2	128	1	0	0	0	0	1	0	0	0	12520	1116	39	5	1309	5	PRKD3	2	37501816	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	10036031	37501816	205697557	6	8583											
ST6GAL2	84620	broad.mit.edu	37	2	107460204	107460204	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:107460204C>T	uc002tdq.3	-	1	349	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R77H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R77H	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	77					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGCGCCTGGCGTGCGTCCAG	0.677													T	107460204	C	T	107460204	3	4	128	1	0	0	0	0	1	0	0	0	15221	768	27	1	1466	1	ST6GAL2	2	107460204	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	69958388	107460204	135739169	7	8584											
PPIG	9360	broad.mit.edu	37	2	170493100	170493100	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:170493100A>C	uc002uez.3	+	13	1552	c.1332A>C	c.(1330-1332)aaA>aaC	p.K444N	PPIG_uc010fpx.3_Missense_Mutation_p.K429N|PPIG_uc010fpy.3_Missense_Mutation_p.K437N|PPIG_uc002ufb.3_Missense_Mutation_p.K444N|PPIG_uc002ufd.3_Missense_Mutation_p.K441N	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	444					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATTCAGAAAAAGATGACAAGT	0.313													C	170493100	A	C	170493100	3	2	128	1	0	0	0	0	1	0	0	0	12324	69	3	5	1378	5	PPIG	2	170493100	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	63032896	170493100	72706273	8	8585											
C3orf20	84077	broad.mit.edu	37	3	14802983	14802983	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:14802983T>A	uc003byy.3	+	14	2808	c.2356T>A	c.(2356-2358)Ttt>Att	p.F786I	C3orf20_uc003byz.3_Missense_Mutation_p.F664I|C3orf20_uc003bza.3_Missense_Mutation_p.F664I|C3orf20_uc003bzb.1_Missense_Mutation_p.F287I|C3orf20_uc011avj.2_Missense_Mutation_p.F113I	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	786						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCAACAGATGTTTGCCGGGGG	0.483													A	14802983	T	A	14802983	3	1	128	1	0	0	0	0	1	0	0	0	2213	1725	60	5	2406	5	C3orf20	3	14802983	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08		14802983	183219447	9	8586											
NR2C2	7182	broad.mit.edu	37	3	15079601	15079601	+	Silent	SNP	C	C	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:15079601C>G	uc003bzj.4	+	11	1684	c.1467C>G	c.(1465-1467)ggC>ggG	p.G489G	NR2C2_uc003bzi.3_Silent_p.G508G	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	489	Ligand-binding (By similarity).				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATATAGATGGCTATGAGTATG	0.453													G	15079601	C	G	15079601	2	3	128	1	0	0	0	0	0	0	0	1	10623	784	28	5		5	NR2C2	3	15079601	Silent	SNP	C	TCGA-14-0786-01B-01D-1492-08	276618	15079601	182942829	10	8587											
HSPBAP1	79663	broad.mit.edu	37	3	122459942	122459942	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:122459942G>A	uc003efu.2	-	6	983	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	HSPBAP1_uc003eft.2_5'UTR	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	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)		TCTTCTACCCGGGCTAGGTGA	0.423													A	122459942	G	A	122459942	3	1	128	1	0	0	0	0	1	0	0	0	7425	1115	39	2	630	2	HSPBAP1	3	122459942	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	107380341	122459942	75562488	11	8588											
SLIT2	9353	broad.mit.edu	37	4	20541195	20541195	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:20541195C>A	uc003gpr.1	+	18	2168	c.1964C>A	c.(1963-1965)tCt>tAt	p.S655Y	SLIT2_uc003gps.1_Missense_Mutation_p.S647Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	655					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTCTCCATTCTTTATCTACT	0.308													A	20541195	C	A	20541195	3	1	128	1	0	0	0	0	1	0	0	0	14740	913	32	5	2038	5	SLIT2	4	20541195	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		20541195	170613081	12	8589											
BANK1	55024	broad.mit.edu	37	4	102946614	102946614	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:102946614G>A	uc003hvy.4	+	8	1816	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P	BANK1_uc003hvx.4_Silent_p.P499P|BANK1_uc010ill.3_Silent_p.P381P|BANK1_uc003hvz.4_Silent_p.P484P	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	514					B cell activation			p.P514L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCCCCCCGCCGCGACCTGTAG	0.433													A	102946614	G	A	102946614	2	1	128	1	0	0	0	0	0	0	0	1	1309	1074	38	1		1	BANK1	4	102946614	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	82405419	102946614	88207662	13	8590											
ALPK1	80216	broad.mit.edu	37	4	113353098	113353098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:113353098delC	uc003ian.4	+	10	2622	c.2395delC	c.(2395-2397)cccfs	p.P799fs	ALPK1_uc003iap.4_Frame_Shift_Del_p.P799fs|ALPK1_uc011cfx.2_Frame_Shift_Del_p.P721fs|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Frame_Shift_Del_p.P627fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	799							ATP binding|protein serine/threonine kinase activity			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)		TGAAGATGCACCCTTAGACTT	0.488													-	113353098	C	-	113353098	7	5	128	1	0	1	0	1	0	0	0	0	544	507	18	0	2429	0	ALPK1	4	113353098	Frame_Shift_Del	DEL	C	TCGA-14-0786-01B-01D-1492-08	10406484	113353098	77801178	14	8591											
FHDC1	85462	broad.mit.edu	37	4	153897835	153897835	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:153897835G>A	uc003inf.2	+	10	3467	c.3392G>A	c.(3391-3393)cGg>cAg	p.R1131Q		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	1131					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GACTCCAGTCGGACCACGCTG	0.637													A	153897835	G	A	153897835	3	1	128	1	0	0	0	0	1	0	0	0	5876	1116	39	2	3434	2	FHDC1	4	153897835	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	40544737	153897835	37256441	15	8592											
POU4F3	5459	broad.mit.edu	37	5	145719603	145719603	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr5:145719603C>A	uc003loa.2	+	1	702	c.613C>A	c.(613-615)Cag>Aag	p.Q205K		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.	205	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q205H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGGTGACCCAGGCGGACGT	0.657													A	145719603	C	A	145719603	3	1	128	1	0	0	0	0	1	0	0	0	12280	595	21	5	619	5	POU4F3	5	145719603	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		145719603	35195657	16	8593											
HIST1H2AA	221613	broad.mit.edu	37	6	25726720	25726720	+	Silent	SNP	G	G	A	rs150563946	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:25726720G>A	uc003nfc.3	-	0	71	c.36C>T	c.(34-36)cgC>cgT	p.R12R	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	12					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R12P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TAGACTTGGCGCGTGCTTTTC	0.532													A	25726720	G	A	25726720	2	1	128	1	0	0	0	0	0	0	0	1	7128	1074	38	1		1	HIST1H2AA	6	25726720	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08		25726720	145388347	17	8594											
BTN3A3	10384	broad.mit.edu	37	6	26452287	26452287	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:26452287A>G	uc003nhz.3	+	10	1646	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G	BTN3A3_uc011dkn.2_Missense_Mutation_p.E419G|BTN3A3_uc021ynh.1_Missense_Mutation_p.E258G	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	468	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTGGACTATGAGACTGGAGAG	0.483													G	26452287	A	G	26452287	3	3	128	1	0	0	0	0	1	0	0	0	1564	304	11	4	1437	4	BTN3A3	6	26452287	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	725567	26452287	144662780	18	8595											
EEF1A1	1915	broad.mit.edu	37	6	74229196	74229196	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:74229196A>C	uc003phi.3	-	1	1180	c.188T>G	c.(187-189)cTg>cGg	p.L63R	EEF1A1_uc003phj.3_Missense_Mutation_p.L63R|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.L63R|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	63						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CTCAGCTTTCAGTTTATCCAA	0.428											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	74229196	A	C	74229196	3	2	128	1	0	0	0	0	1	0	0	0	4923	188	7	5	1224	5	EEF1A1	6	74229196	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	47776909	74229196	96885871	19	8596											
IQCE	23288	broad.mit.edu	37	7	2611279	2611279	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:2611279G>A	uc003sml.1	+	3	434	c.250G>A	c.(250-252)Gca>Aca	p.A84T	IQCE_uc010ksm.1_Missense_Mutation_p.A84T|IQCE_uc011jvy.1_Missense_Mutation_p.A68T|IQCE_uc011jvz.1_Missense_Mutation_p.A19T|IQCE_uc003smo.4_Missense_Mutation_p.A84T|IQCE_uc003smk.4_Missense_Mutation_p.A68T|IQCE_uc003smn.4_Missense_Mutation_p.A19T	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	84										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		GCTGGGAACCGCAAAGCCAGG	0.572													A	2611279	G	A	2611279	3	1	128	1	0	0	0	0	1	0	0	0	7806	1087	38	1	264	1	IQCE	7	2611279	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		2611279	156527384	20	8597											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	128	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	52610543	55221822	103916841	21	8598											
HBP1	26959	broad.mit.edu	37	7	106829793	106829793	+	Silent	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:106829793C>T	uc003vdy.3	+	6	1008	c.822C>T	c.(820-822)ggC>ggT	p.G274G	HBP1_uc011klv.2_Silent_p.G284G|HBP1_uc003vdz.3_Silent_p.G274G|HBP1_uc003vea.3_Silent_p.G274G|HBP1_uc003veb.1_Silent_p.G274G	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	274	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TATCATTTGGCGAGTCTGTAC	0.368													T	106829793	C	T	106829793	2	4	128	1	0	0	0	0	0	0	0	1	6985	755	27	1		1	HBP1	7	106829793	Silent	SNP	C	TCGA-14-0786-01B-01D-1492-08	51607971	106829793	52308870	22	8599											
SLC30A8	169026	broad.mit.edu	37	8	118170045	118170045	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr8:118170045G>A	uc003yoh.3	+	3	764	c.534G>A	c.(532-534)atG>atA	p.M178I	SLC30A8_uc010mcz.3_Missense_Mutation_p.M129I|SLC30A8_uc003yog.3_Missense_Mutation_p.M129I|SLC30A8_uc011lia.2_Missense_Mutation_p.M129I|SLC30A8_uc022bab.1_Missense_Mutation_p.M129I	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	178					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CGACTGTGATGATCATCGTTT	0.547													A	118170045	G	A	118170045	3	1	128	1	0	0	0	0	1	0	0	0	14561	1290	45	3	548	3	SLC30A8	8	118170045	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		118170045	28193977	23	8600											
ABO	28	broad.mit.edu	37	9	136136731	136136731	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr9:136136731G>A	uc004cda.1	-	2	170	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	49					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CAGAACCCCCGTTCCAGGCTT	0.607													A	136136731	G	A	136136731	3	1	128	1	0	0	0	0	1	0	0	0	97	1144	40	1	938	1	ABO	9	136136731	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		136136731	5076700	24	8601											
ITIH5	80760	broad.mit.edu	37	10	7679260	7679260	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr10:7679260C>T	uc021pmv.1	-	4	689	c.583G>A	c.(583-585)Gcg>Acg	p.A195T	ITIH5_uc001ijr.2_Missense_Mutation_p.A195T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	195					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A195V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCGATGCCCGCGCTCTCCAGG	0.662													T	7679260	C	T	7679260	3	4	128	1	0	0	0	0	1	0	0	0	7907	768	27	1	2422	1	ITIH5	10	7679260	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		7679260	127855487	25	8602											
C10orf54	64115	broad.mit.edu	37	10	73521395	73521395	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr10:73521395C>G	uc001jsd.3	-	1	612	c.471G>C	c.(469-471)gaG>gaC	p.E157D	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.E25D	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	157	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGACCCTGTGCTCCGAGTGGT	0.617													G	73521395	C	G	73521395	3	3	128	1	0	0	0	0	1	0	0	0	1607	796	28	5	488	5	C10orf54	10	73521395	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	65842135	73521395	62013352	26	8603											
KCNQ1	3784	broad.mit.edu	37	11	2592573	2592573	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:2592573C>T	uc001lwn.3	+	3	731	c.623C>T	c.(622-624)gCc>gTc	p.A208V	KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Missense_Mutation_p.A81V	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	208					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GTGGTCGTGGCCTCCATGGTG	0.652													T	2592573	C	T	2592573	3	4	128	1	0	0	0	0	1	0	0	0	8082	739	26	3	646	3	KCNQ1	11	2592573	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		2592573	132413943	27	8604											
LDHAL6A	160287	broad.mit.edu	37	11	18487327	18487327	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:18487327C>G	uc001mop.1	+	3	649	c.388C>G	c.(388-390)Cac>Gac	p.H130D	LDHAL6A_uc001moq.2_Missense_Mutation_p.H130D	NM_001144071	NP_659409	Q6ZMR3	LDH6A_HUMAN	Homo sapiens lactate dehydrogenase A-like 6A (LDHAL6A), transcript variant 2, mRNA.	130					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	GTACAGTCCTCACTGCAAACT	0.383													G	18487327	C	G	18487327	3	3	128	1	0	0	0	0	1	0	0	0	8699	826	29	5	398	5	LDHAL6A	11	18487327	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	15894754	18487327	116519189	28	8605											
ANO5	203859	broad.mit.edu	37	11	22215065	22215065	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:22215065G>A	uc001mqi.2	+	0	344	c.27G>A	c.(25-27)gtG>gtA	p.V9V	ANO5_uc001mqj.2_Silent_p.V9V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	9						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGGAAGTGTTGGCGGAGG	0.667													A	22215065	G	A	22215065	2	1	128	1	0	0	0	0	0	0	0	1	700	1364	48	3		3	ANO5	11	22215065	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	3727738	22215065	112791451	29	8606											
CKAP5	9793	broad.mit.edu	37	11	46801800	46801800	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:46801800A>G	uc001ndi.2	-	19	2503	c.2377T>C	c.(2377-2379)Ttc>Ctc	p.F793L	CKAP5_uc009ylg.1_Missense_Mutation_p.F679L|CKAP5_uc001ndj.2_Missense_Mutation_p.F793L|Metazoa_SRP_uc021qiq.1_5'Flank	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	793					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCCTCAAAGAACATTCGCAAA	0.428													G	46801800	A	G	46801800	3	3	128	1	0	0	0	0	1	0	0	0	3445	43	2	4	3821	4	CKAP5	11	46801800	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	24586735	46801800	88204716	30	8607											
OR4C3	256144	broad.mit.edu	37	11	48346804	48346804	+	Silent	SNP	T	T	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:48346804T>C	uc010rhv.2	+	0	312	c.312T>C	c.(310-312)ccT>ccC	p.P104P		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTATGGCTCCTAAACTCATTG	0.463													C	48346804	T	C	48346804	2	2	128	1	0	0	0	0	0	0	0	1	11050	1509	53	4		4	OR4C3	11	48346804	Silent	SNP	T	TCGA-14-0786-01B-01D-1492-08	1545004	48346804	86659712	31	8608											
OR10V1	390201	broad.mit.edu	37	11	59480721	59480721	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:59480721G>A	uc001nof.1	-	0	598	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						ATGATATACAGAGCAGTCTTG	0.498													A	59480721	G	A	59480721	2	1	128	1	0	0	0	0	0	0	0	1	10920	933	33	3		3	OR10V1	11	59480721	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	11133917	59480721	75525795	32	8609											
USP15	9958	broad.mit.edu	37	12	62777954	62777954	+	Silent	SNP	T	T	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr12:62777954T>C	uc001src.2	+	10	1419	c.1344T>C	c.(1342-1344)tgT>tgC	p.C448C	USP15_uc001srb.2_Silent_p.C419C	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	448					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L447L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTTTAGTTTGTCCTGAGTGTG	0.358													C	62777954	T	C	62777954	2	2	128	1	0	0	0	0	0	0	0	1	17043	1673	58	4		4	USP15	12	62777954	Silent	SNP	T	TCGA-14-0786-01B-01D-1492-08		62777954	71073941	33	8610											
ADAM21	8747	broad.mit.edu	37	14	70926319	70926319	+	Silent	SNP	C	C	T	rs142273524	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr14:70926319C>T	uc021rvq.1	+	0	2103	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	ADAM21_uc001xmd.3_Silent_p.V701V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	701					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTTACTGTCGGGCTTCTTA	0.413													T	70926319	C	T	70926319	2	4	128	1	0	0	0	0	0	0	0	1	243	871	31	2		2	ADAM21	14	70926319	Silent	SNP	C	TCGA-14-0786-01B-01D-1492-08		70926319	36423221	34	8611											
ZDHHC1	29800	broad.mit.edu	37	16	67429021	67429021	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr16:67429021A>T	uc010vjm.2	-	9	1418	c.1114T>A	c.(1114-1116)Tcg>Acg	p.S372T	TPPP3_uc002etb.3_5'Flank|TPPP3_uc002eta.3_5'Flank	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	372						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		AGCAGAGGCGAGCGCCAGGGT	0.622													T	67429021	A	T	67429021	3	4	128	1	0	0	0	0	1	0	0	0	17597	304	11	5	351	5	ZDHHC1	16	67429021	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08		67429021	22925732	35	8612											
KRTAP3-3	85293	broad.mit.edu	37	17	39150169	39150169	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr17:39150169A>G	uc002hvr.1	-	0	217	c.181T>C	c.(181-183)Tgc>Cgc	p.C61R		NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN	Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.	61						keratin filament	structural molecule activity	p.C61C(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				GTGGGCACGCAGGGCTGAGGA	0.627													G	39150169	A	G	39150169	3	3	128	1	0	0	0	0	1	0	0	0	8547	188	7	4	119	4	KRTAP3-3	17	39150169	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08		39150169	42045041	36	8613											
ARHGAP28	79822	broad.mit.edu	37	18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr18:6859874C>T	uc002knc.3	+	4	3759	c.548C>T	c.(547-549)gCg>gTg	p.A183V	ARHGAP28_uc002kne.3_Missense_Mutation_p.A76V|ARHGAP28_uc010wzi.2_Missense_Mutation_p.A58V|ARHGAP28_uc002knf.3_Missense_Mutation_p.A67V	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	58					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433													T	6859874	C	T	6859874	3	4	128	1	0	0	0	0	1	0	0	0	877	768	27	1	237	1	ARHGAP28	18	6859874	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		6859874	71217374	37	8614											
ABCA7	10347	broad.mit.edu	37	19	1042173	1042173	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:1042173C>T	uc002lqw.4	+	4	644	c.413C>T	c.(412-414)aCg>aTg	p.T138M	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Missense_Mutation_p.T138M	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	138					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			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)		GCACGCAGCACGGGTGAGGAG	0.692													T	1042173	C	T	1042173	3	4	128	1	0	0	0	0	1	0	0	0	37	536	19	1	427	1	ABCA7	19	1042173	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		1042173	58086810	38	8615											
PPM1N	147699	broad.mit.edu	37	19	46003206	46003206	+	Splice_Site	SNP	G	G	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:46003206G>C	uc002pce.3	+	2	940	c.940_splice	c.e2-1	p.G314_splice	RTN2_uc002pcb.3_5'Flank|RTN2_uc002pcc.3_5'Flank|RTN2_uc002pcd.3_5'Flank|PPM1N_uc002pcf.3_Splice_Site	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) (PPM1N), mRNA.	314	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						ACCGGCTTCAGGGCAGCCTGG	0.607													C	46003206	G	C	46003206	5	2	128	1	0	0	0	0	0	0	1	0	12346	1014	35	5	945	5	PPM1N	19	46003206	Splice_Site	SNP	G	TCGA-14-0786-01B-01D-1492-08	44961033	46003206	13125777	39	8616											
ZSCAN5B	342933	broad.mit.edu	37	19	56701423	56701423	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:56701423C>T	uc010ygh.2	-	3	1261	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	421					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GACTCGTGGGCGAACCGCTTT	0.567													T	56701423	C	T	56701423	3	4	128	1	0	0	0	0	1	0	0	0	18236	768	27	1	230	1	ZSCAN5B	19	56701423	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	10698217	56701423	2427560	40	8617											
KRTAP19-2	337969	broad.mit.edu	37	21	31859635	31859635	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr21:31859635G>T	uc011acy.2	-	0	33	c.33C>A	c.(31-33)agC>agA	p.S11R		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	Homo sapiens keratin associated protein 19-2 (KRTAP19-2), mRNA.	11						intermediate filament		p.G10S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTCTGCAGAAGCTGCCACATC	0.572													T	31859635	G	T	31859635	3	4	128	1	0	0	0	0	1	0	0	0	8529	962	34	5	127	5	KRTAP19-2	21	31859635	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		31859635	16270260	41	8618											
TMPRSS3	64699	broad.mit.edu	37	21	43803237	43803237	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr21:43803237G>A	uc002zbb.2	-	7	888	c.687C>T	c.(685-687)ccC>ccT	p.P229P	TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.P102P|TMPRSS3_uc002zba.2_Silent_p.P102P|TMPRSS3_uc002zbc.2_Silent_p.P229P|TMPRSS3_uc002zbd.3_Silent_p.P229P	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	229	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TGGCCTGCCAGGGCCACTGCG	0.587													A	43803237	G	A	43803237	2	1	128	1	0	0	0	0	0	0	0	1	16245	987	35	3		3	TMPRSS3	21	43803237	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	11943602	43803237	4326658	42	8619											
C22orf24	25775	broad.mit.edu	37	22	32334001	32334001	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr22:32334001T>C	uc003aly.3	-	1	219	c.52A>G	c.(52-54)Acc>Gcc	p.T18A	C22orf24_uc003alx.3_Non-coding_Transcript	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	Homo sapiens chromosome 22 open reading frame 24 (C22orf24), mRNA.	18						integral to membrane				central_nervous_system(1)|urinary_tract(1)	2						CTTGACATGGTCCAAAGACTT	0.473													C	32334001	T	C	32334001	3	2	128	1	0	0	0	0	1	0	0	0	2138	1667	58	4	438	4	C22orf24	22	32334001	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08		32334001	18970565	43	8620											
NLGN4X	57502	broad.mit.edu	37	X	5811156	5811156	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:5811156G>T	uc010ndi.3	-	6	2728	c.2264C>A	c.(2263-2265)aCa>aAa	p.T755K	NLGN4X_uc004crp.3_Missense_Mutation_p.T738K|NLGN4X_uc010ndh.3_Missense_Mutation_p.T718K|NLGN4X_uc004crq.3_Missense_Mutation_p.T718K|NLGN4X_uc004crr.3_Missense_Mutation_p.T718K|NLGN4X_uc010ndj.3_Missense_Mutation_p.T718K	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	718					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GATATCATTTGTGGTGTTTCT	0.522													T	5811156	G	T	5811156	3	4	128	1	0	0	0	0	1	0	0	0	10464	1377	48	5	301	5	NLGN4X	23	5811156	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		5811156	149459404	44	8621											
SSX3	10214	broad.mit.edu	37	X	48209558	48209558	+	Splice_Site	SNP	C	C	T			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:48209558C>T	uc004djd.1	-	6	425	c.331_splice	c.e6-1	p.I111_splice	SSX3_uc004dje.3_Splice_Site_p.I111_splice	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TGGGCATGATCTTTATAATGT	0.433													T	48209558	C	T	48209558	5	4	128	1	0	0	0	0	0	0	1	0	15204	927	32	3	295	3	SSX3	23	48209558	Splice_Site	SNP	C	TCGA-14-0786-01B-01D-1492-08	42398402	48209558	107061002	45	8622											
KCND1	3750	broad.mit.edu	37	X	48822565	48822565	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:48822565G>A	uc004dlx.1	-	4	3188	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	KCND1_uc004dlw.1_Missense_Mutation_p.R162C	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	539						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						ATGGCGCGGCGCTTGGCCCTG	0.682													A	48822565	G	A	48822565	3	1	128	1	0	0	0	0	1	0	0	0	8018	1087	38	1	336	1	KCND1	23	48822565	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	613007	48822565	106447995	46	8623											
KIAA1210	57481	broad.mit.edu	37	X	118222577	118222577	+	Silent	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:118222577G>A	uc004era.4	-	10	2616	c.2616C>T	c.(2614-2616)gaC>gaT	p.D872D		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	872										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGAGAGGCAGGTCTTCCTCTG	0.448													A	118222577	G	A	118222577	2	1	128	1	0	0	0	0	0	0	0	1	8214	1252	44	3		3	KIAA1210	23	118222577	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	69400012	118222577	37047983	47	8624											
MAGEC2	51438	broad.mit.edu	37	X	141291256	141291256	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:141291256T>G	uc022cfj.1	-	0	518	c.518A>C	c.(517-519)aAg>aCg	p.K173T	MAGEC2_uc004fbu.2_Missense_Mutation_p.K173T	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	173	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTTGTACTTGATGACAAT	0.478										HNSCC(46;0.14)			G	141291256	T	G	141291256	3	3	128	1	0	0	0	0	1	0	0	0	9181	1609	56	5	607	5	MAGEC2	23	141291256	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08	23068679	141291256	13979304	48	8625											
MAGEA6	4105	broad.mit.edu	37	X	151870086	151870086	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:151870086G>A	uc022chf.1	+	0	776	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	MAGEA6_uc004ffq.1_Missense_Mutation_p.R259Q|MAGEA6_uc004ffr.1_Missense_Mutation_p.R259Q	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	259	MAGE.						protein binding	p.R259Q(2)|p.R259R(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGTACCGGCAGGTCCCC	0.522													A	151870086	G	A	151870086	3	1	128	1	0	0	0	0	1	0	0	0	9170	1116	39	2	778	2	MAGEA6	23	151870086	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	10578830	151870086	3400474	49	8626											
MRTO4	51154	broad.mit.edu	37	1	19584431	19584431	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:19584431T>G	uc001bbs.3	+	5	701	c.446T>G	c.(445-447)aTg>aGg	p.M149R		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	149					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACTCCATGGAGCCACAG	0.597													G	19584431	T	G	19584431	3	3	129	1	0	0	0	0	1	0	0	0	9852	1464	51	5	468	5	MRTO4	1	19584431	Missense_Mutation	SNP	T	TCGA-14-0787-01A-01W-0424-08		19584431	229666190	1	8627											
SF3A3	10946	broad.mit.edu	37	1	38435290	38435290	+	Nonsense_Mutation	SNP	C	C	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:38435290C>A	uc001cci.3	-	12	1247	c.1123G>T	c.(1123-1125)Gag>Tag	p.E375*	SF3A3_uc010oik.2_Nonsense_Mutation_p.E322*	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	375					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAAATGATCTCGTTCTCTTCA	0.468													A	38435290	C	A	38435290	4	1	129	1	0	0	0	0	0	1	0	0	14148	893	31	5	402	5	SF3A3	1	38435290	Nonsense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	18850859	38435290	210815331	2	8628											
HMCN1	83872	broad.mit.edu	37	1	186099788	186099788	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:186099788C>T	uc001grq.1	+	84	13418	c.13189C>T	c.(13189-13191)Cgg>Tgg	p.R4397W	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4397	Ig-like C2-type 43.				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						CCACAGAATCCGGCAACTGGG	0.507													T	186099788	C	T	186099788	3	4	129	1	0	0	0	0	1	0	0	0	7220	643	23	2	13527	2	HMCN1	1	186099788	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	147664498	186099788	63150833	3	8629											
DENND1B	163486	broad.mit.edu	37	1	197522236	197522236	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:197522236C>T	uc021pgu.1	-	15	1494	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	DENND1B_uc010ppf.2_Intron|DENND1B_uc001guf.3_Missense_Mutation_p.D386N|DENND1B_uc001gue.3_Missense_Mutation_p.D356N	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	386	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AGTCGACCATCGATAAACTAG	0.303													T	197522236	C	T	197522236	3	4	129	1	0	0	0	0	1	0	0	0	4427	884	31	2	1244	2	DENND1B	1	197522236	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	11422448	197522236	51728385	4	8630											
RYR2	6262	broad.mit.edu	37	1	237791221	237791221	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:237791221G>A	uc001hyl.1	+	40	6401	c.6281G>A	c.(6280-6282)gGc>gAc	p.G2094D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2094	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			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)			CAGTATGACGGCATTGGGGGT	0.557													A	237791221	G	A	237791221	3	1	129	1	0	0	0	0	1	0	0	0	13769	1203	42	3	6443	3	RYR2	1	237791221	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	40268985	237791221	11459400	5	8631											
VPS54	51542	broad.mit.edu	37	2	64147109	64147109	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:64147109C>T	uc002scq.3	-	14	2235	c.2072G>A	c.(2071-2073)cGc>cAc	p.R691H	VPS54_uc002scp.3_Missense_Mutation_p.R679H|VPS54_uc002scn.3_5'UTR|VPS54_uc002sco.3_Missense_Mutation_p.R176H|VPS54_uc010fct.3_Missense_Mutation_p.R538H	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	691					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTGCTTCCAGCGCTCATTGTC	0.393													T	64147109	C	T	64147109	3	4	129	1	0	0	0	0	1	0	0	0	17213	768	27	1	897	1	VPS54	2	64147109	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		64147109	179052264	6	8632											
RGPD4	285190	broad.mit.edu	37	2	108455386	108455386	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:108455386T>A	uc010ywk.2	+	3	453	c.371T>A	c.(370-372)cTt>cAt	p.L124H	RGPD4_uc002tdu.3_5'UTR	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	124					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAGCAAAACTTTTCCCAGGA	0.333													A	108455386	T	A	108455386	3	1	129	1	0	0	0	0	1	0	0	0	13288	1609	56	5	385	5	RGPD4	2	108455386	Missense_Mutation	SNP	T	TCGA-14-0787-01A-01W-0424-08	44308277	108455386	134743987	7	8633											
GTDC1	79712	broad.mit.edu	37	2	144765034	144765034	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:144765034A>T	uc002tvp.3	-	6	869	c.590T>A	c.(589-591)gTt>gAt	p.V197D	GTDC1_uc002tvo.3_Missense_Mutation_p.V197D|GTDC1_uc021vqf.1_Missense_Mutation_p.V197D|GTDC1_uc010fnn.3_Missense_Mutation_p.V197D|GTDC1_uc002tvs.3_Missense_Mutation_p.V165D|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Missense_Mutation_p.V197D|GTDC1_uc010fno.3_Missense_Mutation_p.V68D|GTDC1_uc002tvt.2_Missense_Mutation_p.V197D	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	197					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CATGGACAGAACCGCACCGCC	0.403													T	144765034	A	T	144765034	3	4	129	1	0	0	0	0	1	0	0	0	6851	43	2	5	810	5	GTDC1	2	144765034	Missense_Mutation	SNP	A	TCGA-14-0787-01A-01W-0424-08	36309648	144765034	98434339	8	8634											
ALS2CR11	151254	broad.mit.edu	37	2	202401017	202401017	+	Silent	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:202401017G>A	uc002uyf.3	-	12	1285	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	ALS2CR11_uc002uye.3_Silent_p.G411G|ALS2CR11_uc010fti.3_Intron|ALS2CR11_uc021vvc.1_Silent_p.G411G	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	411										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GTATAGTCAGGCCTTTCTCAG	0.338													A	202401017	G	A	202401017	2	1	129	1	0	0	0	0	0	0	0	1	552	1190	42	3		3	ALS2CR11	2	202401017	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08	57635983	202401017	40798356	9	8635											
ALS2CR11	151254	broad.mit.edu	37	2	202483675	202483675	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:202483675G>A	uc002uyf.3	-	0	231	c.179C>T	c.(178-180)aCg>aTg	p.T60M	ALS2CR11_uc002uye.3_Missense_Mutation_p.T60M|ALS2CR11_uc010fti.3_Missense_Mutation_p.T60M|ALS2CR11_uc021vvc.1_Missense_Mutation_p.T60M	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	60										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AGGCAGGGCCGTCGTGCCCTG	0.642													A	202483675	G	A	202483675	3	1	129	1	0	0	0	0	1	0	0	0	552	1145	40	1	5494	1	ALS2CR11	2	202483675	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	82658	202483675	40715698	10	8636											
FAM124B	79843	broad.mit.edu	37	2	225266256	225266256	+	Missense_Mutation	SNP	G	G	A	rs149161165	by1000genomes	TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:225266256G>A	uc002vnx.3	-	0	456	c.230C>T	c.(229-231)cCg>cTg	p.P77L	FAM124B_uc002vnw.3_Missense_Mutation_p.P77L	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	77							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ATCCTCTCCCGGGCTTTCGTG	0.572													A	225266256	G	A	225266256	3	1	129	1	0	0	0	0	1	0	0	0	5426	1116	39	2	1236	2	FAM124B	2	225266256	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	22782581	225266256	17933117	11	8637											
ANO7	50636	broad.mit.edu	37	2	242142864	242142864	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:242142864C>T	uc002wax.2	+	8	1105	c.1002C>T	c.(1000-1002)caC>caT	p.H334H		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	334						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCCTGGACCACGTGCGCAGGT	0.692													T	242142864	C	T	242142864	2	4	129	1	0	0	0	0	0	0	0	1	702	535	19	1		1	ANO7	2	242142864	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	16876608	242142864	1056509	12	8638											
FRYL	285527	broad.mit.edu	37	4	48569356	48569356	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr4:48569356C>T	uc003gyh.1	-	27	3683	c.3078G>A	c.(3076-3078)ctG>ctA	p.L1026L	FRYL_uc003gyk.3_Silent_p.L1026L|FRYL_uc003gyi.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1026					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTCTGCTTCCAGGAGTTGTC	0.343													T	48569356	C	T	48569356	2	4	129	1	0	0	0	0	0	0	0	1	6064	581	21	3		3	FRYL	4	48569356	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08		48569356	142584920	13	8639											
USO1	8615	broad.mit.edu	37	4	76722293	76722293	+	Silent	SNP	A	A	G			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr4:76722293A>G	uc003hiu.3	+	15	1948	c.1773A>G	c.(1771-1773)aaA>aaG	p.K591K	USO1_uc003hiv.3_Silent_p.K484K|USO1_uc003hiw.3_Silent_p.K477K	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	642	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGAGGTGAAAAAAACATTAG	0.294													G	76722293	A	G	76722293	2	3	129	1	0	0	0	0	0	0	0	1	17036	11	1	4		4	USO1	4	76722293	Silent	SNP	A	TCGA-14-0787-01A-01W-0424-08	28152937	76722293	114431983	14	8640											
VCAN	1462	broad.mit.edu	37	5	82849273	82849273	+	Missense_Mutation	SNP	G	G	A	rs145625752		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:82849273G>A	uc003kii.3	+	10	9940	c.9584G>A	c.(9583-9585)cGg>cAg	p.R3195Q	VCAN_uc003kij.3_Missense_Mutation_p.R2208Q|VCAN_uc010jau.2_Missense_Mutation_p.R1441Q|VCAN_uc003kik.3_Missense_Mutation_p.R454Q|VCAN_uc003kil.3_Missense_Mutation_p.R1859Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3195	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			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)		GCAGCTGAACGGGAATGCCGT	0.473													A	82849273	G	A	82849273	3	1	129	1	0	0	0	0	1	0	0	0	17135	1116	39	2	9622	2	VCAN	5	82849273	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		82849273	98065987	15	8641											
FAT2	2196	broad.mit.edu	37	5	150922879	150922879	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:150922879C>T	uc003lue.4	-	8	7822	c.7809G>A	c.(7807-7809)ccG>ccA	p.P2603P		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2603	Cadherin 23.				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)			CCTGGATAACCGGAGAGTCTT	0.443													T	150922879	C	T	150922879	2	4	129	1	0	0	0	0	0	0	0	1	5690	639	23	2		2	FAT2	5	150922879	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	68073606	150922879	29992381	16	8642											
HK3	3101	broad.mit.edu	37	5	176314737	176314737	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:176314737C>T	uc003mfa.3	-	10	1407	c.1315G>A	c.(1315-1317)Gtc>Atc	p.V439I	HK3_uc003mez.3_5'UTR	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	439	Regulatory.			V -> I (in Ref. 4; AAC50422).	glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			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)			CCCTGCAGGACGCTGCAGAAC	0.622													T	176314737	C	T	176314737	3	4	129	1	0	0	0	0	1	0	0	0	7192	536	19	1	1492	1	HK3	5	176314737	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	25391858	176314737	4600523	17	8643											
CARD11	84433	broad.mit.edu	37	7	2963984	2963984	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:2963984C>T	uc003smv.3	-	14	2157	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	608					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAAGGAGTAGCGTTCGTGACT	0.642			Mis		DLBCL								T	2963984	C	T	2963984	3	4	129	1	0	0	0	0	1	0	0	0	2645	768	27	1	1685	1	CARD11	7	2963984	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		2963984	156174679	18	8644											
PON1	5446	broad.mit.edu	37	7	95019499	95019499	+	Silent	SNP	A	A	G			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:95019499A>G	uc003unt.3	-	2	193	c.168T>C	c.(166-168)gaT>gaC	p.D56D	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Silent_p.D56D	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	56					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TAGGAAGTATATCAATATCTT	0.378													G	95019499	A	G	95019499	2	3	129	1	0	0	0	0	0	0	0	1	12248	446	16	4		4	PON1	7	95019499	Silent	SNP	A	TCGA-14-0787-01A-01W-0424-08	92055515	95019499	64119164	19	8645											
PLXNA4	91584	broad.mit.edu	37	7	131872361	131872361	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:131872361C>T	uc003vra.4	-	14	3091	c.2862G>A	c.(2860-2862)ctG>ctA	p.L954L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	954	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGAGAGAGTCAGTGTCTGTG	0.617													T	131872361	C	T	131872361	2	4	129	1	0	0	0	0	0	0	0	1	12122	813	29	3		3	PLXNA4	7	131872361	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	36852862	131872361	27266302	20	8646											
SSPO	23145	broad.mit.edu	37	7	149493732	149493732	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:149493732G>T	uc010lpk.3	+	44	6719	c.6719G>T	c.(6718-6720)aGt>aTt	p.S2240I		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2243	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCTGTGCCAGTGGTGAGTGT	0.652													T	149493732	G	T	149493732	3	4	129	1	0	0	0	0	1	0	0	0	15188	1029	36	5	6902	5	SSPO	7	149493732	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	17621371	149493732	9644931	21	8647											
WDR67	93594	broad.mit.edu	37	8	124109565	124109565	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr8:124109565C>T	uc003ypp.2	+	5	805	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	WDR67_uc011lig.2_Missense_Mutation_p.H239Y|WDR67_uc011lih.2_Missense_Mutation_p.H129Y|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Missense_Mutation_p.H239Y|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	239						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATCATCTTCATTTGTGGTG	0.423													T	124109565	C	T	124109565	3	4	129	1	0	0	0	0	1	0	0	0	17315	826	29	3	737	3	WDR67	8	124109565	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		124109565	22254457	22	8648											
INPP5E	56623	broad.mit.edu	37	9	139327520	139327520	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr9:139327520C>G	uc004cho.3	-	4	1552	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D	INPP5E_uc010nbm.3_Missense_Mutation_p.E389D	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA.	389						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CCGTGGAGCACTCCACCTCTG	0.627													G	139327520	C	G	139327520	3	3	129	1	0	0	0	0	1	0	0	0	7757	564	20	5	791	5	INPP5E	9	139327520	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		139327520	1885911	23	8649											
KCNK18	338567	broad.mit.edu	37	10	118957199	118957199	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr10:118957199G>T	uc010qsr.2	+	0	200	c.200G>T	c.(199-201)aGa>aTa	p.R67I		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	67						integral to membrane|plasma membrane				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)		GAGCTCTGCAGAATCTTGAAC	0.582													T	118957199	G	T	118957199	3	4	129	1	0	0	0	0	1	0	0	0	8065	942	33	5	202	5	KCNK18	10	118957199	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		118957199	16577548	24	8650											
TIAL1	7073	broad.mit.edu	37	10	121341480	121341480	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr10:121341480delT	uc001lei.1	-	4	889	c.325delA	c.(325-327)acafs	p.T109fs	TIAL1_uc001leh.1_Frame_Shift_Del_p.T87fs|TIAL1_uc001lej.1_Frame_Shift_Del_p.T126fs|TIAL1_uc001lek.1_5'UTR|TIAL1_uc010qtb.1_5'UTR	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	109	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCTTCTGTTGTAATTTCTGGA	0.348													-	121341480	T	-	121341480	7	5	129	1	0	1	0	1	0	0	0	0	15886	1638	57	0	834	0	TIAL1	10	121341480	Frame_Shift_Del	DEL	T	TCGA-14-0787-01A-01W-0424-08	2384281	121341480	14193267	25	8651											
DCHS1	8642	broad.mit.edu	37	11	6647232	6647232	+	Missense_Mutation	SNP	C	C	T	rs149822394		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:6647232C>T	uc001mem.1	-	16	7051	c.6650G>A	c.(6649-6651)cGt>cAt	p.R2217H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2217	Cadherin 21.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACAATCCACGTGCCGGCTG	0.602													T	6647232	C	T	6647232	3	4	129	1	0	0	0	0	1	0	0	0	4287	536	19	1	3266	1	DCHS1	11	6647232	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		6647232	128359284	26	8652											
OR8J3	81168	broad.mit.edu	37	11	55904448	55904448	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:55904448C>T	uc010riz.2	-	0	747	c.747G>A	c.(745-747)acG>acA	p.T249T		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T249T(4)|p.T249K(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)					CATAGAAAACCGTGACTGCTA	0.398													T	55904448	C	T	55904448	2	4	129	1	0	0	0	0	0	0	0	1	11242	639	23	2		2	OR8J3	11	55904448	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	49257216	55904448	79102068	27	8653											
GIF	2694	broad.mit.edu	37	11	59610023	59610023	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:59610023G>T	uc001noi.3	-	3	452	c.404C>A	c.(403-405)cCc>cAc	p.P135H	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	135					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.G134E(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGCTAGACTGGGCCCATAGAA	0.562													T	59610023	G	T	59610023	3	4	129	1	0	0	0	0	1	0	0	0	6376	1232	43	5	873	5	GIF	11	59610023	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	3705575	59610023	75396493	28	8654											
SCNN1A	6337	broad.mit.edu	37	12	6464465	6464465	+	Silent	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:6464465G>A	uc001qnw.3	-	4	1557	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G	SCNN1A_uc001qnv.3_Silent_p.G72G|SCNN1A_uc001qnx.3_Silent_p.G372G|SCNN1A_uc010sfb.2_Silent_p.G395G	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	372					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGGTCTCCACGCCAGGCCGCA	0.612													A	6464465	G	A	6464465	2	1	129	1	0	0	0	0	0	0	0	1	13927	1074	38	1		1	SCNN1A	12	6464465	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08		6464465	127387430	29	8655											
MYO1A	4640	broad.mit.edu	37	12	57424856	57424856	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:57424856G>C	uc001smw.4	-	22	2692	c.2452C>G	c.(2452-2454)Cag>Gag	p.Q818E	MYO1A_uc010sqz.2_Missense_Mutation_p.Q656E|MYO1A_uc009zpd.3_Missense_Mutation_p.Q818E	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	818					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGCAGCTCCTGATTTGCTGTG	0.517													C	57424856	G	C	57424856	3	2	129	1	0	0	0	0	1	0	0	0	10068	1299	45	5	703	5	MYO1A	12	57424856	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	50960391	57424856	76427039	30	8656											
NAV3	89795	broad.mit.edu	37	12	78574731	78574731	+	Silent	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:78574731G>A	uc001syp.3	+	29	5771	c.5598G>A	c.(5596-5598)ccG>ccA	p.P1866P	NAV3_uc001syo.3_Silent_p.P1844P|NAV3_uc010sub.2_Silent_p.P1323P|NAV3_uc009zsf.3_Silent_p.P675P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1866						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			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						CTCGGCCACCGTCAGAATCCT	0.433										HNSCC(70;0.22)			A	78574731	G	A	78574731	2	1	129	1	0	0	0	0	0	0	0	1	10185	1132	40	1		1	NAV3	12	78574731	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08	21149875	78574731	55277164	31	8657											
OR4N2	390429	broad.mit.edu	37	14	20296487	20296487	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:20296487G>A	uc010tkv.2	+	0	880	c.880G>A	c.(880-882)Gtg>Atg	p.V294M		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAACCAGGAAGTGAAAGCTTC	0.383													A	20296487	G	A	20296487	3	1	129	1	0	0	0	0	1	0	0	0	11077	1029	36	3	882	3	OR4N2	14	20296487	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		20296487	87053053	32	8658											
CLEC14A	161198	broad.mit.edu	37	14	38723845	38723845	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:38723845G>T	uc001wum.1	-	0	1730	c.1383C>A	c.(1381-1383)aaC>aaA	p.N461K		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	461						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCACCCCATTGTTTGTGCAAT	0.607													T	38723845	G	T	38723845	3	4	129	1	0	0	0	0	1	0	0	0	3499	1368	48	5	93	5	CLEC14A	14	38723845	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	18427358	38723845	68625695	33	8659											
PYGL	5836	broad.mit.edu	37	14	51387718	51387718	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:51387718C>T	uc001wyu.3	-	5	855	c.728G>A	c.(727-729)cGc>cAc	p.R243H	PYGL_uc010tqq.2_Missense_Mutation_p.R209H|PYGL_uc010anz.1_Missense_Mutation_p.R46H	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	243					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGACCAGAGGCGCATGGTGTT	0.502													T	51387718	C	T	51387718	3	4	129	1	0	0	0	0	1	0	0	0	12861	768	27	1	1875	1	PYGL	14	51387718	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	12663873	51387718	55961822	34	8660											
SMOC1	64093	broad.mit.edu	37	14	70442486	70442486	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:70442486C>A	uc001xlt.2	+	3	715	c.433C>A	c.(433-435)Ccc>Acc	p.P145T	SMOC1_uc001xls.2_Missense_Mutation_p.P145T	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	145	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GGATGGGAAGCCCATCAGTGG	0.517													A	70442486	C	A	70442486	3	1	129	1	0	0	0	0	1	0	0	0	14801	739	26	5	447	5	SMOC1	14	70442486	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	19054768	70442486	36907054	35	8661											
C15orf2	23742	broad.mit.edu	37	15	24921536	24921536	+	Silent	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr15:24921536C>T	uc001ywo.3	+	0	996	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	174					cell differentiation|multicellular organismal development|spermatogenesis			p.D174D(4)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGGAGGATGACGAGAAAAGGA	0.622													T	24921536	C	T	24921536	2	4	129	1	0	0	0	0	0	0	0	1	1784	535	19	1		1	C15orf2	15	24921536	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08		24921536	77609856	36	8662											
SEC14L5	9717	broad.mit.edu	37	16	5046964	5046964	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr16:5046964G>A	uc002cye.2	+	7	1069	c.889G>A	c.(889-891)Gtg>Atg	p.V297M		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	297						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCAGCACCAGGTGGATCTCCT	0.612													A	5046964	G	A	5046964	3	1	129	1	0	0	0	0	1	0	0	0	13985	1261	44	3	915	3	SEC14L5	16	5046964	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		5046964	85307789	37	8663											
ZFP90	146198	broad.mit.edu	37	16	68596966	68596966	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr16:68596966A>T	uc010cff.3	+	4	568	c.276A>T	c.(274-276)gaA>gaT	p.E92D	ZFP90_uc002ewb.3_5'UTR|ZFP90_uc002ewc.3_5'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.E92D|ZFP90_uc002ewe.3_Missense_Mutation_p.E92D	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	92					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		CCAGGCCTGAAGTCAAATCAT	0.423													T	68596966	A	T	68596966	3	4	129	1	0	0	0	0	1	0	0	0	17651	69	3	5	290	5	ZFP90	16	68596966	Missense_Mutation	SNP	A	TCGA-14-0787-01A-01W-0424-08	63550002	68596966	21757787	38	8664											
GPR179	440435	broad.mit.edu	37	17	36486234	36486234	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr17:36486234T>C	uc002hpz.3	-	10	3239	c.3218A>G	c.(3217-3219)cAc>cGc	p.H1073R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1073						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTGAGGCTGTGGGATTTAGG	0.567													C	36486234	T	C	36486234	3	2	129	1	0	0	0	0	1	0	0	0	6674	1696	59	4	3889	4	GPR179	17	36486234	Missense_Mutation	SNP	T	TCGA-14-0787-01A-01W-0424-08		36486234	44708976	39	8665											
CDH7	1005	broad.mit.edu	37	18	63476948	63476948	+	Silent	SNP	T	T	C			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr18:63476948T>C	uc002lkb.3	+	2	645	c.219T>C	c.(217-219)tcT>tcC	p.S73S	CDH7_uc002ljz.3_Silent_p.S73S|CDH7_uc002lka.3_Silent_p.S73S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	73	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCTTCACTCTGATGTTGATA	0.378													C	63476948	T	C	63476948	2	2	129	1	0	0	0	0	0	0	0	1	3115	1567	55	4		4	CDH7	18	63476948	Silent	SNP	T	TCGA-14-0787-01A-01W-0424-08		63476948	14600300	40	8666											
NFIC	4782	broad.mit.edu	37	19	3449019	3449019	+	Silent	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:3449019G>A	uc010xhi.2	+	6	1036	c.966G>A	c.(964-966)tcG>tcA	p.S322S	NFIC_uc002lxo.3_Silent_p.S313S|NFIC_uc010xhh.2_Silent_p.S313S|NFIC_uc010xhj.2_Silent_p.S322S|NFIC_uc002lxp.3_Silent_p.S322S	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	322					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAGGCATCTCGTCCCCGGTGA	0.632													A	3449019	G	A	3449019	2	1	129	1	0	0	0	0	0	0	0	1	10372	1132	40	1		1	NFIC	19	3449019	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08		3449019	55679964	41	8667											
TYK2	7297	broad.mit.edu	37	19	10467283	10467283	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:10467283G>A	uc002moc.4	-	17	2956	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TYK2_uc010dxe.3_Missense_Mutation_p.R675C	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	860	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGGATGGTGCGGAATGATGGC	0.662													A	10467283	G	A	10467283	3	1	129	1	0	0	0	0	1	0	0	0	16807	1116	39	2	1017	2	TYK2	19	10467283	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	7018264	10467283	48661700	42	8668											
SARS2	54938	broad.mit.edu	37	19	39408365	39408365	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:39408365delG	uc010xup.1	-	13	1326	c.1166_splice	c.e13+1	p.R389_splice	SARS2_uc002ojz.2_Splice_Site_p.R197_splice|SARS2_uc002oka.2_Splice_Site_p.R387_splice|SARS2_uc010xuq.1_Splice_Site_p.R387_splice|SARS2_uc010xur.1_Splice_Site	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	387					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTCCACACCGGAAGTGCAAG	0.637													-	39408365	G	-	39408365	7	5	129	1	0	1	0	1	0	0	0	0	13845	1130	39	0	417	0	SARS2	19	39408365	Frame_Shift_Del	DEL	G	TCGA-14-0787-01A-01W-0424-08	28941082	39408365	19720618	43	8669											
ZNF610	162963	broad.mit.edu	37	19	52869863	52869863	+	Missense_Mutation	SNP	G	G	A	rs150692972		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:52869863G>A	uc002pyx.4	+	5	1638	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	ZNF610_uc002pyy.4_Missense_Mutation_p.R411H|ZNF610_uc002pyz.4_Missense_Mutation_p.R368H|ZNF610_uc002pza.3_Missense_Mutation_p.R411H	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTCTTTGGGCGCAAATTATAC	0.423													A	52869863	G	A	52869863	3	1	129	1	0	0	0	0	1	0	0	0	18033	1087	38	1	1246	1	ZNF610	19	52869863	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	13461498	52869863	6259120	44	8670											
KIR2DL1	3802	broad.mit.edu	37	19	55284986	55284986	+	Missense_Mutation	SNP	C	C	T	rs117204680	byFrequency	TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:55284986C>T	uc010erz.1	+	2	310	c.272C>T	c.(271-273)aCg>aTg	p.T91M	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.T91M	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	91	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGTCGCATGACGCAAGACCTG	0.532													T	55284986	C	T	55284986	3	4	129	1	0	0	0	0	1	0	0	0	8316	536	19	1	282	1	KIR2DL1	19	55284986	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	2415123	55284986	3843997	45	8671											
APOBEC3B	200315	broad.mit.edu	37	22	39357613	39357613	+	Silent	SNP	C	C	T	rs141631289		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr22:39357613C>T	uc003awn.2	+	2	566	c.396C>T	c.(394-396)taC>taT	p.Y132Y	APOBEC3B_uc011aob.1_Silent_p.Y114Y|APOBEC3B_uc011aoc.1_Silent_p.Y132Y	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.	315					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	p.Y132Y(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TCTATGATTACGACCCCCTAT	0.572													T	39357613	C	T	39357613	2	4	129	1	0	0	0	0	0	0	0	1	790	547	19	1		1	APOBEC3B	22	39357613	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08		39357613	11946953	46	8672											
RLIM	51132	broad.mit.edu	37	X	73811411	73811411	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chrX:73811411C>T	uc004ebu.3	-	4	2029	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	RLIM_uc004ebw.3_Missense_Mutation_p.G580D	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	580					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTTTGTTGCCTTCTGTATA	0.408													T	73811411	C	T	73811411	3	4	129	1	0	0	0	0	1	0	0	0	13390	739	26	3	139	3	RLIM	23	73811411	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		73811411	81459149	47	8673											
CHD5	26038	broad.mit.edu	37	1	6189033	6189033	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:6189033C>A	uc001amb.2	-	22	3595	c.3484G>T	c.(3484-3486)Gcc>Tcc	p.A1162S	CHD5_uc001alz.2_Missense_Mutation_p.A19S|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1162	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGCGCTTGGCCACCTGCGTG	0.642													A	6189033	C	A	6189033	3	1	130	1	0	0	0	0	1	0	0	0	3328	739	26	5	2456	5	CHD5	1	6189033	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		6189033	243061588	1	8674											
MRTO4	51154	broad.mit.edu	37	1	19584462	19584462	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:19584462C>T	uc001bbs.3	+	5	732	c.477C>T	c.(475-477)ccC>ccT	p.P159P		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	159					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCTGCCCACCGCCCTCA	0.607													T	19584462	C	T	19584462	2	4	130	1	0	0	0	0	0	0	0	1	9852	581	21	3		3	MRTO4	1	19584462	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	13395429	19584462	229666159	2	8675											
HPCAL4	51440	broad.mit.edu	37	1	40149794	40149794	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:40149794C>T	uc001cdr.3	-	2	313	c.193G>A	c.(193-195)Gcg>Acg	p.A65T	HPCAL4_uc010oix.2_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	65	EF-hand 2.				central nervous system development	intracellular	calcium ion binding	p.A65S(2)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCGTGCTGCGCGAACTTGGAG	0.682													T	40149794	C	T	40149794	3	4	130	1	0	0	0	0	1	0	0	0	7331	768	27	1	390	1	HPCAL4	1	40149794	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	20565332	40149794	209100827	3	8676											
C1orf177	163747	broad.mit.edu	37	1	55277777	55277777	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:55277777C>A	uc001cyb.4	+	5	731	c.677C>A	c.(676-678)gCa>gAa	p.A226E	C1orf177_uc001cya.4_Missense_Mutation_p.A226E	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	226										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACATATGTGGCACGATCCGTC	0.592													A	55277777	C	A	55277777	3	1	130	1	0	0	0	0	1	0	0	0	2017	710	25	5	699	5	C1orf177	1	55277777	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	15127983	55277777	193972844	4	8677											
GPSM2	29899	broad.mit.edu	37	1	109472462	109472462	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:109472462G>C	uc010ovc.2	+	14	2451	c.1955G>C	c.(1954-1956)aGa>aCa	p.R652T	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.R652T|GPSM2_uc010ove.1_Missense_Mutation_p.R652T|CLCC1_uc001dwg.1_3'UTR|CLCC1_uc001dwf.1_3'UTR	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	652					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTTTTACAAAGAGATCAAAAC	0.398													C	109472462	G	C	109472462	3	2	130	1	0	0	0	0	1	0	0	0	6735	942	33	5	2009	5	GPSM2	1	109472462	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	54194685	109472462	139778159	5	8678											
ZNF697	90874	broad.mit.edu	37	1	120165477	120165477	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:120165477C>T	uc001ehy.1	-	2	1603	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TTGCCGCACTCGATGCACGTG	0.647													T	120165477	C	T	120165477	3	4	130	1	0	0	0	0	1	0	0	0	18097	893	31	2	152	2	ZNF697	1	120165477	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	10693015	120165477	129085144	6	8679											
PDE4DIP	9659	broad.mit.edu	37	1	144886204	144886204	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:144886204C>T	uc021ouh.1	-	22	3332	c.3030G>A	c.(3028-3030)agG>agA	p.R1010R	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.R1010R|PDE4DIP_uc001elx.4_Silent_p.R1076R|PDE4DIP_uc001elv.4_Silent_p.R17R	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1010					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R1010S(3)|p.R1010N(3)|p.R1010K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAACTCAGCCCTCAGGTGGA	0.522			T	PDGFRB	MPD								T	144886204	C	T	144886204	2	4	130	1	0	0	0	0	0	0	0	1	11643	622	22	3		3	PDE4DIP	1	144886204	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	24720727	144886204	104364417	7	8680											
LINGO4	339398	broad.mit.edu	37	1	151774395	151774395	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:151774395G>A	uc001ezf.1	-	1	976	c.786C>T	c.(784-786)tgC>tgT	p.C262C	LINGO4_uc021oyu.1_Silent_p.C262C	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	262						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTCAGATTGCAGCGAGTGA	0.607													A	151774395	G	A	151774395	2	1	130	1	0	0	0	0	0	0	0	1	8817	1311	46	3		3	LINGO4	1	151774395	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	6888191	151774395	97476226	8	8681											
FLG2	388698	broad.mit.edu	37	1	152329096	152329096	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:152329096T>G	uc001ezw.4	-	2	1239	c.1166A>C	c.(1165-1167)cAg>cCg	p.Q389P	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	389	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTACAAGACTGGCTACCTCC	0.443													G	152329096	T	G	152329096	3	3	130	1	0	0	0	0	1	0	0	0	5923	1580	55	5	6013	5	FLG2	1	152329096	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	554701	152329096	96921525	9	8682											
CRNN	49860	broad.mit.edu	37	1	152383181	152383181	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:152383181G>A	uc001ezx.2	-	2	451	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	126					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTTTCCCCGCCCTTCCCAC	0.637													A	152383181	G	A	152383181	3	1	130	1	0	0	0	0	1	0	0	0	3892	1087	38	1	1114	1	CRNN	1	152383181	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	54085	152383181	96867440	10	8683											
S100A7A	338324	broad.mit.edu	37	1	153390660	153390660	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:153390660G>A	uc001fbt.1	+	1	159	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	34	EF-hand 1.					cytoplasm	calcium ion binding			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)			GCCTGCTGACGATGATGAAGG	0.483													A	153390660	G	A	153390660	2	1	130	1	0	0	0	0	0	0	0	1	13784	1045	37	2		2	S100A7A	1	153390660	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	1007479	153390660	95859961	11	8684											
HMCN1	83872	broad.mit.edu	37	1	186052023	186052023	+	Silent	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:186052023C>A	uc001grq.1	+	56	9043	c.8814C>A	c.(8812-8814)atC>atA	p.I2938I	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2938	Ig-like C2-type 27.				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						TAACAGATATCGGCAGGTATG	0.328													A	186052023	C	A	186052023	2	1	130	1	0	0	0	0	0	0	0	1	7220	874	31	5		5	HMCN1	1	186052023	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	32661363	186052023	63198598	12	8685											
HHIPL2	79802	broad.mit.edu	37	1	222713493	222713493	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:222713493G>A	uc001hnh.1	-	3	1367	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	437					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATCCGGCCTCGGCCCTGGCGC	0.577													A	222713493	G	A	222713493	4	1	130	1	0	0	0	0	0	1	0	0	7094	1124	39	2	889	2	HHIPL2	1	222713493	Nonsense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	36661470	222713493	26537128	13	8686											
RYR2	6262	broad.mit.edu	37	1	237802413	237802413	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:237802413C>T	uc001hyl.1	+	45	7147	c.7027C>T	c.(7027-7029)Ctt>Ttt	p.L2343F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2343	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			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)			TGGGAATGGGCTTCTTGCAGC	0.498													T	237802413	C	T	237802413	3	4	130	1	0	0	0	0	1	0	0	0	13769	797	28	3	7209	3	RYR2	1	237802413	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	15088920	237802413	11448208	14	8687											
RAD51AP2	729475	broad.mit.edu	37	2	17698942	17698942	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:17698942delT	uc002rcl.1	-	0	765	c.741delA	c.(739-741)aaafs	p.K247fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.K238fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	247										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATAGCTAGGTTTGGCAATTT	0.353													-	17698942	T	-	17698942	7	5	130	1	0	1	0	1	0	0	0	0	12987	1722	60	0	2750	0	RAD51AP2	2	17698942	Frame_Shift_Del	DEL	T	TCGA-14-0789-01A-01W-0424-08		17698942	225500431	15	8688											
ADCY3	109	broad.mit.edu	37	2	25095488	25095489	+	Frame_Shift_Ins	INS	-	-	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:25095488_25095489insG	uc010ykm.2	-	1	974_975	c.775_776insC	c.(775-777)cgcfs	p.R259fs	ADCY3_uc002rfs.4_Frame_Shift_Ins_p.R259fs	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	259					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAGCGACTGGCGGGCCTCCAGG	0.634													G	25095489	-	G	25095488	7	5	130	1	0	1	1	0	0	0	0	0	295	768	27	0	2738	0	ADCY3	2	25095488	Frame_Shift_Ins	INS	-	TCGA-14-0789-01A-01W-0424-08	7396546	25095488	218103885	16	8689											
PLB1	151056	broad.mit.edu	37	2	28761204	28761204	+	Missense_Mutation	SNP	G	G	A	rs149462466		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:28761204G>A	uc002rmb.2	+	9	618	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	PLB1_uc010ezj.2_Missense_Mutation_p.G203S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	192	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			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)					TGCGGCGGGCGGCGTGGATGA	0.642													A	28761204	G	A	28761204	3	1	130	1	0	0	0	0	1	0	0	0	12024	1116	39	2	645	2	PLB1	2	28761204	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	3665716	28761204	214438169	17	8690											
LRP1B	53353	broad.mit.edu	37	2	141081530	141081530	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:141081530T>C	uc002tvj.1	-	80	13418	c.12446A>G	c.(12445-12447)gAg>gGg	p.E4149G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4149					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E4149*(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)		AGCTAAGTACTCTACTGAACC	0.289										TSP Lung(27;0.18)			C	141081530	T	C	141081530	3	2	130	1	0	0	0	0	1	0	0	0	8955	1551	54	4	1397	4	LRP1B	2	141081530	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	112320326	141081530	102117843	18	8691											
SGOL2	151246	broad.mit.edu	37	2	201437974	201437974	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:201437974G>A	uc002uvw.2	+	6	3018	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	SGOL2_uc010zhd.1_Missense_Mutation_p.E969K|SGOL2_uc010zhe.1_Missense_Mutation_p.E969K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	969					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAACAGTAATGAAAAGGAAAG	0.274													A	201437974	G	A	201437974	3	1	130	1	0	0	0	0	1	0	0	0	14217	1291	45	3	2927	3	SGOL2	2	201437974	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	60356444	201437974	41761399	19	8692											
SP140	11262	broad.mit.edu	37	2	231109774	231109774	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:231109774A>T	uc002vql.3	+	5	758	c.643A>T	c.(643-645)Agc>Tgc	p.S215C	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.S215C|SP140_uc002vqn.3_Missense_Mutation_p.S215C|SP140_uc002vqm.3_Missense_Mutation_p.S215C|SP140_uc010fxl.3_Missense_Mutation_p.S215C	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	215					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGATGCACCCAGCCTACTACC	0.443													T	231109774	A	T	231109774	3	4	130	1	0	0	0	0	1	0	0	0	14962	188	7	5	782	5	SP140	2	231109774	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08	29671800	231109774	12089599	20	8693											
UGT1A1	54575	broad.mit.edu	37	2	234545195	234545195	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:234545195C>T	uc002vur.3	+	0	73	c.27C>T	c.(25-27)ccC>ccT	p.P9P	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.P9P	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	0					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGACCAGCCCCGTTCCTTTAT	0.572													T	234545195	C	T	234545195	2	4	130	1	0	0	0	0	0	0	0	1	16941	639	23	2		2	UGT1A1	2	234545195	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	3435421	234545195	8654178	21	8694											
CHL1	10752	broad.mit.edu	37	3	405060	405060	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:405060A>T	uc003bot.3	+	13	2221	c.1579A>T	c.(1579-1581)Att>Ttt	p.I527F	CHL1_uc003bou.3_Missense_Mutation_p.I511F|CHL1_uc003bow.2_Missense_Mutation_p.I511F|CHL1_uc011asi.2_Missense_Mutation_p.I527F|BC065754_uc003box.1_Non-coding_Transcript	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	511	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				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)		CAATTTGGATATTAGAAGTAT	0.378													T	405060	A	T	405060	3	4	130	1	0	0	0	0	1	0	0	0	3349	449	16	5	1625	5	CHL1	3	405060	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08		405060	197617370	22	8695											
CACNA2D3	55799	broad.mit.edu	37	3	54930849	54930849	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:54930849G>A	uc003dhf.3	+	25	2368	c.2320G>A	c.(2320-2322)Gct>Act	p.A774T	CACNA2D3_uc003dhg.1_Missense_Mutation_p.A680T|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	774						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A774T(2)|p.A773V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCGAAGAGCCGCTGAGCAGAT	0.537													A	54930849	G	A	54930849	3	1	130	1	0	0	0	0	1	0	0	0	2550	1087	38	1	2422	1	CACNA2D3	3	54930849	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	54525789	54930849	143091581	23	8696											
PIK3CB	5291	broad.mit.edu	37	3	138417859	138417859	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:138417859C>T	uc011bmq.2	-	10	1660	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	PIK3CB_uc011bmn.2_Missense_Mutation_p.E66K|PIK3CB_uc011bmo.2_5'UTR|PIK3CB_uc011bmp.2_Missense_Mutation_p.E141K	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	554	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGATCCATTTCATTTTCACAC	0.383													T	138417859	C	T	138417859	3	4	130	1	0	0	0	0	1	0	0	0	11914	835	29	3	1598	3	PIK3CB	3	138417859	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	83487010	138417859	59604571	24	8697											
IDUA	3425	broad.mit.edu	37	4	995507	995507	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:995507C>T	uc003gby.3	+	5	718	c.630C>T	c.(628-630)cgC>cgT	p.R210R	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.R163R	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	210					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	AGGGTCTGCGCGCCGCCAGCC	0.716													T	995507	C	T	995507	2	4	130	1	0	0	0	0	0	0	0	1	7504	755	27	1		1	IDUA	4	995507	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08		995507	190158769	25	8698											
TLR10	81793	broad.mit.edu	37	4	38777060	38777060	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:38777060G>A	uc003gtj.3	-	3	790	c.152C>T	c.(151-153)aCg>aTg	p.T51M	TLR10_uc021xnk.1_Missense_Mutation_p.T37M|TLR10_uc003gti.3_Missense_Mutation_p.T51M|TLR10_uc021xnl.1_Missense_Mutation_p.T51M|TLR10_uc003gtk.3_Missense_Mutation_p.T51M|TLR10_uc021xnm.1_Missense_Mutation_p.T51M	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	51					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATCCAGTGTCGTTGTGGCTGG	0.448													A	38777060	G	A	38777060	3	1	130	1	0	0	0	0	1	0	0	0	15947	1145	40	1	2287	1	TLR10	4	38777060	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	37781553	38777060	152377216	26	8699											
CCDC158	339965	broad.mit.edu	37	4	77304876	77304876	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:77304876C>T	uc003hkb.4	-	5	895	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	CCDC158_uc003hkd.3_Missense_Mutation_p.E248K	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	248										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTCAGTGCTTCAAGTTGATCC	0.368													T	77304876	C	T	77304876	3	4	130	1	0	0	0	0	1	0	0	0	2790	835	29	3	2675	3	CCDC158	4	77304876	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	38527816	77304876	113849400	27	8700											
SPARCL1	8404	broad.mit.edu	37	4	88420673	88420673	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:88420673C>T	uc010ikm.3	-	3	626	c.54_splice	c.e3+1	p.P18_splice	SPARCL1_uc011cdc.2_Intron|SPARCL1_uc003hqs.4_Splice_Site_p.P18_splice|SPARCL1_uc011cdd.2_Splice_Site	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	18					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGAAATTTACCGGGATTGCAG	0.363													T	88420673	C	T	88420673	2	4	130	1	0	0	0	0	0	0	0	1	14995	666	23	2		2	SPARCL1	4	88420673	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	11115797	88420673	102733603	28	8701											
FGA	2243	broad.mit.edu	37	4	155507297	155507297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:155507297G>T	uc003iod.1	-	4	1342	c.1284C>A	c.(1282-1284)taC>taA	p.Y428*	FGA_uc003ioe.1_Nonsense_Mutation_p.Y428*|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	428					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTTCTGTGTGGTACTCTCTCC	0.512													T	155507297	G	T	155507297	4	4	130	1	0	0	0	0	0	1	0	0	5830	1256	44	5	1368	5	FGA	4	155507297	Nonsense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	67086624	155507297	35646979	29	8702											
THBS4	7060	broad.mit.edu	37	5	79378941	79378941	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:79378941A>G	uc021yaw.1	+	21	3054	c.2863A>G	c.(2863-2865)Aat>Gat	p.N955D	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	955					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCAAACCCAGAATTTCGACCG	0.453											OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	79378941	A	G	79378941	3	3	130	1	0	0	0	0	1	0	0	0	15853	246	9	4	2949	4	THBS4	5	79378941	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08		79378941	101536319	30	8703											
HARS	3035	broad.mit.edu	37	5	140053903	140053903	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140053903C>T	uc003lgv.3	-	12	1551	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	DND1_uc003lgt.3_5'Flank|HARS_uc003lgu.3_Missense_Mutation_p.R421Q|HARS_uc011czm.2_Missense_Mutation_p.R450Q|HARS_uc003lgw.3_Missense_Mutation_p.R470Q|HARS_uc011czn.2_Missense_Mutation_p.R430Q|HARS_uc011czo.2_Missense_Mutation_p.R416Q|HARS_uc011czp.2_Missense_Mutation_p.R376Q	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	490					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GTCTTCTCTTCGGACATCCAC	0.522													T	140053903	C	T	140053903	3	4	130	1	0	0	0	0	1	0	0	0	6959	884	31	2	64	2	HARS	5	140053903	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	60674962	140053903	40861357	31	8704											
PCDHAC2	56146	broad.mit.edu	37	5	140174750	140174750	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140174750G>A	uc003lhd.2	+	0	307	c.201G>A	c.(199-201)gcG>gcA	p.A67A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.A67A|PCDHAC2_uc011czy.2_Silent_p.A67A	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	85	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAAGAC	0.647													A	140174750	G	A	140174750	2	1	130	1	0	0	0	0	0	0	0	1	11533	1132	40	1		1	PCDHAC2	5	140174750	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	120847	140174750	40740510	32	8705											
PCDHB4	56131	broad.mit.edu	37	5	140503471	140503471	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140503471G>A	uc003lip.1	+	0	1891	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	631	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			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)			GCTGCTGAGCGAGCGCGACGC	0.687													A	140503471	G	A	140503471	3	1	130	1	0	0	0	0	1	0	0	0	11544	1059	37	2	1893	2	PCDHB4	5	140503471	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	328721	140503471	40411789	33	8706											
HLA-G	3136	broad.mit.edu	37	6	29856360	29856360	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:29856360C>A	uc010jro.3	+	2	612	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Missense_Mutation_p.L154M|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	154	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|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			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAACGAGGACCTGCGCTCCTG	0.672													A	29856360	C	A	29856360	3	1	130	1	0	0	0	0	1	0	0	0	7212	696	24	5		5	HLA-G	6	29856360	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		29856360	141258707	34	8707											
PRRT1	80863	broad.mit.edu	37	6	32118160	32118160	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:32118160G>A	uc003nzu.3	-	3	485	c.220C>T	c.(220-222)Cta>Tta	p.L74L	PRRT1_uc003nzs.3_Silent_p.V222V|PRRT1_uc003nzt.3_Silent_p.V181V			Q99946	PRRT1_HUMAN	Homo sapiens proline-rich transmembrane protein 1 (PRRT1), mRNA.	182					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CCACCGGGTAGACCGGCACGT	0.667													A	32118160	G	A	32118160	2	1	130	1	0	0	0	0	0	0	0	1	12609	929	33	3		3	PRRT1	6	32118160	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	2261800	32118160	138996907	35	8708											
ITPR3	3710	broad.mit.edu	37	6	33633622	33633622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:33633622C>T	uc021ywr.1	+	13	1644	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	474					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTTTGTCATCCAGCTGCTGGA	0.572													T	33633622	C	T	33633622	4	4	130	1	0	0	0	0	0	1	0	0	7922	595	21	3	1474	3	ITPR3	6	33633622	Nonsense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	1515462	33633622	137481445	36	8709											
VEGFA	7422	broad.mit.edu	37	6	43748479	43748479	+	Nonsense_Mutation	SNP	C	C	T	rs45533131		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:43748479C>T	uc003owh.3	+	5	1471	c.973C>T	c.(973-975)Cga>Tga	p.R325*	VEGFA_uc003owd.3_Intron|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Nonsense_Mutation_p.R325*|VEGFA_uc003owg.3_Nonsense_Mutation_p.R325*|VEGFA_uc003owe.3_Intron|VEGFA_uc021yzu.1_Nonsense_Mutation_p.R324*|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Intron|VEGFA_uc003owk.3_Intron	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	145					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	p.R325*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	AAAATCAGTTCGAGGAAAGGG	0.532													T	43748479	C	T	43748479	4	4	130	1	0	0	0	0	0	1	0	0	17147	876	31	2	995	2	VEGFA	6	43748479	Nonsense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	10114857	43748479	127366588	37	8710											
GPRC6A	222545	broad.mit.edu	37	6	117128089	117128089	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:117128089C>T	uc003pxj.1	-	2	801	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	GPRC6A_uc003pxk.1_Missense_Mutation_p.R260Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R260Q	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	260					response to amino acid stimulus		G-protein coupled receptor activity	p.R260W(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTCAGTGTCCGATTGATTCT	0.363													T	117128089	C	T	117128089	3	4	130	1	0	0	0	0	1	0	0	0	6728	652	23	2	2017	2	GPRC6A	6	117128089	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	73379610	117128089	53986978	38	8711											
LPA	4018	broad.mit.edu	37	6	161020531	161020531	+	Splice_Site	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:161020531C>T	uc003qtl.3	-	21	3407	c.3287_splice	c.e21+1	p.A1096_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3604	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAAGACGTACGCATTTGGGT	0.483													T	161020531	C	T	161020531	5	4	130	1	0	0	0	0	0	0	1	0	8903	550	19	1	2914	1	LPA	6	161020531	Splice_Site	SNP	C	TCGA-14-0789-01A-01W-0424-08	43892442	161020531	10094536	39	8712											
EGFR	1956	broad.mit.edu	37	7	55238870	55238870	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:55238870G>A	uc003tqk.3	+	15	2129	c.1883G>A	c.(1882-1884)tGc>tAc	p.C628Y	EGFR_uc022adm.1_Missense_Mutation_p.C628Y|EGFR_uc010kzg.2_Missense_Mutation_p.C583Y|EGFR_uc022adn.1_Missense_Mutation_p.C583Y|EGFR_uc011kco.2_Missense_Mutation_p.C575Y|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	628					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCTACAGATGCACTGGGCCA	0.393		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55238870	G	A	55238870	3	1	130	1	0	0	0	0	1	0	0	0	4967	1319	46	3	2209	3	EGFR	7	55238870	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		55238870	103899793	40	8713											
CALN1	83698	broad.mit.edu	37	7	71252851	71252851	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:71252851C>T	uc003twb.4	-	6	1086	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	CALN1_uc003twa.4_Missense_Mutation_p.R190Q|CALN1_uc003twc.4_Missense_Mutation_p.R190Q	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	190						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.R232Q(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GAGGCTCTTCCGGACGCAGGT	0.552													T	71252851	C	T	71252851	3	4	130	1	0	0	0	0	1	0	0	0	2591	652	23	2	94	2	CALN1	7	71252851	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	16013981	71252851	87885812	41	8714											
GRM3	2913	broad.mit.edu	37	7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:86415655C>T	uc003uid.3	+	2	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	GRM3_uc010lef.3_Missense_Mutation_p.R181C|GRM3_uc010leg.3_Missense_Mutation_p.R55C|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	183					synaptic transmission	integral to plasma membrane		p.R183C(2)|p.S182L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGATAAGTCGCGCTATGATTA	0.562													T	86415655	C	T	86415655	3	4	130	1	0	0	0	0	1	0	0	0	6798	768	27	1	553	1	GRM3	7	86415655	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	15162804	86415655	72723008	42	8715											
ABCB4	5244	broad.mit.edu	37	7	87092144	87092144	+	Silent	SNP	G	G	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:87092144G>T	uc003uiv.1	-	3	292	c.216C>A	c.(214-216)ccC>ccA	p.P72P	ABCB4_uc003uiw.1_Silent_p.P72P|ABCB4_uc003uix.1_Silent_p.P72P|ABCB4_uc003uiy.3_Silent_p.P72P	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	72	ABC transmembrane type-1 1.			IMAIAHGSGLP -> RGSSRVDLQAC (in Ref. 5; CAA84542).	cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCATCATGAGGGGGAGACCTG	0.383													T	87092144	G	T	87092144	2	4	130	1	0	0	0	0	0	0	0	1	43	1219	43	5		5	ABCB4	7	87092144	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	676489	87092144	72046519	43	8716											
AZGP1	563	broad.mit.edu	37	7	99569626	99569626	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:99569626C>T	uc003ush.3	-	1	172	c.80G>A	c.(79-81)cGt>cAt	p.R27H		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	27					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGAGAGTAACGACCTGCAAA	0.527													T	99569626	C	T	99569626	3	4	130	1	0	0	0	0	1	0	0	0	1239	536	19	1	828	1	AZGP1	7	99569626	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	12477482	99569626	59569037	44	8717											
ASB15	142685	broad.mit.edu	37	7	123269046	123269046	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:123269046A>G	uc003vku.1	+	9	1290	c.998A>G	c.(997-999)gAt>gGt	p.D333G	ASB15_uc003vkw.1_Missense_Mutation_p.D333G	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	333					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AATGGTTTTGATGTCAACACT	0.418													G	123269046	A	G	123269046	3	3	130	1	0	0	0	0	1	0	0	0	1019	333	12	4	1024	4	ASB15	7	123269046	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08	23699420	123269046	35869617	45	8718											
ALDH1A1	216	broad.mit.edu	37	9	75567900	75567900	+	Missense_Mutation	SNP	G	G	A	rs144704960		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:75567900G>A	uc004ajd.3	-	0	334	c.17C>T	c.(16-18)aCg>aTg	p.T6M	ALDH1A1_uc011lsh.2_Intron	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	6					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAAGTCTGGCGTGCCTGAGGA	0.418													A	75567900	G	A	75567900	3	1	130	1	0	0	0	0	1	0	0	0	490	1145	40	1	1540	1	ALDH1A1	9	75567900	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		75567900	65645531	46	8719											
OLFML2A	169611	broad.mit.edu	37	9	127566377	127566377	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:127566377C>T	uc004bov.3	+	5	1037	c.924C>T	c.(922-924)aaC>aaT	p.N308N	OLFML2A_uc010mwr.1_Silent_p.N272N|OLFML2A_uc004bow.3_Silent_p.N94N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	308										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTGCAGACAACACCCTCCAGG	0.637													T	127566377	C	T	127566377	2	4	130	1	0	0	0	0	0	0	0	1	10857	477	17	3		3	OLFML2A	9	127566377	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	51998477	127566377	13647054	47	8720											
DBH	1621	broad.mit.edu	37	9	136507481	136507481	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:136507481C>T	uc004cel.3	+	2	648	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	213					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	ACGCGTGCACCATGGAGGTCC	0.592													T	136507481	C	T	136507481	2	4	130	1	0	0	0	0	0	0	0	1	4250	581	21	3		3	DBH	9	136507481	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	8941104	136507481	4705950	48	8721											
OR52D1	390066	broad.mit.edu	37	11	5510222	5510222	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:5510222T>A	uc010qzg.2	+	0	308	c.286T>A	c.(286-288)Tcc>Acc	p.S96T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGAGATTTCCTTTGGTGG	0.498													A	5510222	T	A	5510222	3	1	130	1	0	0	0	0	1	0	0	0	11114	1783	62	5	288	5	OR52D1	11	5510222	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08		5510222	129496294	49	8722											
PRMT3	10196	broad.mit.edu	37	11	20448405	20448405	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:20448405G>A	uc001mqb.3	+	9	1204	c.987G>A	c.(985-987)gaG>gaA	p.E329E	PRMT3_uc001mqc.3_Silent_p.E252E|PRMT3_uc010rdn.2_Silent_p.E267E	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	329							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TCATATCTGAGTGGATGGTGA	0.254													A	20448405	G	A	20448405	2	1	130	1	0	0	0	0	0	0	0	1	12538	1020	36	3		3	PRMT3	11	20448405	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	14938183	20448405	114558111	50	8723											
TMPRSS4	56649	broad.mit.edu	37	11	117985881	117985881	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:117985881G>A	uc021qrd.1	+	10	1329	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Silent_p.A341A|TMPRSS4_uc010rxo.2_Silent_p.A344A|TMPRSS4_uc010rxs.2_Silent_p.A306A|TMPRSS4_uc010rxq.2_Silent_p.A199A|TMPRSS4_uc010rxr.2_Silent_p.A321A|TMPRSS4_uc010rxt.2_Silent_p.A321A	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	346	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGCTGCAGGCGTCAGTCCAGG	0.552													A	117985881	G	A	117985881	2	1	130	1	0	0	0	0	0	0	0	1	16246	1132	40	1		1	TMPRSS4	11	117985881	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	97537476	117985881	17020635	51	8724											
TECTA	7007	broad.mit.edu	37	11	120998873	120998873	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:120998873C>T	uc010rzo.2	+	7	2187	c.2187C>T	c.(2185-2187)taC>taT	p.Y729Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	729	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.Y729Y(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGCCTCCTACGCCTTCCCCT	0.622													T	120998873	C	T	120998873	2	4	130	1	0	0	0	0	0	0	0	1	15744	547	19	1		1	TECTA	11	120998873	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	3012992	120998873	14007643	52	8725											
C12orf77	196415	broad.mit.edu	37	12	25148921	25148921	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:25148921C>T	uc001rgf.3	-	2	432	c.227G>A	c.(226-228)cGa>cAa	p.R76Q		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	76										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGGCATCCATCGTATGCTGTC	0.502													T	25148921	C	T	25148921	3	4	130	1	0	0	0	0	1	0	0	0	1716	884	31	2	218	2	C12orf77	12	25148921	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		25148921	108702974	53	8726											
ACVRL1	94	broad.mit.edu	37	12	52309923	52309923	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:52309923G>A	uc001rzj.3	+	7	1435	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q	ACVRL1_uc001rzk.3_Silent_p.Q384Q|ACVRL1_uc010snm.2_Silent_p.Q210Q	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	384	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.E383K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGGACGAGCAGATCCGCACGG	0.602													A	52309923	G	A	52309923	2	1	130	1	0	0	0	0	0	0	0	1	225	933	33	3		3	ACVRL1	12	52309923	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	27161002	52309923	81541972	54	8727											
ESPL1	9700	broad.mit.edu	37	12	53687195	53687195	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:53687195C>T	uc001sck.2	+	30	6391	c.6300C>T	c.(6298-6300)ccC>ccT	p.P2100P	ESPL1_uc001scj.2_Silent_p.P1775P|PFDN5_uc001scl.3_5'Flank|PFDN5_uc001scm.3_5'Flank|PFDN5_uc001scn.3_5'Flank|PFDN5_uc001sco.3_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	2100					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCAAGCTCCCCGACTCAAGT	0.567													T	53687195	C	T	53687195	2	4	130	1	0	0	0	0	0	0	0	1	5253	610	22	3		3	ESPL1	12	53687195	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	1377272	53687195	80164700	55	8728											
SRRM4	84530	broad.mit.edu	37	12	119568488	119568488	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:119568488G>A	uc001txa.2	+	7	1008	c.620G>A	c.(619-621)cGc>cAc	p.R207H		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	207	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	p.R207H(2)|p.R207C(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGGCACCGCGGCCGGTCC	0.622													A	119568488	G	A	119568488	3	1	130	1	0	0	0	0	1	0	0	0	15170	1087	38	1	650	1	SRRM4	12	119568488	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	65881293	119568488	14283407	56	8729											
CIT	11113	broad.mit.edu	37	12	120138625	120138625	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:120138625C>T	uc001txj.2	-	43	5604	c.5548G>A	c.(5548-5550)Gga>Aga	p.G1850R	CIT_uc001txh.2_Missense_Mutation_p.G1327R|CIT_uc001txi.2_Missense_Mutation_p.G1808R	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1808	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACGAACACTCCAAATTCTGCA	0.547													T	120138625	C	T	120138625	3	4	130	1	0	0	0	0	1	0	0	0	3438	603	21	3	681	3	CIT	12	120138625	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	570137	120138625	13713270	57	8730											
PAN3	255967	broad.mit.edu	37	13	28794510	28794510	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr13:28794510C>T	uc001urz.3	+	5	1147	c.995C>T	c.(994-996)gCg>gTg	p.A332V	PAN3_uc010tdo.1_Missense_Mutation_p.A332V|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.A132V	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	332	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTGGATTAGCGCCAGGTAAG	0.423													T	28794510	C	T	28794510	3	4	130	1	0	0	0	0	1	0	0	0	11415	768	27	1	1017	1	PAN3	13	28794510	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		28794510	86375368	58	8731											
TRIP11	9321	broad.mit.edu	37	14	92470681	92470681	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:92470681C>T	uc001xzy.3	-	10	4013	c.3639G>A	c.(3637-3639)aaG>aaA	p.K1213K	TRIP11_uc010auf.2_Silent_p.K949K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1213					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	p.K1213N(2)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCTGTTTTAACTTGTCACGTT	0.428			T	PDGFRB	AML								T	92470681	C	T	92470681	2	4	130	1	0	0	0	0	0	0	0	1	16552	564	20	3		3	TRIP11	14	92470681	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08		92470681	14878859	59	8732											
PRIMA1	145270	broad.mit.edu	37	14	94203651	94203651	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:94203651C>T	uc001ybw.1	-	3	337	c.295G>A	c.(295-297)Gta>Ata	p.V99I	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	99					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCACAGCATACGGCAATGATG	0.532													T	94203651	C	T	94203651	3	4	130	1	0	0	0	0	1	0	0	0	12492	536	19	1	174	1	PRIMA1	14	94203651	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	1732970	94203651	13145889	60	8733											
AKT1	207	broad.mit.edu	37	14	105241276	105241276	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:105241276G>A	uc001ypk.3	-	7	1187	c.633_splice	c.e7+1	p.T211_splice	AKT1_uc001ypl.3_Splice_Site_p.T211_splice|AKT1_uc010axa.3_Splice_Site_p.T211_splice|AKT1_uc001ypm.3_Splice_Site_p.T211_splice|AKT1_uc001ypn.3_Splice_Site_p.T211_splice|AKT1_uc010tyk.2_Splice_Site_p.T149_splice	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	211	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CCCACTCACTGTGAGGAAGGG	0.647		1	Mis		"breast, colorectal, ovarian, NSCLC"								A	105241276	G	A	105241276	3	1	130	1	0	0	0	0	1	0	0	0	478	1391	48	3	842	3	AKT1	14	105241276	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	11037625	105241276	2108264	61	8734											
GABRB3	2562	broad.mit.edu	37	15	26793162	26793162	+	Silent	SNP	G	G	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:26793162G>T	uc001zbb.3	-	9	1471	c.1368C>A	c.(1366-1368)atC>atA	p.I456I	GABRB3_uc021sgg.1_Silent_p.I329I|GABRB3_uc021sgh.1_Silent_p.I315I|GABRB3_uc001zaz.3_Silent_p.I400I|GABRB3_uc001zba.3_Silent_p.I400I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	400					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.V455L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCTGTACTGGATTCCTGAGT	0.512													T	26793162	G	T	26793162	2	4	130	1	0	0	0	0	0	0	0	1	6168	1164	41	5		5	GABRB3	15	26793162	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08		26793162	75738230	62	8735											
OTUD7A	161725	broad.mit.edu	37	15	31776752	31776752	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:31776752C>T	uc001zfq.3	-	10	1619	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	OTUD7A_uc001zfr.3_Missense_Mutation_p.R516H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	509						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGAGTCGGCGCGCGTcttgtc	0.592													T	31776752	C	T	31776752	3	4	130	1	0	0	0	0	1	0	0	0	11318	768	27	1	1258	1	OTUD7A	15	31776752	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	4983590	31776752	70754640	63	8736											
RYR3	6263	broad.mit.edu	37	15	33765674	33765674	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:33765674T>A	uc001zhi.3	+	1	176	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	RYR3_uc010bar.3_Missense_Mutation_p.F36I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	36					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)		GCAGAGGAAGTTCTGCCTGGC	0.547													A	33765674	T	A	33765674	3	1	130	1	0	0	0	0	1	0	0	0	13770	1725	60	5	112	5	RYR3	15	33765674	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	1988922	33765674	68765718	64	8737											
DUOX2	50506	broad.mit.edu	37	15	45386398	45386398	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:45386398C>T	uc001zun.3	-	33	4800	c.4597G>A	c.(4597-4599)Gtc>Atc	p.V1533I	DUOX2_uc010bea.3_Missense_Mutation_p.V1533I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1533					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGCCTGTTGACGAGCTGACAG	0.572													T	45386398	C	T	45386398	3	4	130	1	0	0	0	0	1	0	0	0	4801	536	19	1	53	1	DUOX2	15	45386398	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	11620724	45386398	57144994	65	8738											
CACNA1H	8912	broad.mit.edu	37	16	1262094	1262094	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:1262094G>A	uc002cks.3	+	24	4963	c.4715G>A	c.(4714-4716)cGg>cAg	p.R1572Q	CACNA1H_uc002ckt.3_Missense_Mutation_p.R1572Q|CACNA1H_uc002cku.3_Missense_Mutation_p.R278Q|CACNA1H_uc010brj.3_Missense_Mutation_p.R278Q|CACNA1H_uc002ckv.3_Missense_Mutation_p.R278Q	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1572					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAGGCGCGGCGGCGAGAGGAG	0.682													A	1262094	G	A	1262094	3	1	130	1	0	0	0	0	1	0	0	0	2545	1116	39	2	4809	2	CACNA1H	16	1262094	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		1262094	89092659	66	8739											
PAQR4	124222	broad.mit.edu	37	16	3021625	3021625	+	Silent	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:3021625C>A	uc002csj.4	+	2	832	c.498C>A	c.(496-498)acC>acA	p.T166T	PAQR4_uc002csk.4_Silent_p.T127T|PAQR4_uc002csl.4_Silent_p.T92T|PAQR4_uc010uwm.2_Silent_p.T97T	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	166						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GTGCTCTCACCGCCCCCTCCA	0.697													A	3021625	C	A	3021625	2	1	130	1	0	0	0	0	0	0	0	1	11437	639	23	5		5	PAQR4	16	3021625	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	1759531	3021625	87333128	67	8740											
ZP2	7783	broad.mit.edu	37	16	21213466	21213466	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:21213466G>A	uc010bwn.1	-	10	1445	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	ZP2_uc002dii.2_Missense_Mutation_p.R416W	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	416	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ATGTGGAACCGTACCAGCCCC	0.507													A	21213466	G	A	21213466	3	1	130	1	0	0	0	0	1	0	0	0	18213	1144	40	1	1027	1	ZP2	16	21213466	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	18191841	21213466	69141287	68	8741											
NF1	4763	broad.mit.edu	37	17	29556481	29556481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr17:29556481C>T	uc002hgg.3	+	20	3231	c.2848C>T	c.(2848-2850)Cag>Tag	p.Q950*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q950*|NF1_uc010csn.2_Nonsense_Mutation_p.Q810*|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	950					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.G949fs*5(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCCAAGGACAGGTAAAGTG	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29556481	C	T	29556481	4	4	130	1	0	0	0	0	0	1	0	0	10356	479	17	3	2991	3	NF1	17	29556481	Nonsense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		29556481	51638729	69	8742											
MARCH10	162333	broad.mit.edu	37	17	60865912	60865912	+	Missense_Mutation	SNP	G	G	A	rs146312903	byFrequency	TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr17:60865912G>A	uc010dds.3	-	2	424	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	MARCH10_uc010ddr.3_Missense_Mutation_p.R47C|MARCH10_uc002jag.4_Missense_Mutation_p.R47C|MARCH10_uc002jah.2_Missense_Mutation_p.R47C	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	47							ligase activity|zinc ion binding	p.R47R(1)|p.R47H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AACTGATCGCGTTTCTTCTCA	0.443													A	60865912	G	A	60865912	3	1	130	1	0	0	0	0	1	0	0	0	9299	1145	40	1	2323	1	MARCH10	17	60865912	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	31309431	60865912	20329298	70	8743											
POTEC	388468	broad.mit.edu	37	18	14542738	14542738	+	Silent	SNP	A	A	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:14542738A>G	uc010dln.3	-	0	862	c.408T>C	c.(406-408)cgT>cgC	p.R136R	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	136										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GATCTTCTCGACGGACGTGGT	0.607													G	14542738	A	G	14542738	2	3	130	1	0	0	0	0	0	0	0	1	12262	262	10	4		4	POTEC	18	14542738	Silent	SNP	A	TCGA-14-0789-01A-01W-0424-08		14542738	63534510	71	8744											
ZNF532	55205	broad.mit.edu	37	18	56587754	56587754	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:56587754C>T	uc010xeg.2	+	2	2432	c.2235C>T	c.(2233-2235)gaC>gaT	p.D745D	ZNF532_uc002lhp.3_Silent_p.D743D|ZNF532_uc002lho.3_Silent_p.D745D|ZNF532_uc002lhr.3_Silent_p.D743D|ZNF532_uc002lhs.3_Silent_p.D743D	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TAGATGAAGACCCCTCCAAAC	0.483													T	56587754	C	T	56587754	2	4	130	1	0	0	0	0	0	0	0	1	17969	506	18	3		3	ZNF532	18	56587754	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	42045016	56587754	21489494	72	8745											
ZNF516	9658	broad.mit.edu	37	18	74154336	74154336	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:74154336G>A	uc021ulp.1	-	2	993	c.675C>T	c.(673-675)acC>acT	p.T225T		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCCTGCGCGGTGATGTGGT	0.697													A	74154336	G	A	74154336	2	1	130	1	0	0	0	0	0	0	0	1	17957	1103	39	2		2	ZNF516	18	74154336	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	17566582	74154336	3922912	73	8746											
ACTL9	284382	broad.mit.edu	37	19	8807821	8807821	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:8807821C>T	uc002mkl.2	-	0	1352	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	411						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TTGCGGTACACGATATAGGGA	0.632													T	8807821	C	T	8807821	3	4	130	1	0	0	0	0	1	0	0	0	203	536	19	1	23	1	ACTL9	19	8807821	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		8807821	50321162	74	8747											
LDLR	3949	broad.mit.edu	37	19	11224366	11224366	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:11224366G>C	uc002mqk.4	+	9	1701	c.1514G>C	c.(1513-1515)gGc>gCc	p.G505A	LDLR_uc010xlk.2_Missense_Mutation_p.G505A|LDLR_uc010xll.2_Missense_Mutation_p.G464A|LDLR_uc021upc.1_Missense_Mutation_p.G384A|LDLR_uc010xln.2_Missense_Mutation_p.G378A|LDLR_uc010xlo.2_Missense_Mutation_p.G337A|LDLR_uc010xlm.2_Missense_Mutation_p.G358A|LDLR_uc021upd.1_Missense_Mutation_p.G242A	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	505					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.K504R(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GATACCAAGGGCGTGAAGAGG	0.592													C	11224366	G	C	11224366	3	2	130	1	0	0	0	0	1	0	0	0	8704	1203	42	5	1552	5	LDLR	19	11224366	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	2416545	11224366	47904617	75	8748											
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:12575498G>A	uc002mtv.4	-	3	1399	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_uc002mtw.4_Missense_Mutation_p.T381I|ZNF709_uc002mtx.4_Missense_Mutation_p.T413I	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)|p.R412I(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													A	12575498	G	A	12575498	3	1	130	1	0	0	0	0	1	0	0	0	18110	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	1351132	12575498	46553485	76	8749											
GIPC1	10755	broad.mit.edu	37	19	14591540	14591540	+	Silent	SNP	C	C	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:14591540C>G	uc002myt.3	-	4	609	c.339G>C	c.(337-339)ctG>ctC	p.L113L	GIPC1_uc002myv.3_Silent_p.L16L|GIPC1_uc002myu.3_Silent_p.L113L|GIPC1_uc002myw.3_Silent_p.L16L|GIPC1_uc002myx.3_Silent_p.L113L|GIPC1_uc002myy.3_Silent_p.L16L	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	113					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCTGGCCCCCCAGGAGCTTGT	0.612											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	14591540	C	G	14591540	2	3	130	1	0	0	0	0	0	0	0	1	6392	581	21	5		5	GIPC1	19	14591540	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	2016042	14591540	44537443	77	8750											
ZNF546	339327	broad.mit.edu	37	19	40521654	40521656	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:40521654_40521656delATC	uc002oms.2	+	6	2733_2735	c.2477_2479delATC	c.(2476-2481)aatcat>aat	p.H827del	ZNF546_uc002omt.2_In_Frame_Del_p.H801del	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATCAGAGAAATCATATTAGTGA	0.33													-	40521656	ATC	-	40521654	7	5	130	1	0	1	0	1	0	0	0	0	17975	101	4	0	2495	0	ZNF546	19	40521654	In_Frame_Del	DEL	ATC	TCGA-14-0789-01A-01W-0424-08	25930114	40521654	18607329	78	8751											
TSKS	60385	broad.mit.edu	37	19	50243159	50243159	+	Silent	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:50243159G>A	uc002ppm.3	-	10	1664	c.1653C>T	c.(1651-1653)caC>caT	p.H551H		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	551							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACATCTTCAAGTGTAGATGGT	0.592													A	50243159	G	A	50243159	2	1	130	1	0	0	0	0	0	0	0	1	16623	1020	36	3		3	TSKS	19	50243159	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	9721505	50243159	8885824	79	8752											
FCAR	2204	broad.mit.edu	37	19	55385635	55385635	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:55385635C>T	uc002qhr.1	+	0					FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_5'UTR|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_5'UTR|FCAR_uc010esi.1_5'UTR|FCAR_uc002qhu.1_5'UTR|FCAR_uc002qhv.1_5'UTR|FCAR_uc002qhw.1_5'UTR|FCAR_uc002qhx.1_5'UTR|FCAR_uc002qhy.1_5'UTR|FCAR_uc002qhz.1_5'UTR|FCAR_uc002qia.1_5'UTR	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AATTCCCTGACGAGGGGCTCT	0.498													T	55385635	C	T	55385635	1	4	130	1	0	0	0	0	0	0	0	0	5773	551	19	1		1	FCAR	19	55385635	Translation_Start_Site	SNP	C	TCGA-14-0789-01A-01W-0424-08	5142476	55385635	3743348	80	8753											
PTPRA	5786	broad.mit.edu	37	20	2969091	2969091	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:2969091G>A	uc010zqd.2	+	7	1059	c.742G>A	c.(742-744)Gac>Aac	p.D248N	PTPRA_uc002whj.3_Missense_Mutation_p.D237N|PTPRA_uc010zqc.1_Missense_Mutation_p.D122N|PTPRA_uc002whk.3_Missense_Mutation_p.D228N|PTPRA_uc002whl.3_Missense_Mutation_p.D228N|PTPRA_uc002whm.3_Missense_Mutation_p.D4N|PTPRA_uc002whn.3_Missense_Mutation_p.D228N|PTPRA_uc002who.3_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	237	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.D237N(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATGGCAGACGACAATAAGCT	0.507													A	2969091	G	A	2969091	3	1	130	1	0	0	0	0	1	0	0	0	12795	1058	37	2	731	2	PTPRA	20	2969091	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		2969091	60056429	81	8754											
RBPJL	11317	broad.mit.edu	37	20	43936814	43936814	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:43936814C>A	uc002xns.3	+	1	126	c.54C>A	c.(52-54)caC>caA	p.H18Q	MATN4_uc002xnp.2_Intron|MATN4_uc002xnn.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_Splice_Site|RBPJL_uc002xnt.3_Missense_Mutation_p.H18Q	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	18					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTTTGACTCACCTGAGCCTGC	0.627													A	43936814	C	A	43936814	3	1	130	1	0	0	0	0	1	0	0	0	13162	521	18	5	60	5	RBPJL	20	43936814	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	40967723	43936814	19088706	82	8755											
NCOA5	57727	broad.mit.edu	37	20	44698964	44698964	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:44698964C>T	uc002xrd.3	-	1	778	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	NCOA5_uc002xrc.3_5'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.V84M	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	84	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGATCCCTCACGTCCCGAACG	0.532													T	44698964	C	T	44698964	3	4	130	1	0	0	0	0	1	0	0	0	10232	536	19	1	1513	1	NCOA5	20	44698964	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	762150	44698964	18326556	83	8756											
TLR7	51284	broad.mit.edu	37	X	12904281	12904281	+	Silent	SNP	C	C	T			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:12904281C>T	uc004cvc.3	+	2	793	c.654C>T	c.(652-654)gcC>gcT	p.A218A		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	218					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			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)	ATGTCACAGCCGTCCCTACTG	0.343													T	12904281	C	T	12904281	2	4	130	1	0	0	0	0	0	0	0	1	15953	639	23	2		2	TLR7	23	12904281	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08		12904281	142366279	84	8757											
ZRSR2	8233	broad.mit.edu	37	X	15840971	15840971	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:15840971G>A	uc004cxg.4	+	10	1100	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.	352					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TCTCCAGATCGGACTGGCTCC	0.502			"F, S, Mis"		"MDS, CLL"								A	15840971	G	A	15840971	3	1	130	1	0	0	0	0	1	0	0	0	18222	1116	39	2	1097	2	ZRSR2	23	15840971	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	2936690	15840971	139429589	85	8758											
POF1B	79983	broad.mit.edu	37	X	84634327	84634327	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:84634327T>G	uc004eer.2	-	1	279	c.133A>C	c.(133-135)Aaa>Caa	p.K45Q	POF1B_uc004ees.3_Missense_Mutation_p.K45Q	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	45							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTACATTTTTTTCTGGAGGC	0.577													G	84634327	T	G	84634327	3	3	130	1	0	0	0	0	1	0	0	0	12182	1850	64	5	1700	5	POF1B	23	84634327	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	68793356	84634327	70636233	86	8759											
THOC2	57187	broad.mit.edu	37	X	122748018	122748020	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:122748018_122748020delGGA	uc004etu.3	-	33	4364_4366	c.4332_4334delTCC	c.(4330-4335)cctcca>cca	p.1444_1445PP>P	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_In_Frame_Del_p.265_266PP>P	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1444	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGACAGTGGTGGAGGAGTATGAT	0.355													-	122748020	GGA	-	122748018	7	5	130	1	0	1	0	1	0	0	0	0	15862	1348	47	0	467	0	THOC2	23	122748018	In_Frame_Del	DEL	GGA	TCGA-14-0789-01A-01W-0424-08	38113691	122748018	32522542	87	8760											
STAG2	10735	broad.mit.edu	37	X	123176470	123176471	+	Frame_Shift_Ins	INS	-	-	A			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:123176470_123176471insA	uc004eua.3	+	6	841_842	c.437_438insA	c.(436-438)cgafs	p.R146fs	STAG2_uc004etz.4_Frame_Shift_Ins_p.R146fs|STAG2_uc004eub.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004euc.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004eud.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004eue.3_Frame_Shift_Ins_p.R146fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	146					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GAGATAATTCGAAAAATGACTG	0.287													A	123176471	-	A	123176470	7	5	130	1	0	1	1	0	0	0	0	0	15242	1058	37	0	455	0	STAG2	23	123176470	Frame_Shift_Ins	INS	-	TCGA-14-0789-01A-01W-0424-08	428452	123176470	32094090	88	8761											
ZCCHC17	51538	broad.mit.edu	37	1	31810124	31810125	+	Splice_Site	INS	-	-	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:31810124_31810125insA	uc001bsp.1	+	4	361	c.225_splice	c.e4+2	p.E75_splice	ZCCHC17_uc001bsq.1_Splice_Site_p.E67_splice|ZCCHC17_uc010ogf.1_Splice_Site_p.E51_splice|ZCCHC17_uc009vtu.1_Splice_Site_p.E51_splice|ZCCHC17_uc001bsr.1_Splice_Site_p.E75_splice|ZCCHC17_uc009vtv.1_Splice_Site_p.E51_splice	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.	75	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GGCCGAGAGGTAAAGTTCTGTG	0.426													A	31810125	-	A	31810124	8	5	131	1	0	1	1	0	0	0	1	0	17582	1652	57	0	237	0	ZCCHC17	1	31810124	Splice_Site	INS	-	TCGA-14-0790-01B-01D-1494-08		31810124	217440497	1	8762											
RPL5	6125	broad.mit.edu	37	1	93300358	93300358	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:93300358G>A	uc001doz.3	+	3	290	c.212G>A	c.(211-213)gGg>gAg	p.G71E	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.G21E|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	71					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CGTATAGAGGGGGATATGATA	0.413													A	93300358	G	A	93300358	3	1	131	1	0	0	0	0	1	0	0	0	13597	1232	43	3	226	3	RPL5	1	93300358	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	61490234	93300358	155950263	2	8763											
BCAR3	8412	broad.mit.edu	37	1	94032953	94032953	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:94032953C>T	uc001dpz.3	-	10	2457	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	BCAR3_uc001dqa.3_Missense_Mutation_p.D728N|BCAR3_uc001dqb.3_Missense_Mutation_p.D728N|BCAR3_uc001dpx.4_Missense_Mutation_p.D404N|BCAR3_uc001dpy.3_Missense_Mutation_p.D637N	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	728	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCCCACATGTCGGTTCCTTCA	0.512													T	94032953	C	T	94032953	3	4	131	1	0	0	0	0	1	0	0	0	1349	884	31	2	303	2	BCAR3	1	94032953	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	732595	94032953	155217668	3	8764											
S1PR1	1901	broad.mit.edu	37	1	101705315	101705317	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:101705315_101705317delATT	uc021oqt.1	+	0	775_777	c.775_777delATT	c.(775-777)attdel	p.I260del	S1PR1_uc001dud.2_In_Frame_Del_p.I260del|S1PR1_uc009weg.2_In_Frame_Del_p.I260del	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	260					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I260I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CAAGACCGTAATTATCGTCCTGA	0.591													-	101705317	ATT	-	101705315	7	5	131	1	0	1	0	1	0	0	0	0	13793	101	4	0	777	0	S1PR1	1	101705315	In_Frame_Del	DEL	ATT	TCGA-14-0790-01B-01D-1494-08	7672362	101705315	147545306	4	8765											
CD58	965	broad.mit.edu	37	1	117078713	117078713	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:117078713G>A	uc001egm.3	-	2	623	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.R168C|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Missense_Mutation_p.R168C	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	168	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTTGAGTTACGTTTACATTGC	0.343													A	117078713	G	A	117078713	3	1	131	1	0	0	0	0	1	0	0	0	3025	1145	40	1	270	1	CD58	1	117078713	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	15373398	117078713	132171908	5	8766											
SPAG17	200162	broad.mit.edu	37	1	118623774	118623774	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:118623774A>T	uc001ehk.2	-	14	2227	c.2159T>A	c.(2158-2160)cTg>cAg	p.L720Q	SPAG17_uc021oss.1_Missense_Mutation_p.L41Q	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	720						cilium|flagellar axoneme|microtubule				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)		CTGCTCTAACAGCTGTCTATT	0.443													T	118623774	A	T	118623774	3	4	131	1	0	0	0	0	1	0	0	0	14979	188	7	5	4648	5	SPAG17	1	118623774	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	1545061	118623774	130626847	6	8767											
SPAG17	200162	broad.mit.edu	37	1	118628591	118628591	+	Silent	SNP	A	A	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:118628591A>C	uc001ehk.2	-	12	1784	c.1716T>G	c.(1714-1716)acT>acG	p.T572T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	572						cilium|flagellar axoneme|microtubule				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)		CTAGACGTTTAGTGTTGTTCC	0.388													C	118628591	A	C	118628591	2	2	131	1	0	0	0	0	0	0	0	1	14979	407	15	5		5	SPAG17	1	118628591	Silent	SNP	A	TCGA-14-0790-01B-01D-1494-08	4817	118628591	130622030	7	8768											
SPTA1	6708	broad.mit.edu	37	1	158655079	158655079	+	Missense_Mutation	SNP	C	C	T	rs121918641		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:158655079C>T	uc001fst.1	-	1	282	c.83G>A	c.(82-84)cGt>cAt	p.R28H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	28			R -> C (in EL2).|R -> H (in EL2; Corbeil; dbSNP:rs28934004).|R -> L (in EL2).|R -> S (in EL2; dbSNP:rs28934005).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTTCCTGACGCCTCTCCTG	0.458													T	158655079	C	T	158655079	3	4	131	1	0	0	0	0	1	0	0	0	15115	536	19	1	7380	1	SPTA1	1	158655079	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	40026488	158655079	90595542	8	8769											
LEFTY2	7044	broad.mit.edu	37	1	226127121	226127121	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:226127121G>A	uc001hpt.2	-	2	920	c.677C>T	c.(676-678)gCg>gTg	p.A226V	LEFTY2_uc010pvk.2_Missense_Mutation_p.A192V|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	226					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCCGGCTGGCGCCCCCTGCGA	0.701													A	226127121	G	A	226127121	3	1	131	1	0	0	0	0	1	0	0	0	8716	1087	38	1	431	1	LEFTY2	1	226127121	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	67472042	226127121	23123500	9	8770											
KIDINS220	57498	broad.mit.edu	37	2	8943255	8943255	+	Silent	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:8943255A>G	uc002qzc.2	-	7	788	c.606T>C	c.(604-606)aaT>aaC	p.N202N	KIDINS220_uc010yiv.1_Silent_p.N11N|KIDINS220_uc002qzd.2_Silent_p.N160N|KIDINS220_uc010yiw.1_Silent_p.N203N	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	202					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCATTGAATTCTAAAAAC	0.299													G	8943255	A	G	8943255	2	3	131	1	0	0	0	0	0	0	0	1	8271	98	4	4		4	KIDINS220	2	8943255	Silent	SNP	A	TCGA-14-0790-01B-01D-1494-08		8943255	234256118	10	8771											
IL18RAP	8807	broad.mit.edu	37	2	103068411	103068411	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:103068411C>T	uc002tbx.3	+	11	2054	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	IL18RAP_uc010fiz.3_Missense_Mutation_p.P382S	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	524	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.P524S(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGAGTCTCTACCTCATCTCGT	0.418													T	103068411	C	T	103068411	3	4	131	1	0	0	0	0	1	0	0	0	7648	507	18	3	1608	3	IL18RAP	2	103068411	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	94125156	103068411	140130962	11	8772											
LIMS1	3987	broad.mit.edu	37	2	109292448	109292448	+	Silent	SNP	C	C	T	rs111779374		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:109292448C>T	uc002teg.3	+	5	738	c.609C>T	c.(607-609)cgC>cgT	p.R203R	LIMS1_uc002tel.3_Silent_p.R215R|LIMS1_uc002teh.3_Silent_p.R203R|LIMS1_uc002tei.3_Silent_p.R207R|LIMS1_uc002tej.3_Silent_p.R240R|LIMS1_uc002tek.4_Silent_p.R265R	NM_004987	NP_004978	P48059	LIMS1_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA.	203	LIM zinc-binding 4.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TCGAAGGGCGCGTGGTGAACG	0.537													T	109292448	C	T	109292448	2	4	131	1	0	0	0	0	0	0	0	1	8803	755	27	1		1	LIMS1	2	109292448	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	6224037	109292448	133906925	12	8773											
DPP10	57628	broad.mit.edu	37	2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:116447456G>A	uc002tle.3	+	6	568	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	DPP10_uc002tla.2_Missense_Mutation_p.V179I|DPP10_uc002tlb.2_Missense_Mutation_p.V129I|DPP10_uc002tlc.2_Missense_Mutation_p.V175I|DPP10_uc002tlf.2_Missense_Mutation_p.V172I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	179					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438													A	116447456	G	A	116447456	3	1	131	1	0	0	0	0	1	0	0	0	4727	1145	40	1	732	1	DPP10	2	116447456	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	7155008	116447456	126751917	13	8774											
CYP8B1	1582	broad.mit.edu	37	3	42916850	42916850	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:42916850C>T	uc003cmh.3	-	0	784	c.459G>A	c.(457-459)acG>acA	p.T153T	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	153					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGCCTTTGGACGTCAGCATTA	0.512													T	42916850	C	T	42916850	2	4	131	1	0	0	0	0	0	0	0	1	4198	523	19	1		1	CYP8B1	3	42916850	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08		42916850	155105580	14	8775											
MYLK	4638	broad.mit.edu	37	3	123376130	123376130	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:123376130C>T	uc003ego.3	-	23	4413	c.4131G>A	c.(4129-4131)acG>acA	p.T1377T	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.T177T|MYLK_uc011bjw.2_Silent_p.T1377T|MYLK_uc003egp.3_Silent_p.T1308T|MYLK_uc003egq.3_Silent_p.T1377T|MYLK_uc003egr.3_Silent_p.T1308T|MYLK_uc003egs.3_Silent_p.T1201T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1377	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			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)		GTTCCTTCCACGTCTTGTTGG	0.542													T	123376130	C	T	123376130	2	4	131	1	0	0	0	0	0	0	0	1	10056	523	19	1		1	MYLK	3	123376130	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	80459280	123376130	74646300	15	8776											
RTP1	132112	broad.mit.edu	37	3	186917604	186917604	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:186917604C>T	uc003frg.3	+	1	568	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	180					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGCCAGCCGCCAGGACAA	0.682													T	186917604	C	T	186917604	3	4	131	1	0	0	0	0	1	0	0	0	13733	652	23	2	544	2	RTP1	3	186917604	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	63541474	186917604	11104826	16	8777											
HPSE	10855	broad.mit.edu	37	4	84223384	84223384	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr4:84223384C>T	uc003hoj.4	-	9	1343	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	HPSE_uc003hoi.3_Missense_Mutation_p.G357D|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.G158D|HPSE_uc003hok.4_Missense_Mutation_p.G415D|HPSE_uc011cct.2_Missense_Mutation_p.G341D	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	415					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CACCTTGGTGCCCACCAATTT	0.403													T	84223384	C	T	84223384	3	4	131	1	0	0	0	0	1	0	0	0	7344	739	26	3	399	3	HPSE	4	84223384	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		84223384	106930892	17	8778											
ZFP42	132625	broad.mit.edu	37	4	188924752	188924752	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr4:188924752C>T	uc003izh.1	+	3	1199	c.791C>T	c.(790-792)aCg>aTg	p.T264M	ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc021xvm.1_Missense_Mutation_p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	264					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATTTGCGTACGCACGTGCGC	0.483													T	188924752	C	T	188924752	3	4	131	1	0	0	0	0	1	0	0	0	17647	536	19	1	793	1	ZFP42	4	188924752	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	104701368	188924752	2229524	18	8779											
AHRR	57491	broad.mit.edu	37	5	422883	422883	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:422883G>A	uc003jav.3	+	5	536	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	AHRR_uc003jaw.3_Missense_Mutation_p.V165M|AHRR_uc010isy.3_Missense_Mutation_p.V11M|AHRR_uc010isz.3_Missense_Mutation_p.V161M|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Missense_Mutation_p.V21M	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	165	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			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)			CTACATCCACGTGGACGACCG	0.547													A	422883	G	A	422883	3	1	131	1	0	0	0	0	1	0	0	0	417	1145	40	1	515	1	AHRR	5	422883	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		422883	180492377	19	8780											
MAP3K1	4214	broad.mit.edu	37	5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:56160697C>T	uc003jqw.4	+	3	1472	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	324					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468													T	56160697	C	T	56160697	3	4	131	1	0	0	0	0	1	0	0	0	9243	681	24	3	985	3	MAP3K1	5	56160697	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	55737814	56160697	124754563	20	8781											
PIK3R1	5295	broad.mit.edu	37	5	67576379	67576379	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:67576379A>T	uc003jva.3	+	5	1238	c.658A>T	c.(658-660)Att>Ttt	p.I220F		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	220	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAAGAATATATTCAGCTATT	0.343			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			T	67576379	A	T	67576379	3	4	131	1	0	0	0	0	1	0	0	0	11918	449	16	5	676	5	PIK3R1	5	67576379	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	11415682	67576379	113338881	21	8782											
ZNF608	57507	broad.mit.edu	37	5	123984804	123984804	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:123984804C>A	uc003ktq.1	-	3	1456	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D425Y|ZNF608_uc003ktt.1_Missense_Mutation_p.D425Y	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	425						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATCTCCAGGTCACTTGTCGGT	0.552													A	123984804	C	A	123984804	3	1	131	1	0	0	0	0	1	0	0	0	18031	826	29	5	3289	5	ZNF608	5	123984804	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	56408425	123984804	56930456	22	8783											
FBXO38	81545	broad.mit.edu	37	5	147781654	147781654	+	Silent	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:147781654G>A	uc003lpf.1	+	3	492	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_uc003lpg.1_Silent_p.E124E|FBXO38_uc003lph.2_Silent_p.E124E	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	124						cytoplasm|nucleus			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)			GGGGCCATGAGGCTTTTAGCA	0.448													A	147781654	G	A	147781654	2	1	131	1	0	0	0	0	0	0	0	1	5746	991	35	3		3	FBXO38	5	147781654	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	23796850	147781654	33133606	23	8784											
NDUFAF4	29078	broad.mit.edu	37	6	97344693	97344693	+	Missense_Mutation	SNP	C	C	T	rs142963790		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:97344693C>T	uc003pow.3	-	1	257	c.167G>A	c.(166-168)cGt>cAt	p.R56H	NDUFAF4_uc003pov.3_Non-coding_Transcript	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 (NDUFAF4), nuclear gene encoding mitochondrial protein, mRNA.	56					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TTCATCTTTACGAGCAATCTC	0.333													T	97344693	C	T	97344693	3	4	131	1	0	0	0	0	1	0	0	0	10277	536	19	1	368	1	NDUFAF4	6	97344693	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		97344693	73770374	24	8785											
GRM1	2911	broad.mit.edu	37	6	146755476	146755476	+	Silent	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:146755476C>A	uc010khw.1	+	8	3599	c.3129C>A	c.(3127-3129)acC>acA	p.T1043T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1043					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			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)	ACTTCAGTACCGCGATCCCGG	0.672													A	146755476	C	A	146755476	2	1	131	1	0	0	0	0	0	0	0	1	6796	639	23	5		5	GRM1	6	146755476	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	49410783	146755476	24359591	25	8786											
TIAM2	26230	broad.mit.edu	37	6	155566797	155566797	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:155566797C>T	uc003qqb.3	+	20	4857	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	TIAM2_uc003qqe.3_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.3_Missense_Mutation_p.A728V|TIAM2_uc003qqf.3_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.3_Missense_Mutation_p.A507V|TIAM2_uc003qqh.3_Missense_Mutation_p.A120V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1195	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.A1195V(2)|p.Y1194Y(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTTATTACGCGGACCACTTT	0.403													T	155566797	C	T	155566797	3	4	131	1	0	0	0	0	1	0	0	0	15888	768	27	1	3646	1	TIAM2	6	155566797	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	8811321	155566797	15548270	26	8787											
ZPBP	11055	broad.mit.edu	37	7	50097645	50097645	+	Missense_Mutation	SNP	C	C	T	rs148913753		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:50097645C>T	uc003tou.3	-	3	497	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	ZPBP_uc010kyw.3_Missense_Mutation_p.E142K	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	143					binding of sperm to zona pellucida	extracellular region		p.L142L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGTTTATATTCGAGGAAACAT	0.328													T	50097645	C	T	50097645	3	4	131	1	0	0	0	0	1	0	0	0	18216	893	31	2	648	2	ZPBP	7	50097645	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		50097645	109041018	27	8788											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	131	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	5124177	55221822	103916841	28	8789											
EPO	2056	broad.mit.edu	37	7	100319586	100319586	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:100319586C>T	uc003uwi.3	+	3	341	c.160_splice	c.e3-1	p.T54_splice	EPO_uc011kkc.1_Splice_Site_p.T54_splice	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	54					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCATTTCAGACGGGCTGTGCT	0.532													T	100319586	C	T	100319586	3	4	131	1	0	0	0	0	1	0	0	0	5188	550	19	1	171	1	EPO	7	100319586	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	45097764	100319586	58819077	29	8790											
LAMB1	3912	broad.mit.edu	37	7	107575937	107575937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:107575937G>A	uc003vev.2	-	24	4344	c.4183C>T	c.(4183-4185)Caa>Taa	p.Q1395*	LAMB1_uc003vew.2_Nonsense_Mutation_p.Q1371*	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1371	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			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)	TGCTCCTCTTGTTTTTCCTTG	0.532													A	107575937	G	A	107575937	4	1	131	1	0	0	0	0	0	1	0	0	8610	1386	48	3	1281	3	LAMB1	7	107575937	Nonsense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	7256351	107575937	51562726	30	8791											
ASZ1	136991	broad.mit.edu	37	7	117024875	117024875	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:117024875C>G	uc003vjb.2	-	5	655	c.592G>C	c.(592-594)Gtt>Ctt	p.V198L	ASZ1_uc011kno.1_Missense_Mutation_p.V198L|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	198					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			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)			AACTTCAAAACTATATTTTTA	0.383													G	117024875	C	G	117024875	3	3	131	1	0	0	0	0	1	0	0	0	1069	565	20	5	867	5	ASZ1	7	117024875	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	9448938	117024875	42113788	31	8792											
IFNA10	3446	broad.mit.edu	37	9	21206859	21206859	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:21206859G>A	uc003zoq.1	-	0	284	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	80					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.L80F(2)|p.V79A(2)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATCTCATGGAGGACAGAGATG	0.483													A	21206859	G	A	21206859	3	1	131	1	0	0	0	0	1	0	0	0	7532	1000	35	3	335	3	IFNA10	9	21206859	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		21206859	120006572	32	8793	13	2									
IFNA10	3446	broad.mit.edu	37	9	21206861	21206861	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:21206861A>G	uc003zoq.1	-	0	282	c.236T>C	c.(235-237)gTc>gCc	p.V79A	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	79					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.V79A(4)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCATGGAGGACAGAGATGGC	0.488													G	21206861	A	G	21206861	3	3	131	1	0	0	0	0	1	0	0	0	7532	275	10	4	337	4	IFNA10	9	21206861	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	2	21206861	120006570	33	8794	13	2									
ZNF618	114991	broad.mit.edu	37	9	116750724	116750724	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:116750724C>T	uc004bid.3	+	2	300	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ZNF618_uc004bib.1_Silent_p.P67P|ZNF618_uc004bic.3_Silent_p.P67P|ZNF618_uc011lxi.2_Silent_p.P67P|ZNF618_uc011lxj.2_Silent_p.P67P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAGAGCTGCCCGATGACTACA	0.632													T	116750724	C	T	116750724	2	4	131	1	0	0	0	0	0	0	0	1	18039	639	23	2		2	ZNF618	9	116750724	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	95543863	116750724	24462707	34	8795											
SNAPC4	6621	broad.mit.edu	37	9	139282191	139282192	+	Splice_Site	INS	-	-	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:139282191_139282192insA	uc004chh.3	-	11	1239	c.1230_splice	c.e11+1	p.A410_splice		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	410	HTH myb-type 2.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCCGCACACTTACAGCATCTTC	0.579													A	139282192	-	A	139282191	8	5	131	1	0	1	1	0	0	0	1	0	14837	1769	61	0		0	SNAPC4	9	139282191	Splice_Site	INS	-	TCGA-14-0790-01B-01D-1494-08	22531467	139282191	1931240	35	8796											
NOXA1	10811	broad.mit.edu	37	9	140325755	140325755	+	Missense_Mutation	SNP	G	G	A	rs141558298		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:140325755G>A	uc004cmu.3	+	7	901	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	NOXA1_uc004cmv.3_Missense_Mutation_p.G256S|NOXA1_uc010nch.3_Missense_Mutation_p.G200S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	256					regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GACAGAGGTCGGTGCTGACCG	0.672													A	140325755	G	A	140325755	3	1	131	1	0	0	0	0	1	0	0	0	10560	1116	39	2	796	2	NOXA1	9	140325755	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	1043564	140325755	887676	36	8797											
RTKN2	219790	broad.mit.edu	37	10	63957757	63957757	+	Silent	SNP	G	G	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr10:63957757G>T	uc001jlw.3	-	11	1837	c.1740C>A	c.(1738-1740)acC>acA	p.T580T	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.T234T	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	580					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTTCAAAATTGGTTTTAGTGT	0.448													T	63957757	G	T	63957757	2	4	131	1	0	0	0	0	0	0	0	1	13723	1335	47	5		5	RTKN2	10	63957757	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08		63957757	71576990	37	8798											
CHUK	1147	broad.mit.edu	37	10	101981868	101981868	+	Splice_Site	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr10:101981868C>T	uc001kqp.3	-	4	440	c.385_splice	c.e4+1	p.G129_splice		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	129	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CTGATACGTACCTATATCACT	0.313													T	101981868	C	T	101981868	5	4	131	1	0	0	0	0	0	0	1	0	3416	521	18	3	1923	3	CHUK	10	101981868	Splice_Site	SNP	C	TCGA-14-0790-01B-01D-1494-08	38024111	101981868	33552879	38	8799											
LGR4	55366	broad.mit.edu	37	11	27390538	27390538	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr11:27390538C>T	uc001mrj.4	-	17	2217	c.1732G>A	c.(1732-1734)Ggc>Agc	p.G578S	LGR4_uc001mrk.4_Missense_Mutation_p.G554S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	578						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GAAATCAAGCCTATAAACAAT	0.378													T	27390538	C	T	27390538	3	4	131	1	0	0	0	0	1	0	0	0	8756	681	24	3	1127	3	LGR4	11	27390538	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		27390538	107615978	39	8800											
HARBI1	283254	broad.mit.edu	37	11	46637480	46637480	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr11:46637480C>T	uc001ncy.3	-	1	556	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	103						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATTGGCAACACAACGACTCAT	0.488													T	46637480	C	T	46637480	3	4	131	1	0	0	0	0	1	0	0	0	6958	478	17	3	749	3	HARBI1	11	46637480	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	19246942	46637480	88369036	40	8801											
VWF	7450	broad.mit.edu	37	12	6091103	6091103	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:6091103C>T	uc001qnn.1	-	41	7386	c.7136G>A	c.(7135-7137)cGt>cAt	p.R2379H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2379					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTGGGCAAACGGTGCGGGGG	0.612													T	6091103	C	T	6091103	3	4	131	1	0	0	0	0	1	0	0	0	17243	536	19	1	1349	1	VWF	12	6091103	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		6091103	127760792	41	8802											
KRT3	3850	broad.mit.edu	37	12	53185580	53185580	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:53185580C>T	uc001say.3	-	5	1275	c.1209G>A	c.(1207-1209)acG>acA	p.T403T		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	403	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCTGCCAGCCGTGGTCTGCA	0.527													T	53185580	C	T	53185580	2	4	131	1	0	0	0	0	0	0	0	1	8466	639	23	2		2	KRT3	12	53185580	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	47094477	53185580	80666315	42	8803											
OR6C4	341418	broad.mit.edu	37	12	55945614	55945614	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:55945614G>A	uc010spp.2	+	0	604	c.604G>A	c.(604-606)Gtt>Att	p.V202I		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTCTTGGCCGTTGTGACTCT	0.483													A	55945614	G	A	55945614	3	1	131	1	0	0	0	0	1	0	0	0	11193	1145	40	1	606	1	OR6C4	12	55945614	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	2760034	55945614	77906281	43	8804											
GLIPR1	11010	broad.mit.edu	37	12	75874782	75874782	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:75874782A>G	uc001sxs.3	+	0	270	c.122A>G	c.(121-123)cAt>cGt	p.H41R	GLIPR1_uc009zsb.1_Missense_Mutation_p.H41R	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	41					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GTTCGAATCCATAACAAGTTC	0.378													G	75874782	A	G	75874782	3	3	131	1	0	0	0	0	1	0	0	0	6441	217	8	4	124	4	GLIPR1	12	75874782	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	19929168	75874782	57977113	44	8805											
MGAT4C	25834	broad.mit.edu	37	12	86373908	86373908	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:86373908C>T	uc010sum.2	-	5	827	c.668G>A	c.(667-669)cGt>cAt	p.R223H	MGAT4C_uc001tal.4_Missense_Mutation_p.R199H|MGAT4C_uc001taj.4_Missense_Mutation_p.R199H|MGAT4C_uc001tak.4_Missense_Mutation_p.R199H|MGAT4C_uc001tai.4_Missense_Mutation_p.R199H|MGAT4C_uc001tah.4_Missense_Mutation_p.R199H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGCTTGGAACGAAATTTGAC	0.338													T	86373908	C	T	86373908	3	4	131	1	0	0	0	0	1	0	0	0	9547	536	19	1	844	1	MGAT4C	12	86373908	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	10499126	86373908	47477987	45	8806											
UHRF1BP1L	23074	broad.mit.edu	37	12	100453163	100453163	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:100453163T>C	uc001tgq.3	-	13	2121	c.1892A>G	c.(1891-1893)aAa>aGa	p.K631R	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.K281R	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	631										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATCACAATCTTTAAAGTCTTG	0.353													C	100453163	T	C	100453163	3	2	131	1	0	0	0	0	1	0	0	0	16966	1841	64	4	2534	4	UHRF1BP1L	12	100453163	Missense_Mutation	SNP	T	TCGA-14-0790-01B-01D-1494-08	14079255	100453163	33398732	46	8807											
SBNO1	55206	broad.mit.edu	37	12	123794339	123794339	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:123794339C>T	uc010tap.2	-	24	3360	c.3360G>A	c.(3358-3360)gcG>gcA	p.A1120A	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.A1119A|SBNO1_uc010taq.2_Silent_p.A71A|SBNO1_uc001ues.1_Silent_p.A71A	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1120							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACTGAAATAACGCATTCTGCT	0.328													T	123794339	C	T	123794339	2	4	131	1	0	0	0	0	0	0	0	1	13862	523	19	1		1	SBNO1	12	123794339	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	23341176	123794339	10057556	47	8808											
CDADC1	81602	broad.mit.edu	37	13	49865831	49865831	+	Silent	SNP	A	A	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr13:49865831A>C	uc001vcu.3	+	9	1610	c.1483A>C	c.(1483-1485)Aga>Cga	p.R495R	CDADC1_uc021rjm.1_Intron|CDADC1_uc010tgk.2_Silent_p.R297R|CDADC1_uc001vcv.3_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.	495							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TGGTGTGTTGAGACCTGTCCC	0.488													C	49865831	A	C	49865831	2	2	131	1	0	0	0	0	0	0	0	1	3053	296	11	5		5	CDADC1	13	49865831	Silent	SNP	A	TCGA-14-0790-01B-01D-1494-08		49865831	65304047	48	8809											
OR4N2	390429	broad.mit.edu	37	14	20295720	20295720	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:20295720T>C	uc010tkv.2	+	0	113	c.113T>C	c.(112-114)aTc>aCc	p.I38T		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTCATCATCCTCCCTGGA	0.438													C	20295720	T	C	20295720	3	2	131	1	0	0	0	0	1	0	0	0	11077	1435	50	4	115	4	OR4N2	14	20295720	Missense_Mutation	SNP	T	TCGA-14-0790-01B-01D-1494-08		20295720	87053820	49	8810											
RNASE11	122651	broad.mit.edu	37	14	21052495	21052495	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:21052495G>T	uc010ahw.3	-	2	475	c.139C>A	c.(139-141)Cag>Aag	p.Q47K	RNASE11_uc010ahv.3_Missense_Mutation_p.Q47K|RNASE11_uc010ahx.3_Missense_Mutation_p.Q47K|RNASE11_uc001vxs.3_Missense_Mutation_p.Q47K|RNASE11_uc021rnu.1_Missense_Mutation_p.Q47K	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	47						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TCAATGGTCTGTTTTTCTTGG	0.378													T	21052495	G	T	21052495	3	4	131	1	0	0	0	0	1	0	0	0	13401	1386	48	5	464	5	RNASE11	14	21052495	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	756775	21052495	86297045	50	8811											
ARID4A	5926	broad.mit.edu	37	14	58831848	58831848	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:58831848A>G	uc001xdp.3	+	19	3295	c.3041A>G	c.(3040-3042)gAt>gGt	p.D1014G	ARID4A_uc001xdo.3_Missense_Mutation_p.D1014G|ARID4A_uc001xdq.3_Missense_Mutation_p.D1014G|ARID4A_uc010apg.1_Missense_Mutation_p.D692G	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1014					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q1013K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTAGTCAAGATGAGTCTCGA	0.413													G	58831848	A	G	58831848	3	3	131	1	0	0	0	0	1	0	0	0	919	333	12	4	3115	4	ARID4A	14	58831848	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	37779353	58831848	48517692	51	8812											
AHNAK2	113146	broad.mit.edu	37	14	105408457	105408457	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:105408457C>T	uc010axc.1	-	6	13451	c.13331G>A	c.(13330-13332)cGg>cAg	p.R4444Q	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.R4344Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4444						nucleus				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)			CCCCTCCAGCCGCGTACTGTC	0.587													T	105408457	C	T	105408457	3	4	131	1	0	0	0	0	1	0	0	0	415	652	23	2	4060	2	AHNAK2	14	105408457	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	46576609	105408457	1941083	52	8813											
PLCB2	5330	broad.mit.edu	37	15	40583002	40583002	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:40583002G>C	uc001zld.3	-	27	3374	c.3073C>G	c.(3073-3075)Cag>Gag	p.Q1025E	PLCB2_uc001zlc.3_Missense_Mutation_p.Q9E|PLCB2_uc010bbo.3_Missense_Mutation_p.Q1021E|PLCB2_uc010ucm.2_Missense_Mutation_p.Q1010E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	1025					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E1024D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCTGCCGCCTGTTTCTCTCTG	0.587													C	40583002	G	C	40583002	3	2	131	1	0	0	0	0	1	0	0	0	12028	1386	48	5	504	5	PLCB2	15	40583002	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		40583002	61948390	53	8814											
VPS39	23339	broad.mit.edu	37	15	42457929	42457929	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:42457929G>A	uc001zpd.3	-	17	1950	c.1799C>T	c.(1798-1800)gCt>gTt	p.A600V	VPS39_uc001zpc.3_Missense_Mutation_p.A589V|VPS39_uc001zpb.3_5'UTR	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	600					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ATAAGGAATAGCCAGACCCTT	0.443													A	42457929	G	A	42457929	3	1	131	1	0	0	0	0	1	0	0	0	17206	971	34	3	897	3	VPS39	15	42457929	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	1874927	42457929	60073463	54	8815											
SLC27A2	11001	broad.mit.edu	37	15	50518260	50518260	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:50518260G>A	uc001zxw.3	+	5	1475	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	SLC27A2_uc010bes.3_Missense_Mutation_p.V362I|SLC27A2_uc001zxx.3_Missense_Mutation_p.V180I	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	415					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	p.V415L(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGGATATTGCGTCAGAGTTCC	0.353													A	50518260	G	A	50518260	3	1	131	1	0	0	0	0	1	0	0	0	14526	1145	40	1	1265	1	SLC27A2	15	50518260	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	8060331	50518260	52013132	55	8816											
ACAN	176	broad.mit.edu	37	15	89395102	89395102	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:89395102G>A	uc010upo.1	+	10	2478	c.2104G>A	c.(2104-2106)Gtg>Atg	p.V702M	ACAN_uc010upp.1_Missense_Mutation_p.V702M|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	702					cell adhesion		hyaluronic acid binding|sugar binding			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)			GGAGTGGATCGTGACCCAAGT	0.567													A	89395102	G	A	89395102	3	1	131	1	0	0	0	0	1	0	0	0	117	1145	40	1	2142	1	ACAN	15	89395102	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	38876842	89395102	13136290	56	8817											
GRIN2A	2903	broad.mit.edu	37	16	9858195	9858195	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:9858195G>A	uc010uym.2	-	13	3516	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	GRIN2A_uc002czo.4_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.2_Missense_Mutation_p.T912M|GRIN2A_uc002czr.4_Missense_Mutation_p.T1069M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1069					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T1069M(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTGTGGCACGTGGCCCGATT	0.502													A	9858195	G	A	9858195	3	1	131	1	0	0	0	0	1	0	0	0	6779	1145	40	1	1192	1	GRIN2A	16	9858195	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		9858195	80496558	57	8818											
IL4R	3566	broad.mit.edu	37	16	27373745	27373745	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:27373745G>A	uc002don.3	+	10	1314	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	IL4R_uc002dop.4_Missense_Mutation_p.V343M|IL4R_uc010bxy.3_Missense_Mutation_p.V358M|IL4R_uc002doo.3_Missense_Mutation_p.V198M	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	358					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGCATCAGCGTGGTGCGATG	0.562													A	27373745	G	A	27373745	3	1	131	1	0	0	0	0	1	0	0	0	7698	1145	40	1	1124	1	IL4R	16	27373745	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	17515550	27373745	62981008	58	8819											
CDH8	1006	broad.mit.edu	37	16	61687974	61687974	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:61687974C>T	uc002eog.2	-	11	2893	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	646					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTATGCCGCCGTAGAG	0.388													T	61687974	C	T	61687974	2	4	131	1	0	0	0	0	0	0	0	1	3116	726	26	3		3	CDH8	16	61687974	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	34314229	61687974	28666779	59	8820											
C16orf7	9605	broad.mit.edu	37	16	89782935	89782935	+	Silent	SNP	G	G	C			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:89782935G>C	uc002fom.1	-	3	491	c.366C>G	c.(364-366)ctC>ctG	p.L122L	C16orf7_uc002fol.1_Silent_p.L52L|LOC100128881_uc002fon.1_Non-coding_Transcript|LOC100128881_uc002foo.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	122					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAAAAGGAGAGAGCTTTCCTC	0.567													C	89782935	G	C	89782935	2	2	131	1	0	0	0	0	0	0	0	1	1828	929	33	5		5	C16orf7	16	89782935	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	28094961	89782935	571818	60	8821											
PRPF8	10594	broad.mit.edu	37	17	1577046	1577046	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:1577046A>G	uc002fte.3	-	21	3554	c.3440T>C	c.(3439-3441)gTt>gCt	p.V1147A		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1147						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCACAAGTTAACATCATGTTT	0.537													G	1577046	A	G	1577046	3	3	131	1	0	0	0	0	1	0	0	0	12575	43	2	4	3655	4	PRPF8	17	1577046	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08		1577046	79618164	61	8822											
SPDYE4	388333	broad.mit.edu	37	17	8658859	8658859	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:8658859C>T	uc010cnz.1	-	3	641	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	155										breast(1)|endometrium(2)|kidney(1)	4						GAAATGAATGCGTTGGTATTG	0.493													T	8658859	C	T	8658859	3	4	131	1	0	0	0	0	1	0	0	0	15030	768	27	1	261	1	SPDYE4	17	8658859	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	7081813	8658859	72536351	62	8823											
MYH4	4622	broad.mit.edu	37	17	10369590	10369590	+	Silent	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:10369590G>A	uc002gmn.3	-	4	459	c.348_splice	c.e4+1	p.Y116_splice	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	116	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGTGCTCACGTAGATCATCC	0.433													A	10369590	G	A	10369590	2	1	131	1	0	0	0	0	0	0	0	1	10037	1159	40	1		1	MYH4	17	10369590	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	1710731	10369590	70825620	63	8824											
C17orf53	78995	broad.mit.edu	37	17	42225478	42225478	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:42225478C>T	uc002ifi.2	+	2	544	c.307C>T	c.(307-309)Cct>Tct	p.P103S	C17orf53_uc010czq.2_Missense_Mutation_p.P103S|C17orf53_uc002ifj.2_Missense_Mutation_p.P103S|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	103										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCCCCTAAGGCCTGTCTCTAC	0.577													T	42225478	C	T	42225478	3	4	131	1	0	0	0	0	1	0	0	0	1862	739	26	3	317	3	C17orf53	17	42225478	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	31855888	42225478	38969732	64	8825											
CTDP1	9150	broad.mit.edu	37	18	77513692	77513692	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr18:77513692G>A	uc002lnh.2	+	12	2935	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	CTDP1_uc002lni.2_3'UTR|CTDP1_uc010drd.2_3'UTR|CTDP1_uc021ult.1_Missense_Mutation_p.E811K	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	930					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGCCGCCAGCGAGTCCAGCAG	0.617													A	77513692	G	A	77513692	3	1	131	1	0	0	0	0	1	0	0	0	4002	1059	37	2	2838	2	CTDP1	18	77513692	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		77513692	563556	65	8826											
MATK	4145	broad.mit.edu	37	19	3783948	3783948	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:3783948G>T	uc002lyt.3	-	5	846	c.446C>A	c.(445-447)tCc>tAc	p.S149Y	MATK_uc002lyv.3_Missense_Mutation_p.S150Y|MATK_uc002lyu.3_Missense_Mutation_p.S108Y|MATK_uc010dtq.3_Missense_Mutation_p.S149Y	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	149	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGCGCGGACTCCCGCAC	0.682													T	3783948	G	T	3783948	3	4	131	1	0	0	0	0	1	0	0	0	9332	1174	41	5	1113	5	MATK	19	3783948	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		3783948	55345035	66	8827											
NCAN	1463	broad.mit.edu	37	19	19351446	19351446	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:19351446C>T	uc002nlz.3	+	11	3543	c.3444C>T	c.(3442-3444)aaC>aaT	p.N1148N	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1148	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCGGCCTGAACGACAGGATCG	0.637													T	19351446	C	T	19351446	2	4	131	1	0	0	0	0	0	0	0	1	10204	535	19	1		1	NCAN	19	19351446	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	15567498	19351446	39777537	67	8828											
NR1H2	7376	broad.mit.edu	37	19	50882422	50882423	+	Frame_Shift_Ins	INS	-	-	G			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:50882422_50882423insG	uc010enw.3	+	6	1380_1381	c.911_912insG	c.(910-912)aagfs	p.K304fs	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Ins_p.K207fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	304	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCCTCCTGAAGGCATCCACTA	0.574													G	50882423	-	G	50882422	7	5	131	1	0	1	1	0	0	0	0	0	10617	72	3	0	929	0	NR1H2	19	50882422	Frame_Shift_Ins	INS	-	TCGA-14-0790-01B-01D-1494-08	31530976	50882422	8246561	68	8829											
KIR2DL1	3802	broad.mit.edu	37	19	55284915	55284915	+	Silent	SNP	C	C	T	rs144426670	byFrequency	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:55284915C>T	uc010erz.1	+	2	239	c.201C>T	c.(199-201)aaC>aaT	p.N67N	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Silent_p.N67N	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	67	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGATGTTTAACGACACTTTGC	0.517													T	55284915	C	T	55284915	2	4	131	1	0	0	0	0	0	0	0	1	8316	535	19	1		1	KIR2DL1	19	55284915	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	4402493	55284915	3844068	69	8830											
ZSCAN1	284312	broad.mit.edu	37	19	58565272	58565272	+	Silent	SNP	C	C	T	rs144381428		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:58565272C>T	uc002qrc.1	+	5	1327	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	360					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCGGGAGTCCGTCCCACCCA	0.662													T	58565272	C	T	58565272	2	4	131	1	0	0	0	0	0	0	0	1	18223	639	23	2		2	ZSCAN1	19	58565272	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	3280357	58565272	563711	70	8831											
CRYBB2	1415	broad.mit.edu	37	22	25627599	25627599	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr22:25627599C>T	uc003abp.1	+	5	526	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	160	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CCCCGGCTACCGTGGGCTGCA	0.637													T	25627599	C	T	25627599	3	4	131	1	0	0	0	0	1	0	0	0	3911	652	23	2	496	2	CRYBB2	22	25627599	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		25627599	25676967	71	8832											
ARHGAP6	395	broad.mit.edu	37	X	11160414	11160414	+	Silent	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:11160414G>A	uc004cup.1	-	11	3069	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Silent_p.F529F|ARHGAP6_uc004cun.1_Silent_p.F552F	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	732					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCAGATATCGAAAGGCTCCT	0.318													A	11160414	G	A	11160414	2	1	131	1	0	0	0	0	0	0	0	1	887	1049	37	2		2	ARHGAP6	23	11160414	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08		11160414	144110146	72	8833											
SCML2	10389	broad.mit.edu	37	X	18348708	18348708	+	Silent	SNP	C	C	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:18348708C>T	uc004cyl.2	-	3	248	c.91_splice	c.e3+1	p.D31_splice	SCML2_uc004cyk.3_Splice_Site|SCML2_uc010nfd.1_Splice_Site_p.D31_splice|SCML2_uc011miz.1_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	31					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AAAACCTACCCCTTTGTACAG	0.308													T	18348708	C	T	18348708	2	4	131	1	0	0	0	0	0	0	0	1	13910	637	22	3		3	SCML2	23	18348708	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	7188294	18348708	136921852	73	8834											
DCAF8L2	347442	broad.mit.edu	37	X	27765650	27765650	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:27765650C>A	uc011mjy.2	+	0	725	c.638C>A	c.(637-639)gCc>gAc	p.A213D		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GGGGCAAGAGCCTTTGTGCAG	0.592													A	27765650	C	A	27765650	3	1	131	1	0	0	0	0	1	0	0	0	4278	739	26	5	640	5	DCAF8L2	23	27765650	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	9416942	27765650	127504910	74	8835											
FAM47C	442444	broad.mit.edu	37	X	37028542	37028542	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:37028542G>A	uc004ddl.2	+	0	2111	c.2059G>A	c.(2059-2061)Gta>Ata	p.V687I		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	687								p.R686H(1)		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						AGAGACTCGCGTATCTCATCT	0.657													A	37028542	G	A	37028542	3	1	131	1	0	0	0	0	1	0	0	0	5571	1145	40	1	2061	1	FAM47C	23	37028542	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	9262892	37028542	118242018	75	8836											
BCORL1	63035	broad.mit.edu	37	X	129149265	129149265	+	Silent	SNP	G	G	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:129149265G>A	uc022cdu.1	+	2	2561	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	BCORL1_uc010nrd.1_Silent_p.A741A	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	839					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				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						ACCACCAGGCGTCTCTGCTTT	0.607													A	129149265	G	A	129149265	2	1	131	1	0	0	0	0	0	0	0	1	1387	1132	40	1		1	BCORL1	23	129149265	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	92120723	129149265	26121295	76	8837											
GPR112	139378	broad.mit.edu	37	X	135485475	135485475	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:135485475C>A	uc004ezu.1	+	21	8939	c.8648C>A	c.(8647-8649)aCt>aAt	p.T2883N	GPR112_uc010nsb.1_Missense_Mutation_p.T2678N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2883					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)					AGCCCAACAACTCCGTTGTAA	0.498													A	135485475	C	A	135485475	3	1	131	1	0	0	0	0	1	0	0	0	6629	565	20	5	8722	5	GPR112	23	135485475	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	6336210	135485475	19785085	77	8838											
RBMX	27316	broad.mit.edu	37	X	135961572	135961572	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:135961572A>T	uc004fae.2	-	1	225	c.15T>A	c.(13-15)gaT>gaA	p.D5E	RBMX_uc011mwf.1_Missense_Mutation_p.D5E|RBMX_uc004fad.1_Missense_Mutation_p.D5E|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	5						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.D5Y(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCCTGGGCGATCTGCTTCAA	0.403													T	135961572	A	T	135961572	3	4	131	1	0	0	0	0	1	0	0	0	13151	330	12	5	1247	5	RBMX	23	135961572	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	476097	135961572	19308988	78	8839											
MASP2	10747	broad.mit.edu	37	1	11107017	11107017	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:11107017G>A	uc001aru.3	-	1	197	c.165C>T	c.(163-165)taC>taT	p.Y55Y	MASP2_uc001arv.3_Silent_p.Y55Y|MASP2_uc001arw.3_Silent_p.Y55Y|MASP2_uc001arx.2_Silent_p.Y55Y	NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	55	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGCGCAGGCGGTAGCCGGGGG	0.657													A	11107017	G	A	11107017	2	1	132	1	0	0	0	0	0	0	0	1	9323	1256	44	3		3	MASP2	1	11107017	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08		11107017	238143604	1	8840											
ZNF362	149076	broad.mit.edu	37	1	33745906	33745906	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:33745906G>C	uc001bxc.1	+	4	701	c.531G>C	c.(529-531)aaG>aaC	p.K177N		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACTCCATCAAGACAATCCAGG	0.667													C	33745906	G	C	33745906	3	2	132	1	0	0	0	0	1	0	0	0	17865	933	33	5	545	5	ZNF362	1	33745906	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	22638889	33745906	215504715	2	8841											
KLF17	128209	broad.mit.edu	37	1	44595485	44595485	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:44595485G>A	uc001clp.3	+	1	600	c.542G>A	c.(541-543)gGc>gAc	p.G181D	KLF17_uc009vxf.1_Missense_Mutation_p.G144D	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	181					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCTTACCCTGGCCTCTCGACA	0.597													A	44595485	G	A	44595485	3	1	132	1	0	0	0	0	1	0	0	0	8345	1203	42	3	548	3	KLF17	1	44595485	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	10849579	44595485	204655136	3	8842											
LRRC7	57554	broad.mit.edu	37	1	70489054	70489054	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:70489054A>T	uc001dep.3	+	14	1707	c.1677A>T	c.(1675-1677)agA>agT	p.R559S	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	559						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAAGTGGCAGACAGGTAGGCC	0.507													T	70489054	A	T	70489054	3	4	132	1	0	0	0	0	1	0	0	0	9020	272	10	5	1735	5	LRRC7	1	70489054	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	25893569	70489054	178761567	4	8843											
NEGR1	257194	broad.mit.edu	37	1	72400892	72400892	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:72400892A>C	uc001dfw.3	-	1	507	c.279T>G	c.(277-279)atT>atG	p.I93M	NEGR1_uc001dfv.3_5'UTR|NEGR1_uc010oqs.2_Missense_Mutation_p.I93M	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	93	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAATGTTGAAATTGAAACTC	0.443													C	72400892	A	C	72400892	3	2	132	1	0	0	0	0	1	0	0	0	10317	10	1	5	809	5	NEGR1	1	72400892	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	1911838	72400892	176849729	5	8844											
MOV10	4343	broad.mit.edu	37	1	113232671	113232671	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:113232671G>A	uc001eck.3	+	4	1057	c.787G>A	c.(787-789)Gga>Aga	p.G263R	MOV10_uc001ecl.2_Missense_Mutation_p.G263R|MOV10_uc001ecn.3_Missense_Mutation_p.G263R|MOV10_uc001ecm.3_Missense_Mutation_p.G203R|MOV10_uc009wgj.1_Missense_Mutation_p.G203R	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	263					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCGGATCACCGGAAACCCTGT	0.602													A	113232671	G	A	113232671	3	1	132	1	0	0	0	0	1	0	0	0	9718	1117	39	2	801	2	MOV10	1	113232671	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	40831779	113232671	136017950	6	8845											
INSRR	3645	broad.mit.edu	37	1	156816384	156816384	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:156816384C>T	uc010pht.2	-	7	2036	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	579	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGTGGTTAGCGTGATGGCCC	0.607													T	156816384	C	T	156816384	2	4	132	1	0	0	0	0	0	0	0	1	7774	755	27	1		1	INSRR	1	156816384	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	43583713	156816384	92434237	7	8846											
OR10Z1	128368	broad.mit.edu	37	1	158576316	158576316	+	Silent	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:158576316T>C	uc010pio.2	+	0	88	c.88T>C	c.(88-90)Ttg>Ctg	p.L30L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTCTTTGCCTTGTTCCTCTC	0.502													C	158576316	T	C	158576316	2	2	132	1	0	0	0	0	0	0	0	1	10923	1606	56	4		4	OR10Z1	1	158576316	Silent	SNP	T	TCGA-14-0813-01A-01W-0424-08	1759932	158576316	90674305	8	8847											
ATF6	22926	broad.mit.edu	37	1	161816315	161816315	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:161816315T>C	uc001gbs.3	+	9	1381	c.1264T>C	c.(1264-1266)Tct>Cct	p.S422P	ATF6_uc001gbq.2_Missense_Mutation_p.S422P	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	422					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TCTAGGATTTTCTGCTAAAGA	0.403													C	161816315	T	C	161816315	3	2	132	1	0	0	0	0	1	0	0	0	1084	1783	62	4	1302	4	ATF6	1	161816315	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	3239999	161816315	87434306	9	8848											
GORAB	92344	broad.mit.edu	37	1	170511696	170511696	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:170511696C>T	uc001gha.2	+	2	586	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	GORAB_uc001ggz.4_Missense_Mutation_p.R187C|GORAB_uc009wvx.2_Missense_Mutation_p.R7C|GORAB_uc001ghb.2_Missense_Mutation_p.R7C|GORAB_uc001ghc.2_Missense_Mutation_p.R7C|GORAB_uc001ghd.2_5'Flank	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	187						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GAAAAATAAACGTAAAAAAGC	0.398													T	170511696	C	T	170511696	3	4	132	1	0	0	0	0	1	0	0	0	6574	536	19	1	569	1	GORAB	1	170511696	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	8695381	170511696	78738925	10	8849											
PAPPA2	60676	broad.mit.edu	37	1	176526282	176526282	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:176526282G>A	uc001gkz.3	+	1	1988	c.824G>A	c.(823-825)cGt>cAt	p.R275H	PAPPA2_uc001gky.1_Missense_Mutation_p.R275H|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	275					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGCTGCTGCGTCCAGAAGTG	0.577													A	176526282	G	A	176526282	3	1	132	1	0	0	0	0	1	0	0	0	11433	1145	40	1	826	1	PAPPA2	1	176526282	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	6014586	176526282	72724339	11	8850											
HMCN1	83872	broad.mit.edu	37	1	186062774	186062774	+	Missense_Mutation	SNP	G	G	A	rs143555094		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:186062774G>A	uc001grq.1	+	65	10398	c.10169G>A	c.(10168-10170)cGg>cAg	p.R3390Q	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3390	Ig-like C2-type 32.				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						TCCCATATCCGGTTACTGGCA	0.428													A	186062774	G	A	186062774	3	1	132	1	0	0	0	0	1	0	0	0	7220	1116	39	2	10431	2	HMCN1	1	186062774	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	9536492	186062774	63187847	12	8851											
AVPR1B	553	broad.mit.edu	37	1	206224826	206224826	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:206224826C>T	uc001hds.2	+	0	544	c.386C>T	c.(385-387)aCg>aTg	p.T129M		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	129					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.T129M(4)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGGCCATGACGCTGGACCGC	0.657													T	206224826	C	T	206224826	3	4	132	1	0	0	0	0	1	0	0	0	1232	536	19	1	388	1	AVPR1B	1	206224826	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	20162052	206224826	43025795	13	8852											
CD55	1604	broad.mit.edu	37	1	207500170	207500170	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:207500170C>T	uc001hfq.4	+	4	946	c.652C>T	c.(652-654)Cca>Tca	p.P218S	CD55_uc001hfr.4_Missense_Mutation_p.P218S|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.P154S|CD55_uc009xce.3_Missense_Mutation_p.P218S	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	218	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGACCCGTTGCCAGAGTGCAG	0.403													T	207500170	C	T	207500170	3	4	132	1	0	0	0	0	1	0	0	0	3024	739	26	3	670	3	CD55	1	207500170	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	1275344	207500170	41750451	14	8853											
SIPA1L2	57568	broad.mit.edu	37	1	232581433	232581433	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:232581433C>T	uc001hvg.3	-	8	3353	c.3195G>A	c.(3193-3195)acG>acA	p.T1065T	SIPA1L2_uc001hvf.3_Silent_p.T139T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1065					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCGGTGCCACGTGGTGTTCC	0.642													T	232581433	C	T	232581433	2	4	132	1	0	0	0	0	0	0	0	1	14330	523	19	1		1	SIPA1L2	1	232581433	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	25081263	232581433	16669188	15	8854											
OR2L13	284521	broad.mit.edu	37	1	248262881	248262881	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248262881G>T	uc001ids.3	+	2	541	c.204G>T	c.(202-204)atG>atT	p.M68I	OR2L13_uc021pmc.1_Missense_Mutation_p.M68I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TCTCCCTTATGGACCTGATGT	0.547													T	248262881	G	T	248262881	3	4	132	1	0	0	0	0	1	0	0	0	11006	1348	47	5	206	5	OR2L13	1	248262881	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	15681448	248262881	987740	16	8855											
OR2T4	127074	broad.mit.edu	37	1	248525679	248525679	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248525679G>A	uc001ieh.1	+	0	797	c.797G>A	c.(796-798)cGg>cAg	p.R266Q		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GCAGAGGGCCGGAAAAAGGCC	0.547													A	248525679	G	A	248525679	3	1	132	1	0	0	0	0	1	0	0	0	11027	1116	39	2	799	2	OR2T4	1	248525679	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	262798	248525679	724942	17	8856											
NBAS	51594	broad.mit.edu	37	2	15417158	15417158	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:15417158G>T	uc002rcc.1	-	42	5232	c.5206C>A	c.(5206-5208)Cca>Aca	p.P1736T	NBAS_uc010exl.1_Missense_Mutation_p.P808T|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1736								p.P1736L(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						AAGGCTTCTGGATCAGTCTTC	0.398													T	15417158	G	T	15417158	3	4	132	1	0	0	0	0	1	0	0	0	10186	1174	41	5	1949	5	NBAS	2	15417158	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		15417158	227782215	18	8857											
ASXL2	55252	broad.mit.edu	37	2	25965918	25965918	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:25965918C>T	uc002rgs.2	-	11	3509	c.3288G>A	c.(3286-3288)caG>caA	p.Q1096Q	ASXL2_uc002rgt.1_Silent_p.Q579Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1096					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTCCAGCTGGAAACCTG	0.493													T	25965918	C	T	25965918	2	4	132	1	0	0	0	0	0	0	0	1	1067	796	28	3		3	ASXL2	2	25965918	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	10548760	25965918	217233455	19	8858											
IL18R1	8809	broad.mit.edu	37	2	102984390	102984390	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:102984390G>T	uc002tbw.4	+	2	314	c.164G>T	c.(163-165)aGc>aTc	p.S55I	IL18R1_uc010ywb.1_Missense_Mutation_p.S55I|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Missense_Mutation_p.S55I|IL18R1_uc010ywc.2_Missense_Mutation_p.S55I	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	55	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.S55N(2)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACCACCAAAAGCTGGTACAAA	0.448													T	102984390	G	T	102984390	3	4	132	1	0	0	0	0	1	0	0	0	7647	971	34	5	170	5	IL18R1	2	102984390	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	77018472	102984390	140214983	20	8859											
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:167263066C>T	uc002udu.2	-	24	4203	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468													T	167263066	C	T	167263066	3	4	132	1	0	0	0	0	1	0	0	0	13923	536	19	1	979	1	SCN7A	2	167263066	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	64278676	167263066	75936307	21	8860											
ITGA6	3655	broad.mit.edu	37	2	173338970	173338970	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:173338970G>A	uc002uhp.1	+	5	1166	c.963G>A	c.(961-963)gcG>gcA	p.A321A	ITGA6_uc010fqk.1_Silent_p.A207A|ITGA6_uc010zdy.1_Silent_p.A202A|ITGA6_uc002uho.1_Silent_p.A321A|ITGA6_uc010fqm.1_5'Flank	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	360					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATGATGTGGCGGTGGTGGACC	0.483													A	173338970	G	A	173338970	2	1	132	1	0	0	0	0	0	0	0	1	7880	1103	39	2		2	ITGA6	2	173338970	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	6075904	173338970	69860403	22	8861											
TTN	7273	broad.mit.edu	37	2	179528769	179528769	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:179528769T>G	uc021vsy.1	-						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Missense_Mutation_p.K259Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			TCAGGCTTTTTAGGAGGCACC	0.388													G	179528769	T	G	179528769	3	3	132	1	0	0	0	0	1	0	0	0	16732	1769	61	5		5	TTN	2	179528769	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	6189799	179528769	63670604	23	8862											
ALPP	250	broad.mit.edu	37	2	233246043	233246043	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:233246043C>T	uc002vsq.3	+	9	1440	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	425						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCTCAAGGACGGCGCCCGGC	0.697													T	233246043	C	T	233246043	2	4	132	1	0	0	0	0	0	0	0	1	548	535	19	1		1	ALPP	2	233246043	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	53717274	233246043	9953330	24	8863											
COL6A3	1293	broad.mit.edu	37	2	238275874	238275874	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:238275874C>T	uc002vwl.2	-	10	5241	c.4956G>A	c.(4954-4956)agG>agA	p.R1652R	COL6A3_uc002vwo.2_Silent_p.R1446R|COL6A3_uc010znj.1_Silent_p.R1045R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1652	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		GGAAACTGTCCCTCCTGAAGT	0.433													T	238275874	C	T	238275874	2	4	132	1	0	0	0	0	0	0	0	1	3701	622	22	3		3	COL6A3	2	238275874	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	5029831	238275874	4923499	25	8864											
OR6B2	389090	broad.mit.edu	37	2	240969715	240969715	+	Silent	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:240969715G>T	uc010zoc.2	-	0	132	c.132C>A	c.(130-132)gcC>gcA	p.A44A	OR6B2_uc002vyr.3_Silent_p.A44A	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGAGGATGATGGCCAGGTTCT	0.577													T	240969715	G	T	240969715	2	4	132	1	0	0	0	0	0	0	0	1	11188	1335	47	5		5	OR6B2	2	240969715	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	2693841	240969715	2229658	26	8865											
CHL1	10752	broad.mit.edu	37	3	424158	424158	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:424158G>T	uc003bot.3	+	18	2621	c.1979_splice	c.e18-1	p.E660_splice	CHL1_uc003bou.3_Splice_Site_p.E644_splice|CHL1_uc003bow.2_Splice_Site_p.E644_splice|CHL1_uc011asi.2_Splice_Site_p.E660_splice|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	644	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				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)		TACTACCAGAGTATATTGTTG	0.338													T	424158	G	T	424158	3	4	132	1	0	0	0	0	1	0	0	0	3349	1043	36	5	2042	5	CHL1	3	424158	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		424158	197598272	27	8866											
POLQ	10721	broad.mit.edu	37	3	121206922	121206922	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:121206922T>G	uc003eee.4	-	15	4985	c.4856A>C	c.(4855-4857)aAa>aCa	p.K1619T	POLQ_uc003eed.3_Missense_Mutation_p.K791T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1619					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCCAGTTAATTTTGATTTTTC	0.408								DNA polymerases (catalytic subunits)					G	121206922	T	G	121206922	3	3	132	1	0	0	0	0	1	0	0	0	12208	1841	64	5	2976	5	POLQ	3	121206922	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	120782764	121206922	76815508	28	8867											
PRR23C	389152	broad.mit.edu	37	3	138762733	138762733	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:138762733G>A	uc011bmt.1	-	0	1002	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	244	Pro-rich.									breast(2)|lung(7)|skin(2)	11						AGCTCCGGGCGCGCGTGGGGA	0.642													A	138762733	G	A	138762733	3	1	132	1	0	0	0	0	1	0	0	0	12596	1087	38	1	62	1	PRR23C	3	138762733	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	17555811	138762733	59259697	29	8868											
NMNAT3	349565	broad.mit.edu	37	3	139297857	139297857	+	Silent	SNP	G	G	A	rs79043406	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:139297857G>A	uc003etj.3	-	1	190	c.150C>T	c.(148-150)aaC>aaT	p.N50N	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.N13N|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	50					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CATAGGTGTCGTTGACAGGAG	0.572													A	139297857	G	A	139297857	2	1	132	1	0	0	0	0	0	0	0	1	10500	1136	40	1		1	NMNAT3	3	139297857	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	535124	139297857	58724573	30	8869											
MCF2L2	23101	broad.mit.edu	37	3	182897228	182897228	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:182897228C>T	uc003fli.1	-	29	3375	c.3285G>A	c.(3283-3285)ggG>ggA	p.G1095G		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	1095					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGCCGTCGCCCCCGCAGGAG	0.741													T	182897228	C	T	182897228	2	4	132	1	0	0	0	0	0	0	0	1	9380	610	22	3		3	MCF2L2	3	182897228	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	43599371	182897228	15125202	31	8870											
DRD5	1816	broad.mit.edu	37	4	9784506	9784506	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:9784506C>T	uc003gmb.4	+	0	1249	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	285					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CACCAGCCTGCGCGCTTCCAT	0.627													T	9784506	C	T	9784506	3	4	132	1	0	0	0	0	1	0	0	0	4760	768	27	1	855	1	DRD5	4	9784506	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		9784506	181369770	32	8871											
PCDH7	5099	broad.mit.edu	37	4	30724196	30724196	+	Silent	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:30724196G>T	uc003gsk.1	+	0	2160	c.1152G>T	c.(1150-1152)acG>acT	p.T384T	PCDH7_uc011bxx.2_Silent_p.T384T|PCDH7_uc021xnd.1_Silent_p.T384T|PCDH7_uc021xnc.1_Silent_p.T384T	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	384	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGCGCTTCACGGTCATGGCCC	0.652													T	30724196	G	T	30724196	2	4	132	1	0	0	0	0	0	0	0	1	11516	1103	39	5		5	PCDH7	4	30724196	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	20939690	30724196	160430080	33	8872											
OCIAD1	54940	broad.mit.edu	37	4	48852092	48852092	+	Missense_Mutation	SNP	C	C	T	rs150423557		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:48852092C>T	uc010igk.3	+	5	601	c.385C>T	c.(385-387)Cca>Tca	p.P129S	OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyq.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyp.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyr.3_Missense_Mutation_p.P124S|OCIAD1_uc021xoc.1_Missense_Mutation_p.P124S	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	124						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ACGATCTTCACCACCTGGGTA	0.373													T	48852092	C	T	48852092	3	4	132	1	0	0	0	0	1	0	0	0	10817	507	18	3	407	3	OCIAD1	4	48852092	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	18127896	48852092	142302184	34	8873											
SLC39A8	64116	broad.mit.edu	37	4	103184237	103184237	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:103184237G>A	uc003hwb.1	-	7	1876	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Silent_p.L382L|SLC39A8_uc003hwc.2_Silent_p.L449L	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	449						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ACAAGGTAATGAGTAGAATGG	0.348													A	103184237	G	A	103184237	2	1	132	1	0	0	0	0	0	0	0	1	14624	1277	45	3		3	SLC39A8	4	103184237	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	54332145	103184237	87970039	35	8874											
TET2	54790	broad.mit.edu	37	4	106158045	106158045	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:106158045G>C	uc011cez.2	+	2	3414	c.3009G>C	c.(3007-3009)aaG>aaC	p.K1003N	TET2_uc003hxk.3_Missense_Mutation_p.K982N|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.K982N|TET2_uc010ilp.2_Missense_Mutation_p.K982N|TET2_uc021xql.1_Missense_Mutation_p.K982N	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	982					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.W1003*(2)|p.W1003fs*1(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGCCAATTAAGGTGGAACCTG	0.473			"Mis N, F"		MDS								C	106158045	G	C	106158045	3	2	132	1	0	0	0	0	1	0	0	0	15767	991	35	5	2948	5	TET2	4	106158045	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	2973808	106158045	84996231	36	8875											
EGF	1950	broad.mit.edu	37	4	110880565	110880565	+	Silent	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:110880565C>A	uc003hzy.4	+	5	1490	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	EGF_uc011cfu.2_Intron|EGF_uc011cfv.2_Silent_p.A346A	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	346	EGF-like 1.				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			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)	AGGGATACGCCCTAAGTCGAG	0.502													A	110880565	C	A	110880565	2	1	132	1	0	0	0	0	0	0	0	1	4962	610	22	5		5	EGF	4	110880565	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	4722520	110880565	80273711	37	8876											
TBC1D9	23158	broad.mit.edu	37	4	141578365	141578365	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:141578365C>T	uc010ioj.3	-	12	2495	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	741						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTTTATTGGTCACACTGTCTA	0.438													T	141578365	C	T	141578365	2	4	132	1	0	0	0	0	0	0	0	1	15624	813	29	3		3	TBC1D9	4	141578365	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	30697800	141578365	49575911	38	8877											
PCDHB5	26167	broad.mit.edu	37	5	140517019	140517019	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:140517019C>T	uc003liq.3	+	0	2220	c.2003C>T	c.(2002-2004)cCc>cTc	p.P668L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	668	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCCG	0.701													T	140517019	C	T	140517019	3	4	132	1	0	0	0	0	1	0	0	0	11545	623	22	3	2005	3	PCDHB5	5	140517019	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		140517019	40398241	39	8878											
C5orf25	375484	broad.mit.edu	37	5	175717198	175717198	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:175717198G>A	uc003mds.4	+	3	1021	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.R224Q|C5orf25_uc003mdu.1_Missense_Mutation_p.R116Q			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	205	Pro-rich.											all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TGCCCCCTGCGACCTTTGCCA	0.587													A	175717198	G	A	175717198	3	1	132	1	0	0	0	0	1	0	0	0	2288	1073	37	2		2	C5orf25	5	175717198	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	35200179	175717198	5198062	40	8879											
HK3	3101	broad.mit.edu	37	5	176311062	176311062	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:176311062C>T	uc003mfa.3	-	13	2023	c.1931G>A	c.(1930-1932)cGg>cAg	p.R644Q	HK3_uc003mez.3_Missense_Mutation_p.R200Q	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	644	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.R644W(1)		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)			GATGGCTTCCCGCAACAGACT	0.587													T	176311062	C	T	176311062	3	4	132	1	0	0	0	0	1	0	0	0	7192	652	23	2	864	2	HK3	5	176311062	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	593864	176311062	4604198	41	8880											
DSP	1832	broad.mit.edu	37	6	7585169	7585169	+	Silent	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:7585169T>A	uc003mxp.1	+	23	7953	c.7674T>A	c.(7672-7674)gcT>gcA	p.A2558A	DSP_uc003mxq.1_Silent_p.A1959A|DSP_uc021yle.1_Silent_p.A2115A	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2558	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCAATTTGCTGACATGATCT	0.478													A	7585169	T	A	7585169	2	1	132	1	0	0	0	0	0	0	0	1	4781	1567	55	5		5	DSP	6	7585169	Silent	SNP	T	TCGA-14-0813-01A-01W-0424-08		7585169	163529898	42	8881											
TULP1	7287	broad.mit.edu	37	6	35480607	35480607	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:35480607T>C	uc003okv.4	-	0	41	c.29A>G	c.(28-30)gAg>gGg	p.E10G	TULP1_uc003okw.4_Missense_Mutation_p.E10G|TULP1_uc021yyx.1_Missense_Mutation_p.E10G|TULP1_uc021yyy.1_Missense_Mutation_p.E10G	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	10					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCCCACACCTCTCGGAGGGT	0.637													C	35480607	T	C	35480607	3	2	132	1	0	0	0	0	1	0	0	0	16770	1551	54	4	1659	4	TULP1	6	35480607	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	27895438	35480607	135634460	43	8882											
TCTE1	202500	broad.mit.edu	37	6	44255398	44255398	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:44255398C>T	uc003oxi.2	-	1	321	c.165G>A	c.(163-165)agG>agA	p.R55R	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	55										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGATATTGGCCCTGGGATGTG	0.547													T	44255398	C	T	44255398	2	4	132	1	0	0	0	0	0	0	0	1	15714	622	22	3		3	TCTE1	6	44255398	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	8774791	44255398	126859669	44	8883											
LMBRD1	55788	broad.mit.edu	37	6	70411373	70411373	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:70411373T>A	uc003pfa.3	-	10	1321	c.1045A>T	c.(1045-1047)Agt>Tgt	p.S349C	LMBRD1_uc003pez.3_Missense_Mutation_p.S276C|LMBRD1_uc010kal.3_Missense_Mutation_p.S276C|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	349					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	p.S349C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGTGGATTACTCAGGTTAGCT	0.294													A	70411373	T	A	70411373	3	1	132	1	0	0	0	0	1	0	0	0	8842	1551	54	5	601	5	LMBRD1	6	70411373	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	26155975	70411373	100703694	45	8884											
SIM1	6492	broad.mit.edu	37	6	100838922	100838922	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:100838922G>C	uc003pqj.4	-	10	2083	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R	SIM1_uc021zdg.1_Missense_Mutation_p.P539R|SIM1_uc010kcu.3_Missense_Mutation_p.P539R	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	539	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCCGACCCAGGGTCTGGAGA	0.433													C	100838922	G	C	100838922	3	2	132	1	0	0	0	0	1	0	0	0	14323	1000	35	5	688	5	SIM1	6	100838922	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	30427549	100838922	70276145	46	8885											
AIM1	202	broad.mit.edu	37	6	106968654	106968654	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:106968654C>T	uc003prh.3	+	1	3259	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	783							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAGACCCAAACGTGCATCTGC	0.468													T	106968654	C	T	106968654	3	4	132	1	0	0	0	0	1	0	0	0	430	536	19	1	2353	1	AIM1	6	106968654	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	6129732	106968654	64146413	47	8886											
AKD1	221264	broad.mit.edu	37	6	109993127	109993127	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:109993127delT	uc003ptn.2	-	4	403	c.326delA	c.(325-327)cacfs	p.H109fs	AKD1_uc003ptr.4_Frame_Shift_Del_p.H109fs|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	109					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						CATACCAAAGTGACAGACTTC	0.383													-	109993127	T	-	109993127	7	5	132	1	0	1	0	1	0	0	0	0	460	1696	59	0	5569	0	AKD1	6	109993127	Frame_Shift_Del	DEL	T	TCGA-14-0813-01A-01W-0424-08	3024473	109993127	61121940	48	8887											
RFX6	222546	broad.mit.edu	37	6	117203548	117203548	+	Frame_Shift_Del	DEL	C	C	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:117203548delC	uc003pxm.3	+	3	586	c.523delC	c.(523-525)cccfs	p.P175fs		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	175					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCAGAAGTTTCCCCTCCTAAC	0.413													-	117203548	C	-	117203548	7	5	132	1	0	1	0	1	0	0	0	0	13267	855	30	0	537	0	RFX6	6	117203548	Frame_Shift_Del	DEL	C	TCGA-14-0813-01A-01W-0424-08	7210421	117203548	53911519	49	8888											
HOXA9	3205	broad.mit.edu	37	7	27204781	27204781	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:27204781G>A	uc003syt.3	-	0	369	c.296C>T	c.(295-297)gCg>gTg	p.A99V	HOXA9_uc022aar.1_Intron	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	99							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CGCCGCCGCCGCCACGGGCGC	0.721			T	"NUP98, MSI2"	AML*								A	27204781	G	A	27204781	3	1	132	1	0	0	0	0	1	0	0	0	7298	1087	38	1	530	1	HOXA9	7	27204781	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		27204781	131933882	50	8889											
OGDH	4967	broad.mit.edu	37	7	44714133	44714133	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:44714133C>T	uc003tln.3	+	6	1071	c.912C>T	c.(910-912)taC>taT	p.Y304Y	OGDH_uc003tlm.3_Silent_p.Y304Y|OGDH_uc011kbx.2_Silent_p.Y300Y|OGDH_uc011kby.2_Silent_p.Y154Y|OGDH_uc003tlp.3_Silent_p.Y315Y|OGDH_uc011kbz.2_Silent_p.Y99Y|OGDH_uc003tlo.1_Silent_p.Y137Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	304					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCGTGGACTACGTGATCATGG	0.562													T	44714133	C	T	44714133	2	4	132	1	0	0	0	0	0	0	0	1	10839	547	19	1		1	OGDH	7	44714133	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	17509352	44714133	114424530	51	8890											
EGFR	1956	broad.mit.edu	37	7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:55233037C>T	uc003tqk.3	+	14	2033	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(7)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233037	C	T	55233037	3	4	132	1	0	0	0	0	1	0	0	0	4967	652	23	2	1856	2	EGFR	7	55233037	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	10518904	55233037	103905626	52	8891											
NPTX2	4885	broad.mit.edu	37	7	98254345	98254345	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:98254345T>A	uc003upl.2	+	2	932	c.755T>A	c.(754-756)aTc>aAc	p.I252N		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	252	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCCTTCACCATCTGCCTGTGG	0.592													A	98254345	T	A	98254345	3	1	132	1	0	0	0	0	1	0	0	0	10603	1435	50	5	765	5	NPTX2	7	98254345	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	43021308	98254345	60884318	53	8892											
LAMB4	22798	broad.mit.edu	37	7	107706294	107706294	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:107706294G>A	uc010ljo.1	-	20	2833	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S	LAMB4_uc003vey.2_Missense_Mutation_p.P917S|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	917	Laminin EGF-like 9.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGCTTGAGGGATCATCTGGA	0.428													A	107706294	G	A	107706294	3	1	132	1	0	0	0	0	1	0	0	0	8613	1174	41	3	2592	3	LAMB4	7	107706294	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	9451949	107706294	51432369	54	8893											
MET	4233	broad.mit.edu	37	7	116398608	116398608	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:116398608C>A	uc003vij.3	+	8	2385	c.2198C>A	c.(2197-2199)aCa>aAa	p.T733K	MET_uc022akk.1_Missense_Mutation_p.T733K|MET_uc010lkh.3_Missense_Mutation_p.T733K|MET_uc011kng.1_Missense_Mutation_p.T733K|MET_uc011knh.1_Missense_Mutation_p.T733K|MET_uc011kni.2_Missense_Mutation_p.T733K|MET_uc011knj.2_Missense_Mutation_p.T303K	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	733	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AACCGAGAGACAAGCATCTTC	0.368			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				A	116398608	C	A	116398608	3	1	132	1	0	0	0	0	1	0	0	0	9485	478	17	5	2228	5	MET	7	116398608	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	8692314	116398608	42740055	55	8894											
MSR1	4481	broad.mit.edu	37	8	16021738	16021738	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:16021738C>T	uc010lsu.3	-	4	771	c.707G>A	c.(706-708)cGt>cAt	p.R236H	MSR1_uc003wwz.3_Missense_Mutation_p.R218H|MSR1_uc003wxa.3_Missense_Mutation_p.R218H|MSR1_uc003wxb.3_Missense_Mutation_p.R218H|MSR1_uc011kxz.2_5'UTR	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	218					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTGTAAACACGCTCCTCTAA	0.338													T	16021738	C	T	16021738	3	4	132	1	0	0	0	0	1	0	0	0	9886	536	19	1	774	1	MSR1	8	16021738	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		16021738	130342284	56	8895											
ZNF395	55893	broad.mit.edu	37	8	28210755	28210755	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:28210755C>T	uc003xgq.3	-	4	842	c.754G>A	c.(754-756)Gat>Aat	p.D252N	ZNF395_uc003xgt.3_Missense_Mutation_p.D252N|ZNF395_uc003xgr.3_Missense_Mutation_p.D252N|ZNF395_uc003xgs.3_Missense_Mutation_p.D252N	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	252					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AAGCCATGATCAGTTTGGGGA	0.592													T	28210755	C	T	28210755	3	4	132	1	0	0	0	0	1	0	0	0	17878	826	29	3	811	3	ZNF395	8	28210755	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	12189017	28210755	118153267	57	8896											
FER1L6	654463	broad.mit.edu	37	8	125110059	125110059	+	Silent	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:125110059A>G	uc003yqw.3	+	36	5024	c.4818A>G	c.(4816-4818)gaA>gaG	p.E1606E	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1606	C2 6.					integral to membrane		p.T1605N(2)		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)			GGAACACTGAAGATGTCATTT	0.423													G	125110059	A	G	125110059	2	3	132	1	0	0	0	0	0	0	0	1	5815	69	3	4		4	FER1L6	8	125110059	Silent	SNP	A	TCGA-14-0813-01A-01W-0424-08	96899304	125110059	21253963	58	8897											
NFIB	4781	broad.mit.edu	37	9	14155894	14155894	+	Splice_Site	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:14155894T>A	uc022bdo.1	-	4	1152	c.617_splice	c.e4-1	p.G206_splice	NFIB_uc003zld.3_Splice_Site|NFIB_uc003zlf.3_Splice_Site_p.G206_splice|NFIB_uc003zle.3_Splice_Site_p.G206_splice|NFIB_uc022bdp.1_Splice_Site_p.G232_splice|NFIB_uc011lmo.2_Splice_Site_p.G206_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	206					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CAAGGTAACCTGAAAATAAAT	0.274			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								A	14155894	T	A	14155894	5	1	132	1	0	0	0	0	0	0	1	0	10371	1594	55	5	671	5	NFIB	9	14155894	Splice_Site	SNP	T	TCGA-14-0813-01A-01W-0424-08		14155894	127057537	59	8898											
ADAMTSL1	92949	broad.mit.edu	37	9	18777209	18777209	+	Silent	SNP	C	C	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:18777209C>G	uc003zne.4	+	18	3134	c.2982C>G	c.(2980-2982)acC>acG	p.T994T		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	994						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCTGCAGACCCACAAACACC	0.687													G	18777209	C	G	18777209	2	3	132	1	0	0	0	0	0	0	0	1	274	610	22	5		5	ADAMTSL1	9	18777209	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	4621315	18777209	122436222	60	8899											
FAM108B1	51104	broad.mit.edu	37	9	74485080	74485080	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:74485080A>G	uc004ail.3	-	2	1168	c.566T>C	c.(565-567)aTt>aCt	p.I189T	FAM108B1_uc004aim.1_Missense_Mutation_p.I189T	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.	189						extracellular region	hydrolase activity	p.V188D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						AGAATGAAGAATAACAGCAGC	0.423													G	74485080	A	G	74485080	3	3	132	1	0	0	0	0	1	0	0	0	5392	101	4	4	339	4	FAM108B1	9	74485080	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	55707871	74485080	66728351	61	8900											
TMC1	117531	broad.mit.edu	37	9	75406910	75406910	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:75406910C>T	uc004aiz.1	+	15	1873	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	TMC1_uc010moz.1_Missense_Mutation_p.R403C|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R299C|TMC1_uc010mpa.1_Missense_Mutation_p.R299C	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	445					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCTACTGGGACGCATTTTTGC	0.393													T	75406910	C	T	75406910	3	4	132	1	0	0	0	0	1	0	0	0	15981	536	19	1	1379	1	TMC1	9	75406910	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	921830	75406910	65806521	62	8901											
GRIN3A	116443	broad.mit.edu	37	9	104432454	104432454	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:104432454T>G	uc004bbp.2	-	2	2841	c.2240A>C	c.(2239-2241)aAc>aCc	p.N747T	GRIN3A_uc004bbq.1_Missense_Mutation_p.N747T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	747					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGCCCAAAGGTTCATTAGAAA	0.433													G	104432454	T	G	104432454	3	3	132	1	0	0	0	0	1	0	0	0	6783	1725	60	5	1135	5	GRIN3A	9	104432454	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	29025544	104432454	36780977	63	8902											
MUSK	4593	broad.mit.edu	37	9	113445003	113445003	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:113445003A>T	uc022blv.1	+	1	263	c.129A>T	c.(127-129)gaA>gaT	p.E43D	MUSK_uc022blt.1_Missense_Mutation_p.E43D|MUSK_uc004bez.2_Missense_Mutation_p.E43D|MUSK_uc022blu.1_Missense_Mutation_p.E43D	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	43	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TAGTTGAAGAAGTGGCTACTT	0.378													T	113445003	A	T	113445003	3	4	132	1	0	0	0	0	1	0	0	0	9989	69	3	5	135	5	MUSK	9	113445003	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	9012549	113445003	27768428	64	8903											
GDF2	2658	broad.mit.edu	37	10	48413956	48413956	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:48413956C>T	uc001jfa.1	-	1	1072	c.912G>A	c.(910-912)acG>acA	p.T304T		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	304					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGTGGCCATCCGTGTCCTCCT	0.607													T	48413956	C	T	48413956	2	4	132	1	0	0	0	0	0	0	0	1	6314	639	23	2		2	GDF2	10	48413956	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08		48413956	87120791	65	8904											
A1CF	29974	broad.mit.edu	37	10	52566580	52566580	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:52566580G>T	uc001jjj.3	-	12	1882	c.1694C>A	c.(1693-1695)aCc>aAc	p.T565N	A1CF_uc010qho.2_Missense_Mutation_p.T573N|A1CF_uc010qhn.2_Missense_Mutation_p.T565N|A1CF_uc009xov.3_Missense_Mutation_p.T557N|A1CF_uc001jji.3_Missense_Mutation_p.T557N|A1CF_uc001jjh.3_Missense_Mutation_p.T565N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	565					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGTCCAAGGGTTACCGCTTG	0.493													T	52566580	G	T	52566580	3	4	132	1	0	0	0	0	1	0	0	0	2	1261	44	5	94	5	A1CF	10	52566580	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	4152624	52566580	82968167	66	8905											
PTEN	5728	broad.mit.edu	37	10	89692883	89692883	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:89692883C>T	uc001kfb.3	+	4	1399	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	123	Phosphatase tensin-type.		H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.H123Y(10)|p.I122fs*2(6)|p.?(5)|p.R55fs*1(5)|p.H123D(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.I122N(1)|p.I122S(1)|p.I122V(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGCAATTCACTGTAAAGC	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692883	C	T	89692883	3	4	132	1	0	0	0	0	1	0	0	0	12738	826	29	3	385	3	PTEN	10	89692883	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	37126303	89692883	45841864	67	8906											
FAM178A	55719	broad.mit.edu	37	10	102676871	102676871	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:102676871C>T	uc001krs.3	+	2	1271	c.729C>T	c.(727-729)taC>taT	p.Y243Y	FAM178A_uc001krr.1_Silent_p.Y243Y|FAM178A_uc001krt.4_Silent_p.Y243Y|FAM178A_uc001kru.1_Silent_p.Y179Y	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	243																	TAGCTTCTTACTGCAGAGAAC	0.473													T	102676871	C	T	102676871	2	4	132	1	0	0	0	0	0	0	0	1	5503	576	20	3		3	FAM178A	10	102676871	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	12983988	102676871	32857876	68	8907											
PCGF6	84108	broad.mit.edu	37	10	105108477	105108477	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:105108477T>C	uc001kwt.3	-	2	621	c.553A>G	c.(553-555)Ata>Gta	p.I185V	PCGF6_uc001kwu.3_Missense_Mutation_p.I185V|PCGF6_uc009xxk.3_Non-coding_Transcript|PCGF6_uc009xxl.3_Non-coding_Transcript	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	Homo sapiens polycomb group ring finger 6 (PCGF6), transcript variant 1, mRNA.	185					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TCTTACCTTATGTTATAAAGA	0.284													C	105108477	T	C	105108477	3	2	132	1	0	0	0	0	1	0	0	0	11578	1464	51	4	531	4	PCGF6	10	105108477	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	2431606	105108477	30426270	69	8908											
OR56B4	196335	broad.mit.edu	37	11	6129052	6129052	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:6129052T>A	uc010qzx.2	+	0	44	c.44T>A	c.(43-45)aTt>aAt	p.I15N		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCTCCAGATTTCCCAGTTC	0.493													A	6129052	T	A	6129052	3	1	132	1	0	0	0	0	1	0	0	0	11138	1493	52	5	46	5	OR56B4	11	6129052	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08		6129052	128877464	70	8909											
QSER1	79832	broad.mit.edu	37	11	32954286	32954286	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:32954286G>A	uc001mty.3	+	3	1362	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.3_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	365	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGTCCAGCAAGGTTGAGAAAT	0.383													A	32954286	G	A	32954286	2	1	132	1	0	0	0	0	0	0	0	1	12882	991	35	3		3	QSER1	11	32954286	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	26825234	32954286	102052230	71	8910											
OR5AR1	219493	broad.mit.edu	37	11	56431526	56431526	+	Missense_Mutation	SNP	G	G	A	rs143043362		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:56431526G>A	uc010rjm.2	+	0	365	c.365G>A	c.(364-366)cGt>cAt	p.R122H	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCCTATGGTCGTTTTGTGGCC	0.512													A	56431526	G	A	56431526	3	1	132	1	0	0	0	0	1	0	0	0	11145	1145	40	1	367	1	OR5AR1	11	56431526	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	23477240	56431526	78574990	72	8911											
PLAC1L	219990	broad.mit.edu	37	11	59807826	59807826	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:59807826C>T	uc001nol.3	+	0						NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.							extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGGAGGAAAACGAACGCAGCT	0.463													T	59807826	C	T	59807826	1	4	132	1	0	0	0	0	0	0	0	0	12013	551	19	1		1	PLAC1L	11	59807826	Translation_Start_Site	SNP	C	TCGA-14-0813-01A-01W-0424-08	3376300	59807826	75198690	73	8912											
MS4A14	84689	broad.mit.edu	37	11	60183888	60183888	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:60183888T>A	uc001npj.3	+	4	2012	c.1447T>A	c.(1447-1449)Tca>Aca	p.S483T	MS4A14_uc001npi.3_Missense_Mutation_p.S371T|MS4A14_uc001npn.3_Missense_Mutation_p.S221T|MS4A14_uc001npk.3_Missense_Mutation_p.S466T|MS4A14_uc001npl.3_Missense_Mutation_p.S221T|MS4A14_uc001npm.3_Missense_Mutation_p.S221T	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	483	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGAAAATCCTCAAGACGGCA	0.398													A	60183888	T	A	60183888	3	1	132	1	0	0	0	0	1	0	0	0	9858	1551	54	5	1465	5	MS4A14	11	60183888	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	376062	60183888	74822628	74	8913											
AHNAK	79026	broad.mit.edu	37	11	62285625	62285625	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:62285625C>T	uc001ntl.3	-	4	16564	c.16264G>A	c.(16264-16266)Gtc>Atc	p.V5422I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5422					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGCATTGACGTGCAAGTCG	0.532													T	62285625	C	T	62285625	3	4	132	1	0	0	0	0	1	0	0	0	414	536	19	1	1528	1	AHNAK	11	62285625	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	2101737	62285625	72720891	75	8914											
RBM14	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	uc009yrj.3	+	2	1344_1364	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM14_uc009yrk.3_In_Frame_Del_p.AAAAAAA261del|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_In_Frame_Del_p.AAAAAAA286del|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_In_Frame_Del_p.AAAAAAA286del	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.	480	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615													-	66411384	GCTGCTGCTGCAGCAGCAGCC	-	66411364	7	5	132	1	0	1	0	1	0	0	0	0	13115	971	34	0		0	RBM14	11	66411364	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	TCGA-14-0813-01A-01W-0424-08	4125739	66411364	68595152	76	8915											
DHH	50846	broad.mit.edu	37	12	49483743	49483743	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:49483743G>A	uc001rtf.3	-	2	1397	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	364					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						CCTAGCGCGTGCAGCAGTCTC	0.667													A	49483743	G	A	49483743	3	1	132	1	0	0	0	0	1	0	0	0	4483	1319	46	3	104	3	DHH	12	49483743	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		49483743	84368152	77	8916											
ACVRL1	94	broad.mit.edu	37	12	52312886	52312887	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:52312886_52312887TG>GT	uc001rzj.3	+	8	1647_1648	c.1364_1365TG>GT	c.(1363-1365)ctg>cGT	p.L455R	ACVRL1_uc001rzk.3_Missense_Mutation_p.L455R|ACVRL1_uc010snm.2_Missense_Mutation_p.L281R	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	455	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTAACCGGCTGGCTGCAGACC	0.599													GT	52312887	TG	GT	52312886	3	3	132	1	0	0	0	0	1	0	0	0	225	1580	55	5	1394	5	ACVRL1	12	52312886	Missense_Mutation	DNP	TG	TCGA-14-0813-01A-01W-0424-08	2829143	52312886	81539009	78	8917											
TPCN1	53373	broad.mit.edu	37	12	113730818	113730818	+	Silent	SNP	G	G	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:113730818G>C	uc001tux.3	+	26	2583	c.2409G>C	c.(2407-2409)cgG>cgC	p.R803R	TPCN1_uc001tuw.3_Silent_p.R731R|TPCN1_uc010syu.2_5'Flank	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	731						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGGAGGCACGGGGGGCCTCCT	0.617													C	113730818	G	C	113730818	2	2	132	1	0	0	0	0	0	0	0	1	16392	1219	43	5		5	TPCN1	12	113730818	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	61417932	113730818	20121077	79	8918											
ORAI1	84876	broad.mit.edu	37	12	122079191	122079191	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:122079191G>A	uc021rff.1	+	1	747	c.554G>A	c.(553-555)gGc>gAc	p.G185D		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	183					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		ACCGTCATCGGCACGCTGCTC	0.637													A	122079191	G	A	122079191	3	1	132	1	0	0	0	0	1	0	0	0	11257	1203	42	3	560	3	ORAI1	12	122079191	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	8348373	122079191	11772704	80	8919											
ENOX1	55068	broad.mit.edu	37	13	43935415	43935415	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr13:43935415T>C	uc001uza.4	-	6	682	c.382_splice	c.e6+1	p.N128_splice	ENOX1_uc001uzc.4_Splice_Site_p.N128_splice|ENOX1_uc001uzb.4_Splice_Site_p.N128_splice|ENOX1_uc010tfm.1_5'Flank	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	128	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CGTTACTTACTTGGATTTTGA	0.378													C	43935415	T	C	43935415	3	2	132	1	0	0	0	0	1	0	0	0	5126	1623	56	4	1597	4	ENOX1	13	43935415	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08		43935415	71234463	81	8920											
PRKD1	5587	broad.mit.edu	37	14	30068325	30068325	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr14:30068325C>T	uc001wqh.3	-	14	2255	c.2074G>A	c.(2074-2076)Gtg>Atg	p.V692M	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	692	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CGCAAAGCCACGAGTATCTGT	0.368													T	30068325	C	T	30068325	3	4	132	1	0	0	0	0	1	0	0	0	12518	536	19	1	680	1	PRKD1	14	30068325	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		30068325	77281215	82	8921											
MKRN3	7681	broad.mit.edu	37	15	23811197	23811197	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:23811197C>T	uc001ywh.4	+	0	744	c.268C>T	c.(268-270)Cga>Tga	p.R90*	MKRN3_uc001ywi.3_Nonsense_Mutation_p.R90*|MKRN3_uc010ayi.1_Nonsense_Mutation_p.R90*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	90						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.R90L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTTGCCAAGCCGAAGCAGCGG	0.607													T	23811197	C	T	23811197	4	4	132	1	0	0	0	0	0	1	0	0	9608	644	23	2	270	2	MKRN3	15	23811197	Nonsense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		23811197	78720195	83	8922											
FBN1	2200	broad.mit.edu	37	15	48744871	48744871	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:48744871C>A	uc001zwx.2	-	44	5828	c.5433G>T	c.(5431-5433)gaG>gaT	p.E1811D	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1811	EGF-like 30; calcium-binding.				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			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)		CGTTCTGACACTCGTCAATAT	0.488													A	48744871	C	A	48744871	3	1	132	1	0	0	0	0	1	0	0	0	5702	564	20	5	3270	5	FBN1	15	48744871	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	24933674	48744871	53786521	84	8923											
VPS13C	54832	broad.mit.edu	37	15	62292774	62292774	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:62292774C>A	uc002agz.3	-	15	1433	c.1342G>T	c.(1342-1344)Gca>Tca	p.A448S	VPS13C_uc002aha.3_Missense_Mutation_p.A405S|VPS13C_uc002ahb.2_Missense_Mutation_p.A448S|VPS13C_uc002ahc.2_Missense_Mutation_p.A405S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	448					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCAACTTGTGCTTGTTGCCTT	0.308													A	62292774	C	A	62292774	3	1	132	1	0	0	0	0	1	0	0	0	17188	797	28	5	10227	5	VPS13C	15	62292774	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	13547903	62292774	40238618	85	8924											
TLN2	83660	broad.mit.edu	37	15	63058560	63058560	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:63058560G>A	uc002alb.4	+	37	5135	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	TLN2_uc002alc.4_Missense_Mutation_p.G105E|TLN2_uc002ald.3_Missense_Mutation_p.G105E	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1712					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGGAAATCGGACACCTTATC	0.572													A	63058560	G	A	63058560	3	1	132	1	0	0	0	0	1	0	0	0	15945	1174	41	3	5285	3	TLN2	15	63058560	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	765786	63058560	39472832	86	8925											
SH3GL3	6457	broad.mit.edu	37	15	84245409	84245409	+	Silent	SNP	C	C	T	rs138675150	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:84245409C>T	uc002bjw.3	+	5	735	c.540C>T	c.(538-540)gaC>gaT	p.D180D	SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.3_Silent_p.D111D|SH3GL3_uc002bju.3_Silent_p.D188D|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	180	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGATACCAGACGAAGAAGTCA	0.383													T	84245409	C	T	84245409	2	4	132	1	0	0	0	0	0	0	0	1	14252	535	19	1		1	SH3GL3	15	84245409	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	21186849	84245409	18285983	87	8926											
CHD2	1106	broad.mit.edu	37	15	93563361	93563361	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:93563361G>A	uc002bsp.3	+	37	5601	c.5026G>A	c.(5026-5028)Ggg>Agg	p.G1676R	CHD2_uc002bso.1_Missense_Mutation_p.G1676R	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1676					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCACCATTATGGGGACCGGCG	0.527													A	93563361	G	A	93563361	3	1	132	1	0	0	0	0	1	0	0	0	3325	1348	47	3	5176	3	CHD2	15	93563361	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	9317952	93563361	8968031	88	8927											
IL4R	3566	broad.mit.edu	37	16	27363945	27363945	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr16:27363945C>T	uc002don.3	+	6	840	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	IL4R_uc002dom.3_Missense_Mutation_p.R200W|IL4R_uc002dop.4_Missense_Mutation_p.R185W|IL4R_uc010bxy.3_Missense_Mutation_p.R200W|IL4R_uc002doo.3_Missense_Mutation_p.R40W	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	200	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.A199V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTACAGGGCACGGGTGAGGGC	0.552													T	27363945	C	T	27363945	3	4	132	1	0	0	0	0	1	0	0	0	7698	527	19	1	616	1	IL4R	16	27363945	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		27363945	62990808	89	8928											
PLCG2	5336	broad.mit.edu	37	16	81954828	81954828	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr16:81954828A>C	uc002fgt.3	+	20	2439	c.2261A>C	c.(2260-2262)gAc>gCc	p.D754A	PLCG2_uc010chg.1_Missense_Mutation_p.D754A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	754					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCCTCTACGACGTCAGCAGA	0.428													C	81954828	A	C	81954828	3	2	132	1	0	0	0	0	1	0	0	0	12036	275	10	5	2339	5	PLCG2	16	81954828	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	54590883	81954828	8399925	90	8929											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	132	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		7577094	73618116	91	8930											
TP53	7157	broad.mit.edu	37	17	7578211	7578214	+	Frame_Shift_Del	DEL	CGAA	CGAA	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:7578211_7578214delCGAA	uc002gim.2	-	5	829_832	c.635_638delTTCG	c.(634-639)tttcgafs	p.F212fs	TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.3_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.2_Frame_Shift_Del_p.F173fs|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	212	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.R213*(467)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(23)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.R213P(10)|p.T211T(9)|p.0?(8)|p.R213G(8)|p.T211I(7)|p.?(5)|p.F212L(5)|p.R213R(5)|p.R120L(4)|p.F212S(4)|p.R81L(4)|p.T211N(4)|p.R213fs*35(4)|p.T211fs*4(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.T211fs*5(2)|p.R81Q(2)|p.R213>L(2)|p.F212Y(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.T211A(2)|p.T211fs*28(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.F119fs*3(1)|p.R120fs*35(1)|p.F80fs*3(1)|p.R81G(1)|p.T211S(1)|p.T211P(1)|p.R209fs*6(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)		CACACTATGTCGAAAAGTGTTTCT	0.534		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)			-	7578214	CGAA	-	7578211	7	5	132	1	0	1	0	1	0	0	0	0	16378	884	31	0	656	0	TP53	17	7578211	Frame_Shift_Del	DEL	CGAA	TCGA-14-0813-01A-01W-0424-08	1117	7578211	73616999	92	8931											
CDRT1	10626	broad.mit.edu	37	17	15517208	15517208	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:15517208C>T	uc002gor.1	-	8	2077	c.1740G>A	c.(1738-1740)ggG>ggA	p.G580G	CDRT1_uc002gov.4_Silent_p.G270G			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	270										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ATTTGCTGAACCCAGAAGACA	0.488													T	15517208	C	T	15517208	2	4	132	1	0	0	0	0	0	0	0	1	3174	494	18	3		3	CDRT1	17	15517208	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	7938997	15517208	65678002	93	8932											
KPNB1	3837	broad.mit.edu	37	17	45734349	45734349	+	Frame_Shift_Del	DEL	A	A	-			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:45734349delA	uc002ilt.1	+	3	742	c.406delA	c.(406-408)aatfs	p.N136fs	KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	NM_002265	NP_002256	Q14974	IMB1_HUMAN	Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.	136					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GCTGGTGGCCAATGTCACAAA	0.483													-	45734349	A	-	45734349	7	5	132	1	0	1	0	1	0	0	0	0	8435	130	5	0	420	0	KPNB1	17	45734349	Frame_Shift_Del	DEL	A	TCGA-14-0813-01A-01W-0424-08	30217141	45734349	35460861	94	8933											
RBBP8	5932	broad.mit.edu	37	18	20573449	20573449	+	Silent	SNP	C	C	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:20573449C>G	uc002kua.3	+	10	1782	c.1659C>G	c.(1657-1659)ccC>ccG	p.P553P	RBBP8_uc002ktw.3_Silent_p.P553P|RBBP8_uc002kty.3_Silent_p.P553P|RBBP8_uc002ktz.3_Silent_p.P553P|RBBP8_uc010xap.2_5'Flank|RBBP8_uc002ktx.1_Silent_p.P553P	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	553					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.P553P(3)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAGGGGAGCCCTGTTCACAGG	0.438								Homologous recombination					G	20573449	C	G	20573449	2	3	132	1	0	0	0	0	0	0	0	1	13105	668	24	5		5	RBBP8	18	20573449	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08		20573449	57503799	95	8934											
PSMA8	143471	broad.mit.edu	37	18	23738210	23738210	+	Splice_Site	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:23738210T>A	uc002kvq.3	+	4	609	c.495_splice	c.e4+2	p.K165_splice	PSMA8_uc002kvo.3_Splice_Site_p.K121_splice|PSMA8_uc002kvp.3_Splice_Site_p.K159_splice|PSMA8_uc002kvr.3_Splice_Site_p.K133_splice	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	165					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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GCTTGGAAGGTGAGTCATGAA	0.299													A	23738210	T	A	23738210	5	1	132	1	0	0	0	0	0	0	1	0	12673	1710	59	5	511	5	PSMA8	18	23738210	Splice_Site	SNP	T	TCGA-14-0813-01A-01W-0424-08	3164761	23738210	54339038	96	8935											
SERPINB3	6317	broad.mit.edu	37	18	61323223	61323223	+	Missense_Mutation	SNP	C	C	T	rs143634391		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:61323223C>T	uc002lji.3	-	7	985	c.841G>A	c.(841-843)Gat>Aat	p.D281N	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.D229N	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	281					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAGTGTAAATCGACACGTGTC	0.418													T	61323223	C	T	61323223	3	4	132	1	0	0	0	0	1	0	0	0	14102	884	31	2	335	2	SERPINB3	18	61323223	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	37585013	61323223	16754025	97	8936											
FARSA	2193	broad.mit.edu	37	19	13041262	13041262	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:13041262C>T	uc002mvs.2	-	2	413	c.365G>A	c.(364-366)gGg>gAg	p.G122E	FARSA_uc010xmv.1_Missense_Mutation_p.G122E	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	122					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CACCCGGGGCCCGTCAGCCGC	0.637													T	13041262	C	T	13041262	3	4	132	1	0	0	0	0	1	0	0	0	5679	623	22	3	1205	3	FARSA	19	13041262	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		13041262	46087721	98	8937											
ZNF681	148213	broad.mit.edu	37	19	23927229	23927229	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:23927229A>C	uc002nrk.4	-	3	1265	c.1123T>G	c.(1123-1125)Ttt>Gtt	p.F375V	ZNF681_uc002nrl.4_Missense_Mutation_p.F306V|ZNF681_uc002nrj.4_Missense_Mutation_p.F306V	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GACTGCCTAAAGGCTTTGCCA	0.413													C	23927229	A	C	23927229	3	2	132	1	0	0	0	0	1	0	0	0	18085	72	3	5	818	5	ZNF681	19	23927229	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	10885967	23927229	35201754	99	8938											
ZNF569	148266	broad.mit.edu	37	19	37905163	37905163	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:37905163T>C	uc002ogj.3	-	8	1401	c.469A>G	c.(469-471)Aga>Gga	p.R157G	ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Missense_Mutation_p.R133G	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)			AGATTGTGTCTGGAAGGGAAA	0.323													C	37905163	T	C	37905163	3	2	132	1	0	0	0	0	1	0	0	0	17997	1588	55	4	1667	4	ZNF569	19	37905163	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	13977934	37905163	21223820	100	8939											
PRX	57716	broad.mit.edu	37	19	40903183	40903183	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:40903183C>T	uc002onr.3	-	6	1345	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	PRX_uc002onq.3_Missense_Mutation_p.R220H|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	359					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAAACTAAGGCGGGGCATCTT	0.637													T	40903183	C	T	40903183	3	4	132	1	0	0	0	0	1	0	0	0	12642	768	27	1	3313	1	PRX	19	40903183	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	2998020	40903183	18225800	101	8940											
SIGLEC8	27181	broad.mit.edu	37	19	51960834	51960834	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:51960834C>T	uc002pwt.3	-	1	681	c.614G>A	c.(613-615)cGc>cAc	p.R205H	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	205	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACTGAGGAGCGGGCAGTAGT	0.652													T	51960834	C	T	51960834	3	4	132	1	0	0	0	0	1	0	0	0	14314	768	27	1	909	1	SIGLEC8	19	51960834	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	11057651	51960834	7168149	102	8941											
NLRP7	199713	broad.mit.edu	37	19	55451643	55451643	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:55451643C>T	uc002qih.4	-	3	620	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	NLRP7_uc010esk.3_Missense_Mutation_p.V182M|NLRP7_uc002qig.4_Missense_Mutation_p.V182M|NLRP7_uc002qii.4_Missense_Mutation_p.V182M|NLRP7_uc010esl.3_Missense_Mutation_p.V210M	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	182	NACHT.						ATP binding	p.V182M(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTTTCCCCACGCCTGCGGGG	0.562													T	55451643	C	T	55451643	3	4	132	1	0	0	0	0	1	0	0	0	10482	536	19	1	2601	1	NLRP7	19	55451643	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	3490809	55451643	3677340	103	8942											
USP29	57663	broad.mit.edu	37	19	57641754	57641754	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:57641754T>A	uc002qny.3	+	3	2067	c.1711T>A	c.(1711-1713)Tct>Act	p.S571T	USP29_uc021vci.1_Missense_Mutation_p.S571T	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	571					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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;0.026)		GGAGATGATTTCTGAGATCAA	0.468													A	57641754	T	A	57641754	3	1	132	1	0	0	0	0	1	0	0	0	17056	1783	62	5	1713	5	USP29	19	57641754	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	2190111	57641754	1487229	104	8943											
SIRPB1	10326	broad.mit.edu	37	20	1600544	1600544	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:1600544A>G	uc010gai.3	-	0	146	c.47T>C	c.(46-48)cTg>cCg	p.L16P	SIRPB1_uc002wfk.4_Missense_Mutation_p.L16P|SIRPB1_uc002wfl.4_Missense_Mutation_p.L16P	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	16					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAGCGTCATCAGCAGGAAAGG	0.572													G	1600544	A	G	1600544	3	3	132	1	0	0	0	0	1	0	0	0	14333	188	7	4	2306	4	SIRPB1	20	1600544	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08		1600544	61424976	105	8944											
NINL	22981	broad.mit.edu	37	20	25457045	25457045	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:25457045G>A	uc002wux.1	-	16	2956	c.2882C>T	c.(2881-2883)cCc>cTc	p.P961L	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	961					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGCCTCAGGGGTGGCTCCCA	0.692													A	25457045	G	A	25457045	3	1	132	1	0	0	0	0	1	0	0	0	10420	1232	43	3	1298	3	NINL	20	25457045	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	23856501	25457045	37568475	106	8945											
PPP1R16B	26051	broad.mit.edu	37	20	37547256	37547256	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:37547256G>A	uc002xje.3	+	10	1840	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	PPP1R16B_uc010ggc.3_Missense_Mutation_p.A509T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	551					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			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)				AAAGTTCAAGGCCCCCATAGA	0.577													A	37547256	G	A	37547256	3	1	132	1	0	0	0	0	1	0	0	0	12366	1203	42	3	1689	3	PPP1R16B	20	37547256	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	12090211	37547256	25478264	107	8946											
BMP7	655	broad.mit.edu	37	20	55777537	55777537	+	Silent	SNP	G	G	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:55777537G>A	uc010gip.1	-	2	1283	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	BMP7_uc002xyc.3_Silent_p.L252L	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	252					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TCACCATCCAGCGTCTCCACC	0.607													A	55777537	G	A	55777537	2	1	132	1	0	0	0	0	0	0	0	1	1465	962	34	3		3	BMP7	20	55777537	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	18230281	55777537	7247983	108	8947											
CACNG2	10369	broad.mit.edu	37	22	36983511	36983511	+	Splice_Site	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr22:36983511C>T	uc003aps.2	-	2	364	c.295_splice	c.e2+1	p.R99_splice		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	99					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTGCACTCACGGAGGAAATA	0.507													T	36983511	C	T	36983511	5	4	132	1	0	0	0	0	0	0	1	0	2557	550	19	1	687	1	CACNG2	22	36983511	Splice_Site	SNP	C	TCGA-14-0813-01A-01W-0424-08		36983511	14321055	109	8948											
COL4A5	1287	broad.mit.edu	37	X	107827754	107827754	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:107827754T>C	uc022ccg.1	+	18	1234	c.1032_splice	c.e18+1	p.L344_splice	COL4A5_uc004enz.1_Splice_Site_p.L344_splice|COL4A5_uc004eob.1_Splice_Site	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	344	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCTGGACTTGTAAGTTTT	0.343									Alport syndrome with Diffuse Leiomyomatosis				C	107827754	T	C	107827754	3	2	132	1	0	0	0	0	1	0	0	0	3694	1623	56	4	1101	4	COL4A5	23	107827754	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08		107827754	47442806	110	8949											
AFF2	2334	broad.mit.edu	37	X	147743983	147743983	+	Silent	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:147743983C>T	uc004fcp.3	+	2	1214	c.735C>T	c.(733-735)gcC>gcT	p.A245A	AFF2_uc004fco.3_Silent_p.A241A|AFF2_uc004fcq.3_Silent_p.A241A|AFF2_uc004fcr.3_Silent_p.A241A|AFF2_uc011mxb.2_Silent_p.A245A|AFF2_uc004fcs.3_Silent_p.A241A	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	245					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAATTCGCCGTGCAAGCGC	0.458													T	147743983	C	T	147743983	2	4	132	1	0	0	0	0	0	0	0	1	357	639	23	2		2	AFF2	23	147743983	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	39916229	147743983	7526577	111	8950											
MAGEA12	4111	broad.mit.edu	37	X	151900520	151900520	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:151900520C>A	uc022chj.1	-	0	281	c.281G>T	c.(280-282)gGg>gTg	p.G94V	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.G94V|MAGEA12_uc022chi.1_Missense_Mutation_p.G94V|MAGEA12_uc004fgc.3_Missense_Mutation_p.G94V|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	94										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTTGGCCCTTCCTGTTC	0.547													A	151900520	C	A	151900520	3	1	132	1	0	0	0	0	1	0	0	0	9166	623	22	5	667	5	MAGEA12	23	151900520	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	4156537	151900520	3370040	112	8951											
ARHGAP4	393	broad.mit.edu	37	X	153184317	153184317	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:153184317C>T	uc004fjk.2	-	6	1059	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	ARHGAP4_uc011mzf.2_Missense_Mutation_p.R311H|ARHGAP4_uc004fjl.2_Missense_Mutation_p.R374H|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	334					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					GTAGTCAAAGCGCAGCGGGGG	0.617													T	153184317	C	T	153184317	3	4	132	1	0	0	0	0	1	0	0	0	885	768	27	1	1903	1	ARHGAP4	23	153184317	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	1283797	153184317	2086243	113	8952											
ARHGEF16	27237	broad.mit.edu	37	1	3395016	3395016	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:3395016G>A	uc001akg.4	+	11	1902	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	ARHGEF16_uc001aki.3_Missense_Mutation_p.A264T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A264T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A256T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	552	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCAGGACTACGCCCAGATGAA	0.657													A	3395016	G	A	3395016	3	1	133	1	0	0	0	0	1	0	0	0	899	1087	38	1	1696	1	ARHGEF16	1	3395016	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		3395016	245855605	1	8953											
HCRTR1	3061	broad.mit.edu	37	1	32084903	32084903	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:32084903G>A	uc009vtx.2	+	2	495	c.110G>A	c.(109-111)cGc>cAc	p.R37H	HCRTR1_uc001btc.4_Missense_Mutation_p.A11T|HCRTR1_uc001btd.2_Missense_Mutation_p.R37H|HCRTR1_uc010ogl.2_Missense_Mutation_p.R37H	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	37					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TATCTGTGGCGCGATTATCTG	0.607													A	32084903	G	A	32084903	3	1	133	1	0	0	0	0	1	0	0	0	7001	1087	38	1	112	1	HCRTR1	1	32084903	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	28689887	32084903	217165718	2	8954											
KANK4	163782	broad.mit.edu	37	1	62740564	62740564	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:62740564C>T	uc001dah.4	-	2	589	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	71								p.R71Q(6)|p.R71R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGAAGTTTCGGGGCAGAGT	0.557													T	62740564	C	T	62740564	3	4	133	1	0	0	0	0	1	0	0	0	7979	884	31	2	2807	2	KANK4	1	62740564	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	30655661	62740564	186510057	3	8955											
TGFBR3	7049	broad.mit.edu	37	1	92224221	92224221	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:92224221C>T	uc001doh.3	-	3	848	c.333G>A	c.(331-333)gtG>gtA	p.V111V	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Silent_p.V69V|TGFBR3_uc001doi.3_Silent_p.V111V|TGFBR3_uc001doj.3_Silent_p.V111V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	111					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCAGATGCCACACCAGGGGGT	0.507													T	92224221	C	T	92224221	2	4	133	1	0	0	0	0	0	0	0	1	15820	465	17	3		3	TGFBR3	1	92224221	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	29483657	92224221	157026400	4	8956											
PSRC1	84722	broad.mit.edu	37	1	109823399	109823399	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:109823399C>T	uc001dxj.3	-	5	1140	c.994_splice	c.e5+1	p.V332_splice	PSRC1_uc001dxb.3_Splice_Site_p.V132_splice|PSRC1_uc001dxc.3_Splice_Site_p.V302_splice|PSRC1_uc001dxd.3_Splice_Site_p.V302_splice|PSRC1_uc001dxf.3_Splice_Site_p.G268_splice	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	332	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GACCTCTTACCCTTGTGTCCA	0.552													T	109823399	C	T	109823399	3	4	133	1	0	0	0	0	1	0	0	0	12719	637	22	3	141	3	PSRC1	1	109823399	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	17599178	109823399	139427222	5	8957											
SYT6	148281	broad.mit.edu	37	1	114682285	114682285	+	Missense_Mutation	SNP	C	C	T	rs138691067		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:114682285C>T	uc021osa.1	-	1	542	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SYT6_uc021orz.1_Missense_Mutation_p.R70H|SYT6_uc001eev.3_Missense_Mutation_p.R70H	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	155					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R70H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGGTGTGACGCATGATGTG	0.622													T	114682285	C	T	114682285	3	4	133	1	0	0	0	0	1	0	0	0	15475	536	19	1	1092	1	SYT6	1	114682285	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	4858886	114682285	134568336	6	8958											
FLG	2312	broad.mit.edu	37	1	152282266	152282266	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:152282266C>T	uc001ezu.1	-	2	5132	c.5096G>A	c.(5095-5097)cGc>cAc	p.R1699H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1699	Ser-rich.		R -> C (in dbSNP:rs12405278).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1698W(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)			ATCTTGTCTGCGCCCAGTGCC	0.572									Ichthyosis				T	152282266	C	T	152282266	3	4	133	1	0	0	0	0	1	0	0	0	5922	768	27	1	7093	1	FLG	1	152282266	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	37599981	152282266	96968355	7	8959											
PKLR	5313	broad.mit.edu	37	1	155264433	155264433	+	Missense_Mutation	SNP	C	C	T	rs142395015	by1000genomes	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:155264433C>T	uc001fkb.4	-	5	844	c.805G>A	c.(805-807)Gtc>Atc	p.V269I	PKLR_uc001fka.4_Missense_Mutation_p.V238I	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	269					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCTCGGACGTCCTGCTCG	0.672													T	155264433	C	T	155264433	3	4	133	1	0	0	0	0	1	0	0	0	11976	536	19	1	943	1	PKLR	1	155264433	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	2982167	155264433	93986188	8	8960											
KCNH1	3756	broad.mit.edu	37	1	210977475	210977475	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:210977475G>A	uc001hib.2	-	7	1666	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M	KCNH1_uc001hic.2_Missense_Mutation_p.T472M	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	499					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAAAATAGTCGTCACATTCCC	0.478													A	210977475	G	A	210977475	3	1	133	1	0	0	0	0	1	0	0	0	8031	1145	40	1	1489	1	KCNH1	1	210977475	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	55713042	210977475	38273146	9	8961											
AUP1	550	broad.mit.edu	37	2	74756731	74756731	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:74756731G>A	uc002smh.3	-	0					AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_Missense_Mutation_p.P9L|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Missense_Mutation_p.R40W|AUP1_uc021vjm.1_5'UTR|AUP1_uc010yry.2_Missense_Mutation_p.P9L|HTRA2_uc002smi.1_5'UTR|HTRA2_uc002smj.1_5'UTR|HTRA2_uc002smk.1_5'UTR|HTRA2_uc002sml.1_5'UTR|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.							endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GAGCCGCTCCGGCCCCGGCCC	0.711													A	74756731	G	A	74756731	3	1	133	1	0	0	0	0	1	0	0	0	1220	1116	39	2	1254	2	AUP1	2	74756731	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		74756731	168442642	10	8962											
ASTL	431705	broad.mit.edu	37	2	96795617	96795617	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:96795617G>A	uc010yui.2	-	7	820	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	274					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TTGAGGACCCGGGTGATGTCC	0.652													A	96795617	G	A	96795617	3	1	133	1	0	0	0	0	1	0	0	0	1063	1115	39	2	482	2	ASTL	2	96795617	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	22038886	96795617	146403756	11	8963											
ACMSD	130013	broad.mit.edu	37	2	135621053	135621053	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:135621053G>T	uc002ttz.3	+	4	405	c.338G>T	c.(337-339)gGt>gTt	p.G113V	ACMSD_uc002tua.3_Missense_Mutation_p.G55V	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	113					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	p.V112V(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGGTTCGTGGGTCTGGGGACG	0.587													T	135621053	G	T	135621053	3	4	133	1	0	0	0	0	1	0	0	0	144	1261	44	5	356	5	ACMSD	2	135621053	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	38825436	135621053	107578320	12	8964											
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:167263066C>T	uc002udu.2	-	24	4203	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468													T	167263066	C	T	167263066	3	4	133	1	0	0	0	0	1	0	0	0	13923	536	19	1	979	1	SCN7A	2	167263066	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	31642013	167263066	75936307	13	8965											
TTN	7273	broad.mit.edu	37	2	179575562	179575562	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:179575562G>A	uc021vsy.1	-	94	24755	c.24530C>T	c.(24529-24531)aCg>aTg	p.T8177M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4838M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9104	Ig-like 64.						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)			TTGTGTGCCCGTGACGTGGCA	0.522													A	179575562	G	A	179575562	3	1	133	1	0	0	0	0	1	0	0	0	16732	1145	40	1	76327	1	TTN	2	179575562	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	12312496	179575562	63623811	14	8966											
PLCL1	5334	broad.mit.edu	37	2	198968641	198968641	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:198968641G>A	uc010fsp.3	+	4	3484	c.3086G>A	c.(3085-3087)tGg>tAg	p.W1029*	PLCL1_uc002uuv.4_Nonsense_Mutation_p.W950*	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	1029					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCTTTGCTTGGAACATTACA	0.403													A	198968641	G	A	198968641	4	1	133	1	0	0	0	0	0	1	0	0	12039	1357	47	3	3104	3	PLCL1	2	198968641	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	19393079	198968641	44230732	15	8967											
ESPNL	339768	broad.mit.edu	37	2	239039147	239039147	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:239039147C>T	uc002vxq.4	+	8	1902	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	ESPNL_uc010fyw.3_Missense_Mutation_p.R294C	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	598										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACATCTCCCGCCTGGTACG	0.692													T	239039147	C	T	239039147	3	4	133	1	0	0	0	0	1	0	0	0	5255	652	23	2	1826	2	ESPNL	2	239039147	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	40070506	239039147	4160226	16	8968											
CSPG5	10675	broad.mit.edu	37	3	47619104	47619104	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr3:47619104T>C	uc003crp.4	-	1	588	c.412A>G	c.(412-414)Atc>Gtc	p.I138V	CSPG5_uc003crn.3_5'UTR|CSPG5_uc003cro.4_Missense_Mutation_p.I138V|CSPG5_uc021wxh.1_Missense_Mutation_p.I138V|CSPG5_uc021wxi.1_5'UTR|CSPG5_uc011bbb.2_5'UTR	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	138					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGGGCATGATTGACTGCCCG	0.692													C	47619104	T	C	47619104	3	2	133	1	0	0	0	0	1	0	0	0	3961	1493	52	4	1223	4	CSPG5	3	47619104	Missense_Mutation	SNP	T	TCGA-14-0817-01A-01W-0424-08		47619104	150403326	17	8969											
KBTBD12	166348	broad.mit.edu	37	3	127682174	127682174	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr3:127682174C>T	uc010hsr.3	+	3	1638	c.1635C>T	c.(1633-1635)acC>acT	p.T545T	KBTBD12_uc003ejy.4_Silent_p.T152T|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Silent_p.T120T|5S_rRNA_uc021xdi.1_5'Flank	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	545										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CCAATTCCACCAATGCAGGGG	0.532													T	127682174	C	T	127682174	2	4	133	1	0	0	0	0	0	0	0	1	7991	581	21	3		3	KBTBD12	3	127682174	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	80063070	127682174	70340256	18	8970											
CNGA1	1259	broad.mit.edu	37	4	47938532	47938532	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:47938532G>T	uc003gxu.3	-	9	2327	c.2186C>A	c.(2185-2187)aCc>aAc	p.T729N	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.T660N	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	660					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCAACCTTGGTTAATCTTTG	0.463													T	47938532	G	T	47938532	3	4	133	1	0	0	0	0	1	0	0	0	3596	1261	44	5	97	5	CNGA1	4	47938532	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		47938532	143215744	19	8971											
CENPE	1062	broad.mit.edu	37	4	104068560	104068560	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:104068560C>A	uc003hxb.1	-	28	4177	c.4087G>T	c.(4087-4089)Gtt>Ttt	p.V1363F	CENPE_uc003hxc.1_Missense_Mutation_p.V1338F	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1363					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCATGTTTAACTTCAAGGGCT	0.343													A	104068560	C	A	104068560	3	1	133	1	0	0	0	0	1	0	0	0	3230	565	20	5	4102	5	CENPE	4	104068560	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	56130028	104068560	87085716	20	8972											
FBXW7	55294	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:153244185G>A	uc003ims.3	-	11	2134	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_uc011cii.2_Nonsense_Mutation_p.R658*|FBXW7_uc003imt.3_Nonsense_Mutation_p.R658*|FBXW7_uc011cih.2_Nonsense_Mutation_p.R482*|FBXW7_uc003imq.3_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.3_Nonsense_Mutation_p.R540*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	658					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R658*(6)|p.R658Q(1)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								A	153244185	G	A	153244185	4	1	133	1	0	0	0	0	0	1	0	0	5769	1066	37	2	155	2	FBXW7	4	153244185	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	49175625	153244185	37910091	21	8973											
NPY5R	4889	broad.mit.edu	37	4	164271738	164271738	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:164271738G>C	uc003iqn.3	+	3	495	c.313G>C	c.(313-315)Gat>Cat	p.D105H	NPY5R_uc021xtw.1_Missense_Mutation_p.D105H	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	105					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTCTTGCTGGATCAGTGGAT	0.393													C	164271738	G	C	164271738	3	2	133	1	0	0	0	0	1	0	0	0	10610	1174	41	5	315	5	NPY5R	4	164271738	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	11027553	164271738	26882538	22	8974											
SLC9A3	6550	broad.mit.edu	37	5	482707	482707	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr5:482707C>T	uc003jbe.2	-	6	1424	c.1312G>A	c.(1312-1314)Gtc>Atc	p.V438I	SLC9A3_uc011clx.1_Missense_Mutation_p.V438I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	438						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGTGCTGACGAACAGGTTC	0.652													T	482707	C	T	482707	3	4	133	1	0	0	0	0	1	0	0	0	14713	536	19	1	1236	1	SLC9A3	5	482707	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		482707	180432553	23	8975											
GPR98	84059	broad.mit.edu	37	5	89954051	89954051	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr5:89954051A>G	uc003kju.3	+	20	4804	c.4708A>G	c.(4708-4710)Aat>Gat	p.N1570D	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1570					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAAAGTGACAATGCAAATGG	0.343													G	89954051	A	G	89954051	3	3	133	1	0	0	0	0	1	0	0	0	6721	130	5	4	4790	4	GPR98	5	89954051	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08	89471344	89954051	90961209	24	8976											
NUP153	9972	broad.mit.edu	37	6	17616339	17616339	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:17616339G>A	uc003ncd.1	-	21	4617	c.4417C>T	c.(4417-4419)Cgc>Tgc	p.R1473C	NUP153_uc011dje.1_Missense_Mutation_p.R1504C|NUP153_uc010jpl.1_Missense_Mutation_p.R1431C	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	1473					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATTTCCTGCGTCTAACAGCA	0.388													A	17616339	G	A	17616339	3	1	133	1	0	0	0	0	1	0	0	0	10755	1145	40	1	14	1	NUP153	6	17616339	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		17616339	153498728	25	8977											
SUPT3H	8464	broad.mit.edu	37	6	44922308	44922308	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:44922308C>T	uc003oxp.3	-	7	783	c.617G>A	c.(616-618)tGc>tAc	p.C206Y	SUPT3H_uc003oxn.1_Missense_Mutation_p.C206Y|SUPT3H_uc003oxo.3_Missense_Mutation_p.C217Y|SUPT3H_uc011dvv.2_Missense_Mutation_p.C54Y|SUPT3H_uc011dvw.2_Missense_Mutation_p.C120Y	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	288					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATACTGCTGCAGTCCAACCA	0.348													T	44922308	C	T	44922308	3	4	133	1	0	0	0	0	1	0	0	0	15394	710	25	3	352	3	SUPT3H	6	44922308	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	27305969	44922308	126192759	26	8978											
MEP1A	4224	broad.mit.edu	37	6	46761453	46761453	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:46761453G>A	uc011dwh.1	+	2	237	c.229_splice	c.e2+1	p.A77_splice	MEP1A_uc010jzh.1_Splice_Site_p.A49_splice|MEP1A_uc011dwg.1_Splice_Site|MEP1A_uc011dwi.1_Splice_Site	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	49	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AATCAATTTAGGTGAGTTCAA	0.313													A	46761453	G	A	46761453	3	1	133	1	0	0	0	0	1	0	0	0	9475	1014	35	3	155	3	MEP1A	6	46761453	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	1839145	46761453	124353614	27	8979											
HTR1E	3354	broad.mit.edu	37	6	87725079	87725079	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:87725079G>A	uc003pli.3	+	1	730	c.27G>A	c.(25-27)gaG>gaA	p.E9E	HTR1E_uc021zcg.1_Silent_p.E9E	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	9					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTACCACAGAGGCCAGCATGG	0.473													A	87725079	G	A	87725079	2	1	133	1	0	0	0	0	0	0	0	1	7439	991	35	3		3	HTR1E	6	87725079	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	40963626	87725079	83389988	28	8980											
GRM1	2911	broad.mit.edu	37	6	146720758	146720758	+	Silent	SNP	C	C	T	rs148042148		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:146720758C>T	uc010khw.1	+	7	3053	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	GRM1_uc010khv.1_Silent_p.G861G|GRM1_uc003qll.2_Silent_p.G861G|GRM1_uc011edz.1_Silent_p.G861G|GRM1_uc011eea.1_Silent_p.G861G	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	861					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			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)	TGCATGTTGGCGATGGCAAGC	0.522													T	146720758	C	T	146720758	2	4	133	1	0	0	0	0	0	0	0	1	6796	755	27	1		1	GRM1	6	146720758	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	58995679	146720758	24394309	29	8981											
SYNE1	23345	broad.mit.edu	37	6	152763368	152763368	+	Missense_Mutation	SNP	G	G	A	rs140780725		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:152763368G>A	uc021zhb.1	-	28	4073	c.3850C>T	c.(3850-3852)Cgg>Tgg	p.R1284W	SYNE1_uc003qot.4_Missense_Mutation_p.R1291W|SYNE1_uc003qou.4_Missense_Mutation_p.R1284W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1267W|SYNE1_uc003qow.3_Missense_Mutation_p.R579W|SYNE1_uc003qox.1_Missense_Mutation_p.R800W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1284					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			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)		GCTGAGATCCGCTTTGTCTTT	0.512										HNSCC(10;0.0054)			A	152763368	G	A	152763368	3	1	133	1	0	0	0	0	1	0	0	0	15442	1086	38	1	23080	1	SYNE1	6	152763368	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	6042610	152763368	18351699	30	8982											
SLC22A2	6582	broad.mit.edu	37	6	160662608	160662608	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:160662608C>T	uc003qtf.3	-	8	1573	c.1399G>A	c.(1399-1401)Gtc>Atc	p.V467I		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	467					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.G466A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGATGTGGACGCCAAGATTC	0.453													T	160662608	C	T	160662608	3	4	133	1	0	0	0	0	1	0	0	0	14450	536	19	1	280	1	SLC22A2	6	160662608	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	7899240	160662608	10452459	31	8983											
UNC93A	54346	broad.mit.edu	37	6	167728686	167728686	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:167728686G>A	uc003qvq.3	+	7	1295	c.1120G>A	c.(1120-1122)Gtt>Att	p.V374I	UNC93A_uc003qvr.3_Missense_Mutation_p.V332I	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	374						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCTCTACGGCGTTCTGTTTGA	0.567													A	167728686	G	A	167728686	3	1	133	1	0	0	0	0	1	0	0	0	16993	1145	40	1	1150	1	UNC93A	6	167728686	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	7066078	167728686	3386381	32	8984											
CALN1	83698	broad.mit.edu	37	7	71488740	71488740	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:71488740C>A	uc003twb.4	-	4	794	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	CALN1_uc003twa.4_Missense_Mutation_p.D93Y|CALN1_uc003twc.4_Missense_Mutation_p.D93Y	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	93						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.E135K(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCATCAAAATCCACCTGGCCA	0.458													A	71488740	C	A	71488740	3	1	133	1	0	0	0	0	1	0	0	0	2591	855	30	5	394	5	CALN1	7	71488740	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		71488740	87649923	33	8985											
ABCB1	5243	broad.mit.edu	37	7	87148697	87148697	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:87148697G>A	uc003uiz.2	-	23	3365	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	ABCB1_uc011khc.2_Missense_Mutation_p.R894W	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	958	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GCTCCAAACCGGAAACATCCA	0.378													A	87148697	G	A	87148697	3	1	133	1	0	0	0	0	1	0	0	0	40	1115	39	2	994	2	ABCB1	7	87148697	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	15659957	87148697	71989966	34	8986											
PEX1	5189	broad.mit.edu	37	7	92120719	92120719	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:92120719C>A	uc003uly.3	-	20	3401	c.3305G>T	c.(3304-3306)tGt>tTt	p.C1102F	PEX1_uc011khr.2_Missense_Mutation_p.C894F|PEX1_uc010ley.3_Missense_Mutation_p.C1045F|PEX1_uc011khs.2_Missense_Mutation_p.C780F	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	1102					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATCTAAGCCACATTCTCCATC	0.428													A	92120719	C	A	92120719	3	1	133	1	0	0	0	0	1	0	0	0	11735	478	17	5	562	5	PEX1	7	92120719	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	4972022	92120719	67017944	35	8987											
NPTX2	4885	broad.mit.edu	37	7	98254301	98254301	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:98254301C>T	uc003upl.2	+	2	888	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	237	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587													T	98254301	C	T	98254301	2	4	133	1	0	0	0	0	0	0	0	1	10603	547	19	1		1	NPTX2	7	98254301	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	6133582	98254301	60884362	36	8988											
LMOD2	442721	broad.mit.edu	37	7	123302696	123302696	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:123302696G>A	uc003vky.2	+	1	1213	c.1056G>A	c.(1054-1056)atG>atA	p.M352I		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	352						cytoskeleton	actin binding|tropomyosin binding	p.M352I(1)									CAAGAAATATGGATAAACAGA	0.473													A	123302696	G	A	123302696	3	1	133	1	0	0	0	0	1	0	0	0	8857	1348	47	3	1062	3	LMOD2	7	123302696	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	25048395	123302696	35835967	37	8989											
TRPV5	56302	broad.mit.edu	37	7	142622682	142622682	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:142622682C>T	uc003wby.1	-	7	1328	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	TRPV5_uc003wbz.3_Missense_Mutation_p.R355H	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	355					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R355L(2)|p.R355H(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTTGCCACCACGAAACTTAAG	0.517													T	142622682	C	T	142622682	3	4	133	1	0	0	0	0	1	0	0	0	16596	536	19	1	1157	1	TRPV5	7	142622682	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	19319986	142622682	16515981	38	8990											
OR2A12	346525	broad.mit.edu	37	7	143792808	143792808	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:143792808C>T	uc011kty.2	+	0	608	c.608C>T	c.(607-609)gCg>gTg	p.A203V		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCGGGTTCTGCGTTCATCTTA	0.537													T	143792808	C	T	143792808	3	4	133	1	0	0	0	0	1	0	0	0	10975	768	27	1	610	1	OR2A12	7	143792808	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	1170126	143792808	15345855	39	8991											
SSPO	23145	broad.mit.edu	37	7	149502623	149502623	+	Frame_Shift_Del	DEL	C	C	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:149502623delC	uc010lpk.3	+	56	8427	c.8427delC	c.(8425-8427)tgcfs	p.C2809fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2812	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATTCATCCTGCCCAGGAGATG	0.682													-	149502623	C	-	149502623	7	5	133	1	0	1	0	1	0	0	0	0	15188	747	26	0	8658	0	SSPO	7	149502623	Frame_Shift_Del	DEL	C	TCGA-14-0817-01A-01W-0424-08	5709815	149502623	9636040	40	8992											
NOS3	4846	broad.mit.edu	37	7	150703567	150703567	+	Missense_Mutation	SNP	G	G	A	rs145168353	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:150703567G>A	uc003wif.3	+	14	2101	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	NOS3_uc011kuy.2_Missense_Mutation_p.R396Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	602	Flavodoxin-like.		R -> Q (in a colorectal cancer sample; somatic mutation).		anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R602Q(2)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGCTCCCCTCGGCCGGAACAG	0.542													A	150703567	G	A	150703567	3	1	133	1	0	0	0	0	1	0	0	0	10544	1116	39	2	2141	2	NOS3	7	150703567	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	1200944	150703567	8435096	41	8993											
PRSS55	203074	broad.mit.edu	37	8	10390524	10390524	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:10390524C>T	uc003wta.3	+	3	747	c.707C>T	c.(706-708)gCc>gTc	p.A236V	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.A236V|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	236	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.C235G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATGCTGTGTGCCGGATACAAG	0.483													T	10390524	C	T	10390524	3	4	133	1	0	0	0	0	1	0	0	0	12634	739	26	3	721	3	PRSS55	8	10390524	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		10390524	135973498	42	8994											
PHYHIP	9796	broad.mit.edu	37	8	22079191	22079191	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:22079191G>A	uc003xbk.4	-	5	1362	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PHYHIP_uc003xbj.4_Missense_Mutation_p.A223V	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	223										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GTAGAAGTCCGCAAAGTAGAG	0.657													A	22079191	G	A	22079191	3	1	133	1	0	0	0	0	1	0	0	0	11866	1087	38	1	328	1	PHYHIP	8	22079191	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	11688667	22079191	124284831	43	8995											
SULF1	23213	broad.mit.edu	37	8	70536309	70536309	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:70536309G>A	uc003xyg.2	+	13	2288	c.1727G>A	c.(1726-1728)cGt>cAt	p.R576H	SULF1_uc010lza.1_Missense_Mutation_p.R576H|SULF1_uc003xyd.2_Missense_Mutation_p.R576H|SULF1_uc003xye.2_Missense_Mutation_p.R576H|SULF1_uc003xyf.2_Missense_Mutation_p.R576H|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	576					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.R576C(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTGCTAAGCGTCATGATGAA	0.498													A	70536309	G	A	70536309	3	1	133	1	0	0	0	0	1	0	0	0	15369	1145	40	1	1769	1	SULF1	8	70536309	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	48457118	70536309	75827713	44	8996											
SLCO5A1	81796	broad.mit.edu	37	8	70744225	70744225	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:70744225G>A	uc003xyl.3	-	1	1391	c.684C>T	c.(682-684)aaC>aaT	p.N228N	SLCO5A1_uc010lzb.3_Silent_p.N228N|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.N228N|SLCO5A1_uc010lzc.2_Silent_p.N228N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	228						integral to membrane|plasma membrane	transporter activity			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)			GGGCCGAGGCGTTCAACTCTT	0.637													A	70744225	G	A	70744225	2	1	133	1	0	0	0	0	0	0	0	1	14731	1136	40	1		1	SLCO5A1	8	70744225	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	207916	70744225	75619797	45	8997											
KIAA1161	57462	broad.mit.edu	37	9	34372688	34372688	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:34372688G>A	uc003zue.4	-	2	418	c.251C>T	c.(250-252)gCg>gTg	p.A84V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	85					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AAGTCGCTCCGCCTTGCGTAG	0.662													A	34372688	G	A	34372688	3	1	133	1	0	0	0	0	1	0	0	0	8211	1087	38	1	1894	1	KIAA1161	9	34372688	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		34372688	106840743	46	8998											
USP20	10868	broad.mit.edu	37	9	132625554	132625555	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:132625554_132625555delTC	uc004bys.2	+	8	798_799	c.587_588delTC	c.(586-588)gtcfs	p.V196fs	USP20_uc004byr.2_Frame_Shift_Del_p.V196fs|USP20_uc004byt.1_Frame_Shift_Del_p.V196fs	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	196					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAGAAGCTGGTCTCTGAGGTCT	0.589													-	132625555	TC	-	132625554	7	5	133	1	0	1	0	1	0	0	0	0	17049	1667	58	0	613	0	USP20	9	132625554	Frame_Shift_Del	DEL	TC	TCGA-14-0817-01A-01W-0424-08	98252866	132625554	8587877	47	8999											
FAM107B	83641	broad.mit.edu	37	10	14816316	14816316	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:14816316G>A	uc001ina.1	-	0	581	c.347C>T	c.(346-348)gCg>gTg	p.A116V	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCACAGTCCGCCCCATCATC	0.572													A	14816316	G	A	14816316	3	1	133	1	0	0	0	0	1	0	0	0	5390	1087	38	1	593	1	FAM107B	10	14816316	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		14816316	120718431	48	9000											
AGAP5	729092	broad.mit.edu	37	10	75434500	75434500	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:75434500C>T	uc009xri.3	-	7	1959	c.1918G>A	c.(1918-1920)Gca>Aca	p.A640T	AGAP5_uc001juu.4_Missense_Mutation_p.A601T	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	640					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						AGGAGCTGTGCCAGGACCACA	0.667													T	75434500	C	T	75434500	3	4	133	1	0	0	0	0	1	0	0	0	371	739	26	3	146	3	AGAP5	10	75434500	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	60618184	75434500	60100247	49	9001											
C10orf12	26148	broad.mit.edu	37	10	98741767	98741767	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:98741767G>A	uc001kmv.3	+	0	727	c.620G>A	c.(619-621)cGt>cAt	p.R207H	C10orf12_uc009xvg.2_Missense_Mutation_p.R517H	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	207										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAACTGTTCGTACACTGGCC	0.433													A	98741767	G	A	98741767	3	1	133	1	0	0	0	0	1	0	0	0	1589	1145	40	1	622	1	C10orf12	10	98741767	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	23307267	98741767	36792980	50	9002											
FANK1	92565	broad.mit.edu	37	10	127677132	127677132	+	Silent	SNP	G	G	A	rs146192515		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:127677132G>A	uc009yan.3	+	2	308	c.204G>A	c.(202-204)acG>acA	p.T68T	FANK1_uc010quk.1_Silent_p.T62T|FANK1_uc001ljh.4_Silent_p.T68T|FANK1_uc001lji.3_Silent_p.T62T	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	68	Fibronectin type-III.					cytoplasm|nucleus		p.T68T(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATATGCAACGAAGCATGTTG	0.512													A	127677132	G	A	127677132	2	1	133	1	0	0	0	0	0	0	0	1	5672	1045	37	2		2	FANK1	10	127677132	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	28935365	127677132	7857615	51	9003											
INS-IGF2	3630	broad.mit.edu	37	11	2181082	2181082	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:2181082C>T	uc021qcd.1	-	1	571	c.333G>A	c.(331-333)taG>taA	p.*111*	IGF2_uc001lvi.3_Intron|INS-IGF2_uc001lvm.3_Intron|INS-IGF2_uc001lvo.1_Silent_p.*111*|INS-IGF2_uc001lvn.2_Silent_p.*111*|INS-IGF2_uc009ydg.1_Splice_Site_p.*99_splice	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Homo sapiens insulin (INS), transcript variant 3, mRNA.	0					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CGGGCTGCGTCTAGTTGCAGT	0.612													T	2181082	C	T	2181082	2	4	133	1	0	0	0	0	0	0	0	1	7763	924	32	3		3	INS-IGF2	11	2181082	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08		2181082	132825434	52	9004											
CSNK2A1	283106	broad.mit.edu	37	11	11374589	11374589	+	Nonsense_Mutation	SNP	G	G	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:11374589G>C	uc001mjp.3	-	0	316	c.78C>G	c.(76-78)taC>taG	p.Y26*	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	26					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CATGTGACTCGTAATCCCAGT	0.473													C	11374589	G	C	11374589	4	2	133	1	0	0	0	0	0	1	0	0	3957	1160	40	5		5	CSNK2A1	11	11374589	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	9193507	11374589	123631927	53	9005											
SLC5A12	159963	broad.mit.edu	37	11	26734241	26734241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:26734241G>A	uc001mra.2	-	1	665	c.352C>T	c.(352-354)Cga>Tga	p.R118*	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Nonsense_Mutation_p.R118*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	118					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTTGAATCGTAGTTGTAAG	0.418													A	26734241	G	A	26734241	4	1	133	1	0	0	0	0	0	1	0	0	14664	1153	40	1	1560	1	SLC5A12	11	26734241	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	15359652	26734241	108272275	54	9006											
LRRC4C	57689	broad.mit.edu	37	11	40135944	40135944	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:40135944G>T	uc021qgf.1	-	0	1899	c.1899C>A	c.(1897-1899)gaC>gaA	p.D633E	LRRC4C_uc001mxc.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxd.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxa.1_Missense_Mutation_p.D633E|LRRC4C_uc001mxb.1_Missense_Mutation_p.D629E	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	633					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTTGTACATTGTCTTTAGAGT	0.318													T	40135944	G	T	40135944	3	4	133	1	0	0	0	0	1	0	0	0	9008	1368	48	5	27	5	LRRC4C	11	40135944	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	13401703	40135944	94870572	55	9007											
OR5AR1	219493	broad.mit.edu	37	11	56431699	56431699	+	Missense_Mutation	SNP	G	G	A	rs138342920		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:56431699G>A	uc010rjm.2	+	0	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E180K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTTCTTCTGCGAAATCCCACC	0.483													A	56431699	G	A	56431699	3	1	133	1	0	0	0	0	1	0	0	0	11145	1059	37	2	540	2	OR5AR1	11	56431699	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	16295755	56431699	78574817	56	9008											
OR9G4	283189	broad.mit.edu	37	11	56511283	56511283	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:56511283A>T	uc010rjo.2	-	0	5	c.5T>A	c.(4-6)aTt>aAt	p.I2N		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGAAGGGAAAATCATCACTTA	0.383													T	56511283	A	T	56511283	3	4	133	1	0	0	0	0	1	0	0	0	11251	101	4	5	981	5	OR9G4	11	56511283	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08	79584	56511283	78495233	57	9009											
OR4D6	219983	broad.mit.edu	37	11	59224665	59224665	+	Missense_Mutation	SNP	G	G	A	rs144983296	by1000genomes	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:59224665G>A	uc010rku.2	+	0	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						ATCTATCACCGTCCCCAAGTT	0.468													A	59224665	G	A	59224665	3	1	133	1	0	0	0	0	1	0	0	0	11058	1145	40	1	234	1	OR4D6	11	59224665	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	2713382	59224665	75781851	58	9010											
ARHGEF17	9828	broad.mit.edu	37	11	73073628	73073628	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:73073628G>A	uc001otu.3	+	13	4866	c.4845G>A	c.(4843-4845)tcG>tcA	p.S1615S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1615					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			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTGCAGGCTCGGGCTTGGAGA	0.706													A	73073628	G	A	73073628	2	1	133	1	0	0	0	0	0	0	0	1	900	1103	39	2		2	ARHGEF17	11	73073628	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	13848963	73073628	61932888	59	9011											
ODZ4	26011	broad.mit.edu	37	11	78383335	78383335	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:78383335C>T	uc001ozl.4	-	30	5999	c.5536G>A	c.(5536-5538)Gta>Ata	p.V1846I	ODZ4_uc001ozk.4_Missense_Mutation_p.V71I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1846					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGCGTGTTACGCGATCAAAG	0.512													T	78383335	C	T	78383335	3	4	133	1	0	0	0	0	1	0	0	0	10837	536	19	1	2789	1	ODZ4	11	78383335	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	5309707	78383335	56623181	60	9012											
PZP	5858	broad.mit.edu	37	12	9346769	9346769	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:9346769G>A	uc001qvl.3	-	10	1187	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	PZP_uc009zgl.3_Silent_p.D255D	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AATAATTGGCGTCATTCACAG	0.408													A	9346769	G	A	9346769	2	1	133	1	0	0	0	0	0	0	0	1	12869	1136	40	1		1	PZP	12	9346769	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08		9346769	124505126	61	9013											
NR1H4	9971	broad.mit.edu	37	12	100897268	100897268	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:100897268G>A	uc001tht.2	+	0	131	c.103G>A	c.(103-105)Gcg>Acg	p.A35T	NR1H4_uc001thq.2_Intron|NR1H4_uc001thp.2_Intron|NR1H4_uc001thr.2_Intron|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Intron|NR1H4_uc001ths.2_Missense_Mutation_p.A35T	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	35					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.G35G(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TATGAAGCCCGCGAAAGGTAG	0.463													A	100897268	G	A	100897268	3	1	133	1	0	0	0	0	1	0	0	0	10619	1102	38	1		1	NR1H4	12	100897268	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	91550499	100897268	32954627	62	9014											
RBM19	9904	broad.mit.edu	37	12	114377904	114377904	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:114377904G>A	uc009zwi.2	-	14	1943	c.1799C>T	c.(1798-1800)gCg>gTg	p.A600V	RBM19_uc001tvn.4_Missense_Mutation_p.A600V|RBM19_uc001tvm.3_Missense_Mutation_p.A600V	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	600	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			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)					CAGCTGGGCCGCCAGGGTGCC	0.627													A	114377904	G	A	114377904	3	1	133	1	0	0	0	0	1	0	0	0	13121	1087	38	1	1123	1	RBM19	12	114377904	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	13480636	114377904	19473991	63	9015											
CKAP2	26586	broad.mit.edu	37	13	53029668	53029668	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr13:53029668C>T	uc001vgv.2	+	0					CKAP2_uc001vgt.2_5'UTR|CKAP2_uc001vgu.2_5'UTR|CKAP2_uc010tha.1_5'Flank	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.						apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAAGCGGAGACGCATCCCCCG	0.672													T	53029668	C	T	53029668	1	4	133	1	0	0	0	0	0	0	0	0	3442	551	19	1		1	CKAP2	13	53029668	Translation_Start_Site	SNP	C	TCGA-14-0817-01A-01W-0424-08		53029668	62140210	64	9016											
SLC7A8	23428	broad.mit.edu	37	14	23600746	23600746	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:23600746C>T	uc001wiz.3	-	7	1763	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SLC7A8_uc001wiw.3_5'Flank|SLC7A8_uc001wix.3_Missense_Mutation_p.R143Q|SLC7A8_uc010tnk.2_Missense_Mutation_p.R122Q|SLC7A8_uc010tnl.2_Missense_Mutation_p.R241Q|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	346					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTGGCCCTCTCGGGCTCCAGC	0.592													T	23600746	C	T	23600746	3	4	133	1	0	0	0	0	1	0	0	0	14704	884	31	2	586	2	SLC7A8	14	23600746	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		23600746	83748794	65	9017											
SPTB	6710	broad.mit.edu	37	14	65261276	65261276	+	Silent	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:65261276C>T	uc001xht.3	-	11	1755	c.1704G>A	c.(1702-1704)caG>caA	p.Q568Q	SPTB_uc001xhr.3_Silent_p.Q568Q|SPTB_uc001xhs.3_Silent_p.Q568Q|SPTB_uc001xhu.3_Silent_p.Q568Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	568					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			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)		ACTTGTGCTTCTGTAGCAGGT	0.522													T	65261276	C	T	65261276	2	4	133	1	0	0	0	0	0	0	0	1	15117	912	32	3		3	SPTB	14	65261276	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	41660530	65261276	42088264	66	9018											
EXD2	55218	broad.mit.edu	37	14	69702870	69702870	+	Splice_Site	SNP	G	G	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:69702870G>T	uc001xky.3	+	7	1402	c.1156_splice	c.e7+1	p.E386_splice	EXD2_uc001xkt.3_Splice_Site_p.E261_splice|EXD2_uc001xkv.3_Splice_Site_p.E386_splice|EXD2_uc001xkw.3_Splice_Site_p.E261_splice|EXD2_uc001xku.3_Splice_Site_p.E131_splice|EXD2_uc001xkx.3_Splice_Site_p.E261_splice|EXD2_uc010aqt.3_Splice_Site_p.E386_splice|EXD2_uc010tte.2_Splice_Site_p.E386_splice	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	261					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGCATTGGTGGTATGAGATTC	0.478													T	69702870	G	T	69702870	5	4	133	1	0	0	0	0	0	0	1	0	5298	1275	44	5	796	5	EXD2	14	69702870	Splice_Site	SNP	G	TCGA-14-0817-01A-01W-0424-08	4441594	69702870	37646670	67	9019											
CAPN3	825	broad.mit.edu	37	15	42700426	42700426	+	Silent	SNP	G	G	A	rs28364528	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:42700426G>A	uc001zpn.1	+	15	2124	c.1818G>A	c.(1816-1818)tcG>tcA	p.S606S	CAPN3_uc001zpk.1_Silent_p.S373S|CAPN3_uc001zpl.1_Silent_p.S513S|CAPN3_uc010udf.1_Silent_p.S519S|CAPN3_uc010udg.1_Silent_p.S471S|CAPN3_uc001zpo.1_Silent_p.S600S|CAPN3_uc001zpp.1_Intron|CAPN3_uc001zpq.1_Silent_p.S94S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_5'UTR|CAPN3_uc001zps.1_Intron|CAPN3_uc001zpt.1_Intron	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	606	Linker.		S -> L (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCTTCGTTTCGGACAGAGCAA	0.552													A	42700426	G	A	42700426	2	1	133	1	0	0	0	0	0	0	0	1	2628	1103	39	2		2	CAPN3	15	42700426	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08		42700426	59830966	68	9020											
GOLGA6B	55889	broad.mit.edu	37	15	72954655	72954655	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:72954655G>A	uc010uks.1	+	10	951	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	304										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ACAAGATGAGGCCAAACACCT	0.542													A	72954655	G	A	72954655	3	1	133	1	0	0	0	0	1	0	0	0	6558	1203	42	3	952	3	GOLGA6B	15	72954655	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	30254229	72954655	29576737	69	9021											
ACAN	176	broad.mit.edu	37	15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	rs143697605	by1000genomes	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:89391161C>T	uc010upo.1	+	8	1998	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_uc002bmx.3_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	542					cell adhesion		hyaluronic acid binding|sugar binding	p.R542W(2)|p.P541P(1)		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)			TGTGAGCCCCCGGACCCCATG	0.607													T	89391161	C	T	89391161	3	4	133	1	0	0	0	0	1	0	0	0	117	643	23	2	1654	2	ACAN	15	89391161	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	16436506	89391161	13140231	70	9022											
ACAN	176	broad.mit.edu	37	15	89401858	89401858	+	Silent	SNP	A	A	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:89401858A>G	uc010upo.1	+	11	6416	c.6042A>G	c.(6040-6042)gtA>gtG	p.V2014V	ACAN_uc010upp.1_Silent_p.V2014V|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2014					cell adhesion		hyaluronic acid binding|sugar binding			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)			CCACCAATGTAAGTGGAGAAT	0.522													G	89401858	A	G	89401858	2	3	133	1	0	0	0	0	0	0	0	1	117	349	13	4		4	ACAN	15	89401858	Silent	SNP	A	TCGA-14-0817-01A-01W-0424-08	10697	89401858	13129534	71	9023											
TP53	7157	broad.mit.edu	37	17	7578264	7578268	+	Frame_Shift_Del	DEL	GATAA	GATAA	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:7578264_7578268delGATAA	uc002gim.2	-	5	775_779	c.581_585delTTATC	c.(580-585)cttatcfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Del_p.L194fs|TP53_uc002gih.3_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs|TP53_uc010vug.2_Frame_Shift_Del_p.L155fs|DL476358_uc021tph.1_3'UTR	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> 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.I195T(136)|p.L194R(84)|p.H193R(72)|p.I195F(38)|p.H193L(35)|p.H193Y(27)|p.I195N(24)|p.L194F(18)|p.L194P(16)|p.I195S(16)|p.H193P(14)|p.L194H(14)|p.I195fs*14(10)|p.H193D(9)|p.I195fs*52(9)|p.L194L(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.R196*(7)|p.?(6)|p.L101R(5)|p.L62R(5)|p.P191_E198>Q(4)|p.I195M(4)|p.H193N(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.P191fs*53(2)|p.L194fs*14(2)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.I102T(2)|p.H193H(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.I195L(2)|p.L194fs*52(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.L101H(1)|p.I63fs*14(1)|p.I102M(1)|p.I102F(1)|p.I63F(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.L194I(1)|p.I63M(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)		CTTCCACTCGGATAAGATGCTGAGG	0.551		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)			-	7578268	GATAA	-	7578264	7	5	133	1	0	1	0	1	0	0	0	0	16378	1164	41	0	709	0	TP53	17	7578264	Frame_Shift_Del	DEL	GATAA	TCGA-14-0817-01A-01W-0424-08		7578264	73616946	72	9024											
MYH2	4620	broad.mit.edu	37	17	10447064	10447064	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:10447064G>A	uc010coi.3	-	7	833	c.705C>T	c.(703-705)aaC>aaT	p.N235N	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.N235N|MYH2_uc010coj.3_Silent_p.N235N	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	235	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						CGGTCTTGGCGTTGCCAAAGG	0.478													A	10447064	G	A	10447064	2	1	133	1	0	0	0	0	0	0	0	1	10035	1136	40	1		1	MYH2	17	10447064	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	2868800	10447064	70748146	73	9025											
HOXB3	3213	broad.mit.edu	37	17	46628102	46628102	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:46628102G>A	uc002inn.3	-	1	1290	c.890C>T	c.(889-891)gCc>gTc	p.A297V	HOXB3_uc010wlm.2_Missense_Mutation_p.A224V|HOXB3_uc010dbf.3_Missense_Mutation_p.A297V|HOXB3_uc010dbg.3_Missense_Mutation_p.A297V|HOXB3_uc002ino.3_Missense_Mutation_p.A297V|HOXB3_uc010wlk.2_Missense_Mutation_p.A165V|HOXB3_uc010wll.2_Missense_Mutation_p.A224V	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	297					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ATTCTGGTGGGCTTTACCGAA	0.672											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46628102	G	A	46628102	3	1	133	1	0	0	0	0	1	0	0	0	7302	1203	42	3	409	3	HOXB3	17	46628102	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	36181038	46628102	34567108	74	9026											
EPB41L3	23136	broad.mit.edu	37	18	5428401	5428401	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr18:5428401G>A	uc002kmt.1	-	8	1062	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	EPB41L3_uc010wzh.1_Missense_Mutation_p.R326W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R326W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R217W|EPB41L3_uc010dks.1_Missense_Mutation_p.R348W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	326	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.R326R(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATTCGCAGCCGGTCGCGATAT	0.418													A	5428401	G	A	5428401	3	1	133	1	0	0	0	0	1	0	0	0	5154	1115	39	2	2343	2	EPB41L3	18	5428401	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		5428401	72648847	75	9027											
DSG3	1830	broad.mit.edu	37	18	29038467	29038467	+	Silent	SNP	C	C	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr18:29038467C>A	uc002kws.3	+	3	385	c.276C>A	c.(274-276)atC>atA	p.I92I		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	92	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGTGGGAATCGATCAGCCGC	0.438													A	29038467	C	A	29038467	2	1	133	1	0	0	0	0	0	0	0	1	4778	874	31	5		5	DSG3	18	29038467	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	23610066	29038467	49038781	76	9028											
QTRT1	81890	broad.mit.edu	37	19	10823297	10823297	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr19:10823297G>A	uc002mpr.3	+	6	879	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	285					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TTCCCCACACGGACAGCGGTG	0.632													A	10823297	G	A	10823297	3	1	133	1	0	0	0	0	1	0	0	0	12885	1116	39	2	880	2	QTRT1	19	10823297	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		10823297	48305686	77	9029											
PLCB4	5332	broad.mit.edu	37	20	9370528	9370528	+	Silent	SNP	T	T	C			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:9370528T>C	uc021wam.1	+	12	1176	c.1161T>C	c.(1159-1161)gaT>gaC	p.D387D	PLCB4_uc010gbw.1_Silent_p.D387D|PLCB4_uc010gbx.3_Silent_p.D387D|PLCB4_uc021wal.1_Silent_p.D387D|PLCB4_uc002wnh.3_Silent_p.D234D	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	387	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTAAAGGATGTAATTCAAG	0.333													C	9370528	T	C	9370528	2	2	133	1	0	0	0	0	0	0	0	1	12030	1461	51	4		4	PLCB4	20	9370528	Silent	SNP	T	TCGA-14-0817-01A-01W-0424-08		9370528	53654992	78	9030											
WFDC3	140686	broad.mit.edu	37	20	44417585	44417585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:44417585G>A	uc002xpf.1	-	2	280	c.196C>T	c.(196-198)Cga>Tga	p.R66*	DNTTIP1_uc002xpk.3_5'Flank|WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Intron	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	66	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGAATGTCTCGGCAGATCCGA	0.527													A	44417585	G	A	44417585	4	1	133	1	0	0	0	0	0	1	0	0	17350	1124	39	2	519	2	WFDC3	20	44417585	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	35047057	44417585	18607935	79	9031											
ZBP1	81030	broad.mit.edu	37	20	56191402	56191402	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:56191402T>G	uc002xyo.3	-	1	438	c.157A>C	c.(157-159)Aaa>Caa	p.K53Q	ZBP1_uc010gjm.3_Missense_Mutation_p.K53Q|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Missense_Mutation_p.K53Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	53			K -> R (in dbSNP:rs35895307).			cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AACTCCTTTTTCATTCGGTAG	0.597													G	56191402	T	G	56191402	3	3	133	1	0	0	0	0	1	0	0	0	17518	1792	62	5	1237	5	ZBP1	20	56191402	Missense_Mutation	SNP	T	TCGA-14-0817-01A-01W-0424-08	11773817	56191402	6834118	80	9032											
RIPK4	54101	broad.mit.edu	37	21	43161460	43161460	+	Silent	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr21:43161460G>A	uc002yzn.1	-	7	1941	c.1893C>T	c.(1891-1893)aaC>aaT	p.N631N		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	631						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGCAGACGTTGACGTCGG	0.697													A	43161460	G	A	43161460	2	1	133	1	0	0	0	0	0	0	0	1	13383	1136	40	1		1	RIPK4	21	43161460	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08		43161460	4968435	81	9033											
MCM5	4174	broad.mit.edu	37	22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:35796511G>A	uc003anu.4	+	1	174	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_uc003anv.4_Missense_Mutation_p.R27H	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	27					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCAGGCCCGCAAATCGCAG	0.647													A	35796511	G	A	35796511	3	1	133	1	0	0	0	0	1	0	0	0	9390	1087	38	1	82	1	MCM5	22	35796511	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		35796511	15508055	82	9034											
APOBEC3H	164668	broad.mit.edu	37	22	39497965	39497965	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:39497965C>T	uc021wpt.1	+	3	588	c.461C>T	c.(460-462)cCg>cTg	p.P154L	APOBEC3H_uc021wps.1_Intron|APOBEC3H_uc021wpu.1_Missense_Mutation_p.P154L|APOBEC3H_uc021wpv.1_Missense_Mutation_p.P154L	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	154					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537													T	39497965	C	T	39497965	3	4	133	1	0	0	0	0	1	0	0	0	795	652	23	2	471	2	APOBEC3H	22	39497965	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	3701454	39497965	11806601	83	9035											
CENPM	79019	broad.mit.edu	37	22	42342475	42342475	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:42342475A>G	uc003bbn.3	-	1	151	c.83T>C	c.(82-84)cTg>cCg	p.L28P	bK250D10.C22.8_uc003bba.1_Intron|CENPM_uc003bbo.3_Missense_Mutation_p.L28P|CENPM_uc003bbp.1_Missense_Mutation_p.L28P	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN	Homo sapiens centromere protein M (CENPM), transcript variant 1, mRNA.	28					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						CAGCTGCTGCAGAAGAGCATC	0.662											OREG0026600	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	42342475	A	G	42342475	3	3	133	1	0	0	0	0	1	0	0	0	3237	188	7	4	519	4	CENPM	22	42342475	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08	2844510	42342475	8962091	84	9036											
PHEX	5251	broad.mit.edu	37	X	22151701	22151701	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:22151701A>T	uc004dah.3	+	11	1567	c.1364A>T	c.(1363-1365)gAg>gTg	p.E455V	PHEX_uc011mjr.2_Missense_Mutation_p.E455V|PHEX_uc011mjs.2_Missense_Mutation_p.E358V	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	455					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AAAGAAAATGAGTGGATGGAT	0.403													T	22151701	A	T	22151701	3	4	133	1	0	0	0	0	1	0	0	0	11819	304	11	5	1410	5	PHEX	23	22151701	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08		22151701	133118859	85	9037											
GLUD2	2747	broad.mit.edu	37	X	120183085	120183085	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:120183085G>A	uc004eto.3	+	0	1624	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	516					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACAATGGAGCGTTCTGCCAGG	0.468													A	120183085	G	A	120183085	3	1	133	1	0	0	0	0	1	0	0	0	6477	1145	40	1	1549	1	GLUD2	23	120183085	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	98031384	120183085	35087475	86	9038											
ENOX2	10495	broad.mit.edu	37	X	129759413	129759413	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:129759413T>G	uc004evw.3	-	15	2126	c.1708A>C	c.(1708-1710)Acc>Ccc	p.T570P	ENOX2_uc004evx.3_Missense_Mutation_p.T541P|ENOX2_uc004evy.3_Missense_Mutation_p.T541P|ENOX2_uc004evv.3_Missense_Mutation_p.T395P	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	570					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ACATCGCTGGTGCAGATCTGT	0.463													G	129759413	T	G	129759413	3	3	133	1	0	0	0	0	1	0	0	0	5127	1696	59	5	128	5	ENOX2	23	129759413	Missense_Mutation	SNP	T	TCGA-14-0817-01A-01W-0424-08	9576328	129759413	25511147	87	9039											
SLITRK2	84631	broad.mit.edu	37	X	144903994	144903997	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:144903994_144903997delACAG	uc022cfn.1	+	0	51_54	c.51_54delACAG	c.(49-54)ttacagfs	p.L17fs	SLITRK2_uc004fcd.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nsp.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nso.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwq.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwr.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mws.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc004fcg.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwt.2_Frame_Shift_Del_p.L17fs	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	17						integral to membrane		p.Q18Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGATCTTACAGACAGAGAGTC	0.471													-	144903997	ACAG	-	144903994	7	5	133	1	0	1	0	1	0	0	0	0	14743	388	14	0	53	0	SLITRK2	23	144903994	Frame_Shift_Del	DEL	ACAG	TCGA-14-0817-01A-01W-0424-08	15144581	144903994	10366566	88	9040											
L1CAM	3897	broad.mit.edu	37	X	153137805	153137805	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:153137805G>A	uc004fjb.3	-	3	310	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	L1CAM_uc004fjc.3_Missense_Mutation_p.R68C|L1CAM_uc010nuo.3_Missense_Mutation_p.R63C|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc022chz.1_Missense_Mutation_p.R63C	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	68	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					CTCGTCCAGCGGAACCTGTGG	0.637													A	153137805	G	A	153137805	3	1	133	1	0	0	0	0	1	0	0	0	8588	1116	39	2	3671	2	L1CAM	23	153137805	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	8233811	153137805	2132755	89	9041											
FLG2	388698	broad.mit.edu	37	1	152326384	152326384	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr1:152326384T>C	uc001ezw.4	-	2	3951	c.3878A>G	c.(3877-3879)cAc>cGc	p.H1293R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1293							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTGTGTGTGAATGTGTTC	0.473													C	152326384	T	C	152326384	3	2	134	1	0	0	0	0	1	0	0	0	5923	1696	59	4	3301	4	FLG2	1	152326384	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08		152326384	96924237	1	9042											
HHIPL2	79802	broad.mit.edu	37	1	222717002	222717002	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr1:222717002C>T	uc001hnh.1	-	1	909	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	284					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R284H(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCGATTGTGGCGGAATTTGGG	0.483													T	222717002	C	T	222717002	3	4	134	1	0	0	0	0	1	0	0	0	7094	768	27	1	1355	1	HHIPL2	1	222717002	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	70390618	222717002	26533619	2	9043											
PELI1	57162	broad.mit.edu	37	2	64323378	64323378	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:64323378T>C	uc002scs.4	-	4	4610	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	PELI1_uc002sct.4_Missense_Mutation_p.M191V|PELI1_uc002scr.4_Missense_Mutation_p.M12V	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	191					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CGTGGATGCATCACAAGAACA	0.458													C	64323378	T	C	64323378	3	2	134	1	0	0	0	0	1	0	0	0	11721	1435	50	4	693	4	PELI1	2	64323378	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08		64323378	178875995	3	9044											
ARHGAP25	9938	broad.mit.edu	37	2	69053291	69053291	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:69053291G>A	uc010fdg.3	+	10	2325	c.1906G>A	c.(1906-1908)Gtc>Atc	p.V636I	ARHGAP25_uc010yql.2_Missense_Mutation_p.V596I|ARHGAP25_uc002sew.3_Missense_Mutation_p.V628I|ARHGAP25_uc002sex.3_Missense_Mutation_p.V629I	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	635					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAGGAATTTGTCAAATCCAT	0.552													A	69053291	G	A	69053291	3	1	134	1	0	0	0	0	1	0	0	0	874	1377	48	3	1988	3	ARHGAP25	2	69053291	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	4729913	69053291	174146082	4	9045											
YSK4	80122	broad.mit.edu	37	2	135738921	135738921	+	Nonsense_Mutation	SNP	G	G	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:135738921G>T	uc002tue.1	-	8	3421	c.3390C>A	c.(3388-3390)tgC>tgA	p.C1130*	YSK4_uc002tuf.1_Nonsense_Mutation_p.C312*|YSK4_uc010fnc.1_Nonsense_Mutation_p.C264*|YSK4_uc010fnd.1_Nonsense_Mutation_p.C1017*|YSK4_uc010zbg.1_Nonsense_Mutation_p.C262*|YSK4_uc021vpz.1_5'UTR|YSK4_uc002tuh.4_Nonsense_Mutation_p.C858*|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1130	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTCTTGCAAGCATGTCCCCA	0.418													T	135738921	G	T	135738921	4	4	134	1	0	0	0	0	0	1	0	0	17492	963	34	5	604	5	YSK4	2	135738921	Nonsense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	66685630	135738921	107460452	5	9046											
SAG	6295	broad.mit.edu	37	2	234237130	234237130	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:234237130C>T	uc002vuh.2	+	7	907	c.519C>T	c.(517-519)tcC>tcT	p.S173S	SAG_uc010zmq.1_Silent_p.S39S	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	173					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ACAGGAGCTCCGTGCGATTAC	0.592													T	234237130	C	T	234237130	2	4	134	1	0	0	0	0	0	0	0	1	13808	639	23	2		2	SAG	2	234237130	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	98498209	234237130	8962243	6	9047											
NEK4	6787	broad.mit.edu	37	3	52780805	52780807	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:52780805_52780807delCTC	uc003dfq.4	-	8	1823_1825	c.1620_1622delGAG	c.(1618-1623)aggaga>aga	p.540_541RR>R	NEK4_uc011bej.2_In_Frame_Del_p.451_452RR>R|NEK4_uc003dfr.3_In_Frame_Del_p.494_495RR>R	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	540					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGTCTGTTCTCTCCTCTTTTGCC	0.483													-	52780807	CTC	-	52780805	7	5	134	1	0	1	0	1	0	0	0	0	10326	913	32	0	935	0	NEK4	3	52780805	In_Frame_Del	DEL	CTC	TCGA-14-0862-01B-01D-1845-08		52780805	145241625	7	9048											
PRKCD	5580	broad.mit.edu	37	3	53222823	53222823	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:53222823G>A	uc003dgl.3	+	15	1856	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	PRKCD_uc003dgm.3_Silent_p.G501G	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	501	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		ACATATTCGGGGAGAGCCGGG	0.602													A	53222823	G	A	53222823	2	1	134	1	0	0	0	0	0	0	0	1	12509	1219	43	3		3	PRKCD	3	53222823	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08	442018	53222823	144799607	8	9049											
HHLA2	11148	broad.mit.edu	37	3	108076824	108076824	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:108076824C>T	uc003dwz.3	+	5	1233	c.819C>T	c.(817-819)taC>taT	p.Y273Y	HHLA2_uc011bhl.2_Silent_p.Y209Y|HHLA2_uc010hpu.3_Silent_p.Y273Y|HHLA2_uc003dwy.4_Silent_p.Y273Y	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	273	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCTGGCTTACTATCTGAGCT	0.383													T	108076824	C	T	108076824	2	4	134	1	0	0	0	0	0	0	0	1	7095	576	20	3		3	HHLA2	3	108076824	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	54854001	108076824	89945606	9	9050											
PKD2	5311	broad.mit.edu	37	4	88973174	88973174	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:88973174A>G	uc003hre.3	+	6	1667	c.1580A>G	c.(1579-1581)tAc>tGc	p.Y527C	PKD2_uc011cdf.2_5'UTR|PKD2_uc011cdg.2_5'UTR|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	527						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTAACATATACAGAACATCA	0.328													G	88973174	A	G	88973174	3	3	134	1	0	0	0	0	1	0	0	0	11966	391	14	4	1606	4	PKD2	4	88973174	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		88973174	102181102	10	9051											
POU4F2	5458	broad.mit.edu	37	4	147561831	147561831	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:147561831G>T	uc003ikv.3	+	1	1349	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	367					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			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)					TTGCCATTCAGCCTCGGCCCT	0.582													T	147561831	G	T	147561831	3	4	134	1	0	0	0	0	1	0	0	0	12279	962	34	5	1107	5	POU4F2	4	147561831	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	58588657	147561831	43592445	11	9052											
TLR2	7097	broad.mit.edu	37	4	154624496	154624496	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:154624496C>G	uc003inq.3	+	2	656	c.437C>G	c.(436-438)tCt>tGt	p.S146C	TLR2_uc003inr.3_Missense_Mutation_p.S146C|TLR2_uc003ins.3_Missense_Mutation_p.S146C|TLR2_uc021xtl.1_Missense_Mutation_p.S146C	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	146					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.S146C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TCTCTTTTTTCTCATCTCACA	0.373													G	154624496	C	G	154624496	3	3	134	1	0	0	0	0	1	0	0	0	15948	913	32	5	439	5	TLR2	4	154624496	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	7062665	154624496	36529780	12	9053											
PIK3R1	5295	broad.mit.edu	37	5	67589149	67589149	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:67589149A>T	uc003jva.3	+	9	1717	c.1137A>T	c.(1135-1137)aaA>aaT	p.K379N	PIK3R1_uc003jvc.3_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109N|PIK3R1_uc003jve.3_Missense_Mutation_p.K58N|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16N|PIK3R1_uc011crb.2_Missense_Mutation_p.K49N	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAATAACAAATTAATCAAAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			T	67589149	A	T	67589149	3	4	134	1	0	0	0	0	1	0	0	0	11918	98	4	5	1301	5	PIK3R1	5	67589149	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		67589149	113326111	13	9054											
CXXC5	51523	broad.mit.edu	37	5	139060958	139060958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:139060958C>T	uc010jfg.1	+	1	1140	c.850C>T	c.(850-852)Cga>Tga	p.R284*	CXXC5_uc003let.2_Nonsense_Mutation_p.R284*	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	284					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTAGGAATCGAAAGACTGG	0.562													T	139060958	C	T	139060958	4	4	134	1	0	0	0	0	0	1	0	0	4099	876	31	2	852	2	CXXC5	5	139060958	Nonsense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	71471809	139060958	41854302	14	9055											
PCDHB12	56124	broad.mit.edu	37	5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:140590067C>T	uc003liz.3	+	0	1777	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB12_uc011dak.2_Missense_Mutation_p.R193C	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	530	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R530H(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.677													T	140590067	C	T	140590067	3	4	134	1	0	0	0	0	1	0	0	0	11537	652	23	2	1590	2	PCDHB12	5	140590067	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	1529109	140590067	40325193	15	9056											
PCDHGC5	56100	broad.mit.edu	37	5	140788951	140788951	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:140788951T>G	uc003lkj.2	+	0	1182	c.1182T>G	c.(1180-1182)atT>atG	p.I394M	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.I394M	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	397	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I394M(1)		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)			CATTCAAGATTTATTCTTCTT	0.453													G	140788951	T	G	140788951	3	3	134	1	0	0	0	0	1	0	0	0	11571	1829	64	5		5	PCDHGC5	5	140788951	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08	198884	140788951	40126309	16	9057											
BMP5	653	broad.mit.edu	37	6	55739290	55739290	+	Missense_Mutation	SNP	C	C	T	rs148184427		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr6:55739290C>T	uc003pcq.3	-	0	1086	c.374G>A	c.(373-375)cGt>cAt	p.R125H	BMP5_uc011dxf.2_Missense_Mutation_p.R125H	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	125					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGTATGCGACGAGGATACCC	0.522													T	55739290	C	T	55739290	3	4	134	1	0	0	0	0	1	0	0	0	1463	536	19	1	1018	1	BMP5	6	55739290	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		55739290	115375777	17	9058											
LAMA2	3908	broad.mit.edu	37	6	129687471	129687471	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr6:129687471C>T	uc021zfb.1	+	32	4930	c.4825C>T	c.(4825-4827)Ctg>Ttg	p.L1609L	LAMA2_uc003qbn.3_Silent_p.L1609L|LAMA2_uc003qbo.3_Silent_p.L1609L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1609	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.M1608T(1)|p.L1609Q(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATAAAATGCTGTATGGTCT	0.517													T	129687471	C	T	129687471	2	4	134	1	0	0	0	0	0	0	0	1	8606	796	28	3		3	LAMA2	6	129687471	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	73948181	129687471	41427596	18	9059											
CNTNAP2	26047	broad.mit.edu	37	7	147914501	147914501	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr7:147914501G>A	uc003weu.2	+	18	3648	c.3132G>A	c.(3130-3132)ccG>ccA	p.P1044P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1044					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1044L(2)|p.P1044P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCCCACCCGGACCTGGCAC	0.562										HNSCC(39;0.1)			A	147914501	G	A	147914501	2	1	134	1	0	0	0	0	0	0	0	1	3647	1103	39	2		2	CNTNAP2	7	147914501	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		147914501	11224162	19	9060											
ARMC1	55156	broad.mit.edu	37	8	66534548	66534548	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr8:66534548C>G	uc003xvl.3	-	2	480	c.225G>C	c.(223-225)aaG>aaC	p.K75N	ARMC1_uc011leo.2_Missense_Mutation_p.D37H	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	75					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CTCCTTTCATCTTTTCTCTGT	0.338													G	66534548	C	G	66534548	3	3	134	1	0	0	0	0	1	0	0	0	949	912	32	5	643	5	ARMC1	8	66534548	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		66534548	79829474	20	9061											
OR1L1	26737	broad.mit.edu	37	9	125424624	125424624	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr9:125424624G>A	uc022bmz.1	+	0	630	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TAATGACCCCGTTTTCATGCA	0.413													A	125424624	G	A	125424624	2	1	134	1	0	0	0	0	0	0	0	1	10963	1132	40	1		1	OR1L1	9	125424624	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		125424624	15788807	21	9062											
FEZ1	9638	broad.mit.edu	37	11	125359436	125359436	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr11:125359436T>G	uc001qbx.3	-	1	473	c.238A>C	c.(238-240)Aag>Cag	p.K80Q	FEZ1_uc010sbc.2_Missense_Mutation_p.K80Q|FEZ1_uc001qby.2_Missense_Mutation_p.K80Q|FEZ1_uc021qrv.1_Missense_Mutation_p.K80Q	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	Homo sapiens fasciculation and elongation protein zeta 1 (zygin I) (FEZ1), transcript variant 1, mRNA.	80					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TTCTCGGTCTTGGCGTTGTAG	0.463													G	125359436	T	G	125359436	3	3	134	1	0	0	0	0	1	0	0	0	5823	1821	63	5	980	5	FEZ1	11	125359436	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08		125359436	9647080	22	9063											
VWF	7450	broad.mit.edu	37	12	6128780	6128780	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:6128780G>A	uc001qnn.1	-	27	4054	c.3804C>T	c.(3802-3804)caC>caT	p.H1268H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1268			H -> D (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTAGAAATCGTGCAACGGCG	0.617													A	6128780	G	A	6128780	2	1	134	1	0	0	0	0	0	0	0	1	17243	1136	40	1		1	VWF	12	6128780	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		6128780	127723115	23	9064											
MON2	23041	broad.mit.edu	37	12	62954286	62954286	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:62954286C>T	uc001sre.3	+	25	3816	c.3425C>T	c.(3424-3426)gCt>gTt	p.A1142V	MON2_uc010ssn.2_Missense_Mutation_p.A1142V|MON2_uc009zqj.3_Missense_Mutation_p.A1142V|MON2_uc010ssl.2_Missense_Mutation_p.A1070V|MON2_uc010ssm.2_Missense_Mutation_p.A1119V|MON2_uc001srf.3_Missense_Mutation_p.A905V|MON2_uc001srg.3_Missense_Mutation_p.A17V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1143					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTCAAGAGCTTGGGATGTT	0.338													T	62954286	C	T	62954286	3	4	134	1	0	0	0	0	1	0	0	0	9700	797	28	3	3527	3	MON2	12	62954286	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	56825506	62954286	70897609	24	9065											
WSCD2	9671	broad.mit.edu	37	12	108589646	108589646	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:108589646C>T	uc001tms.3	+	1	781	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	WSCD2_uc001tmt.3_Missense_Mutation_p.R13C	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	13						integral to membrane		p.R13H(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						GCGGTACTTCCGCCGGAAACC	0.587													T	108589646	C	T	108589646	3	4	134	1	0	0	0	0	1	0	0	0	17404	652	23	2	39	2	WSCD2	12	108589646	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	45635360	108589646	25262249	25	9066											
TCHP	84260	broad.mit.edu	37	12	110352296	110352296	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:110352296G>A	uc001tpn.3	+	10	1337	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Missense_Mutation_p.R395Q	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	395	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	p.R395*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GAGCAGAACCGACGGGCACAA	0.483													A	110352296	G	A	110352296	3	1	134	1	0	0	0	0	1	0	0	0	15699	1058	37	2	1222	2	TCHP	12	110352296	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	1762650	110352296	23499599	26	9067											
CLIP1	6249	broad.mit.edu	37	12	122825886	122825886	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:122825886A>T	uc001ucg.2	-	10	2020	c.1865T>A	c.(1864-1866)cTa>cAa	p.L622Q	CLIP1_uc001uch.1_Missense_Mutation_p.L611Q|CLIP1_uc001uci.1_Missense_Mutation_p.L576Q|CLIP1_uc001ucj.1_Missense_Mutation_p.L312Q|CLIP1_uc009zxo.1_Missense_Mutation_p.L178Q	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	622					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGACTTCCATAGAGCTATCAC	0.488													T	122825886	A	T	122825886	3	4	134	1	0	0	0	0	1	0	0	0	3532	420	15	5	2515	5	CLIP1	12	122825886	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08	12473590	122825886	11026009	27	9068											
OR11H12	440153	broad.mit.edu	37	14	19378054	19378054	+	Missense_Mutation	SNP	A	A	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr14:19378054A>C	uc010tkp.2	+	0	461	c.461A>C	c.(460-462)cAt>cCt	p.H154P		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478													C	19378054	A	C	19378054	3	2	134	1	0	0	0	0	1	0	0	0	10927	217	8	5	463	5	OR11H12	14	19378054	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		19378054	87971486	28	9069											
TMCO5A	145942	broad.mit.edu	37	15	38228595	38228595	+	Missense_Mutation	SNP	C	C	T	rs138045481		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr15:38228595C>T	uc001zjw.3	+	1	173	c.71C>T	c.(70-72)aCg>aTg	p.T24M	TMCO5A_uc001zjv.1_Missense_Mutation_p.T24M|TMCO5A_uc010bbc.1_Missense_Mutation_p.T24M	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	24						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GAAAGGGATACGCAGAGAATA	0.398													T	38228595	C	T	38228595	3	4	134	1	0	0	0	0	1	0	0	0	15996	536	19	1	73	1	TMCO5A	15	38228595	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		38228595	64302797	29	9070											
USP8	9101	broad.mit.edu	37	15	50788098	50788098	+	Silent	SNP	T	T	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr15:50788098T>C	uc001zym.4	+	17	3212	c.2712T>C	c.(2710-2712)ttT>ttC	p.F904F	USP8_uc001zyl.4_Silent_p.F904F|USP8_uc001zyn.4_Silent_p.F904F|USP8_uc010ufh.2_Silent_p.F798F|AX746640_uc001zyo.1_5'Flank|USP8_uc001zyp.4_Silent_p.F71F	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	904					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCGATGACTTTAAAGCTGCAG	0.348													C	50788098	T	C	50788098	2	2	134	1	0	0	0	0	0	0	0	1	17086	1751	61	4		4	USP8	15	50788098	Silent	SNP	T	TCGA-14-0862-01B-01D-1845-08	12559503	50788098	51743294	30	9071											
ADCY9	115	broad.mit.edu	37	16	4016798	4016798	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:4016798C>T	uc002cvx.3	-	10	3579	c.3040G>A	c.(3040-3042)Gcg>Acg	p.A1014T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1014					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAAGATCCGCTTCCACGTCT	0.567													T	4016798	C	T	4016798	3	4	134	1	0	0	0	0	1	0	0	0	301	797	28	3	1025	3	ADCY9	16	4016798	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		4016798	86337955	31	9072											
CRYM	1428	broad.mit.edu	37	16	21273454	21273454	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:21273454C>A	uc002dim.3	-	7	997	c.699G>T	c.(697-699)tgG>tgT	p.W233C	CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.W191C	NM_001888	NP_001014444	Q14894	CRYM_HUMAN	Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA.	233					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CCAGTTCTCTCCAGTCAGGTC	0.532													A	21273454	C	A	21273454	3	1	134	1	0	0	0	0	1	0	0	0	3921	856	30	5	257	5	CRYM	16	21273454	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	17256656	21273454	69081299	32	9073											
PRSS36	146547	broad.mit.edu	37	16	31151619	31151619	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:31151619C>A	uc002ebd.3	-	13	2344	c.2285G>T	c.(2284-2286)tGt>tTt	p.C762F	PRSS36_uc010vff.2_Missense_Mutation_p.C537F|PRSS36_uc010vfg.2_Missense_Mutation_p.C757F|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	762	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTGTACCTCACACCTGTTCTC	0.527													A	31151619	C	A	31151619	3	1	134	1	0	0	0	0	1	0	0	0	12625	478	17	5	290	5	PRSS36	16	31151619	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	9878165	31151619	59203134	33	9074											
NTN1	9423	broad.mit.edu	37	17	9066306	9066306	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:9066306A>T	uc002glw.4	+	2	1302	c.1195A>T	c.(1195-1197)Aag>Tag	p.K399*		NM_004822	NP_004813	O95631	NET1_HUMAN	Homo sapiens netrin 1 (NTN1), mRNA.	399	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CACCCACCGGAAGGCCTGCAA	0.637													T	9066306	A	T	9066306	4	4	134	1	0	0	0	0	0	1	0	0	10700	247	9	5	1201	5	NTN1	17	9066306	Nonsense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		9066306	72128904	34	9075											
HNF1B	6928	broad.mit.edu	37	17	36059152	36059152	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:36059152A>G	uc002hok.4	-	7	1804	c.1583T>C	c.(1582-1584)tTt>tCt	p.F528S	HNF1B_uc021tvu.1_Missense_Mutation_p.F233S|HNF1B_uc010wdi.2_Missense_Mutation_p.F502S|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	528					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGCAGATGGAAACCGGGAGGT	0.517													G	36059152	A	G	36059152	3	3	134	1	0	0	0	0	1	0	0	0	7252	14	1	4	98	4	HNF1B	17	36059152	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08	26992846	36059152	45136058	35	9076											
TMC8	147138	broad.mit.edu	37	17	76128876	76128876	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:76128876G>A	uc002jup.2	+	4	838	c.456G>A	c.(454-456)caG>caA	p.Q152Q	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	152						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAGCCCTCCAGTGCCCTGGTA	0.592													A	76128876	G	A	76128876	2	1	134	1	0	0	0	0	0	0	0	1	15988	1020	36	3		3	TMC8	17	76128876	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08	40069724	76128876	5066334	36	9077											
DSC1	1823	broad.mit.edu	37	18	28712602	28712602	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr18:28712602A>T	uc002kwn.3	-	13	2429	c.2167T>A	c.(2167-2169)Tgt>Agt	p.C723S	DSC1_uc002kwm.3_Missense_Mutation_p.C723S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	723					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCTGGAAAACATTTCTTGACT	0.328													T	28712602	A	T	28712602	3	4	134	1	0	0	0	0	1	0	0	0	4765	217	8	5	569	5	DSC1	18	28712602	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		28712602	49364646	37	9078											
REXO1	57455	broad.mit.edu	37	19	1827919	1827924	+	In_Frame_Del	DEL	TCTGAG	TCTGAG	-			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:1827919_1827924delTCTGAG	uc002lua.4	-	1	959_964	c.864_869delCTCAGA	c.(862-870)gactcagaa>gaa	p.DS288del	REXO1_uc010dsr.1_In_Frame_Del_p.DS242del	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	288						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		GGCCTCATCTTCTGAGTCTGAGAACC	0.67													-	1827924	TCTGAG	-	1827919	7	5	134	1	0	1	0	1	0	0	0	0	13241	1783	62	0	2856	0	REXO1	19	1827919	In_Frame_Del	DEL	TCTGAG	TCGA-14-0862-01B-01D-1845-08		1827919	57301064	38	9079											
GNA11	2767	broad.mit.edu	37	19	3113330	3113330	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:3113330C>T	uc002lxd.3	+	2	566	c.324C>T	c.(322-324)gcC>gcT	p.A108A		NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	108					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.A108A(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CCTCGCAGGCCAATGCGCTCC	0.662			Mis		uveal melanoma								T	3113330	C	T	3113330	2	4	134	1	0	0	0	0	0	0	0	1	6499	581	21	3		3	GNA11	19	3113330	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	1285411	3113330	56015653	39	9080											
MCOLN1	57192	broad.mit.edu	37	19	7593590	7593590	+	Splice_Site	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:7593590G>A	uc002mgo.3	+	8	1125	c.984_splice	c.e8+1	p.N328_splice	MCOLN1_uc002mgp.3_Splice_Site_p.N293_splice	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	328					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGCAGAACGTGAGGCTTCT	0.637													A	7593590	G	A	7593590	5	1	134	1	0	0	0	0	0	0	1	0	9395	1159	40	1	1015	1	MCOLN1	19	7593590	Splice_Site	SNP	G	TCGA-14-0862-01B-01D-1845-08	4480260	7593590	51535393	40	9081											
MUC16	94025	broad.mit.edu	37	19	9020077	9020077	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:9020077C>T	uc002mkp.3	-	20	37622	c.37418G>A	c.(37417-37419)aGa>aAa	p.R12473K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12475	SEA 3.				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						CAGCCGCTCTCTGTTGAGTCC	0.562													T	9020077	C	T	9020077	3	4	134	1	0	0	0	0	1	0	0	0	9973	913	32	3	6361	3	MUC16	19	9020077	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	1426487	9020077	50108906	41	9082											
OR7G2	390882	broad.mit.edu	37	19	9213273	9213273	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:9213273A>G	uc010xkk.2	-	0	710	c.710T>C	c.(709-711)tTg>tCg	p.L237S		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGTGTAAGACAAAATGATTCC	0.448													G	9213273	A	G	9213273	3	3	134	1	0	0	0	0	1	0	0	0	11223	131	5	4	329	4	OR7G2	19	9213273	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08	193196	9213273	49915710	42	9083											
AKAP8	10270	broad.mit.edu	37	19	15484623	15484623	+	Silent	SNP	A	A	G	rs117407939		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:15484623A>G	uc002nav.3	-	3	415	c.345T>C	c.(343-345)ggT>ggC	p.G115G	AKAP8_uc010dzy.3_5'Flank|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Intron	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	115	Poly-Gly.				signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGCCCTCCCCACCGCCGCCGC	0.632													G	15484623	A	G	15484623	2	3	134	1	0	0	0	0	0	0	0	1	457	146	6	4		4	AKAP8	19	15484623	Silent	SNP	A	TCGA-14-0862-01B-01D-1845-08	6271350	15484623	43644360	43	9084											
ZNF99	7652	broad.mit.edu	37	19	22941396	22941396	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:22941396C>A	uc021urt.1	-	3	1470	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											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)				TTTCTAAGGGCTGAGAAACGC	0.363													A	22941396	C	A	22941396	3	1	134	1	0	0	0	0	1	0	0	0	18201	797	28	5	2082	5	ZNF99	19	22941396	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	7456773	22941396	36187587	44	9085											
FCGBP	8857	broad.mit.edu	37	19	40363235	40363235	+	Silent	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:40363235C>T	uc002omp.4	-	31	14843	c.14835G>A	c.(14833-14835)gtG>gtA	p.V4945V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4945	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCGGCGGTCACCCGCACGC	0.657													T	40363235	C	T	40363235	2	4	134	1	0	0	0	0	0	0	0	1	5778	813	29	3		3	FCGBP	19	40363235	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	17421839	40363235	18765748	45	9086											
KCNG1	3755	broad.mit.edu	37	20	49626630	49626630	+	Silent	SNP	G	G	A			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr20:49626630G>A	uc002xwa.4	-	1	541	c.246C>T	c.(244-246)gaC>gaT	p.D82D	KCNG1_uc002xwb.3_Silent_p.D82D	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	82						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						GCGGGAACTCGTCCAGCGTGG	0.632													A	49626630	G	A	49626630	2	1	134	1	0	0	0	0	0	0	0	1	8027	1136	40	1		1	KCNG1	20	49626630	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		49626630	13398890	46	9087											
LZTR1	8216	broad.mit.edu	37	22	21349215	21349217	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr22:21349215_21349217delGAA	uc002zto.3	+	15	1945_1947	c.1842_1844delGAA	c.(1840-1845)atgaag>atg	p.K615del	LZTR1_uc002ztn.3_In_Frame_Del_p.K574del|LZTR1_uc011ahy.2_In_Frame_Del_p.K596del	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	615					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGATCATGATGAAGGAGTTCGAG	0.601													-	21349217	GAA	-	21349215	7	5	134	1	0	1	0	1	0	0	0	0	9137	1290	45	0	1904	0	LZTR1	22	21349215	In_Frame_Del	DEL	GAA	TCGA-14-0862-01B-01D-1845-08		21349215	29955351	47	9088											
MN1	4330	broad.mit.edu	37	22	28193444	28193444	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr22:28193444C>T	uc003adj.3	-	0	4043	c.3088G>A	c.(3088-3090)Ggc>Agc	p.G1030S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1030							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TTGGCCCCGCCGTCCAGGGAC	0.657			T	ETV6	"AML, meningioma"								T	28193444	C	T	28193444	3	4	134	1	0	0	0	0	1	0	0	0	9673	652	23	2	882	2	MN1	22	28193444	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	6844229	28193444	23111122	48	9089											
MID1	4281	broad.mit.edu	37	X	10535512	10535512	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:10535512C>T	uc004cte.4	-	1	266	c.76G>A	c.(76-78)Gca>Aca	p.A26T	MID1_uc004ctd.4_5'Flank|MID1_uc004ctg.4_Missense_Mutation_p.A26T|MID1_uc004cth.4_Missense_Mutation_p.A26T|MID1_uc004ctk.4_Missense_Mutation_p.A26T|MID1_uc004ctj.4_Missense_Mutation_p.A26T|MID1_uc004cti.4_Missense_Mutation_p.A26T|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004ctm.2_Missense_Mutation_p.A26T|MID1_uc004ctn.2_Missense_Mutation_p.A26T|MID1_uc004cto.2_Missense_Mutation_p.A26T|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.3_Missense_Mutation_p.A26T|MID1_uc004ctu.3_Missense_Mutation_p.A26T|MID1_uc004ctv.3_Missense_Mutation_p.A26T|MID1_uc004ctw.3_Missense_Mutation_p.A26T|MID1_uc010ndy.2_Missense_Mutation_p.A26T|MID1_uc010ndz.1_5'Flank|MID1_uc004cty.3_Missense_Mutation_p.A26T|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_Non-coding_Transcript|MID1_uc004cub.1_Missense_Mutation_p.A26T|MID1_uc004cuc.1_Missense_Mutation_p.A26T|MID1_uc004cud.1_Missense_Mutation_p.A26T|MID1_uc004cue.1_Missense_Mutation_p.A26T|MID1_uc004cuf.1_Missense_Mutation_p.A26T|MID1_uc004cug.1_Missense_Mutation_p.A26T	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	26					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGTGTGCGCAGGGCAGT	0.557													T	10535512	C	T	10535512	3	4	134	1	0	0	0	0	1	0	0	0	9576	768	27	1	1963	1	MID1	23	10535512	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		10535512	144735048	49	9090											
DCAF12L2	340578	broad.mit.edu	37	X	125299277	125299277	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:125299277C>T	uc004euk.2	-	0	804	c.631G>A	c.(631-633)Ggc>Agc	p.G211S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	211										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCGCGGGAGCCGCTCACAGCT	0.647													T	125299277	C	T	125299277	3	4	134	1	0	0	0	0	1	0	0	0	4265	652	23	2	764	2	DCAF12L2	23	125299277	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	114763765	125299277	29971283	50	9091											
FRMD7	90167	broad.mit.edu	37	X	131212955	131212955	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:131212955G>C	uc004ewn.3	-	11	1268	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	FRMD7_uc022cdy.1_Missense_Mutation_p.Q244E|FRMD7_uc011muy.2_Missense_Mutation_p.Q349E	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	364					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTCACATTTTGGTAGTAGCCA	0.488													C	131212955	G	C	131212955	3	2	134	1	0	0	0	0	1	0	0	0	6055	1357	47	5	1058	5	FRMD7	23	131212955	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	5913678	131212955	24057605	51	9092											
FUCA1	2517	broad.mit.edu	37	1	24189688	24189688	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:24189688C>T	uc001bie.3	-	2	681	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	200					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GTTTTGAAGCCATTTTTCTTA	0.388													T	24189688	C	T	24189688	3	4	135	1	0	0	0	0	1	0	0	0	6094	594	21	3	826	3	FUCA1	1	24189688	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		24189688	225060933	1	9093			1	26		2	2	40	C		8.314483e-05
FUCA1	2517	broad.mit.edu	37	1	24189727	24189727	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:24189727C>T	uc001bie.3	-	2	642	c.559G>A	c.(559-561)Gag>Aag	p.E187K	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	187					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TGGAACCACTCTAAGAGTGAG	0.358													T	24189727	C	T	24189727	3	4	135	1	0	0	0	0	1	0	0	0	6094	922	32	3	865	3	FUCA1	1	24189727	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	39	24189727	225060894	2	9094			1	26		2	2	40	C		8.314483e-05
LRRC41	10489	broad.mit.edu	37	1	46745257	46745257	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:46745257C>G	uc001cpn.3	-	7	2094	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	LRRC41_uc010omb.2_Missense_Mutation_p.E684Q	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	684										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGCGCTTCTCAAACAGACGG	0.552													G	46745257	C	G	46745257	3	3	135	1	0	0	0	0	1	0	0	0	8999	835	29	5	400	5	LRRC41	1	46745257	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	22555530	46745257	202505364	3	9095											
IFI16	3428	broad.mit.edu	37	1	158986412	158986412	+	Silent	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:158986412C>G	uc001ftg.3	+	3	761	c.471C>G	c.(469-471)gcC>gcG	p.A157A	IFI16_uc010pis.2_Intron|IFI16_uc010pit.2_Silent_p.A157A|IFI16_uc001ftf.1_Silent_p.A157A	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	157					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CTGCAGGAGCCGGCATGTCCA	0.522													G	158986412	C	G	158986412	2	3	135	1	0	0	0	0	0	0	0	1	7511	639	23	5		5	IFI16	1	158986412	Silent	SNP	C	TCGA-14-0871-01A-01W-0424-08	112241155	158986412	90264209	4	9096											
NR5A2	2494	broad.mit.edu	37	1	200017711	200017711	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:200017711G>C	uc001gvb.3	+	4	1081	c.875G>C	c.(874-876)aGt>aCt	p.S292T	NR5A2_uc001gvc.3_Missense_Mutation_p.S246T|NR5A2_uc009wzh.3_Missense_Mutation_p.S252T|NR5A2_uc010pph.2_Missense_Mutation_p.S220T	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	292					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TATATGGATAGTTACCAGACG	0.488													C	200017711	G	C	200017711	3	2	135	1	0	0	0	0	1	0	0	0	10636	1029	36	5	893	5	NR5A2	1	200017711	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	41031299	200017711	49232910	5	9097											
OR2T3	343173	broad.mit.edu	37	1	248637231	248637231	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:248637231T>C	uc001iel.1	+	0	580	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			GAAGCTCTCCTGCTCTGACGT	0.517													C	248637231	T	C	248637231	3	2	135	1	0	0	0	0	1	0	0	0	11023	1580	55	4	582	4	OR2T3	1	248637231	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	48619520	248637231	613390	6	9098											
APOB	338	broad.mit.edu	37	2	21247830	21247830	+	Missense_Mutation	SNP	C	C	T	rs148190577	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:21247830C>T	uc002red.3	-	15	2539	c.2411G>A	c.(2410-2412)cGc>cAc	p.R804H		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	804				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGCAGAGTGCGGGCACCCAT	0.587													T	21247830	C	T	21247830	3	4	135	1	0	0	0	0	1	0	0	0	785	768	27	1	11336	1	APOB	2	21247830	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		21247830	221951543	7	9099											
NRXN1	9378	broad.mit.edu	37	2	50765702	50765702	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:50765702T>A	uc021vhh.1	-	8	2753	c.1832A>T	c.(1831-1833)gAt>gTt	p.D611V	NRXN1_uc002rxb.4_Missense_Mutation_p.D283V|NRXN1_uc021vhg.1_Missense_Mutation_p.D651V|NRXN1_uc021vhi.1_Missense_Mutation_p.D647V|NRXN1_uc021vhj.1_Missense_Mutation_p.D607V|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	611	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTACAACTCATCATCCAGGTC	0.527													A	50765702	T	A	50765702	3	1	135	1	0	0	0	0	1	0	0	0	10665	1435	50	5	3010	5	NRXN1	2	50765702	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	29517872	50765702	192433671	8	9100											
ARHGAP25	9938	broad.mit.edu	37	2	69046427	69046427	+	Silent	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:69046427T>C	uc010fdg.3	+	8	1595	c.1176T>C	c.(1174-1176)tcT>tcC	p.S392S	ARHGAP25_uc010yql.2_Silent_p.S352S|ARHGAP25_uc002sev.3_Silent_p.S385S|ARHGAP25_uc002sew.3_Silent_p.S384S|ARHGAP25_uc002sex.3_Silent_p.S385S	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	391					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCGAATTTCTAGGACAGACA	0.532													C	69046427	T	C	69046427	2	2	135	1	0	0	0	0	0	0	0	1	874	1509	53	4		4	ARHGAP25	2	69046427	Silent	SNP	T	TCGA-14-0871-01A-01W-0424-08	18280725	69046427	174152946	9	9101											
LMAN2L	81562	broad.mit.edu	37	2	97400183	97400183	+	Silent	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:97400183G>C	uc002swv.3	-	2	423	c.387C>G	c.(385-387)ggC>ggG	p.G129G	LMAN2L_uc002swu.3_Silent_p.G129G|LMAN2L_uc010yuu.2_5'UTR|LMAN2L_uc010yut.2_Missense_Mutation_p.A12G|LMAN2L_uc010yuv.2_5'UTR|LMAN2L_uc010yuw.2_Missense_Mutation_p.A12G|LMAN2L_uc010yux.2_Missense_Mutation_p.A12G	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	129	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGATTGCCAAGCCATCCCCAT	0.473													C	97400183	G	C	97400183	2	2	135	1	0	0	0	0	0	0	0	1	8839	958	34	5		5	LMAN2L	2	97400183	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	28353756	97400183	145799190	10	9102											
MFSD9	84804	broad.mit.edu	37	2	103340253	103340253	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:103340253G>C	uc002tcb.2	-	4	611	c.543C>G	c.(541-543)atC>atG	p.I181M	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.I120M	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	181					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGGGGCCCAAGATGAAGCCCA	0.502													C	103340253	G	C	103340253	3	2	135	1	0	0	0	0	1	0	0	0	9539	932	33	5	889	5	MFSD9	2	103340253	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	5940070	103340253	139859120	11	9103											
FIGN	55137	broad.mit.edu	37	2	164466661	164466661	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:164466661C>T	uc002uck.1	-	2	1992	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	561						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCTGCTTCTCCTAACCACTTG	0.493													T	164466661	C	T	164466661	3	4	135	1	0	0	0	0	1	0	0	0	5891	690	24	3	602	3	FIGN	2	164466661	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	61126408	164466661	78732712	12	9104											
CPO	130749	broad.mit.edu	37	2	207827161	207827161	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:207827161A>T	uc002vby.2	+	6	646	c.600A>T	c.(598-600)caA>caT	p.Q200H		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	200					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GAAACTGCCAAGATCAAACAT	0.448													T	207827161	A	T	207827161	3	4	135	1	0	0	0	0	1	0	0	0	3820	69	3	5	626	5	CPO	2	207827161	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	43360500	207827161	35372212	13	9105											
SPHKAP	80309	broad.mit.edu	37	2	228881144	228881144	+	Missense_Mutation	SNP	C	C	T	rs150119101		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:228881144C>T	uc002vpq.2	-	6	4473	c.4426G>A	c.(4426-4428)Gtg>Atg	p.V1476M	SPHKAP_uc002vpp.2_Missense_Mutation_p.V1476M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V1476M	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1476						cytoplasm	protein binding	p.A1475V(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGCGCTCACGGCTGTGTCT	0.463													T	228881144	C	T	228881144	3	4	135	1	0	0	0	0	1	0	0	0	15047	536	19	1	700	1	SPHKAP	2	228881144	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	21053983	228881144	14318229	14	9106											
COL7A1	1294	broad.mit.edu	37	3	48612126	48612126	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:48612126C>G	uc003ctz.2	-	76	6378	c.6377G>C	c.(6376-6378)gGt>gCt	p.G2126A		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2126	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			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)		TCCTTTGGGACCTTGGTCACC	0.607													G	48612126	C	G	48612126	3	3	135	1	0	0	0	0	1	0	0	0	3704	507	18	5	2625	5	COL7A1	3	48612126	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		48612126	149410304	15	9107											
C3orf38	285237	broad.mit.edu	37	3	88205314	88205314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:88205314G>A	uc003dqw.3	+	2	829	c.519G>A	c.(517-519)tgG>tgA	p.W173*		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	173					apoptosis			p.W171*(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCACTTCTGGCATGATGTGA	0.418													A	88205314	G	A	88205314	4	1	135	1	0	0	0	0	0	1	0	0	2228	1212	42	3	529	3	C3orf38	3	88205314	Nonsense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	39593188	88205314	109817116	16	9108											
DRD3	1814	broad.mit.edu	37	3	113847759	113847759	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:113847759C>T	uc003ebd.2	-	8	1430	c.1007_splice	c.e8-1	p.G336_splice	DRD3_uc010hqn.1_Splice_Site_p.G336_splice|DRD3_uc003ebb.1_Splice_Site_p.G303_splice|DRD3_uc003ebc.1_Splice_Site_p.G336_splice	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	336					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AATGAAGGCCCCTAAGTTGCC	0.478													T	113847759	C	T	113847759	3	4	135	1	0	0	0	0	1	0	0	0	4758	637	22	3	199	3	DRD3	3	113847759	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	25642445	113847759	84174671	17	9109											
PPM1L	151742	broad.mit.edu	37	3	160786689	160786689	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:160786689A>G	uc003fdr.3	+	3	928	c.827A>G	c.(826-828)aAc>aGc	p.N276S	PPM1L_uc003fds.3_Missense_Mutation_p.N97S|PPM1L_uc003fdt.3_Missense_Mutation_p.N149S|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	276	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAAAATCTCAACGTGGTCATC	0.522													G	160786689	A	G	160786689	3	3	135	1	0	0	0	0	1	0	0	0	12344	43	2	4	841	4	PPM1L	3	160786689	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	46938930	160786689	37235741	18	9110											
PCYT1A	5130	broad.mit.edu	37	3	195969479	195969479	+	Nonsense_Mutation	SNP	A	A	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:195969479A>C	uc003fwg.3	-	6	692	c.519T>G	c.(517-519)taT>taG	p.Y173*	PCYT1A_uc003fwh.3_Nonsense_Mutation_p.Y173*	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	173	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CAGCAGATGAATAAGGAATAT	0.428													C	195969479	A	C	195969479	4	2	135	1	0	0	0	0	0	1	0	0	11610	108	4	5	600	5	PCYT1A	3	195969479	Nonsense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	35182790	195969479	2052951	19	9111											
CYP2U1	113612	broad.mit.edu	37	4	108866315	108866315	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:108866315C>T	uc003hyp.3	+	1	763	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CYP2U1_uc011cfi.2_Missense_Mutation_p.A18V	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	227					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A227A(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438													T	108866315	C	T	108866315	3	4	135	1	0	0	0	0	1	0	0	0	4175	739	26	3	686	3	CYP2U1	4	108866315	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		108866315	82287961	20	9112											
ANK2	287	broad.mit.edu	37	4	114279919	114279919	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:114279919T>C	uc003ibe.4	+	37	10245	c.10145T>C	c.(10144-10146)aTc>aCc	p.I3382T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.I3397T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3349					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		ATGGCAAGCATCGCACCAGAT	0.463													C	114279919	T	C	114279919	3	2	135	1	0	0	0	0	1	0	0	0	621	1435	50	4	10360	4	ANK2	4	114279919	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	5413604	114279919	76874357	21	9113											
MLF1IP	79682	broad.mit.edu	37	4	185631267	185631267	+	Silent	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:185631267A>G	uc003iwq.3	-	7	826	c.756T>C	c.(754-756)aaT>aaC	p.N252N	MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwr.1_Silent_p.N252N	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.	252					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCAAAACAATATTCAACTCCT	0.348													G	185631267	A	G	185631267	2	3	135	1	0	0	0	0	0	0	0	1	9615	446	16	4		4	MLF1IP	4	185631267	Silent	SNP	A	TCGA-14-0871-01A-01W-0424-08	71351348	185631267	5523009	22	9114											
MTRR	4552	broad.mit.edu	37	5	7875377	7875377	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:7875377G>A	uc003jed.3	+	3	401	c.371G>A	c.(370-372)gGt>gAt	p.G124D	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Missense_Mutation_p.G97D|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	124	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAGGTCTCGGTGATTCAGAA	0.348													A	7875377	G	A	7875377	3	1	135	1	0	0	0	0	1	0	0	0	9961	1261	44	3	385	3	MTRR	5	7875377	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08		7875377	173039883	23	9115											
MARCH6	10299	broad.mit.edu	37	5	10423856	10423857	+	Frame_Shift_Ins	INS	-	-	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:10423856_10423857insT	uc003jet.1	+	22	2476_2477	c.2293_2294insT	c.(2293-2295)cttfs	p.L765fs	MARCH6_uc011cmu.1_Frame_Shift_Ins_p.L717fs|MARCH6_uc003jeu.1_Frame_Shift_Ins_p.L463fs|MARCH6_uc011cmv.1_Frame_Shift_Ins_p.L660fs	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	765					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGACTGGGCACTTGGAGTCCTG	0.361													T	10423857	-	T	10423856	7	5	135	1	0	1	1	0	0	0	0	0	9305	565	20	0	2383	0	MARCH6	5	10423856	Frame_Shift_Ins	INS	-	TCGA-14-0871-01A-01W-0424-08	2548479	10423856	170491404	24	9116											
RAB24	53917	broad.mit.edu	37	5	176729179	176729179	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:176729179T>C	uc003mfv.3	-	7	803	c.434_splice	c.e7-1	p.N145_splice	RAB24_uc003mfw.3_Splice_Site_p.N145_splice|PRELID1_uc003mfx.3_5'Flank|PRELID1_uc021yiq.1_5'Flank	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	Homo sapiens RAB24, member RAS oncogene family (RAB24), transcript variant 2, mRNA.	145					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)			AGCTTTGATATCTGTAAAGAG	0.502													C	176729179	T	C	176729179	3	2	135	1	0	0	0	0	1	0	0	0	12911	1449	50	4	189	4	RAB24	5	176729179	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	166305323	176729179	4186081	25	9117											
HUS1B	135458	broad.mit.edu	37	6	656375	656375	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:656375G>A	uc003mtg.3	-	0	590	c.570C>T	c.(568-570)acC>acT	p.T190T	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	190										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CTATACTCAGGGTCATCCTGC	0.562													A	656375	G	A	656375	2	1	135	1	0	0	0	0	0	0	0	1	7460	1219	43	3		3	HUS1B	6	656375	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08		656375	170458692	26	9118											
TTBK1	84630	broad.mit.edu	37	6	43250498	43250498	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:43250498G>T	uc003ouq.1	+	13	2299	c.2020G>T	c.(2020-2022)Ggc>Tgc	p.G674C	TTBK1_uc021yzs.1_5'UTR	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	674						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G674G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGGTGAATGGCCTCCCACG	0.612													T	43250498	G	T	43250498	3	4	135	1	0	0	0	0	1	0	0	0	16673	1348	47	5	2070	5	TTBK1	6	43250498	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	42594123	43250498	127864569	27	9119											
SYNE1	23345	broad.mit.edu	37	6	152779932	152779932	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:152779932C>G	uc021zhb.1	-	19	2751	c.2528G>C	c.(2527-2529)cGt>cCt	p.R843P	SYNE1_uc003qot.4_Missense_Mutation_p.R850P|SYNE1_uc003qou.4_Missense_Mutation_p.R843P|SYNE1_uc010kjb.1_Missense_Mutation_p.R826P|SYNE1_uc003qow.3_Missense_Mutation_p.R138P|SYNE1_uc003qox.1_Missense_Mutation_p.R359P|SYNE1_uc003qoz.2_Missense_Mutation_p.R275P|SYNE1_uc003qoy.2_Missense_Mutation_p.R410P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	843					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			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)		TTGTGCCTCACGCTCAAGAAC	0.403										HNSCC(10;0.0054)			G	152779932	C	G	152779932	3	3	135	1	0	0	0	0	1	0	0	0	15442	536	19	5	24438	5	SYNE1	6	152779932	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	109529434	152779932	18335135	28	9120											
GIMAP2	26157	broad.mit.edu	37	7	150390248	150390248	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr7:150390248C>T	uc003who.3	+	2	962	c.874C>T	c.(874-876)Cac>Tac	p.H292Y		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	292						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGCATACTGCACAGCATGTG	0.328													T	150390248	C	T	150390248	3	4	135	1	0	0	0	0	1	0	0	0	6380	710	25	3	880	3	GIMAP2	7	150390248	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		150390248	8748415	29	9121											
XKR5	389610	broad.mit.edu	37	8	6681094	6681094	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr8:6681094T>A	uc022aqv.1	-	3	737	c.586A>T	c.(586-588)Agt>Tgt	p.S196C	XKR5_uc003wqq.3_Missense_Mutation_p.S33C	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	196						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGAACCAGACTCAGCACGCGG	0.542													A	6681094	T	A	6681094	3	1	135	1	0	0	0	0	1	0	0	0	17431	1551	54	5	1491	5	XKR5	8	6681094	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		6681094	139682928	30	9122											
PTPRD	5789	broad.mit.edu	37	9	8389318	8389318	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:8389318C>T	uc003zkk.3	-	36	5043	c.4300G>A	c.(4300-4302)Gaa>Aaa	p.E1434K	PTPRD_uc003zkp.3_Missense_Mutation_p.E1028K|PTPRD_uc003zkq.3_Missense_Mutation_p.E1027K|PTPRD_uc003zkr.3_Missense_Mutation_p.E1018K|PTPRD_uc003zks.3_Missense_Mutation_p.E1027K|PTPRD_uc022bdj.1_Missense_Mutation_p.E1024K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1434	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		CCAAATGTTTCGGGGAGAGAT	0.418										TSP Lung(15;0.13)			T	8389318	C	T	8389318	3	4	135	1	0	0	0	0	1	0	0	0	12799	893	31	2	1478	2	PTPRD	9	8389318	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		8389318	132824113	31	9123											
SLC28A3	64078	broad.mit.edu	37	9	86924627	86924627	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:86924627A>T	uc010mpz.3	-	2	305	c.159T>A	c.(157-159)gaT>gaA	p.D53E	SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.D53E|SLC28A3_uc010mqb.3_5'UTR	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	53					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCTGTTCTTCATCCTGGAAAT	0.428													T	86924627	A	T	86924627	3	4	135	1	0	0	0	0	1	0	0	0	14533	214	8	5	1980	5	SLC28A3	9	86924627	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	78535309	86924627	54288804	32	9124											
KIAA1958	158405	broad.mit.edu	37	9	115336719	115336719	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:115336719G>T	uc011lwx.1	+	1	534	c.359G>T	c.(358-360)tGt>tTt	p.C120F	KIAA1958_uc004bgf.1_Missense_Mutation_p.C120F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	120										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGAGACTCTTGTGACTTCTCC	0.473													T	115336719	G	T	115336719	3	4	135	1	0	0	0	0	1	0	0	0	8264	1377	48	5	361	5	KIAA1958	9	115336719	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	28412092	115336719	25876712	33	9125											
OR5AR1	219493	broad.mit.edu	37	11	56431364	56431364	+	Missense_Mutation	SNP	T	T	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:56431364T>G	uc010rjm.2	+	0	203	c.203T>G	c.(202-204)tTt>tGt	p.F68C	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AACCTCTCCTTTGTTGACCTG	0.463													G	56431364	T	G	56431364	3	3	135	1	0	0	0	0	1	0	0	0	11145	1841	64	5	205	5	OR5AR1	11	56431364	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		56431364	78575152	34	9126											
OSBP	5007	broad.mit.edu	37	11	59376014	59376014	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:59376014G>A	uc001noc.1	-	2	1245	c.765C>T	c.(763-765)atC>atT	p.I255I		NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	255					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGACCTGTTTGATCTTTTCAT	0.478													A	59376014	G	A	59376014	2	1	135	1	0	0	0	0	0	0	0	1	11273	1280	45	3		3	OSBP	11	59376014	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	2944650	59376014	75630502	35	9127											
CTSF	8722	broad.mit.edu	37	11	66333870	66333870	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:66333870G>C	uc001oip.3	-	4	703	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	205					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGCGCCACCGGGCTTCTGAG	0.587													C	66333870	G	C	66333870	3	2	135	1	0	0	0	0	1	0	0	0	4034	1115	39	5	877	5	CTSF	11	66333870	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	6957856	66333870	68672646	36	9128											
WNT11	7481	broad.mit.edu	37	11	75907584	75907584	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:75907584G>A	uc001oxe.3	-	1	385	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	WNT11_uc001oxf.1_Missense_Mutation_p.R88C	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	88					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGTTCCAGCGCATGTCGGCA	0.632													A	75907584	G	A	75907584	3	1	135	1	0	0	0	0	1	0	0	0	17381	1087	38	1	818	1	WNT11	11	75907584	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	9573714	75907584	59098932	37	9129											
SLC2A14	144195	broad.mit.edu	37	12	7970576	7970576	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:7970576C>A	uc010sgh.2	-	8	1261	c.1240G>T	c.(1240-1242)Gcc>Tcc	p.A414S	SLC2A14_uc001qtk.3_Missense_Mutation_p.A399S|SLC2A14_uc001qtl.3_Missense_Mutation_p.A376S|SLC2A14_uc001qtm.3_Missense_Mutation_p.A376S|SLC2A14_uc010sgg.2_Missense_Mutation_p.A290S|SLC2A14_uc001qtn.3_Missense_Mutation_p.A399S|SLC2A14_uc001qto.3_Missense_Mutation_p.A34S	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	399					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCAAAACAGGCCACAAAGACC	0.498													A	7970576	C	A	7970576	3	1	135	1	0	0	0	0	1	0	0	0	14543	739	26	5	375	5	SLC2A14	12	7970576	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		7970576	125881319	38	9130											
WIF1	11197	broad.mit.edu	37	12	65460443	65460443	+	Missense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:65460443G>T	uc001ssk.3	-	5	1083	c.708C>A	c.(706-708)ttC>ttA	p.F236L		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	236	EGF-like 2.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	p.G235E(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TCACTCCATAGAATCCAGGTG	0.373			T	HMGA2	pleomorphic salivary gland adenoma								T	65460443	G	T	65460443	3	4	135	1	0	0	0	0	1	0	0	0	17363	933	33	5	451	5	WIF1	12	65460443	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	57489867	65460443	68391452	39	9131											
TRHDE	283392	broad.mit.edu	37	12	72666917	72666917	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:72666917C>T	uc001sxa.3	+	0	389	c.359C>T	c.(358-360)aCg>aTg	p.T120M	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	120					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCGGGGACCACGTCGGCCCAG	0.741													T	72666917	C	T	72666917	1	4	135	1	0	0	0	0	0	0	0	0	16476	536	19	1		1	TRHDE	12	72666917	Translation_Start_Site	SNP	C	TCGA-14-0871-01A-01W-0424-08	7206474	72666917	61184978	40	9132											
SCARB1	949	broad.mit.edu	37	12	125296422	125296422	+	Silent	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:125296422C>T	uc001ugp.3	-	4	973	c.720G>A	c.(718-720)ctG>ctA	p.L240L	SCARB1_uc001ugm.4_Silent_p.L240L|SCARB1_uc001ugn.4_Silent_p.L240L|SCARB1_uc010tbd.2_Silent_p.L240L|SCARB1_uc001ugo.4_Silent_p.L240L	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	240					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TCACCTTGCTCAGCCCGTTCC	0.652													T	125296422	C	T	125296422	2	4	135	1	0	0	0	0	0	0	0	1	13881	813	29	3		3	SCARB1	12	125296422	Silent	SNP	C	TCGA-14-0871-01A-01W-0424-08	52629505	125296422	8555473	41	9133											
TMEM132B	114795	broad.mit.edu	37	12	126138507	126138507	+	Nonsense_Mutation	SNP	G	G	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:126138507G>T	uc001uhe.1	+	8	2496	c.2488G>T	c.(2488-2490)Gaa>Taa	p.E830*	TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E342*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	830						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCAGTCCAGGAATGGTTCCA	0.488													T	126138507	G	T	126138507	4	4	135	1	0	0	0	0	0	1	0	0	16043	1175	41	5	2522	5	TMEM132B	12	126138507	Nonsense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	842085	126138507	7713388	42	9134											
GPC6	10082	broad.mit.edu	37	13	94680086	94680086	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr13:94680086A>G	uc001vlt.3	+	3	1447	c.815A>G	c.(814-816)aAc>aGc	p.N272S	GPC6_uc010tig.1_Missense_Mutation_p.N272S|5S_rRNA_uc021rli.1_5'Flank	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	272						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TACTGTCTCAACGTCATGAAG	0.527													G	94680086	A	G	94680086	3	3	135	1	0	0	0	0	1	0	0	0	6602	43	2	4	829	4	GPC6	13	94680086	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08		94680086	20489792	43	9135											
FANCM	57697	broad.mit.edu	37	14	45620712	45620712	+	Missense_Mutation	SNP	A	A	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:45620712A>T	uc001wwd.4	+	4	1130	c.1031A>T	c.(1030-1032)aAc>aTc	p.N344I	FANCM_uc001wwc.2_Missense_Mutation_p.N344I|FANCM_uc010anf.3_Missense_Mutation_p.N318I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	344					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			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						TTTAGGAAAAACCCATCTCCG	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	45620712	A	T	45620712	3	4	135	1	0	0	0	0	1	0	0	0	5671	43	2	5	1049	5	FANCM	14	45620712	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08		45620712	61728828	44	9136											
ACTN1	87	broad.mit.edu	37	14	69349623	69349623	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:69349623G>A	uc001xkl.3	-	14	2095	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	ACTN1_uc001xkk.3_Silent_p.I191I|ACTN1_uc010ttb.2_Silent_p.I530I|ACTN1_uc001xkm.3_Silent_p.I595I|ACTN1_uc001xkn.3_Silent_p.I595I|ACTN1_uc010ttc.2_Silent_p.I180I	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	595	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCTGAGGCGTGATGGTTGTGT	0.517													A	69349623	G	A	69349623	2	1	135	1	0	0	0	0	0	0	0	1	204	1280	45	3		3	ACTN1	14	69349623	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	23728911	69349623	37999917	45	9137											
DICER1	23405	broad.mit.edu	37	14	95557629	95557629	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:95557629T>C	uc001ydw.2	-	25	5650	c.5438A>G	c.(5437-5439)gAg>gGg	p.E1813G	DICER1_uc010avh.1_Missense_Mutation_p.E711G|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.E1803G|DICER1_uc001ydx.2_Missense_Mutation_p.E1813G	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1813	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E1813G(2)|p.E1813A(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAAGCGACTCAAAAATATC	0.458			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				C	95557629	T	C	95557629	3	2	135	1	0	0	0	0	1	0	0	0	4521	1551	54	4	342	4	DICER1	14	95557629	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	26208006	95557629	11791911	46	9138											
NOX5	79400	broad.mit.edu	37	15	69347743	69347743	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:69347743T>A	uc002ars.2	+	14	2110	c.2069T>A	c.(2068-2070)cTg>cAg	p.L690Q	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.L644Q|NOX5_uc002arp.2_Missense_Mutation_p.L672Q|NOX5_uc010bid.2_Missense_Mutation_p.L655Q|NOX5_uc010bie.2_Missense_Mutation_p.L490Q|NOX5_uc002arr.2_Missense_Mutation_p.L662Q|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	690					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCCATTGGCCTGCAGATGGCC	0.597													A	69347743	T	A	69347743	3	1	135	1	0	0	0	0	1	0	0	0	10559	1580	55	5	2160	5	NOX5	15	69347743	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		69347743	33183649	47	9139											
UNC45A	55898	broad.mit.edu	37	15	91488293	91488293	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:91488293A>G	uc002bqg.3	+	9	1539	c.1199_splice	c.e9+1	p.K400_splice	UNC45A_uc002bqd.3_Splice_Site_p.K385_splice|UNC45A_uc010uqr.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	400					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AACTACATCAAGTAAGGAAGT	0.478													G	91488293	A	G	91488293	3	3	135	1	0	0	0	0	1	0	0	0	16985	86	3	4	1233	4	UNC45A	15	91488293	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	22140550	91488293	11043099	48	9140											
SNX29	84127	broad.mit.edu	37	16	12145796	12145796	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:12145796G>A	uc002dby.4	+	7					SNX29_uc002dbw.2_Missense_Mutation_p.V281M	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.						cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTCTGGGGACGTGTTTAAAAA	0.483													A	12145796	G	A	12145796	3	1	135	1	0	0	0	0	1	0	0	0	14898	1145	40	1		1	SNX29	16	12145796	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08		12145796	78208957	49	9141											
AKTIP	64400	broad.mit.edu	37	16	53528141	53528141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:53528141G>A	uc002ehm.3	-	7	801	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	AKTIP_uc002ehk.3_Nonsense_Mutation_p.Q207*|AKTIP_uc002ehl.3_Nonsense_Mutation_p.Q207*	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.	207					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TTAAAAAGCTGAATATCTTTT	0.308													A	53528141	G	A	53528141	4	1	135	1	0	0	0	0	0	1	0	0	482	1299	45	3	271	3	AKTIP	16	53528141	Nonsense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	41382345	53528141	36826612	50	9142											
CDH16	1014	broad.mit.edu	37	16	66946227	66946227	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:66946227G>A	uc002eql.3	-	11	1660	c.1466C>T	c.(1465-1467)gCc>gTc	p.A489V	CDH16_uc010cdy.3_Missense_Mutation_p.A489V|CDH16_uc021tjx.1_Missense_Mutation_p.A489V|CDH16_uc002eqm.3_Missense_Mutation_p.A392V	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	489	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTCTCAATGGCAAAATCCAT	0.577													A	66946227	G	A	66946227	3	1	135	1	0	0	0	0	1	0	0	0	3101	1203	42	3	1051	3	CDH16	16	66946227	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	13418086	66946227	23408526	51	9143											
WWP2	11060	broad.mit.edu	37	16	69973830	69973830	+	Missense_Mutation	SNP	T	T	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:69973830T>C	uc002exu.1	+	24	2689	c.2600T>C	c.(2599-2601)tTt>tCt	p.F867S	WWP2_uc002exv.1_Missense_Mutation_p.F867S|WWP2_uc010vlm.1_Missense_Mutation_p.F751S|WWP2_uc010vln.1_Missense_Mutation_p.F485S|WWP2_uc002exw.1_Missense_Mutation_p.F428S	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	867	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCGAGGGCTTTGGACAGGAG	0.612													C	69973830	T	C	69973830	3	2	135	1	0	0	0	0	1	0	0	0	17413	1841	64	4	2694	4	WWP2	16	69973830	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	3027603	69973830	20380923	52	9144											
TP53	7157	broad.mit.edu	37	17	7577035	7577036	+	Frame_Shift_Ins	INS	-	-	G	rs72661120		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:7577035_7577036insG	uc002gim.2	-	7	1096_1097	c.902_903insC	c.(901-903)ccafs	p.P301fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Ins_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.P169fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P301fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P301fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P301fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	301	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; 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.P301fs*44(11)|p.0?(8)|p.P300L(6)|p.G302fs*4(5)|p.P301fs*5(4)|p.P301P(4)|p.P301S(3)|p.P300S(3)|p.?(3)|p.P300A(2)|p.H296_S303delHHELPPGS(2)|p.P301_S303delPGS(2)|p.L265_K305del41(2)|p.P301Q(2)|p.P301L(2)|p.E298_P301delELPP(2)|p.P300P(1)|p.P300fs*44(1)|p.P300R(1)|p.G293fs*1(1)|p.P300fs*6(1)|p.L299fs*2(1)|p.P301fs*45(1)|p.P301fs*?(1)|p.P301T(1)|p.P301A(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)		TAGTGCTCCCTGGGGGCAGCTC	0.559		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)			G	7577036	-	G	7577035	7	5	135	1	0	1	1	0	0	0	0	0	16378	1567	55	0	383	0	TP53	17	7577035	Frame_Shift_Ins	INS	-	TCGA-14-0871-01A-01W-0424-08		7577035	73618175	53	9145											
NF1	4763	broad.mit.edu	37	17	29557336	29557336	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:29557336C>T	uc002hgg.3	+	22	3432	c.3049C>T	c.(3049-3051)Caa>Taa	p.Q1017*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1017*|NF1_uc010csn.2_Nonsense_Mutation_p.Q877*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q50*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1017					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.Q1017*(2)|p.C1016fs*4(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAACTGTGTCAATTAGTTGA	0.338			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29557336	C	T	29557336	4	4	135	1	0	0	0	0	0	1	0	0	10356	827	29	3	3200	3	NF1	17	29557336	Nonsense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	21980301	29557336	51637874	54	9146											
GAS2L2	246176	broad.mit.edu	37	17	34072639	34072639	+	Missense_Mutation	SNP	C	C	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:34072639C>G	uc002hjv.2	-	5	1905	c.1877G>C	c.(1876-1878)aGg>aCg	p.R626T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	626					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACCCCAGACCTTGTGCCCTG	0.582													G	34072639	C	G	34072639	3	3	135	1	0	0	0	0	1	0	0	0	6247	681	24	5	769	5	GAS2L2	17	34072639	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	4515303	34072639	47122571	55	9147											
TUBG2	27175	broad.mit.edu	37	17	40817702	40817702	+	Missense_Mutation	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:40817702A>G	uc010wgr.2	+	7	956	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	TUBG2_uc002iap.3_Missense_Mutation_p.T81A	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	234					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCAGGTGTCCACCATCATGTC	0.637													G	40817702	A	G	40817702	3	3	135	1	0	0	0	0	1	0	0	0	16762	159	6	4	730	4	TUBG2	17	40817702	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	6745063	40817702	40377508	56	9148											
WNK4	65266	broad.mit.edu	37	17	40939868	40939868	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:40939868C>A	uc002ibj.3	+	7	1882	c.1814C>A	c.(1813-1815)cCt>cAt	p.P605H	WNK4_uc010wgx.2_Missense_Mutation_p.P269H|WNK4_uc002ibk.1_Missense_Mutation_p.P377H|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCAGCCCCCTGGGGGGGTG	0.632													A	40939868	C	A	40939868	3	1	135	1	0	0	0	0	1	0	0	0	17377	681	24	5	1844	5	WNK4	17	40939868	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	122166	40939868	40255342	57	9149											
C18orf34	374864	broad.mit.edu	37	18	30873224	30873224	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr18:30873224T>A	uc010xbr.1	-	10	1217	c.1075A>T	c.(1075-1077)Ata>Tta	p.I359L	C18orf34_uc002kxn.2_Missense_Mutation_p.I359L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I359L|C18orf34_uc002kxp.3_Missense_Mutation_p.I359L	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	359										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TTAACATTTATCACTGATGAA	0.279													A	30873224	T	A	30873224	3	1	135	1	0	0	0	0	1	0	0	0	1902	1435	50	5	1576	5	C18orf34	18	30873224	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		30873224	47204024	58	9150											
WDR88	126248	broad.mit.edu	37	19	33651345	33651345	+	Missense_Mutation	SNP	T	T	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:33651345T>A	uc002nui.3	+	7	1101	c.1023T>A	c.(1021-1023)ttT>ttA	p.F341L		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	341										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CTGGAGGGTTTGATAGGACTG	0.493													A	33651345	T	A	33651345	3	1	135	1	0	0	0	0	1	0	0	0	17332	1809	63	5	1053	5	WDR88	19	33651345	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		33651345	25477638	59	9151											
KCTD15	79047	broad.mit.edu	37	19	34292103	34292103	+	Missense_Mutation	SNP	C	C	T			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:34292103C>T	uc002nuy.4	+	3	366	c.98C>T	c.(97-99)aCc>aTc	p.T33I	KCTD15_uc002nuv.3_Missense_Mutation_p.T33I|KCTD15_uc002nuw.4_Missense_Mutation_p.T33I|KCTD15_uc010xrt.2_Missense_Mutation_p.T33I|KCTD15_uc002nux.4_Missense_Mutation_p.T33I	NM_001129994	NP_001123467	Q96SI1	KCD15_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 15 (KCTD15), transcript variant 2, mRNA.	33						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CTGTCTCTCACCCGGTCGCCT	0.582													T	34292103	C	T	34292103	3	4	135	1	0	0	0	0	1	0	0	0	8102	507	18	3	104	3	KCTD15	19	34292103	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	640758	34292103	24836880	60	9152											
ZNF470	388566	broad.mit.edu	37	19	57088457	57088457	+	Silent	SNP	A	A	G			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:57088457A>G	uc002qnl.4	+	5	1336	c.660A>G	c.(658-660)caA>caG	p.Q220Q	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AACACAAGCAAGACCGTGGAG	0.308													G	57088457	A	G	57088457	2	3	135	1	0	0	0	0	0	0	0	1	17926	69	3	4		4	ZNF470	19	57088457	Silent	SNP	A	TCGA-14-0871-01A-01W-0424-08	22796354	57088457	2040526	61	9153											
ZNF324	25799	broad.mit.edu	37	19	58983498	58983498	+	Missense_Mutation	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:58983498G>A	uc002qsw.2	+	3	1784	c.1639G>A	c.(1639-1641)Gtc>Atc	p.V547I		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCAGCCGCCGTCTCGCAGCC	0.652													A	58983498	G	A	58983498	3	1	135	1	0	0	0	0	1	0	0	0	17841	1145	40	1	1649	1	ZNF324	19	58983498	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	1895041	58983498	145485	62	9154											
KRTAP10-9	386676	broad.mit.edu	37	21	46047750	46047750	+	Missense_Mutation	SNP	C	C	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr21:46047750C>A	uc002zfp.4	+	0	711	c.662C>A	c.(661-663)aCc>aAc	p.T221N	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	221	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTTGCTGCACCACCTCCTGC	0.657													A	46047750	C	A	46047750	3	1	135	1	0	0	0	0	1	0	0	0	8516	507	18	5	664	5	KRTAP10-9	21	46047750	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		46047750	2082145	63	9155											
NUP62CL	54830	broad.mit.edu	37	X	106397360	106397360	+	Missense_Mutation	SNP	G	G	C			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:106397360G>C	uc004ena.3	-	4	570	c.311C>G	c.(310-312)gCt>gGt	p.A104G	NUP62CL_uc004enb.3_Intron	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	104					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						ATGGTCCCAAGCATTGACCTG	0.388													C	106397360	G	C	106397360	3	2	135	1	0	0	0	0	1	0	0	0	10769	971	34	5	259	5	NUP62CL	23	106397360	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08		106397360	48873200	64	9156											
UBE2NL	389898	broad.mit.edu	37	X	142967486	142967487	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:142967486_142967487AG>TA	uc004fca.3	+	0	314_315	c.284_285AG>TA	c.(283-285)aag>aTA	p.K95I		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	95							acid-amino acid ligase activity	p.K95*(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAAAGATAAGTGGTCCCCAG	0.421													TA	142967487	AG	TA	142967486	3	4	135	1	0	0	0	0	1	0	0	0	16864	72	3	5	286	5	UBE2NL	23	142967486	Missense_Mutation	DNP	AG	TCGA-14-0871-01A-01W-0424-08	36570126	142967486	12303074	65	9157											
GABRQ	55879	broad.mit.edu	37	X	151808911	151808911	+	Silent	SNP	G	G	A			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:151808911G>A	uc004ffp.1	+	1	242	c.222G>A	c.(220-222)ctG>ctA	p.L74L		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	74						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCCGCCTGAGACCGAATT	0.463													A	151808911	G	A	151808911	2	1	135	1	0	0	0	0	0	0	0	1	6175	1277	45	3		3	GABRQ	23	151808911	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	8841425	151808911	3461649	66	9158											
MPL	4352	broad.mit.edu	37	1	43804269	43804269	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:43804269G>A	uc001ciw.3	+	2	314	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	MPL_uc001civ.3_Missense_Mutation_p.R90Q|MPL_uc009vwr.3_Missense_Mutation_p.R83Q	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	90					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGGAACCCGATACGTGTGC	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						A	43804269	G	A	43804269	3	1	136	1	0	0	0	0	1	0	0	0	9730	1058	37	2	279	2	MPL	1	43804269	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08		43804269	205446352	1	9159											
SPTA1	6708	broad.mit.edu	37	1	158617395	158617395	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:158617395C>T	uc001fst.1	-	26	4029	c.3830G>A	c.(3829-3831)cGt>cAt	p.R1277H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1277					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277L(4)|p.R1277H(2)|p.R1277C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557													T	158617395	C	T	158617395	3	4	136	1	0	0	0	0	1	0	0	0	15115	536	19	1	3533	1	SPTA1	1	158617395	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	114813126	158617395	90633226	2	9160											
CEP350	9857	broad.mit.edu	37	1	179989186	179989186	+	Silent	SNP	C	C	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:179989186C>G	uc001gnt.3	+	11	2660	c.2277C>G	c.(2275-2277)ctC>ctG	p.L759L	CEP350_uc009wxl.2_Silent_p.L758L|CEP350_uc001gnu.3_Silent_p.L593L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	759						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGTTTACTCTCCCATCTCT	0.403													G	179989186	C	G	179989186	2	3	136	1	0	0	0	0	0	0	0	1	3254	900	32	5		5	CEP350	1	179989186	Silent	SNP	C	TCGA-14-1043-01B-11D-1845-08	21371791	179989186	69261435	3	9161											
CAMKV	79012	broad.mit.edu	37	3	49896857	49896857	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:49896857G>T	uc003cxt.1	-	10	1593	c.1400C>A	c.(1399-1401)cCg>cAg	p.P467Q	TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.P392Q|CAMKV_uc003cxv.1_Missense_Mutation_p.P439Q|CAMKV_uc003cxw.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxx.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxu.2_Missense_Mutation_p.P436Q|CAMKV_uc011bcz.1_Missense_Mutation_p.P399Q|CAMKV_uc011bda.1_Missense_Mutation_p.P393Q	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	467	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTGCTGTCCGGCTGGGCCAT	0.652													T	49896857	G	T	49896857	3	4	136	1	0	0	0	0	1	0	0	0	2608	1116	39	5	109	5	CAMKV	3	49896857	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08		49896857	148125573	4	9162											
C3orf26	84319	broad.mit.edu	37	3	99891168	99891168	+	Silent	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:99891168G>A	uc003dtl.3	+	7	734	c.588G>A	c.(586-588)gcG>gcA	p.A196A	C3orf26_uc021xbt.1_Silent_p.A178A	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA.	196							ATP binding|ATP-dependent helicase activity|nucleic acid binding			large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2)	14						AGGTCCAGGCGCAGGTAAAGT	0.413													A	99891168	G	A	99891168	2	1	136	1	0	0	0	0	0	0	0	1	2218	1074	38	1		1	C3orf26	3	99891168	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08	49994311	99891168	98131262	5	9163											
FXR1	8087	broad.mit.edu	37	3	180651171	180651172	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:180651171_180651172delAT	uc003fkq.3	+	1	341_342	c.101_102delAT	c.(100-102)aatfs	p.N34fs	FXR1_uc003fkp.3_5'UTR|FXR1_uc003fkr.3_Frame_Shift_Del_p.N34fs|FXR1_uc011bqj.2_Intron|FXR1_uc003fks.3_5'UTR|FXR1_uc011bqk.2_Intron|FXR1_uc011bql.2_Frame_Shift_Del_p.N21fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	34					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GTTTTTGAAAATAAGTAAGTTA	0.332													-	180651172	AT	-	180651171	7	5	136	1	0	1	0	1	0	0	0	0	6115	101	4	0	107	0	FXR1	3	180651171	Frame_Shift_Del	DEL	AT	TCGA-14-1043-01B-11D-1845-08	80760003	180651171	17371259	6	9164											
RICTOR	253260	broad.mit.edu	37	5	38950386	38950386	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:38950386A>C	uc003jlo.2	-	30	3586	c.3564T>G	c.(3562-3564)aaT>aaG	p.N1188K	RICTOR_uc003jlp.2_Missense_Mutation_p.N1188K|RICTOR_uc010ivf.2_Missense_Mutation_p.N903K	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1188					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTACCAAAATTCTTGGTGA	0.358													C	38950386	A	C	38950386	3	2	136	1	0	0	0	0	1	0	0	0	13358	98	4	5	1594	5	RICTOR	5	38950386	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08		38950386	141964874	7	9165											
SV2C	22987	broad.mit.edu	37	5	75427791	75427791	+	Silent	SNP	C	C	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:75427791C>T	uc003kei.1	+	1	350	c.216C>T	c.(214-216)gaC>gaT	p.D72D		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	72					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D72D(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCAACGATGACGAAGGCTCAA	0.498													T	75427791	C	T	75427791	2	4	136	1	0	0	0	0	0	0	0	1	15416	535	19	1		1	SV2C	5	75427791	Silent	SNP	C	TCGA-14-1043-01B-11D-1845-08	36477405	75427791	105487469	8	9166											
ARRDC3	57561	broad.mit.edu	37	5	90671379	90671379	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:90671379A>C	uc003kjz.2	-	3	802	c.562T>G	c.(562-564)Tca>Gca	p.S188A		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	188					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		ATTGGGCCTGAGGTACAGAAC	0.398													C	90671379	A	C	90671379	3	2	136	1	0	0	0	0	1	0	0	0	984	304	11	5	702	5	ARRDC3	5	90671379	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08	15243588	90671379	90243881	9	9167											
CDC23	8697	broad.mit.edu	37	5	137524677	137524677	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:137524677A>G	uc003lcl.3	-	15	1815	c.1784T>C	c.(1783-1785)gTc>gCc	p.V595A		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	595					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|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|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTATGGCGTGACAGAAGACAA	0.493													G	137524677	A	G	137524677	3	3	136	1	0	0	0	0	1	0	0	0	3061	275	10	4	13	4	CDC23	5	137524677	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08	46853298	137524677	43390583	10	9168											
JAKMIP2	9832	broad.mit.edu	37	5	147012259	147012259	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:147012259C>T	uc010jgo.1	-	11	1908	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	JAKMIP2_uc003loq.1_Missense_Mutation_p.R587Q|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R545Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R566Q|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	587						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAGGTTTCGAAACTCCAG	0.388													T	147012259	C	T	147012259	3	4	136	1	0	0	0	0	1	0	0	0	7941	884	31	2	708	2	JAKMIP2	5	147012259	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	9487582	147012259	33903001	11	9169											
COL12A1	1303	broad.mit.edu	37	6	75866132	75866132	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr6:75866132G>A	uc021zbv.1	-	13	3126	c.3091C>T	c.(3091-3093)Cgc>Tgc	p.R1031C	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.R1031C|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1031	Fibronectin type-III 7.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCATGAGGGCGATAGACAACA	0.473													A	75866132	G	A	75866132	3	1	136	1	0	0	0	0	1	0	0	0	3669	1058	37	2	6308	2	COL12A1	6	75866132	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08		75866132	95248935	12	9170											
CASP8AP2	9994	broad.mit.edu	37	6	90578080	90578080	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr6:90578080G>A	uc003pnr.3	+	7	5267	c.5071G>A	c.(5071-5073)Gtc>Atc	p.V1691I	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.V1691I|CASP8AP2_uc011dzz.2_Missense_Mutation_p.V1691I	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1691					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAAAGATCCAGTCACTGAAAC	0.388													A	90578080	G	A	90578080	3	1	136	1	0	0	0	0	1	0	0	0	2678	1029	36	3	5097	3	CASP8AP2	6	90578080	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08	14711948	90578080	80536987	13	9171											
PEX1	5189	broad.mit.edu	37	7	92147239	92147239	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr7:92147239T>C	uc003uly.3	-	4	686	c.590A>G	c.(589-591)aAa>aGa	p.K197R	PEX1_uc011khr.2_5'UTR|PEX1_uc010ley.3_Missense_Mutation_p.K197R|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	197					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATGAAGTTTTTTATATTCAGC	0.388													C	92147239	T	C	92147239	3	2	136	1	0	0	0	0	1	0	0	0	11735	1841	64	4	3341	4	PEX1	7	92147239	Missense_Mutation	SNP	T	TCGA-14-1043-01B-11D-1845-08		92147239	66991424	14	9172											
KIF12	113220	broad.mit.edu	37	9	116858751	116858751	+	Silent	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr9:116858751G>A	uc004bif.3	-	4	478	c.240C>T	c.(238-240)agC>agT	p.S80S	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	213	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCTTCGACGGCTGAGAcctg	0.547													A	116858751	G	A	116858751	2	1	136	1	0	0	0	0	0	0	0	1	8273	1194	42	3		3	KIF12	9	116858751	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08		116858751	24354680	15	9173											
OR5F1	338674	broad.mit.edu	37	11	55761884	55761884	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr11:55761884T>G	uc010riv.2	-	0	218	c.218A>C	c.(217-219)aAc>aCc	p.N73T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					GGTAGTTGAGTTACAAACGTC	0.443													G	55761884	T	G	55761884	3	3	136	1	0	0	0	0	1	0	0	0	11158	1725	60	5	729	5	OR5F1	11	55761884	Missense_Mutation	SNP	T	TCGA-14-1043-01B-11D-1845-08		55761884	79244632	16	9174											
RFX4	5992	broad.mit.edu	37	12	107048021	107048021	+	Nonsense_Mutation	SNP	T	T	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr12:107048021T>G	uc001tlt.3	+	3	374	c.234T>G	c.(232-234)taT>taG	p.Y78*	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Nonsense_Mutation_p.Y69*|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Nonsense_Mutation_p.Y78*	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	69					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGGAGAACTATGAGATTGCAG	0.488													G	107048021	T	G	107048021	4	3	136	1	0	0	0	0	0	1	0	0	13265	1471	51	5	295	5	RFX4	12	107048021	Nonsense_Mutation	SNP	T	TCGA-14-1043-01B-11D-1845-08		107048021	26803874	17	9175											
NEIL1	79661	broad.mit.edu	37	15	75641495	75641495	+	Silent	SNP	C	C	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr15:75641495C>T	uc002bae.3	+	1	660	c.507C>T	c.(505-507)ggC>ggT	p.G169G	NEIL1_uc002bad.3_Silent_p.G83G	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	83					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCATGTCCGGCTCTTTTCAGC	0.687								Base excision repair (BER), DNA glycosylases					T	75641495	C	T	75641495	2	4	136	1	0	0	0	0	0	0	0	1	10318	784	28	3		3	NEIL1	15	75641495	Silent	SNP	C	TCGA-14-1043-01B-11D-1845-08		75641495	26889897	18	9176											
CAMKK1	84254	broad.mit.edu	37	17	3779538	3779538	+	Silent	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:3779538G>A	uc002fwv.3	-	10	1237	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	CAMKK1_uc002fwt.3_Silent_p.S325S|CAMKK1_uc002fwu.3_Silent_p.S325S	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	325	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AGCTCTGGCCGGAATCAGAAA	0.622													A	3779538	G	A	3779538	2	1	136	1	0	0	0	0	0	0	0	1	2606	1103	39	2		2	CAMKK1	17	3779538	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08		3779538	77415672	19	9177											
NF1	4763	broad.mit.edu	37	17	29560133	29560133	+	Frame_Shift_Del	DEL	C	C	-			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:29560133delC	uc002hgg.3	+	26	3993	c.3610delC	c.(3610-3612)cggfs	p.R1204fs	NF1_uc002hgh.3_Frame_Shift_Del_p.R1204fs|NF1_uc010csn.2_Frame_Shift_Del_p.R1064fs|NF1_uc002hgi.1_Frame_Shift_Del_p.R237fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1204			R -> G (in NF1).|R -> W (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.R1204W(2)|p.G1190fs*1(1)|p.D1203H(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTGGCTGATCGGTTTGAGAG	0.453			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29560133	C	-	29560133	7	5	136	1	0	1	0	1	0	0	0	0	10356	875	31	0	3777	0	NF1	17	29560133	Frame_Shift_Del	DEL	C	TCGA-14-1043-01B-11D-1845-08	25780595	29560133	51635077	20	9178											
NF1	4763	broad.mit.edu	37	17	29661945	29661945	+	Nonsense_Mutation	SNP	C	C	T	rs137854552		TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:29661945C>T	uc002hgg.3	+	39	6285	c.5902C>T	c.(5902-5904)Cga>Tga	p.R1968*	NF1_uc002hgh.3_Nonsense_Mutation_p.R1947*|NF1_uc010cso.3_Nonsense_Mutation_p.R156*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1968					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R1968*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGATGCCAAACGACAAAGAGT	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29661945	C	T	29661945	4	4	136	1	0	0	0	0	0	1	0	0	10356	528	19	1	6121	1	NF1	17	29661945	Nonsense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	101812	29661945	51533265	21	9179											
HOXB8	3218	broad.mit.edu	37	17	46692020	46692020	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:46692020C>G	uc002inw.3	-	0	282	c.47G>C	c.(46-48)gGg>gCg	p.G16A		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CAGGGACTCCCCGGTTTTGTA	0.587													G	46692020	C	G	46692020	3	3	136	1	0	0	0	0	1	0	0	0	7307	623	22	5	692	5	HOXB8	17	46692020	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	17030075	46692020	34503190	22	9180											
MUC16	94025	broad.mit.edu	37	19	9062384	9062384	+	Silent	SNP	G	G	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr19:9062384G>T	uc002mkp.3	-	2	25266	c.25062C>A	c.(25060-25062)acC>acA	p.T8354T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8356	Ser-rich.|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						TCCTCACGTTGGTCACTGCTG	0.488													T	9062384	G	T	9062384	2	4	136	1	0	0	0	0	0	0	0	1	9973	1335	47	5		5	MUC16	19	9062384	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08		9062384	50066599	23	9181											
ZNF653	115950	broad.mit.edu	37	19	11594572	11594572	+	Silent	SNP	G	G	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr19:11594572G>A	uc002mrz.2	-	8	1910	c.1773C>T	c.(1771-1773)tgC>tgT	p.C591C	ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGCGCTTCCCGCAGCGATCGC	0.612													A	11594572	G	A	11594572	2	1	136	1	0	0	0	0	0	0	0	1	18063	1079	38	1		1	ZNF653	19	11594572	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08	2532188	11594572	47534411	24	9182											
FAM83D	81610	broad.mit.edu	37	20	37580810	37580811	+	Frame_Shift_Ins	INS	-	-	T			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr20:37580810_37580811insT	uc002xjg.3	+	3	1536_1537	c.1495_1496insT	c.(1495-1497)gtafs	p.V499fs		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	469					cell division|mitosis	cytoplasm|spindle pole		p.V499I(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AAAAATGTCTGTATCGAGATCT	0.485													T	37580811	-	T	37580810	7	5	136	1	0	1	1	0	0	0	0	0	5636	1377	48	0	1509	0	FAM83D	20	37580810	Frame_Shift_Ins	INS	-	TCGA-14-1043-01B-11D-1845-08		37580810	25444710	25	9183											
PCK1	5105	broad.mit.edu	37	20	56140691	56140691	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr20:56140691A>C	uc002xyn.4	+	9	1863	c.1700A>C	c.(1699-1701)aAa>aCa	p.K567T	PCK1_uc010zzm.2_Missense_Mutation_p.K250T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	567					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			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)			CTGAACCTGAAAGGCCTGGGG	0.532													C	56140691	A	C	56140691	3	2	136	1	0	0	0	0	1	0	0	0	11581	14	1	5	1734	5	PCK1	20	56140691	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08	18559881	56140691	6884829	26	9184											
HUNK	30811	broad.mit.edu	37	21	33331245	33331245	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr21:33331245C>A	uc002yph.3	+	4	1197	c.837C>A	c.(835-837)gaC>gaA	p.D279E		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	279	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGATGGTAGACAAAGAAATGA	0.537													A	33331245	C	A	33331245	3	1	136	1	0	0	0	0	1	0	0	0	7458	477	17	5	855	5	HUNK	21	33331245	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08		33331245	14798650	27	9185											
ACOT11	26027	broad.mit.edu	37	1	55096492	55096492	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:55096492G>A	uc001cxm.2	+	15	1891	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H		NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	572	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	p.R572H(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						tcaaagggtcgcaggagcgac	0.547													A	55096492	G	A	55096492	3	1	137	1	0	0	0	0	1	0	0	0	149	1087	38	1	1937	1	ACOT11	1	55096492	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		55096492	194154129	1	9186											
PGM1	5236	broad.mit.edu	37	1	64100595	64100595	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:64100595C>T	uc010ooz.2	+	4	1077	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	PGM1_uc001dbh.3_Missense_Mutation_p.H260Y|PGM1_uc010ooy.2_Missense_Mutation_p.H63Y	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	260					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTTGGAGGCCACCACCCTGA	0.547													T	64100595	C	T	64100595	3	4	137	1	0	0	0	0	1	0	0	0	11797	594	21	3	1100	3	PGM1	1	64100595	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	9004103	64100595	185150026	2	9187											
TCHH	7062	broad.mit.edu	37	1	152084715	152084735	+	In_Frame_Del	DEL	CTCCTGCTGCTCGCGCCTCTC	CTCCTGCTGCTCGCGCCTCTC	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	uc009wne.1	-	2	1230_1250	c.958_978delGAGAGGCGCGAGCAGCAGGAG	c.(958-978)gagaggcgcgagcagcaggagdel	p.ERREQQE320del	TCHH_uc001ezp.2_In_Frame_Del_p.ERREQQE320del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	320	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctctcctgctgctcgcgcctctcctcctgctgc	0.692													-	152084735	CTCCTGCTGCTCGCGCCTCTC	-	152084715	7	5	137	1	0	1	0	1	0	0	0	0	15697	912	32	0	4857	0	TCHH	1	152084715	In_Frame_Del	DEL	CTCCTGCTGCTCGCGCCTCTC	TCGA-14-1395-01B-11D-1845-08	87984120	152084715	97165906	3	9188											
HMCN1	83872	broad.mit.edu	37	1	185956668	185956668	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:185956668T>C	uc001grq.1	+	19	3269	c.3040T>C	c.(3040-3042)Tgg>Cgg	p.W1014R	HMCN1_uc001grr.1_Missense_Mutation_p.W355R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1014	Ig-like C2-type 7.				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						GTCTGTCATCTGGTCCAAGGT	0.453													C	185956668	T	C	185956668	3	2	137	1	0	0	0	0	1	0	0	0	7220	1580	55	4	3118	4	HMCN1	1	185956668	Missense_Mutation	SNP	T	TCGA-14-1395-01B-11D-1845-08	33871953	185956668	63293953	4	9189											
CFHR5	81494	broad.mit.edu	37	1	196964877	196964877	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:196964877A>T	uc001gts.4	+	4	766	c.638A>T	c.(637-639)cAa>cTa	p.Q213L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	213	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCACCTCCTCAACTCTCCAAT	0.333													T	196964877	A	T	196964877	3	4	137	1	0	0	0	0	1	0	0	0	3288	130	5	5	656	5	CFHR5	1	196964877	Missense_Mutation	SNP	A	TCGA-14-1395-01B-11D-1845-08	11008209	196964877	52285744	5	9190											
OBSCN	84033	broad.mit.edu	37	1	228400217	228400217	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:228400217C>T	uc009xez.1	+	1	777	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	OBSCN_uc001hsn.3_Missense_Mutation_p.R245C|AK056556_uc001hsm.1_Intron	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	245	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R245C(3)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCGGCACGCGCACCTGCAC	0.746													T	228400217	C	T	228400217	3	4	137	1	0	0	0	0	1	0	0	0	10812	768	27	1	735	1	OBSCN	1	228400217	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	31435340	228400217	20850404	6	9191											
KIAA1804	84451	broad.mit.edu	37	1	233511808	233511808	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:233511808G>C	uc001hvt.4	+	6	2083	c.1822G>C	c.(1822-1824)Gaa>Caa	p.E608Q	KIAA1804_uc001hvu.4_Missense_Mutation_p.E54Q	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	608					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AGATTGCAAAGAAAGGTACGT	0.348													C	233511808	G	C	233511808	3	2	137	1	0	0	0	0	1	0	0	0	8259	943	33	5	1848	5	KIAA1804	1	233511808	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	5111591	233511808	15738813	7	9192											
TARBP1	6894	broad.mit.edu	37	1	234541656	234541656	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:234541656C>T	uc001hwd.3	-	23	3982	c.3982G>A	c.(3982-3984)Gga>Aga	p.G1328R		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1328					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TACCCTGCTCCGTGCATGCTT	0.532													T	234541656	C	T	234541656	3	4	137	1	0	0	0	0	1	0	0	0	15552	661	23	2	911	2	TARBP1	1	234541656	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	1029848	234541656	14708965	8	9193											
ABCB11	8647	broad.mit.edu	37	2	169783711	169783711	+	Silent	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:169783711A>T	uc002ueo.1	-	25	3699	c.3573T>A	c.(3571-3573)gcT>gcA	p.A1191A	ABCB11_uc010zda.1_Silent_p.A609A|ABCB11_uc010zdb.1_Silent_p.A667A	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1191	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCTGTTTTGCAGCTGCTATGA	0.453													T	169783711	A	T	169783711	2	4	137	1	0	0	0	0	0	0	0	1	42	175	7	5		5	ABCB11	2	169783711	Silent	SNP	A	TCGA-14-1395-01B-11D-1845-08		169783711	73415662	9	9194											
MFSD6	54842	broad.mit.edu	37	2	191301881	191301881	+	Missense_Mutation	SNP	G	G	T	rs147647208		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:191301881G>T	uc002urz.2	+	2	1450	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	376					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATCGTCTTCGGCGTTCTCAT	0.517													T	191301881	G	T	191301881	3	4	137	1	0	0	0	0	1	0	0	0	9535	1116	39	5	1128	5	MFSD6	2	191301881	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	21518170	191301881	51897492	10	9195											
DNPEP	23549	broad.mit.edu	37	2	220246112	220246112	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:220246112G>A	uc002vle.2	-	12	1330	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	DNPEP_uc002vli.2_Missense_Mutation_p.A342V|DNPEP_uc010zlg.2_Missense_Mutation_p.A403V	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	385					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CTCTGACACCGCGTTTGAAGC	0.597													A	220246112	G	A	220246112	3	1	137	1	0	0	0	0	1	0	0	0	4679	1087	38	1	285	1	DNPEP	2	220246112	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	28944231	220246112	22953261	11	9196											
AGXT	189	broad.mit.edu	37	2	241808652	241808652	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:241808652C>T	uc002waa.4	+	1	352	c.231C>T	c.(229-231)gtC>gtT	p.V77V	AGXT_uc010zoi.1_Silent_p.V77V	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	77					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.L76M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCACACTGGTCATCTCTGGCT	0.607													T	241808652	C	T	241808652	2	4	137	1	0	0	0	0	0	0	0	1	404	813	29	3		3	AGXT	2	241808652	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08	21562540	241808652	1390721	12	9197											
CNTN6	27255	broad.mit.edu	37	3	1415706	1415706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:1415706delG	uc003boz.3	+	15	2311	c.2044delG	c.(2044-2046)gggfs	p.G682fs	CNTN6_uc011asj.2_Frame_Shift_Del_p.G610fs|CNTN6_uc003bpa.3_Frame_Shift_Del_p.G682fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	682	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAACAGCATTGGGATTGGAGA	0.393													-	1415706	G	-	1415706	7	5	137	1	0	1	0	1	0	0	0	0	3645	1348	47	0	2102	0	CNTN6	3	1415706	Frame_Shift_Del	DEL	G	TCGA-14-1395-01B-11D-1845-08		1415706	196606724	13	9198											
LRRC31	79782	broad.mit.edu	37	3	169557943	169557943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:169557943G>A	uc003fgc.1	-	8	1551	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	LRRC31_uc010hwp.1_Nonsense_Mutation_p.R440*	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	496										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCACAATCTCGAAAATTTGAT	0.453													A	169557943	G	A	169557943	4	1	137	1	0	0	0	0	0	1	0	0	8986	1066	37	2	176	2	LRRC31	3	169557943	Nonsense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	168142237	169557943	28464487	14	9199											
CPN2	1370	broad.mit.edu	37	3	194061799	194061799	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:194061799G>A	uc003fts.3	-	1	1723	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	CPN2_uc021xix.1_Missense_Mutation_p.P545S	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	545					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCTACTAGGGCCCTGCTGCC	0.652													A	194061799	G	A	194061799	3	1	137	1	0	0	0	0	1	0	0	0	3810	1203	42	3	8	3	CPN2	3	194061799	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	24503856	194061799	3960631	15	9200											
ZNF732	654254	broad.mit.edu	37	4	265913	265913	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:265913T>G	uc021xka.1	-	3	733	c.733A>C	c.(733-735)Act>Cct	p.T245P	ZNF732_uc011buu.1_Missense_Mutation_p.T213P	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTCTCTCCAGTATGAACTTTA	0.363													G	265913	T	G	265913	3	3	137	1	0	0	0	0	1	0	0	0	18120	1638	57	5	1028	5	ZNF732	4	265913	Missense_Mutation	SNP	T	TCGA-14-1395-01B-11D-1845-08		265913	190888363	16	9201											
ZNF732	654254	broad.mit.edu	37	4	265995	265995	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:265995A>T	uc021xka.1	-	3	651	c.651T>A	c.(649-651)caT>caA	p.H217Q	ZNF732_uc011buu.1_Missense_Mutation_p.H185Q	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TCTCTCCAGTATGAATTATCT	0.348													T	265995	A	T	265995	3	4	137	1	0	0	0	0	1	0	0	0	18120	446	16	5	1110	5	ZNF732	4	265995	Missense_Mutation	SNP	A	TCGA-14-1395-01B-11D-1845-08	82	265995	190888281	17	9202											
UGT2B4	7363	broad.mit.edu	37	4	70351001	70351001	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:70351001G>A	uc003hek.4	-	4	1282	c.1235C>T	c.(1234-1236)gCt>gTt	p.A412V	UGT2B4_uc011cap.2_Missense_Mutation_p.A276V|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	412					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAACTAACAGCTGCTCCCTT	0.423													A	70351001	G	A	70351001	3	1	137	1	0	0	0	0	1	0	0	0	16958	971	34	3	359	3	UGT2B4	4	70351001	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	70085006	70351001	120803275	18	9203											
SULT1B1	27284	broad.mit.edu	37	4	70620981	70620981	+	Splice_Site	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:70620981T>C	uc003hen.3	-	2	255	c.-43_splice	c.e2-1			NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ACAGTTGTTCTGGAGAAATAT	0.328													C	70620981	T	C	70620981	5	2	137	1	0	0	0	0	0	0	1	0	15373	1594	55	4		4	SULT1B1	4	70620981	Splice_Site	SNP	T	TCGA-14-1395-01B-11D-1845-08	269980	70620981	120533295	19	9204											
C4orf32	132720	broad.mit.edu	37	4	113107978	113107978	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:113107978C>T	uc003iah.2	+	1	467	c.283C>T	c.(283-285)Cga>Tga	p.R95*	C4orf32_uc003iai.3_Non-coding_Transcript	NM_152400	NP_689613	Q8N8J7	CD032_HUMAN	Homo sapiens chromosome 4 open reading frame 32 (C4orf32), mRNA.	95						integral to membrane							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TTTTGGAGAACGAATAGTGGA	0.413													T	113107978	C	T	113107978	4	4	137	1	0	0	0	0	0	1	0	0	2262	528	19	1	289	1	C4orf32	4	113107978	Nonsense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	42486997	113107978	78046298	20	9205											
CEP72	55722	broad.mit.edu	37	5	637858	637858	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:637858C>T	uc003jbf.3	+	6	1203	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	377					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AAAGCAGGAACGGGAGGACCT	0.622													T	637858	C	T	637858	2	4	137	1	0	0	0	0	0	0	0	1	3260	535	19	1		1	CEP72	5	637858	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08		637858	180277402	21	9206											
CDH18	1016	broad.mit.edu	37	5	19721516	19721516	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:19721516C>T	uc003jgd.3	-	4	1117	c.583G>A	c.(583-585)Gct>Act	p.A195T	CDH18_uc011cnm.2_Missense_Mutation_p.A195T|CDH18_uc003jgc.3_Missense_Mutation_p.A195T|CDH18_uc021xwu.1_Missense_Mutation_p.A195T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	195	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A195T(2)|p.S194R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACCCGAGCGCTGTTTCCA	0.463													T	19721516	C	T	19721516	3	4	137	1	0	0	0	0	1	0	0	0	3103	768	27	1	1825	1	CDH18	5	19721516	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	19083658	19721516	161193744	22	9207											
PCDHB16	57717	broad.mit.edu	37	5	140564331	140564331	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:140564331C>T	uc003liv.3	+	0	3352	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	733					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCCCTTTCCAGGGCGTCT	0.627													T	140564331	C	T	140564331	3	4	137	1	0	0	0	0	1	0	0	0	11541	855	30	3	2199	3	PCDHB16	5	140564331	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	120842815	140564331	40350929	23	9208											
HIST1H1C	3006	broad.mit.edu	37	6	26056384	26056385	+	Frame_Shift_Ins	INS	-	-	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:26056384_26056385insC	uc003nfw.3	-	0	315_316	c.272_273insG	c.(271-273)ggcfs	p.G91fs		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	91	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCACCAGAGTGCCCTTGCTCAC	0.545													C	26056385	-	C	26056384	7	5	137	1	0	1	1	0	0	0	0	0	7124	1306	46	0	372	0	HIST1H1C	6	26056384	Frame_Shift_Ins	INS	-	TCGA-14-1395-01B-11D-1845-08		26056384	145058683	24	9209											
GABRR2	2570	broad.mit.edu	37	6	89975454	89975454	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:89975454G>A	uc003pnb.2	-	6	850	c.842C>T	c.(841-843)aCg>aTg	p.T281M	GABRR2_uc011dzx.1_Missense_Mutation_p.T157M	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	281					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			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GCGACGCAACGTGAAGTTAAT	0.517													A	89975454	G	A	89975454	3	1	137	1	0	0	0	0	1	0	0	0	6177	1145	40	1	642	1	GABRR2	6	89975454	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	63919070	89975454	81139613	25	9210											
ZBTB2	57621	broad.mit.edu	37	6	151687420	151687420	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:151687420G>A	uc003qoh.3	-	2	916	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTGAAGCGCCGTCCACACAGG	0.557													A	151687420	G	A	151687420	3	1	137	1	0	0	0	0	1	0	0	0	17525	1144	40	1	767	1	ZBTB2	6	151687420	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	61711966	151687420	19427647	26	9211											
EGFR	1956	broad.mit.edu	37	7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:55220295A>T	uc003tqk.3	+	5	931	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_uc003tqh.3_Missense_Mutation_p.S229C|EGFR_uc003tqi.3_Missense_Mutation_p.S229C|EGFR_uc003tqj.3_Missense_Mutation_p.S229C|EGFR_uc022adm.1_Missense_Mutation_p.S229C|EGFR_uc010kzg.2_Missense_Mutation_p.S184C|EGFR_uc022adn.1_Missense_Mutation_p.S184C|EGFR_uc011kco.2_Missense_Mutation_p.S176C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	229					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGTCCCCCAGTGACTGCTG	0.617		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220295	A	T	55220295	3	4	137	1	0	0	0	0	1	0	0	0	4967	188	7	5	707	5	EGFR	7	55220295	Missense_Mutation	SNP	A	TCGA-14-1395-01B-11D-1845-08		55220295	103918368	27	9212											
MUC17	140453	broad.mit.edu	37	7	100677499	100677499	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:100677499G>A	uc003uxp.1	+	2	2855	c.2802G>A	c.(2800-2802)acG>acA	p.T934T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	934	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					ACAGCACCACGCCGGTAGTCA	0.512													A	100677499	G	A	100677499	2	1	137	1	0	0	0	0	0	0	0	1	9974	1074	38	1		1	MUC17	7	100677499	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	45457204	100677499	58461164	28	9213											
OR2F1	26211	broad.mit.edu	37	7	143657328	143657328	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:143657328C>A	uc003wds.1	+	0	309	c.265C>A	c.(265-267)Cat>Aat	p.H89N		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCTTGCAGAACATAAAGCCAT	0.512													A	143657328	C	A	143657328	3	1	137	1	0	0	0	0	1	0	0	0	10996	478	17	5	267	5	OR2F1	7	143657328	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	42979829	143657328	15481335	29	9214											
EZH2	2146	broad.mit.edu	37	7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:148512600T>C	uc003wfd.2	-	12	1722	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	EZH2_uc022aov.1_Missense_Mutation_p.K471R|EZH2_uc011kug.2_Missense_Mutation_p.K501R|EZH2_uc003wfb.2_Missense_Mutation_p.K515R|EZH2_uc003wfc.2_Missense_Mutation_p.K471R|EZH2_uc011kuh.2_Missense_Mutation_p.K501R	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	510					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R509G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL								C	148512600	T	C	148512600	3	2	137	1	0	0	0	0	1	0	0	0	5334	1609	56	4	743	4	EZH2	7	148512600	Missense_Mutation	SNP	T	TCGA-14-1395-01B-11D-1845-08	4855272	148512600	10626063	30	9215											
NCOA2	10499	broad.mit.edu	37	8	71068332	71068338	+	Frame_Shift_Del	DEL	ATCTTTA	ATCTTTA	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr8:71068332_71068338delATCTTTA	uc003xyn.1	-	10	2424_2430	c.2262_2268delTAAAGAT	c.(2260-2268)actaaagatfs	p.T754fs		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	754					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTAAACCAATATCTTTAGTATCATCTT	0.411			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								-	71068338	ATCTTTA	-	71068332	7	5	137	1	0	1	0	1	0	0	0	0	10229	446	16	0	2178	0	NCOA2	8	71068332	Frame_Shift_Del	DEL	ATCTTTA	TCGA-14-1395-01B-11D-1845-08		71068332	75295690	31	9216											
FAM75A6	389730	broad.mit.edu	37	9	43630642	43630642	+	Silent	SNP	G	G	A	rs2808959		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr9:43630642G>A	uc011lrb.2	-	0	89	c.60C>T	c.(58-60)agC>agT	p.S20S		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	20						integral to membrane		p.S20S(2)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						ATGGTGTGGAGCTGGGGGCGT	0.473													A	43630642	G	A	43630642	2	1	137	1	0	0	0	0	0	0	0	1	5622	962	34	3		3	FAM75A6	9	43630642	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08		43630642	97582789	32	9217											
COL5A1	1289	broad.mit.edu	37	9	137676834	137676834	+	Splice_Site	SNP	G	G	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr9:137676834G>T	uc004cfe.3	+	30	2867	c.2485_splice	c.e30-1	p.G829_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	829	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGCTTGCAGGGGGAGATCG	0.632													T	137676834	G	T	137676834	5	4	137	1	0	0	0	0	0	0	1	0	3696	1014	35	5	2602	5	COL5A1	9	137676834	Splice_Site	SNP	G	TCGA-14-1395-01B-11D-1845-08	94046192	137676834	3536597	33	9218											
CUBN	8029	broad.mit.edu	37	10	16994307	16994307	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:16994307delT	uc001ioo.3	-	32	4989	c.4937delA	c.(4936-4938)aacfs	p.N1646fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1646	CUB 11.				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			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)	CCAGCTGCAGTTCTGATTGTT	0.478													-	16994307	T	-	16994307	7	5	137	1	0	1	0	1	0	0	0	0	4051	1725	60	0	6074	0	CUBN	10	16994307	Frame_Shift_Del	DEL	T	TCGA-14-1395-01B-11D-1845-08		16994307	118540440	34	9219											
PTEN	5728	broad.mit.edu	37	10	89711928	89711928	+	Frame_Shift_Del	DEL	A	A	-			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:89711928delA	uc001kfb.3	+	5	1578	c.546delA	c.(544-546)ttafs	p.L182fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	182	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.L182fs*16(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.L182F(2)|p.Y27_N212>Y(2)|p.L181fs*2(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.V175fs*3(1)|p.L182*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTACCTGTTAAAGAATCATC	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89711928	A	-	89711928	7	5	137	1	0	1	0	1	0	0	0	0	12738	359	13	0	568	0	PTEN	10	89711928	Frame_Shift_Del	DEL	A	TCGA-14-1395-01B-11D-1845-08	72717621	89711928	45822819	35	9220											
SORCS3	22986	broad.mit.edu	37	10	106960921	106960921	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:106960921G>A	uc001kyi.1	+	15	2398	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	724						integral to membrane	neuropeptide receptor activity	p.R724H(2)		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)		TTCAAGAAACGTAAGCCAGGA	0.468													A	106960921	G	A	106960921	3	1	137	1	0	0	0	0	1	0	0	0	14932	1145	40	1	2233	1	SORCS3	10	106960921	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	17248993	106960921	28573826	36	9221											
OR51G1	79324	broad.mit.edu	37	11	4944755	4944755	+	Missense_Mutation	SNP	C	C	T	rs146006146	by1000genomes	TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:4944755C>T	uc010qyr.2	-	0	815	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGTACAACGCGGGGCAGATG	0.502													T	4944755	C	T	4944755	3	4	137	1	0	0	0	0	1	0	0	0	11098	768	27	1	152	1	OR51G1	11	4944755	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		4944755	130061761	37	9222											
LPXN	9404	broad.mit.edu	37	11	58338166	58338166	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:58338166C>T	uc001nmw.3	-	1	179	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Missense_Mutation_p.E17K|LPXN_uc010rkk.2_Nonsense_Mutation_p.W7*	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	12					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTGGAGCGTTCCAGTTCCTCC	0.433													T	58338166	C	T	58338166	3	4	137	1	0	0	0	0	1	0	0	0	8929	864	30	3	1158	3	LPXN	11	58338166	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	53393411	58338166	76668350	38	9223											
DAGLA	747	broad.mit.edu	37	11	61511463	61511463	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:61511463C>T	uc001nsa.3	+	19	2747	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	877					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGCCAATGACGAGGAGGAAG	0.726													T	61511463	C	T	61511463	2	4	137	1	0	0	0	0	0	0	0	1	4226	535	19	1		1	DAGLA	11	61511463	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08	3173297	61511463	73495053	39	9224											
TRIM49	57093	broad.mit.edu	37	11	89531775	89531775	+	Silent	SNP	T	T	C			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:89531775T>C	uc001pdb.3	-	7	1211	c.882A>G	c.(880-882)gaA>gaG	p.E294E		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	294	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGGCTTCTTCATGATGCA	0.313													C	89531775	T	C	89531775	2	2	137	1	0	0	0	0	0	0	0	1	16521	1606	56	4		4	TRIM49	11	89531775	Silent	SNP	T	TCGA-14-1395-01B-11D-1845-08	28020312	89531775	45474741	40	9225											
BARX2	8538	broad.mit.edu	37	11	129306839	129306839	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:129306839G>A	uc001qfc.4	+	1	431	c.381G>A	c.(379-381)acG>acA	p.T127T		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	127										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AACAGCCCACGCCCCGACAGA	0.637													A	129306839	G	A	129306839	2	1	137	1	0	0	0	0	0	0	0	1	1316	1074	38	1		1	BARX2	11	129306839	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	39775064	129306839	5699677	41	9226											
SLC38A4	55089	broad.mit.edu	37	12	47186771	47186771	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:47186771G>A	uc001rpi.2	-	2	483	c.84C>T	c.(82-84)atC>atT	p.I28I	SLC38A4_uc001rpj.2_Silent_p.I28I|SLC38A4_uc009zkl.2_Silent_p.I28I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	28					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCCTATCCCGATGTAGCTAT	0.438													A	47186771	G	A	47186771	2	1	137	1	0	0	0	0	0	0	0	1	14606	1048	37	2		2	SLC38A4	12	47186771	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08		47186771	86665124	42	9227											
TRHDE	29953	broad.mit.edu	37	12	73046870	73046870	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:73046870G>A	uc001sxa.3	+	16	2813	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	928					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.A927S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGTAGCTCGAAATCCACAT	0.353													A	73046870	G	A	73046870	3	1	137	1	0	0	0	0	1	0	0	0	16476	1058	37	2	2849	2	TRHDE	12	73046870	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	25860099	73046870	60805025	43	9228											
SLC5A8	160728	broad.mit.edu	37	12	101588904	101588904	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:101588904G>A	uc001thz.4	-	3	896	c.506C>T	c.(505-507)aCg>aTg	p.T169M		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	169					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACCACCCCCGTTGCCACTAC	0.398													A	101588904	G	A	101588904	3	1	137	1	0	0	0	0	1	0	0	0	14671	1145	40	1	1374	1	SLC5A8	12	101588904	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	28542034	101588904	32262991	44	9229											
TMEM132D	121256	broad.mit.edu	37	12	130185158	130185158	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:130185158G>A	uc009zyl.1	-	1	493	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	55						integral to membrane		p.N55T(1)		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)		AGACGTCCGCGTTGTTGATGT	0.547													A	130185158	G	A	130185158	2	1	137	1	0	0	0	0	0	0	0	1	16044	1136	40	1		1	TMEM132D	12	130185158	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	28596254	130185158	3666737	45	9230											
MTUS2	23281	broad.mit.edu	37	13	29599206	29599206	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr13:29599206C>T	uc001usl.4	+	0	459	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	124						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGCAGACCACGCGGAGTATT	0.502													T	29599206	C	T	29599206	3	4	137	1	0	0	0	0	1	0	0	0	9966	536	19	1	403	1	MTUS2	13	29599206	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		29599206	85570672	46	9231											
KIF26A	26153	broad.mit.edu	37	14	104641823	104641823	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr14:104641823C>T	uc001yos.4	+	11	2698	c.2698C>T	c.(2698-2700)Cga>Tga	p.R900*		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	900					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAGCACCCCTCGAGGCAGTTC	0.692													T	104641823	C	T	104641823	4	4	137	1	0	0	0	0	0	1	0	0	8294	876	31	2	2744	2	KIF26A	14	104641823	Nonsense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		104641823	2707717	47	9232											
CA12	771	broad.mit.edu	37	15	63618489	63618489	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr15:63618489C>T	uc002amc.3	-	10	1216	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	CA12_uc002amd.3_Missense_Mutation_p.A343T|CA12_uc002ame.3_Missense_Mutation_p.A283T	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	354					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	p.H353H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GGACCTCAAGCGTGGGCCTCA	0.507													T	63618489	C	T	63618489	3	4	137	1	0	0	0	0	1	0	0	0	2513	768	27	1	8	1	CA12	15	63618489	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		63618489	38912903	48	9233											
GOLGA6B	55889	broad.mit.edu	37	15	72954612	72954612	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr15:72954612G>A	uc010uks.1	+	10	908	c.867G>A	c.(865-867)gcG>gcA	p.A289A	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	289								p.A289A(2)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537													A	72954612	G	A	72954612	2	1	137	1	0	0	0	0	0	0	0	1	6558	1074	38	1		1	GOLGA6B	15	72954612	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	9336123	72954612	29576780	49	9234											
AURKB	9212	broad.mit.edu	37	17	8108652	8108652	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:8108652C>T	uc002gkn.3	-	7	807	c.746G>A	c.(745-747)cGc>cAc	p.R249H	AURKB_uc021tpy.1_Missense_Mutation_p.R216H|AURKB_uc010cnu.3_Missense_Mutation_p.R68H|AURKB_uc002gkm.3_Missense_Mutation_p.R248H|AURKB_uc010vuu.2_Missense_Mutation_p.R207H|AURKB_uc002gko.3_Non-coding_Transcript	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	Homo sapiens aurora kinase B (AURKB), mRNA.	248	Protein kinase.			MH -> ID (in Ref. 3; BAA82709).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						ATTGTGCATGCGCCCCTCAAT	0.572													T	8108652	C	T	8108652	3	4	137	1	0	0	0	0	1	0	0	0	1223	768	27	1	299	1	AURKB	17	8108652	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		8108652	73086558	50	9235											
KRT20	54474	broad.mit.edu	37	17	39041110	39041110	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:39041110C>T	uc002hvl.3	-	0	386	c.328G>A	c.(328-330)Gcc>Acc	p.A110T		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	110	Linker 1.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCCCTCGGGGCGTTGGTTTCG	0.498													T	39041110	C	T	39041110	3	4	137	1	0	0	0	0	1	0	0	0	8458	768	27	1	978	1	KRT20	17	39041110	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	30932458	39041110	42154100	51	9236											
PLEKHH3	79990	broad.mit.edu	37	17	40823101	40823101	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:40823101G>A	uc002iau.2	-	8	1799	c.1332C>T	c.(1330-1332)aaC>aaT	p.N444N	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Silent_p.N444N	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	444	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCGCGAATGCGTTGCGGCTCC	0.657													A	40823101	G	A	40823101	2	1	137	1	0	0	0	0	0	0	0	1	12078	1136	40	1		1	PLEKHH3	17	40823101	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	1781991	40823101	40372109	52	9237											
ST8SIA5	29906	broad.mit.edu	37	18	44260326	44260326	+	Silent	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr18:44260326C>T	uc010xcy.1	-	7	1486	c.918G>A	c.(916-918)tcG>tcA	p.S306S	ST8SIA5_uc002lci.1_Silent_p.S117S|ST8SIA5_uc002lcj.1_Silent_p.S270S|ST8SIA5_uc010xcz.1_Silent_p.S239S	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	270					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCTTGCGGCGATTCGAAGT	0.617													T	44260326	C	T	44260326	2	4	137	1	0	0	0	0	0	0	0	1	15234	755	27	1		1	ST8SIA5	18	44260326	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08		44260326	33816922	53	9238											
HOOK2	29911	broad.mit.edu	37	19	12874555	12874555	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:12874555G>A	uc002muy.2	-	20	2036	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	HOOK2_uc002muz.2_Missense_Mutation_p.A620V	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	622	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGGTGCCCCCGCAGCTGGCCG	0.602													A	12874555	G	A	12874555	3	1	137	1	0	0	0	0	1	0	0	0	7283	1087	38	1	306	1	HOOK2	19	12874555	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		12874555	46254428	54	9239											
MAST3	23031	broad.mit.edu	37	19	18255858	18255858	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:18255858C>G	uc002nhz.4	+	22	2771	c.2771C>G	c.(2770-2772)tCt>tGt	p.S924C		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	924	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCCCCGCGCTCTCTGTCCTCG	0.692													G	18255858	C	G	18255858	3	3	137	1	0	0	0	0	1	0	0	0	9326	913	32	5	2861	5	MAST3	19	18255858	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	5381303	18255858	40873125	55	9240											
ZNF569	148266	broad.mit.edu	37	19	37903536	37903536	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:37903536G>A	uc002ogj.3	-	8	3028	c.2096C>T	c.(2095-2097)tCg>tTg	p.S699L	ZNF569_uc002ogh.3_Missense_Mutation_p.S516L|ZNF569_uc002ogi.3_Missense_Mutation_p.S675L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)			AACAAGGTGCGACTTTTGGCT	0.413													A	37903536	G	A	37903536	3	1	137	1	0	0	0	0	1	0	0	0	17997	1059	37	2	40	2	ZNF569	19	37903536	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	19647678	37903536	21225447	56	9241											
MED29	55588	broad.mit.edu	37	19	39883120	39883120	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:39883120C>T	uc002olf.3	+	1	333	c.296C>T	c.(295-297)gCg>gTg	p.A99V	PAF1_uc002old.3_5'Flank|PAF1_uc010xuv.2_5'Flank|PAF1_uc002ole.1_5'Flank|MED29_uc010xux.2_Intron	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	Homo sapiens mediator complex subunit 29 (MED29), mRNA.	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGAAGGTTGCGGCCCAAAAC	0.418													T	39883120	C	T	39883120	3	4	137	1	0	0	0	0	1	0	0	0	9447	768	27	1	302	1	MED29	19	39883120	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	1979584	39883120	19245863	57	9242											
ZNF229	7772	broad.mit.edu	37	19	44932748	44932748	+	Silent	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:44932748G>A	uc002oze.1	-	5	2642	c.2208C>T	c.(2206-2208)ggC>ggT	p.G736G	ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G736G(4)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGGCTTCTCGCCAGTGTGCA	0.488													A	44932748	G	A	44932748	2	1	137	1	0	0	0	0	0	0	0	1	17779	1074	38	1		1	ZNF229	19	44932748	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	5049628	44932748	14196235	58	9243											
GRIN2D	2906	broad.mit.edu	37	19	48919313	48919313	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:48919313C>T	uc002pjc.4	+	6	1724	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	546						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CAACGAGGAGCGCTCCGAGAT	0.672													T	48919313	C	T	48919313	3	4	137	1	0	0	0	0	1	0	0	0	6782	768	27	1	1658	1	GRIN2D	19	48919313	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	3986565	48919313	10209670	59	9244											
ZNF320	162967	broad.mit.edu	37	19	53384360	53384360	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:53384360C>T	uc002qag.3	-	3	1210	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.R286H|ZNF320_uc002qai.3_Missense_Mutation_p.R340H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATGTGATTTGCGACTGAAAAC	0.428													T	53384360	C	T	53384360	3	4	137	1	0	0	0	0	1	0	0	0	17836	768	27	1	514	1	ZNF320	19	53384360	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	4465047	53384360	5744623	60	9245											
ZNF677	342926	broad.mit.edu	37	19	53741592	53741592	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:53741592G>T	uc002qbg.1	-	4	539	c.388C>A	c.(388-390)Cac>Aac	p.H130N	ZNF677_uc002qbf.1_Missense_Mutation_p.H130N	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H130P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCTTTTCTGTGAGTGAGATTT	0.353													T	53741592	G	T	53741592	3	4	137	1	0	0	0	0	1	0	0	0	18081	1290	45	5	1370	5	ZNF677	19	53741592	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	357232	53741592	5387391	61	9246											
TRPM2	7226	broad.mit.edu	37	21	45821664	45821664	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr21:45821664G>A	uc010gpt.1	+	15	2522	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	TRPM2_uc002zet.1_Missense_Mutation_p.A808T|TRPM2_uc002zeu.1_Missense_Mutation_p.A808T|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.A808T|TRPM2_uc002zex.1_Missense_Mutation_p.A594T|TRPM2_uc002zey.1_Missense_Mutation_p.A321T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	808						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.F807F(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCTACTTCGCCTTCCTCTG	0.632													A	45821664	G	A	45821664	3	1	137	1	0	0	0	0	1	0	0	0	16583	1087	38	1	2484	1	TRPM2	21	45821664	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		45821664	2308231	62	9247											
CABIN1	23523	broad.mit.edu	37	22	24483514	24483514	+	Missense_Mutation	SNP	G	G	A	rs148592192		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr22:24483514G>A	uc002zzi.1	+	22	3500	c.3373G>A	c.(3373-3375)Gtc>Atc	p.V1125I	CABIN1_uc021wnc.1_Missense_Mutation_p.V1075I|CABIN1_uc002zzj.1_Missense_Mutation_p.V1075I|CABIN1_uc002zzl.2_Missense_Mutation_p.V1125I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1125					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCCACGCCCGTCTTGAACTG	0.577													A	24483514	G	A	24483514	3	1	137	1	0	0	0	0	1	0	0	0	2528	1145	40	1	3459	1	CABIN1	22	24483514	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		24483514	26821052	63	9248											
MAGEC1	9947	broad.mit.edu	37	X	140994696	140994696	+	Silent	SNP	T	T	A			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chrX:140994696T>A	uc004fbt.3	+	3	1830	c.1506T>A	c.(1504-1506)acT>acA	p.T502T	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.T161T	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	502							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGTGTACTCAAAGTACTT	0.498										HNSCC(15;0.026)			A	140994696	T	A	140994696	2	1	137	1	0	0	0	0	0	0	0	1	9180	1538	54	5		5	MAGEC1	23	140994696	Silent	SNP	T	TCGA-14-1395-01B-11D-1845-08		140994696	14275864	64	9249											
C8A	731	broad.mit.edu	37	1	57333307	57333307	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:57333307G>A	uc001cyo.2	+	1	235	c.103G>A	c.(103-105)Gca>Aca	p.A35T		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	35					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.A35T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCTACACCCGCAGCAGTTAC	0.468													A	57333307	G	A	57333307	3	1	138	1	0	0	0	0	1	0	0	0	2416	1087	38	1	109	1	C8A	1	57333307	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08		57333307	191917314	1	9250											
SRGAP2	23380	broad.mit.edu	37	1	121115895	121115895	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:121115895G>A	uc001eis.2	+	1	129	c.61G>A	c.(61-63)Gcg>Acg	p.A21T		NM_001042758	NP_001036223	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 2, mRNA.	184					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTAAAGGAGGCGGAGAAGCA	0.547													A	121115895	G	A	121115895	3	1	138	1	0	0	0	0	1	0	0	0	15145	1218	42	3		3	SRGAP2	1	121115895	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	63782588	121115895	128134726	2	9251											
PRCC	5546	broad.mit.edu	37	1	156764463	156764463	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:156764463C>T	uc001fqa.3	+	4	1476	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	396					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGTTTAAGCGGCTGCAGGG	0.478			T	TFE3	papillary renal								T	156764463	C	T	156764463	3	4	138	1	0	0	0	0	1	0	0	0	12447	759	27	1	1204	1	PRCC	1	156764463	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	35648568	156764463	92486158	3	9252											
CACNA1E	777	broad.mit.edu	37	1	181689358	181689358	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:181689358C>T	uc009wxt.3	+	13	1963	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	CACNA1E_uc001gow.3_Missense_Mutation_p.R590W|CACNA1E_uc009wxs.3_Missense_Mutation_p.R590W	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	590					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R590W(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCTTCCCTACGGAATTTGGT	0.478													T	181689358	C	T	181689358	3	4	138	1	0	0	0	0	1	0	0	0	2542	527	19	1	1822	1	CACNA1E	1	181689358	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	24924895	181689358	67561263	4	9253											
PROX1	5629	broad.mit.edu	37	1	214170642	214170642	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:214170642A>G	uc001hkh.3	+	1	1036	c.764A>G	c.(763-765)gAa>gGa	p.E255G	PROX1_uc001hkg.1_Missense_Mutation_p.E255G	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	255					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAGCTGCAGGAAAAGTTCTAC	0.532													G	214170642	A	G	214170642	3	3	138	1	0	0	0	0	1	0	0	0	12560	246	9	4	766	4	PROX1	1	214170642	Missense_Mutation	SNP	A	TCGA-14-1450-01B-01D-1845-08	32481284	214170642	35079979	5	9254											
HEATR5B	54497	broad.mit.edu	37	2	37215846	37215846	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:37215846C>T	uc002rpp.1	-	34	5950	c.5854G>A	c.(5854-5856)Gtt>Att	p.V1952I	HEATR5B_uc010ezy.1_Missense_Mutation_p.V447I	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1952							binding	p.A1951A(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCTTCTTGAACCGCTAAAAGC	0.348													T	37215846	C	T	37215846	3	4	138	1	0	0	0	0	1	0	0	0	7032	507	18	3	369	3	HEATR5B	2	37215846	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		37215846	205983527	6	9255											
RGPD4	285190	broad.mit.edu	37	2	108443529	108443529	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:108443529G>A	uc010ywk.2	+	0	142	c.60G>A	c.(58-60)ccG>ccA	p.P20P	LOC729121_uc010ywj.1_5'Flank|LOC729121_uc002tdt.2_5'Flank	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	20					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCTCCGCCCCGTCGCCTCGAA	0.711													A	108443529	G	A	108443529	2	1	138	1	0	0	0	0	0	0	0	1	13288	1132	40	1		1	RGPD4	2	108443529	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	71227683	108443529	134755844	7	9256											
IL1RN	3557	broad.mit.edu	37	2	113890404	113890404	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:113890404G>A	uc002tjb.3	+	3	554	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.E167K|IL1RN_uc002tiy.3_Missense_Mutation_p.E130K|IL1RN_uc002tja.3_Missense_Mutation_p.E146K	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	164					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TATGCCTGACGAAGGCGTCAT	0.592									Lichen Sclerosis et Atrophicus, Familial Clustering of				A	113890404	G	A	113890404	3	1	138	1	0	0	0	0	1	0	0	0	7665	1059	37	2	585	2	IL1RN	2	113890404	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	5446875	113890404	129308969	8	9257											
ALPPL2	251	broad.mit.edu	37	2	233274348	233274348	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:233274348C>T	uc002vss.4	+	10	1418	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	455					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CAGGCGAGGACGTGGCGGTGT	0.662													T	233274348	C	T	233274348	2	4	138	1	0	0	0	0	0	0	0	1	549	535	19	1		1	ALPPL2	2	233274348	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	119383944	233274348	9925025	9	9258											
CSN3	1448	broad.mit.edu	37	4	71114964	71114964	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:71114964C>A	uc003hfe.4	+	3	395	c.337C>A	c.(337-339)Ctg>Atg	p.L113M		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	113						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCGCCCAAACCTGCATCCATC	0.468													A	71114964	C	A	71114964	3	1	138	1	0	0	0	0	1	0	0	0	3949	680	24	5	347	5	CSN3	4	71114964	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		71114964	120039312	10	9259											
ANKRD17	26057	broad.mit.edu	37	4	73984505	73984505	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:73984505C>T	uc003hgp.3	-	21	4205	c.4088G>A	c.(4087-4089)gGt>gAt	p.G1363D	ANKRD17_uc003hgo.3_Missense_Mutation_p.G1250D|ANKRD17_uc003hgq.3_Missense_Mutation_p.G1112D|ANKRD17_uc003hgr.3_Missense_Mutation_p.G1362D|ANKRD17_uc011cbd.1_Missense_Mutation_p.G928D	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1363					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGGTGTCCACCATTTGCTGC	0.443													T	73984505	C	T	73984505	3	4	138	1	0	0	0	0	1	0	0	0	646	507	18	3	3775	3	ANKRD17	4	73984505	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	2869541	73984505	117169771	11	9260											
ADH1B	125	broad.mit.edu	37	4	100239237	100239237	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:100239237C>A	uc003hus.4	-	2	309	c.225G>T	c.(223-225)gaG>gaT	p.E75D	ADH1B_uc003hut.4_Missense_Mutation_p.E35D|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.E35D	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	75					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.V74M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTCCAACACTCTCCACGATGC	0.537													A	100239237	C	A	100239237	3	1	138	1	0	0	0	0	1	0	0	0	308	912	32	5	930	5	ADH1B	4	100239237	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	26254732	100239237	90915039	12	9261											
ADH1C	126	broad.mit.edu	37	4	100268197	100268197	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:100268197T>A	uc021xqi.1	-	2		c.310A>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTCAAACACTTTCCACGATGC	0.517													A	100268197	T	A	100268197	3	1	138	1	0	0	0	0	1	0	0	0	309	1838	64	5	930	5	ADH1C	4	100268197	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	28960	100268197	90886079	13	9262											
MMAA	166785	broad.mit.edu	37	4	146576356	146576356	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:146576356A>T	uc003ikh.4	+	6	1112	c.1027A>T	c.(1027-1029)Aaa>Taa	p.K343*	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	343						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGATAAAATGAAAGATTTCCA	0.428													T	146576356	A	T	146576356	4	4	138	1	0	0	0	0	0	1	0	0	9639	247	9	5	1049	5	MMAA	4	146576356	Nonsense_Mutation	SNP	A	TCGA-14-1450-01B-01D-1845-08	46308159	146576356	44577920	14	9263											
CCDC110	256309	broad.mit.edu	37	4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:186382220G>A	uc003ixu.4	-	4	407	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_uc003ixv.4_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.R111C	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	111						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338													A	186382220	G	A	186382220	3	1	138	1	0	0	0	0	1	0	0	0	2747	1087	38	1	2182	1	CCDC110	4	186382220	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	39805864	186382220	4772056	15	9264											
FBN2	2201	broad.mit.edu	37	5	127671244	127671244	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:127671244G>A	uc003kuu.3	-	28	4189	c.3750C>T	c.(3748-3750)aaC>aaT	p.N1250N	FBN2_uc003kuv.2_Silent_p.N1217N	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1250	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGCCTCCGTTCATTATCA	0.438													A	127671244	G	A	127671244	2	1	138	1	0	0	0	0	0	0	0	1	5703	1136	40	1		1	FBN2	5	127671244	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08		127671244	53244016	16	9265											
PCDHAC2	56145	broad.mit.edu	37	5	140181057	140181057	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:140181057G>A	uc003lhf.2	+	0	275	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.R92H	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	107	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATAGACCGCGAGGAACTG	0.587													A	140181057	G	A	140181057	3	1	138	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140181057	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	12509813	140181057	40734203	17	9266											
N4BP3	23138	broad.mit.edu	37	5	177547367	177547367	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:177547367C>T	uc003mik.1	+	2	766	c.519C>T	c.(517-519)caC>caT	p.H173H	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	173						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			AGCTGCTGCACGCCCTCAGCC	0.711													T	177547367	C	T	177547367	2	4	138	1	0	0	0	0	0	0	0	1	10113	535	19	1		1	N4BP3	5	177547367	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	37366310	177547367	3367893	18	9267											
OR2Y1	134083	broad.mit.edu	37	5	180166656	180166656	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:180166656T>C	uc003mmf.1	-	0	403	c.403A>G	c.(403-405)Atc>Gtc	p.I135V		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGCATGATGGCCATGTAG	0.587													C	180166656	T	C	180166656	3	2	138	1	0	0	0	0	1	0	0	0	11035	1464	51	4	536	4	OR2Y1	5	180166656	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	2619289	180166656	748604	19	9268											
PKHD1	5314	broad.mit.edu	37	6	51918901	51918901	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:51918901G>A	uc003pah.1	-	19	2175	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	PKHD1_uc003pai.3_Silent_p.I633I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	633					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			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)					TTTGAAAGCCGATTGTGAAGG	0.478													A	51918901	G	A	51918901	2	1	138	1	0	0	0	0	0	0	0	1	11971	1048	37	2		2	PKHD1	6	51918901	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08		51918901	119196166	20	9269											
NMBR	4829	broad.mit.edu	37	6	142397171	142397171	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:142397171G>A	uc003qiu.3	-	2	928	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	263					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTAGCCAGGCGTTTCCGTGTT	0.388													A	142397171	G	A	142397171	3	1	138	1	0	0	0	0	1	0	0	0	10487	1145	40	1	389	1	NMBR	6	142397171	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	90478270	142397171	28717896	21	9270											
PPP1R14C	81706	broad.mit.edu	37	6	150464589	150464589	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:150464589G>A	uc003qnt.3	+	0	402	c.261G>A	c.(259-261)ctG>ctA	p.L87L		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	87					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		GGCTGGTGCTGGAGGAATGGA	0.637													A	150464589	G	A	150464589	2	1	138	1	0	0	0	0	0	0	0	1	12361	1335	47	3		3	PPP1R14C	6	150464589	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	8067418	150464589	20650478	22	9271											
PRPS1L1	221823	broad.mit.edu	37	7	18067222	18067222	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:18067222C>T	uc003stz.3	-	0	265	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	62					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCGTTGATTTCGCCACAACCA	0.473													T	18067222	C	T	18067222	3	4	138	1	0	0	0	0	1	0	0	0	12579	893	31	2	776	2	PRPS1L1	7	18067222	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		18067222	141071441	23	9272											
MLXIPL	51085	broad.mit.edu	37	7	73011080	73011080	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:73011080G>A	uc003tyn.1	-	10	1759	c.1711C>T	c.(1711-1713)Ccg>Tcg	p.P571S	MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.P571S|MLXIPL_uc003tym.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.P477S|MLXIPL_uc003tyq.1_Missense_Mutation_p.P338S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	571					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCCGGGGTCGGGGGAAGGAAT	0.701													A	73011080	G	A	73011080	3	1	138	1	0	0	0	0	1	0	0	0	9637	1232	43	3	875	3	MLXIPL	7	73011080	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	54943858	73011080	86127583	24	9273											
DYNC1I1	1780	broad.mit.edu	37	7	95616403	95616403	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:95616403G>A	uc003uoc.4	+	8	1107	c.830G>A	c.(829-831)cGt>cAt	p.R277H	DYNC1I1_uc003uod.4_Missense_Mutation_p.R260H|DYNC1I1_uc003uob.3_Missense_Mutation_p.R240H|DYNC1I1_uc003uoe.4_Missense_Mutation_p.R257H|DYNC1I1_uc010lfl.3_Missense_Mutation_p.R266H	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	277					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTTTCAATCGTCAGTTCTAT	0.443													A	95616403	G	A	95616403	3	1	138	1	0	0	0	0	1	0	0	0	4842	1145	40	1	860	1	DYNC1I1	7	95616403	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	22605323	95616403	63522260	25	9274											
CYP3A7	1577	broad.mit.edu	37	7	99332692	99332692	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:99332692C>T	uc003uru.3	-	0	128	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_5'UTR|CYP3A7_uc010lgg.3_Missense_Mutation_p.V9M	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	9					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAGGTTTCCACGGCCAAGTTT	0.498													T	99332692	C	T	99332692	1	4	138	1	0	0	0	0	0	0	0	0	4181	536	19	1		1	CYP3A7	7	99332692	Translation_Start_Site	SNP	C	TCGA-14-1450-01B-01D-1845-08	3716289	99332692	59805971	26	9275											
MLL5	55904	broad.mit.edu	37	7	104681416	104681416	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:104681416C>T	uc003vcm.3	+	2	551	c.17C>T	c.(16-18)cCa>cTa	p.P6L	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P6L|MLL5_uc003vcl.3_Missense_Mutation_p.P6L|MLL5_uc010ljc.3_Missense_Mutation_p.P6L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	6					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ATAGTGATCCCATTGGGGGTT	0.428													T	104681416	C	T	104681416	3	4	138	1	0	0	0	0	1	0	0	0	9624	594	21	3	19	3	MLL5	7	104681416	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	5348724	104681416	54457247	27	9276											
PRKAR2B	5577	broad.mit.edu	37	7	106786905	106786905	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:106786905T>G	uc003vdx.3	+	6	916	c.741_splice	c.e6+1	p.L247_splice		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	247					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTGTGGGGTTTGGTGAGTAAA	0.398													G	106786905	T	G	106786905	3	3	138	1	0	0	0	0	1	0	0	0	12506	1826	63	5	762	5	PRKAR2B	7	106786905	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	2105489	106786905	52351758	28	9277											
DNAJB5	25822	broad.mit.edu	37	9	34996743	34996743	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:34996743C>T	uc011los.2	+	2	1270	c.909C>T	c.(907-909)ggC>ggT	p.G303G	DNAJB5_uc003zvs.3_Silent_p.G265G|DNAJB5_uc003zvt.3_Silent_p.G231G	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	231					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAAAGAAGGCGACGCCACAC	0.562													T	34996743	C	T	34996743	2	4	138	1	0	0	0	0	0	0	0	1	4623	755	27	1		1	DNAJB5	9	34996743	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		34996743	106216688	29	9278											
OR13C5	138799	broad.mit.edu	37	9	107360795	107360795	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:107360795G>T	uc011lvp.2	-	0	900	c.900C>A	c.(898-900)aaC>aaA	p.N300K		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCACATCCTTGTTTCTAAGAC	0.338													T	107360795	G	T	107360795	3	4	138	1	0	0	0	0	1	0	0	0	10937	1368	48	5	58	5	OR13C5	9	107360795	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	72364052	107360795	33852636	30	9279											
SH2D4B	387694	broad.mit.edu	37	10	82330026	82330026	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:82330026G>T	uc001kck.1	+	1	731	c.301G>T	c.(301-303)Gca>Tca	p.A101S	SH2D4B_uc001kcl.1_Missense_Mutation_p.A52S	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	100	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGAGCTGATTGCAGAGAGGGC	0.602													T	82330026	G	T	82330026	3	4	138	1	0	0	0	0	1	0	0	0	14236	1319	46	5	348	5	SH2D4B	10	82330026	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08		82330026	53204721	31	9280											
FAM178A	55719	broad.mit.edu	37	10	102710503	102710503	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:102710503G>A	uc001krs.3	+	16	3865	c.3323G>A	c.(3322-3324)gGa>gAa	p.G1108E	FAM178A_uc001krt.4_Missense_Mutation_p.G1108E	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	1108																	TTTTCTTCTGGACAACGGGTA	0.353													A	102710503	G	A	102710503	3	1	138	1	0	0	0	0	1	0	0	0	5503	1174	41	3	3389	3	FAM178A	10	102710503	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	20380477	102710503	32824244	32	9281											
TRIM8	81603	broad.mit.edu	37	10	104404874	104404874	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:104404874G>A	uc001kvz.2	+	0	623	c.500G>A	c.(499-501)tGc>tAc	p.C167Y		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	167						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGCCAGTACTGCTGCTACTAC	0.667													A	104404874	G	A	104404874	3	1	138	1	0	0	0	0	1	0	0	0	16545	1319	46	3	502	3	TRIM8	10	104404874	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	1694371	104404874	31129873	33	9282											
NRAP	4892	broad.mit.edu	37	10	115388695	115388695	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:115388695G>A	uc001lal.3	-	19	2290	c.2126C>T	c.(2125-2127)gCt>gTt	p.A709V	NRAP_uc009xyb.3_Missense_Mutation_p.A20V|NRAP_uc001laj.3_Missense_Mutation_p.A709V|NRAP_uc001lak.3_Missense_Mutation_p.A674V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	709						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGCTGTCCAGCCTTCTTGGC	0.547													A	115388695	G	A	115388695	3	1	138	1	0	0	0	0	1	0	0	0	10638	971	34	3	3158	3	NRAP	10	115388695	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	10983821	115388695	20146052	34	9283											
GFRA1	2674	broad.mit.edu	37	10	117884937	117884937	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:117884937G>A	uc001lcj.3	-	5	1263	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	GFRA1_uc001lci.3_Missense_Mutation_p.R184C|GFRA1_uc009xyr.3_Missense_Mutation_p.R184C	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	189					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CACTTGCGGCGGTTGCAGACA	0.607													A	117884937	G	A	117884937	3	1	138	1	0	0	0	0	1	0	0	0	6347	1116	39	2	856	2	GFRA1	10	117884937	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	2496242	117884937	17649810	35	9284											
MKI67	4288	broad.mit.edu	37	10	129905312	129905312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:129905312G>A	uc001lke.3	-	12	4987	c.4792C>T	c.(4792-4794)Cga>Tga	p.R1598*	MKI67_uc001lkf.3_Nonsense_Mutation_p.R1238*|MKI67_uc009yav.1_Nonsense_Mutation_p.R1173*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R748*	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1598	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGTGACCTCGTGTCTGGAAG	0.488													A	129905312	G	A	129905312	4	1	138	1	0	0	0	0	0	1	0	0	9598	1153	40	1	4990	1	MKI67	10	129905312	Nonsense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	12020375	129905312	5629435	36	9285											
MRGPRX4	117196	broad.mit.edu	37	11	18195645	18195645	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:18195645G>A	uc001mnv.1	+	0	1262	c.842G>A	c.(841-843)cGt>cAt	p.R281H		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	281						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTAGGCAGCGTCAAAATAGG	0.498													A	18195645	G	A	18195645	3	1	138	1	0	0	0	0	1	0	0	0	9769	1145	40	1	844	1	MRGPRX4	11	18195645	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08		18195645	116810871	37	9286											
OR5D18	219438	broad.mit.edu	37	11	55587380	55587380	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:55587380C>A	uc010rin.2	+	0	275	c.275C>A	c.(274-276)aCc>aAc	p.T92N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				AAAGACAGAACCATTTCATTT	0.418													A	55587380	C	A	55587380	3	1	138	1	0	0	0	0	1	0	0	0	11157	507	18	5	277	5	OR5D18	11	55587380	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	37391735	55587380	79419136	38	9287											
LRRC55	219527	broad.mit.edu	37	11	56949947	56949947	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:56949947C>T	uc001njl.2	+	0	727	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	164						integral to membrane		p.R194R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCCCTGGCTGCGGAGGGTGCA	0.617													T	56949947	C	T	56949947	3	4	138	1	0	0	0	0	1	0	0	0	9011	759	27	1	582	1	LRRC55	11	56949947	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	1362567	56949947	78056569	39	9288											
GLYATL2	219970	broad.mit.edu	37	11	58605817	58605817	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:58605817T>C	uc001nnd.4	-	2	234	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	GLYATL2_uc009ymq.3_Missense_Mutation_p.K35E	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	35						mitochondrion	glycine N-acyltransferase activity			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)	TTTTTATCTTTTATGTTGAAA	0.423													C	58605817	T	C	58605817	3	2	138	1	0	0	0	0	1	0	0	0	6481	1850	64	4	797	4	GLYATL2	11	58605817	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	1655870	58605817	76400699	40	9289											
C11orf82	220042	broad.mit.edu	37	11	82643154	82643154	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:82643154T>A	uc001ozt.3	+	5	1018	c.774T>A	c.(772-774)ttT>ttA	p.F258L	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	258					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATGATGATTTTTCAGCTTCAG	0.413													A	82643154	T	A	82643154	3	1	138	1	0	0	0	0	1	0	0	0	1665	1838	64	5	788	5	C11orf82	11	82643154	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	24037337	82643154	52363362	41	9290											
DDX10	1662	broad.mit.edu	37	11	108788719	108788719	+	Silent	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:108788719T>C	uc001pkm.3	+	16	2489	c.2424T>C	c.(2422-2424)gaT>gaC	p.D808D	DDX10_uc001pkl.1_Silent_p.D808D	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	808							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGATTCAGATAGTGAAGATA	0.343			T	NUP98	AML*								C	108788719	T	C	108788719	2	2	138	1	0	0	0	0	0	0	0	1	4342	1403	49	4		4	DDX10	11	108788719	Silent	SNP	T	TCGA-14-1450-01B-01D-1845-08	26145565	108788719	26217797	42	9291											
FAM55D	54827	broad.mit.edu	37	11	114453240	114453240	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:114453240G>A	uc001ppc.3	-	2	781	c.600C>T	c.(598-600)gaC>gaT	p.D200D	FAM55D_uc001ppd.3_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	200						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		AGATCACCCTGTCATAGCCTT	0.532													A	114453240	G	A	114453240	2	1	138	1	0	0	0	0	0	0	0	1	5587	1368	48	3		3	FAM55D	11	114453240	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	5664521	114453240	20553276	43	9292											
ETS1	2113	broad.mit.edu	37	11	128354828	128354828	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:128354828G>A	uc010sbs.1	-	4	936	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ETS1_uc001qej.2_Missense_Mutation_p.S251L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S207L	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	207					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.S207L(2)|p.S251L(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)		GAGAATGACCGAGGGGTAGTC	0.522													A	128354828	G	A	128354828	3	1	138	1	0	0	0	0	1	0	0	0	5275	1059	37	2	721	2	ETS1	11	128354828	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	13901588	128354828	6651688	44	9293											
GDF3	9573	broad.mit.edu	37	12	7848193	7848193	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:7848193G>A	uc001qte.3	-	0	168	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	44					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCACAGGTTGGAACTTCTGGG	0.498													A	7848193	G	A	7848193	2	1	138	1	0	0	0	0	0	0	0	1	6315	1165	41	3		3	GDF3	12	7848193	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08		7848193	126003702	45	9294											
GLI1	2735	broad.mit.edu	37	12	57861990	57861990	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:57861990G>C	uc001snx.3	+	9	1385	c.1291G>C	c.(1291-1293)Gtg>Ctg	p.V431L	GLI1_uc021qzi.1_Missense_Mutation_p.V390L|GLI1_uc009zpq.3_Missense_Mutation_p.V303L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	431					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGACTGACTGTGCCAGAGGG	0.602													C	57861990	G	C	57861990	3	2	138	1	0	0	0	0	1	0	0	0	6437	1377	48	5	1325	5	GLI1	12	57861990	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	50013797	57861990	75989905	46	9295											
LGR5	8549	broad.mit.edu	37	12	71974190	71974190	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:71974190G>A	uc001swl.3	+	15	1587	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	LGR5_uc001swm.3_Missense_Mutation_p.M489I|LGR5_uc021rar.1_Missense_Mutation_p.M441I|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	513						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATGCTGGAATGTTTCAGGCTC	0.388													A	71974190	G	A	71974190	3	1	138	1	0	0	0	0	1	0	0	0	8757	1377	48	3	1601	3	LGR5	12	71974190	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	14112200	71974190	61877705	47	9296											
C12orf51	283450	broad.mit.edu	37	12	112622897	112622897	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:112622897C>T	uc021reb.1	-	60	9867	c.9471G>A	c.(9469-9471)tcG>tcA	p.S3157S		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGGAGGAGGACGAGTCACTGA	0.592													T	112622897	C	T	112622897	2	4	138	1	0	0	0	0	0	0	0	1	1696	523	19	1		1	C12orf51	12	112622897	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	40648707	112622897	21228998	48	9297											
TUBA3C	7278	broad.mit.edu	37	13	19752399	19752399	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr13:19752399C>T	uc009zzj.3	-	2	467	c.362G>A	c.(361-363)cGg>cAg	p.R121Q		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	121					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTTGCGGATCCGGTCCAGGAC	0.522													T	19752399	C	T	19752399	3	4	138	1	0	0	0	0	1	0	0	0	16743	652	23	2	1002	2	TUBA3C	13	19752399	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		19752399	95417479	49	9298											
FLT1	2321	broad.mit.edu	37	13	28919630	28919630	+	Silent	SNP	C	C	T	rs142392658		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr13:28919630C>T	uc001usb.3	-	15	2592	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	FLT1_uc001usa.3_5'UTR	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	769					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.A769S(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)	AGAAGAGAGTCGCAGCCACAC	0.398													T	28919630	C	T	28919630	2	4	138	1	0	0	0	0	0	0	0	1	5941	871	31	2		2	FLT1	13	28919630	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	9167231	28919630	86250248	50	9299											
TEP1	7011	broad.mit.edu	37	14	20871545	20871545	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:20871545C>T	uc001vxe.3	-	6	1297	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.E311E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	419	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			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)		CCTTTCTCTGCTCTTCTCTGA	0.408													T	20871545	C	T	20871545	2	4	138	1	0	0	0	0	0	0	0	1	15756	796	28	3		3	TEP1	14	20871545	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		20871545	86477995	51	9300											
OSGEP	55644	broad.mit.edu	37	14	20917163	20917163	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:20917163C>T	uc001vxf.3	-	4	942	c.517G>A	c.(517-519)Gac>Aac	p.D173N		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	173					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GGACTTGGGTCGTTAGAAATC	0.448													T	20917163	C	T	20917163	3	4	138	1	0	0	0	0	1	0	0	0	11287	884	31	2	518	2	OSGEP	14	20917163	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	45618	20917163	86432377	52	9301											
PAPOLA	10914	broad.mit.edu	37	14	97022277	97022277	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:97022277C>G	uc001yfq.3	+	17	1975	c.1758C>G	c.(1756-1758)agC>agG	p.S586R	PAPOLA_uc001yfr.3_Missense_Mutation_p.S585R|PAPOLA_uc010twv.2_Missense_Mutation_p.S586R|PAPOLA_uc010avp.3_Missense_Mutation_p.S336R	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	586	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CCAGTGAAAGCTCAGGGGGTA	0.398													G	97022277	C	G	97022277	3	3	138	1	0	0	0	0	1	0	0	0	11429	796	28	5	1828	5	PAPOLA	14	97022277	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	76105114	97022277	10327263	53	9302											
AHNAK2	113146	broad.mit.edu	37	14	105417016	105417016	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:105417016A>T	uc010axc.1	-	6	4892	c.4772T>A	c.(4771-4773)cTc>cAc	p.L1591H	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L1491H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1591						nucleus				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)			GGGCCCCTTGAGGTCCACTTT	0.592													T	105417016	A	T	105417016	3	4	138	1	0	0	0	0	1	0	0	0	415	304	11	5	12619	5	AHNAK2	14	105417016	Missense_Mutation	SNP	A	TCGA-14-1450-01B-01D-1845-08	8394739	105417016	1932524	54	9303											
TJP1	7082	broad.mit.edu	37	15	30012191	30012192	+	Frame_Shift_Ins	INS	-	-	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr15:30012191_30012192insT	uc001zcr.3	-	19	3267_3268	c.2792_2793insA	c.(2791-2793)tacfs	p.Y931fs	TJP1_uc010azl.3_Frame_Shift_Ins_p.Y919fs|TJP1_uc001zcq.3_Intron|TJP1_uc001zcs.3_Intron	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	931					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAGGCGAAAGGTAAGGGACTGG	0.386													T	30012192	-	T	30012191	7	5	138	1	0	1	1	0	0	0	0	0	15926	1256	44	0	2489	0	TJP1	15	30012191	Frame_Shift_Ins	INS	-	TCGA-14-1450-01B-01D-1845-08		30012191	72519201	55	9304											
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr18:55992284_55992286delTCC	uc002lgy.3	+	8	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	194	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													-	55992286	TCC	-	55992284	7	5	138	1	0	1	0	1	0	0	0	0	10311	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-14-1450-01B-01D-1845-08		55992284	22084964	56	9305											
DAPK3	1613	broad.mit.edu	37	19	3959627	3959627	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:3959627C>T	uc002lzc.1	-	7	931	c.837G>A	c.(835-837)cgG>cgA	p.R279R	DAPK3_uc002lzb.1_Silent_p.R16R|DAPK3_uc002lzd.1_Silent_p.R279R	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	279					apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTCCGCCGCCGGATCGCCT	0.687													T	3959627	C	T	3959627	2	4	138	1	0	0	0	0	0	0	0	1	4237	726	26	3		3	DAPK3	19	3959627	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		3959627	55169356	57	9306											
UBXN6	80700	broad.mit.edu	37	19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:4454085delT	uc002man.2	-	1	186	c.89delA	c.(88-90)aagfs	p.K30fs	UBXN6_uc002mam.2_5'UTR	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	30						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667													-	4454085	T	-	4454085	7	5	138	1	0	1	0	1	0	0	0	0	16914	1609	56	0	1276	0	UBXN6	19	4454085	Frame_Shift_Del	DEL	T	TCGA-14-1450-01B-01D-1845-08	494458	4454085	54674898	58	9307											
KHSRP	8570	broad.mit.edu	37	19	6416419	6416419	+	Splice_Site	SNP	C	C	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:6416419C>A	uc002mer.4	-	15	1599	c.1489_splice	c.e15-1	p.G497_splice		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	497					mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AGAGAGGACCCTAGAAGGAAG	0.637													A	6416419	C	A	6416419	5	1	138	1	0	0	0	0	0	0	1	0	8151	695	24	5	671	5	KHSRP	19	6416419	Splice_Site	SNP	C	TCGA-14-1450-01B-01D-1845-08	1962334	6416419	52712564	59	9308											
TSPAN16	26526	broad.mit.edu	37	19	11417292	11417292	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:11417292G>A	uc002mqv.1	+	4	613	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	155						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAAGTGCTGTGGGGTGAATAA	0.438													A	11417292	G	A	11417292	3	1	138	1	0	0	0	0	1	0	0	0	16637	1348	47	3	481	3	TSPAN16	19	11417292	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	5000873	11417292	47711691	60	9309											
NOTCH3	4854	broad.mit.edu	37	19	15272328	15272328	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:15272328G>A	uc002nan.3	-	32	6187	c.6111C>T	c.(6109-6111)caC>caT	p.H2037H		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2037					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			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)			GCCCCAGGCCGTGGGGACCGG	0.706													A	15272328	G	A	15272328	2	1	138	1	0	0	0	0	0	0	0	1	10550	1136	40	1		1	NOTCH3	19	15272328	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	3855036	15272328	43856655	61	9310											
TSKS	60385	broad.mit.edu	37	19	50251361	50251361	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:50251361C>T	uc002ppm.3	-	3	571	c.560G>A	c.(559-561)gGg>gAg	p.G187E		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	187							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AATGCAGTACCCCTCCAACTC	0.567													T	50251361	C	T	50251361	3	4	138	1	0	0	0	0	1	0	0	0	16623	623	22	3	1250	3	TSKS	19	50251361	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	34979033	50251361	8877622	62	9311											
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr20:31022345C>T	uc021wbw.1	+	12	2262	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"F, N, Mis"		"MDS, CMML"								T	31022345	C	T	31022345	2	4	138	1	0	0	0	0	0	0	0	1	1066	755	27	1		1	ASXL1	20	31022345	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		31022345	32003175	63	9312											
C20orf152	140894	broad.mit.edu	37	20	34560629	34560629	+	Missense_Mutation	SNP	C	C	T	rs150690141	byFrequency	TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr20:34560629C>T	uc002xer.1	+	1	286	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	C20orf152_uc002xes.1_Missense_Mutation_p.R44W|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	44								p.R44R(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					CAGGGGATTCCGGGAATATCA	0.473													T	34560629	C	T	34560629	3	4	138	1	0	0	0	0	1	0	0	0	2092	643	23	2	136	2	C20orf152	20	34560629	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	3538284	34560629	28464891	64	9313											
TIAM1	7074	broad.mit.edu	37	21	32638854	32638854	+	Silent	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr21:32638854T>C	uc002yow.1	-	4	907	c.435A>G	c.(433-435)ggA>ggG	p.G145G	TIAM1_uc011adk.1_Silent_p.G145G|TIAM1_uc011adl.1_Silent_p.G145G|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	145					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCTCCTGCCTCCCTCAGCCA	0.547													C	32638854	T	C	32638854	2	2	138	1	0	0	0	0	0	0	0	1	15887	1538	54	4		4	TIAM1	21	32638854	Silent	SNP	T	TCGA-14-1450-01B-01D-1845-08		32638854	15491041	65	9314											
MAP3K15	389840	broad.mit.edu	37	X	19391804	19391804	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:19391804C>T	uc022btq.1	-	20	2783	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	MAP3K15_uc004czj.2_Missense_Mutation_p.R363H|MAP3K15_uc004czk.2_Missense_Mutation_p.R403H|MAP3K15_uc004czi.2_5'Flank	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	928							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GACGACACCGCGGGGACCTTC	0.677													T	19391804	C	T	19391804	3	4	138	1	0	0	0	0	1	0	0	0	9249	768	27	1	1194	1	MAP3K15	23	19391804	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		19391804	135878756	66	9315											
ZNF41	7592	broad.mit.edu	37	X	47307679	47307679	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:47307679C>T	uc004dhs.4	-	3	1683	c.1616G>A	c.(1615-1617)tGt>tAt	p.C539Y	ZNF41_uc004dhu.4_Missense_Mutation_p.C531Y|ZNF41_uc004dht.4_Missense_Mutation_p.C411Y|ZNF41_uc004dhv.4_Missense_Mutation_p.C507Y|ZNF41_uc004dhw.4_Missense_Mutation_p.C499Y|ZNF41_uc004dhy.4_Missense_Mutation_p.C497Y|ZNF41_uc004dhx.4_Missense_Mutation_p.C497Y|ZNF41_uc011mlm.2_Missense_Mutation_p.C411Y	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	539						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATTCTGTACATATATAGGG	0.428													T	47307679	C	T	47307679	3	4	138	1	0	0	0	0	1	0	0	0	17886	478	17	3	853	3	ZNF41	23	47307679	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	27915875	47307679	107962881	67	9316											
GSPT2	23708	broad.mit.edu	37	X	51487380	51487380	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:51487380G>A	uc004dpl.3	+	0	900	c.658G>A	c.(658-660)Gga>Aga	p.G220R		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	220					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GTCAACCATCGGAGGACAGAT	0.398													A	51487380	G	A	51487380	3	1	138	1	0	0	0	0	1	0	0	0	6827	1117	39	2	660	2	GSPT2	23	51487380	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	4179701	51487380	103783180	68	9317											
ODZ1	10178	broad.mit.edu	37	X	123518365	123518365	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:123518365C>T	uc010nqy.3	-	29	6480	c.6416G>A	c.(6415-6417)cGc>cAc	p.R2139H	ODZ1_uc011muj.2_Missense_Mutation_p.R2138H|ODZ1_uc004euj.3_Missense_Mutation_p.R2132H	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2132					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TATTACCATGCGGCCCACATT	0.393													T	123518365	C	T	123518365	3	4	138	1	0	0	0	0	1	0	0	0	10834	768	27	1	1794	1	ODZ1	23	123518365	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	72030985	123518365	31752195	69	9318											
ACTRT1	139741	broad.mit.edu	37	X	127185914	127185914	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:127185914T>G	uc004eum.3	-	0	469	c.272A>C	c.(271-273)cAt>cCt	p.H91P		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	91						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTCAAAGAGATGTTTCCAGAG	0.493													G	127185914	T	G	127185914	3	3	138	1	0	0	0	0	1	0	0	0	218	1464	51	5	862	5	ACTRT1	23	127185914	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	3667549	127185914	28084646	70	9319											
ARHGEF6	9459	broad.mit.edu	37	X	135754253	135754253	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:135754253T>A	uc004fab.3	-	19	2523	c.2061A>T	c.(2059-2061)caA>caT	p.Q687H	ARHGEF6_uc011mwd.2_Missense_Mutation_p.Q560H|ARHGEF6_uc011mwe.2_Missense_Mutation_p.Q533H	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	687					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GGAGTAGGACTTGTGGAATGG	0.458													A	135754253	T	A	135754253	3	1	138	1	0	0	0	0	1	0	0	0	910	1606	56	5	281	5	ARHGEF6	23	135754253	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	8568339	135754253	19516307	71	9320											
PNCK	139728	broad.mit.edu	37	X	152936012	152936012	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:152936012C>T	uc011myu.2	-	10	1367	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	PNCK_uc011myt.2_Missense_Mutation_p.R328Q|PNCK_uc004fhz.4_Missense_Mutation_p.R209Q	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	311						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCAGCTTCCGGATGTGGCG	0.687													T	152936012	C	T	152936012	3	4	138	1	0	0	0	0	1	0	0	0	12145	652	23	2	103	2	PNCK	23	152936012	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	17181759	152936012	2334548	72	9321											
CATSPER4	378807	broad.mit.edu	37	1	26524560	26524560	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:26524560T>G	uc010oez.2	+	4	670	c.670T>G	c.(670-672)Ttc>Gtc	p.F224V	CATSPER4_uc010oey.1_Missense_Mutation_p.F46V|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	224					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCTCTTCTTCATGCTGGT	0.597													G	26524560	T	G	26524560	3	3	139	1	0	0	0	0	1	0	0	0	2690	1609	56	5	688	5	CATSPER4	1	26524560	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08		26524560	222726061	1	9322											
SDCCAG8	10806	broad.mit.edu	37	1	243507526	243507526	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:243507526G>C	uc001hzw.3	+	11	1535	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	SDCCAG8_uc010pyk.2_Missense_Mutation_p.E311Q|SDCCAG8_uc010pyl.2_Missense_Mutation_p.E268Q|SDCCAG8_uc001hzx.3_Missense_Mutation_p.E268Q|MIR4677_uc021plt.1_5'Flank	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	456	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGTGTGTGGAGAAATGCGCTA	0.423													C	243507526	G	C	243507526	3	2	139	1	0	0	0	0	1	0	0	0	13959	943	33	5	1412	5	SDCCAG8	1	243507526	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	216982966	243507526	5743095	2	9323			1	27		2	2	49	G		4.961637e-05
SDCCAG8	10806	broad.mit.edu	37	1	243507574	243507574	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:243507574G>A	uc001hzw.3	+	11	1583	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	SDCCAG8_uc010pyk.2_Missense_Mutation_p.E327K|SDCCAG8_uc010pyl.2_Missense_Mutation_p.E284K|SDCCAG8_uc001hzx.3_Missense_Mutation_p.E284K|MIR4677_uc021plt.1_5'Flank	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	472	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGATGAGGCAGAAAAGGAGCA	0.393													A	243507574	G	A	243507574	3	1	139	1	0	0	0	0	1	0	0	0	13959	943	33	3	1460	3	SDCCAG8	1	243507574	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	48	243507574	5743047	3	9324			1	27		2	2	49	G		4.961637e-05
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	139	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		209113112	34086261	4	9325											
ALPPL2	251	broad.mit.edu	37	2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:233274433G>A	uc002vss.4	+	10	1503	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	484					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CATGGCCTTCGCCGCCTGCCT	0.751													A	233274433	G	A	233274433	3	1	139	1	0	0	0	0	1	0	0	0	549	1087	38	1	1492	1	ALPPL2	2	233274433	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	24161321	233274433	9924940	5	9326											
SPP2	6694	broad.mit.edu	37	2	234967503	234967503	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:234967503C>G	uc002vvk.1	+	2	319	c.234C>G	c.(232-234)aaC>aaG	p.N78K	SPP2_uc010fyl.1_5'UTR	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	78					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	p.N77D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ATGAGAACAACTTGGTCATGA	0.423													G	234967503	C	G	234967503	3	3	139	1	0	0	0	0	1	0	0	0	15086	564	20	5	244	5	SPP2	2	234967503	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	1693070	234967503	8231870	6	9327											
PER2	8864	broad.mit.edu	37	2	239157759	239157759	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:239157759G>A	uc002vyc.3	-	21	3799	c.3562C>T	c.(3562-3564)Cgc>Tgc	p.R1188C	PER2_uc010znv.1_Missense_Mutation_p.R1188C	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	1188	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			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)		TGGACCTCGCGCAGCTCCTGC	0.567													A	239157759	G	A	239157759	3	1	139	1	0	0	0	0	1	0	0	0	11730	1087	38	1	213	1	PER2	2	239157759	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	4190256	239157759	4041614	7	9328											
PIK3R1	5295	broad.mit.edu	37	5	67589147	67589147	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:67589147A>G	uc003jva.3	+	9	1715	c.1135A>G	c.(1135-1137)Aaa>Gaa	p.K379E	PIK3R1_uc003jvc.3_Missense_Mutation_p.K79E|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109E|PIK3R1_uc003jve.3_Missense_Mutation_p.K58E|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16E|PIK3R1_uc011crb.2_Missense_Mutation_p.K49E	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GGGAAATAACAAATTAATCAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67589147	A	G	67589147	3	3	139	1	0	0	0	0	1	0	0	0	11918	131	5	4	1299	4	PIK3R1	5	67589147	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08		67589147	113326113	8	9329											
ARSK	153642	broad.mit.edu	37	5	94936730	94936730	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:94936730T>C	uc003kld.3	+	6	1434	c.1276T>C	c.(1276-1278)Tat>Cat	p.Y426H	ARSK_uc010jbg.3_Missense_Mutation_p.Y267H|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	426						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CCACTGGAAATATATAGCCTA	0.368													C	94936730	T	C	94936730	3	2	139	1	0	0	0	0	1	0	0	0	996	1406	49	4	1302	4	ARSK	5	94936730	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08	27347583	94936730	85978530	9	9330											
MSH5	4439	broad.mit.edu	37	6	31729252	31729252	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:31729252G>A	uc003nwu.2	+	21	2172	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N	MSH5_uc003nwx.2_Missense_Mutation_p.D699N|MSH5_uc003nwv.2_Missense_Mutation_p.D681N|MSH5_uc003nww.2_Missense_Mutation_p.D681N|MSH5_uc011dof.1_Missense_Mutation_p.D380N|MSH5_uc003nwy.1_Missense_Mutation_p.D355N|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	681					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TTTGCAGGTGGATGGGCTCGC	0.577								Direct reversal of damage;Mismatch excision repair (MMR)					A	31729252	G	A	31729252	3	1	139	1	0	0	0	0	1	0	0	0	9873	1174	41	3	2177	3	MSH5	6	31729252	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08		31729252	139385815	10	9331											
CD2AP	23607	broad.mit.edu	37	6	47547178	47547178	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:47547178C>T	uc003oyw.3	+	8	1417	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	321	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			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)			AGGAGTATTTCCAGACAATTT	0.343													T	47547178	C	T	47547178	3	4	139	1	0	0	0	0	1	0	0	0	2994	855	30	3	995	3	CD2AP	6	47547178	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	15817926	47547178	123567889	11	9332											
EPHA7	2045	broad.mit.edu	37	6	94120318	94120318	+	Missense_Mutation	SNP	C	C	T	rs41273629	byFrequency	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:94120318C>T	uc003poe.3	-	2	974	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	EPHA7_uc003pof.3_Missense_Mutation_p.A245T|EPHA7_uc011eac.2_Missense_Mutation_p.A245T|EPHA7_uc003pog.4_Missense_Mutation_p.A245T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	245	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			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)		ATCCTGGGGGCGTTTTCCGCT	0.483													T	94120318	C	T	94120318	3	4	139	1	0	0	0	0	1	0	0	0	5172	768	27	1	2323	1	EPHA7	6	94120318	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	46573140	94120318	76994749	12	9333											
CCDC129	223075	broad.mit.edu	37	7	31614260	31614260	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:31614260T>A	uc011kae.2	+	6	592	c.580T>A	c.(580-582)Ttc>Atc	p.F194I	CCDC129_uc011kad.1_Missense_Mutation_p.F178I|CCDC129_uc003tcj.1_Missense_Mutation_p.F168I|CCDC129_uc003tci.1_Missense_Mutation_p.F167I|CCDC129_uc003tck.1_Missense_Mutation_p.F76I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	168										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCCAGCCAGATTCCTTGGTTG	0.478													A	31614260	T	A	31614260	3	1	139	1	0	0	0	0	1	0	0	0	2764	1493	52	5	524	5	CCDC129	7	31614260	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08		31614260	127524403	13	9334											
EGFR	1956	broad.mit.edu	37	7	55219021	55219021	+	Silent	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:55219021C>T	uc003tqk.3	+	4	840	c.594C>T	c.(592-594)agC>agT	p.S198S	EGFR_uc003tqh.3_Silent_p.S198S|EGFR_uc003tqi.3_Silent_p.S198S|EGFR_uc003tqj.3_Silent_p.S198S|EGFR_uc022adm.1_Silent_p.S198S|EGFR_uc010kzg.2_Silent_p.S153S|EGFR_uc022adn.1_Silent_p.S153S|EGFR_uc011kco.2_Silent_p.S145S|EGFR_uc003tql.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	198					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCAATGGGAGCTGCTGGGGTG	0.493		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55219021	C	T	55219021	2	4	139	1	0	0	0	0	0	0	0	1	4967	796	28	3		3	EGFR	7	55219021	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08	23604761	55219021	103919642	14	9335											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	139	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	2801	55221822	103916841	15	9336											
SULF1	23213	broad.mit.edu	37	8	70488235	70488235	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr8:70488235A>C	uc003xyg.2	+	4	764	c.203A>C	c.(202-204)aAg>aCg	p.K68T	SULF1_uc010lza.1_Missense_Mutation_p.K68T|SULF1_uc003xyd.2_Missense_Mutation_p.K68T|SULF1_uc003xye.2_Missense_Mutation_p.K68T|SULF1_uc003xyf.2_Missense_Mutation_p.K68T	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	68					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAAACGAGAAAGATTATGGAA	0.517													C	70488235	A	C	70488235	3	2	139	1	0	0	0	0	1	0	0	0	15369	72	3	5	209	5	SULF1	8	70488235	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08		70488235	75875787	16	9337											
ZNF251	90987	broad.mit.edu	37	8	145947815	145947815	+	Silent	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr8:145947815G>A	uc003zdv.4	-	4	1486	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGGCTCTGCCGCATTCATTAC	0.443													A	145947815	G	A	145947815	2	1	139	1	0	0	0	0	0	0	0	1	17793	1079	38	1		1	ZNF251	8	145947815	Silent	SNP	G	TCGA-14-1456-01B-01D-1494-08	75459580	145947815	416207	17	9338											
GABBR2	9568	broad.mit.edu	37	9	101052880	101052880	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr9:101052880C>G	uc004ays.3	-	18	3272	c.2812G>C	c.(2812-2814)Gtc>Ctc	p.V938L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	938					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.V938V(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGCCCGAGACCATGACTCGG	0.687													G	101052880	C	G	101052880	3	3	139	1	0	0	0	0	1	0	0	0	6156	507	18	5	17	5	GABBR2	9	101052880	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		101052880	40160551	18	9339											
FUT7	2529	broad.mit.edu	37	9	139925805	139925805	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr9:139925805C>T	uc004ckq.2	-	1	1235	c.386G>A	c.(385-387)gGc>gAc	p.G129D	ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	Homo sapiens fucosyltransferase 7 (alpha (1,3) fucosyltransferase) (FUT7), mRNA.	129					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GTGGCTGAGGCCGTGGGTGTG	0.711													T	139925805	C	T	139925805	3	4	139	1	0	0	0	0	1	0	0	0	6109	739	26	3	646	3	FUT7	9	139925805	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	38872925	139925805	1287626	19	9340											
OGDHL	55753	broad.mit.edu	37	10	50959004	50959004	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr10:50959004C>A	uc009xog.3	-	5	892	c.858G>T	c.(856-858)tgG>tgT	p.W286C	OGDHL_uc001jie.3_Missense_Mutation_p.W259C|OGDHL_uc010qgt.2_Missense_Mutation_p.W202C|OGDHL_uc010qgu.2_Missense_Mutation_p.W50C|OGDHL_uc009xoh.2_Missense_Mutation_p.W50C	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	259					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			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						TCTCTGAGGACCATTTCCGGG	0.562													A	50959004	C	A	50959004	3	1	139	1	0	0	0	0	1	0	0	0	10840	508	18	5	2323	5	OGDHL	10	50959004	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		50959004	84575743	20	9341											
CYSLTR2	57105	broad.mit.edu	37	13	49280992	49280992	+	Silent	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr13:49280992C>T	uc010acw.1	+	1	329	c.39C>T	c.(37-39)tcC>tcT	p.S13S	CYSLTR2_uc010acx.1_Silent_p.S13S|CYSLTR2_uc010acy.1_Silent_p.S13S|CYSLTR2_uc010acz.1_Silent_p.S13S|CYSLTR2_uc010ada.1_Silent_p.S13S|CYSLTR2_uc010adb.1_Silent_p.S13S|CYSLTR2_uc010adc.1_Silent_p.S13S|CYSLTR2_uc010add.1_Silent_p.S13S|CYSLTR2_uc001vck.2_Silent_p.S13S|CYSLTR2_uc021rjl.1_Silent_p.S13S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	13					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CATCCATCTCCGTATCAGAAA	0.373													T	49280992	C	T	49280992	2	4	139	1	0	0	0	0	0	0	0	1	4202	639	23	2		2	CYSLTR2	13	49280992	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08		49280992	65888886	21	9342											
SLC27A2	11001	broad.mit.edu	37	15	50515253	50515253	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr15:50515253A>G	uc001zxw.3	+	4	1296	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	SLC27A2_uc010bes.3_Missense_Mutation_p.D302G|SLC27A2_uc001zxx.3_Missense_Mutation_p.D120G	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	355					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGATTTGGGGACATATGCATC	0.428													G	50515253	A	G	50515253	3	3	139	1	0	0	0	0	1	0	0	0	14526	275	10	4	1082	4	SLC27A2	15	50515253	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08		50515253	52016139	22	9343											
SEC11A	23478	broad.mit.edu	37	15	85234816	85234816	+	Silent	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr15:85234816C>T	uc002blb.1	-	1	479	c.111G>A	c.(109-111)aaG>aaA	p.K37K	SEC11A_uc002blc.1_Silent_p.K11K	NM_014300	NP_055115	P67812	SC11A_HUMAN	Homo sapiens SEC11 homolog A (S. cerevisiae) (SEC11A), mRNA.	37					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CCATTAACCCCTTCCAGATCA	0.408													T	85234816	C	T	85234816	2	4	139	1	0	0	0	0	0	0	0	1	13978	680	24	3		3	SEC11A	15	85234816	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08	34719563	85234816	17296576	23	9344											
C16orf54	283897	broad.mit.edu	37	16	29755735	29755735	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr16:29755735C>T	uc002dtp.2	-	1	647	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	180						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCAAACTGGACGCTGGCCTCT	0.711													T	29755735	C	T	29755735	3	4	139	1	0	0	0	0	1	0	0	0	1819	536	19	1	140	1	C16orf54	16	29755735	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		29755735	60599018	24	9345											
PKD1L2	114780	broad.mit.edu	37	16	81211460	81211460	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr16:81211460C>T	uc002fgh.1	-	13	2389	c.2389G>A	c.(2389-2391)Gcc>Acc	p.A797T	PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Missense_Mutation_p.A112T|PKD1L2_uc002fgj.3_Missense_Mutation_p.A797T|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	797	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			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						GCTGTGGAGGCGTTGCAGAAG	0.592													T	81211460	C	T	81211460	3	4	139	1	0	0	0	0	1	0	0	0	11965	768	27	1	5179	1	PKD1L2	16	81211460	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	51455725	81211460	9143293	25	9346											
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			C	7578190	T	C	7578190	3	2	139	1	0	0	0	0	1	0	0	0	16378	1406	49	4	635	4	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08		7578190	73617020	26	9347											
KCTD2	23510	broad.mit.edu	37	17	73043590	73043590	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:73043590A>G	uc002jmp.3	+	0	312	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.3_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.3_Non-coding_Transcript	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	82	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GGAGGCACCTACTTCGTGACC	0.711													G	73043590	A	G	73043590	3	3	139	1	0	0	0	0	1	0	0	0	8107	391	14	4	247	4	KCTD2	17	73043590	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08	65465400	73043590	8151620	27	9348											
CHD6	84181	broad.mit.edu	37	20	40049780	40049780	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr20:40049780C>T	uc002xka.1	-	30	5673	c.5495G>A	c.(5494-5496)tGt>tAt	p.C1832Y		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1832					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGGAGTCACAGACACTAAG	0.388													T	40049780	C	T	40049780	3	4	139	1	0	0	0	0	1	0	0	0	3329	478	17	3	2680	3	CHD6	20	40049780	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		40049780	22975740	28	9349											
PREX1	57580	broad.mit.edu	37	20	47267957	47267957	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr20:47267957C>T	uc002xtw.1	-	21	2655	c.2632G>A	c.(2632-2634)Ggc>Agc	p.G878S	PREX1_uc002xtv.1_Missense_Mutation_p.G175S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	878					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.R877R(1)|p.R877L(1)		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)			CCGAAGCAGCCGCGGGGCTCC	0.607													T	47267957	C	T	47267957	3	4	139	1	0	0	0	0	1	0	0	0	12476	652	23	2	2423	2	PREX1	20	47267957	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	7218177	47267957	15757563	29	9350											
FOXR2	139628	broad.mit.edu	37	X	55650997	55650997	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:55650997C>T	uc004duo.3	+	0	1165	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	285					embryo development|organ development|pattern specification process|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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GGAGGAGACTCGTGTCTTAGC	0.502													T	55650997	C	T	55650997	3	4	139	1	0	0	0	0	1	0	0	0	6032	884	31	2	855	2	FOXR2	23	55650997	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		55650997	99619563	30	9351											
ATRX	546	broad.mit.edu	37	X	76872118	76872118	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:76872118C>G	uc004ecp.4	-	21	5761	c.5529G>C	c.(5527-5529)caG>caC	p.Q1843H	ATRX_uc004ecq.4_Missense_Mutation_p.Q1805H|ATRX_uc004eco.4_Missense_Mutation_p.Q1628H	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1843					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGAGCTTGCACTGAATAGAAG	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76872118	C	G	76872118	3	3	139	1	0	0	0	0	1	0	0	0	1208	564	20	5	2005	5	ATRX	23	76872118	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	21221121	76872118	78398442	31	9352											
TBX22	50945	broad.mit.edu	37	X	79282295	79282295	+	Silent	SNP	C	C	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:79282295C>A	uc010nmg.1	+	5	860	c.726C>A	c.(724-726)ccC>ccA	p.P242P	TBX22_uc004edi.1_Silent_p.P122P|TBX22_uc004edj.1_Silent_p.P242P	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	242					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTCCTTGCCCACTGAAGGTG	0.463													A	79282295	C	A	79282295	2	1	139	1	0	0	0	0	0	0	0	1	15655	581	21	5		5	TBX22	23	79282295	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08	2410177	79282295	75988265	32	9353											
LOC440563	440563	broad.mit.edu	37	1	13183032	13183032	+	Missense_Mutation	SNP	C	C	T	rs55971446	by1000genomes	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:13183032C>T	uc010obg.2	-	1	1084	c.841G>A	c.(841-843)Gag>Aag	p.E281K		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	281						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CTGTTATCCTCTCCTTCCTCA	0.443													T	13183032	C	T	13183032	3	4	140	1	0	0	0	0	1	0	0	0	8879	922	32	3	44	3	LOC440563	1	13183032	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08		13183032	236067589	1	9354											
PADI6	353238	broad.mit.edu	37	1	17721458	17721458	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:17721458G>A	uc001bak.1	+	12	1349	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	442					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			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)	GCAGAGGGCCGGGCCATGAGT	0.602													A	17721458	G	A	17721458	3	1	140	1	0	0	0	0	1	0	0	0	11381	1116	39	2	1396	2	PADI6	1	17721458	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	4538426	17721458	231529163	2	9355											
KIAA0090	23065	broad.mit.edu	37	1	19546124	19546124	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:19546124T>C	uc001bbo.3	-	21	2784	c.2741A>G	c.(2740-2742)cAg>cGg	p.Q914R	KIAA0090_uc001bbn.3_Non-coding_Transcript|KIAA0090_uc001bbp.3_Missense_Mutation_p.Q913R|KIAA0090_uc001bbq.3_Missense_Mutation_p.Q913R|KIAA0090_uc001bbr.3_Missense_Mutation_p.Q892R	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	914	DUF1620.					integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		AGAAACTGTCTGGTTATAGTT	0.507													C	19546124	T	C	19546124	3	2	140	1	0	0	0	0	1	0	0	0	8153	1580	55	4	248	4	KIAA0090	1	19546124	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08	1824666	19546124	229704497	3	9356											
KIF17	57576	broad.mit.edu	37	1	20992723	20992723	+	Silent	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:20992723G>A	uc001bdr.4	-	13	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	KIF17_uc001bdp.4_Silent_p.D242D|KIF17_uc009vpx.3_Silent_p.D335D|KIF17_uc001bds.4_Silent_p.D964D	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	965					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCTGGCGTCTGTGCTGA	0.577													A	20992723	G	A	20992723	2	1	140	1	0	0	0	0	0	0	0	1	8279	1136	40	1		1	KIF17	1	20992723	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08	1446599	20992723	228257898	4	9357											
NR0B2	8431	broad.mit.edu	37	1	27240176	27240176	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:27240176G>A	uc001bnf.3	-	0	392	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	86	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGCAGCCGCCGCTGGTCC	0.642													A	27240176	G	A	27240176	3	1	140	1	0	0	0	0	1	0	0	0	10614	1086	38	1	525	1	NR0B2	1	27240176	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	6247453	27240176	222010445	5	9358											
TNR	7143	broad.mit.edu	37	1	175372637	175372637	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:175372637C>T	uc001gkp.1	-	1	696	c.615G>A	c.(613-615)ccG>ccA	p.P205P	TNR_uc009wwu.1_Silent_p.P205P|TNR_uc010pmz.1_Silent_p.P205P	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	205	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCAACCCAGCGGGCAGTAGG	0.597													T	175372637	C	T	175372637	2	4	140	1	0	0	0	0	0	0	0	1	16335	755	27	1		1	TNR	1	175372637	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	148132461	175372637	73877984	6	9359											
CFH	10877	broad.mit.edu	37	1	196871608	196871608	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:196871608G>A	uc001gtp.3	+	1	256	c.119G>A	c.(118-120)cGt>cAt	p.R40H	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.R39H|CFH_uc001gto.3_Missense_Mutation_p.R40H	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	341	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAGAGTTTGCGTAGACTATAC	0.323													A	196871608	G	A	196871608	3	1	140	1	0	0	0	0	1	0	0	0	3283	1145	40	1		1	CFH	1	196871608	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	21498971	196871608	52379013	7	9360											
RGPD3	653489	broad.mit.edu	37	2	107049596	107049596	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:107049596G>C	uc010ywi.1	-	15	2408	c.2351C>G	c.(2350-2352)aCc>aGc	p.T784S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	784					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGAATATTTGGTAGGAGATGG	0.338													C	107049596	G	C	107049596	3	2	140	1	0	0	0	0	1	0	0	0	13287	1261	44	5	2957	5	RGPD3	2	107049596	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		107049596	136149777	8	9361											
CNTNAP5	129684	broad.mit.edu	37	2	125405459	125405459	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:125405459C>T	uc010flu.3	+	12	2365	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	CNTNAP5_uc002tno.3_Silent_p.A666A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	666	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCTGGAGGCCGTGATCGACG	0.622													T	125405459	C	T	125405459	2	4	140	1	0	0	0	0	0	0	0	1	3650	639	23	2		2	CNTNAP5	2	125405459	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	18355863	125405459	117793914	9	9362											
THSD7B	80731	broad.mit.edu	37	2	138033556	138033556	+	Silent	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:138033556G>A	uc002tva.1	+	10	2367	c.2367G>A	c.(2365-2367)acG>acA	p.T789T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.T679T	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGGAATAACGGGCAGCAGTG	0.398													A	138033556	G	A	138033556	2	1	140	1	0	0	0	0	0	0	0	1	15877	1103	39	2		2	THSD7B	2	138033556	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08	12628097	138033556	105165817	10	9363											
NEB	4703	broad.mit.edu	37	2	152425820	152425820	+	Missense_Mutation	SNP	C	C	T	rs149881695	by1000genomes	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:152425820C>T	uc021vrb.1	-	80	12423	c.12394G>A	c.(12394-12396)Gtc>Atc	p.V4132I	NEB_uc002txr.3_Missense_Mutation_p.V598I|NEB_uc002txu.3_Missense_Mutation_p.V5833I|NEB_uc021vrc.1_Missense_Mutation_p.V5833I|NEB_uc010fnx.3_Missense_Mutation_p.V4120I|NEB_uc021vrd.1_Missense_Mutation_p.V4132I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4132					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCATGATTGACGGACACGGAG	0.458													T	152425820	C	T	152425820	3	4	140	1	0	0	0	0	1	0	0	0	10302	536	19	1	8481	1	NEB	2	152425820	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	14392264	152425820	90773553	11	9364											
COBLL1	22837	broad.mit.edu	37	2	165551266	165551266	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:165551266T>C	uc002ucp.3	-	11	2972	c.2750A>G	c.(2749-2751)tAt>tGt	p.Y917C	COBLL1_uc002ucq.3_Missense_Mutation_p.Y879C|COBLL1_uc010zcw.2_Missense_Mutation_p.Y984C|COBLL1_uc010zcx.2_Missense_Mutation_p.Y925C|COBLL1_uc002ucn.3_Missense_Mutation_p.Y345C|COBLL1_uc002uco.3_Missense_Mutation_p.Y648C	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	955										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGATGTCACATAGTGACCCGA	0.448													C	165551266	T	C	165551266	3	2	140	1	0	0	0	0	1	0	0	0	3654	1406	49	4	762	4	COBLL1	2	165551266	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08	13125446	165551266	77648107	12	9365											
TTN	7273	broad.mit.edu	37	2	179454479	179454479	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:179454479G>A	uc021vsy.1	-	252	54494	c.54269C>T	c.(54268-54270)aCt>aTt	p.T18090I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T11785I|TTN_uc021vta.1_Missense_Mutation_p.T11718I|TTN_uc021vtb.1_Missense_Mutation_p.T11593I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19017	Fibronectin type-III 31.						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)			CAGAATGGGAGTTTTTGTTTC	0.413													A	179454479	G	A	179454479	3	1	140	1	0	0	0	0	1	0	0	0	16732	1029	36	3	46242	3	TTN	2	179454479	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	13903213	179454479	63744894	13	9366											
CCDC141	285025	broad.mit.edu	37	2	179730518	179730518	+	Silent	SNP	G	G	A	rs144206841		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:179730518G>A	uc002une.2	-	16	2818	c.2700C>T	c.(2698-2700)tgC>tgT	p.C900C	CCDC141_uc002unf.1_Silent_p.C379C	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	325							protein binding			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)			CTCTCATGGCGCAGTACTCCA	0.532													A	179730518	G	A	179730518	2	1	140	1	0	0	0	0	0	0	0	1	2775	1079	38	1		1	CCDC141	2	179730518	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08	276039	179730518	63468855	14	9367											
NEU2	4759	broad.mit.edu	37	2	233899574	233899574	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:233899574C>T	uc010zmn.2	+	1	950	c.950C>T	c.(949-951)gCc>gTc	p.A317V		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	317							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGACCTCCAGCCCCTGAGGCC	0.672													T	233899574	C	T	233899574	3	4	140	1	0	0	0	0	1	0	0	0	10342	739	26	3	956	3	NEU2	2	233899574	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	54169056	233899574	9299799	15	9368											
ANO7	50636	broad.mit.edu	37	2	242149970	242149970	+	Missense_Mutation	SNP	G	G	A	rs148576854		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:242149970G>A	uc002wax.2	+	14	1811	c.1708G>A	c.(1708-1710)Gtc>Atc	p.V570I		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	570						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGCCCACGTCCTGACACG	0.622													A	242149970	G	A	242149970	3	1	140	1	0	0	0	0	1	0	0	0	702	1145	40	1	1838	1	ANO7	2	242149970	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	8250396	242149970	1049403	16	9369											
OGG1	4968	broad.mit.edu	37	3	9798237	9798237	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:9798237G>A	uc003bsi.3	+	4	1173	c.830G>A	c.(829-831)cGt>cAt	p.R277H	OGG1_uc003bsj.3_Missense_Mutation_p.R277H|OGG1_uc003bsh.3_Missense_Mutation_p.R277H|OGG1_uc003bsl.3_Missense_Mutation_p.R277H|OGG1_uc003bsk.3_Missense_Mutation_p.R277H|OGG1_uc003bsm.3_Missense_Mutation_p.R277H|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Missense_Mutation_p.R42H|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Missense_Mutation_p.R42H	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	277					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATTGCCCAACGTGACTACAGC	0.602								Base excision repair (BER), DNA glycosylases					A	9798237	G	A	9798237	3	1	140	1	0	0	0	0	1	0	0	0	10845	1145	40	1	848	1	OGG1	3	9798237	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		9798237	188224193	17	9370											
NKIRAS1	28512	broad.mit.edu	37	3	23942514	23942514	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:23942514C>A	uc003ccj.3	-	3	523	c.121G>T	c.(121-123)Gat>Tat	p.D41Y	NKIRAS1_uc003cck.3_Missense_Mutation_p.D41Y	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.	41					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						ATGTATACATCTTCCATTGTT	0.413													A	23942514	C	A	23942514	3	1	140	1	0	0	0	0	1	0	0	0	10444	913	32	5	465	5	NKIRAS1	3	23942514	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	14144277	23942514	174079916	18	9371											
ACTR8	93973	broad.mit.edu	37	3	53909976	53909976	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:53909976G>A	uc003dhd.3	-	7	1012	c.911_splice	c.e7+1	p.R304_splice	ACTR8_uc003dhb.3_Splice_Site_p.R54_splice|ACTR8_uc003dhc.3_Splice_Site_p.R193_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	304					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GTTCCTTACCGAGTATTCCGA	0.433													A	53909976	G	A	53909976	3	1	140	1	0	0	0	0	1	0	0	0	217	1072	37	2	992	2	ACTR8	3	53909976	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	29967462	53909976	144112454	19	9372											
EPHA6	285220	broad.mit.edu	37	3	97167503	97167503	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:97167503A>T	uc010how.1	+	6	1866	c.1823A>T	c.(1822-1824)cAc>cTc	p.H608L	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	513						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATGTATTTCACATCCGAGTG	0.448													T	97167503	A	T	97167503	3	4	140	1	0	0	0	0	1	0	0	0	5171	159	6	5	1849	5	EPHA6	3	97167503	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	43257527	97167503	100854927	20	9373											
MORC1	27136	broad.mit.edu	37	3	108698509	108698509	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:108698509A>T	uc003dxl.3	-	23	2417	c.2330T>A	c.(2329-2331)cTc>cAc	p.L777H	MORC1_uc011bhn.2_Missense_Mutation_p.L756H	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	777					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CGGCACATTGAGCAAGCTGAG	0.368													T	108698509	A	T	108698509	3	4	140	1	0	0	0	0	1	0	0	0	9701	304	11	5	644	5	MORC1	3	108698509	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	11531006	108698509	89323921	21	9374											
UGT2A3	79799	broad.mit.edu	37	4	69796959	69796959	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr4:69796959A>C	uc003hef.2	-	4	1028	c.997_splice	c.e4-1	p.V333_splice	UGT2A3_uc010ihp.1_Splice_Site	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	333						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTCCATAACACCTACGGAAG	0.373													C	69796959	A	C	69796959	3	2	140	1	0	0	0	0	1	0	0	0	16952	173	6	5	597	5	UGT2A3	4	69796959	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		69796959	121357317	22	9375											
DDX60	55601	broad.mit.edu	37	4	169196591	169196591	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr4:169196591G>A	uc003irp.3	-	15	2501	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	737							ATP binding|ATP-dependent helicase activity|RNA binding	p.R737W(3)|p.R737Q(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTGGAACCGAGCTGGCCCA	0.393													A	169196591	G	A	169196591	3	1	140	1	0	0	0	0	1	0	0	0	4378	1057	37	2	3021	2	DDX60	4	169196591	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	99399632	169196591	21957685	23	9376											
KCNQ5	56479	broad.mit.edu	37	6	73713705	73713705	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:73713705G>T	uc011dyh.2	+	1	820	c.473G>T	c.(472-474)aGt>aTt	p.S158I	KCNQ5_uc003pgj.4_Missense_Mutation_p.S158I|KCNQ5_uc011dyi.2_Missense_Mutation_p.S158I|KCNQ5_uc010kat.3_Missense_Mutation_p.S158I|KCNQ5_uc003pgk.3_Missense_Mutation_p.S158I|KCNQ5_uc011dyj.2_Missense_Mutation_p.S158I|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	158					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTGGCCTCAAGTTGCCTCTTG	0.358													T	73713705	G	T	73713705	3	4	140	1	0	0	0	0	1	0	0	0	8086	1029	36	5	479	5	KCNQ5	6	73713705	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		73713705	97401362	24	9377											
COL12A1	1303	broad.mit.edu	37	6	75858174	75858174	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:75858174C>T	uc021zbv.1	-	20	4222	c.4187G>A	c.(4186-4188)cGa>cAa	p.R1396Q	COL12A1_uc021zbw.1_Missense_Mutation_p.R232Q|COL12A1_uc003phs.3_Missense_Mutation_p.R1396Q|COL12A1_uc003pht.3_Missense_Mutation_p.R232Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1396	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACGATGGGTTCGCTCAGAAAT	0.398													T	75858174	C	T	75858174	3	4	140	1	0	0	0	0	1	0	0	0	3669	884	31	2	5184	2	COL12A1	6	75858174	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	2144469	75858174	95256893	25	9378											
BVES	11149	broad.mit.edu	37	6	105573416	105573416	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:105573416C>T	uc003pqw.3	-	3	546	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	BVES_uc003pqx.3_Missense_Mutation_p.R130Q|BVES_uc003pqy.3_Missense_Mutation_p.R130Q	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	130					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTCAAACAATCGCCGGTACAT	0.443													T	105573416	C	T	105573416	3	4	140	1	0	0	0	0	1	0	0	0	1575	884	31	2	713	2	BVES	6	105573416	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	29715242	105573416	65541651	26	9379											
T	6862	broad.mit.edu	37	6	166571970	166571970	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:166571970C>T	uc003qut.1	-	7	1430	c.1144G>A	c.(1144-1146)Gcg>Acg	p.A382T	T_uc003quu.1_Missense_Mutation_p.A381T|T_uc003quv.1_Missense_Mutation_p.A323T	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	381					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.A381T(2)|p.A381E(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTGTAGTGCGCGGGGGAGCCC	0.711									Chordoma, Familial Clustering of				T	166571970	C	T	166571970	3	4	140	1	0	0	0	0	1	0	0	0	15485	768	27	1	170	1	T	6	166571970	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	60998554	166571970	4543097	27	9380											
FERD3L	222894	broad.mit.edu	37	7	19184907	19184907	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:19184907G>A	uc003suo.1	-	0	138	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	27					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AGGAGAGGGCGTCTCGGGGAG	0.677													A	19184907	G	A	19184907	3	1	140	1	0	0	0	0	1	0	0	0	5816	1145	40	1	425	1	FERD3L	7	19184907	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		19184907	139953756	28	9381											
UPP1	7378	broad.mit.edu	37	7	48139333	48139333	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:48139333C>A	uc003toj.3	+	4	640	c.111C>A	c.(109-111)ttC>ttA	p.F37L	UPP1_uc003tok.3_Missense_Mutation_p.F37L|UPP1_uc003tol.3_Missense_Mutation_p.F37L|UPP1_uc011kcg.1_Missense_Mutation_p.F37L|UPP1_uc011kch.2_Intron|UPP1_uc003ton.3_Intron	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	37					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TCTATCATTTCAATCTCACCA	0.393													A	48139333	C	A	48139333	3	1	140	1	0	0	0	0	1	0	0	0	17009	825	29	5	117	5	UPP1	7	48139333	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	28954426	48139333	110999330	29	9382											
UPP1	7378	broad.mit.edu	37	7	48146585	48146585	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:48146585G>T	uc003toj.3	+	7	1081	c.552G>T	c.(550-552)aaG>aaT	p.K184N	UPP1_uc003tok.3_Missense_Mutation_p.K184N|UPP1_uc003tol.3_Missense_Mutation_p.K184N|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_Missense_Mutation_p.K47N	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	184					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						ACCTTAACAAGAAGCTGGTGC	0.537													T	48146585	G	T	48146585	3	4	140	1	0	0	0	0	1	0	0	0	17009	933	33	5	570	5	UPP1	7	48146585	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	7252	48146585	110992078	30	9383											
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221821	G	A	55221821	3	1	140	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	7075236	55221821	103916842	31	9384											
FZD1	8321	broad.mit.edu	37	7	90894669	90894669	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:90894669A>T	uc003ula.3	+	0	887	c.474A>T	c.(472-474)aaA>aaT	p.K158N		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	158	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTCTAGTGAAAGTGCAGTGTT	0.632													T	90894669	A	T	90894669	3	4	140	1	0	0	0	0	1	0	0	0	6128	69	3	5	476	5	FZD1	7	90894669	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	35672848	90894669	68243994	32	9385											
MUC17	140453	broad.mit.edu	37	7	100685376	100685376	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:100685376C>G	uc003uxp.1	+	2	10732	c.10679C>G	c.(10678-10680)aCt>aGt	p.T3560S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3560	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					TCTCCAGCAACTCTTCAGGTC	0.478													G	100685376	C	G	100685376	3	3	140	1	0	0	0	0	1	0	0	0	9974	565	20	5	10689	5	MUC17	7	100685376	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	9790707	100685376	58453287	33	9386											
DGKI	9162	broad.mit.edu	37	7	137263039	137263039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:137263039G>A	uc003vtt.3	-	15	1676	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	DGKI_uc003vtu.3_Nonsense_Mutation_p.R259*	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R559*(3)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338													A	137263039	G	A	137263039	4	1	140	1	0	0	0	0	0	1	0	0	4471	1066	37	2	1598	2	DGKI	7	137263039	Nonsense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	36577663	137263039	21875624	34	9387											
PSD3	23362	broad.mit.edu	37	8	18432725	18432725	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:18432725A>G	uc003wza.3	-	12	2655	c.2552T>C	c.(2551-2553)tTg>tCg	p.L851S	PSD3_uc003wyx.4_Missense_Mutation_p.L180S|PSD3_uc003wyy.3_Missense_Mutation_p.L317S|PSD3_uc003wyz.3_Missense_Mutation_p.L152S	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	852	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTTGGATGCCAATGCGTGGTG	0.428													G	18432725	A	G	18432725	3	3	140	1	0	0	0	0	1	0	0	0	12648	131	5	4	607	4	PSD3	8	18432725	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		18432725	127931297	35	9388											
LGI3	203190	broad.mit.edu	37	8	22006477	22006477	+	Silent	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:22006477C>A	uc003xav.3	-	7	1132	c.843G>T	c.(841-843)gtG>gtT	p.V281V	LGI3_uc010ltu.3_Silent_p.V257V	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	281					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCTTGCAGTGCACTGCAGAGG	0.627													A	22006477	C	A	22006477	2	1	140	1	0	0	0	0	0	0	0	1	8753	697	25	5		5	LGI3	8	22006477	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	3573752	22006477	124357545	36	9389											
SNAI2	6591	broad.mit.edu	37	8	49831516	49831516	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:49831516G>T	uc003xqp.3	-	2	832	c.657C>A	c.(655-657)aaC>aaA	p.N219K		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	219					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAAATGCTCTGTTGCAGTGAG	0.433													T	49831516	G	T	49831516	3	4	140	1	0	0	0	0	1	0	0	0	14827	1368	48	5	153	5	SNAI2	8	49831516	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	27825039	49831516	96532506	37	9390											
ZFHX4	79776	broad.mit.edu	37	8	77763369	77763369	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:77763369G>C	uc003yau.2	+	9	4599	c.4212G>C	c.(4210-4212)ttG>ttC	p.L1404F	ZFHX4_uc003yaw.1_Missense_Mutation_p.L1359F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1359						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			ATTGTAGCTTGGCTTTCAAAA	0.453										HNSCC(33;0.089)			C	77763369	G	C	77763369	3	2	140	1	0	0	0	0	1	0	0	0	17632	1339	47	5	4246	5	ZFHX4	8	77763369	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	27931853	77763369	68600653	38	9391											
LRP12	29967	broad.mit.edu	37	8	105503293	105503293	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:105503293G>C	uc003yma.3	-	6	2315	c.2188C>G	c.(2188-2190)Ctc>Gtc	p.L730V	LRP12_uc003ymb.3_Missense_Mutation_p.L711V|LRP12_uc003ylz.3_Missense_Mutation_p.L136V	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	730					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			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)			ATACGACTGAGTGCACTTGTA	0.493													C	105503293	G	C	105503293	3	2	140	1	0	0	0	0	1	0	0	0	8954	1029	36	5	395	5	LRP12	8	105503293	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	27739924	105503293	40860729	39	9392											
NFX1	4799	broad.mit.edu	37	9	33351731	33351731	+	Silent	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:33351731G>A	uc003zsr.3	+	15	2754	c.2601G>A	c.(2599-2601)ccG>ccA	p.P867P	NFX1_uc003zsp.2_Silent_p.P866P|NFX1_uc010mjr.2_Silent_p.P867P|NFX1_uc003zsq.3_Silent_p.P866P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	866					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTGGTCACCCGTGTATGGCAC	0.552													A	33351731	G	A	33351731	2	1	140	1	0	0	0	0	0	0	0	1	10387	1132	40	1		1	NFX1	9	33351731	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08		33351731	107861700	40	9393											
VPS13A	23230	broad.mit.edu	37	9	79867155	79867155	+	Silent	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:79867155T>C	uc004akr.3	+	21	2435	c.2175T>C	c.(2173-2175)gaT>gaC	p.D725D	VPS13A_uc004akp.4_Silent_p.D725D|VPS13A_uc004akq.4_Silent_p.D725D|VPS13A_uc004aks.3_Silent_p.D725D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	725					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTTAGGTGATAATTGGAGAG	0.343													C	79867155	T	C	79867155	2	2	140	1	0	0	0	0	0	0	0	1	17186	1403	49	4		4	VPS13A	9	79867155	Silent	SNP	T	TCGA-14-1823-01A-01W-0643-08	46515424	79867155	61346276	41	9394											
NUP214	8021	broad.mit.edu	37	9	134022964	134022964	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:134022964C>G	uc004cag.3	+	13	2144	c.2033C>G	c.(2032-2034)tCt>tGt	p.S678C	NUP214_uc004cah.3_Missense_Mutation_p.S668C|NUP214_uc004cai.3_Missense_Mutation_p.S108C|NUP214_uc004caf.1_Missense_Mutation_p.S667C|NUP214_uc010mzf.3_Intron	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	678	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAGCCAGGCTCTCCCCAGGTA	0.433			T	"DEK, SET, ABL1"	"AML, T-ALL"								G	134022964	C	G	134022964	3	3	140	1	0	0	0	0	1	0	0	0	10762	913	32	5	2087	5	NUP214	9	134022964	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	54155809	134022964	7190467	42	9395											
NAALADL1	10004	broad.mit.edu	37	11	64825878	64825878	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr11:64825878T>A	uc001ocn.3	-	0	132	c.116A>T	c.(115-117)gAc>gTc	p.D39V	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	39					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGGTCCAGGTCCTGGGGGGC	0.637													A	64825878	T	A	64825878	3	1	140	1	0	0	0	0	1	0	0	0	10129	1667	58	5	2178	5	NAALADL1	11	64825878	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08		64825878	70180638	43	9396											
SART1	9092	broad.mit.edu	37	11	65743897	65743897	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr11:65743897G>A	uc001ogl.3	+	12	1696	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	535					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTGGAGTCTCGCCAGCGGGGC	0.637													A	65743897	G	A	65743897	3	1	140	1	0	0	0	0	1	0	0	0	13846	1087	38	1	1654	1	SART1	11	65743897	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	918019	65743897	69262619	44	9397											
SLC38A1	81539	broad.mit.edu	37	12	46594885	46594885	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:46594885G>C	uc009zkj.1	-	12	1684	c.999C>G	c.(997-999)ttC>ttG	p.F333L	SLC38A1_uc001rpb.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpc.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpd.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpe.3_Missense_Mutation_p.F333L|SLC38A1_uc010slh.2_Missense_Mutation_p.F306L|SLC38A1_uc001rpa.3_Missense_Mutation_p.F333L	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	333					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACTTACCATAGAATGTCAAGT	0.299													C	46594885	G	C	46594885	3	2	140	1	0	0	0	0	1	0	0	0	14601	933	33	5	484	5	SLC38A1	12	46594885	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		46594885	87257010	45	9398											
OR6C6	283365	broad.mit.edu	37	12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:55688832C>T	uc010sph.2	-	0	185	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L61I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388													T	55688832	C	T	55688832	3	4	140	1	0	0	0	0	1	0	0	0	11194	536	19	1	761	1	OR6C6	12	55688832	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	9093947	55688832	78163063	46	9399											
APPL2	55198	broad.mit.edu	37	12	105600948	105600948	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:105600948C>T	uc010swu.1	-	7	748	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	APPL2_uc010swt.2_Missense_Mutation_p.R128Q|APPL2_uc001tlf.1_Missense_Mutation_p.R171Q|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Missense_Mutation_p.R128Q	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	171	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGCTTCCGCCGGGCCGCGGC	0.522													T	105600948	C	T	105600948	3	4	140	1	0	0	0	0	1	0	0	0	818	652	23	2	1538	2	APPL2	12	105600948	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	49912116	105600948	28250947	47	9400											
GZMB	3002	broad.mit.edu	37	14	25100297	25100297	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:25100297T>C	uc001wps.2	-	4	790	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E	GZMB_uc010ama.2_Missense_Mutation_p.K230E|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	242	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TTCATGGTTTTCTTTATCCAG	0.493													C	25100297	T	C	25100297	3	2	140	1	0	0	0	0	1	0	0	0	6916	1792	62	4	23	4	GZMB	14	25100297	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08		25100297	82249243	48	9401											
ESRRB	2103	broad.mit.edu	37	14	76957925	76957925	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:76957925A>C	uc001xsr.3	+	7	1294	c.923A>C	c.(922-924)gAt>gCt	p.D308A	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.D308A	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	308						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TACATCATGGATGAGGAGCAC	0.592													C	76957925	A	C	76957925	3	2	140	1	0	0	0	0	1	0	0	0	5261	333	12	5	941	5	ESRRB	14	76957925	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	51857628	76957925	30391615	49	9402											
KCNK13	56659	broad.mit.edu	37	14	90528848	90528848	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:90528848C>T	uc001xye.1	+	0	741	c.299C>T	c.(298-300)gCc>gTc	p.A100V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	100						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTCACCGGCGCCTTCTACTTC	0.692													T	90528848	C	T	90528848	3	4	140	1	0	0	0	0	1	0	0	0	8061	739	26	3	301	3	KCNK13	14	90528848	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	13570923	90528848	16820692	50	9403											
FOXN1	8456	broad.mit.edu	37	17	26862064	26862064	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:26862064C>G	uc010crm.3	+	7	1673	c.1475C>G	c.(1474-1476)cCt>cGt	p.P492R	FOXN1_uc002hbj.3_Missense_Mutation_p.P492R	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	492					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAGGACTCGCCTCTGCCTGCC	0.687													G	26862064	C	G	26862064	3	3	140	1	0	0	0	0	1	0	0	0	6019	681	24	5	1501	5	FOXN1	17	26862064	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08		26862064	54333146	51	9404											
HOXB13	10481	broad.mit.edu	37	17	46805737	46805737	+	Silent	SNP	C	C	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:46805737C>A	uc002ioa.3	-	0	375	c.219G>T	c.(217-219)acG>acT	p.T73T		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	73					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GAGCTGGGGACGTCCCCTGGG	0.652													A	46805737	C	A	46805737	2	1	140	1	0	0	0	0	0	0	0	1	7300	523	19	5		5	HOXB13	17	46805737	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	19943673	46805737	34389473	52	9405											
RNF213	57674	broad.mit.edu	37	17	78262155	78262155	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:78262155C>G	uc002jyh.2	+	4	1093	c.950C>G	c.(949-951)gCc>gGc	p.A317G	RNF213_uc002jyf.3_Missense_Mutation_p.A268G|RNF213_uc021uen.1_Missense_Mutation_p.A268G|RNF213_uc002jyg.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	268										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGGCCTCAGCCTCTATGGTG	0.642													G	78262155	C	G	78262155	3	3	140	1	0	0	0	0	1	0	0	0	13477	739	26	5	964	5	RNF213	17	78262155	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	31456418	78262155	2933055	53	9406											
C18orf62	284274	broad.mit.edu	37	18	73139434	73139434	+	Missense_Mutation	SNP	G	G	A	rs142533881		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr18:73139434G>A	uc002lma.1	-	0	156	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	C18orf62_uc010dqw.1_Non-coding_Transcript|C18orf62_uc002lmb.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.	29						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Esophageal squamous(42;0.131)|Prostate(75;0.155)		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)		TTGAATATCCGTCCCATTCCT	0.498													A	73139434	G	A	73139434	3	1	140	1	0	0	0	0	1	0	0	0	1906	1144	40	1	232	1	C18orf62	18	73139434	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		73139434	4937814	54	9407											
FAM187B	148109	broad.mit.edu	37	19	35718884	35718884	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr19:35718884A>T	uc002nyk.1	-	0	745	c.700T>A	c.(700-702)Tgt>Agt	p.C234S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	234						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CCTAAGGGACAGTCGAGCCAC	0.507													T	35718884	A	T	35718884	3	4	140	1	0	0	0	0	1	0	0	0	5513	188	7	5	417	5	FAM187B	19	35718884	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		35718884	23410099	55	9408											
ZIM3	114026	broad.mit.edu	37	19	57647409	57647409	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr19:57647409C>G	uc002qnz.1	-	4	682	c.296G>C	c.(295-297)aGt>aCt	p.S99T		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTGCGAGACTCTCTTTCAC	0.408													G	57647409	C	G	57647409	3	3	140	1	0	0	0	0	1	0	0	0	17682	565	20	5	1126	5	ZIM3	19	57647409	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	21928525	57647409	1481574	56	9409											
HNF4A	3172	broad.mit.edu	37	20	43048412	43048412	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43048412G>A	uc002xma.3	+	6	877	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	HNF4A_uc002xlt.3_Missense_Mutation_p.R241Q|HNF4A_uc002xlu.3_Missense_Mutation_p.R241Q|HNF4A_uc002xlv.3_Missense_Mutation_p.R241Q|HNF4A_uc002xly.3_Missense_Mutation_p.R263Q|HNF4A_uc010ggq.3_Missense_Mutation_p.R256Q|HNF4A_uc002xlz.3_Missense_Mutation_p.R263Q	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	263					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAGATGAGCCGGGTGTCCATA	0.572													A	43048412	G	A	43048412	3	1	140	1	0	0	0	0	1	0	0	0	7253	1116	39	2	867	2	HNF4A	20	43048412	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		43048412	19977108	57	9410											
PABPC1L	80336	broad.mit.edu	37	20	43545422	43545422	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43545422G>A	uc010ggv.1	+	2	495	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	PABPC1L_uc010zwq.1_Non-coding_Transcript	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	138	RRM 2.						nucleotide binding|RNA binding	p.R138R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CATGGCTCCCGGGGTTTCGGC	0.557													A	43545422	G	A	43545422	3	1	140	1	0	0	0	0	1	0	0	0	11364	1116	39	2	423	2	PABPC1L	20	43545422	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	497010	43545422	19480098	58	9411											
RBPJL	11317	broad.mit.edu	37	20	43938206	43938206	+	Splice_Site	SNP	G	G	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43938206G>T	uc002xns.3	+	3	204	c.132_splice	c.e3-1	p.R44_splice	MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.3_Splice_Site_p.R44_splice	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	44					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTACTCCCAGGTCATCCCCA	0.607													T	43938206	G	T	43938206	5	4	140	1	0	0	0	0	0	0	1	0	13162	1014	35	5	141	5	RBPJL	20	43938206	Splice_Site	SNP	G	TCGA-14-1823-01A-01W-0643-08	392784	43938206	19087314	59	9412											
SSX1	6756	broad.mit.edu	37	X	48118025	48118025	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:48118025A>T	uc004djb.1	+	3	330	c.239A>T	c.(238-240)cAg>cTg	p.Q80L		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	80	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						ACAGACTTCCAGGGGAATGAT	0.448			T	SS18	synovial sarcoma								T	48118025	A	T	48118025	3	4	140	1	0	0	0	0	1	0	0	0	15202	188	7	5	249	5	SSX1	23	48118025	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		48118025	107152535	60	9413											
FOXP3	50943	broad.mit.edu	37	X	49113238	49113238	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:49113238T>A	uc004dnf.4	-	5	805	c.617A>T	c.(616-618)aAg>aTg	p.K206M	FOXP3_uc011mnb.2_Missense_Mutation_p.K229M|FOXP3_uc011mnc.2_Missense_Mutation_p.K206M|FOXP3_uc004dne.4_Missense_Mutation_p.K171M|FOXP3_uc022bwa.1_Missense_Mutation_p.K156M	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.	206					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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 corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					TTCGAAGACCTTCTCACATCC	0.617													A	49113238	T	A	49113238	3	1	140	1	0	0	0	0	1	0	0	0	6028	1609	56	5	706	5	FOXP3	23	49113238	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08	995213	49113238	106157322	61	9414											
HUWE1	10075	broad.mit.edu	37	X	53590731	53590731	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:53590731C>T	uc004dsp.3	-	51	7483	c.7081G>A	c.(7081-7083)Gga>Aga	p.G2361R	HUWE1_uc004dsn.3_Missense_Mutation_p.G1185R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2361	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.G2224R(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCCCAGATCCGCCATCCCTC	0.453													T	53590731	C	T	53590731	3	4	140	1	0	0	0	0	1	0	0	0	7461	661	23	2	6175	2	HUWE1	23	53590731	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	4477493	53590731	101679829	62	9415											
AWAT2	158835	broad.mit.edu	37	X	69261810	69261810	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:69261810C>T	uc004dxt.1	-	6	856	c.850G>A	c.(850-852)Ggg>Agg	p.G284R		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	284						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						AGAGGCTCCCCGACTGCCAGG	0.502													T	69261810	C	T	69261810	3	4	140	1	0	0	0	0	1	0	0	0	1235	652	23	2	155	2	AWAT2	23	69261810	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	15671079	69261810	86008750	63	9416											
OTUD6A	139562	broad.mit.edu	37	X	69282974	69282974	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:69282974C>T	uc004dxu.1	+	0	634	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	200	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CCTTCGGCTACGACGACTTCA	0.622													T	69282974	C	T	69282974	2	4	140	1	0	0	0	0	0	0	0	1	11316	547	19	1		1	OTUD6A	23	69282974	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	21164	69282974	85987586	64	9417											
P2RY10	27334	broad.mit.edu	37	X	78216461	78216461	+	Silent	SNP	C	C	T			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:78216461C>T	uc022bzl.1	+	0	444	c.444C>T	c.(442-444)taC>taT	p.Y148Y	P2RY10_uc004ede.3_Silent_p.Y148Y|P2RY10_uc004edf.3_Silent_p.Y148Y	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	148						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.Y148Y(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGCGTAGGTACGATGTGGGCA	0.498													T	78216461	C	T	78216461	2	4	140	1	0	0	0	0	0	0	0	1	11347	547	19	1		1	P2RY10	23	78216461	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	8933487	78216461	77054099	65	9418											
PEX14	5195	broad.mit.edu	37	1	10683104	10683104	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:10683104G>T	uc001arn.3	+	5	434	c.413G>T	c.(412-414)gGc>gTc	p.G138V	PEX14_uc009vmu.1_Missense_Mutation_p.G95V|PEX14_uc009vmv.3_Missense_Mutation_p.G74V|PEX14_uc010oam.2_Missense_Mutation_p.G74V|PEX14_uc010oan.2_Missense_Mutation_p.G95V|PEX14_uc009vmw.3_Missense_Mutation_p.G74V	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	138					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTGGGCGGCCGAGAGGAC	0.557													T	10683104	G	T	10683104	3	4	141	1	0	0	0	0	1	0	0	0	11742	1203	42	5	435	5	PEX14	1	10683104	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		10683104	238567517	1	9419											
CLCNKA	1188	broad.mit.edu	37	1	16378220	16378220	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:16378220G>A	uc001axx.4	+	13	1449	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	CLCNKA_uc021ogl.1_Missense_Mutation_p.R85H|CLCNKA_uc021ogm.1_Missense_Mutation_p.R269H|CLCNKA_uc001axy.4_Missense_Mutation_p.R269H	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	438					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.R438H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCTATCGGGCGCCTCTTTGGG	0.622													A	16378220	G	A	16378220	3	1	141	1	0	0	0	0	1	0	0	0	3469	1087	38	1		1	CLCNKA	1	16378220	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	5695116	16378220	232872401	2	9420											
SRRM1	10250	broad.mit.edu	37	1	24996658	24996658	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:24996658G>A	uc001bjm.3	+	14	2476	c.2252G>A	c.(2251-2253)cGa>cAa	p.R751Q	SRRM1_uc010oel.2_Missense_Mutation_p.R763Q|SRRM1_uc009vri.1_Missense_Mutation_p.R680Q	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	751	Pro-rich.|Ser-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			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)		TCATCCTCCCGATCTGTCTCC	0.532													A	24996658	G	A	24996658	3	1	141	1	0	0	0	0	1	0	0	0	15167	1058	37	2	2310	2	SRRM1	1	24996658	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	8618438	24996658	224253963	3	9421											
TAL1	6886	broad.mit.edu	37	1	47685764	47685764	+	Silent	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:47685764G>A	uc001cqx.2	-	3	1201	c.624C>T	c.(622-624)gcC>gcT	p.A208A	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.A208A	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	208	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCGGAGCTCGGCAAAGGCCC	0.572			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								A	47685764	G	A	47685764	2	1	141	1	0	0	0	0	0	0	0	1	15538	1103	39	2		2	TAL1	1	47685764	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	22689106	47685764	201564857	4	9422											
L1TD1	54596	broad.mit.edu	37	1	62675593	62675593	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:62675593G>A	uc021ooc.1	+	4	1582	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	L1TD1_uc001dae.4_Missense_Mutation_p.E383K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	383	Glu-rich.							p.S382S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGAGTTTTCCGAGCTAGAGGA	0.488													A	62675593	G	A	62675593	3	1	141	1	0	0	0	0	1	0	0	0	8589	1059	37	2	1153	2	L1TD1	1	62675593	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	14989829	62675593	186575028	5	9423											
PPFIA4	8497	broad.mit.edu	37	1	203029484	203029484	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:203029484G>A	uc009xaj.3	+	26	3098	c.3098G>A	c.(3097-3099)cGc>cAc	p.R1033H	PPFIA4_uc010pqf.2_Missense_Mutation_p.R615H|PPFIA4_uc001gyz.3_Missense_Mutation_p.R402H|PPFIA4_uc001gza.3_Missense_Mutation_p.R402H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R97H			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	402					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCAAGCTCCGCCTGGCCATT	0.612													A	203029484	G	A	203029484	3	1	141	1	0	0	0	0	1	0	0	0	12312	1087	38	1	1239	1	PPFIA4	1	203029484	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	140353891	203029484	46221137	6	9424											
TET3	200424	broad.mit.edu	37	2	74274539	74274539	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:74274539C>T	uc002skb.4	+	0	1090	c.1090C>T	c.(1090-1092)Ccg>Tcg	p.P364S	TET3_uc010fez.2_Missense_Mutation_p.P364S	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	364							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTTCCTCCCCGGCCCCGGC	0.652													T	74274539	C	T	74274539	3	4	141	1	0	0	0	0	1	0	0	0	15768	623	22	3	1092	3	TET3	2	74274539	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08		74274539	168924834	7	9425											
FAM123C	205147	broad.mit.edu	37	2	131521195	131521195	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:131521195C>T	uc021voy.1	+	0	1550	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	FAM123C_uc002trw.2_Missense_Mutation_p.T517M|FAM123C_uc010fmv.2_Missense_Mutation_p.T517M|FAM123C_uc010fms.1_Missense_Mutation_p.T517M|FAM123C_uc010fmt.1_Missense_Mutation_p.T517M|FAM123C_uc010fmu.1_Missense_Mutation_p.T517M	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	517										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CGAGGCCCCACGCCCCGTGCC	0.687													T	131521195	C	T	131521195	3	4	141	1	0	0	0	0	1	0	0	0	5424	536	19	1	1552	1	FAM123C	2	131521195	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	57246656	131521195	111678178	8	9426											
THSD7B	80731	broad.mit.edu	37	2	137988713	137988713	+	Missense_Mutation	SNP	C	C	T	rs61741154		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:137988713C>T	uc002tva.1	+	6	1730	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.T467M	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.T608M(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCGAGTGGACGGAGTGGTCA	0.517													T	137988713	C	T	137988713	3	4	141	1	0	0	0	0	1	0	0	0	15877	536	19	1	1756	1	THSD7B	2	137988713	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	6467518	137988713	105210660	9	9427											
XIRP2	129446	broad.mit.edu	37	2	168101235	168101235	+	Silent	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:168101235G>A	uc002udx.3	+	8	3422	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.S936S|XIRP2_uc010fpq.3_Silent_p.S889S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	936					actin cytoskeleton organization	cell junction	actin binding			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						AAAAAGTTTCGTTAATGACCA	0.368													A	168101235	G	A	168101235	2	1	141	1	0	0	0	0	0	0	0	1	17427	1132	40	1		1	XIRP2	2	168101235	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	30112522	168101235	75098138	10	9428											
TTN	7273	broad.mit.edu	37	2	179647001	179647001	+	Silent	SNP	G	G	A	rs141768043		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:179647001G>A	uc021vsy.1	-	19	3543	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_uc021vsz.1_Silent_p.G1060G|TTN_uc021vta.1_Silent_p.G1060G|TTN_uc021vtb.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1106	Ig-like 4.						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)			TTGGGTTGCCGCCAACTTGGC	0.488													A	179647001	G	A	179647001	2	1	141	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179647001	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	11545766	179647001	63552372	11	9429											
METTL6	131965	broad.mit.edu	37	3	15468122	15468122	+	Translation_Start_Site	SNP	C	C	T	rs140376877	by1000genomes	TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:15468122C>T	uc003bzs.1	-	1					METTL6_uc011avp.1_5'UTR|METTL6_uc003bzt.1_5'UTR|EAF1_uc003bzu.3_5'Flank|EAF1_uc011avq.2_5'Flank	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.								methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GTGAGTTTCACGCCTCAAACA	0.418													T	15468122	C	T	15468122	1	4	141	1	0	0	0	0	0	0	0	0	9504	551	19	1		1	METTL6	3	15468122	Translation_Start_Site	SNP	C	TCGA-14-1825-01A-01W-0643-08		15468122	182554308	12	9430											
TIPARP	25976	broad.mit.edu	37	3	156422618	156422618	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:156422618A>G	uc003fav.3	+	5	2094	c.1672A>G	c.(1672-1674)Atg>Gtg	p.M558V	TIPARP_uc003faw.3_Missense_Mutation_p.M558V|TIPARP_uc021xgg.1_Missense_Mutation_p.M558V	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	558	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCATGCTACAATGTTTGGACA	0.408													G	156422618	A	G	156422618	3	3	141	1	0	0	0	0	1	0	0	0	15921	101	4	4	1690	4	TIPARP	3	156422618	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	140954496	156422618	41599812	13	9431											
VPS8	23355	broad.mit.edu	37	3	184648300	184648300	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:184648300G>A	uc021xik.1	+	32	2930	c.2842G>A	c.(2842-2844)Gga>Aga	p.G948R	VPS8_uc003fpb.1_Missense_Mutation_p.G946R|VPS8_uc010hyd.1_Missense_Mutation_p.G856R|VPS8_uc010hye.1_Missense_Mutation_p.G375R	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	948							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATCCATTCCCGGACACAGTGC	0.393													A	184648300	G	A	184648300	3	1	141	1	0	0	0	0	1	0	0	0	17215	1117	39	2	2968	2	VPS8	3	184648300	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	28225682	184648300	13374130	14	9432											
FGG	2266	broad.mit.edu	37	4	155528020	155528020	+	Silent	SNP	G	G	A	rs146218442		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr4:155528020G>A	uc003ioj.3	-	7	1107	c.966C>T	c.(964-966)ggC>ggT	p.G322G	FGG_uc003iog.3_Silent_p.G322G	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	322	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGGATCATCGCCAAAATCAA	0.473													A	155528020	G	A	155528020	2	1	141	1	0	0	0	0	0	0	0	1	5870	1074	38	1		1	FGG	4	155528020	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08		155528020	35626256	15	9433											
NKD2	85409	broad.mit.edu	37	5	1033572	1033572	+	Silent	SNP	C	C	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:1033572C>G	uc003jbt.1	+	4	293	c.288C>G	c.(286-288)cgC>cgG	p.R96R	NKD2_uc010itf.1_Silent_p.R96R	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	96	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CAGCAAACCGCGAGGGCCCGC	0.692													G	1033572	C	G	1033572	2	3	141	1	0	0	0	0	0	0	0	1	10442	755	27	5		5	NKD2	5	1033572	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08		1033572	179881688	16	9434											
PCDHGC5	56103	broad.mit.edu	37	5	140741624	140741624	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:140741624G>A	uc003ljs.2	+	0	1922	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.R641H|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	643	Cadherin 6.				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)			GCCCGCCAGCGCCTGCTGGTC	0.687													A	140741624	G	A	140741624	3	1	141	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140741624	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	139708052	140741624	40173636	17	9435											
KIF4B	285643	broad.mit.edu	37	5	154396976	154396976	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:154396976C>A	uc010jih.1	+	0	3717	c.3557C>A	c.(3556-3558)gCt>gAt	p.A1186D		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1186	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGCTCCAGCTCCCTCCCCT	0.493													A	154396976	C	A	154396976	3	1	141	1	0	0	0	0	1	0	0	0	8304	797	28	5	3559	5	KIF4B	5	154396976	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	13655352	154396976	26518284	18	9436											
DUSP22	56940	broad.mit.edu	37	6	335117	335117	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:335117G>T	uc003msx.3	+	3	581	c.142G>T	c.(142-144)Gtt>Ttt	p.V48F	DUSP22_uc011dhn.1_Missense_Mutation_p.V48F|DUSP22_uc003msy.1_Missense_Mutation_p.V5F	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	48					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			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)		TCTGCAGGGAGTTAAATACCT	0.299													T	335117	G	T	335117	3	4	141	1	0	0	0	0	1	0	0	0	4821	1029	36	5	156	5	DUSP22	6	335117	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		335117	170779950	19	9437											
HFE	3077	broad.mit.edu	37	6	26091215	26091215	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:26091215G>A	uc003nfx.1	+	1	383	c.223G>A	c.(223-225)Gtt>Att	p.V75I	HFE_uc003nfy.1_Missense_Mutation_p.V52I|HFE_uc010jqe.1_Missense_Mutation_p.V75I|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.V75I|HFE_uc003ngb.1_Missense_Mutation_p.V75I|HFE_uc003ngc.1_Missense_Mutation_p.V75I|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	75	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCCATGGGTTTCCAGTAG	0.488									Hemochromatosis				A	26091215	G	A	26091215	3	1	141	1	0	0	0	0	1	0	0	0	7081	1261	44	3	229	3	HFE	6	26091215	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	25756098	26091215	145023852	20	9438											
C6orf170	221322	broad.mit.edu	37	6	121625568	121625568	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:121625568C>T	uc003pyo.1	-	7	946	c.878G>A	c.(877-879)cGt>cAt	p.R293H	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	293					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		ATTTAGAAGACGAACCTACAA	0.358													T	121625568	C	T	121625568	3	4	141	1	0	0	0	0	1	0	0	0	2344	536	19	1	2995	1	C6orf170	6	121625568	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	95534353	121625568	49489499	21	9439											
RBAK	57786	broad.mit.edu	37	7	5097035	5097035	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr7:5097035G>A	uc021zzc.1	+	2	307	c.125G>A	c.(124-126)aGc>aAc	p.S42N	RBAK_uc003snr.3_Missense_Mutation_p.S42N|RBAK_uc010kss.1_Missense_Mutation_p.S42N|RBAK_uc003sns.1_Missense_Mutation_p.S42N	NM_001204513	NP_001191442	Q9NYW8	RBAK_HUMAN	Homo sapiens RBAK-LOC389458 readthrough (RBAK-LOC389458), mRNA.	42	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAACTATAGCCATCTAGTT	0.433													A	5097035	G	A	5097035	3	1	141	1	0	0	0	0	1	0	0	0	13100	971	34	3	131	3	RBAK	7	5097035	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		5097035	154041628	22	9440											
PDGFRL	5157	broad.mit.edu	37	8	17447275	17447275	+	Splice_Site	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr8:17447275G>A	uc003wxr.3	+	3	798	c.353_splice	c.e3+1	p.S118_splice		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	118	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CTCGCCTCAGGTAAGCATTTT	0.403													A	17447275	G	A	17447275	5	1	141	1	0	0	0	0	0	0	1	0	11663	1275	44	3	360	3	PDGFRL	8	17447275	Splice_Site	SNP	G	TCGA-14-1825-01A-01W-0643-08		17447275	128916747	23	9441											
RANBP6	26953	broad.mit.edu	37	9	6014248	6014248	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:6014248G>T	uc003zjr.3	-	0	1393	c.1360C>A	c.(1360-1362)Ctg>Atg	p.L454M	RANBP6_uc011lmf.2_Missense_Mutation_p.L102M|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	454					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GTACGTAACAGAGCTGCAATC	0.413													T	6014248	G	T	6014248	3	4	141	1	0	0	0	0	1	0	0	0	13031	933	33	5	1961	5	RANBP6	9	6014248	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		6014248	135199183	24	9442											
PLIN2	123	broad.mit.edu	37	9	19120899	19120899	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:19120899G>A	uc003zno.3	-	4	784	c.574C>T	c.(574-576)Cct>Tct	p.P192S	PLIN2_uc011lna.2_Missense_Mutation_p.P164S|PLIN2_uc011lnb.2_Intron	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	192					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAGTGAGAGGGAGGTACTGT	0.403													A	19120899	G	A	19120899	3	1	141	1	0	0	0	0	1	0	0	0	12090	1232	43	3	755	3	PLIN2	9	19120899	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	13106651	19120899	122092532	25	9443											
TMOD1	7111	broad.mit.edu	37	9	100353675	100353675	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:100353675C>T	uc004axl.2	+	8	1109	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TMOD1_uc004axk.2_Missense_Mutation_p.R325W	NM_001166116	NP_003266	P28289	TMOD1_HUMAN	Homo sapiens tropomodulin 1 (TMOD1), transcript variant 2, mRNA.	325					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GCAAGGACCCCGGCTTCGGGC	0.512													T	100353675	C	T	100353675	3	4	141	1	0	0	0	0	1	0	0	0	16230	643	23	2	1003	2	TMOD1	9	100353675	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	81232776	100353675	40859756	26	9444											
SLC44A1	23446	broad.mit.edu	37	9	108110683	108110683	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:108110683A>G	uc004bcn.3	+	4	672	c.451A>G	c.(451-453)Aca>Gca	p.T151A		NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	151						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGAATACACTACATCTCCAAA	0.373													G	108110683	A	G	108110683	3	3	141	1	0	0	0	0	1	0	0	0	14635	391	14	4	469	4	SLC44A1	9	108110683	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	7757008	108110683	33102748	27	9445											
MED22	6837	broad.mit.edu	37	9	136211100	136211100	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:136211100A>G	uc004cdc.3	-	3	527	c.293T>C	c.(292-294)aTt>aCt	p.I98T	MED22_uc004cdd.3_Missense_Mutation_p.I98T	NM_133640	NP_598395	Q15528	MED22_HUMAN	Homo sapiens mediator complex subunit 22 (MED22), transcript variant b, mRNA.	98					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	p.A97V(1)		endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		GCGCTGGTCAATGGCCTCGTT	0.602													G	136211100	A	G	136211100	3	3	141	1	0	0	0	0	1	0	0	0	9440	101	4	4	327	4	MED22	9	136211100	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	28100417	136211100	5002331	28	9446											
THNSL1	79896	broad.mit.edu	37	10	25313035	25313035	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr10:25313035C>A	uc001isi.4	+	2	1212	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.L295M	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	295					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AGCACAGATACTGTTGGAAAG	0.458													A	25313035	C	A	25313035	3	1	141	1	0	0	0	0	1	0	0	0	15859	564	20	5	885	5	THNSL1	10	25313035	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08		25313035	110221712	29	9447											
OR52R1	119695	broad.mit.edu	37	11	4825094	4825094	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:4825094G>T	uc021qcs.1	-	0	517	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GCTTGGTGTTGGCAGAAGGGC	0.552													T	4825094	G	T	4825094	3	4	141	1	0	0	0	0	1	0	0	0	11131	1357	47	5	433	5	OR52R1	11	4825094	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		4825094	130181422	30	9448											
APBB1	322	broad.mit.edu	37	11	6424912	6424912	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:6424912G>A	uc001mdb.1	-	2	962	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	APBB1_uc001mdd.3_Missense_Mutation_p.P68S|APBB1_uc001mdc.1_Missense_Mutation_p.P288S|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.P53S|APBB1_uc009yey.2_Missense_Mutation_p.P29S|APBB1_uc009yfa.2_Missense_Mutation_p.P29S|APBB1_uc010rag.1_Missense_Mutation_p.P29S|APBB1_uc009yfb.2_Missense_Mutation_p.P29S|APBB1_uc001mde.2_Missense_Mutation_p.P29S|APBB1_uc010rah.1_Missense_Mutation_p.P29S	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	288					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCTGTGAGGGGGAGGCCCGG	0.652													A	6424912	G	A	6424912	3	1	141	1	0	0	0	0	1	0	0	0	759	1232	43	3	1318	3	APBB1	11	6424912	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	1599818	6424912	128581604	31	9449											
OR5M1	390168	broad.mit.edu	37	11	56380529	56380529	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:56380529C>T	uc001nja.1	-	0	450	c.450G>A	c.(448-450)atG>atA	p.M150I	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAAACCCATACATGTAAGGGA	0.458													T	56380529	C	T	56380529	3	4	141	1	0	0	0	0	1	0	0	0	11172	478	17	3	501	3	OR5M1	11	56380529	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	49955617	56380529	78625987	32	9450											
NUMA1	4926	broad.mit.edu	37	11	71717105	71717105	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:71717105C>T	uc001orl.1	-	21	5840	c.5668G>A	c.(5668-5670)Ggg>Agg	p.G1890R	NUMA1_uc001orj.2_Missense_Mutation_p.G72R|NUMA1_uc009ysw.1_Missense_Mutation_p.G1457R|NUMA1_uc001ork.1_Missense_Mutation_p.G754R|NUMA1_uc001orm.1_Missense_Mutation_p.G1876R	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1890					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGGACACCCCGGCCTGGGAA	0.592			T	RARA	APL								T	71717105	C	T	71717105	3	4	141	1	0	0	0	0	1	0	0	0	10750	652	23	2	703	2	NUMA1	11	71717105	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	15336576	71717105	63289411	33	9451											
ADAMTS8	11095	broad.mit.edu	37	11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:130281492C>T	uc001qgg.4	-	5	1928	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	ADAMTS8_uc001qgf.3_Missense_Mutation_p.V5M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	524	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.V553M(1)|p.V524M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577													T	130281492	C	T	130281492	3	4	141	1	0	0	0	0	1	0	0	0	272	536	19	1	1115	1	ADAMTS8	11	130281492	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	58564387	130281492	4725024	34	9452											
MLL2	8085	broad.mit.edu	37	12	49420539	49420539	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:49420539A>T	uc001rta.4	-	47	15210	c.15210T>A	c.(15208-15210)taT>taA	p.Y5070*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5070					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R5070*(1)|p.A5069V(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCTGGGTCTCATACACCTCCG	0.632			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			T	49420539	A	T	49420539	4	4	141	1	0	0	0	0	0	1	0	0	9621	224	8	5	1431	5	MLL2	12	49420539	Nonsense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08		49420539	84431356	35	9453											
HOXC13	3229	broad.mit.edu	37	12	54332758	54332758	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:54332758C>T	uc001sei.3	+	0	183	c.68C>T	c.(67-69)gCg>gTg	p.A23V		NM_017410	NP_059106	P31276	HXC13_HUMAN	Homo sapiens homeobox C13 (HOXC13), mRNA.	23						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GAGGACAGCgcggcggagagc	0.672			T	NUP98	AML								T	54332758	C	T	54332758	3	4	141	1	0	0	0	0	1	0	0	0	7312	768	27	1	70	1	HOXC13	12	54332758	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	4912219	54332758	79519137	36	9454											
MMP19	4327	broad.mit.edu	37	12	56231702	56231702	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:56231702G>C	uc001sib.3	-	6	1106	c.985C>G	c.(985-987)Ctt>Gtt	p.L329V	MMP19_uc001sia.3_Missense_Mutation_p.L43V|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.P282R	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	329	Hemopexin-like 1.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CCCTCCCAAAGGGCAGACACT	0.542													C	56231702	G	C	56231702	3	2	141	1	0	0	0	0	1	0	0	0	9657	1000	35	5	553	5	MMP19	12	56231702	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	1898944	56231702	77620193	37	9455											
PTPRB	5787	broad.mit.edu	37	12	70983775	70983775	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:70983775C>T	uc001swb.4	-	5	1395	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L	PTPRB_uc010sto.2_Silent_p.L455L|PTPRB_uc010stp.2_Intron|PTPRB_uc001swc.4_Silent_p.L673L|PTPRB_uc001swa.4_Silent_p.L673L|PTPRB_uc001swd.4_Silent_p.L672L|PTPRB_uc009zrr.2_Silent_p.L552L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	455	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGAATTCTTCAAATTTCCAC	0.458											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70983775	C	T	70983775	2	4	141	1	0	0	0	0	0	0	0	1	12796	825	29	3		3	PTPRB	12	70983775	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	14752073	70983775	62868120	38	9456											
MYF6	4618	broad.mit.edu	37	12	81101567	81101567	+	Silent	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:81101567G>A	uc001szf.2	+	0	160	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	23					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTACTCTGCAGCCATTAGAAG	0.517													A	81101567	G	A	81101567	2	1	141	1	0	0	0	0	0	0	0	1	10028	962	34	3		3	MYF6	12	81101567	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	10117792	81101567	52750328	39	9457											
AACS	65985	broad.mit.edu	37	12	125591804	125591804	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:125591804A>C	uc001uhc.3	+	7	1111	c.905A>C	c.(904-906)cAt>cCt	p.H302P	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.H302P|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	302					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCATGGTGCATTCCGCTGGG	0.607													C	125591804	A	C	125591804	3	2	141	1	0	0	0	0	1	0	0	0	9	217	8	5	935	5	AACS	12	125591804	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	44490237	125591804	8260091	40	9458											
CYSLTR2	57105	broad.mit.edu	37	13	49281611	49281611	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:49281611T>A	uc010acw.1	+	1	948	c.658T>A	c.(658-660)Tgt>Agt	p.C220S	CYSLTR2_uc010acx.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acy.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acz.1_Missense_Mutation_p.C220S|CYSLTR2_uc010ada.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adb.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adc.1_Missense_Mutation_p.C220S|CYSLTR2_uc010add.1_Missense_Mutation_p.C220S|CYSLTR2_uc001vck.2_Missense_Mutation_p.C220S|CYSLTR2_uc021rjl.1_Missense_Mutation_p.C220S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	220					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ACTCAGCATCTGTTATCTGCT	0.478													A	49281611	T	A	49281611	3	1	141	1	0	0	0	0	1	0	0	0	4202	1580	55	5	660	5	CYSLTR2	13	49281611	Missense_Mutation	SNP	T	TCGA-14-1825-01A-01W-0643-08		49281611	65888267	41	9459											
ADPRHL1	113622	broad.mit.edu	37	13	114079397	114079397	+	Silent	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:114079397G>A	uc001vtq.1	-	4	831	c.744C>T	c.(742-744)ccC>ccT	p.P248P	ADPRHL1_uc001vtp.1_Silent_p.P166P	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	248					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CATAATTGTCGGGGAAGATGG	0.438													A	114079397	G	A	114079397	2	1	141	1	0	0	0	0	0	0	0	1	332	1103	39	2		2	ADPRHL1	13	114079397	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	64797786	114079397	1090481	42	9460											
AARS	16	broad.mit.edu	37	16	70310471	70310471	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr16:70310471G>T	uc002eyn.1	-	3	507	c.397C>A	c.(397-399)Ctt>Att	p.L133I		NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	133					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GTAACATAAAGTCTTTCAATG	0.428													T	70310471	G	T	70310471	3	4	141	1	0	0	0	0	1	0	0	0	19	1029	36	5	2581	5	AARS	16	70310471	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		70310471	20044282	43	9461											
MLYCD	23417	broad.mit.edu	37	16	83933176	83933176	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr16:83933176C>G	uc002fgz.3	+	0	447	c.427C>G	c.(427-429)Cac>Gac	p.H143D		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	143					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTCTTCCACCACATCAGCAA	0.731													G	83933176	C	G	83933176	3	3	141	1	0	0	0	0	1	0	0	0	9638	594	21	5	429	5	MLYCD	16	83933176	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	13622705	83933176	6421577	44	9462											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	141	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		7577094	73618116	45	9463											
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			A	7578263	G	A	7578263	4	1	141	1	0	0	0	0	0	1	0	0	16378	1124	39	2	708	2	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	1169	7578263	73616947	46	9464											
PPM1D	8493	broad.mit.edu	37	17	58711271	58711271	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:58711271C>T	uc002iyt.2	+	2	991	c.759C>T	c.(757-759)caC>caT	p.H253H	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	253	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GACTCACTCACAATGGACCTG	0.363													T	58711271	C	T	58711271	2	4	141	1	0	0	0	0	0	0	0	1	12337	477	17	3		3	PPM1D	17	58711271	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	51133008	58711271	22483939	47	9465											
EMILIN2	84034	broad.mit.edu	37	18	2847912	2847912	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:2847912C>T	uc002kln.3	+	1	399	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	80	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACCAGATGCCCTGTCCGTCGG	0.662													T	2847912	C	T	2847912	2	4	141	1	0	0	0	0	0	0	0	1	5094	668	24	3		3	EMILIN2	18	2847912	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08		2847912	75229336	48	9466											
TCEB3C	162699	broad.mit.edu	37	18	44554653	44554653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:44554653G>A	uc010xdb.2	-	0	1797	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCCTGTTTTCGGGTTTTGTcc	0.652													A	44554653	G	A	44554653	4	1	141	1	0	0	0	0	0	1	0	0	15680	1124	39	2	1726	2	TCEB3C	18	44554653	Nonsense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	41706741	44554653	33522595	49	9467											
TRPC4AP	26133	broad.mit.edu	37	20	33591328	33591328	+	Missense_Mutation	SNP	C	C	T	rs146813768		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:33591328C>T	uc002xbk.3	-	17	2175	c.2141G>A	c.(2140-2142)cGg>cAg	p.R714Q	TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Missense_Mutation_p.R305Q|TRPC4AP_uc010zur.2_Missense_Mutation_p.R675Q|TRPC4AP_uc002xbl.3_Missense_Mutation_p.R706Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	714					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGCTCCATCCGCTGCAGCAG	0.612													T	33591328	C	T	33591328	3	4	141	1	0	0	0	0	1	0	0	0	16578	652	23	2	260	2	TRPC4AP	20	33591328	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08		33591328	29434192	50	9468											
TSHZ2	128553	broad.mit.edu	37	20	51870234	51870234	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:51870234C>T	uc002xwo.3	+	1	1124	c.237C>T	c.(235-237)gcC>gcT	p.A79A	TSHZ2_uc021wex.1_Silent_p.A76A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	79					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D78N(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)			ATCAGGATGCCGAGAACGAGT	0.537													T	51870234	C	T	51870234	2	4	141	1	0	0	0	0	0	0	0	1	16621	639	23	2		2	TSHZ2	20	51870234	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	18278906	51870234	11155286	51	9469											
MC3R	4159	broad.mit.edu	37	20	54824418	54824418	+	Silent	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:54824418C>T	uc002xxb.2	+	0	631	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	210					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			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCTGCGGCGTCTGTGGCG	0.562													T	54824418	C	T	54824418	2	4	141	1	0	0	0	0	0	0	0	1	9365	755	27	1		1	MC3R	20	54824418	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	2954184	54824418	8201102	52	9470											
BAGE	85319	broad.mit.edu	37	21	11058294	11058294	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr21:11058294G>A	uc002yiu.1	-	2					BAGE_uc002yit.1_Missense_Mutation_p.P49L|BAGE_uc002yiv.1_3'UTR|BAGE_uc002yiw.1_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							extracellular region								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)		ATTTGATAGTGGCTCCAAAGT	0.403													A	11058294	G	A	11058294	3	1	141	1	0	0	0	0	1	0	0	0	1291	1348	47	3		3	BAGE	21	11058294	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		11058294	37071601	53	9471											
ACR	49	broad.mit.edu	37	22	51183292	51183292	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr22:51183292G>A	uc003bnh.4	+	4	935	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	308					acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCACTCGACCGCCCCCG	0.602													A	51183292	G	A	51183292	3	1	141	1	0	0	0	0	1	0	0	0	169	1058	37	2	941	2	ACR	22	51183292	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		51183292	121274	54	9472											
CFP	5199	broad.mit.edu	37	X	47486279	47486279	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:47486279G>T	uc004dih.3	-	6	1075	c.833C>A	c.(832-834)aCc>aAc	p.T278N	CFP_uc004dig.4_Missense_Mutation_p.T278N|CFP_uc004dii.1_Missense_Mutation_p.T214N|CFP_uc010nhu.2_Missense_Mutation_p.T278N	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	278	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space		p.Q277H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TTGTTCCATGGTCTGGCCCAG	0.662													T	47486279	G	T	47486279	3	4	141	1	0	0	0	0	1	0	0	0	3293	1261	44	5	592	5	CFP	23	47486279	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		47486279	107784281	55	9473											
SLC35A2	7355	broad.mit.edu	37	X	48762551	48762552	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:48762551_48762552delGA	uc011mmm.1	-	4	1040_1041	c.718_719delTC	c.(718-720)tccfs	p.S240fs	SLC35A2_uc004dlo.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlq.3_Intron|SLC35A2_uc004dlr.1_Intron	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	212					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAAGCCGGAGGAGAGACAGGAG	0.649													-	48762552	GA	-	48762551	7	5	141	1	0	1	0	1	0	0	0	0	14571	1174	41	0	719	0	SLC35A2	23	48762551	Frame_Shift_Del	DEL	GA	TCGA-14-1825-01A-01W-0643-08	1276272	48762551	106508009	56	9474											
DCAF12L1	139170	broad.mit.edu	37	X	125685588	125685588	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:125685588C>T	uc022cds.1	-	0	1004	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	DCAF12L1_uc004eul.3_Missense_Mutation_p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	335										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTCCTGGCGCAGATCCAG	0.597													T	125685588	C	T	125685588	3	4	141	1	0	0	0	0	1	0	0	0	4264	768	27	1	391	1	DCAF12L1	23	125685588	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	76923037	125685588	29584972	57	9475											
MAGEA10	4109	broad.mit.edu	37	X	151303380	151303380	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:151303380C>T	uc022cgz.1	-	0	713	c.713G>A	c.(712-714)gGc>gAc	p.G238D	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.G238D|MAGEA10_uc004ffm.2_Missense_Mutation_p.G238D|MAGEA10_uc004ffl.3_Missense_Mutation_p.G238D	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	238	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCAGTAGCCCTCTATGAA	0.527													T	151303380	C	T	151303380	3	4	141	1	0	0	0	0	1	0	0	0	9164	739	26	3	400	3	MAGEA10	23	151303380	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	25617792	151303380	3967180	58	9476											
EXOSC10	5394	broad.mit.edu	37	1	11151619	11151619	+	Missense_Mutation	SNP	C	C	G	rs146190133		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:11151619C>G	uc001asa.3	-	3	458	c.408G>C	c.(406-408)aaG>aaC	p.K136N	EXOSC10_uc001asb.3_Missense_Mutation_p.K136N|EXOSC10_uc009vmy.1_Missense_Mutation_p.K136N	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	136					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCTGTTGATTCTTGTTTACAC	0.458													G	11151619	C	G	11151619	3	3	142	1	0	0	0	0	1	0	0	0	5314	912	32	5	2337	5	EXOSC10	1	11151619	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		11151619	238099002	1	9477											
UBIAD1	29914	broad.mit.edu	37	1	11334002	11334002	+	Silent	SNP	C	C	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:11334002C>G	uc001asg.3	+	0	748	c.414C>G	c.(412-414)ctC>ctG	p.L138L		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	138					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAGTCTTCCTCTACACGTTGG	0.537													G	11334002	C	G	11334002	2	3	142	1	0	0	0	0	0	0	0	1	16882	900	32	5		5	UBIAD1	1	11334002	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	182383	11334002	237916619	2	9478											
TRIM62	55223	broad.mit.edu	37	1	33646782	33646782	+	Silent	SNP	G	G	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:33646782G>C	uc001bxb.3	-	0	890	c.252C>G	c.(250-252)ctC>ctG	p.L84L		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	84						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCGCGCGTTGAGGATGGCGT	0.701													C	33646782	G	C	33646782	2	2	142	1	0	0	0	0	0	0	0	1	16534	1277	45	5		5	TRIM62	1	33646782	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	22312780	33646782	215603839	3	9479											
TCHH	7062	broad.mit.edu	37	1	152080828	152080828	+	Missense_Mutation	SNP	C	C	T	rs71585886		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:152080828C>T	uc009wne.1	-	2	5137	c.4865G>A	c.(4864-4866)cGc>cAc	p.R1622H	TCHH_uc001ezp.2_Missense_Mutation_p.R1622H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1622	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCGTCTTCGCGGAATTTTCT	0.602													T	152080828	C	T	152080828	3	4	142	1	0	0	0	0	1	0	0	0	15697	768	27	1	970	1	TCHH	1	152080828	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	118434046	152080828	97169793	4	9480											
OR10J3	441911	broad.mit.edu	37	1	159283794	159283794	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:159283794T>A	uc010piu.2	-	0	656	c.656A>T	c.(655-657)tAt>tTt	p.Y219F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GATGAGGACATAGGAGATAAA	0.502													A	159283794	T	A	159283794	3	1	142	1	0	0	0	0	1	0	0	0	10911	1406	49	5	335	5	OR10J3	1	159283794	Missense_Mutation	SNP	T	TCGA-14-1829-01A-01W-0643-08	7202966	159283794	89966827	5	9481											
SLAMF6	114836	broad.mit.edu	37	1	160456502	160456502	+	Missense_Mutation	SNP	C	C	T	rs151001421		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:160456502C>T	uc001fwe.2	-	7	1064	c.994G>A	c.(994-996)Gtg>Atg	p.V332M	SLAMF6_uc010pji.2_Missense_Mutation_p.V221M|SLAMF6_uc001fwd.2_Missense_Mutation_p.V331M|SLAMF6_uc010pjh.2_Missense_Mutation_p.V282M	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	332						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GCAACTTACACGACATTGTCA	0.483													T	160456502	C	T	160456502	3	4	142	1	0	0	0	0	1	0	0	0	14368	536	19	1	8	1	SLAMF6	1	160456502	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	1172708	160456502	88794119	6	9482											
KLHDC8A	55220	broad.mit.edu	37	1	205312607	205312607	+	Silent	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:205312607G>A	uc001hcf.1	-	1	694	c.126C>T	c.(124-126)aaC>aaT	p.N42N	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.N42N	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	42								p.D41H(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGGGACGCCGTTGTCGTCAC	0.716													A	205312607	G	A	205312607	2	1	142	1	0	0	0	0	0	0	0	1	8362	1136	40	1		1	KLHDC8A	1	205312607	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	44856105	205312607	43938014	7	9483											
RAB3GAP2	25782	broad.mit.edu	37	1	220340949	220340949	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:220340949C>A	uc010puk.1	-	24	3039	c.2875G>T	c.(2875-2877)Gct>Tct	p.A959S	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A959S|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A539S	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	959					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTTCATTAGCCAGTTTTAAT	0.398													A	220340949	C	A	220340949	3	1	142	1	0	0	0	0	1	0	0	0	12936	739	26	5	1350	5	RAB3GAP2	1	220340949	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	15028342	220340949	28909672	8	9484											
HHIPL2	79802	broad.mit.edu	37	1	222717502	222717502	+	Silent	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:222717502G>A	uc001hnh.1	-	1	409	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	117					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTTCGGCGTCGTAGAGGTGGG	0.567													A	222717502	G	A	222717502	2	1	142	1	0	0	0	0	0	0	0	1	7094	1140	40	1		1	HHIPL2	1	222717502	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	2376553	222717502	26533119	9	9485											
NUP133	55746	broad.mit.edu	37	1	229606471	229606471	+	Silent	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:229606471G>A	uc001htn.3	-	14	2024	c.1932C>T	c.(1930-1932)gcC>gcT	p.A644A		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	644					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACAGCTTTTCGGCATGCTCAC	0.493													A	229606471	G	A	229606471	2	1	142	1	0	0	0	0	0	0	0	1	10754	1103	39	2		2	NUP133	1	229606471	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	6888969	229606471	19644150	10	9486											
SPEG	10290	broad.mit.edu	37	2	220353375	220353375	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr2:220353375G>A	uc010fwg.3	+	32	8014	c.8014G>A	c.(8014-8016)Gtg>Atg	p.V2672M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2672	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.T2671T(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)		CTCCTGTACCGTGGCTGTGGC	0.672													A	220353375	G	A	220353375	3	1	142	1	0	0	0	0	1	0	0	0	15035	1145	40	1	8156	1	SPEG	2	220353375	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		220353375	22845998	11	9487											
DPPA4	55211	broad.mit.edu	37	3	109046838	109046838	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr3:109046838T>G	uc003dxq.4	-	6	967	c.912A>C	c.(910-912)gaA>gaC	p.E304D	DPPA4_uc011bho.2_3'UTR	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	304						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGATATTCTATTCCCATTGGA	0.368													G	109046838	T	G	109046838	3	3	142	1	0	0	0	0	1	0	0	0	4736	1490	52	5	6	5	DPPA4	3	109046838	Missense_Mutation	SNP	T	TCGA-14-1829-01A-01W-0643-08		109046838	88975592	12	9488											
HCLS1	3059	broad.mit.edu	37	3	121356079	121356079	+	Missense_Mutation	SNP	C	C	T	rs142478875	by1000genomes	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr3:121356079C>T	uc003eeh.4	-	6	604	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	HCLS1_uc011bjj.2_Intron|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	160					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CACCCCGTACCGGCCACCAAA	0.557													T	121356079	C	T	121356079	3	4	142	1	0	0	0	0	1	0	0	0	6995	652	23	2	1013	2	HCLS1	3	121356079	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	12309241	121356079	76666351	13	9489											
SLIT2	9353	broad.mit.edu	37	4	20544133	20544133	+	Silent	SNP	T	T	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr4:20544133T>C	uc003gpr.1	+	20	2364	c.2160T>C	c.(2158-2160)agT>agC	p.S720S	SLIT2_uc003gps.1_Silent_p.S712S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	720	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGACAATAGTTGCTCCCCAC	0.413													C	20544133	T	C	20544133	2	2	142	1	0	0	0	0	0	0	0	1	14740	1722	60	4		4	SLIT2	4	20544133	Silent	SNP	T	TCGA-14-1829-01A-01W-0643-08		20544133	170610143	14	9490											
PKD2	5311	broad.mit.edu	37	4	88973158	88973158	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr4:88973158A>G	uc003hre.3	+	6	1651	c.1564A>G	c.(1564-1566)Ata>Gta	p.I522V	PKD2_uc011cdf.2_5'UTR|PKD2_uc011cdg.2_5'UTR|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	522						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGTGGTAGCTATAGGAATTAA	0.323													G	88973158	A	G	88973158	3	3	142	1	0	0	0	0	1	0	0	0	11966	449	16	4	1590	4	PKD2	4	88973158	Missense_Mutation	SNP	A	TCGA-14-1829-01A-01W-0643-08	68429025	88973158	102181118	15	9491											
GPR98	84059	broad.mit.edu	37	5	90055389	90055389	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:90055389G>T	uc003kju.3	+	57	12200	c.12104G>T	c.(12103-12105)gGa>gTa	p.G4035V	GPR98_uc003kjt.3_Missense_Mutation_p.G1741V|GPR98_uc003kjv.3_Missense_Mutation_p.G1635V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4035					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGTATTTGGATTTGAAGAA	0.368													T	90055389	G	T	90055389	3	4	142	1	0	0	0	0	1	0	0	0	6721	1174	41	5	12334	5	GPR98	5	90055389	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		90055389	90859871	16	9492											
ETF1	2107	broad.mit.edu	37	5	137846888	137846888	+	Silent	SNP	T	T	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:137846888T>C	uc003ldc.4	-	8	1028	c.863_splice	c.e8-1	p.G288_splice	ETF1_uc011cyv.2_Splice_Site_p.G274_splice|ETF1_uc010jex.3_Splice_Site|ETF1_uc003ldd.4_Splice_Site_p.G255_splice	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	288					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAAAGTATCGTCCTACGATTA	0.368													C	137846888	T	C	137846888	2	2	142	1	0	0	0	0	0	0	0	1	5268	1681	58	4		4	ETF1	5	137846888	Silent	SNP	T	TCGA-14-1829-01A-01W-0643-08	47791499	137846888	43068372	17	9493											
PCDHB6	56130	broad.mit.edu	37	5	140530986	140530986	+	Missense_Mutation	SNP	T	T	C	rs142117819	by1000genomes	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:140530986T>C	uc003lir.3	+	0	1148	c.1148T>C	c.(1147-1149)aTa>aCa	p.I383T		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	383	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGTTCAATAGAGAACAAT	0.463													C	140530986	T	C	140530986	3	2	142	1	0	0	0	0	1	0	0	0	11546	1406	49	4	1150	4	PCDHB6	5	140530986	Missense_Mutation	SNP	T	TCGA-14-1829-01A-01W-0643-08	2684098	140530986	40384274	18	9494											
PCDHB7	56129	broad.mit.edu	37	5	140554290	140554290	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:140554290G>A	uc003lit.3	+	0	2048	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	625	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGGTGCGTACCGCCAGG	0.697													A	140554290	G	A	140554290	3	1	142	1	0	0	0	0	1	0	0	0	11547	1145	40	1	1876	1	PCDHB7	5	140554290	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	23304	140554290	40360970	19	9495											
TREML1	340205	broad.mit.edu	37	6	41121804	41121804	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:41121804G>A	uc011duc.2	-	1	112	c.68C>T	c.(67-69)cCt>cTt	p.P23L	TREML1_uc003opx.3_Missense_Mutation_p.P23L|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	23	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCACCTCAGGGAGGCTGCC	0.607													A	41121804	G	A	41121804	3	1	142	1	0	0	0	0	1	0	0	0	16469	1000	35	3	885	3	TREML1	6	41121804	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		41121804	129993263	20	9496											
GFRAL	389400	broad.mit.edu	37	6	55196594	55196594	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:55196594C>T	uc003pcm.1	+	1	190	c.104C>T	c.(103-105)gCa>gTa	p.A35V		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	35						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTACGTGATGCAAATGGATGT	0.338													T	55196594	C	T	55196594	3	4	142	1	0	0	0	0	1	0	0	0	6351	710	25	3	110	3	GFRAL	6	55196594	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	14074790	55196594	115918473	21	9497											
BCLAF1	9774	broad.mit.edu	37	6	136599627	136599627	+	Missense_Mutation	SNP	C	C	T	rs149799182		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:136599627C>T	uc003qgx.1	-	3	645	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	BCLAF1_uc003qgy.1_Missense_Mutation_p.R129Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R129Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R131Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	131					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R131P(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTATATGACCGGCGAGATCT	0.448													T	136599627	C	T	136599627	3	4	142	1	0	0	0	0	1	0	0	0	1383	652	23	2	2410	2	BCLAF1	6	136599627	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	81403033	136599627	34515440	22	9498											
USP42	84132	broad.mit.edu	37	7	6183728	6183728	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:6183728G>A	uc011jwo.1	+	8	1014	c.891G>A	c.(889-891)atG>atA	p.M297I	USP42_uc011jwn.1_Missense_Mutation_p.M142I|USP42_uc010kth.1_Missense_Mutation_p.M230I|USP42_uc011jwp.2_Missense_Mutation_p.M297I|USP42_uc011jwq.2_Missense_Mutation_p.M104I|USP42_uc011jwr.1_Missense_Mutation_p.M142I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	297					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTAAAAAGATGGTTCCAGCTT	0.333													A	6183728	G	A	6183728	3	1	142	1	0	0	0	0	1	0	0	0	17070	1348	47	3	921	3	USP42	7	6183728	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		6183728	152954935	23	9499											
URGCP	55665	broad.mit.edu	37	7	43917037	43917037	+	Silent	SNP	G	G	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43917037G>C	uc003tiw.3	-	5	2082	c.2025C>G	c.(2023-2025)gtC>gtG	p.V675V	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Silent_p.V632V|URGCP_uc003tiv.3_Silent_p.V600V|URGCP_uc003tix.3_Silent_p.V666V|URGCP_uc003tiy.3_Silent_p.V632V|URGCP_uc003tiz.3_Silent_p.V632V|URGCP_uc011kbj.2_Silent_p.V632V	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	675					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAGCCCTGTGACCCAGCGGA	0.642													C	43917037	G	C	43917037	2	2	142	1	0	0	0	0	0	0	0	1	17023	1277	45	5		5	URGCP	7	43917037	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	37733309	43917037	115221626	24	9500			1	28		4	4	1732	G		6.585676e-09
URGCP	55665	broad.mit.edu	37	7	43917123	43917123	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43917123G>T	uc003tiw.3	-	5	1996	c.1939C>A	c.(1939-1941)Cca>Aca	p.P647T	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P604T|URGCP_uc003tiv.3_Missense_Mutation_p.P572T|URGCP_uc003tix.3_Missense_Mutation_p.P638T|URGCP_uc003tiy.3_Missense_Mutation_p.P604T|URGCP_uc003tiz.3_Missense_Mutation_p.P604T|URGCP_uc011kbj.2_Missense_Mutation_p.P604T	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	647					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCAAGCCTGGGAAGTGGGCA	0.622													T	43917123	G	T	43917123	3	4	142	1	0	0	0	0	1	0	0	0	17023	1232	43	5	860	5	URGCP	7	43917123	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	86	43917123	115221540	25	9501			1	28		4	4	1732	G		6.585676e-09
URGCP	55665	broad.mit.edu	37	7	43918034	43918034	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43918034G>C	uc003tiw.3	-	5	1085	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.S300C|URGCP_uc003tiv.3_Missense_Mutation_p.S268C|URGCP_uc003tix.3_Missense_Mutation_p.S334C|URGCP_uc003tiy.3_Missense_Mutation_p.S300C|URGCP_uc003tiz.3_Missense_Mutation_p.S300C|URGCP_uc011kbj.2_Missense_Mutation_p.S300C	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	343					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCCAGTGAGACCCGATGTC	0.458													C	43918034	G	C	43918034	3	2	142	1	0	0	0	0	1	0	0	0	17023	942	33	5	1771	5	URGCP	7	43918034	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	911	43918034	115220629	26	9502			1	28		4	4	1732	G		6.585676e-09
URGCP	55665	broad.mit.edu	37	7	43918768	43918768	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43918768G>C	uc003tiw.3	-	5	351	c.294C>G	c.(292-294)atC>atG	p.I98M	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.I55M|URGCP_uc003tiv.3_Missense_Mutation_p.I23M|URGCP_uc003tix.3_Missense_Mutation_p.I89M|URGCP_uc003tiy.3_Missense_Mutation_p.I55M|URGCP_uc003tiz.3_Missense_Mutation_p.I55M|URGCP_uc011kbj.2_Missense_Mutation_p.I55M	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	98					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTCAAAACTGATCTGCAGAG	0.507													C	43918768	G	C	43918768	3	2	142	1	0	0	0	0	1	0	0	0	17023	1280	45	5	2505	5	URGCP	7	43918768	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	734	43918768	115219895	27	9503			1	28		4	4	1732	G		6.585676e-09
EGFR	1956	broad.mit.edu	37	7	55224307	55224307	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:55224307C>T	uc003tqk.3	+	8	1334	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	EGFR_uc003tqh.3_Missense_Mutation_p.T363I|EGFR_uc003tqi.3_Missense_Mutation_p.T363I|EGFR_uc003tqj.3_Missense_Mutation_p.T363I|EGFR_uc022adm.1_Missense_Mutation_p.T363I|EGFR_uc010kzg.2_Missense_Mutation_p.T318I|EGFR_uc022adn.1_Missense_Mutation_p.T318I|EGFR_uc011kco.2_Missense_Mutation_p.T310I|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	363					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAAACTGCACCTCCATCAGT	0.413		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55224307	C	T	55224307	3	4	142	1	0	0	0	0	1	0	0	0	4967	507	18	3	1122	3	EGFR	7	55224307	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	11305539	55224307	103914356	28	9504											
NCF1	653361	broad.mit.edu	37	7	74193497	74193497	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:74193497C>T	uc003ubb.3	+	2	293	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	NCF1_uc010lbs.1_Missense_Mutation_p.L75F|NCF1_uc011kfh.1_Intron	NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	75	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CATCCCCCACCTCCCAGGTGA	0.552													T	74193497	C	T	74193497	3	4	142	1	0	0	0	0	1	0	0	0	10216	681	24	3	233	3	NCF1	7	74193497	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	18969190	74193497	84945166	29	9505											
TRIM4	89122	broad.mit.edu	37	7	99516656	99516656	+	Silent	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:99516656G>A	uc003usd.3	-	0	568	c.369C>T	c.(367-369)atC>atT	p.I123I	TRIM4_uc003use.3_Silent_p.I123I|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Silent_p.I123I	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	123					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGCCTCGTCGATGGGTGCCA	0.612													A	99516656	G	A	99516656	2	1	142	1	0	0	0	0	0	0	0	1	16511	1048	37	2		2	TRIM4	7	99516656	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	25323159	99516656	59622007	30	9506											
LHFPL3	375612	broad.mit.edu	37	7	103969236	103969237	+	In_Frame_Ins	INS	-	-	GCC			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:103969236_103969237insGCC	uc003vce.3	+	0	133_134	c.9_10insGCC	c.(7-12)insGCC	p.14_15insA	LHFPL3_uc003vcf.3_In_Frame_Ins_p.14_15insA|JA682610_uc022ajt.1_5'Flank	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.	0						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						gAATGCCCGGAgccgccgccgc	0.728													GCC	103969237	-	GCC	103969236	7	5	142	1	0	1	1	0	0	0	0	0	8766	291	11	0	11	0	LHFPL3	7	103969236	In_Frame_Ins	INS	-	TCGA-14-1829-01A-01W-0643-08	4452580	103969236	55169427	31	9507											
PIK3CG	5294	broad.mit.edu	37	7	106508126	106508126	+	Silent	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:106508126C>T	uc003vdv.4	+	1	205	c.120C>T	c.(118-120)atC>atT	p.I40I	PIK3CG_uc003vdu.3_Silent_p.I40I|PIK3CG_uc003vdw.3_Silent_p.I40I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	40					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			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						TCATCCCCATCGAGTTCGTGC	0.662													T	106508126	C	T	106508126	2	4	142	1	0	0	0	0	0	0	0	1	11916	874	31	2		2	PIK3CG	7	106508126	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	2538890	106508126	52630537	32	9508											
C7orf66	154907	broad.mit.edu	37	7	108524126	108524126	+	Missense_Mutation	SNP	G	G	A	rs143724624		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:108524126G>A	uc003vfo.3	-	1	334	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	96						integral to membrane		p.R96Q(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGACAATCCGTAGATATGCA	0.348													A	108524126	G	A	108524126	3	1	142	1	0	0	0	0	1	0	0	0	2412	1144	40	1	65	1	C7orf66	7	108524126	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	2016000	108524126	50614537	33	9509											
GPR37	2861	broad.mit.edu	37	7	124387325	124387325	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:124387325C>T	uc003vli.3	-	1	1747	c.1096G>A	c.(1096-1098)Gta>Ata	p.V366I		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	366						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACATCTGTACGTTGGTGGCA	0.463													T	124387325	C	T	124387325	3	4	142	1	0	0	0	0	1	0	0	0	6691	536	19	1	749	1	GPR37	7	124387325	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	15863199	124387325	34751338	34	9510											
AKR1B10	57016	broad.mit.edu	37	7	134212671	134212671	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:134212671C>T	uc003vrr.3	+	0	328	c.8C>T	c.(7-9)aCg>aTg	p.T3M		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	3					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ACCATGGCCACGTTTGTGGAG	0.502													T	134212671	C	T	134212671	3	4	142	1	0	0	0	0	1	0	0	0	467	536	19	1	10	1	AKR1B10	7	134212671	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	9825346	134212671	24925992	35	9511											
EBF2	64641	broad.mit.edu	37	8	25718712	25718712	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:25718712C>A	uc003xes.2	-	12	1460	c.1195G>T	c.(1195-1197)Gct>Tct	p.A399S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	399					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.I398F(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGAGCTTCAGCAATGTCTGCG	0.493													A	25718712	C	A	25718712	3	1	142	1	0	0	0	0	1	0	0	0	4881	710	25	5	548	5	EBF2	8	25718712	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		25718712	120645310	36	9512											
LY96	23643	broad.mit.edu	37	8	74922304	74922304	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:74922304A>G	uc003yad.3	+	2	385	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	LY96_uc022awb.1_Missense_Mutation_p.K61E	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	91					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	p.R90C(2)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCCAAAGCGCAAAGAAGTTAT	0.343													G	74922304	A	G	74922304	3	3	142	1	0	0	0	0	1	0	0	0	9102	131	5	4	281	4	LY96	8	74922304	Missense_Mutation	SNP	A	TCGA-14-1829-01A-01W-0643-08	49203592	74922304	71441718	37	9513											
TAF2	6873	broad.mit.edu	37	8	120831592	120831592	+	Nonsense_Mutation	SNP	G	G	C			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:120831592G>C	uc003you.3	-	2	563	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	98					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACTGTTTTGATTCACTGTG	0.289													C	120831592	G	C	120831592	4	2	142	1	0	0	0	0	0	1	0	0	15521	1294	45	5	3402	5	TAF2	8	120831592	Nonsense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	45909288	120831592	25532430	38	9514											
C9orf131	138724	broad.mit.edu	37	9	35045372	35045372	+	Missense_Mutation	SNP	C	C	G	rs3739871	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr9:35045372C>G	uc003zvw.3	+	1	2775	c.2746C>G	c.(2746-2748)Cca>Gca	p.P916A	C9orf131_uc003zvu.3_Missense_Mutation_p.P868A|C9orf131_uc003zvv.3_Missense_Mutation_p.P843A|C9orf131_uc003zvx.3_Missense_Mutation_p.P881A	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	916			P -> S (in dbSNP:rs3739871).							cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTATCTATCTCCAGGCCCAGG	0.537													G	35045372	C	G	35045372	3	3	142	1	0	0	0	0	1	0	0	0	2457	855	30	5	2768	5	C9orf131	9	35045372	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		35045372	106168059	39	9515											
ARHGAP22	58504	broad.mit.edu	37	10	49667897	49667897	+	Silent	SNP	G	G	A	rs78086414		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr10:49667897G>A	uc001jgu.3	-	4	834	c.537C>T	c.(535-537)caC>caT	p.H179H	ARHGAP22_uc001jgs.3_Silent_p.H73H|ARHGAP22_uc001jgt.3_Silent_p.H163H|ARHGAP22_uc010qgl.2_Silent_p.H120H|ARHGAP22_uc010qgm.2_Silent_p.H169H|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	163	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTCCGCTCGTGGTGGACTG	0.642													A	49667897	G	A	49667897	2	1	142	1	0	0	0	0	0	0	0	1	872	1136	40	1		1	ARHGAP22	10	49667897	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08		49667897	85866850	40	9516											
TLL2	7093	broad.mit.edu	37	10	98156950	98156950	+	Silent	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr10:98156950C>T	uc001kml.2	-	10	1618	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	TLL2_uc009xvf.2_Silent_p.A437A	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	459	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A459A(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AACCTTCGTACGCTGCAAAGA	0.622													T	98156950	C	T	98156950	2	4	142	1	0	0	0	0	0	0	0	1	15943	523	19	1		1	TLL2	10	98156950	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	48489053	98156950	37377797	41	9517											
OR4D10	390197	broad.mit.edu	37	11	59244963	59244963	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr11:59244963C>T	uc001nnz.1	+	0	61	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCCAGAATCGGGAAGTGAG	0.413													T	59244963	C	T	59244963	3	4	142	1	0	0	0	0	1	0	0	0	11054	875	31	2	63	2	OR4D10	11	59244963	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		59244963	75761553	42	9518											
PKNOX2	63876	broad.mit.edu	37	11	125255470	125255470	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr11:125255470C>T	uc001qbu.3	+	5	565	c.251C>T	c.(250-252)aCg>aTg	p.T84M	PKNOX2_uc010saz.2_Missense_Mutation_p.T55M|PKNOX2_uc010sba.2_Missense_Mutation_p.T55M|PKNOX2_uc010sbb.2_Missense_Mutation_p.T20M	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	84						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCGCTCCTGACGCTGCTGTTT	0.567													T	125255470	C	T	125255470	3	4	142	1	0	0	0	0	1	0	0	0	11983	536	19	1	261	1	PKNOX2	11	125255470	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	66010507	125255470	9751046	43	9519											
LTBR	4055	broad.mit.edu	37	12	6497971	6497971	+	Silent	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr12:6497971C>T	uc001qny.1	+	7	949	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	LTBR_uc010sfc.1_Silent_p.L242L|LTBR_uc001qnz.1_Silent_p.L256L	NM_002342	NP_002333	P36941	TNR3_HUMAN	Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.	261					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						TGCAGGATCGCTGCTCAAGAG	0.562													T	6497971	C	T	6497971	2	4	142	1	0	0	0	0	0	0	0	1	9077	796	28	3		3	LTBR	12	6497971	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08		6497971	127353924	44	9520											
SLC17A8	246213	broad.mit.edu	37	12	100811900	100811900	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr12:100811900G>A	uc010svi.2	+	10	1704	c.1391G>A	c.(1390-1392)tGt>tAt	p.C464Y	SLC17A8_uc009ztx.3_Missense_Mutation_p.C414Y	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	464					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.C464S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAATGGTCTGTCCCCTCATT	0.498													A	100811900	G	A	100811900	3	1	142	1	0	0	0	0	1	0	0	0	14423	1377	48	3	1433	3	SLC17A8	12	100811900	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	94313929	100811900	33039995	45	9521											
SIAH3	283514	broad.mit.edu	37	13	46358034	46358034	+	Silent	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr13:46358034G>A	uc001vap.3	-	1	376	c.294C>T	c.(292-294)caC>caT	p.H98H		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	98	His-rich.				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCGGGTTGGCGTGCAGCCCCG	0.682													A	46358034	G	A	46358034	2	1	142	1	0	0	0	0	0	0	0	1	14301	1136	40	1		1	SIAH3	13	46358034	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08		46358034	68811844	46	9522											
NRXN3	9369	broad.mit.edu	37	14	80328137	80328137	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr14:80328137G>A	uc001xun.3	+	16	3507	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.A582T|NRXN3_uc010asw.3_Missense_Mutation_p.A404T|NRXN3_uc001xur.4_Missense_Mutation_p.A377T	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	582					angiogenesis|cell adhesion	integral to membrane		p.Y1005Y(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCCTGTACGCCATGTACAA	0.597													A	80328137	G	A	80328137	3	1	142	1	0	0	0	0	1	0	0	0	10667	1087	38	1	3428	1	NRXN3	14	80328137	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		80328137	27021403	47	9523											
DIO3	1735	broad.mit.edu	37	14	102028607	102028607	+	Silent	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr14:102028607C>T	uc021sdx.1	+	0	920	c.774C>T	c.(772-774)ttC>ttT	p.F258F	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	232					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCGCCTACTTCGAGCGTCTCT	0.632													T	102028607	C	T	102028607	2	4	142	1	0	0	0	0	0	0	0	1	4526	883	31	2		2	DIO3	14	102028607	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	21700470	102028607	5320933	48	9524											
CEP152	22995	broad.mit.edu	37	15	49076318	49076318	+	Splice_Site	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr15:49076318C>T	uc001zwz.3	-	10	1367	c.1174_splice	c.e10-1	p.E392_splice	CEP152_uc001zwy.3_Splice_Site_p.E392_splice|CEP152_uc001zxa.2_Splice_Site_p.E299_splice	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	392					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAATGTCTTCCTAAATAGAAA	0.294													T	49076318	C	T	49076318	5	4	142	1	0	0	0	0	0	0	1	0	3248	695	24	3	3859	3	CEP152	15	49076318	Splice_Site	SNP	C	TCGA-14-1829-01A-01W-0643-08		49076318	53455074	49	9525											
SMG1	23049	broad.mit.edu	37	16	18853724	18853724	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr16:18853724C>T	uc002dfm.3	-	39	6635	c.6272G>A	c.(6271-6273)cGt>cAt	p.R2091H	SMG1_uc010bwb.3_Missense_Mutation_p.R1951H|SMG1_uc010bwa.3_Missense_Mutation_p.R822H|SMG1_uc021ted.1_Missense_Mutation_p.R389H	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2091					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCTTCAAGACGCAAGATGTA	0.408													T	18853724	C	T	18853724	3	4	142	1	0	0	0	0	1	0	0	0	14795	536	19	1	4809	1	SMG1	16	18853724	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		18853724	71501029	50	9526											
FAM83G	644815	broad.mit.edu	37	17	18875008	18875008	+	Silent	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:18875008G>A	uc002guw.3	-	5	2303	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	712										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGAAGCCGTCTTTATCCC	0.622													A	18875008	G	A	18875008	2	1	142	1	0	0	0	0	0	0	0	1	5639	1136	40	1		1	FAM83G	17	18875008	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08		18875008	62320202	51	9527											
CNTNAP1	8506	broad.mit.edu	37	17	40843451	40843451	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:40843451C>A	uc002iay.3	+	14	2482	c.2266C>A	c.(2266-2268)Cag>Aag	p.Q756K	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	756	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCTGTCACTCAGGTAGTGAT	0.587													A	40843451	C	A	40843451	3	1	142	1	0	0	0	0	1	0	0	0	3646	827	29	5	2324	5	CNTNAP1	17	40843451	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	21968443	40843451	40351759	52	9528											
METRNL	284207	broad.mit.edu	37	17	81042908	81042908	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:81042908C>A	uc002kgh.3	+	1	390	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	METRNL_uc002kgi.3_Missense_Mutation_p.L7I	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	89						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AACAGGTGCTCTCATCGTTAA	0.617													A	81042908	C	A	81042908	3	1	142	1	0	0	0	0	1	0	0	0	9489	913	32	5	271	5	METRNL	17	81042908	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	40199457	81042908	152302	53	9529											
METRNL	284207	broad.mit.edu	37	17	81042984	81042984	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:81042984C>T	uc002kgh.3	+	1	466	c.341C>T	c.(340-342)tCc>tTc	p.S114F	METRNL_uc002kgi.3_Missense_Mutation_p.S32F	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	114						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTCACGGACTCCTCGGGGGCC	0.592													T	81042984	C	T	81042984	3	4	142	1	0	0	0	0	1	0	0	0	9489	855	30	3	347	3	METRNL	17	81042984	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	76	81042984	152226	54	9530											
MUC16	94025	broad.mit.edu	37	19	9026244	9026244	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:9026244G>A	uc002mkp.3	-	13	36946	c.36742C>T	c.(36742-36744)Cgt>Tgt	p.R12248C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12250	SEA 2.				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						CCAGTGCGACGCATGTCCTCC	0.542													A	9026244	G	A	9026244	3	1	142	1	0	0	0	0	1	0	0	0	9973	1087	38	1	7065	1	MUC16	19	9026244	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		9026244	50102739	55	9531											
MUC16	94025	broad.mit.edu	37	19	9085463	9085463	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:9085463C>T	uc002mkp.3	-	0	6556	c.6352G>A	c.(6352-6354)Gcg>Acg	p.A2118T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2118	Ser-rich.|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						AAAGTACTCGCGGCTGTATTC	0.488													T	9085463	C	T	9085463	3	4	142	1	0	0	0	0	1	0	0	0	9973	768	27	1	37507	1	MUC16	19	9085463	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	59219	9085463	50043520	56	9532											
MAN2B1	4125	broad.mit.edu	37	19	12768940	12768940	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:12768940C>G	uc002mub.2	-	9	1322	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	MAN2B1_uc010dyv.1_Missense_Mutation_p.E415Q	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	416					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCAGCGCCTCCAGCTGGTTG	0.687													G	12768940	C	G	12768940	3	3	142	1	0	0	0	0	1	0	0	0	9216	864	30	5	1849	5	MAN2B1	19	12768940	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	3683477	12768940	46360043	57	9533											
IL12RB1	3594	broad.mit.edu	37	19	18171938	18171938	+	Silent	SNP	C	C	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:18171938C>A	uc002nhx.1	-	15	1956	c.1905G>T	c.(1903-1905)ggG>ggT	p.G635G	IL12RB1_uc002nhw.1_Silent_p.G595G|IL12RB1_uc010xqb.1_Silent_p.G595G	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	595					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TTACCTCCTTCCCTCCAGGGA	0.552													A	18171938	C	A	18171938	2	1	142	1	0	0	0	0	0	0	0	1	7626	842	30	5		5	IL12RB1	19	18171938	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	5402998	18171938	40957045	58	9534											
MLL2	9757	broad.mit.edu	37	19	36212329	36212329	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:36212329C>T	uc021usv.1	+	2	2080	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	825	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCTGAGCCTCGGGCAGTGGG	0.642			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			T	36212329	C	T	36212329	3	4	142	1	0	0	0	0	1	0	0	0	9621	875	31	2		2	MLL2	19	36212329	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	18040391	36212329	22916654	59	9535											
NLRP12	91662	broad.mit.edu	37	19	54327194	54327194	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:54327194G>A	uc002qcj.4	-	0	455	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	NLRP12_uc002qch.4_Missense_Mutation_p.R79W|NLRP12_uc002qci.4_Missense_Mutation_p.R79W|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R79W	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	79	DAPIN.				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			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)		CTGTTTATCCGCTCAAAGGTG	0.622													A	54327194	G	A	54327194	3	1	142	1	0	0	0	0	1	0	0	0	10474	1086	38	1	3086	1	NLRP12	19	54327194	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	18114865	54327194	4801789	60	9536											
LILRB2	10288	broad.mit.edu	37	19	54782762	54782762	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:54782762C>G	uc002qfb.3	-	5	1126	c.860G>C	c.(859-861)aGc>aCc	p.S287T	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.S287T|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.S287T|LILRB2_uc010yet.2_Missense_Mutation_p.S171T|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	287	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGAGCGGCTCACAGGGCC	0.647													G	54782762	C	G	54782762	3	3	142	1	0	0	0	0	1	0	0	0	8791	797	28	5	972	5	LILRB2	19	54782762	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	455568	54782762	4346221	61	9537											
PEX14	5195	broad.mit.edu	37	1	10555347	10555347	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:10555347G>A	uc001arn.3	+	1	74	c.53G>A	c.(52-54)gGa>gAa	p.G18E	PEX14_uc001arm.1_Non-coding_Transcript|PEX14_uc009vmu.1_Missense_Mutation_p.G18E|PEX14_uc009vmv.3_5'UTR|PEX14_uc010oam.2_5'UTR|PEX14_uc010oan.2_Missense_Mutation_p.G18E|PEX14_uc001arl.3_Non-coding_Transcript	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	18					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCTACTCCAGGAAGTGAAAAT	0.428											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	10555347	G	A	10555347	3	1	143	1	0	0	0	0	1	0	0	0	11742	1174	41	3	59	3	PEX14	1	10555347	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		10555347	238695274	1	9538											
PRAMEF2	65122	broad.mit.edu	37	1	12919972	12919972	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:12919972G>A	uc001aum.1	+	2	799	c.712G>A	c.(712-714)Gtt>Att	p.V238I		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	238										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCAAACTCGTTTTCTCCAG	0.448													A	12919972	G	A	12919972	3	1	143	1	0	0	0	0	1	0	0	0	12435	1145	40	1	718	1	PRAMEF2	1	12919972	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2364625	12919972	236330649	2	9539											
C1orf173	127254	broad.mit.edu	37	1	75055329	75055329	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:75055329C>A	uc001dgg.3	-	11	2381	c.2162G>T	c.(2161-2163)gGg>gTg	p.G721V	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G515V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	721	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCTCCAACCCAGGGAGACC	0.473													A	75055329	C	A	75055329	3	1	143	1	0	0	0	0	1	0	0	0	2014	623	22	5	2442	5	C1orf173	1	75055329	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	62135357	75055329	174195292	3	9540											
GBP5	115362	broad.mit.edu	37	1	89732739	89732739	+	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:89732739A>T	uc001dnc.3	-	5	1063	c.526T>A	c.(526-528)Tta>Ata	p.L176I	GBP5_uc001dnd.3_Missense_Mutation_p.L176I|GBP5_uc001dne.1_Missense_Mutation_p.L176I	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	176						plasma membrane	GTP binding|GTPase activity	p.D175Y(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTCCACACTAAGTCTGGGAAG	0.493													T	89732739	A	T	89732739	3	4	143	1	0	0	0	0	1	0	0	0	6277	69	3	5	1262	5	GBP5	1	89732739	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	14677410	89732739	159517882	4	9541											
TCHHL1	126637	broad.mit.edu	37	1	152058703	152058703	+	Silent	SNP	G	G	A	rs150195731	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:152058703G>A	uc001ezo.1	-	2	1520	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	485							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGCAGGTGCGTTTTTGCTGT	0.478													A	152058703	G	A	152058703	2	1	143	1	0	0	0	0	0	0	0	1	15698	1136	40	1		1	TCHHL1	1	152058703	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	62325964	152058703	97191918	5	9542											
RGS21	431704	broad.mit.edu	37	1	192321267	192321267	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:192321267C>T	uc001gsh.3	+	3	353	c.179C>T	c.(178-180)aCg>aTg	p.T60M		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	60	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTTAAGAAAACGAAAAATGCA	0.348													T	192321267	C	T	192321267	3	4	143	1	0	0	0	0	1	0	0	0	13304	536	19	1	189	1	RGS21	1	192321267	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	40262564	192321267	56929354	6	9543											
KCNH1	3756	broad.mit.edu	37	1	211192295	211192295	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:211192295G>A	uc001hib.2	-	5	1032	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	KCNH1_uc001hic.2_Missense_Mutation_p.R288C	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	288					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TAGTTCATGCGGATAAGTTTG	0.448													A	211192295	G	A	211192295	3	1	143	1	0	0	0	0	1	0	0	0	8031	1116	39	2	2131	2	KCNH1	1	211192295	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	18871028	211192295	38058326	7	9544											
OBSCN	84033	broad.mit.edu	37	1	228479711	228479711	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:228479711G>A	uc009xez.1	+	38	10496	c.10452G>A	c.(10450-10452)ggG>ggA	p.G3484G	OBSCN_uc001hsn.3_Silent_p.G3484G|OBSCN_uc001hsq.1_Silent_p.G740G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3484	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGAAGGGGCCCGAGAACC	0.617													A	228479711	G	A	228479711	2	1	143	1	0	0	0	0	0	0	0	1	10812	1190	42	3		3	OBSCN	1	228479711	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	17287416	228479711	20770910	8	9545											
OR2T6	254879	broad.mit.edu	37	1	248551519	248551519	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:248551519G>A	uc001iei.1	+	0	610	c.610G>A	c.(610-612)Gtt>Att	p.V204I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			TGTGTGCTGCGTTGCAATGCT	0.517													A	248551519	G	A	248551519	3	1	143	1	0	0	0	0	1	0	0	0	11029	1145	40	1	612	1	OR2T6	1	248551519	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	20071808	248551519	699102	9	9546											
HK2	3099	broad.mit.edu	37	2	75081444	75081444	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:75081444C>T	uc002snd.3	+	1	2014	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	30	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R30C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCACATGCGCCTCTCTGA	0.488													T	75081444	C	T	75081444	3	4	143	1	0	0	0	0	1	0	0	0	7191	768	27	1	94	1	HK2	2	75081444	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08		75081444	168117929	10	9547											
PSD4	23550	broad.mit.edu	37	2	113955141	113955141	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:113955141C>T	uc002tjc.3	+	13	2570	c.2387_splice	c.e13-1	p.T796_splice	PSD4_uc002tjd.3_Splice_Site_p.T417_splice|PSD4_uc002tje.3_Splice_Site_p.T767_splice|PSD4_uc002tjf.3_Splice_Site_p.T417_splice|PSD4_uc002tjg.3_5'UTR|PSD4_uc010yxs.2_Missense_Mutation_p.A27V|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	796	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGGAACAGCGCCATGGGGC	0.552													T	113955141	C	T	113955141	3	4	143	1	0	0	0	0	1	0	0	0	12649	782	27	1	2433	1	PSD4	2	113955141	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	38873697	113955141	129244232	11	9548											
TMEM163	81615	broad.mit.edu	37	2	135215640	135215640	+	Missense_Mutation	SNP	C	C	T	rs145243913		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:135215640C>T	uc002ttx.3	-	6	838	c.772G>A	c.(772-774)Gtt>Att	p.V258I	TMEM163_uc002tty.3_Non-coding_Transcript	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	258						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		CCGATCAGAACGCCTATGCTG	0.552													T	135215640	C	T	135215640	3	4	143	1	0	0	0	0	1	0	0	0	16075	536	19	1	105	1	TMEM163	2	135215640	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	21260499	135215640	107983733	12	9549											
GALNT13	114805	broad.mit.edu	37	2	155102330	155102330	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:155102330C>T	uc002tyt.4	+	4	796	c.692C>T	c.(691-693)aCg>aTg	p.T231M	GALNT13_uc002tyr.4_Missense_Mutation_p.T231M|GALNT13_uc010foc.1_Missense_Mutation_p.T50M|GALNT13_uc010fod.3_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	231						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCAGGAAAACGGTTGTCTGC	0.323													T	155102330	C	T	155102330	3	4	143	1	0	0	0	0	1	0	0	0	6211	536	19	1	710	1	GALNT13	2	155102330	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	19886690	155102330	88097043	13	9550											
TTN	7273	broad.mit.edu	37	2	179572434	179572434	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:179572434C>A	uc021vsy.1	-	96	25353	c.25128G>T	c.(25126-25128)agG>agT	p.R8376S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5037S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9303	Ig-like 66.						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)			ACCACTGGATCCTAATTGGCT	0.498													A	179572434	C	A	179572434	3	1	143	1	0	0	0	0	1	0	0	0	16732	854	30	5	75721	5	TTN	2	179572434	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	24470104	179572434	63626939	14	9551											
PDE1A	5136	broad.mit.edu	37	2	183094871	183094871	+	Silent	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:183094871A>G	uc002uos.3	-	6	669	c.585T>C	c.(583-585)atT>atC	p.I195I	PDE1A_uc010zfp.1_Silent_p.I91I|PDE1A_uc002uoq.1_Silent_p.I195I|PDE1A_uc010zfq.1_Silent_p.I195I|PDE1A_uc002uor.3_Silent_p.I179I|PDE1A_uc002uou.3_Silent_p.I161I	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	195	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAGAAACAGGAATCTGTGGAA	0.348													G	183094871	A	G	183094871	2	3	143	1	0	0	0	0	0	0	0	1	11633	242	9	4		4	PDE1A	2	183094871	Silent	SNP	A	TCGA-14-2554-01A-01D-1494-08	3522437	183094871	60104502	15	9552											
COL6A3	1293	broad.mit.edu	37	2	238277593	238277593	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:238277593G>A	uc002vwl.2	-	9	4798	c.4513C>T	c.(4513-4515)Cgc>Tgc	p.R1505C	COL6A3_uc002vwo.2_Missense_Mutation_p.R1299C|COL6A3_uc010znj.1_Missense_Mutation_p.R898C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1505	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		AGCCTCAGGCGCCGTATGGCG	0.537													A	238277593	G	A	238277593	3	1	143	1	0	0	0	0	1	0	0	0	3701	1087	38	1	5160	1	COL6A3	2	238277593	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	55182722	238277593	4921780	16	9553											
RBMS3	27303	broad.mit.edu	37	3	29985717	29985717	+	Missense_Mutation	SNP	T	T	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr3:29985717T>G	uc003cel.3	+	11	1440	c.1070T>G	c.(1069-1071)aTt>aGt	p.I357S	RBMS3_uc010hfq.3_Intron|RBMS3_uc003cek.3_Intron|RBMS3_uc010hfr.3_Intron|RBMS3_uc003cem.3_Missense_Mutation_p.I339S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	357						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CAAGACAGGATTATGATACTC	0.388													G	29985717	T	G	29985717	3	3	143	1	0	0	0	0	1	0	0	0	13150	1493	52	5	1159	5	RBMS3	3	29985717	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08		29985717	168036713	17	9554											
ITIH1	3697	broad.mit.edu	37	3	52825916	52825916	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr3:52825916G>A	uc003dfs.3	+	21	2755	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.D767N|ITIH1_uc021wzg.1_Missense_Mutation_p.D621N|ITIH1_uc021wzh.1_Missense_Mutation_p.D621N|ITIH1_uc003dft.3_3'UTR|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	909	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TATCGTCCCCGACATCTTCTG	0.607													A	52825916	G	A	52825916	3	1	143	1	0	0	0	0	1	0	0	0	7903	1058	37	2	2811	2	ITIH1	3	52825916	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	22840199	52825916	145196514	18	9555											
MAN2B2	23324	broad.mit.edu	37	4	6594914	6594914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:6594914G>A	uc003gjf.1	+	5	731	c.695G>A	c.(694-696)tGg>tAg	p.W232*	MAN2B2_uc003gje.1_Nonsense_Mutation_p.W232*|MAN2B2_uc011bwf.1_Nonsense_Mutation_p.W232*	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	232					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGATTTTACTGGAATGGCGTG	0.582													A	6594914	G	A	6594914	4	1	143	1	0	0	0	0	0	1	0	0	9217	1357	47	3	717	3	MAN2B2	4	6594914	Nonsense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		6594914	184559362	19	9556											
OCIAD1	54940	broad.mit.edu	37	4	48853837	48853837	+	Missense_Mutation	SNP	A	A	C			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:48853837A>C	uc010igk.3	+	6	623	c.407A>C	c.(406-408)aAg>aCg	p.K136T	OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyq.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyp.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyr.3_Missense_Mutation_p.K131T|OCIAD1_uc021xoc.1_Missense_Mutation_p.K131T	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	131						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TATTATCAAAAGTCAAAATAT	0.333													C	48853837	A	C	48853837	3	2	143	1	0	0	0	0	1	0	0	0	10817	72	3	5	433	5	OCIAD1	4	48853837	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	42258923	48853837	142300439	20	9557											
ENAM	10117	broad.mit.edu	37	4	71507774	71507774	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:71507774C>T	uc011caw.1	+	8	912	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	211					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTTGGGGGTCGCCCTCCTTA	0.398													T	71507774	C	T	71507774	3	4	143	1	0	0	0	0	1	0	0	0	5112	884	31	2	661	2	ENAM	4	71507774	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	22653937	71507774	119646502	21	9558											
AFP	174	broad.mit.edu	37	4	74310789	74310789	+	Missense_Mutation	SNP	G	G	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:74310789G>T	uc003hgz.1	+	6	840	c.793G>T	c.(793-795)Gta>Tta	p.V265L	AFP_uc011cbg.1_Missense_Mutation_p.V39L	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	265	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGGCCCATGTACATGAGCA	0.388									Alpha-Fetoprotein, Hereditary Persistence of				T	74310789	G	T	74310789	3	4	143	1	0	0	0	0	1	0	0	0	363	1377	48	5	819	5	AFP	4	74310789	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2803015	74310789	116843487	22	9559											
IRF2	3660	broad.mit.edu	37	4	185310216	185310216	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:185310216C>T	uc003iwf.4	-	8	946	c.746G>A	c.(745-747)cGg>cAg	p.R249Q		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	249					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G248G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCAGTGTGGCCGCCCCTTTCA	0.502													T	185310216	C	T	185310216	3	4	143	1	0	0	0	0	1	0	0	0	7828	652	23	2	307	2	IRF2	4	185310216	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	110999427	185310216	5844060	23	9560											
RAD50	10111	broad.mit.edu	37	5	131927096	131927096	+	Missense_Mutation	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr5:131927096A>G	uc003kxi.3	+	9	2034	c.1633A>G	c.(1633-1635)Aaa>Gaa	p.K545E	RAD50_uc003kxh.3_Missense_Mutation_p.K406E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	545					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCAAAGACAAAGTATGATT	0.378								Homologous recombination					G	131927096	A	G	131927096	3	3	143	1	0	0	0	0	1	0	0	0	12984	131	5	4	1671	4	RAD50	5	131927096	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		131927096	48988164	24	9561											
HIST1H2AA	221613	broad.mit.edu	37	6	25726546	25726546	+	Silent	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:25726546C>T	uc003nfc.3	-	0	245	c.210G>A	c.(208-210)gcG>gcA	p.A70A	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	70					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A70A(2)|p.A70E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TATCGCGAGACGCATTGCCTG	0.522													T	25726546	C	T	25726546	2	4	143	1	0	0	0	0	0	0	0	1	7128	523	19	1		1	HIST1H2AA	6	25726546	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08		25726546	145388521	25	9562											
CFB	717	broad.mit.edu	37	6	31901972	31901972	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:31901972C>T	uc003nyf.3	+	5	1009	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.R249C|CFB_uc010jtk.3_Missense_Mutation_p.R117C|CFB_uc011doq.2_Missense_Mutation_p.R220C|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	265					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCAAATCCAGCGCTCTGGTCA	0.547													T	31901972	C	T	31901972	3	4	143	1	0	0	0	0	1	0	0	0	3278	768	27	1		1	CFB	6	31901972	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	6175426	31901972	139213095	26	9563											
PPP2R5D	5528	broad.mit.edu	37	6	42976451	42976451	+	Silent	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:42976451A>G	uc003oth.3	+	9	1133	c.1047A>G	c.(1045-1047)caA>caG	p.Q349Q	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Silent_p.Q243Q|PPP2R5D_uc011dva.2_Silent_p.Q198Q|PPP2R5D_uc003oti.3_Silent_p.Q198Q|PPP2R5D_uc021yzq.1_Silent_p.Q317Q|PPP2R5D_uc003otj.3_Intron	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	349					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTGTGGTACAATTCCTGGAGA	0.527													G	42976451	A	G	42976451	2	3	143	1	0	0	0	0	0	0	0	1	12395	98	4	4		4	PPP2R5D	6	42976451	Silent	SNP	A	TCGA-14-2554-01A-01D-1494-08	11074479	42976451	128138616	27	9564											
SUPT3H	8464	broad.mit.edu	37	6	44988338	44988338	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:44988338C>T	uc003oxp.3	-	3	384	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	SUPT3H_uc003oxn.1_Missense_Mutation_p.R73Q|SUPT3H_uc003oxo.3_Missense_Mutation_p.R84Q|SUPT3H_uc011dvv.2_5'UTR|SUPT3H_uc011dvw.2_5'UTR	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	155					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	p.R73L(1)|p.R84L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CCTTGCTCCCCGCAGCTGAGA	0.318													T	44988338	C	T	44988338	3	4	143	1	0	0	0	0	1	0	0	0	15394	652	23	2	767	2	SUPT3H	6	44988338	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	2011887	44988338	126126729	28	9565											
STXBP5	134957	broad.mit.edu	37	6	147631323	147631323	+	Missense_Mutation	SNP	G	G	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:147631323G>T	uc003qlz.3	+	9	1196	c.1021G>T	c.(1021-1023)Gac>Tac	p.D341Y	STXBP5_uc010khz.2_Missense_Mutation_p.D341Y|STXBP5_uc003qly.3_Missense_Mutation_p.D12Y	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	341					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			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)		GCTAGAAATGGACTATTCAAT	0.368													T	147631323	G	T	147631323	3	4	143	1	0	0	0	0	1	0	0	0	15355	1174	41	5	1059	5	STXBP5	6	147631323	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	102642985	147631323	23483744	29	9566											
CDK13	8621	broad.mit.edu	37	7	40039057	40039057	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:40039057G>A	uc003thh.4	+	3	2422	c.2140G>A	c.(2140-2142)Ggt>Agt	p.G714S	CDK13_uc003thi.4_Missense_Mutation_p.G714S|CDK13_uc011kbf.2_Missense_Mutation_p.G100S	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	714	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TATTGGAGAAGGTACTTACGG	0.413													A	40039057	G	A	40039057	3	1	143	1	0	0	0	0	1	0	0	0	3129	1000	35	3	2154	3	CDK13	7	40039057	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		40039057	119099606	30	9567											
POM121L12	285877	broad.mit.edu	37	7	53104173	53104173	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:53104173C>T	uc003tpz.3	+	0	825	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	270								p.A270V(4)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCTGGGAGGCGACAACGCCT	0.632													T	53104173	C	T	53104173	3	4	143	1	0	0	0	0	1	0	0	0	12241	768	27	1	811	1	POM121L12	7	53104173	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	13065116	53104173	106034490	31	9568											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	143	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2128870	55233043	103905620	32	9569											
CYP3A4	1576	broad.mit.edu	37	7	99366124	99366124	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:99366124C>T	uc003urv.2	-	7	629	c.522_splice	c.e7-1	p.D174_splice	CYP3A4_uc003urw.2_Splice_Site_p.D174_splice|CYP3A4_uc011kiz.2_Splice_Site_p.D133_splice	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	174			D -> H (in allele CYP3A4*10).		alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GCCCCAAAGACGCTGAGTGGA	0.448													T	99366124	C	T	99366124	3	4	143	1	0	0	0	0	1	0	0	0	4178	550	19	1	1016	1	CYP3A4	7	99366124	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	44133081	99366124	59772539	33	9570											
SH2B2	10603	broad.mit.edu	37	7	101943880	101943880	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:101943880G>A	uc011kko.2	+	1	220	c.175G>A	c.(175-177)Gtc>Atc	p.V59I		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	16					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						cccggtcccagtcccggtccc	0.706													A	101943880	G	A	101943880	3	1	143	1	0	0	0	0	1	0	0	0	14228	1029	36	3	181	3	SH2B2	7	101943880	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2577756	101943880	57194783	34	9571											
C7orf66	154907	broad.mit.edu	37	7	108524569	108524569	+	Silent	SNP	G	G	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:108524569G>T	uc003vfo.3	-	0	69	c.21C>A	c.(19-21)ccC>ccA	p.P7P		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	7						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GACCATCACTGGGTGTCATCA	0.413													T	108524569	G	T	108524569	2	4	143	1	0	0	0	0	0	0	0	1	2412	1335	47	5		5	C7orf66	7	108524569	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	6580689	108524569	50614094	35	9572											
ABP1	26	broad.mit.edu	37	7	150554147	150554147	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:150554147C>T	uc003why.1	+	2	4807	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	ABP1_uc003whz.1_Missense_Mutation_p.R197C|ABP1_uc003wia.1_Missense_Mutation_p.R197C	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	197					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TTCTGGCCAGCGCCGCAGTTG	0.577													T	150554147	C	T	150554147	3	4	143	1	0	0	0	0	1	0	0	0	98	768	27	1	591	1	ABP1	7	150554147	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	42029578	150554147	8584516	36	9573											
MAPK15	225689	broad.mit.edu	37	8	144801639	144801639	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr8:144801639G>A	uc003yzj.3	+	6	749	c.708G>A	c.(706-708)ccG>ccA	p.P236P		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	236	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCATCCCACCGCCATCTGAGG	0.662													A	144801639	G	A	144801639	2	1	143	1	0	0	0	0	0	0	0	1	9277	1074	38	1		1	MAPK15	8	144801639	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		144801639	1562383	37	9574											
ELAVL2	1993	broad.mit.edu	37	9	23701591	23701591	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:23701591C>A	uc003zpu.3	-	4	774	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C	ELAVL2_uc003zps.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpt.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpv.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpw.3_Missense_Mutation_p.G167C	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	167	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G167D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AACCCTACACCCCTTGATATG	0.443													A	23701591	C	A	23701591	3	1	143	1	0	0	0	0	1	0	0	0	5050	623	22	5	592	5	ELAVL2	9	23701591	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08		23701591	117511840	38	9575											
TMEM215	401498	broad.mit.edu	37	9	32784490	32784490	+	Silent	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:32784490C>T	uc022bfh.1	+	0	309	c.309C>T	c.(307-309)tcC>tcT	p.S103S	TMEM215_uc003zri.4_Silent_p.S103S	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	103						integral to membrane		p.S103S(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACCTAGAATCCGGCAAGGGGA	0.602													T	32784490	C	T	32784490	2	4	143	1	0	0	0	0	0	0	0	1	16135	639	23	2		2	TMEM215	9	32784490	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	9082899	32784490	108428941	39	9576											
BSPRY	54836	broad.mit.edu	37	9	116122968	116122968	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:116122968G>A	uc004bhg.4	+	2	530	c.482G>A	c.(481-483)cGc>cAc	p.R161H	BSPRY_uc010muw.3_Missense_Mutation_p.R161H	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	161					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GACACCATCCGCACTGGCCTG	0.602													A	116122968	G	A	116122968	3	1	143	1	0	0	0	0	1	0	0	0	1532	1087	38	1	492	1	BSPRY	9	116122968	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	83338478	116122968	25090463	40	9577											
EGR2	1959	broad.mit.edu	37	10	64573353	64573353	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr10:64573353G>A	uc010qio.2	-	2	1104	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	EGR2_uc010qim.2_Missense_Mutation_p.R349W|EGR2_uc010qin.2_Missense_Mutation_p.R299W|EGR2_uc001jmi.3_Missense_Mutation_p.R349W|EGR2_uc009xph.3_Missense_Mutation_p.R349W	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	349					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAGAACCGCCGGTCGCAGCCT	0.642													A	64573353	G	A	64573353	3	1	143	1	0	0	0	0	1	0	0	0	4972	1115	39	2	389	2	EGR2	10	64573353	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		64573353	70961394	41	9578											
PCGF5	84333	broad.mit.edu	37	10	93038067	93038067	+	Silent	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr10:93038067C>T	uc001khi.3	+	9	1173	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PCGF5_uc001khh.3_Silent_p.F255F|PCGF5_uc010qnk.2_Silent_p.F255F	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GAATTGATTTCGGTTAGACCA	0.388													T	93038067	C	T	93038067	2	4	143	1	0	0	0	0	0	0	0	1	11577	883	31	2		2	PCGF5	10	93038067	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	28464714	93038067	42496680	42	9579											
OR5D13	390142	broad.mit.edu	37	11	55541269	55541269	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:55541269C>T	uc010ril.2	+	0	356	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATGTTAGCAGCGATGGCTTAT	0.423													T	55541269	C	T	55541269	3	4	143	1	0	0	0	0	1	0	0	0	11154	768	27	1	358	1	OR5D13	11	55541269	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08		55541269	79465247	43	9580											
OR5M9	390162	broad.mit.edu	37	11	56230864	56230864	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:56230864G>A	uc010rjj.2	-	0	14	c.14C>T	c.(13-15)aCg>aTg	p.T5M	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T5T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGTCACATCCGTGAAATTAGG	0.408													A	56230864	G	A	56230864	3	1	143	1	0	0	0	0	1	0	0	0	11177	1145	40	1	920	1	OR5M9	11	56230864	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	689595	56230864	78775652	44	9581											
C11orf84	144097	broad.mit.edu	37	11	63585590	63585590	+	Silent	SNP	G	G	A	rs114963373	by1000genomes	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:63585590G>A	uc001nxt.3	+	1	677	c.441G>A	c.(439-441)ccG>ccA	p.P147P		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	Homo sapiens chromosome 11 open reading frame 84 (C11orf84), mRNA.	147	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTGAGCAGCCGTCCCCACCCA	0.587													A	63585590	G	A	63585590	2	1	143	1	0	0	0	0	0	0	0	1	1667	1132	40	1		1	C11orf84	11	63585590	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	7354726	63585590	71420926	45	9582											
CAPN1	823	broad.mit.edu	37	11	64950650	64950650	+	Missense_Mutation	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:64950650A>G	uc009yqd.2	+	2	516	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	CAPN1_uc001odf.2_Missense_Mutation_p.I107V|CAPN1_uc001odg.2_Missense_Mutation_p.I107V|CAPN1_uc010roa.2_Intron	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	107	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGCACAGACATCTGCCAGGG	0.602													G	64950650	A	G	64950650	3	3	143	1	0	0	0	0	1	0	0	0	2622	217	8	4	325	4	CAPN1	11	64950650	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	1365060	64950650	70055866	46	9583											
CABP2	51475	broad.mit.edu	37	11	67287267	67287267	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:67287267C>T	uc001ome.1	-	5	740	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	CABP2_uc001omc.1_Missense_Mutation_p.E212K			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	212	EF-hand 4.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GGGGTACCTTCGAAGTCGACC	0.642													T	67287267	C	T	67287267	3	4	143	1	0	0	0	0	1	0	0	0	2532	893	31	2	36	2	CABP2	11	67287267	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	2336617	67287267	67719249	47	9584											
ALDH3B2	222	broad.mit.edu	37	11	67433035	67433035	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:67433035C>T	uc001omr.3	-	6	866	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ALDH3B2_uc001oms.3_Missense_Mutation_p.D143N|ALDH3B2_uc009ysa.1_Missense_Mutation_p.D143N	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	143					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GTCTGGGGGTCGCAGTTGTCG	0.637													T	67433035	C	T	67433035	3	4	143	1	0	0	0	0	1	0	0	0	500	884	31	2	746	2	ALDH3B2	11	67433035	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	145768	67433035	67573481	48	9585											
CLEC4D	338339	broad.mit.edu	37	12	8672917	8672917	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:8672917G>A	uc001qun.3	+	4	673	c.480G>A	c.(478-480)acG>acA	p.T160T		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	160	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.T160M(1)|p.Q159K(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TGGACCAGACGCCATTTAACC	0.423													A	8672917	G	A	8672917	2	1	143	1	0	0	0	0	0	0	0	1	3514	1074	38	1		1	CLEC4D	12	8672917	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		8672917	125178978	49	9586											
TRHDE	29953	broad.mit.edu	37	12	73015443	73015443	+	Missense_Mutation	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:73015443A>G	uc001sxa.3	+	14	2482	c.2452A>G	c.(2452-2454)Ata>Gta	p.I818V		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	818					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TAGAGAAGTTATAATGCTGGC	0.363													G	73015443	A	G	73015443	3	3	143	1	0	0	0	0	1	0	0	0	16476	449	16	4	2510	4	TRHDE	12	73015443	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	64342526	73015443	60836452	50	9587											
CCDC60	160777	broad.mit.edu	37	12	119968731	119968731	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:119968731G>A	uc001txe.3	+	12	1879	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	472										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTTCCGCCCCGCCAAAAAGAT	0.483													A	119968731	G	A	119968731	3	1	143	1	0	0	0	0	1	0	0	0	2831	1087	38	1	1464	1	CCDC60	12	119968731	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	46953288	119968731	13883164	51	9588											
TDRD3	81550	broad.mit.edu	37	13	61103056	61103056	+	Missense_Mutation	SNP	A	A	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr13:61103056A>G	uc001vhz.4	+	10	2206	c.1418A>G	c.(1417-1419)aAa>aGa	p.K473R	TDRD3_uc010aef.2_Missense_Mutation_p.K298R|TDRD3_uc001via.3_Missense_Mutation_p.K473R|TDRD3_uc010aeg.3_Missense_Mutation_p.K566R|TDRD3_uc001vib.4_Missense_Mutation_p.K472R	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	473					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAAATTGAAAAACATTTTAAT	0.313													G	61103056	A	G	61103056	3	3	143	1	0	0	0	0	1	0	0	0	15729	14	1	4	1739	4	TDRD3	13	61103056	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		61103056	54066822	52	9589											
COL4A2	1284	broad.mit.edu	37	13	111077144	111077144	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr13:111077144G>A	uc001vqx.3	+	4	533	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	82					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.P81Q(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGATTCCCGGGACTGCAGGG	0.597													A	111077144	G	A	111077144	3	1	143	1	0	0	0	0	1	0	0	0	3690	1233	43	3	258	3	COL4A2	13	111077144	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	49974088	111077144	4092734	53	9590											
RNASE10	338879	broad.mit.edu	37	14	20979116	20979116	+	Silent	SNP	G	G	A	rs148975319		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr14:20979116G>A	uc001vxp.2	+	1	974	c.570G>A	c.(568-570)aaG>aaA	p.K190K	RNASE10_uc010tlj.2_Silent_p.K162K	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	162						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GTGAGCTCAAGGGGGGAAAAT	0.478													A	20979116	G	A	20979116	2	1	143	1	0	0	0	0	0	0	0	1	13400	991	35	3		3	RNASE10	14	20979116	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		20979116	86370424	54	9591											
CKMT1B	1159	broad.mit.edu	37	15	43890515	43890515	+	Missense_Mutation	SNP	T	T	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr15:43890515T>G	uc001zsc.3	+	7	1393	c.1001T>G	c.(1000-1002)cTg>cGg	p.L334R	CKMT1B_uc010uds.2_Missense_Mutation_p.L365R|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc010bdj.3_Non-coding_Transcript|CKMT1B_uc010udy.1_Non-coding_Transcript	NM_020990	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	334	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	AAACTGCCCCTGCTAAGCAAA	0.537													G	43890515	T	G	43890515	3	3	143	1	0	0	0	0	1	0	0	0	3450	1580	55	5	1027	5	CKMT1B	15	43890515	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08		43890515	58640877	55	9592											
CACNG3	10368	broad.mit.edu	37	16	24358110	24358110	+	Silent	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:24358110C>T	uc002dmf.3	+	1	1469	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	89					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.Y89*(2)|p.D88Y(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATGCTGACTACGAACAGGACA	0.562													T	24358110	C	T	24358110	2	4	143	1	0	0	0	0	0	0	0	1	2558	547	19	1		1	CACNG3	16	24358110	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08		24358110	65996643	56	9593											
RPGRIP1L	23322	broad.mit.edu	37	16	53671674	53671674	+	Silent	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:53671674C>T	uc002ehp.3	-	20	3217	c.3153G>A	c.(3151-3153)caG>caA	p.Q1051Q	RPGRIP1L_uc002eho.4_Silent_p.Q1017Q|RPGRIP1L_uc010vgy.2_Silent_p.Q1051Q|RPGRIP1L_uc010cbx.3_Silent_p.Q1017Q|RPGRIP1L_uc010vgz.1_Silent_p.Q1051Q	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	1051					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTTCTGCAAGCTGACCTTCAG	0.373													T	53671674	C	T	53671674	2	4	143	1	0	0	0	0	0	0	0	1	13550	796	28	3		3	RPGRIP1L	16	53671674	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	29313564	53671674	36683079	57	9594											
MVD	4597	broad.mit.edu	37	16	88724388	88724388	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:88724388C>T	uc002flg.1	-	2	198	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	64					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGCCAAATCCGGTCCTCGGT	0.617													T	88724388	C	T	88724388	3	4	143	1	0	0	0	0	1	0	0	0	9994	652	23	2	1043	2	MVD	16	88724388	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	35052714	88724388	1630365	58	9595											
PER1	5187	broad.mit.edu	37	17	8053154	8053154	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr17:8053154G>A	uc002gkd.3	-	4	808	c.570C>T	c.(568-570)ggC>ggT	p.G190G	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.G174G|PER1_uc010vus.1_Silent_p.G190G	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	190					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			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						AGCAAGGCTCGCCCTCCTCCA	0.602			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					A	8053154	G	A	8053154	2	1	143	1	0	0	0	0	0	0	0	1	11729	1074	38	1		1	PER1	17	8053154	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		8053154	73142056	59	9596											
MADCAM1	8174	broad.mit.edu	37	19	498515	498515	+	Silent	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:498515C>A	uc002los.3	+	2	367	c.357C>A	c.(355-357)acC>acA	p.T119T	MADCAM1_uc002lot.3_Silent_p.T119T|MADCAM1_uc010drq.3_Silent_p.T24T	NM_130760	NP_570116	Q13477	MADCA_HUMAN	Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.	119	Ig-like 2.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		ACCAGCTGACCGTCTCCCCAG	0.697													A	498515	C	A	498515	2	1	143	1	0	0	0	0	0	0	0	1	9151	639	23	5		5	MADCAM1	19	498515	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08		498515	58630468	60	9597											
HMHA1	23526	broad.mit.edu	37	19	1068628	1068628	+	Silent	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:1068628G>A	uc002lqz.1	+	1	537	c.306G>A	c.(304-306)gaG>gaA	p.E102E	HMHA1_uc010xgd.1_Silent_p.E118E|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	102					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		GCCCGGGCGAGCTGCCCACCG	0.716													A	1068628	G	A	1068628	2	1	143	1	0	0	0	0	0	0	0	1	7240	962	34	3		3	HMHA1	19	1068628	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	570113	1068628	58060355	61	9598											
PIP5K1C	23396	broad.mit.edu	37	19	3653547	3653547	+	Missense_Mutation	SNP	T	T	C			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:3653547T>C	uc002lyj.2	-	6	751	c.662A>G	c.(661-663)tAt>tGt	p.Y221C	PIP5K1C_uc010xhq.2_Missense_Mutation_p.Y221C|PIP5K1C_uc010xhr.2_Missense_Mutation_p.Y221C	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	221	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GTACAGCCCATAGAACTTGGG	0.642													C	3653547	T	C	3653547	3	2	143	1	0	0	0	0	1	0	0	0	11941	1406	49	4	1392	4	PIP5K1C	19	3653547	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08	2584919	3653547	55475436	62	9599											
CYP4F3	4051	broad.mit.edu	37	19	15760895	15760895	+	Missense_Mutation	SNP	C	C	T	rs141338088	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:15760895C>T	uc010xok.2	+	6	870	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	CYP4F3_uc010xol.2_Missense_Mutation_p.R274W|CYP4F3_uc002nbj.3_Missense_Mutation_p.R274W|CYP4F3_uc010xom.2_Missense_Mutation_p.R125W|CYP4F3_uc002nbk.3_Missense_Mutation_p.R274W|CYP4F3_uc010xon.2_5'UTR	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	274					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CATCCAGGAGCGGCGCCGCAC	0.567													T	15760895	C	T	15760895	3	4	143	1	0	0	0	0	1	0	0	0	4190	759	27	1	842	1	CYP4F3	19	15760895	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	12107348	15760895	43368088	63	9600											
ZNF208	7757	broad.mit.edu	37	19	22155163	22155163	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:22155163A>T	uc021urr.1	-	3	2822	c.2673T>A	c.(2671-2673)tgT>tgA	p.C891*	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				CACATTCTTCACATTTGTAGG	0.378													T	22155163	A	T	22155163	4	4	143	1	0	0	0	0	0	1	0	0	17763	157	6	5	1173	5	ZNF208	19	22155163	Nonsense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	6394268	22155163	36973820	64	9601											
EML2	24139	broad.mit.edu	37	19	46127976	46127976	+	Splice_Site	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:46127976C>T	uc010xxm.2	-	12	1517	c.1444_splice	c.e12+1	p.G482_splice	EML2_uc002pcn.3_Splice_Site_p.G281_splice|EML2_uc002pcp.3_Splice_Site_p.G165_splice|EML2_uc002pco.3_Splice_Site|EML2_uc010xxl.2_Splice_Site_p.G428_splice|EML2_uc010xxn.1_Splice_Site|EML2_uc010xxo.2_Splice_Site_p.G281_splice|EML2_uc010ekj.3_Intron|EML2_uc010ekk.1_Splice_Site	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	281					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTGACACTGACCTTTGCCCCA	0.507													T	46127976	C	T	46127976	5	4	143	1	0	0	0	0	0	0	1	0	5097	521	18	3	1151	3	EML2	19	46127976	Splice_Site	SNP	C	TCGA-14-2554-01A-01D-1494-08	23972813	46127976	13001007	65	9602											
SIGLEC9	27180	broad.mit.edu	37	19	51633283	51633283	+	Silent	SNP	C	C	A	rs141580830		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:51633283C>A	uc010yct.2	+						SIGLEC9_uc002pvu.3_Silent_p.R447R	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.						cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			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)		TTGGGACTCGCGGGGACAGGA	0.602													A	51633283	C	A	51633283	2	1	143	1	0	0	0	0	0	0	0	1	14315	759	27	5		5	SIGLEC9	19	51633283	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	5505307	51633283	7495700	66	9603											
BIRC8	112401	broad.mit.edu	37	19	53792992	53792993	+	Frame_Shift_Ins	INS	-	-	G			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:53792992_53792993insG	uc002qbk.3	-	0	1883_1884	c.635_636insC	c.(634-636)caafs	p.Q212fs		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	212					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CTTCAGCACATTGTTTACAAGT	0.426													G	53792993	-	G	53792992	7	5	143	1	0	1	1	0	0	0	0	0	1440	1490	52	0	78	0	BIRC8	19	53792992	Frame_Shift_Ins	INS	-	TCGA-14-2554-01A-01D-1494-08	2159709	53792992	5335991	67	9604											
NLRP11	204801	broad.mit.edu	37	19	56300621	56300621	+	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:56300621A>T	uc010ygf.2	-	9	3369	c.2658T>A	c.(2656-2658)caT>caA	p.H886Q	NLRP11_uc002qlz.3_Missense_Mutation_p.H733Q|NLRP11_uc002qmb.3_Missense_Mutation_p.H787Q|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	886							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCAGTTGGGATGTCTCAAAC	0.453													T	56300621	A	T	56300621	3	4	143	1	0	0	0	0	1	0	0	0	10473	330	12	5	455	5	NLRP11	19	56300621	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	2507629	56300621	2828362	68	9605											
APCDD1L	164284	broad.mit.edu	37	20	57035877	57035877	+	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr20:57035877A>T	uc010zzp.1	-	4	1832	c.1508T>A	c.(1507-1509)gTt>gAt	p.V503D	APCDD1L_uc002xze.1_Missense_Mutation_p.V492D	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	492						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CAGCCCTAGAACTAGGGGCAG	0.612													T	57035877	A	T	57035877	3	4	143	1	0	0	0	0	1	0	0	0	766	43	2	5	34	5	APCDD1L	20	57035877	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		57035877	5989643	69	9606											
LARGE	9215	broad.mit.edu	37	22	34046457	34046457	+	Missense_Mutation	SNP	A	A	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr22:34046457A>T	uc003and.4	-	3	883	c.304T>A	c.(304-306)Tac>Aac	p.Y102N	LARGE_uc003ane.4_Missense_Mutation_p.Y102N|LARGE_uc010gwp.3_Missense_Mutation_p.Y102N|LARGE_uc011ame.2_Missense_Mutation_p.Y34N|LARGE_uc011amf.2_Missense_Mutation_p.Y102N	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	102					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCCATGGAGTAGGTCTTGGAG	0.667													T	34046457	A	T	34046457	3	4	143	1	0	0	0	0	1	0	0	0	8627	420	15	5	2018	5	LARGE	22	34046457	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		34046457	17258109	70	9607											
MXRA5	25878	broad.mit.edu	37	X	3238673	3238673	+	Missense_Mutation	SNP	T	T	C			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:3238673T>C	uc004crg.4	-	4	5210	c.5053A>G	c.(5053-5055)Agt>Ggt	p.S1685G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1685						extracellular region				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)				GTAAACTTACTAGGAATGCTG	0.438													C	3238673	T	C	3238673	3	2	143	1	0	0	0	0	1	0	0	0	10003	1522	53	4	3445	4	MXRA5	23	3238673	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08		3238673	152031887	71	9608											
MAGEB1	4112	broad.mit.edu	37	X	30269312	30269312	+	Missense_Mutation	SNP	G	G	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:30269312G>T	uc022buh.1	+	0	702	c.702G>T	c.(700-702)gaG>gaT	p.E234D	MAGEB1_uc004dcc.3_Missense_Mutation_p.E234D|MAGEB1_uc004dcd.3_Missense_Mutation_p.E234D|MAGEB1_uc004dce.3_Missense_Mutation_p.E234D	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	234	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ATGGAGAGGAGCACTTAATCT	0.498													T	30269312	G	T	30269312	3	4	143	1	0	0	0	0	1	0	0	0	9172	962	34	5	704	5	MAGEB1	23	30269312	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	27030639	30269312	125001248	72	9609											
FAM47A	158724	broad.mit.edu	37	X	34150178	34150178	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:34150178C>T	uc004ddg.3	-	0	270	c.218G>A	c.(217-219)cGt>cAt	p.R73H		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	73								p.R72C(1)|p.R72H(1)|p.R73C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AAACTCGTCACGGCGACAAAC	0.532													T	34150178	C	T	34150178	3	4	143	1	0	0	0	0	1	0	0	0	5569	536	19	1	2161	1	FAM47A	23	34150178	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	3880866	34150178	121120382	73	9610											
ZNF674	641339	broad.mit.edu	37	X	46387797	46387797	+	Missense_Mutation	SNP	G	G	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:46387797G>A	uc004dgr.3	-	4	453	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	ZNF674_uc011mlg.2_Missense_Mutation_p.R76W|ZNF674_uc022bvl.1_Missense_Mutation_p.R76W|ZNF674_uc010nhm.2_Missense_Mutation_p.R76W	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						GCACAGGTCCGTACCGGGGTC	0.587													A	46387797	G	A	46387797	3	1	143	1	0	0	0	0	1	0	0	0	18078	1144	40	1	1527	1	ZNF674	23	46387797	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	12237619	46387797	108882763	74	9611											
ARHGEF9	23229	broad.mit.edu	37	X	62926262	62926262	+	Missense_Mutation	SNP	G	G	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:62926262G>T	uc004dvl.2	-	2	1096	c.257C>A	c.(256-258)cCc>cAc	p.P86H	ARHGEF9_uc011mos.1_Missense_Mutation_p.P65H|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc004dvm.1_Missense_Mutation_p.P65H|ARHGEF9_uc004dvj.2_5'UTR|ARHGEF9_uc011mot.2_Missense_Mutation_p.P33H|ARHGEF9_uc004dvn.3_Missense_Mutation_p.P93H	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	86					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GTCTGAATTGGGGTCCAGGTG	0.547													T	62926262	G	T	62926262	3	4	143	1	0	0	0	0	1	0	0	0	912	1232	43	5	1325	5	ARHGEF9	23	62926262	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	16538465	62926262	92344298	75	9612											
THOC2	57187	broad.mit.edu	37	X	122799518	122799518	+	Missense_Mutation	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:122799518C>T	uc004etu.3	-	11	1393	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	THOC2_uc011muh.1_Missense_Mutation_p.R375H|THOC2_uc011mui.1_Missense_Mutation_p.R339H	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	454					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTGCCTATGCGCACCACTTT	0.358													T	122799518	C	T	122799518	3	4	143	1	0	0	0	0	1	0	0	0	15862	768	27	1	3528	1	THOC2	23	122799518	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	59873256	122799518	32471042	76	9613											
STAG2	10735	broad.mit.edu	37	X	123215351	123215351	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:123215351C>A	uc004eua.3	+	27	3301	c.2897C>A	c.(2896-2898)aCa>aAa	p.T966K	STAG2_uc004etz.4_Missense_Mutation_p.T966K|STAG2_uc004eub.3_Missense_Mutation_p.T966K|STAG2_uc004euc.3_Missense_Mutation_p.T966K|STAG2_uc004eud.3_Missense_Mutation_p.T966K|STAG2_uc004eue.3_Missense_Mutation_p.T966K	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	966					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGTTGAAAACAAGAGAAGCC	0.328													A	123215351	C	A	123215351	3	1	143	1	0	0	0	0	1	0	0	0	15242	478	17	5	2999	5	STAG2	23	123215351	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	415833	123215351	32055209	77	9614											
ODZ1	10178	broad.mit.edu	37	X	123870959	123870959	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:123870959C>A	uc010nqy.3	-	3	688	c.624G>T	c.(622-624)aaG>aaT	p.K208N	ODZ1_uc011muj.2_Missense_Mutation_p.K208N|ODZ1_uc004euj.3_Missense_Mutation_p.K208N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	208	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAGGGGGTGGCTTCCTGGCAC	0.622													A	123870959	C	A	123870959	3	1	143	1	0	0	0	0	1	0	0	0	10834	796	28	5	7690	5	ODZ1	23	123870959	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	655608	123870959	31399601	78	9615											
FLNA	2316	broad.mit.edu	37	X	153581719	153581719	+	Silent	SNP	C	C	T			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:153581719C>T	uc004fkk.2	-	36	6216	c.5967G>A	c.(5965-5967)ccG>ccA	p.P1989P	FLNA_uc011mzn.1_Silent_p.P122P|FLNA_uc010nuu.1_Silent_p.P1981P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1989					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGAGGGCGGGACCACAG	0.627													T	153581719	C	T	153581719	2	4	143	1	0	0	0	0	0	0	0	1	5933	755	27	1		1	FLNA	23	153581719	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	29710760	153581719	1688841	79	9616											
F8	2157	broad.mit.edu	37	X	154185266	154185266	+	Missense_Mutation	SNP	C	C	A			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:154185266C>A	uc004fmt.3	-	10	1889	c.1718G>T	c.(1717-1719)tGc>tTc	p.C573F		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	573	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTTTGTAGCAGATGAGGAG	0.448													A	154185266	C	A	154185266	3	1	143	1	0	0	0	0	1	0	0	0	5350	710	25	5	5429	5	F8	23	154185266	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	603547	154185266	1085294	80	9617											
KCNQ4	9132	broad.mit.edu	37	1	41289931	41289931	+	Splice_Site	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:41289931G>T	uc001cgh.2	+	9	1374	c.1292_splice	c.e9+1	p.S431_splice	KCNQ4_uc001cgi.2_Intron	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	431					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CTGGGGAAAGGTAGGGGCCCC	0.667													T	41289931	G	T	41289931	5	4	144	1	0	0	0	0	0	0	1	0	8085	1275	44	5	1327	5	KCNQ4	1	41289931	Splice_Site	SNP	G	TCGA-14-3476-01B-01D-1353-08		41289931	207960690	1	9618											
ZNHIT6	54680	broad.mit.edu	37	1	86172017	86172017	+	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:86172017G>C	uc001dlh.3	-	2	893	c.744C>G	c.(742-744)caC>caG	p.H248Q	ZNHIT6_uc010osc.2_Missense_Mutation_p.H209Q	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	248					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GTTCTGCTTTGTGTTTCTTTA	0.353													C	86172017	G	C	86172017	3	2	144	1	0	0	0	0	1	0	0	0	18206	1368	48	5	700	5	ZNHIT6	1	86172017	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	44882086	86172017	163078604	2	9619											
GPR61	83873	broad.mit.edu	37	1	110086728	110086728	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:110086728C>A	uc021orh.1	+	0	1084	c.1084C>A	c.(1084-1086)Cca>Aca	p.P362T	GPR61_uc001dxy.2_Missense_Mutation_p.P362T	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	362						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTTCTTCAAGCCAGCTCCAGA	0.557													A	110086728	C	A	110086728	3	1	144	1	0	0	0	0	1	0	0	0	6702	739	26	5	1086	5	GPR61	1	110086728	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	23914711	110086728	139163893	3	9620											
S100A7A	338324	broad.mit.edu	37	1	153391619	153391619	+	Splice_Site	SNP	A	A	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:153391619A>T	uc001fbt.1	+	3	199	c.142_splice	c.e3-2	p.D48_splice		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	48	EF-hand 1.					cytoplasm	calcium ion binding			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)			TTCTCTTCACAGGACAAAAAG	0.408													T	153391619	A	T	153391619	5	4	144	1	0	0	0	0	0	0	1	0	13784	202	7	5	146	5	S100A7A	1	153391619	Splice_Site	SNP	A	TCGA-14-3476-01B-01D-1353-08	43304891	153391619	95859002	4	9621											
OLFML2B	25903	broad.mit.edu	37	1	161967994	161967994	+	Silent	SNP	G	G	A	rs34123330	byFrequency	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:161967994G>A	uc010pkq.2	-	5	1522	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N	OLFML2B_uc001gbu.3_Silent_p.N365N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	365								p.N365N(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612													A	161967994	G	A	161967994	2	1	144	1	0	0	0	0	0	0	0	1	10858	1136	40	1		1	OLFML2B	1	161967994	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	8576375	161967994	87282627	5	9622											
CEP350	9857	broad.mit.edu	37	1	180053197	180053197	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:180053197C>G	uc001gnt.3	+	30	6552	c.6169C>G	c.(6169-6171)Ctg>Gtg	p.L2057V	CEP350_uc009wxl.2_Missense_Mutation_p.L2056V|CEP350_uc001gnv.3_Missense_Mutation_p.L192V|CEP350_uc001gnw.1_5'Flank	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2057						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATCAGAGCTCTGAAGGATGA	0.358													G	180053197	C	G	180053197	3	3	144	1	0	0	0	0	1	0	0	0	3254	912	32	5	6287	5	CEP350	1	180053197	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	18085203	180053197	69197424	6	9623											
DSTYK	25778	broad.mit.edu	37	1	205138447	205138447	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:205138447G>A	uc001hbw.3	-	2	1232	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	DSTYK_uc001hbx.3_Missense_Mutation_p.R390C|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	390						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TATTCCAGACGTTTGGGAGTG	0.458													A	205138447	G	A	205138447	3	1	144	1	0	0	0	0	1	0	0	0	4785	1145	40	1	1665	1	DSTYK	1	205138447	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	25085250	205138447	44112174	7	9624											
USH2A	7399	broad.mit.edu	37	1	216138718	216138718	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:216138718C>T	uc001hku.1	-	36	7448	c.7061G>A	c.(7060-7062)cGc>cAc	p.R2354H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2354	Fibronectin type-III 10.		R -> H (in USH2A).		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.R2354H(2)		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)		TCCATTAGGGCGAAAAGGTGC	0.403										HNSCC(13;0.011)			T	216138718	C	T	216138718	3	4	144	1	0	0	0	0	1	0	0	0	17033	768	27	1	8691	1	USH2A	1	216138718	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	11000271	216138718	33111903	8	9625											
ASAP2	8853	broad.mit.edu	37	2	9347326	9347326	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:9347326G>A	uc002qzh.2	+	0	433	c.93G>A	c.(91-93)gcG>gcA	p.A31A	ASAP2_uc002qzi.2_Silent_p.A31A	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	31					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCCGCACGGCGCAGTGCCGGA	0.731													A	9347326	G	A	9347326	2	1	144	1	0	0	0	0	0	0	0	1	1011	1074	38	1		1	ASAP2	2	9347326	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		9347326	233852047	9	9626											
EHD3	30845	broad.mit.edu	37	2	31484555	31484555	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:31484555C>A	uc002rnu.3	+	4	1664	c.1056C>A	c.(1054-1056)gaC>gaA	p.D352E	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	352					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			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CACCTGGGGACTTCCCCAATC	0.592													A	31484555	C	A	31484555	3	1	144	1	0	0	0	0	1	0	0	0	4979	564	20	5	1074	5	EHD3	2	31484555	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	22137229	31484555	211714818	10	9627											
BCL11A	53335	broad.mit.edu	37	2	60689292	60689292	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:60689292G>A	uc002sae.1	-	3	983	c.755C>T	c.(754-756)tCc>tTc	p.S252F	BCL11A_uc002sab.3_Missense_Mutation_p.S252F|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.S218F|BCL11A_uc002sad.1_Missense_Mutation_p.S100F|BCL11A_uc002saf.1_Missense_Mutation_p.S218F	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	252					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCCAGGCCGGAAGCCTCTCT	0.567			T	IGH@	B-CLL								A	60689292	G	A	60689292	3	1	144	1	0	0	0	0	1	0	0	0	1363	1174	41	3	1862	3	BCL11A	2	60689292	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	29204737	60689292	182510081	11	9628											
CKAP2L	150468	broad.mit.edu	37	2	113514622	113514622	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:113514622G>A	uc002tie.2	-	3	405	c.326C>T	c.(325-327)tCt>tTt	p.S109F	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	109						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGGGTTAGAAGAAACACATTC	0.473													A	113514622	G	A	113514622	3	1	144	1	0	0	0	0	1	0	0	0	3443	942	33	3	1935	3	CKAP2L	2	113514622	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	52825330	113514622	129684751	12	9629											
MARCO	8685	broad.mit.edu	37	2	119726837	119726837	+	Missense_Mutation	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:119726837G>T	uc002tln.1	+	2	331	c.199_splice	c.e2+1	p.V67_splice	MARCO_uc010yyf.1_Splice_Site	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	67					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGTGGTCCAAGGTAAAGCAGG	0.612													T	119726837	G	T	119726837	3	4	144	1	0	0	0	0	1	0	0	0	9311	1014	35	5	205	5	MARCO	2	119726837	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	6212215	119726837	123472536	13	9630											
LRP1B	53353	broad.mit.edu	37	2	141143511	141143511	+	Silent	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:141143511C>A	uc002tvj.1	-	66	11454	c.10482G>T	c.(10480-10482)cgG>cgT	p.R3494R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3494	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		GGCTATCACACCGCCAGTGAT	0.378										TSP Lung(27;0.18)			A	141143511	C	A	141143511	2	1	144	1	0	0	0	0	0	0	0	1	8955	494	18	5		5	LRP1B	2	141143511	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	21416674	141143511	102055862	14	9631											
CSRNP3	80034	broad.mit.edu	37	2	166535947	166535947	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:166535947C>T	uc002udf.3	+	6	1818	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	CSRNP3_uc002udg.3_Missense_Mutation_p.A481V	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	481					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GTTGACTATGCCCGACAAGCA	0.512													T	166535947	C	T	166535947	3	4	144	1	0	0	0	0	1	0	0	0	3965	739	26	3	1456	3	CSRNP3	2	166535947	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	25392436	166535947	76663426	15	9632											
SP5	389058	broad.mit.edu	37	2	171573817	171573817	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:171573817G>A	uc002uge.3	+	1	1266	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H		NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Homo sapiens Sp5 transcription factor (SP5), mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CGCTTCATGCGCAGCGACCAC	0.647													A	171573817	G	A	171573817	3	1	144	1	0	0	0	0	1	0	0	0	14967	1087	38	1	1106	1	SP5	2	171573817	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	5037870	171573817	71625556	16	9633											
TTN	7273	broad.mit.edu	37	2	179613920	179613920	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:179613920C>A	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.G4403C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			TCTGATCTACCAAGTTTTCCA	0.328													A	179613920	C	A	179613920	3	1	144	1	0	0	0	0	1	0	0	0	16732	594	21	5	97090	5	TTN	2	179613920	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	8040103	179613920	63585453	17	9634											
SGOL2	151246	broad.mit.edu	37	2	201437781	201437781	+	Missense_Mutation	SNP	T	T	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:201437781T>G	uc002uvw.2	+	6	2825	c.2712T>G	c.(2710-2712)aaT>aaG	p.N904K	SGOL2_uc010zhd.1_Missense_Mutation_p.N904K|SGOL2_uc010zhe.1_Missense_Mutation_p.N904K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	904					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.N904Y(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAAAAATAAATAAGCTCAGGA	0.299													G	201437781	T	G	201437781	3	3	144	1	0	0	0	0	1	0	0	0	14217	1403	49	5	2734	5	SGOL2	2	201437781	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	21823861	201437781	41761592	18	9635											
CPS1	1373	broad.mit.edu	37	2	211515146	211515146	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:211515146C>T	uc010fur.3	+	28	3564	c.3482C>T	c.(3481-3483)gCg>gTg	p.A1161V	CPS1_uc002vee.4_Missense_Mutation_p.A1155V|CPS1_uc010fus.3_Missense_Mutation_p.A704V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1155	ATP-grasp 2.			EH -> AT (in Ref. 1; BAA14328).	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			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)		CTAGAAGAGGCGACTAGAGTT	0.368													T	211515146	C	T	211515146	3	4	144	1	0	0	0	0	1	0	0	0	3823	768	27	1	3596	1	CPS1	2	211515146	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	10077365	211515146	31684227	19	9636											
UGT1A1	54600	broad.mit.edu	37	2	234581022	234581022	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:234581022G>A	uc002vus.3	+	0	479	c.442G>A	c.(442-444)Gat>Aat	p.D148N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.D148N	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	151					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.D148N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGTGTTTCTCGATCCTTTTGA	0.373													A	234581022	G	A	234581022	3	1	144	1	0	0	0	0	1	0	0	0	16941	1058	37	2		2	UGT1A1	2	234581022	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	23065876	234581022	8618351	20	9637											
ITPR1	3708	broad.mit.edu	37	3	4699832	4699832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:4699832C>T	uc003bqc.3	+	11	1326	c.976C>T	c.(976-978)Cga>Tga	p.R326*	ITPR1_uc021wsi.1_Nonsense_Mutation_p.R341*|ITPR1_uc021wsj.1_Nonsense_Mutation_p.R326*|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	341	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGACGCCTCTCGAAGTAGGTT	0.488													T	4699832	C	T	4699832	4	4	144	1	0	0	0	0	0	1	0	0	7920	876	31	2	1063	2	ITPR1	3	4699832	Nonsense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		4699832	193322598	21	9638											
SLC6A6	6533	broad.mit.edu	37	3	14513770	14513770	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:14513770C>G	uc010heg.3	+	9	1453	c.1154C>G	c.(1153-1155)aCa>aGa	p.T385R	SLC6A6_uc003byq.3_Missense_Mutation_p.T385R|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	385					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCGCTGCCCACATTTTGGTCC	0.537													G	14513770	C	G	14513770	3	3	144	1	0	0	0	0	1	0	0	0	14688	478	17	5	1188	5	SLC6A6	3	14513770	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	9813938	14513770	183508660	22	9639											
C3orf20	84077	broad.mit.edu	37	3	14799033	14799033	+	Missense_Mutation	SNP	G	G	A	rs151210868		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:14799033G>A	uc003byy.3	+	12	2548	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	C3orf20_uc003byz.3_Missense_Mutation_p.R577H|C3orf20_uc003bza.3_Missense_Mutation_p.R577H|C3orf20_uc003bzb.1_Missense_Mutation_p.R200H|C3orf20_uc011avj.2_Missense_Mutation_p.R26H	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	699						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAGCTGGAGCGCTTCCTGTTG	0.627													A	14799033	G	A	14799033	3	1	144	1	0	0	0	0	1	0	0	0	2213	1087	38	1	2138	1	C3orf20	3	14799033	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	285263	14799033	183223397	23	9640											
TTC21A	199223	broad.mit.edu	37	3	39156148	39156148	+	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:39156148G>C	uc003cjc.2	+	5	808	c.631G>C	c.(631-633)Ggg>Cgg	p.G211R	TTC21A_uc003cja.3_Missense_Mutation_p.G211R|TTC21A_uc010hho.2_Missense_Mutation_p.G133R|TTC21A_uc003cjb.3_Missense_Mutation_p.R77T|TTC21A_uc011ayx.1_Missense_Mutation_p.G170R|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	211							binding	p.G211G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTGACTTCAGGGAGCTTCCT	0.552													C	39156148	G	C	39156148	3	2	144	1	0	0	0	0	1	0	0	0	16684	1000	35	5	653	5	TTC21A	3	39156148	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	24357115	39156148	158866282	24	9641											
CACNA2D2	9254	broad.mit.edu	37	3	50416395	50416395	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:50416395C>T	uc003daq.3	-	12	1328	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	CACNA2D2_uc003dap.3_Silent_p.Q430Q	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	430	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CATAGTTATGCTGCCCCACGG	0.587													T	50416395	C	T	50416395	2	4	144	1	0	0	0	0	0	0	0	1	2549	796	28	3		3	CACNA2D2	3	50416395	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	11260247	50416395	147606035	25	9642											
ACOX2	8309	broad.mit.edu	37	3	58520774	58520774	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:58520774G>A	uc003dkl.3	-	1	235	c.60C>T	c.(58-60)ccC>ccT	p.P20P		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	20					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCTATGTCGGGGTGCATTT	0.552													A	58520774	G	A	58520774	2	1	144	1	0	0	0	0	0	0	0	1	159	1103	39	2		2	ACOX2	3	58520774	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	8104379	58520774	139501656	26	9643											
KLF15	28999	broad.mit.edu	37	3	126071173	126071173	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:126071173C>G	uc011bkk.1	-	1	775	c.593G>C	c.(592-594)gGt>gCt	p.G198A		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Homo sapiens Kruppel-like factor 15 (KLF15), mRNA.	198						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGCACTGGCACCACCTGGTGG	0.662													G	126071173	C	G	126071173	3	3	144	1	0	0	0	0	1	0	0	0	8343	507	18	5	665	5	KLF15	3	126071173	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	67550399	126071173	71951257	27	9644											
COL6A6	131873	broad.mit.edu	37	3	130325803	130325803	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:130325803G>A	uc010htl.3	+	19	4713	c.4682G>A	c.(4681-4683)gGc>gAc	p.G1561D	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1561	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGACATACAGGCCCACAGGTA	0.353													A	130325803	G	A	130325803	3	1	144	1	0	0	0	0	1	0	0	0	3703	1203	42	3	4760	3	COL6A6	3	130325803	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	4254630	130325803	67696627	28	9645											
CPB1	1360	broad.mit.edu	37	3	148562321	148562321	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:148562321C>A	uc003ewl.3	+	6	656	c.633C>A	c.(631-633)gaC>gaA	p.D211E		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	211					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACAAGTTAGACTTTTATGTCC	0.413													A	148562321	C	A	148562321	3	1	144	1	0	0	0	0	1	0	0	0	3796	564	20	5	659	5	CPB1	3	148562321	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	18236518	148562321	49460109	29	9646											
SLC7A14	57709	broad.mit.edu	37	3	170198876	170198876	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:170198876C>A	uc003fgz.2	-	6	1511	c.1195G>T	c.(1195-1197)Gca>Tca	p.A399S	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	399						integral to membrane	amino acid transmembrane transporter activity			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)			ACCAACAGTGCGAGGAGCGCT	0.592													A	170198876	C	A	170198876	3	1	144	1	0	0	0	0	1	0	0	0	14696	768	27	5	1128	5	SLC7A14	3	170198876	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	21636555	170198876	27823554	30	9647											
EGF	1950	broad.mit.edu	37	4	110915953	110915953	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr4:110915953T>C	uc003hzy.4	+	19	3374	c.2922T>C	c.(2920-2922)tcT>tcC	p.S974S	EGF_uc011cfu.2_Silent_p.S932S|EGF_uc011cfv.2_Silent_p.S933S|EGF_uc010imk.3_Silent_p.S122S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	974	EGF-like 9.				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			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)	ATAGTGACTCTGAATGTCCCC	0.438													C	110915953	T	C	110915953	2	2	144	1	0	0	0	0	0	0	0	1	4962	1567	55	4		4	EGF	4	110915953	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08		110915953	80238323	31	9648											
PRDM9	56979	broad.mit.edu	37	5	23522495	23522495	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:23522495G>A	uc003jgo.3	+	6	773	c.591G>A	c.(589-591)ccG>ccA	p.P197P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	197					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E196K(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						TCAGCGAGCCGCAGGATGATG	0.443										HNSCC(3;0.000094)			A	23522495	G	A	23522495	2	1	144	1	0	0	0	0	0	0	0	1	12463	1074	38	1		1	PRDM9	5	23522495	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		23522495	157392765	32	9649											
NDUFAF2	91942	broad.mit.edu	37	5	60368982	60368982	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:60368982A>G	uc003jsp.4	+	1	285	c.158A>G	c.(157-159)gAa>gGa	p.E53G	NDUFAF2_uc003jso.4_Intron	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.	53						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				AGAATTGTAGAAGCAGCAAAT	0.323													G	60368982	A	G	60368982	3	3	144	1	0	0	0	0	1	0	0	0	10275	246	9	4	164	4	NDUFAF2	5	60368982	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	36846487	60368982	120546278	33	9650											
PCDHAC2	56143	broad.mit.edu	37	5	140202989	140202989	+	Silent	SNP	T	T	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:140202989T>A	uc003lhl.2	+	0	1629	c.1629T>A	c.(1627-1629)ccT>ccA	p.P543P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.P543P|PCDHAC2_uc003lhj.1_Silent_p.P543P	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	558	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGCCGCCTCTGGGCAGCA	0.701													A	140202989	T	A	140202989	2	1	144	1	0	0	0	0	0	0	0	1	11533	1538	54	5		5	PCDHAC2	5	140202989	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	79834007	140202989	40712271	34	9651											
PCDHGC5	26025	broad.mit.edu	37	5	140810930	140810930	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:140810930C>T	uc003lkt.2	+	0	773	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.R202C	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	202	Cadherin 2.				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)			CGCCCTGGACCGCGAAGAAAA	0.627													T	140810930	C	T	140810930	3	4	144	1	0	0	0	0	1	0	0	0	11571	652	23	2		2	PCDHGC5	5	140810930	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	607941	140810930	40104330	35	9652											
HAVCR1	26762	broad.mit.edu	37	5	156476070	156476070	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:156476070G>A	uc010jij.1	-	4	945	c.760C>T	c.(760-762)Cca>Tca	p.P254S	HAVCR1_uc011ddl.1_Missense_Mutation_p.P85S|HAVCR1_uc003lwi.2_Missense_Mutation_p.P254S|HAVCR1_uc021ygj.1_Missense_Mutation_p.P254S|HAVCR1_uc021ygk.1_Missense_Mutation_p.P85S	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	249					interspecies interaction between organisms	integral to membrane	receptor activity			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)			GAGTACAATGGTGAGCTGGTG	0.478													A	156476070	G	A	156476070	3	1	144	1	0	0	0	0	1	0	0	0	6973	1261	44	3	354	3	HAVCR1	5	156476070	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	15665140	156476070	24439190	36	9653											
SLIT3	6586	broad.mit.edu	37	5	168100307	168100307	+	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:168100307T>C	uc010jjg.3	-	32	4157	c.3737A>G	c.(3736-3738)cAc>cGc	p.H1246R	SLIT3_uc003mab.3_Missense_Mutation_p.H1239R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1239	Laminin G-like.				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			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)			CTCCACACTGTGAAACTGCCC	0.567													C	168100307	T	C	168100307	3	2	144	1	0	0	0	0	1	0	0	0	14741	1696	59	4	871	4	SLIT3	5	168100307	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	11624237	168100307	12814953	37	9654											
BTBD9	114781	broad.mit.edu	37	6	38256182	38256182	+	Silent	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:38256182G>T	uc003ooa.4	-	8	1896	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	BTBD9_uc010jwv.3_Silent_p.V410V|BTBD9_uc003ony.4_Silent_p.V372V|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.V440V	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	440					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GGCTCCGACTGACTCCTTCAA	0.463													T	38256182	G	T	38256182	2	4	144	1	0	0	0	0	0	0	0	1	1548	1277	45	5		5	BTBD9	6	38256182	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		38256182	132858885	38	9655											
SLC29A1	2030	broad.mit.edu	37	6	44198124	44198124	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:44198124T>C	uc003oww.1	+	6	924	c.732T>C	c.(730-732)gcT>gcC	p.A244A	SLC29A1_uc011dvp.1_3'UTR|SLC29A1_uc003owu.1_Silent_p.A165A|SLC29A1_uc003owv.1_Silent_p.A165A|SLC29A1_uc011dvq.1_3'UTR|SLC29A1_uc003owx.1_Silent_p.A165A|SLC29A1_uc003owy.1_Silent_p.A165A|SLC29A1_uc003owz.1_Silent_p.A165A	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	165					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TTGGTCTGGCTGGCCTTCTGC	0.627													C	44198124	T	C	44198124	2	2	144	1	0	0	0	0	0	0	0	1	14534	1567	55	4		4	SLC29A1	6	44198124	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	5941942	44198124	126916943	39	9656											
IMPG1	3617	broad.mit.edu	37	6	76744406	76744406	+	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:76744406T>C	uc003pik.1	-	2	530	c.400A>G	c.(400-402)Acc>Gcc	p.T134A		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	134					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGGCAGAAGGTCTCCTGCTGG	0.498													C	76744406	T	C	76744406	3	2	144	1	0	0	0	0	1	0	0	0	7728	1667	58	4	2053	4	IMPG1	6	76744406	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	32546282	76744406	94370661	40	9657											
IL22RA2	116379	broad.mit.edu	37	6	137482860	137482860	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:137482860G>A	uc003qhl.3	-	1	328	c.27C>T	c.(25-27)ggC>ggT	p.G9G	IL22RA2_uc003qhn.3_Silent_p.G9G|IL22RA2_uc003qhm.3_Silent_p.G9G	NM_052962	NP_443194	Q969J5	I22R2_HUMAN	Homo sapiens interleukin 22 receptor, alpha 2 (IL22RA2), transcript variant 1, mRNA.	9					regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TGATGAGGAAGCCTAGAAAGC	0.413													A	137482860	G	A	137482860	2	1	144	1	0	0	0	0	0	0	0	1	7674	958	34	3		3	IL22RA2	6	137482860	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	60738454	137482860	33632207	41	9658											
EZR	7430	broad.mit.edu	37	6	159239121	159239121	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:159239121G>A	uc003qrt.4	-	0	220	c.5C>T	c.(4-6)cCg>cTg	p.P2L	EZR_uc011efs.2_Missense_Mutation_p.P2L|EZR_uc003qru.4_Missense_Mutation_p.P2L	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	2	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TACTGGTTTCGGCATTTTCGG	0.577			T	ROS1	NSCLC								A	159239121	G	A	159239121	3	1	144	1	0	0	0	0	1	0	0	0	5335	1116	39	2	1807	2	EZR	6	159239121	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	21756261	159239121	11875946	42	9659											
DNAH11	8701	broad.mit.edu	37	7	21657267	21657267	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:21657267G>A	uc003svc.3	+	22	4172	c.4141G>A	c.(4141-4143)Gtc>Atc	p.V1381I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1381	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V1381F(2)|p.V1381I(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAAGTCCGCGTCTGGGATGC	0.483									Kartagener syndrome				A	21657267	G	A	21657267	3	1	144	1	0	0	0	0	1	0	0	0	4599	1145	40	1	4231	1	DNAH11	7	21657267	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		21657267	137481396	43	9660											
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:71275406C>T	uc003twb.4	-	5	964	c.573G>A	c.(571-573)acG>acA	p.T191T	CALN1_uc003twa.4_Silent_p.T149T|CALN1_uc003twc.4_Silent_p.T149T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	149						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.T149T(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463													T	71275406	C	T	71275406	2	4	144	1	0	0	0	0	0	0	0	1	2591	871	31	2		2	CALN1	7	71275406	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	49618139	71275406	87863257	44	9661											
PMPCB	9512	broad.mit.edu	37	7	102937947	102937947	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:102937947C>A	uc003vbk.1	+	0	75	c.41C>A	c.(40-42)gCg>gAg	p.A14E	PMPCB_uc010liu.1_Missense_Mutation_p.A14E|PMPCB_uc003vbl.3_Missense_Mutation_p.A14E|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	14					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATCCGCGGCGCGGCGGCGG	0.652											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	102937947	C	A	102937947	3	1	144	1	0	0	0	0	1	0	0	0	12141	768	27	5	43	5	PMPCB	7	102937947	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	31662541	102937947	56200716	45	9662											
WEE2	494551	broad.mit.edu	37	7	141429401	141429401	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:141429401G>A	uc003vwn.2	+	10	2012	c.1606G>A	c.(1606-1608)Ggg>Agg	p.G536R	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	536					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.G536G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGGGGTCTCTGGGACCCACAC	0.522													A	141429401	G	A	141429401	3	1	144	1	0	0	0	0	1	0	0	0	17342	1348	47	3	1648	3	WEE2	7	141429401	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	38491454	141429401	17709262	46	9663											
GIMAP8	155038	broad.mit.edu	37	7	150171495	150171495	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:150171495A>G	uc003whj.3	+	3	1408	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	360						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			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)		TGAGTACATGATCATACTTCT	0.403													G	150171495	A	G	150171495	3	3	144	1	0	0	0	0	1	0	0	0	6385	333	12	4	1088	4	GIMAP8	7	150171495	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	8742094	150171495	8967168	47	9664											
PTDSS1	9791	broad.mit.edu	37	8	97296348	97296348	+	Missense_Mutation	SNP	C	C	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr8:97296348C>G	uc003yht.1	+	2	385	c.283C>G	c.(283-285)Cga>Gga	p.R95G	PTDSS1_uc003yhu.1_Intron	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	95					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353													G	97296348	C	G	97296348	3	3	144	1	0	0	0	0	1	0	0	0	12736	876	31	5	293	5	PTDSS1	8	97296348	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		97296348	49067674	48	9665											
HSD17B3	3293	broad.mit.edu	37	9	99064323	99064323	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr9:99064323C>T	uc004awa.1	-	0	112	c.64G>A	c.(64-66)Gcg>Acg	p.A22T	HSD17B3_uc010msc.1_Missense_Mutation_p.A22T	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	22					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	ACGCACTTCGCCAGGCAGGCC	0.547													T	99064323	C	T	99064323	3	4	144	1	0	0	0	0	1	0	0	0	7385	739	26	3	912	3	HSD17B3	9	99064323	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		99064323	42149108	49	9666											
UCK1	83549	broad.mit.edu	37	9	134400596	134400596	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr9:134400596A>G	uc004cay.3	-	6	766	c.665T>C	c.(664-666)cTg>cCg	p.L222P	UCK1_uc010mzk.3_Missense_Mutation_p.L213P|UCK1_uc004cba.3_Silent_p.P190P|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	222					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CTGCACGATCAGGTTGATGGC	0.597													G	134400596	A	G	134400596	3	3	144	1	0	0	0	0	1	0	0	0	16920	188	7	4	172	4	UCK1	9	134400596	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	35336273	134400596	6812835	50	9667											
SFTPD	6441	broad.mit.edu	37	10	81701253	81701253	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr10:81701253C>T	uc001kbh.3	-	5	611	c.568G>A	c.(568-570)Ggt>Agt	p.G190S		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	190	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCTGGGGACCCATGGCTCCA	0.507													T	81701253	C	T	81701253	3	4	144	1	0	0	0	0	1	0	0	0	14193	623	22	3	571	3	SFTPD	10	81701253	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		81701253	53833494	51	9668											
MUC5B	727897	broad.mit.edu	37	11	1270908	1270908	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:1270908G>A	uc001lta.3	+	30	12857	c.12798G>A	c.(12796-12798)acG>acA	p.T4266T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4266	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGGATCCACGGCCACCCCGT	0.647													A	1270908	G	A	1270908	2	1	144	1	0	0	0	0	0	0	0	1	9979	1103	39	2		2	MUC5B	11	1270908	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		1270908	133735608	52	9669											
OR52A1	23538	broad.mit.edu	37	11	5172692	5172692	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:5172692C>T	uc010qyy.2	-	0	908	c.908G>A	c.(907-909)cGc>cAc	p.R303H		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	303					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R303C(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)		CACATGAATGCGAATCTGTGT	0.358													T	5172692	C	T	5172692	3	4	144	1	0	0	0	0	1	0	0	0	11108	768	27	1	32	1	OR52A1	11	5172692	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	3901784	5172692	129833824	53	9670											
PDE3B	5140	broad.mit.edu	37	11	14825558	14825558	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:14825558C>A	uc001mln.3	+	4	1837	c.1484C>A	c.(1483-1485)tCt>tAt	p.S495Y	PDE3B_uc010rcr.2_Missense_Mutation_p.S444Y	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	495					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGGTCATCTTCTGTATCACTG	0.358													A	14825558	C	A	14825558	3	1	144	1	0	0	0	0	1	0	0	0	11638	913	32	5	1502	5	PDE3B	11	14825558	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	9652866	14825558	120180958	54	9671											
OR4A47	403253	broad.mit.edu	37	11	48511019	48511019	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:48511019C>A	uc010rhx.2	+	0	675	c.675C>A	c.(673-675)aaC>aaA	p.N225K		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTTTAAAGAACCTTAGTCAGA	0.438													A	48511019	C	A	48511019	3	1	144	1	0	0	0	0	1	0	0	0	11042	506	18	5	677	5	OR4A47	11	48511019	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	33685461	48511019	86495497	55	9672											
OR4A5	81318	broad.mit.edu	37	11	51412194	51412194	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:51412194C>A	uc001nhi.2	-	0	255	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TATGCAGCATCTATAAATGAC	0.438													A	51412194	C	A	51412194	3	1	144	1	0	0	0	0	1	0	0	0	11043	913	32	5	749	5	OR4A5	11	51412194	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	2901175	51412194	83594322	56	9673											
OR8I2	120586	broad.mit.edu	37	11	55861592	55861592	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:55861592C>T	uc010rix.2	+	0	809	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGACCCAGGCGCAGGTGGCA	0.453													T	55861592	C	T	55861592	3	4	144	1	0	0	0	0	1	0	0	0	11240	768	27	1	811	1	OR8I2	11	55861592	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	4449398	55861592	79144924	57	9674											
FAT3	120114	broad.mit.edu	37	11	92532113	92532113	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:92532113C>T	uc001pdj.4	+	8	5951	c.5934C>T	c.(5932-5934)agC>agT	p.S1978S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1978	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				CCATGGACAGCGGCCTCCACT	0.433										TCGA Ovarian(4;0.039)			T	92532113	C	T	92532113	2	4	144	1	0	0	0	0	0	0	0	1	5691	767	27	1		1	FAT3	11	92532113	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	36670521	92532113	42474403	58	9675											
CLEC1A	51267	broad.mit.edu	37	12	10233990	10233990	+	Silent	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:10233990G>T	uc001qxb.3	-	2	321	c.237C>A	c.(235-237)tcC>tcA	p.S79S	CLEC1A_uc001qxd.3_Silent_p.S36S|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	79					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GACCAGTATTGGAGAGCTGGT	0.383													T	10233990	G	T	10233990	2	4	144	1	0	0	0	0	0	0	0	1	3505	1335	47	5		5	CLEC1A	12	10233990	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		10233990	123617905	59	9676											
PRB1	5542	broad.mit.edu	37	12	11506753	11506753	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:11506753C>A	uc001qzw.1	-	2	321	c.284G>T	c.(283-285)gGa>gTa	p.G95V	PRB1_uc001qzu.1_Missense_Mutation_p.G95V|PRB1_uc001qzv.1_Missense_Mutation_p.G95V	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	95	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGTTTTCCTGGAGGAGA	0.607													A	11506753	C	A	11506753	3	1	144	1	0	0	0	0	1	0	0	0	12442	855	30	5	715	5	PRB1	12	11506753	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	1272763	11506753	122345142	60	9677											
ATP2B1	490	broad.mit.edu	37	12	90024361	90024361	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:90024361T>C	uc001tbh.3	-	4	1030	c.849A>G	c.(847-849)caA>caG	p.Q283Q	ATP2B1_uc001tbg.3_Silent_p.Q283Q	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	283					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAATTCCAGTTTGAGAATTTA	0.328													C	90024361	T	C	90024361	2	2	144	1	0	0	0	0	0	0	0	1	1139	1838	64	4		4	ATP2B1	12	90024361	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	78517608	90024361	43827534	61	9678											
IGF1	3479	broad.mit.edu	37	12	102869429	102869429	+	Missense_Mutation	SNP	A	A	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:102869429A>C	uc001tjp.4	-	1	431	c.212T>G	c.(211-213)tTt>tGt	p.F71C	IGF1_uc001tjn.2_Missense_Mutation_p.F55C|IGF1_uc001tjm.2_Missense_Mutation_p.F71C|IGF1_uc001tjo.2_Missense_Mutation_p.F71C	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	71	B.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACTGAAATAAAAGCCCCTGTC	0.537													C	102869429	A	C	102869429	3	2	144	1	0	0	0	0	1	0	0	0	7570	14	1	5	451	5	IGF1	12	102869429	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	12845068	102869429	30982466	62	9679											
ANAPC7	51434	broad.mit.edu	37	12	110825638	110825638	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:110825638G>A	uc001tqo.2	-	4	683	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	ANAPC7_uc001tqp.4_Nonsense_Mutation_p.Q228*	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GGCACGGTTTGGATCACATTC	0.463													A	110825638	G	A	110825638	4	1	144	1	0	0	0	0	0	1	0	0	606	1357	47	3	1149	3	ANAPC7	12	110825638	Nonsense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	7956209	110825638	23026257	63	9680											
PTPN11	5781	broad.mit.edu	37	12	112926900	112926900	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:112926900C>A	uc001ttx.3	+	12	1900	c.1520C>A	c.(1519-1521)aCa>aAa	p.T507K		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	511	Tyrosine-protein phosphatase.		G -> A (in JMML).|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia).		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.T507K(4)		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						ATGGTCCAGACAGAAGCACAG	0.478			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				A	112926900	C	A	112926900	3	1	144	1	0	0	0	0	1	0	0	0	12780	478	17	5	1570	5	PTPN11	12	112926900	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	2101262	112926900	20924995	64	9681											
RBM19	9904	broad.mit.edu	37	12	114383718	114383718	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:114383718C>A	uc009zwi.2	-	12	1685	c.1541G>T	c.(1540-1542)tGg>tTg	p.W514L	RBM19_uc001tvn.4_Missense_Mutation_p.W514L|RBM19_uc001tvm.3_Missense_Mutation_p.W514L	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	514					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			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)					TAGTGTGTTCCAGTTGTGAGA	0.542													A	114383718	C	A	114383718	3	1	144	1	0	0	0	0	1	0	0	0	13121	595	21	5	1389	5	RBM19	12	114383718	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	1456818	114383718	19468177	65	9682											
TCTN2	79867	broad.mit.edu	37	12	124175182	124175182	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:124175182G>A	uc001ufp.3	+	7	1122	c.994G>A	c.(994-996)Ggt>Agt	p.G332S	TCTN2_uc009zya.3_Missense_Mutation_p.G331S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	332					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		AGAACGAGATGGTATTATCAA	0.388													A	124175182	G	A	124175182	3	1	144	1	0	0	0	0	1	0	0	0	15720	1348	47	3	1024	3	TCTN2	12	124175182	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	9791464	124175182	9676713	66	9683											
NCOR2	9612	broad.mit.edu	37	12	124915195	124915195	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:124915195delG	uc021rga.1	-	8	1138	c.1021delC	c.(1021-1023)cgcfs	p.R341fs	NCOR2_uc021rgb.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbb.2_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbc.2_Frame_Shift_Del_p.R341fs|NCOR2_uc021rgc.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tba.2_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugk.1_Frame_Shift_Del_p.R341fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	341					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCTGCTTGCGGATCTCAGGG	0.672													-	124915195	G	-	124915195	7	5	144	1	0	1	0	1	0	0	0	0	10236	1116	39	0	6703	0	NCOR2	12	124915195	Frame_Shift_Del	DEL	G	TCGA-14-3476-01B-01D-1353-08	740013	124915195	8936700	67	9684											
HSPH1	10808	broad.mit.edu	37	13	31713139	31713139	+	Missense_Mutation	SNP	T	T	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr13:31713139T>A	uc001utl.3	-	14	2363	c.2092A>T	c.(2092-2094)Atg>Ttg	p.M698L	HSPH1_uc001utj.3_Missense_Mutation_p.M696L|HSPH1_uc001utk.3_Missense_Mutation_p.M652L|HSPH1_uc010aaw.3_Missense_Mutation_p.M655L|HSPH1_uc010tds.2_Missense_Mutation_p.M620L	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	696					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGACCTACCATTAATTCTTCC	0.313													A	31713139	T	A	31713139	3	1	144	1	0	0	0	0	1	0	0	0	7431	1493	52	5	506	5	HSPH1	13	31713139	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08		31713139	83456739	68	9685											
CCDC70	83446	broad.mit.edu	37	13	52439731	52439731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr13:52439731C>T	uc010tgr.1	-	0		c.489G>A			CCDC70_uc001vfu.4_Nonsense_Mutation_p.R73*|CCDC70_uc021rjv.1_Nonsense_Mutation_p.R73*			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GTGGACTTTCCGAGGCAAGAT	0.458													T	52439731	C	T	52439731	4	4	144	1	0	0	0	0	0	1	0	0	2843	644	23	2	219	2	CCDC70	13	52439731	Nonsense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	20726592	52439731	62730147	69	9686											
BCL11B	64919	broad.mit.edu	37	14	99641920	99641920	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr14:99641920G>A	uc001yga.3	-	3	1520	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	BCL11B_uc001ygb.3_Missense_Mutation_p.P347L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	418						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTGCGGGGGCGGCGTGCCGCC	0.687			T	TLX3	T-ALL								A	99641920	G	A	99641920	3	1	144	1	0	0	0	0	1	0	0	0	1364	1116	39	2	1435	2	BCL11B	14	99641920	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		99641920	7707620	70	9687											
GABRB3	2562	broad.mit.edu	37	15	26828530	26828530	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:26828530G>A	uc001zbb.3	-	5	764	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	GABRB3_uc021sgg.1_Missense_Mutation_p.L94F|GABRB3_uc021sgh.1_Missense_Mutation_p.L80F|GABRB3_uc001zaz.3_Missense_Mutation_p.L165F|GABRB3_uc001zba.3_Missense_Mutation_p.L165F	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	165					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATCTCCTGAGGTCCATCATG	0.453													A	26828530	G	A	26828530	3	1	144	1	0	0	0	0	1	0	0	0	6168	1000	35	3	948	3	GABRB3	15	26828530	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		26828530	75702862	71	9688											
ZNF770	54989	broad.mit.edu	37	15	35274803	35274803	+	Missense_Mutation	SNP	G	G	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:35274803G>C	uc001ziw.3	-	2	1187	c.833C>G	c.(832-834)tCt>tGt	p.S278C	ZNF770_uc021siy.1_Missense_Mutation_p.S278C	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S278T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTCTCCTCAGATTCACCAAT	0.388													C	35274803	G	C	35274803	3	2	144	1	0	0	0	0	1	0	0	0	18140	942	33	5	1246	5	ZNF770	15	35274803	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	8446273	35274803	67256589	72	9689											
UACA	55075	broad.mit.edu	37	15	70957092	70957092	+	Missense_Mutation	SNP	A	A	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:70957092A>T	uc002asr.3	-	16	4126	c.4022T>A	c.(4021-4023)cTc>cAc	p.L1341H	UACA_uc010uke.2_Missense_Mutation_p.L1232H|UACA_uc002asq.3_Missense_Mutation_p.L1328H	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1341						cytoskeleton|extracellular region		p.Q1341H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTGTAGGTGAGTTGGGAAAG	0.433													T	70957092	A	T	70957092	3	4	144	1	0	0	0	0	1	0	0	0	16821	304	11	5	240	5	UACA	15	70957092	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	35682289	70957092	31574300	73	9690											
C16orf45	89927	broad.mit.edu	37	16	15609227	15609227	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr16:15609227G>A	uc002ddo.3	+	1	358	c.172G>A	c.(172-174)Gca>Aca	p.A58T	C16orf45_uc002ddp.3_Missense_Mutation_p.A41T	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	58										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GCTGGAGATGGCAAAAATTCA	0.527													A	15609227	G	A	15609227	3	1	144	1	0	0	0	0	1	0	0	0	1814	1203	42	3	237	3	C16orf45	16	15609227	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		15609227	74745526	74	9691											
ATP2A1	487	broad.mit.edu	37	16	28913648	28913648	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr16:28913648G>A	uc002dro.1	+	16	2649	c.2465G>A	c.(2464-2466)cGg>cAg	p.R822Q	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R822Q|ATP2A1_uc002drp.1_Missense_Mutation_p.R697Q	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	822					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CGCCCCCCCCGGAGCCCCAAG	0.657													A	28913648	G	A	28913648	3	1	144	1	0	0	0	0	1	0	0	0	1136	1116	39	2	2531	2	ATP2A1	16	28913648	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	13304421	28913648	61441105	75	9692											
DHRS7C	201140	broad.mit.edu	37	17	9684903	9684903	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:9684903G>A	uc010vvb.2	-	1	176	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	DHRS7C_uc010cof.3_Missense_Mutation_p.R55W	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	55						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGAACACCCGAGCACACTCT	0.547													A	9684903	G	A	9684903	3	1	144	1	0	0	0	0	1	0	0	0	4497	1057	37	2	792	2	DHRS7C	17	9684903	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		9684903	71510307	76	9693											
MAP2K3	5606	broad.mit.edu	37	17	21206533	21206533	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:21206533G>A	uc002gys.3	+	6	820	c.555G>A	c.(553-555)tcG>tcA	p.S185S	MAP2K3_uc002gyt.3_Silent_p.S156S|MAP2K3_uc021tsq.1_Silent_p.S156S|MAP2K3_uc021tsr.1_Silent_p.S156S	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	185	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCAAGCTGTCGGTGATCCACA	0.622													A	21206533	G	A	21206533	2	1	144	1	0	0	0	0	0	0	0	1	9238	1103	39	2		2	MAP2K3	17	21206533	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	11521630	21206533	59988677	77	9694											
MYO18A	399687	broad.mit.edu	37	17	27422043	27422043	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:27422043C>A	uc002hdt.1	-	28	4578	c.4420G>T	c.(4420-4422)Gcc>Tcc	p.A1474S	MYO18A_uc010wbc.1_Missense_Mutation_p.A1016S|MYO18A_uc002hds.2_Missense_Mutation_p.A1016S|MYO18A_uc010csa.1_Missense_Mutation_p.A1474S|MYO18A_uc002hdu.1_Missense_Mutation_p.A1474S|MYO18A_uc010wbd.1_Missense_Mutation_p.A1143S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1474					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCCGCTGGGCCTCCTCATGC	0.627													A	27422043	C	A	27422043	3	1	144	1	0	0	0	0	1	0	0	0	10065	739	26	5	1800	5	MYO18A	17	27422043	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	6215510	27422043	53773167	78	9695											
IKZF3	22806	broad.mit.edu	37	17	37922611	37922611	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:37922611C>T	uc002hsu.3	-	7	1024	c.962G>A	c.(961-963)cGc>cAc	p.R321H	IKZF3_uc002htd.3_Missense_Mutation_p.R287H|IKZF3_uc010cwd.3_Missense_Mutation_p.R178H|IKZF3_uc002hsv.3_Missense_Mutation_p.R248H|IKZF3_uc010cwe.3_Missense_Mutation_p.R187H|IKZF3_uc010cwf.3_Missense_Mutation_p.R139H|IKZF3_uc010cwg.3_Missense_Mutation_p.R100H|IKZF3_uc002hsw.3_Missense_Mutation_p.R282H|IKZF3_uc002hsx.3_Missense_Mutation_p.R265H|IKZF3_uc002hsy.3_Missense_Mutation_p.R282H|IKZF3_uc002hsz.3_Missense_Mutation_p.R226H|IKZF3_uc002hta.3_Missense_Mutation_p.R243H|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.R234H|IKZF3_uc002htc.3_Missense_Mutation_p.R74H|IKZF3_uc010wel.2_Missense_Mutation_p.R74H	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	321				R -> C (in Ref. 1; AAF13493 and 2; CAC80427/CAC80428/CAC80429/CAC80430/ CAC80431).	B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			GACCAAGGGGCGCAGGGCTTC	0.547													T	37922611	C	T	37922611	3	4	144	1	0	0	0	0	1	0	0	0	7616	768	27	1	571	1	IKZF3	17	37922611	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	10500568	37922611	43272599	79	9696											
APCDD1	147495	broad.mit.edu	37	18	10471619	10471619	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr18:10471619G>A	uc002kom.4	+	2	689	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	112					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TATTATGGCAGCAACCGGTGC	0.532													A	10471619	G	A	10471619	3	1	144	1	0	0	0	0	1	0	0	0	765	971	34	3	345	3	APCDD1	18	10471619	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		10471619	67605629	80	9697											
MUC16	94025	broad.mit.edu	37	19	9084743	9084743	+	Silent	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:9084743G>T	uc002mkp.3	-	0	7276	c.7072C>A	c.(7072-7074)Cgg>Agg	p.R2358R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2358	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R2358P(1)|p.R2358L(1)		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						TTTGTTTTCCGTGCGTCAAGG	0.433													T	9084743	G	T	9084743	2	4	144	1	0	0	0	0	0	0	0	1	9973	1144	40	5		5	MUC16	19	9084743	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		9084743	50044240	81	9698											
SMARCA4	6597	broad.mit.edu	37	19	11136160	11136160	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:11136160C>T	uc010dxp.3	+	22	3504	c.3144C>T	c.(3142-3144)caC>caT	p.H1048H	SMARCA4_uc010dxo.3_Silent_p.H1048H|SMARCA4_uc002mqf.4_Silent_p.H1048H|SMARCA4_uc002mqg.1_Silent_p.H1048H|SMARCA4_uc010dxq.3_Silent_p.H1048H|SMARCA4_uc010dxr.3_Silent_p.H1048H|SMARCA4_uc002mqj.4_Silent_p.H1048H|SMARCA4_uc010dxs.3_Silent_p.H1048H|SMARCA4_uc010dxt.1_Silent_p.H268H|SMARCA4_uc002mqh.4_Silent_p.H171H|SMARCA4_uc002mqi.1_Silent_p.H251H	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1048					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCTGCAACCACCCCTACATGT	0.617			"F, N, Mis"		NSCLC								T	11136160	C	T	11136160	2	4	144	1	0	0	0	0	0	0	0	1	14770	506	18	3		3	SMARCA4	19	11136160	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	2051417	11136160	47992823	82	9699											
CCDC8	83987	broad.mit.edu	37	19	46915568	46915568	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:46915568G>A	uc002pep.3	-	0	1352	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	167						plasma membrane				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)		GCGGGCAGGCGGCGCGCTGGG	0.647													A	46915568	G	A	46915568	3	1	144	1	0	0	0	0	1	0	0	0	2853	1116	39	2	1120	2	CCDC8	19	46915568	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	35779408	46915568	12213415	83	9700											
PRKCG	5582	broad.mit.edu	37	19	54401216	54401216	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:54401216G>A	uc002qcq.1	+	9	1225	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	PRKCG_uc010yef.1_Silent_p.G285G|PRKCG_uc010yeg.1_Missense_Mutation_p.V315M|PRKCG_uc010yeh.1_Missense_Mutation_p.V202M	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	315				RVRM -> VSRT (in Ref. 3; AAA60102).	activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TCCACAGCGGGTGCGGATGGG	0.582													A	54401216	G	A	54401216	3	1	144	1	0	0	0	0	1	0	0	0	12512	1261	44	3	981	3	PRKCG	19	54401216	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	7485648	54401216	4727767	84	9701											
KIR3DL2	3811	broad.mit.edu	37	19	55378070	55378070	+	Missense_Mutation	SNP	C	C	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:55378070C>A	uc002qhl.4	+	8	1315	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	KIR3DL2_uc002qho.4_Missense_Mutation_p.P418T|KIR3DL2_uc010esh.3_Missense_Mutation_p.P401T			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	418					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TTCTCAGAGGCCCAAGACACC	0.522													A	55378070	C	A	55378070	3	1	144	1	0	0	0	0	1	0	0	0	8321	739	26	5	1286	5	KIR3DL2	19	55378070	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	976854	55378070	3750913	85	9702											
NLRP7	199713	broad.mit.edu	37	19	55451740	55451740	+	Silent	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:55451740G>A	uc002qih.4	-	3	523	c.447C>T	c.(445-447)gaC>gaT	p.D149D	NLRP7_uc010esk.3_Silent_p.D149D|NLRP7_uc002qig.4_Silent_p.D149D|NLRP7_uc002qii.4_Silent_p.D149D|NLRP7_uc010esl.3_Silent_p.D177D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	149							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGAGTGACGTCGTCATGGA	0.498													A	55451740	G	A	55451740	2	1	144	1	0	0	0	0	0	0	0	1	10482	1136	40	1		1	NLRP7	19	55451740	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	73670	55451740	3677243	86	9703											
NLRP4	147945	broad.mit.edu	37	19	56382210	56382210	+	Missense_Mutation	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:56382210T>C	uc002qmd.4	+	6	2794	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	NLRP4_uc002qmf.3_Missense_Mutation_p.L716P|NLRP4_uc010etf.3_Missense_Mutation_p.L566P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	791							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGCCACCTCAGCGAGCAG	0.498													C	56382210	T	C	56382210	3	2	144	1	0	0	0	0	1	0	0	0	10479	1551	54	4	2394	4	NLRP4	19	56382210	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	930470	56382210	2746773	87	9704											
SLC7A4	6545	broad.mit.edu	37	22	21384419	21384419	+	Missense_Mutation	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:21384419A>G	uc002zud.3	-	2	1272	c.1204T>C	c.(1204-1206)Tac>Cac	p.Y402H	SLC7A4_uc002zue.3_Missense_Mutation_p.Y402H	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	402					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACGAATGTGTAGGCCAGGAGT	0.657													G	21384419	A	G	21384419	3	3	144	1	0	0	0	0	1	0	0	0	14699	420	15	4	715	4	SLC7A4	22	21384419	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08		21384419	29920147	88	9705											
RRP7A	27341	broad.mit.edu	37	22	42910784	42910784	+	Silent	SNP	C	C	T	rs146741450	by1000genomes	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:42910784C>T	uc003bcp.3	-	3	1024	c.530_splice	c.e3-1	p.K177_splice	RRP7A_uc003bcq.3_Splice_Site_p.K154_splice	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	154							nucleotide binding|RNA binding	p.K154K(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CACTGATCCACTCTGAGGAAA	0.602													T	42910784	C	T	42910784	2	4	144	1	0	0	0	0	0	0	0	1	13689	579	20	3		3	RRP7A	22	42910784	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	21526365	42910784	8393782	89	9706											
MOV10L1	54456	broad.mit.edu	37	22	50596619	50596619	+	Missense_Mutation	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:50596619C>T	uc003bjj.3	+	22	3283	c.3200C>T	c.(3199-3201)aCg>aTg	p.T1067M	MOV10L1_uc003bjk.4_Missense_Mutation_p.T1067M|MOV10L1_uc011arp.2_Missense_Mutation_p.T1047M|MOV10L1_uc003bjl.3_Missense_Mutation_p.T194M|MOV10L1_uc003bjm.1_Missense_Mutation_p.T110M	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1067					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGCGTCATCACGCCCTACCGG	0.657													T	50596619	C	T	50596619	3	4	144	1	0	0	0	0	1	0	0	0	9719	536	19	1	3343	1	MOV10L1	22	50596619	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	7685835	50596619	707947	90	9707											
SHROOM2	357	broad.mit.edu	37	X	9905429	9905429	+	Silent	SNP	C	C	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:9905429C>T	uc004csu.1	+	6	3933	c.3843C>T	c.(3841-3843)ccC>ccT	p.P1281P	SHROOM2_uc004csv.2_Silent_p.P116P|SHROOM2_uc011mic.1_Silent_p.P116P|SHROOM2_uc004csw.1_Silent_p.P116P	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1281					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGGCTGAGCCCCAGCCCCTGG	0.642													T	9905429	C	T	9905429	2	4	144	1	0	0	0	0	0	0	0	1	14294	610	22	3		3	SHROOM2	23	9905429	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08		9905429	145365131	91	9708											
SRPX	8406	broad.mit.edu	37	X	38009054	38009054	+	Silent	SNP	A	A	G			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:38009054A>G	uc004ddy.2	-	9	1437	c.1305T>C	c.(1303-1305)ccT>ccC	p.P435P	SRPX_uc011mki.2_3'UTR|SRPX_uc004ddz.2_Silent_p.P415P|SRPX_uc011mkh.2_Silent_p.P376P	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	435					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACAGGGCCACAGGCATCACCA	0.502													G	38009054	A	G	38009054	2	3	144	1	0	0	0	0	0	0	0	1	15163	175	7	4		4	SRPX	23	38009054	Silent	SNP	A	TCGA-14-3476-01B-01D-1353-08	28103625	38009054	117261506	92	9709											
WDR45	11152	broad.mit.edu	37	X	48935362	48935362	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:48935362G>A	uc004dml.1	-	3	347	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	WDR45_uc011mmt.2_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.R9C|WDR45_uc004dmk.1_Missense_Mutation_p.R59C|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmp.1_Missense_Mutation_p.R59C|WDR45_uc011mmu.2_Missense_Mutation_p.R59C	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.	59					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGGTTGGAGCGGTGCAGCATC	0.607													A	48935362	G	A	48935362	3	1	144	1	0	0	0	0	1	0	0	0	17294	1116	39	2	942	2	WDR45	23	48935362	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	10926308	48935362	106335198	93	9710											
OPN1LW	5956	broad.mit.edu	37	X	153416186	153416186	+	Silent	SNP	T	T	C			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:153416186T>C	uc004fjz.4	+	1	204	c.171T>C	c.(169-171)agT>agC	p.S57S		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	57					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTCACCAGTGTCTGGATGA	0.587													C	153416186	T	C	153416186	2	2	144	1	0	0	0	0	0	0	0	1	10877	1693	59	4		4	OPN1LW	23	153416186	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	104480824	153416186	1854374	94	9711											
RPL10	6134	broad.mit.edu	37	X	153628824	153628824	+	Missense_Mutation	SNP	G	G	A			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:153628824G>A	uc004fkm.2	+	5	537	c.349G>A	c.(349-351)Ggt>Agt	p.G117S	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.G117S|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.G42S|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCATGCGAGGTGCCTTTGG	0.527													A	153628824	G	A	153628824	3	1	144	1	0	0	0	0	1	0	0	0	13554	1000	35	3	367	3	RPL10	23	153628824	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	212638	153628824	1641736	95	9712											
VAMP7	6845	broad.mit.edu	37	X	155130194	155130194	+	Missense_Mutation	SNP	G	G	T			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:155130194G>T	uc004fnr.3	+	4	554	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L	VAMP7_uc011naa.2_Missense_Mutation_p.V87L|VAMP7_uc011nab.2_Missense_Mutation_p.V25L|VAMP7_uc004fnt.3_Missense_Mutation_p.V85L|VAMP7_uc004fns.3_Missense_Mutation_p.V126L|VAMP7_uc011nac.2_Missense_Mutation_p.V59L	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	126	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTAGACAAAGTGATGGAGAC	0.358													T	155130194	G	T	155130194	3	4	144	1	0	0	0	0	1	0	0	0	17114	1029	36	5	390	5	VAMP7	23	155130194	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	1501370	155130194	140366	96	9713											
HSPG2	3339	broad.mit.edu	37	1	22211272	22211272	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:22211272C>T	uc009vqd.3	-	11	1535	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I	HSPG2_uc001bfj.3_Missense_Mutation_p.V499I	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	499	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGTTGTGGGACGAGCTCAAGG	0.667													T	22211272	C	T	22211272	3	4	145	1	0	0	0	0	1	0	0	0	7430	536	19	1	12024	1	HSPG2	1	22211272	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		22211272	227039349	1	9714											
DAB1	1600	broad.mit.edu	37	1	57535043	57535043	+	Missense_Mutation	SNP	T	T	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:57535043T>A	uc009vzx.1	-	7	973	c.653A>T	c.(652-654)aAc>aTc	p.N218I	DAB1_uc001cyt.1_Missense_Mutation_p.N218I|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Missense_Mutation_p.N218I	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	218					cell differentiation|nervous system development			p.E217*(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						CTGATAAATGTTTTCTTCCGT	0.423													A	57535043	T	A	57535043	3	1	145	1	0	0	0	0	1	0	0	0	4217	1725	60	5	1042	5	DAB1	1	57535043	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	35323771	57535043	191715578	2	9715											
GBP2	2634	broad.mit.edu	37	1	89575480	89575482	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:89575480_89575482delCTC	uc001dmz.1	-	9	1808_1810	c.1537_1539delGAG	c.(1537-1539)gagdel	p.E513del	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	513					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GTTCCATCATCTCCTCATTCTTC	0.404													-	89575482	CTC	-	89575480	7	5	145	1	0	1	0	1	0	0	0	0	6274	912	32	0	244	0	GBP2	1	89575480	In_Frame_Del	DEL	CTC	TCGA-14-4157-01A-01D-1353-08	32040437	89575480	159675141	3	9716											
DCLRE1B	64858	broad.mit.edu	37	1	114448263	114448263	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:114448263C>T	uc001eeg.3	+	0	349	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	AP4B1_uc001eeb.3_5'Flank|AP4B1_uc001eec.3_5'Flank|AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|AP4B1_uc010owq.2_5'Flank|DCLRE1B_uc001eeh.3_5'UTR|DCLRE1B_uc001eei.3_5'UTR	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	19					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGAGCCTGCGCCGGGCTGG	0.642								Other identified genes with known or suspected DNA repair function					T	114448263	C	T	114448263	3	4	145	1	0	0	0	0	1	0	0	0	4295	768	27	1	57	1	DCLRE1B	1	114448263	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	24872783	114448263	134802358	4	9717											
CASQ2	845	broad.mit.edu	37	1	116247851	116247851	+	Missense_Mutation	SNP	G	G	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:116247851G>C	uc001efx.4	-	8	1165	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V	CASQ2_uc010owu.2_Missense_Mutation_p.L230V	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	301					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGATGCTCAGATCGGGGTTG	0.547													C	116247851	G	C	116247851	3	2	145	1	0	0	0	0	1	0	0	0	2681	933	33	5	310	5	CASQ2	1	116247851	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	1799588	116247851	133002770	5	9718											
PRSS38	339501	broad.mit.edu	37	1	228004940	228004940	+	Silent	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:228004940C>T	uc001hrh.3	+	2	342	c.342C>T	c.(340-342)taC>taT	p.Y114Y		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	114	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGACATGTACGTAGGCCTCG	0.562													T	228004940	C	T	228004940	2	4	145	1	0	0	0	0	0	0	0	1	12627	547	19	1		1	PRSS38	1	228004940	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08	111757089	228004940	21245681	6	9719											
LYST	1130	broad.mit.edu	37	1	235866238	235866238	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:235866238C>T	uc001hxj.2	-	44	10358	c.10183G>A	c.(10183-10185)Gtt>Att	p.V3395I	LYST_uc001hxi.2_Missense_Mutation_p.V619I	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3395	BEACH.				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			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)			CGTCTCTGAACTGGATCTTCA	0.448													T	235866238	C	T	235866238	3	4	145	1	0	0	0	0	1	0	0	0	9128	565	20	3	1258	3	LYST	1	235866238	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	7861298	235866238	13384383	7	9720											
HEATR1	55127	broad.mit.edu	37	1	236749663	236749663	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:236749663C>A	uc001hyd.2	-	14	1957	c.1805G>T	c.(1804-1806)tGt>tTt	p.C602F		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	602					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGCAGCAAACATACAACCAC	0.358													A	236749663	C	A	236749663	3	1	145	1	0	0	0	0	1	0	0	0	7027	478	17	5	4753	5	HEATR1	1	236749663	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	883425	236749663	12500958	8	9721											
FOSL2	2355	broad.mit.edu	37	2	28635026	28635026	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:28635026C>T	uc002rma.3	+	3	1501	c.692C>T	c.(691-693)cCc>cTc	p.P231L	FOSL2_uc021vfg.1_Missense_Mutation_p.P223L|FOSL2_uc010ymi.2_Missense_Mutation_p.P192L	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	231					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GAGGACAGCCCCTCGTCCTCG	0.692													T	28635026	C	T	28635026	3	4	145	1	0	0	0	0	1	0	0	0	5988	623	22	3	706	3	FOSL2	2	28635026	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		28635026	214564347	9	9722											
THADA	63892	broad.mit.edu	37	2	43520122	43520122	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:43520122G>A	uc002rsw.4	-	31	5021	c.4669C>T	c.(4669-4671)Cgc>Tgc	p.R1557C	THADA_uc010far.3_Missense_Mutation_p.R752C|THADA_uc002rsx.4_Missense_Mutation_p.R1557C|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1557							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTTAGTGAGCGCACTTCAGGG	0.557													A	43520122	G	A	43520122	3	1	145	1	0	0	0	0	1	0	0	0	15837	1087	38	1	1220	1	THADA	2	43520122	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	14885096	43520122	199679251	10	9723											
FSHR	2492	broad.mit.edu	37	2	49190747	49190747	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:49190747C>T	uc002rww.3	-	9	1323	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	FSHR_uc010fbn.3_Missense_Mutation_p.A379T|FSHR_uc002rwx.3_Missense_Mutation_p.A343T	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	405					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			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)	TCAGCAAAGGCCAGGTTGCAC	0.458									Gonadal Dysgenesis, 46 XX				T	49190747	C	T	49190747	3	4	145	1	0	0	0	0	1	0	0	0	6073	739	26	3	878	3	FSHR	2	49190747	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	5670625	49190747	194008626	11	9724											
CTNNA2	1496	broad.mit.edu	37	2	80085194	80085194	+	Silent	SNP	A	A	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:80085194A>C	uc010ysh.2	+	2	359	c.354A>C	c.(352-354)gtA>gtC	p.V118V	CTNNA2_uc010yse.2_Silent_p.V118V|CTNNA2_uc010ysf.2_Silent_p.V118V|CTNNA2_uc010ysg.2_Silent_p.V118V	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	118					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTCGTCGGTAAAGCGCGGCA	0.582													C	80085194	A	C	80085194	2	2	145	1	0	0	0	0	0	0	0	1	4013	349	13	5		5	CTNNA2	2	80085194	Silent	SNP	A	TCGA-14-4157-01A-01D-1353-08	30894447	80085194	163114179	12	9725											
SLC9A2	6549	broad.mit.edu	37	2	103274233	103274233	+	Missense_Mutation	SNP	G	G	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:103274233G>C	uc002tca.3	+	1	642	c.500G>C	c.(499-501)gGc>gCc	p.G167A		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	167						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.I166I(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAGAACATTGGCACGATTTTC	0.493													C	103274233	G	C	103274233	3	2	145	1	0	0	0	0	1	0	0	0	14712	1203	42	5	506	5	SLC9A2	2	103274233	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	23189039	103274233	139925140	13	9726											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	145	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	105838879	209113112	34086261	14	9727											
GIGYF2	26058	broad.mit.edu	37	2	233613794	233613794	+	Splice_Site	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:233613794T>C	uc002vtj.4	+	6	534	c.267_splice	c.e6+2	p.Q89_splice	GIGYF2_uc010zmj.1_Splice_Site_p.Q89_splice|GIGYF2_uc002vtg.2_Splice_Site_p.Q89_splice|GIGYF2_uc002vti.4_Splice_Site_p.Q89_splice|GIGYF2_uc002vtk.4_Splice_Site_p.Q89_splice|GIGYF2_uc002vth.4_Splice_Site_p.Q89_splice|GIGYF2_uc010zmk.2_Splice_Site	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	89					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAGAACAGGTTTGTGATTAG	0.433													C	233613794	T	C	233613794	5	2	145	1	0	0	0	0	0	0	1	0	6378	1739	60	4	279	4	GIGYF2	2	233613794	Splice_Site	SNP	T	TCGA-14-4157-01A-01D-1353-08	24500682	233613794	9585579	15	9728											
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:53220653delG	uc003dgl.3	+	13	1647	c.1294delG	c.(1294-1296)gggfs	p.G432fs	PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	432	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602													-	53220653	G	-	53220653	7	5	145	1	0	1	0	1	0	0	0	0	12509	1116	39	0	1340	0	PRKCD	3	53220653	Frame_Shift_Del	DEL	G	TCGA-14-4157-01A-01D-1353-08		53220653	144801777	16	9729											
RAP2B	5912	broad.mit.edu	37	3	152880606	152880606	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:152880606A>G	uc003ezr.3	+	0	578	c.124A>G	c.(124-126)Aag>Gag	p.K42E		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	42					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTTTTACCGCAAGGAGATTGA	0.627													G	152880606	A	G	152880606	3	3	145	1	0	0	0	0	1	0	0	0	13041	131	5	4	126	4	RAP2B	3	152880606	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	99659953	152880606	45141824	17	9730											
MCCC1	56922	broad.mit.edu	37	3	182775185	182775185	+	Missense_Mutation	SNP	C	C	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:182775185C>G	uc003fle.3	-	7	924	c.787G>C	c.(787-789)Gat>Cat	p.D263H	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.D146H|MCCC1_uc003flg.3_Missense_Mutation_p.D154H|MCCC1_uc011bqp.1_Missense_Mutation_p.D216H|MCCC1_uc011bqq.1_Missense_Mutation_p.D154H	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	263	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCATGGTGATCACCAAACACC	0.413													G	182775185	C	G	182775185	3	3	145	1	0	0	0	0	1	0	0	0	9374	826	29	5	1438	5	MCCC1	3	182775185	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	29894579	182775185	15247245	18	9731											
ZNF718	152687	broad.mit.edu	37	4	59387	59387	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:59387C>A	uc003fzv.1	+	1	224	c.68C>A	c.(67-69)cCt>cAt	p.P23H	ZNF718_uc003fzt.4_Missense_Mutation_p.P23H|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	23	KRAB.			I -> T (in Ref. 1; AAI04028).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P23H(1)					all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTCTGGACCCTGCCCAGCAG	0.423													A	59387	C	A	59387	3	1	145	1	0	0	0	0	1	0	0	0	18117	681	24	5	74	5	ZNF718	4	59387	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		59387	191094889	19	9732											
MTHFD2L	441024	broad.mit.edu	37	4	75065528	75065528	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:75065528A>G	uc011cbk.2	+	3	496	c.469A>G	c.(469-471)Aca>Gca	p.T157A	MTHFD2L_uc011cbj.2_Missense_Mutation_p.T99A|MTHFD2L_uc003hhn.1_Missense_Mutation_p.T99A	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	99					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TGATGAGCGAACAATATGCAA	0.328													G	75065528	A	G	75065528	3	3	145	1	0	0	0	0	1	0	0	0	9930	43	2	4	483	4	MTHFD2L	4	75065528	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	75006141	75065528	116088748	20	9733											
CDKN2AIP	55602	broad.mit.edu	37	4	184367366	184367366	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:184367366A>G	uc003ivp.1	+	2	691	c.529A>G	c.(529-531)Acg>Gcg	p.T177A	CDKN2AIP_uc003ivq.1_5'UTR	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	177	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	p.T177T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACAGTTCAACGTGTATAGG	0.473													G	184367366	A	G	184367366	3	3	145	1	0	0	0	0	1	0	0	0	3162	43	2	4	539	4	CDKN2AIP	4	184367366	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	109301838	184367366	6786910	21	9734											
TAF7	6879	broad.mit.edu	37	5	140698719	140698719	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr5:140698719C>A	uc003ljg.3	-	0	1633	c.893G>T	c.(892-894)aGg>aTg	p.R298M		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	298					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	p.D297H(2)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTTTTGCCCTGTCCTGGGT	0.453													A	140698719	C	A	140698719	3	1	145	1	0	0	0	0	1	0	0	0	15529	681	24	5	160	5	TAF7	5	140698719	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		140698719	40216541	22	9735											
CCNG1	900	broad.mit.edu	37	5	162868235	162868235	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr5:162868235A>G	uc003lzb.3	+	2	650	c.416A>G	c.(415-417)aAg>aGg	p.K139R	CCNG1_uc011dek.1_Missense_Mutation_p.K3R|CCNG1_uc011del.2_Missense_Mutation_p.K3R|CCNG1_uc003lzc.3_Non-coding_Transcript	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.	139					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		AGAATGGAAAAGATTGTATTG	0.378													G	162868235	A	G	162868235	3	3	145	1	0	0	0	0	1	0	0	0	2923	72	3	4	422	4	CCNG1	5	162868235	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	22169516	162868235	18047025	23	9736											
OR2J3	442186	broad.mit.edu	37	6	29080438	29080438	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:29080438G>A	uc011dll.2	+	0	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTTTCATTCCGGCCATGTGCA	0.458													A	29080438	G	A	29080438	2	1	145	1	0	0	0	0	0	0	0	1	11004	1103	39	2		2	OR2J3	6	29080438	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08		29080438	142034629	24	9737											
DNAH8	1769	broad.mit.edu	37	6	38783392	38783392	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:38783392T>C	uc021yzh.1	+	25	3591	c.3482T>C	c.(3481-3483)gTg>gCg	p.V1161A	DNAH8_uc003ooe.2_Missense_Mutation_p.V944A	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						ACTACTGACGTGACCCATCAA	0.448													C	38783392	T	C	38783392	3	2	145	1	0	0	0	0	1	0	0	0	4607	1696	59	4	2917	4	DNAH8	6	38783392	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	9702954	38783392	132331675	25	9738											
CD2AP	23607	broad.mit.edu	37	6	47512403	47512403	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:47512403G>A	uc003oyw.3	+	3	837	c.381G>A	c.(379-381)ctG>ctA	p.L127L		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	127	Interaction with ANLN and localization to the midbody.|SH3 2.				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			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)			AGGATGAACTGGAGCTGAAAG	0.313													A	47512403	G	A	47512403	2	1	145	1	0	0	0	0	0	0	0	1	2994	1335	47	3		3	CD2AP	6	47512403	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08	8729011	47512403	123602664	26	9739											
LPA	4018	broad.mit.edu	37	6	160977190	160977190	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:160977190G>A	uc003qtl.3	-	30	4960	c.4840C>T	c.(4840-4842)Cgg>Tgg	p.R1614W		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4122	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.R1614Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAGCACTGCCGGACCACAGGG	0.463													A	160977190	G	A	160977190	3	1	145	1	0	0	0	0	1	0	0	0	8903	1115	39	2	1322	2	LPA	6	160977190	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	113464787	160977190	10137877	27	9740											
ZNF12	7559	broad.mit.edu	37	7	6737438	6737438	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:6737438G>A	uc003sqt.1	-	2	574	c.20C>T	c.(19-21)cCa>cTa	p.P7L	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.P7L	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	7					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAATGACACTGGCCCCTGAAA	0.493													A	6737438	G	A	6737438	3	1	145	1	0	0	0	0	1	0	0	0	17715	1348	47	3	2085	3	ZNF12	7	6737438	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08		6737438	152401225	28	9741											
POM121C	100101267	broad.mit.edu	37	7	75070792	75070792	+	Missense_Mutation	SNP	A	A	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:75070792A>T	uc003udk.4	-	3					POM121C_uc003udl.1_Non-coding_Transcript|POM121C_uc010lde.1_Missense_Mutation_p.S237T	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.						mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTGCGAGGGGACAGCACAGCC	0.527													T	75070792	A	T	75070792	3	4	145	1	0	0	0	0	1	0	0	0	12240	290	10	5		5	POM121C	7	75070792	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	68333354	75070792	84067871	29	9742											
TRRAP	8295	broad.mit.edu	37	7	98588209	98588209	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:98588209G>A	uc003upp.3	+	62	9944	c.9735G>A	c.(9733-9735)tcG>tcA	p.S3245S	TRRAP_uc011kis.2_Silent_p.S3216S|TRRAP_uc003upr.3_Silent_p.S2933S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3245	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTTGGCTCGGAGGGAAAGC	0.527													A	98588209	G	A	98588209	2	1	145	1	0	0	0	0	0	0	0	1	16598	1103	39	2		2	TRRAP	7	98588209	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08	23517417	98588209	60550454	30	9743											
RP1	6101	broad.mit.edu	37	8	55537403	55537403	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr8:55537403A>G	uc003xsd.1	+	3	1109	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	321					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			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)			TGATATTGAGAAATCAATTAT	0.323													G	55537403	A	G	55537403	3	3	145	1	0	0	0	0	1	0	0	0	13532	247	9	4	971	4	RP1	8	55537403	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08		55537403	90826619	31	9744											
ARHGAP39	80728	broad.mit.edu	37	8	145758601	145758601	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr8:145758601G>A	uc003zds.1	-	9	3352	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	ARHGAP39_uc011llk.1_Missense_Mutation_p.R902C|ARHGAP39_uc003zdt.1_Missense_Mutation_p.R902C	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	902	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCGGGGTAGCGCTCTCTCTGC	0.647													A	145758601	G	A	145758601	3	1	145	1	0	0	0	0	1	0	0	0	884	1087	38	1	563	1	ARHGAP39	8	145758601	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	90221198	145758601	605421	32	9745											
OBP2A	29991	broad.mit.edu	37	9	138438640	138438640	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr9:138438640A>G	uc004cgc.3	+	1	131	c.89A>G	c.(88-90)tAc>tGc	p.Y30C	OBP2A_uc004cgb.3_Missense_Mutation_p.Y30C|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Intron			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	30					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.Y30Y(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGGACCTGGTACGTGAAGGCC	0.607													G	138438640	A	G	138438640	3	3	145	1	0	0	0	0	1	0	0	0	10810	391	14	4	95	4	OBP2A	9	138438640	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08		138438640	2774791	33	9746											
NMT2	9397	broad.mit.edu	37	10	15183429	15183429	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:15183429G>A	uc001inz.1	-	1	322	c.238C>T	c.(238-240)Cct>Tct	p.P80S	NMT2_uc001ioa.1_Silent_p.S52S|NMT2_uc010qbz.1_5'UTR	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	80					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ACTTTCGAAGGCTGCTGAATT	0.443													A	15183429	G	A	15183429	3	1	145	1	0	0	0	0	1	0	0	0	10504	1203	42	3	1302	3	NMT2	10	15183429	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08		15183429	120351318	34	9747											
MYOZ1	58529	broad.mit.edu	37	10	75399754	75399754	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:75399754C>T	uc001jur.3	-	1	387	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	8					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TTATTAGGGGCCGGGGTTCCT	0.542													T	75399754	C	T	75399754	3	4	145	1	0	0	0	0	1	0	0	0	10095	739	26	3	897	3	MYOZ1	10	75399754	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	60216325	75399754	60134993	35	9748											
EBF3	253738	broad.mit.edu	37	10	131676050	131676050	+	Silent	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:131676050T>C	uc021qav.1	-	6	677	c.576A>G	c.(574-576)cgA>cgG	p.R192R	EBF3_uc001lki.2_Silent_p.R206R	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	206					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCCGCATATCTCGAGGGTTGC	0.368													C	131676050	T	C	131676050	2	2	145	1	0	0	0	0	0	0	0	1	4882	1538	54	4		4	EBF3	10	131676050	Silent	SNP	T	TCGA-14-4157-01A-01D-1353-08	56276296	131676050	3858697	36	9749											
TEAD1	7003	broad.mit.edu	37	11	12902599	12902599	+	Splice_Site	SNP	G	G	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:12902599G>C	uc021qdx.1	+	7	1132	c.512_splice	c.e7+1	p.D171_splice	TEAD1_uc001mkk.4_Splice_Site_p.D75_splice|TEAD1_uc009ygl.3_Splice_Site_p.D50_splice	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	171	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTCACAAGAGTAAGTCTGAG	0.547													C	12902599	G	C	12902599	5	2	145	1	0	0	0	0	0	0	1	0	15735	1043	36	5	531	5	TEAD1	11	12902599	Splice_Site	SNP	G	TCGA-14-4157-01A-01D-1353-08		12902599	122103917	37	9750											
OR4C15	81309	broad.mit.edu	37	11	55322827	55322827	+	Missense_Mutation	SNP	C	C	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:55322827C>G	uc010rig.2	+	0	1045	c.1045C>G	c.(1045-1047)Cag>Gag	p.Q349E		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGAAGTAAAACAGGCCATGAG	0.328										HNSCC(20;0.049)			G	55322827	C	G	55322827	3	3	145	1	0	0	0	0	1	0	0	0	11048	479	17	5	1047	5	OR4C15	11	55322827	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	42420228	55322827	79683689	38	9751											
LRFN4	78999	broad.mit.edu	37	11	66626230	66626230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:66626230delG	uc001ojr.3	+	0	1355	c.1015delG	c.(1015-1017)gggfs	p.G339fs	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Frame_Shift_Del_p.G339fs	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	339	Ig-like.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						CTTAGAGATTGGGGTGACCGG	0.677													-	66626230	G	-	66626230	7	5	145	1	0	1	0	1	0	0	0	0	8940	1348	47	0	1017	0	LRFN4	11	66626230	Frame_Shift_Del	DEL	G	TCGA-14-4157-01A-01D-1353-08	11303403	66626230	68380286	39	9752											
KRT80	144501	broad.mit.edu	37	12	52565281	52565281	+	Silent	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:52565281C>T	uc001rzw.3	-	6	1416	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K	KRT80_uc001rzy.3_3'UTR|KRT80_uc001rzx.3_Silent_p.K420K	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	420						keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GGGAGGGGGCCTTGGAGAGGC	0.542													T	52565281	C	T	52565281	2	4	145	1	0	0	0	0	0	0	0	1	8494	680	24	3		3	KRT80	12	52565281	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08		52565281	81286614	40	9753											
LRIG3	121227	broad.mit.edu	37	12	59271381	59271381	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:59271381G>A	uc001sqr.3	-	14	2583	c.2337C>T	c.(2335-2337)aaC>aaT	p.N779N	LRIG3_uc009zqh.3_Silent_p.N719N|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	779	Ig-like C2-type 3.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGAGGCGCACGTTTCCTCTCT	0.532			T	ROS1	NSCLC								A	59271381	G	A	59271381	2	1	145	1	0	0	0	0	0	0	0	1	8946	1136	40	1		1	LRIG3	12	59271381	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08	6706100	59271381	74580514	41	9754											
ANKLE2	23141	broad.mit.edu	37	12	133327271	133327272	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:133327271_133327272delGA	uc001ukx.2	-	2	871_872	c.804_805delTC	c.(802-807)tctcctfs	p.S268fs	ANKLE2_uc001uky.3_Frame_Shift_Del_p.S206fs	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	268						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTTTTCACAGGAGACAGTGGTA	0.426													-	133327272	GA	-	133327271	7	5	145	1	0	1	0	1	0	0	0	0	633	1174	41	0	2055	0	ANKLE2	12	133327271	Frame_Shift_Del	DEL	GA	TCGA-14-4157-01A-01D-1353-08	74055890	133327271	524624	42	9755											
C14orf21	161424	broad.mit.edu	37	14	24769334	24769334	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:24769334C>A	uc001wol.1	+	0	237	c.174C>A	c.(172-174)agC>agA	p.S58R	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	58							RNA binding	p.S58R(2)		breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		CGCACCTGAGCCCGGAAGCTC	0.662													A	24769334	C	A	24769334	3	1	145	1	0	0	0	0	1	0	0	0	1769	738	26	5	176	5	C14orf21	14	24769334	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		24769334	82580206	43	9756											
C14orf101	54916	broad.mit.edu	37	14	57075891	57075891	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:57075891A>G	uc001xcm.3	+	5	826	c.704A>G	c.(703-705)cAc>cGc	p.H235R	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Missense_Mutation_p.H235R|C14orf101_uc010aot.1_Missense_Mutation_p.H235R|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	235						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CCCTATGTCCACCTTCCCATC	0.488													G	57075891	A	G	57075891	3	3	145	1	0	0	0	0	1	0	0	0	1734	159	6	4	726	4	C14orf101	14	57075891	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	32306557	57075891	50273649	44	9757											
PAPOLA	10914	broad.mit.edu	37	14	96986512	96986512	+	Missense_Mutation	SNP	T	T	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:96986512T>G	uc001yfq.3	+	1	346	c.129T>G	c.(127-129)atT>atG	p.I43M	PAPOLA_uc001yfp.3_Missense_Mutation_p.I43M|PAPOLA_uc001yfo.3_Missense_Mutation_p.I43M|PAPOLA_uc001yfr.3_Missense_Mutation_p.I43M|PAPOLA_uc010twv.2_Missense_Mutation_p.I43M|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	43					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGAAACTAATTGAGACATTGA	0.408													G	96986512	T	G	96986512	3	3	145	1	0	0	0	0	1	0	0	0	11429	1800	63	5	135	5	PAPOLA	14	96986512	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	39910621	96986512	10363028	45	9758											
WARS	7453	broad.mit.edu	37	14	100808747	100808747	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:100808747C>A	uc001yhh.1	-	8	1482	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	WARS_uc001yhi.1_Missense_Mutation_p.Q326H|WARS_uc001yhg.2_Missense_Mutation_p.Q367H|WARS_uc001yhl.1_Missense_Mutation_p.Q367H|WARS_uc001yhk.1_Missense_Mutation_p.Q326H	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	367					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	p.Q367H(2)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TGGTTTTGATCTGCTTGGCCG	0.622													A	100808747	C	A	100808747	3	1	145	1	0	0	0	0	1	0	0	0	17246	912	32	5	326	5	WARS	14	100808747	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	3822235	100808747	6540793	46	9759											
SPTBN5	51332	broad.mit.edu	37	15	42185109	42185109	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:42185109C>T	uc001zos.3	-	2	595	c.262G>A	c.(262-264)Gcc>Acc	p.A88T		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	123	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGAGGAAGGCCAGAGCTCGG	0.687													T	42185109	C	T	42185109	3	4	145	1	0	0	0	0	1	0	0	0	15121	739	26	3	10921	3	SPTBN5	15	42185109	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		42185109	60346283	47	9760											
PDIA3	2923	broad.mit.edu	37	15	44055362	44055362	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:44055362C>T	uc001zsu.3	+	4	708	c.560C>T	c.(559-561)aCg>aTg	p.T187M	PDIA3_uc010bdp.3_Missense_Mutation_p.T167M|PDIA3_uc010ued.2_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	187					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TTTGCACATACGAATGTTGAG	0.408													T	44055362	C	T	44055362	3	4	145	1	0	0	0	0	1	0	0	0	11669	536	19	1	578	1	PDIA3	15	44055362	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	1870253	44055362	58476030	48	9761											
ADAMTSL3	57188	broad.mit.edu	37	15	84442304	84442304	+	Silent	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:84442304C>T	uc002bjz.4	+	3	443	c.219C>T	c.(217-219)gaC>gaT	p.D73D	ADAMTSL3_uc002bjy.1_Silent_p.D73D|ADAMTSL3_uc010bmt.1_Silent_p.D73D	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	73						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGATGAAGACAAAGATGGCA	0.438													T	84442304	C	T	84442304	2	4	145	1	0	0	0	0	0	0	0	1	276	477	17	3		3	ADAMTSL3	15	84442304	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08	40386942	84442304	18089088	49	9762											
ZFHX3	463	broad.mit.edu	37	16	72831003	72831003	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr16:72831003T>C	uc002fck.3	-	8	6251	c.5578A>G	c.(5578-5580)Ata>Gta	p.I1860V	ZFHX3_uc002fcl.3_Missense_Mutation_p.I946V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1860					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGGGCTATAGAGAGTTGG	0.532													C	72831003	T	C	72831003	3	2	145	1	0	0	0	0	1	0	0	0	17631	1406	49	4	5541	4	ZFHX3	16	72831003	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08		72831003	17523750	50	9763											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	145	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		7578406	73616804	51	9764											
TP53	7157	broad.mit.edu	37	17	7578460	7578460	+	Missense_Mutation	SNP	A	A	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:7578460A>C	uc002gim.2	-	4	664	c.470T>G	c.(469-471)gTc>gGc	p.V157G	TP53_uc002gig.1_Missense_Mutation_p.V157G|TP53_uc002gih.3_Missense_Mutation_p.V157G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V25G|TP53_uc010cnf.1_Missense_Mutation_p.V25G|TP53_uc002gii.1_Missense_Mutation_p.V25G|TP53_uc010cni.1_Missense_Mutation_p.V157G|TP53_uc010cnh.1_Missense_Mutation_p.V157G|TP53_uc002gij.2_Missense_Mutation_p.V157G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V64G|TP53_uc002gio.2_Missense_Mutation_p.V25G|TP53_uc010vug.2_Missense_Mutation_p.V118G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V157F(151)|p.R156P(24)|p.V157D(16)|p.V157G(14)|p.R156fs*14(11)|p.V157I(10)|p.R156H(10)|p.0?(8)|p.V157L(6)|p.V157V(5)|p.R156_I162delRVRAMAI(4)|p.V157del(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.V157_C176del20(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156_V157del(2)|p.V157A(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.T155fs*23(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157fs*24(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R156fs*20(2)|p.R156C(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.T155_R156delTR(1)|p.R156_V157insV(1)|p.R156del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.G154_R156delGTR(1)|p.V157fs*23(1)|p.V157fs*25(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)		CATGGCGCGGACGCGGGTGCC	0.617		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)			C	7578460	A	C	7578460	3	2	145	1	0	0	0	0	1	0	0	0	16378	275	10	5	828	5	TP53	17	7578460	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	54	7578460	73616750	52	9765											
ZNF207	7756	broad.mit.edu	37	17	30696410	30696410	+	Missense_Mutation	SNP	A	A	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:30696410A>G	uc010csz.3	+	11	1617	c.1270A>G	c.(1270-1272)Atg>Gtg	p.M424V	ZNF207_uc002hhj.4_Missense_Mutation_p.M421V|ZNF207_uc002hhh.4_Missense_Mutation_p.M405V|ZNF207_uc002hhi.4_Missense_Mutation_p.M390V|ZNF207_uc002hhk.1_Missense_Mutation_p.M421V|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AATTGGAGGTATGATGCCACC	0.488													G	30696410	A	G	30696410	3	3	145	1	0	0	0	0	1	0	0	0	17762	449	16	4	1303	4	ZNF207	17	30696410	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	23117950	30696410	50498800	53	9766											
TAF15	8148	broad.mit.edu	37	17	34171636	34171636	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:34171636G>A	uc002hkd.3	+	14	1419	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	TAF15_uc002hkc.3_Missense_Mutation_p.G442S	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	445	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		aagtgggggcggctatggtgg	0.637			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								A	34171636	G	A	34171636	3	1	145	1	0	0	0	0	1	0	0	0	15515	1116	39	2	1391	2	TAF15	17	34171636	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	3475226	34171636	47023574	54	9767											
NR1D1	9572	broad.mit.edu	37	17	38253028	38253028	+	Silent	SNP	C	C	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:38253028C>G	uc002htz.2	-	2	1001	c.375G>C	c.(373-375)ctG>ctC	p.L125L	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_5'UTR	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	125					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CCATGCCATTCAGCTCTGTGG	0.622													G	38253028	C	G	38253028	2	3	145	1	0	0	0	0	0	0	0	1	10615	813	29	5		5	NR1D1	17	38253028	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08	4081392	38253028	42942182	55	9768											
FBF1	85302	broad.mit.edu	37	17	73922854	73922854	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:73922854T>C	uc002jqc.3	-	8	812	c.538A>G	c.(538-540)Aca>Gca	p.T180A	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Missense_Mutation_p.T170A|FBF1_uc002jqd.1_Missense_Mutation_p.T180A	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	180										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCTCTCACTGTGCTGGGGCTC	0.512													C	73922854	T	C	73922854	3	2	145	1	0	0	0	0	1	0	0	0	5695	1696	59	4	2947	4	FBF1	17	73922854	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	35669826	73922854	7272356	56	9769											
OR10H2	26538	broad.mit.edu	37	19	15839024	15839024	+	Silent	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:15839024G>A	uc002nbm.2	+	0	191	c.171G>A	c.(169-171)acG>acA	p.T57T		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCCTCCACACGCCCATGTACC	0.612													A	15839024	G	A	15839024	2	1	145	1	0	0	0	0	0	0	0	1	10906	1074	38	1		1	OR10H2	19	15839024	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08		15839024	43289959	57	9770											
LRP3	4037	broad.mit.edu	37	19	33697915	33697915	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:33697915C>T	uc010edh.3	+	6	1840	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	LRP3_uc002nuk.4_Missense_Mutation_p.R457C	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	583					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGAATCTTCGCACAGCCAT	0.721													T	33697915	C	T	33697915	3	4	145	1	0	0	0	0	1	0	0	0	8958	884	31	2	1773	2	LRP3	19	33697915	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	17858891	33697915	25431068	58	9771											
FFAR2	2867	broad.mit.edu	37	19	35940825	35940825	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:35940825C>T	uc002nzg.2	+	1	289	c.209C>T	c.(208-210)gCg>gTg	p.A70V	FFAR2_uc010eea.3_Missense_Mutation_p.A70V	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	70						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			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)			ATCGAGGCTGCGTCGAACTTC	0.637													T	35940825	C	T	35940825	3	4	145	1	0	0	0	0	1	0	0	0	5828	768	27	1	211	1	FFAR2	19	35940825	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	2242910	35940825	23188158	59	9772											
ZNF283	284349	broad.mit.edu	37	19	44351487	44351487	+	Nonsense_Mutation	SNP	T	T	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:44351487T>A	uc002oxr.4	+	6	1002	c.734T>A	c.(733-735)tTa>tAa	p.L245*	ZNF283_uc002oxp.4_Nonsense_Mutation_p.L106*	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAGAATTATTTAAGTGCCTAT	0.408													A	44351487	T	A	44351487	4	1	145	1	0	0	0	0	0	1	0	0	17817	1764	61	5	748	5	ZNF283	19	44351487	Nonsense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	8410662	44351487	14777496	60	9773											
SAE1	10055	broad.mit.edu	37	19	47700626	47700626	+	Missense_Mutation	SNP	C	C	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:47700626C>A	uc002pgc.3	+	6	978	c.870C>A	c.(868-870)gaC>gaA	p.D290E	SAE1_uc002pgd.3_Intron|SAE1_uc010ekx.3_Intron|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Missense_Mutation_p.D116E|SAE1_uc002pge.3_Missense_Mutation_p.D226E	NM_005500	NP_005491	Q9UBE0	SAE1_HUMAN	Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.	290					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCTGAGGACTTTGTCAGGT	0.398													A	47700626	C	A	47700626	3	1	145	1	0	0	0	0	1	0	0	0	13805	564	20	5	896	5	SAE1	19	47700626	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	3349139	47700626	11428357	61	9774											
PRIC285	85441	broad.mit.edu	37	20	62200951	62200951	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62200951C>T	uc002yfm.2	-	4	1530	c.638G>A	c.(637-639)gGc>gAc	p.G213D	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	213					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TGGCGGGAGGCCGGGAGCCAC	0.697													T	62200951	C	T	62200951	3	4	145	1	0	0	0	0	1	0	0	0	12485	739	26	3	7398	3	PRIC285	20	62200951	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		62200951	824569	62	9775											
UCKL1	54963	broad.mit.edu	37	20	62577191	62577191	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62577191A>T	uc010gkn.3	-	3	624	c.549T>A	c.(547-549)taT>taA	p.Y183*	UCKL1_uc011abm.2_Nonsense_Mutation_p.Y168*|UCKL1_uc011abn.2_Non-coding_Transcript|UCKL1_uc011abo.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	183					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGTGAAGTCATAAATGGGCA	0.587													T	62577191	A	T	62577191	4	4	145	1	0	0	0	0	0	1	0	0	16922	224	8	5	1145	5	UCKL1	20	62577191	Nonsense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	376240	62577191	448329	63	9776											
PRPF6	24148	broad.mit.edu	37	20	62648082	62648082	+	Missense_Mutation	SNP	G	G	A			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62648082G>A	uc002yho.3	+	11	1699	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	PRPF6_uc002yhp.3_Missense_Mutation_p.E511K	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	511					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TCAGGATGCCGAGGAATGTGA	0.512													A	62648082	G	A	62648082	3	1	145	1	0	0	0	0	1	0	0	0	12574	1059	37	2	1577	2	PRPF6	20	62648082	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	70891	62648082	377438	64	9777											
MKL1	57591	broad.mit.edu	37	22	40814732	40814737	+	In_Frame_Del	DEL	GGGGGC	GGGGGC	-	rs144888766	by1000genomes	TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr22:40814732_40814737delGGGGGC	uc003ayv.1	-	8	1912_1917	c.1705_1710delGCCCCC	c.(1705-1710)gcccccdel	p.AP569del	MKL1_uc010gyf.1_In_Frame_Del_p.AP519del|MKL1_uc003ayw.1_In_Frame_Del_p.AP569del|MKL1_uc010gye.1_In_Frame_Del_p.AP569del	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	569	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGTGCCGAGgggggcgggggcgggg	0.723			T	RBM15	acute megakaryocytic leukemia								-	40814737	GGGGGC	-	40814732	7	5	145	1	0	1	0	1	0	0	0	0	9601	1219	43	0	1101	0	MKL1	22	40814732	In_Frame_Del	DEL	GGGGGC	TCGA-14-4157-01A-01D-1353-08		40814732	10489834	65	9778											
KIAA2022	340533	broad.mit.edu	37	X	73959989	73959989	+	Missense_Mutation	SNP	T	T	C			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:73959989T>C	uc004eby.3	-	2	5020	c.4403A>G	c.(4402-4404)gAg>gGg	p.E1468G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1468					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.E1468G(2)		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						CTGTTCTCGCTCCATGTGCTT	0.473													C	73959989	T	C	73959989	3	2	145	1	0	0	0	0	1	0	0	0	8269	1551	54	4	155	4	KIAA2022	23	73959989	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08		73959989	81310571	66	9779											
ATRX	546	broad.mit.edu	37	X	76937111	76937111	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:76937111delG	uc004ecp.4	-	8	3869	c.3637delC	c.(3637-3639)cagfs	p.Q1213fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Q1175fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q998fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Q1145fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.Q1184fs|ATRX_uc010nly.1_Frame_Shift_Del_p.Q1158fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1213					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAGAATTCTGATCATCATCT	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937111	G	-	76937111	7	5	145	1	0	1	0	1	0	0	0	0	1208	1299	45	0	3949	0	ATRX	23	76937111	Frame_Shift_Del	DEL	G	TCGA-14-4157-01A-01D-1353-08	2977122	76937111	78333449	67	9780											
DIAPH2	1730	broad.mit.edu	37	X	96638984	96638984	+	Missense_Mutation	SNP	C	C	T			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:96638984C>T	uc004efu.4	+	24	3482	c.3086C>T	c.(3085-3087)gCt>gTt	p.A1029V	DIAPH2_uc004eft.4_Missense_Mutation_p.A1029V	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	1029					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AAAGAGAAAGCTGAACAAGAA	0.313													T	96638984	C	T	96638984	3	4	145	1	0	0	0	0	1	0	0	0	4519	797	28	3	3184	3	DIAPH2	23	96638984	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	19701873	96638984	58631576	68	9781											
VAMP7	6845	broad.mit.edu	37	X	155149532	155149532	+	Missense_Mutation	SNP	T	T	G			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:155149532T>G	uc004fnr.3	+	5	667	c.489T>G	c.(487-489)aaT>aaG	p.N163K	VAMP7_uc011naa.2_Missense_Mutation_p.N124K|VAMP7_uc011nab.2_Missense_Mutation_p.N62K|VAMP7_uc004fnt.3_Missense_Mutation_p.N122K|VAMP7_uc004fns.3_Intron|VAMP7_uc011nac.2_Missense_Mutation_p.N96K	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	163	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAACAGAAAATCTTGTGGATT	0.338													G	155149532	T	G	155149532	3	3	145	1	0	0	0	0	1	0	0	0	17114	1432	50	5	507	5	VAMP7	23	155149532	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	58510548	155149532	121028	69	9782											
KIAA1751	85452	broad.mit.edu	37	1	1888142	1888142	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:1888142C>T	uc001aim.1	-	16	2089	c.1933G>A	c.(1933-1935)Gtt>Att	p.V645I	KIAA1751_uc009vkz.1_Missense_Mutation_p.V645I	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	645										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AAGCCCCCAACGTTGGTCAGC	0.572													T	1888142	C	T	1888142	3	4	146	1	0	0	0	0	1	0	0	0	8256	536	19	1	363	1	KIAA1751	1	1888142	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		1888142	247362479	1	9783											
KIF1B	23095	broad.mit.edu	37	1	10425498	10425498	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:10425498G>A	uc001aqx.4	+	42	4746	c.4544G>A	c.(4543-4545)cGt>cAt	p.R1515H	KIF1B_uc001aqw.4_Missense_Mutation_p.R1469H|KIF1B_uc001aqy.3_Missense_Mutation_p.R1489H|KIF1B_uc001aqz.3_Missense_Mutation_p.R1515H|KIF1B_uc001ara.3_Missense_Mutation_p.R1475H|KIF1B_uc001arb.3_Missense_Mutation_p.R1501H	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1515					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTGCTGCTGCGTGAGAGACTT	0.507													A	10425498	G	A	10425498	3	1	146	1	0	0	0	0	1	0	0	0	8284	1145	40	1	6053	1	KIF1B	1	10425498	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	8537356	10425498	238825123	2	9784											
RPL11	6135	broad.mit.edu	37	1	24019182	24019185	+	Frame_Shift_Del	DEL	AGAC	AGAC	-			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:24019182_24019185delAGAC	uc001bhk.3	+	1	135_138	c.90_93delAGAC	c.(88-93)ggagacfs	p.G30fs	RPL11_uc001bhl.3_Frame_Shift_Del_p.G29fs	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	30					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGGAGAGTGGAGACAGACTGACGC	0.544													-	24019185	AGAC	-	24019182	7	5	146	1	0	1	0	1	0	0	0	0	13557	291	11	0	96	0	RPL11	1	24019182	Frame_Shift_Del	DEL	AGAC	TCGA-15-0742-01A-01W-0348-08	13593684	24019182	225231439	3	9785											
CNKSR1	10256	broad.mit.edu	37	1	26507077	26507077	+	Silent	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:26507077C>T	uc001bln.4	+	1	244	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Silent_p.G62G|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	62	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGGGCGGGGTGGAAC	0.657													T	26507077	C	T	26507077	2	4	146	1	0	0	0	0	0	0	0	1	3606	755	27	1		1	CNKSR1	1	26507077	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	2487895	26507077	222743544	4	9786											
TACSTD2	4070	broad.mit.edu	37	1	59042498	59042498	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:59042498C>T	uc001cyz.4	-	0	669	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	111	Thyroglobulin type-1.				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					AAGCGGCCCTCGGGGTCGCAG	0.706													T	59042498	C	T	59042498	3	4	146	1	0	0	0	0	1	0	0	0	15505	893	31	2	644	2	TACSTD2	1	59042498	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	32535421	59042498	190208123	5	9787											
CCDC18	343099	broad.mit.edu	37	1	93698049	93698049	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:93698049G>A	uc021opx.1	+	17	2520	c.2359G>A	c.(2359-2361)Gtt>Att	p.V787I	CCDC18_uc009wdl.1_Missense_Mutation_p.V422I	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	786										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAGCAAAACGTTATTCTACA	0.318													A	93698049	G	A	93698049	3	1	146	1	0	0	0	0	1	0	0	0	2794	1145	40	1	2783	1	CCDC18	1	93698049	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	34655551	93698049	155552572	6	9788											
NOTCH2	4853	broad.mit.edu	37	1	120510196	120510196	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:120510196C>T	uc001eik.3	-	7	1610	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	NOTCH2_uc001eil.3_Missense_Mutation_p.G438D|NOTCH2_uc021osy.1_Missense_Mutation_p.G399D|NOTCH2_uc001eim.4_Missense_Mutation_p.G355D	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	438	EGF-like 11; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGAAGGCGCCATCCGTGTT	0.478			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				T	120510196	C	T	120510196	3	4	146	1	0	0	0	0	1	0	0	0	10548	739	26	3	6210	3	NOTCH2	1	120510196	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26812147	120510196	128740425	7	9789											
LOXL3	84695	broad.mit.edu	37	2	74779634	74779634	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:74779634C>T	uc002smp.1	-	1	200	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.R43Q|LOXL3_uc002smq.1_Missense_Mutation_p.R43Q|LOXL3_uc010ffn.1_Missense_Mutation_p.R43Q|DOK1_uc002smr.3_Intron|DOK1_uc002sms.3_5'Flank|DOK1_uc010ffo.3_5'Flank|DOK1_uc002smt.3_5'Flank|DOK1_uc002smu.3_5'Flank|DOK1_uc010yrz.2_5'Flank|DOK1_uc002smw.1_5'Flank	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	43						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CAGCCGGAACCGAAGCCCCTG	0.662													T	74779634	C	T	74779634	3	4	146	1	0	0	0	0	1	0	0	0	8901	652	23	2	2185	2	LOXL3	2	74779634	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		74779634	168419739	8	9790											
LONRF2	164832	broad.mit.edu	37	2	100916305	100916305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:100916305C>A	uc002tal.4	-	4	1781	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	381					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTATCCTCTTCAAAGTGTAGA	0.413													A	100916305	C	A	100916305	4	1	146	1	0	0	0	0	0	1	0	0	8895	835	29	5	1155	5	LONRF2	2	100916305	Nonsense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26136671	100916305	142283068	9	9791											
SLC20A1	6574	broad.mit.edu	37	2	113417335	113417335	+	Missense_Mutation	SNP	G	G	A	rs142437239		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:113417335G>A	uc002tib.3	+	7	2142	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	SLC20A1_uc002tic.1_Missense_Mutation_p.V347I	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	535					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TGGCAATGACGTAAGGTCAGT	0.458													A	113417335	G	A	113417335	3	1	146	1	0	0	0	0	1	0	0	0	14438	1145	40	1	1629	1	SLC20A1	2	113417335	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	12501030	113417335	129782038	10	9792											
LRP1B	53353	broad.mit.edu	37	2	141072536	141072536	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141072536T>C	uc002tvj.1	-	82	13745	c.12773A>G	c.(12772-12774)cAg>cGg	p.Q4258R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4258	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TCCTCCATTCTGGCAGTAGTT	0.373										TSP Lung(27;0.18)			C	141072536	T	C	141072536	3	2	146	1	0	0	0	0	1	0	0	0	8955	1580	55	4	1062	4	LRP1B	2	141072536	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	27655201	141072536	102126837	11	9793											
LRP1B	53353	broad.mit.edu	37	2	141072633	141072633	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141072633T>C	uc002tvj.1	-	82	13648	c.12676A>G	c.(12676-12678)Aga>Gga	p.R4226G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4226	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		AAAATGCATCTTCCTCCATTT	0.343										TSP Lung(27;0.18)			C	141072633	T	C	141072633	3	2	146	1	0	0	0	0	1	0	0	0	8955	1617	56	4	1159	4	LRP1B	2	141072633	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	97	141072633	102126740	12	9794											
LRP1B	53353	broad.mit.edu	37	2	141092130	141092130	+	Splice_Site	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141092130T>C	uc002tvj.1	-	79	13089	c.12117_splice	c.e79-1	p.G4039_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4039					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TACATCATCCTGAAGAGAGCG	0.483										TSP Lung(27;0.18)			C	141092130	T	C	141092130	5	2	146	1	0	0	0	0	0	0	1	0	8955	1594	55	4	1736	4	LRP1B	2	141092130	Splice_Site	SNP	T	TCGA-15-0742-01A-01W-0348-08	19497	141092130	102107243	13	9795											
CHL1	10752	broad.mit.edu	37	3	439999	439999	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:439999C>T	uc003bot.3	+	24	3826	c.3184C>T	c.(3184-3186)Cgc>Tgc	p.R1062C	CHL1_uc003bou.3_Missense_Mutation_p.R1046C|CHL1_uc003bow.2_Missense_Mutation_p.R1046C|CHL1_uc011asi.2_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1046					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				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)		ACATATAGTTCGCCTAATGAC	0.388													T	439999	C	T	439999	3	4	146	1	0	0	0	0	1	0	0	0	3349	884	31	2	3274	2	CHL1	3	439999	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		439999	197582431	14	9796											
NEK10	152110	broad.mit.edu	37	3	27233555	27233555	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:27233555C>T	uc010hfk.3	-	4	635	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	NEK10_uc003cds.1_Missense_Mutation_p.V221I|NEK10_uc010hfj.3_Missense_Mutation_p.V136I			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	824							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGACATGTGACGGTGTTCCGG	0.438													T	27233555	C	T	27233555	3	4	146	1	0	0	0	0	1	0	0	0	10322	551	19	1		1	NEK10	3	27233555	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26793556	27233555	170788875	15	9797											
SCN11A	11280	broad.mit.edu	37	3	38951639	38951639	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:38951639G>A	uc021wvy.1	-	7	1218	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T340T(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTCAAAATTCGTATAATTATA	0.363													A	38951639	G	A	38951639	3	1	146	1	0	0	0	0	1	0	0	0	13913	1145	40	1	4432	1	SCN11A	3	38951639	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	11718084	38951639	159070791	16	9798											
COL6A5	256076	broad.mit.edu	37	3	130187963	130187963	+	Missense_Mutation	SNP	A	A	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:130187963A>T	uc010htj.1	+	37	7609	c.7115A>T	c.(7114-7116)cAt>cTt	p.H2372L	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.H411L|COL6A5_uc010htk.1_Missense_Mutation_p.H411L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2372	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAAATGAAACATCATCTCCAA	0.428													T	130187963	A	T	130187963	3	4	146	1	0	0	0	0	1	0	0	0	3702	217	8	5	7261	5	COL6A5	3	130187963	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	91236324	130187963	67834467	17	9799											
PLSCR1	5359	broad.mit.edu	37	3	146239654	146239654	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:146239654C>T	uc003evx.4	-	5	930	c.542G>A	c.(541-543)tGt>tAt	p.C181Y	PLSCR1_uc011bnn.2_Missense_Mutation_p.C100Y|PLSCR1_uc003evz.4_Intron	NM_021105	NP_066928	O15162	PLS1_HUMAN	Homo sapiens phospholipid scramblase 1 (PLSCR1), mRNA.	181	Cys-rich.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						ACAGCTGCTACATCTTAGTGG	0.438													T	146239654	C	T	146239654	3	4	146	1	0	0	0	0	1	0	0	0	12109	478	17	3	430	3	PLSCR1	3	146239654	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	16051691	146239654	51782776	18	9800											
SI	6476	broad.mit.edu	37	3	164700076	164700076	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:164700076G>A	uc003fei.3	-	46	5433	c.5370C>T	c.(5368-5370)aaC>aaT	p.N1790N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1790	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.N1790N(2)		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)	TTTTATTTCCGTTATACGTTA	0.348										HNSCC(35;0.089)			A	164700076	G	A	164700076	2	1	146	1	0	0	0	0	0	0	0	1	14297	1136	40	1		1	SI	3	164700076	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	18460422	164700076	33322354	19	9801											
PIK3CA	5290	broad.mit.edu	37	3	178916851	178916853	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:178916851_178916853delGAA	uc003fjk.3	+	1	395_397	c.238_240delGAA	c.(238-240)gaadel	p.E81del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	81	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E81K(10)|p.E80K(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGCAGAAAGGGAAGAATTTTTTG	0.365		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178916853	GAA	-	178916851	7	5	146	1	0	1	0	1	0	0	0	0	11913	1175	41	0	240	0	PIK3CA	3	178916851	In_Frame_Del	DEL	GAA	TCGA-15-0742-01A-01W-0348-08	14216775	178916851	19105579	20	9802											
TMEM207	131920	broad.mit.edu	37	3	190147491	190147491	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:190147491C>G	uc003fsj.2	-	4	401	c.334G>C	c.(334-336)Gga>Cga	p.G112R		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Homo sapiens transmembrane protein 207 (TMEM207), mRNA.	112						integral to membrane				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)		AGGTGAATTCCAACAGTTGGA	0.428													G	190147491	C	G	190147491	3	3	146	1	0	0	0	0	1	0	0	0	16129	603	21	5	110	5	TMEM207	3	190147491	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	11230640	190147491	7874939	21	9803											
CPEB2	132864	broad.mit.edu	37	4	15005738	15005739	+	In_Frame_Ins	INS	-	-	GCG			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr4:15005738_15005739insGCG	uc003gnk.2	+	0	1441_1442	c.1441_1442insGCG	c.(1441-1443)agc>aGCGgc	p.487_488insG	BC113726_uc003gng.4_5'Flank|BC113726_uc003gnh.1_5'Flank|CPEB2_uc003gnl.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnm.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gni.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnn.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnj.2_In_Frame_Ins_p.487_488insG	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	50	RRM 2.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CGTTCCGACGAgcggcggcggc	0.728													GCG	15005739	-	GCG	15005738	7	5	146	1	0	1	1	0	0	0	0	0	3801	304	11	0	1443	0	CPEB2	4	15005738	In_Frame_Ins	INS	-	TCGA-15-0742-01A-01W-0348-08		15005738	176148538	22	9804											
CCDC158	339965	broad.mit.edu	37	4	77305567	77305567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr4:77305567G>A	uc003hkb.4	-	5	552	c.399_splice	c.e5-1	p.R133_splice	CCDC158_uc003hkd.3_Splice_Site_p.R133_splice	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	133										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTCTCCCTTCGTCTATGAAAT	0.313													A	77305567	G	A	77305567	4	1	146	1	0	0	0	0	0	1	0	0	2790	1159	40	1	3021	1	CCDC158	4	77305567	Nonsense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	62299829	77305567	113848709	23	9805											
HEATR7B2	133558	broad.mit.edu	37	5	41051102	41051102	+	Missense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:41051102G>T	uc003jmj.4	-	12	1811	c.1321C>A	c.(1321-1323)Cca>Aca	p.P441T	HEATR7B2_uc003jmi.4_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	441							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATGACCAGTGGGTCCAGGGTT	0.408													T	41051102	G	T	41051102	3	4	146	1	0	0	0	0	1	0	0	0	7035	1232	43	5	3556	5	HEATR7B2	5	41051102	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		41051102	139864158	24	9806											
SNX24	28966	broad.mit.edu	37	5	122281829	122281829	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:122281829G>A	uc011cwo.2	+	2	393	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	SNX24_uc003ktf.2_Missense_Mutation_p.R75Q|SNX24_uc010jcy.3_Missense_Mutation_p.R75Q	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	Homo sapiens sorting nexin 24 (SNX24), mRNA.	75	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GAACAGCGACGACAAGGCTTG	0.348													A	122281829	G	A	122281829	3	1	146	1	0	0	0	0	1	0	0	0	14895	1058	37	2	234	2	SNX24	5	122281829	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	81230727	122281829	58633431	25	9807											
SLC25A2	83884	broad.mit.edu	37	5	140682773	140682773	+	Silent	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:140682773T>C	uc003ljf.3	-	0	840	c.660A>G	c.(658-660)ggA>ggG	p.G220G		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	220					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACAGGCAAATTCCAGCAACTC	0.443													C	140682773	T	C	140682773	2	2	146	1	0	0	0	0	0	0	0	1	14482	1770	62	4		4	SLC25A2	5	140682773	Silent	SNP	T	TCGA-15-0742-01A-01W-0348-08	18400944	140682773	40232487	26	9808											
G3BP1	10146	broad.mit.edu	37	5	151170550	151170550	+	Missense_Mutation	SNP	A	A	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:151170550A>G	uc003lun.3	+	3	449	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	G3BP1_uc010jhy.1_Missense_Mutation_p.Q93R|G3BP1_uc003lum.3_Missense_Mutation_p.Q93R|G3BP1_uc011dcu.2_5'UTR|G3BP1_uc010jhz.3_5'UTR	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	93	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTGGTAGTCCAGGTGATGGGG	0.453													G	151170550	A	G	151170550	3	3	146	1	0	0	0	0	1	0	0	0	6141	188	7	4	288	4	G3BP1	5	151170550	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	10487777	151170550	29744710	27	9809											
MDC1	9656	broad.mit.edu	37	6	30671524	30671524	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:30671524C>G	uc003nrg.4	-	9	5876	c.5436G>C	c.(5434-5436)aaG>aaC	p.K1812N	MDC1_uc003nrf.4_Missense_Mutation_p.K443N|MDC1_uc011dmp.1_Missense_Mutation_p.K1419N	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1812	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTAAAGACCTCTTGCGGCTTT	0.498								Other conserved DNA damage response genes					G	30671524	C	G	30671524	3	3	146	1	0	0	0	0	1	0	0	0	9403	912	32	5	857	5	MDC1	6	30671524	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		30671524	140443543	28	9810											
KIAA1586	57691	broad.mit.edu	37	6	56918065	56918065	+	Missense_Mutation	SNP	A	A	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:56918065A>C	uc003pdj.3	+	3	938	c.768A>C	c.(766-768)ttA>ttC	p.L256F	KIAA1586_uc011dxm.2_Missense_Mutation_p.L229F	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	256							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTACAGTTTAGTAAAACATA	0.279													C	56918065	A	C	56918065	3	2	146	1	0	0	0	0	1	0	0	0	8245	417	15	5	782	5	KIAA1586	6	56918065	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	26246541	56918065	114197002	29	9811											
KCNQ5	56479	broad.mit.edu	37	6	73904449	73904449	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:73904449C>T	uc011dyh.2	+	14	2515	c.2168C>T	c.(2167-2169)gCg>gTg	p.A723V	KCNQ5_uc011dyi.2_Missense_Mutation_p.A714V|KCNQ5_uc010kat.3_Missense_Mutation_p.A695V|KCNQ5_uc003pgk.3_Missense_Mutation_p.A704V|KCNQ5_uc011dyj.2_Missense_Mutation_p.A594V|KCNQ5_uc011dyk.2_Missense_Mutation_p.A454V	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	704					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACTTTCTACGCGCTTAGCCCT	0.488													T	73904449	C	T	73904449	3	4	146	1	0	0	0	0	1	0	0	0	8086	768	27	1	2226	1	KCNQ5	6	73904449	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	16986384	73904449	97210618	30	9812											
IMPG1	3617	broad.mit.edu	37	6	76751736	76751736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:76751736G>A	uc003pik.1	-	1	305	c.175C>T	c.(175-177)Cga>Tga	p.R59*		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	59					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCGAATATTCGTCTCATAGTT	0.363													A	76751736	G	A	76751736	4	1	146	1	0	0	0	0	0	1	0	0	7728	1153	40	1	2282	1	IMPG1	6	76751736	Nonsense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	2847287	76751736	94363331	31	9813											
NOX3	50508	broad.mit.edu	37	6	155776184	155776184	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:155776184G>A	uc003qqm.3	-	1	231	c.128C>T	c.(127-129)aCa>aTa	p.T43I		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	43							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			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)		AATAACTCGTGTGTAATGGAA	0.343													A	155776184	G	A	155776184	3	1	146	1	0	0	0	0	1	0	0	0	10557	1377	48	3	1626	3	NOX3	6	155776184	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	79024448	155776184	15338883	32	9814											
EGFR	1956	broad.mit.edu	37	7	55238894	55238894	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:55238894G>A	uc003tqk.3	+	15	2153	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	EGFR_uc022adm.1_Missense_Mutation_p.C636Y|EGFR_uc010kzg.2_Missense_Mutation_p.C591Y|EGFR_uc022adn.1_Missense_Mutation_p.C591Y|EGFR_uc011kco.2_Missense_Mutation_p.C583Y|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	636					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C636Y(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTTGAAGGCTGTCCAACGAAT	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55238894	G	A	55238894	3	1	146	1	0	0	0	0	1	0	0	0	4967	1377	48	3	2233	3	EGFR	7	55238894	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		55238894	103899769	33	9815											
CCL24	6369	broad.mit.edu	37	7	75442963	75442963	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:75442963G>A	uc011kga.2	-	0	130	c.71C>T	c.(70-72)aCg>aTg	p.T24M		NM_002991	NP_002982	O00175	CCL24_HUMAN	Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.	24					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						GGTCTTACCCGTAGGGATGAT	0.612													A	75442963	G	A	75442963	3	1	146	1	0	0	0	0	1	0	0	0	2896	1145	40	1	298	1	CCL24	7	75442963	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	20204069	75442963	83695700	34	9816											
HGF	3082	broad.mit.edu	37	7	81331979	81331979	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:81331979C>T	uc003uhl.3	-	17	2270	c.2105G>A	c.(2104-2106)cGt>cAt	p.R702H	HGF_uc003uhm.3_Missense_Mutation_p.R697H	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	702	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			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						AATACCAGGACGATTTGGAAT	0.403													T	81331979	C	T	81331979	3	4	146	1	0	0	0	0	1	0	0	0	7085	536	19	1	85	1	HGF	7	81331979	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	5889016	81331979	77806684	35	9817											
ZNF804B	219578	broad.mit.edu	37	7	88963595	88963595	+	Silent	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:88963595C>A	uc011khi.2	+	3	1837	c.1299C>A	c.(1297-1299)acC>acA	p.T433T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	433						intracellular	zinc ion binding			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)			AAGCATGTACCCATAATGTGG	0.373										HNSCC(36;0.09)			A	88963595	C	A	88963595	2	1	146	1	0	0	0	0	0	0	0	1	18168	610	22	5		5	ZNF804B	7	88963595	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	7631616	88963595	70175068	36	9818											
COL1A2	1278	broad.mit.edu	37	7	94055328	94055328	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:94055328G>C	uc003ung.1	+	44	3433	c.2962G>C	c.(2962-2964)Ggt>Cgt	p.G988R	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	988					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCTGTTGGTCCTGCTGG	0.478										HNSCC(75;0.22)			C	94055328	G	C	94055328	3	2	146	1	0	0	0	0	1	0	0	0	3678	1348	47	5	3140	5	COL1A2	7	94055328	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	5091733	94055328	65083335	37	9819											
SLC26A3	1811	broad.mit.edu	37	7	107434196	107434196	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:107434196C>T	uc003ver.2	-	2	473	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SLC26A3_uc003ves.2_Missense_Mutation_p.V53I	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	88					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ccttGTAGTACGGCCACAATC	0.383													T	107434196	C	T	107434196	3	4	146	1	0	0	0	0	1	0	0	0	14518	536	19	1	2108	1	SLC26A3	7	107434196	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	13378868	107434196	51704467	38	9820											
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:123595133G>A	uc003vle.3	+	3	1476	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(3)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338													A	123595133	G	A	123595133	3	1	146	1	0	0	0	0	1	0	0	0	14986	1058	37	2	1043	2	SPAM1	7	123595133	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	16160937	123595133	35543530	39	9821											
SVOPL	136306	broad.mit.edu	37	7	138310791	138310791	+	Missense_Mutation	SNP	C	C	T	rs144549446		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:138310791C>T	uc011kqh.2	-	11	1186	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	SVOPL_uc003vue.3_Missense_Mutation_p.G244S	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	396						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCAATCAGGCCGGCACTAGAA	0.507													T	138310791	C	T	138310791	3	4	146	1	0	0	0	0	1	0	0	0	15421	652	23	2	308	2	SVOPL	7	138310791	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	14715658	138310791	20827872	40	9822											
RIMS2	9699	broad.mit.edu	37	8	105001550	105001550	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr8:105001550G>A	uc003yls.3	+	14	2520	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E	RIMS2_uc003ylp.3_Missense_Mutation_p.G982E|RIMS2_uc003ylw.2_Missense_Mutation_p.G774E|RIMS2_uc003ylq.3_Missense_Mutation_p.G774E|RIMS2_uc003ylr.3_Missense_Mutation_p.G821E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1044					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			GTGGAACAGGGGCTTCGAGGG	0.398										HNSCC(12;0.0054)			A	105001550	G	A	105001550	3	1	146	1	0	0	0	0	1	0	0	0	13368	1232	43	3	3137	3	RIMS2	8	105001550	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		105001550	41362472	41	9823											
CSMD3	114788	broad.mit.edu	37	8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr8:114290824C>T	uc003ynu.3	-	2	670	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_uc003ynt.3_Missense_Mutation_p.E131K|CSMD3_uc011lhx.2_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	171	CUB 1.					integral to membrane|plasma membrane				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						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	114290824	C	T	114290824	3	4	146	1	0	0	0	0	1	0	0	0	3946	893	31	2	10888	2	CSMD3	8	114290824	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	9289274	114290824	32073198	42	9824											
IFNA21	3452	broad.mit.edu	37	9	21166247	21166247	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:21166247C>G	uc003zom.2	-	0	413	c.365G>C	c.(364-366)tGc>tCc	p.C122S		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	122					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			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGTATCACGCAGGCTTCCAG	0.463													G	21166247	C	G	21166247	3	3	146	1	0	0	0	0	1	0	0	0	7538	710	25	5	208	5	IFNA21	9	21166247	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		21166247	120047184	43	9825											
S1PR3	1903	broad.mit.edu	37	9	91616623	91616623	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:91616623G>A	uc022bjm.1	+	0	508	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	S1PR3_uc004aqe.3_Missense_Mutation_p.A170T	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	170					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.A170A(1)|p.G169G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CACGCTGGGCGCCCTGCCCAT	0.557											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	91616623	G	A	91616623	3	1	146	1	0	0	0	0	1	0	0	0	13795	1087	38	1	510	1	S1PR3	9	91616623	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	70450376	91616623	49596808	44	9826											
SURF4	6836	broad.mit.edu	37	9	136230519	136230519	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:136230519G>A	uc004cdj.3	-	5	790	c.660C>T	c.(658-660)aaC>aaT	p.N220N	SURF4_uc011mda.2_Silent_p.N211N|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_Silent_p.N177N|SURF4_uc011mdc.2_Silent_p.N177N	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	220						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TCCAGAAGGCGTTGAAATATA	0.488													A	136230519	G	A	136230519	2	1	146	1	0	0	0	0	0	0	0	1	15402	1136	40	1		1	SURF4	9	136230519	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	44613896	136230519	4982912	45	9827											
LCN1	3933	broad.mit.edu	37	9	138415760	138415760	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:138415760G>A	uc022bpk.1	+	3	387	c.327G>A	c.(325-327)tcG>tcA	p.S109S	LCN1_uc022bpj.1_Silent_p.S109S|LCN1_uc004cfz.2_Silent_p.S109S|LCN1_uc004cga.2_Silent_p.S109S	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	109					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.S109S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TCATCAGGTCGCACGTGAAGG	0.602													A	138415760	G	A	138415760	2	1	146	1	0	0	0	0	0	0	0	1	8680	1074	38	1		1	LCN1	9	138415760	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	2185241	138415760	2797671	46	9828											
PTCHD3	374308	broad.mit.edu	37	10	27688091	27688091	+	Missense_Mutation	SNP	A	A	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr10:27688091A>T	uc001itu.2	-	3	1554	c.1436T>A	c.(1435-1437)aTg>aAg	p.M479K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	479	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GACATTGGACATCCGCTCTCG	0.403													T	27688091	A	T	27688091	3	4	146	1	0	0	0	0	1	0	0	0	12734	217	8	5	871	5	PTCHD3	10	27688091	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08		27688091	107846656	47	9829											
TRIM3	10612	broad.mit.edu	37	11	6470405	6470405	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:6470405G>C	uc001mdh.3	-	12	2484	c.2088C>G	c.(2086-2088)ttC>ttG	p.F696L	TRIM3_uc001mdi.3_Missense_Mutation_p.F696L|TRIM3_uc010raj.2_Missense_Mutation_p.F577L|TRIM3_uc009yfd.3_Missense_Mutation_p.F696L	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	696					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.F696L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGCTGTCGAATACCTGGG	0.562													C	6470405	G	C	6470405	3	2	146	1	0	0	0	0	1	0	0	0	16501	1049	37	5	150	5	TRIM3	11	6470405	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		6470405	128536111	48	9830											
SYT9	143425	broad.mit.edu	37	11	7324279	7324279	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:7324279T>C	uc001mfe.3	+	1	392	c.155T>C	c.(154-156)gTg>gCg	p.V52A	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	52						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GATATCTCAGTGAGCCTGCTG	0.537													C	7324279	T	C	7324279	3	2	146	1	0	0	0	0	1	0	0	0	15478	1696	59	4	161	4	SYT9	11	7324279	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	853874	7324279	127682237	49	9831											
ANO1	55107	broad.mit.edu	37	11	69924755	69924755	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:69924755C>T	uc001opj.3	+	0	348	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	15					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GGCCGAGGACCGCAGCGTCCA	0.731													T	69924755	C	T	69924755	3	4	146	1	0	0	0	0	1	0	0	0	695	652	23	2	45	2	ANO1	11	69924755	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	62600476	69924755	65081761	50	9832											
NOX4	50507	broad.mit.edu	37	11	89155085	89155085	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:89155085G>A	uc001pct.3	-	7	853	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NOX4_uc009yvr.3_Missense_Mutation_p.T180M|NOX4_uc001pcu.3_Missense_Mutation_p.T131M|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.T205M|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.T39M|NOX4_uc009yvp.3_Missense_Mutation_p.T205M|NOX4_uc010rtv.2_Missense_Mutation_p.T181M|NOX4_uc009yvq.3_Missense_Mutation_p.T181M|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	205	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.T205T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AACATGCAACGTCAGCAGCAT	0.333													A	89155085	G	A	89155085	3	1	146	1	0	0	0	0	1	0	0	0	10558	1145	40	1	1166	1	NOX4	11	89155085	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	19230330	89155085	45851431	51	9833											
CASP1	114769	broad.mit.edu	37	11	104915384	104915384	+	Missense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:104915384G>T	uc001pip.1	-	2	35	c.8_splice	c.e2-1	p.D3_splice	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_Splice_Site_p.D3_splice	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	3	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCAGGACCTTGTCTGTTTGGA	0.408													T	104915384	G	T	104915384	3	4	146	1	0	0	0	0	1	0	0	0	2668	1391	48	5		5	CASP1	11	104915384	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	15760299	104915384	30091132	52	9834											
OLR1	4973	broad.mit.edu	37	12	10319338	10319338	+	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:10319338T>A	uc001qxo.1	-	2	511	c.397A>T	c.(397-399)Aca>Tca	p.T133S	OLR1_uc010sgz.1_Missense_Mutation_p.T29S|OLR1_uc021qvb.1_Missense_Mutation_p.T133S|OLR1_uc010sha.1_Missense_Mutation_p.T133S	NM_002543	NP_002534	P78380	OLR1_HUMAN	Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.	133	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCTTCAGTGTTTCTTGGAGA	0.403													A	10319338	T	A	10319338	3	1	146	1	0	0	0	0	1	0	0	0	10863	1725	60	5	440	5	OLR1	12	10319338	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		10319338	123532557	53	9835											
CSRNP2	81566	broad.mit.edu	37	12	51457947	51457947	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:51457947G>A	uc021qxx.1	-	4	1726	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	CSRNP2_uc001rxu.2_Missense_Mutation_p.T405M	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	405					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCTGTTCACCGTTGAGGCAGT	0.567													A	51457947	G	A	51457947	3	1	146	1	0	0	0	0	1	0	0	0	3964	1145	40	1	421	1	CSRNP2	12	51457947	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	41138609	51457947	82393948	54	9836											
MYO1A	4640	broad.mit.edu	37	12	57430106	57430106	+	Missense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:57430106G>T	uc001smw.4	-	21	2574	c.2334C>A	c.(2332-2334)ttC>ttA	p.F778L	MYO1A_uc010sqz.2_Missense_Mutation_p.F616L|MYO1A_uc009zpd.3_Missense_Mutation_p.F778L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	778					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTGTAGATGAAATCTGCCA	0.502													T	57430106	G	T	57430106	3	4	146	1	0	0	0	0	1	0	0	0	10068	1281	45	5	825	5	MYO1A	12	57430106	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	5972159	57430106	76421789	55	9837											
IL22	50616	broad.mit.edu	37	12	68646552	68646552	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:68646552C>T	uc001sty.1	-	1	297	c.244G>A	c.(244-246)Gga>Aga	p.G82R	IL22_uc010stb.1_Missense_Mutation_p.G82R	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	82					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ACACTGACTCCGTGGAACAGT	0.498													T	68646552	C	T	68646552	3	4	146	1	0	0	0	0	1	0	0	0	7672	661	23	2	311	2	IL22	12	68646552	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	11216446	68646552	65205343	56	9838											
MDM1	56890	broad.mit.edu	37	12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:68719231G>A	uc001stz.2	-	3	759	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Intron|MDM1_uc001sua.4_3'UTR|MDM1_uc010std.2_3'UTR	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	208						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338													A	68719231	G	A	68719231	3	1	146	1	0	0	0	0	1	0	0	0	9412	1319	46	3	1565	3	MDM1	12	68719231	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	72679	68719231	65132664	57	9839											
KCNC2	3747	broad.mit.edu	37	12	75444575	75444575	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:75444575C>T	uc001sxg.1	-	2	1754	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	KCNC2_uc009zry.3_Missense_Mutation_p.E404K|KCNC2_uc001sxe.3_Missense_Mutation_p.E404K|KCNC2_uc001sxf.3_Missense_Mutation_p.E404K|KCNC2_uc010stw.1_Missense_Mutation_p.E404K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	404					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCCACTCTCTCGGCATAGTAG	0.448													T	75444575	C	T	75444575	3	4	146	1	0	0	0	0	1	0	0	0	8015	893	31	2	784	2	KCNC2	12	75444575	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	6725344	75444575	58407320	58	9840											
RIMBP2	23504	broad.mit.edu	37	12	130927141	130927141	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:130927141G>A	uc001uil.2	-	7	921	c.705C>T	c.(703-705)aaC>aaT	p.N235N	RIMBP2_uc001uim.3_Silent_p.N143N	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	235						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACCGCGACTCGTTGTCCTGCA	0.582													A	130927141	G	A	130927141	2	1	146	1	0	0	0	0	0	0	0	1	13363	1136	40	1		1	RIMBP2	12	130927141	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	55482566	130927141	2924754	59	9841											
EP400	57634	broad.mit.edu	37	12	132490816	132490816	+	Missense_Mutation	SNP	T	T	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:132490816T>G	uc001ujn.3	+	13	3247	c.3095T>G	c.(3094-3096)cTg>cGg	p.L1032R	EP400_uc021rgq.1_Missense_Mutation_p.L1031R|EP400_uc001ujm.3_Missense_Mutation_p.L1032R	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1068	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.P1032P(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGCCATCCTGCCGAAGGGC	0.542													G	132490816	T	G	132490816	3	3	146	1	0	0	0	0	1	0	0	0	5149	1580	55	5	3142	5	EP400	12	132490816	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	1563675	132490816	1361079	60	9842											
TSSK4	283629	broad.mit.edu	37	14	24675764	24675764	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:24675764T>C	uc001wnh.3	+	1	479	c.275T>C	c.(274-276)aTt>aCt	p.I92T	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Missense_Mutation_p.I16T|TSSK4_uc001wnf.3_5'UTR|TSSK4_uc001wng.3_Missense_Mutation_p.I92T	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	92	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TATCGGGCCATTGAGAGCACA	0.532													C	24675764	T	C	24675764	3	2	146	1	0	0	0	0	1	0	0	0	16668	1493	52	4	281	4	TSSK4	14	24675764	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		24675764	82673776	61	9843											
LTBP2	4053	broad.mit.edu	37	14	74969471	74969471	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:74969471G>A	uc001xqa.3	-	33	5442	c.5055C>T	c.(5053-5055)acC>acT	p.T1685T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1685					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCTCAGGGACGGTGTCCTCGG	0.637													A	74969471	G	A	74969471	2	1	146	1	0	0	0	0	0	0	0	1	9074	1103	39	2		2	LTBP2	14	74969471	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	50293707	74969471	32380069	62	9844											
PROX2	283571	broad.mit.edu	37	14	75329549	75329549	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:75329549G>C	uc021rwo.1	-	0	989	c.989C>G	c.(988-990)gCa>gGa	p.A330G	PROX2_uc001xqp.2_Missense_Mutation_p.A330G|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	330					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGGAAAGTTTGCTGGGGGATC	0.502													C	75329549	G	C	75329549	3	2	146	1	0	0	0	0	1	0	0	0	12561	1319	46	5	805	5	PROX2	14	75329549	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	360078	75329549	32019991	63	9845											
MESDC2	23184	broad.mit.edu	37	15	81282094	81282094	+	Silent	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr15:81282094C>A	uc002bfy.1	-	0	112	c.39G>T	c.(37-39)ctG>ctT	p.L13L	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	13	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						AGGCACAAAGCAGGACCACGG	0.721													A	81282094	C	A	81282094	2	1	146	1	0	0	0	0	0	0	0	1	9481	697	25	5		5	MESDC2	15	81282094	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08		81282094	21249298	64	9846											
CPPED1	55313	broad.mit.edu	37	16	12875067	12875067	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr16:12875067G>A	uc002dca.4	-	1	375	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CPPED1_uc002dcb.4_Silent_p.C88C	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	88							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGTCGCCGCACAGAACGA	0.532													A	12875067	G	A	12875067	2	1	146	1	0	0	0	0	0	0	0	1	3822	1079	38	1		1	CPPED1	16	12875067	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08		12875067	77479686	65	9847											
CIRH1A	84916	broad.mit.edu	37	16	69201051	69201051	+	Missense_Mutation	SNP	G	G	A	rs34057086	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr16:69201051G>A	uc002ews.4	+	15	2003	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Missense_Mutation_p.R553H|CIRH1A_uc010cfi.3_Missense_Mutation_p.R438H	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	636						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATCCGGAGGCGCACAGCTCAT	0.348													A	69201051	G	A	69201051	3	1	146	1	0	0	0	0	1	0	0	0	3434	1087	38	1	1965	1	CIRH1A	16	69201051	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	56325984	69201051	21153702	66	9848											
MYH2	4620	broad.mit.edu	37	17	10430055	10430055	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr17:10430055G>A	uc010coi.3	-	29	4176	c.4048C>T	c.(4048-4050)Cgg>Tgg	p.R1350W	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1350W|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1350					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						TACTGTTCCCGCAGCAGGTCA	0.547													A	10430055	G	A	10430055	3	1	146	1	0	0	0	0	1	0	0	0	10035	1086	38	1	1821	1	MYH2	17	10430055	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		10430055	70765155	67	9849											
JMJD6	23210	broad.mit.edu	37	17	74721588	74721588	+	Missense_Mutation	SNP	A	A	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr17:74721588A>G	uc002jso.3	-	1	803	c.479T>C	c.(478-480)cTt>cCt	p.L160P	JMJD6_uc002jsn.1_Missense_Mutation_p.L160P|METTL23_uc021udk.1_5'Flank|METTL23_uc002jsr.3_5'Flank|METTL23_uc021udl.1_5'Flank|METTL23_uc021udm.1_5'Flank|METTL23_uc002jst.3_5'Flank|METTL23_uc021udn.1_5'Flank|METTL23_uc002jsu.3_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	160	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						ATACTGGAAAAGGTCATCAGT	0.393													G	74721588	A	G	74721588	3	3	146	1	0	0	0	0	1	0	0	0	7953	72	3	4	793	4	JMJD6	17	74721588	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	64291533	74721588	6473622	68	9850											
PTPRM	5797	broad.mit.edu	37	18	7888281	7888281	+	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:7888281T>A	uc002knn.4	+	2	877	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	PTPRM_uc010dkv.3_Missense_Mutation_p.L125Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	125	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AACGGGCCACTGGGGAATCCT	0.453													A	7888281	T	A	7888281	3	1	146	1	0	0	0	0	1	0	0	0	12806	1580	55	5	384	5	PTPRM	18	7888281	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		7888281	70188967	69	9851											
CTAGE1	64693	broad.mit.edu	37	18	19997860	19997860	+	Translation_Start_Site	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:19997860G>A	uc002ktv.1	-	0						NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGCTCCTCCGTAGCGCCAAG	0.587													A	19997860	G	A	19997860	1	1	146	1	0	0	0	0	0	0	0	0	3992	1160	40	1		1	CTAGE1	18	19997860	Translation_Start_Site	SNP	G	TCGA-15-0742-01A-01W-0348-08	12109579	19997860	58079388	70	9852											
DCC	1630	broad.mit.edu	37	18	50734176	50734176	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:50734176C>G	uc002lfe.2	+	10	2466	c.1850C>G	c.(1849-1851)aCa>aGa	p.T617R	DCC_uc010xdr.1_Missense_Mutation_p.T465R|DCC_uc010dpf.2_Missense_Mutation_p.T272R	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	617					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGTGGTTACACTTTCTGAC	0.338													G	50734176	C	G	50734176	3	3	146	1	0	0	0	0	1	0	0	0	4282	478	17	5	1892	5	DCC	18	50734176	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	30736316	50734176	27343072	71	9853											
MUC16	94025	broad.mit.edu	37	19	9067947	9067947	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:9067947G>C	uc002mkp.3	-	2	19703	c.19499C>G	c.(19498-19500)aCa>aGa	p.T6500R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6502	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						GGGTGGGCTTGTCCCTGATAT	0.468													C	9067947	G	C	9067947	3	2	146	1	0	0	0	0	1	0	0	0	9973	1377	48	5	24352	5	MUC16	19	9067947	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		9067947	50061036	72	9854											
GAPDHS	26330	broad.mit.edu	37	19	36029512	36029512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:36029512C>T	uc002oaf.1	+	3	492	c.376C>T	c.(376-378)Cga>Tga	p.R126*		NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	126					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CACCCACGGCCGATACAAGGG	0.522													T	36029512	C	T	36029512	4	4	146	1	0	0	0	0	0	1	0	0	6237	644	23	2	390	2	GAPDHS	19	36029512	Nonsense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26961565	36029512	23099471	73	9855											
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:56539808C>T	uc002qmj.3	+	6	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	737						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498													T	56539808	C	T	56539808	3	4	146	1	0	0	0	0	1	0	0	0	10480	875	31	2	2235	2	NLRP5	19	56539808	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	20510296	56539808	2589175	74	9856											
TMC2	117532	broad.mit.edu	37	20	2539347	2539347	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:2539347C>T	uc002wgf.1	+	2	343	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	TMC2_uc002wgg.1_Missense_Mutation_p.R94W|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	110	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCCAGGAGCGGACAGCAGC	0.622													T	2539347	C	T	2539347	3	4	146	1	0	0	0	0	1	0	0	0	15982	759	27	1	338	1	TMC2	20	2539347	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		2539347	60486173	75	9857											
C20orf111	51526	broad.mit.edu	37	20	42826177	42826177	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:42826177C>T	uc002xlk.3	-	3	646	c.394G>A	c.(394-396)Gga>Aga	p.G132R		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.	132										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAGCTTTCTCCTGCACTGAAC	0.498													T	42826177	C	T	42826177	3	4	146	1	0	0	0	0	1	0	0	0	2080	690	24	3	488	3	C20orf111	20	42826177	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	40286830	42826177	20199343	76	9858											
PCK1	5105	broad.mit.edu	37	20	56138743	56138743	+	Silent	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:56138743C>T	uc002xyn.4	+	5	1084	c.921C>T	c.(919-921)tgC>tgT	p.C307C	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	307					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			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)			AGGTTGAGTGCGTCGGGGATG	0.567													T	56138743	C	T	56138743	2	4	146	1	0	0	0	0	0	0	0	1	11581	776	27	1		1	PCK1	20	56138743	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	13312566	56138743	6886777	77	9859											
C2CD2	25966	broad.mit.edu	37	21	43327136	43327136	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:43327136C>T	uc002yzw.3	-	9	1525	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	C2CD2_uc002yzt.3_Missense_Mutation_p.R44H|C2CD2_uc002yzu.3_Missense_Mutation_p.R260H|C2CD2_uc002yzv.3_Missense_Mutation_p.R273H|C2CD2_uc002yzx.1_Missense_Mutation_p.R273H	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	428						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CACGTCGACGCGAGGCTTGGT	0.592													T	43327136	C	T	43327136	3	4	146	1	0	0	0	0	1	0	0	0	2152	768	27	1	827	1	C2CD2	21	43327136	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		43327136	4802759	78	9860											
ABCG1	9619	broad.mit.edu	37	21	43711761	43711761	+	Silent	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:43711761C>T	uc011aev.2	+	12	1791	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L	ABCG1_uc002zam.3_Silent_p.L528L|ABCG1_uc002zan.3_Silent_p.L552L|ABCG1_uc002zao.3_Silent_p.L547L|ABCG1_uc002zap.3_Silent_p.L550L|ABCG1_uc002zaq.3_Silent_p.L562L|ABCG1_uc002zar.3_Silent_p.L561L|ABCG1_uc010gpb.2_Missense_Mutation_p.P202L	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	562	ABC transmembrane type-2.				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			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)	CTCCACGTCCCTGCAGGTGCC	0.677													T	43711761	C	T	43711761	2	4	146	1	0	0	0	0	0	0	0	1	68	680	24	3		3	ABCG1	21	43711761	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	384625	43711761	4418134	79	9861											
ITGB2	3689	broad.mit.edu	37	21	46320283	46320283	+	Silent	SNP	G	G	A	rs35013643	by1000genomes	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:46320283G>A	uc002zgd.2	-	5	893	c.849C>T	c.(847-849)gaC>gaT	p.D283D	ITGB2_uc002zgf.3_Silent_p.D283D|ITGB2_uc011afl.1_Silent_p.D205D|ITGB2_uc010gpw.2_Silent_p.D226D|ITGB2_uc002zgg.2_Silent_p.D283D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	283	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.N282fs*41(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GACAGCGGCCGTCGTTGGGGG	0.642													A	46320283	G	A	46320283	2	1	146	1	0	0	0	0	0	0	0	1	7894	1136	40	1		1	ITGB2	21	46320283	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	2608522	46320283	1809612	80	9862											
ITGB2	3689	broad.mit.edu	37	21	46320342	46320342	+	Missense_Mutation	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:46320342C>A	uc002zgd.2	-	5	834	c.790G>T	c.(790-792)Gat>Tat	p.D264Y	ITGB2_uc002zgf.3_Missense_Mutation_p.D264Y|ITGB2_uc011afl.1_Missense_Mutation_p.D186Y|ITGB2_uc010gpw.2_Missense_Mutation_p.D207Y|ITGB2_uc002zgg.2_Missense_Mutation_p.D264Y	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	264	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AAGCCGTCATCAGTGGCAAAC	0.627													A	46320342	C	A	46320342	3	1	146	1	0	0	0	0	1	0	0	0	7894	826	29	5	1559	5	ITGB2	21	46320342	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	59	46320342	1809553	81	9863											
INPP5J	27124	broad.mit.edu	37	22	31523945	31523945	+	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr22:31523945T>A	uc003aju.4	+	6	1888	c.1796T>A	c.(1795-1797)tTc>tAc	p.F599Y	INPP5J_uc003ajw.3_Missense_Mutation_p.F35Y|INPP5J_uc003ajt.4_Missense_Mutation_p.F231Y|INPP5J_uc003ajv.4_Missense_Mutation_p.F232Y|INPP5J_uc003ajs.4_Missense_Mutation_p.F232Y|INPP5J_uc011alk.2_Missense_Mutation_p.F532Y|INPP5J_uc010gwg.3_Missense_Mutation_p.F164Y	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	599	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						AGCCTCGTGTTCTGGTTCGGG	0.577													A	31523945	T	A	31523945	3	1	146	1	0	0	0	0	1	0	0	0	7759	1783	62	5	718	5	INPP5J	22	31523945	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		31523945	19780621	82	9864											
DEPDC5	9681	broad.mit.edu	37	22	32239728	32239728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr22:32239728G>T	uc011alu.2	+	28	2933	c.2731G>T	c.(2731-2733)Gaa>Taa	p.E911*	DEPDC5_uc011als.2_Nonsense_Mutation_p.E833*|DEPDC5_uc003als.3_Nonsense_Mutation_p.E902*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.E902*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.E351*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.E232*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.E200*|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	902					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCTCCCACGAACGGCTGGA	0.498													T	32239728	G	T	32239728	4	4	146	1	0	0	0	0	0	1	0	0	4442	1059	37	5	2832	5	DEPDC5	22	32239728	Nonsense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	715783	32239728	19064838	83	9865											
MAGEB1	4112	broad.mit.edu	37	X	30269614	30269614	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chrX:30269614G>A	uc022buh.1	+	0	1004	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H	MAGEB1_uc004dcc.3_Missense_Mutation_p.R335H|MAGEB1_uc004dcd.3_Missense_Mutation_p.R335H|MAGEB1_uc004dce.3_Missense_Mutation_p.R335H	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	335										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTTAGAGCGCGTTCTAGAGCC	0.507													A	30269614	G	A	30269614	3	1	146	1	0	0	0	0	1	0	0	0	9172	1145	40	1	1006	1	MAGEB1	23	30269614	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		30269614	125000946	84	9866											
GRIA3	2892	broad.mit.edu	37	X	122460032	122460032	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chrX:122460032G>A	uc004etq.4	+	3	956	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	GRIA3_uc004etr.4_Missense_Mutation_p.E222K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E206K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	222					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GATTGACTGCGAAGTCGAAAG	0.423													A	122460032	G	A	122460032	3	1	146	1	0	0	0	0	1	0	0	0	6769	1059	37	2	678	2	GRIA3	23	122460032	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	92190418	122460032	32810528	85	9867											
MACF1	23499	broad.mit.edu	37	1	39761487	39761487	+	Missense_Mutation	SNP	T	T	G			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr1:39761487T>G	uc021olt.1	+	18	2355	c.2303T>G	c.(2302-2304)tTg>tGg	p.L768W	MACF1_uc021ols.1_Missense_Mutation_p.L768W|MACF1_uc001cdc.2_Missense_Mutation_p.L768W|MACF1_uc001cda.1_Missense_Mutation_p.L676W	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	768					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.K768K(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)			CAGTCCCAGTTGCAGTGGATG	0.433													G	39761487	T	G	39761487	3	3	147	1	0	0	0	0	1	0	0	0	9144	1821	63	5	2377	5	MACF1	1	39761487	Missense_Mutation	SNP	T	TCGA-15-1444-01A-02D-1696-08		39761487	209489134	1	9868											
PRG4	10216	broad.mit.edu	37	1	186277611	186277614	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr1:186277611_186277614delAGAA	uc001gru.4	+	6	2811_2814	c.2760_2763delAGAA	c.(2758-2763)acagaafs	p.T920fs	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Frame_Shift_Del_p.T879fs|PRG4_uc009wyl.3_Frame_Shift_Del_p.T827fs|PRG4_uc009wym.3_Frame_Shift_Del_p.T786fs|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	920					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACAAGACAACAGAAAGAGACTTAC	0.412													-	186277614	AGAA	-	186277611	7	5	147	1	0	1	0	1	0	0	0	0	12481	175	7	0	2782	0	PRG4	1	186277611	Frame_Shift_Del	DEL	AGAA	TCGA-15-1444-01A-02D-1696-08	146516124	186277611	62973010	2	9869											
ALK	238	broad.mit.edu	37	2	29917797	29917797	+	Missense_Mutation	SNP	G	G	A			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:29917797G>A	uc002rmy.3	-	2	1823	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	291	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGGATGCGGCGCCAGGACCAG	0.602			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				A	29917797	G	A	29917797	3	1	147	1	0	0	0	0	1	0	0	0	525	1087	38	1	4099	1	ALK	2	29917797	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		29917797	213281576	3	9870											
SFTPB	6439	broad.mit.edu	37	2	85892915	85892915	+	Silent	SNP	G	G	A			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:85892915G>A	uc002sqj.3	-	5	532	c.432C>T	c.(430-432)gaC>gaT	p.D144D	SFTPB_uc002sqi.3_Silent_p.D144D|SFTPB_uc002sqh.3_Silent_p.D144D	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	132	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TGCCGTTTGAGTCCTGGGGCA	0.642													A	85892915	G	A	85892915	2	1	147	1	0	0	0	0	0	0	0	1	14191	1020	36	3		3	SFTPB	2	85892915	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08	55975118	85892915	157306458	4	9871											
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:209113113G>C	uc002vcs.3	-	3	640	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	147	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08	123220198	209113113	34086260	5	9872											
DNAJC13	23317	broad.mit.edu	37	3	132198097	132198097	+	Silent	SNP	G	G	A	rs61748099	byFrequency	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr3:132198097G>A	uc003eor.3	+	24	2801	c.2736G>A	c.(2734-2736)agG>agA	p.R912R		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	912							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACGAGATAGGTTGATTCTCT	0.294													A	132198097	G	A	132198097	2	1	147	1	0	0	0	0	0	0	0	1	4632	1252	44	3		3	DNAJC13	3	132198097	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08		132198097	65824333	6	9873											
WDR1	9948	broad.mit.edu	37	4	10080542	10080542	+	Silent	SNP	G	G	A			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:10080542G>A	uc021xlv.1	-	11	1651	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G	WDR1_uc021xlw.1_Silent_p.G316G|WDR1_uc010idm.3_Non-coding_Transcript|MIR3138_uc021xlx.1_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	456					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCGTGTCCCCGCCGGGGTGCA	0.592													A	10080542	G	A	10080542	2	1	147	1	0	0	0	0	0	0	0	1	17269	1074	38	1		1	WDR1	4	10080542	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08		10080542	181073734	7	9874											
FRYL	285527	broad.mit.edu	37	4	48621289	48621289	+	Splice_Site	SNP	A	A	G			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:48621289A>G	uc003gyh.1	-	7	1016	c.411_splice	c.e7+1	p.Q137_splice	FRYL_uc003gyk.3_Splice_Site_p.Q137_splice|FRYL_uc003gyl.1_Missense_Mutation_p.V189A	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAAAGAGCTTACCTGCTTTAG	0.363													G	48621289	A	G	48621289	5	3	147	1	0	0	0	0	0	0	1	0	6064	405	14	4	8860	4	FRYL	4	48621289	Splice_Site	SNP	A	TCGA-15-1444-01A-02D-1696-08	38540747	48621289	142532987	8	9875											
NFKB1	4790	broad.mit.edu	37	4	103518775	103518775	+	Missense_Mutation	SNP	G	G	A	rs139575566		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:103518775G>A	uc011ceq.2	+	14	2058	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I	NFKB1_uc011cep.2_Missense_Mutation_p.V532I|NFKB1_uc011cer.2_Missense_Mutation_p.V351I	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	531	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V532I(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GCTGCTGGCCGTCCAGCGCCA	0.522													A	103518775	G	A	103518775	3	1	147	1	0	0	0	0	1	0	0	0	10375	1145	40	1	1648	1	NFKB1	4	103518775	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08	54897486	103518775	87635501	9	9876											
PIK3R1	5295	broad.mit.edu	37	5	67591098	67591109	+	In_Frame_Del	DEL	ACAGCATTAAAC	ACAGCATTAAAC	-			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr5:67591098_67591109delACAGCATTAAAC	uc003jva.3	+	12	2271_2282	c.1691_1702delACAGCATTAAAC	c.(1690-1704)aacagcattaaacca>aca	p.564_568NSIKP>T	PIK3R1_uc003jvc.3_In_Frame_Del_p.264_268NSIKP>T|PIK3R1_uc003jvd.3_In_Frame_Del_p.294_298NSIKP>T|PIK3R1_uc003jve.3_In_Frame_Del_p.243_247NSIKP>T|PIK3R1_uc021xzn.1_In_Frame_Del_p.201_205NSIKP>T|PIK3R1_uc011crb.2_In_Frame_Del_p.234_238NSIKP>T	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	564					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(4)|p.N564K(4)|p.K567E(3)|p.D560_S565del(2)|p.K567_L570delKPDL(2)|p.R562_M563ins13(1)|p.K267_L270delKPDL(1)|p.0?(1)|p.?(1)|p.K297E(1)|p.N294K(1)|p.N264K(1)|p.K267E(1)|p.K297_L300delKPDL(1)|p.N564fs*?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAACGTATGAACAGCATTAAACCAGACCTTAT	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591109	ACAGCATTAAAC	-	67591098	7	5	147	1	0	1	0	1	0	0	0	0	11918	43	2	0	1867	0	PIK3R1	5	67591098	In_Frame_Del	DEL	ACAGCATTAAAC	TCGA-15-1444-01A-02D-1696-08		67591098	113324162	10	9877											
GRINA	2907	broad.mit.edu	37	8	145065758	145065758	+	Missense_Mutation	SNP	C	C	G			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr8:145065758C>G	uc003zan.1	+	1	533	c.367C>G	c.(367-369)Caa>Gaa	p.Q123E	GRINA_uc003zao.1_Missense_Mutation_p.Q123E|GRINA_uc003zap.1_Missense_Mutation_p.Q123E	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	123	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCCCAGGACAAGACCCTGA	0.672													G	145065758	C	G	145065758	3	3	147	1	0	0	0	0	1	0	0	0	6785	479	17	5	369	5	GRINA	8	145065758	Missense_Mutation	SNP	C	TCGA-15-1444-01A-02D-1696-08		145065758	1298264	11	9878											
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr9:12702411_12702414delACAA	uc003zkv.4	+	4	1232_1235	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.T352fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(4)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				-	12702414	ACAA	-	12702411	7	5	147	1	0	1	0	1	0	0	0	0	16813	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-15-1444-01A-02D-1696-08		12702411	128511020	12	9879											
ITIH2	3698	broad.mit.edu	37	10	7771922	7771922	+	Silent	SNP	A	A	T			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr10:7771922A>T	uc001ijs.3	+	11	1449	c.1287A>T	c.(1285-1287)ctA>ctT	p.L429L		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	429	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGGCGAACTAAAACTGTCAA	0.373													T	7771922	A	T	7771922	2	4	147	1	0	0	0	0	0	0	0	1	7904	349	13	5		5	ITIH2	10	7771922	Silent	SNP	A	TCGA-15-1444-01A-02D-1696-08		7771922	127762825	13	9880											
CLPB	81570	broad.mit.edu	37	11	72012979	72012979	+	Frame_Shift_Del	DEL	G	G	-			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr11:72012979delG	uc001osj.3	-	11	1337	c.1287delC	c.(1285-1287)ggcfs	p.G429fs	CLPB_uc010rqx.2_Frame_Shift_Del_p.G384fs|CLPB_uc010rqy.2_Frame_Shift_Del_p.G370fs|CLPB_uc001osk.3_Frame_Shift_Del_p.G399fs|CLPB_uc010rqz.2_Frame_Shift_Del_p.G228fs|CLPB_uc001osi.3_Frame_Shift_Del_p.G37fs	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	429					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGCCAACGTAGCCTGGTGGAG	0.522													-	72012979	G	-	72012979	7	5	147	1	0	1	0	1	0	0	0	0	3551	958	34	0	860	0	CLPB	11	72012979	Frame_Shift_Del	DEL	G	TCGA-15-1444-01A-02D-1696-08		72012979	62993537	14	9881											
HEPHL1	341208	broad.mit.edu	37	11	93844970	93844970	+	Silent	SNP	G	G	A	rs118037969	by1000genomes	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr11:93844970G>A	uc001pep.2	+	19	3547	c.3390G>A	c.(3388-3390)acG>acA	p.T1130T	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	1130					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.L1130P(1)|p.T1134T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAATCACCACGGTGATTCTCT	0.507													A	93844970	G	A	93844970	2	1	147	1	0	0	0	0	0	0	0	1	7055	1103	39	2		2	HEPHL1	11	93844970	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08	21831991	93844970	41161546	15	9882											
AMN1	196394	broad.mit.edu	37	12	31850308	31850308	+	Missense_Mutation	SNP	G	G	A			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr12:31850308G>A	uc001rkq.4	-	4	744	c.578C>T	c.(577-579)gCg>gTg	p.A193V	AMN1_uc001rko.4_Missense_Mutation_p.A175V|AMN1_uc010skc.2_Missense_Mutation_p.A175V|AMN1_uc009zjs.3_Non-coding_Transcript|AMN1_uc009zjt.1_Non-coding_Transcript	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	Homo sapiens antagonist of mitotic exit network 1 homolog (S. cerevisiae) (AMN1), transcript variant 1, mRNA.	193										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			TAATTTCTTCGCACAAGGTCC	0.338													A	31850308	G	A	31850308	3	1	147	1	0	0	0	0	1	0	0	0	581	1087	38	1	210	1	AMN1	12	31850308	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		31850308	102001587	16	9883											
MARCH9	92979	broad.mit.edu	37	12	58152585	58152585	+	Missense_Mutation	SNP	A	A	G			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr12:58152585A>G	uc001spx.2	+	3	1377	c.946A>G	c.(946-948)Aca>Gca	p.T316A	MARCH9_uc001spy.3_Missense_Mutation_p.T203A	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	316						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGCGGTTATACAATCTTGCA	0.652													G	58152585	A	G	58152585	3	3	147	1	0	0	0	0	1	0	0	0	9308	391	14	4	960	4	MARCH9	12	58152585	Missense_Mutation	SNP	A	TCGA-15-1444-01A-02D-1696-08	26302277	58152585	75699310	17	9884											
PMFBP1	83449	broad.mit.edu	37	16	72184633	72184633	+	Silent	SNP	C	C	T			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr16:72184633C>T	uc002fcc.4	-	4	682	c.510G>A	c.(508-510)aaG>aaA	p.K170K	PMFBP1_uc002fcd.3_Silent_p.K170K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.K25K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	170										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGAGGCGATCTTGTCCCCGG	0.498													T	72184633	C	T	72184633	2	4	147	1	0	0	0	0	0	0	0	1	12134	912	32	3		3	PMFBP1	16	72184633	Silent	SNP	C	TCGA-15-1444-01A-02D-1696-08		72184633	18170120	18	9885											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	147	1	0	0	0	0	1	0	0	0	16378	1115	39	2	548	2	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		7577539	73617671	19	9886											
BRIP1	83990	broad.mit.edu	37	17	59876469	59876469	+	Silent	SNP	G	G	A			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr17:59876469G>A	uc002izk.2	-	8	1638	c.1332C>T	c.(1330-1332)agC>agT	p.S444S		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	444					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTTAATGAGGCTACAGCACA	0.358			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					A	59876469	G	A	59876469	2	1	147	1	0	0	0	0	0	0	0	1	1514	1194	42	3		3	BRIP1	17	59876469	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08	52298930	59876469	21318741	20	9887											
COLEC12	81035	broad.mit.edu	37	18	334801	334801	+	Missense_Mutation	SNP	G	G	A			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr18:334801G>A	uc002kkm.3	-	5	1972	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	586	Collagen-like 3.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CACCGCTCCTGATGGGCCAGG	0.701													A	334801	G	A	334801	3	1	147	1	0	0	0	0	1	0	0	0	3712	1294	45	3	491	3	COLEC12	18	334801	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		334801	77742447	21	9888											
ATRX	546	broad.mit.edu	37	X	76814207	76814208	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chrX:76814207_76814208delTG	uc004ecp.4	-	28	6668_6669	c.6436_6437delCA	c.(6436-6438)cagfs	p.Q2146fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Q2108fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q1931fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2146	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAATATACTCTGGATGTCATAA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76814208	TG	-	76814207	7	5	147	1	0	1	0	1	0	0	0	0	1208	1580	55	0	1069	0	ATRX	23	76814207	Frame_Shift_Del	DEL	TG	TCGA-15-1444-01A-02D-1696-08		76814207	78456353	22	9889											
SERINC2	347735	broad.mit.edu	37	1	31905860	31905860	+	Missense_Mutation	SNP	G	G	A	rs139208281	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:31905860G>A	uc021okm.1	+	9	1360	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	SERINC2_uc010ogg.2_Missense_Mutation_p.E358K|SERINC2_uc001bst.3_Missense_Mutation_p.E354K|SERINC2_uc001bsu.3_Missense_Mutation_p.E299K|SERINC2_uc010ogh.2_Missense_Mutation_p.E358K	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	354						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GATGCAGACCGAGGAGTGCCC	0.617													A	31905860	G	A	31905860	3	1	148	1	0	0	0	0	1	0	0	0	14080	1059	37	2	1094	2	SERINC2	1	31905860	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		31905860	217344761	1	9890											
ZC3H12A	80149	broad.mit.edu	37	1	37948876	37948876	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:37948876C>T	uc001cbb.4	+	5	1614	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G	ZC3H12A_uc001cbc.1_Silent_p.G283G	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	488	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTGGCCGGGCCATGG	0.662													T	37948876	C	T	37948876	2	4	148	1	0	0	0	0	0	0	0	1	17558	726	26	3		3	ZC3H12A	1	37948876	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	6043016	37948876	211301745	2	9891											
MFSD2A	84879	broad.mit.edu	37	1	40432533	40432533	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:40432533C>T	uc001cev.3	+	7	1076	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	MFSD2A_uc010ojb.1_Missense_Mutation_p.R247W|MFSD2A_uc001ceu.3_Missense_Mutation_p.R286W|MFSD2A_uc010ojc.2_Missense_Mutation_p.R130W|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	299					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGGGGCCTACGGCTGGTCAT	0.572													T	40432533	C	T	40432533	3	4	148	1	0	0	0	0	1	0	0	0	9530	527	19	1	925	1	MFSD2A	1	40432533	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	2483657	40432533	208818088	3	9892											
FAM151A	338094	broad.mit.edu	37	1	55078368	55078368	+	Silent	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:55078368G>T	uc001cxn.3	-	4	723	c.591C>A	c.(589-591)gtC>gtA	p.V197V	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	197						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ACTTCTCCTGGACCAGGGCCA	0.562													T	55078368	G	T	55078368	2	4	148	1	0	0	0	0	0	0	0	1	5458	1161	41	5		5	FAM151A	1	55078368	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	14645835	55078368	194172253	4	9893											
TM2D1	83941	broad.mit.edu	37	1	62190705	62190705	+	Missense_Mutation	SNP	T	T	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:62190705T>A	uc001czz.1	-	0	391	c.88A>T	c.(88-90)Aca>Tca	p.T30S		NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN	Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.	30					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CAGGGTCCTGTAGTGACTGAG	0.647													A	62190705	T	A	62190705	3	1	148	1	0	0	0	0	1	0	0	0	15960	1638	57	5	559	5	TM2D1	1	62190705	Missense_Mutation	SNP	T	TCGA-16-0846-01A-01W-0424-08	7112337	62190705	187059916	5	9894											
HRNR	388697	broad.mit.edu	37	1	152193139	152193139	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:152193139G>A	uc001ezt.1	-	2	1042	c.966C>T	c.(964-966)caC>caT	p.H322H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	322					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGGCCGTGGCTGGAGG	0.607													A	152193139	G	A	152193139	2	1	148	1	0	0	0	0	0	0	0	1	7359	1136	40	1		1	HRNR	1	152193139	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	90002434	152193139	97057482	6	9895											
GON4L	55249	broad.mit.edu	37	1	155629971	155629971	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:155629971A>T	uc010pgi.2	-	9	2336	c.2144T>A	c.(2143-2145)gTc>gAc	p.V715D	GON4L_uc021paz.1_Missense_Mutation_p.V557D|GON4L_uc010pgg.2_Missense_Mutation_p.V462D|GON4L_uc010pgh.2_Missense_Mutation_p.V566D|GON4L_uc009wqt.3_Missense_Mutation_p.V546D|GON4L_uc001flh.3_Missense_Mutation_p.V695D|GON4L_uc001fll.3_Missense_Mutation_p.V577D|GON4L_uc001flk.3_Missense_Mutation_p.V566D|GON4L_uc001flm.3_Missense_Mutation_p.V566D|GON4L_uc009wqu.3_Missense_Mutation_p.V410D|GON4L_uc009wqv.3_Missense_Mutation_p.V294D|GON4L_uc009wqw.3_Missense_Mutation_p.V546D|GON4L_uc001flj.3_Missense_Mutation_p.V557D|GON4L_uc001fli.3_Missense_Mutation_p.V577D|GON4L_uc001flo.3_Missense_Mutation_p.V511D|GON4L_uc001fln.3_Missense_Mutation_p.V623D|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.V577D	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1167					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCCGCATTGACAGGCTGGAT	0.557													T	155629971	A	T	155629971	3	4	148	1	0	0	0	0	1	0	0	0	6572	275	10	5		5	GON4L	1	155629971	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	3436832	155629971	93620650	7	9896											
OLFML2B	25903	broad.mit.edu	37	1	161987297	161987297	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:161987297G>A	uc010pkq.2	-	3	863	c.439_splice	c.e3-1	p.L147_splice	OLFML2B_uc001gbu.3_Splice_Site_p.L147_splice	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	147										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATTGTGGAGAGCTATGAAACA	0.522													A	161987297	G	A	161987297	3	1	148	1	0	0	0	0	1	0	0	0	10858	985	34	3	1837	3	OLFML2B	1	161987297	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	6357326	161987297	87263324	8	9897											
LGR6	59352	broad.mit.edu	37	1	202249926	202249926	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:202249926G>A	uc001gxu.3	+	5	662	c.662G>A	c.(661-663)cGc>cAc	p.R221H	LGR6_uc001gxv.3_Missense_Mutation_p.R169H|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Intron|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	221						integral to membrane|plasma membrane	protein-hormone receptor activity	p.R221H(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CATAACAACCGCATCCAGCAT	0.567													A	202249926	G	A	202249926	3	1	148	1	0	0	0	0	1	0	0	0	8758	1087	38	1	831	1	LGR6	1	202249926	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	40262629	202249926	47000695	9	9898											
LAMB3	3914	broad.mit.edu	37	1	209797264	209797264	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:209797264G>A	uc001hhg.3	-	13	2448	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	LAMB3_uc009xco.3_Silent_p.D686D|LAMB3_uc001hhh.3_Silent_p.D686D|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	686	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGAAGCTTCTGTCAAGACTCT	0.547													A	209797264	G	A	209797264	2	1	148	1	0	0	0	0	0	0	0	1	8612	1368	48	3		3	LAMB3	1	209797264	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	7547338	209797264	39453357	10	9899											
BCL11A	53335	broad.mit.edu	37	2	60688453	60688453	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:60688453C>T	uc002sae.1	-	3	1822	c.1594G>A	c.(1594-1596)Gcg>Acg	p.A532T	BCL11A_uc002sab.3_Missense_Mutation_p.A532T|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.A201T|BCL11A_uc010ypj.2_Missense_Mutation_p.A498T|BCL11A_uc002sad.1_Missense_Mutation_p.A380T|BCL11A_uc002saf.1_Missense_Mutation_p.A498T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	532					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCCACGACCGCGCCCCGCGAG	0.697			T	IGH@	B-CLL								T	60688453	C	T	60688453	3	4	148	1	0	0	0	0	1	0	0	0	1363	768	27	1	1023	1	BCL11A	2	60688453	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		60688453	182510920	11	9900											
MYO7B	4648	broad.mit.edu	37	2	128370138	128370138	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:128370138C>T	uc002top.3	+	24	3333	c.3280C>T	c.(3280-3282)Cac>Tac	p.H1094Y		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1094	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			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)		GGAGAAGGTGCACTTCATCGT	0.602													T	128370138	C	T	128370138	3	4	148	1	0	0	0	0	1	0	0	0	10083	710	25	3	3374	3	MYO7B	2	128370138	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	67681685	128370138	114829235	12	9901											
SCN9A	6335	broad.mit.edu	37	2	167056246	167056246	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:167056246A>T	uc010fpl.3	-	26	5211	c.4870T>A	c.(4870-4872)Ttt>Att	p.F1624I	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1635						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1624V(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCAAAGCAAAGAGCAGCGTG	0.507													T	167056246	A	T	167056246	3	4	148	1	0	0	0	0	1	0	0	0	13925	72	3	5	1067	5	SCN9A	2	167056246	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	38686108	167056246	76143127	13	9902											
HOXD4	3233	broad.mit.edu	37	2	177017342	177017342	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:177017342C>T	uc002uks.3	+	1	689	c.440C>T	c.(439-441)cCc>cTc	p.P147L		NM_014621	NP_055436	P09016	HXD4_HUMAN	Homo sapiens homeobox D4 (HOXD4), mRNA.	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCAGTGAACCCCAACTACACC	0.597													T	177017342	C	T	177017342	3	4	148	1	0	0	0	0	1	0	0	0	7324	623	22	3	446	3	HOXD4	2	177017342	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	9961096	177017342	66182031	14	9903											
COL3A1	1281	broad.mit.edu	37	2	189858803	189858803	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:189858803G>A	uc002uqj.1	+	16	1306	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	397	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			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)	TGGTAAAGGCGAAATGGTAAG	0.373													A	189858803	G	A	189858803	3	1	148	1	0	0	0	0	1	0	0	0	3688	1059	37	2	1255	2	COL3A1	2	189858803	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	12841461	189858803	53340570	15	9904											
PRKAG3	53632	broad.mit.edu	37	2	219689035	219689035	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:219689035C>T	uc002vjb.1	-	11	1282	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	421					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTCTGCCTCAGGGCTTCTC	0.597													T	219689035	C	T	219689035	2	4	148	1	0	0	0	0	0	0	0	1	12502	813	29	3		3	PRKAG3	2	219689035	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	29830232	219689035	23510338	16	9905											
GRM7	2917	broad.mit.edu	37	3	6903256	6903256	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr3:6903256G>T	uc003bqm.2	+	0	455	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G61C|GRM7_uc003bql.2_Missense_Mutation_p.G61C	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	61					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCACGCCAAGGGTCCCAGCGG	0.672													T	6903256	G	T	6903256	3	4	148	1	0	0	0	0	1	0	0	0	6802	1232	43	5	183	5	GRM7	3	6903256	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		6903256	191119174	17	9906											
CD38	952	broad.mit.edu	37	4	15835885	15835885	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr4:15835885A>G	uc003gol.1	+	3	652	c.545A>G	c.(544-546)aAc>aGc	p.N182S	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	182					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GACTGCAGCAACAACCCTGTT	0.388													G	15835885	A	G	15835885	3	3	148	1	0	0	0	0	1	0	0	0	3009	43	2	4	559	4	CD38	4	15835885	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08		15835885	175318391	18	9907											
GALNT7	51809	broad.mit.edu	37	4	174219326	174219326	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr4:174219326C>T	uc003isz.4	+	5	1109	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	GALNT7_uc011ckb.2_Intron	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	342					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AAATTATACCCCAAGGGGGTG	0.473													T	174219326	C	T	174219326	2	4	148	1	0	0	0	0	0	0	0	1	6218	610	22	3		3	GALNT7	4	174219326	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	158383441	174219326	16934950	19	9908											
C9	735	broad.mit.edu	37	5	39316092	39316092	+	Missense_Mutation	SNP	C	C	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:39316092C>G	uc003jlv.4	-	5	744	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	219	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCAATTTGTTCTTCGTAATGT	0.303													G	39316092	C	G	39316092	3	3	148	1	0	0	0	0	1	0	0	0	2443	922	32	5	1048	5	C9	5	39316092	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		39316092	141599168	20	9909											
HEATR7B2	133558	broad.mit.edu	37	5	41061824	41061824	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:41061824G>T	uc003jmj.4	-	5	953	c.463C>A	c.(463-465)Ctt>Att	p.L155I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.L155I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	155							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AATTTCTCAAGGGCTGCATTT	0.398													T	41061824	G	T	41061824	3	4	148	1	0	0	0	0	1	0	0	0	7035	1000	35	5	4442	5	HEATR7B2	5	41061824	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	1745732	41061824	139853436	21	9910											
POLR3G	10622	broad.mit.edu	37	5	89802453	89802453	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:89802453G>A	uc003kjq.3	+	6	747	c.547G>A	c.(547-549)Gca>Aca	p.A183T	POLR3G_uc011cuc.2_Missense_Mutation_p.A183T	NM_006467	NP_006458	O15318	RPC7_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD) (POLR3G), mRNA.	183	Glu-rich.				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		cgatgatgccgcagaacagga	0.368													A	89802453	G	A	89802453	3	1	148	1	0	0	0	0	1	0	0	0	12234	1087	38	1	569	1	POLR3G	5	89802453	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	48740629	89802453	91112807	22	9911											
C5orf46	389336	broad.mit.edu	37	5	147286057	147286057	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:147286057A>C	uc010jgp.3	-	0	45	c.8T>G	c.(7-9)gTc>gGc	p.V3G	C5orf46_uc003lou.3_Missense_Mutation_p.V3G|C5orf46_uc003lov.4_Missense_Mutation_p.V3G	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN	Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.	3						extracellular region				NS(1)|lung(1)|prostate(1)	3						AAGTACTGAGACAGCCATTCT	0.453													C	147286057	A	C	147286057	3	2	148	1	0	0	0	0	1	0	0	0	2305	275	10	5	267	5	C5orf46	5	147286057	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	57483604	147286057	33629203	23	9912											
SH3TC2	79628	broad.mit.edu	37	5	148427540	148427540	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:148427540G>C	uc003lpu.3	-	2	316	c.164C>G	c.(163-165)tCc>tGc	p.S55C	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.S55C|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.S55C	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	55							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACAGAAGGAGAGTGTCAG	0.498													C	148427540	G	C	148427540	3	2	148	1	0	0	0	0	1	0	0	0	14262	1174	41	5	3762	5	SH3TC2	5	148427540	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	1141483	148427540	32487720	24	9913											
KIAA0319	9856	broad.mit.edu	37	6	24563628	24563628	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr6:24563628C>T	uc011djo.2	-	15	3050	c.2550G>A	c.(2548-2550)tcG>tcA	p.S850S	KIAA0319_uc011djp.2_Silent_p.S805S|KIAA0319_uc003neh.1_Silent_p.S850S|KIAA0319_uc011djq.1_Silent_p.S841S|KIAA0319_uc011djr.1_Silent_p.S850S|KIAA0319_uc010jpt.1_Silent_p.S261S	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	850					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCTTAATGTCCGAGTCCAGCA	0.587													T	24563628	C	T	24563628	2	4	148	1	0	0	0	0	0	0	0	1	8168	639	23	2		2	KIAA0319	6	24563628	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08		24563628	146551439	25	9914											
PHACTR2	9749	broad.mit.edu	37	6	144033221	144033221	+	Missense_Mutation	SNP	T	T	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr6:144033221T>C	uc010khi.3	+	1	314	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	PHACTR2_uc003qjq.4_Missense_Mutation_p.F28L|PHACTR2_uc010khh.3_Missense_Mutation_p.F28L|PHACTR2_uc003qjr.4_Missense_Mutation_p.F39L	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	28							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AACACCTCCCTTCAAAAGAAA	0.433													C	144033221	T	C	144033221	3	2	148	1	0	0	0	0	1	0	0	0	11810	1609	56	4	138	4	PHACTR2	6	144033221	Missense_Mutation	SNP	T	TCGA-16-0846-01A-01W-0424-08	119469593	144033221	27081846	26	9915											
SDK1	221935	broad.mit.edu	37	7	4213951	4213951	+	Missense_Mutation	SNP	C	C	T	rs140602039		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:4213951C>T	uc003smx.3	+	32	5037	c.4898C>T	c.(4897-4899)aCg>aTg	p.T1633M	SDK1_uc010kso.3_Missense_Mutation_p.T909M|SDK1_uc003smy.3_Missense_Mutation_p.T120M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1633	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGGCCAAGACGCTCAAAAAC	0.562													T	4213951	C	T	4213951	3	4	148	1	0	0	0	0	1	0	0	0	13968	536	19	1	5028	1	SDK1	7	4213951	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		4213951	154924712	27	9916											
CPVL	54504	broad.mit.edu	37	7	29160576	29160576	+	Silent	SNP	T	T	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:29160576T>C	uc003szv.3	-	1	221	c.102A>G	c.(100-102)ccA>ccG	p.P34P	CPVL_uc003szw.3_Silent_p.P34P|CPVL_uc003szx.3_Silent_p.P34P	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	34					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTCCCTTAGGTGGCATGGAAA	0.468													C	29160576	T	C	29160576	2	2	148	1	0	0	0	0	0	0	0	1	3835	1683	59	4		4	CPVL	7	29160576	Silent	SNP	T	TCGA-16-0846-01A-01W-0424-08	24946625	29160576	129978087	28	9917											
AEBP1	165	broad.mit.edu	37	7	44148536	44148536	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:44148536G>A	uc003tkb.3	+	6	1284	c.979G>A	c.(979-981)Gat>Aat	p.D327N	AEBP1_uc003tkc.4_5'Flank|AEBP1_uc022aci.1_5'Flank|AEBP1_uc003tkd.3_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	327					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAGAAGCCCGATGCTGAGCG	0.652													A	44148536	G	A	44148536	3	1	148	1	0	0	0	0	1	0	0	0	349	1058	37	2	1005	2	AEBP1	7	44148536	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	14987960	44148536	114990127	29	9918											
ZNF680	340252	broad.mit.edu	37	7	64004099	64004099	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:64004099A>G	uc003tta.2	-	2	412	c.239T>C	c.(238-240)gTa>gCa	p.V80A	ZNF680_uc003ttb.2_Missense_Mutation_p.V80A	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	80	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GGGTTTGGCTACCATCTCCTG	0.428													G	64004099	A	G	64004099	3	3	148	1	0	0	0	0	1	0	0	0	18084	391	14	4	1484	4	ZNF680	7	64004099	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	19855563	64004099	95134564	30	9919											
ZAN	7455	broad.mit.edu	37	7	100377161	100377161	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:100377161G>A	uc003uwj.3	+	35	6573	c.6408G>A	c.(6406-6408)gcG>gcA	p.A2136A	ZAN_uc003uwk.3_Silent_p.A2136A|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.A224A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2137	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			TCCGCAGGGCGCGGGAAAAGT	0.637													A	100377161	G	A	100377161	2	1	148	1	0	0	0	0	0	0	0	1	17510	1074	38	1		1	ZAN	7	100377161	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	36373062	100377161	58761502	31	9920											
MUC17	140453	broad.mit.edu	37	7	100674926	100674926	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:100674926G>A	uc003uxp.1	+	2	282	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	77						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					TACAAATGTCGTGGAGCCAAG	0.448													A	100674926	G	A	100674926	3	1	148	1	0	0	0	0	1	0	0	0	9974	1145	40	1	239	1	MUC17	7	100674926	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	297765	100674926	58463737	32	9921											
RELN	5649	broad.mit.edu	37	7	103124180	103124180	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:103124180G>A	uc022ajr.1	-	61	10261	c.10101C>T	c.(10099-10101)aaC>aaT	p.N3367N	RELN_uc022ajq.1_Silent_p.N3367N|RELN_uc010liz.3_Silent_p.N3367N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3367					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			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)		AGGTGATCCCGTTGTTGACGC	0.552													A	103124180	G	A	103124180	2	1	148	1	0	0	0	0	0	0	0	1	13220	1136	40	1		1	RELN	7	103124180	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	2449254	103124180	56014483	33	9922											
PUS7	54517	broad.mit.edu	37	7	105111170	105111170	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:105111170A>C	uc010lji.3	-	10	1389	c.1381T>G	c.(1381-1383)Tat>Gat	p.Y461D	PUS7_uc003vcx.3_Missense_Mutation_p.Y455D|PUS7_uc003vcy.3_Missense_Mutation_p.Y455D|PUS7_uc003vcz.1_Missense_Mutation_p.Y455D	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	455	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCATTCCATATTTTGAAAGT	0.423													C	105111170	A	C	105111170	3	2	148	1	0	0	0	0	1	0	0	0	12833	449	16	5	646	5	PUS7	7	105111170	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	1986990	105111170	54027493	34	9923											
GIMAP7	168537	broad.mit.edu	37	7	150217096	150217096	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:150217096G>A	uc003whk.3	+	1	164	c.34G>A	c.(34-36)Gtt>Att	p.V12I	GIMAP7_uc022apu.1_Missense_Mutation_p.V12I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	12							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGAGGATCGTTCTGGTAGG	0.498													A	150217096	G	A	150217096	3	1	148	1	0	0	0	0	1	0	0	0	6384	1145	40	1	36	1	GIMAP7	7	150217096	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	45105926	150217096	8921567	35	9924											
INTS9	55756	broad.mit.edu	37	8	28627526	28627526	+	Silent	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:28627526G>T	uc003xha.3	-	15	1979	c.1680C>A	c.(1678-1680)gcC>gcA	p.A560A	INTS9_uc011lav.2_Silent_p.A536A|INTS9_uc011law.2_Silent_p.A539A|INTS9_uc011lax.2_Silent_p.A453A|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	560					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TCGTGGGCTGGGCGGGCCGAG	0.602											OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28627526	G	T	28627526	2	4	148	1	0	0	0	0	0	0	0	1	7785	1219	43	5		5	INTS9	8	28627526	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08		28627526	117736496	36	9925											
PRKDC	5591	broad.mit.edu	37	8	48772255	48772255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:48772255G>A	uc003xqi.3	-	46	6178	c.6121C>T	c.(6121-6123)Caa>Taa	p.Q2041*	PRKDC_uc003xqj.3_Nonsense_Mutation_p.Q2041*	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2042					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.M2040I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAATCAAATTGACTCATTTCC	0.423								Non-homologous end-joining					A	48772255	G	A	48772255	4	1	148	1	0	0	0	0	0	1	0	0	12521	1299	45	3	6426	3	PRKDC	8	48772255	Nonsense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	20144729	48772255	97591767	37	9926											
RP1	6101	broad.mit.edu	37	8	55540932	55540932	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:55540932A>T	uc003xsd.1	+	3	4638	c.4490A>T	c.(4489-4491)gAg>gTg	p.E1497V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1497					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.E1497E(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)			ATCCAAGAAGAGGTAGAGGCT	0.313													T	55540932	A	T	55540932	3	4	148	1	0	0	0	0	1	0	0	0	13532	304	11	5	4500	5	RP1	8	55540932	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	6768677	55540932	90823090	38	9927											
TRPA1	8989	broad.mit.edu	37	8	72973980	72973980	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:72973980G>A	uc003xza.3	-	6	999	c.824C>T	c.(823-825)gCc>gTc	p.A275V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	275						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)	AAAATGAATGGCTGTGCACCT	0.393													A	72973980	G	A	72973980	3	1	148	1	0	0	0	0	1	0	0	0	16574	1203	42	3	2619	3	TRPA1	8	72973980	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	17433048	72973980	73390042	39	9928											
MAPK15	225689	broad.mit.edu	37	8	144801307	144801307	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:144801307G>T	uc003yzj.3	+	5	603	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	188	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCACCGGAGGTGCTGCTCTC	0.687													T	144801307	G	T	144801307	3	4	148	1	0	0	0	0	1	0	0	0	9277	1261	44	5	584	5	MAPK15	8	144801307	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	71827327	144801307	1562715	40	9929											
NCBP1	4686	broad.mit.edu	37	9	100433448	100433448	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr9:100433448C>T	uc004axq.3	+	22	2799	c.2340C>T	c.(2338-2340)gcC>gcT	p.A780A		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	780					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	p.A780A(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				ATATCTTGGCCGTGTTCCAGC	0.423													T	100433448	C	T	100433448	2	4	148	1	0	0	0	0	0	0	0	1	10211	639	23	2		2	NCBP1	9	100433448	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08		100433448	40779983	41	9930											
VDAC2	7417	broad.mit.edu	37	10	76970926	76970926	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:76970926C>T	uc001jxa.3	+	1					VDAC2_uc021ptp.1_Missense_Mutation_p.H4Y|VDAC2_uc010qld.2_5'UTR|VDAC2_uc001jwz.3_Missense_Mutation_p.H4Y|VDAC2_uc010qle.2_5'UTR	NM_001184783	NP_001171712	P45880	VDAC2_HUMAN	Homo sapiens voltage-dependent anion channel 2 (VDAC2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	CATGGCGACCCACGGACAGAC	0.627													T	76970926	C	T	76970926	3	4	148	1	0	0	0	0	1	0	0	0	17144	594	21	3	12	3	VDAC2	10	76970926	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		76970926	58563821	42	9931											
PTEN	5728	broad.mit.edu	37	10	89690846	89690846	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:89690846G>T	uc001kfb.3	+	4	1285	c.253_splice	c.e4+1	p.V85_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	85	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.C71fs*6(2)|p.L70fs*7(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAATTGCAGAGGTAGGTATGA	0.318		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89690846	G	T	89690846	3	4	148	1	0	0	0	0	1	0	0	0	12738	1014	35	5	267	5	PTEN	10	89690846	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	12719920	89690846	45843901	43	9932											
SEC23IP	11196	broad.mit.edu	37	10	121668628	121668628	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:121668628A>G	uc001leu.2	+	4	1387	c.1177A>G	c.(1177-1179)Atg>Gtg	p.M393V	SEC23IP_uc010qtc.2_Missense_Mutation_p.M182V	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	393					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GACAATTGTTATGCACAATCC	0.303													G	121668628	A	G	121668628	3	3	148	1	0	0	0	0	1	0	0	0	13993	449	16	4	1195	4	SEC23IP	10	121668628	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	31977782	121668628	13866119	44	9933											
TH	7054	broad.mit.edu	37	11	2186970	2186970	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:2186970G>A	uc001lvq.3	-	11	1240	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TH_uc001lvp.3_Silent_p.F403F|TH_uc001lvr.3_Silent_p.F376F|TH_uc010qxj.2_Silent_p.F380F|TH_uc001lvs.3_Silent_p.F282F|TH_uc001lvt.3_Silent_p.F286F|TH_uc009ydh.1_Non-coding_Transcript	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	407					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TACACAGCCCGAACTCCACCG	0.667													A	2186970	G	A	2186970	2	1	148	1	0	0	0	0	0	0	0	1	15835	1049	37	2		2	TH	11	2186970	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08		2186970	132819546	45	9934											
OR51A4	401666	broad.mit.edu	37	11	4967921	4967921	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:4967921A>G	uc010qys.2	-	0	410	c.410T>C	c.(409-411)aTc>aCc	p.I137T		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTTGTCAGGATTGAGGTGTA	0.428													G	4967921	A	G	4967921	3	3	148	1	0	0	0	0	1	0	0	0	11087	333	12	4	533	4	OR51A4	11	4967921	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	2780951	4967921	130038595	46	9935											
NAV2	89797	broad.mit.edu	37	11	19961278	19961278	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:19961278A>G	uc010rdm.2	+	8	2535	c.2174A>G	c.(2173-2175)cAc>cGc	p.H725R	NAV2_uc001mpp.3_Missense_Mutation_p.H638R|NAV2_uc001mpr.4_Missense_Mutation_p.H702R|NAV2_uc021qew.1_Missense_Mutation_p.H702R	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	725						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGCCCAGCCACTTCACCAAG	0.532													G	19961278	A	G	19961278	3	3	148	1	0	0	0	0	1	0	0	0	10184	159	6	4	2214	4	NAV2	11	19961278	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	14993357	19961278	115045238	47	9936											
BIN2	51411	broad.mit.edu	37	12	51696870	51696870	+	Splice_Site	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:51696870C>T	uc001ryg.3	-	3	269	c.217_splice	c.e3+1	p.V73_splice	BIN2_uc009zlz.3_Splice_Site_p.V73_splice|BIN2_uc001ryh.3_Splice_Site|BIN2_uc010sng.2_Splice_Site_p.V47_splice	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	73	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GCATTGCCCACCTTTGACTGC	0.433													T	51696870	C	T	51696870	5	4	148	1	0	0	0	0	0	0	1	0	1433	521	18	3	1523	3	BIN2	12	51696870	Splice_Site	SNP	C	TCGA-16-0846-01A-01W-0424-08		51696870	82155025	48	9937											
OR6C75	390323	broad.mit.edu	37	12	55759400	55759400	+	Missense_Mutation	SNP	C	C	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:55759400C>G	uc010spk.2	+	0	506	c.506C>G	c.(505-507)tCc>tGc	p.S169C		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTGTGCCTCCAATGTAATT	0.433													G	55759400	C	G	55759400	3	3	148	1	0	0	0	0	1	0	0	0	11199	855	30	5	508	5	OR6C75	12	55759400	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	4062530	55759400	78092495	49	9938											
FGD6	55785	broad.mit.edu	37	12	95604181	95604181	+	Silent	SNP	T	T	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:95604181T>C	uc001tdp.4	-	1	1103	c.879A>G	c.(877-879)tcA>tcG	p.S293S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	293					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTTTGACTTCTGATTTCTTAC	0.388													C	95604181	T	C	95604181	2	2	148	1	0	0	0	0	0	0	0	1	5837	1567	55	4		4	FGD6	12	95604181	Silent	SNP	T	TCGA-16-0846-01A-01W-0424-08	39844781	95604181	38247714	50	9939											
TBX5	6910	broad.mit.edu	37	12	114804065	114804065	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:114804065C>A	uc001tvo.3	-	7	1382	c.887G>T	c.(886-888)gGt>gTt	p.G296V	TBX5_uc001tvp.3_Missense_Mutation_p.G296V|TBX5_uc001tvq.3_Missense_Mutation_p.G246V|TBX5_uc010syv.2_Missense_Mutation_p.G296V	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	296					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCGGAAACACCATTCTCACA	0.552													A	114804065	C	A	114804065	3	1	148	1	0	0	0	0	1	0	0	0	15658	507	18	5	744	5	TBX5	12	114804065	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	19199884	114804065	19047830	51	9940											
FAM124A	220108	broad.mit.edu	37	13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr13:51825705G>A	uc001vff.2	+	3	478	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	FAM124A_uc001vfe.3_Missense_Mutation_p.V68I|FAM124A_uc001vfg.2_Missense_Mutation_p.V68I	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682													A	51825705	G	A	51825705	3	1	148	1	0	0	0	0	1	0	0	0	5425	1145	40	1	324	1	FAM124A	13	51825705	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		51825705	63344173	52	9941											
FOXA1	3169	broad.mit.edu	37	14	38061904	38061904	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr14:38061904C>T	uc001wuf.3	-	1	397	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	FOXA1_uc010tpz.2_5'UTR	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	29					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)		CTGACCGGGACGGAGGAGTAG	0.632													T	38061904	C	T	38061904	3	4	148	1	0	0	0	0	1	0	0	0	5989	536	19	1	1337	1	FOXA1	14	38061904	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		38061904	69287636	53	9942											
UNC13C	440279	broad.mit.edu	37	15	54556392	54556392	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:54556392G>A	uc021smr.1	+	6	3469	c.3469G>A	c.(3469-3471)Ggt>Agt	p.G1157S	UNC13C_uc021sms.1_Missense_Mutation_p.G1159S|UNC13C_uc002acl.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1159					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCTAAACATGGTGCCGAAGA	0.398													A	54556392	G	A	54556392	3	1	148	1	0	0	0	0	1	0	0	0	16983	1348	47	3	3501	3	UNC13C	15	54556392	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		54556392	47975000	54	9943											
FAM108C1	58489	broad.mit.edu	37	15	81041941	81041941	+	Silent	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:81041941C>T	uc002bfu.3	+	1	797	c.678C>T	c.(676-678)tgC>tgT	p.C226C	FAM108C1_uc002bft.3_Intron	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	Homo sapiens family with sequence similarity 108, member C1 (FAM108C1), mRNA.	226							hydrolase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGTATGAATGCGCAGCGGTAA	0.507													T	81041941	C	T	81041941	2	4	148	1	0	0	0	0	0	0	0	1	5393	776	27	1		1	FAM108C1	15	81041941	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	26485549	81041941	21489451	55	9944											
SLC28A1	9154	broad.mit.edu	37	15	85448820	85448820	+	Silent	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:85448820A>T	uc002blg.3	+	7	856	c.654A>T	c.(652-654)ggA>ggT	p.G218G	SLC28A1_uc010upd.1_Silent_p.G140G|SLC28A1_uc010bnb.3_Silent_p.G218G|SLC28A1_uc010upe.2_Silent_p.G218G|SLC28A1_uc010upf.1_Silent_p.G218G|SLC28A1_uc010upg.1_Silent_p.G218G	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	218					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGTACTTGGACTCCTCGTCA	0.567													T	85448820	A	T	85448820	2	4	148	1	0	0	0	0	0	0	0	1	14531	262	10	5		5	SLC28A1	15	85448820	Silent	SNP	A	TCGA-16-0846-01A-01W-0424-08	4406879	85448820	17082572	56	9945											
IL4R	3566	broad.mit.edu	37	16	27357926	27357926	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:27357926A>T	uc002don.3	+	5	742	c.500A>T	c.(499-501)aAc>aTc	p.N167I	IL4R_uc002dom.3_Missense_Mutation_p.N167I|IL4R_uc002dop.4_Missense_Mutation_p.N152I|IL4R_uc010bxy.3_Missense_Mutation_p.N167I|IL4R_uc002doo.3_Missense_Mutation_p.T9S	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	167	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGGAGTGAAAACGACCCGGCA	0.542													T	27357926	A	T	27357926	3	4	148	1	0	0	0	0	1	0	0	0	7698	43	2	5	514	5	IL4R	16	27357926	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08		27357926	62996827	57	9946											
ZNF319	57567	broad.mit.edu	37	16	58030933	58030933	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:58030933C>T	uc002emx.1	-	1	1860	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ZNF319_uc021tjd.1_Missense_Mutation_p.E413K	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGCAGCAGCTCGGCAGATTGG	0.647													T	58030933	C	T	58030933	3	4	148	1	0	0	0	0	1	0	0	0	17834	893	31	2	515	2	ZNF319	16	58030933	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	30673007	58030933	32323820	58	9947											
HYDIN	54768	broad.mit.edu	37	16	70917863	70917863	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:70917863G>A	uc002ezr.3	-	58	10087	c.9936C>T	c.(9934-9936)gcC>gcT	p.A3312A		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3313								p.A3312A(1)|p.A3264A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGAATGCCGGCAGGGTGGA	0.522													A	70917863	G	A	70917863	2	1	148	1	0	0	0	0	0	0	0	1	7467	1103	39	2		2	HYDIN	16	70917863	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	12886930	70917863	19436890	59	9948											
MYBBP1A	10514	broad.mit.edu	37	17	4449142	4449142	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:4449142G>C	uc002fxz.4	-	14	1983	c.1921_splice	c.e14+1	p.D641_splice	MYBBP1A_uc002fyb.4_Splice_Site_p.D641_splice|MYBBP1A_uc010vsa.2_5'Flank	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	641					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGACCCACCGATGGTCTTGG	0.652													C	4449142	G	C	4449142	3	2	148	1	0	0	0	0	1	0	0	0	10008	1072	37	5	2158	5	MYBBP1A	17	4449142	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		4449142	76746068	60	9949											
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:7578395G>A	uc002gim.2	-	4	729	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.3_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.2_Missense_Mutation_p.H140Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179Y(188)|p.H179R(106)|p.H179L(35)|p.H179N(30)|p.H179D(24)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H47Y(6)|p.H178fs*3(6)|p.H178P(6)|p.H86Y(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H179P(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179del(2)|p.H179H(2)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.H178_H179>QY(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.H178L(1)|p.E171fs*1(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H179fs*?(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642		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)			A	7578395	G	A	7578395	3	1	148	1	0	0	0	0	1	0	0	0	16378	1348	47	3	763	3	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	3129253	7578395	73616815	61	9950											
MYOCD	93649	broad.mit.edu	37	17	12656063	12656063	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:12656063G>A	uc002gno.2	+	9	1757	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	MYOCD_uc002gnn.2_Silent_p.P486P|MYOCD_uc002gnp.1_Silent_p.P390P|MYOCD_uc002gnq.2_Silent_p.P205P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	486	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTGCACCCGTCCCCAGTCC	0.632													A	12656063	G	A	12656063	2	1	148	1	0	0	0	0	0	0	0	1	10087	1132	40	1		1	MYOCD	17	12656063	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	5077668	12656063	68539147	62	9951											
LRRC30	339291	broad.mit.edu	37	18	7231554	7231554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:7231554C>T	uc010wzk.2	+	0	418	c.418C>T	c.(418-420)Cga>Tga	p.R140*		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	140										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAGCTTGTGCCGAAAGCTGGA	0.572													T	7231554	C	T	7231554	4	4	148	1	0	0	0	0	0	1	0	0	8985	644	23	2	420	2	LRRC30	18	7231554	Nonsense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		7231554	70845694	63	9952											
MIB1	57534	broad.mit.edu	37	18	19395686	19395686	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:19395686G>A	uc002ktq.3	+	10	1589	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	MIB1_uc002ktp.3_Missense_Mutation_p.R169Q	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	530					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AACAAGCGCCGACAGACACCA	0.438													A	19395686	G	A	19395686	3	1	148	1	0	0	0	0	1	0	0	0	9566	1058	37	2	1631	2	MIB1	18	19395686	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	12164132	19395686	58681562	64	9953											
SERPINB11	89778	broad.mit.edu	37	18	61377523	61377523	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:61377523G>A	uc002ljk.4	+	1	267	c.96G>A	c.(94-96)tcG>tcA	p.S32S	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Silent_p.S32S	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	32					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCTTTTCTTCGCTGAGTCTGC	0.433													A	61377523	G	A	61377523	2	1	148	1	0	0	0	0	0	0	0	1	14098	1074	38	1		1	SERPINB11	18	61377523	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	41981837	61377523	16699725	65	9954											
SALL3	27164	broad.mit.edu	37	18	76753193	76753193	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:76753193C>T	uc002lmt.3	+	1	1202	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	SALL3_uc010dra.3_Missense_Mutation_p.P8L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AAGGGCAAGCCGCCCAATGTG	0.662													T	76753193	C	T	76753193	3	4	148	1	0	0	0	0	1	0	0	0	13812	652	23	2	1208	2	SALL3	18	76753193	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	15375670	76753193	1324055	66	9955											
HCN2	610	broad.mit.edu	37	19	605149	605149	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:605149G>A	uc002lpe.3	+	2	1198	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	382					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CACTGGGACGGCTGCCTGCAG	0.617													A	605149	G	A	605149	3	1	148	1	0	0	0	0	1	0	0	0	6997	1203	42	3	1155	3	HCN2	19	605149	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		605149	58523834	67	9956											
REEP6	92840	broad.mit.edu	37	19	1496383	1496383	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:1496383G>T	uc002ltc.3	+	3	552	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S		NM_138393	NP_612402	Q96HR9	REEP6_HUMAN	Homo sapiens receptor accessory protein 6 (REEP6), mRNA.	150			A -> D (in dbSNP:rs2271412).			integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GCACCACGGGGCCGTAGACAG	0.657													T	1496383	G	T	1496383	3	4	148	1	0	0	0	0	1	0	0	0	13209	1203	42	5	462	5	REEP6	19	1496383	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	891234	1496383	57632600	68	9957											
ADAT3	113179	broad.mit.edu	37	19	1912807	1912807	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:1912807G>T	uc002luh.3	+	1	985	c.713G>T	c.(712-714)cGc>cTc	p.R238L	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.3_Intron|SCAMP4_uc002luk.3_Intron|SCAMP4_uc010dss.3_Intron|ADAT3_uc021umn.1_Missense_Mutation_p.R238L	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 3 (ADAT3), mRNA.	238					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|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)		GGCCAGGGCCGCGGCACCTAC	0.741													T	1912807	G	T	1912807	3	4	148	1	0	0	0	0	1	0	0	0	286	1087	38	5	715	5	ADAT3	19	1912807	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	416424	1912807	57216176	69	9958											
ILF3	3609	broad.mit.edu	37	19	10794068	10794068	+	Silent	SNP	A	A	G			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:10794068A>G	uc002mpn.3	+	14	2018	c.1701A>G	c.(1699-1701)caA>caG	p.Q567Q	ILF3_uc010xli.1_Silent_p.Q165Q|ILF3_uc002mpm.2_Silent_p.Q571Q|ILF3_uc002mpl.2_Silent_p.Q567Q|ILF3_uc002mpk.2_Silent_p.Q567Q|ILF3_uc002mpo.3_Silent_p.Q571Q|ILF3_uc002mpp.3_Silent_p.Q392Q|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	567	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAAGTTCCAAGGTGCTGGTT	0.572													G	10794068	A	G	10794068	2	3	148	1	0	0	0	0	0	0	0	1	7712	69	3	4		4	ILF3	19	10794068	Silent	SNP	A	TCGA-16-0846-01A-01W-0424-08	8881261	10794068	48334915	70	9959											
OR10H5	284433	broad.mit.edu	37	19	15905136	15905136	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:15905136C>T	uc010xos.2	+	0	278	c.278C>T	c.(277-279)gCc>gTc	p.A93V		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CGCTCCATCGCCTTCCTGGCC	0.607													T	15905136	C	T	15905136	3	4	148	1	0	0	0	0	1	0	0	0	10909	739	26	3	280	3	OR10H5	19	15905136	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	5111068	15905136	43223847	71	9960											
MYO9B	4650	broad.mit.edu	37	19	17312748	17312748	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:17312748G>A	uc010eak.3	+	26	4729	c.4577G>A	c.(4576-4578)cGt>cAt	p.R1526H	MYO9B_uc002nfi.3_Missense_Mutation_p.R1526H|MYO9B_uc002nfj.1_Missense_Mutation_p.R1526H|MYO9B_uc002nfl.1_Missense_Mutation_p.R75H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1526	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AATGACCTCCGTTCCCAGAAG	0.572													A	17312748	G	A	17312748	3	1	148	1	0	0	0	0	1	0	0	0	10085	1145	40	1	4679	1	MYO9B	19	17312748	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	1407612	17312748	41816235	72	9961											
PIK3R2	5296	broad.mit.edu	37	19	18280016	18280016	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:18280016C>T	uc002nia.1	+	15	2611	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	700	SH2 2.				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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CAGCACGCCTCGCTGGTGCAG	0.721													T	18280016	C	T	18280016	3	4	148	1	0	0	0	0	1	0	0	0	11919	893	31	2	2157	2	PIK3R2	19	18280016	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	967268	18280016	40848967	73	9962											
TSHZ3	57616	broad.mit.edu	37	19	31769684	31769685	+	Frame_Shift_Ins	INS	-	-	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:31769684_31769685insT	uc002nsy.4	-	1	1079_1080	c.1014_1015insA	c.(1012-1017)ggtggafs	p.G338fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	338					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			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)					TTGGGGGTTCCACCTGTGGAAT	0.564													T	31769685	-	T	31769684	7	5	148	1	0	1	1	0	0	0	0	0	16622	603	21	0	2234	0	TSHZ3	19	31769684	Frame_Shift_Ins	INS	-	TCGA-16-0846-01A-01W-0424-08	13489668	31769684	27359299	74	9963											
SLC7A10	56301	broad.mit.edu	37	19	33706697	33706697	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:33706697C>T	uc002num.2	-	1	481	c.334G>A	c.(334-336)Gag>Aag	p.E112K	SLC7A10_uc010xrq.2_Intron	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	112			E -> D (in a family with cystinuria).		blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCGAAGATCTCTGTGACGTAG	0.657													T	33706697	C	T	33706697	3	4	148	1	0	0	0	0	1	0	0	0	14693	922	32	3	1277	3	SLC7A10	19	33706697	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	1937013	33706697	25422286	75	9964											
FAM71E1	112703	broad.mit.edu	37	19	50979619	50979619	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:50979619G>A	uc002psh.3	-	0	385	c.27C>T	c.(25-27)ctC>ctT	p.L9L	FAM71E1_uc002psg.3_Silent_p.L9L|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	9										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCGGCTCCTGGAGATCAGGCC	0.682													A	50979619	G	A	50979619	2	1	148	1	0	0	0	0	0	0	0	1	5611	1161	41	3		3	FAM71E1	19	50979619	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	17272922	50979619	8149364	76	9965											
ZNF551	284309	broad.mit.edu	37	19	58265771	58265771	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:58265771G>T	uc002qpx.3	+	2	1496	c.1273G>T	c.(1273-1275)Gtt>Ttt	p.V425F	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Missense_Mutation_p.V425F	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACACCAGAGAGTTCACACTGG	0.428													T	58265771	G	T	58265771	3	4	148	1	0	0	0	0	1	0	0	0	17980	1029	36	5		5	ZNF551	19	58265771	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	7286152	58265771	863212	77	9966											
SEL1L2	80343	broad.mit.edu	37	20	13830942	13830942	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr20:13830942C>A	uc010gcf.3	-	18	1924	c.1842G>T	c.(1840-1842)ttG>ttT	p.L614F	SEL1L2_uc002woq.4_Missense_Mutation_p.L475F|SEL1L2_uc010zrl.2_Missense_Mutation_p.L501F|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	614						integral to membrane	binding	p.R613K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCATGTCGTACAATCTTCTGG	0.453													A	13830942	C	A	13830942	3	1	148	1	0	0	0	0	1	0	0	0	14011	477	17	5	232	5	SEL1L2	20	13830942	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		13830942	49194578	78	9967											
ZBP1	81030	broad.mit.edu	37	20	56190589	56190589	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr20:56190589G>A	uc002xyo.3	-	2	588	c.307C>T	c.(307-309)Cct>Tct	p.P103S	ZBP1_uc010gjm.3_Missense_Mutation_p.P103S|ZBP1_uc002xyp.3_Missense_Mutation_p.P28S|ZBP1_uc010zzn.2_Missense_Mutation_p.P103S	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	103						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTGAACTGAGGGCCAGGGGTC	0.592													A	56190589	G	A	56190589	3	1	148	1	0	0	0	0	1	0	0	0	17518	1232	43	3	1083	3	ZBP1	20	56190589	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	42359647	56190589	6834931	79	9968											
C1QTNF6	114904	broad.mit.edu	37	22	37578306	37578306	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:37578306G>A	uc003aqx.1	-	2	1022	c.759C>T	c.(757-759)cgC>cgT	p.R253R	C1QTNF6_uc003aqw.1_Silent_p.R234R|C1QTNF6_uc003aqy.1_Silent_p.R253R|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	234	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGGCGTTCTCGCGCTGGCGCT	0.652													A	37578306	G	A	37578306	2	1	148	1	0	0	0	0	0	0	0	1	1967	1074	38	1		1	C1QTNF6	22	37578306	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08		37578306	13726260	80	9969											
SH3BP1	23616	broad.mit.edu	37	22	38046222	38046222	+	Silent	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:38046222G>A	uc011anl.1	+	15	2216	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc003ath.1_Silent_p.A460A|SH3BP1_uc003ati.3_Silent_p.A460A|SH3BP1_uc003atj.1_Silent_p.A396A|SH3BP1_uc003atk.1_Silent_p.A374A|AK097791_uc003atl.1_Intron			Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	615					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	p.A460A(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TCGTCGAGGCGCTGATCCAGA	0.632													A	38046222	G	A	38046222	2	1	148	1	0	0	0	0	0	0	0	1	14244	1074	38	1		1	SH3BP1	22	38046222	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	467916	38046222	13258344	81	9970											
SMC1B	27127	broad.mit.edu	37	22	45754668	45754668	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:45754668G>A	uc003bgc.3	-	18	2922	c.2870C>T	c.(2869-2871)aCt>aTt	p.T957I	SMC1B_uc003bgd.3_Missense_Mutation_p.T957I	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	957					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCTGCTTCAGTTCCCATCTG	0.343													A	45754668	G	A	45754668	3	1	148	1	0	0	0	0	1	0	0	0	14782	1029	36	3	865	3	SMC1B	22	45754668	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	7708446	45754668	5549898	82	9971											
DMD	1756	broad.mit.edu	37	X	32429932	32429932	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:32429932G>C	uc004dda.1	-	29	4414	c.4170C>G	c.(4168-4170)gaC>gaG	p.D1390E	DMD_uc004dcw.2_Missense_Mutation_p.D46E|DMD_uc004dcx.2_Missense_Mutation_p.D49E|DMD_uc004dcz.2_Missense_Mutation_p.D1267E|DMD_uc004dcy.1_Missense_Mutation_p.D1386E|DMD_uc004ddb.1_Missense_Mutation_p.D1382E|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1390					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			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)				CCAACTGCTTGTCAATGAATG	0.473													C	32429932	G	C	32429932	3	2	148	1	0	0	0	0	1	0	0	0	4580	1368	48	5	7235	5	DMD	23	32429932	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		32429932	122840628	83	9972											
USP11	8237	broad.mit.edu	37	X	47104414	47104414	+	Splice_Site	SNP	G	G	C			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:47104414G>C	uc004dhp.3	+	16	2216	c.2216_splice	c.e16-1	p.A739_splice	USP11_uc004dhq.3_Splice_Site_p.A465_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	739					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567													C	47104414	G	C	47104414	5	2	148	1	0	0	0	0	0	0	1	0	17039	985	34	5	2277	5	USP11	23	47104414	Splice_Site	SNP	G	TCGA-16-0846-01A-01W-0424-08	14674482	47104414	108166146	84	9973											
PCDH11X	27328	broad.mit.edu	37	X	91133526	91133526	+	Missense_Mutation	SNP	T	T	A			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:91133526T>A	uc004efk.2	+	1	3132	c.2287T>A	c.(2287-2289)Ttc>Atc	p.F763I	PCDH11X_uc004efl.2_Missense_Mutation_p.F763I|PCDH11X_uc010nmv.2_Missense_Mutation_p.F763I|PCDH11X_uc004efm.2_Missense_Mutation_p.F763I|PCDH11X_uc004efn.2_Missense_Mutation_p.F763I|PCDH11X_uc004efo.2_Missense_Mutation_p.F763I|PCDH11X_uc004efh.2_Missense_Mutation_p.F763I|PCDH11X_uc004efj.1_Missense_Mutation_p.F763I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	763	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						TGATTCTCTCTTCAGTGTTGT	0.433													A	91133526	T	A	91133526	3	1	148	1	0	0	0	0	1	0	0	0	11508	1609	56	5	2293	5	PCDH11X	23	91133526	Missense_Mutation	SNP	T	TCGA-16-0846-01A-01W-0424-08	44029112	91133526	64137034	85	9974											
GABRE	2564	broad.mit.edu	37	X	151124002	151124002	+	Silent	SNP	G	G	T			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:151124002G>T	uc004ffi.3	-	7	1029	c.975C>A	c.(973-975)acC>acA	p.T325T	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	325					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACGAGAAAAGGTGCCCAACG	0.493													T	151124002	G	T	151124002	2	4	148	1	0	0	0	0	0	0	0	1	6170	987	35	5		5	GABRE	23	151124002	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	59990476	151124002	4146558	86	9975											
DNAJC6	9829	broad.mit.edu	37	1	65845142	65845142	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:65845142G>A	uc001dce.1	+	4	802	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	DNAJC6_uc001dcc.1_Missense_Mutation_p.V175M|DNAJC6_uc001dcd.1_Missense_Mutation_p.V144M|DNAJC6_uc010opc.1_Missense_Mutation_p.V131M	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	144	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCTTTTTGCTGTGTGTCGGAA	0.458													A	65845142	G	A	65845142	3	1	149	1	0	0	0	0	1	0	0	0	4653	1377	48	3	448	3	DNAJC6	1	65845142	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		65845142	183405479	1	9976											
VAV3	10451	broad.mit.edu	37	1	108417540	108417540	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:108417540C>A	uc001dvk.1	-	1	358	c.304G>T	c.(304-306)Gtt>Ttt	p.V102F	VAV3_uc010ouw.1_Missense_Mutation_p.V102F|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.V102F	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	102	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGTCACGAACATCAAACAAG	0.358													A	108417540	C	A	108417540	3	1	149	1	0	0	0	0	1	0	0	0	17130	478	17	5	2368	5	VAV3	1	108417540	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	42572398	108417540	140833081	2	9977											
FLG	2312	broad.mit.edu	37	1	152284952	152284952	+	Nonsense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:152284952C>A	uc001ezu.1	-	2	2446	c.2410G>T	c.(2410-2412)Gag>Tag	p.E804*	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	804	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TGGGAGGACTCAGACTGTTTA	0.572									Ichthyosis				A	152284952	C	A	152284952	4	1	149	1	0	0	0	0	0	1	0	0	5922	835	29	5	9779	5	FLG	1	152284952	Nonsense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	43867412	152284952	96965669	3	9978											
CD1E	913	broad.mit.edu	37	1	158323687	158323687	+	Translation_Start_Site	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:158323687C>T	uc001fse.3	+	0					CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_5'UTR|CD1E_uc001fsh.3_5'UTR|CD1E_uc001fry.3_5'UTR|CD1E_uc001fsf.3_5'UTR|CD1E_uc001fsg.3_5'UTR|CD1E_uc009wsv.3_5'UTR|CD1E_uc001fsj.3_5'UTR|CD1E_uc001fsk.3_5'UTR|CD1E_uc001fsa.3_5'UTR|CD1E_uc001fsd.3_5'UTR|CD1E_uc001frz.3_5'UTR|CD1E_uc010pig.2_5'UTR|CD1E_uc001fsc.3_5'UTR|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.						antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGAAGTCAGACGAGAGTGCAA	0.542													T	158323687	C	T	158323687	1	4	149	1	0	0	0	0	0	0	0	0	2978	551	19	1		1	CD1E	1	158323687	Translation_Start_Site	SNP	C	TCGA-16-0861-01A-01W-0424-08	6038735	158323687	90926934	4	9979											
EHD3	30845	broad.mit.edu	37	2	31467312	31467312	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:31467312A>T	uc002rnu.3	+	1	1008	c.400A>T	c.(400-402)Aac>Tac	p.N134Y	EHD3_uc010ymt.2_Missense_Mutation_p.N134Y	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	134					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			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGCCTTCTTGAACAGGTGAGT	0.537													T	31467312	A	T	31467312	3	4	149	1	0	0	0	0	1	0	0	0	4979	246	9	5	406	5	EHD3	2	31467312	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08		31467312	211732061	5	9980											
BIRC6	57448	broad.mit.edu	37	2	32774411	32774411	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:32774411G>A	uc010ezu.3	+	64	13141	c.13007G>A	c.(13006-13008)aGt>aAt	p.S4336N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4336					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCGTCAGTAGTGCGGTAAAT	0.398													A	32774411	G	A	32774411	3	1	149	1	0	0	0	0	1	0	0	0	1438	1029	36	3	13265	3	BIRC6	2	32774411	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	1307099	32774411	210424962	6	9981											
TUBA3D	113457	broad.mit.edu	37	2	132237806	132237806	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:132237806C>T	uc002tsu.4	+	3	733	c.540C>T	c.(538-540)gcC>gcT	p.A180A		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	180					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTCCACAGCCGTGGTGGAGC	0.547													T	132237806	C	T	132237806	2	4	149	1	0	0	0	0	0	0	0	1	16744	639	23	2		2	TUBA3D	2	132237806	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	99463395	132237806	110961567	7	9982											
PDE11A	50940	broad.mit.edu	37	2	178969184	178969184	+	Missense_Mutation	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:178969184T>C	uc002ulr.3	-	1	106	c.7A>G	c.(7-9)Aag>Gag	p.K3E	PDE11A_uc002ult.1_Missense_Mutation_p.K3E	NM_001077197	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 3, mRNA.	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTTGCCTGCTTCAGCATCTCC	0.408									Primary Pigmented Nodular Adrenocortical Disease, Familial				C	178969184	T	C	178969184	3	2	149	1	0	0	0	0	1	0	0	0	11631	1792	62	4	3040	4	PDE11A	2	178969184	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	46731378	178969184	64230189	8	9983											
TTN	7273	broad.mit.edu	37	2	179442852	179442852	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:179442852G>A	uc021vsy.1	-	270	60911	c.60686C>T	c.(60685-60687)cCg>cTg	p.P20229L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13924L|TTN_uc021vta.1_Missense_Mutation_p.P13857L|TTN_uc021vtb.1_Missense_Mutation_p.P13732L|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21156	Ig-like 111.						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)			CATCCTTATCGGAGTCTTGTT	0.418													A	179442852	G	A	179442852	3	1	149	1	0	0	0	0	1	0	0	0	16732	1116	39	2	39753	2	TTN	2	179442852	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	473668	179442852	63756521	9	9984											
PTPRN	5798	broad.mit.edu	37	2	220159756	220159756	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:220159756G>A	uc002vkz.3	-	18	2857	c.2616C>T	c.(2614-2616)ttC>ttT	p.F872F	PTPRN_uc010zlc.2_Silent_p.F782F|PTPRN_uc002vla.3_Silent_p.F843F|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	872	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCAGCTGAGGAAGTGGAACT	0.687													A	220159756	G	A	220159756	2	1	149	1	0	0	0	0	0	0	0	1	12807	1165	41	3		3	PTPRN	2	220159756	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08	40716904	220159756	23039617	10	9985											
DLEC1	9940	broad.mit.edu	37	3	38139020	38139020	+	Silent	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:38139020T>C	uc003chp.1	+	16	2478	c.2457T>C	c.(2455-2457)ttT>ttC	p.F819F	DLEC1_uc003cho.1_Silent_p.F819F|DLEC1_uc010hgv.1_Silent_p.F819F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.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.	819					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)		TCGGGGATTTTGAGTTGAACT	0.562													C	38139020	T	C	38139020	2	2	149	1	0	0	0	0	0	0	0	1	4552	1809	63	4		4	DLEC1	3	38139020	Silent	SNP	T	TCGA-16-0861-01A-01W-0424-08		38139020	159883410	11	9986											
ATP6V1A	523	broad.mit.edu	37	3	113503555	113503555	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:113503555A>G	uc003eao.3	+	4	547	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	ATP6V1A_uc011bik.2_Missense_Mutation_p.I114V	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	147					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			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						TGGTAGTCATATCACTGGCGG	0.373													G	113503555	A	G	113503555	3	3	149	1	0	0	0	0	1	0	0	0	1177	449	16	4	453	4	ATP6V1A	3	113503555	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	75364535	113503555	84518875	12	9987											
FRYL	285527	broad.mit.edu	37	4	48575256	48575256	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:48575256G>C	uc003gyh.1	-	25	3456	c.2851C>G	c.(2851-2853)Cta>Gta	p.L951V	FRYL_uc003gyk.3_Missense_Mutation_p.L951V	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCCTCTATTAGTTCCCTGGAA	0.348													C	48575256	G	C	48575256	3	2	149	1	0	0	0	0	1	0	0	0	6064	1020	36	5	6346	5	FRYL	4	48575256	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		48575256	142579020	13	9988											
PITX2	5308	broad.mit.edu	37	4	111539315	111539315	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:111539315C>T	uc003iaf.3	-	6	2743	c.920G>A	c.(919-921)aGt>aAt	p.S307N	PITX2_uc003iac.3_Missense_Mutation_p.S314N|PITX2_uc003iad.3_Missense_Mutation_p.S307N|PITX2_uc021xqr.1_Missense_Mutation_p.S307N|PITX2_uc003iae.3_Missense_Mutation_p.S261N|PITX2_uc021xqs.1_Missense_Mutation_p.S261N	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	307					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTGGCAAGCACTCAGGTTGGA	0.632													T	111539315	C	T	111539315	3	4	149	1	0	0	0	0	1	0	0	0	11955	565	20	3	37	3	PITX2	4	111539315	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	62964059	111539315	79614961	14	9989											
FGA	2243	broad.mit.edu	37	4	155508007	155508007	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:155508007C>T	uc003iod.1	-	4	632	c.574G>A	c.(574-576)Gta>Ata	p.V192I	FGA_uc003ioe.1_Missense_Mutation_p.V192I|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	192					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCAGATCTACTTCACGAGCT	0.418													T	155508007	C	T	155508007	3	4	149	1	0	0	0	0	1	0	0	0	5830	565	20	3	2078	3	FGA	4	155508007	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	43968692	155508007	35646269	15	9990											
DNAH5	1767	broad.mit.edu	37	5	13829731	13829731	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:13829731C>T	uc003jfd.2	-	37	6374	c.6332G>A	c.(6331-6333)cGt>cAt	p.R2111H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2111	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					GATAATCTGACGGTCAGGCAC	0.463									Kartagener syndrome				T	13829731	C	T	13829731	3	4	149	1	0	0	0	0	1	0	0	0	4604	536	19	1	7710	1	DNAH5	5	13829731	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		13829731	167085529	16	9991											
CMYA5	202333	broad.mit.edu	37	5	79030268	79030268	+	Missense_Mutation	SNP	T	T	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:79030268T>G	uc003kgc.3	+	1	5752	c.5680T>G	c.(5680-5682)Tgg>Ggg	p.W1894G		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1894						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGATGAAAACTGGATGTTGGG	0.423													G	79030268	T	G	79030268	3	3	149	1	0	0	0	0	1	0	0	0	3590	1580	55	5	5686	5	CMYA5	5	79030268	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	65200537	79030268	101884992	17	9992											
ZNF608	57507	broad.mit.edu	37	5	123983427	123983427	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:123983427C>T	uc003ktq.1	-	3	2833	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D884N|ZNF608_uc003ktt.1_Missense_Mutation_p.D884N	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	884						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TAAACCTTATCGGCCTCAGCT	0.532													T	123983427	C	T	123983427	3	4	149	1	0	0	0	0	1	0	0	0	18031	884	31	2	1912	2	ZNF608	5	123983427	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	44953159	123983427	56931833	18	9993											
PCDHB15	56121	broad.mit.edu	37	5	140625602	140625602	+	Missense_Mutation	SNP	T	T	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:140625602T>G	uc003lje.3	+	0	456	c.456T>G	c.(454-456)ttT>ttG	p.F152L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	152	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACTGTGTTTCCTCTGAAAA	0.438													G	140625602	T	G	140625602	3	3	149	1	0	0	0	0	1	0	0	0	11540	1780	62	5	458	5	PCDHB15	5	140625602	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	16642175	140625602	40289658	19	9994											
ARHGEF37	389337	broad.mit.edu	37	5	148997790	148997790	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:148997790G>A	uc003lra.1	+	5	774	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	237					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CGGCTGGCCCGCATCAACACA	0.632													A	148997790	G	A	148997790	3	1	149	1	0	0	0	0	1	0	0	0	906	1087	38	1	728	1	ARHGEF37	5	148997790	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	8372188	148997790	31917470	20	9995											
CLINT1	9685	broad.mit.edu	37	5	157232966	157232966	+	Missense_Mutation	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:157232966T>C	uc003lxj.2	-	6	1055	c.850A>G	c.(850-852)Acc>Gcc	p.T284A	CLINT1_uc003lxi.2_Missense_Mutation_p.T266A|CLINT1_uc011ddv.2_Missense_Mutation_p.T284A	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.	284					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGATCAATGGTTTTGGAAGGA	0.473													C	157232966	T	C	157232966	3	2	149	1	0	0	0	0	1	0	0	0	3531	1725	60	4	1051	4	CLINT1	5	157232966	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	8235176	157232966	23682294	21	9996											
N4BP3	23138	broad.mit.edu	37	5	177548865	177548865	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:177548865G>A	uc003mik.1	+	4	1745	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	N4BP3_uc003mil.1_Missense_Mutation_p.V169M	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	500						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GAAGGAGCGCGTGCTGCGCTA	0.687													A	177548865	G	A	177548865	3	1	149	1	0	0	0	0	1	0	0	0	10113	1145	40	1	1512	1	N4BP3	5	177548865	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	20315899	177548865	3366395	22	9997											
RASGEF1C	255426	broad.mit.edu	37	5	179555514	179555514	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:179555514G>T	uc003mlq.3	-	3	832	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	RASGEF1C_uc003mlr.3_Missense_Mutation_p.P179T|RASGEF1C_uc003mlp.4_Missense_Mutation_p.P28T	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	179					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGAGATGGGCTTGTCGGCA	0.637													T	179555514	G	T	179555514	3	4	149	1	0	0	0	0	1	0	0	0	13071	1203	42	5	905	5	RASGEF1C	5	179555514	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	2006649	179555514	1359746	23	9998											
DST	667	broad.mit.edu	37	6	56342227	56342227	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr6:56342227G>A	uc003pcy.4	-	71	13830	c.13722C>T	c.(13720-13722)ggC>ggT	p.G4574G		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6986					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			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)			AAACGGTGTCGCCCATAGTGG	0.458													A	56342227	G	A	56342227	2	1	149	1	0	0	0	0	0	0	0	1	4783	1074	38	1		1	DST	6	56342227	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08		56342227	114772840	24	9999											
ME1	4199	broad.mit.edu	37	6	84056002	84056002	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr6:84056002A>T	uc003pjy.3	-	4	755	c.490T>A	c.(490-492)Tgt>Agt	p.C164S	ME1_uc011dzb.2_Missense_Mutation_p.C89S|ME1_uc011dzc.2_5'UTR	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	164					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ATTCCATTACAGCCAAGGTCT	0.448													T	84056002	A	T	84056002	3	4	149	1	0	0	0	0	1	0	0	0	9417	188	7	5	1268	5	ME1	6	84056002	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	27713775	84056002	87059065	25	10000											
SAMD9	54809	broad.mit.edu	37	7	92732691	92732691	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:92732691C>A	uc003umf.3	-	2	2990	c.2720G>T	c.(2719-2721)gGg>gTg	p.G907V	SAMD9_uc003umg.3_Missense_Mutation_p.G907V|SAMD9_uc022ahg.1_Missense_Mutation_p.G907V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	907						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATATTCTGCCCTTTCAGGAT	0.333													A	92732691	C	A	92732691	3	1	149	1	0	0	0	0	1	0	0	0	13826	623	22	5	2053	5	SAMD9	7	92732691	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		92732691	66405972	26	10001											
AZGP1	563	broad.mit.edu	37	7	99569575	99569575	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:99569575A>T	uc003ush.3	-	1	223	c.131T>A	c.(130-132)gTc>gAc	p.V44D		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	44					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAACGCGGGGACGTCTTCAAC	0.502													T	99569575	A	T	99569575	3	4	149	1	0	0	0	0	1	0	0	0	1239	275	10	5	777	5	AZGP1	7	99569575	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	6836884	99569575	59569088	27	10002											
IQUB	154865	broad.mit.edu	37	7	123152166	123152166	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:123152166G>T	uc003vkn.3	-	1	806	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	IQUB_uc003vko.3_Missense_Mutation_p.Q77K|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.Q77K|IQUB_uc003vkq.2_Missense_Mutation_p.Q77K	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	77										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCCATGAGTTGTTCATTGTCT	0.413													T	123152166	G	T	123152166	3	4	149	1	0	0	0	0	1	0	0	0	7820	1386	48	5	2194	5	IQUB	7	123152166	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	23582591	123152166	35986497	28	10003											
FAM71F1	84691	broad.mit.edu	37	7	128370003	128370003	+	Missense_Mutation	SNP	C	C	T	rs140953386	byFrequency	TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:128370003C>T	uc003vno.1	+	5	954	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	301										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGTGACCTACGTTGGAGGGC	0.547													T	128370003	C	T	128370003	3	4	149	1	0	0	0	0	1	0	0	0	5612	536	19	1	923	1	FAM71F1	7	128370003	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	5217837	128370003	30768660	29	10004											
HIPK2	28996	broad.mit.edu	37	7	139416741	139416741	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:139416741C>T	uc003vvf.4	-	1	364	c.93G>A	c.(91-93)ctG>ctA	p.L31L	HIPK2_uc003vvd.4_Silent_p.L31L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	31					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCTCTATTTTCAGTTTCTTCA	0.493													T	139416741	C	T	139416741	2	4	149	1	0	0	0	0	0	0	0	1	7117	813	29	3		3	HIPK2	7	139416741	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	11046738	139416741	19721922	30	10005											
CNTNAP2	26047	broad.mit.edu	37	7	146829418	146829418	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:146829418C>T	uc003weu.2	+	7	1681	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	389					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R389Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTGCCCGGACGGCTTAACCA	0.468										HNSCC(39;0.1)			T	146829418	C	T	146829418	3	4	149	1	0	0	0	0	1	0	0	0	3647	527	19	1	1195	1	CNTNAP2	7	146829418	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	7412677	146829418	12309245	31	10006											
IARS	3376	broad.mit.edu	37	9	95007245	95007246	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:95007245_95007246GC>AA	uc004art.1	-	26	3156_3157	c.2899_2900GC>TT	c.(2899-2901)gct>TTt	p.A967F	IARS_uc004ars.1_Missense_Mutation_p.A812F|IARS_uc004aru.3_Missense_Mutation_p.A967F|IARS_uc010mqr.2_Missense_Mutation_p.A857F|IARS_uc010mqt.2_Missense_Mutation_p.A190F	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	967					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAATACCTGAGCATCTGAGTGT	0.446													AA	95007246	GC	AA	95007245	3	1	149	1	0	0	0	0	1	0	0	0	7473	971	34	3	920	3	IARS	9	95007245	Missense_Mutation	DNP	GC	TCGA-16-0861-01A-01W-0424-08		95007245	46206186	32	10007											
LPAR1	1902	broad.mit.edu	37	9	113703772	113703772	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:113703772C>T	uc011lwo.2	-	1	727	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	LPAR1_uc004bfa.3_Missense_Mutation_p.R241Q|LPAR1_uc011lwm.2_Missense_Mutation_p.R242Q|LPAR1_uc004bfc.3_Missense_Mutation_p.R241Q|LPAR1_uc011lwn.2_Missense_Mutation_p.R223Q|LPAR1_uc004bfb.3_Missense_Mutation_p.R241Q|LPAR1_uc010mub.3_Missense_Mutation_p.R241Q	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	241					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGAACTATGCCGAGACATTCT	0.468													T	113703772	C	T	113703772	3	4	149	1	0	0	0	0	1	0	0	0	8904	652	23	2	380	2	LPAR1	9	113703772	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	18696527	113703772	27509659	33	10008											
SUSD1	64420	broad.mit.edu	37	9	114860875	114860875	+	Missense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:114860875G>T	uc010mui.3	-	9	1390	c.1349C>A	c.(1348-1350)aCg>aAg	p.T450K	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.T450K|SUSD1_uc010muj.3_Missense_Mutation_p.T450K			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	450						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGTTCCCTCGTTGTGAAGTT	0.443													T	114860875	G	T	114860875	3	4	149	1	0	0	0	0	1	0	0	0	15404	1145	40	5	926	5	SUSD1	9	114860875	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	1157103	114860875	26352556	34	10009											
PTEN	5728	broad.mit.edu	37	10	89685315	89685318	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:89685315_89685318delGTAA	uc001kfb.3	+	3	1241	c.209_splice	c.e3+1	p.L70_splice	PTEN_uc021pvw.1_Intron	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	70	Phosphatase tensin-type.		L -> P (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(17)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATACAATCTGTAAGTATGTTTTC	0.275		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89685318	GTAA	-	89685315	8	5	149	1	0	1	0	1	0	0	1	0	12738	1391	48	0	220	0	PTEN	10	89685315	Splice_Site	DEL	GTAA	TCGA-16-0861-01A-01W-0424-08		89685315	45849432	35	10010											
BTRC	8945	broad.mit.edu	37	10	103281492	103281492	+	Missense_Mutation	SNP	T	T	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:103281492T>G	uc001kta.3	+	4	534	c.421T>G	c.(421-423)Ttt>Gtt	p.F141V	BTRC_uc001ktb.3_Missense_Mutation_p.F105V|BTRC_uc001ktc.3_Missense_Mutation_p.F115V	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	141	Homodimerization domain D.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGTCAAATACTTTGAGCAGTG	0.413													G	103281492	T	G	103281492	3	3	149	1	0	0	0	0	1	0	0	0	1569	1609	56	5	439	5	BTRC	10	103281492	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	13596177	103281492	32253255	36	10011											
PITX3	5309	broad.mit.edu	37	10	103990780	103990780	+	Missense_Mutation	SNP	C	C	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:103990780C>A	uc001kuu.1	-	3	554	c.400G>T	c.(400-402)Gcg>Tcg	p.A134S		NM_005029	NP_005020	O75364	PITX3_HUMAN	Homo sapiens paired-like homeodomain 3 (PITX3), mRNA.	134					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCGGCGCCGCGAAGCTGCCT	0.711													A	103990780	C	A	103990780	3	1	149	1	0	0	0	0	1	0	0	0	11956	768	27	5	512	5	PITX3	10	103990780	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	709288	103990780	31543967	37	10012											
C11orf30	56946	broad.mit.edu	37	11	76164415	76164415	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr11:76164415A>C	uc001oxl.3	+	3	371	c.228A>C	c.(226-228)ttA>ttC	p.L76F	C11orf30_uc001oxj.3_Missense_Mutation_p.L76F|C11orf30_uc001oxk.3_Missense_Mutation_p.L76F|C11orf30_uc009yuj.1_Missense_Mutation_p.L76F|C11orf30_uc010rsa.1_Missense_Mutation_p.L76F|C11orf30_uc001oxm.3_Missense_Mutation_p.L76F|C11orf30_uc010rsb.2_Missense_Mutation_p.L76F|C11orf30_uc010rsc.2_Missense_Mutation_p.L76F|C11orf30_uc001oxn.3_Missense_Mutation_p.L76F|C11orf30_uc010rsd.2_Missense_Mutation_p.L76F	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	76	ENT.|Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATGAACGGTTAACAACAATTG	0.403													C	76164415	A	C	76164415	3	2	149	1	0	0	0	0	1	0	0	0	1636	359	13	5	238	5	C11orf30	11	76164415	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08		76164415	58842101	38	10013											
ELMOD1	55531	broad.mit.edu	37	11	107518220	107518220	+	Silent	SNP	T	T	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr11:107518220T>A	uc010rvs.2	+	6	851	c.447T>A	c.(445-447)acT>acA	p.T149T	ELMOD1_uc001pjm.3_Silent_p.T149T|ELMOD1_uc010rvt.2_Silent_p.T143T	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	149	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGCCCAATACTCCACTGGAAT	0.383													A	107518220	T	A	107518220	2	1	149	1	0	0	0	0	0	0	0	1	5068	1538	54	5		5	ELMOD1	11	107518220	Silent	SNP	T	TCGA-16-0861-01A-01W-0424-08	31353805	107518220	27488296	39	10014											
WNK1	65125	broad.mit.edu	37	12	998382	998382	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:998382C>T	uc021qss.1	+	20	6864	c.6221C>T	c.(6220-6222)gCg>gTg	p.A2074V	WNK1_uc001qio.4_Missense_Mutation_p.A1814V|WNK1_uc021qst.1_Missense_Mutation_p.A2066V|WNK1_uc001qip.4_Missense_Mutation_p.A1567V|WNK1_uc001qir.4_Missense_Mutation_p.A987V	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1814					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGACTTCTGCGGTTGGTGTA	0.368													T	998382	C	T	998382	3	4	149	1	0	0	0	0	1	0	0	0	17374	768	27	1	7025	1	WNK1	12	998382	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		998382	132853513	40	10015											
RERG	85004	broad.mit.edu	37	12	15262109	15262109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:15262109G>A	uc001rcs.3	-	3	675	c.535C>T	c.(535-537)Cga>Tga	p.R179*	RERG_uc001rct.3_Nonsense_Mutation_p.R179*|RERG_uc010shu.2_Nonsense_Mutation_p.R160*	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	179					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	p.R179*(2)|p.R178R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCTGCGTCGCCTCGTCTTG	0.532													A	15262109	G	A	15262109	4	1	149	1	0	0	0	0	0	1	0	0	13232	1095	38	1	68	1	RERG	12	15262109	Nonsense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	14263727	15262109	118589786	41	10016											
AVPR1A	552	broad.mit.edu	37	12	63543857	63543857	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:63543857G>A	uc001sro.1	-	0	2734	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	254					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.R254C(2)|p.S253*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTGCTCTGGCGCGACGCCGTC	0.617													A	63543857	G	A	63543857	3	1	149	1	0	0	0	0	1	0	0	0	1231	1087	38	1	504	1	AVPR1A	12	63543857	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	48281748	63543857	70308038	42	10017											
SYT1	6857	broad.mit.edu	37	12	79693293	79693293	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:79693293G>T	uc001sys.3	+	8	1443	c.772G>T	c.(772-774)Gag>Tag	p.E258*	SYT1_uc001syt.3_Nonsense_Mutation_p.E258*|SYT1_uc001syu.3_Nonsense_Mutation_p.E255*|SYT1_uc001syv.3_Nonsense_Mutation_p.E258*	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	258	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCATGTAACTGAGGAATGGCG	0.418													T	79693293	G	T	79693293	4	4	149	1	0	0	0	0	0	1	0	0	15462	1291	45	5	790	5	SYT1	12	79693293	Nonsense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	16149436	79693293	54158602	43	10018											
KSR2	283455	broad.mit.edu	37	12	118198971	118198971	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:118198971C>T	uc001two.2	-	3	799	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	277	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P248P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCATGGGCGGCGTGCCCG	0.701													T	118198971	C	T	118198971	2	4	149	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	118198971	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	38505678	118198971	15652924	44	10019											
ZNF268	10795	broad.mit.edu	37	12	133780200	133780200	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:133780200A>G	uc010tch.2	+	5	2134	c.1928A>G	c.(1927-1929)aAt>aGt	p.N643S	ZNF268_uc010tbv.1_Missense_Mutation_p.N482S|ZNF268_uc010tbz.1_Missense_Mutation_p.N482S|ZNF268_uc010tcc.1_Missense_Mutation_p.N482S|ZNF268_uc010tcd.1_Missense_Mutation_p.N482S|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Missense_Mutation_p.N643S|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Missense_Mutation_p.N560S	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	643						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TATAGTTGTAATGAATGTGGA	0.383													G	133780200	A	G	133780200	3	3	149	1	0	0	0	0	1	0	0	0	17804	101	4	4		4	ZNF268	12	133780200	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	15581229	133780200	71695	45	10020											
MTUS2	23281	broad.mit.edu	37	13	29675102	29675102	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:29675102C>T	uc001usl.4	+	2	2727	c.2669C>T	c.(2668-2670)gCc>gTc	p.A890V		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	880	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCCGGCCAGCCACCCGTAAG	0.582													T	29675102	C	T	29675102	3	4	149	1	0	0	0	0	1	0	0	0	9966	739	26	3	2679	3	MTUS2	13	29675102	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		29675102	85494776	46	10021											
PDS5B	23047	broad.mit.edu	37	13	33327545	33327545	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:33327545G>C	uc010abf.3	+	24	2998	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	938					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCTTCCACTTGAGTATATGGC	0.413													C	33327545	G	C	33327545	3	2	149	1	0	0	0	0	1	0	0	0	11692	1291	45	5	2906	5	PDS5B	13	33327545	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	3652443	33327545	81842333	47	10022											
GPR180	160897	broad.mit.edu	37	13	95275364	95275364	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:95275364G>C	uc001vly.3	+	7	973	c.895_splice	c.e7-1	p.S299_splice	GPR180_uc001vlz.3_Splice_Site_p.S198_splice|GPR180_uc010afi.3_Splice_Site_p.S60_splice	NM_180989	NP_851320	Q86V85	GP180_HUMAN	Homo sapiens G protein-coupled receptor 180 (GPR180), mRNA.	299						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CTTTTGCAGAGTGTTTTGCTA	0.299													C	95275364	G	C	95275364	3	2	149	1	0	0	0	0	1	0	0	0	6676	1043	36	5	922	5	GPR180	13	95275364	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	61947819	95275364	19894514	48	10023											
GZMB	3002	broad.mit.edu	37	14	25101153	25101153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:25101153G>A	uc001wps.2	-	3	577	c.511C>T	c.(511-513)Cga>Tga	p.R171*	GZMB_uc010ama.2_Nonsense_Mutation_p.R159*|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	171	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	p.R171*(2)|p.R205*(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCGCACTTTCGATCTTCCTGC	0.517													A	25101153	G	A	25101153	4	1	149	1	0	0	0	0	0	1	0	0	6916	1066	37	2	240	2	GZMB	14	25101153	Nonsense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		25101153	82248387	49	10024											
HEATR5A	25938	broad.mit.edu	37	14	31852819	31852835	+	Frame_Shift_Del	DEL	GTGAAGACTTATGTCCA	GTGAAGACTTATGTCCA	-			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:31852819_31852835delGTGAAGACTTATGTCCA	uc001wrf.4	-	9	1673_1689	c.1488_1504delTGGACATAAGTCTTCAC	c.(1486-1506)actggacataagtcttcacctfs	p.T496fs	HEATR5A_uc010ami.3_Frame_Shift_Del_p.T101fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.T85fs|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.T496fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	490							binding	p.G491>?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTGCTTCAGGTGAAGACTTATGTCCAGTAAGCCGTT	0.461													-	31852835	GTGAAGACTTATGTCCA	-	31852819	7	5	149	1	0	1	0	1	0	0	0	0	7031	1261	44	0	4744	0	HEATR5A	14	31852819	Frame_Shift_Del	DEL	GTGAAGACTTATGTCCA	TCGA-16-0861-01A-01W-0424-08	6751666	31852819	75496721	50	10025											
NIN	51199	broad.mit.edu	37	14	51239167	51239167	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:51239167C>T	uc001wyi.3	-	8	1024	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R278Q|NIN_uc001wyk.3_Missense_Mutation_p.R278Q|NIN_uc001wyo.3_Missense_Mutation_p.R278Q|NIN_uc001wyp.1_Missense_Mutation_p.R240Q	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	278					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTGGTACGTCGTCCACTCTC	0.498			T	PDGFRB	MPD								T	51239167	C	T	51239167	3	4	149	1	0	0	0	0	1	0	0	0	10417	884	31	2	5808	2	NIN	14	51239167	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	19386348	51239167	56110373	51	10026											
SMEK1	55671	broad.mit.edu	37	14	91948148	91948148	+	Silent	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:91948148A>G	uc001xzn.3	-	3	1509	c.687T>C	c.(685-687)gcT>gcC	p.A229A	SMEK1_uc001xzm.3_Silent_p.A229A|SMEK1_uc001xzo.3_Silent_p.A229A|SMEK1_uc010atz.3_Intron|SMEK1_uc001xzp.1_Non-coding_Transcript|SMEK1_uc001xzq.1_Silent_p.A105A	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	229						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTTGTGATAAAGCAGGATCAT	0.353													G	91948148	A	G	91948148	2	3	149	1	0	0	0	0	0	0	0	1	14793	59	3	4		4	SMEK1	14	91948148	Silent	SNP	A	TCGA-16-0861-01A-01W-0424-08	40708981	91948148	15401392	52	10027											
C15orf2	23742	broad.mit.edu	37	15	24921847	24921847	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:24921847C>T	uc001ywo.3	+	0	1307	c.833C>T	c.(832-834)gCg>gTg	p.A278V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	278					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AAGTTGGCTGCGGAAGTGCTG	0.602													T	24921847	C	T	24921847	3	4	149	1	0	0	0	0	1	0	0	0	1784	768	27	1	835	1	C15orf2	15	24921847	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		24921847	77609545	53	10028											
MAPKBP1	23005	broad.mit.edu	37	15	42109162	42109162	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:42109162C>T	uc001zok.4	+	14	1944	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	MAPKBP1_uc010bci.3_Missense_Mutation_p.A547V|MAPKBP1_uc010udb.2_Missense_Mutation_p.A386V|MAPKBP1_uc001zoj.4_Missense_Mutation_p.A547V|MAPKBP1_uc010bcj.3_Missense_Mutation_p.A54V|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.A54V	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	553										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTGCTGGATGCCGGGCGGGAG	0.582													T	42109162	C	T	42109162	3	4	149	1	0	0	0	0	1	0	0	0	9292	739	26	3	1712	3	MAPKBP1	15	42109162	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	17187315	42109162	60422230	54	10029											
TLN2	83660	broad.mit.edu	37	15	63127965	63127965	+	Silent	SNP	C	C	T	rs139730009		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:63127965C>T	uc002alb.4	+	52	7158	c.7158C>T	c.(7156-7158)gaC>gaT	p.D2386D	TLN2_uc002alc.4_Silent_p.D779D|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2386	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.D2386D(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATGCTGCAGACGACGGACAGT	0.597													T	63127965	C	T	63127965	2	4	149	1	0	0	0	0	0	0	0	1	15945	535	19	1		1	TLN2	15	63127965	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	21018803	63127965	39403427	55	10030											
SV2B	9899	broad.mit.edu	37	15	91811770	91811770	+	Silent	SNP	C	C	T	rs140230861		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:91811770C>T	uc002bqv.3	+	9	2199	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	SV2B_uc002bqt.3_Silent_p.Y436Y|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.Y285Y	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	436					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			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)			AGCATGTGTACGGCGCCACAA	0.418													T	91811770	C	T	91811770	2	4	149	1	0	0	0	0	0	0	0	1	15415	547	19	1		1	SV2B	15	91811770	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	28683805	91811770	10719622	56	10031											
ATXN2L	11273	broad.mit.edu	37	16	28844550	28844550	+	Silent	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:28844550A>T	uc002dqy.3	+	13	1997	c.1830A>T	c.(1828-1830)ccA>ccT	p.P610P	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Silent_p.P586P|ATXN2L_uc002dqz.3_Silent_p.P610P|ATXN2L_uc002dra.3_Silent_p.P610P|ATXN2L_uc002drb.3_Silent_p.P610P|ATXN2L_uc002drc.3_Silent_p.P610P|ATXN2L_uc010vdb.2_Silent_p.P616P|ATXN2L_uc002dre.3_Silent_p.P610P|ATXN2L_uc002drf.3_Silent_p.P19P|ATXN2L_uc002drg.3_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	610						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGACAAACCACCCCTGGCAC	0.592													T	28844550	A	T	28844550	2	4	149	1	0	0	0	0	0	0	0	1	1212	146	6	5		5	ATXN2L	16	28844550	Silent	SNP	A	TCGA-16-0861-01A-01W-0424-08		28844550	61510203	57	10032											
CCDC135	84229	broad.mit.edu	37	16	57741548	57741548	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:57741548G>A	uc002emi.3	+	6	1124	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	CCDC135_uc002emj.3_Silent_p.K345K|CCDC135_uc002emk.3_Silent_p.K280K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	345						cytoplasm		p.K345T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAACCACAAGAACTACTGGA	0.552													A	57741548	G	A	57741548	2	1	149	1	0	0	0	0	0	0	0	1	2769	933	33	3		3	CCDC135	16	57741548	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08	28896998	57741548	32613205	58	10033											
GUCY2D	3000	broad.mit.edu	37	17	7909994	7909994	+	Missense_Mutation	SNP	C	C	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:7909994C>G	uc002gjt.2	+	3	1414	c.1340C>G	c.(1339-1341)cCc>cGc	p.P447R		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	447					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			skin(1)	1		Prostate(122;0.157)				GGACCTGACCCCTCGTGCTGG	0.612													G	7909994	C	G	7909994	3	3	149	1	0	0	0	0	1	0	0	0	6897	623	22	5	1350	5	GUCY2D	17	7909994	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		7909994	73285216	59	10034											
HS3ST3A1	9955	broad.mit.edu	37	17	13400013	13400013	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:13400013A>G	uc002gob.1	-	1	1520	c.722T>C	c.(721-723)gTg>gCg	p.V241A		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	241						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCCGCACCACCACGATGAG	0.632													G	13400013	A	G	13400013	3	3	149	1	0	0	0	0	1	0	0	0	7365	159	6	4	502	4	HS3ST3A1	17	13400013	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	5490019	13400013	67795197	60	10035											
MRC2	9902	broad.mit.edu	37	17	60757258	60757258	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:60757258G>A	uc002jad.3	+	13	2695	c.2293G>A	c.(2293-2295)Gta>Ata	p.V765I	MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	765	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAGCGACGGCGTAGGGGTGAG	0.662													A	60757258	G	A	60757258	3	1	149	1	0	0	0	0	1	0	0	0	9758	1145	40	1	2347	1	MRC2	17	60757258	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	47357245	60757258	20437952	61	10036											
ARHGAP28	79822	broad.mit.edu	37	18	6894892	6894892	+	Splice_Site	SNP	T	T	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:6894892T>C	uc002knc.3	+	15	4960	c.1749_splice	c.e15+2	p.M583_splice	ARHGAP28_uc002kne.3_Splice_Site_p.M476_splice|ARHGAP28_uc010wzi.2_Splice_Site_p.M458_splice|ARHGAP28_uc002knf.3_Splice_Site_p.M467_splice	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	458					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGACGAATGGTAAGAAAAATA	0.383													C	6894892	T	C	6894892	5	2	149	1	0	0	0	0	0	0	1	0	877	1652	57	4	1480	4	ARHGAP28	18	6894892	Splice_Site	SNP	T	TCGA-16-0861-01A-01W-0424-08		6894892	71182356	62	10037											
CIDEA	1149	broad.mit.edu	37	18	12274219	12274219	+	Missense_Mutation	SNP	A	A	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:12274219A>T	uc002kqt.4	+	3	523	c.458A>T	c.(457-459)gAg>gTg	p.E153V	CIDEA_uc002kqu.4_Missense_Mutation_p.E187V|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	153					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACCATGTATGAGATGTACTCC	0.587													T	12274219	A	T	12274219	3	4	149	1	0	0	0	0	1	0	0	0	3425	304	11	5	616	5	CIDEA	18	12274219	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	5379327	12274219	65803029	63	10038											
DSC1	1823	broad.mit.edu	37	18	28736015	28736015	+	Silent	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:28736015G>A	uc002kwn.3	-	3	724	c.462C>T	c.(460-462)caC>caT	p.H154H	DSC1_uc002kwm.3_Silent_p.H154H	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	154	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTGCTGAACGTGTTGTGGAA	0.403													A	28736015	G	A	28736015	2	1	149	1	0	0	0	0	0	0	0	1	4765	1136	40	1		1	DSC1	18	28736015	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08	16461796	28736015	49341233	64	10039											
DCC	1630	broad.mit.edu	37	18	50977004	50977004	+	Missense_Mutation	SNP	A	A	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:50977004A>C	uc002lfe.2	+	22	3980	c.3364A>C	c.(3364-3366)Acc>Ccc	p.T1122P	DCC_uc010dpf.2_Missense_Mutation_p.T757P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1122					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.T1122T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTGATTTGCACCCGACGCTC	0.483													C	50977004	A	C	50977004	3	2	149	1	0	0	0	0	1	0	0	0	4282	159	6	5	3454	5	DCC	18	50977004	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	22240989	50977004	27100244	65	10040											
ZFR2	23217	broad.mit.edu	37	19	3825268	3825268	+	Silent	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:3825268C>T	uc002lyw.2	-	6	1185	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	ZFR2_uc010xhx.1_Intron	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	391						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCTTGGCCAGCGCTGGCCTGC	0.672													T	3825268	C	T	3825268	2	4	149	1	0	0	0	0	0	0	0	1	17657	755	27	1		1	ZFR2	19	3825268	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08		3825268	55303715	66	10041											
INSR	3643	broad.mit.edu	37	19	7184472	7184472	+	Missense_Mutation	SNP	C	C	T			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:7184472C>T	uc002mgd.1	-	2	938	c.829G>A	c.(829-831)Gac>Aac	p.D277N	INSR_uc002mge.1_Missense_Mutation_p.D277N|INSR_uc002mgf.3_Missense_Mutation_p.D277N	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	277	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCGCCAGTCCTGGAAGTGG	0.602													T	7184472	C	T	7184472	3	4	149	1	0	0	0	0	1	0	0	0	7773	855	30	3	3399	3	INSR	19	7184472	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	3359204	7184472	51944511	67	10042											
RAB11B	9230	broad.mit.edu	37	19	8468383	8468383	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:8468383G>A	uc002mju.4	+	4	694	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	RAB11B_uc021uof.1_Non-coding_Transcript	NM_004218	NP_004209	Q15907	RB11B_HUMAN	Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.	200					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						GGACATCAGCGTGCCGCCCAC	0.647													A	8468383	G	A	8468383	3	1	149	1	0	0	0	0	1	0	0	0	12892	1145	40	1	616	1	RAB11B	19	8468383	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	1283911	8468383	50660600	68	10043											
ZNF527	84503	broad.mit.edu	37	19	37879435	37879435	+	Missense_Mutation	SNP	G	G	C			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:37879435G>C	uc010efk.1	+	4	595	c.484G>C	c.(484-486)Gac>Cac	p.D162H	ZNF527_uc002ogf.3_Missense_Mutation_p.D130H|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGGAAAAGAGACAATGAATT	0.378													C	37879435	G	C	37879435	3	2	149	1	0	0	0	0	1	0	0	0	17965	942	33	5	498	5	ZNF527	19	37879435	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	29411052	37879435	21249548	69	10044											
GSS	2937	broad.mit.edu	37	20	33516696	33516696	+	Missense_Mutation	SNP	T	T	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr20:33516696T>A	uc002xbg.3	-	12	1440	c.1360A>T	c.(1360-1362)Atc>Ttc	p.I454F	GSS_uc010zun.2_Missense_Mutation_p.I326F|GSS_uc010zuo.2_Missense_Mutation_p.I343F|GSS_uc010zup.2_Missense_Mutation_p.I385F	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	454					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GCATGCTCGATGGCTTTGGTT	0.562													A	33516696	T	A	33516696	3	1	149	1	0	0	0	0	1	0	0	0	6829	1464	51	5	68	5	GSS	20	33516696	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08		33516696	29508824	70	10045											
MED15	51586	broad.mit.edu	37	22	20939408	20939408	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr22:20939408G>A	uc002zsp.3	+	15	2065	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	MED15_uc002zsq.3_Missense_Mutation_p.R622Q|MED15_uc010gso.3_Missense_Mutation_p.R605Q|MED15_uc002zsr.3_Missense_Mutation_p.R596Q|MED15_uc011ahs.2_Missense_Mutation_p.R596Q|MED15_uc002zss.3_Missense_Mutation_p.R541Q|MED15_uc011ahu.2_Missense_Mutation_p.R372Q|MED15_uc002zst.3_Missense_Mutation_p.R278Q|MED15_uc002zsu.3_Missense_Mutation_p.R267Q	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	662					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGTGCACCCGGAAGCGCAGG	0.682													A	20939408	G	A	20939408	3	1	149	1	0	0	0	0	1	0	0	0	9433	1116	39	2	2047	2	MED15	22	20939408	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		20939408	30365158	71	10046											
NCAPH2	29781	broad.mit.edu	37	22	50956414	50956414	+	Missense_Mutation	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr22:50956414A>G	uc003blx.4	+	5	555	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	NCAPH2_uc003blq.4_Missense_Mutation_p.I145V|NCAPH2_uc003blv.3_Missense_Mutation_p.I145V|NCAPH2_uc003blr.4_Missense_Mutation_p.I145V	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	145					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGTCCTCATCATCCCCCTCCT	0.612													G	50956414	A	G	50956414	3	3	149	1	0	0	0	0	1	0	0	0	10210	217	8	4	455	4	NCAPH2	22	50956414	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	30017006	50956414	348152	72	10047											
F9	2158	broad.mit.edu	37	X	138643014	138643014	+	Missense_Mutation	SNP	G	G	A			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chrX:138643014G>A	uc004fas.1	+	7	867	c.838_splice	c.e7+1	p.G280_splice	F9_uc004fat.1_Splice_Site_p.G242_splice	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	280	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGTTGTCGCAGGTAAATACAC	0.343													A	138643014	G	A	138643014	3	1	149	1	0	0	0	0	1	0	0	0	5351	1014	35	3	864	3	F9	23	138643014	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		138643014	16627546	73	10048											
ATP11C	286410	broad.mit.edu	37	X	138864837	138864837	+	Silent	SNP	A	A	G			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chrX:138864837A>G	uc004faz.3	-	17	1929	c.1830T>C	c.(1828-1830)gaT>gaC	p.D610D	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.D610D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	610					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTCATAATCATCTGGAG	0.353													G	138864837	A	G	138864837	2	3	149	1	0	0	0	0	0	0	0	1	1121	98	4	4		4	ATP11C	23	138864837	Silent	SNP	A	TCGA-16-0861-01A-01W-0424-08	221823	138864837	16405723	74	10049											
DMBX1	127343	broad.mit.edu	37	1	46972778	46972778	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:46972778G>A	uc001cpx.3	+	0	111	c.96G>A	c.(94-96)caG>caA	p.Q32Q	DMBX1_uc001cpw.3_Silent_p.Q32Q	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	32	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCAGGCCCAGCATGCCCCCG	0.642													A	46972778	G	A	46972778	2	1	150	1	0	0	0	0	0	0	0	1	4578	962	34	3		3	DMBX1	1	46972778	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		46972778	202277843	1	10050											
ZCCHC11	23318	broad.mit.edu	37	1	52981638	52981638	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:52981638C>G	uc001cty.2	-	2	1060	c.807G>C	c.(805-807)ttG>ttC	p.L269F	ZCCHC11_uc001ctx.2_Missense_Mutation_p.L269F|ZCCHC11_uc009vze.1_Missense_Mutation_p.L269F|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L28F|ZCCHC11_uc001cub.3_Missense_Mutation_p.L269F|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.L269F	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	269					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTCAGGTGTCAATGCAGATT	0.343													G	52981638	C	G	52981638	3	3	150	1	0	0	0	0	1	0	0	0	17577	825	29	5	4242	5	ZCCHC11	1	52981638	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	6008860	52981638	196268983	2	10051											
LRRC7	57554	broad.mit.edu	37	1	70477511	70477511	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:70477511T>C	uc001dep.3	+	9	952	c.922T>C	c.(922-924)Tgt>Cgt	p.C308R	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	308						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTGTAGCTGTAATGAACT	0.328													C	70477511	T	C	70477511	3	2	150	1	0	0	0	0	1	0	0	0	9020	1580	55	4	960	4	LRRC7	1	70477511	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	17495873	70477511	178773110	3	10052											
FAM46C	54855	broad.mit.edu	37	1	118166577	118166577	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:118166577G>A	uc021osq.1	+	0	1087	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	FAM46C_uc001ehe.3_Missense_Mutation_p.V363I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	363										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGCCCCTTACGTCAGTGATGG	0.557			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			A	118166577	G	A	118166577	3	1	150	1	0	0	0	0	1	0	0	0	5567	1145	40	1	1089	1	FAM46C	1	118166577	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	47689066	118166577	131084044	4	10053											
RGS4	5999	broad.mit.edu	37	1	163044147	163044147	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:163044147C>T	uc001gcl.4	+	5	1035	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RGS4_uc009wuy.3_Missense_Mutation_p.R139W|RGS4_uc009wuz.3_Missense_Mutation_p.P83L|RGS4_uc009wva.3_Missense_Mutation_p.R121W	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	139					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						AGAGACAAGCCGGAACATGCT	0.507													T	163044147	C	T	163044147	3	4	150	1	0	0	0	0	1	0	0	0	13307	652	23	2	728	2	RGS4	1	163044147	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	44877570	163044147	86206474	5	10054											
C1orf112	55732	broad.mit.edu	37	1	169811564	169811564	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:169811564G>A	uc001ggq.3	+	17	2432	c.1732G>A	c.(1732-1734)Gta>Ata	p.V578I	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Missense_Mutation_p.V578I|C1orf112_uc009wvt.3_Missense_Mutation_p.V255I|C1orf112_uc009wvu.1_Missense_Mutation_p.V454I|C1orf112_uc001ggr.3_Missense_Mutation_p.V443I|C1orf112_uc010plv.2_Missense_Mutation_p.V520I	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	578										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAGAACACAGTACTGTCTGC	0.403													A	169811564	G	A	169811564	3	1	150	1	0	0	0	0	1	0	0	0	1985	1029	36	3	1794	3	C1orf112	1	169811564	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	6767417	169811564	79439057	6	10055											
CEP350	9857	broad.mit.edu	37	1	180063490	180063490	+	Silent	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:180063490A>G	uc001gnt.3	+	33	8633	c.8250A>G	c.(8248-8250)aaA>aaG	p.K2750K	CEP350_uc009wxl.2_Silent_p.K2749K|CEP350_uc001gnv.3_Silent_p.K885K|CEP350_uc001gnw.1_Silent_p.K507K|CEP350_uc001gnx.1_Silent_p.K507K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2750						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACTGGAAAAAATCAGCTTAC	0.358													G	180063490	A	G	180063490	2	3	150	1	0	0	0	0	0	0	0	1	3254	11	1	4		4	CEP350	1	180063490	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08	10251926	180063490	69187131	7	10056											
CACNA1E	777	broad.mit.edu	37	1	181479699	181479699	+	Frame_Shift_Del	DEL	C	C	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:181479699delC	uc009wxt.3	+	1	548	c.353delC	c.(352-354)accfs	p.T118fs	CACNA1E_uc001gow.3_Frame_Shift_Del_p.T118fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.T118fs|CACNA1E_uc009wxr.3_Frame_Shift_Del_p.T25fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	118					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATGACAAGACCCCCATGTCC	0.527													-	181479699	C	-	181479699	7	5	150	1	0	1	0	1	0	0	0	0	2542	507	18	0	359	0	CACNA1E	1	181479699	Frame_Shift_Del	DEL	C	TCGA-16-1045-01B-01W-0611-08	1416209	181479699	67770922	8	10057											
TPR	7175	broad.mit.edu	37	1	186329081	186329081	+	Silent	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:186329081T>C	uc001grv.3	-	11	1536	c.1239A>G	c.(1237-1239)aaA>aaG	p.K413K	MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Silent_p.K489K	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	413					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGTTCTCTAGTTTCTCCAAAA	0.363			T	NTRK1	papillary thyroid								C	186329081	T	C	186329081	2	2	150	1	0	0	0	0	0	0	0	1	16413	1722	60	4		4	TPR	1	186329081	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08	4849382	186329081	62921540	9	10058											
PTPRC	5788	broad.mit.edu	37	1	198608459	198608459	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:198608459G>T	uc001gur.1	+	1	235	c.55G>T	c.(55-57)Gta>Tta	p.V19L	PTPRC_uc001gut.1_Missense_Mutation_p.V19L|PTPRC_uc001guq.3_Missense_Mutation_p.V19L|PTPRC_uc009wze.1_Missense_Mutation_p.V21L|PTPRC_uc009wzf.1_Missense_Mutation_p.V21L|PTPRC_uc021pgy.1_Missense_Mutation_p.V21L|PTPRC_uc010ppg.1_Missense_Mutation_p.V21L|PTPRC_uc001guu.1_Missense_Mutation_p.V21L|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	19					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			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						GGACACAGAAGTATTTGTGAC	0.338													T	198608459	G	T	198608459	3	4	150	1	0	0	0	0	1	0	0	0	12797	1029	36	5	57	5	PTPRC	1	198608459	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	12279378	198608459	50642162	10	10059											
RAB3GAP2	25782	broad.mit.edu	37	1	220325030	220325030	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:220325030G>A	uc010puk.1	-	33	4108	c.3944C>T	c.(3943-3945)gCg>gTg	p.A1315V	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A1315V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A895V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1315					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTGGAGAAGCGCATGAGCCAG	0.507													A	220325030	G	A	220325030	3	1	150	1	0	0	0	0	1	0	0	0	12936	1087	38	1	245	1	RAB3GAP2	1	220325030	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	21716571	220325030	28925591	11	10060											
ZP4	57829	broad.mit.edu	37	1	238053168	238053168	+	Silent	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:238053168T>A	uc001hym.3	-	3	687	c.400_splice	c.e3+1	p.A134_splice	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	134					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)			AGCCTTTACCTAGAAGATCCA	0.547													A	238053168	T	A	238053168	2	1	150	1	0	0	0	0	0	0	0	1	18215	1536	53	5		5	ZP4	1	238053168	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08	17728138	238053168	11197453	12	10061											
LOXL3	84695	broad.mit.edu	37	2	74761513	74761513	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:74761513G>A	uc002smp.1	-	10	1941	c.1869C>T	c.(1867-1869)acC>acT	p.T623T	LOXL3_uc002smo.1_Silent_p.T262T|LOXL3_uc010ffm.1_Silent_p.T567T|LOXL3_uc002smq.1_Silent_p.T478T|LOXL3_uc010ffn.1_Silent_p.T478T	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	623	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGCCATTTGGGGTGAGGATAT	0.527													A	74761513	G	A	74761513	2	1	150	1	0	0	0	0	0	0	0	1	8901	1219	43	3		3	LOXL3	2	74761513	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		74761513	168437860	13	10062											
CTNNA2	1496	broad.mit.edu	37	2	80801323	80801323	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:80801323A>T	uc010ysh.2	+	11	1782	c.1777A>T	c.(1777-1779)Att>Ttt	p.I593F	CTNNA2_uc010yse.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysf.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysg.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysi.2_Missense_Mutation_p.I225F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	593					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGAGGTTGCCATTGAAGCCCT	0.483													T	80801323	A	T	80801323	3	4	150	1	0	0	0	0	1	0	0	0	4013	217	8	5	1615	5	CTNNA2	2	80801323	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	6039810	80801323	162398050	14	10063											
POTEF	728378	broad.mit.edu	37	2	130877801	130877801	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:130877801G>T	uc010fmh.2	-	2	688	c.288C>A	c.(286-288)aaC>aaA	p.N96K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	96						cell cortex	ATP binding	p.N96N(3)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCATCTTGTTCCTGAGTG	0.612													T	130877801	G	T	130877801	3	4	150	1	0	0	0	0	1	0	0	0	12265	1368	48	5	2999	5	POTEF	2	130877801	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	50076478	130877801	112321572	15	10064											
POTEE	445582	broad.mit.edu	37	2	131976263	131976263	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:131976263C>A	uc002tsn.2	+	0	340	c.288C>A	c.(286-288)aaC>aaA	p.N96K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	96							ATP binding										CACTCAGGAACAAGATGGGGA	0.617													A	131976263	C	A	131976263	3	1	150	1	0	0	0	0	1	0	0	0	12264	477	17	5	290	5	POTEE	2	131976263	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	1098462	131976263	111223110	16	10065											
RAB3GAP1	22930	broad.mit.edu	37	2	135893152	135893155	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:135893152_135893155delGAAA	uc010fnf.3	+	16	1616_1619	c.1573_1576delGAAA	c.(1573-1578)gaaagafs	p.E525fs	RAB3GAP1_uc002tuj.3_Frame_Shift_Del_p.E525fs|RAB3GAP1_uc010fng.3_Frame_Shift_Del_p.E350fs|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	525						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTGTTGTATTGAAAGAAAGAAGGC	0.333													-	135893155	GAAA	-	135893152	7	5	150	1	0	1	0	1	0	0	0	0	12935	1291	45	0	1639	0	RAB3GAP1	2	135893152	Frame_Shift_Del	DEL	GAAA	TCGA-16-1045-01B-01W-0611-08	3916889	135893152	107306221	17	10066											
TTN	7273	broad.mit.edu	37	2	179500424	179500424	+	Frame_Shift_Del	DEL	A	A	-			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:179500424delA	uc021vsy.1	-	175	34148	c.33923delT	c.(33922-33924)ctgfs	p.L11308fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.L5003fs|TTN_uc021vta.1_Frame_Shift_Del_p.L4936fs|TTN_uc021vtb.1_Frame_Shift_Del_p.L4811fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12235	Glu-rich.|Pro-rich.						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)			AGGTTTCACCAGCCAATCTCT	0.353													-	179500424	A	-	179500424	7	5	150	1	0	1	0	1	0	0	0	0	16732	188	7	0	66610	0	TTN	2	179500424	Frame_Shift_Del	DEL	A	TCGA-16-1045-01B-01W-0611-08	43607272	179500424	63698949	18	10067											
KLF7	8609	broad.mit.edu	37	2	207988812	207988812	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:207988812G>A	uc002vbz.1	-	1	741	c.419C>T	c.(418-420)tCg>tTg	p.S140L	KLF7_uc002vca.1_Missense_Mutation_p.S140L|KLF7_uc010zix.1_Missense_Mutation_p.S112L	NM_003709	NP_003700	O75840	KLF7_HUMAN	Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA.	140					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CTCAGGGGACGATGGGGGCGT	0.597													A	207988812	G	A	207988812	3	1	150	1	0	0	0	0	1	0	0	0	8351	1059	37	2	501	2	KLF7	2	207988812	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	28488388	207988812	35210561	19	10068											
DOCK10	55619	broad.mit.edu	37	2	225666723	225666723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:225666723G>A	uc010fwz.1	-	39	4542	c.4303C>T	c.(4303-4305)Cag>Tag	p.Q1435*	DOCK10_uc002vob.2_Nonsense_Mutation_p.Q1429*|DOCK10_uc002voa.2_Nonsense_Mutation_p.Q91*|DOCK10_uc002voc.2_Nonsense_Mutation_p.Q289*	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1435							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GATCTGTGCTGCTTATGGCCT	0.378													A	225666723	G	A	225666723	4	1	150	1	0	0	0	0	0	1	0	0	4685	1328	46	3	2325	3	DOCK10	2	225666723	Nonsense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	17677911	225666723	17532650	20	10069											
CAPN10	11132	broad.mit.edu	37	2	241556394	241556394	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:241556394C>T	uc002vzq.2	+	4	594	c.398_splice	c.e4-1	p.A133_splice	GPR35_uc010fzi.2_Intron|GPR35_uc010fzh.2_Intron			Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 3, mRNA.	0	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		taccaacagccacctggggga	0.537													T	241556394	C	T	241556394	2	4	150	1	0	0	0	0	0	0	0	1	2623	608	21	3		3	CAPN10	2	241556394	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	15889671	241556394	1642979	21	10070											
IL5RA	3568	broad.mit.edu	37	3	3139898	3139898	+	Silent	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:3139898T>C	uc011ask.2	-	6	1088	c.444A>G	c.(442-444)tcA>tcG	p.S148S	IL5RA_uc010hbq.3_Silent_p.S148S|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.S148S|IL5RA_uc011asl.2_Silent_p.S148S|IL5RA_uc011asm.1_Silent_p.S148S|IL5RA_uc010hbt.2_Silent_p.S148S|IL5RA_uc011asn.1_Silent_p.S148S|IL5RA_uc010hbu.2_Silent_p.S148S	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	148					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AAACTTGGTATGACCTTAAAC	0.413													C	3139898	T	C	3139898	2	2	150	1	0	0	0	0	0	0	0	1	7700	1451	51	4		4	IL5RA	3	3139898	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08		3139898	194882532	22	10071											
GADL1	339896	broad.mit.edu	37	3	30885739	30885739	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:30885739T>A	uc003cep.2	-	7	796	c.749A>T	c.(748-750)gAg>gTg	p.E250V	GADL1_uc003ceq.1_Missense_Mutation_p.E250V	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	250					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTCCAGTTCCTCAGGTATCAT	0.438													A	30885739	T	A	30885739	3	1	150	1	0	0	0	0	1	0	0	0	6185	1551	54	5	848	5	GADL1	3	30885739	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	27745841	30885739	167136691	23	10072											
FLNB	2317	broad.mit.edu	37	3	58135696	58135696	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:58135696G>A	uc003djj.2	+	36	6376	c.6211G>A	c.(6211-6213)Gtc>Atc	p.V2071I	FLNB_uc010hne.2_Missense_Mutation_p.V2102I|FLNB_uc003djk.2_Missense_Mutation_p.V2060I|FLNB_uc010hnf.2_Missense_Mutation_p.V2047I|FLNB_uc003djl.2_Missense_Mutation_p.V1891I|FLNB_uc003djm.2_Missense_Mutation_p.V1878I|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2071	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTTTATATCGTCTCCACCAA	0.562													A	58135696	G	A	58135696	3	1	150	1	0	0	0	0	1	0	0	0	5934	1145	40	1	6454	1	FLNB	3	58135696	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	27249957	58135696	139886734	24	10073											
PHLDB2	90102	broad.mit.edu	37	3	111632476	111632476	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:111632476G>A	uc010hqa.3	+	2	2057	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	PHLDB2_uc003dyc.3_Missense_Mutation_p.R576Q|PHLDB2_uc003dyd.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyg.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyh.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyi.3_Missense_Mutation_p.R135Q|PHLDB2_uc003dyf.4_Missense_Mutation_p.R549Q	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	549						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACCTCACCCGGACTCCTCCA	0.522													A	111632476	G	A	111632476	3	1	150	1	0	0	0	0	1	0	0	0	11852	1116	39	2	1737	2	PHLDB2	3	111632476	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	53496780	111632476	86389954	25	10074											
PCCB	5096	broad.mit.edu	37	3	135980854	135980854	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:135980854G>A	uc011bmc.2	+	5	601	c.550G>A	c.(550-552)Gca>Aca	p.A184T	PCCB_uc003eqz.1_Missense_Mutation_p.A164T|PCCB_uc003eqy.2_Missense_Mutation_p.A164T|PCCB_uc011bmd.1_Missense_Mutation_p.A81T	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	164	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CTCTGGGGGAGCACGGATCCA	0.458													A	135980854	G	A	135980854	3	1	150	1	0	0	0	0	1	0	0	0	11505	971	34	3	572	3	PCCB	3	135980854	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	24348378	135980854	62041576	26	10075											
MECOM	2122	broad.mit.edu	37	3	168845829	168845829	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:168845829G>A	uc011bpj.1	-	4	1036	c.633C>T	c.(631-633)tgC>tgT	p.C211C	MECOM_uc010hwk.1_Silent_p.C46C|MECOM_uc003ffj.3_Silent_p.C87C|MECOM_uc003ffi.3_Silent_p.C23C|MECOM_uc011bpi.1_Silent_p.C23C|MECOM_uc003ffn.3_Silent_p.C23C|MECOM_uc003ffk.2_Silent_p.C23C|MECOM_uc003ffl.2_Silent_p.C183C|MECOM_uc011bpk.1_Silent_p.C23C|MECOM_uc010hwn.2_Silent_p.C211C|MECOM_uc003ffm.1_Silent_p.C87C	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.C23*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACAGTCTTCGCAGCGATATT	0.433													A	168845829	G	A	168845829	2	1	150	1	0	0	0	0	0	0	0	1	9422	1079	38	1		1	MECOM	3	168845829	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	32864975	168845829	29176601	27	10076											
MUC4	4585	broad.mit.edu	37	3	195498599	195498599	+	Missense_Mutation	SNP	C	C	T	rs145772547		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:195498599C>T	uc021xjp.1	-	4	13322	c.13166G>A	c.(13165-13167)cGg>cAg	p.R4389Q	MUC4_uc003fuz.3_Missense_Mutation_p.G69R|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.R130Q|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.R130Q|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.R153Q|MUC4_uc003fvp.3_Missense_Mutation_p.R102Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1146					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		CACAGGGTCCCGGCCTGTGAA	0.562													T	195498599	C	T	195498599	3	4	150	1	0	0	0	0	1	0	0	0	9978	652	23	2	3156	2	MUC4	3	195498599	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	26652770	195498599	2523831	28	10077											
SLC10A4	201780	broad.mit.edu	37	4	48486116	48486116	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:48486116G>A	uc003gyc.2	+	0	757	c.538G>A	c.(538-540)Ggc>Agc	p.G180S		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	180						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTGTCCCGGCGGCAATCTCTC	0.632													A	48486116	G	A	48486116	3	1	150	1	0	0	0	0	1	0	0	0	14376	1116	39	2	540	2	SLC10A4	4	48486116	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		48486116	142668160	29	10078											
YTHDC1	91746	broad.mit.edu	37	4	69184554	69184554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:69184554C>A	uc003hdx.3	-	12	2064	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	YTHDC1_uc003hdy.3_Nonsense_Mutation_p.E553*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	571	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTGTCCACTTCCTGGTATCGT	0.318													A	69184554	C	A	69184554	4	1	150	1	0	0	0	0	0	1	0	0	17493	864	30	5	492	5	YTHDC1	4	69184554	Nonsense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	20698438	69184554	121969722	30	10079											
SGMS2	166929	broad.mit.edu	37	4	108831540	108831540	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:108831540C>T	uc003hyo.3	+	5	1568	c.929C>T	c.(928-930)tCt>tTt	p.S310F	SGMS2_uc003hyl.4_Missense_Mutation_p.S310F|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Missense_Mutation_p.S310F	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	310					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	AATTTCTTATCTCGAGCATGG	0.388													T	108831540	C	T	108831540	3	4	150	1	0	0	0	0	1	0	0	0	14215	913	32	3	947	3	SGMS2	4	108831540	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	39646986	108831540	82322736	31	10080											
TBC1D9	23158	broad.mit.edu	37	4	141545490	141545490	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:141545490C>T	uc010ioj.3	-	18	3224	c.2952G>A	c.(2950-2952)acG>acA	p.T984T		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	984						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTAGGCTCACCGTAACAAAGC	0.373													T	141545490	C	T	141545490	2	4	150	1	0	0	0	0	0	0	0	1	15624	639	23	2		2	TBC1D9	4	141545490	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	32713950	141545490	49608786	32	10081											
SLC6A18	348932	broad.mit.edu	37	5	1225635	1225635	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:1225635G>A	uc003jby.2	+	0	166	c.43G>A	c.(43-45)Ggg>Agg	p.G15R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	15					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCGACCTCGGGGATGAGAG	0.642													A	1225635	G	A	1225635	3	1	150	1	0	0	0	0	1	0	0	0	14681	1116	39	2	45	2	SLC6A18	5	1225635	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		1225635	179689625	33	10082											
LHFPL2	10184	broad.mit.edu	37	5	77784877	77784877	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:77784877C>T	uc003kfo.3	-	4	1206	c.530G>A	c.(529-531)gGa>gAa	p.G177E		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	177						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGCAGTCTCCAGGTTTGTA	0.512													T	77784877	C	T	77784877	3	4	150	1	0	0	0	0	1	0	0	0	8765	855	30	3	160	3	LHFPL2	5	77784877	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	76559242	77784877	103130383	34	10083											
ARSK	153642	broad.mit.edu	37	5	94918696	94918696	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:94918696C>T	uc003kld.3	+	3	651	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	ARSK_uc010jbg.3_Missense_Mutation_p.R6C|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	165						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TAATCTTATCCGTAACAGGAC	0.418													T	94918696	C	T	94918696	3	4	150	1	0	0	0	0	1	0	0	0	996	652	23	2	507	2	ARSK	5	94918696	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	17133819	94918696	85996564	35	10084											
PHF15	23338	broad.mit.edu	37	5	133902013	133902013	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:133902013C>T	uc003kzk.2	+	8	1263	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	PHF15_uc011cxt.1_Missense_Mutation_p.R393C|PHF15_uc003kzl.2_Missense_Mutation_p.R393C|PHF15_uc003kzm.2_Missense_Mutation_p.R393C|PHF15_uc003kzn.2_Missense_Mutation_p.R393C|PHF15_uc003kzo.1_Missense_Mutation_p.R393C|PHF15_uc003kzp.3_Missense_Mutation_p.R101C	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	393					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGACCCTGCGCAAGCAGCG	0.642													T	133902013	C	T	133902013	3	4	150	1	0	0	0	0	1	0	0	0	11826	768	27	1	1207	1	PHF15	5	133902013	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	38983317	133902013	47013247	36	10085											
EBF1	1879	broad.mit.edu	37	5	158523369	158523369	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:158523369G>T	uc010jip.3	-	2	639	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	EBF1_uc011ddw.2_5'UTR|EBF1_uc011ddx.2_Missense_Mutation_p.Q113K|EBF1_uc003lxl.4_Missense_Mutation_p.Q113K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	113					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGAGAAGCTGAAGCCGGTAG	0.592			T	HMGA2	lipoma								T	158523369	G	T	158523369	3	4	150	1	0	0	0	0	1	0	0	0	4880	1299	45	5	1494	5	EBF1	5	158523369	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	24621356	158523369	22391891	37	10086											
TDP2	51567	broad.mit.edu	37	6	24666809	24666809	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:24666809C>T	uc003nej.3	-	1	221	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	TDP2_uc010jpu.1_Missense_Mutation_p.V66M|ACOT13_uc010jpv.3_5'Flank|ACOT13_uc003nek.3_5'Flank	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	66					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						CTCTCCTCCACCGGAGGCTCG	0.582								Direct reversal of damage					T	24666809	C	T	24666809	3	4	150	1	0	0	0	0	1	0	0	0	15726	507	18	3	916	3	TDP2	6	24666809	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		24666809	146448258	38	10087											
UHRF1BP1	54887	broad.mit.edu	37	6	34839664	34839664	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:34839664G>A	uc003oju.4	+	19	4393	c.4159G>A	c.(4159-4161)Gtg>Atg	p.V1387M	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1387										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAAAGAACAGGTGTTTTTGGT	0.468													A	34839664	G	A	34839664	3	1	150	1	0	0	0	0	1	0	0	0	16965	1261	44	3	4237	3	UHRF1BP1	6	34839664	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	10172855	34839664	136275403	39	10088											
TREML4	285852	broad.mit.edu	37	6	41196175	41196175	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:41196175G>A	uc003oqc.3	+	0	114	c.10G>A	c.(10-12)Ggt>Agt	p.G4S	TREML4_uc003oqd.3_5'Flank	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	4						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AATGGCCTGGGGTGGGGTCCA	0.597													A	41196175	G	A	41196175	3	1	150	1	0	0	0	0	1	0	0	0	16471	1232	43	3	12	3	TREML4	6	41196175	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	6356511	41196175	129918892	40	10089											
FAM83B	222584	broad.mit.edu	37	6	54804576	54804576	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:54804576T>G	uc003pck.3	+	4	923	c.807T>G	c.(805-807)ttT>ttG	p.F269L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	269										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)					TTGAGTCCTTTGATGAAGAAT	0.398													G	54804576	T	G	54804576	3	3	150	1	0	0	0	0	1	0	0	0	5634	1809	63	5	821	5	FAM83B	6	54804576	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	13608401	54804576	116310491	41	10090											
ADAP1	11033	broad.mit.edu	37	7	959664	959664	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:959664C>T	uc003sjo.4	-	3	522	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	ADAP1_uc011jvs.2_Missense_Mutation_p.R15Q|ADAP1_uc003sjn.4_Missense_Mutation_p.R38Q|ADAP1_uc010ksc.3_Missense_Mutation_p.R38Q	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	110	Arf-GAP.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	p.R110Q(2)		endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTACTTGGCCCGGATCCACTG	0.682													T	959664	C	T	959664	3	4	150	1	0	0	0	0	1	0	0	0	279	652	23	2	827	2	ADAP1	7	959664	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		959664	158178999	42	10091											
MAD1L1	8379	broad.mit.edu	37	7	2255803	2255803	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:2255803G>A	uc003slh.1	-	7	1064	c.798C>T	c.(796-798)agC>agT	p.S266S	MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.S266S|MAD1L1_uc003slg.1_Silent_p.S266S|MAD1L1_uc010ksh.1_Silent_p.S266S|MAD1L1_uc003sli.1_Silent_p.S174S|MAD1L1_uc010ksi.1_Silent_p.S219S|MAD1L1_uc010ksj.3_Silent_p.S266S	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	266					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCAGGTGCGCGCTCTCCTCCC	0.637													A	2255803	G	A	2255803	2	1	150	1	0	0	0	0	0	0	0	1	9147	1078	38	1		1	MAD1L1	7	2255803	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	1296139	2255803	156882860	43	10092											
ELMO1	9844	broad.mit.edu	37	7	36917679	36917679	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:36917679C>T	uc022abv.1	-	18	2468	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	ELMO1_uc003tfi.2_Silent_p.L106L|ELMO1_uc003tfj.2_Silent_p.L106L|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Silent_p.L490L|ELMO1_uc003tfk.2_Silent_p.L586L|ELMO1_uc010kxg.2_Silent_p.L586L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	586	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTCCGTAATGCAGGACTTTGT	0.453													T	36917679	C	T	36917679	2	4	150	1	0	0	0	0	0	0	0	1	5065	697	25	3		3	ELMO1	7	36917679	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	34661876	36917679	122220984	44	10093											
ELMO1	9844	broad.mit.edu	37	7	37172811	37172811	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:37172811G>A	uc022abv.1	-	13	1825	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	ELMO1_uc011kbc.2_Missense_Mutation_p.T276M|ELMO1_uc003tfk.2_Missense_Mutation_p.T372M|ELMO1_uc010kxg.2_Missense_Mutation_p.T372M	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	372	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.T372M(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGGAGTCTGCGTGAAGTCCAT	0.463													A	37172811	G	A	37172811	3	1	150	1	0	0	0	0	1	0	0	0	5065	1145	40	1	1104	1	ELMO1	7	37172811	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	255132	37172811	121965852	45	10094											
DDC	1644	broad.mit.edu	37	7	50596925	50596925	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:50596925A>G	uc003tpg.4	-	4	752	c.551T>C	c.(550-552)gTg>gCg	p.V184A	DDC_uc022ade.1_Missense_Mutation_p.V106A|DDC_uc003tpf.4_Missense_Mutation_p.V184A|DDC_uc022adb.1_Missense_Mutation_p.V146A|DDC_uc022adc.1_Missense_Mutation_p.V184A|DDC_uc022add.1_Intron|DDC_uc022adf.1_Missense_Mutation_p.V184A|LOC100129427_uc022adg.1_5'Flank	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	184					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.V184V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGAGTAAGCCACCAGCTTCTC	0.547													G	50596925	A	G	50596925	3	3	150	1	0	0	0	0	1	0	0	0	4325	159	6	4	931	4	DDC	7	50596925	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	13424114	50596925	108541738	46	10095											
EGFR	1956	broad.mit.edu	37	7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:55221743A>C	uc003tqk.3	+	6	1033	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_uc003tqh.3_Missense_Mutation_p.T263P|EGFR_uc003tqi.3_Missense_Mutation_p.T263P|EGFR_uc003tqj.3_Missense_Mutation_p.T263P|EGFR_uc022adm.1_Missense_Mutation_p.T263P|EGFR_uc010kzg.2_Missense_Mutation_p.T218P|EGFR_uc022adn.1_Missense_Mutation_p.T218P|EGFR_uc011kco.2_Missense_Mutation_p.T210P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T263P(8)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCAAGGACACCTGCCCCCC	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55221743	A	C	55221743	3	2	150	1	0	0	0	0	1	0	0	0	4967	159	6	5	813	5	EGFR	7	55221743	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	4624818	55221743	103916920	47	10096											
CACNA2D1	781	broad.mit.edu	37	7	81589046	81589046	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:81589046C>T	uc003uhr.1	-	36	3322	c.3066G>A	c.(3064-3066)gcG>gcA	p.A1022A	CACNA2D1_uc011kgy.1_Silent_p.A234A	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	1034						voltage-gated calcium channel complex	metal ion binding			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)	AAGTCTGCTCCGCTTGTATGA	0.368													T	81589046	C	T	81589046	2	4	150	1	0	0	0	0	0	0	0	1	2548	639	23	2		2	CACNA2D1	7	81589046	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	26367303	81589046	77549617	48	10097											
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:87214993G>A	uc003uiz.2	-	4	614	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_uc011khc.2_Missense_Mutation_p.R41C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	41					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R41H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTGAATAGCGAAACTAAAAA	0.378													A	87214993	G	A	87214993	3	1	150	1	0	0	0	0	1	0	0	0	40	1058	37	2	3821	2	ABCB1	7	87214993	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	5625947	87214993	71923670	49	10098											
RUNDC3B	154661	broad.mit.edu	37	7	87280179	87280179	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:87280179C>A	uc003ujb.3	+	1	575	c.164C>A	c.(163-165)aCa>aAa	p.T55K	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.T55K|RUNDC3B_uc011khe.2_Missense_Mutation_p.T55K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.T55K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	55										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGCTTTGAGACAATTGATGAT	0.338													A	87280179	C	A	87280179	3	1	150	1	0	0	0	0	1	0	0	0	13745	478	17	5	170	5	RUNDC3B	7	87280179	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	65186	87280179	71858484	50	10099											
PON1	5444	broad.mit.edu	37	7	94937424	94937424	+	Silent	SNP	A	A	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:94937424A>T	uc003uns.3	-	5	694	c.597T>A	c.(595-597)ggT>ggA	p.G199G	PON1_uc011kih.2_Silent_p.G199G	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	199					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.L198fs*3(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACCACGCTAAACCCAAATACA	0.418													T	94937424	A	T	94937424	2	4	150	1	0	0	0	0	0	0	0	1	12248	30	2	5		5	PON1	7	94937424	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08	7657245	94937424	64201239	51	10100											
LRCH4	4034	broad.mit.edu	37	7	100175848	100175848	+	Silent	SNP	G	G	A	rs150987161	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:100175848G>A	uc003uvj.3	-	6	935	c.882C>T	c.(880-882)taC>taT	p.Y294Y	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	294					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCACCATCGTACCGATGTC	0.597													A	100175848	G	A	100175848	2	1	150	1	0	0	0	0	0	0	0	1	8935	1140	40	1		1	LRCH4	7	100175848	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	5238424	100175848	58962815	52	10101											
PCOLCE	5118	broad.mit.edu	37	7	100201641	100201641	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:100201641C>T	uc003uvo.3	+	2	462	c.264C>T	c.(262-264)ccC>ccT	p.P88P	LOC100129845_uc011kjy.2_Non-coding_Transcript|LOC100129845_uc022air.1_5'Flank|PCOLCE_uc011kkb.1_Silent_p.P88P	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	88	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.H87P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCTGCACCCCGCCTGCCGCT	0.672													T	100201641	C	T	100201641	2	4	150	1	0	0	0	0	0	0	0	1	11594	639	23	2		2	PCOLCE	7	100201641	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	25793	100201641	58937022	53	10102											
SH2D4A	63898	broad.mit.edu	37	8	19190497	19190497	+	Silent	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:19190497A>G	uc003wzc.3	+	2	521	c.213A>G	c.(211-213)ggA>ggG	p.G71G	SH2D4A_uc003wzb.3_Silent_p.G71G|SH2D4A_uc011kym.2_Silent_p.G26G	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	71						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGAAACTTGGAGCTGATAAGG	0.408													G	19190497	A	G	19190497	2	3	150	1	0	0	0	0	0	0	0	1	14235	291	11	4		4	SH2D4A	8	19190497	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08		19190497	127173525	54	10103											
CPSF1	29894	broad.mit.edu	37	8	145623823	145623823	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:145623823G>A	uc003zcj.3	-	18	1838	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	588					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCCTGCCCCGTCTGCAGGAT	0.672													A	145623823	G	A	145623823	3	1	150	1	0	0	0	0	1	0	0	0	3824	1145	40	1	2648	1	CPSF1	8	145623823	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	126433326	145623823	740199	55	10104											
LRRC14	9684	broad.mit.edu	37	8	145745327	145745327	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:145745327G>A	uc003zdk.2	+	1	392	c.218G>A	c.(217-219)cGt>cAt	p.R73H	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.R73H	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	73										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACTGCAGCCGTGCCCTCCTG	0.627													A	145745327	G	A	145745327	3	1	150	1	0	0	0	0	1	0	0	0	8968	1145	40	1	220	1	LRRC14	8	145745327	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	121504	145745327	618695	56	10105											
VLDLR	7436	broad.mit.edu	37	9	2643641	2643641	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:2643641C>T	uc003zhk.1	+	5	1231	c.834C>T	c.(832-834)tgC>tgT	p.C278C	VLDLR_uc003zhl.1_Silent_p.C278C|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	278	LDL-receptor class A 7.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTCGAACTTGCCGACCTGACC	0.488													T	2643641	C	T	2643641	2	4	150	1	0	0	0	0	0	0	0	1	17171	747	26	3		3	VLDLR	9	2643641	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08		2643641	138569790	57	10106											
FAM122A	116224	broad.mit.edu	37	9	71395730	71395730	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:71395730T>C	uc004agw.1	+	0	767	c.650T>C	c.(649-651)tTt>tCt	p.F217S	PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.	217										endometrium(1)|lung(2)	3						CCAAAGAGATTTTTCCAGGGC	0.453													C	71395730	T	C	71395730	3	2	150	1	0	0	0	0	1	0	0	0	5419	1841	64	4	652	4	FAM122A	9	71395730	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	68752089	71395730	69817701	58	10107											
NFIL3	4783	broad.mit.edu	37	9	94172272	94172272	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:94172272C>T	uc022bjt.1	-	0	745	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	NFIL3_uc004arh.3_Missense_Mutation_p.G249R	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	249					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AAAGAATTCCCCATATAGTTT	0.498													T	94172272	C	T	94172272	3	4	150	1	0	0	0	0	1	0	0	0	10373	623	22	3	647	3	NFIL3	9	94172272	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	22776542	94172272	47041159	59	10108											
FGD3	89846	broad.mit.edu	37	9	95768391	95768391	+	Nonsense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:95768391C>T	uc004asz.2	+	5	1294	c.766C>T	c.(766-768)Cga>Tga	p.R256*	FGD3_uc004asw.2_Nonsense_Mutation_p.R256*|FGD3_uc004asx.2_Nonsense_Mutation_p.R256*|FGD3_uc004ata.3_Nonsense_Mutation_p.R59*	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	256	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAACTTTGACCGAGCCGTAGG	0.582													T	95768391	C	T	95768391	4	4	150	1	0	0	0	0	0	1	0	0	5834	644	23	2	780	2	FGD3	9	95768391	Nonsense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	1596119	95768391	45445040	60	10109											
HEMGN	55363	broad.mit.edu	37	9	100700360	100700360	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:100700360T>C	uc004axy.3	-	0	167	c.59A>G	c.(58-60)cAa>cGa	p.Q20R	HEMGN_uc004axz.3_Missense_Mutation_p.Q20R	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	20	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTCTCTTCTTGATGAGGGTC	0.423													C	100700360	T	C	100700360	3	2	150	1	0	0	0	0	1	0	0	0	7050	1812	63	4	1411	4	HEMGN	9	100700360	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	4931969	100700360	40513071	61	10110											
KLF4	9314	broad.mit.edu	37	9	110249362	110249362	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:110249362C>T	uc004bdh.3	-	2	1907	c.1286G>A	c.(1285-1287)gGc>gAc	p.G429D	KLF4_uc004bdf.2_Missense_Mutation_p.G354D|KLF4_uc022blk.1_Missense_Mutation_p.G70D|KLF4_uc004bdg.3_Missense_Mutation_p.G404D	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	438					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A429S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTAGGTTTTGCCGCAGCCCGC	0.602													T	110249362	C	T	110249362	3	4	150	1	0	0	0	0	1	0	0	0	8348	739	26	3	236	3	KLF4	9	110249362	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	9549002	110249362	30964069	62	10111											
PTEN	5728	broad.mit.edu	37	10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	rs121909231		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:89720852C>T	uc001kfb.3	+	7	2035	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720852	C	T	89720852	4	4	150	1	0	0	0	0	0	1	0	0	12738	644	23	2	1033	2	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		89720852	45813895	63	10112											
COL17A1	1308	broad.mit.edu	37	10	105813706	105813706	+	Silent	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:105813706T>C	uc001kxr.3	-	21	1975	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	COL17A1_uc010qqv.1_Silent_p.Q586Q	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	602	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTTGGTCCTTGTGGACCTG	0.443													C	105813706	T	C	105813706	2	2	150	1	0	0	0	0	0	0	0	1	3674	1606	56	4		4	COL17A1	10	105813706	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08	16092854	105813706	29721041	64	10113											
WDR11	55717	broad.mit.edu	37	10	122645345	122645345	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:122645345A>G	uc021pzt.1	+	14	2114	c.1868A>G	c.(1867-1869)aAc>aGc	p.N623S	WDR11_uc010qte.2_Missense_Mutation_p.N225S|WDR11_uc001lfd.1_Missense_Mutation_p.N141S	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	623						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CCATCTCACAACTTGAAGAGC	0.488													G	122645345	A	G	122645345	3	3	150	1	0	0	0	0	1	0	0	0	17270	43	2	4	1926	4	WDR11	10	122645345	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	16831639	122645345	12889402	65	10114											
OR51A2	401667	broad.mit.edu	37	11	4976146	4976146	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:4976146G>A	uc010qyt.2	-	0	798	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACATGCCCGGCAAAGCGGT	0.453													A	4976146	G	A	4976146	2	1	150	1	0	0	0	0	0	0	0	1	11086	1103	39	2		2	OR51A2	11	4976146	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		4976146	130030370	66	10115											
TRIM5	85363	broad.mit.edu	37	11	5699638	5699638	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:5699638G>A	uc001mbm.2	-	3	843	c.540C>T	c.(538-540)aaC>aaT	p.N180N	TRIM5_uc001mbq.1_Silent_p.N180N|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Silent_p.N180N|TRIM5_uc001mbp.3_Silent_p.N180N|TRIM5_uc021qcx.1_Silent_p.N180N	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	180					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	p.N180S(1)|p.T179S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTGCCAAGACGTTGGTTTTGT	0.473													A	5699638	G	A	5699638	2	1	150	1	0	0	0	0	0	0	0	1	16522	1136	40	1		1	TRIM5	11	5699638	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	723492	5699638	129306878	67	10116											
NAV2	89797	broad.mit.edu	37	11	20065530	20065530	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:20065530G>A	uc010rdm.2	+	13	3341	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	NAV2_uc001mpp.3_Missense_Mutation_p.D907N|NAV2_uc001mpr.4_Missense_Mutation_p.D971N|NAV2_uc021qew.1_Missense_Mutation_p.D971N|NAV2_uc001mpt.2_Missense_Mutation_p.D57N|NAV2_uc009yhx.3_Missense_Mutation_p.D57N|NAV2_uc009yhy.1_5'UTR	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	994						nucleus	ATP binding|helicase activity	p.D994N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCACAGACTGATGCTGAGAA	0.507													A	20065530	G	A	20065530	3	1	150	1	0	0	0	0	1	0	0	0	10184	1290	45	3	3070	3	NAV2	11	20065530	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	14365892	20065530	114940986	68	10117											
OR10AG1	282770	broad.mit.edu	37	11	55735214	55735214	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:55735214G>T	uc010rit.2	-	0	726	c.726C>A	c.(724-726)ttC>ttA	p.F242L		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CTGCTCCAAAGAATAAGATTA	0.388													T	55735214	G	T	55735214	3	4	150	1	0	0	0	0	1	0	0	0	10897	933	33	5	182	5	OR10AG1	11	55735214	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	35669684	55735214	79271302	69	10118											
OR5B2	390190	broad.mit.edu	37	11	58189829	58189829	+	Silent	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:58189829C>A	uc010rkg.2	-	0	958	c.906G>T	c.(904-906)gtG>gtT	p.V302V		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCTTCTCAACACTTTCTTGA	0.383													A	58189829	C	A	58189829	2	1	150	1	0	0	0	0	0	0	0	1	11150	465	17	5		5	OR5B2	11	58189829	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	2454615	58189829	76816687	70	10119											
WDR74	54663	broad.mit.edu	37	11	62602979	62602979	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:62602979C>T	uc001nvm.2	-	6	710	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	WDR74_uc001nvl.2_Missense_Mutation_p.R181Q|WDR74_uc009yoi.2_Missense_Mutation_p.R181Q|WDR74_uc010rmk.2_3'UTR	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	Homo sapiens WD repeat domain 74 (WDR74), mRNA.	181						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GATGGGAACCCGCAAGTCCAG	0.607													T	62602979	C	T	62602979	3	4	150	1	0	0	0	0	1	0	0	0	17321	652	23	2	639	2	WDR74	11	62602979	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	4413150	62602979	72403537	71	10120											
HTR3B	9177	broad.mit.edu	37	11	113813844	113813844	+	Silent	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:113813844G>T	uc001pok.3	+	6	975	c.837G>T	c.(835-837)gtG>gtT	p.V279V	HTR3B_uc001pol.3_Silent_p.V268V	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	279					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GTGTGCTGGTGGGCTACACCG	0.572													T	113813844	G	T	113813844	2	4	150	1	0	0	0	0	0	0	0	1	7445	1335	47	5		5	HTR3B	11	113813844	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	51210865	113813844	21192672	72	10121											
VWF	7450	broad.mit.edu	37	12	6058287	6058287	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:6058287G>A	uc001qnn.1	-	51	8586	c.8336C>T	c.(8335-8337)aCg>aTg	p.T2779M	ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2779	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.R2778Q(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATGGGCTCCGTCCGTGTCGG	0.562													A	6058287	G	A	6058287	3	1	150	1	0	0	0	0	1	0	0	0	17243	1145	40	1	109	1	VWF	12	6058287	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		6058287	127793608	73	10122											
GYS2	2998	broad.mit.edu	37	12	21733300	21733300	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:21733300G>A	uc001rfb.3	-	1	534	c.279C>T	c.(277-279)gaC>gaT	p.D93D		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	93					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TATTCATTGCGTCCACTGCTC	0.403													A	21733300	G	A	21733300	2	1	150	1	0	0	0	0	0	0	0	1	6913	1136	40	1		1	GYS2	12	21733300	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	15675013	21733300	112118595	74	10123											
MBD6	114785	broad.mit.edu	37	12	57922312	57922312	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:57922312C>T	uc001soj.1	+	9	3013	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	MBD6_uc001sok.1_Missense_Mutation_p.P798L|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	930						chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AAGGATCCACCCCCTCCCGGG	0.577													T	57922312	C	T	57922312	3	4	150	1	0	0	0	0	1	0	0	0	9348	623	22	3	2819	3	MBD6	12	57922312	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	36189012	57922312	75929583	75	10124											
ZFC3H1	196441	broad.mit.edu	37	12	72025622	72025622	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:72025622T>C	uc001swo.2	-	15	3765	c.3406A>G	c.(3406-3408)Atg>Gtg	p.M1136V		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1136					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCACTTCCATTGTTTTACTT	0.358													C	72025622	T	C	72025622	3	2	150	1	0	0	0	0	1	0	0	0	17630	1493	52	4	2643	4	ZFC3H1	12	72025622	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	14103310	72025622	61826273	76	10125											
SSH1	54434	broad.mit.edu	37	12	109212060	109212060	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:109212060T>A	uc001tnm.3	-	3	331	c.244A>T	c.(244-246)Atc>Ttc	p.I82F	SSH1_uc010sxg.2_Missense_Mutation_p.I93F|SSH1_uc001tnn.4_Missense_Mutation_p.I82F|SSH1_uc001tno.1_5'Flank	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	82					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAAGGTTGATCATCACCTGA	0.383													A	109212060	T	A	109212060	3	1	150	1	0	0	0	0	1	0	0	0	15183	1435	50	5	3139	5	SSH1	12	109212060	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	37186438	109212060	24639835	77	10126											
ACACB	32	broad.mit.edu	37	12	109639415	109639415	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:109639415G>A	uc001tob.3	+	18	2941	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	ACACB_uc001toc.3_Missense_Mutation_p.R941Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	941	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAAAGAGGCCGGGTGAAGTAC	0.542													A	109639415	G	A	109639415	3	1	150	1	0	0	0	0	1	0	0	0	107	1116	39	2	2892	2	ACACB	12	109639415	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	427355	109639415	24212480	78	10127											
CUX2	23316	broad.mit.edu	37	12	111772383	111772383	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:111772383C>T	uc001tsa.2	+	18	3219	c.3065C>T	c.(3064-3066)tCg>tTg	p.S1022L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1022						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGCTCCTCGTTGAGCGGG	0.647													T	111772383	C	T	111772383	3	4	150	1	0	0	0	0	1	0	0	0	4065	893	31	2	3139	2	CUX2	12	111772383	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	2132968	111772383	22079512	79	10128											
PITPNM2	57605	broad.mit.edu	37	12	123481392	123481393	+	Frame_Shift_Ins	INS	-	-	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:123481392_123481393insC	uc001uej.1	-	10	1736_1737	c.1537_1538insG	c.(1537-1539)gccfs	p.A513fs	PITPNM2_uc001uek.1_Frame_Shift_Ins_p.A513fs	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	513					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAGGGGGAGGGCAGCCAGGGGA	0.639													C	123481393	-	C	123481392	7	5	150	1	0	1	1	0	0	0	0	0	11951	1203	42	0	2571	0	PITPNM2	12	123481392	Frame_Shift_Ins	INS	-	TCGA-16-1045-01B-01W-0611-08	11709009	123481392	10370503	80	10129											
DNAH10	196385	broad.mit.edu	37	12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:124333280G>A	uc001uft.4	+	32	5624	c.5599G>A	c.(5599-5601)Gtg>Atg	p.V1867M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1867	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443													A	124333280	G	A	124333280	3	1	150	1	0	0	0	0	1	0	0	0	4598	1145	40	1	5729	1	DNAH10	12	124333280	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	851888	124333280	9518615	81	10130											
RIMBP2	23504	broad.mit.edu	37	12	130935764	130935764	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:130935764G>A	uc001uil.2	-	4	645	c.429C>T	c.(427-429)agC>agT	p.S143S	RIMBP2_uc001uim.3_Silent_p.S51S	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	143						cell junction|synapse		p.S143S(2)|p.G142S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCATCTTGCGCTACCGGATC	0.637													A	130935764	G	A	130935764	2	1	150	1	0	0	0	0	0	0	0	1	13363	1078	38	1		1	RIMBP2	12	130935764	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	6602484	130935764	2916131	82	10131											
GPR133	283383	broad.mit.edu	37	12	131620612	131620612	+	Silent	SNP	G	G	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:131620612G>C	uc010tbm.2	+	22	2953	c.2394G>C	c.(2392-2394)ctG>ctC	p.L798L	GPR133_uc001uit.4_Silent_p.L766L|GPR133_uc009zyo.3_Silent_p.L48L|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	766					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCGTGCTGCTGCCCATCCTGG	0.592													C	131620612	G	C	131620612	2	2	150	1	0	0	0	0	0	0	0	1	6643	1306	46	5		5	GPR133	12	131620612	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	684848	131620612	2231283	83	10132											
ZNF140	7699	broad.mit.edu	37	12	133682985	133682985	+	Silent	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:133682985A>G	uc001ulo.3	+	4	1792	c.1122A>G	c.(1120-1122)caA>caG	p.Q374Q	ZNF140_uc001ulp.3_Silent_p.Q271Q|ZNF140_uc010tbu.2_Silent_p.Q271Q	NM_003440	NP_003431	P52738	ZN140_HUMAN	Homo sapiens zinc finger protein 140 (ZNF140), mRNA.	374						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCCTTATTCAACATACGAAGA	0.408													G	133682985	A	G	133682985	2	3	150	1	0	0	0	0	0	0	0	1	17726	40	2	4		4	ZNF140	12	133682985	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08	2062373	133682985	168910	84	10133											
C15orf32	145858	broad.mit.edu	37	15	93015653	93015653	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr15:93015653T>C	uc002brc.1	+	0	747	c.275T>C	c.(274-276)gTg>gCg	p.V92A	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	92										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			agctcacgagtggATGGTTTG	0.413													C	93015653	T	C	93015653	3	2	150	1	0	0	0	0	1	0	0	0	1790	1696	59	4	277	4	C15orf32	15	93015653	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08		93015653	9515739	85	10134											
UNKL	64718	broad.mit.edu	37	16	1449391	1449391	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr16:1449391G>A	uc010brn.2	-	4	731	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	UNKL_uc002clq.3_Missense_Mutation_p.R240W	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN	Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.	240						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TGGAACCGCCGGGGGTTGCGC	0.701													A	1449391	G	A	1449391	3	1	150	1	0	0	0	0	1	0	0	0	16998	1115	39	2	838	2	UNKL	16	1449391	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		1449391	88905362	86	10135											
FBXO31	79791	broad.mit.edu	37	16	87368933	87368933	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr16:87368933G>A	uc002fjw.3	-	6	1017	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	FBXO31_uc010vot.2_Missense_Mutation_p.R153C|FBXO31_uc002fjv.3_Missense_Mutation_p.R217C	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	325					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.F324F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCCCTGGCACGCCGGCCGTGG	0.662													A	87368933	G	A	87368933	3	1	150	1	0	0	0	0	1	0	0	0	5741	1087	38	1	658	1	FBXO31	16	87368933	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	85919542	87368933	2985820	87	10136											
OR1G1	8390	broad.mit.edu	37	17	3029921	3029921	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:3029921T>C	uc002fvc.1	-	0	925	c.925A>G	c.(925-927)Aaa>Gaa	p.K309E		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GAATGAATTTTCCGAACCCAG	0.428													C	3029921	T	C	3029921	3	2	150	1	0	0	0	0	1	0	0	0	10957	1792	62	4	20	4	OR1G1	17	3029921	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08		3029921	78165289	88	10137											
SLC6A4	6532	broad.mit.edu	37	17	28545202	28545202	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:28545202T>G	uc002hey.4	-	4	1176	c.632A>C	c.(631-633)aAt>aCt	p.N211T		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	211					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GGAGAAGTAATTGGTGCAGTT	0.542													G	28545202	T	G	28545202	3	3	150	1	0	0	0	0	1	0	0	0	14686	1493	52	5	1304	5	SLC6A4	17	28545202	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	25515281	28545202	52650008	89	10138											
ZNHIT3	9326	broad.mit.edu	37	17	34851065	34851065	+	Splice_Site	SNP	A	A	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:34851065A>G	uc002hms.1	+	5	358	c.287_splice	c.e5-2	p.G96_splice	ZNHIT3_uc002hmt.1_Splice_Site|ZNHIT3_uc010cut.1_Intron	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.	96					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GTTAATTTTTAGGGGAATCTG	0.403													G	34851065	A	G	34851065	5	3	150	1	0	0	0	0	0	0	1	0	18205	434	15	4	303	4	ZNHIT3	17	34851065	Splice_Site	SNP	A	TCGA-16-1045-01B-01W-0611-08	6305863	34851065	46344145	90	10139											
TNS4	84951	broad.mit.edu	37	17	38652473	38652473	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:38652473C>T	uc010cxb.3	-	1	369	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	69					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.A69V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCTGTGGGGCTTGCTGGAGT	0.652													T	38652473	C	T	38652473	3	4	150	1	0	0	0	0	1	0	0	0	16342	797	28	3	1990	3	TNS4	17	38652473	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	3801408	38652473	42542737	91	10140											
MRC2	9902	broad.mit.edu	37	17	60758249	60758249	+	Silent	SNP	G	G	A	rs150592174		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:60758249G>A	uc002jad.3	+	16	2964	c.2562G>A	c.(2560-2562)acG>acA	p.T854T	MRC2_uc002jae.3_5'UTR|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	854	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCATCTGCACGTGGTTCCAGG	0.637													A	60758249	G	A	60758249	2	1	150	1	0	0	0	0	0	0	0	1	9758	1132	40	1		1	MRC2	17	60758249	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	22105776	60758249	20436961	92	10141											
ZNF521	25925	broad.mit.edu	37	18	22806841	22806841	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr18:22806841G>A	uc002kvk.2	-	3	1288	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.V347V|ZNF521_uc002kvl.2_Silent_p.V127V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	347					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			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)					AGCCCACCGTGACCAGGGAAG	0.542			T	PAX5	ALL								A	22806841	G	A	22806841	2	1	150	1	0	0	0	0	0	0	0	1	17962	1277	45	3		3	ZNF521	18	22806841	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		22806841	55270407	93	10142											
TMPRSS9	360200	broad.mit.edu	37	19	2421886	2421886	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:2421886C>G	uc010xgx.2	+	12	2087	c.2087C>G	c.(2086-2088)gCc>gGc	p.A696G		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	696	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGCGAGGAGGCCCCTGGCGTG	0.617													G	2421886	C	G	2421886	3	3	150	1	0	0	0	0	1	0	0	0	16250	739	26	5	2137	5	TMPRSS9	19	2421886	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		2421886	56707097	94	10143											
HOOK2	29911	broad.mit.edu	37	19	12876795	12876795	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:12876795G>A	uc002muy.2	-	15	1716	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	HOOK2_uc002muz.2_Silent_p.A515A	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	515	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCTCCACCTGGGCCCGCAGCT	0.672											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	12876795	G	A	12876795	2	1	150	1	0	0	0	0	0	0	0	1	7283	1219	43	3		3	HOOK2	19	12876795	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	10454909	12876795	46252188	95	10144											
RYR1	6261	broad.mit.edu	37	19	38954119	38954119	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:38954119C>T	uc002oit.3	+	20	2764	c.2634C>T	c.(2632-2634)caC>caT	p.H878H	RYR1_uc002oiu.3_Silent_p.H878H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	878	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			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)	AGAACATCCACGAGCTCTGGG	0.662													T	38954119	C	T	38954119	2	4	150	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	38954119	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	26077324	38954119	20174864	96	10145											
SLC6A16	28968	broad.mit.edu	37	19	49812323	49812323	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:49812323A>T	uc002pmz.3	-	6	1273	c.1039T>A	c.(1039-1041)Ttg>Atg	p.L347M	SLC6A16_uc002pna.3_Missense_Mutation_p.L347M|MIR4324_uc021uxj.1_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	347						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GTGTTAGACAAAACTTGACCC	0.478													T	49812323	A	T	49812323	3	4	150	1	0	0	0	0	1	0	0	0	14679	11	1	5	1195	5	SLC6A16	19	49812323	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	10858204	49812323	9316660	97	10146											
SIGLEC9	27180	broad.mit.edu	37	19	51630344	51630344	+	Missense_Mutation	SNP	G	G	A	rs149764192		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:51630344G>A	uc010yct.2	+	3	901	c.806G>A	c.(805-807)cGc>cAc	p.R269H	SIGLEC9_uc002pvu.3_Missense_Mutation_p.R269H	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	269	Ig-like C2-type 2.			R -> H (in Ref. 2; AAF87223).	cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			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)		CAGTCTCTGCGCCTGGTCTGT	0.562													A	51630344	G	A	51630344	3	1	150	1	0	0	0	0	1	0	0	0	14315	1087	38	1	820	1	SIGLEC9	19	51630344	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	1818021	51630344	7498639	98	10147											
ZNF581	51545	broad.mit.edu	37	19	56155985	56155985	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:56155985C>T	uc002qln.3	+	1	321	c.48C>T	c.(46-48)tcC>tcT	p.S16S	ZNF581_uc002qlq.3_Silent_p.S16S|ZNF581_uc021vcb.1_Silent_p.S16S|CCDC106_uc002qlr.3_5'Flank|CCDC106_uc021vcc.1_5'Flank|CCDC106_uc021vcd.1_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	Homo sapiens zinc finger protein 581 (ZNF581), mRNA.	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CATTTTCCTCCGTTGAGACCA	0.617													T	56155985	C	T	56155985	2	4	150	1	0	0	0	0	0	0	0	1	18010	639	23	2		2	ZNF581	19	56155985	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	4525641	56155985	2972998	99	10148											
C20orf194	25943	broad.mit.edu	37	20	3274853	3274853	+	Missense_Mutation	SNP	G	G	A	rs145634255	by1000genomes	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:3274853G>A	uc002wii.2	-	24	2221	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	C20orf194_uc002wij.3_Missense_Mutation_p.R463W|C20orf194_uc002wik.2_Missense_Mutation_p.R398W	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	724										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGATGGGTCCGCATCACAGGC	0.468													A	3274853	G	A	3274853	3	1	150	1	0	0	0	0	1	0	0	0	2099	1086	38	1	1415	1	C20orf194	20	3274853	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		3274853	59750667	100	10149											
SEC23B	10483	broad.mit.edu	37	20	18534935	18534935	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:18534935C>A	uc002wra.2	+	17	2510	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	SEC23B_uc010zsb.2_Missense_Mutation_p.F665L|SEC23B_uc002wrb.2_Missense_Mutation_p.F683L|SEC23B_uc002wqz.2_Missense_Mutation_p.F683L|SEC23B_uc002wrc.2_Missense_Mutation_p.F683L	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	683					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATGAAAACTTCAAGCACCTTC	0.493													A	18534935	C	A	18534935	3	1	150	1	0	0	0	0	1	0	0	0	13992	825	29	5	2115	5	SEC23B	20	18534935	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	15260082	18534935	44490585	101	10150											
BPI	671	broad.mit.edu	37	20	36932754	36932754	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:36932754C>T	uc002xib.2	+	1	204	c.142_splice	c.e1+1	p.A48_splice		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	48					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCTGGACTACGGTAACTGGA	0.607													T	36932754	C	T	36932754	2	4	150	1	0	0	0	0	0	0	0	1	1490	550	19	1		1	BPI	20	36932754	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	18397819	36932754	26092766	102	10151											
SLC9A8	23315	broad.mit.edu	37	20	48503378	48503378	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:48503378C>T	uc002xuv.1	+	14	1791	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SLC9A8_uc010zym.1_Silent_p.F227F|SLC9A8_uc010gid.3_Silent_p.F151F	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	527						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.F527F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627													T	48503378	C	T	48503378	2	4	150	1	0	0	0	0	0	0	0	1	14720	883	31	2		2	SLC9A8	20	48503378	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	11570624	48503378	14522142	103	10152											
BRWD1	54014	broad.mit.edu	37	21	40571510	40571510	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr21:40571510G>T	uc002yxk.2	-	39	5127	c.4832C>A	c.(4831-4833)tCa>tAa	p.S1611*	BRWD1_uc010goc.1_Nonsense_Mutation_p.S254*|BRWD1_uc021wjf.1_Nonsense_Mutation_p.S1611*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				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)				AGTCTCCAATGAATTGTTATC	0.378											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	40571510	G	T	40571510	4	4	150	1	0	0	0	0	0	1	0	0	1525	1294	45	5	2381	5	BRWD1	21	40571510	Nonsense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		40571510	7558385	104	10153											
CABIN1	23523	broad.mit.edu	37	22	24466765	24466765	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr22:24466765G>A	uc002zzi.1	+	16	2374	c.2247G>A	c.(2245-2247)cgG>cgA	p.R749R	CABIN1_uc021wnc.1_Silent_p.R699R|CABIN1_uc002zzj.1_Silent_p.R699R|CABIN1_uc002zzl.2_Silent_p.R749R	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	749					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCTTGCTCCGGCTGAAGGACT	0.562													A	24466765	G	A	24466765	2	1	150	1	0	0	0	0	0	0	0	1	2528	1190	42	3		3	CABIN1	22	24466765	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		24466765	26837801	105	10154											
RANGAP1	5905	broad.mit.edu	37	22	41654011	41654011	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr22:41654011G>A	uc003azs.3	-	5	2185	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	RANGAP1_uc003azt.3_Missense_Mutation_p.R239W|RANGAP1_uc003azu.3_Missense_Mutation_p.R239W|RANGAP1_uc011aoz.2_Missense_Mutation_p.R184W	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	239					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATGACCCGCAGCAGGGGG	0.627													A	41654011	G	A	41654011	3	1	150	1	0	0	0	0	1	0	0	0	13033	1086	38	1	1088	1	RANGAP1	22	41654011	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	17187246	41654011	9650555	106	10155											
OFD1	8481	broad.mit.edu	37	X	13786260	13786260	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:13786260G>C	uc004cvp.4	+	20	3204	c.2845G>C	c.(2845-2847)Gac>Cac	p.D949H	OFD1_uc004cvr.4_Missense_Mutation_p.D479H|OFD1_uc011mil.2_Missense_Mutation_p.D516H|OFD1_uc004cvq.4_Missense_Mutation_p.D772H|OFD1_uc010nen.3_Missense_Mutation_p.D947H|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.D908H|OFD1_uc004cvv.4_Missense_Mutation_p.D907H	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	949	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAATAAAAGACAAATCTGC	0.358													C	13786260	G	C	13786260	3	2	150	1	0	0	0	0	1	0	0	0	10838	942	33	5	2927	5	OFD1	23	13786260	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		13786260	141484300	107	10156											
HUWE1	10075	broad.mit.edu	37	X	53612010	53612010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:53612010G>A	uc004dsp.3	-	39	5365	c.4963C>T	c.(4963-4965)Cga>Tga	p.R1655*	HUWE1_uc004dsn.3_Nonsense_Mutation_p.R480*	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1655	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TATCTTCTTCGGCCTGCAGTG	0.502													A	53612010	G	A	53612010	4	1	150	1	0	0	0	0	0	1	0	0	7461	1124	39	2	8341	2	HUWE1	23	53612010	Nonsense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	39825750	53612010	101658550	108	10157											
OGT	8473	broad.mit.edu	37	X	70777507	70777507	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:70777507C>A	uc004eaa.2	+	11	1825	c.1587C>A	c.(1585-1587)aaC>aaA	p.N529K	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.N519K|OGT_uc004eac.3_Missense_Mutation_p.N390K|OGT_uc004ead.3_Missense_Mutation_p.N148K	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	529					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.L528P(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GGCACGGCAACCTGTGCTTAG	0.368													A	70777507	C	A	70777507	3	1	150	1	0	0	0	0	1	0	0	0	10847	506	18	5	1633	5	OGT	23	70777507	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	17165497	70777507	84493053	109	10158											
DRP2	1821	broad.mit.edu	37	X	100511129	100511129	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:100511129C>T	uc004egz.2	+	20	2638	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	DRP2_uc011mrh.1_Missense_Mutation_p.R679W	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	757					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTACCTGCTGCGGCACTCCAG	0.582													T	100511129	C	T	100511129	3	4	150	1	0	0	0	0	1	0	0	0	4764	759	27	1	2343	1	DRP2	23	100511129	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	29733622	100511129	54759431	110	10159											
COL4A5	1287	broad.mit.edu	37	X	107939578	107939578	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:107939578C>T	uc022ccg.1	+	52	5248	c.5046C>T	c.(5044-5046)agC>agT	p.S1682S	COL4A5_uc004enz.1_Silent_p.S1676S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1676	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CACGAATTAGCCGATGTCAAG	0.348									Alport syndrome with Diffuse Leiomyomatosis				T	107939578	C	T	107939578	2	4	150	1	0	0	0	0	0	0	0	1	3694	738	26	3		3	COL4A5	23	107939578	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	7428449	107939578	47330982	111	10160											
LONRF3	79836	broad.mit.edu	37	X	118145848	118145848	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:118145848T>A	uc004eqw.3	+	7	1754	c.1723T>A	c.(1723-1725)Ttt>Att	p.F575I	LONRF3_uc004eqx.3_Missense_Mutation_p.F534I|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.F319I	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	575	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGCACATCTTTGAGCCTTG	0.478													A	118145848	T	A	118145848	3	1	150	1	0	0	0	0	1	0	0	0	8896	1609	56	5	1753	5	LONRF3	23	118145848	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	10206270	118145848	37124712	112	10161											
FAM70A	55026	broad.mit.edu	37	X	119410766	119410766	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:119410766C>T	uc004eso.4	-	7	948	c.721G>A	c.(721-723)Gct>Act	p.A241T	FAM70A_uc004esp.4_Missense_Mutation_p.A217T|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	241						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CCAAGGACAGCGGCAGTGATG	0.527													T	119410766	C	T	119410766	3	4	150	1	0	0	0	0	1	0	0	0	5605	768	27	1	340	1	FAM70A	23	119410766	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	1264918	119410766	35859794	113	10162											
GLUD2	2747	broad.mit.edu	37	X	120181970	120181970	+	Silent	SNP	G	G	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:120181970G>A	uc004eto.3	+	0	509	c.432G>A	c.(430-432)acG>acA	p.T144T		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	144					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.R143C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCACCGCACGCCCTGCAAGG	0.572													A	120181970	G	A	120181970	2	1	150	1	0	0	0	0	0	0	0	1	6477	1074	38	1		1	GLUD2	23	120181970	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	771204	120181970	35088590	114	10163											
OCRL	4952	broad.mit.edu	37	X	128701326	128701326	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:128701326C>A	uc004euq.3	+	13	1617	c.1452C>A	c.(1450-1452)gaC>gaA	p.D484E	OCRL_uc004eur.3_Missense_Mutation_p.D484E	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	484					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTAAAACAGACCGGTGGGATT	0.393													A	128701326	C	A	128701326	3	1	150	1	0	0	0	0	1	0	0	0	10823	506	18	5	1506	5	OCRL	23	128701326	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	8519356	128701326	26569234	115	10164											
XPNPEP2	7512	broad.mit.edu	37	X	128887224	128887224	+	Silent	SNP	C	C	T			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:128887224C>T	uc004eut.1	+	11	1351	c.1107_splice	c.e11+1	p.H369_splice		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	369					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCCAGCCACGTAAGTCCAC	0.537													T	128887224	C	T	128887224	2	4	150	1	0	0	0	0	0	0	0	1	17440	550	19	1		1	XPNPEP2	23	128887224	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	185898	128887224	26383336	116	10165											
SAGE1	55511	broad.mit.edu	37	X	134989538	134989538	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:134989538T>G	uc004ezh.3	+	8	1111	c.944T>G	c.(943-945)gTa>gGa	p.V315G	SAGE1_uc010nry.1_Missense_Mutation_p.V284G|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	315										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCTAATAACGTATTGTCAACT	0.408													G	134989538	T	G	134989538	3	3	150	1	0	0	0	0	1	0	0	0	13809	1638	57	5	974	5	SAGE1	23	134989538	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	6102314	134989538	20281022	117	10166											
KIAA1751	85452	broad.mit.edu	37	1	1902133	1902133	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:1902133G>A	uc001aim.1	-	9	1167	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	KIAA1751_uc009vkz.1_Silent_p.H337H	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	337										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCCGGCGCTGGTGGACAAGGT	0.677													A	1902133	G	A	1902133	2	1	151	1	0	0	0	0	0	0	0	1	8256	1252	44	3		3	KIAA1751	1	1902133	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		1902133	247348488	1	10167											
CHD5	26038	broad.mit.edu	37	1	6195434	6195434	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:6195434G>A	uc001amb.2	-	17	2837	c.2726C>T	c.(2725-2727)gCt>gTt	p.A909V	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	909					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAGATGTCAGCAAACTCCTC	0.602													A	6195434	G	A	6195434	3	1	151	1	0	0	0	0	1	0	0	0	3328	971	34	3	3234	3	CHD5	1	6195434	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4293301	6195434	243055187	2	10168											
ZMYM4	9202	broad.mit.edu	37	1	35836122	35836122	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:35836122G>T	uc001byt.3	+	6	1155	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W	ZMYM4_uc009vuu.3_Missense_Mutation_p.G327W|ZMYM4_uc001byu.3_Missense_Mutation_p.G35W|ZMYM4_uc009vuv.3_Missense_Mutation_p.G98W|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	359					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGAGGAAAGGGTCTACTCA	0.483													T	35836122	G	T	35836122	3	4	151	1	0	0	0	0	1	0	0	0	17699	1000	35	5	1101	5	ZMYM4	1	35836122	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	29640688	35836122	213414499	3	10169											
EPS15	2060	broad.mit.edu	37	1	51869155	51869155	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:51869155T>C	uc001csq.1	-	16	1819	c.1727A>G	c.(1726-1728)gAg>gGg	p.E576G	EPS15_uc009vyz.1_Missense_Mutation_p.E442G|EPS15_uc001csp.3_Missense_Mutation_p.E262G	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	576					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGTAGTCACCTCATTTTCATC	0.338			T	MLL	ALL								C	51869155	T	C	51869155	3	2	151	1	0	0	0	0	1	0	0	0	5192	1551	54	4	999	4	EPS15	1	51869155	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	16033033	51869155	197381466	4	10170											
ECHDC2	55268	broad.mit.edu	37	1	53370462	53370462	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:53370462C>T	uc001cup.4	-	6	804	c.558G>A	c.(556-558)gcG>gcA	p.A186A	ECHDC2_uc001cun.3_Silent_p.A109A|ECHDC2_uc001cuo.4_Silent_p.A155A|ECHDC2_uc021onl.1_Silent_p.A155A|ECHDC2_uc010onk.2_Silent_p.A140A	NM_001198961	NP_001185890	Q86YB7	ECHD2_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA.	186					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TGAGCTCCTTCGCCAGGGCCA	0.642													T	53370462	C	T	53370462	2	4	151	1	0	0	0	0	0	0	0	1	4894	871	31	2		2	ECHDC2	1	53370462	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	1501307	53370462	195880159	5	10171											
AMY2B	280	broad.mit.edu	37	1	104115707	104115710	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:104115707_104115710delTAAT	uc010ouo.2	+	14	2042_2045	c.338_341delTAAT	c.(337-342)gtaattfs	p.V113fs	AMY2B_uc001duq.3_Frame_Shift_Del_p.V113fs|AMY2B_uc001dur.3_Frame_Shift_Del_p.V113fs|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	113					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTGGATGCTGTAATTAATCATATG	0.387													-	104115710	TAAT	-	104115707	7	5	151	1	0	1	0	1	0	0	0	0	595	1638	57	0	348	0	AMY2B	1	104115707	Frame_Shift_Del	DEL	TAAT	TCGA-16-1048-01B-01D-1353-08	50745245	104115707	145134914	6	10172											
TXNIP	10628	broad.mit.edu	37	1	145439050	145439050	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:145439050C>A	uc001enn.4	+	0	589	c.248C>A	c.(247-249)aCa>aAa	p.T83K	TXNIP_uc010oys.2_5'Flank	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	83					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACCAGCCAACAGGTAAGCGG	0.463													A	145439050	C	A	145439050	3	1	151	1	0	0	0	0	1	0	0	0	16800	478	17	5	250	5	TXNIP	1	145439050	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	41323343	145439050	103811571	7	10173											
OR6K2	81448	broad.mit.edu	37	1	158669789	158669789	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:158669789G>A	uc001fsu.1	-	0	654	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACCATCGTAGGACATGAAGA	0.478													A	158669789	G	A	158669789	2	1	151	1	0	0	0	0	0	0	0	1	11202	987	35	3		3	OR6K2	1	158669789	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	13230739	158669789	90580832	8	10174											
CNTN2	6900	broad.mit.edu	37	1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:205042816C>T	uc001hbr.3	+	22	3315	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C	CNTN2_uc001hbs.3_Missense_Mutation_p.R804C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	1016					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGCAGTCCGCCCAGCACC	0.607													T	205042816	C	T	205042816	3	4	151	1	0	0	0	0	1	0	0	0	3641	652	23	2	3132	2	CNTN2	1	205042816	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	46373027	205042816	44207805	9	10175											
EHD3	30845	broad.mit.edu	37	2	31483729	31483729	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:31483729C>T	uc002rnu.3	+	3	1464	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	286					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.P286P(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)					CCAGAGTCTGCCCCGAAATGC	0.622													T	31483729	C	T	31483729	3	4	151	1	0	0	0	0	1	0	0	0	4979	739	26	3	870	3	EHD3	2	31483729	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		31483729	211715644	10	10176											
BIRC6	57448	broad.mit.edu	37	2	32727897	32727897	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:32727897A>T	uc010ezu.3	+	47	9377	c.9243A>T	c.(9241-9243)ttA>ttT	p.L3081F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3081					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGAGCCATTATTGTGGTTCA	0.313													T	32727897	A	T	32727897	3	4	151	1	0	0	0	0	1	0	0	0	1438	446	16	5	9433	5	BIRC6	2	32727897	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	1244168	32727897	210471476	11	10177											
SLC4A5	57835	broad.mit.edu	37	2	74477637	74477637	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:74477637C>T	uc002sko.1	-	11	1488	c.1486G>A	c.(1486-1488)Ggt>Agt	p.G496S	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G496S|SLC4A5_uc010ffc.1_Missense_Mutation_p.G496S|SLC4A5_uc002skp.1_Missense_Mutation_p.G432S|SLC4A5_uc002sks.1_Missense_Mutation_p.G496S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	496	Gly-rich.					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAGGCCACCGAAGAACCTG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74477637	C	T	74477637	3	4	151	1	0	0	0	0	1	0	0	0	14657	652	23	2	1987	2	SLC4A5	2	74477637	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	41749740	74477637	168721736	12	10178											
IL18RAP	8807	broad.mit.edu	37	2	103040791	103040791	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:103040791C>T	uc002tbx.3	+	4	980	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	IL18RAP_uc010fiz.3_Missense_Mutation_p.L24F	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	166	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						gcaagacctacttcttgggag	0.468													T	103040791	C	T	103040791	3	4	151	1	0	0	0	0	1	0	0	0	7648	565	20	3	506	3	IL18RAP	2	103040791	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	28563154	103040791	140158582	13	10179											
TMEM87B	84910	broad.mit.edu	37	2	112865416	112865416	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:112865416G>A	uc002thm.2	+	17	1946	c.1577_splice	c.e17+1	p.V526_splice		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	526						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATTCACAGATGTGTAAGTTAT	0.343													A	112865416	G	A	112865416	3	1	151	1	0	0	0	0	1	0	0	0	16208	1391	48	3	1642	3	TMEM87B	2	112865416	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	9824625	112865416	130333957	14	10180											
GCG	2641	broad.mit.edu	37	2	163005628	163005628	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:163005628G>A	uc002ucc.3	-	1	317	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	21					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TGAAGGGAACGTTGCCAGCTG	0.413													A	163005628	G	A	163005628	3	1	151	1	0	0	0	0	1	0	0	0	6290	1145	40	1	501	1	GCG	2	163005628	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	50140212	163005628	80193745	15	10181											
MYO3B	140469	broad.mit.edu	37	2	171243715	171243715	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:171243715T>C	uc002ufy.3	+	13	1617	c.1474T>C	c.(1474-1476)Ttt>Ctt	p.F492L	MYO3B_uc002ufv.3_Missense_Mutation_p.F479L|MYO3B_uc010fqb.1_Missense_Mutation_p.F492L|MYO3B_uc002ufz.3_Missense_Mutation_p.F492L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	492	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCGAGCCGTTTTGGAAAATA	0.433													C	171243715	T	C	171243715	3	2	151	1	0	0	0	0	1	0	0	0	10077	1841	64	4	1528	4	MYO3B	2	171243715	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	8238087	171243715	71955658	16	10182											
ITGA4	3676	broad.mit.edu	37	2	182358131	182358131	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:182358131G>A	uc002unu.3	+	10	1996	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	411					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATGGGATCTCGTCAACCTTCT	0.368													A	182358131	G	A	182358131	2	1	151	1	0	0	0	0	0	0	0	1	7878	1132	40	1		1	ITGA4	2	182358131	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	11114416	182358131	60841242	17	10183											
MYO1B	4430	broad.mit.edu	37	2	192141643	192141643	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:192141643A>T	uc010fsg.2	+	1	277	c.22A>T	c.(22-24)Acc>Tcc	p.T8S	MYO1B_uc002usq.2_Missense_Mutation_p.T8S|MYO1B_uc002usr.2_Missense_Mutation_p.T8S|MYO1B_uc002uss.1_Missense_Mutation_p.T8S	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	8						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			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)			GGAGGTGAAAACCTCACTTCT	0.433													T	192141643	A	T	192141643	3	4	151	1	0	0	0	0	1	0	0	0	10069	43	2	5	24	5	MYO1B	2	192141643	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	9783512	192141643	51057730	18	10184											
SLC19A3	80704	broad.mit.edu	37	2	228560683	228560683	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:228560683T>C	uc002vpi.3	-	3	1183	c.1094A>G	c.(1093-1095)tAc>tGc	p.Y365C	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.Y361C	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	365					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.Y365H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATTGGCTGTGTAATGCATGAG	0.443													C	228560683	T	C	228560683	3	2	151	1	0	0	0	0	1	0	0	0	14430	1638	57	4	408	4	SLC19A3	2	228560683	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	36419040	228560683	14638690	19	10185											
CHRND	1144	broad.mit.edu	37	2	233394760	233394760	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:233394760G>A	uc002vsw.3	+	6	735	c.731G>A	c.(730-732)cGc>cAc	p.R244H	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R229H|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	244					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.R243H(2)		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)		ATCATCCGCCGCAAGCCCCTC	0.607													A	233394760	G	A	233394760	3	1	151	1	0	0	0	0	1	0	0	0	3394	1087	38	1	757	1	CHRND	2	233394760	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4834077	233394760	9804613	20	10186											
SNED1	25992	broad.mit.edu	37	2	242004746	242004746	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:242004746G>A	uc002wah.1	+	20	2745	c.2745G>A	c.(2743-2745)gaG>gaA	p.E915E	SNED1_uc002wai.1_Silent_p.E150E|SNED1_uc002waj.1_Silent_p.E2E|SNED1_uc002wak.3_Silent_p.E2E	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	915	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCAAGATGGAGAGAGTGGAGG	0.607													A	242004746	G	A	242004746	2	1	151	1	0	0	0	0	0	0	0	1	14845	933	33	3		3	SNED1	2	242004746	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	8609986	242004746	1194627	21	10187											
SLC4A7	9497	broad.mit.edu	37	3	27478926	27478926	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:27478926T>G	uc011aww.2	-	3	602	c.381A>C	c.(379-381)gaA>gaC	p.E127D	SLC4A7_uc011awx.2_Missense_Mutation_p.E127D|SLC4A7_uc021wun.1_Missense_Mutation_p.E127D|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.E123D|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.E123D|SLC4A7_uc011axb.2_Missense_Mutation_p.E127D|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.E123D|SLC4A7_uc010hfm.2_Missense_Mutation_p.E123D|SLC4A7_uc003cdv.3_Missense_Mutation_p.E118D|SLC4A7_uc003cdw.3_Missense_Mutation_p.E118D	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	118						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGTAACACAGTTCATCCATTT	0.373													G	27478926	T	G	27478926	3	3	151	1	0	0	0	0	1	0	0	0	14658	1722	60	5	3378	5	SLC4A7	3	27478926	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08		27478926	170543504	22	10188											
COL6A5	256076	broad.mit.edu	37	3	130159541	130159541	+	Missense_Mutation	SNP	G	G	A	rs146634521	by1000genomes	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:130159541G>A	uc010htj.1	+	34	6853	c.6359G>A	c.(6358-6360)cGt>cAt	p.R2120H	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R159H|COL6A5_uc010htk.1_Missense_Mutation_p.R159H	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2120	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGCTCTACACGTAAGGATGAC	0.408													A	130159541	G	A	130159541	3	1	151	1	0	0	0	0	1	0	0	0	3702	1145	40	1	6493	1	COL6A5	3	130159541	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	102680615	130159541	67862889	23	10189											
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:178917478G>A	uc003fjk.3	+	3	510	c.353_splice	c.e3-1	p.G118_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178917478	G	A	178917478	3	1	151	1	0	0	0	0	1	0	0	0	11913	1275	44	3	359	3	PIK3CA	3	178917478	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	48757937	178917478	19104952	24	10190											
GABRA4	2557	broad.mit.edu	37	4	46930475	46930475	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:46930475C>T	uc003gxg.3	-	8	2415	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M	GABRA4_uc021xnz.1_Missense_Mutation_p.V459M|GABRA4_uc021xoa.1_Missense_Mutation_p.V408M	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	478					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATCCAAACACGTGACGAGTA	0.488													T	46930475	C	T	46930475	3	4	151	1	0	0	0	0	1	0	0	0	6163	536	19	1	236	1	GABRA4	4	46930475	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		46930475	144223801	25	10191											
SEC24B	10427	broad.mit.edu	37	4	110384778	110384778	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:110384778G>A	uc003hzk.3	+	1	910	c.855G>A	c.(853-855)gcG>gcA	p.A285A	SEC24B_uc003hzl.3_Silent_p.A285A|SEC24B_uc011cfp.2_Silent_p.A316A|SEC24B_uc011cfq.2_Silent_p.A285A|SEC24B_uc011cfr.2_Silent_p.A285A	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	285					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGGCTGTAGCGAACAACAACC	0.413													A	110384778	G	A	110384778	2	1	151	1	0	0	0	0	0	0	0	1	13995	1045	37	2		2	SEC24B	4	110384778	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	63454303	110384778	80769498	26	10192											
NAF1	92345	broad.mit.edu	37	4	164050096	164050096	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:164050096G>C	uc003iqj.3	-	7	1632	c.1438C>G	c.(1438-1440)Cca>Gca	p.P480A	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	480	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAgagggtggaggaggcagt	0.458													C	164050096	G	C	164050096	3	2	151	1	0	0	0	0	1	0	0	0	10140	1174	41	5	191	5	NAF1	4	164050096	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	53665318	164050096	27104180	27	10193											
PALLD	23022	broad.mit.edu	37	4	169433085	169433085	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:169433085G>A	uc011cjx.2	+	1	641	c.430G>A	c.(430-432)Ggt>Agt	p.G144S	PALLD_uc003iru.3_Missense_Mutation_p.G144S	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	144					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.G144R(2)		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)		TGAAAAGCGTGGTGCAAAAAC	0.512									Pancreatic Cancer, Familial Clustering of				A	169433085	G	A	169433085	3	1	151	1	0	0	0	0	1	0	0	0	11407	1348	47	3	432	3	PALLD	4	169433085	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	5382989	169433085	21721191	28	10194											
LRP2BP	55805	broad.mit.edu	37	4	186299262	186299262	+	Missense_Mutation	SNP	A	A	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:186299262A>C	uc003ixj.2	-	0	891	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V	LRP2BP_uc003ixk.2_5'UTR|LRP2BP_uc021xvi.1_Non-coding_Transcript	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	Homo sapiens LRP2 binding protein (LRP2BP), mRNA.	27						cytoplasm	protein binding	p.F27F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CACTGGAAAAATTTTTGGTTT	0.378													C	186299262	A	C	186299262	3	2	151	1	0	0	0	0	1	0	0	0	8957	101	4	5	996	5	LRP2BP	4	186299262	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	16866177	186299262	4855014	29	10195											
MARVELD2	153562	broad.mit.edu	37	5	68737366	68737366	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:68737366C>T	uc003jwq.3	+	6	1636	c.1562C>T	c.(1561-1563)aCa>aTa	p.T521I	MARVELD2_uc010ixf.3_Missense_Mutation_p.T509I|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	521					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAGGATCCTACATTTCTGGAA	0.318													T	68737366	C	T	68737366	3	4	151	1	0	0	0	0	1	0	0	0	9318	478	17	3	1584	3	MARVELD2	5	68737366	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		68737366	112177894	30	10196											
FBN2	2201	broad.mit.edu	37	5	127728993	127728993	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:127728993G>T	uc003kuu.3	-	9	1739	c.1300C>A	c.(1300-1302)Cct>Act	p.P434T	FBN2_uc003kuv.2_Missense_Mutation_p.P401T	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	434					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGCCTCCAGGTCTGGAACCA	0.532													T	127728993	G	T	127728993	3	4	151	1	0	0	0	0	1	0	0	0	5703	1261	44	5	7662	5	FBN2	5	127728993	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	58991627	127728993	53186267	31	10197											
PDLIM4	8572	broad.mit.edu	37	5	131607724	131607724	+	Silent	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:131607724C>G	uc003kwo.3	+	5	1196	c.1119C>G	c.(1117-1119)acC>acG	p.T373T	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Silent_p.T265T|PDLIM4_uc003kwp.3_Missense_Mutation_p.P226R	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	265							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGGGGCACCATCGTCAAGG	0.617													G	131607724	C	G	131607724	2	3	151	1	0	0	0	0	0	0	0	1	11682	594	21	5		5	PDLIM4	5	131607724	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	3878731	131607724	49307536	32	10198											
PCDHGC5	9708	broad.mit.edu	37	5	140774290	140774290	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:140774290C>T	uc003lkd.2	+	0	2808	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.A637V|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	639	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A637E(1)		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)			GACAGAGATGCGCTCAAGCAG	0.682													T	140774290	C	T	140774290	3	4	151	1	0	0	0	0	1	0	0	0	11571	768	27	1		1	PCDHGC5	5	140774290	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	9166566	140774290	40140970	33	10199											
DSP	1832	broad.mit.edu	37	6	7580369	7580369	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:7580369G>A	uc003mxp.1	+	22	4225	c.3946G>A	c.(3946-3948)Gct>Act	p.A1316T	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.A1316T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1316	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTGGAGGAGGCTGCCAAGAC	0.512													A	7580369	G	A	7580369	3	1	151	1	0	0	0	0	1	0	0	0	4781	1203	42	3	4036	3	DSP	6	7580369	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		7580369	163534698	34	10200											
COL11A2	1302	broad.mit.edu	37	6	33137189	33137189	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:33137189T>C	uc003ocx.1	-	50	3997	c.3769A>G	c.(3769-3771)Aca>Gca	p.T1257A	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.T1171A|COL11A2_uc003ocz.1_Missense_Mutation_p.T1150A	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1257	Triple-helical region.			T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 6; AAA52034).	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCATCGCCTGTGGGGCCTTTA	0.627													C	33137189	T	C	33137189	3	2	151	1	0	0	0	0	1	0	0	0	3668	1696	59	4	1505	4	COL11A2	6	33137189	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	25556820	33137189	137977878	35	10201											
KCNK17	89822	broad.mit.edu	37	6	39272395	39272395	+	Missense_Mutation	SNP	C	C	T	rs142227833		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:39272395C>T	uc003ooo.3	-	2	530	c.389G>A	c.(388-390)cGc>cAc	p.R130H	KCNK17_uc003oop.3_Missense_Mutation_p.R130H	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	130						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R130L(3)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCAGAAGAGGCGGGCAGCCAT	0.612													T	39272395	C	T	39272395	3	4	151	1	0	0	0	0	1	0	0	0	8064	768	27	1	753	1	KCNK17	6	39272395	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	6135206	39272395	131842672	36	10202											
PTK7	5754	broad.mit.edu	37	6	43109453	43109453	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:43109453C>T	uc011dve.1	+	10	1732	c.1690C>T	c.(1690-1692)Cat>Tat	p.H564Y	PTK7_uc003oub.1_Missense_Mutation_p.H556Y|PTK7_uc003ouc.1_Missense_Mutation_p.H556Y|PTK7_uc003oud.1_Missense_Mutation_p.H516Y|PTK7_uc003oue.1_Missense_Mutation_p.H426Y|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	556	Ig-like C2-type 6.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGGACCCTGCATTTTGCCCG	0.582													T	43109453	C	T	43109453	3	4	151	1	0	0	0	0	1	0	0	0	12765	710	25	3	1708	3	PTK7	6	43109453	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	3837058	43109453	128005614	37	10203											
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:54191661C>T	uc003pcj.2	+	3	717	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(2)|p.R191H(1)|p.R191L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373													T	54191661	C	T	54191661	3	4	151	1	0	0	0	0	1	0	0	0	15918	884	31	2	585	2	TINAG	6	54191661	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	11082208	54191661	116923406	38	10204											
TINAG	27283	broad.mit.edu	37	6	54254704	54254704	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:54254704C>T	uc003pcj.2	+	10	1558	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	471					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGCCAACTGACGAGTTCTGAT	0.403													T	54254704	C	T	54254704	3	4	151	1	0	0	0	0	1	0	0	0	15918	536	19	1	1454	1	TINAG	6	54254704	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	63043	54254704	116860363	39	10205											
RIMS1	22999	broad.mit.edu	37	6	72993805	72993805	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:72993805G>T	uc003pga.3	+	23	3615	c.3538G>T	c.(3538-3540)Gcc>Tcc	p.A1180S	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Missense_Mutation_p.A561S|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Missense_Mutation_p.A481S|RIMS1_uc011dyd.2_Missense_Mutation_p.A547S|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Missense_Mutation_p.A37S|RIMS1_uc011dyf.2_Missense_Mutation_p.A37S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1180					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAAGGCACTGCCTCTGATGC	0.398													T	72993805	G	T	72993805	3	4	151	1	0	0	0	0	1	0	0	0	13367	1319	46	5	3795	5	RIMS1	6	72993805	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	18739101	72993805	98121262	40	10206											
MAP3K7	6885	broad.mit.edu	37	6	91226312	91226312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:91226312C>A	uc003pnz.1	-	16	2034	c.1729G>T	c.(1729-1731)Gaa>Taa	p.E577*	MAP3K7_uc003pny.1_Nonsense_Mutation_p.E114*|MAP3K7_uc003pob.1_Nonsense_Mutation_p.E550*|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003poc.1_3'UTR	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	577					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTTTGTTTTCATCTAAAAGC	0.408													A	91226312	C	A	91226312	4	1	151	1	0	0	0	0	0	1	0	0	9255	835	29	5	95	5	MAP3K7	6	91226312	Nonsense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	18232507	91226312	79888755	41	10207											
LAMA4	3910	broad.mit.edu	37	6	112496666	112496666	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:112496666C>A	uc003pvu.2	-	10	1515	c.1206G>T	c.(1204-1206)atG>atT	p.M402I	LAMA4_uc003pvv.2_Missense_Mutation_p.M395I|LAMA4_uc003pvt.2_Missense_Mutation_p.M395I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	402	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATAATAGAGCATCTTGTTGT	0.483													A	112496666	C	A	112496666	3	1	151	1	0	0	0	0	1	0	0	0	8608	710	25	5	4381	5	LAMA4	6	112496666	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	21270354	112496666	58618401	42	10208											
DSE	29940	broad.mit.edu	37	6	116757126	116757126	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:116757126G>A	uc011ebg.2	+	5	1651	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	DSE_uc003pws.3_Missense_Mutation_p.V499M|DSE_uc003pwt.3_Missense_Mutation_p.V499M|DSE_uc003pwu.3_Missense_Mutation_p.V166M	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	499					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTCTCCCTGGGTGGGTCAGGT	0.483													A	116757126	G	A	116757126	3	1	151	1	0	0	0	0	1	0	0	0	4774	1261	44	3	1513	3	DSE	6	116757126	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4260460	116757126	54357941	43	10209											
COL28A1	340267	broad.mit.edu	37	7	7412801	7412801	+	Silent	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:7412801T>C	uc003src.1	-	31	2853	c.2736A>G	c.(2734-2736)aaA>aaG	p.K912K	COL28A1_uc011jxe.1_Silent_p.K595K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	912	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCAGTTTCTCTTTATCACGAG	0.443													C	7412801	T	C	7412801	2	2	151	1	0	0	0	0	0	0	0	1	3686	1606	56	4		4	COL28A1	7	7412801	Silent	SNP	T	TCGA-16-1048-01B-01D-1353-08		7412801	151725862	44	10210											
C7orf57	136288	broad.mit.edu	37	7	48081010	48081010	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:48081010C>G	uc003toh.4	+	2	347	c.135C>G	c.(133-135)agC>agG	p.S45R	C7orf57_uc003toi.4_5'UTR	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	45										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGGTCTCAGCAATTTGGGAG	0.537													G	48081010	C	G	48081010	3	3	151	1	0	0	0	0	1	0	0	0	2404	709	25	5	141	5	C7orf57	7	48081010	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	40668209	48081010	111057653	45	10211											
EGFR	1956	broad.mit.edu	37	7	55221716	55221716	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:55221716T>A	uc003tqk.3	+	6	1006	c.760T>A	c.(760-762)Ttc>Atc	p.F254I	EGFR_uc003tqh.3_Missense_Mutation_p.F254I|EGFR_uc003tqi.3_Missense_Mutation_p.F254I|EGFR_uc003tqj.3_Missense_Mutation_p.F254I|EGFR_uc022adm.1_Missense_Mutation_p.F254I|EGFR_uc010kzg.2_Missense_Mutation_p.F209I|EGFR_uc022adn.1_Missense_Mutation_p.F209I|EGFR_uc011kco.2_Missense_Mutation_p.F201I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	254					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.F254F(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGCCGCAAATTCCGAGACGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221716	T	A	55221716	3	1	151	1	0	0	0	0	1	0	0	0	4967	1493	52	5	786	5	EGFR	7	55221716	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	7140706	55221716	103916947	46	10212											
WBSCR17	64409	broad.mit.edu	37	7	71135089	71135089	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:71135089G>A	uc003tvy.3	+	7	1399	c.1399G>A	c.(1399-1401)Ggg>Agg	p.G467R	WBSCR17_uc003tvz.3_Missense_Mutation_p.G166R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	467	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGTTGCTTACGGGGAGGTAAT	0.413													A	71135089	G	A	71135089	3	1	151	1	0	0	0	0	1	0	0	0	17261	1116	39	2	1429	2	WBSCR17	7	71135089	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	15913373	71135089	88003574	47	10213											
SAMD9	54809	broad.mit.edu	37	7	92733048	92733048	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:92733048C>T	uc003umf.3	-	2	2633	c.2363G>A	c.(2362-2364)cGt>cAt	p.R788H	SAMD9_uc003umg.3_Missense_Mutation_p.R788H|SAMD9_uc022ahg.1_Missense_Mutation_p.R788H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	788						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTATTCCTGACGGTTCATTGC	0.378													T	92733048	C	T	92733048	3	4	151	1	0	0	0	0	1	0	0	0	13826	536	19	1	2410	1	SAMD9	7	92733048	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	21597959	92733048	66405615	48	10214											
TRIM56	81844	broad.mit.edu	37	7	100730794	100730794	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:100730794C>T	uc003uxq.3	+	2	432	c.201C>T	c.(199-201)ccC>ccT	p.P67P	TRIM56_uc003uxr.3_Silent_p.P67P|TRIM56_uc022aiw.1_Silent_p.P67P	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	67					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGCCGCCCGAGGGTGTGG	0.677													T	100730794	C	T	100730794	2	4	151	1	0	0	0	0	0	0	0	1	16527	639	23	2		2	TRIM56	7	100730794	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	7997746	100730794	58407869	49	10215											
RELN	5649	broad.mit.edu	37	7	103159906	103159906	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:103159906G>T	uc022ajr.1	-	48	7886	c.7726C>A	c.(7726-7728)Caa>Aaa	p.Q2576K	RELN_uc022ajq.1_Missense_Mutation_p.Q2576K|RELN_uc010liz.3_Missense_Mutation_p.Q2576K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2576					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.I2575I(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)		AAGTAAAATTGGATGAACTCA	0.378													T	103159906	G	T	103159906	3	4	151	1	0	0	0	0	1	0	0	0	13220	1357	47	5	2724	5	RELN	7	103159906	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	2429112	103159906	55978757	50	10216											
DLGAP2	9228	broad.mit.edu	37	8	1649565	1649565	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:1649565G>A	uc003wpl.3	+	11	3018	c.2921G>A	c.(2920-2922)cGg>cAg	p.R974Q	DLGAP2_uc003wpm.3_Missense_Mutation_p.R960Q	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	1053					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCCAGACCCGGCTCTGAGGG	0.706													A	1649565	G	A	1649565	3	1	151	1	0	0	0	0	1	0	0	0	4560	1116	39	2	2963	2	DLGAP2	8	1649565	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		1649565	144714457	51	10217											
ADAM28	10863	broad.mit.edu	37	8	24199150	24199150	+	Silent	SNP	G	G	A	rs145453785	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:24199150G>A	uc003xdy.3	+	15	1793	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.S257S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	570	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S570S(2)|p.G569W(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGTGGGTCGGATAATTTGC	0.413													A	24199150	G	A	24199150	2	1	151	1	0	0	0	0	0	0	0	1	246	1103	39	2		2	ADAM28	8	24199150	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	22549585	24199150	122164872	52	10218											
ARHGAP39	80728	broad.mit.edu	37	8	145771184	145771184	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:145771184A>G	uc003zds.1	-	6	2525	c.1970T>C	c.(1969-1971)cTc>cCc	p.L657P	ARHGAP39_uc011llk.1_Missense_Mutation_p.L657P|ARHGAP39_uc003zdt.1_Missense_Mutation_p.L657P	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	657					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACAGGCAGCGAGGTCCTCAGA	0.672													G	145771184	A	G	145771184	3	3	151	1	0	0	0	0	1	0	0	0	884	304	11	4	1402	4	ARHGAP39	8	145771184	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	121572034	145771184	592838	53	10219											
FREM1	158326	broad.mit.edu	37	9	14784500	14784500	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr9:14784500G>A	uc003zlm.3	-	24	5126	c.4310C>T	c.(4309-4311)cCg>cTg	p.P1437L	FREM1_uc010mic.3_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1437					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCATATCGCGGAGGGGAGGT	0.488													A	14784500	G	A	14784500	3	1	151	1	0	0	0	0	1	0	0	0	6044	1116	39	2	2335	2	FREM1	9	14784500	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		14784500	126428931	54	10220											
FOXD4L5	653427	broad.mit.edu	37	9	70177746	70177747	+	In_Frame_Ins	INS	-	-	GCC			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr9:70177746_70177747insGCC	uc010moc.3	-	0	1069_1070	c.237_238insGGC	c.(235-240)insGGC	p.79_80insG		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	79					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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.G79G(3)		endometrium(5)|lung(2)	7						GGGTCACTCGGGCCGCCGCCGC	0.688													GCC	70177747	-	GCC	70177746	7	5	151	1	0	1	1	0	0	0	0	0	6002	1232	43	0	1016	0	FOXD4L5	9	70177746	In_Frame_Ins	INS	-	TCGA-16-1048-01B-01D-1353-08	55393246	70177746	71035685	55	10221											
ZMIZ1	57178	broad.mit.edu	37	10	81065892	81065892	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:81065892G>T	uc001kaf.2	+	21	3031	c.2459G>T	c.(2458-2460)tGc>tTc	p.C820F	ZMIZ1_uc001kag.2_Missense_Mutation_p.C696F|ZMIZ1_uc010qlq.1_5'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	820					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GATCCCACGTGCAGCTGGCGG	0.607													T	81065892	G	T	81065892	3	4	151	1	0	0	0	0	1	0	0	0	17693	1319	46	5	2529	5	ZMIZ1	10	81065892	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		81065892	54468855	56	10222											
PNLIP	5406	broad.mit.edu	37	10	118307871	118307871	+	Splice_Site	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:118307871G>A	uc001lcm.3	+	4	245	c.202_splice	c.e4-1	p.E68_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	68					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGTCTAAACAGGAAGTTGCCG	0.388													A	118307871	G	A	118307871	5	1	151	1	0	0	0	0	0	0	1	0	12149	1014	35	3	211	3	PNLIP	10	118307871	Splice_Site	SNP	G	TCGA-16-1048-01B-01D-1353-08	37241979	118307871	17226876	57	10223											
KIAA1598	57698	broad.mit.edu	37	10	118728202	118728202	+	Silent	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:118728202G>T	uc021pzk.1	-	2	631	c.133C>A	c.(133-135)Cga>Aga	p.R45R	KIAA1598_uc009xyw.3_Silent_p.R45R|KIAA1598_uc001lcz.4_Silent_p.R45R|KIAA1598_uc010qso.2_5'UTR|KIAA1598_uc010qsp.1_Silent_p.R45R|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.4_Silent_p.R15R	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	45					axon guidance	axon		p.E44K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTTCATCTCGTTCTTGCCTA	0.318													T	118728202	G	T	118728202	2	4	151	1	0	0	0	0	0	0	0	1	8246	1153	40	5		5	KIAA1598	10	118728202	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	420331	118728202	16806545	58	10224											
STIM1	6786	broad.mit.edu	37	11	4045179	4045179	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:4045179G>A	uc021qco.1	+	2	915	c.347G>A	c.(346-348)aGc>aAc	p.S116N	STIM1_uc001lyv.2_Missense_Mutation_p.S116N|STIM1_uc009yef.2_Missense_Mutation_p.S116N	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	116					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AAGCTCATCAGCGTGGAGGAC	0.488													A	4045179	G	A	4045179	3	1	151	1	0	0	0	0	1	0	0	0	15282	971	34	3	357	3	STIM1	11	4045179	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		4045179	130961337	59	10225											
OR8I2	120586	broad.mit.edu	37	11	55861310	55861310	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:55861310T>C	uc010rix.2	+	0	527	c.527T>C	c.(526-528)tTt>tCt	p.F176S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H175fs*10(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCAATCATTTTTTTTGTGAC	0.443													C	55861310	T	C	55861310	3	2	151	1	0	0	0	0	1	0	0	0	11240	1841	64	4	529	4	OR8I2	11	55861310	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	51816131	55861310	79145206	60	10226											
SLC22A9	114571	broad.mit.edu	37	11	63137793	63137793	+	Missense_Mutation	SNP	C	C	T	rs143461929	by1000genomes	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:63137793C>T	uc001nww.3	+	0	533	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	89					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGAGAAGTGTCGTCGCTTTGT	0.537													T	63137793	C	T	63137793	3	4	151	1	0	0	0	0	1	0	0	0	14461	884	31	2	267	2	SLC22A9	11	63137793	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	7276483	63137793	71868723	61	10227											
TSGA10IP	254187	broad.mit.edu	37	11	65714723	65714723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:65714723C>T	uc001ogk.1	+	3	456	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	143										endometrium(2)|kidney(3)|lung(9)	14						CTCGTTCTCCCAGCGTCAGTC	0.657													T	65714723	C	T	65714723	4	4	151	1	0	0	0	0	0	1	0	0	16615	595	21	3	437	3	TSGA10IP	11	65714723	Nonsense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	2576930	65714723	69291793	62	10228											
MOGAT2	80168	broad.mit.edu	37	11	75439862	75439862	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:75439862C>T	uc010rru.2	+	4	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Silent_p.F144F	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	226					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCTTCTCCTTCGGGGAGAATG	0.537													T	75439862	C	T	75439862	2	4	151	1	0	0	0	0	0	0	0	1	9695	883	31	2		2	MOGAT2	11	75439862	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	9725139	75439862	59566654	63	10229											
GDPD4	220032	broad.mit.edu	37	11	76990356	76990356	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:76990356G>A	uc001oyf.3	-	2	393	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	48					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCACCAACAGCAATGAAGAG	0.433													A	76990356	G	A	76990356	2	1	151	1	0	0	0	0	0	0	0	1	6326	962	34	3		3	GDPD4	11	76990356	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	1550494	76990356	58016160	64	10230											
AMOTL1	154810	broad.mit.edu	37	11	94532995	94532995	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:94532995G>A	uc001pfb.3	+	2	809	c.639G>A	c.(637-639)gcG>gcA	p.A213A	AMOTL1_uc001pfc.3_Silent_p.A163A	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	213						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				agcagGGGGCGGTGGGCCATG	0.612													A	94532995	G	A	94532995	2	1	151	1	0	0	0	0	0	0	0	1	583	1103	39	2		2	AMOTL1	11	94532995	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	17542639	94532995	40473521	65	10231											
CLDN25	644672	broad.mit.edu	37	11	113650759	113650759	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:113650759G>A	uc009yyw.1	+	0	242	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	81						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CAGGTAGCCCGCATCCTCATG	0.557													A	113650759	G	A	113650759	3	1	151	1	0	0	0	0	1	0	0	0	3485	1087	38	1	244	1	CLDN25	11	113650759	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	19117764	113650759	21355757	66	10232											
AQP5	362	broad.mit.edu	37	12	50355944	50355944	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:50355944G>A	uc001rvo.2	+	0	666	c.144G>A	c.(142-144)gcG>gcA	p.A48A		NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	48					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TCGCGCTGGCGTTTGGCCTGG	0.667													A	50355944	G	A	50355944	2	1	151	1	0	0	0	0	0	0	0	1	829	1132	40	1		1	AQP5	12	50355944	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		50355944	83495951	67	10233											
HSD17B6	8630	broad.mit.edu	37	12	57167873	57167873	+	Silent	SNP	G	G	A	rs147344470	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:57167873G>A	uc001smg.1	+	1	347	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_003725	NP_003716	O14756	H17B6_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA.	79					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GGCTGGAGACGGTGACCCTGG	0.567													A	57167873	G	A	57167873	2	1	151	1	0	0	0	0	0	0	0	1	7387	1103	39	2		2	HSD17B6	12	57167873	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	6811929	57167873	76684022	68	10234											
NOS1	4842	broad.mit.edu	37	12	117669899	117669899	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:117669899C>T	uc001twn.2	-	22	4086	c.3375G>A	c.(3373-3375)ccG>ccA	p.P1125P	NOS1_uc021ren.1_Silent_p.P755P|NOS1_uc021reo.1_Silent_p.P755P|NOS1_uc001twm.2_Silent_p.P1091P	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1091	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.P1091P(1)|p.E1124K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGTGCAGGGCGGGAGGCGGA	0.602													T	117669899	C	T	117669899	2	4	151	1	0	0	0	0	0	0	0	1	10541	755	27	1		1	NOS1	12	117669899	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	60502026	117669899	16181996	69	10235											
TSC22D1	8848	broad.mit.edu	37	13	45148388	45148388	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:45148388G>T	uc001uzn.4	-	0	2314	c.1823C>A	c.(1822-1824)tCt>tAt	p.S608Y	TSC22D1_uc001uzo.2_Intron|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	608	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			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)		AGCCGCCTGAGAATATGGTAG	0.522													T	45148388	G	T	45148388	3	4	151	1	0	0	0	0	1	0	0	0	16604	942	33	5	1539	5	TSC22D1	13	45148388	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		45148388	70021490	70	10236											
TUBGCP3	10426	broad.mit.edu	37	13	113176787	113176787	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:113176787T>C	uc001vse.1	-	13	1779	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R	TUBGCP3_uc010tjq.1_Missense_Mutation_p.Q521R|TUBGCP3_uc001vsf.3_Missense_Mutation_p.Q531R	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	531					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	p.Q531*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AATCTTCCCCTGAAATGCATT	0.423													C	113176787	T	C	113176787	3	2	151	1	0	0	0	0	1	0	0	0	16764	1580	55	4	1167	4	TUBGCP3	13	113176787	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	68028399	113176787	1993091	71	10237											
AK7	122481	broad.mit.edu	37	14	96875256	96875256	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr14:96875256C>T	uc001yfn.2	+	3	520	c.476C>T	c.(475-477)gCg>gTg	p.A159V		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	159					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.W158R(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGACTTGGGCGCGCTCCAAA	0.473													T	96875256	C	T	96875256	3	4	151	1	0	0	0	0	1	0	0	0	444	768	27	1	490	1	AK7	14	96875256	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		96875256	10474284	72	10238											
AHNAK2	113146	broad.mit.edu	37	14	105407228	105407228	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr14:105407228G>C	uc010axc.1	-	6	14680	c.14560C>G	c.(14560-14562)Cct>Gct	p.P4854A	AHNAK2_uc021sen.1_Missense_Mutation_p.P251A|AHNAK2_uc021seo.1_5'UTR|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4754A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4854						nucleus				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)			AGAGAAACAGGAATCATGGAA	0.483													C	105407228	G	C	105407228	3	2	151	1	0	0	0	0	1	0	0	0	415	1174	41	5	2831	5	AHNAK2	14	105407228	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	8531972	105407228	1942312	73	10239											
NDN	4692	broad.mit.edu	37	15	23932352	23932352	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:23932352T>A	uc001ywk.3	-	0	99	c.13A>T	c.(13-15)Agt>Tgt	p.S5C		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	5					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.S5I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGATCCTTACTTTGTTCTGAC	0.642									Prader-Willi syndrome				A	23932352	T	A	23932352	3	1	151	1	0	0	0	0	1	0	0	0	10247	1609	56	5	956	5	NDN	15	23932352	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08		23932352	78599040	74	10240											
CHRFAM7A	89832	broad.mit.edu	37	15	30659651	30659651	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:30659651G>A	uc001zdt.1	-	8	1256	c.690C>T	c.(688-690)caC>caT	p.H230H	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.H139H|CHRFAM7A_uc010azn.2_Silent_p.H139H	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN	Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.	230						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CGTCGGGGTCGTGGTGGTGGT	0.602													A	30659651	G	A	30659651	2	1	151	1	0	0	0	0	0	0	0	1	3375	1136	40	1		1	CHRFAM7A	15	30659651	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	6727299	30659651	71871741	75	10241											
MNS1	55329	broad.mit.edu	37	15	56735891	56735893	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:56735891_56735893delTCT	uc002adr.2	-	5	1011_1013	c.846_848delAGA	c.(844-849)gaagat>gat	p.E282del	MNS1_uc010bfo.2_In_Frame_Del_p.E150del|TEX9_uc002adp.3_Intron|TEX9_uc010ugl.2_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	Homo sapiens meiosis-specific nuclear structural 1 (MNS1), mRNA.	282	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TGCCATCCGATCTTCTTCTCTTT	0.369													-	56735893	TCT	-	56735891	7	5	151	1	0	1	0	1	0	0	0	0	9677	1435	50	0	659	0	MNS1	15	56735891	In_Frame_Del	DEL	TCT	TCGA-16-1048-01B-01D-1353-08	26076240	56735891	45795501	76	10242											
ARID3B	10620	broad.mit.edu	37	15	74884098	74884098	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:74884098C>T	uc002aye.3	+	6	1564	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	ARID3B_uc002ayd.3_Missense_Mutation_p.R455C|ARID3B_uc010bjs.1_Missense_Mutation_p.R160C	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	455	REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGCCTTCCAGCGCAACTTTTT	0.647													T	74884098	C	T	74884098	3	4	151	1	0	0	0	0	1	0	0	0	917	768	27	1	1385	1	ARID3B	15	74884098	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	18148207	74884098	27647294	77	10243											
SRRM2	23524	broad.mit.edu	37	16	2812074	2812074	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:2812074G>A	uc002crk.3	+	10	2094	c.1545G>A	c.(1543-1545)agG>agA	p.R515R	SRRM2_uc002crj.1_Silent_p.R419R|SRRM2_uc002crl.1_Silent_p.R515R|SRRM2_uc010bsu.1_Silent_p.R419R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	515	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTGGCGTAGGTCCAGGTCTG	0.617													A	2812074	G	A	2812074	2	1	151	1	0	0	0	0	0	0	0	1	15168	1252	44	3		3	SRRM2	16	2812074	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		2812074	87542679	78	10244											
ACSM2A	123876	broad.mit.edu	37	16	20476938	20476938	+	Missense_Mutation	SNP	G	G	A	rs141326932		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:20476938G>A	uc010bwe.3	+	3	516	c.277G>A	c.(277-279)Gca>Aca	p.A93T	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.A14T|ACSM2A_uc002dhf.4_Missense_Mutation_p.A93T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A93T|ACSM2A_uc010vay.2_Missense_Mutation_p.A14T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	93					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGCCAGCAGGCAGCCAACGT	0.612													A	20476938	G	A	20476938	3	1	151	1	0	0	0	0	1	0	0	0	183	1203	42	3	283	3	ACSM2A	16	20476938	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	17664864	20476938	69877815	79	10245											
ACSM2B	348158	broad.mit.edu	37	16	20570670	20570670	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:20570670C>T	uc002dhj.4	-	3	487	c.277G>A	c.(277-279)Gca>Aca	p.A93T	ACSM2B_uc002dhk.4_Missense_Mutation_p.A93T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A93T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	93					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATGTTGGCTGCCTGCTGGCTG	0.602													T	20570670	C	T	20570670	3	4	151	1	0	0	0	0	1	0	0	0	184	739	26	3	1504	3	ACSM2B	16	20570670	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	93732	20570670	69784083	80	10246											
ALOX12B	242	broad.mit.edu	37	17	7989533	7989533	+	Silent	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:7989533G>T	uc002gjy.1	-	1	414	c.153C>A	c.(151-153)ggC>ggA	p.G51G	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	51	PLAT.				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						CGGTGTACTGGCCCACCTAGG	0.647										Multiple Myeloma(8;0.094)			T	7989533	G	T	7989533	2	4	151	1	0	0	0	0	0	0	0	1	537	1190	42	5		5	ALOX12B	17	7989533	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		7989533	73205677	81	10247											
SMCR7	125170	broad.mit.edu	37	17	18167942	18167942	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:18167942G>A	uc010vxq.2	+	3	1288	c.1262G>A	c.(1261-1263)gGc>gAc	p.G421D	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.G410D	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	410						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CTGCTCATCGGCAGCCTGGAG	0.627													A	18167942	G	A	18167942	3	1	151	1	0	0	0	0	1	0	0	0	14790	1203	42	3	1276	3	SMCR7	17	18167942	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	10178409	18167942	63027268	82	10248											
GPR179	440435	broad.mit.edu	37	17	36499092	36499092	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:36499092G>A	uc002hpz.3	-	0	602	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	194						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGGGCAGGGGTGTCCAGGTC	0.642													A	36499092	G	A	36499092	3	1	151	1	0	0	0	0	1	0	0	0	6674	1261	44	3	6566	3	GPR179	17	36499092	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	18331150	36499092	44696118	83	10249											
PPM1D	8493	broad.mit.edu	37	17	58740521	58740521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:58740521G>T	uc002iyt.2	+	5	1658	c.1426G>T	c.(1426-1428)Gaa>Taa	p.E476*	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	476					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCACTTGAAGAAAATTGCGC	0.403											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	T	58740521	G	T	58740521	4	4	151	1	0	0	0	0	0	1	0	0	12337	943	33	5	1448	5	PPM1D	17	58740521	Nonsense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	22241429	58740521	22454689	84	10250											
C17orf77	146723	broad.mit.edu	37	17	72588368	72588368	+	Silent	SNP	T	T	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:72588368T>G	uc002jla.1	+	2	545	c.183T>G	c.(181-183)ggT>ggG	p.G61G	CD300LD_uc002jkz.2_5'UTR|C17orf77_uc021ucq.1_Silent_p.G61G	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	61						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CTCTCCTTGGTGATCACAGGT	0.537													G	72588368	T	G	72588368	2	3	151	1	0	0	0	0	0	0	0	1	1882	1683	59	5		5	C17orf77	17	72588368	Silent	SNP	T	TCGA-16-1048-01B-01D-1353-08	13847847	72588368	8606842	85	10251											
EMILIN2	84034	broad.mit.edu	37	18	2892201	2892201	+	Silent	SNP	G	G	A	rs3810066	by1000genomes	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:2892201G>A	uc002kln.3	+	3	2235	c.2076G>A	c.(2074-2076)acG>acA	p.T692T		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	692					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGAATGCACGCAGGGGGTCC	0.572													A	2892201	G	A	2892201	2	1	151	1	0	0	0	0	0	0	0	1	5094	1074	38	1		1	EMILIN2	18	2892201	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		2892201	75185047	86	10252											
DCC	1630	broad.mit.edu	37	18	50592528	50592528	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:50592528C>A	uc002lfe.2	+	6	1869	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	DCC_uc010xdr.1_Missense_Mutation_p.P266H|DCC_uc010dpf.2_Missense_Mutation_p.P73H	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	418					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P418T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCATTGTCCCTAAGCCTGGT	0.438													A	50592528	C	A	50592528	3	1	151	1	0	0	0	0	1	0	0	0	4282	681	24	5	1279	5	DCC	18	50592528	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	47700327	50592528	27484720	87	10253											
ZNF532	55205	broad.mit.edu	37	18	56587377	56587377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:56587377G>T	uc010xeg.2	+	2	2055	c.1858G>T	c.(1858-1860)Gag>Tag	p.E620*	ZNF532_uc002lhp.3_Nonsense_Mutation_p.E618*|ZNF532_uc002lho.3_Nonsense_Mutation_p.E620*|ZNF532_uc002lhr.3_Nonsense_Mutation_p.E618*|ZNF532_uc002lhs.3_Nonsense_Mutation_p.E618*	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAGTGCTTGGAGTGTGGGGA	0.537													T	56587377	G	T	56587377	4	4	151	1	0	0	0	0	0	1	0	0	17969	1175	41	5	1860	5	ZNF532	18	56587377	Nonsense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	5994849	56587377	21489871	88	10254											
MC4R	4160	broad.mit.edu	37	18	58039346	58039346	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:58039346C>T	uc002lie.1	-	0	656	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	79					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TGAAAAAGTACATGGGTGAAT	0.438													T	58039346	C	T	58039346	3	4	151	1	0	0	0	0	1	0	0	0	9366	478	17	3	765	3	MC4R	18	58039346	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	1451969	58039346	20037902	89	10255											
ARID3A	1820	broad.mit.edu	37	19	964263	964263	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:964263G>A	uc002lql.3	+	4	1072	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	261	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		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)		CCTGTGAACCGCATCCCCATC	0.637													A	964263	G	A	964263	3	1	151	1	0	0	0	0	1	0	0	0	916	1087	38	1	796	1	ARID3A	19	964263	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		964263	58164720	90	10256											
FUT6	2528	broad.mit.edu	37	19	5832254	5832254	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:5832254G>C	uc002mdf.1	-	3	851	c.325C>G	c.(325-327)Cac>Gac	p.H109D	FUT6_uc021unl.1_Missense_Mutation_p.H109D|FUT6_uc002mdg.1_Missense_Mutation_p.H109D|FUT6_uc002mdh.1_Missense_Mutation_p.H109D|FUT6_uc021unm.1_Missense_Mutation_p.H109D	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	109					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ACCTCTCGGTGGTGCACGATG	0.642													C	5832254	G	C	5832254	3	2	151	1	0	0	0	0	1	0	0	0	6108	1348	47	5	758	5	FUT6	19	5832254	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4867991	5832254	53296729	91	10257											
CYP2B6	1555	broad.mit.edu	37	19	41515999	41515999	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:41515999G>A	uc002opr.1	+	5	930	c.923G>A	c.(922-924)cGc>cAc	p.R308H	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	308					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCACTCTCCGCTACGGCTTC	0.552													A	41515999	G	A	41515999	3	1	151	1	0	0	0	0	1	0	0	0	4164	1087	38	1	945	1	CYP2B6	19	41515999	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	35683745	41515999	17612984	92	10258											
FOXA3	3171	broad.mit.edu	37	19	46375889	46375889	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:46375889G>A	uc002pdr.3	+	1	823	c.626G>A	c.(625-627)cGc>cAc	p.R209H		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	209					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TACCTGCGCCGCCAGAAACGC	0.627													A	46375889	G	A	46375889	3	1	151	1	0	0	0	0	1	0	0	0	5991	1087	38	1	632	1	FOXA3	19	46375889	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4859890	46375889	12753094	93	10259											
ANGPT4	51378	broad.mit.edu	37	20	869018	869018	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:869018A>G	uc002wei.3	-	2	633	c.530T>C	c.(529-531)cTg>cCg	p.L177P	ANGPT4_uc010zpn.2_Missense_Mutation_p.L171P	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	177					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGGTTCTCCAGCTTGTTGGT	0.597													G	869018	A	G	869018	3	3	151	1	0	0	0	0	1	0	0	0	612	188	7	4	1009	4	ANGPT4	20	869018	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08		869018	62156502	94	10260											
DHX35	60625	broad.mit.edu	37	20	37632428	37632428	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:37632428C>A	uc002xjh.3	+	10	919	c.889C>A	c.(889-891)Cag>Aag	p.Q297K	DHX35_uc010zwa.2_Missense_Mutation_p.Q142K|DHX35_uc010zwc.2_Missense_Mutation_p.Q266K|DHX35_uc010zwb.2_Missense_Mutation_p.Q142K	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	297	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCTCATCGAGCAGGCTCGAGC	0.453													A	37632428	C	A	37632428	3	1	151	1	0	0	0	0	1	0	0	0	4508	711	25	5	931	5	DHX35	20	37632428	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	36763410	37632428	25393092	95	10261											
BACH1	571	broad.mit.edu	37	21	30693606	30693606	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr21:30693606C>G	uc002ynk.3	+	1	248	c.5C>G	c.(4-6)tCt>tGt	p.S2C	BACH1_uc002ynj.3_Missense_Mutation_p.S2C|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	2						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGCAGAATGTCTCTGAGTGAG	0.403													G	30693606	C	G	30693606	3	3	151	1	0	0	0	0	1	0	0	0	1283	913	32	5	7	5	BACH1	21	30693606	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		30693606	17436289	96	10262											
KRTAP12-3	386683	broad.mit.edu	37	21	46078019	46078019	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr21:46078019G>A	uc002zft.3	+	0	171	c.123G>A	c.(121-123)acG>acA	p.T41T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	41	14 X 5 AA approximate repeats.					intermediate filament		p.C40*(1)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGAGCTGCACGCGCATTGTGT	0.637													A	46078019	G	A	46078019	2	1	151	1	0	0	0	0	0	0	0	1	8520	1074	38	1		1	KRTAP12-3	21	46078019	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	15384413	46078019	2051876	97	10263											
PARVG	64098	broad.mit.edu	37	22	44581720	44581720	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr22:44581720C>T	uc011aqe.2	+	3	536	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	PARVG_uc010gzo.3_Missense_Mutation_p.R105W|PARVG_uc021wra.1_Missense_Mutation_p.R38W|PARVG_uc003bep.3_Missense_Mutation_p.R38W|PARVG_uc010gzq.1_Non-coding_Transcript|PARVG_uc021wrb.1_Missense_Mutation_p.R38W|PARVG_uc011aqf.2_Missense_Mutation_p.R38W|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	38					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACCCACTTCCCGGAAGGACCC	0.607													T	44581720	C	T	44581720	3	4	151	1	0	0	0	0	1	0	0	0	11470	643	23	2	118	2	PARVG	22	44581720	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		44581720	6722846	98	10264											
PHF8	23133	broad.mit.edu	37	X	53970579	53970579	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrX:53970579C>T	uc004dsu.3	-	19	2991	c.2745G>A	c.(2743-2745)aaG>aaA	p.K915K	PHF8_uc004dsv.3_Silent_p.K745K|PHF8_uc004dst.3_Silent_p.K879K|PHF8_uc004dsw.3_Silent_p.K778K|PHF8_uc004dsx.3_Silent_p.K643K|PHF8_uc004dsy.3_Silent_p.K862K	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	915					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTGGGCCAGCTTTGCAGCTG	0.592													T	53970579	C	T	53970579	2	4	151	1	0	0	0	0	0	0	0	1	11840	796	28	3		3	PHF8	23	53970579	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08		53970579	101299981	99	10265											
PCDH11Y	83259	broad.mit.edu	37	Y	4966471	4966471	+	Silent	SNP	A	A	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrY:4966471A>G	uc004fqo.3	+	1	1586	c.852A>G	c.(850-852)acA>acG	p.T284T	PCDH11Y_uc010nwg.1_Silent_p.T273T|PCDH11Y_uc004fql.1_Silent_p.T273T|PCDH11Y_uc004fqm.1_Silent_p.T273T|PCDH11Y_uc004fqn.1_Silent_p.T284T|PCDH11Y_uc004fqp.1_Silent_p.T55T	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	284	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTAAGGAGACAGAGATTGAAG	0.428													G	4966471	A	G	4966471	2	3	151	1	0	0	0	0	0	0	0	1	11509	175	7	4		4	PCDH11Y	24	4966471	Silent	SNP	A	TCGA-16-1048-01B-01D-1353-08		4966471	54407095	100	10266											
EPHA10	284656	broad.mit.edu	37	1	38227511	38227511	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:38227511C>T	uc009vvi.3	-	2	502	c.416G>A	c.(415-417)cGt>cAt	p.R139H	EPHA10_uc001cbw.4_Missense_Mutation_p.R139H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	139						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.R139H(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACGCCCACGGCCCAGGTC	0.657													T	38227511	C	T	38227511	3	4	152	1	0	0	0	0	1	0	0	0	5166	536	19	1	2708	1	EPHA10	1	38227511	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		38227511	211023110	1	10267											
DAB1	1600	broad.mit.edu	37	1	57535099	57535099	+	Splice_Site	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:57535099C>T	uc009vzx.1	-	8	918	c.598_splice	c.e8-1	p.Y200_splice	DAB1_uc001cyt.1_Splice_Site_p.Y200_splice|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Splice_Site_p.Y200_splice	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	200					cell differentiation|nervous system development					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						ACACAATGTACTATTACAGGA	0.413													T	57535099	C	T	57535099	5	4	152	1	0	0	0	0	0	0	1	0	4217	579	20	3	1098	3	DAB1	1	57535099	Splice_Site	SNP	C	TCGA-19-1390-01A-01D-1495-08	19307588	57535099	191715522	2	10268											
ST6GALNAC3	256435	broad.mit.edu	37	1	76877752	76877752	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:76877752C>T	uc001dhh.2	+	2	436	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ST6GALNAC3_uc001dhg.4_Silent_p.G91G|ST6GALNAC3_uc010orh.1_Silent_p.G26G	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	91					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AGATGGTTGGCCAGAAGGTGG	0.448													T	76877752	C	T	76877752	2	4	152	1	0	0	0	0	0	0	0	1	15224	726	26	3		3	ST6GALNAC3	1	76877752	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	19342653	76877752	172372869	3	10269											
PDE4DIP	9659	broad.mit.edu	37	1	144854614	144854614	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:144854614C>T	uc021ouh.1	-	41	7158	c.6856G>A	c.(6856-6858)Gta>Ata	p.V2286I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.V2286I|PDE4DIP_uc001elx.4_Missense_Mutation_p.V2180I|PDE4DIP_uc001elv.4_Missense_Mutation_p.V1293I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2286					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTGGATACTTTGGTTCTC	0.498			T	PDGFRB	MPD								T	144854614	C	T	144854614	3	4	152	1	0	0	0	0	1	0	0	0	11643	565	20	3	196	3	PDE4DIP	1	144854614	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	67976862	144854614	104396007	4	10270											
LCE1E	353135	broad.mit.edu	37	1	152760044	152760044	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:152760044C>A	uc021ozg.1	+	0	269	c.269C>A	c.(268-270)cCc>cAc	p.P90H	LCE1E_uc001fan.3_Missense_Mutation_p.P90H	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	90	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCACAGACCCCAGAGCTCT	0.687													A	152760044	C	A	152760044	3	1	152	1	0	0	0	0	1	0	0	0	8663	623	22	5	271	5	LCE1E	1	152760044	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	7905430	152760044	96490577	5	10271											
RGS4	5999	broad.mit.edu	37	1	163044110	163044110	+	Splice_Site	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:163044110G>A	uc001gcl.4	+	6	999	c.670_splice	c.e6-1	p.V224_splice	RGS4_uc009wuy.3_Splice_Site_p.V127_splice|RGS4_uc009wuz.3_Splice_Site_p.C71_splice|RGS4_uc009wva.3_Splice_Site_p.V109_splice	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	127					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						TTGCCCCTCAGGTGAACCTGG	0.488													A	163044110	G	A	163044110	5	1	152	1	0	0	0	0	0	0	1	0	13307	1014	35	3	691	3	RGS4	1	163044110	Splice_Site	SNP	G	TCGA-19-1390-01A-01D-1495-08	10284066	163044110	86206511	6	10272											
C1orf129	80133	broad.mit.edu	37	1	170928687	170928687	+	Silent	SNP	T	T	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:170928687T>G	uc010plz.2	+	4	391	c.237T>G	c.(235-237)ctT>ctG	p.L79L	C1orf129_uc001ghg.3_Silent_p.L79L|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	79							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCAAGTCTTGACAAAGTAA	0.363													G	170928687	T	G	170928687	2	3	152	1	0	0	0	0	0	0	0	1	1996	1799	63	5		5	C1orf129	1	170928687	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	7884577	170928687	78321934	7	10273											
CACNA1E	777	broad.mit.edu	37	1	181693656	181693656	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:181693656G>A	uc009wxt.3	+	16	2320	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	CACNA1E_uc001gow.3_Missense_Mutation_p.A709T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A709T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	709					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTCGCCAACGCCCAGGAACT	0.463													A	181693656	G	A	181693656	3	1	152	1	0	0	0	0	1	0	0	0	2542	1087	38	1	2191	1	CACNA1E	1	181693656	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	10764969	181693656	67556965	8	10274											
C4BPA	722	broad.mit.edu	37	1	207300203	207300203	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:207300203T>C	uc001hfo.3	+	6	1046	c.852T>C	c.(850-852)gaT>gaC	p.D284D		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	284	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTGATGCTGATAGCAAATGGA	0.403													C	207300203	T	C	207300203	2	2	152	1	0	0	0	0	0	0	0	1	2249	1403	49	4		4	C4BPA	1	207300203	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	25606547	207300203	41950418	9	10275											
PARP1	142	broad.mit.edu	37	1	226550806	226550806	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:226550806C>T	uc001hqd.4	-	20	3013	c.2842G>A	c.(2842-2844)Gtc>Atc	p.V948I		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	948	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTACCTTTGACACTGTGCTTG	0.527								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					T	226550806	C	T	226550806	3	4	152	1	0	0	0	0	1	0	0	0	11454	478	17	3	214	3	PARP1	1	226550806	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	19250603	226550806	22699815	10	10276											
RYR2	6262	broad.mit.edu	37	1	237789020	237789020	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:237789020C>T	uc001hyl.1	+	39	6202	c.6082C>T	c.(6082-6084)Cgt>Tgt	p.R2028C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2028	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			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)			AATTAGAGGGCGTCTGCTATC	0.393													T	237789020	C	T	237789020	3	4	152	1	0	0	0	0	1	0	0	0	13769	768	27	1	6240	1	RYR2	1	237789020	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	11238214	237789020	11461601	11	10277											
OR2T27	403239	broad.mit.edu	37	1	248814164	248814164	+	Missense_Mutation	SNP	C	C	T	rs144642254		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:248814164C>T	uc010pzo.2	-	0	22	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGCATACACGGAATAATTG	0.433													T	248814164	C	T	248814164	3	4	152	1	0	0	0	0	1	0	0	0	11021	536	19	1	934	1	OR2T27	1	248814164	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	11025144	248814164	436457	12	10278											
NCOA1	8648	broad.mit.edu	37	2	24929877	24929877	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:24929877C>T	uc002rfk.3	+	10	1797	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L	NCOA1_uc010eye.3_Missense_Mutation_p.S513L|NCOA1_uc002rfi.3_Missense_Mutation_p.S362L|NCOA1_uc002rfj.3_Missense_Mutation_p.S513L|NCOA1_uc002rfl.3_Missense_Mutation_p.S513L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	513	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTAATATTTCGACATTAAGC	0.418			T	PAX3	alveolar rhadomyosarcoma								T	24929877	C	T	24929877	3	4	152	1	0	0	0	0	1	0	0	0	10228	893	31	2	1572	2	NCOA1	2	24929877	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		24929877	218269496	13	10279											
FAM179A	165186	broad.mit.edu	37	2	29268218	29268218	+	Silent	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:29268218T>A	uc010ezl.3	+	18	3015	c.2664T>A	c.(2662-2664)gcT>gcA	p.A888A	FAM179A_uc010ymm.2_Silent_p.A833A|FAM179A_uc002rmr.4_Silent_p.A415A|FAM179A_uc002rms.1_Silent_p.A186A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	888							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCGCTTGCTGGGCGAGTGC	0.627													A	29268218	T	A	29268218	2	1	152	1	0	0	0	0	0	0	0	1	5505	1567	55	5		5	FAM179A	2	29268218	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	4338341	29268218	213931155	14	10280											
CYP1B1	1545	broad.mit.edu	37	2	38302345	38302345	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:38302345C>T	uc002rqo.2	-	1	589	c.187G>A	c.(187-189)Gcg>Acg	p.A63T		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	63					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	ACCGCCGCCGCGTTTCCGATC	0.721													T	38302345	C	T	38302345	3	4	152	1	0	0	0	0	1	0	0	0	4151	768	27	1	1452	1	CYP1B1	2	38302345	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	9034127	38302345	204897028	15	10281											
ALMS1	7840	broad.mit.edu	37	2	73651879	73651879	+	Silent	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:73651879T>A	uc002sje.1	+	4	1197	c.1086T>A	c.(1084-1086)gcT>gcA	p.A362A	ALMS1_uc002sjf.1_Silent_p.A320A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	362					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAATTTAGCTGATAAAGATC	0.358													A	73651879	T	A	73651879	2	1	152	1	0	0	0	0	0	0	0	1	535	1567	55	5		5	ALMS1	2	73651879	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	35349534	73651879	169547494	16	10282											
DQX1	165545	broad.mit.edu	37	2	74747143	74747143	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:74747143C>T	uc010yrw.2	-	8	1679	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	DQX1_uc002smc.3_Missense_Mutation_p.R66H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	505						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTGGAGGACGGGTAAACCC	0.527													T	74747143	C	T	74747143	3	4	152	1	0	0	0	0	1	0	0	0	4751	536	19	1	655	1	DQX1	2	74747143	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	1095264	74747143	168452230	17	10283											
MRPL30	51263	broad.mit.edu	37	2	99811636	99811636	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:99811636G>C	uc002szu.3	+	4	535	c.337G>C	c.(337-339)Gtt>Ctt	p.V113L	MRPL30_uc002szl.1_Non-coding_Transcript|MRPL30_uc002szr.3_Missense_Mutation_p.V113L|MRPL30_uc002szv.3_Missense_Mutation_p.V113L	NM_145212	NP_660213	Q8TCC3	RM30_HUMAN	Homo sapiens mitochondrial ribosomal protein L30 (MRPL30), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	113					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATTGAAAGTAGTTAAGCATTT	0.333													C	99811636	G	C	99811636	3	2	152	1	0	0	0	0	1	0	0	0	9794	1029	36	5	351	5	MRPL30	2	99811636	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	25064493	99811636	143387737	18	10284											
THSD7B	80731	broad.mit.edu	37	2	138420998	138420998	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:138420998T>C	uc002tva.1	+	24	4414	c.4414T>C	c.(4414-4416)Tca>Cca	p.S1472P	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATAATGAAATCAAATGGTTT	0.383													C	138420998	T	C	138420998	3	2	152	1	0	0	0	0	1	0	0	0	15877	1435	50	4	4514	4	THSD7B	2	138420998	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	38609362	138420998	104778375	19	10285											
XIRP2	129446	broad.mit.edu	37	2	168106391	168106391	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:168106391G>A	uc002udx.3	+	8	8578	c.8489G>A	c.(8488-8490)cGa>cAa	p.R2830Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R2655Q|XIRP2_uc010fpq.3_Missense_Mutation_p.R2608Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2655					actin cytoskeleton organization	cell junction	actin binding			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						ATGATTGGTCGAAAAGAAGAG	0.398													A	168106391	G	A	168106391	3	1	152	1	0	0	0	0	1	0	0	0	17427	1058	37	2	8519	2	XIRP2	2	168106391	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	29685393	168106391	75092982	20	10286											
TTN	7273	broad.mit.edu	37	2	179431720	179431720	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179431720A>G	uc021vsy.1	-	274	71660	c.71435T>C	c.(71434-71436)aTg>aCg	p.M23812T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M17507T|TTN_uc021vta.1_Missense_Mutation_p.M17440T|TTN_uc021vtb.1_Missense_Mutation_p.M17315T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24739	Fibronectin type-III 73.						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)			TGGATTTTTCATTAGTACTGG	0.403													G	179431720	A	G	179431720	3	3	152	1	0	0	0	0	1	0	0	0	16732	217	8	4	28988	4	TTN	2	179431720	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	11325329	179431720	63767653	21	10287											
TTN	7273	broad.mit.edu	37	2	179456867	179456867	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179456867C>T	uc021vsy.1	-	250	52285	c.52060G>A	c.(52060-52062)Gcc>Acc	p.A17354T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A11049T|TTN_uc021vta.1_Missense_Mutation_p.A10982T|TTN_uc021vtb.1_Missense_Mutation_p.A10857T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18281	Fibronectin type-III 26.						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)			GACCACTGGGCGCTGGCAACA	0.448													T	179456867	C	T	179456867	3	4	152	1	0	0	0	0	1	0	0	0	16732	768	27	1	48459	1	TTN	2	179456867	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	25147	179456867	63742506	22	10288											
SMARCAL1	50485	broad.mit.edu	37	2	217329391	217329391	+	Splice_Site	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:217329391G>A	uc002vgc.4	+	13	2471	c.2141_splice	c.e13+1	p.I714_splice	SMARCAL1_uc002vgd.4_Splice_Site_p.I714_splice|SMARCAL1_uc010fvg.3_Splice_Site_p.I692_splice	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	714					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CATCTGTCATGTAAGTGGTCA	0.363									Schimke Immuno-Osseous Dysplasia				A	217329391	G	A	217329391	5	1	152	1	0	0	0	0	0	0	1	0	14773	1391	48	3	2184	3	SMARCAL1	2	217329391	Splice_Site	SNP	G	TCGA-19-1390-01A-01D-1495-08	37872524	217329391	25869982	23	10289											
ALS2CL	259173	broad.mit.edu	37	3	46720751	46720751	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:46720751G>A	uc003cqa.2	-	14	1768	c.1575C>T	c.(1573-1575)gaC>gaT	p.D525D	ALS2CL_uc003cpx.2_5'Flank|ALS2CL_uc003cpy.2_5'Flank|ALS2CL_uc003cpz.2_Silent_p.D40D|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.D525D	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	525					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACAGGGAGTCGTCTTCAGAGA	0.627													A	46720751	G	A	46720751	2	1	152	1	0	0	0	0	0	0	0	1	551	1136	40	1		1	ALS2CL	3	46720751	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08		46720751	151301679	24	10290											
MORC1	27136	broad.mit.edu	37	3	108778663	108778663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:108778663C>A	uc003dxl.3	-	11	1108	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	MORC1_uc011bhn.2_Nonsense_Mutation_p.E341*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	341					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTGTTTCTCTTTAAGATTC	0.368													A	108778663	C	A	108778663	4	1	152	1	0	0	0	0	0	1	0	0	9701	922	32	5	2001	5	MORC1	3	108778663	Nonsense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	62057912	108778663	89243767	25	10291											
GOLGB1	2804	broad.mit.edu	37	3	121410932	121410932	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:121410932C>T	uc010hrc.3	-	13	7405	c.7279G>A	c.(7279-7281)Gag>Aag	p.E2427K	GOLGB1_uc003eei.4_Missense_Mutation_p.E2422K|GOLGB1_uc003eej.4_Missense_Mutation_p.E2388K|GOLGB1_uc021xcy.1_Missense_Mutation_p.E2347K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2422					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATATTCTCCTCTTCCTCCTGG	0.398													T	121410932	C	T	121410932	3	4	152	1	0	0	0	0	1	0	0	0	6565	922	32	3	2551	3	GOLGB1	3	121410932	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	12632269	121410932	76611498	26	10292											
CASR	846	broad.mit.edu	37	3	122004023	122004023	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:122004023C>T	uc003eew.4	+	6	3690	c.3252C>T	c.(3250-3252)aaC>aaT	p.N1084N	CASR_uc003eev.4_Silent_p.N1074N	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1074					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTACAGAAAACGTAGTGAATT	0.522													T	122004023	C	T	122004023	2	4	152	1	0	0	0	0	0	0	0	1	2682	535	19	1		1	CASR	3	122004023	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	593091	122004023	76018407	27	10293											
TLR1	7096	broad.mit.edu	37	4	38798595	38798595	+	Missense_Mutation	SNP	G	G	A	rs144775976	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:38798595G>A	uc003gtl.3	-	3	2132	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	TLR1_uc021xnn.1_Missense_Mutation_p.R620W	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	620					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GCCCTGCGCCGGGTCTGGGTC	0.517													A	38798595	G	A	38798595	3	1	152	1	0	0	0	0	1	0	0	0	15946	1115	39	2	506	2	TLR1	4	38798595	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		38798595	152355681	28	10294											
PDGFRA	5156	broad.mit.edu	37	4	55138611	55138611	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:55138611G>A	uc003han.4	+	8	1619	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324R|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	430	Ig-like C2-type 5.				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			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)	CTCAACTGGGGGACAGACGGT	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55138611	G	A	55138611	3	1	152	1	0	0	0	0	1	0	0	0	11661	1233	43	3	1318	3	PDGFRA	4	55138611	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	16340016	55138611	136015665	29	10295											
PDGFRA	5156	broad.mit.edu	37	4	55138664	55138664	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:55138664G>C	uc003han.4	+	8	1672	c.1341G>C	c.(1339-1341)tgG>tgC	p.W447C	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W341C|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	447	Ig-like C2-type 5.				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			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)	ATATTGAGTGGATGATATGCA	0.438			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55138664	G	C	55138664	3	2	152	1	0	0	0	0	1	0	0	0	11661	1183	41	5	1371	5	PDGFRA	4	55138664	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	53	55138664	136015612	30	10296											
FRAS1	80144	broad.mit.edu	37	4	79418093	79418093	+	Silent	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:79418093C>A	uc003hlb.2	+	59	9533	c.9093C>A	c.(9091-9093)atC>atA	p.I3031I	FRAS1_uc003hlc.1_Silent_p.I33I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3026	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			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						TGGCCACCATCACCATATCCA	0.408													A	79418093	C	A	79418093	2	1	152	1	0	0	0	0	0	0	0	1	6042	816	29	5		5	FRAS1	4	79418093	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	24279429	79418093	111736183	31	10297											
LARP7	51574	broad.mit.edu	37	4	113568448	113568448	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:113568448G>A	uc003iaz.3	+	8	1226	c.761G>A	c.(760-762)aGc>aAc	p.S254N	LARP7_uc003iay.3_Missense_Mutation_p.S247N|LARP7_uc003iba.3_Missense_Mutation_p.S168N|LARP7_uc003ibb.3_Missense_Mutation_p.S247N	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.	247	Lys-rich.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		agcaacaCCAGCATCAGTAAA	0.403													A	113568448	G	A	113568448	3	1	152	1	0	0	0	0	1	0	0	0	8633	971	34	3	762	3	LARP7	4	113568448	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	34150355	113568448	77585828	32	10298											
ARFIP1	27236	broad.mit.edu	37	4	153809448	153809448	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:153809448G>A	uc003imz.3	+	7	1231	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	ARFIP1_uc003inb.3_Missense_Mutation_p.E287K|ARFIP1_uc003ina.3_Missense_Mutation_p.E287K|ARFIP1_uc003inc.3_Missense_Mutation_p.E319K|ARFIP1_uc011cij.2_Missense_Mutation_p.E139K	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	319	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GAAATTTCTAGAAGAAAATAA	0.353													A	153809448	G	A	153809448	3	1	152	1	0	0	0	0	1	0	0	0	854	943	33	3	981	3	ARFIP1	4	153809448	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	40241000	153809448	37344828	33	10299											
FSTL5	56884	broad.mit.edu	37	4	162459448	162459448	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:162459448A>G	uc003iqh.3	-	9	1618	c.1182T>C	c.(1180-1182)aaT>aaC	p.N394N	FSTL5_uc003iqi.3_Silent_p.N393N|FSTL5_uc010iqv.3_Silent_p.N393N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	394	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCTCACTGCCATTTGCTGAAA	0.408													G	162459448	A	G	162459448	2	3	152	1	0	0	0	0	0	0	0	1	6080	214	8	4		4	FSTL5	4	162459448	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	8650000	162459448	28694828	34	10300											
IRX2	153572	broad.mit.edu	37	5	2749779	2749779	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:2749779G>A	uc003jda.3	-	1	614	c.372C>T	c.(370-372)gaC>gaT	p.D124D	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.D124D	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D124D(2)|p.R123Q(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGGCCGTGGCGTCCCGCGTGG	0.652													A	2749779	G	A	2749779	2	1	152	1	0	0	0	0	0	0	0	1	7844	1136	40	1		1	IRX2	5	2749779	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08		2749779	178165481	35	10301											
BDP1	55814	broad.mit.edu	37	5	70813215	70813215	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:70813215G>A	uc003kbp.1	+	21	5190	c.4927G>A	c.(4927-4929)Gaa>Aaa	p.E1643K	BDP1_uc003kbo.3_Missense_Mutation_p.E1643K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1643					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAGAATGTATGAAAATCAAAG	0.303													A	70813215	G	A	70813215	3	1	152	1	0	0	0	0	1	0	0	0	1395	1291	45	3	5013	3	BDP1	5	70813215	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	68063436	70813215	110102045	36	10302											
JMY	133746	broad.mit.edu	37	5	78612055	78612055	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:78612055T>C	uc003kfx.4	+	9	3441	c.2892T>C	c.(2890-2892)ctT>ctC	p.L964L		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	964					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ATGAAGCTCTTAGAAGAATTA	0.438													C	78612055	T	C	78612055	2	2	152	1	0	0	0	0	0	0	0	1	7957	1741	61	4		4	JMY	5	78612055	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	7798840	78612055	102303205	37	10303											
HOMER1	9456	broad.mit.edu	37	5	78697771	78697771	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:78697771T>C	uc003kfy.3	-	5	1738	c.635A>G	c.(634-636)aAa>aGa	p.K212R	HOMER1_uc010jab.3_Intron|HOMER1_uc010jac.3_Intron|HOMER1_uc010jad.3_Missense_Mutation_p.K38R	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	212					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		AAGTTGCTGTTTCCATTGTTT	0.478													C	78697771	T	C	78697771	3	2	152	1	0	0	0	0	1	0	0	0	7278	1841	64	4	445	4	HOMER1	5	78697771	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	85716	78697771	102217489	38	10304											
ELL2	22936	broad.mit.edu	37	5	95234136	95234136	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:95234136G>T	uc003klr.4	-	7	1683	c.1333C>A	c.(1333-1335)Cta>Ata	p.L445I		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	445					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GGACACTTTAGTAGAACGGAA	0.373													T	95234136	G	T	95234136	3	4	152	1	0	0	0	0	1	0	0	0	5063	1020	36	5	609	5	ELL2	5	95234136	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	16536365	95234136	85681124	39	10305											
APC	324	broad.mit.edu	37	5	112174282	112174282	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:112174282T>C	uc003kpz.4	+	16	3184	c.2991T>C	c.(2989-2991)taT>taC	p.Y997Y	APC_uc011cvt.2_Silent_p.Y979Y|APC_uc003kpy.4_Silent_p.Y997Y|APC_uc010jbz.3_Silent_p.Y714Y|APC_uc010jca.3_Silent_p.Y297Y	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	997	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				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.Y997fs*8(1)|p.?(1)		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)		TTTGCAGTTATGGTCAATACC	0.343		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)			C	112174282	T	C	112174282	2	2	152	1	0	0	0	0	0	0	0	1	763	1471	51	4		4	APC	5	112174282	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	16940146	112174282	68740978	40	10306											
MAML1	9794	broad.mit.edu	37	5	179201677	179201677	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:179201677C>T	uc003mkm.3	+	4	3113	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	950					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAGATGGGCGGTCGGGCGG	0.706													T	179201677	C	T	179201677	2	4	152	1	0	0	0	0	0	0	0	1	9205	755	27	1		1	MAML1	5	179201677	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	67027395	179201677	1713583	41	10307											
MYLK4	340156	broad.mit.edu	37	6	2685573	2685573	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:2685573C>A	uc003mty.4	-	5	799	c.502G>T	c.(502-504)Gat>Tat	p.D168Y		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	168	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCGAAGGCATCGTACAGCTGG	0.557													A	2685573	C	A	2685573	3	1	152	1	0	0	0	0	1	0	0	0	10059	884	31	5	692	5	MYLK4	6	2685573	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		2685573	168429494	42	10308											
HIVEP1	3096	broad.mit.edu	37	6	12164550	12164550	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:12164550T>C	uc003nac.3	+	8	8192	c.8013T>C	c.(8011-8013)gtT>gtC	p.V2671V	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2671					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			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)				ATTCTGAAGTTTTTACAAAGC	0.577													C	12164550	T	C	12164550	2	2	152	1	0	0	0	0	0	0	0	1	7186	1828	64	4		4	HIVEP1	6	12164550	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	9478977	12164550	158950517	43	10309											
RNF5	6048	broad.mit.edu	37	6	32147882	32147882	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:32147882G>A	uc003oaj.4	+	4	551	c.424G>A	c.(424-426)Gag>Aag	p.E142K	AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	Homo sapiens ring finger protein 5 (RNF5), mRNA.	142					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						CAATGCCCATGAGCCTTTCCG	0.557													A	32147882	G	A	32147882	3	1	152	1	0	0	0	0	1	0	0	0	13497	1291	45	3	442	3	RNF5	6	32147882	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	19983332	32147882	138967185	44	10310											
COL11A2	1302	broad.mit.edu	37	6	33133402	33133402	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:33133402C>A	uc003ocx.1	-	62	4902	c.4674G>T	c.(4672-4674)agG>agT	p.R1558S	COL11A2_uc010jul.1_Missense_Mutation_p.R128S|COL11A2_uc003ocy.1_Missense_Mutation_p.R1472S|COL11A2_uc003ocz.1_Missense_Mutation_p.R1451S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1558	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.M1557I(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTTGGCCGCCTCATCTGCT	0.662													A	33133402	C	A	33133402	3	1	152	1	0	0	0	0	1	0	0	0	3668	738	26	5	552	5	COL11A2	6	33133402	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	985520	33133402	137981665	45	10311											
TFEB	7942	broad.mit.edu	37	6	41654875	41654875	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:41654875G>A	uc021yzl.1	-	5	962	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	TFEB_uc003oqs.1_Missense_Mutation_p.R254C|TFEB_uc003oqt.1_Missense_Mutation_p.R254C|TFEB_uc003oqu.1_Missense_Mutation_p.R254C|TFEB_uc003oqv.1_Missense_Mutation_p.R254C|TFEB_uc003oqr.1_Missense_Mutation_p.R169C	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	254					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCCTTGATGCGGTCATTGATG	0.537			T	ALPHA	renal (childhood epithelioid)								A	41654875	G	A	41654875	3	1	152	1	0	0	0	0	1	0	0	0	15798	1116	39	2	682	2	TFEB	6	41654875	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	8521473	41654875	129460192	46	10312											
C7orf31	136895	broad.mit.edu	37	7	25182279	25182279	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:25182279G>A	uc003sxn.1	-	7	1400	c.839C>T	c.(838-840)tCg>tTg	p.S280L		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	280										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGAGTGTACGAAGTGAGCCA	0.368													A	25182279	G	A	25182279	3	1	152	1	0	0	0	0	1	0	0	0	2387	1059	37	2	945	2	C7orf31	7	25182279	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		25182279	133956384	47	10313											
VPS41	27072	broad.mit.edu	37	7	38816326	38816326	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:38816326C>T	uc003tgy.3	-	10	861	c.835G>A	c.(835-837)Gat>Aat	p.D279N	VPS41_uc003tgz.3_Missense_Mutation_p.D254N|VPS41_uc010kxn.3_Missense_Mutation_p.D190N	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	279					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACAAGCTGATCACAGAGAGGT	0.413													T	38816326	C	T	38816326	3	4	152	1	0	0	0	0	1	0	0	0	17207	826	29	3	1805	3	VPS41	7	38816326	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	13634047	38816326	120322337	48	10314											
URGCP	55665	broad.mit.edu	37	7	43917540	43917540	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:43917540C>T	uc003tiw.3	-	5	1579	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.E465K|URGCP_uc003tiv.3_Missense_Mutation_p.E433K|URGCP_uc003tix.3_Missense_Mutation_p.E499K|URGCP_uc003tiy.3_Missense_Mutation_p.E465K|URGCP_uc003tiz.3_Missense_Mutation_p.E465K|URGCP_uc011kbj.2_Missense_Mutation_p.E465K	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	508					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACTCCTTCTCCACTTGGGCT	0.607													T	43917540	C	T	43917540	3	4	152	1	0	0	0	0	1	0	0	0	17023	864	30	3	1277	3	URGCP	7	43917540	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	5101214	43917540	115221123	49	10315											
POM121L12	285877	broad.mit.edu	37	7	53103790	53103790	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:53103790G>A	uc003tpz.3	+	0	442	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	142								p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCGGGATCGCGCCCCCTGAGC	0.721													A	53103790	G	A	53103790	2	1	152	1	0	0	0	0	0	0	0	1	12241	1074	38	1		1	POM121L12	7	53103790	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	9186250	53103790	106034873	50	10316											
POM121L12	285877	broad.mit.edu	37	7	53103915	53103915	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:53103915A>T	uc003tpz.3	+	0	567	c.551A>T	c.(550-552)cAg>cTg	p.Q184L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	184								p.Q184H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTCAGCCAGTGCCCCAAG	0.711													T	53103915	A	T	53103915	3	4	152	1	0	0	0	0	1	0	0	0	12241	188	7	5	553	5	POM121L12	7	53103915	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	125	53103915	106034748	51	10317											
DUS4L	11062	broad.mit.edu	37	7	107217955	107217955	+	Missense_Mutation	SNP	T	T	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:107217955T>G	uc003veh.3	+	7	1237	c.904T>G	c.(904-906)Tca>Gca	p.S302A	DUS4L_uc011klw.2_Non-coding_Transcript|DUS4L_uc011klx.2_Missense_Mutation_p.S181A|DUS4L_uc022ajw.1_Missense_Mutation_p.S181A|DUS4L_uc010ljl.3_Missense_Mutation_p.S212A|BCAP29_uc003vej.2_5'Flank|BCAP29_uc011kly.1_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.	302					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TAATGCTCTGTCAAGCACATC	0.353													G	107217955	T	G	107217955	3	3	152	1	0	0	0	0	1	0	0	0	4808	1667	58	5	926	5	DUS4L	7	107217955	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	54114040	107217955	51920708	52	10318											
TES	26136	broad.mit.edu	37	7	115889257	115889257	+	Silent	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:115889257T>A	uc003vho.3	+	2	512	c.297T>A	c.(295-297)gcT>gcA	p.A99A	TES_uc011kmx.2_Silent_p.A99A|TES_uc011kmy.2_Intron|TES_uc010lka.2_Silent_p.A90A|TES_uc003vhp.3_Silent_p.A90A|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	99	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATCCAGTTGCTGCCAAGAAGA	0.383													A	115889257	T	A	115889257	2	1	152	1	0	0	0	0	0	0	0	1	15762	1567	55	5		5	TES	7	115889257	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	8671302	115889257	43249406	53	10319											
GRM8	2918	broad.mit.edu	37	7	126542691	126542691	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:126542691C>T	uc003vlr.2	-	4	1372	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R354Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R75Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	354					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CACATTTCTTCGATTATTGGC	0.348										HNSCC(24;0.065)			T	126542691	C	T	126542691	3	4	152	1	0	0	0	0	1	0	0	0	6803	884	31	2	1739	2	GRM8	7	126542691	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	10653434	126542691	32595972	54	10320											
AGAP3	116988	broad.mit.edu	37	7	150840450	150840450	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:150840450C>T	uc003wjg.1	+	16	2299	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	730					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGCTGGATACGGGCCAAGTA	0.622													T	150840450	C	T	150840450	3	4	152	1	0	0	0	0	1	0	0	0	369	527	19	1	2429	1	AGAP3	7	150840450	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	24297759	150840450	8298213	55	10321											
CLVS1	157807	broad.mit.edu	37	8	62212806	62212806	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr8:62212806T>C	uc003xuh.3	+	1	744	c.420T>C	c.(418-420)atT>atC	p.I140I	CLVS1_uc003xug.2_Silent_p.I140I|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	140	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCAGGAAGATTCTTTTGCTGT	0.448													C	62212806	T	C	62212806	2	2	152	1	0	0	0	0	0	0	0	1	3571	1771	62	4		4	CLVS1	8	62212806	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08		62212806	84151216	56	10322											
LAMC3	10319	broad.mit.edu	37	9	133948659	133948659	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr9:133948659C>T	uc004caa.1	+	19	3543	c.3445C>T	c.(3445-3447)Ccg>Tcg	p.P1149S		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1149	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCCCAGTCAGCCGACCAAATG	0.582													T	133948659	C	T	133948659	3	4	152	1	0	0	0	0	1	0	0	0	8616	739	26	3	3523	3	LAMC3	9	133948659	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		133948659	7264772	57	10323											
KCNT1	57582	broad.mit.edu	37	9	138657034	138657034	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr9:138657034G>A	uc011mdq.2	+	11	1267	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	KCNT1_uc011mdr.2_Missense_Mutation_p.R225Q|KCNT1_uc010nbf.3_Missense_Mutation_p.R353Q|KCNT1_uc004cgo.1_Missense_Mutation_p.R147Q	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	398						membrane	binding|calcium-activated potassium channel activity	p.P397T(1)|p.R398R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCCACCCCCGGCTCCAGGTG	0.642													A	138657034	G	A	138657034	3	1	152	1	0	0	0	0	1	0	0	0	8091	1116	39	2	1239	2	KCNT1	9	138657034	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	4708375	138657034	2556397	58	10324											
KIAA1462	57608	broad.mit.edu	37	10	30315264	30315264	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:30315264C>T	uc009xle.2	-	2	3950	c.3813G>A	c.(3811-3813)atG>atA	p.M1271I	KIAA1462_uc001iux.3_Missense_Mutation_p.M1271I|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.M1133I	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1271								p.R1270W(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						TCAGGACTCTCATCCGTGACA	0.582													T	30315264	C	T	30315264	3	4	152	1	0	0	0	0	1	0	0	0	8234	826	29	3	274	3	KIAA1462	10	30315264	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		30315264	105219483	59	10325											
RET	5979	broad.mit.edu	37	10	43604497	43604497	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:43604497A>T	uc001jal.3	+	5	1272	c.1082A>T	c.(1081-1083)aAc>aTc	p.N361I	RET_uc001jak.1_Missense_Mutation_p.N361I|RET_uc010qez.1_Missense_Mutation_p.N107I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	361					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.R360W(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)	CTCAACCGGAACCTCTCCATC	0.597		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				T	43604497	A	T	43604497	3	4	152	1	0	0	0	0	1	0	0	0	13235	43	2	5	1104	5	RET	10	43604497	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	13289233	43604497	91930250	60	10326											
GPRIN2	9721	broad.mit.edu	37	10	47000008	47000008	+	Silent	SNP	G	G	A	rs111800394		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:47000008G>A	uc001jec.3	+	2	1263	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	GPRIN2_uc021ppt.1_Silent_p.P376P	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	376										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGAGGTGCCGTCCCCTGTGC	0.657													A	47000008	G	A	47000008	2	1	152	1	0	0	0	0	0	0	0	1	6730	1132	40	1		1	GPRIN2	10	47000008	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	3395511	47000008	88534739	61	10327											
ATRNL1	26033	broad.mit.edu	37	10	117061475	117061475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:117061475C>T	uc001lcg.3	+	16	3126	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	ATRNL1_uc010qsm.2_Nonsense_Mutation_p.R89*|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	914	PSI 4.					integral to membrane	sugar binding	p.R914*(2)|p.R914Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTACGAAACGATGTGTTGA	0.453													T	117061475	C	T	117061475	4	4	152	1	0	0	0	0	0	1	0	0	1207	528	19	1	2806	1	ATRNL1	10	117061475	Nonsense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	70061467	117061475	18473272	62	10328											
TSPAN4	7106	broad.mit.edu	37	11	866600	866600	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:866600A>G	uc001lsd.1	+	8	896	c.687A>G	c.(685-687)caA>caG	p.Q229Q	TSPAN4_uc001lse.1_Silent_p.Q165Q|TSPAN4_uc001lsf.1_Silent_p.Q229Q|TSPAN4_uc001lsg.1_Silent_p.Q229Q|TSPAN4_uc001lsh.1_Silent_p.Q229Q|TSPAN4_uc001lsi.1_Silent_p.Q229Q|TSPAN4_uc001lsj.1_Silent_p.Q229Q	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	229					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTGCCAAGTGGTCAAGG	0.642													G	866600	A	G	866600	2	3	152	1	0	0	0	0	0	0	0	1	16646	69	3	4		4	TSPAN4	11	866600	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08		866600	134139916	63	10329											
OR51S1	119692	broad.mit.edu	37	11	4870245	4870245	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:4870245C>T	uc010qyo.2	-	0	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R65H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCATTGGGCGGTGCAGGGC	0.572													T	4870245	C	T	4870245	3	4	152	1	0	0	0	0	1	0	0	0	11105	768	27	1	780	1	OR51S1	11	4870245	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	4003645	4870245	130136271	64	10330											
RCN1	5954	broad.mit.edu	37	11	32119964	32119964	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:32119964A>G	uc010reb.2	+	2	783	c.517A>G	c.(517-519)Aga>Gga	p.R173G	RCN1_uc021qfp.1_Missense_Mutation_p.R7G|RCN1_uc001mtk.3_Missense_Mutation_p.R7G	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	173	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					ACGTGATGAGAGAAGATTCAA	0.433													G	32119964	A	G	32119964	3	3	152	1	0	0	0	0	1	0	0	0	13179	296	11	4	527	4	RCN1	11	32119964	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	27249719	32119964	102886552	65	10331											
OR4C16	219428	broad.mit.edu	37	11	55340233	55340233	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:55340233C>T	uc010rih.2	+	0	630	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TGAGTTATGTCATGCTAATAT	0.433													T	55340233	C	T	55340233	2	4	152	1	0	0	0	0	0	0	0	1	11049	813	29	3		3	OR4C16	11	55340233	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	23220269	55340233	79666283	66	10332											
OR5D18	219438	broad.mit.edu	37	11	55587827	55587827	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:55587827C>A	uc010rin.2	+	0	722	c.722C>A	c.(721-723)aCc>aAc	p.T241N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T241N(2)		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)				GCCTTCTCCACCTGTGCCTCC	0.507													A	55587827	C	A	55587827	3	1	152	1	0	0	0	0	1	0	0	0	11157	507	18	5	724	5	OR5D18	11	55587827	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	247594	55587827	79418689	67	10333											
LPXN	9404	broad.mit.edu	37	11	58295179	58295179	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:58295179A>G	uc001nmw.3	-	8	1054	c.909T>C	c.(907-909)ttT>ttC	p.F303F	LPXN_uc009ymp.3_Silent_p.F173F|LPXN_uc010rkj.2_Silent_p.F308F|LPXN_uc010rkk.2_Silent_p.F283F	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	303	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGCCAGTAGAAAAACTGGTGA	0.473													G	58295179	A	G	58295179	2	3	152	1	0	0	0	0	0	0	0	1	8929	11	1	4		4	LPXN	11	58295179	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	2707352	58295179	76711337	68	10334											
TYR	7299	broad.mit.edu	37	11	88911588	88911588	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:88911588A>G	uc001pcs.3	+	0	549	c.467A>G	c.(466-468)tAt>tGt	p.Y156C		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	156					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ATAGGGACCTATGGCCAAATG	0.408													G	88911588	A	G	88911588	3	3	152	1	0	0	0	0	1	0	0	0	16810	449	16	4	469	4	TYR	11	88911588	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	30616409	88911588	46094928	69	10335											
FAT3	120114	broad.mit.edu	37	11	92577445	92577445	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:92577445G>C	uc001pdj.4	+	17	10929	c.10912G>C	c.(10912-10914)Gag>Cag	p.E3638Q	FAT3_uc001pdi.4_Missense_Mutation_p.E78Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3638	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				CGTGCATGTGGAGCAGTTGGT	0.557										TCGA Ovarian(4;0.039)			C	92577445	G	C	92577445	3	2	152	1	0	0	0	0	1	0	0	0	5691	1175	41	5	10982	5	FAT3	11	92577445	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	3665857	92577445	42429071	70	10336											
OR10G8	219869	broad.mit.edu	37	11	123901051	123901051	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:123901051C>G	uc001pzp.1	+	0	722	c.722C>G	c.(721-723)gCc>gGc	p.A241G		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAGACCTGTGCCTCCCACTGT	0.547													G	123901051	C	G	123901051	3	3	152	1	0	0	0	0	1	0	0	0	10903	739	26	5	724	5	OR10G8	11	123901051	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	31323606	123901051	11105465	71	10337											
CACNA1C	775	broad.mit.edu	37	12	2675631	2675631	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:2675631C>T	uc009zdu.1	+	11	1865	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	CACNA1C_uc001qkc.2_Missense_Mutation_p.R518C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518C|CACNA1C_uc001qke.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R518C|CACNA1C_uc001qko.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518C|CACNA1C_uc001qku.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518C|CACNA1C_uc001qks.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R515C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518C|CACNA1C_uc001qka.1_Missense_Mutation_p.R53C|CACNA1C_uc001qki.1_Missense_Mutation_p.R254C|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183C|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	518					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			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)	AAGGAAGTGCCGCGCCGCAGT	0.562													T	2675631	C	T	2675631	3	4	152	1	0	0	0	0	1	0	0	0	2540	652	23	2	1706	2	CACNA1C	12	2675631	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		2675631	131176264	72	10338											
CREBL2	1389	broad.mit.edu	37	12	12765120	12765120	+	Missense_Mutation	SNP	A	A	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:12765120A>C	uc001rap.1	+	1	291	c.15_splice	c.e1+1	p.K5_splice		NM_001310	NP_001301	O60519	CRBL2_HUMAN	Homo sapiens cAMP responsive element binding protein-like 2 (CREBL2), mRNA.	5					cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		GATGACAGTAAGGTAAGTCTT	0.677													C	12765120	A	C	12765120	3	2	152	1	0	0	0	0	1	0	0	0	3862	86	3	5	16	5	CREBL2	12	12765120	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	10089489	12765120	121086775	73	10339											
CNTN1	1272	broad.mit.edu	37	12	41410534	41410534	+	Silent	SNP	A	A	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:41410534A>T	uc001rmm.1	+	18	2348	c.2235A>T	c.(2233-2235)gcA>gcT	p.A745A	CNTN1_uc001rmn.1_Silent_p.A734A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	745	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACATAGTGGCATTTAAGCCAT	0.368													T	41410534	A	T	41410534	2	4	152	1	0	0	0	0	0	0	0	1	3640	204	8	5		5	CNTN1	12	41410534	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	28645414	41410534	92441361	74	10340											
SRGAP1	57522	broad.mit.edu	37	12	64491111	64491111	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:64491111C>T	uc010ssp.1	+	14	1825	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	SRGAP1_uc001srv.2_Missense_Mutation_p.P527L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	590	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTGGAAAACCCCCTCTTTCCT	0.378													T	64491111	C	T	64491111	3	4	152	1	0	0	0	0	1	0	0	0	15144	623	22	3	1827	3	SRGAP1	12	64491111	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	23080577	64491111	69360784	75	10341											
PTPRB	5787	broad.mit.edu	37	12	70949684	70949684	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:70949684C>T	uc001swb.4	-	16	4335	c.4305G>A	c.(4303-4305)gaG>gaA	p.E1435E	PTPRB_uc010sto.2_Silent_p.E1345E|PTPRB_uc010stp.2_Silent_p.E1345E|PTPRB_uc001swc.4_Silent_p.E1653E|PTPRB_uc001swa.4_Silent_p.E1565E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1435	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTCAACCACCTCGCTGGTCA	0.527													T	70949684	C	T	70949684	2	4	152	1	0	0	0	0	0	0	0	1	12796	680	24	3		3	PTPRB	12	70949684	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	6458573	70949684	62902211	76	10342											
PABPC3	5042	broad.mit.edu	37	13	25671682	25671682	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:25671682G>A	uc001upy.3	+	0	1407	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	449					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGCTATCCGCCCAGGTGCT	0.502													A	25671682	G	A	25671682	3	1	152	1	0	0	0	0	1	0	0	0	11365	1087	38	1	1348	1	PABPC3	13	25671682	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		25671682	89498196	77	10343											
ATP8A2	51761	broad.mit.edu	37	13	26273468	26273468	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:26273468C>T	uc001uqk.3	+	24	2511	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	ATP8A2_uc010tdi.2_Missense_Mutation_p.A750V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.A340V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	750					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			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)		TCGTGCAAAGCGGTCATATGC	0.522													T	26273468	C	T	26273468	3	4	152	1	0	0	0	0	1	0	0	0	1193	768	27	1	2467	1	ATP8A2	13	26273468	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	601786	26273468	88896410	78	10344											
RNASEH2B	79621	broad.mit.edu	37	13	51530575	51530575	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:51530575G>C	uc001vfa.4	+	10	1303	c.904G>C	c.(904-906)Ggg>Cgg	p.G302R	RNASEH2B_uc001vfb.4_Intron	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	302					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		TACCTTTTTTGGGGTAAAAAA	0.299													C	51530575	G	C	51530575	3	2	152	1	0	0	0	0	1	0	0	0	13413	1348	47	5	946	5	RNASEH2B	13	51530575	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	25257107	51530575	63639303	79	10345											
PCDH20	64881	broad.mit.edu	37	13	61985658	61985658	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:61985658T>C	uc001vid.4	-	1	2938	c.2574A>G	c.(2572-2574)agA>agG	p.R858R	PCDH20_uc010thj.2_Silent_p.R858R	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	831					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S858C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGGTTCTTTTCTTAAAAGAC	0.408													C	61985658	T	C	61985658	2	2	152	1	0	0	0	0	0	0	0	1	11515	1780	62	4		4	PCDH20	13	61985658	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	10455083	61985658	53184220	80	10346											
MYO16	23026	broad.mit.edu	37	13	109859100	109859100	+	Silent	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:109859100T>C	uc010agk.2	+	34	6181	c.5559T>C	c.(5557-5559)ccT>ccC	p.P1853P	MYO16_uc001vqt.1_Silent_p.P1831P	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1831					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCCACCACCTTGCAAGAAGC	0.597													C	109859100	T	C	109859100	2	2	152	1	0	0	0	0	0	0	0	1	10064	1596	56	4		4	MYO16	13	109859100	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	47873442	109859100	5310778	81	10347											
FKBP3	2287	broad.mit.edu	37	14	45587256	45587256	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr14:45587256C>T	uc010tqf.2	-	5	945	c.595G>A	c.(595-597)Gga>Aga	p.G199R		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	199	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CCTTTCTTTCCGTAAGCCCAT	0.378													T	45587256	C	T	45587256	3	4	152	1	0	0	0	0	1	0	0	0	5909	661	23	2	87	2	FKBP3	14	45587256	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		45587256	61762284	82	10348											
SPINT1	6692	broad.mit.edu	37	15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:41146113C>T	uc001zna.3	+	4	1151	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	316						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													T	41146113	C	T	41146113	3	4	152	1	0	0	0	0	1	0	0	0	15067	768	27	1	961	1	SPINT1	15	41146113	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		41146113	61385279	83	10349											
PLA2G4D	283748	broad.mit.edu	37	15	42364081	42364081	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:42364081G>A	uc001zox.3	-	14	1559	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	488	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCAGGAAACCGACCTCATAGG	0.607													A	42364081	G	A	42364081	2	1	152	1	0	0	0	0	0	0	0	1	12004	1045	37	2		2	PLA2G4D	15	42364081	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	1217968	42364081	60167311	84	10350											
ATP8B4	79895	broad.mit.edu	37	15	50211036	50211036	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:50211036C>A	uc001zxu.3	-	19	2177	c.2035_splice	c.e19+1	p.E679_splice	ATP8B4_uc010ber.3_Splice_Site_p.E552_splice|ATP8B4_uc010ufd.2_Splice_Site_p.E489_splice|ATP8B4_uc010ufe.2_Splice_Site	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	679					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCAAGTTACCTTGTTTGTCT	0.318													A	50211036	C	A	50211036	4	1	152	1	0	0	0	0	0	1	0	0	1197	695	24	5	1583	5	ATP8B4	15	50211036	Nonsense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	7846955	50211036	52320356	85	10351											
ADAM10	102	broad.mit.edu	37	15	58925426	58925426	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:58925426G>A	uc002afd.1	-	8	1589	c.1145C>T	c.(1144-1146)gCt>gTt	p.A382V	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.A81V|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	382	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AACTTCGTGAGCAAAAGTAAT	0.328													A	58925426	G	A	58925426	3	1	152	1	0	0	0	0	1	0	0	0	234	971	34	3	1133	3	ADAM10	15	58925426	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	8714390	58925426	43605966	86	10352											
TMEM202	338949	broad.mit.edu	37	15	72700088	72700088	+	Missense_Mutation	SNP	G	G	A	rs143076809		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:72700088G>A	uc002auq.3	+	4	676	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	226						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGATGAAAACGTCACTGTGAT	0.478													A	72700088	G	A	72700088	3	1	152	1	0	0	0	0	1	0	0	0	16124	1145	40	1	694	1	TMEM202	15	72700088	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	13774662	72700088	29831304	87	10353											
SCAMP5	192683	broad.mit.edu	37	15	75305137	75305137	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:75305137C>T	uc002azn.2	+	2	314	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	SCAMP5_uc002azl.2_Missense_Mutation_p.L43F|SCAMP5_uc002azm.2_Missense_Mutation_p.L43F|SCAMP5_uc002azk.2_Missense_Mutation_p.L43F|SCAMP5_uc010uly.2_Missense_Mutation_p.P24L	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	43					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CCTCTACTACCTCTGGATGTG	0.607													T	75305137	C	T	75305137	3	4	152	1	0	0	0	0	1	0	0	0	13874	681	24	3	133	3	SCAMP5	15	75305137	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	2605049	75305137	27226255	88	10354											
CORO1A	11151	broad.mit.edu	37	16	30198720	30198720	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:30198720C>T	uc010bzq.3	+	6	1089	c.654C>T	c.(652-654)caC>caT	p.H218H	BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.H218H|CORO1A_uc002dwx.3_Silent_p.H112H|CORO1A_uc002dwy.1_Silent_p.H62H|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	218					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACCGTCCCCACGAGGGGACCC	0.667													T	30198720	C	T	30198720	2	4	152	1	0	0	0	0	0	0	0	1	3753	535	19	1		1	CORO1A	16	30198720	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08		30198720	60156033	89	10355											
ARMC5	79798	broad.mit.edu	37	16	31471307	31471307	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:31471307C>T	uc010vfn.2	+	2	871	c.747C>T	c.(745-747)ggC>ggT	p.G249G	ARMC5_uc010vfo.2_Silent_p.G186G|ARMC5_uc002ecc.3_Silent_p.G154G|ARMC5_uc002eca.4_Silent_p.G154G|ARMC5_uc002ecb.2_Silent_p.G154G|ARMC5_uc010vfp.2_Silent_p.G154G	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	154							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GACTCGGAGGCATACTCCCTT	0.597													T	31471307	C	T	31471307	2	4	152	1	0	0	0	0	0	0	0	1	954	697	25	3		3	ARMC5	16	31471307	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	1272587	31471307	58883446	90	10356											
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:7578268A>C	uc002gim.2	-	5	775	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_uc002gig.1_Missense_Mutation_p.L194R|TP53_uc002gih.3_Missense_Mutation_p.L194R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.L62R|TP53_uc010cnf.1_Missense_Mutation_p.L62R|TP53_uc002gii.1_Missense_Mutation_p.L62R|TP53_uc010cni.1_Missense_Mutation_p.L194R|TP53_uc010cnh.1_Missense_Mutation_p.L194R|TP53_uc002gij.2_Missense_Mutation_p.L194R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101R|TP53_uc002gio.2_Missense_Mutation_p.L62R|TP53_uc010vug.2_Missense_Mutation_p.L155R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> 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.L194R(84)|p.H193R(72)|p.H193L(35)|p.H193Y(27)|p.L194F(18)|p.L194P(16)|p.L194H(14)|p.H193P(14)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.H193N(4)|p.P191_E198>Q(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.L194fs*14(2)|p.L194fs*52(2)|p.H193H(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.L101H(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.L194I(1)|p.I195fs*52(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)		CACTCGGATAAGATGCTGAGG	0.552		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)			C	7578268	A	C	7578268	3	2	152	1	0	0	0	0	1	0	0	0	16378	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08		7578268	73616942	91	10357											
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:7578542G>A	uc002gim.2	-	4	582	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.3_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91F	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> 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.L130F(26)|p.L130V(22)|p.Y126_K132delYSPALNK(12)|p.0?(8)|p.L130R(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130H(4)|p.L130fs*19(4)|p.L37F(3)|p.L130fs*41(3)|p.S127_Q136del10(2)|p.A129_L130insXX(2)|p.A129_N131delALN(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.L130fs*40(2)|p.Y126fs*11(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.N131fs*27(1)|p.A129G(1)|p.A129D(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(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)		ATCTTGTTGAGGGCAGGGGAG	0.552		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)			A	7578542	G	A	7578542	3	1	152	1	0	0	0	0	1	0	0	0	16378	1000	35	3	910	3	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	274	7578542	73616668	92	10358											
RCVRN	5957	broad.mit.edu	37	17	9808118	9808118	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:9808118A>G	uc002gme.1	-	1	568	c.381_splice	c.e1+1	p.M127_splice		NM_002903	NP_002894	P35243	RECO_HUMAN	Homo sapiens recoverin (RCVRN), mRNA.	127	EF-hand 3.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GAGACTGACCATGACGATCTC	0.642													G	9808118	A	G	9808118	3	3	152	1	0	0	0	0	1	0	0	0	13186	231	8	4	234	4	RCVRN	17	9808118	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	2229576	9808118	71387092	93	10359											
MYH4	4622	broad.mit.edu	37	17	10358321	10358321	+	Missense_Mutation	SNP	C	C	T	rs144778193	by1000genomes	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:10358321C>T	uc002gmn.3	-	20	2483	c.2372G>A	c.(2371-2373)cGc>cAc	p.R791H	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	791	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R791H(2)|p.T790M(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGCTTGAGTGCGCGTGATGAG	0.463													T	10358321	C	T	10358321	3	4	152	1	0	0	0	0	1	0	0	0	10037	768	27	1	3527	1	MYH4	17	10358321	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	550203	10358321	70836889	94	10360											
MYH1	4619	broad.mit.edu	37	17	10419368	10419368	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:10419368T>A	uc002gmo.3	-	4	474	c.380A>T	c.(379-381)aAc>aTc	p.N127I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	127	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.V126I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTGTAGGGGTTGACAGTGAC	0.488													A	10419368	T	A	10419368	3	1	152	1	0	0	0	0	1	0	0	0	10029	1725	60	5	5583	5	MYH1	17	10419368	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	61047	10419368	70775842	95	10361											
ERBB2	2064	broad.mit.edu	37	17	37866667	37866667	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:37866667G>A	uc002hso.3	+	6	1072	c.834G>A	c.(832-834)acG>acA	p.T278T	ERBB2_uc010cwa.3_Silent_p.T263T|ERBB2_uc002hsm.3_Silent_p.T248T|ERBB2_uc002hsp.3_Silent_p.T81T|ERBB2_uc010cwb.3_Silent_p.T278T|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Silent_p.T248T|ERBB2_uc002hsn.1_Silent_p.T278T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	278					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACACAGACACGTTTGAGTCCA	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			A	37866667	G	A	37866667	2	1	152	1	0	0	0	0	0	0	0	1	5206	1132	40	1		1	ERBB2	17	37866667	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	27447299	37866667	43328543	96	10362											
DNAH17	8632	broad.mit.edu	37	17	76457727	76457727	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:76457727C>T	uc010dhp.2	-	57	9363	c.9238G>A	c.(9238-9240)Gca>Aca	p.A3080T	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTTGGTCTGCGCTCTCATTC	0.527													T	76457727	C	T	76457727	3	4	152	1	0	0	0	0	1	0	0	0	4601	768	27	1	4246	1	DNAH17	17	76457727	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	38591060	76457727	4737483	97	10363											
DSG3	1830	broad.mit.edu	37	18	29046572	29046572	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:29046572C>T	uc002kws.3	+	10	1600	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	497	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCTGTCCTCGAAAAAGATG	0.418													T	29046572	C	T	29046572	2	4	152	1	0	0	0	0	0	0	0	1	4778	871	31	2		2	DSG3	18	29046572	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08		29046572	49030676	98	10364											
DSG3	1830	broad.mit.edu	37	18	29055684	29055684	+	Missense_Mutation	SNP	G	G	A	rs148716637		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:29055684G>A	uc002kws.3	+	15	2570	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T	DSG3_uc002kwt.3_Missense_Mutation_p.A103T	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	821					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAATGAAGGCGCAGATGCCAC	0.468													A	29055684	G	A	29055684	3	1	152	1	0	0	0	0	1	0	0	0	4778	1087	38	1	2523	1	DSG3	18	29055684	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	9112	29055684	49021564	99	10365											
SERPINB12	89777	broad.mit.edu	37	18	61232706	61232706	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:61232706C>T	uc010xeo.2	+	5	734	c.734C>T	c.(733-735)aCg>aTg	p.T245M	SERPINB12_uc010xen.2_Missense_Mutation_p.T225M	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	225					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.T225M(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAGATGATGACGCAAAAAGGC	0.488													T	61232706	C	T	61232706	3	4	152	1	0	0	0	0	1	0	0	0	14099	536	19	1	696	1	SERPINB12	18	61232706	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	32177022	61232706	16844542	100	10366											
VMAC	400673	broad.mit.edu	37	19	5909016	5909016	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:5909016G>A	uc002mds.4	+	1	423	c.373G>A	c.(373-375)Gag>Aag	p.E125K		NM_001017921	NP_001017921	Q2NL98	VMAC_HUMAN	Homo sapiens vimentin-type intermediate filament associated coiled-coil protein (VMAC), mRNA.	125						cytoplasm				lung(1)	1						GGCTGAGGCTGAGCGCCTGGG	0.721													A	5909016	G	A	5909016	3	1	152	1	0	0	0	0	1	0	0	0	17173	1291	45	3	379	3	VMAC	19	5909016	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		5909016	53219967	101	10367											
MUC16	94025	broad.mit.edu	37	19	8966765	8966765	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:8966765C>T	uc002mkp.3	-	80	43392	c.43188G>A	c.(43186-43188)tcG>tcA	p.S14396S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S1196S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14494				Missing (in Ref. 3; AAK74120).	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						GAGCCAGTGGCGAGAAGTTAC	0.527													T	8966765	C	T	8966765	2	4	152	1	0	0	0	0	0	0	0	1	9973	755	27	1		1	MUC16	19	8966765	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	3057749	8966765	50162218	102	10368											
MUC16	94025	broad.mit.edu	37	19	9057573	9057573	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:9057573G>A	uc002mkp.3	-	2	30077	c.29873C>T	c.(29872-29874)aCc>aTc	p.T9958I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9960	Ser-rich.|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						ACTTTTTTGGGTGGTGATGGT	0.488													A	9057573	G	A	9057573	3	1	152	1	0	0	0	0	1	0	0	0	9973	1261	44	3	13978	3	MUC16	19	9057573	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	90808	9057573	50071410	103	10369											
ZNF443	10224	broad.mit.edu	37	19	12543219	12543219	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:12543219G>T	uc002mtu.3	-	2	361	c.163C>A	c.(163-165)Caa>Aaa	p.Q55K		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	55	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATCTATATTGATCTTCAATG	0.294													T	12543219	G	T	12543219	3	4	152	1	0	0	0	0	1	0	0	0	17913	1299	45	5	1860	5	ZNF443	19	12543219	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	3485646	12543219	46585764	104	10370											
OR7A17	26333	broad.mit.edu	37	19	14991689	14991689	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:14991689C>A	uc010xob.2	-	0	479	c.479G>T	c.(478-480)aGc>aTc	p.S160I		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TACCATTAAGCTTTGTGACAA	0.483													A	14991689	C	A	14991689	3	1	152	1	0	0	0	0	1	0	0	0	11215	797	28	5	452	5	OR7A17	19	14991689	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	2448470	14991689	44137294	105	10371											
ZNF208	7757	broad.mit.edu	37	19	22155210	22155210	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:22155210G>T	uc021urr.1	-	3	2775	c.2626C>A	c.(2626-2628)Ctt>Att	p.L876I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									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	0.363													T	22155210	G	T	22155210	3	4	152	1	0	0	0	0	1	0	0	0	17763	1000	35	5	1220	5	ZNF208	19	22155210	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	7163521	22155210	36973773	106	10372											
MAG	4099	broad.mit.edu	37	19	35801000	35801000	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:35801000C>T	uc002nyy.2	+	7	1653	c.1455C>T	c.(1453-1455)cgC>cgT	p.R485R	MAG_uc002nyx.2_Silent_p.R485R|MAG_uc010eds.2_Silent_p.R460R|MAG_uc002nyz.2_Silent_p.R485R	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	485	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCGCCCCGCGTCATCTGCA	0.697													T	35801000	C	T	35801000	2	4	152	1	0	0	0	0	0	0	0	1	9162	755	27	1		1	MAG	19	35801000	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	13645790	35801000	23327983	107	10373											
CGB8	94027	broad.mit.edu	37	19	49557640	49557640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:49557640G>A	uc002pmd.3	-	2	1626	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Nonsense_Mutation_p.Q136*	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	136					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GAGGAGGCCTGGAAGCGGGGG	0.647													A	49557640	G	A	49557640	4	1	152	1	0	0	0	0	0	1	0	0	3301	1357	47	3		3	CGB8	19	49557640	Nonsense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	13756640	49557640	9571343	108	10374											
ZNF28	7576	broad.mit.edu	37	19	53304049	53304049	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:53304049G>T	uc002qad.3	-	3	1206	c.1049C>A	c.(1048-1050)aCt>aAt	p.T350N	ZNF28_uc002qac.3_Missense_Mutation_p.T296N|ZNF28_uc010eqe.3_Missense_Mutation_p.T296N|ZNF28_uc021uza.1_Missense_Mutation_p.T297N	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCCAGTGTGAATTAT	0.373													T	53304049	G	T	53304049	3	4	152	1	0	0	0	0	1	0	0	0	17810	1029	36	5	1111	5	ZNF28	19	53304049	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	3746409	53304049	5824934	109	10375											
NLRP7	199713	broad.mit.edu	37	19	55451268	55451268	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:55451268T>C	uc002qih.4	-	3	995	c.919A>G	c.(919-921)Agg>Ggg	p.R307G	NLRP7_uc010esk.3_Missense_Mutation_p.R307G|NLRP7_uc002qig.4_Missense_Mutation_p.R307G|NLRP7_uc002qii.4_Missense_Mutation_p.R307G|NLRP7_uc010esl.3_Missense_Mutation_p.R335G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	307	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAGGTCCCTCAGTGCCCTG	0.617													C	55451268	T	C	55451268	3	2	152	1	0	0	0	0	1	0	0	0	10482	1550	54	4	2226	4	NLRP7	19	55451268	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	2147219	55451268	3677715	110	10376											
NLRP5	126206	broad.mit.edu	37	19	56549462	56549462	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:56549462T>C	uc002qmj.3	+	9	2687	c.2687T>C	c.(2686-2688)cTg>cCg	p.L896P	NLRP5_uc002qmi.3_Missense_Mutation_p.L877P	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	896						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCCCAGCCTGAAATCTCTG	0.547													C	56549462	T	C	56549462	3	2	152	1	0	0	0	0	1	0	0	0	10480	1580	55	4	2725	4	NLRP5	19	56549462	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	1098194	56549462	2579521	111	10377											
CBFA2T2	9139	broad.mit.edu	37	20	32232172	32232172	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:32232172G>A	uc002wzg.1	+	11	2072	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	CBFA2T2_uc010zug.1_Missense_Mutation_p.R286H|CBFA2T2_uc002wze.1_Missense_Mutation_p.R503H|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.R483H|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Missense_Mutation_p.R60H	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	512						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AACTGTGGCCGCAAAGCCAGC	0.572													A	32232172	G	A	32232172	3	1	152	1	0	0	0	0	1	0	0	0	2697	1087	38	1	1615	1	CBFA2T2	20	32232172	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		32232172	30793348	112	10378											
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	by1000genomes	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:51870661G>A	uc002xwo.3	+	1	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(2)|p.A222V(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)			ACAGTGCAGCGCGGCCTATGA	0.562													A	51870661	G	A	51870661	3	1	152	1	0	0	0	0	1	0	0	0	16621	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	19638489	51870661	11154859	113	10379											
GRIK1	2897	broad.mit.edu	37	21	30949385	30949385	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr21:30949385C>G	uc002yno.1	-	13	2493	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	GRIK1_uc002ynn.3_Missense_Mutation_p.E662Q|GRIK1_uc011acs.2_Missense_Mutation_p.E677Q|GRIK1_uc011act.2_Missense_Mutation_p.E538Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	677					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCCATTCTCTCTACTGTCAAG	0.448													G	30949385	C	G	30949385	3	3	152	1	0	0	0	0	1	0	0	0	6773	922	32	5	903	5	GRIK1	21	30949385	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		30949385	17180510	114	10380											
ACE2	59272	broad.mit.edu	37	X	15582159	15582159	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:15582159C>T	uc004cxa.1	-	16	2465	c.2297G>A	c.(2296-2298)aGa>aAa	p.R766K	ACE2_uc004cxb.2_Missense_Mutation_p.R766K	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	766					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CTTCCGATCTCTGATCCCAGT	0.413													T	15582159	C	T	15582159	3	4	152	1	0	0	0	0	1	0	0	0	137	913	32	3	128	3	ACE2	23	15582159	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		15582159	139688401	115	10381											
RS1	6247	broad.mit.edu	37	X	18690198	18690198	+	Translation_Start_Site	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:18690198G>A	uc004cyo.3	-	0						NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.						cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TCTTCCCCTCGTCCTCGGCCA	0.443													A	18690198	G	A	18690198	1	1	152	1	0	0	0	0	0	0	0	0	13693	1160	40	1		1	RS1	23	18690198	Translation_Start_Site	SNP	G	TCGA-19-1390-01A-01D-1495-08	3108039	18690198	136580362	116	10382											
KLHL34	257240	broad.mit.edu	37	X	21674007	21674007	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:21674007C>T	uc004czz.1	-	0	2442	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	JA611288_uc022btu.1_5'Flank	NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	634										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TCTCCAACCTCTCCCTCCCTC	0.637													T	21674007	C	T	21674007	3	4	152	1	0	0	0	0	1	0	0	0	8387	922	32	3	38	3	KLHL34	23	21674007	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	2983809	21674007	133596553	117	10383											
BCOR	54880	broad.mit.edu	37	X	39932304	39932304	+	Silent	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:39932304G>A	uc004den.4	-	3	2587	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	BCOR_uc004dep.4_Silent_p.S765S|BCOR_uc004deo.4_Silent_p.S765S|BCOR_uc004dem.4_Silent_p.S765S|BCOR_uc004deq.4_Silent_p.S765S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	765					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAAAATCTCGGAAAACCGAT	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39932304	G	A	39932304	2	1	152	1	0	0	0	0	0	0	0	1	1386	1103	39	2		2	BCOR	23	39932304	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	18258297	39932304	115338256	118	10384											
BMP15	9210	broad.mit.edu	37	X	50653945	50653945	+	Silent	SNP	C	C	T	rs149633402		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:50653945C>T	uc011mnw.2	+	0	211	c.162C>T	c.(160-162)ggC>ggT	p.G54G		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	54					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCCCCTGGCGAACAGCCAA	0.592													T	50653945	C	T	50653945	2	4	152	1	0	0	0	0	0	0	0	1	1458	755	27	1		1	BMP15	23	50653945	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	10721641	50653945	104616615	119	10385											
KDM5C	8242	broad.mit.edu	37	X	53230914	53230914	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:53230914G>A	uc004drz.3	-	13	2412	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	KDM5C_uc022bxe.1_Missense_Mutation_p.R560C|KDM5C_uc004dsa.3_Missense_Mutation_p.R626C	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	627	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATGCACTGGCGCCCAGCAGGC	0.587			"N, F, S"		clear cell renal carcinoma								A	53230914	G	A	53230914	3	1	152	1	0	0	0	0	1	0	0	0	8135	1087	38	1	2953	1	KDM5C	23	53230914	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	2576969	53230914	102039646	120	10386											
FAM123B	139285	broad.mit.edu	37	X	63412206	63412206	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:63412206delT	uc022byb.1	-	0	961	c.961delA	c.(961-963)agcfs	p.S321fs	FAM123B_uc004dvo.3_Frame_Shift_Del_p.S321fs	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	321					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GAATCAAAGCTTTTCAGGGAT	0.522													-	63412206	T	-	63412206	7	5	152	1	0	1	0	1	0	0	0	0	5423	1609	56	0	2450	0	FAM123B	23	63412206	Frame_Shift_Del	DEL	T	TCGA-19-1390-01A-01D-1495-08	10181292	63412206	91858354	121	10387											
YIPF6	286451	broad.mit.edu	37	X	67731798	67731798	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:67731798T>A	uc004dwz.3	+	1	450	c.165T>A	c.(163-165)aaT>aaA	p.N55K	YIPF6_uc011mph.2_Intron	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	55						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCACATTAAATGAATCTGTTC	0.393													A	67731798	T	A	67731798	3	1	152	1	0	0	0	0	1	0	0	0	17479	1461	51	5	171	5	YIPF6	23	67731798	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	4319592	67731798	87538762	122	10388											
PCDH11X	27328	broad.mit.edu	37	X	91133162	91133162	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:91133162C>A	uc004efk.2	+	1	2768	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	PCDH11X_uc004efl.2_Missense_Mutation_p.F641L|PCDH11X_uc010nmv.2_Missense_Mutation_p.F641L|PCDH11X_uc004efm.2_Missense_Mutation_p.F641L|PCDH11X_uc004efn.2_Missense_Mutation_p.F641L|PCDH11X_uc004efo.2_Missense_Mutation_p.F641L|PCDH11X_uc004efh.2_Missense_Mutation_p.F641L|PCDH11X_uc004efj.1_Missense_Mutation_p.F641L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	641	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						CTTACACTTTCTATGTAAAGG	0.363													A	91133162	C	A	91133162	3	1	152	1	0	0	0	0	1	0	0	0	11508	912	32	5	1929	5	PCDH11X	23	91133162	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	23401364	91133162	64137398	123	10389											
OCRL	4952	broad.mit.edu	37	X	128721074	128721074	+	Silent	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:128721074A>G	uc004euq.3	+	19	2400	c.2235A>G	c.(2233-2235)ctA>ctG	p.L745L	OCRL_uc004eur.3_Silent_p.L737L|OCRL_uc010nrb.3_5'Flank	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	745	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TAGATCACCTATTCAAATACG	0.458													G	128721074	A	G	128721074	2	3	152	1	0	0	0	0	0	0	0	1	10823	436	16	4		4	OCRL	23	128721074	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	37587912	128721074	26549486	124	10390											
HTATSF1	27336	broad.mit.edu	37	X	135593609	135593609	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:135593609G>T	uc004ezw.3	+	9	2127	c.1705G>T	c.(1705-1707)Ggt>Tgt	p.G569C	HTATSF1_uc004ezx.3_Missense_Mutation_p.G569C	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	569	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGAAGAAAATGGTCTCGAGAA	0.393													T	135593609	G	T	135593609	3	4	152	1	0	0	0	0	1	0	0	0	7433	1348	47	5	1739	5	HTATSF1	23	135593609	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	6872535	135593609	19676951	125	10391											
SOX3	6658	broad.mit.edu	37	X	139586804	139586804	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:139586804C>T	uc004fbd.1	-	0	422	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	141					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.R141R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GTTCATGGGCCGTTTCACACG	0.652													T	139586804	C	T	139586804	3	4	152	1	0	0	0	0	1	0	0	0	14951	652	23	2	922	2	SOX3	23	139586804	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	3993195	139586804	15683756	126	10392											
MTM1	4534	broad.mit.edu	37	X	149839946	149839946	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:149839946C>T	uc004fef.4	+	14	1766	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.R527C|MTM1_uc011mxz.2_Missense_Mutation_p.R449C|MTM1_uc010nte.3_Missense_Mutation_p.R432C	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	564					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAGCCTTACGCGACGAATA	0.517													T	149839946	C	T	149839946	3	4	152	1	0	0	0	0	1	0	0	0	9937	536	19	1	1744	1	MTM1	23	149839946	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	10253142	149839946	5430614	127	10393											
GABRE	2564	broad.mit.edu	37	X	151128446	151128446	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:151128446A>G	uc004ffi.3	-	5	703	c.649T>C	c.(649-651)Tcc>Ccc	p.S217P	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	217					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGATAGGAAACTGGAAAG	0.438													G	151128446	A	G	151128446	3	3	152	1	0	0	0	0	1	0	0	0	6170	246	9	4	887	4	GABRE	23	151128446	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	1288500	151128446	4142114	128	10394											
PLXNB3	5365	broad.mit.edu	37	X	153033712	153033712	+	Silent	SNP	C	C	T			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:153033712C>T	uc010nuk.2	+	4	1435	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.P47P|PLXNB3_uc004fii.2_Silent_p.P365P|PLXNB3_uc011mzd.1_Silent_p.P4P	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	365	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			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)					AGGATTCCCCCGAGTCGTACC	0.687													T	153033712	C	T	153033712	2	4	152	1	0	0	0	0	0	0	0	1	12125	639	23	2		2	PLXNB3	23	153033712	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	1905266	153033712	2236848	129	10395											
MPP1	4354	broad.mit.edu	37	X	154009984	154009984	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:154009984T>A	uc004fmp.2	-	9	1194	c.1040A>T	c.(1039-1041)gAg>gTg	p.E347V	MPP1_uc011mzv.2_Missense_Mutation_p.E317V|MPP1_uc010nvg.2_Missense_Mutation_p.E327V|MPP1_uc011mzw.2_Missense_Mutation_p.E330V	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	347	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCCAAGAACTCATTGGCAGA	0.468													A	154009984	T	A	154009984	3	1	152	1	0	0	0	0	1	0	0	0	9733	1551	54	5	372	5	MPP1	23	154009984	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	976272	154009984	1260576	130	10396											
MTOR	2475	broad.mit.edu	37	1	11190804	11190804	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:11190804C>T	uc001asd.3	-	38	5516	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K	MTOR_uc001asc.3_Missense_Mutation_p.E4K	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1799	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.E1799K(8)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGCACAGCTTCGAAGTTCATC	0.582													T	11190804	C	T	11190804	3	4	153	1	0	0	0	0	1	0	0	0	9954	893	31	2	2334	2	MTOR	1	11190804	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		11190804	238059817	1	10397											
PRAMEF12	390999	broad.mit.edu	37	1	12837525	12837525	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:12837525C>T	uc001aui.3	+	2	1262	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	412										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGTATCCTGCCCCTCTG	0.577													T	12837525	C	T	12837525	3	4	153	1	0	0	0	0	1	0	0	0	12428	681	24	3	1245	3	PRAMEF12	1	12837525	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	1646721	12837525	236413096	2	10398											
DDI2	84301	broad.mit.edu	37	1	15978327	15978327	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:15978327C>A	uc001awx.2	+	7	1333	c.1120C>A	c.(1120-1122)Cgg>Agg	p.R374R	RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	374					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGAGGATGTACGGCCAGAGGA	0.512													A	15978327	C	A	15978327	2	1	153	1	0	0	0	0	0	0	0	1	4329	527	19	5		5	DDI2	1	15978327	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	3140802	15978327	233272294	3	10399											
C1orf64	149563	broad.mit.edu	37	1	16330879	16330879	+	Silent	SNP	C	C	A	rs143498880	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:16330879C>A	uc001axn.3	+	1	150	c.82_splice	c.e1+1	p.G28_splice		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.	28										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCAGCTCCGGTAAGAGGC	0.647													A	16330879	C	A	16330879	2	1	153	1	0	0	0	0	0	0	0	1	2054	666	23	5		5	C1orf64	1	16330879	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	352552	16330879	232919742	4	10400											
CDA	978	broad.mit.edu	37	1	20945033	20945033	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:20945033G>A	uc001bdk.3	+	3	592	c.413G>A	c.(412-414)gGg>gAg	p.G138E	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	138					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TCCTCCTTTGGGCCTGAGGAC	0.557													A	20945033	G	A	20945033	3	1	153	1	0	0	0	0	1	0	0	0	3052	1232	43	3	427	3	CDA	1	20945033	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4614154	20945033	228305588	5	10401											
HSPG2	3339	broad.mit.edu	37	1	22163397	22163397	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:22163397T>A	uc009vqd.3	-	74	10296	c.10256A>T	c.(10255-10257)gAg>gTg	p.E3419V	HSPG2_uc001bfj.3_Missense_Mutation_p.E3418V	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3418	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACAGTGGAACTCAACGCTGGC	0.662													A	22163397	T	A	22163397	3	1	153	1	0	0	0	0	1	0	0	0	7430	1551	54	5	3014	5	HSPG2	1	22163397	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1218364	22163397	227087224	6	10402											
ARID1A	8289	broad.mit.edu	37	1	27099916	27099916	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:27099916C>T	uc001bmv.1	+	14	4168	c.3795C>T	c.(3793-3795)ggC>ggT	p.G1265G	ARID1A_uc001bmt.1_Silent_p.G1264G|ARID1A_uc001bmu.1_Silent_p.G1265G|ARID1A_uc001bmw.1_Silent_p.G882G|ARID1A_uc001bmx.1_Silent_p.G111G|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1265					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGCTGCCGGCCCTGGGCTAG	0.607			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27099916	C	T	27099916	2	4	153	1	0	0	0	0	0	0	0	1	913	726	26	3		3	ARID1A	1	27099916	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	4936519	27099916	222150705	7	10403											
CYP4X1	260293	broad.mit.edu	37	1	47498946	47498946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:47498946G>A	uc001cqt.3	+	3	648	c.398G>A	c.(397-399)tGg>tAg	p.W133*	CYP4X1_uc001cqr.3_Nonsense_Mutation_p.W132*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.W68*	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	133						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGACCCAAGTGGTTCCAGCAT	0.423													A	47498946	G	A	47498946	4	1	153	1	0	0	0	0	0	1	0	0	4193	1357	47	3	412	3	CYP4X1	1	47498946	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	20399030	47498946	201751675	8	10404											
SYDE2	84144	broad.mit.edu	37	1	85624724	85624724	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:85624724G>C	uc009wcm.3	-	6	3343	c.3294C>G	c.(3292-3294)aaC>aaG	p.N1098K		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	1098					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTAAAAAGTAGTTTTCCCCAC	0.388													C	85624724	G	C	85624724	3	2	153	1	0	0	0	0	1	0	0	0	15433	1020	36	5	294	5	SYDE2	1	85624724	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	38125778	85624724	163625897	9	10405											
COL24A1	255631	broad.mit.edu	37	1	86377068	86377068	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:86377068C>T	uc001dlj.3	-	24	2686	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	COL24A1_uc001dli.3_Missense_Mutation_p.E7K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E171K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	871	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			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)		ATTACCTTTTCGCCAATGCTT	0.308													T	86377068	C	T	86377068	3	4	153	1	0	0	0	0	1	0	0	0	3683	893	31	2	2677	2	COL24A1	1	86377068	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	752344	86377068	162873553	10	10406											
NOTCH2	4853	broad.mit.edu	37	1	120510201	120510201	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:120510201C>A	uc001eik.3	-	7	1605	c.1308G>T	c.(1306-1308)acG>acT	p.T436T	NOTCH2_uc001eil.3_Silent_p.T436T|NOTCH2_uc021osy.1_Silent_p.T397T|NOTCH2_uc001eim.4_Silent_p.T353T	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	436	EGF-like 11; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.T436T(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCGCCATCCGTGTTCACAC	0.473			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				A	120510201	C	A	120510201	2	1	153	1	0	0	0	0	0	0	0	1	10548	639	23	5		5	NOTCH2	1	120510201	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	34133133	120510201	128740420	11	10407											
TCHH	7062	broad.mit.edu	37	1	152080460	152080460	+	Missense_Mutation	SNP	G	G	A	rs71585886		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:152080460G>A	uc009wne.1	-	2	5505	c.5233C>T	c.(5233-5235)Cgc>Tgc	p.R1745C	TCHH_uc001ezp.2_Missense_Mutation_p.R1745C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1745	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTAGCGTTCTTGGCGG	0.587													A	152080460	G	A	152080460	3	1	153	1	0	0	0	0	1	0	0	0	15697	1145	40	1	602	1	TCHH	1	152080460	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	31570259	152080460	97170161	12	10408											
PPP1R12B	4660	broad.mit.edu	37	1	202418229	202418229	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:202418229G>A	uc001gya.2	+	12	1930	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R		NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	594					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CACTGCCAATGGGGTTACAGC	0.507													A	202418229	G	A	202418229	3	1	153	1	0	0	0	0	1	0	0	0	12355	1348	47	3	1920	3	PPP1R12B	1	202418229	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	50337769	202418229	46832392	13	10409											
OR2B11	127623	broad.mit.edu	37	1	247614696	247614696	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:247614696C>T	uc010pyx.2	-	0	589	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	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;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCATTCACAGCGGTGTCAGCA	0.577													T	247614696	C	T	247614696	3	4	153	1	0	0	0	0	1	0	0	0	10988	768	27	1	367	1	OR2B11	1	247614696	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	45196467	247614696	1635925	14	10410											
CIB4	130106	broad.mit.edu	37	2	26805768	26805768	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:26805768G>A	uc002rhm.3	-	5	481	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	151	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGATCCGACTCACTCAG	0.542													A	26805768	G	A	26805768	3	1	153	1	0	0	0	0	1	0	0	0	3423	1059	37	2	113	2	CIB4	2	26805768	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		26805768	216393605	15	10411											
CAD	790	broad.mit.edu	37	2	27465508	27465508	+	Silent	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:27465508G>T	uc002rji.3	+	40	6405	c.6243G>T	c.(6241-6243)ctG>ctT	p.L2081L	CAD_uc010eyw.3_Silent_p.L2018L	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2081	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGGGTGACCTGAAGCACGGAC	0.587													T	27465508	G	T	27465508	2	4	153	1	0	0	0	0	0	0	0	1	2565	1277	45	5		5	CAD	2	27465508	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	659740	27465508	215733865	16	10412											
BIRC6	57448	broad.mit.edu	37	2	32710744	32710744	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:32710744G>A	uc010ezu.3	+	39	7865	c.7731G>A	c.(7729-7731)caG>caA	p.Q2577Q		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2577					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GACTTGAACAGCAAGCAGAAC	0.373													A	32710744	G	A	32710744	2	1	153	1	0	0	0	0	0	0	0	1	1438	962	34	3		3	BIRC6	2	32710744	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	5245236	32710744	210488629	17	10413											
PRKCE	5581	broad.mit.edu	37	2	46228662	46228662	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:46228662A>G	uc002rut.3	+	6	1140	c.943A>G	c.(943-945)Aac>Gac	p.N315D		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	315					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAAAATCACCAACAGCGGCCA	0.552													G	46228662	A	G	46228662	3	3	153	1	0	0	0	0	1	0	0	0	12511	130	5	4	969	4	PRKCE	2	46228662	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	13517918	46228662	196970711	18	10414											
RAB11FIP5	26056	broad.mit.edu	37	2	73316179	73316179	+	Silent	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:73316179T>C	uc002siu.4	-	1	937	c.696A>G	c.(694-696)aaA>aaG	p.K232K	RAB11FIP5_uc002sit.4_Silent_p.K154K	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	232					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGAAGAAGCCTTTGGCTTTGC	0.602													C	73316179	T	C	73316179	2	2	153	1	0	0	0	0	0	0	0	1	12897	1606	56	4		4	RAB11FIP5	2	73316179	Silent	SNP	T	TCGA-19-1790-01B-01D-1353-08	27087517	73316179	169883194	19	10415											
PAX8	7849	broad.mit.edu	37	2	113999249	113999249	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:113999249G>T	uc010yxt.2	-	6	822	c.656C>A	c.(655-657)cCc>cAc	p.P219H	PAX8_uc010yxu.2_Missense_Mutation_p.P219H|PAX8_uc002tjm.3_Missense_Mutation_p.P219H|PAX8_uc002tjn.3_Missense_Mutation_p.P219H|PAX8_uc010fku.1_Missense_Mutation_p.P219H|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	219					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GTGCTTTCGGGGTCCGCTGCT	0.597			T	PPARG	follicular thyroid		Thyroid dysgenesis						T	113999249	G	T	113999249	3	4	153	1	0	0	0	0	1	0	0	0	11485	1232	43	5	595	5	PAX8	2	113999249	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	40683070	113999249	129200124	20	10416											
TTN	7273	broad.mit.edu	37	2	179407009	179407009	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:179407009C>G	uc021vsy.1	-	297	89995	c.89770G>C	c.(89770-89772)Gag>Cag	p.E29924Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23619Q|TTN_uc021vta.1_Missense_Mutation_p.E23552Q|TTN_uc021vtb.1_Missense_Mutation_p.E23427Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30851	Fibronectin type-III 118.						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)			CTGCGACACTCTATGACCTCA	0.463													G	179407009	C	G	179407009	3	3	153	1	0	0	0	0	1	0	0	0	16732	922	32	5	10561	5	TTN	2	179407009	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	65407760	179407009	63792364	21	10417											
TTN	7273	broad.mit.edu	37	2	179634616	179634616	+	Frame_Shift_Del	DEL	T	T	-	rs78680811		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:179634616delT	uc021vsy.1	-	36	8917	c.8692delA	c.(8692-8694)actfs	p.T2898fs	TTN_uc021vsz.1_Frame_Shift_Del_p.T2852fs|TTN_uc021vta.1_Frame_Shift_Del_p.T2852fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T2852fs|TTN_uc002unb.2_Frame_Shift_Del_p.T2898fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2898	Ig-like 16.						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)			AAAGAGGCAGTTTTGGTCTCA	0.368													-	179634616	T	-	179634616	7	5	153	1	0	1	0	1	0	0	0	0	16732	1725	60	0	102600	0	TTN	2	179634616	Frame_Shift_Del	DEL	T	TCGA-19-1790-01B-01D-1353-08	227607	179634616	63564757	22	10418											
MYO1B	4430	broad.mit.edu	37	2	192255148	192255148	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:192255148T>C	uc010fsg.2	+	17	2167	c.1912T>C	c.(1912-1914)Tat>Cat	p.Y638H	MYO1B_uc002usq.2_Missense_Mutation_p.Y638H|MYO1B_uc002usr.2_Missense_Mutation_p.Y638H|MYO1B_uc002usu.2_5'Flank	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	638	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			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)			CAGGCAGGCCTATGAACCTTG	0.468													C	192255148	T	C	192255148	3	2	153	1	0	0	0	0	1	0	0	0	10069	1522	53	4	1978	4	MYO1B	2	192255148	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	12620532	192255148	50944225	23	10419											
TMEFF2	23671	broad.mit.edu	37	2	193049126	193049126	+	Silent	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:193049126T>C	uc002utc.3	-	2	760	c.366A>G	c.(364-366)aaA>aaG	p.K122K	TMEFF2_uc002utd.1_Silent_p.K122K	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	122	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CACTCTGCTGTTTGCATGCAG	0.473													C	193049126	T	C	193049126	2	2	153	1	0	0	0	0	0	0	0	1	16011	1722	60	4		4	TMEFF2	2	193049126	Silent	SNP	T	TCGA-19-1790-01B-01D-1353-08	793978	193049126	50150247	24	10420											
PAX3	5077	broad.mit.edu	37	2	223096854	223096854	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:223096854G>C	uc010fwo.3	-	4	1116	c.735C>G	c.(733-735)gaC>gaG	p.D245E	PAX3_uc002vmt.2_Missense_Mutation_p.D245E|PAX3_uc002vmy.2_Missense_Mutation_p.D244E|PAX3_uc002vmv.2_Missense_Mutation_p.D245E|PAX3_uc002vmw.2_Missense_Mutation_p.D245E|PAX3_uc002vmx.2_Missense_Mutation_p.D245E	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	245					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.D245Y(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)		TAGTATAAATGTCAGGGTAAT	0.527			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						C	223096854	G	C	223096854	3	2	153	1	0	0	0	0	1	0	0	0	11480	1368	48	5	834	5	PAX3	2	223096854	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	30047728	223096854	20102519	25	10421											
ESPNL	339768	broad.mit.edu	37	2	239036280	239036280	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:239036280G>C	uc002vxq.4	+	6	1230	c.1120G>C	c.(1120-1122)Gcc>Ccc	p.A374P	ESPNL_uc010fyw.3_Missense_Mutation_p.A70P	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	374	Pro-rich.									endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTCAGCCCGGCCTGGCCTGG	0.672													C	239036280	G	C	239036280	3	2	153	1	0	0	0	0	1	0	0	0	5255	1203	42	5	1146	5	ESPNL	2	239036280	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	15939426	239036280	4163093	26	10422											
OR6B3	150681	broad.mit.edu	37	2	240985270	240985270	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:240985270C>T	uc010zoe.2	-	0	220	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATGTCAGACACGTACCAGATC	0.557													T	240985270	C	T	240985270	3	4	153	1	0	0	0	0	1	0	0	0	11189	536	19	1	778	1	OR6B3	2	240985270	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	1948990	240985270	2214103	27	10423											
MYEOV2	150678	broad.mit.edu	37	2	241066064	241066064	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:241066064delT	uc002vyu.1	-	4	675	c.675delA	c.(673-675)aaafs	p.K225fs		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTTAAAACATTTACCCCTCC	0.488													-	241066064	T	-	241066064	7	5	153	1	0	1	0	1	0	0	0	0	10026	1490	52	0	87	0	MYEOV2	2	241066064	Frame_Shift_Del	DEL	T	TCGA-19-1790-01B-01D-1353-08	80794	241066064	2133309	28	10424											
MYEOV2	150678	broad.mit.edu	37	2	241069334	241069334	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:241069334C>T	uc002vyu.1	-	3	375	c.375G>A	c.(373-375)tcG>tcA	p.S125S		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTACCTCTTCCGACACCACAG	0.617													T	241069334	C	T	241069334	2	4	153	1	0	0	0	0	0	0	0	1	10026	639	23	2		2	MYEOV2	2	241069334	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	3270	241069334	2130039	29	10425											
D2HGDH	728294	broad.mit.edu	37	2	242683078	242683078	+	Missense_Mutation	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:242683078A>G	uc002wce.1	+	4	705	c.532A>G	c.(532-534)Agc>Ggc	p.S178G	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.S44G|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	178	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGAGGAGCTGAGCCGGTATGT	0.642													G	242683078	A	G	242683078	3	3	153	1	0	0	0	0	1	0	0	0	4213	304	11	4	546	4	D2HGDH	2	242683078	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	1613744	242683078	516295	30	10426											
DNAH1	25981	broad.mit.edu	37	3	52393305	52393305	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:52393305C>G	uc011bef.2	+	25	4571	c.4310C>G	c.(4309-4311)aCc>aGc	p.T1437S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1437	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGCCAGGTGACCATCGCTGGG	0.627													G	52393305	C	G	52393305	3	3	153	1	0	0	0	0	1	0	0	0	4597	507	18	5	4408	5	DNAH1	3	52393305	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		52393305	145629125	31	10427											
OR5K2	402135	broad.mit.edu	37	3	98216751	98216751	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:98216751C>G	uc011bgx.2	+	0	227	c.227C>G	c.(226-228)gCt>gGt	p.A76G		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGCCTGTGCTATTACCCCC	0.413													G	98216751	C	G	98216751	3	3	153	1	0	0	0	0	1	0	0	0	11167	797	28	5	229	5	OR5K2	3	98216751	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	45823446	98216751	99805679	32	10428											
PPP2R3A	5523	broad.mit.edu	37	3	135721607	135721607	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:135721607G>T	uc003eqv.2	+	1	1884	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	423					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGTCAGATGGAAAGAAAGC	0.358													T	135721607	G	T	135721607	4	4	153	1	0	0	0	0	0	1	0	0	12388	1349	47	5	1269	5	PPP2R3A	3	135721607	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	37504856	135721607	62300823	33	10429											
ACPL2	92370	broad.mit.edu	37	3	141006223	141006223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:141006223G>T	uc003etu.3	+	6	732	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	ACPL2_uc003etv.3_Nonsense_Mutation_p.E145*|ACPL2_uc011bna.2_Nonsense_Mutation_p.E107*|ACPL2_uc011bnb.2_Nonsense_Mutation_p.E128*	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	145						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGCCTCTTTCGAAAGCCCCTT	0.493													T	141006223	G	T	141006223	4	4	153	1	0	0	0	0	0	1	0	0	166	1059	37	5	447	5	ACPL2	3	141006223	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	5284616	141006223	57016207	34	10430											
PLCH1	23007	broad.mit.edu	37	3	155198910	155198910	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:155198910T>A	uc021xge.1	-	22	5206	c.4929A>T	c.(4927-4929)aaA>aaT	p.K1643N	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.K1605N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1643					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCACCCCCTTTCGTGTTCT	0.562													A	155198910	T	A	155198910	3	1	153	1	0	0	0	0	1	0	0	0	12037	1606	56	5	156	5	PLCH1	3	155198910	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	14192687	155198910	42823520	35	10431											
MECOM	2122	broad.mit.edu	37	3	168834168	168834168	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:168834168C>T	uc011bpj.1	-	7	1895	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S	MECOM_uc010hwk.1_Missense_Mutation_p.G333S|MECOM_uc003ffj.3_Missense_Mutation_p.G375S|MECOM_uc003ffi.3_Missense_Mutation_p.G310S|MECOM_uc011bpi.1_Missense_Mutation_p.G311S|MECOM_uc003ffn.3_Missense_Mutation_p.G310S|MECOM_uc003ffk.2_Missense_Mutation_p.G310S|MECOM_uc003ffl.2_Missense_Mutation_p.G470S|MECOM_uc011bpk.1_Missense_Mutation_p.G310S|MECOM_uc010hwn.2_Missense_Mutation_p.G498S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGTACAAGCCGGAAGGAAAC	0.473													T	168834168	C	T	168834168	3	4	153	1	0	0	0	0	1	0	0	0	9422	652	23	2	2267	2	MECOM	3	168834168	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	13635258	168834168	29188262	36	10432											
PIK3CA	5290	broad.mit.edu	37	3	178928108	178928127	+	Splice_Site	DEL	TGGATCAAATCCAAATAAAG	TGGATCAAATCCAAATAAAG	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:178928108_178928127delTGGATCAAATCCAAATAAAG	uc003fjk.3	+	8	1561	c.1404_splice	c.e8+1	p.K468_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	468	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P466S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTGGTGTTACTGGATCAAATCCAAATAAAGTAAGGTTTTT	0.332		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178928127	TGGATCAAATCCAAATAAAG	-	178928108	8	5	153	1	0	1	0	1	0	0	1	0	11913	1567	55	0	1412	0	PIK3CA	3	178928108	Splice_Site	DEL	TGGATCAAATCCAAATAAAG	TCGA-19-1790-01B-01D-1353-08	10093940	178928108	19094322	37	10433											
HRG	3273	broad.mit.edu	37	3	186394875	186394875	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:186394875C>A	uc003fqq.3	+	6	804	c.781C>A	c.(781-783)Cat>Aat	p.H261N		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	261					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TCATTTGGGACATCCCTTCCA	0.468													A	186394875	C	A	186394875	3	1	153	1	0	0	0	0	1	0	0	0	7354	478	17	5	807	5	HRG	3	186394875	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	7466767	186394875	11627555	38	10434											
TNK2	10188	broad.mit.edu	37	3	195611779	195611779	+	Silent	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:195611779G>C	uc003fvu.1	-	3	903	c.360C>G	c.(358-360)ctC>ctG	p.L120L	TNK2_uc003fvs.1_Silent_p.L152L|TNK2_uc003fvt.1_Silent_p.L183L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Silent_p.L134L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	120					positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCTCCCCAATGAGGCAGGTGA	0.672													C	195611779	G	C	195611779	2	2	153	1	0	0	0	0	0	0	0	1	16315	1277	45	5		5	TNK2	3	195611779	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	9216904	195611779	2410651	39	10435											
FGFR3	2261	broad.mit.edu	37	4	1807639	1807639	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:1807639G>A	uc003gdr.3	+	12	2064	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	FGFR3_uc003gdu.2_Missense_Mutation_p.R605Q|FGFR3_uc003gds.3_Missense_Mutation_p.R491Q|FGFR3_uc003gdq.3_Missense_Mutation_p.R604Q	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	603	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R603R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CAGGTGGCCCGGGGCATGGAG	0.692		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				A	1807639	G	A	1807639	3	1	153	1	0	0	0	0	1	0	0	0	5867	1116	39	2	2009	2	FGFR3	4	1807639	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		1807639	189346637	40	10436											
WHSC2	7469	broad.mit.edu	37	4	1986590	1986590	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:1986590G>A	uc003gem.3	-	7	1257	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	WHSC2_uc003gek.3_Silent_p.S64S|WHSC2_uc003gel.3_Silent_p.S252S|WHSC2_uc003gen.3_Silent_p.S192S	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	327					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			CGCTGGGCGTGGAGGGAAGGT	0.617													A	1986590	G	A	1986590	2	1	153	1	0	0	0	0	0	0	0	1	17361	1335	47	3		3	WHSC2	4	1986590	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	178951	1986590	189167686	41	10437											
CC2D2A	57545	broad.mit.edu	37	4	15589458	15589458	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:15589458C>T	uc010idv.2	+	32	4330	c.4085C>T	c.(4084-4086)gCa>gTa	p.A1362V	CC2D2A_uc003gnx.3_Missense_Mutation_p.A1254V|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	1362					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GATCTCCTGGCAGGGGATGAA	0.383													T	15589458	C	T	15589458	3	4	153	1	0	0	0	0	1	0	0	0	2728	710	25	3	4410	3	CC2D2A	4	15589458	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	13602868	15589458	175564818	42	10438											
SLIT2	9353	broad.mit.edu	37	4	20598280	20598280	+	Splice_Site	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:20598280T>A	uc003gpr.1	+	32	3765	c.3561_splice	c.e32+2	p.Q1187_splice	SLIT2_uc003gps.1_Splice_Site_p.Q1179_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1187	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACACTTCAGGTAAGAGATCTC	0.358													A	20598280	T	A	20598280	5	1	153	1	0	0	0	0	0	0	1	0	14740	1652	57	5	3689	5	SLIT2	4	20598280	Splice_Site	SNP	T	TCGA-19-1790-01B-01D-1353-08	5008822	20598280	170555996	43	10439											
EPHA5	2044	broad.mit.edu	37	4	66361196	66361196	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:66361196T>A	uc003hcy.3	-	3	1169	c.976A>T	c.(976-978)Agt>Tgt	p.S326C	EPHA5_uc003hcx.3_Missense_Mutation_p.S257C|EPHA5_uc003hcz.3_Missense_Mutation_p.S326C|EPHA5_uc011cah.2_Missense_Mutation_p.S326C|EPHA5_uc011cai.2_Missense_Mutation_p.S326C|EPHA5_uc003hda.2_Missense_Mutation_p.S326C	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	326	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGGTATAACTGTGAGGTGGA	0.463										TSP Lung(17;0.13)			A	66361196	T	A	66361196	3	1	153	1	0	0	0	0	1	0	0	0	5170	1580	55	5	2197	5	EPHA5	4	66361196	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	45762916	66361196	124793080	44	10440											
FGB	2244	broad.mit.edu	37	4	155490852	155490852	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:155490852C>T	uc003ioa.4	+	6	1184	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	FGB_uc010ipv.3_Missense_Mutation_p.A323V	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	382	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCCGGTAATGCCCTCATGGAT	0.473													T	155490852	C	T	155490852	3	4	153	1	0	0	0	0	1	0	0	0	5831	739	26	3	1171	3	FGB	4	155490852	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	89129656	155490852	35663424	45	10441											
PALLD	23022	broad.mit.edu	37	4	169824985	169824985	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:169824985C>A	uc011cjx.2	+	14	2761	c.2550C>A	c.(2548-2550)acC>acA	p.T850T	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Silent_p.T833T|PALLD_uc003irv.3_Silent_p.T451T|PALLD_uc003irw.3_Silent_p.T346T|PALLD_uc003irx.3_Silent_p.T59T	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1057	Interaction with ACTN.|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			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)		TCGATGGGACCTGCTCCCTCC	0.438									Pancreatic Cancer, Familial Clustering of				A	169824985	C	A	169824985	2	1	153	1	0	0	0	0	0	0	0	1	11407	668	24	5		5	PALLD	4	169824985	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	14334133	169824985	21329291	46	10442											
ADAMTS16	170690	broad.mit.edu	37	5	5200249	5200249	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:5200249G>T	uc003jdl.3	+	8	1456	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G440C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G440C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	440	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						tcATAGCTTTGGCATGATTCA	0.438													T	5200249	G	T	5200249	3	4	153	1	0	0	0	0	1	0	0	0	261	1348	47	5	1352	5	ADAMTS16	5	5200249	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		5200249	175715011	47	10443											
CDH18	1016	broad.mit.edu	37	5	19503108	19503108	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:19503108G>C	uc003jgd.3	-	10	2157	c.1623C>G	c.(1621-1623)gaC>gaG	p.D541E	CDH18_uc011cnm.2_Missense_Mutation_p.D541E|CDH18_uc003jgc.3_Missense_Mutation_p.D541E|CDH18_uc021xwu.1_Missense_Mutation_p.D541E	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	541	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACCTTCATTGTCCTTCAGAG	0.353													C	19503108	G	C	19503108	3	2	153	1	0	0	0	0	1	0	0	0	3103	1368	48	5	761	5	CDH18	5	19503108	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	14302859	19503108	161412152	48	10444											
PRDM9	56979	broad.mit.edu	37	5	23522791	23522791	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:23522791G>T	uc003jgo.3	+	7	861	c.679G>T	c.(679-681)Gac>Tac	p.D227Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	227					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						ATTTGTAAAGGACAGTGCAGT	0.552										HNSCC(3;0.000094)			T	23522791	G	T	23522791	3	4	153	1	0	0	0	0	1	0	0	0	12463	1174	41	5	705	5	PRDM9	5	23522791	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4019683	23522791	157392469	49	10445											
NIPBL	25836	broad.mit.edu	37	5	37064646	37064646	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:37064646A>G	uc003jkl.4	+	46	8566	c.8067A>G	c.(8065-8067)aaA>aaG	p.K2689K	NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2689					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAGGTCAAAACGAAATTCAG	0.378													G	37064646	A	G	37064646	2	3	153	1	0	0	0	0	0	0	0	1	10428	40	2	4		4	NIPBL	5	37064646	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	13541855	37064646	143850614	50	10446											
C9	735	broad.mit.edu	37	5	39288825	39288825	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:39288825C>A	uc003jlv.4	-	10	1734	c.1645_splice	c.e10+1	p.G549_splice		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	549					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTGTCCTCACCTTCAGAAATT	0.333													A	39288825	C	A	39288825	4	1	153	1	0	0	0	0	0	1	0	0	2443	695	24	5	42	5	C9	5	39288825	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	2224179	39288825	141626435	51	10447											
MTX3	345778	broad.mit.edu	37	5	79279592	79279592	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:79279592G>A	uc010jag.3	-	8	881	c.854C>T	c.(853-855)cCt>cTt	p.P285L	MTX3_uc010jah.3_3'UTR|MTX3_uc003kge.4_Missense_Mutation_p.P224L	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	285					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AGGAAGCTGAGGGCTTTGGCG	0.463													A	79279592	G	A	79279592	3	1	153	1	0	0	0	0	1	0	0	0	9969	1000	35	3	88	3	MTX3	5	79279592	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	39990767	79279592	101635668	52	10448											
SLC23A1	9963	broad.mit.edu	37	5	138716553	138716553	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:138716553C>A	uc003leg.3	-	3	428	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	SLC23A1_uc003leh.3_Missense_Mutation_p.A111S	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	111					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AATGCAAAGGCACTGGCCTGG	0.602													A	138716553	C	A	138716553	3	1	153	1	0	0	0	0	1	0	0	0	14462	710	25	5	1521	5	SLC23A1	5	138716553	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	59436961	138716553	42198707	53	10449											
KIF4B	285643	broad.mit.edu	37	5	154396908	154396908	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:154396908C>A	uc010jih.1	+	0	3649	c.3489C>A	c.(3487-3489)acC>acA	p.T1163T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1163	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.A1162S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTGCCACCCCCAATAGCA	0.532													A	154396908	C	A	154396908	2	1	153	1	0	0	0	0	0	0	0	1	8304	610	22	5		5	KIF4B	5	154396908	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	15680355	154396908	26518352	54	10450											
CFB	629	broad.mit.edu	37	6	31915244	31915244	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:31915244C>T	uc003nyj.4	+	3	882	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CFB_uc011dor.2_Missense_Mutation_p.R704W|CFB_uc003nyi.2_Missense_Mutation_p.R202W	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	202	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGGCTCCCAGCGGCGAACGTG	0.632													T	31915244	C	T	31915244	3	4	153	1	0	0	0	0	1	0	0	0	3278	759	27	1	618	1	CFB	6	31915244	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		31915244	139199823	55	10451											
TAP2	6891	broad.mit.edu	37	6	32806007	32806007	+	Missense_Mutation	SNP	G	G	A	rs61736918	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:32806007G>A	uc011dqf.1	-	1	126	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	TAP2_uc003ocb.1_Missense_Mutation_p.R2W|TAP2_uc003occ.3_Missense_Mutation_p.R2W|TAP2_uc003ocd.3_Missense_Mutation_p.R2W	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	2					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TCAGGGAGCCGCATGGCTCTG	0.622													A	32806007	G	A	32806007	3	1	153	1	0	0	0	0	1	0	0	0	15548	1086	38	1	2185	1	TAP2	6	32806007	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	890763	32806007	138309060	56	10452											
LEMD2	221496	broad.mit.edu	37	6	33740529	33740529	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:33740529C>A	uc011drm.2	-	8	1401	c.1388G>T	c.(1387-1389)cGa>cTa	p.R463L	LEMD2_uc010jvg.3_Missense_Mutation_p.R172L|LEMD2_uc011drl.2_Missense_Mutation_p.R161L	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	463						integral to nuclear inner membrane		p.R463Q(2)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTCCACAGCTCGGTCCCAGAC	0.627													A	33740529	C	A	33740529	3	1	153	1	0	0	0	0	1	0	0	0	8720	884	31	5	127	5	LEMD2	6	33740529	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	934522	33740529	137374538	57	10453											
PGK2	5232	broad.mit.edu	37	6	49754282	49754282	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:49754282G>T	uc003ozu.3	-	0	772	c.619C>A	c.(619-621)Ccc>Acc	p.P207T		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	207					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.P207P(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCCAGAAAGGGTCTCACTGGG	0.428													T	49754282	G	T	49754282	3	4	153	1	0	0	0	0	1	0	0	0	11791	1261	44	5	638	5	PGK2	6	49754282	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	16013753	49754282	121360785	58	10454											
ROS1	57120	broad.mit.edu	37	6	117892118	117892118	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:117892118C>A	uc003pxu.3	-	6	1071	c.817_splice	c.e6-1	p.D273_splice	ROS1_uc003pxq.1_Splice_Site_p.D46_splice|ROS1_uc003pxv.3_Splice_Site_p.D265_splice	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAATCTTGATCCTTATTGGGA	0.328			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								A	117892118	C	A	117892118	3	1	153	1	0	0	0	0	1	0	0	0	13531	869	30	5		5	ROS1	6	117892118	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	68137836	117892118	53222949	59	10455											
UTRN	7402	broad.mit.edu	37	6	145103130	145103130	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:145103130T>C	uc003qkt.3	+	59	8797	c.8705T>C	c.(8704-8706)cTc>cCc	p.L2902P		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2902	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACCAGCTCCTCAGTGTTCCA	0.403													C	145103130	T	C	145103130	3	2	153	1	0	0	0	0	1	0	0	0	17100	1551	54	4	8943	4	UTRN	6	145103130	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	27211012	145103130	26011937	60	10456											
ESR1	2099	broad.mit.edu	37	6	152163775	152163775	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:152163775G>T	uc010kio.3	+	2	714	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	ESR1_uc021zgx.1_Missense_Mutation_p.A166S|ESR1_uc021zgy.1_Non-coding_Transcript|ESR1_uc003qom.4_Missense_Mutation_p.A166S|ESR1_uc010kin.3_Missense_Mutation_p.A166S|ESR1_uc010kip.3_Missense_Mutation_p.A166S|ESR1_uc003qon.4_Missense_Mutation_p.A166S|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Missense_Mutation_p.A166S|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Non-coding_Transcript|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_5'UTR|ESR1_uc011eew.2_5'UTR|ESR1_uc011eet.2_Non-coding_Transcript|ESR1_uc010kis.3_5'UTR|ESR1_uc021zha.1_5'Flank	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	166	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	AGAAAGATTGGCCAGTACCAA	0.453													T	152163775	G	T	152163775	3	4	153	1	0	0	0	0	1	0	0	0	5256	1203	42	5	502	5	ESR1	6	152163775	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	7060645	152163775	18951292	61	10457											
TIAM2	26230	broad.mit.edu	37	6	155451173	155451173	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:155451173G>T	uc003qqb.3	+	5	2089	c.816G>T	c.(814-816)atG>atT	p.M272I	TIAM2_uc003qqe.3_Missense_Mutation_p.M272I	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	272					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCCCGGCATGCCTGACCCCA	0.597													T	155451173	G	T	155451173	3	4	153	1	0	0	0	0	1	0	0	0	15888	1319	46	5	818	5	TIAM2	6	155451173	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3287398	155451173	15663894	62	10458											
IGF2R	3482	broad.mit.edu	37	6	160445736	160445736	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:160445736G>T	uc003qta.3	+	5	794	c.646_splice	c.e5+1	p.D216_splice		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	216					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			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)		TAGAGACATAGGTATGAATCT	0.438													T	160445736	G	T	160445736	3	4	153	1	0	0	0	0	1	0	0	0	7576	1014	35	5	664	5	IGF2R	6	160445736	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4994563	160445736	10669331	63	10459											
STARD3NL	83930	broad.mit.edu	37	7	38254036	38254039	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:38254036_38254039delGTAA	uc003tfr.3	+	3	576	c.303_splice	c.e3+1	p.F101_splice		NM_032016	NP_114405	O95772	MENTO_HUMAN	Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.	101	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TGATATATTTGTAAGTATTTTTTA	0.338													-	38254039	GTAA	-	38254036	8	5	153	1	0	1	0	1	0	0	1	0	15257	1391	48	0	310	0	STARD3NL	7	38254036	Splice_Site	DEL	GTAA	TCGA-19-1790-01B-01D-1353-08		38254036	120884627	64	10460											
AMPH	273	broad.mit.edu	37	7	38516553	38516553	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:38516553C>T	uc003tgu.3	-	5	629	c.413G>A	c.(412-414)cGc>cAc	p.R138H	AMPH_uc003tgv.3_Missense_Mutation_p.R138H	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	138	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTCCTGCTGCGCTTGGCGAT	0.502													T	38516553	C	T	38516553	3	4	153	1	0	0	0	0	1	0	0	0	588	768	27	1	1738	1	AMPH	7	38516553	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	262517	38516553	120622110	65	10461											
C7orf25	79020	broad.mit.edu	37	7	42949845	42949845	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:42949845G>C	uc003thx.4	-	1	1314	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	C7orf25_uc010kxq.3_Missense_Mutation_p.L219V|C7orf25_uc010kxr.3_Missense_Mutation_p.L277V|C7orf25_uc022ace.1_Missense_Mutation_p.L219V	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	219								p.L276F(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						ACCTGCAAAAGTTCAGGGCCC	0.438													C	42949845	G	C	42949845	3	2	153	1	0	0	0	0	1	0	0	0	2380	1029	36	5	614	5	C7orf25	7	42949845	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4433292	42949845	116188818	66	10462											
ADCY1	107	broad.mit.edu	37	7	45632382	45632382	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:45632382G>A	uc003tne.4	+	1	682	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	ADCY1_uc003tnd.3_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	222					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTTGCTCTTCGTCGGTGTGAA	0.592													A	45632382	G	A	45632382	3	1	153	1	0	0	0	0	1	0	0	0	292	1145	40	1	670	1	ADCY1	7	45632382	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2682537	45632382	113506281	67	10463											
TNS3	64759	broad.mit.edu	37	7	47408183	47408183	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:47408183G>A	uc003tnw.3	-	16	2418	c.2060C>T	c.(2059-2061)tCc>tTc	p.S687F	TNS3_uc022acn.1_Missense_Mutation_p.S244F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	687						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGAGCCTGGGGAGGGGCCTGT	0.622													A	47408183	G	A	47408183	3	1	153	1	0	0	0	0	1	0	0	0	16341	1174	41	3	2337	3	TNS3	7	47408183	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	1775801	47408183	111730480	68	10464											
POM121L12	285877	broad.mit.edu	37	7	53103674	53103674	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:53103674G>C	uc003tpz.3	+	0	326	c.310G>C	c.(310-312)Ggg>Cgg	p.G104R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	104										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCTTCCCGGGGAGACCGC	0.721													C	53103674	G	C	53103674	3	2	153	1	0	0	0	0	1	0	0	0	12241	1116	39	5	312	5	POM121L12	7	53103674	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	5695491	53103674	106034989	69	10465											
EGFR	1956	broad.mit.edu	37	7	55249121	55249121	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:55249121G>C	uc003tqk.3	+	19	2665	c.2419G>C	c.(2419-2421)Gac>Cac	p.D807H	EGFR_uc022adm.1_Missense_Mutation_p.D807H|EGFR_uc010kzg.2_Missense_Mutation_p.D762H|EGFR_uc022adn.1_Missense_Mutation_p.D762H|EGFR_uc011kco.2_Missense_Mutation_p.D754H|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.D42H	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	807	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.K806E(4)|p.D807N(3)|p.K806A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGAACACAAAGACAATATTGG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55249121	G	C	55249121	3	2	153	1	0	0	0	0	1	0	0	0	4967	942	33	5	2761	5	EGFR	7	55249121	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2145447	55249121	103889542	70	10466											
RSBN1L	222194	broad.mit.edu	37	7	77402516	77402516	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:77402516C>T	uc010ldt.1	+	5	1722	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	560						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTGAGCCCCGTGAGATGCT	0.383													T	77402516	C	T	77402516	3	4	153	1	0	0	0	0	1	0	0	0	13697	652	23	2	1700	2	RSBN1L	7	77402516	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	22153395	77402516	81736147	71	10467											
AKAP9	10142	broad.mit.edu	37	7	91668077	91668078	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:91668077_91668078insGA	uc003ulg.3	+	16	4908_4909	c.4683_4684insGA	c.(4681-4686)gttagafs	p.V1561fs	AKAP9_uc003ule.2_Frame_Shift_Ins_p.V1573fs|AKAP9_uc003ulf.3_Frame_Shift_Ins_p.V1561fs|AKAP9_uc003uli.3_Frame_Shift_Ins_p.V1186fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1573					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.S1561*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATTTATAGTTAGACAGTCTGT	0.287			T	BRAF	papillary thyroid								GA	91668078	-	GA	91668077	7	5	153	1	0	1	1	0	0	0	0	0	459	1741	61	0	4749	0	AKAP9	7	91668077	Frame_Shift_Ins	INS	-	TCGA-19-1790-01B-01D-1353-08	14265561	91668077	67470586	72	10468											
ZAN	7455	broad.mit.edu	37	7	100350019	100350019	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:100350019delA	uc003uwj.3	+	13	2456	c.2291delA	c.(2290-2292)gaafs	p.E764fs	ZAN_uc003uwk.3_Frame_Shift_Del_p.E764fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	764	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			ACCCCCACAGAAAAACCCACC	0.527													-	100350019	A	-	100350019	7	5	153	1	0	1	0	1	0	0	0	0	17510	246	9	0	2341	0	ZAN	7	100350019	Frame_Shift_Del	DEL	A	TCGA-19-1790-01B-01D-1353-08	8681942	100350019	58788644	73	10469											
MUC17	140453	broad.mit.edu	37	7	100674925	100674925	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:100674925C>T	uc003uxp.1	+	2	281	c.228C>T	c.(226-228)gtC>gtT	p.V76V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	76						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					CTACAAATGTCGTGGAGCCAA	0.453													T	100674925	C	T	100674925	2	4	153	1	0	0	0	0	0	0	0	1	9974	871	31	2		2	MUC17	7	100674925	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	324906	100674925	58463738	74	10470											
PPP1R3A	5506	broad.mit.edu	37	7	113558410	113558410	+	Silent	SNP	A	A	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:113558410A>C	uc010ljy.1	-	0	673	c.642T>G	c.(640-642)tcT>tcG	p.S214S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	214	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATGTACCAACAGAAGTTTCAT	0.353													C	113558410	A	C	113558410	2	2	153	1	0	0	0	0	0	0	0	1	12371	175	7	5		5	PPP1R3A	7	113558410	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	12883485	113558410	45580253	75	10471											
CALD1	800	broad.mit.edu	37	7	134552504	134552504	+	Missense_Mutation	SNP	G	G	A	rs142583902		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:134552504G>A	uc003vrz.3	+	2	486	c.20G>A	c.(19-21)cGc>cAc	p.R7H	CALD1_uc003vry.3_Missense_Mutation_p.R7H|CALD1_uc003vsb.3_Missense_Mutation_p.R7H|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Missense_Mutation_p.R7H	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	7					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			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						TTTGAGCGTCGCAGAGAACTT	0.433													A	134552504	G	A	134552504	3	1	153	1	0	0	0	0	1	0	0	0	2581	1087	38	1	22	1	CALD1	7	134552504	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	20994094	134552504	24586159	76	10472											
NUP205	23165	broad.mit.edu	37	7	135311087	135311087	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:135311087C>T	uc003vsw.3	+	32	4802	c.4771C>T	c.(4771-4773)Cgc>Tgc	p.R1591C		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1591					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.R1591H(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						CTATGACATGCGCCCAGAAAC	0.423													T	135311087	C	T	135311087	3	4	153	1	0	0	0	0	1	0	0	0	10759	768	27	1	4901	1	NUP205	7	135311087	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	758583	135311087	23827576	77	10473											
FAM115A	9747	broad.mit.edu	37	7	143573699	143573699	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:143573699C>A	uc003wdo.2	-	1	136	c.3G>T	c.(1-3)atG>atT	p.M1I	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.M1I	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	1										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AGGGAGTCGCCATGGCTCTAT	0.473													A	143573699	C	A	143573699	3	1	153	1	0	0	0	0	1	0	0	0	5405	594	21	5	2794	5	FAM115A	7	143573699	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	8262612	143573699	15564964	78	10474											
ANK1	286	broad.mit.edu	37	8	41530099	41530099	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:41530099G>A	uc003xok.3	-	37	4953	c.4869C>T	c.(4867-4869)gaC>gaT	p.D1623D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Silent_p.D1623D|ANK1_uc003xoj.3_Silent_p.D1623D|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Silent_p.D1664D	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1623	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.E1622K(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACTGTGTCGTCCTCCACAA	0.562													A	41530099	G	A	41530099	2	1	153	1	0	0	0	0	0	0	0	1	620	1136	40	1		1	ANK1	8	41530099	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08		41530099	104833923	79	10475											
TRHR	7201	broad.mit.edu	37	8	110131345	110131345	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:110131345G>A	uc003ymz.4	+	1	947	c.858G>A	c.(856-858)gtG>gtA	p.V286V		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	286						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGACTCTAGTGGTTGTCAACT	0.418													A	110131345	G	A	110131345	2	1	153	1	0	0	0	0	0	0	0	1	16477	1335	47	3		3	TRHR	8	110131345	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	68601246	110131345	36232677	80	10476											
TRPS1	7227	broad.mit.edu	37	8	116599737	116599737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:116599737delC	uc003yny.3	-	4	2769	c.2191delG	c.(2191-2193)gaafs	p.E731fs	TRPS1_uc011lhy.2_Frame_Shift_Del_p.E722fs|TRPS1_uc003ynz.3_Frame_Shift_Del_p.E718fs|TRPS1_uc010mcy.3_Frame_Shift_Del_p.E718fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	718	Mediates interaction with GLI3.				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			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)			ATGTCCTGTTCCTGGCAGTGA	0.507									Langer-Giedion syndrome				-	116599737	C	-	116599737	7	5	153	1	0	1	0	1	0	0	0	0	16590	864	30	0	1705	0	TRPS1	8	116599737	Frame_Shift_Del	DEL	C	TCGA-19-1790-01B-01D-1353-08	6468392	116599737	29764285	81	10477											
TRPS1	7227	broad.mit.edu	37	8	116632180	116632180	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:116632180C>T	uc003yny.3	-	2	723	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	TRPS1_uc011lhy.2_Missense_Mutation_p.E40K|TRPS1_uc003ynz.3_Missense_Mutation_p.E36K|TRPS1_uc010mcy.3_Missense_Mutation_p.E36K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	36					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			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)			GCAGAAAATTCTTTGTTCTTT	0.448									Langer-Giedion syndrome				T	116632180	C	T	116632180	3	4	153	1	0	0	0	0	1	0	0	0	16590	922	32	3	3759	3	TRPS1	8	116632180	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	32443	116632180	29731842	82	10478											
COMMD5	28991	broad.mit.edu	37	8	146076337	146076337	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:146076337C>T	uc022bcr.1	-	0	387	c.387G>A	c.(385-387)gtG>gtA	p.V129V	COMMD5_uc003zel.1_Non-coding_Transcript|COMMD5_uc003zem.3_Silent_p.V129V|COMMD5_uc003zen.3_Silent_p.V129V|COMMD5_uc003zeo.4_Silent_p.V129V|COMMD5_uc010mgf.2_Silent_p.V129V	NM_014066	NP_054785	Q9GZQ3	COMD5_HUMAN	Homo sapiens COMM domain containing 5 (COMMD5), transcript variant 1, mRNA.	129						nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TCCCAAATACCACGCTGGCCA	0.652													T	146076337	C	T	146076337	2	4	153	1	0	0	0	0	0	0	0	1	3719	581	21	3		3	COMMD5	8	146076337	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	29444157	146076337	287685	83	10479											
PIGO	84720	broad.mit.edu	37	9	35095288	35095288	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:35095288C>A	uc003zwd.3	-	1	671	c.275G>T	c.(274-276)aGa>aTa	p.R92I	PIGO_uc003zwe.3_Missense_Mutation_p.R92I|PIGO_uc003zwf.3_Missense_Mutation_p.R92I|PIGO_uc003zwc.1_Missense_Mutation_p.R92I|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	92					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGAGGCTCTCTAGGCACGTG	0.582													A	35095288	C	A	35095288	3	1	153	1	0	0	0	0	1	0	0	0	11894	913	32	5	3034	5	PIGO	9	35095288	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		35095288	106118143	84	10480											
OR2K2	26248	broad.mit.edu	37	9	114090010	114090010	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:114090010T>C	uc011lwp.2	-	0	704	c.704A>G	c.(703-705)aAg>aGg	p.K235R		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGAAAAAGCCTTGTTTCTTCC	0.423													C	114090010	T	C	114090010	3	2	153	1	0	0	0	0	1	0	0	0	11005	1609	56	4	249	4	OR2K2	9	114090010	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	78994722	114090010	27123421	85	10481											
STXBP1	6812	broad.mit.edu	37	9	130422360	130422360	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:130422360C>T	uc004brk.2	+	4	495	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	STXBP1_uc004brl.2_Missense_Mutation_p.R100W	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	100					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGCTAAATACCGGGCTGCACA	0.527													T	130422360	C	T	130422360	3	4	153	1	0	0	0	0	1	0	0	0	15351	643	23	2	316	2	STXBP1	9	130422360	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	16332350	130422360	10791071	86	10482											
ITGB1	3688	broad.mit.edu	37	10	33211272	33211272	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:33211272C>A	uc001iws.4	-	8	1177	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D	ITGB1_uc001iwr.4_Missense_Mutation_p.E347D|ITGB1_uc001iwt.4_Missense_Mutation_p.E347D	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	347	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AGTTTTTCAGCTCCTGCAATT	0.348													A	33211272	C	A	33211272	3	1	153	1	0	0	0	0	1	0	0	0	7890	796	28	5	1625	5	ITGB1	10	33211272	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		33211272	102323475	87	10483											
ALOX5	240	broad.mit.edu	37	10	45936078	45936078	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:45936078C>A	uc001jce.3	+	7	1281	c.1182C>A	c.(1180-1182)ttC>ttA	p.F394L	ALOX5_uc009xmt.3_Missense_Mutation_p.F394L|ALOX5_uc010qfg.2_Missense_Mutation_p.F394L|ALOX5_uc021ppr.1_Missense_Mutation_p.F394L	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	394	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ACCCCATTTTCAAGGTACAGC	0.582													A	45936078	C	A	45936078	3	1	153	1	0	0	0	0	1	0	0	0	540	825	29	5	1212	5	ALOX5	10	45936078	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	12724806	45936078	89598669	88	10484											
CDH23	64072	broad.mit.edu	37	10	73405621	73405621	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:73405621G>C	uc001jrx.4	+	11	1558	c.1168G>C	c.(1168-1170)Ggg>Cgg	p.G390R	CDH23_uc001jrw.4_Missense_Mutation_p.G390R|CDH23_uc001jry.3_Missense_Mutation_p.G390R|CDH23_uc001jrz.3_Missense_Mutation_p.G390R|CDH23_uc021psl.1_Missense_Mutation_p.G392R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	392	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTACTTGGTGGGGAACAACTC	0.572													C	73405621	G	C	73405621	3	2	153	1	0	0	0	0	1	0	0	0	3108	1232	43	5	1303	5	CDH23	10	73405621	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	27469543	73405621	62129126	89	10485											
SYNPO2L	79933	broad.mit.edu	37	10	75407262	75407262	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:75407262A>G	uc001jut.4	-	3	2300	c.2148T>C	c.(2146-2148)ccT>ccC	p.P716P	SYNPO2L_uc001jus.4_Silent_p.P492P	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	716	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TAGGAGTCATAGGGGGCGGGG	0.617													G	75407262	A	G	75407262	2	3	153	1	0	0	0	0	0	0	0	1	15455	407	15	4		4	SYNPO2L	10	75407262	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	2001641	75407262	60127485	90	10486											
ZMIZ1	57178	broad.mit.edu	37	10	81061939	81061939	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:81061939C>T	uc001kaf.2	+	17	2667	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F	ZMIZ1_uc001kag.2_Missense_Mutation_p.L575F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	699					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAAGAAGCGCCTCCTGCCCGC	0.627													T	81061939	C	T	81061939	3	4	153	1	0	0	0	0	1	0	0	0	17693	681	24	3	2149	3	ZMIZ1	10	81061939	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	5654677	81061939	54472808	91	10487											
RPP30	10556	broad.mit.edu	37	10	92660375	92660375	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:92660375G>A	uc001khd.2	+	10	1016	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	RPP30_uc009xtx.3_Missense_Mutation_p.R249Q	NM_001104546	NP_001098016	P78346	RPP30_HUMAN	Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.	249					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.R249R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AAGAAACCTCGGCCATCAGAA	0.423													A	92660375	G	A	92660375	3	1	153	1	0	0	0	0	1	0	0	0	13612	1116	39	2	788	2	RPP30	10	92660375	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	11598436	92660375	42874372	92	10488											
PDLIM1	9124	broad.mit.edu	37	10	96998437	96998437	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:96998437G>C	uc001kkh.3	-	5	800	c.691C>G	c.(691-693)Ccc>Gcc	p.P231A		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	231					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGCTTGTTGGGATCCCCTGAA	0.443													C	96998437	G	C	96998437	3	2	153	1	0	0	0	0	1	0	0	0	11679	1174	41	5	306	5	PDLIM1	10	96998437	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4338062	96998437	38536310	93	10489											
DMBT1	1755	broad.mit.edu	37	10	124358594	124358594	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:124358594C>T	uc001lgk.1	+	25	3367	c.3261C>T	c.(3259-3261)gaC>gaT	p.D1087D	DMBT1_uc001lgl.1_Silent_p.D1077D|DMBT1_uc001lgm.1_Silent_p.D588D|DMBT1_uc021qaf.1_Silent_p.D1087D|DMBT1_uc021qag.1_Silent_p.D1077D|DMBT1_uc021qah.1_Silent_p.D588D|DMBT1_uc009xzz.1_Silent_p.D1087D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Silent_p.D48D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1087	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D1087D(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATAGTGAAGACGCTGGTGTCA	0.532													T	124358594	C	T	124358594	2	4	153	1	0	0	0	0	0	0	0	1	4577	535	19	1		1	DMBT1	10	124358594	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	27360157	124358594	11176153	94	10490											
DMBT1	1755	broad.mit.edu	37	10	124390740	124390740	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:124390740C>T	uc001lgk.1	+	45	6008	c.5902C>T	c.(5902-5904)Cga>Tga	p.R1968*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1958*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1340*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R1968*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R1958*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R1340*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1968*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.R688*|DMBT1_uc009yab.1_Nonsense_Mutation_p.R671*|DMBT1_uc009yac.1_Nonsense_Mutation_p.R262*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1968	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R1968L(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCCGGAACCGAGGCTGGTT	0.542													T	124390740	C	T	124390740	4	4	153	1	0	0	0	0	0	1	0	0	4577	644	23	2	6084	2	DMBT1	10	124390740	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	32146	124390740	11144007	95	10491											
DOCK1	1793	broad.mit.edu	37	10	128830507	128830507	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:128830507G>A	uc010qun.2	+	17	1899	c.1835G>A	c.(1834-1836)aGc>aAc	p.S612N	DOCK1_uc001ljt.3_Missense_Mutation_p.S591N	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	591	DHR-1.				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			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)		AGCATGCAGAGCCTTGGGAGC	0.562													A	128830507	G	A	128830507	3	1	153	1	0	0	0	0	1	0	0	0	4684	971	34	3	1842	3	DOCK1	10	128830507	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4439767	128830507	6704240	96	10492											
ART5	116969	broad.mit.edu	37	11	3660908	3660908	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:3660908G>C	uc001lyb.1	-	1	1144	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ART5_uc001lyc.1_Missense_Mutation_p.Q251E|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	251						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACAGGTCTGATTATAGCTC	0.522													C	3660908	G	C	3660908	3	2	153	1	0	0	0	0	1	0	0	0	1000	1299	45	5	136	5	ART5	11	3660908	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		3660908	131345608	97	10493											
HBE1	3046	broad.mit.edu	37	11	5290821	5290821	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:5290821T>C	uc001mal.1	-	1	444	c.178A>G	c.(178-180)Aag>Gag	p.K60E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.K60E	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	60					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTGACCTTGGGGTTGCCC	0.507													C	5290821	T	C	5290821	3	2	153	1	0	0	0	0	1	0	0	0	6980	1821	63	4	273	4	HBE1	11	5290821	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1629913	5290821	129715695	98	10494											
OR52L1	338751	broad.mit.edu	37	11	6008078	6008078	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:6008078G>A	uc001mcd.2	-	0	138	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q27Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAAAGAAGGCTGGGATAG	0.468													A	6008078	G	A	6008078	3	1	153	1	0	0	0	0	1	0	0	0	11125	1000	35	3	910	3	OR52L1	11	6008078	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	717257	6008078	128998438	99	10495											
SLC1A2	6506	broad.mit.edu	37	11	35313908	35313908	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:35313908C>T	uc001mwd.3	-	6	1609	c.1017G>A	c.(1015-1017)gtG>gtA	p.V339V	SLC1A2_uc021qfx.1_Silent_p.V330V|SLC1A2_uc001mwe.3_Silent_p.V330V|SLC1A2_uc010rev.1_Silent_p.V339V	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	339					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V339G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TTTTCCTGGTCACTACAAAGT	0.478													T	35313908	C	T	35313908	2	4	153	1	0	0	0	0	0	0	0	1	14432	813	29	3		3	SLC1A2	11	35313908	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	29305830	35313908	99692608	100	10496											
CREB3L1	90993	broad.mit.edu	37	11	46321656	46321656	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:46321656C>T	uc021qil.1	+	1	708	c.273C>T	c.(271-273)agC>agT	p.S91S	CREB3L1_uc021qik.1_Silent_p.S91S	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	91					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACTCCCTGAGCGGCGACTCAG	0.607			T	FUS	myxofibrosarcoma								T	46321656	C	T	46321656	2	4	153	1	0	0	0	0	0	0	0	1	3856	767	27	1		1	CREB3L1	11	46321656	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	11007748	46321656	88684860	101	10497											
LRP4	4038	broad.mit.edu	37	11	46916320	46916320	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:46916320G>A	uc001ndn.4	-	11	1603	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	454					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			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)		CGGTGTGGCAGCACCTGCCGG	0.567													A	46916320	G	A	46916320	2	1	153	1	0	0	0	0	0	0	0	1	8959	962	34	3		3	LRP4	11	46916320	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	594664	46916320	88090196	102	10498											
OR5D14	219436	broad.mit.edu	37	11	55563704	55563704	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:55563704G>C	uc010rim.2	+	0	673	c.673G>C	c.(673-675)Gtg>Ctg	p.V225L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTCATTTTTGTGACTGTACT	0.478													C	55563704	G	C	55563704	3	2	153	1	0	0	0	0	1	0	0	0	11155	1377	48	5	675	5	OR5D14	11	55563704	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	8647384	55563704	79442812	103	10499											
OR6Q1	219952	broad.mit.edu	37	11	57798590	57798590	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:57798590C>T	uc010rjz.2	+	0	166	c.166C>T	c.(166-168)Cga>Tga	p.R56*	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TTTGGACCACCGACTACGGAG	0.478													T	57798590	C	T	57798590	4	4	153	1	0	0	0	0	0	1	0	0	11208	644	23	2	168	2	OR6Q1	11	57798590	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	2234886	57798590	77207926	104	10500											
PLAC1L	219990	broad.mit.edu	37	11	59812205	59812205	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:59812205A>T	uc001nol.3	+	2	490	c.305A>T	c.(304-306)gAt>gTt	p.D102V		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	102						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGGAATATAGATCATGACCCT	0.408													T	59812205	A	T	59812205	3	4	153	1	0	0	0	0	1	0	0	0	12013	333	12	5	315	5	PLAC1L	11	59812205	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	2013615	59812205	75194311	105	10501											
AHNAK	79026	broad.mit.edu	37	11	62299512	62299512	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:62299512T>A	uc001ntl.3	-	4	2677	c.2377A>T	c.(2377-2379)Agc>Tgc	p.S793C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	793					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCTCAATGCTCACATCAGGA	0.502													A	62299512	T	A	62299512	3	1	153	1	0	0	0	0	1	0	0	0	414	1551	54	5	15415	5	AHNAK	11	62299512	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	2487307	62299512	72707004	106	10502											
DPP3	10072	broad.mit.edu	37	11	66252660	66252660	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:66252660C>T	uc001oig.1	+	2	349	c.287C>T	c.(286-288)gCc>gTc	p.A96V	DPP3_uc001oif.1_Missense_Mutation_p.A96V|DPP3_uc010rpe.1_Intron	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	96					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGTCTATGCCGCGGGTGTT	0.592													T	66252660	C	T	66252660	3	4	153	1	0	0	0	0	1	0	0	0	4728	739	26	3	293	3	DPP3	11	66252660	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	3953148	66252660	68753856	107	10503											
MMP7	4316	broad.mit.edu	37	11	102395756	102395756	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:102395756G>A	uc001phb.3	-	3	571	c.524C>T	c.(523-525)aCg>aTg	p.T175M	MMP7_uc009yxd.3_Missense_Mutation_p.T175M	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	175					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		ATGAGCCAGCGTGTTTCCTGG	0.478													A	102395756	G	A	102395756	3	1	153	1	0	0	0	0	1	0	0	0	9667	1145	40	1	291	1	MMP7	11	102395756	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	36143096	102395756	32610760	108	10504											
PPP2R1B	5519	broad.mit.edu	37	11	111631562	111631562	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:111631562C>G	uc001plw.1	-	3	604	c.520G>C	c.(520-522)Gtt>Ctt	p.V174L	PPP2R1B_uc010rwi.1_Missense_Mutation_p.V110L|PPP2R1B_uc001plx.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwl.1_Intron|PPP2R1B_uc010rwj.1_Intron	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	174							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCTGCTTTAACAGCATTTGAT	0.438													G	111631562	C	G	111631562	3	3	153	1	0	0	0	0	1	0	0	0	12383	478	17	5	1556	5	PPP2R1B	11	111631562	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	9235806	111631562	23374954	109	10505											
OR8D1	283159	broad.mit.edu	37	11	124180313	124180313	+	Missense_Mutation	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:124180313G>C	uc010sag.2	-	0	350	c.350C>G	c.(349-351)gCc>gGc	p.A117G		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATATGCCATGGCAGTCAGGAG	0.478													C	124180313	G	C	124180313	3	2	153	1	0	0	0	0	1	0	0	0	11231	1203	42	5	579	5	OR8D1	11	124180313	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	12548751	124180313	10826203	110	10506											
CCDC15	80071	broad.mit.edu	37	11	124910501	124910501	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:124910501T>C	uc001qbm.4	+	15	3009	c.2750T>C	c.(2749-2751)cTa>cCa	p.L917P		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	917						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACTCGGGCACTACATTCATTC	0.393													C	124910501	T	C	124910501	3	2	153	1	0	0	0	0	1	0	0	0	2784	1522	53	4	2808	4	CCDC15	11	124910501	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	730188	124910501	10096015	111	10507											
VWF	7450	broad.mit.edu	37	12	6153612	6153612	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:6153612T>C	uc001qnn.1	-	17	2537	c.2287A>G	c.(2287-2289)Agg>Ggg	p.R763G	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	763					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GATAGGCTCCTTTTGCCTCGA	0.522													C	6153612	T	C	6153612	3	2	153	1	0	0	0	0	1	0	0	0	17243	1608	56	4	6294	4	VWF	12	6153612	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08		6153612	127698283	112	10508											
A2M	2	broad.mit.edu	37	12	9251275	9251275	+	Silent	SNP	G	G	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:9251275G>C	uc001qvk.1	-	14	1892	c.1779C>G	c.(1777-1779)tcC>tcG	p.S593S	A2M_uc009zgk.1_Silent_p.S443S	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	593					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGGCGCAGACGGACTGAGGAG	0.582													C	9251275	G	C	9251275	2	2	153	1	0	0	0	0	0	0	0	1	4	1103	39	5		5	A2M	12	9251275	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3097663	9251275	124600620	113	10509											
MLL2	8085	broad.mit.edu	37	12	49416568	49416568	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:49416568C>A	uc001rta.4	-	50	16143	c.16143G>T	c.(16141-16143)gtG>gtT	p.V5381V		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5381					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ACTTGGAGTGCACAAACTGCT	0.587			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	49416568	C	A	49416568	2	1	153	1	0	0	0	0	0	0	0	1	9621	697	25	5		5	MLL2	12	49416568	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	40165293	49416568	84435327	114	10510											
KRT84	3890	broad.mit.edu	37	12	52771859	52771859	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:52771859G>A	uc001sah.1	-	8	1810	c.1762C>T	c.(1762-1764)Cgc>Tgc	p.R588C		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	588	Tail.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACAAAGCGGACGCTGGAG	0.677													A	52771859	G	A	52771859	3	1	153	1	0	0	0	0	1	0	0	0	8498	1116	39	2	44	2	KRT84	12	52771859	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3355291	52771859	81080036	115	10511											
KRT74	121391	broad.mit.edu	37	12	52960950	52960950	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:52960950C>T	uc001sap.1	-	8	1441	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	465	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTGCTGATGACAGCTGAGGAG	0.607													T	52960950	C	T	52960950	3	4	153	1	0	0	0	0	1	0	0	0	8487	478	17	3	200	3	KRT74	12	52960950	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	189091	52960950	80890945	116	10512											
ZBTB39	9880	broad.mit.edu	37	12	57397937	57397937	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:57397937G>T	uc001sml.2	-	1	918	c.765C>A	c.(763-765)ttC>ttA	p.F255L	ZBTB39_uc021qzg.1_Missense_Mutation_p.F255L	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGTTTTTACTGAAGTCTCCAT	0.517													T	57397937	G	T	57397937	3	4	153	1	0	0	0	0	1	0	0	0	17537	1281	45	5	1377	5	ZBTB39	12	57397937	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4436987	57397937	76453958	117	10513											
OS9	10956	broad.mit.edu	37	12	58112083	58112083	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:58112083G>A	uc001spj.3	+	10	1496	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	OS9_uc010srx.2_Missense_Mutation_p.R224Q|OS9_uc001spk.3_Missense_Mutation_p.R430Q|OS9_uc001spl.3_Missense_Mutation_p.R430Q|OS9_uc001spm.3_Missense_Mutation_p.R430Q|OS9_uc001spn.3_Missense_Mutation_p.R431Q|OS9_uc010sry.2_Missense_Mutation_p.R398Q|OS9_uc010srz.2_Missense_Mutation_p.R371Q	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	430					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	p.R430Q(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			gaggatgaACGGCAGTTACTG	0.547													A	58112083	G	A	58112083	3	1	153	1	0	0	0	0	1	0	0	0	11272	1116	39	2	1331	2	OS9	12	58112083	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	714146	58112083	75739812	118	10514											
PAH	5053	broad.mit.edu	37	12	103246597	103246597	+	Missense_Mutation	SNP	C	C	T	rs62508698		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:103246597C>T	uc001tjq.1	-	6	1311	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	280			E -> K (in PKU; haplotypes 1,2,4,16,38; partial residual activity).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.P279L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTCACGGTTCGGGGGTATAC	0.547													T	103246597	C	T	103246597	3	4	153	1	0	0	0	0	1	0	0	0	11394	893	31	2	548	2	PAH	12	103246597	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	45134514	103246597	30605298	119	10515											
TCTN2	79867	broad.mit.edu	37	12	124156084	124156084	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:124156084G>A	uc001ufp.3	+	1	241	c.113G>A	c.(112-114)gGc>gAc	p.G38D	TCTN2_uc009zya.3_Missense_Mutation_p.G38D	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	38					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGAATGTCCGGCCCTGCGGTC	0.617													A	124156084	G	A	124156084	3	1	153	1	0	0	0	0	1	0	0	0	15720	1203	42	3	119	3	TCTN2	12	124156084	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	20909487	124156084	9695811	120	10516											
RNF17	56163	broad.mit.edu	37	13	25363875	25363875	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:25363875C>A	uc001upr.3	+	8	941	c.900C>A	c.(898-900)aaC>aaA	p.N300K	RNF17_uc010tdd.1_Missense_Mutation_p.N159K|RNF17_uc010tde.2_Missense_Mutation_p.N300K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N239K|RNF17_uc001upq.1_Missense_Mutation_p.N300K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	300					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)		GTATGTTCAACAATATGGGAA	0.308													A	25363875	C	A	25363875	3	1	153	1	0	0	0	0	1	0	0	0	13461	477	17	5	934	5	RNF17	13	25363875	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		25363875	89806003	121	10517											
BRCA2	675	broad.mit.edu	37	13	32903619	32903619	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:32903619A>T	uc001uub.1	+	7	898	c.671A>T	c.(670-672)gAt>gTt	p.D224V	BRCA2_uc001uua.1_Missense_Mutation_p.D101V	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	224					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTCCTCATGATACTACTGCT	0.259			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			T	32903619	A	T	32903619	3	4	153	1	0	0	0	0	1	0	0	0	1499	333	12	5	697	5	BRCA2	13	32903619	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	7539744	32903619	82266259	122	10518											
TUBGCP3	10426	broad.mit.edu	37	13	113181294	113181294	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:113181294A>T	uc001vse.1	-	12	1704	c.1517T>A	c.(1516-1518)aTg>aAg	p.M506K	TUBGCP3_uc010tjq.1_Missense_Mutation_p.M496K|TUBGCP3_uc001vsf.3_Missense_Mutation_p.M506K	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	506					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CACAGCTATCATCTTTGTAGT	0.413													T	113181294	A	T	113181294	3	4	153	1	0	0	0	0	1	0	0	0	16764	217	8	5	1246	5	TUBGCP3	13	113181294	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	80277675	113181294	1988584	123	10519											
TGM1	7051	broad.mit.edu	37	14	24729739	24729739	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:24729739C>T	uc001wod.3	-	3	798	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	225			R -> H (in ARCI-TGM1).|R -> P (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGATTGTGTGCGGACTGTGAA	0.587													T	24729739	C	T	24729739	3	4	153	1	0	0	0	0	1	0	0	0	15826	768	27	1	1827	1	TGM1	14	24729739	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		24729739	82619801	124	10520											
NYNRIN	57523	broad.mit.edu	37	14	24886187	24886187	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:24886187G>A	uc001wpf.4	+	8	5550	c.5232G>A	c.(5230-5232)ctG>ctA	p.L1744L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1744	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			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						TGCCTTTGCTGCACCTGGCCT	0.622													A	24886187	G	A	24886187	2	1	153	1	0	0	0	0	0	0	0	1	10796	1306	46	3		3	NYNRIN	14	24886187	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	156448	24886187	82463353	125	10521											
FOXA1	3169	broad.mit.edu	37	14	38061688	38061688	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:38061688C>T	uc001wuf.3	-	1	613	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	FOXA1_uc010tpz.2_Missense_Mutation_p.V68M	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	101					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)		ATGGCCGTCACGCCGGCCGCA	0.741													T	38061688	C	T	38061688	3	4	153	1	0	0	0	0	1	0	0	0	5989	536	19	1	1121	1	FOXA1	14	38061688	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	13175501	38061688	69287852	126	10522											
PPM1A	5494	broad.mit.edu	37	14	60749967	60749967	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:60749967A>G	uc001xew.4	+	1	861	c.765A>G	c.(763-765)gtA>gtG	p.V255V	PPM1A_uc010apn.3_Silent_p.V182V|PPM1A_uc001xex.4_Silent_p.V182V|PPM1A_uc001xey.4_Silent_p.V182V	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	182					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GTGGCTCTGTAATGATTCAGC	0.443													G	60749967	A	G	60749967	2	3	153	1	0	0	0	0	0	0	0	1	12335	349	13	4		4	PPM1A	14	60749967	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	22688279	60749967	46599573	127	10523											
AHNAK2	113146	broad.mit.edu	37	14	105409035	105409035	+	Silent	SNP	A	A	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:105409035A>G	uc010axc.1	-	6	12873	c.12753T>C	c.(12751-12753)gaT>gaC	p.D4251D	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D4151D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4251						nucleus				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)			GGGTCATCACATCCGCCTTGG	0.642													G	105409035	A	G	105409035	2	3	153	1	0	0	0	0	0	0	0	1	415	214	8	4		4	AHNAK2	14	105409035	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	44659068	105409035	1940505	128	10524											
GABRB3	2562	broad.mit.edu	37	15	26866466	26866466	+	Silent	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:26866466C>G	uc001zbb.3	-	4	727	c.624G>C	c.(622-624)ggG>ggC	p.G208G	GABRB3_uc021sgg.1_Silent_p.G81G|GABRB3_uc021sgh.1_Silent_p.G67G|GABRB3_uc001zaz.3_Silent_p.G152G|GABRB3_uc001zba.3_Silent_p.G152G|GABRB3_uc001zbc.3_Non-coding_Transcript	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	152					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.G152G(2)|p.G208G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGACCTGAGCCCATACAGCA	0.448													G	26866466	C	G	26866466	2	3	153	1	0	0	0	0	0	0	0	1	6168	726	26	5		5	GABRB3	15	26866466	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08		26866466	75664926	129	10525											
TCF12	6938	broad.mit.edu	37	15	57543615	57543615	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:57543615C>G	uc002aec.3	+	13	1466	c.1182C>G	c.(1180-1182)caC>caG	p.H394Q	TCF12_uc010ugm.1_Missense_Mutation_p.H446Q|TCF12_uc010ugn.1_Missense_Mutation_p.H390Q|TCF12_uc002aea.3_Missense_Mutation_p.H394Q|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.H394Q|TCF12_uc002aed.3_Missense_Mutation_p.H394Q|TCF12_uc010ugo.2_Missense_Mutation_p.H158Q|TCF12_uc002aee.3_Missense_Mutation_p.H224Q|TCF12_uc010bft.3_Missense_Mutation_p.H224Q|TCF12_uc010ugp.2_Missense_Mutation_p.H28Q|TCF12_uc010ugq.2_Missense_Mutation_p.H28Q|TCF12_uc010ugr.1_5'Flank	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	394					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACTCACTCCACTCCCTGGTAA	0.448			T	TEC	extraskeletal myxoid chondrosarcoma								G	57543615	C	G	57543615	3	3	153	1	0	0	0	0	1	0	0	0	15684	564	20	5	1305	5	TCF12	15	57543615	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	30677149	57543615	44987777	130	10526											
AQP9	366	broad.mit.edu	37	15	58476317	58476317	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:58476317C>T	uc002aez.2	+	5	1228	c.871C>T	c.(871-873)Ctc>Ttc	p.L291F	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.L226F	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	291					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GAAATATGAACTCAGTGTCAT	0.438													T	58476317	C	T	58476317	3	4	153	1	0	0	0	0	1	0	0	0	833	565	20	3	893	3	AQP9	15	58476317	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	932702	58476317	44055075	131	10527											
BNC1	646	broad.mit.edu	37	15	83933192	83933192	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:83933192C>G	uc002bjt.1	-	3	899	c.811G>C	c.(811-813)Gac>Cac	p.D271H	BNC1_uc010uos.1_Missense_Mutation_p.D259H	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	271					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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						TGACTTTGGTCATGACCCTGC	0.488													G	83933192	C	G	83933192	3	3	153	1	0	0	0	0	1	0	0	0	1474	826	29	5	2181	5	BNC1	15	83933192	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	25456875	83933192	18598200	132	10528											
CHSY1	22856	broad.mit.edu	37	15	101775678	101775678	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:101775678G>T	uc021sxt.1	-	1	901	c.425C>A	c.(424-426)tCc>tAc	p.S142Y		NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	142					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGCGGGTAGGAGTCGTCCAC	0.483													T	101775678	G	T	101775678	3	4	153	1	0	0	0	0	1	0	0	0	3412	1174	41	5	1991	5	CHSY1	15	101775678	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	17842486	101775678	755714	133	10529											
PTX4	390667	broad.mit.edu	37	16	1537375	1537375	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:1537375A>T	uc010uvf.2	-	1	723	c.723T>A	c.(721-723)agT>agA	p.S241R		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	246						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGCAGTCCCACTGAGTACCC	0.677													T	1537375	A	T	1537375	3	4	153	1	0	0	0	0	1	0	0	0	12823	156	6	5	705	5	PTX4	16	1537375	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08		1537375	88817378	134	10530											
PKD1	5310	broad.mit.edu	37	16	2160687	2160687	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:2160687C>T	uc002cos.1	-	14	4690	c.4481G>A	c.(4480-4482)cGc>cAc	p.R1494H	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1494H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1494	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGGCGGGGCGCCCACGGCC	0.652													T	2160687	C	T	2160687	3	4	153	1	0	0	0	0	1	0	0	0	11963	768	27	1	8558	1	PKD1	16	2160687	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	623312	2160687	88194066	135	10531											
ADCY7	113	broad.mit.edu	37	16	50349362	50349362	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:50349362G>T	uc002egd.1	+	24	3457	c.3189G>T	c.(3187-3189)agG>agT	p.R1063S		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	1063					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGAGCTGAGGACTTACTTTG	0.572													T	50349362	G	T	50349362	3	4	153	1	0	0	0	0	1	0	0	0	299	1165	41	5	3287	5	ADCY7	16	50349362	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	48188675	50349362	40005391	136	10532											
E2F4	1874	broad.mit.edu	37	16	67226947	67226947	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:67226947C>G	uc002erz.3	+	2	344	c.281C>G	c.(280-282)gCt>gGt	p.A94G	EXOC3L1_uc002erv.1_5'Flank|EXOC3L1_uc002erw.1_5'Flank|EXOC3L1_uc002erx.1_5'Flank|EXOC3L1_uc010vje.1_5'Flank|EXOC3L1_uc002ery.1_5'Flank	NM_001950	NP_001941	Q16254	E2F4_HUMAN	Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.	94	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CGGGAGATTGCTGACAAACTG	0.612													G	67226947	C	G	67226947	3	3	153	1	0	0	0	0	1	0	0	0	4869	797	28	5	291	5	E2F4	16	67226947	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	16877585	67226947	23127806	137	10533											
C17orf100	388327	broad.mit.edu	37	17	6555309	6555309	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:6555309C>A	uc010clp.1	+	0	251	c.76C>A	c.(76-78)Cgc>Agc	p.R26S	MED31_uc002gdg.4_5'Flank|MED31_uc002gdh.4_5'Flank	NM_001105520	NP_001098990	D3DTM5	D3DTM5_HUMAN	Homo sapiens chromosome 17 open reading frame 100 (C17orf100), mRNA.	26																	GTCCACGGTCCGCGTGGAGAC	0.736													A	6555309	C	A	6555309	3	1	153	1	0	0	0	0	1	0	0	0	1847	652	23	5	78	5	C17orf100	17	6555309	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		6555309	74639901	138	10534											
SLFN13	146857	broad.mit.edu	37	17	33771684	33771684	+	Missense_Mutation	SNP	C	C	T	rs148604980		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:33771684C>T	uc002hjk.1	-	0	1346	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	SLFN13_uc010wch.1_Missense_Mutation_p.R339H|SLFN13_uc002hjl.2_Missense_Mutation_p.R339H|SLFN13_uc002hjm.2_Missense_Mutation_p.R8H|SLFN13_uc010ctt.2_Missense_Mutation_p.R21H	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	339						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGTCAAGGGGCGGATGTACTT	0.488													T	33771684	C	T	33771684	3	4	153	1	0	0	0	0	1	0	0	0	14736	768	27	1	1693	1	SLFN13	17	33771684	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	27216375	33771684	47423526	139	10535											
IKZF3	22806	broad.mit.edu	37	17	37985642	37985642	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:37985642C>G	uc002hsu.3	-	2	223	c.161G>C	c.(160-162)gGa>gCa	p.G54A	IKZF3_uc002htd.3_Intron|IKZF3_uc010cwd.3_Missense_Mutation_p.G54A|IKZF3_uc002hsv.3_Intron|IKZF3_uc010cwe.3_Missense_Mutation_p.G54A|IKZF3_uc010cwf.3_Missense_Mutation_p.G54A|IKZF3_uc010cwg.3_Missense_Mutation_p.G54A|IKZF3_uc002hsw.3_Missense_Mutation_p.G54A|IKZF3_uc002hsx.3_Missense_Mutation_p.G54A|IKZF3_uc002hsy.3_Missense_Mutation_p.G54A|IKZF3_uc002hsz.3_Missense_Mutation_p.G54A|IKZF3_uc002hta.3_Missense_Mutation_p.G54A|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.G54A|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	54					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			CGGCTCACCTCCTATGTCTTC	0.428													G	37985642	C	G	37985642	3	3	153	1	0	0	0	0	1	0	0	0	7616	855	30	5	1392	5	IKZF3	17	37985642	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4213958	37985642	43209568	140	10536											
NAGS	162417	broad.mit.edu	37	17	42085912	42085912	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:42085912C>A	uc010czn.3	+	6	1572	c.1572C>A	c.(1570-1572)aaC>aaA	p.N524K	NAGS_uc002ies.3_Missense_Mutation_p.N516K|NAGS_uc002iet.3_Missense_Mutation_p.N140K	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	Homo sapiens N-acetylglutamate synthase (NAGS), mRNA.	516	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	AGTTGGTCAACCACGCCAAGG	0.557													A	42085912	C	A	42085912	3	1	153	1	0	0	0	0	1	0	0	0	10145	506	18	5	1574	5	NAGS	17	42085912	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4100270	42085912	39109298	141	10537											
SEPT4	5414	broad.mit.edu	37	17	56603127	56603127	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:56603127C>T	uc010wnx.2	-	4	657	c.512G>A	c.(511-513)gGc>gAc	p.G171D	SEPT4_uc002iwk.2_Missense_Mutation_p.G9D|SEPT4_uc010wnw.2_Missense_Mutation_p.G9D|SEPT4_uc002iwl.2_Missense_Mutation_p.G9D|SEPT4_uc002iwm.2_Missense_Mutation_p.G156D|SEPT4_uc002iwo.2_Missense_Mutation_p.G137D|SEPT4_uc002iwp.2_Missense_Mutation_p.G137D|SEPT4_uc010wny.2_Missense_Mutation_p.G148D|SEPT4_uc010dcy.2_Missense_Mutation_p.G38D	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	156					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R171R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGATTTGCCCAGGCCAGA	0.502													T	56603127	C	T	56603127	3	4	153	1	0	0	0	0	1	0	0	0	14066	739	26	3	1090	3	SEPT4	17	56603127	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	14517215	56603127	24592083	142	10538											
CD7	924	broad.mit.edu	37	17	80274632	80274632	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:80274632C>T	uc002kel.1	-	1	417	c.308G>A	c.(307-309)cGc>cAc	p.R103H	CD7_uc010din.3_Missense_Mutation_p.R103H|CD7_uc010wvk.1_Missense_Mutation_p.R103H	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	103	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CAGCTGCAGGCGGTGCATGGT	0.612													T	80274632	C	T	80274632	3	4	153	1	0	0	0	0	1	0	0	0	3032	768	27	1	426	1	CD7	17	80274632	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	23671505	80274632	920578	143	10539											
B3GNTL1	146712	broad.mit.edu	37	17	80915279	80915279	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:80915279C>G	uc002kgg.1	-	8	831	c.817G>C	c.(817-819)Ggg>Cgg	p.G273R	B3GNTL1_uc002kgf.1_Missense_Mutation_p.G162R|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	273							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGCCGGCGCCCCTGCTTGCCA	0.692													G	80915279	C	G	80915279	3	3	153	1	0	0	0	0	1	0	0	0	1265	623	22	5	284	5	B3GNTL1	17	80915279	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	640647	80915279	279931	144	10540											
SMCHD1	23347	broad.mit.edu	37	18	2700592	2700592	+	Missense_Mutation	SNP	A	A	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:2700592A>T	uc002klm.4	+	10	1587	c.1398A>T	c.(1396-1398)agA>agT	p.R466S	SMCHD1_uc002klk.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	466					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGCAGCTAGAGGGAAAAGGC	0.303													T	2700592	A	T	2700592	3	4	153	1	0	0	0	0	1	0	0	0	14788	301	11	5	1440	5	SMCHD1	18	2700592	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08		2700592	75376656	145	10541											
C18orf8	29919	broad.mit.edu	37	18	21089223	21089223	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:21089223C>G	uc021uie.1	+	4	509	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Intron|C18orf8_uc010xaw.1_Intron	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	130										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATAACAGATCAAGGAATCGA	0.294													G	21089223	C	G	21089223	3	3	153	1	0	0	0	0	1	0	0	0	1907	827	29	5	406	5	C18orf8	18	21089223	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	18388631	21089223	56988025	146	10542											
DSG4	147409	broad.mit.edu	37	18	28968938	28968938	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:28968938G>A	uc002kwr.2	+	4	609	c.474G>A	c.(472-474)tcG>tcA	p.S158S	DSG4_uc002kwq.2_Silent_p.S158S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	158	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S158L(1)		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)			CAGTCTTTTCGCAAAGTGTAT	0.413													A	28968938	G	A	28968938	2	1	153	1	0	0	0	0	0	0	0	1	4779	1074	38	1		1	DSG4	18	28968938	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	7879715	28968938	49108310	147	10543											
NOL4	8715	broad.mit.edu	37	18	31432915	31432915	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:31432915G>A	uc010dmi.3	-	10	2106	c.1808C>T	c.(1807-1809)cCa>cTa	p.P603L	NOL4_uc010xbs.2_Missense_Mutation_p.P318L|NOL4_uc002kxr.4_Missense_Mutation_p.P375L|NOL4_uc010xbt.2_Missense_Mutation_p.P529L|NOL4_uc010dmh.3_Missense_Mutation_p.P465L|NOL4_uc010xbu.2_Missense_Mutation_p.P539L|NOL4_uc002kxt.4_Missense_Mutation_p.P501L	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	603						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GATTTCAGTTGGACTCAGCTG	0.448													A	31432915	G	A	31432915	3	1	153	1	0	0	0	0	1	0	0	0	10524	1348	47	3	112	3	NOL4	18	31432915	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2463977	31432915	46644333	148	10544											
MYO5B	4645	broad.mit.edu	37	18	47405384	47405384	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:47405384G>T	uc002leb.2	-	23	3495	c.3207C>A	c.(3205-3207)aaC>aaA	p.N1069K	MYO5B_uc002lea.2_Missense_Mutation_p.N210K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1069					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTTCACAAGGTTCTGGTACC	0.488													T	47405384	G	T	47405384	3	4	153	1	0	0	0	0	1	0	0	0	10079	1252	44	5	2407	5	MYO5B	18	47405384	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	15972469	47405384	30671864	149	10545											
CCBE1	147372	broad.mit.edu	37	18	57105364	57105364	+	Silent	SNP	C	C	T	rs144169027		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:57105364C>T	uc002lib.3	-	9	1036	c.966G>A	c.(964-966)gcG>gcA	p.A322A	CCBE1_uc010dpq.3_Silent_p.A51A|CCBE1_uc002lia.3_Silent_p.A175A	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	322	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGGGCCCAGGCGCTCCTCTCT	0.507													T	57105364	C	T	57105364	2	4	153	1	0	0	0	0	0	0	0	1	2731	755	27	1		1	CCBE1	18	57105364	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	9699980	57105364	20971884	150	10546											
TNFRSF11A	8792	broad.mit.edu	37	18	60033975	60033975	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:60033975C>T	uc002lin.3	+	7	803	c.765C>T	c.(763-765)ggC>ggT	p.G255G	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	255					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AGGCTTGTGGCCGCCTAAGTG	0.403													T	60033975	C	T	60033975	2	4	153	1	0	0	0	0	0	0	0	1	16281	726	26	3		3	TNFRSF11A	18	60033975	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	2928611	60033975	18043273	151	10547											
RTTN	25914	broad.mit.edu	37	18	67718720	67718720	+	Silent	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:67718720G>T	uc002lkp.2	-	38	5318	c.5250C>A	c.(5248-5250)ctC>ctA	p.L1750L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.L838L|RTTN_uc010dqp.2_Silent_p.L2L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1750							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTTCCTCAGGAGCATGGCCA	0.408													T	67718720	G	T	67718720	2	4	153	1	0	0	0	0	0	0	0	1	13737	1161	41	5		5	RTTN	18	67718720	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	7684745	67718720	10358528	152	10548											
SALL3	27164	broad.mit.edu	37	18	76757007	76757007	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:76757007delC	uc002lmt.3	+	2	3588	c.3588delC	c.(3586-3588)ttcfs	p.F1196fs	SALL3_uc010dra.3_Frame_Shift_Del_p.F731fs	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTGAAATGTTCCAGAAGGACC	0.577													-	76757007	C	-	76757007	7	5	153	1	0	1	0	1	0	0	0	0	13812	854	30	0	3598	0	SALL3	18	76757007	Frame_Shift_Del	DEL	C	TCGA-19-1790-01B-01D-1353-08	9038287	76757007	1320241	153	10549											
TCF3	6929	broad.mit.edu	37	19	1619469	1619469	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:1619469C>G	uc002ltr.3	-	14	1241	c.1172G>C	c.(1171-1173)aGt>aCt	p.S391T	TCF3_uc002lto.3_Splice_Site_p.S152_splice|TCF3_uc002ltt.4_Missense_Mutation_p.S391T|TCF3_uc002ltq.3_Missense_Mutation_p.S340T|TCF3_uc002lts.1_Missense_Mutation_p.S307T|TCF3_uc010dso.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	391	Leucine-zipper.				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TTCTATCTTACTCTGCTGCAG	0.682			T	"PBX1, HLF, TFPT"	pre B-ALL								G	1619469	C	G	1619469	3	3	153	1	0	0	0	0	1	0	0	0	15691	565	20	5	1043	5	TCF3	19	1619469	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		1619469	57509514	154	10550											
RFX2	5990	broad.mit.edu	37	19	6007158	6007158	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:6007158C>T	uc002meb.3	-	11	1536	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T	RFX2_uc002mec.3_Missense_Mutation_p.A398T|AX748210_uc002med.1_3'UTR	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCAGGACGGCGCCCTCGGGG	0.662													T	6007158	C	T	6007158	3	4	153	1	0	0	0	0	1	0	0	0	13263	768	27	1	932	1	RFX2	19	6007158	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4387689	6007158	53121825	155	10551											
MAN2B1	4125	broad.mit.edu	37	19	12757445	12757445	+	Missense_Mutation	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:12757445C>A	uc002mub.2	-	23	3101	c.3025G>T	c.(3025-3027)Gtg>Ttg	p.V1009L	MAN2B1_uc010dyv.1_Missense_Mutation_p.V1008L	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	1009					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAACCATCCACCTCCTTCCAT	0.602													A	12757445	C	A	12757445	3	1	153	1	0	0	0	0	1	0	0	0	9216	507	18	5	14	5	MAN2B1	19	12757445	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	6750287	12757445	46371538	156	10552											
DCAF15	90379	broad.mit.edu	37	19	14065391	14065391	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:14065391G>A	uc002mxt.3	+	2	290	c.284G>A	c.(283-285)aGc>aAc	p.S95N	PODNL1_uc010xnj.2_5'Flank|PODNL1_uc002mxs.3_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	95								p.T94T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCTACACCAGCAGCAGTGGG	0.582													A	14065391	G	A	14065391	3	1	153	1	0	0	0	0	1	0	0	0	4267	971	34	3	294	3	DCAF15	19	14065391	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	1307946	14065391	45063592	157	10553											
MAP1S	55201	broad.mit.edu	37	19	17844118	17844118	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:17844118C>T	uc002nhe.1	+	5	2914	c.2905C>T	c.(2905-2907)Cag>Tag	p.Q969*	MAP1S_uc010xpv.1_Nonsense_Mutation_p.Q943*	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	969	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGTTCTTCCAGCGCGTGCG	0.687													T	17844118	C	T	17844118	4	4	153	1	0	0	0	0	0	1	0	0	9234	595	21	3	2927	3	MAP1S	19	17844118	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	3778727	17844118	41284865	158	10554											
ATP13A1	57130	broad.mit.edu	37	19	19756301	19756301	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:19756301C>G	uc002nnh.4	-	25	3573	c.3545G>C	c.(3544-3546)tGc>tCc	p.C1182S	GMIP_uc002nnd.3_5'Flank|GMIP_uc010xrb.2_5'Flank|GMIP_uc010xrc.2_5'Flank|ATP13A1_uc002nne.3_Missense_Mutation_p.C322S|ATP13A1_uc002nnf.4_Missense_Mutation_p.C550S|ATP13A1_uc002nng.3_Missense_Mutation_p.C1064S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	1182					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GAGCGCCAGGCAGAAGTCCAG	0.647													G	19756301	C	G	19756301	3	3	153	1	0	0	0	0	1	0	0	0	1123	710	25	5	73	5	ATP13A1	19	19756301	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	1912183	19756301	39372682	159	10555											
GRAMD1A	57655	broad.mit.edu	37	19	35512755	35512755	+	Silent	SNP	C	C	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:35512755C>A	uc010xsf.1	+	14	1755	c.1755C>A	c.(1753-1755)ggC>ggA	p.G585G	GRAMD1A_uc010xse.1_Silent_p.G580G|GRAMD1A_uc002nxk.2_Silent_p.G573G|GRAMD1A_uc002nxl.2_Silent_p.G346G|GRAMD1A_uc002nxn.1_Silent_p.G195G	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	580						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCCGGGCCGGCATTCACACCT	0.711													A	35512755	C	A	35512755	2	1	153	1	0	0	0	0	0	0	0	1	6747	697	25	5		5	GRAMD1A	19	35512755	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	15756454	35512755	23616228	160	10556											
ZNF565	147929	broad.mit.edu	37	19	36673611	36673611	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:36673611G>A	uc002odn.3	-	4	1365	c.1257C>T	c.(1255-1257)taC>taT	p.Y419Y	ZNF565_uc010ees.3_Silent_p.Y354Y|ZNF565_uc002odo.3_Silent_p.Y419Y	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CCTTACATTCGTAGGGTTTGT	0.448													A	36673611	G	A	36673611	2	1	153	1	0	0	0	0	0	0	0	1	17993	1140	40	1		1	ZNF565	19	36673611	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	1160856	36673611	22455372	161	10557											
SIRT2	22933	broad.mit.edu	37	19	39371782	39371782	+	Missense_Mutation	SNP	A	A	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:39371782A>C	uc002ojt.2	-	10	1046	c.705T>G	c.(703-705)ttT>ttG	p.F235L	RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Missense_Mutation_p.F198L|SIRT2_uc002ojs.2_Missense_Mutation_p.F215L|SIRT2_uc002oju.2_Missense_Mutation_p.F198L|SIRT2_uc010egh.2_Missense_Mutation_p.F198L|SIRT2_uc002ojv.2_Missense_Mutation_p.F233L	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	235	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGCTCTCACCAAAAAAGACGA	0.617													C	39371782	A	C	39371782	3	2	153	1	0	0	0	0	1	0	0	0	14338	127	5	5	488	5	SIRT2	19	39371782	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	2698171	39371782	19757201	162	10558											
PSG5	5673	broad.mit.edu	37	19	43689016	43689016	+	Silent	SNP	G	G	A	rs143404539	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:43689016G>A	uc002ovu.3	-	1	479	c.348C>T	c.(346-348)gaC>gaT	p.D116D	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.D116D	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	116	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGGATCCTGCGTCTTCCCGGG	0.438													A	43689016	G	A	43689016	2	1	153	1	0	0	0	0	0	0	0	1	12658	1136	40	1		1	PSG5	19	43689016	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	4317234	43689016	15439967	163	10559											
PRKD2	25865	broad.mit.edu	37	19	47197301	47197301	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:47197301G>A	uc002pfh.3	-	10	1749	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	PRKD2_uc010ekt.3_5'Flank|PRKD2_uc002pfg.3_Silent_p.I312I|PRKD2_uc002pfi.3_Silent_p.I469I|PRKD2_uc002pfj.3_Silent_p.I469I|PRKD2_uc010xye.2_Silent_p.I469I|PRKD2_uc002pfk.3_Silent_p.I312I	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	469	PH.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCAGTGACGATCTCAAAGC	0.647													A	47197301	G	A	47197301	2	1	153	1	0	0	0	0	0	0	0	1	12519	1048	37	2		2	PRKD2	19	47197301	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3508285	47197301	11931682	164	10560											
DHX34	9704	broad.mit.edu	37	19	47879753	47879753	+	Silent	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:47879753C>T	uc010xyn.2	+	11	2884	c.2535C>T	c.(2533-2535)ttC>ttT	p.F845F	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	845						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGCGTCTTCGCTGGCAGCC	0.652													T	47879753	C	T	47879753	2	4	153	1	0	0	0	0	0	0	0	1	4507	883	31	2		2	DHX34	19	47879753	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	682452	47879753	11249230	165	10561											
ZNF649	65251	broad.mit.edu	37	19	52394397	52394397	+	Missense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:52394397C>T	uc002pxy.3	-	4	1318	c.992G>A	c.(991-993)gGc>gAc	p.G331D	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTTGAGATTGCCCTTCTGAAT	0.453													T	52394397	C	T	52394397	3	4	153	1	0	0	0	0	1	0	0	0	18061	739	26	3	529	3	ZNF649	19	52394397	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4514644	52394397	6734586	166	10562											
ZNF347	84671	broad.mit.edu	37	19	53645153	53645153	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:53645153T>A	uc002qbc.2	-	4	1358	c.931A>T	c.(931-933)Atc>Ttc	p.I311F	ZNF347_uc002qbb.2_Missense_Mutation_p.I310F|ZNF347_uc010eql.2_Missense_Mutation_p.I311F	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCAGTATGGATCACCTGATGG	0.388													A	53645153	T	A	53645153	3	1	153	1	0	0	0	0	1	0	0	0	17858	1435	50	5	1595	5	ZNF347	19	53645153	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1250756	53645153	5483830	167	10563											
NLRP7	199713	broad.mit.edu	37	19	55447703	55447703	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:55447703G>A	uc002qih.4	-	5	2302	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	NLRP7_uc010esk.3_Silent_p.I742I|NLRP7_uc002qig.4_Silent_p.I714I|NLRP7_uc002qii.4_Silent_p.I742I|NLRP7_uc010esl.3_Silent_p.I770I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	742							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCCCACTCGATGTGCCCTG	0.552													A	55447703	G	A	55447703	2	1	153	1	0	0	0	0	0	0	0	1	10482	1048	37	2		2	NLRP7	19	55447703	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	1802550	55447703	3681280	168	10564											
ZNF329	79673	broad.mit.edu	37	19	58640193	58640193	+	Silent	SNP	G	G	A	rs116840582	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:58640193G>A	uc002qrn.3	-	3	915	c.678C>T	c.(676-678)acC>acT	p.T226T	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.T226T	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCTTCTCTCCGGTGTGAGTTC	0.433													A	58640193	G	A	58640193	2	1	153	1	0	0	0	0	0	0	0	1	17844	1103	39	2		2	ZNF329	19	58640193	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3192490	58640193	488790	169	10565											
RBCK1	10616	broad.mit.edu	37	20	409649	409649	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr20:409649C>T	uc002wdp.4	+	10	2056	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	RBCK1_uc002wdq.4_Nonsense_Mutation_p.Q413*|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Nonsense_Mutation_p.Q285*	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	455					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GATCGTGGTACAGAAGAAGGA	0.682													T	409649	C	T	409649	4	4	153	1	0	0	0	0	0	1	0	0	13107	479	17	3	1424	3	RBCK1	20	409649	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		409649	62615871	170	10566											
RBPJL	11317	broad.mit.edu	37	20	43936878	43936878	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr20:43936878G>T	uc002xns.3	+	1	190	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	MATN4_uc002xnp.2_5'UTR|MATN4_uc002xnn.2_5'UTR|MATN4_uc002xno.2_5'UTR|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_5'UTR|RBPJL_uc002xnt.3_Missense_Mutation_p.G40C	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	40					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GAGCCTCCCGGGCACTTGGAC	0.642													T	43936878	G	T	43936878	3	4	153	1	0	0	0	0	1	0	0	0	13162	1232	43	5	124	5	RBPJL	20	43936878	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	43527229	43936878	19088642	171	10567											
GGTLC2	91227	broad.mit.edu	37	22	22989259	22989259	+	Missense_Mutation	SNP	T	T	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:22989259T>A	uc010gts.2	+	1	246	c.212T>A	c.(211-213)aTc>aAc	p.I71N	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Missense_Mutation_p.I71N	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	71					glutathione biosynthetic process		gamma-glutamyltransferase activity	p.E70G(1)|p.E70*(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GTCAGCGAGATCCTGTTCAAT	0.592													A	22989259	T	A	22989259	3	1	153	1	0	0	0	0	1	0	0	0	6366	1435	50	5	218	5	GGTLC2	22	22989259	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08		22989259	28315307	172	10568											
PLA2G6	8398	broad.mit.edu	37	22	38541510	38541510	+	Missense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:38541510C>G	uc003auy.1	-	2	496	c.360G>C	c.(358-360)tgG>tgC	p.W120C	PLA2G6_uc003auz.1_Missense_Mutation_p.W120C|PLA2G6_uc003ava.1_Missense_Mutation_p.W120C|PLA2G6_uc003avb.2_Missense_Mutation_p.W120C|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Missense_Mutation_p.W120C	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	120					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGCCACTGACCAGCTGGGGT	0.577													G	38541510	C	G	38541510	3	3	153	1	0	0	0	0	1	0	0	0	12008	508	18	5	2120	5	PLA2G6	22	38541510	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	15552251	38541510	12763056	173	10569											
RANGAP1	5905	broad.mit.edu	37	22	41652054	41652054	+	Missense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:41652054G>T	uc003azs.3	-	8	2514	c.1044C>A	c.(1042-1044)ttC>ttA	p.F348L	RANGAP1_uc003azt.3_Missense_Mutation_p.F348L|RANGAP1_uc003azu.3_Missense_Mutation_p.F348L|RANGAP1_uc011aoz.2_Missense_Mutation_p.F293L	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	348					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCATGTTGAAGCCCTCCA	0.597													T	41652054	G	T	41652054	3	4	153	1	0	0	0	0	1	0	0	0	13033	1281	45	5	747	5	RANGAP1	22	41652054	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3110544	41652054	9652512	174	10570											
SBF1	6305	broad.mit.edu	37	22	50904674	50904674	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:50904674G>A	uc003blh.3	-	7	997	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	SBF1_uc011arx.2_5'UTR|SBF1_uc003bli.2_Missense_Mutation_p.P269S	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	268	DENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGGATGGGCACATAGGTG	0.672													A	50904674	G	A	50904674	3	1	153	1	0	0	0	0	1	0	0	0	13858	1203	42	3	5015	3	SBF1	22	50904674	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	9252620	50904674	399892	175	10571											
NLGN4X	57502	broad.mit.edu	37	X	5811228	5811228	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:5811228G>A	uc010ndi.3	-	6	2656	c.2192C>T	c.(2191-2193)gCg>gTg	p.A731V	NLGN4X_uc004crp.3_Missense_Mutation_p.A714V|NLGN4X_uc010ndh.3_Missense_Mutation_p.A694V|NLGN4X_uc004crq.3_Missense_Mutation_p.A694V|NLGN4X_uc004crr.3_Missense_Mutation_p.A694V|NLGN4X_uc010ndj.3_Missense_Mutation_p.A694V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	694					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.A694V(1)|p.M730V(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTACAGCGCCGCAAAAGCTAA	0.502													A	5811228	G	A	5811228	3	1	153	1	0	0	0	0	1	0	0	0	10464	1087	38	1	373	1	NLGN4X	23	5811228	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		5811228	149459332	176	10572											
VCX3B	425054	broad.mit.edu	37	X	8433516	8433516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:8433516G>T	uc011mht.2	+	1	332	c.25G>T	c.(25-27)Gga>Tga	p.G9*	VCX3B_uc004csd.1_Nonsense_Mutation_p.G9*|VCX3B_uc022bsj.1_5'Flank	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	9						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGAGCCTCGGGACCTCCGGC	0.607													T	8433516	G	T	8433516	4	4	153	1	0	0	0	0	0	1	0	0	17142	1233	43	5	27	5	VCX3B	23	8433516	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2622288	8433516	146837044	177	10573											
DMD	1756	broad.mit.edu	37	X	32503062	32503062	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:32503062T>C	uc004dda.1	-	20	3021	c.2777A>G	c.(2776-2778)cAg>cGg	p.Q926R	DMD_uc004dcz.2_Missense_Mutation_p.Q803R|DMD_uc004dcy.1_Missense_Mutation_p.Q922R|DMD_uc004ddb.1_Missense_Mutation_p.Q918R|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	926					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			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)				CTCTCTGGCCTGCACATCAGA	0.408													C	32503062	T	C	32503062	3	2	153	1	0	0	0	0	1	0	0	0	4580	1580	55	4	8759	4	DMD	23	32503062	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	24069546	32503062	122767498	178	10574											
CXorf22	170063	broad.mit.edu	37	X	36007487	36007487	+	Missense_Mutation	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:36007487G>A	uc004ddj.3	+	15	2831	c.2765G>A	c.(2764-2766)gGc>gAc	p.G922D	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	922										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGGCAGCAGGGCTTCAGTTCT	0.368													A	36007487	G	A	36007487	3	1	153	1	0	0	0	0	1	0	0	0	4102	1203	42	3	2827	3	CXorf22	23	36007487	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3504425	36007487	119263073	179	10575											
ZC4H2	55906	broad.mit.edu	37	X	64140054	64140054	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:64140054T>C	uc004dvu.3	-	2	461	c.305A>G	c.(304-306)aAg>aGg	p.K102R	ZC4H2_uc004dvv.3_Missense_Mutation_p.K79R|ZC4H2_uc022byd.1_Missense_Mutation_p.K79R|ZC4H2_uc022byc.1_Missense_Mutation_p.K79R|ZC4H2_uc011mow.2_Missense_Mutation_p.K102R|ZC4H2_uc011mov.2_Missense_Mutation_p.K79R|ZC4H2_uc004dvw.2_Missense_Mutation_p.K102R	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	102							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTTCAGTGGCTTATACTCATC	0.473													C	64140054	T	C	64140054	3	2	153	1	0	0	0	0	1	0	0	0	17575	1609	56	4	400	4	ZC4H2	23	64140054	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	28132567	64140054	91130506	180	10576											
EDA	1896	broad.mit.edu	37	X	69250324	69250324	+	Silent	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:69250324T>C	uc004dxs.3	+	5	989	c.747T>C	c.(745-747)gcT>gcC	p.A249A	EDA_uc011mpj.2_Silent_p.A249A|EDA_uc004dxr.3_Silent_p.A249A	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	249					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCCAGCCAGCTGTGGTGCATC	0.502											OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	69250324	T	C	69250324	2	2	153	1	0	0	0	0	0	0	0	1	4903	1567	55	4		4	EDA	23	69250324	Silent	SNP	T	TCGA-19-1790-01B-01D-1353-08	5110270	69250324	86020236	181	10577											
CDX4	1046	broad.mit.edu	37	X	72674301	72674301	+	Silent	SNP	G	G	A			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:72674301G>A	uc011mqk.2	+	2	735	c.735G>A	c.(733-735)tcG>tcA	p.S245S		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GTGGAGGCTCGGTGCAAAGTG	0.448													A	72674301	G	A	72674301	2	1	153	1	0	0	0	0	0	0	0	1	3184	1103	39	2		2	CDX4	23	72674301	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3423977	72674301	82596259	182	10578											
RLIM	51132	broad.mit.edu	37	X	73811531	73811531	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:73811531T>C	uc004ebu.3	-	4	1909	c.1619A>G	c.(1618-1620)gAt>gGt	p.D540G	RLIM_uc004ebw.3_Missense_Mutation_p.D540G	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	540					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCATCATCATCCTCATTTAA	0.458													C	73811531	T	C	73811531	3	2	153	1	0	0	0	0	1	0	0	0	13390	1435	50	4	259	4	RLIM	23	73811531	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1137230	73811531	81459029	183	10579											
CYLC1	1538	broad.mit.edu	37	X	83128534	83128534	+	Nonsense_Mutation	SNP	C	C	G			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:83128534C>G	uc004eei.1	+	3	839	c.818C>G	c.(817-819)tCa>tGa	p.S273*	CYLC1_uc004eeh.1_Nonsense_Mutation_p.S272*	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	273					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAGAATAATTCAAAGAATTAT	0.318													G	83128534	C	G	83128534	4	3	153	1	0	0	0	0	0	1	0	0	4141	838	29	5	832	5	CYLC1	23	83128534	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	9317003	83128534	72142026	184	10580											
RPS6KA6	27330	broad.mit.edu	37	X	83361995	83361995	+	Missense_Mutation	SNP	T	T	C			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:83361995T>C	uc004eej.2	-	13	1201	c.1165A>G	c.(1165-1167)Agc>Ggc	p.S389G	RPS6KA6_uc011mqt.2_Missense_Mutation_p.S389G|RPS6KA6_uc011mqu.2_Missense_Mutation_p.S286G	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	389	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCAACAAAGCTGAATCCTTTG	0.343													C	83361995	T	C	83361995	3	2	153	1	0	0	0	0	1	0	0	0	13655	1580	55	4	1108	4	RPS6KA6	23	83361995	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	233461	83361995	71908565	185	10581											
HFM1	164045	broad.mit.edu	37	1	91843657	91843657	+	Silent	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:91843657C>T	uc001doa.4	-	10	1419	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	HFM1_uc010osu.2_Silent_p.Q119Q|HFM1_uc010osv.1_Silent_p.Q124Q|HFM1_uc001doc.1_Silent_p.Q440Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	440	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTTTAAAGTCTGAGAAACAG	0.368													T	91843657	C	T	91843657	2	4	154	1	0	0	0	0	0	0	0	1	7083	912	32	3		3	HFM1	1	91843657	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08		91843657	157406964	1	10582											
LINGO4	339398	broad.mit.edu	37	1	151774511	151774511	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:151774511G>A	uc001ezf.1	-	1	860	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	LINGO4_uc021oyu.1_Silent_p.L224L	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	224						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCCCCGCAGGGCCCCAGCT	0.642													A	151774511	G	A	151774511	2	1	154	1	0	0	0	0	0	0	0	1	8817	991	35	3		3	LINGO4	1	151774511	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	59930854	151774511	97476110	2	10583											
UBQLN4	56893	broad.mit.edu	37	1	156011962	156011962	+	Silent	SNP	G	G	C			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156011962G>C	uc001fna.3	-	7	1356	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L	UBQLN4_uc010pgx.2_Silent_p.L424L	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	444						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGAAGACTGGGAGCTGCAGGC	0.617													C	156011962	G	C	156011962	2	2	154	1	0	0	0	0	0	0	0	1	16896	1161	41	5		5	UBQLN4	1	156011962	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	4237451	156011962	93238659	3	10584											
UBQLN4	56893	broad.mit.edu	37	1	156021545	156021545	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156021545C>G	uc001fna.3	-	1	236	c.212G>C	c.(211-213)gGa>gCa	p.G71A	UBQLN4_uc010pgx.2_Missense_Mutation_p.G71A|LAMTOR2_uc001fnb.3_5'Flank|LAMTOR2_uc010pgy.1_5'Flank	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	71	Ubiquitin-like.					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	p.G71R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GTCCTTGATTCCGTGCTGGTT	0.537													G	156021545	C	G	156021545	3	3	154	1	0	0	0	0	1	0	0	0	16896	855	30	5	1633	5	UBQLN4	1	156021545	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	9583	156021545	93229076	4	10585											
IQGAP3	128239	broad.mit.edu	37	1	156501015	156501015	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156501015G>C	uc001fpf.3	-	32	4203	c.4128C>G	c.(4126-4128)atC>atG	p.I1376M		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1376					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAACTGTATGATATCGGCCA	0.587													C	156501015	G	C	156501015	3	2	154	1	0	0	0	0	1	0	0	0	7816	1280	45	5	791	5	IQGAP3	1	156501015	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	479470	156501015	92749606	5	10586											
NTRK1	4914	broad.mit.edu	37	1	156834161	156834161	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156834161G>A	uc001fqh.1	+	1	284	c.228G>A	c.(226-228)caG>caA	p.Q76Q	NTRK1_uc001fqf.1_Silent_p.Q46Q|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.Q76Q|NTRK1_uc009wsk.1_Silent_p.Q76Q	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	76					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCGAGAACCAGCAGCATCTGC	0.597			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			A	156834161	G	A	156834161	2	1	154	1	0	0	0	0	0	0	0	1	10706	962	34	3		3	NTRK1	1	156834161	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	333146	156834161	92416460	6	10587											
ARHGEF11	9826	broad.mit.edu	37	1	156917714	156917714	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156917714C>T	uc001fqo.3	-	23	3108	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	ARHGEF11_uc010phu.2_Missense_Mutation_p.D106N|ARHGEF11_uc001fqn.3_Missense_Mutation_p.D730N	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	690					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGAGGGTATCTGTGCAGAAC	0.562													T	156917714	C	T	156917714	3	4	154	1	0	0	0	0	1	0	0	0	896	913	32	3	2568	3	ARHGEF11	1	156917714	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	83553	156917714	92332907	7	10588											
F5	2153	broad.mit.edu	37	1	169489788	169489788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:169489788G>A	uc001ggg.1	-	21	6308	c.6163C>T	c.(6163-6165)Cga>Tga	p.R2055*		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2055	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGTTCCAATCGAAGGGTAGGT	0.403													A	169489788	G	A	169489788	4	1	154	1	0	0	0	0	0	1	0	0	5348	1066	37	2	527	2	F5	1	169489788	Nonsense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	12572074	169489788	79760833	8	10589											
LGR6	59352	broad.mit.edu	37	1	202287759	202287759	+	Silent	SNP	C	C	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:202287759C>A	uc001gxu.3	+	17	2328	c.2328C>A	c.(2326-2328)gcC>gcA	p.A776A	LGR6_uc001gxv.3_Silent_p.A724A|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.A637A	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	776						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCACGTGGCCTGGCTCATCT	0.637													A	202287759	C	A	202287759	2	1	154	1	0	0	0	0	0	0	0	1	8758	668	24	5		5	LGR6	1	202287759	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	32797971	202287759	46962862	9	10590											
RASSF5	83593	broad.mit.edu	37	1	206711530	206711530	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:206711530C>T	uc001hed.3	+	1	544	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	RASSF5_uc001hec.1_Missense_Mutation_p.R163C|RASSF5_uc001hee.3_Missense_Mutation_p.R163C	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	163					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGAATGCCGCAGCCTGAT	0.532													T	206711530	C	T	206711530	3	4	154	1	0	0	0	0	1	0	0	0	13089	652	23	2	493	2	RASSF5	1	206711530	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	4423771	206711530	42539091	10	10591											
MAPKAPK2	9261	broad.mit.edu	37	1	206902080	206902080	+	Missense_Mutation	SNP	G	G	A	rs151079567		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:206902080G>A	uc001hem.2	+	1	515	c.305G>A	c.(304-306)cGc>cAc	p.R102H	MAPKAPK2_uc001hel.2_Missense_Mutation_p.R102H	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	102	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CCCAAGGCCCGCAGGGAGGTG	0.622													A	206902080	G	A	206902080	3	1	154	1	0	0	0	0	1	0	0	0	9289	1087	38	1	311	1	MAPKAPK2	1	206902080	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	190550	206902080	42348541	11	10592											
ESRRG	2104	broad.mit.edu	37	1	216737723	216737723	+	Splice_Site	SNP	C	C	G			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:216737723C>G	uc001hkw.2	-	5	874	c.701_splice	c.e5-1	p.Y234_splice	ESRRG_uc009xdp.1_Splice_Site_p.Y211_splice|ESRRG_uc001hky.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkz.2_Splice_Site_p.Y172_splice|ESRRG_uc010puc.2_Splice_Site_p.Y211_splice|ESRRG_uc001hla.2_Splice_Site_p.Y211_splice|ESRRG_uc001hlb.2_Splice_Site_p.Y211_splice|ESRRG_uc010pud.2_Splice_Site_p.Y49_splice|ESRRG_uc021pja.1_Splice_Site|ESRRG_uc001hlc.1_Splice_Site_p.Y211_splice|ESRRG_uc001hld.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkx.2_Missense_Mutation_p.D246H|ESRRG_uc009xdo.2_Splice_Site_p.Y211_splice|ESRRG_uc001hle.2_Splice_Site_p.Y211_splice|ESRRG_uc021piz.1_Splice_Site_p.Y211_splice	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	234					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATCTTGTTATCTGCAGGATCA	0.433													G	216737723	C	G	216737723	5	3	154	1	0	0	0	0	0	0	1	0	5262	927	32	5	688	5	ESRRG	1	216737723	Splice_Site	SNP	C	TCGA-19-2619-01A-01D-1495-08	9835643	216737723	32512898	12	10593											
TSSC1	7260	broad.mit.edu	37	2	3193249	3193249	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:3193249G>A	uc002qxj.2	-	8	1213	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	340							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CGTAGGTGGCGATCACGTTGT	0.657													A	3193249	G	A	3193249	2	1	154	1	0	0	0	0	0	0	0	1	16663	1048	37	2		2	TSSC1	2	3193249	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		3193249	240006124	13	10594											
MAP4K4	9448	broad.mit.edu	37	2	102486218	102486218	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:102486218G>A	uc002tbc.3	+	21	2976	c.2598G>A	c.(2596-2598)ggG>ggA	p.G866G	MAP4K4_uc002tbf.3_Silent_p.G755G|MAP4K4_uc002tbd.3_Silent_p.G758G|MAP4K4_uc010yvy.2_Silent_p.G781G|MAP4K4_uc002tbh.3_Silent_p.G703G|MAP4K4_uc002tbg.3_Silent_p.G785G|MAP4K4_uc002tbi.3_Silent_p.G588G|MAP4K4_uc010yvz.2_Silent_p.G761G|MAP4K4_uc002tbk.3_Silent_p.G240G|MAP4K4_uc021vlq.1_5'UTR|MAP4K4_uc002tbl.3_5'UTR	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	785	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCAGGAAGGGGCTGACGAGT	0.572													A	102486218	G	A	102486218	2	1	154	1	0	0	0	0	0	0	0	1	9262	1219	43	3		3	MAP4K4	2	102486218	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	99292969	102486218	140713155	14	10595											
ALS2CR8	79800	broad.mit.edu	37	2	203806678	203806678	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:203806678C>T	uc002uzo.2	+	2	333	c.53C>T	c.(52-54)tCa>tTa	p.S18L	ALS2CR8_uc002uzn.3_Intron|ALS2CR8_uc002uzm.3_Missense_Mutation_p.S18L|ALS2CR8_uc010zhy.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_Intron|ALS2CR8_uc010zia.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zib.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S18L	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	18										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						GGTGAAGAGTCAAAAACCAGT	0.363													T	203806678	C	T	203806678	3	4	154	1	0	0	0	0	1	0	0	0	555	838	29	3	55	3	ALS2CR8	2	203806678	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	101320460	203806678	39392695	15	10596											
ABI3BP	25890	broad.mit.edu	37	3	100568897	100568897	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:100568897G>A	uc003dun.3	-	14	1452	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	ABI3BP_uc003duo.2_Missense_Mutation_p.T498M	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	456	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCAGGTGTCGTAGGCTGCAT	0.378													A	100568897	G	A	100568897	3	1	154	1	0	0	0	0	1	0	0	0	91	1145	40	1	1944	1	ABI3BP	3	100568897	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08		100568897	97453533	16	10597											
MYH15	22989	broad.mit.edu	37	3	108205332	108205332	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:108205332delA	uc003dxa.1	-	10	1030	c.973delT	c.(973-975)tgcfs	p.C325fs		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	325	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCACAGGAGCAAAAGTGGAAG	0.438													-	108205332	A	-	108205332	7	5	154	1	0	1	0	1	0	0	0	0	10034	130	5	0	4995	0	MYH15	3	108205332	Frame_Shift_Del	DEL	A	TCGA-19-2619-01A-01D-1495-08	7636435	108205332	89817098	17	10598											
ZIC1	7545	broad.mit.edu	37	3	147128425	147128425	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:147128425G>A	uc003ewe.3	+	0	1245	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	176					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			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						CCCGCGACCGGAGCAGTACGG	0.682													A	147128425	G	A	147128425	3	1	154	1	0	0	0	0	1	0	0	0	17675	1175	41	3	528	3	ZIC1	3	147128425	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	38923093	147128425	50894005	18	10599											
POU4F2	5458	broad.mit.edu	37	4	147561770	147561770	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr4:147561770G>A	uc003ikv.3	+	1	1288	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	347					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.R347C(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)					GAGAAGAAGCGCAAGCGCACG	0.622													A	147561770	G	A	147561770	3	1	154	1	0	0	0	0	1	0	0	0	12279	1087	38	1	1046	1	POU4F2	4	147561770	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08		147561770	43592506	19	10600											
ZDHHC11	79844	broad.mit.edu	37	5	825284	825284	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:825284C>T	uc011cma.1	-	7	1402	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	ZDHHC11_uc010itc.3_5'Flank|ZDHHC11_uc010itd.1_Non-coding_Transcript	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	340						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTTACCCGTGCCGTCGAATCC	0.542													T	825284	C	T	825284	3	4	154	1	0	0	0	0	1	0	0	0	17598	739	26	3	240	3	ZDHHC11	5	825284	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		825284	180089976	20	10601											
HTR1A	3350	broad.mit.edu	37	5	63257205	63257205	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:63257205G>A	uc011cqt.2	-	0	342	c.342C>T	c.(340-342)gcC>gcT	p.A114A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	114					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCACGTCGAGGGCGATGAACA	0.607													A	63257205	G	A	63257205	2	1	154	1	0	0	0	0	0	0	0	1	7436	1219	43	3		3	HTR1A	5	63257205	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	62431921	63257205	117658055	21	10602											
PCDHAC2	56143	broad.mit.edu	37	5	140203141	140203141	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:140203141G>A	uc003lhl.2	+	0	1781	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.R594H|PCDHAC2_uc003lhj.1_Missense_Mutation_p.R594H	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	608	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAC	0.697													A	140203141	G	A	140203141	3	1	154	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140203141	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	76945936	140203141	40712119	22	10603											
RGS14	10636	broad.mit.edu	37	5	176794018	176794018	+	Silent	SNP	C	C	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:176794018C>A	uc003mgh.3	+	4	648	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	RGS14_uc003mgf.3_Silent_p.R156R|RGS14_uc003mgg.1_Silent_p.R3R|RGS14_uc003mgi.3_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	156	RGS.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			GGACATGTTTCGGGCACAGCA	0.662													A	176794018	C	A	176794018	2	1	154	1	0	0	0	0	0	0	0	1	13297	875	31	5		5	RGS14	5	176794018	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	36590877	176794018	4121242	23	10604											
PTK7	5754	broad.mit.edu	37	6	43109925	43109925	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:43109925G>A	uc011dve.1	+	12	2001	c.1959G>A	c.(1957-1959)caG>caA	p.Q653Q	PTK7_uc003oub.1_Silent_p.Q645Q|PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.Q605Q|PTK7_uc003oue.1_Silent_p.Q515Q|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	645	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACATCTTCCAGAATGGCTCCC	0.642													A	43109925	G	A	43109925	2	1	154	1	0	0	0	0	0	0	0	1	12765	933	33	3		3	PTK7	6	43109925	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		43109925	128005142	24	10605											
SRF	6722	broad.mit.edu	37	6	43141721	43141721	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:43141721C>T	uc003oui.3	+	1	1125	c.650C>T	c.(649-651)aCc>aTc	p.T217I	SRF_uc011dvf.2_Missense_Mutation_p.T13I	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	217	Involved in dimerization.				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGATTCAGACCTGCCTCAAC	0.557													T	43141721	C	T	43141721	3	4	154	1	0	0	0	0	1	0	0	0	15142	507	18	3	656	3	SRF	6	43141721	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	31796	43141721	127973346	25	10606											
DST	667	broad.mit.edu	37	6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:56566691G>A	uc021zay.1	-	4	562	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DST_uc011dxl.1_Missense_Mutation_p.R135C|DST_uc021zaz.1_Missense_Mutation_p.R106C	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	106	Actin-binding.				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.E146K(1)		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)			CATACCTGGCGTCTTTTCAAA	0.343													A	56566691	G	A	56566691	3	1	154	1	0	0	0	0	1	0	0	0	4783	1160	40	1		1	DST	6	56566691	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	13424970	56566691	114548376	26	10607											
PLG	5340	broad.mit.edu	37	6	161127557	161127557	+	Silent	SNP	C	C	T	rs144100362		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:161127557C>T	uc003qtm.4	+	1	280	c.168C>T	c.(166-168)gaC>gaT	p.D56D	PLG_uc021zhr.1_Silent_p.D56D	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	56	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GTGAGGAGGACGAAGAATTCA	0.413													T	161127557	C	T	161127557	2	4	154	1	0	0	0	0	0	0	0	1	12086	535	19	1		1	PLG	6	161127557	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	104560866	161127557	9987510	27	10608											
ZNF107	51427	broad.mit.edu	37	7	64168371	64168371	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:64168371G>A	uc003ttd.3	+	6	2475	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	ZNF107_uc003tte.3_Silent_p.Q563Q	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTTTAACCAGTCCTCAAACC	0.348													A	64168371	G	A	64168371	2	1	154	1	0	0	0	0	0	0	0	1	17712	1020	36	3		3	ZNF107	7	64168371	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		64168371	94970292	28	10609											
PCLO	27445	broad.mit.edu	37	7	82581607	82581607	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:82581607C>T	uc003uhx.2	-	4	8951	c.8662G>A	c.(8662-8664)Gta>Ata	p.V2888I	PCLO_uc003uhv.2_Missense_Mutation_p.V2888I|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2819					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T2887T(1)		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						CCCTGGGATACGGTGCTATCA	0.463													T	82581607	C	T	82581607	3	4	154	1	0	0	0	0	1	0	0	0	11583	536	19	1	6867	1	PCLO	7	82581607	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	18413236	82581607	76557056	29	10610											
COL1A2	1278	broad.mit.edu	37	7	94043012	94043012	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:94043012G>T	uc003ung.1	+	26	2039	c.1568G>T	c.(1567-1569)gGt>gTt	p.G523V	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	523					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G523S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGCTCCAGGTCCTGATGGA	0.438										HNSCC(75;0.22)			T	94043012	G	T	94043012	3	4	154	1	0	0	0	0	1	0	0	0	3678	1261	44	5	1674	5	COL1A2	7	94043012	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	11461405	94043012	65095651	30	10611											
INTS10	55174	broad.mit.edu	37	8	19690804	19690804	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr8:19690804C>T	uc022asn.1	+	11	1636	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	INTS10_uc003wzj.3_Missense_Mutation_p.T501M	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	501					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAGCTGGCGACGTGCCACTTT	0.602													T	19690804	C	T	19690804	3	4	154	1	0	0	0	0	1	0	0	0	7776	536	19	1	1548	1	INTS10	8	19690804	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		19690804	126673218	31	10612											
ENPP2	5168	broad.mit.edu	37	8	120598445	120598445	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr8:120598445G>A	uc003yos.2	-	15	1590	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	ENPP2_uc011lic.2_5'Flank|ENPP2_uc003yor.2_Missense_Mutation_p.R89C|ENPP2_uc010mdd.2_Missense_Mutation_p.R450C|ENPP2_uc003yot.2_Missense_Mutation_p.R450C	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	450					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCCATCTGCGTTCCACCAAT	0.413													A	120598445	G	A	120598445	3	1	154	1	0	0	0	0	1	0	0	0	5130	1145	40	1	1366	1	ENPP2	8	120598445	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	100907641	120598445	25765577	32	10613											
IFNB1	3456	broad.mit.edu	37	9	21077338	21077338	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr9:21077338G>A	uc003zok.3	-	0	606	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	177					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	GTCTGTTAATGAAGTAAAAGT	0.453													A	21077338	G	A	21077338	2	1	154	1	0	0	0	0	0	0	0	1	7546	1281	45	3		3	IFNB1	9	21077338	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		21077338	120136093	33	10614											
AKR1E2	83592	broad.mit.edu	37	10	4873008	4873008	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:4873008C>T	uc001ihi.3	+	1	296	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	AKR1E2_uc010qam.1_Missense_Mutation_p.R61W|AKR1E2_uc001ihh.1_Missense_Mutation_p.R61W|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Missense_Mutation_p.R61W|AKR1E2_uc009xhw.3_Missense_Mutation_p.R61W	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	61						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.R61W(2)|p.R61L(1)|p.R61R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CGCTGTAAGACGGGAGGATCT	0.507													T	4873008	C	T	4873008	3	4	154	1	0	0	0	0	1	0	0	0	474	527	19	1	187	1	AKR1E2	10	4873008	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		4873008	130661739	34	10615											
ITIH2	3698	broad.mit.edu	37	10	7762869	7762869	+	Silent	SNP	C	C	T	rs144114794		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:7762869C>T	uc001ijs.3	+	6	843	c.681C>T	c.(679-681)ccC>ccT	p.P227P		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	227					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P227P(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCATGTTCCCGACACATTTG	0.453													T	7762869	C	T	7762869	2	4	154	1	0	0	0	0	0	0	0	1	7904	639	23	2		2	ITIH2	10	7762869	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	2889861	7762869	127771878	35	10616											
C10orf68	79741	broad.mit.edu	37	10	33000595	33000595	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:33000595T>C	uc001iwm.1	+	4	591	c.355T>C	c.(355-357)Tca>Cca	p.S119P	C10orf68_uc001iwl.1_Missense_Mutation_p.S151P|C10orf68_uc001iwn.4_Missense_Mutation_p.S143P|C10orf68_uc010qei.1_Missense_Mutation_p.S70P	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	143										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACATCAAGATTCAGTGTCAAA	0.308													C	33000595	T	C	33000595	3	2	154	1	0	0	0	0	1	0	0	0	1613	1783	62	4	445	4	C10orf68	10	33000595	Missense_Mutation	SNP	T	TCGA-19-2619-01A-01D-1495-08	25237726	33000595	102534152	36	10617											
NAV3	89795	broad.mit.edu	37	12	78591133	78591133	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr12:78591133C>G	uc001syp.3	+	34	6571	c.6398C>G	c.(6397-6399)tCt>tGt	p.S2133C	NAV3_uc001syo.3_Missense_Mutation_p.S2111C|NAV3_uc010sub.2_Missense_Mutation_p.S1590C|NAV3_uc009zsf.3_Missense_Mutation_p.S942C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2133						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T2133S(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						CATGTGGGCTCTCTGAGTGAT	0.328										HNSCC(70;0.22)			G	78591133	C	G	78591133	3	3	154	1	0	0	0	0	1	0	0	0	10185	913	32	5	6466	5	NAV3	12	78591133	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		78591133	55260762	37	10618											
PAWR	5074	broad.mit.edu	37	12	80014954	80014954	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr12:80014954G>A	uc001syx.3	-	2	836	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN	Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.	184	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CGCTCTTTCTGCCCTGCTTCA	0.363													A	80014954	G	A	80014954	4	1	154	1	0	0	0	0	0	1	0	0	11477	1328	46	3	492	3	PAWR	12	80014954	Nonsense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	1423821	80014954	53836941	38	10619											
FRY	10129	broad.mit.edu	37	13	32735289	32735289	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr13:32735289G>A	uc001utx.3	+	16	2289	c.1793G>A	c.(1792-1794)aGa>aAa	p.R598K	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGGGGTGAGAGAAAGCCAAAA	0.358													A	32735289	G	A	32735289	3	1	154	1	0	0	0	0	1	0	0	0	6063	942	33	3	1859	3	FRY	13	32735289	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08		32735289	82434589	39	10620											
FARP1	10160	broad.mit.edu	37	13	99042246	99042246	+	Silent	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr13:99042246C>T	uc001vnh.3	+	9	1130	c.891C>T	c.(889-891)gcC>gcT	p.A297A	FARP1_uc001vnj.3_Silent_p.A297A	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	297	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCTGATGGCCAGTCGGGATT	0.443													T	99042246	C	T	99042246	2	4	154	1	0	0	0	0	0	0	0	1	5676	581	21	3		3	FARP1	13	99042246	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	66306957	99042246	16127632	40	10621											
CHD2	1106	broad.mit.edu	37	15	93567832	93567834	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr15:93567832_93567834delCTC	uc002bsp.3	+	38	5959_5961	c.5384_5386delCTC	c.(5383-5388)tctcct>tct	p.P1796del		NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1796					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCTCAGAAATCTCCTCACGATTC	0.468													-	93567834	CTC	-	93567832	7	5	154	1	0	1	0	1	0	0	0	0	3325	913	32	0	5538	0	CHD2	15	93567832	In_Frame_Del	DEL	CTC	TCGA-19-2619-01A-01D-1495-08		93567832	8963560	41	10622											
UBFD1	56061	broad.mit.edu	37	16	23570883	23570883	+	Silent	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr16:23570883C>T	uc002dlv.3	+	2	652	c.450C>T	c.(448-450)atC>atT	p.I150I	EARS2_uc002dls.4_5'Flank|EARS2_uc002dlt.4_5'Flank|EARS2_uc002dlu.3_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	Homo sapiens ubiquitin family domain containing 1 (UBFD1), mRNA.	150	Ubiquitin-like.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGGCCAAGATCATGGTGGTTG	0.502													T	23570883	C	T	23570883	2	4	154	1	0	0	0	0	0	0	0	1	16881	816	29	3		3	UBFD1	16	23570883	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08		23570883	66783870	42	10623											
RNMTL1	55178	broad.mit.edu	37	17	695048	695048	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:695048G>A	uc002frw.3	+	3	1108	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	334					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AAGATTGGCTGCCTCATGTTG	0.552													A	695048	G	A	695048	2	1	154	1	0	0	0	0	0	0	0	1	13507	1306	46	3		3	RNMTL1	17	695048	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		695048	80500162	43	10624											
ALDH3A1	218	broad.mit.edu	37	17	19641725	19641725	+	Missense_Mutation	SNP	C	C	T	rs113168621		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:19641725C>T	uc002gwk.3	-	7	1872	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	ALDH3A1_uc010cqu.3_Missense_Mutation_p.E420K|ALDH3A1_uc010vzd.2_Missense_Mutation_p.E420K|ALDH3A1_uc002gwj.3_Missense_Mutation_p.E420K|ALDH3A1_uc010cqv.3_Missense_Mutation_p.E419K|ALDH3A1_uc002gwl.1_Missense_Mutation_p.E347K			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	420					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GAGAAAGTCTCGAAGCTCTTC	0.612													T	19641725	C	T	19641725	3	4	154	1	0	0	0	0	1	0	0	0	497	893	31	2	111	2	ALDH3A1	17	19641725	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	18946677	19641725	61553485	44	10625											
GAS2L2	246176	broad.mit.edu	37	17	34072169	34072169	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:34072169G>A	uc002hjv.2	-	5	2375	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	783					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGTCTCTCCGGGGCCGAATC	0.612													A	34072169	G	A	34072169	3	1	154	1	0	0	0	0	1	0	0	0	6247	1115	39	2	299	2	GAS2L2	17	34072169	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	14430444	34072169	47123041	45	10626											
USH1G	124590	broad.mit.edu	37	17	72915620	72915620	+	Silent	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:72915620C>T	uc002jme.1	-	1	1494	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	USH1G_uc010wro.1_Silent_p.K334K	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	437	SAM.				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)					CCAAGATCTTCTTTCGGGGCC	0.682													T	72915620	C	T	72915620	2	4	154	1	0	0	0	0	0	0	0	1	17032	912	32	3		3	USH1G	17	72915620	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	38843451	72915620	8279590	46	10627											
INO80C	125476	broad.mit.edu	37	18	33060423	33060423	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:33060423G>A	uc010dmt.3	-	3	486	c.369C>T	c.(367-369)aaC>aaT	p.N123N	INO80C_uc002kyw.1_Silent_p.N87N|INO80C_uc002kyx.4_Silent_p.N32N|INO80C_uc002kyy.4_Silent_p.N87N	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	87					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						TTACCACAAAGTTGGGATCCT	0.483													A	33060423	G	A	33060423	2	1	154	1	0	0	0	0	0	0	0	1	7748	1020	36	3		3	INO80C	18	33060423	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		33060423	45016825	47	10628											
SERPINB3	6318	broad.mit.edu	37	18	61310407	61310407	+	Silent	SNP	A	A	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:61310407A>T	uc002ljf.3	-	2	296	c.210T>A	c.(208-210)gcT>gcA	p.A70A	SERPINB3_uc002lje.3_Silent_p.A70A|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	70					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GATATGTTGCAGCTTTTTCTG	0.403													T	61310407	A	T	61310407	2	4	154	1	0	0	0	0	0	0	0	1	14102	175	7	5		5	SERPINB3	18	61310407	Silent	SNP	A	TCGA-19-2619-01A-01D-1495-08	28249984	61310407	16766841	48	10629											
CNDP1	84735	broad.mit.edu	37	18	72223637	72223637	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:72223637C>T	uc002llq.3	+	1	300	c.89C>T	c.(88-90)cCg>cTg	p.P30L		NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	30					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.S29F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCACCCTCCCCGCCCCCGGCG	0.537													T	72223637	C	T	72223637	3	4	154	1	0	0	0	0	1	0	0	0	3593	652	23	2	95	2	CNDP1	18	72223637	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	10913230	72223637	5853611	49	10630											
SAFB2	9667	broad.mit.edu	37	19	5587916	5587916	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:5587916G>A	uc002mcd.3	-	18	2813	c.2601C>T	c.(2599-2601)gaC>gaT	p.D867D		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	867	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CCGCGCCTGCGTCCATGGCAC	0.672													A	5587916	G	A	5587916	2	1	154	1	0	0	0	0	0	0	0	1	13807	1136	40	1		1	SAFB2	19	5587916	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		5587916	53541067	50	10631											
FBN3	84467	broad.mit.edu	37	19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:8190851C>T	uc002mjf.3	-	20	2673	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	886	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGTGTTGACGCAACGCCCG	0.637													T	8190851	C	T	8190851	3	4	154	1	0	0	0	0	1	0	0	0	5704	536	19	1	5945	1	FBN3	19	8190851	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	2602935	8190851	50938132	51	10632											
MYH14	79784	broad.mit.edu	37	19	50792885	50792885	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:50792885C>T	uc010enu.1	+	34	4992	c.4945C>T	c.(4945-4947)Cgg>Tgg	p.R1649W	MYH14_uc002prq.1_Missense_Mutation_p.R1616W|MYH14_uc002prr.1_Missense_Mutation_p.R1608W|MYH14_uc010ycb.2_5'UTR|MYH14_uc002prs.1_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1608					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGAAGAGAGGCGGAGGCAGCT	0.612													T	50792885	C	T	50792885	3	4	154	1	0	0	0	0	1	0	0	0	10033	759	27	1	5079	1	MYH14	19	50792885	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	42602034	50792885	8336098	52	10633											
RASSF2	9770	broad.mit.edu	37	20	4776462	4776462	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr20:4776462C>T	uc002wld.3	-	4	341	c.287_splice	c.e4+1	p.G96_splice	RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Splice_Site_p.G96_splice	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	96					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CTCACTCACCCCTGAGCCCCC	0.597													T	4776462	C	T	4776462	3	4	154	1	0	0	0	0	1	0	0	0	13086	637	22	3	726	3	RASSF2	20	4776462	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		4776462	58249058	53	10634											
TXNRD2	10587	broad.mit.edu	37	22	19865620	19865620	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr22:19865620C>T	uc021wlj.1	-	15	1471	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.G479R|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_Missense_Mutation_p.G130R	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	480					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TACTTGATCCCCAGAGCAAAT	0.597													T	19865620	C	T	19865620	3	4	154	1	0	0	0	0	1	0	0	0	16805	623	22	3	144	3	TXNRD2	22	19865620	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		19865620	31438946	54	10635											
SMTN	6525	broad.mit.edu	37	22	31492853	31492853	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr22:31492853G>A	uc003ajl.2	+	13	2237	c.1996G>A	c.(1996-1998)Gtt>Att	p.V666I	SMTN_uc003ajk.2_Missense_Mutation_p.V666I|SMTN_uc003ajm.2_Missense_Mutation_p.V666I|SMTN_uc011ale.2_Missense_Mutation_p.V751I|SMTN_uc011alf.2_Missense_Mutation_p.V722I|SMTN_uc003ajn.2_Missense_Mutation_p.V689I|SMTN_uc011alg.2_Missense_Mutation_p.V122I|SMTN_uc003ajo.2_Intron|SMTN_uc011alh.1_Non-coding_Transcript|SMTN_uc010gwe.2_Intron	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	666					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TGTCAGCACTGTTACCAAGAC	0.682													A	31492853	G	A	31492853	3	1	154	1	0	0	0	0	1	0	0	0	14814	1377	48	3	2046	3	SMTN	22	31492853	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	11627233	31492853	19811713	55	10636											
NHS	4810	broad.mit.edu	37	X	17745612	17745612	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:17745612C>T	uc011mix.2	+	6	3724	c.3386C>T	c.(3385-3387)cCg>cTg	p.P1129L	NHS_uc004cxx.3_Missense_Mutation_p.P1108L|NHS_uc004cxy.3_Missense_Mutation_p.P952L|NHS_uc004cxz.3_Missense_Mutation_p.P931L|NHS_uc004cya.3_Missense_Mutation_p.P831L	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1108						nucleus		p.P1108L(1)|p.P952L(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AATCCTCCACCGTCCCTTGCA	0.408													T	17745612	C	T	17745612	3	4	154	1	0	0	0	0	1	0	0	0	10411	652	23	2	3450	2	NHS	23	17745612	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		17745612	137524948	56	10637											
TIMM17B	10245	broad.mit.edu	37	X	48751096	48751096	+	Silent	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:48751096G>A	uc004dla.2	-	7	734	c.585C>T	c.(583-585)ccC>ccT	p.P195P	TIMM17B_uc004dlc.2_Silent_p.P145P	NM_001167947	NP_001161419	O60830	TI17B_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 17 homolog B (yeast) (TIMM17B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	145					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CCAGGAATGGGGGCGCTGGAG	0.617													A	48751096	G	A	48751096	2	1	154	1	0	0	0	0	0	0	0	1	15906	1219	43	3		3	TIMM17B	23	48751096	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	31005484	48751096	106519464	57	10638											
PCDH11X	27328	broad.mit.edu	37	X	91132985	91132985	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:91132985C>A	uc004efk.2	+	1	2591	c.1746C>A	c.(1744-1746)aaC>aaA	p.N582K	PCDH11X_uc004efl.2_Missense_Mutation_p.N582K|PCDH11X_uc010nmv.2_Missense_Mutation_p.N582K|PCDH11X_uc004efm.2_Missense_Mutation_p.N582K|PCDH11X_uc004efn.2_Missense_Mutation_p.N582K|PCDH11X_uc004efo.2_Missense_Mutation_p.N582K|PCDH11X_uc004efh.2_Missense_Mutation_p.N582K|PCDH11X_uc004efj.1_Missense_Mutation_p.N582K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	582	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						TCCCAGAAAACCTTCCAAGGC	0.393													A	91132985	C	A	91132985	3	1	154	1	0	0	0	0	1	0	0	0	11508	506	18	5	1752	5	PCDH11X	23	91132985	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	42381889	91132985	64137575	58	10639											
DOCK11	139818	broad.mit.edu	37	X	117722099	117722099	+	Splice_Site	SNP	G	G	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:117722099G>T	uc004eqp.2	+	17	1859	c.1796_splice	c.e17-1	p.N599_splice	DOCK11_uc004eqq.2_Splice_Site_p.N365_splice	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	599					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCCTGCTATAGATTGTATTAC	0.318													T	117722099	G	T	117722099	5	4	154	1	0	0	0	0	0	0	1	0	4686	956	33	5	1861	5	DOCK11	23	117722099	Splice_Site	SNP	G	TCGA-19-2619-01A-01D-1495-08	26589114	117722099	37548461	59	10640											
RNF113A	7737	broad.mit.edu	37	X	119004909	119004909	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:119004909C>T	uc004esb.3	-	0	883	c.668G>A	c.(667-669)cGt>cAt	p.R223H	NDUFA1_uc004esc.4_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	Homo sapiens ring finger protein 113A (RNF113A), mRNA.	223							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GTAATCTGAACGGTCATGGAG	0.522													T	119004909	C	T	119004909	3	4	154	1	0	0	0	0	1	0	0	0	13427	536	19	1	367	1	RNF113A	23	119004909	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	1282810	119004909	36265651	60	10641											
ARHGAP36	158763	broad.mit.edu	37	X	130220576	130220576	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:130220576C>T	uc004evz.3	+	10	1768	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	ARHGAP36_uc004ewa.3_Missense_Mutation_p.P463S|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P444S|ARHGAP36_uc004ewc.3_Missense_Mutation_p.P339S	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	475					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			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						ACTTTCTGATCCAGTGGAAAC	0.478													T	130220576	C	T	130220576	3	4	154	1	0	0	0	0	1	0	0	0	883	855	30	3	1461	3	ARHGAP36	23	130220576	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	11215667	130220576	25049984	61	10642											
CTAG2	30848	broad.mit.edu	37	X	153881755	153881755	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:153881755G>A	uc004fmi.2	-	0	99	c.35C>T	c.(34-36)aCg>aTg	p.T12M	CTAG2_uc004fmh.2_Missense_Mutation_p.T12M	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	12	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCATCGCCCGTCGAACCCCC	0.706													A	153881755	G	A	153881755	3	1	154	1	0	0	0	0	1	0	0	0	3991	1145	40	1	744	1	CTAG2	23	153881755	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	23661179	153881755	1388805	62	10643											
PTCHD2	57540	broad.mit.edu	37	1	11562051	11562051	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:11562051G>A	uc001ash.4	+	1	1140	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S	PTCHD2_uc001asi.1_Silent_p.S334S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	334					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTACTGCTCGCCCCCCAGCT	0.627													A	11562051	G	A	11562051	2	1	155	1	0	0	0	0	0	0	0	1	12733	1074	38	1		1	PTCHD2	1	11562051	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08		11562051	237688570	1	10644											
LRRC8B	23507	broad.mit.edu	37	1	90048973	90048973	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:90048973A>G	uc001dni.3	+	6	1271	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	LRRC8B_uc001dnh.3_Missense_Mutation_p.Y255C|LRRC8B_uc001dnj.3_Missense_Mutation_p.Y255C	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	255						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GACATCATTTATAGAGTATAT	0.383													G	90048973	A	G	90048973	3	3	155	1	0	0	0	0	1	0	0	0	9022	449	16	4	766	4	LRRC8B	1	90048973	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	78486922	90048973	159201648	2	10645											
GPR61	83873	broad.mit.edu	37	1	110086040	110086040	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:110086040G>A	uc021orh.1	+	0	396	c.396G>A	c.(394-396)tcG>tcA	p.S132S	GPR61_uc001dxy.2_Silent_p.S132S	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	132						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCATCCTCTCGGTGTCAGCCA	0.607													A	110086040	G	A	110086040	2	1	155	1	0	0	0	0	0	0	0	1	6702	1103	39	2		2	GPR61	1	110086040	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	20037067	110086040	139164581	3	10646											
TTF2	8458	broad.mit.edu	37	1	117618058	117618058	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:117618058G>A	uc001egy.3	+	4	872	c.852G>A	c.(850-852)gaG>gaA	p.E284E	TTF2_uc001egx.1_Silent_p.E284E	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	284					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAACAAGGAGTACACGAACT	0.522													A	117618058	G	A	117618058	2	1	155	1	0	0	0	0	0	0	0	1	16716	1020	36	3		3	TTF2	1	117618058	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	7532018	117618058	131632563	4	10647											
FLG	2312	broad.mit.edu	37	1	152283519	152283519	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:152283519G>A	uc001ezu.1	-	2	3879	c.3843C>T	c.(3841-3843)gaC>gaT	p.D1281D	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1281	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TCTCGGAGTCGTCTGAGTGTC	0.552									Ichthyosis				A	152283519	G	A	152283519	2	1	155	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152283519	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	34665461	152283519	96967102	5	10648											
HMCN1	83872	broad.mit.edu	37	1	186050515	186050515	+	Nonsense_Mutation	SNP	C	C	T	rs142475663		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:186050515C>T	uc001grq.1	+	55	9005	c.8776C>T	c.(8776-8778)Cga>Tga	p.R2926*	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2926	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R2926Q(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						ATCTAATGGACGAATTCTGCA	0.338													T	186050515	C	T	186050515	4	4	155	1	0	0	0	0	0	1	0	0	7220	528	19	1	8998	1	HMCN1	1	186050515	Nonsense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	33766996	186050515	63200106	6	10649											
HMCN1	83872	broad.mit.edu	37	1	186083185	186083185	+	Missense_Mutation	SNP	G	G	A	rs138190200	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:186083185G>A	uc001grq.1	+	72	11435	c.11206G>A	c.(11206-11208)Gct>Act	p.A3736T	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3736	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.A3736T(2)		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						GGAATGCATCGCTGAAGGTGT	0.408													A	186083185	G	A	186083185	3	1	155	1	0	0	0	0	1	0	0	0	7220	1087	38	1	11496	1	HMCN1	1	186083185	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	32670	186083185	63167436	7	10650											
NUAK2	81788	broad.mit.edu	37	1	205280831	205280831	+	Splice_Site	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:205280831A>G	uc001hce.3	-	2	479	c.352_splice	c.e2+1	p.V118_splice	NUAK2_uc009xbj.1_5'Flank	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	118	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCCCACTGTACCTTCATGGA	0.438													G	205280831	A	G	205280831	5	3	155	1	0	0	0	0	0	0	1	0	10713	405	14	4	1556	4	NUAK2	1	205280831	Splice_Site	SNP	A	TCGA-19-2620-01A-01D-1495-08	19197646	205280831	43969790	8	10651											
TRAF3IP3	80342	broad.mit.edu	37	1	209954760	209954760	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:209954760A>T	uc001hho.3	+	15	1940	c.1520A>T	c.(1519-1521)cAc>cTc	p.H507L	TRAF3IP3_uc001hhn.3_Missense_Mutation_p.H487L|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.H507L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	507						integral to membrane	protein binding	p.R506*(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGCTGCAGCACTGTCGAGAA	0.512													T	209954760	A	T	209954760	3	4	155	1	0	0	0	0	1	0	0	0	16439	159	6	5	1574	5	TRAF3IP3	1	209954760	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	4673929	209954760	39295861	9	10652											
LPIN1	23175	broad.mit.edu	37	2	11943091	11943091	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:11943091G>A	uc010yjm.2	+	15	2145	c.2092G>A	c.(2092-2094)Gca>Aca	p.A698T	LPIN1_uc010yjn.2_Missense_Mutation_p.A613T|LPIN1_uc002rbt.3_Missense_Mutation_p.A613T|LPIN1_uc010yjo.2_Missense_Mutation_p.A114T	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	613	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCCATCAAACGCAGGCCACCT	0.532													A	11943091	G	A	11943091	3	1	155	1	0	0	0	0	1	0	0	0	8918	1087	38	1	1887	1	LPIN1	2	11943091	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		11943091	231256282	10	10653											
IL1RL1	9173	broad.mit.edu	37	2	102959595	102959595	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:102959595T>C	uc002tbu.1	+	6	1053	c.782T>C	c.(781-783)tTt>tCt	p.F261S	IL1RL1_uc010ywa.2_Missense_Mutation_p.F144S|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.F261S	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	261	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATTACAGACTTTGGTGAACCA	0.423													C	102959595	T	C	102959595	3	2	155	1	0	0	0	0	1	0	0	0	7663	1841	64	4	804	4	IL1RL1	2	102959595	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	91016504	102959595	140239778	11	10654											
LRP2	4036	broad.mit.edu	37	2	170066149	170066149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:170066149G>A	uc002ues.3	-	37	6496	c.6283C>T	c.(6283-6285)Cga>Tga	p.R2095*		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2095					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2095Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGCGTTTCGTCCTGGAAGT	0.418													A	170066149	G	A	170066149	4	1	155	1	0	0	0	0	0	1	0	0	8956	1153	40	1	7852	1	LRP2	2	170066149	Nonsense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	67106554	170066149	73133224	12	10655											
DNAH7	56171	broad.mit.edu	37	2	196765215	196765215	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:196765215G>C	uc002utj.4	-	27	4440	c.4339C>G	c.(4339-4341)Ctc>Gtc	p.L1447V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1447	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L1447L(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						GTCCGAAAGAGAGCCTATGGG	0.418													C	196765215	G	C	196765215	3	2	155	1	0	0	0	0	1	0	0	0	4606	942	33	5	7887	5	DNAH7	2	196765215	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	26699066	196765215	46434158	13	10656											
AOX1	316	broad.mit.edu	37	2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:201478598C>T	uc002uvx.3	+	14	1621	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	507					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.A507V(2)|p.A507A(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)	TTGGGCTCGGCGCCAGGTGGG	0.473													T	201478598	C	T	201478598	3	4	155	1	0	0	0	0	1	0	0	0	729	768	27	1	1578	1	AOX1	2	201478598	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	4713383	201478598	41720775	14	10657											
FAM126B	285172	broad.mit.edu	37	2	201881771	201881771	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:201881771G>A	uc002uws.4	-	4	464	c.276C>T	c.(274-276)agC>agT	p.S92S	FAM126B_uc002uwu.3_Silent_p.S10S|FAM126B_uc002uwv.3_Silent_p.S92S|FAM126B_uc002uww.1_Silent_p.S92S	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	92						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GTCTGTCTCGGCTAACTGTAA	0.388													A	201881771	G	A	201881771	2	1	155	1	0	0	0	0	0	0	0	1	5430	1194	42	3		3	FAM126B	2	201881771	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	403173	201881771	41317602	15	10658											
TRPM8	79054	broad.mit.edu	37	2	234835206	234835206	+	Silent	SNP	C	C	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:234835206C>A	uc002vvh.3	+	1	64	c.24C>A	c.(22-24)ctC>ctA	p.L8L	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	8						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAGCCAGGCTCAGCATGAGGA	0.522													A	234835206	C	A	234835206	2	1	155	1	0	0	0	0	0	0	0	1	16589	813	29	5		5	TRPM8	2	234835206	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	32953435	234835206	8364167	16	10659											
OR5H2	79310	broad.mit.edu	37	3	98001924	98001924	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:98001924T>A	uc003dsj.1	+	0	193	c.193T>A	c.(193-195)Tac>Aac	p.Y65N		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CATCCCCATGTACTTTTTTCT	0.408													A	98001924	T	A	98001924	3	1	155	1	0	0	0	0	1	0	0	0	11162	1638	57	5	195	5	OR5H2	3	98001924	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08		98001924	100020506	17	10660											
OR5H2	79310	broad.mit.edu	37	3	98002428	98002428	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:98002428A>C	uc003dsj.1	+	0	697	c.697A>C	c.(697-699)Aag>Cag	p.K233Q		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATCCTAAAAAAGAAGTCTGT	0.363													C	98002428	A	C	98002428	3	2	155	1	0	0	0	0	1	0	0	0	11162	15	1	5	699	5	OR5H2	3	98002428	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	504	98002428	100020002	18	10661											
SLCO2A1	6578	broad.mit.edu	37	3	133692615	133692615	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:133692615G>A	uc003eqa.4	-	2	563	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	SLCO2A1_uc011blv.2_Missense_Mutation_p.R97C|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	97					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.R97H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGACGTGGACGGTGCACCCGG	0.572													A	133692615	G	A	133692615	3	1	155	1	0	0	0	0	1	0	0	0	14726	1116	39	2	1690	2	SLCO2A1	3	133692615	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	35690187	133692615	64329815	19	10662											
BCHE	590	broad.mit.edu	37	3	165548715	165548715	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:165548715G>T	uc003fem.4	-	1	267	c.107C>A	c.(106-108)aCa>aAa	p.T36K	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	36					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCCATTCTTTGTTGCAATTAT	0.408													T	165548715	G	T	165548715	3	4	155	1	0	0	0	0	1	0	0	0	1358	1377	48	5	1713	5	BCHE	3	165548715	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	31856100	165548715	32473715	20	10663											
GHSR	2693	broad.mit.edu	37	3	172165593	172165593	+	Missense_Mutation	SNP	G	G	A	rs121917883		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:172165593G>A	uc003fib.2	-	0	654	c.611C>T	c.(610-612)gCg>gTg	p.A204V	GHSR_uc011bpv.2_Missense_Mutation_p.A204V	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	204			A -> E (in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin).		actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGAGCGCACCGCAAACTCGGT	0.622													A	172165593	G	A	172165593	3	1	155	1	0	0	0	0	1	0	0	0	6375	1087	38	1	571	1	GHSR	3	172165593	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	6616878	172165593	25856837	21	10664											
CCDC158	339965	broad.mit.edu	37	4	77288530	77288530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:77288530G>A	uc003hkb.4	-	10	1900	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	583								p.R583Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCAGCAGTTCGTCCATGCTGG	0.453													A	77288530	G	A	77288530	4	1	155	1	0	0	0	0	0	1	0	0	2790	1153	40	1	1650	1	CCDC158	4	77288530	Nonsense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		77288530	113865746	22	10665											
SEC31A	22872	broad.mit.edu	37	4	83799939	83799939	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:83799939C>T	uc003hnh.3	-	3	526	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	SEC31A_uc011ccl.2_Missense_Mutation_p.A116T|SEC31A_uc003hnl.3_Missense_Mutation_p.A116T|SEC31A_uc003hng.3_Missense_Mutation_p.A116T|SEC31A_uc011ccm.2_Missense_Mutation_p.A111T|SEC31A_uc003hni.3_Missense_Mutation_p.A116T|SEC31A_uc003hnk.3_Missense_Mutation_p.A116T|SEC31A_uc003hnf.3_Missense_Mutation_p.A116T|SEC31A_uc011ccn.2_Missense_Mutation_p.A116T|SEC31A_uc003hnm.3_Missense_Mutation_p.A116T|SEC31A_uc003hnn.2_Missense_Mutation_p.A116T|SEC31A_uc003hno.3_Missense_Mutation_p.A116T	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	116					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCATTCTGGGCAATCACAACT	0.398													T	83799939	C	T	83799939	3	4	155	1	0	0	0	0	1	0	0	0	13998	710	25	3	3412	3	SEC31A	4	83799939	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	6511409	83799939	107354337	23	10666											
PCDH18	54510	broad.mit.edu	37	4	138451923	138451923	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:138451923C>T	uc003ihe.4	-	0	1707	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	PCDH18_uc003ihf.4_Silent_p.R433R|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.R220R|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	440	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)					TGGGTGTCCCCCTGTCCTCAG	0.373													T	138451923	C	T	138451923	2	4	155	1	0	0	0	0	0	0	0	1	11513	622	22	3		3	PCDH18	4	138451923	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	54651984	138451923	52702353	24	10667											
MYO10	4651	broad.mit.edu	37	5	16668507	16668507	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:16668507C>T	uc003jft.4	-	39	6422	c.5954G>A	c.(5953-5955)cGt>cAt	p.R1985H	MYO10_uc011cnb.2_Missense_Mutation_p.R614H|MYO10_uc011cnc.2_Missense_Mutation_p.R864H|MYO10_uc011cnd.2_Missense_Mutation_p.R1342H|MYO10_uc011cne.2_Missense_Mutation_p.R1342H|MYO10_uc010itx.3_Missense_Mutation_p.R1607H	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1985	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCCTCTCCACGCTTGTAGAC	0.547													T	16668507	C	T	16668507	3	4	155	1	0	0	0	0	1	0	0	0	10062	536	19	1	230	1	MYO10	5	16668507	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		16668507	164246753	25	10668											
CDH9	1007	broad.mit.edu	37	5	26885965	26885965	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:26885965G>A	uc003jgs.1	-	10	1809	c.1640C>T	c.(1639-1641)gCa>gTa	p.A547V	CDH9_uc011cnv.1_Missense_Mutation_p.A140V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	547	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATGATTCCTGCTGTATTATC	0.318													A	26885965	G	A	26885965	3	1	155	1	0	0	0	0	1	0	0	0	3117	1319	46	3	737	3	CDH9	5	26885965	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	10217458	26885965	154029295	26	10669											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139889605	139889605	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:139889605G>A	uc003lfs.2	+	22	4096	c.3942_splice	c.e22-1	p.R1314_splice	ANKHD1-EIF4EBP3_uc003lfq.2_Splice_Site_p.R1333_splice|ANKHD1-EIF4EBP3_uc003lfr.3_Splice_Site_p.R1314_splice|ANKHD1-EIF4EBP3_uc003lft.1_Splice_Site_p.R525_splice|ANKHD1-EIF4EBP3_uc003lfu.1_Splice_Site_p.R794_splice|ANKHD1-EIF4EBP3_uc003lfv.1_Splice_Site_p.R391_splice|ANKHD1-EIF4EBP3_uc011czh.1_Splice_Site_p.R53_splice|ANKHD1-EIF4EBP3_uc003lfw.3_Splice_Site	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1314						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTTACAGGGGAGCCCACAT	0.393													A	139889605	G	A	139889605	3	1	155	1	0	0	0	0	1	0	0	0	629	1246	43	3	4029	3	ANKHD1-EIF4EBP3	5	139889605	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	113003640	139889605	41025655	27	10670											
PCDHAC2	56144	broad.mit.edu	37	5	140188686	140188686	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:140188686C>T	uc003lhi.2	+	0	2015	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	649	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677													T	140188686	C	T	140188686	2	4	155	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHAC2	5	140188686	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	299081	140188686	40726574	28	10671											
PCDHGC5	56102	broad.mit.edu	37	5	140751537	140751537	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:140751537C>T	uc003ljw.2	+	0	1576	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	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.R526C|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	528	Cadherin 5.				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)			CGAGCAGCTGCGTGCCTTCGA	0.692													T	140751537	C	T	140751537	3	4	155	1	0	0	0	0	1	0	0	0	11571	768	27	1		1	PCDHGC5	5	140751537	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	562851	140751537	40163723	29	10672											
CAMK2A	815	broad.mit.edu	37	5	149602771	149602771	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:149602771C>T	uc003lru.2	-	16	1429	c.1214G>A	c.(1213-1215)cGg>cAg	p.R405Q	CAMK2A_uc003lrt.2_Missense_Mutation_p.R416Q	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	405					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCTGTTCCGGGACCACAC	0.612													T	149602771	C	T	149602771	3	4	155	1	0	0	0	0	1	0	0	0	2599	652	23	2	230	2	CAMK2A	5	149602771	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	8851234	149602771	31312489	30	10673											
LARP1	23367	broad.mit.edu	37	5	154188110	154188110	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:154188110G>A	uc003lvo.3	+	15	2583	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K	LARP1_uc021ygh.1_Silent_p.K725K	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	930							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAACAAAAAGATGTATGAGG	0.532													A	154188110	G	A	154188110	2	1	155	1	0	0	0	0	0	0	0	1	8628	933	33	3		3	LARP1	5	154188110	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	4585339	154188110	26727150	31	10674	14	2									
LARP1	23367	broad.mit.edu	37	5	154188112	154188112	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:154188112T>A	uc003lvo.3	+	15	2585	c.2561T>A	c.(2560-2562)aTg>aAg	p.M854K	LARP1_uc021ygh.1_Missense_Mutation_p.M726K	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	931							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACAAAAAGATGTATGAGGAG	0.532													A	154188112	T	A	154188112	3	1	155	1	0	0	0	0	1	0	0	0	8628	1464	51	5	2623	5	LARP1	5	154188112	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	2	154188112	26727148	32	10675	14	2									
GABRA6	2559	broad.mit.edu	37	5	161116737	161116737	+	Missense_Mutation	SNP	G	G	T	rs145469537		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:161116737G>T	uc003lyu.2	+	5	963	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	GABRA6_uc003lyv.2_5'UTR	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	209					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.D209N(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCCAGTATGATCTGATTGG	0.378										TCGA Ovarian(5;0.080)			T	161116737	G	T	161116737	3	4	155	1	0	0	0	0	1	0	0	0	6165	1290	45	5	647	5	GABRA6	5	161116737	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	6928625	161116737	19798523	33	10676											
ENPP5	59084	broad.mit.edu	37	6	46135819	46135819	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:46135819C>T	uc003oxz.1	-	1	389	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	ENPP5_uc010jzc.1_Missense_Mutation_p.V61M|ENPP5_uc011dvz.1_Intron|ENPP5_uc003oya.1_Missense_Mutation_p.V61M	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	61						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ACTTGCTTCACGTGAACACCA	0.348													T	46135819	C	T	46135819	3	4	155	1	0	0	0	0	1	0	0	0	5133	536	19	1	1264	1	ENPP5	6	46135819	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		46135819	124979248	34	10677											
LGSN	51557	broad.mit.edu	37	6	63991054	63991054	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:63991054T>A	uc003peh.3	-	3	436	c.402A>T	c.(400-402)gaA>gaT	p.E134D	LGSN_uc003pei.3_Missense_Mutation_p.E134D	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	134					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGTTATTCATTTCATTGTCCT	0.393													A	63991054	T	A	63991054	3	1	155	1	0	0	0	0	1	0	0	0	8759	1838	64	5	1131	5	LGSN	6	63991054	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	17855235	63991054	107124013	35	10678											
EPHA7	2045	broad.mit.edu	37	6	93956625	93956625	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:93956625C>G	uc003poe.3	-	14	2852	c.2611G>C	c.(2611-2613)Gat>Cat	p.D871H	EPHA7_uc003pof.3_Missense_Mutation_p.D866H|EPHA7_uc011eac.2_Missense_Mutation_p.D867H	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	871	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			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)		TGCCAACAATCCAACATTAGC	0.418													G	93956625	C	G	93956625	3	3	155	1	0	0	0	0	1	0	0	0	5172	855	30	5	397	5	EPHA7	6	93956625	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	29965571	93956625	77158442	36	10679											
MAN1A1	4121	broad.mit.edu	37	6	119669897	119669897	+	Missense_Mutation	SNP	C	C	G	rs139302645		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:119669897C>G	uc003pym.1	-	1	776	c.334G>C	c.(334-336)Gac>Cac	p.D112H	MAN1A1_uc010kei.2_Missense_Mutation_p.D112H	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	112					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCCTCCGGGTCCCCGGGTGCC	0.761													G	119669897	C	G	119669897	3	3	155	1	0	0	0	0	1	0	0	0	9210	855	30	5	1675	5	MAN1A1	6	119669897	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	25713272	119669897	51445170	37	10680											
MED23	9439	broad.mit.edu	37	6	131929144	131929144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:131929144delC	uc003qcs.1	-	11	1319	c.1145delG	c.(1144-1146)ggafs	p.G382fs	MED23_uc003qcq.3_Frame_Shift_Del_p.G388fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Del_p.G388fs|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	382					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGAATACTTCCAGAAATGAA	0.378													-	131929144	C	-	131929144	7	5	155	1	0	1	0	1	0	0	0	0	9441	855	30	0	3040	0	MED23	6	131929144	Frame_Shift_Del	DEL	C	TCGA-19-2620-01A-01D-1495-08	12259247	131929144	39185923	38	10681											
ECT2L	345930	broad.mit.edu	37	6	139183819	139183819	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:139183819G>A	uc003qif.2	+	10	1579	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	ECT2L_uc021zfx.1_Silent_p.T418T|ECT2L_uc011edq.1_Silent_p.T349T	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	418					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTCTTTACGGCCCCCACTG	0.463			"N, Splice, Mis"		ETP ALL								A	139183819	G	A	139183819	2	1	155	1	0	0	0	0	0	0	0	1	4902	1103	39	2		2	ECT2L	6	139183819	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	7254675	139183819	31931248	39	10682											
MAP3K4	4216	broad.mit.edu	37	6	161470034	161470034	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:161470034A>G	uc003qtn.3	+	2	872	c.730A>G	c.(730-732)Agg>Ggg	p.R244G	MAP3K4_uc010kkc.1_Missense_Mutation_p.R244G|MAP3K4_uc003qto.3_Missense_Mutation_p.R244G|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	244					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAAAAAGACAGGGAGCAAAG	0.433													G	161470034	A	G	161470034	3	3	155	1	0	0	0	0	1	0	0	0	9252	179	7	4	740	4	MAP3K4	6	161470034	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	22286215	161470034	9645033	40	10683											
NPC1L1	29881	broad.mit.edu	37	7	44579249	44579249	+	Silent	SNP	G	G	A	rs148698796		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:44579249G>A	uc003tlb.3	-	1	803	c.747C>T	c.(745-747)gaC>gaT	p.D249D	NPC1L1_uc011kbw.2_Silent_p.D249D|NPC1L1_uc003tlc.3_Silent_p.D249D|NPC1L1_uc003tld.3_Silent_p.D249D	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	249					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCGCCACGTCGTCACCTTGGG	0.632													A	44579249	G	A	44579249	2	1	155	1	0	0	0	0	0	0	0	1	10571	1136	40	1		1	NPC1L1	7	44579249	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08		44579249	114559414	41	10684											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	155	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	10653794	55233043	103905620	42	10685											
CACNA2D1	781	broad.mit.edu	37	7	81598223	81598223	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:81598223C>T	uc003uhr.1	-	28	2631	c.2375G>A	c.(2374-2376)gGg>gAg	p.G792E	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	804						voltage-gated calcium channel complex	metal ion binding			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)	AAGAAGTTTCCCTTGAATATA	0.284													T	81598223	C	T	81598223	3	4	155	1	0	0	0	0	1	0	0	0	2548	623	22	3	944	3	CACNA2D1	7	81598223	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	26365180	81598223	77540440	43	10686											
CHMP4C	92421	broad.mit.edu	37	8	82644913	82644913	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:82644913G>A	uc003ycl.3	+	0	226	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	18	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TAAGAGCCGAGCCGCTCCCAG	0.587													A	82644913	G	A	82644913	3	1	155	1	0	0	0	0	1	0	0	0	3358	971	34	3	54	3	CHMP4C	8	82644913	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		82644913	63719109	44	10687											
WDYHV1	55093	broad.mit.edu	37	8	124453566	124453566	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:124453566G>A	uc003yqn.1	+	5	654	c.529G>A	c.(529-531)Gat>Aat	p.D177N	WDYHV1_uc011lij.1_Missense_Mutation_p.D117N	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	177					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.N176S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GAACCTGAACGATTTCATCAG	0.373													A	124453566	G	A	124453566	3	1	155	1	0	0	0	0	1	0	0	0	17340	1058	37	2	551	2	WDYHV1	8	124453566	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	41808653	124453566	21910456	45	10688											
SLC45A4	57210	broad.mit.edu	37	8	142228261	142228261	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:142228261G>A	uc003ywd.1	-	3	1633	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	SLC45A4_uc003ywc.1_Missense_Mutation_p.T442M|SLC45A4_uc010meq.1_Missense_Mutation_p.T440M	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	493					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGCGCACCGTGGTCTCGCC	0.682													A	142228261	G	A	142228261	3	1	155	1	0	0	0	0	1	0	0	0	14643	1145	40	1	1091	1	SLC45A4	8	142228261	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	17774695	142228261	4135761	46	10689											
RHPN1	114822	broad.mit.edu	37	8	144462083	144462083	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:144462083G>A	uc003yyb.3	+	8	1163	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	344	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GACTGCCCTGGTGCATGTCAA	0.657													A	144462083	G	A	144462083	3	1	155	1	0	0	0	0	1	0	0	0	13350	1261	44	3	1064	3	RHPN1	8	144462083	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	2233822	144462083	1901939	47	10690											
TAF1L	138474	broad.mit.edu	37	9	32633610	32633610	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:32633610T>A	uc003zrg.1	-	0	2058	c.1968A>T	c.(1966-1968)caA>caT	p.Q656H	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	656					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			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)		TTAGCAAAGGTTGGACTGAAT	0.502													A	32633610	T	A	32633610	3	1	155	1	0	0	0	0	1	0	0	0	15520	1722	60	5	3516	5	TAF1L	9	32633610	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08		32633610	108579821	48	10691											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899196	112899196	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:112899196C>T	uc004bei.2	+	8	2260	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R268C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R316C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R316C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R276C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R227C|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R227C	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	227							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGAGCTCATCCGCAGCCAGGC	0.512													T	112899196	C	T	112899196	3	4	155	1	0	0	0	0	1	0	0	0	11410	652	23	2	1402	2	PALM2-AKAP2	9	112899196	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	80265586	112899196	28314235	49	10692											
PMPCA	23203	broad.mit.edu	37	9	139306464	139306464	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:139306464G>A	uc004chl.3	+	1	92	c.87G>A	c.(85-87)gcG>gcA	p.A29A	SDCCAG3_uc004chj.3_5'Flank|SDCCAG3_uc004chk.3_5'Flank|SDCCAG3_uc004chi.3_5'Flank|PMPCA_uc011mdy.1_Silent_p.A29A|PMPCA_uc010nbk.2_Non-coding_Transcript|PMPCA_uc011mdz.2_5'UTR|PMPCA_uc010nbl.3_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	29					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GACCTCCTGCGTACAGACGGT	0.493													A	139306464	G	A	139306464	2	1	155	1	0	0	0	0	0	0	0	1	12140	1132	40	1		1	PMPCA	9	139306464	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	26407268	139306464	1906967	50	10693											
AS3MT	57412	broad.mit.edu	37	10	104638210	104638210	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr10:104638210C>T	uc001kwj.3	+	11	1090	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	AS3MT_uc009xxh.3_Missense_Mutation_p.R229C|AS3MT_uc001kwk.3_Missense_Mutation_p.R229C	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA.	229					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CTGCCCTCCACGTTTGGTCAC	0.408													T	104638210	C	T	104638210	3	4	155	1	0	0	0	0	1	0	0	0	1005	536	19	1	715	1	AS3MT	10	104638210	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		104638210	30896537	51	10694											
OR52I1	390037	broad.mit.edu	37	11	4616048	4616048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:4616048delG	uc010qyi.2	+	0	780	c.780delG	c.(778-780)atgfs	p.M260fs		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACCTGGGATGGCATCCATCT	0.507													-	4616048	G	-	4616048	7	5	155	1	0	1	0	1	0	0	0	0	11120	1348	47	0	782	0	OR52I1	11	4616048	Frame_Shift_Del	DEL	G	TCGA-19-2620-01A-01D-1495-08		4616048	130390468	52	10695											
OR5D18	219438	broad.mit.edu	37	11	55587445	55587445	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:55587445T>A	uc010rin.2	+	0	340	c.340T>A	c.(340-342)Ttt>Att	p.F114I		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S113F(1)|p.F114F(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)				CACTGAATCCTTTTTATTAGC	0.433													A	55587445	T	A	55587445	3	1	155	1	0	0	0	0	1	0	0	0	11157	1609	56	5	342	5	OR5D18	11	55587445	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	50971397	55587445	79419071	53	10696											
ACRV1	56	broad.mit.edu	37	11	125542539	125542539	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:125542539C>T	uc001qcs.3	-	3	865	c.747G>A	c.(745-747)acG>acA	p.T249T	CHEK1_uc001qcf.4_Intron|ACRV1_uc001qcl.3_Silent_p.T179T|ACRV1_uc001qcn.3_Silent_p.T194T|ACRV1_uc001qcr.3_Silent_p.T230T	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	249					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TTTGCATCCTCGTTCCATGGG	0.448													T	125542539	C	T	125542539	2	4	155	1	0	0	0	0	0	0	0	1	172	871	31	2		2	ACRV1	11	125542539	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	69955094	125542539	9463977	54	10697											
ADAMTS20	80070	broad.mit.edu	37	12	43833726	43833726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:43833726G>A	uc010skx.2	-	16	2437	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*	ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	813	Spacer.					proteinaceous extracellular matrix	zinc ion binding	p.R813*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTCTTGTCGATTAGTACTA	0.299													A	43833726	G	A	43833726	4	1	155	1	0	0	0	0	0	1	0	0	266	1066	37	2	3386	2	ADAMTS20	12	43833726	Nonsense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		43833726	90018169	55	10698											
H1FNT	341567	broad.mit.edu	37	12	48723149	48723149	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:48723149G>A	uc001rrm.3	+	0	387	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	25					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						TGGCTGAGGCGCCTGGGCCCA	0.657													A	48723149	G	A	48723149	2	1	155	1	0	0	0	0	0	0	0	1	6921	1074	38	1		1	H1FNT	12	48723149	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	4889423	48723149	85128746	56	10699											
B4GALNT1	2583	broad.mit.edu	37	12	58022670	58022670	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:58022670G>A	uc001spg.1	-	7	1260	c.828C>T	c.(826-828)agC>agT	p.S276S	B4GALNT1_uc010sru.2_Silent_p.S221S|B4GALNT1_uc010srv.2_Silent_p.S243S	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	276					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACTAGAGCGCTGATGTTGT	0.577													A	58022670	G	A	58022670	2	1	155	1	0	0	0	0	0	0	0	1	1266	1078	38	1		1	B4GALNT1	12	58022670	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	9299521	58022670	75829225	57	10700											
PTPN11	5781	broad.mit.edu	37	12	112926910	112926910	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:112926910G>C	uc001ttx.3	+	12	1910	c.1530G>C	c.(1528-1530)caG>caC	p.Q510H		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	514	Tyrosine-protein phosphatase.		Q -> P (in LEOPARD1).|Q -> R (in NS1).		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.Q510K(2)|p.Q510H(1)|p.Q510L(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						CAGAAGCACAGTACCGATTTA	0.493			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				C	112926910	G	C	112926910	3	2	155	1	0	0	0	0	1	0	0	0	12780	1020	36	5	1580	5	PTPN11	12	112926910	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	54904240	112926910	20924985	58	10701											
C12orf52	84934	broad.mit.edu	37	12	113629392	113629392	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:113629392C>T	uc001tur.1	+	3	1048	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L		NM_032848	NP_116237	Q96K30	RITA_HUMAN	Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA.	194	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTCACGCCCCCTGAAGCGGGG	0.607													T	113629392	C	T	113629392	2	4	155	1	0	0	0	0	0	0	0	1	1697	680	24	3		3	C12orf52	12	113629392	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	702482	113629392	20222503	59	10702											
DNAH10	196385	broad.mit.edu	37	12	124393905	124393905	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:124393905G>A	uc001uft.4	+	56	9584	c.9559G>A	c.(9559-9561)Gtg>Atg	p.V3187M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3187	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCCAAGGGCGTGATGTCCGA	0.502													A	124393905	G	A	124393905	3	1	155	1	0	0	0	0	1	0	0	0	4598	1145	40	1	9785	1	DNAH10	12	124393905	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	10764513	124393905	9457990	60	10703											
GPR133	283383	broad.mit.edu	37	12	131475583	131475583	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:131475583C>T	uc010tbm.2	+	7	1425	c.866C>T	c.(865-867)aCg>aTg	p.T289M	GPR133_uc001uit.4_Missense_Mutation_p.T257M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	257					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTGTCTTCAACGCTGCCAAGC	0.478													T	131475583	C	T	131475583	3	4	155	1	0	0	0	0	1	0	0	0	6643	536	19	1	796	1	GPR133	12	131475583	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	7081678	131475583	2376312	61	10704											
MDGA2	161357	broad.mit.edu	37	14	47389235	47389235	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:47389235A>G	uc001wwj.4	-	9	2376	c.2218T>C	c.(2218-2220)Tac>Cac	p.Y740H	MDGA2_uc001wwi.4_Missense_Mutation_p.Y442H|MDGA2_uc010ani.3_Missense_Mutation_p.Y231H	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	671					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAACCGGTATGCAACAATC	0.423													G	47389235	A	G	47389235	3	3	155	1	0	0	0	0	1	0	0	0	9407	449	16	4	891	4	MDGA2	14	47389235	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08		47389235	59960305	62	10705											
SYNE2	23224	broad.mit.edu	37	14	64686074	64686074	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:64686074G>A	uc001xgl.3	+	109	20036	c.19806G>A	c.(19804-19806)atG>atA	p.M6602I	SYNE2_uc001xgm.3_Missense_Mutation_p.M6579I|SYNE2_uc010apy.3_Missense_Mutation_p.M2964I|SYNE2_uc001xgn.3_Missense_Mutation_p.M1541I|SYNE2_uc021rui.1_Missense_Mutation_p.M1540I|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.M549I|SYNE2_uc001xgq.3_Missense_Mutation_p.M944I|SYNE2_uc001xgr.3_Missense_Mutation_p.M362I|SYNE2_uc010tsi.2_Missense_Mutation_p.M236I|SYNE2_uc001xgs.3_Missense_Mutation_p.M236I|SYNE2_uc001xgt.3_Missense_Mutation_p.M110I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6579					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			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)		TGTTAAAGATGGCAAAGCCTC	0.433													A	64686074	G	A	64686074	3	1	155	1	0	0	0	0	1	0	0	0	15443	1348	47	3	20240	3	SYNE2	14	64686074	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	17296839	64686074	42663466	63	10706											
LTBP2	4053	broad.mit.edu	37	14	75078500	75078500	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:75078500C>T	uc001xqa.3	-	0	535	c.148G>A	c.(148-150)Gcg>Acg	p.A50T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	50					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTCGATTCGCGTCTCCACCA	0.692													T	75078500	C	T	75078500	3	4	155	1	0	0	0	0	1	0	0	0	9074	768	27	1	5461	1	LTBP2	14	75078500	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	10392426	75078500	32271040	64	10707											
AK7	122481	broad.mit.edu	37	14	96875256	96875256	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:96875256C>T	uc001yfn.2	+	3	520	c.476C>T	c.(475-477)gCg>gTg	p.A159V		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	159					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.W158R(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGACTTGGGCGCGCTCCAAA	0.473													T	96875256	C	T	96875256	3	4	155	1	0	0	0	0	1	0	0	0	444	768	27	1	490	1	AK7	14	96875256	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	21796756	96875256	10474284	65	10708											
PACS2	23241	broad.mit.edu	37	14	105859121	105859121	+	Silent	SNP	C	C	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:105859121C>G	uc001yqu.3	+	22	2925	c.2421C>G	c.(2419-2421)ggC>ggG	p.G807G	PACS2_uc001yqs.2_Silent_p.G717G|PACS2_uc001yqt.3_Silent_p.G792G|PACS2_uc001yqv.3_Silent_p.G796G	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	792					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCAGCAGCGGCGAGGCTGCAG	0.612													G	105859121	C	G	105859121	2	3	155	1	0	0	0	0	0	0	0	1	11373	755	27	5		5	PACS2	14	105859121	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	8983865	105859121	1490419	66	10709											
TRPM1	4308	broad.mit.edu	37	15	31295059	31295059	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr15:31295059G>A	uc021sia.1	-	26	4209	c.3895C>T	c.(3895-3897)Cgg>Tgg	p.R1299W	TRPM1_uc010azy.3_Missense_Mutation_p.R1167W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R1282W|TRPM1_uc001zfm.3_Missense_Mutation_p.R1260W	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1260					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.R1260W(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)		CTGCTTTGCCGGAGAAGATAC	0.473													A	31295059	G	A	31295059	3	1	155	1	0	0	0	0	1	0	0	0	16582	1115	39	2	1037	2	TRPM1	15	31295059	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		31295059	71236333	67	10710											
FBXL16	146330	broad.mit.edu	37	16	745854	745854	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:745854C>T	uc021taa.1	-	2	1031	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_Missense_Mutation_p.G23R	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	235										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GACCACAGCCCGGCCTCGGTG	0.672													T	745854	C	T	745854	3	4	155	1	0	0	0	0	1	0	0	0	5712	652	23	2	752	2	FBXL16	16	745854	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		745854	89608899	68	10711											
CHTF18	63922	broad.mit.edu	37	16	839297	839297	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:839297C>G	uc002ckf.4	+	1	521	c.458C>G	c.(457-459)tCc>tGc	p.S153C	RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.S125C|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.S125C|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_Intron	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	125					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTCCCGACTCCTCGCCGACG	0.662													G	839297	C	G	839297	3	3	155	1	0	0	0	0	1	0	0	0	3414	855	30	5	384	5	CHTF18	16	839297	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	93443	839297	89515456	69	10712											
GP2	2813	broad.mit.edu	37	16	20328646	20328646	+	Silent	SNP	G	G	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:20328646G>T	uc002dgv.3	-	8	1397	c.1314C>A	c.(1312-1314)tcC>tcA	p.S438S	GP2_uc002dgw.3_Silent_p.S435S|GP2_uc002dgx.3_Silent_p.S291S|GP2_uc002dgy.3_Silent_p.S288S	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	438	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCTTTCCGAGGACTGCCCAT	0.468													T	20328646	G	T	20328646	2	4	155	1	0	0	0	0	0	0	0	1	6582	987	35	5		5	GP2	16	20328646	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	19489349	20328646	70026107	70	10713											
DNAH3	55567	broad.mit.edu	37	16	21053361	21053361	+	Silent	SNP	G	G	A	rs150869091	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:21053361G>A	uc010vbe.2	-	31	4626	c.4626C>T	c.(4624-4626)ccC>ccT	p.P1542P		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1542	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAGATTGTCGGGCAGTTCAG	0.512													A	21053361	G	A	21053361	2	1	155	1	0	0	0	0	0	0	0	1	4603	1103	39	2		2	DNAH3	16	21053361	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	724715	21053361	69301392	71	10714											
ZNF423	23090	broad.mit.edu	37	16	49671646	49671646	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:49671646G>C	uc002efs.3	-	4	1715	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E	ZNF423_uc010vgn.2_Missense_Mutation_p.Q356E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	473					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGCCAAACTGCATCACAGGG	0.577													C	49671646	G	C	49671646	3	2	155	1	0	0	0	0	1	0	0	0	17895	1328	46	5	2457	5	ZNF423	16	49671646	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	28618285	49671646	40683107	72	10715											
OR1D2	4991	broad.mit.edu	37	17	2995386	2995386	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:2995386C>A	uc010vrb.2	-	0	905	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	302					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATCTAGGAGTCTTCCCAGAGC	0.463													A	2995386	C	A	2995386	3	1	155	1	0	0	0	0	1	0	0	0	10953	913	32	5	36	5	OR1D2	17	2995386	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		2995386	78199824	73	10716											
NF1	4763	broad.mit.edu	37	17	29508439	29508439	+	Splice_Site	SNP	G	G	A	rs66734387		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:29508439G>A	uc002hgg.3	+	6	970	c.587_splice	c.e6-1	p.E196_splice	NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Splice_Site_p.E56_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	196					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTTTCCAGAAACAGCATT	0.299			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29508439	G	A	29508439	5	1	155	1	0	0	0	0	0	0	1	0	10356	956	33	3	608	3	NF1	17	29508439	Splice_Site	SNP	G	TCGA-19-2620-01A-01D-1495-08	26513053	29508439	51686771	74	10717											
WNT9B	7484	broad.mit.edu	37	17	44949992	44949992	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:44949992C>T	uc002ikw.1	+	1	224	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	WNT9B_uc002ikx.1_Missense_Mutation_p.R63W	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	63					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			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTGTCCCGGCGGCAGAAGCA	0.682													T	44949992	C	T	44949992	3	4	155	1	0	0	0	0	1	0	0	0	17396	759	27	1	193	1	WNT9B	17	44949992	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	15441553	44949992	36245218	75	10718											
IGF2BP1	10642	broad.mit.edu	37	17	47118832	47118832	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:47118832A>C	uc002iom.3	+	7	1245	c.911A>C	c.(910-912)cAa>cCa	p.Q304P	IGF2BP1_uc010dbj.3_Missense_Mutation_p.Q165P	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	304	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGGTAGAGCAAGATACCGAG	0.498													C	47118832	A	C	47118832	3	2	155	1	0	0	0	0	1	0	0	0	7573	130	5	5	941	5	IGF2BP1	17	47118832	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	2168840	47118832	34076378	76	10719											
SDK2	54549	broad.mit.edu	37	17	71418469	71418469	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:71418469C>T	uc010dfm.3	-	14	2002	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	SDK2_uc010dfn.2_Missense_Mutation_p.V347I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	668	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACGTCGTTGACGGCACAAAGA	0.617													T	71418469	C	T	71418469	3	4	155	1	0	0	0	0	1	0	0	0	13969	536	19	1	4640	1	SDK2	17	71418469	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	24299637	71418469	9776741	77	10720											
LAMA1	284217	broad.mit.edu	37	18	6999962	6999962	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr18:6999962C>T	uc002knm.3	-	30	4511	c.4417G>A	c.(4417-4419)Gat>Aat	p.D1473N	LAMA1_uc010wzj.2_Missense_Mutation_p.D949N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1473	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACGGAAATCGTGGTCCCCT	0.423													T	6999962	C	T	6999962	3	4	155	1	0	0	0	0	1	0	0	0	8605	884	31	2	4942	2	LAMA1	18	6999962	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		6999962	71077286	78	10721											
RIOK3	8780	broad.mit.edu	37	18	21043044	21043044	+	Splice_Site	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr18:21043044G>A	uc002kui.4	+	2	796	c.179_splice	c.e2+1	p.A60_splice	RIOK3_uc010dls.3_Splice_Site_p.A60_splice|RIOK3_uc010xas.2_Splice_Site_p.A60_splice	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	60					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGAAGTTGCGTAAGTAAAAT	0.363													A	21043044	G	A	21043044	5	1	155	1	0	0	0	0	0	0	1	0	13379	1159	40	1	186	1	RIOK3	18	21043044	Splice_Site	SNP	G	TCGA-19-2620-01A-01D-1495-08	14043082	21043044	57034204	79	10722											
DOCK6	57572	broad.mit.edu	37	19	11353971	11353971	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:11353971C>T	uc002mqs.4	-	11	1390	c.1349G>A	c.(1348-1350)cGt>cAt	p.R450H		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	450					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R450C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CGTGGCTGGACGGAAGCCAGA	0.677											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	11353971	C	T	11353971	3	4	155	1	0	0	0	0	1	0	0	0	4691	536	19	1	4942	1	DOCK6	19	11353971	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		11353971	47775012	80	10723											
OR7A10	390892	broad.mit.edu	37	19	14952342	14952342	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:14952342G>A	uc002mzx.1	-	0	348	c.348C>T	c.(346-348)acC>acT	p.T116T		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AGGCCATCACGGTCAGAAGGA	0.483													A	14952342	G	A	14952342	2	1	155	1	0	0	0	0	0	0	0	1	11214	1103	39	2		2	OR7A10	19	14952342	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	3598371	14952342	44176641	81	10724											
FCGBP	8857	broad.mit.edu	37	19	40364217	40364217	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:40364217G>A	uc002omp.4	-	30	14433	c.14425C>T	c.(14425-14427)Ccg>Tcg	p.P4809S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4809						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAGGGCCCGGGTAGAAGACC	0.657													A	40364217	G	A	40364217	3	1	155	1	0	0	0	0	1	0	0	0	5778	1232	43	3	1816	3	FCGBP	19	40364217	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	25411875	40364217	18764766	82	10725											
EML2	24139	broad.mit.edu	37	19	46112931	46112931	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:46112931C>T	uc010xxm.2	-	21	2616	c.2543G>A	c.(2542-2544)cGg>cAg	p.R848Q	EML2_uc002pcn.3_Missense_Mutation_p.R647Q|EML2_uc002pcp.3_Missense_Mutation_p.R531Q|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.R794Q	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	647					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TCAGACCACCCGCCACTGTAG	0.537													T	46112931	C	T	46112931	3	4	155	1	0	0	0	0	1	0	0	0	5097	652	23	2	13	2	EML2	19	46112931	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	5748714	46112931	13016052	83	10726											
ELSPBP1	64100	broad.mit.edu	37	19	48525436	48525436	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:48525436C>T	uc002pht.3	+	5	702	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	175					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGAATTTCCGCGTTGGTCCCT	0.453													T	48525436	C	T	48525436	3	4	155	1	0	0	0	0	1	0	0	0	5083	768	27	1	542	1	ELSPBP1	19	48525436	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	2412505	48525436	10603547	84	10727											
PROKR2	128674	broad.mit.edu	37	20	5282952	5282952	+	Missense_Mutation	SNP	C	C	T	rs139399061	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:5282952C>T	uc010zqw.2	-	1	897	c.889G>A	c.(889-891)Gtt>Att	p.V297I	PROKR2_uc010zqx.2_Missense_Mutation_p.V297I|PROKR2_uc010zqy.2_Missense_Mutation_p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	297						integral to membrane|plasma membrane	neuropeptide Y receptor activity			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						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)			T	5282952	C	T	5282952	3	4	155	1	0	0	0	0	1	0	0	0	12553	536	19	1	268	1	PROKR2	20	5282952	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		5282952	57742568	85	10728											
SYCP2	10388	broad.mit.edu	37	20	58489299	58489299	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:58489299G>T	uc002yaz.3	-	9	781	c.642C>A	c.(640-642)gaC>gaA	p.D214E	SYCP2_uc010gju.1_Missense_Mutation_p.D115E	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	214					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTACCTGTAAGTCATAATCTA	0.289													T	58489299	G	T	58489299	3	4	155	1	0	0	0	0	1	0	0	0	15429	1020	36	5	4090	5	SYCP2	20	58489299	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	53206347	58489299	4536221	86	10729											
ARFGAP1	55738	broad.mit.edu	37	20	61907550	61907550	+	Silent	SNP	C	C	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:61907550C>A	uc002yem.3	+	2	280	c.168C>A	c.(166-168)ctC>ctA	p.L56L	ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.3_Silent_p.L56L|ARFGAP1_uc002yen.3_Silent_p.L56L	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	56	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGGTTCACCTCAGGTCAGTGT	0.642													A	61907550	C	A	61907550	2	1	155	1	0	0	0	0	0	0	0	1	849	813	29	5		5	ARFGAP1	20	61907550	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	3418251	61907550	1117970	87	10730											
KLHL13	90293	broad.mit.edu	37	X	117043736	117043736	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chrX:117043736C>T	uc011mtp.2	-	5	1036	c.903G>A	c.(901-903)acG>acA	p.T301T	KLHL13_uc004eqk.3_Silent_p.T247T|KLHL13_uc004eql.3_Silent_p.T298T|KLHL13_uc011mtn.2_Silent_p.T138T|KLHL13_uc011mto.2_Silent_p.T292T|KLHL13_uc011mtq.2_Silent_p.T282T|KLHL13_uc004eqm.3_Silent_p.T256T|KLHL13_uc022cde.1_Silent_p.T282T	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	298					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGAAATCCACCGTTTGCACGT	0.423													T	117043736	C	T	117043736	2	4	155	1	0	0	0	0	0	0	0	1	8369	639	23	2		2	KLHL13	23	117043736	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08		117043736	38226824	88	10731											
TAS1R1	80835	broad.mit.edu	37	1	6631015	6631015	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:6631015C>T	uc001ant.3	+	1	334	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TAS1R1_uc001anu.3_Missense_Mutation_p.R80W|TAS1R1_uc021ofp.1_Missense_Mutation_p.R2W	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	80					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGCTATGCGGCTTGGGGT	0.532													T	6631015	C	T	6631015	3	4	156	1	0	0	0	0	1	0	0	0	15559	759	27	1	244	1	TAS1R1	1	6631015	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		6631015	242619606	1	10732											
RERE	473	broad.mit.edu	37	1	8419927	8419927	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:8419927C>T	uc001ape.3	-	19	4325	c.3515G>A	c.(3514-3516)cGc>cAc	p.R1172H	RERE_uc001apf.3_Missense_Mutation_p.R1172H|RERE_uc001apd.3_Missense_Mutation_p.R618H	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1172					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAGCCTCGCGCTTGGCCTT	0.662													T	8419927	C	T	8419927	3	4	156	1	0	0	0	0	1	0	0	0	13231	768	27	1	1205	1	RERE	1	8419927	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1788912	8419927	240830694	2	10733											
HTR6	3362	broad.mit.edu	37	1	19992747	19992747	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:19992747C>T	uc001bcl.3	+	0	968	c.501C>T	c.(499-501)caC>caT	p.H167H		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	167					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		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;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TGGGCTGGCACGAGCTGGGCC	0.711													T	19992747	C	T	19992747	2	4	156	1	0	0	0	0	0	0	0	1	7451	535	19	1		1	HTR6	1	19992747	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	11572820	19992747	229257874	3	10734											
RNF19B	127544	broad.mit.edu	37	1	33402782	33402782	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:33402782C>T	uc010oho.2	-	8	1824	c.1824G>A	c.(1822-1824)acG>acA	p.T608T	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Silent_p.T607T	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	608						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGAGTCCTCCGTGCTGCTTC	0.502													T	33402782	C	T	33402782	2	4	156	1	0	0	0	0	0	0	0	1	13471	639	23	2		2	RNF19B	1	33402782	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	13410035	33402782	215847839	4	10735											
COL9A2	1298	broad.mit.edu	37	1	40770007	40770007	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:40770007G>A	uc001cfh.1	-	23	1384	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	COL9A2_uc001cfi.1_Silent_p.G243G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	424	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTCCTTTGACGCCTGGCAAGC	0.607													A	40770007	G	A	40770007	2	1	156	1	0	0	0	0	0	0	0	1	3708	1074	38	1		1	COL9A2	1	40770007	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	7367225	40770007	208480614	5	10736											
LRRC7	57554	broad.mit.edu	37	1	70504762	70504762	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:70504762G>C	uc001dep.3	+	18	3171	c.3141G>C	c.(3139-3141)agG>agC	p.R1047S	LRRC7_uc009wbg.3_Missense_Mutation_p.R331S|LRRC7_uc001deq.3_Missense_Mutation_p.R288S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1047						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGAAAAGAGGATACCACCCC	0.448													C	70504762	G	C	70504762	3	2	156	1	0	0	0	0	1	0	0	0	9020	1165	41	5	3215	5	LRRC7	1	70504762	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	29734755	70504762	178745859	6	10737											
PTGFR	5737	broad.mit.edu	37	1	78958623	78958623	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:78958623G>A	uc001din.3	+	1	461	c.195G>A	c.(193-195)tcG>tcA	p.S65S	PTGFR_uc001dim.3_Silent_p.S65S	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	65					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.S65S(3)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCAAGGCATCGTTTCTGCTTT	0.423													A	78958623	G	A	78958623	2	1	156	1	0	0	0	0	0	0	0	1	12749	1132	40	1		1	PTGFR	1	78958623	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	8453861	78958623	170291998	7	10738											
GBP4	115361	broad.mit.edu	37	1	89650937	89650937	+	Nonstop_Mutation	SNP	T	T	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:89650937T>A	uc001dnb.3	-	10	2039	c.1923A>T	c.(1921-1923)taA>taT	p.*641Y		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	0						cytoplasm	GTP binding|GTPase activity			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)		ATTCAGGCTCTTAAATACGTG	0.343													A	89650937	T	A	89650937	4	1	156	1	0	0	0	0	0	0	0	0	6276	1616	56	5	3	5	GBP4	1	89650937	Nonstop_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	10692314	89650937	159599684	8	10739											
NBPF10	400818	broad.mit.edu	37	1	144823890	144823890	+	Nonsense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:144823890C>G	uc009wig.1	+	15	2119	c.1925C>G	c.(1924-1926)tCa>tGa	p.S642*	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Nonsense_Mutation_p.S445*|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Nonsense_Mutation_p.S304*	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	644										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)		TCAACTCCTTCAGGTTGTCTT	0.483													G	144823890	C	G	144823890	4	3	156	1	0	0	0	0	0	1	0	0	10193	838	29	5		5	NBPF10	1	144823890	Nonsense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	55172953	144823890	104426731	9	10740											
FLG	2312	broad.mit.edu	37	1	152283564	152283564	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:152283564C>A	uc001ezu.1	-	2	3834	c.3798G>T	c.(3796-3798)caG>caT	p.Q1266H	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1266	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			CACTGGATCCCTGGTGCCTGC	0.562									Ichthyosis				A	152283564	C	A	152283564	3	1	156	1	0	0	0	0	1	0	0	0	5922	680	24	5	8391	5	FLG	1	152283564	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	7459674	152283564	96967057	10	10741											
OR6N2	81442	broad.mit.edu	37	1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	rs144962739		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:158746549G>A	uc010pir.2	-	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418													A	158746549	G	A	158746549	3	1	156	1	0	0	0	0	1	0	0	0	11207	1058	37	2	79	2	OR6N2	1	158746549	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	6462985	158746549	90504072	11	10742											
IGSF8	93185	broad.mit.edu	37	1	160064843	160064843	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:160064843G>A	uc001fva.3	-	1	303	c.258C>T	c.(256-258)ttC>ttT	p.F86F	IGSF8_uc001fuz.3_Silent_p.F86F|IGSF8_uc009wtf.3_Silent_p.F86F	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	86	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.Q85L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGCATAGGAGAACTGGGTAT	0.602													A	160064843	G	A	160064843	2	1	156	1	0	0	0	0	0	0	0	1	7604	933	33	3		3	IGSF8	1	160064843	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	1318294	160064843	89185778	12	10743											
SEC16B	89866	broad.mit.edu	37	1	177927423	177927423	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:177927423G>A	uc001glj.1	-	14	2078	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	SEC16B_uc001glk.1_Silent_p.P80P|SEC16B_uc001glh.1_Silent_p.P62P|SEC16B_uc001gli.1_Silent_p.P403P|SEC16B_uc009wwz.1_Silent_p.P62P|SEC16B_uc001gll.4_Silent_p.P404P	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	403					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCACAGGGGGCTGCCGCT	0.587													A	177927423	G	A	177927423	2	1	156	1	0	0	0	0	0	0	0	1	13987	1219	43	3		3	SEC16B	1	177927423	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	17862580	177927423	71323198	13	10744											
GPATCH2	55105	broad.mit.edu	37	1	217688167	217688167	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:217688167T>C	uc001hlf.1	-	5	1259	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R		NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	388						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TACTCACTCATGGTGATGAGA	0.353													C	217688167	T	C	217688167	3	2	156	1	0	0	0	0	1	0	0	0	6591	1464	51	4	443	4	GPATCH2	1	217688167	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	39760744	217688167	31562454	14	10745											
NVL	4931	broad.mit.edu	37	1	224514105	224514105	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:224514105T>C	uc001hok.3	-	1	181	c.119A>G	c.(118-120)cAa>cGa	p.Q40R	NVL_uc001hol.3_Intron|NVL_uc010pvd.2_Missense_Mutation_p.Q40R|NVL_uc010pve.2_Intron|NVL_uc010pvf.2_Intron|NVL_uc010pvg.2_Missense_Mutation_p.Q40R	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	40						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GTACACTCTTTGTAAATCAGA	0.318													C	224514105	T	C	224514105	3	2	156	1	0	0	0	0	1	0	0	0	10780	1812	63	4	2539	4	NVL	1	224514105	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	6825938	224514105	24736516	15	10746											
DYSF	8291	broad.mit.edu	37	2	71909724	71909724	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:71909724C>T	uc010fen.3	+	54	6379	c.6238C>T	c.(6238-6240)Cgg>Tgg	p.R2080W	DYSF_uc010fei.3_Missense_Mutation_p.R2058W|DYSF_uc010feh.3_Missense_Mutation_p.R2048W|DYSF_uc002sig.4_Missense_Mutation_p.R2027W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R2072W|DYSF_uc010fee.3_Missense_Mutation_p.R2062W|DYSF_uc010fef.3_Missense_Mutation_p.R2079W|DYSF_uc002sie.3_Missense_Mutation_p.R2041W|DYSF_uc010feo.3_Missense_Mutation_p.R2073W|DYSF_uc010fej.3_Missense_Mutation_p.R2049W|DYSF_uc010fel.3_Missense_Mutation_p.R2028W|DYSF_uc010fem.3_Missense_Mutation_p.R2063W|DYSF_uc002sif.3_Missense_Mutation_p.R2042W|DYSF_uc010fek.3_Missense_Mutation_p.R2059W|DYSF_uc010yqy.2_Missense_Mutation_p.R922W|DYSF_uc010yqz.2_Missense_Mutation_p.R802W	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2041						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCCTGTGGCGGCGTTTCCG	0.582													T	71909724	C	T	71909724	3	4	156	1	0	0	0	0	1	0	0	0	4859	759	27	1	6594	1	DYSF	2	71909724	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		71909724	171289649	16	10747											
ASTL	431705	broad.mit.edu	37	2	96798441	96798441	+	Missense_Mutation	SNP	G	G	A	rs145986421		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:96798441G>A	uc010yui.2	-	5	475	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	159					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCCACTGCGCCCCACACTC	0.627													A	96798441	G	A	96798441	3	1	156	1	0	0	0	0	1	0	0	0	1063	1087	38	1	835	1	ASTL	2	96798441	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	24888717	96798441	146400932	17	10748											
NEB	4703	broad.mit.edu	37	2	152470900	152470900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:152470900G>A	uc021vrb.1	-	71	10791	c.10762C>T	c.(10762-10764)Cag>Tag	p.Q3588*	NEB_uc002txu.3_Nonsense_Mutation_p.Q3831*|NEB_uc021vrc.1_Nonsense_Mutation_p.Q3831*|NEB_uc010fnx.3_Nonsense_Mutation_p.Q3576*|NEB_uc021vrd.1_Nonsense_Mutation_p.Q3588*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3588					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAAGGATCTGACACTTCTTG	0.527													A	152470900	G	A	152470900	4	1	156	1	0	0	0	0	0	1	0	0	10302	1299	45	3	14619	3	NEB	2	152470900	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	55672459	152470900	90728473	18	10749											
ZNF804A	91752	broad.mit.edu	37	2	185801478	185801478	+	Nonsense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:185801478C>G	uc002uph.3	+	3	1949	c.1355C>G	c.(1354-1356)tCa>tGa	p.S452*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	452						intracellular	zinc ion binding			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						ACGAAACCATCAATTTCCTAT	0.333													G	185801478	C	G	185801478	4	3	156	1	0	0	0	0	0	1	0	0	18167	838	29	5	1369	5	ZNF804A	2	185801478	Nonsense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	33330578	185801478	57397895	19	10750											
COL3A1	1281	broad.mit.edu	37	2	189851838	189851838	+	Silent	SNP	A	A	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:189851838A>G	uc002uqj.1	+	4	618	c.501A>G	c.(499-501)ggA>ggG	p.G167G		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	167	Nonhelical region (N-terminal).				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			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)	TAGCAGTAGGAGGACTCGCAG	0.403													G	189851838	A	G	189851838	2	3	156	1	0	0	0	0	0	0	0	1	3688	291	11	4		4	COL3A1	2	189851838	Silent	SNP	A	TCGA-19-2623-01A-01D-1495-08	4050360	189851838	53347535	20	10751											
COL3A1	1281	broad.mit.edu	37	2	189864035	189864035	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:189864035C>A	uc002uqj.1	+	29	2164	c.2047C>A	c.(2047-2049)Cgt>Agt	p.R683S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	683	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			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)	CCCTGGTGAACGTGGACCTCC	0.493													A	189864035	C	A	189864035	3	1	156	1	0	0	0	0	1	0	0	0	3688	536	19	5	2165	5	COL3A1	2	189864035	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	12197	189864035	53335338	21	10752											
ANKAR	150709	broad.mit.edu	37	2	190571779	190571779	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:190571779A>C	uc002uqw.2	+	8	2114	c.2026A>C	c.(2026-2028)Atc>Ctc	p.I676L	ANKAR_uc002uqu.3_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	676						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAATAATATAATCCATTTATC	0.343													C	190571779	A	C	190571779	3	2	156	1	0	0	0	0	1	0	0	0	623	101	4	5	2056	5	ANKAR	2	190571779	Missense_Mutation	SNP	A	TCGA-19-2623-01A-01D-1495-08	707744	190571779	52627594	22	10753											
ZNF142	7701	broad.mit.edu	37	2	219507508	219507508	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:219507508C>T	uc002vin.3	-	7	4167	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H	ZNF142_uc002vil.3_Missense_Mutation_p.R1205H|ZNF142_uc010fvt.3_Missense_Mutation_p.R1081H|ZNF142_uc002vim.3_Missense_Mutation_p.R1081H	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCGGTGCAAGCGCAGTTTCGA	0.542													T	219507508	C	T	219507508	3	4	156	1	0	0	0	0	1	0	0	0	17728	768	27	1	1344	1	ZNF142	2	219507508	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	28935729	219507508	23691865	23	10754											
TRPM8	79054	broad.mit.edu	37	2	234891861	234891861	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:234891861C>T	uc002vvh.3	+	19	2794	c.2754C>T	c.(2752-2754)gaC>gaT	p.D918D	TRPM8_uc010fyj.3_Silent_p.D496D|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	918						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGCCCAGTGACGTGGATGGTA	0.592													T	234891861	C	T	234891861	2	4	156	1	0	0	0	0	0	0	0	1	16589	535	19	1		1	TRPM8	2	234891861	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	15384353	234891861	8307512	24	10755											
CAND2	23066	broad.mit.edu	37	3	12858462	12858462	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:12858462C>T	uc003bxk.2	+	9	2080	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	CAND2_uc003bxj.2_Silent_p.D584D	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	677					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.D584D(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCCTGGACGCCCTGGCCC	0.662													T	12858462	C	T	12858462	2	4	156	1	0	0	0	0	0	0	0	1	2616	535	19	1		1	CAND2	3	12858462	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08		12858462	185163968	25	10756											
SCN10A	6336	broad.mit.edu	37	3	38748876	38748876	+	Splice_Site	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:38748876T>C	uc003ciq.3	-	25	4282	c.4282_splice	c.e25-1	p.L1428_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1428					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCCCCTAAGTGCAGAGAGGG	0.512													C	38748876	T	C	38748876	5	2	156	1	0	0	0	0	0	0	1	0	13912	1710	59	4	1602	4	SCN10A	3	38748876	Splice_Site	SNP	T	TCGA-19-2623-01A-01D-1495-08	25890414	38748876	159273554	26	10757											
PCOLCE2	26577	broad.mit.edu	37	3	142557612	142557612	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:142557612G>A	uc003evd.3	-	5	1017	c.710_splice	c.e5+1	p.A237_splice		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	237	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGCTACTTACGCAGGTGGACT	0.378													A	142557612	G	A	142557612	3	1	156	1	0	0	0	0	1	0	0	0	11595	1101	38	1	557	1	PCOLCE2	3	142557612	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	103808736	142557612	55464818	27	10758											
GPR78	27201	broad.mit.edu	37	4	8582980	8582980	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:8582980T>C	uc003glk.3	+	0	764	c.271T>C	c.(271-273)Tcc>Ccc	p.S91P	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	91					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTTCCTGGCGTCCAACGCGGC	0.706													C	8582980	T	C	8582980	3	2	156	1	0	0	0	0	1	0	0	0	6710	1667	58	4	273	4	GPR78	4	8582980	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		8582980	182571296	28	10759											
NCAPG	64151	broad.mit.edu	37	4	17816578	17816578	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:17816578G>A	uc003gpp.3	+	3	823	c.647G>A	c.(646-648)cGc>cAc	p.R216H	NCAPG_uc011bxj.2_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	216					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATTGTAGGGCGCACCAAGGAT	0.398													A	17816578	G	A	17816578	3	1	156	1	0	0	0	0	1	0	0	0	10207	1087	38	1	661	1	NCAPG	4	17816578	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	9233598	17816578	173337698	29	10760											
LGI2	55203	broad.mit.edu	37	4	25014103	25014103	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:25014103G>T	uc003grf.2	-	6	773	c.674C>A	c.(673-675)aCt>aAt	p.T225N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	225						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GTAGGGTAAAGTCTGATGAAC	0.473													T	25014103	G	T	25014103	3	4	156	1	0	0	0	0	1	0	0	0	8752	1029	36	5	971	5	LGI2	4	25014103	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	7197525	25014103	166140173	30	10761											
GABRG1	2565	broad.mit.edu	37	4	46043100	46043100	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:46043100G>A	uc003gxb.3	-	8	1455	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	435					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R435C(4)		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)		TTGGCAATGCGTATGTGTATC	0.403													A	46043100	G	A	46043100	3	1	156	1	0	0	0	0	1	0	0	0	6171	1145	40	1	98	1	GABRG1	4	46043100	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	21028997	46043100	145111176	31	10762											
UGT2B4	7363	broad.mit.edu	37	4	70361563	70361563	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:70361563G>A	uc003hek.4	-	0	64	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.T6I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	6					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAGAGCTGAAGTCCATTTCAT	0.443													A	70361563	G	A	70361563	3	1	156	1	0	0	0	0	1	0	0	0	16958	1029	36	3	1593	3	UGT2B4	4	70361563	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	24318463	70361563	120792713	32	10763											
PF4	5196	broad.mit.edu	37	4	74847163	74847163	+	Silent	SNP	G	G	A	rs144253863		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:74847163G>A	uc003hhi.2	-	1	234	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_002619	NP_002610	P02776	PLF4_HUMAN	Homo sapiens platelet factor 4 (PF4), mRNA.	63					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	AGTGGGGTCCGGCCTTGATCA	0.612													A	74847163	G	A	74847163	2	1	156	1	0	0	0	0	0	0	0	1	11752	1103	39	2		2	PF4	4	74847163	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	4485600	74847163	116307113	33	10764											
MEPE	56955	broad.mit.edu	37	4	88766796	88766796	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:88766796G>A	uc021xpx.1	+	3	881	c.869G>A	c.(868-870)gGc>gAc	p.G290D	MEPE_uc021xpu.1_Missense_Mutation_p.G259D|MEPE_uc021xpv.1_Missense_Mutation_p.G146D|MEPE_uc021xpw.1_Missense_Mutation_p.G146D|MEPE_uc010ikn.3_Missense_Mutation_p.G146D|MEPE_uc003hqy.3_Missense_Mutation_p.G259D|MEPE_uc021xpy.1_Missense_Mutation_p.G146D	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	259					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			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)		AGTGGGGACGGCCAACCTTTT	0.453													A	88766796	G	A	88766796	3	1	156	1	0	0	0	0	1	0	0	0	9478	1203	42	3	786	3	MEPE	4	88766796	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	13919633	88766796	102387480	34	10765											
FAM13A	10144	broad.mit.edu	37	4	89668975	89668975	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:89668975T>C	uc003hse.1	-	17	2397	c.2189A>G	c.(2188-2190)gAc>gGc	p.D730G	FAM13A_uc003hsa.1_Missense_Mutation_p.D201G|FAM13A_uc003hsb.1_Missense_Mutation_p.D404G|FAM13A_uc003hsd.1_Missense_Mutation_p.D404G|FAM13A_uc003hsc.1_Missense_Mutation_p.D390G|FAM13A_uc011cdq.1_Missense_Mutation_p.D376G|FAM13A_uc003hsf.1_Missense_Mutation_p.D316G|FAM13A_uc003hsg.1_Missense_Mutation_p.D201G	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	730					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGGAGTTAGGTCCTCTTCAGA	0.398													C	89668975	T	C	89668975	3	2	156	1	0	0	0	0	1	0	0	0	5452	1667	58	4	910	4	FAM13A	4	89668975	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	902179	89668975	101485301	35	10766											
CDH18	1016	broad.mit.edu	37	5	19747074	19747074	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:19747074G>A	uc003jgd.3	-	3	1034	c.500C>T	c.(499-501)aCt>aTt	p.T167I	CDH18_uc011cnm.2_Missense_Mutation_p.T167I|CDH18_uc003jgc.3_Missense_Mutation_p.T167I|CDH18_uc021xwu.1_Missense_Mutation_p.T167I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	167	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V166A(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCAGGCACAGTAACAATGTA	0.338													A	19747074	G	A	19747074	3	1	156	1	0	0	0	0	1	0	0	0	3103	1029	36	3	1912	3	CDH18	5	19747074	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		19747074	161168186	36	10767											
HEATR7B2	133558	broad.mit.edu	37	5	41012778	41012778	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:41012778G>A	uc003jmj.4	-	29	3532	c.3042C>T	c.(3040-3042)gaC>gaT	p.D1014D	HEATR7B2_uc003jmi.4_Silent_p.D569D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1014							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCTCCAGACCGTCCAGCATTT	0.478													A	41012778	G	A	41012778	2	1	156	1	0	0	0	0	0	0	0	1	7035	1136	40	1		1	HEATR7B2	5	41012778	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	21265704	41012778	139902482	37	10768											
TTC37	9652	broad.mit.edu	37	5	94834176	94834176	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:94834176T>A	uc003klb.3	-	32	3758	c.3461A>T	c.(3460-3462)cAc>cTc	p.H1154L		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1154							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACTGTCTTTGTGTTTGATGTG	0.448													A	94834176	T	A	94834176	3	1	156	1	0	0	0	0	1	0	0	0	16702	1696	59	5	1277	5	TTC37	5	94834176	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	53821398	94834176	86081084	38	10769											
SPOCK1	6695	broad.mit.edu	37	5	136476318	136476318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:136476318G>A	uc003lbo.3	-	2	489	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	SPOCK1_uc003lbp.3_Nonsense_Mutation_p.Q100*	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	100					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGTAGTCCTGGGTCACACAC	0.617													A	136476318	G	A	136476318	4	1	156	1	0	0	0	0	0	1	0	0	15078	1357	47	3	1053	3	SPOCK1	5	136476318	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	41642142	136476318	44438942	39	10770											
GTF2H4	2968	broad.mit.edu	37	6	30876944	30876944	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:30876944T>G	uc003nsa.1	+	1	338	c.131T>G	c.(130-132)gTc>gGc	p.V44G	GTF2H4_uc010jsf.2_Missense_Mutation_p.V44G|GTF2H4_uc011dmv.1_Intron	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	44					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGTCTGGCTGTCTTCAGGTGA	0.527								Nucleotide excision repair (NER)					G	30876944	T	G	30876944	3	3	156	1	0	0	0	0	1	0	0	0	6865	1667	58	5	133	5	GTF2H4	6	30876944	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		30876944	140238123	40	10771											
AARS2	57505	broad.mit.edu	37	6	44268962	44268962	+	Silent	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:44268962G>C	uc010jza.1	-	20	2727	c.2724C>G	c.(2722-2724)ccC>ccG	p.P908P	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	908					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CAGACGTGCTGGGGGCCTGCT	0.647													C	44268962	G	C	44268962	2	2	156	1	0	0	0	0	0	0	0	1	20	1335	47	5		5	AARS2	6	44268962	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	13392018	44268962	126846105	41	10772											
LGSN	51557	broad.mit.edu	37	6	63991036	63991036	+	Silent	SNP	G	G	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:63991036G>T	uc003peh.3	-	3	454	c.420C>A	c.(418-420)gcC>gcA	p.A140A	LGSN_uc003pei.3_Silent_p.A140A	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	140					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TAAAACATGTGGCTCTTATGT	0.408													T	63991036	G	T	63991036	2	4	156	1	0	0	0	0	0	0	0	1	8759	1335	47	5		5	LGSN	6	63991036	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	19722074	63991036	107124031	42	10773											
SLC22A2	6582	broad.mit.edu	37	6	160679391	160679391	+	Silent	SNP	C	C	T	rs112210325	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:160679391C>T	uc003qtf.3	-	0	573	c.399G>A	c.(397-399)tcG>tcA	p.S133S	SLC22A2_uc003qth.2_Silent_p.S133S	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	133					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGACGATGGACGAGCCAGGCG	0.627													T	160679391	C	T	160679391	2	4	156	1	0	0	0	0	0	0	0	1	14450	523	19	1		1	SLC22A2	6	160679391	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	96688355	160679391	10435676	43	10774											
MAD1L1	8379	broad.mit.edu	37	7	2269722	2269722	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:2269722G>A	uc003slh.1	-	2	313	c.47C>T	c.(46-48)tCt>tTt	p.S16F	MAD1L1_uc003slf.1_Missense_Mutation_p.S16F|MAD1L1_uc003slg.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksh.1_Missense_Mutation_p.S16F|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksj.3_Missense_Mutation_p.S16F	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	16					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTTGTTCAAAGATCTCAGGGT	0.537													A	2269722	G	A	2269722	3	1	156	1	0	0	0	0	1	0	0	0	9147	942	33	3	2177	3	MAD1L1	7	2269722	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		2269722	156868941	44	10775											
SDK1	221935	broad.mit.edu	37	7	4009042	4009042	+	Missense_Mutation	SNP	C	C	T	rs145189416		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:4009042C>T	uc003smx.3	+	10	1839	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	567	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.T567T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCATCGGCCACGCTCACTGTG	0.587													T	4009042	C	T	4009042	3	4	156	1	0	0	0	0	1	0	0	0	13968	536	19	1	1742	1	SDK1	7	4009042	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1739320	4009042	155129621	45	10776											
POM121L12	285877	broad.mit.edu	37	7	53103741	53103741	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:53103741G>A	uc003tpz.3	+	0	393	c.377G>A	c.(376-378)cGt>cAt	p.R126H		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	126										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGCTGTGTCGTGCCTGGAAC	0.701													A	53103741	G	A	53103741	3	1	156	1	0	0	0	0	1	0	0	0	12241	1145	40	1	379	1	POM121L12	7	53103741	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	49094699	53103741	106034922	46	10777											
DGKI	9162	broad.mit.edu	37	7	137363356	137363356	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:137363356C>T	uc003vtt.3	-	2	554	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	185					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTCCCGAGACGTTGGTCTCC	0.507													T	137363356	C	T	137363356	3	4	156	1	0	0	0	0	1	0	0	0	4471	536	19	1	2772	1	DGKI	7	137363356	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	84259615	137363356	21775307	47	10778											
HTR5A	3361	broad.mit.edu	37	7	154863096	154863096	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:154863096G>A	uc003wlu.1	+	0	551	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGTCATGATCGCGCTCACCTG	0.627													A	154863096	G	A	154863096	3	1	156	1	0	0	0	0	1	0	0	0	7450	1087	38	1	489	1	HTR5A	7	154863096	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	17499740	154863096	4275567	48	10779											
EN2	2020	broad.mit.edu	37	7	155251752	155251752	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:155251752C>T	uc003wmb.3	+	0	929	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001427	NP_001418	P19622	HME2_HUMAN	Homo sapiens engrailed homeobox 2 (EN2), mRNA.	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCGGCCTTCTTCAGGTGAG	0.726													T	155251752	C	T	155251752	3	4	156	1	0	0	0	0	1	0	0	0	5110	913	32	3	682	3	EN2	7	155251752	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	388656	155251752	3886911	49	10780											
LMBR1	64327	broad.mit.edu	37	7	156521400	156521400	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:156521400C>G	uc010lqn.3	-	11	1191	c.976G>C	c.(976-978)Gct>Cct	p.A326P	LMBR1_uc003wmv.4_Missense_Mutation_p.A133P|LMBR1_uc003wmw.4_Missense_Mutation_p.A285P|LMBR1_uc003wmx.4_Missense_Mutation_p.A133P|LMBR1_uc011kvx.2_Missense_Mutation_p.A264P	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	285						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATGCTGAAGCCTTTTTTCGC	0.299													G	156521400	C	G	156521400	3	3	156	1	0	0	0	0	1	0	0	0	8840	739	26	5	647	5	LMBR1	7	156521400	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1269648	156521400	2617263	50	10781											
TUSC3	7991	broad.mit.edu	37	8	15508246	15508246	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:15508246C>T	uc003wwt.3	+	2	693	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	TUSC3_uc003wwu.3_Missense_Mutation_p.R117C	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	117					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R117C(2)|p.R117H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GAACTCCTGGCGCTATTCATC	0.398													T	15508246	C	T	15508246	3	4	156	1	0	0	0	0	1	0	0	0	16775	768	27	1	359	1	TUSC3	8	15508246	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		15508246	130855776	51	10782											
MSR1	4481	broad.mit.edu	37	8	16021625	16021625	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:16021625G>C	uc010lsu.3	-	4	884	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V	MSR1_uc003wwz.3_Missense_Mutation_p.L256V|MSR1_uc003wxa.3_Missense_Mutation_p.L256V|MSR1_uc003wxb.3_Missense_Mutation_p.L256V|MSR1_uc011kxz.2_Missense_Mutation_p.L30V	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	256	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAATCTTTCAGTCTGAGATCA	0.308													C	16021625	G	C	16021625	3	2	156	1	0	0	0	0	1	0	0	0	9886	1020	36	5	661	5	MSR1	8	16021625	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	513379	16021625	130342397	52	10783											
EFCAB1	79645	broad.mit.edu	37	8	49643175	49643175	+	Silent	SNP	A	A	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:49643175A>G	uc003xqo.2	-	2	403	c.243T>C	c.(241-243)gaT>gaC	p.D81D	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Silent_p.D29D|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	81	EF-hand 1.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTACACAGCCATCATTATCTT	0.368													G	49643175	A	G	49643175	2	3	156	1	0	0	0	0	0	0	0	1	4933	214	8	4		4	EFCAB1	8	49643175	Silent	SNP	A	TCGA-19-2623-01A-01D-1495-08	33621550	49643175	96720847	53	10784											
COLEC10	10584	broad.mit.edu	37	8	120118082	120118082	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:120118082C>T	uc003yoo.3	+	5	583	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	162	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TCTACTACATCGTGCAGGAAG	0.458													T	120118082	C	T	120118082	2	4	156	1	0	0	0	0	0	0	0	1	3710	874	31	2		2	COLEC10	8	120118082	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	70474907	120118082	26245940	54	10785											
CYP11B1	1584	broad.mit.edu	37	8	143956451	143956451	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:143956451G>A	uc010mey.3	-	9	1540	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	CYP11B1_uc010mex.3_Silent_p.H139H|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Silent_p.H440H|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	440					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAAAGGGCACGTGGTAGAAGT	0.652									Familial Hyperaldosteronism type I				A	143956451	G	A	143956451	2	1	156	1	0	0	0	0	0	0	0	1	4145	1136	40	1		1	CYP11B1	8	143956451	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	23838369	143956451	2407571	55	10786											
TAF1L	138474	broad.mit.edu	37	9	32633905	32633905	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:32633905C>A	uc003zrg.1	-	0	1763	c.1673G>T	c.(1672-1674)cGa>cTa	p.R558L	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	558					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			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)		CAAGAGAATTCGACTCTTCTT	0.458													A	32633905	C	A	32633905	3	1	156	1	0	0	0	0	1	0	0	0	15520	884	31	5	3811	5	TAF1L	9	32633905	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		32633905	108579526	56	10787											
NOL6	65083	broad.mit.edu	37	9	33465223	33465223	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:33465223T>C	uc003zsz.3	-	19	2764	c.2663A>G	c.(2662-2664)gAg>gGg	p.E888G	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.E885G|NOL6_uc011lob.2_Missense_Mutation_p.E836G|NOL6_uc003ztb.1_Missense_Mutation_p.E888G	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	888					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTGAAGGGCTCAGGGTGCAG	0.602													C	33465223	T	C	33465223	3	2	156	1	0	0	0	0	1	0	0	0	10525	1551	54	4	805	4	NOL6	9	33465223	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	831318	33465223	107748208	57	10788											
TRPM3	80036	broad.mit.edu	37	9	73167906	73167906	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:73167906C>T	uc004aid.3	-	22	3636	c.3392G>A	c.(3391-3393)aGg>aAg	p.R1131K	TRPM3_uc004ahu.3_Missense_Mutation_p.R973K|TRPM3_uc004ahv.3_Missense_Mutation_p.R933K|TRPM3_uc004ahw.3_Missense_Mutation_p.R1003K|TRPM3_uc004ahx.3_Missense_Mutation_p.R990K|TRPM3_uc004ahy.3_Missense_Mutation_p.R993K|TRPM3_uc004ahz.3_Missense_Mutation_p.R980K|TRPM3_uc004aia.3_Missense_Mutation_p.R978K|TRPM3_uc004aib.3_Missense_Mutation_p.R968K|TRPM3_uc004aic.3_Missense_Mutation_p.R1131K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1156						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGCTGATACCTCTGAAACTT	0.423													T	73167906	C	T	73167906	3	4	156	1	0	0	0	0	1	0	0	0	16584	681	24	3	1743	3	TRPM3	9	73167906	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	39702683	73167906	68045525	58	10789											
IKBKAP	8518	broad.mit.edu	37	9	111658909	111658909	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:111658909T>A	uc004bdm.4	-	24	3123	c.2603A>T	c.(2602-2604)gAt>gTt	p.D868V	IKBKAP_uc004bdl.3_Missense_Mutation_p.D519V|IKBKAP_uc011lwc.2_Missense_Mutation_p.D754V|IKBKAP_uc010mtq.3_Missense_Mutation_p.D519V	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	868					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCATCAGGATCAGAGGGAGC	0.368													A	111658909	T	A	111658909	3	1	156	1	0	0	0	0	1	0	0	0	7610	1435	50	5	1447	5	IKBKAP	9	111658909	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	38491003	111658909	29554522	59	10790											
SPTAN1	6709	broad.mit.edu	37	9	131371470	131371470	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:131371470G>C	uc004bvl.4	+	35	4807	c.4665G>C	c.(4663-4665)caG>caC	p.Q1555H	SPTAN1_uc004bvm.4_Missense_Mutation_p.Q1555H|SPTAN1_uc004bvn.4_Missense_Mutation_p.Q1535H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1555					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			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						CCCTCCAACAGTTCAGCCGGG	0.473													C	131371470	G	C	131371470	3	2	156	1	0	0	0	0	1	0	0	0	15116	1020	36	5	4803	5	SPTAN1	9	131371470	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	19712561	131371470	9841961	60	10791											
LHX3	8022	broad.mit.edu	37	9	139092592	139092592	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:139092592C>T	uc004cgz.3	-	1	221	c.102G>A	c.(100-102)ccG>ccA	p.P34P	LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Silent_p.P29P	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	29	LIM zinc-binding 1.			C -> R (in Ref. 2; AAF17291).	inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CAGCGCACAGCGGGATCTCTG	0.632													T	139092592	C	T	139092592	2	4	156	1	0	0	0	0	0	0	0	1	8772	755	27	1		1	LHX3	9	139092592	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	7721122	139092592	2120839	61	10792											
OR4P4	81300	broad.mit.edu	37	11	55406513	55406513	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:55406513C>T	uc010rij.2	+	0	680	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S227F(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AGAGCATACTCTGCAGAGAGA	0.393													T	55406513	C	T	55406513	3	4	156	1	0	0	0	0	1	0	0	0	11080	913	32	3	682	3	OR4P4	11	55406513	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		55406513	79600003	62	10793											
OR5D16	390144	broad.mit.edu	37	11	55606713	55606713	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:55606713G>A	uc010rio.2	+	0	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A162T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACACTCGCGTGCTCTGCTT	0.453													A	55606713	G	A	55606713	2	1	156	1	0	0	0	0	0	0	0	1	11156	1132	40	1		1	OR5D16	11	55606713	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	200200	55606713	79399803	63	10794											
PVRL1	5818	broad.mit.edu	37	11	119535607	119535607	+	Nonsense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:119535607G>C	uc001pwv.3	-	5	1576	c.1404C>G	c.(1402-1404)taC>taG	p.Y468*	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	468					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCACGGTGAAGTAGGGCCGCT	0.667													C	119535607	G	C	119535607	4	2	156	1	0	0	0	0	0	1	0	0	12839	1024	36	5	539	5	PVRL1	11	119535607	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	63928894	119535607	15470909	64	10795											
GPR162	10536	broad.mit.edu	37	12	6939135	6939135	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:6939135G>A	uc001qra.1	+	2	642	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	GPR162_uc001qrb.1_Missense_Mutation_p.R11Q|GPR162_uc001qqy.1_Missense_Mutation_p.R139Q	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCGGGAGTTCGGCCCCAGAGC	0.602													A	6939135	G	A	6939135	3	1	156	1	0	0	0	0	1	0	0	0	6666	1116	39	2		2	GPR162	12	6939135	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		6939135	126912760	65	10796											
C12orf39	80763	broad.mit.edu	37	12	21681996	21681996	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:21681996G>A	uc001rfa.1	+	4	421	c.270G>A	c.(268-270)gcG>gcA	p.A90A	C12orf39_uc009ziv.1_Non-coding_Transcript|C12orf39_uc009ziw.1_Non-coding_Transcript	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA.	90						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCTTACTGGCGTCCCTTCAGA	0.438													A	21681996	G	A	21681996	2	1	156	1	0	0	0	0	0	0	0	1	1684	1132	40	1		1	C12orf39	12	21681996	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	14742861	21681996	112169899	66	10797											
ITPR2	3709	broad.mit.edu	37	12	26628304	26628304	+	Silent	SNP	A	A	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:26628304A>G	uc001rhg.3	-	44	6684	c.6267T>C	c.(6265-6267)caT>caC	p.H2089H	ITPR2_uc009zjg.1_Silent_p.H240H	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2089					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CATCATCCCCATGGTCACATT	0.368													G	26628304	A	G	26628304	2	3	156	1	0	0	0	0	0	0	0	1	7921	214	8	4		4	ITPR2	12	26628304	Silent	SNP	A	TCGA-19-2623-01A-01D-1495-08	4946308	26628304	107223591	67	10798											
SPATS2	65244	broad.mit.edu	37	12	49919998	49919998	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:49919998G>A	uc001rud.2	+	13	2587	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.R533H|SPATS2_uc001ruf.2_Missense_Mutation_p.R533H	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	533						cytoplasm		p.R533H(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTCCCCCAGCGCAAACCCAGG	0.522													A	49919998	G	A	49919998	3	1	156	1	0	0	0	0	1	0	0	0	15018	1087	38	1	1644	1	SPATS2	12	49919998	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	23291694	49919998	83931897	68	10799											
MGAT4C	25834	broad.mit.edu	37	12	86373320	86373324	+	Frame_Shift_Del	DEL	TTTAC	TTTAC	-			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:86373320_86373324delTTTAC	uc010sum.2	-	5	1411_1415	c.1252_1256delGTAAA	c.(1252-1257)gtaaatfs	p.V418fs	MGAT4C_uc001tal.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001taj.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tak.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tai.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tah.4_Frame_Shift_Del_p.V394fs	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	394					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTTCCAGTATTTACtttaattttt	0.346													-	86373324	TTTAC	-	86373320	7	5	156	1	0	1	0	1	0	0	0	0	9547	1493	52	0	256	0	MGAT4C	12	86373320	Frame_Shift_Del	DEL	TTTAC	TCGA-19-2623-01A-01D-1495-08	36453322	86373320	47478575	69	10800											
RFX4	5992	broad.mit.edu	37	12	107033171	107033172	+	Splice_Site	INS	-	-	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:107033171_107033172insT	uc001tlt.3	+	3	358	c.218_splice	c.e3+1	p.W73_splice	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Splice_Site_p.W64_splice|RFX4_uc010swv.2_Splice_Site|RFX4_uc001tls.3_Splice_Site_p.W73_splice	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	64					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTCTGCAATGGTAAGTTTCCAT	0.371													T	107033172	-	T	107033171	8	5	156	1	0	1	1	0	0	0	1	0	13265	1275	44	0	276	0	RFX4	12	107033171	Splice_Site	INS	-	TCGA-19-2623-01A-01D-1495-08	20659851	107033171	26818724	70	10801											
FLT3	2322	broad.mit.edu	37	13	28592630	28592630	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:28592630C>G	uc001urw.3	-	19	2597	c.2515G>C	c.(2515-2517)Gat>Cat	p.D839H	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	839	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.D839?(2)|p.D835_S838del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTTGGAATCACTCATGATA	0.453			"Mis, O"		"AML, ALL"								G	28592630	C	G	28592630	3	3	156	1	0	0	0	0	1	0	0	0	5942	826	29	5	486	5	FLT3	13	28592630	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		28592630	86577248	71	10802											
RB1	5925	broad.mit.edu	37	13	48955560	48955563	+	Frame_Shift_Del	DEL	AATC	AATC	-			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:48955560_48955563delAATC	uc001vcb.3	+	16	1842_1845	c.1676_1679delAATC	c.(1675-1680)gaatccfs	p.E559fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	559	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGAATCATGGAATCCCTTGCATGG	0.328		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48955563	AATC	-	48955560	7	5	156	1	0	1	0	1	0	0	0	0	13098	246	9	0	1742	0	RB1	13	48955560	Frame_Shift_Del	DEL	AATC	TCGA-19-2623-01A-01D-1495-08	20362930	48955560	66214318	72	10803											
PSMA3	5684	broad.mit.edu	37	14	58737688	58737688	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr14:58737688T>C	uc001xdj.2	+	9	811	c.695T>C	c.(694-696)aTa>aCa	p.I232T	C14orf37_uc010tro.2_Intron|PSMA3_uc001xdk.2_Missense_Mutation_p.I225T|PSMA3_uc021rtt.1_Missense_Mutation_p.I157T|C14orf37_uc001xdl.3_Intron|C14orf37_uc021rtu.1_Intron	NM_002788	NP_002779	P25788	PSA3_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 3 (PSMA3), transcript variant 1, mRNA.	232					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, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						CCAAAAGATATAAGAGAAGAA	0.368													C	58737688	T	C	58737688	3	2	156	1	0	0	0	0	1	0	0	0	12668	1406	49	4	733	4	PSMA3	14	58737688	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		58737688	48611852	73	10804											
CDCA4	55038	broad.mit.edu	37	14	105477700	105477700	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr14:105477700G>A	uc021sep.1	-	0	567	c.567C>T	c.(565-567)taC>taT	p.Y189Y	CDCA4_uc001yqa.2_Silent_p.Y189Y|CDCA4_uc001yqb.2_Silent_p.Y189Y	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	189						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGTCCAGGTCGTAGTAGGGGC	0.587													A	105477700	G	A	105477700	2	1	156	1	0	0	0	0	0	0	0	1	3088	1140	40	1		1	CDCA4	14	105477700	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	46740012	105477700	1871840	74	10805											
MKRN3	7681	broad.mit.edu	37	15	23812072	23812072	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:23812072G>A	uc001ywh.4	+	0	1619	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.E381E	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	381						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGGAGGAGGAGGAAGAGAAGC	0.507													A	23812072	G	A	23812072	2	1	156	1	0	0	0	0	0	0	0	1	9608	991	35	3		3	MKRN3	15	23812072	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08		23812072	78719320	75	10806											
FMN1	342184	broad.mit.edu	37	15	33358855	33358855	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:33358855G>A	uc001zhf.4	-	0	1231	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	FMN1_uc001zhg.2_Missense_Mutation_p.R411W	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	172	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGGGGGGCCGGATGAATAGG	0.567													A	33358855	G	A	33358855	3	1	156	1	0	0	0	0	1	0	0	0	5949	1115	39	2	2427	2	FMN1	15	33358855	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	9546783	33358855	69172537	76	10807											
GPR176	11245	broad.mit.edu	37	15	40093624	40093624	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:40093624C>T	uc001zkj.1	-	2	2123	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	GPR176_uc010uck.1_Silent_p.A359A	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	419					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGGCAGAGGGCGCAAACTGTG	0.572													T	40093624	C	T	40093624	2	4	156	1	0	0	0	0	0	0	0	1	6673	755	27	1		1	GPR176	15	40093624	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	6734769	40093624	62437768	77	10808											
PLA2G4D	283748	broad.mit.edu	37	15	42364007	42364007	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:42364007C>A	uc001zox.3	-	14	1633	c.1538G>T	c.(1537-1539)aGg>aTg	p.R513M		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	513	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	p.R513G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGGATCCTCCTCATCAGCCG	0.617													A	42364007	C	A	42364007	3	1	156	1	0	0	0	0	1	0	0	0	12004	681	24	5	942	5	PLA2G4D	15	42364007	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	2270383	42364007	60167385	78	10809											
C15orf48	84419	broad.mit.edu	37	15	45724277	45724277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:45724277C>T	uc001zvg.3	+	3	248	c.130C>T	c.(130-132)Cga>Tga	p.R44*	C15orf48_uc001zvh.3_Nonsense_Mutation_p.R44*|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	44						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TAGCCTTGATCGAAAAAAAAA	0.313													T	45724277	C	T	45724277	4	4	156	1	0	0	0	0	0	1	0	0	1799	876	31	2	140	2	C15orf48	15	45724277	Nonsense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	3360270	45724277	56807115	79	10810											
UACA	55075	broad.mit.edu	37	15	70970467	70970467	+	Missense_Mutation	SNP	C	C	T	rs145715387		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:70970467C>T	uc002asr.3	-	10	1074	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	UACA_uc010uke.2_Missense_Mutation_p.V215I|UACA_uc002asq.3_Missense_Mutation_p.V311I|UACA_uc010bin.1_Missense_Mutation_p.V310I	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	324						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AAACCATTGACTTTATCCAAA	0.284													T	70970467	C	T	70970467	3	4	156	1	0	0	0	0	1	0	0	0	16821	565	20	3	3316	3	UACA	15	70970467	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	25246190	70970467	31560925	80	10811											
MYH11	4629	broad.mit.edu	37	16	15857677	15857677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:15857677G>A	uc002ddx.3	-	10	1233	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	MYH11_uc002ddv.3_Nonsense_Mutation_p.Q376*|MYH11_uc002ddw.3_Nonsense_Mutation_p.Q369*|MYH11_uc002ddy.3_Nonsense_Mutation_p.Q369*|MYH11_uc010bvg.3_Nonsense_Mutation_p.Q201*|MYH11_uc002dea.1_Nonsense_Mutation_p.Q75*	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	369	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATGGACGCCTGGTCTGTGTTT	0.507			T	CBFB	AML								A	15857677	G	A	15857677	4	1	156	1	0	0	0	0	0	1	0	0	10031	1357	47	3	4976	3	MYH11	16	15857677	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		15857677	74497076	81	10812											
DNAH3	55567	broad.mit.edu	37	16	21145656	21145656	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:21145656C>T	uc010vbe.2	-	6	1006	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	DNAH3_uc002die.2_Missense_Mutation_p.A307T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	336	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S335S(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACTTCTTGGCGCTCCTGTAG	0.527													T	21145656	C	T	21145656	3	4	156	1	0	0	0	0	1	0	0	0	4603	768	27	1	11567	1	DNAH3	16	21145656	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	5287979	21145656	69209097	82	10813											
ITGAD	3681	broad.mit.edu	37	16	31426282	31426282	+	Silent	SNP	C	C	T	rs144306080	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:31426282C>T	uc010cap.1	+	17	2305	c.2256C>T	c.(2254-2256)gcC>gcT	p.A752A	ITGAD_uc002ebv.1_Silent_p.A751A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	751					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			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						CTGTGCTGGCCGTGGGCTCAC	0.537													T	31426282	C	T	31426282	2	4	156	1	0	0	0	0	0	0	0	1	7884	639	23	2		2	ITGAD	16	31426282	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	10280626	31426282	58928471	83	10814											
CYLD	1540	broad.mit.edu	37	16	50815179	50815179	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:50815179C>T	uc021tib.1	+	7	1664	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	CYLD_uc002ego.3_Missense_Mutation_p.T511M|CYLD_uc010cbs.1_Missense_Mutation_p.T511M|CYLD_uc002egp.1_Missense_Mutation_p.T511M|CYLD_uc002egq.1_Missense_Mutation_p.T511M|CYLD_uc002egr.1_Missense_Mutation_p.T511M|CYLD_uc002egs.1_Missense_Mutation_p.T511M	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	514	CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.T514fs*29(2)|p.T514T(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GCAGGCTGTACGGATGGAACC	0.453			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				T	50815179	C	T	50815179	3	4	156	1	0	0	0	0	1	0	0	0	4143	536	19	1	1571	1	CYLD	16	50815179	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	19388897	50815179	39539574	84	10815											
NLRP1	22861	broad.mit.edu	37	17	5463322	5463322	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:5463322G>A	uc002gci.3	-	3	1249	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	NLRP1_uc002gcg.1_Missense_Mutation_p.P232S|NLRP1_uc002gch.4_Missense_Mutation_p.P232S|NLRP1_uc002gck.3_Missense_Mutation_p.P232S|NLRP1_uc002gcj.3_Missense_Mutation_p.P232S|NLRP1_uc002gcl.3_Missense_Mutation_p.P232S|NLRP1_uc010clh.3_Missense_Mutation_p.P232S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	232					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCCATGGGGGCCTGCCTTTC	0.507													A	5463322	G	A	5463322	3	1	156	1	0	0	0	0	1	0	0	0	10471	1203	42	3	3858	3	NLRP1	17	5463322	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		5463322	75731888	85	10816											
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			T	7577548	C	T	7577548	3	4	156	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	2114226	7577548	73617662	86	10817											
MYH8	4626	broad.mit.edu	37	17	10297588	10297588	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:10297588C>T	uc002gmm.2	-	34	5239	c.5144G>A	c.(5143-5145)cGt>cAt	p.R1715H	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1715					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGCTGGACACGCTCACTGGC	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				T	10297588	C	T	10297588	3	4	156	1	0	0	0	0	1	0	0	0	10041	536	19	1	693	1	MYH8	17	10297588	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	2720040	10297588	70897622	87	10818											
CCL13	6357	broad.mit.edu	37	17	32685057	32685057	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:32685057A>C	uc002hic.3	+	2	279	c.204A>C	c.(202-204)aaA>aaC	p.K68N		NM_005408	NP_005399	Q99616	CCL13_HUMAN	Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA.	68					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				TCAGAACCAAACTGGGCAAGG	0.512													C	32685057	A	C	32685057	3	2	156	1	0	0	0	0	1	0	0	0	2884	40	2	5	214	5	CCL13	17	32685057	Missense_Mutation	SNP	A	TCGA-19-2623-01A-01D-1495-08	22387469	32685057	48510153	88	10819											
KRT25	147183	broad.mit.edu	37	17	38911514	38911514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:38911514G>A	uc002hve.3	-	0	71	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	4	Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGAAAGTCGAAGAGACATG	0.488													A	38911514	G	A	38911514	4	1	156	1	0	0	0	0	0	1	0	0	8462	1066	37	2	1374	2	KRT25	17	38911514	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	6226457	38911514	42283696	89	10820											
DHX8	1659	broad.mit.edu	37	17	41601142	41601142	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:41601142G>A	uc002idu.1	+	22	3662	c.3590G>A	c.(3589-3591)cGt>cAt	p.R1197H	DHX8_uc010wig.2_Intron	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1197						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AAGCAACAGCGTCTTGAACCC	0.517													A	41601142	G	A	41601142	3	1	156	1	0	0	0	0	1	0	0	0	4515	1145	40	1	3680	1	DHX8	17	41601142	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	2689628	41601142	39594068	90	10821											
TBX21	30009	broad.mit.edu	37	17	45822386	45822386	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:45822386G>A	uc002ilv.1	+	5	1473	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	421					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCTACTACCGAGGCCAGGAG	0.662													A	45822386	G	A	45822386	3	1	156	1	0	0	0	0	1	0	0	0	15654	1058	37	2	1284	2	TBX21	17	45822386	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	4221244	45822386	35372824	91	10822											
MC2R	4158	broad.mit.edu	37	18	13885081	13885081	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr18:13885081C>T	uc002ksp.1	-	1	614	c.437G>A	c.(436-438)cGc>cAc	p.R146H	MC2R_uc021uhs.1_Missense_Mutation_p.R146H	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	146			R -> H (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.R146H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CACCACAGTGCGGCGCATGGT	0.577													T	13885081	C	T	13885081	3	4	156	1	0	0	0	0	1	0	0	0	9364	768	27	1	460	1	MC2R	18	13885081	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		13885081	64192167	92	10823											
ATP5A1	498	broad.mit.edu	37	18	43668121	43668121	+	Silent	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr18:43668121T>C	uc002lbr.1	-	5	843	c.753A>G	c.(751-753)caA>caG	p.Q251Q	ATP5A1_uc010dnl.1_Silent_p.Q201Q|ATP5A1_uc002lbs.1_Silent_p.Q201Q|ATP5A1_uc002lbt.1_Silent_p.Q251Q	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	251					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TGGATCTCTTTTGACCAATAG	0.368													C	43668121	T	C	43668121	2	2	156	1	0	0	0	0	0	0	0	1	1147	1838	64	4		4	ATP5A1	18	43668121	Silent	SNP	T	TCGA-19-2623-01A-01D-1495-08	29783040	43668121	34409127	93	10824											
INSR	3643	broad.mit.edu	37	19	7117197	7117197	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:7117197G>A	uc002mgd.1	-	21	4128	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	INSR_uc002mge.1_Missense_Mutation_p.A1328V	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1340					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.A1340V(5)|p.A1340A(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGGCCCCCCGCCTCCTCCCT	0.592													A	7117197	G	A	7117197	3	1	156	1	0	0	0	0	1	0	0	0	7773	1087	38	1	133	1	INSR	19	7117197	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		7117197	52011786	94	10825											
FBN3	84467	broad.mit.edu	37	19	8160957	8160957	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:8160957G>A	uc002mjf.3	-	43	5564	c.5547C>T	c.(5545-5547)gaC>gaT	p.D1849D		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1849	EGF-like 29; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCACACTCGTCAATGTCTG	0.582													A	8160957	G	A	8160957	2	1	156	1	0	0	0	0	0	0	0	1	5704	1136	40	1		1	FBN3	19	8160957	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	1043760	8160957	50968026	95	10826											
OR7C1	26664	broad.mit.edu	37	19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:14910414delA	uc010xnz.2	-	0	535	c.535delT	c.(535-537)tgtfs	p.C179fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGTAGATCACAAAAAAAGTGT	0.478													-	14910414	A	-	14910414	7	5	156	1	0	1	0	1	0	0	0	0	11217	130	5	0	429	0	OR7C1	19	14910414	Frame_Shift_Del	DEL	A	TCGA-19-2623-01A-01D-1495-08	6749457	14910414	44218569	96	10827											
UPF1	5976	broad.mit.edu	37	19	18976409	18976409	+	Missense_Mutation	SNP	G	G	A	rs139317612		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:18976409G>A	uc002nkg.3	+	21	3367	c.3092G>A	c.(3091-3093)cGc>cAc	p.R1031H	UPF1_uc002nkf.3_Missense_Mutation_p.R1020H|UPF1_uc002nkh.3_Missense_Mutation_p.R275H	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	1031					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGTGGGGGACGCCAGAAGAAC	0.642													A	18976409	G	A	18976409	3	1	156	1	0	0	0	0	1	0	0	0	17000	1087	38	1	3145	1	UPF1	19	18976409	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	4065995	18976409	40152574	97	10828											
PLEKHG2	64857	broad.mit.edu	37	19	39908257	39908257	+	Silent	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:39908257T>C	uc010xuz.2	+	7	1132	c.807T>C	c.(805-807)gcT>gcC	p.A269A	PLEKHG2_uc010xuy.2_Silent_p.A210A|PLEKHG2_uc002olj.3_Silent_p.A269A|PLEKHG2_uc010xva.2_Silent_p.A76A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	269	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGAGGAAGCTATTGTGTCCA	0.647													C	39908257	T	C	39908257	2	2	156	1	0	0	0	0	0	0	0	1	12069	1509	53	4		4	PLEKHG2	19	39908257	Silent	SNP	T	TCGA-19-2623-01A-01D-1495-08	20931848	39908257	19220726	98	10829											
XRCC1	7515	broad.mit.edu	37	19	44057610	44057610	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:44057610C>T	uc002owt.2	-	5	664	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	XRCC1_uc010xwp.1_Missense_Mutation_p.A151T	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	182					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AGAGAGTTGGCGCTCTCATCC	0.577								Other BER factors					T	44057610	C	T	44057610	3	4	156	1	0	0	0	0	1	0	0	0	17449	768	27	1	1405	1	XRCC1	19	44057610	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	4149353	44057610	15071373	99	10830											
NLRP2	55655	broad.mit.edu	37	19	55501996	55501996	+	Silent	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:55501996G>C	uc021vbq.1	+	9	2775	c.2664G>C	c.(2662-2664)ctG>ctC	p.L888L	NLRP2_uc010yfp.2_Silent_p.L865L|NLRP2_uc002qij.3_Silent_p.L888L|NLRP2_uc010esp.3_Silent_p.L866L|NLRP2_uc010esn.3_Silent_p.L864L|NLRP2_uc010eso.3_Silent_p.L885L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	888					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGAAGTTTCTGTGTGAGGGCT	0.567													C	55501996	G	C	55501996	2	2	156	1	0	0	0	0	0	0	0	1	10477	1364	48	5		5	NLRP2	19	55501996	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	11444386	55501996	3626987	100	10831											
NLRP5	126206	broad.mit.edu	37	19	56539073	56539073	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:56539073G>A	uc002qmj.3	+	6	1474	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	NLRP5_uc002qmi.3_Missense_Mutation_p.A473T	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	492	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGAGCGTCGCCCCCTTCAA	0.637													A	56539073	G	A	56539073	3	1	156	1	0	0	0	0	1	0	0	0	10480	1087	38	1	1500	1	NLRP5	19	56539073	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	1037077	56539073	2589910	101	10832											
VPS16	64601	broad.mit.edu	37	20	2843940	2843940	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:2843940G>A	uc002whe.3	+	14	1420	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Missense_Mutation_p.V314M|VPS16_uc002whg.3_Missense_Mutation_p.V144M	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	458					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TACCAGGCTCGTGTTGCGGAG	0.592													A	2843940	G	A	2843940	3	1	156	1	0	0	0	0	1	0	0	0	17190	1145	40	1	1430	1	VPS16	20	2843940	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		2843940	60181580	102	10833											
SMOX	54498	broad.mit.edu	37	20	4162543	4162543	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:4162543C>T	uc002wkp.2	+	3	730	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	SMOX_uc010zqo.1_Missense_Mutation_p.R154C|SMOX_uc002wkk.1_Missense_Mutation_p.R177C|SMOX_uc002wkl.1_Missense_Mutation_p.R177C|SMOX_uc002wkm.1_Missense_Mutation_p.R177C|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.R177C	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	177					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGGTGCGTAACCGCAT	0.537													T	4162543	C	T	4162543	3	4	156	1	0	0	0	0	1	0	0	0	14803	768	27	1	539	1	SMOX	20	4162543	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1318603	4162543	58862977	103	10834											
ZNF831	128611	broad.mit.edu	37	20	57767832	57767832	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:57767832C>T	uc002yan.3	+	0	1758	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	586						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)					AGGACACAGACGCAAAGAGAA	0.672													T	57767832	C	T	57767832	2	4	156	1	0	0	0	0	0	0	0	1	18182	535	19	1		1	ZNF831	20	57767832	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	53605289	57767832	5257688	104	10835											
SAMSN1	64092	broad.mit.edu	37	21	15889263	15889263	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr21:15889263T>C	uc002yju.1	-	2	311	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.M145V	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	77					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTTTCTTCATTGTCCATGAA	0.338													C	15889263	T	C	15889263	3	2	156	1	0	0	0	0	1	0	0	0	13830	1493	52	4	916	4	SAMSN1	21	15889263	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		15889263	32240632	105	10836											
PCYT1B	9468	broad.mit.edu	37	X	24580418	24580418	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:24580418C>G	uc004dbi.3	-	7	1335	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q	PCYT1B_uc004dbk.4_Intron|PCYT1B_uc004dbj.3_Missense_Mutation_p.E350Q	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	368						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.E368G(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTCTACTTTTCATCCTCATCC	0.577													G	24580418	C	G	24580418	3	3	156	1	0	0	0	0	1	0	0	0	11611	835	29	5	48	5	PCYT1B	23	24580418	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		24580418	130690142	106	10837											
DMD	1756	broad.mit.edu	37	X	32563337	32563337	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:32563337G>T	uc004dda.1	-	16	2351	c.2107C>A	c.(2107-2109)Ctt>Att	p.L703I	DMD_uc004dcz.2_Missense_Mutation_p.L580I|DMD_uc004dcy.1_Missense_Mutation_p.L699I|DMD_uc004ddb.1_Missense_Mutation_p.L695I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.L695I	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	703					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			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)				GGTGGTGGAAGTTCCTCTTGA	0.448													T	32563337	G	T	32563337	3	4	156	1	0	0	0	0	1	0	0	0	4580	1029	36	5	9445	5	DMD	23	32563337	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	7982919	32563337	122707223	107	10838											
CXorf22	170063	broad.mit.edu	37	X	35989828	35989828	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:35989828C>T	uc004ddj.3	+	11	2162	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	699										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCAATTAGAGCGAATCGATTG	0.448													T	35989828	C	T	35989828	3	4	156	1	0	0	0	0	1	0	0	0	4102	768	27	1	2142	1	CXorf22	23	35989828	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	3426491	35989828	119280732	108	10839											
THOC2	57187	broad.mit.edu	37	X	122799597	122799597	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:122799597T>C	uc004etu.3	-	11	1314	c.1282A>G	c.(1282-1284)Agg>Ggg	p.R428G	THOC2_uc011muh.1_Missense_Mutation_p.R349G|THOC2_uc011mui.1_Missense_Mutation_p.R313G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	428					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACGTCTCTCCTCAAATCTTCA	0.403													C	122799597	T	C	122799597	3	2	156	1	0	0	0	0	1	0	0	0	15862	1550	54	4	3607	4	THOC2	23	122799597	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	86809769	122799597	32470963	109	10840											
CDK11B	728642	broad.mit.edu	37	1	1636296	1636296	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:1636296C>T	uc010nyt.1	-	12	1613	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Intron|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Intron|CDK11B_uc009vks.3_Intron|CDK11B_uc010nys.2_Intron			P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.	0	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			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GGGGCCCTGTCGGAAAAGCCT	0.607													T	1636296	C	T	1636296	3	4	157	1	0	0	0	0	1	0	0	0	3127	899	31	2		2	CDK11B	1	1636296	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		1636296	247614325	1	10841											
HES5	388585	broad.mit.edu	37	1	2461382	2461382	+	Silent	SNP	C	C	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:2461382C>G	uc001ajn.3	-	1	204	c.123G>C	c.(121-123)ctG>ctC	p.L41L		NM_001010926	NP_001010926	Q5TA89	HES5_HUMAN	Homo sapiens hairy and enhancer of split 5 (Drosophila) (HES5), mRNA.	41	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus				lung(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;4.41e-16)|all_lung(118;6.66e-07)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;2.59e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCTCCAGCAGCAGCTTCAGCT	0.647													G	2461382	C	G	2461382	2	3	157	1	0	0	0	0	0	0	0	1	7069	697	25	5		5	HES5	1	2461382	Silent	SNP	C	TCGA-19-2624-01A-01D-1495-08	825086	2461382	246789239	2	10842											
PTPRF	5792	broad.mit.edu	37	1	44085120	44085120	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:44085120C>A	uc001cjr.3	+	27	5148	c.4808C>A	c.(4807-4809)gCg>gAg	p.A1603E	PTPRF_uc001cjs.3_Missense_Mutation_p.A1594E|PTPRF_uc001cju.3_Missense_Mutation_p.A992E|PTPRF_uc009vwt.3_Missense_Mutation_p.A1163E|PTPRF_uc001cjv.3_Missense_Mutation_p.A1074E|PTPRF_uc001cjw.3_Missense_Mutation_p.A829E	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1603	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCATGAGGCGCTGCTGGAG	0.607													A	44085120	C	A	44085120	3	1	157	1	0	0	0	0	1	0	0	0	12801	768	27	5	4910	5	PTPRF	1	44085120	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	41623738	44085120	205165501	3	10843											
KANK4	163782	broad.mit.edu	37	1	62728946	62728946	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:62728946C>T	uc001dah.4	-	6	2734	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	KANK4_uc001dai.4_Missense_Mutation_p.R158H|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Missense_Mutation_p.R142H	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	786				R -> H (in Ref. 1; BAC03774).						NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGAGACGCGGAACCACTC	0.562													T	62728946	C	T	62728946	3	4	157	1	0	0	0	0	1	0	0	0	7979	768	27	1	646	1	KANK4	1	62728946	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	18643826	62728946	186521675	4	10844											
CSDE1	7812	broad.mit.edu	37	1	115272925	115272925	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:115272925G>C	uc001efi.3	-	12	1970	c.1448C>G	c.(1447-1449)aCt>aGt	p.T483S	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.T437S|CSDE1_uc001efm.3_Missense_Mutation_p.T452S|CSDE1_uc009wgv.3_Missense_Mutation_p.T437S|CSDE1_uc001efl.3_Missense_Mutation_p.T406S|CSDE1_uc001efn.3_Missense_Mutation_p.T406S	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	437	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGGAAAAAGTGGCTTCTTT	0.378													C	115272925	G	C	115272925	3	2	157	1	0	0	0	0	1	0	0	0	3929	1029	36	5	1122	5	CSDE1	1	115272925	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	52543979	115272925	133977696	5	10845											
F11R	50848	broad.mit.edu	37	1	160970003	160970003	+	Missense_Mutation	SNP	G	G	A	rs144844671	by1000genomes	TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:160970003G>A	uc009wtt.3	-	4	794	c.524C>T	c.(523-525)aCg>aTg	p.T175M	F11R_uc010pjv.2_Missense_Mutation_p.T126M|F11R_uc010pjw.2_Missense_Mutation_p.T179M|F11R_uc001fxf.4_Missense_Mutation_p.T175M	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	175	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TTTGGGATTCGTAGGCATCAC	0.517													A	160970003	G	A	160970003	3	1	157	1	0	0	0	0	1	0	0	0	5338	1145	40	1	399	1	F11R	1	160970003	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	45697078	160970003	88280618	6	10846											
LAMC1	3915	broad.mit.edu	37	1	183101569	183101569	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:183101569G>A	uc001gpy.4	+	20	3858	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1201	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTCGAGTGGCAAAGACAGC	0.388													A	183101569	G	A	183101569	3	1	157	1	0	0	0	0	1	0	0	0	8614	1203	42	3	3683	3	LAMC1	1	183101569	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	22131566	183101569	66149052	7	10847											
ZC3H11A	9877	broad.mit.edu	37	1	203818961	203818961	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:203818961G>A	uc001hac.3	+	16	2362	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	ZC3H11A_uc001had.3_Silent_p.R582R|ZC3H11A_uc001hae.3_Silent_p.R582R|ZC3H11A_uc001haf.3_Silent_p.R582R|ZC3H11A_uc010pqm.2_Silent_p.R528R|ZC3H11A_uc001hag.1_Silent_p.R582R	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	582							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCTCTTCGGGGAGATGTAG	0.493													A	203818961	G	A	203818961	2	1	157	1	0	0	0	0	0	0	0	1	17557	1219	43	3		3	ZC3H11A	1	203818961	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	20717392	203818961	45431660	8	10848											
CEP170	9859	broad.mit.edu	37	1	243362438	243362438	+	Silent	SNP	A	A	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:243362438A>G	uc021plo.1	-	6	963	c.555T>C	c.(553-555)gaT>gaC	p.D185D	CEP170_uc021plp.1_Silent_p.D185D|CEP170_uc021plq.1_Silent_p.D185D	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	185						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCACCTCATCATCCCCCCACC	0.428													G	243362438	A	G	243362438	2	3	157	1	0	0	0	0	0	0	0	1	3250	214	8	4		4	CEP170	1	243362438	Silent	SNP	A	TCGA-19-2624-01A-01D-1495-08	39543477	243362438	5888183	9	10849											
TTN	7273	broad.mit.edu	37	2	179442793	179442793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:179442793G>A	uc021vsy.1	-	270	60970	c.60745C>T	c.(60745-60747)Cga>Tga	p.R20249*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R13944*|TTN_uc021vta.1_Nonsense_Mutation_p.R13877*|TTN_uc021vtb.1_Nonsense_Mutation_p.R13752*|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21176	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R13944*(1)|p.R20247*(1)|p.R20249*(1)|p.R13752*(1)|p.R13877*(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)			GCCATAACTCGGAATTCATAT	0.423													A	179442793	G	A	179442793	4	1	157	1	0	0	0	0	0	1	0	0	16732	1124	39	2	39694	2	TTN	2	179442793	Nonsense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		179442793	63756580	10	10850											
KCTD18	130535	broad.mit.edu	37	2	201371625	201371625	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:201371625C>A	uc002uvs.3	-	1	632	c.115G>T	c.(115-117)Gca>Tca	p.A39S	KCTD18_uc002uvt.3_Missense_Mutation_p.A39S|KCTD18_uc002uvu.1_Missense_Mutation_p.A39S	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	39	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AACATAGATGCCAACATGGAG	0.458													A	201371625	C	A	201371625	3	1	157	1	0	0	0	0	1	0	0	0	8105	739	26	5	1189	5	KCTD18	2	201371625	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	21928832	201371625	41827748	11	10851											
PARD3B	117583	broad.mit.edu	37	2	205986432	205986432	+	Silent	SNP	T	T	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:205986432T>C	uc002var.2	+	7	1131	c.924T>C	c.(922-924)ggT>ggC	p.G308G	PARD3B_uc010fub.2_Silent_p.G308G|PARD3B_uc002vao.2_Silent_p.G308G|PARD3B_uc002vap.2_Silent_p.G308G|PARD3B_uc002vaq.2_Silent_p.G308G	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	308					cell cycle|cell division	endomembrane system|tight junction				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)		ACATTTTTGGTAATAATGATG	0.453													C	205986432	T	C	205986432	2	2	157	1	0	0	0	0	0	0	0	1	11444	1625	57	4		4	PARD3B	2	205986432	Silent	SNP	T	TCGA-19-2624-01A-01D-1495-08	4614807	205986432	37212941	12	10852											
ALPP	250	broad.mit.edu	37	2	233244353	233244353	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:233244353G>A	uc002vsq.3	+	3	605	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	147						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AACACGACACGCGGCAACGAG	0.607													A	233244353	G	A	233244353	3	1	157	1	0	0	0	0	1	0	0	0	548	1087	38	1	454	1	ALPP	2	233244353	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	27257921	233244353	9955020	13	10853											
HES1	3280	broad.mit.edu	37	3	193855643	193855643	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr3:193855643A>C	uc003ftq.2	+	3	703	c.464A>C	c.(463-465)tAc>tCc	p.Y155S		NM_005524	NP_005515	Q14469	HES1_HUMAN	Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA.	155					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GCCATGACCTACCCCGGGCAG	0.731													C	193855643	A	C	193855643	3	2	157	1	0	0	0	0	1	0	0	0	7065	391	14	5	478	5	HES1	3	193855643	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		193855643	4166787	14	10854											
PLCXD3	345557	broad.mit.edu	37	5	41313846	41313846	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:41313846A>T	uc003jmm.1	-	2	941	c.839T>A	c.(838-840)gTc>gAc	p.V280D		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	280					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGCGTGCGGACCCACTGCAT	0.433													T	41313846	A	T	41313846	3	4	157	1	0	0	0	0	1	0	0	0	12043	275	10	5	130	5	PLCXD3	5	41313846	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		41313846	139601414	15	10855											
NMUR2	56923	broad.mit.edu	37	5	151784217	151784217	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:151784217C>T	uc003luv.2	-	0	624	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	153					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGTTTGGCGCGGAACGGGTG	0.637													T	151784217	C	T	151784217	3	4	157	1	0	0	0	0	1	0	0	0	10507	768	27	1	805	1	NMUR2	5	151784217	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	110470371	151784217	29131043	16	10856											
DOCK2	1794	broad.mit.edu	37	5	169508958	169508958	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:169508958G>A	uc003maf.3	+	50	5480	c.5400G>A	c.(5398-5400)cgG>cgA	p.R1800R	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.R1292R|DOCK2_uc003mah.3_Silent_p.R356R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1800					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			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)			CACTCACACGGAAGAAGGTCA	0.527													A	169508958	G	A	169508958	2	1	157	1	0	0	0	0	0	0	0	1	4687	1161	41	3		3	DOCK2	5	169508958	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	17724741	169508958	11406302	17	10857											
C6orf195	154386	broad.mit.edu	37	6	2623743	2623743	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:2623743G>C	uc003mtw.2	-	2	1299	c.314C>G	c.(313-315)gCc>gGc	p.A105G	C6orf195_uc021ykp.1_Missense_Mutation_p.A105G	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	105										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GCAGGGAGTGGCCTGGTCACT	0.547													C	2623743	G	C	2623743	3	2	157	1	0	0	0	0	1	0	0	0	2350	1203	42	5	73	5	C6orf195	6	2623743	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		2623743	168491324	18	10858											
LRRC1	55227	broad.mit.edu	37	6	53784332	53784332	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:53784332G>C	uc003pcd.1	+	11	1664	c.1143G>C	c.(1141-1143)aaG>aaC	p.K381N		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	381						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGCCTTGAAGTTGAAGGCTC	0.398													C	53784332	G	C	53784332	3	2	157	1	0	0	0	0	1	0	0	0	8966	1020	36	5	1189	5	LRRC1	6	53784332	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	51160589	53784332	117330735	19	10859											
AKD1	221264	broad.mit.edu	37	6	109993332	109993332	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:109993332C>T	uc003ptn.2	-	3	297	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	AKD1_uc003ptr.4_Missense_Mutation_p.E74K|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	74					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						ACTCCTGATTCGGTTTCAGCA	0.279													T	109993332	C	T	109993332	3	4	157	1	0	0	0	0	1	0	0	0	460	893	31	2	5679	2	AKD1	6	109993332	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	56209000	109993332	61121735	20	10860											
VNN1	8876	broad.mit.edu	37	6	133005540	133005540	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:133005540G>A	uc003qdo.3	-	5	1313	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	VNN1_uc003qdn.3_Non-coding_Transcript	NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	431					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTGGGTTCCGAAAGTGCCAC	0.418													A	133005540	G	A	133005540	2	1	157	1	0	0	0	0	0	0	0	1	17179	1049	37	2		2	VNN1	6	133005540	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	23012208	133005540	38109527	21	10861											
EGFR	1956	broad.mit.edu	37	7	55210077	55210078	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:55210077_55210078GG>AA	uc003tqk.3	+	1	433_434	c.187_188GG>AA	c.(187-189)ggg>AAg	p.G63K	EGFR_uc003tqh.3_Missense_Mutation_p.G63K|EGFR_uc003tqi.3_Missense_Mutation_p.G63K|EGFR_uc003tqj.3_Missense_Mutation_p.G63K|EGFR_uc022adm.1_Missense_Mutation_p.G63K|EGFR_uc010kzg.2_Missense_Mutation_p.G63K|EGFR_uc022adn.1_Missense_Mutation_p.G63K|EGFR_uc011kco.2_Missense_Mutation_p.G10K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	63					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.G63R(2)|p.L62R(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGGTCCTTGGGAATTTGGAA	0.396		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			AA	55210078	GG	AA	55210077	3	1	157	1	0	0	0	0	1	0	0	0	4967	1348	47	3	193	3	EGFR	7	55210077	Missense_Mutation	DNP	GG	TCGA-19-2624-01A-01D-1495-08		55210077	103928586	22	10862											
STEAP1	26872	broad.mit.edu	37	7	89794038	89794038	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:89794038C>A	uc003ujx.3	+	4	1210	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	STEAP2_uc003ujy.2_5'Flank	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	337					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GAGATATGTTCCCAGTTGTAG	0.299													A	89794038	C	A	89794038	3	1	157	1	0	0	0	0	1	0	0	0	15276	855	30	5	1024	5	STEAP1	7	89794038	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	34583961	89794038	69344625	23	10863											
LHFPL3	375612	broad.mit.edu	37	7	104377161	104377161	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:104377161G>C	uc003vce.3	+	1	609	c.485G>C	c.(484-486)gGc>gCc	p.G162A	LHFPL3_uc003vcf.3_Missense_Mutation_p.G162A	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.	148						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TTCCCTGATGGCTGGGACTCA	0.418													C	104377161	G	C	104377161	3	2	157	1	0	0	0	0	1	0	0	0	8766	1203	42	5	491	5	LHFPL3	7	104377161	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	14583123	104377161	54761502	24	10864											
DAB2IP	153090	broad.mit.edu	37	9	124538504	124538504	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr9:124538504C>T	uc004bln.3	+	13	3133	c.3064C>T	c.(3064-3066)Cga>Tga	p.R1022*	DAB2IP_uc004blo.3_Nonsense_Mutation_p.R926*|DAB2IP_uc004blp.3_Nonsense_Mutation_p.R455*	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	1050					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGACAAGCTGCGAATCTCCAC	0.622													T	124538504	C	T	124538504	4	4	157	1	0	0	0	0	0	1	0	0	4219	760	27	1	3118	1	DAB2IP	9	124538504	Nonsense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		124538504	16674927	25	10865											
ALDH18A1	5832	broad.mit.edu	37	10	97396856	97396856	+	Silent	SNP	A	A	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr10:97396856A>T	uc001kkz.3	-	4	794	c.552T>A	c.(550-552)gcT>gcA	p.A184A	ALDH18A1_uc001kky.3_Silent_p.A184A|ALDH18A1_uc010qog.2_Silent_p.A73A|ALDH18A1_uc010qoh.2_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	184	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TCACCTGGGCAGCACAGATGC	0.547													T	97396856	A	T	97396856	2	4	157	1	0	0	0	0	0	0	0	1	489	175	7	5		5	ALDH18A1	10	97396856	Silent	SNP	A	TCGA-19-2624-01A-01D-1495-08		97396856	38137891	26	10866											
ADAM8	101	broad.mit.edu	37	10	135084467	135084467	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr10:135084467G>A	uc021qbe.1	-	13	1568	c.1482C>T	c.(1480-1482)aaC>aaT	p.N494N	ADAM8_uc009ybi.3_Silent_p.N494N|ADAM8_uc010qva.2_Silent_p.N455N	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	455					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGGGCGTGCCGTTCTCCTGGA	0.667													A	135084467	G	A	135084467	2	1	157	1	0	0	0	0	0	0	0	1	252	1136	40	1		1	ADAM8	10	135084467	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	37687611	135084467	450280	27	10867											
C11orf35	256329	broad.mit.edu	37	11	558885	558885	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:558885G>A	uc001lpx.3	-	1	192	c.129C>T	c.(127-129)ccC>ccT	p.P43P	AX748330_uc001lpy.3_Non-coding_Transcript|BC031953_uc001lpz.3_5'Flank|RASSF7_uc001lqb.3_5'Flank|RASSF7_uc001lqc.3_5'Flank|RASSF7_uc001lqd.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	43										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACCGGTGCGGGGTGGGGCG	0.692													A	558885	G	A	558885	2	1	157	1	0	0	0	0	0	0	0	1	1638	1103	39	2		2	C11orf35	11	558885	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08		558885	134447631	28	10868											
OR51E2	81285	broad.mit.edu	37	11	4703127	4703127	+	Missense_Mutation	SNP	C	C	T	rs138231892		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:4703127C>T	uc001lzk.2	-	1	1059	c.815G>A	c.(814-816)cGt>cAt	p.R272H	OR51E2_uc021qcr.1_Missense_Mutation_p.R272H	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATGACAACACGCACAATGGG	0.507													T	4703127	C	T	4703127	3	4	157	1	0	0	0	0	1	0	0	0	11095	536	19	1	151	1	OR51E2	11	4703127	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	4144242	4703127	130303389	29	10869											
OR52N4	390072	broad.mit.edu	37	11	5776764	5776764	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:5776764G>A	uc001mbu.3	+	0	842	c.794G>A	c.(793-795)cGc>cAc	p.R265H	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTTTCCCACCGCTTTGGGGAA	0.468													A	5776764	G	A	5776764	3	1	157	1	0	0	0	0	1	0	0	0	11129	1087	38	1	796	1	OR52N4	11	5776764	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	1073637	5776764	129229752	30	10870											
OR8I2	120586	broad.mit.edu	37	11	55861299	55861299	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:55861299C>A	uc010rix.2	+	0	516	c.516C>A	c.(514-516)agC>agA	p.S172R		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGATTCCAGCATCAATCATT	0.448													A	55861299	C	A	55861299	3	1	157	1	0	0	0	0	1	0	0	0	11240	709	25	5	518	5	OR8I2	11	55861299	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	50084535	55861299	79145217	31	10871											
TBC1D10C	374403	broad.mit.edu	37	11	67177159	67177159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:67177159delC	uc001ola.3	+	9	1304	c.1275delC	c.(1273-1275)ggcfs	p.G425fs	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	425	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGCCCGGGGCCCCCCCATCG	0.682													-	67177159	C	-	67177159	7	5	157	1	0	1	0	1	0	0	0	0	15597	726	26	0	1309	0	TBC1D10C	11	67177159	Frame_Shift_Del	DEL	C	TCGA-19-2624-01A-01D-1495-08	11315860	67177159	67829357	32	10872											
ST14	6768	broad.mit.edu	37	11	130069857	130069857	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:130069857C>T	uc001qfw.3	+	15	2012	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	607					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTGTGGGCTGCGGTCATTCAC	0.612													T	130069857	C	T	130069857	3	4	157	1	0	0	0	0	1	0	0	0	15210	759	27	1	1881	1	ST14	11	130069857	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	62892698	130069857	4936659	33	10873											
FOXJ2	55810	broad.mit.edu	37	12	8201337	8201337	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:8201337A>G	uc001qtu.3	+	7	2355	c.1270A>G	c.(1270-1272)Agc>Ggc	p.S424G	FOXJ2_uc001qtt.1_Missense_Mutation_p.S424G	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	424					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTTAAAGGAAAGCTTCAAGAT	0.428													G	8201337	A	G	8201337	3	3	157	1	0	0	0	0	1	0	0	0	6012	72	3	4	1296	4	FOXJ2	12	8201337	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		8201337	125650558	34	10874											
CACNB3	784	broad.mit.edu	37	12	49217552	49217552	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:49217552A>G	uc001rsl.2	+	2	716	c.257A>G	c.(256-258)aAc>aGc	p.N86S	CACNB3_uc010slx.2_Missense_Mutation_p.N73S|CACNB3_uc010sly.2_Missense_Mutation_p.N73S|CACNB3_uc010slz.2_Missense_Mutation_p.N85S|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Intron	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	86	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	TCTGGAGTCAACTTTGAGGCC	0.493													G	49217552	A	G	49217552	3	3	157	1	0	0	0	0	1	0	0	0	2554	43	2	4	267	4	CACNB3	12	49217552	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08	41016215	49217552	84634343	35	10875											
ESPL1	9700	broad.mit.edu	37	12	53662942	53662942	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:53662942G>A	uc001sck.2	+	2	307	c.216G>A	c.(214-216)ggG>ggA	p.G72G	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	72					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCATCTGGGGAGCCTGCTGG	0.567													A	53662942	G	A	53662942	2	1	157	1	0	0	0	0	0	0	0	1	5253	1161	41	3		3	ESPL1	12	53662942	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	4445390	53662942	80188953	36	10876											
NEDD1	121441	broad.mit.edu	37	12	97345747	97345747	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:97345747G>A	uc001tew.3	+	14	2066	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L	NEDD1_uc001teu.4_Silent_p.L633L|NEDD1_uc001tev.4_Silent_p.L633L|NEDD1_uc010svc.2_Silent_p.L544L|NEDD1_uc001tex.3_Silent_p.L544L	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	633					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTCTTTGCTGGAAAGATACT	0.323													A	97345747	G	A	97345747	2	1	157	1	0	0	0	0	0	0	0	1	10309	1335	47	3		3	NEDD1	12	97345747	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	43682805	97345747	36506148	37	10877											
ATXN2	6311	broad.mit.edu	37	12	111895056	111895056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:111895056G>A	uc001tsj.3	-	21	3640	c.3478C>T	c.(3478-3480)Caa>Taa	p.Q1160*	ATXN2_uc001tsh.3_Nonsense_Mutation_p.Q895*|ATXN2_uc001tsi.3_Nonsense_Mutation_p.Q853*|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Nonsense_Mutation_p.Q161*	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1160					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCACCATGTTGGCTTTGCTGC	0.552													A	111895056	G	A	111895056	4	1	157	1	0	0	0	0	0	1	0	0	1211	1357	47	3	479	3	ATXN2	12	111895056	Nonsense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	14549309	111895056	21956839	38	10878											
FZD10	11211	broad.mit.edu	37	12	130648665	130648665	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:130648665C>T	uc001uii.3	+	0	1662	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	393					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A393S(1)|p.N392K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GACGTCAACGCGCTCACCGGC	0.657													T	130648665	C	T	130648665	3	4	157	1	0	0	0	0	1	0	0	0	6129	768	27	1	1180	1	FZD10	12	130648665	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	18753609	130648665	3203230	39	10879											
CYP46A1	10858	broad.mit.edu	37	14	100166408	100166408	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:100166408G>A	uc001ygo.3	+	4	413	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	CYP46A1_uc001ygn.1_Missense_Mutation_p.R100Q	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	138					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	p.Q137Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CACAAGCAGCGGAGAGTCATA	0.627													A	100166408	G	A	100166408	3	1	157	1	0	0	0	0	1	0	0	0	4182	1116	39	2	431	2	CYP46A1	14	100166408	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		100166408	7183132	40	10880											
AHNAK2	113146	broad.mit.edu	37	14	105410901	105410901	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:105410901C>A	uc010axc.1	-	6	11007	c.10887G>T	c.(10885-10887)aaG>aaT	p.K3629N	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.K3529N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3629						nucleus				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)			CAGTCACGTCCTTGTCAGCCA	0.597													A	105410901	C	A	105410901	3	1	157	1	0	0	0	0	1	0	0	0	415	680	24	5	6504	5	AHNAK2	14	105410901	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	5244493	105410901	1938639	41	10881											
AHNAK2	113146	broad.mit.edu	37	14	105418389	105418389	+	Silent	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:105418389G>A	uc010axc.1	-	6	3519	c.3399C>T	c.(3397-3399)gtC>gtT	p.V1133V	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V1033V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1133						nucleus				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)			CCGGGGCCTCGACGTCCACCT	0.632													A	105418389	G	A	105418389	2	1	157	1	0	0	0	0	0	0	0	1	415	1045	37	2		2	AHNAK2	14	105418389	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	7488	105418389	1931151	42	10882											
OR4N4	283694	broad.mit.edu	37	15	22332433	22332433	+	Translation_Start_Site	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:22332433G>A	uc001yuc.1	+	2					abParts_uc001yuj.2_Intron|OR4N4_uc001ytz.1_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGATTCTAACGTGACAGAACT	0.343													A	22332433	G	A	22332433	1	1	157	1	0	0	0	0	0	0	0	0	11078	1160	40	1		1	OR4N4	15	22332433	Translation_Start_Site	SNP	G	TCGA-19-2624-01A-01D-1495-08		22332433	80198959	43	10883											
DUOX2	50506	broad.mit.edu	37	15	45393418	45393418	+	Missense_Mutation	SNP	C	C	T	rs146664125	byFrequency	TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:45393418C>T	uc001zun.3	-	21	3109	c.2906G>A	c.(2905-2907)cGg>cAg	p.R969Q	DUOX2_uc010bea.3_Missense_Mutation_p.R969Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	969	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCCAGGTGTCCGAGTGATGAA	0.547													T	45393418	C	T	45393418	3	4	157	1	0	0	0	0	1	0	0	0	4801	652	23	2	1792	2	DUOX2	15	45393418	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	23060985	45393418	57137974	44	10884											
CCPG1	9236	broad.mit.edu	37	15	55652558	55652559	+	Frame_Shift_Ins	INS	-	-	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:55652558_55652559insC	uc010bfk.2	-	7	1711_1712	c.1412_1413insG	c.(1411-1413)ggcfs	p.G471fs	CCPG1_uc002acy.3_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acu.2_Frame_Shift_Ins_p.G327fs|CCPG1_uc002acz.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acw.2_Frame_Shift_Ins_p.G196fs|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc021smu.1_Frame_Shift_Ins_p.G91fs	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	471					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GGCTTCCTCTGCCCCCTTTCTT	0.391													C	55652559	-	C	55652558	7	5	157	1	0	1	1	0	0	0	0	0	2938	1306	46	0	864	0	CCPG1	15	55652558	Frame_Shift_Ins	INS	-	TCGA-19-2624-01A-01D-1495-08	10259140	55652558	46878834	45	10885											
GFOD2	81577	broad.mit.edu	37	16	67709764	67709764	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr16:67709764C>T	uc002eub.3	-	2	747	c.452G>A	c.(451-453)cGc>cAc	p.R151H	GFOD2_uc002euc.3_Missense_Mutation_p.R46H|GFOD2_uc002eua.1_Non-coding_Transcript	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.	151						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGAGTAGATGCGGGCATCACA	0.592													T	67709764	C	T	67709764	3	4	157	1	0	0	0	0	1	0	0	0	6344	768	27	1	709	1	GFOD2	16	67709764	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		67709764	22644989	46	10886											
CBFA2T3	863	broad.mit.edu	37	16	88945788	88945788	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr16:88945788C>T	uc002fmm.2	-	10	1841	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	CBFA2T3_uc002fml.2_Missense_Mutation_p.E432K|CBFA2T3_uc002fmk.2_Missense_Mutation_p.E17K	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	518			E -> K (in a colorectal cancer sample; somatic mutation).		cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E518K(2)|p.H517H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTGATGAGCTCGTGCGCTTTG	0.657			T	RUNX1	AML								T	88945788	C	T	88945788	3	4	157	1	0	0	0	0	1	0	0	0	2698	893	31	2	417	2	CBFA2T3	16	88945788	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	21236024	88945788	1408965	47	10887											
GPR179	440435	broad.mit.edu	37	17	36499303	36499303	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr17:36499303C>G	uc002hpz.3	-	0	391	c.370G>C	c.(370-372)Gag>Cag	p.E124Q		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	124						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACATCCTCCTCCACACTGGAC	0.627													G	36499303	C	G	36499303	3	3	157	1	0	0	0	0	1	0	0	0	6674	864	30	5	6777	5	GPR179	17	36499303	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		36499303	44695907	48	10888											
MIER2	54531	broad.mit.edu	37	19	307371	307371	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:307371T>C	uc002lok.1	-	12	1373	c.1364A>G	c.(1363-1365)tAc>tGc	p.Y455C		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		AGCTGGCTGGTATGAGGCTGG	0.687													C	307371	T	C	307371	3	2	157	1	0	0	0	0	1	0	0	0	9581	1638	57	4	281	4	MIER2	19	307371	Missense_Mutation	SNP	T	TCGA-19-2624-01A-01D-1495-08		307371	58821612	49	10889											
CHAF1A	10036	broad.mit.edu	37	19	4409704	4409704	+	Missense_Mutation	SNP	C	C	A	rs150305585		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:4409704C>A	uc002mal.3	+	2	1008	c.908C>A	c.(907-909)cCa>cAa	p.P303Q		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	303	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCTCCCCCAAAGCAGCAC	0.612								Chromatin Structure					A	4409704	C	A	4409704	3	1	157	1	0	0	0	0	1	0	0	0	3311	594	21	5	918	5	CHAF1A	19	4409704	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	4102333	4409704	54719279	50	10890											
PLEKHG2	64857	broad.mit.edu	37	19	39913972	39913972	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:39913972G>A	uc010xuz.2	+	17	2603	c.2278G>A	c.(2278-2280)Gca>Aca	p.A760T	PLEKHG2_uc010xuy.2_Missense_Mutation_p.A701T|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.A538T	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	760					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			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGATGAGCTGGCATTCCGCTC	0.597													A	39913972	G	A	39913972	3	1	157	1	0	0	0	0	1	0	0	0	12069	1203	42	3	2344	3	PLEKHG2	19	39913972	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	35504268	39913972	19215011	51	10891											
TGM3	7053	broad.mit.edu	37	20	2320632	2320632	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr20:2320632G>A	uc002wfx.4	+	12	2031	c.1934_splice	c.e12+1	p.D645_splice		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	645					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCTGAAGATCGAGTGAGTCCT	0.642													A	2320632	G	A	2320632	3	1	157	1	0	0	0	0	1	0	0	0	15828	1072	37	2	1979	2	TGM3	20	2320632	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		2320632	60704888	52	10892											
SEMG2	6406	broad.mit.edu	37	20	43836470	43836470	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr20:43836470G>A	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.V178I|SEMG2_uc002xnj.2_Missense_Mutation_p.V178I	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACAAACTTCCGTCTCTGGTGC	0.423													A	43836470	G	A	43836470	3	1	157	1	0	0	0	0	1	0	0	0	14045	1145	40	1		1	SEMG2	20	43836470	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	41515838	43836470	19189050	53	10893											
KRTAP6-1	337966	broad.mit.edu	37	21	31986055	31986055	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr21:31986055A>T	uc002yop.3	-	0	169	c.169T>A	c.(169-171)Tgt>Agt	p.C57S	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	57						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						CCATAGCCACAGAGGGAGCGG	0.567													T	31986055	A	T	31986055	3	4	157	1	0	0	0	0	1	0	0	0	8569	188	7	5	50	5	KRTAP6-1	21	31986055	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		31986055	16143840	54	10894											
MYH9	4627	broad.mit.edu	37	22	36689392	36689392	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr22:36689392C>T	uc003apg.3	-	29	4309	c.4078G>A	c.(4078-4080)Gcc>Acc	p.A1360T		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1360					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGAGGGTGGCGATCTGCTTC	0.662			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				T	36689392	C	T	36689392	3	4	157	1	0	0	0	0	1	0	0	0	10042	768	27	1	1852	1	MYH9	22	36689392	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		36689392	14615174	55	10895											
MAGEB18	286514	broad.mit.edu	37	X	26157310	26157310	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chrX:26157310A>G	uc022bub.1	+	0	208	c.208A>G	c.(208-210)Acc>Gcc	p.T70A	MAGEB18_uc004dbq.2_Missense_Mutation_p.T70A	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	70							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGCCCCATCCACCACCAATGC	0.532													G	26157310	A	G	26157310	3	3	157	1	0	0	0	0	1	0	0	0	9175	159	6	4	210	4	MAGEB18	23	26157310	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		26157310	129113250	56	10896											
SPOCD1	90853	broad.mit.edu	37	1	32280067	32280067	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:32280067C>T	uc001bts.1	-	1	926	c.868G>A	c.(868-870)Gct>Act	p.A290T	SPOCD1_uc001btu.3_Missense_Mutation_p.A290T|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	290					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCCCCTGTAGCGGGCAAATAT	0.632													T	32280067	C	T	32280067	3	4	158	1	0	0	0	0	1	0	0	0	15077	768	27	1	2842	1	SPOCD1	1	32280067	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		32280067	216970554	1	10897											
PTPRF	5792	broad.mit.edu	37	1	44056912	44056912	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:44056912C>T	uc001cjr.3	+	8	1559	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	PTPRF_uc001cjs.3_Missense_Mutation_p.R407C|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	407	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTGCGGGCACGCACGGGAGA	0.701													T	44056912	C	T	44056912	3	4	158	1	0	0	0	0	1	0	0	0	12801	536	19	1	1245	1	PTPRF	1	44056912	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	11776845	44056912	205193709	2	10898											
CLCA1	1179	broad.mit.edu	37	1	86951220	86951220	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:86951220delC	uc001dlt.3	+	5	1190	c.930delC	c.(928-930)gtcfs	p.V310fs	CLCA1_uc001dls.1_Frame_Shift_Del_p.V249fs	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	310	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGTGTTTAGTCCTTGACAAAT	0.448													-	86951220	C	-	86951220	7	5	158	1	0	1	0	1	0	0	0	0	3457	842	30	0	952	0	CLCA1	1	86951220	Frame_Shift_Del	DEL	C	TCGA-19-2625-01A-01D-1495-08	42894308	86951220	162299401	3	10899											
SLAMF6	114836	broad.mit.edu	37	1	160465979	160465979	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:160465979C>T	uc001fwe.2	-	1	324	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.R85Q|SLAMF6_uc010pjh.2_Missense_Mutation_p.R36Q|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Missense_Mutation_p.R36Q	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	85						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GAAGTTCAGTCGCTTTCCCTG	0.463													T	160465979	C	T	160465979	3	4	158	1	0	0	0	0	1	0	0	0	14368	884	31	2	772	2	SLAMF6	1	160465979	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	73514759	160465979	88784642	4	10900											
C1orf49	400798	broad.mit.edu	37	1	178514674	178514674	+	Silent	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:178514674G>A	uc001glv.1	+						C1orf220_uc001glx.1_Non-coding_Transcript			Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 3, mRNA.							microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						tgagattgagggaggctgaaa	0.498													A	178514674	G	A	178514674	2	1	158	1	0	0	0	0	0	0	0	1	2041	1247	43	3		3	C1orf49	1	178514674	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	18048695	178514674	70735947	5	10901											
NPHS2	7827	broad.mit.edu	37	1	179520378	179520378	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:179520378A>G	uc001gmq.4	-	7	1167	c.1082T>C	c.(1081-1083)cTc>cCc	p.L361P	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Missense_Mutation_p.L293P|AXDND1_uc001gmr.3_Non-coding_Transcript	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	361					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGGGAAGGGGAGGCTTCCCTG	0.473													G	179520378	A	G	179520378	3	3	158	1	0	0	0	0	1	0	0	0	10583	304	11	4	73	4	NPHS2	1	179520378	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	1005704	179520378	69730243	6	10902											
CENPF	1063	broad.mit.edu	37	1	214816089	214816089	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:214816089G>A	uc001hkm.3	+	11	4582	c.4408G>A	c.(4408-4410)Gag>Aag	p.E1470K		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1566	2 X 96 AA approximate tandem repeats.				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.E1470Q(2)		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)		GGGCTTGGAGGAGGGGCTCGT	0.478													A	214816089	G	A	214816089	3	1	158	1	0	0	0	0	1	0	0	0	3231	1175	41	3	4450	3	CENPF	1	214816089	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	35295711	214816089	34434532	7	10903											
EPRS	2058	broad.mit.edu	37	1	220154727	220154727	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:220154727T>C	uc001hly.1	-	23	3716	c.3446A>G	c.(3445-3447)aAt>aGt	p.N1149S	RNU5F-1_uc021pjd.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	1149	Prolyl-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)	TACCACCACATTGCACCACTG	0.358													C	220154727	T	C	220154727	3	2	158	1	0	0	0	0	1	0	0	0	5191	1493	52	4	1128	4	EPRS	1	220154727	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	5338638	220154727	29095894	8	10904											
TGFA	7039	broad.mit.edu	37	2	70742029	70742029	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:70742029G>A	uc002sgs.4	-	1	304	c.56C>T	c.(55-57)gCg>gTg	p.A19V	TGFA_uc010fdq.3_Missense_Mutation_p.A25V|TGFA_uc010fdr.3_Missense_Mutation_p.A25V|TGFA_uc002sgt.4_Missense_Mutation_p.A19V|TGFA_uc002sgu.3_Missense_Mutation_p.A19V|TGFA_uc002sgv.3_Missense_Mutation_p.A19V|TGFA_uc002sgw.3_Missense_Mutation_p.A19V	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	19					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	p.A19V(2)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCTGGCACGCAGCCAACAC	0.597													A	70742029	G	A	70742029	3	1	158	1	0	0	0	0	1	0	0	0	15812	1087	38	1	446	1	TGFA	2	70742029	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		70742029	172457344	9	10905											
THNSL2	55258	broad.mit.edu	37	2	88472749	88472749	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:88472749G>A	uc002ssy.4	+	0	1771	c.80G>A	c.(79-81)gGg>gAg	p.G27E	THNSL2_uc002ssw.4_Missense_Mutation_p.G27E|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_Intron|THNSL2_uc021vkq.1_Missense_Mutation_p.G27E|THNSL2_uc021vkr.1_Missense_Mutation_p.G27E	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	27					threonine biosynthetic process		threonine synthase activity	p.G27V(2)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCACCTGACGGGGGCCTCTTT	0.607													A	88472749	G	A	88472749	3	1	158	1	0	0	0	0	1	0	0	0	15860	1232	43	3	82	3	THNSL2	2	88472749	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	17730720	88472749	154726624	10	10906											
YSK4	80122	broad.mit.edu	37	2	135745654	135745654	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:135745654T>G	uc002tue.1	-	6	819	c.788A>C	c.(787-789)gAg>gCg	p.E263A	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E150A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_5'UTR|YSK4_uc002tui.4_Missense_Mutation_p.E280A	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	263							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCCGGAGGCTCGTTTGATGG	0.443													G	135745654	T	G	135745654	3	3	158	1	0	0	0	0	1	0	0	0	17492	1551	54	5	3214	5	YSK4	2	135745654	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	47272905	135745654	107453719	11	10907											
ARHGAP15	55843	broad.mit.edu	37	2	143913090	143913090	+	Missense_Mutation	SNP	G	G	A	rs140767178		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:143913090G>A	uc002tvm.4	+	1	182	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	ARHGAP15_uc010zbl.1_Missense_Mutation_p.V11M	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	11					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGATACTTCCGTGGAAACACT	0.363													A	143913090	G	A	143913090	3	1	158	1	0	0	0	0	1	0	0	0	866	1145	40	1	33	1	ARHGAP15	2	143913090	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	8167436	143913090	99286283	12	10908											
SCN7A	6332	broad.mit.edu	37	2	167262458	167262458	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:167262458C>A	uc002udu.2	-	24	4811	c.4681G>T	c.(4681-4683)Gct>Tct	p.A1561S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1561					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGTCCAAAGCAATGAGCTGG	0.453													A	167262458	C	A	167262458	3	1	158	1	0	0	0	0	1	0	0	0	13923	710	25	5	371	5	SCN7A	2	167262458	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	23349368	167262458	75936915	13	10909											
INPP5D	3635	broad.mit.edu	37	2	234106832	234106832	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:234106832G>A	uc010zmo.2	+	23	2851	c.2698G>A	c.(2698-2700)Gtg>Atg	p.V900M	INPP5D_uc010zmp.2_Missense_Mutation_p.V899M	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	929					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCCCCTGCACGTGAAGCAGAC	0.647													A	234106832	G	A	234106832	3	1	158	1	0	0	0	0	1	0	0	0	7756	1145	40	1	2391	1	INPP5D	2	234106832	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	66844374	234106832	9092541	14	10910											
UGT1A1	54658	broad.mit.edu	37	2	234669017	234669017	+	Silent	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:234669017G>A	uc002vuw.3	+						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.G28G|UGT1A1_uc002vvb.3_Silent_p.G28G	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.						bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCATGCTGGGAAGATACTGT	0.617													A	234669017	G	A	234669017	2	1	158	1	0	0	0	0	0	0	0	1	16941	1161	41	3		3	UGT1A1	2	234669017	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	562185	234669017	8530356	15	10911											
PPP1R7	5510	broad.mit.edu	37	2	242105797	242105797	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:242105797C>G	uc002wat.1	+	7	769	c.760C>G	c.(760-762)Ctg>Gtg	p.L254V	PPP1R7_uc010fzm.1_Missense_Mutation_p.L238V|PPP1R7_uc002was.3_Missense_Mutation_p.L254V|PPP1R7_uc002wau.1_Missense_Mutation_p.L211V	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.	254						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCTGGTGAACCTGCGGGAGCT	0.552													G	242105797	C	G	242105797	3	3	158	1	0	0	0	0	1	0	0	0	12376	680	24	5	790	5	PPP1R7	2	242105797	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	7436780	242105797	1093576	16	10912											
CAND2	23066	broad.mit.edu	37	3	12856870	12856870	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:12856870T>A	uc003bxk.2	+	7	1286	c.1237T>A	c.(1237-1239)Tgg>Agg	p.W413R	CAND2_uc003bxj.2_Missense_Mutation_p.W320R	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	413					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCGAAGGGATGGCTGGAGGC	0.607													A	12856870	T	A	12856870	3	1	158	1	0	0	0	0	1	0	0	0	2616	1464	51	5	1267	5	CAND2	3	12856870	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		12856870	185165560	17	10913											
LRIG1	26018	broad.mit.edu	37	3	66455660	66455660	+	Silent	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:66455660C>T	uc003dmx.3	-	8	1136	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	LRIG1_uc011bfu.2_5'Flank|LRIG1_uc003dmw.3_Silent_p.T40T|LRIG1_uc010hnz.3_Silent_p.T114T|LRIG1_uc010hoa.3_Silent_p.T374T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	374						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGGCGCCGCTCGTGTCCTCTA	0.612													T	66455660	C	T	66455660	2	4	158	1	0	0	0	0	0	0	0	1	8944	871	31	2		2	LRIG1	3	66455660	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	53598790	66455660	131566770	18	10914											
GPR15	2838	broad.mit.edu	37	3	98251885	98251885	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:98251885C>G	uc011bgy.2	+	0	1008	c.1008C>G	c.(1006-1008)caC>caG	p.H336Q		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	336						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			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)		CAGATAGTCACCTCACTAAGG	0.483													G	98251885	C	G	98251885	3	3	158	1	0	0	0	0	1	0	0	0	6655	506	18	5	1010	5	GPR15	3	98251885	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	31796225	98251885	99770545	19	10915											
PDLIM5	10611	broad.mit.edu	37	4	95575673	95575673	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr4:95575673G>A	uc003hti.3	+	9	1497	c.1346G>A	c.(1345-1347)tGc>tAc	p.C449Y	PDLIM5_uc011cdx.1_Missense_Mutation_p.C346Y|PDLIM5_uc003htj.3_Missense_Mutation_p.C124Y|PDLIM5_uc003htk.3_Missense_Mutation_p.C478Y|PDLIM5_uc011cdy.2_Missense_Mutation_p.C327Y|PDLIM5_uc003hth.3_Missense_Mutation_p.C340Y|PDLIM5_uc003htl.3_Missense_Mutation_p.C124Y	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	449	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGCGCTCACTGCAAAAATACA	0.448													A	95575673	G	A	95575673	3	1	158	1	0	0	0	0	1	0	0	0	11683	1319	46	3	1540	3	PDLIM5	4	95575673	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		95575673	95578603	20	10916											
ODZ3	55714	broad.mit.edu	37	4	183710311	183710311	+	Silent	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr4:183710311C>T	uc003ivd.1	+	23	5445	c.5370C>T	c.(5368-5370)gaC>gaT	p.D1790D		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1790					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGATCTATGACGACCACCGTA	0.448													T	183710311	C	T	183710311	2	4	158	1	0	0	0	0	0	0	0	1	10836	535	19	1		1	ODZ3	4	183710311	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	88134638	183710311	7443965	21	10917											
SLC12A7	10723	broad.mit.edu	37	5	1085433	1085433	+	Silent	SNP	C	C	T	rs112522540		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:1085433C>T	uc003jbu.3	-	6	897	c.831G>A	c.(829-831)gcG>gcA	p.A277A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	277					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGAAGACCAGCGCCAGCTTGT	0.637													T	1085433	C	T	1085433	2	4	158	1	0	0	0	0	0	0	0	1	14388	755	27	1		1	SLC12A7	5	1085433	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08		1085433	179829827	22	10918											
JMY	133746	broad.mit.edu	37	5	78533329	78533329	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:78533329T>C	uc003kfx.4	+	0	1405	c.856T>C	c.(856-858)Tgt>Cgt	p.C286R		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	286					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CGACACTCTGTGTTACCAGCT	0.632													C	78533329	T	C	78533329	3	2	158	1	0	0	0	0	1	0	0	0	7957	1696	59	4	858	4	JMY	5	78533329	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	77447896	78533329	102381931	23	10919											
EGR1	1958	broad.mit.edu	37	5	137801566	137801568	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:137801566_137801568delTGC	uc003ldb.1	+	0	386_388	c.116_118delTGC	c.(115-120)atgctg>atg	p.L41del		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	41					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGGAGATGATGCTGCTGAGCAA	0.67													-	137801568	TGC	-	137801566	7	5	158	1	0	1	0	1	0	0	0	0	4971	1464	51	0	118	0	EGR1	5	137801566	In_Frame_Del	DEL	TGC	TCGA-19-2625-01A-01D-1495-08	59268237	137801566	43113694	24	10920											
MED7	9443	broad.mit.edu	37	5	156566183	156566183	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:156566183A>G	uc010jik.3	-	1	652	c.260T>C	c.(259-261)aTt>aCt	p.I87T	MED7_uc003lwm.4_Missense_Mutation_p.I87T|MED7_uc021ygl.1_Missense_Mutation_p.I87T	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	87					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGAAATTAATAAGGATAGA	0.378													G	156566183	A	G	156566183	3	3	158	1	0	0	0	0	1	0	0	0	9452	101	4	4	445	4	MED7	5	156566183	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	18764617	156566183	24349077	25	10921											
SQSTM1	8878	broad.mit.edu	37	5	179260112	179260114	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:179260112_179260114delGAG	uc003mkw.4	+	5	930_932	c.835_837delGAG	c.(835-837)gagdel	p.E280del	SQSTM1_uc011dgr.2_In_Frame_Del_p.E196del|SQSTM1_uc011dgs.2_In_Frame_Del_p.E196del|SQSTM1_uc003mkx.3_In_Frame_Del_p.E196del	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	280	Interaction with NTRK1 (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCAGCACAGAGGAGAAGAGCA	0.596													-	179260114	GAG	-	179260112	7	5	158	1	0	1	0	1	0	0	0	0	15129	943	33	0	857	0	SQSTM1	5	179260112	In_Frame_Del	DEL	GAG	TCGA-19-2625-01A-01D-1495-08	22693929	179260112	1655148	26	10922											
HSP90AB1	3326	broad.mit.edu	37	6	44217828	44217828	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:44217828G>C	uc003oxa.1	+	4	669	c.585G>C	c.(583-585)gaG>gaC	p.E195D	HSP90AB1_uc011dvr.1_Missense_Mutation_p.E185D|HSP90AB1_uc003oxb.1_Missense_Mutation_p.E195D|HSP90AB1_uc011dvs.1_Missense_Mutation_p.E15D|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	195					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCTAGAAGAGAGGCGGGTCA	0.428													C	44217828	G	C	44217828	3	2	158	1	0	0	0	0	1	0	0	0	7402	933	33	5	599	5	HSP90AB1	6	44217828	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		44217828	126897239	27	10923											
GSTA4	2941	broad.mit.edu	37	6	52850376	52850376	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:52850376G>A	uc003pbf.3	-	3	295	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	GSTA4_uc003pbd.3_5'UTR	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	49	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	AACAGCAGGTGGTTACCTGAG	0.458													A	52850376	G	A	52850376	3	1	158	1	0	0	0	0	1	0	0	0	6833	1348	47	3	539	3	GSTA4	6	52850376	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	8632548	52850376	118264691	28	10924											
PHF3	23469	broad.mit.edu	37	6	64416078	64416078	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:64416078A>T	uc003pep.1	+	10	3552	c.3527A>T	c.(3526-3528)cAg>cTg	p.Q1176L	PHF3_uc010kah.1_Missense_Mutation_p.Q990L|PHF3_uc003pen.2_Missense_Mutation_p.Q1088L|PHF3_uc011dxs.1_Missense_Mutation_p.Q445L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1176					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGGAGAAACAGGAGTCTCCA	0.378													T	64416078	A	T	64416078	3	4	158	1	0	0	0	0	1	0	0	0	11836	188	7	5	3569	5	PHF3	6	64416078	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	11565702	64416078	106698989	29	10925											
EZR	7430	broad.mit.edu	37	6	159210403	159210403	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:159210403T>C	uc003qrt.4	-	2	228	c.13_splice	c.e2-1	p.I5_splice	EZR_uc011efs.2_Splice_Site_p.I5_splice|EZR_uc003qru.4_Splice_Site_p.I5_splice	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	5	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CGGACATTGATCTGAAAAACA	0.428			T	ROS1	NSCLC								C	159210403	T	C	159210403	3	2	158	1	0	0	0	0	1	0	0	0	5335	1449	50	4	1795	4	EZR	6	159210403	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	94794325	159210403	11904664	30	10926											
MLLT4	4301	broad.mit.edu	37	6	168343837	168343837	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:168343837A>G	uc021zik.1	+	22	3303	c.2984A>G	c.(2983-2985)tAt>tGt	p.Y995C	MLLT4_uc003qwb.1_Missense_Mutation_p.Y1020C|MLLT4_uc003qwc.2_Missense_Mutation_p.Y1036C|MLLT4_uc021zij.1_Missense_Mutation_p.Y1020C|MLLT4_uc021zim.1_Missense_Mutation_p.Y582C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y345C	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1036					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAGGAATCTATGTGAAGTCG	0.373			T	MLL	AL								G	168343837	A	G	168343837	3	3	158	1	0	0	0	0	1	0	0	0	9629	449	16	4	3197	4	MLLT4	6	168343837	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	9133434	168343837	2771230	31	10927											
EGFR	1956	broad.mit.edu	37	7	55249002	55249003	+	In_Frame_Ins	INS	-	-	CAGCGTGGA			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr7:55249002_55249003insCAGCGTGGA	uc003tqk.3	+	19	2546_2547	c.2300_2301insCAGCGTGGA	c.(2299-2301)gcc>gcCAGCGTGGAc	p.770_771insSVD	EGFR_uc022adm.1_In_Frame_Ins_p.770_771insSVD|EGFR_uc010kzg.2_In_Frame_Ins_p.725_726insSVD|EGFR_uc022adn.1_In_Frame_Ins_p.725_726insSVD|EGFR_uc011kco.2_In_Frame_Ins_p.717_718insSVD|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.5_6insSVD	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	770	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V769_D770insASV(26)|p.D770_N771insSVD(24)|p.D770_N771insG(8)|p.D770>GY(4)|p.V769M(4)|p.A767V(3)|p.V769L(3)|p.V769_D770insGVV(3)|p.D770N(2)|p.N771_P772insN(2)|p.N771_P772insH(2)|p.V769_D770insMASVD(2)|p.S768_V769insVAS(2)|p.N771_P772>SVDNR(2)|p.N771>TH(1)|p.N771>GT(1)|p.V769_D770insCV(1)|p.D770_N771insVDSVDNP(1)|p.D770_N771insGF(1)|p.D770_N771insGD(1)|p.D770_N771>AGG(1)|p.D770_N771insGL(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.D770_N771insD(1)|p.V769_D770insGSV(1)|p.D770_N771insN(1)|p.V769_D770insDNV(1)|p.S768_V769>IL(1)|p.D770_N771insAPW(1)|p.D770_N771insSVP(1)|p.D770_N771insSVQ(1)|p.D770>GF(1)|p.(768_770)insRCD(1)|p.N771_P772insRH(1)|p.(V769)ins?(1)|p.N771>SH(1)|p.D770_N771insMATP(1)|p.D770_N771insDG(1)|p.S768_V769insAWT(1)|p.N771>GY(1)|p.S752_V769del(1)|p.N771>YG(1)|p.V769_D770insGRV(1)|p.D770_N771insNPH(1)|p.V769_D770insGV(1)|p.N771>GF(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACGTGATGGCCAGCGTGGACA	0.649		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			CAGCGTGGA	55249003	-	CAGCGTGGA	55249002	7	5	158	1	0	1	1	0	0	0	0	0	4967	739	26	0	2642	0	EGFR	7	55249002	In_Frame_Ins	INS	-	TCGA-19-2625-01A-01D-1495-08		55249002	103889661	32	10928											
CYP3A7	1577	broad.mit.edu	37	7	99277452	99277452	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr7:99277452T>C	uc003urq.3	-	0	170	c.68A>G	c.(67-69)tAt>tGt	p.Y23C	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_5'UTR|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.Y23C	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	23					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TACTCACAGATAGAGGAGCAC	0.488													C	99277452	T	C	99277452	3	2	158	1	0	0	0	0	1	0	0	0	4181	1406	49	4		4	CYP3A7	7	99277452	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	44028450	99277452	59861211	33	10929											
DOCK5	80005	broad.mit.edu	37	8	25232155	25232155	+	Silent	SNP	C	C	T	rs138488512		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr8:25232155C>T	uc003xeg.3	+	36	3938	c.3801C>T	c.(3799-3801)caC>caT	p.H1267H	DOCK5_uc003xeh.1_Silent_p.H981H|DOCK5_uc003xek.3_Silent_p.H56H|DOCK5_uc003xei.3_Silent_p.H837H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1267	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCTCTTGCACGCTGAGCTTC	0.463													T	25232155	C	T	25232155	2	4	158	1	0	0	0	0	0	0	0	1	4690	535	19	1		1	DOCK5	8	25232155	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08		25232155	121131867	34	10930											
TBC1D2	55357	broad.mit.edu	37	9	101017509	101017509	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr9:101017509G>C	uc011lvb.2	-	0	495	c.315C>G	c.(313-315)gaC>gaG	p.D105E	TBC1D2_uc004ayq.3_Missense_Mutation_p.D105E|TBC1D2_uc004ayr.3_5'UTR	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	105	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTCCTCAGCGTCCGCCTTAC	0.537													C	101017509	G	C	101017509	3	2	158	1	0	0	0	0	1	0	0	0	15605	1136	40	5	2490	5	TBC1D2	9	101017509	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		101017509	40195922	35	10931											
ARMC4	55130	broad.mit.edu	37	10	28229643	28229643	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr10:28229643G>T	uc009xky.3	-	12	1933	c.1835C>A	c.(1834-1836)gCa>gAa	p.A612E	ARMC4_uc010qds.2_Missense_Mutation_p.A137E|ARMC4_uc010qdt.2_Missense_Mutation_p.A304E|ARMC4_uc001itz.3_Missense_Mutation_p.A612E|ARMC4_uc010qdu.1_Missense_Mutation_p.A304E	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	612							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGGGCCAGTGCCCCACAGCG	0.517													T	28229643	G	T	28229643	3	4	158	1	0	0	0	0	1	0	0	0	953	1319	46	5	1331	5	ARMC4	10	28229643	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		28229643	107305104	36	10932											
PTEN	5728	broad.mit.edu	37	10	89685314	89685314	+	Missense_Mutation	SNP	T	T	A	rs121909226		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr10:89685314T>A	uc001kfb.3	+	3	1241	c.209_splice	c.e3+1	p.L70_splice	PTEN_uc021pvw.1_Intron	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	70	Phosphatase tensin-type.		L -> P (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.L70P(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATATACAATCTGTAAGTATGT	0.279		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89685314	T	A	89685314	3	1	158	1	0	0	0	0	1	0	0	0	12738	1594	55	5	219	5	PTEN	10	89685314	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	61455671	89685314	45849433	37	10933											
CDHR5	53841	broad.mit.edu	37	11	618758	618758	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr11:618758T>C	uc001lql.3	-	12	2068	c.1801A>G	c.(1801-1803)Aca>Gca	p.T601A	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.T601A|CDHR5_uc009ycd.3_Missense_Mutation_p.T595A|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.T435A	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	601	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCTGTGCTGTGCCCCCACCG	0.667													C	618758	T	C	618758	3	2	158	1	0	0	0	0	1	0	0	0	3122	1696	59	4	748	4	CDHR5	11	618758	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		618758	134387758	38	10934											
CD3E	916	broad.mit.edu	37	11	118184559	118184559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr11:118184559C>T	uc001psq.4	+	6	746	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	164					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	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;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GCCTGTGACACGAGGAGCGGG	0.597													T	118184559	C	T	118184559	4	4	158	1	0	0	0	0	0	1	0	0	3011	528	19	1	512	1	CD3E	11	118184559	Nonsense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	117565801	118184559	16821957	39	10935											
ABCC9	10060	broad.mit.edu	37	12	22065805	22065805	+	Splice_Site	DEL	C	C	-			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:22065805delC	uc001rfh.3	-	6	1031	c.1011_splice	c.e6+1	p.G337_splice	ABCC9_uc001rfi.1_Splice_Site_p.G337_splice	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	337	ABC transmembrane type-1 1.				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			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)	CAGGAACTTACTCCAGTTGTG	0.353													-	22065805	C	-	22065805	8	5	158	1	0	1	0	1	0	0	1	0	59	579	20	0	3911	0	ABCC9	12	22065805	Splice_Site	DEL	C	TCGA-19-2625-01A-01D-1495-08		22065805	111786090	40	10936											
WNT10B	7480	broad.mit.edu	37	12	49361974	49361974	+	Silent	SNP	G	G	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:49361974G>T	uc001rss.3	-	3	910	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	WNT10B_uc001rst.3_Silent_p.R156R	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	156					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.R156Q(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GCCCTCAGCCGATCCTGCTCA	0.667													T	49361974	G	T	49361974	2	4	158	1	0	0	0	0	0	0	0	1	17380	1057	37	5		5	WNT10B	12	49361974	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	27296169	49361974	84489921	41	10937											
EP400	57634	broad.mit.edu	37	12	132471269	132471269	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:132471269C>A	uc001ujn.3	+	5	2292	c.2140C>A	c.(2140-2142)Ccc>Acc	p.P714T	EP400_uc021rgq.1_Missense_Mutation_p.P713T|EP400_uc001ujm.3_Missense_Mutation_p.P714T|EP400_uc001ujj.2_Missense_Mutation_p.P677T|EP400_uc001ujk.3_Missense_Mutation_p.P750T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	750					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCATCTGCCCCCACCAAACC	0.532													A	132471269	C	A	132471269	3	1	158	1	0	0	0	0	1	0	0	0	5149	623	22	5	2155	5	EP400	12	132471269	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	83109295	132471269	1380626	42	10938											
RB1	5925	broad.mit.edu	37	13	48919325	48919332	+	Frame_Shift_Del	DEL	AAATTGGA	AAATTGGA	-	rs66624868		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr13:48919325_48919332delAAATTGGA	uc001vcb.3	+	3	656_663	c.490_497delAAATTGGA	c.(490-498)aaattggaafs	p.K164fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	164					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.E166*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTCTTCAGCAAATTGGAAAGGTAAAGT	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48919332	AAATTGGA	-	48919325	7	5	158	1	0	1	0	1	0	0	0	0	13098	131	5	0	504	0	RB1	13	48919325	Frame_Shift_Del	DEL	AAATTGGA	TCGA-19-2625-01A-01D-1495-08		48919325	66250553	43	10939											
KIAA0317	9870	broad.mit.edu	37	14	75149998	75149998	+	Splice_Site	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr14:75149998C>T	uc001xqb.3	-	5	986	c.481_splice	c.e5+1	p.G161_splice	KIAA0317_uc010tut.1_Splice_Site	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	161					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		aaagaaCCTACCAGGTTGAAA	0.388													T	75149998	C	T	75149998	5	4	158	1	0	0	0	0	0	0	1	0	8167	521	18	3	2053	3	KIAA0317	14	75149998	Splice_Site	SNP	C	TCGA-19-2625-01A-01D-1495-08		75149998	32199542	44	10940											
PGP	283871	broad.mit.edu	37	16	2263929	2263929	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:2263929C>A	uc002cpk.1	-	1	810	c.766G>T	c.(766-768)Gtc>Ttc	p.V256F	C16orf79_uc002cpi.2_5'Flank|C16orf79_uc010bsh.3_5'Flank	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	Homo sapiens phosphoglycolate phosphatase (PGP), mRNA.	256					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						CCCACCATGACGGTGCGCTCG	0.632													A	2263929	C	A	2263929	3	1	158	1	0	0	0	0	1	0	0	0	11802	536	19	5	203	5	PGP	16	2263929	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		2263929	88090824	45	10941											
CDH5	1003	broad.mit.edu	37	16	66426078	66426078	+	Missense_Mutation	SNP	G	G	A	rs147523967		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:66426078G>A	uc002eom.4	+	6	1165	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	CDH5_uc002eon.1_Missense_Mutation_p.V337I	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	337	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCTTCATCGTCGAGGCCAC	0.547													A	66426078	G	A	66426078	3	1	158	1	0	0	0	0	1	0	0	0	3113	1145	40	1	1031	1	CDH5	16	66426078	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	64162149	66426078	23928675	46	10942											
PMFBP1	83449	broad.mit.edu	37	16	72153835	72153835	+	Silent	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:72153835G>A	uc002fcc.4	-	19	3109	c.2937C>T	c.(2935-2937)tgC>tgT	p.C979C	PMFBP1_uc002fcd.3_Silent_p.C974C|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.C849C	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	979										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCAAGGTGCCGCACACTTTCT	0.557													A	72153835	G	A	72153835	2	1	158	1	0	0	0	0	0	0	0	1	12134	1079	38	1		1	PMFBP1	16	72153835	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	5727757	72153835	18200918	47	10943											
KARS	3735	broad.mit.edu	37	16	75669879	75669879	+	Silent	SNP	C	C	T	rs143003475		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:75669879C>T	uc002feq.3	-	4	648	c.600G>A	c.(598-600)ccG>ccA	p.P200P	KARS_uc002fer.3_Silent_p.P228P|KARS_uc010cgz.3_Silent_p.P44P	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	200					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TGATCTCATACGGAATGATGC	0.448													T	75669879	C	T	75669879	2	4	158	1	0	0	0	0	0	0	0	1	7980	523	19	1		1	KARS	16	75669879	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	3516044	75669879	14684874	48	10944											
OR1G1	8390	broad.mit.edu	37	17	3030338	3030338	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:3030338C>T	uc002fvc.1	-	0	508	c.508G>A	c.(508-510)Gca>Aca	p.A170T		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TCATGGTTTGCGCAGAAGGAC	0.532													T	3030338	C	T	3030338	3	4	158	1	0	0	0	0	1	0	0	0	10957	768	27	1	437	1	OR1G1	17	3030338	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		3030338	78164872	49	10945											
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:7577568C>T	uc002gim.2	-	6	907	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)			T	7577568	C	T	7577568	3	4	158	1	0	0	0	0	1	0	0	0	16378	478	17	3	577	3	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	4547230	7577568	73617642	50	10946											
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:7578235T>C	uc002gim.2	-	5	808	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.3_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.2_Missense_Mutation_p.Y166C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(127)|p.E204*(27)|p.Y205S(26)|p.Y205F(16)|p.Y205D(14)|p.Y205H(8)|p.0?(8)|p.Y73C(5)|p.?(5)|p.Y112C(5)|p.Y205N(4)|p.Y205*(4)|p.E204fs*5(3)|p.E204fs*43(3)|p.E204fs*39(2)|p.E204_N210delEYLDDRN(2)|p.E204K(2)|p.E204G(2)|p.E204D(2)|p.E204E(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.E204fs*4(1)|p.Y73S(1)|p.V203_E204>V*(1)|p.Y112S(1)|p.Y205fs*43(1)|p.V203_E204>LV(1)|p.E204A(1)|p.E204V(1)|p.E204Q(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)		GTCATCCAAATACTCCACACG	0.542		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)			C	7578235	T	C	7578235	3	2	158	1	0	0	0	0	1	0	0	0	16378	1406	49	4	680	4	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	667	7578235	73616975	51	10947											
MYH2	4620	broad.mit.edu	37	17	10432765	10432765	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:10432765G>A	uc010coi.3	-	24	3279	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1051C|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1051					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1051C(2)|p.R1051H(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						AGGTCCATGCGAAGTTTCTTT	0.383													A	10432765	G	A	10432765	3	1	158	1	0	0	0	0	1	0	0	0	10035	1058	37	2	2738	2	MYH2	17	10432765	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	2854530	10432765	70762445	52	10948											
MUC16	94025	broad.mit.edu	37	19	9068025	9068025	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:9068025T>C	uc002mkp.3	-	2	19625	c.19421A>G	c.(19420-19422)cAc>cGc	p.H6474R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6476	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						CATAGCTGAGTGGGTCCCTGC	0.488													C	9068025	T	C	9068025	3	2	158	1	0	0	0	0	1	0	0	0	9973	1696	59	4	24430	4	MUC16	19	9068025	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		9068025	50060958	53	10949											
LDLR	3949	broad.mit.edu	37	19	11224247	11224247	+	Silent	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:11224247T>C	uc002mqk.4	+	9	1582	c.1395T>C	c.(1393-1395)taT>taC	p.Y465Y	LDLR_uc010xlk.2_Silent_p.Y465Y|LDLR_uc010xll.2_Silent_p.Y424Y|LDLR_uc021upc.1_Silent_p.Y344Y|LDLR_uc010xln.2_Silent_p.Y338Y|LDLR_uc010xlo.2_Silent_p.Y297Y|LDLR_uc010xlm.2_Silent_p.Y318Y|LDLR_uc021upd.1_Silent_p.Y202Y	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	465					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TCTCTTCCTATGACACCGTCA	0.622													C	11224247	T	C	11224247	2	2	158	1	0	0	0	0	0	0	0	1	8704	1471	51	4		4	LDLR	19	11224247	Silent	SNP	T	TCGA-19-2625-01A-01D-1495-08	2156222	11224247	47904736	54	10950											
PRPF31	26121	broad.mit.edu	37	19	54621969	54621969	+	Missense_Mutation	SNP	T	T	C	rs145505952	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:54621969T>C	uc002qdh.2	+	2	590	c.194T>C	c.(193-195)aTg>aCg	p.M65T	TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.M65T|PRPF31_uc021vbi.1_Missense_Mutation_p.M65T	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	65					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGATTATGATGAAGATTGAG	0.502													C	54621969	T	C	54621969	3	2	158	1	0	0	0	0	1	0	0	0	12566	1464	51	4	200	4	PRPF31	19	54621969	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	43397722	54621969	4507014	55	10951											
C20orf72	92667	broad.mit.edu	37	20	17950509	17950509	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:17950509A>G	uc002wqh.3	+	1	89	c.7A>G	c.(7-9)Atg>Gtg	p.M3V	C20orf72_uc010gco.3_Non-coding_Transcript|C20orf72_uc010gcp.3_5'Flank|SNX5_uc002wqc.3_5'Flank|SNX5_uc002wqd.3_5'Flank|SNX5_uc002wqe.3_5'Flank|SNX5_uc010zrt.1_5'Flank|AK296947_uc021way.1_5'Flank	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	Homo sapiens chromosome 20 open reading frame 72 (C20orf72), mRNA.	3										breast(1)|large_intestine(2)|lung(2)|urinary_tract(2)	7						CTGAATGAAGATGAAGTTATT	0.408													G	17950509	A	G	17950509	3	3	158	1	0	0	0	0	1	0	0	0	2118	333	12	4	9	4	C20orf72	20	17950509	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08		17950509	45075011	56	10952											
WFDC8	90199	broad.mit.edu	37	20	44184401	44184401	+	Silent	SNP	G	G	A	rs150100809	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:44184401G>A	uc002xow.3	-	3	463	c.384C>T	c.(382-384)tgC>tgT	p.C128C	WFDC8_uc002xox.3_Silent_p.C128C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	128	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CATTCCCTTCGCAGCCCCTGT	0.468													A	44184401	G	A	44184401	2	1	158	1	0	0	0	0	0	0	0	1	17353	1079	38	1		1	WFDC8	20	44184401	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	26233892	44184401	18841119	57	10953											
MC3R	4159	broad.mit.edu	37	20	54824279	54824279	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:54824279C>T	uc002xxb.2	+	0	492	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	164					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			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATCTGCATCTCCCTGGTGGCC	0.557													T	54824279	C	T	54824279	3	4	158	1	0	0	0	0	1	0	0	0	9365	855	30	3	382	3	MC3R	20	54824279	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	10639878	54824279	8201241	58	10954											
KRTAP24-1	643803	broad.mit.edu	37	21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:31654689C>T	uc002ynv.3	-	0	588	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	188						keratin filament	structural molecule activity	p.V188V(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418													T	31654689	C	T	31654689	3	4	158	1	0	0	0	0	1	0	0	0	8542	536	19	1	206	1	KRTAP24-1	21	31654689	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		31654689	16475206	59	10955											
PRDM15	63977	broad.mit.edu	37	21	43281674	43281674	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:43281674G>A	uc002yzq.1	-	6	1000	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GTGCGCACCGGCATGTCCTTC	0.532													A	43281674	G	A	43281674	3	1	158	1	0	0	0	0	1	0	0	0	12456	1203	42	3	3734	3	PRDM15	21	43281674	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	11626985	43281674	4848221	60	10956											
COL6A2	1292	broad.mit.edu	37	21	47546138	47546138	+	Silent	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:47546138C>T	uc002zia.1	+	25	2491	c.2409C>T	c.(2407-2409)gaC>gaT	p.D803D	COL6A2_uc002zhz.1_Silent_p.D803D|COL6A2_uc002zhy.1_Silent_p.D803D|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	803	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACATGGAGGACGTCCTCTGCC	0.647													T	47546138	C	T	47546138	2	4	158	1	0	0	0	0	0	0	0	1	3700	535	19	1		1	COL6A2	21	47546138	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	4264464	47546138	583757	61	10957											
RIMBP3	85376	broad.mit.edu	37	22	20458331	20458331	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr22:20458331C>G	uc002zsd.4	-	0	3456	c.2971G>C	c.(2971-2973)Gtg>Ctg	p.V991L	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ATACGGAGCACCCCTTTGGTC	0.602													G	20458331	C	G	20458331	3	3	158	1	0	0	0	0	1	0	0	0	13364	507	18	5	1952	5	RIMBP3	22	20458331	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		20458331	30846235	62	10958											
PISD	23761	broad.mit.edu	37	22	32017352	32017352	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr22:32017352C>T	uc003alm.4	-	4	723	c.665G>A	c.(664-666)cGt>cAt	p.R222H	PISD_uc003alk.2_Missense_Mutation_p.R188H|PISD_uc011alr.1_Missense_Mutation_p.R188H	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	Homo sapiens phosphatidylserine decarboxylase (PISD), mRNA.	222					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGTGCACATACGCGGGCCCAG	0.627											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	32017352	C	T	32017352	3	4	158	1	0	0	0	0	1	0	0	0	11946	536	19	1	580	1	PISD	22	32017352	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	11559021	32017352	19287214	63	10959											
PLCXD1	55344	broad.mit.edu	37	X	215977	215977	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:215977T>C	uc004cpc.3	+	6	1259	c.947T>C	c.(946-948)cTc>cCc	p.L316P	PLCXD1_uc011mgx.2_Non-coding_Transcript	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA.	316					intracellular signal transduction|lipid metabolic process		phospholipase C activity	p.L316L(1)		endometrium(3)|large_intestine(1)|lung(7)	11		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)				GTCATCGCGCTCAATCAGAAG	0.602													C	215977	T	C	215977	3	2	158	1	0	0	0	0	1	0	0	0	12041	1551	54	4	969	4	PLCXD1	23	215977	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		215977	155054583	64	10960											
WWC3	55841	broad.mit.edu	37	X	10096087	10096087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:10096087G>A	uc004csx.4	+	15	2364	c.2166G>A	c.(2164-2166)tgG>tgA	p.W722*	WWC3_uc010nds.3_Nonsense_Mutation_p.W386*|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	722										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCTGCGCTGGCATTCCGTGC	0.562													A	10096087	G	A	10096087	4	1	158	1	0	0	0	0	0	1	0	0	17410	1212	42	3	2224	3	WWC3	23	10096087	Nonsense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	9880110	10096087	145174473	65	10961											
PDHA1	5160	broad.mit.edu	37	X	19369427	19369427	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:19369427G>A	uc004czg.4	+	3	465	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_uc004czh.4_Missense_Mutation_p.G145D|PDHA1_uc011mjc.2_Missense_Mutation_p.G114D|PDHA1_uc011mjd.2_Missense_Mutation_p.G107D	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507													A	19369427	G	A	19369427	3	1	158	1	0	0	0	0	1	0	0	0	11664	1203	42	3	473	3	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	9273340	19369427	135901133	66	10962											
CCNB3	85417	broad.mit.edu	37	X	50051674	50051674	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:50051674G>A	uc004dox.4	+	5	803	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	CCNB3_uc004doy.3_Missense_Mutation_p.E169K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	169					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TATTGAGGATGAAACCCTTAT	0.433													A	50051674	G	A	50051674	3	1	158	1	0	0	0	0	1	0	0	0	2914	1291	45	3	519	3	CCNB3	23	50051674	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	30682247	50051674	105218886	67	10963											
TBX22	50945	broad.mit.edu	37	X	79281244	79281244	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:79281244C>G	uc010nmg.1	+	4	735	c.601C>G	c.(601-603)Ctc>Gtc	p.L201V	TBX22_uc004edi.1_Missense_Mutation_p.L81V|TBX22_uc004edj.1_Missense_Mutation_p.L201V	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	201					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L201I(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCGCATGAAACTCACCAACAA	0.537													G	79281244	C	G	79281244	3	3	158	1	0	0	0	0	1	0	0	0	15655	565	20	5	615	5	TBX22	23	79281244	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	29229570	79281244	75989316	68	10964											
ATP11C	286410	broad.mit.edu	37	X	138897124	138897124	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:138897124T>A	uc004faz.3	-	4	447	c.348A>T	c.(346-348)agA>agT	p.R116S	ATP11C_uc004fba.3_Missense_Mutation_p.R116S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	116					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGCTCTGTGTCTCAGACAAT	0.303													A	138897124	T	A	138897124	3	1	158	1	0	0	0	0	1	0	0	0	1121	1664	58	5	3217	5	ATP11C	23	138897124	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	59615880	138897124	16373436	69	10965											
DNAJB4	11080	broad.mit.edu	37	1	78470832	78470832	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:78470832A>G	uc001dij.3	+	0	197	c.38A>G	c.(37-39)aAa>aGa	p.K13R	DNAJB4_uc010orn.2_Intron	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	13	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGAATTGAGAAAGGAGCTTCA	0.368													G	78470832	A	G	78470832	3	3	159	1	0	0	0	0	1	0	0	0	4622	14	1	4	40	4	DNAJB4	1	78470832	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08		78470832	170779789	1	10966											
ODF2L	57489	broad.mit.edu	37	1	86822223	86822223	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:86822223C>T	uc001dll.2	-	13	1784	c.1422G>A	c.(1420-1422)gcG>gcA	p.A474A	ODF2L_uc001dlp.3_Intron|ODF2L_uc010osg.2_Intron|ODF2L_uc001dlm.2_Silent_p.A445A	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	474						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TCCGTTCCGCCGCCGTCAAGG	0.547													T	86822223	C	T	86822223	2	4	159	1	0	0	0	0	0	0	0	1	10828	639	23	2		2	ODF2L	1	86822223	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	8351391	86822223	162428398	2	10967											
ZNF644	84146	broad.mit.edu	37	1	91403294	91403296	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:91403294_91403296delCTT	uc001dnw.3	-	3	3717_3719	c.3434_3436delAAG	c.(3433-3438)gaaggg>ggg	p.E1145del	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E1144K(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAATTCAGCCCTTCTTCTTCTGA	0.365													-	91403296	CTT	-	91403294	7	5	159	1	0	1	0	1	0	0	0	0	18057	681	24	0	559	0	ZNF644	1	91403294	In_Frame_Del	DEL	CTT	TCGA-19-2629-01A-01D-1495-08	4581071	91403294	157847327	3	10968											
TMED5	50999	broad.mit.edu	37	1	93620253	93620256	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:93620253_93620256delCAAA	uc001dpn.3	-	3	1108_1111	c.661_664delTTTG	c.(661-666)tttgaafs	p.F221fs	TMED5_uc001dpp.3_Non-coding_Transcript|TMED5_uc001dpo.3_3'UTR	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 5 (TMED5), transcript variant 1, mRNA.	221					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CTCTTATCTTCAAACAGACTCTTC	0.348													-	93620256	CAAA	-	93620253	7	5	159	1	0	1	0	1	0	0	0	0	16004	835	29	0	29	0	TMED5	1	93620253	Frame_Shift_Del	DEL	CAAA	TCGA-19-2629-01A-01D-1495-08	2216959	93620253	155630368	4	10969											
SSR2	6746	broad.mit.edu	37	1	155989853	155989853	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:155989853C>A	uc001fmx.3	-	1	186	c.106G>T	c.(106-108)Gag>Tag	p.E36*	SSR2_uc010pgw.2_Nonsense_Mutation_p.E55*	NM_003145	NP_003136	P43308	SSRB_HUMAN	Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA.	36					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCGTCCCTCCACGGCGTAT	0.483													A	155989853	C	A	155989853	4	1	159	1	0	0	0	0	0	1	0	0	15190	864	30	5	465	5	SSR2	1	155989853	Nonsense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	62369600	155989853	93260768	5	10970											
OR6K2	81448	broad.mit.edu	37	1	158670186	158670186	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:158670186A>G	uc001fsu.1	-	0	257	c.257T>C	c.(256-258)cTt>cCt	p.L86P		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CCTCTCACTAAGCAGGCTAGA	0.458													G	158670186	A	G	158670186	3	3	159	1	0	0	0	0	1	0	0	0	11202	72	3	4	721	4	OR6K2	1	158670186	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	2680333	158670186	90580435	6	10971											
NDUFS2	4720	broad.mit.edu	37	1	161182256	161182256	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:161182256C>T	uc001fyv.3	+	10	1550	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	NDUFS2_uc001fyw.3_Nonsense_Mutation_p.R368*|NDUFS2_uc010pkj.2_Nonsense_Mutation_p.R317*|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	368					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TCCACCTAAGCGAGCAGAGAT	0.527													T	161182256	C	T	161182256	4	4	159	1	0	0	0	0	0	1	0	0	10292	760	27	1	1140	1	NDUFS2	1	161182256	Nonsense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	2512070	161182256	88068365	7	10972											
NOS1AP	9722	broad.mit.edu	37	1	162257211	162257213	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:162257211_162257213delGAA	uc001gbv.2	+	2	642_644	c.255_257delGAA	c.(253-258)ctgaag>ctg	p.K90del	NOS1AP_uc010pkr.1_In_Frame_Del_p.K92del|NOS1AP_uc001gbw.2_In_Frame_Del_p.K92del|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	90	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGTGATTCTGAAGAAGAAGAAA	0.433													-	162257213	GAA	-	162257211	7	5	159	1	0	1	0	1	0	0	0	0	10542	1277	45	0	265	0	NOS1AP	1	162257211	In_Frame_Del	DEL	GAA	TCGA-19-2629-01A-01D-1495-08	1074955	162257211	86993410	8	10973											
TNNT2	7139	broad.mit.edu	37	1	201331099	201331101	+	In_Frame_Del	DEL	TCT	TCT	-	rs121964859		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:201331099_201331101delTCT	uc001gwf.3	-	12	719_721	c.650_652delAGA	c.(649-654)aagatt>att	p.K217del	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_In_Frame_Del_p.K210del|TNNT2_uc001gwg.3_In_Frame_Del_p.K207del|TNNT2_uc001gwh.3_In_Frame_Del_p.K198del|TNNT2_uc001gwi.3_In_Frame_Del_p.K177del|TNNT2_uc009wzr.3_In_Frame_Del_p.K148del	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	220					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCAGCCAGAATCTTCTTCTTCTT	0.576											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	201331101	TCT	-	201331099	7	5	159	1	0	1	0	1	0	0	0	0	16328	1435	50	0	251	0	TNNT2	1	201331099	In_Frame_Del	DEL	TCT	TCGA-19-2629-01A-01D-1495-08	39073888	201331099	47919522	9	10974											
KIDINS220	57498	broad.mit.edu	37	2	8872006	8872006	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:8872006T>C	uc002qzc.2	-	29	4342	c.4160A>G	c.(4159-4161)tAt>tGt	p.Y1387C	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y1288C|KIDINS220_uc002qzb.2_Missense_Mutation_p.Y241C	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1387					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTATTCTCTATAGGCATCTCT	0.463													C	8872006	T	C	8872006	3	2	159	1	0	0	0	0	1	0	0	0	8271	1406	49	4	1159	4	KIDINS220	2	8872006	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08		8872006	234327367	10	10975											
DPYSL5	56896	broad.mit.edu	37	2	27165614	27165616	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:27165614_27165616delAGA	uc002rhu.4	+	10	1594_1596	c.1436_1438delAGA	c.(1435-1440)gagaag>gag	p.K480del	DPYSL5_uc002rhv.4_In_Frame_Del_p.K480del|DPYSL5_uc021vev.1_In_Frame_Del_p.K480del	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	480					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGAGAGAGAAGGTGAGGTG	0.557											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	27165616	AGA	-	27165614	7	5	159	1	0	1	0	1	0	0	0	0	4750	304	11	0	1474	0	DPYSL5	2	27165614	In_Frame_Del	DEL	AGA	TCGA-19-2629-01A-01D-1495-08	18293608	27165614	216033759	11	10976											
TMEM214	54867	broad.mit.edu	37	2	27258019	27258019	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:27258019T>A	uc002ria.4	+	2	478	c.368T>A	c.(367-369)cTg>cAg	p.L123Q	TMEM214_uc002rib.4_Missense_Mutation_p.L123Q	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	123						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTGGCAGACCTGCAGAAGGAA	0.537													A	27258019	T	A	27258019	3	1	159	1	0	0	0	0	1	0	0	0	16134	1580	55	5	378	5	TMEM214	2	27258019	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	92405	27258019	215941354	12	10977											
FAM176A	84141	broad.mit.edu	37	2	75745200	75745200	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:75745200C>A	uc002sni.2	-	2	545	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	FAM176A_uc002snj.1_Missense_Mutation_p.A10S|FAM176A_uc002snk.1_Missense_Mutation_p.A23S	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	23	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						AAGGAATAGGCCGCTAGGATG	0.612													A	75745200	C	A	75745200	3	1	159	1	0	0	0	0	1	0	0	0	5499	739	26	5	399	5	FAM176A	2	75745200	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	48487181	75745200	167454173	13	10978											
SEPT10	151011	broad.mit.edu	37	2	110350668	110350668	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:110350668G>C	uc002tey.3	-	1	438	c.59C>G	c.(58-60)aCa>aGa	p.T20R	SEPT10_uc010ywu.1_Missense_Mutation_p.T20R|SEPT10_uc002tew.3_Missense_Mutation_p.T20R|SEPT10_uc002tex.3_Intron|SEPT10_uc010ywv.2_5'UTR	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	20					cell cycle|cell division	septin complex	GTP binding	p.T19T(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CATACAAGTTGTTTTCGTTGC	0.323													C	110350668	G	C	110350668	3	2	159	1	0	0	0	0	1	0	0	0	14060	1377	48	5	1345	5	SEPT10	2	110350668	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	34605468	110350668	132848705	14	10979											
NEB	4703	broad.mit.edu	37	2	152518698	152518698	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:152518698T>C	uc021vrb.1	-	43	5950	c.5921A>G	c.(5920-5922)gAc>gGc	p.D1974G	NEB_uc002txu.3_Missense_Mutation_p.D1974G|NEB_uc021vrc.1_Missense_Mutation_p.D1974G|NEB_uc010fnx.3_Missense_Mutation_p.D1974G|NEB_uc021vrd.1_Missense_Mutation_p.D1974G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1974					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTCATCGAGTCCATGAGTGT	0.413													C	152518698	T	C	152518698	3	2	159	1	0	0	0	0	1	0	0	0	10302	1667	58	4	20313	4	NEB	2	152518698	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	42168030	152518698	90680675	15	10980											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	159	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	56594414	209113112	34086261	16	10981											
ZNF142	7701	broad.mit.edu	37	2	219521105	219521105	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:219521105C>T	uc002vin.3	-	3	484	c.48G>A	c.(46-48)gaG>gaA	p.E16E	ZNF142_uc002vil.3_5'UTR|ZNF142_uc010fvt.3_5'UTR|ZNF142_uc002vim.3_5'UTR	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTCCATCCATCTCCCCGGTGC	0.582													T	219521105	C	T	219521105	2	4	159	1	0	0	0	0	0	0	0	1	17728	912	32	3		3	ZNF142	2	219521105	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	10407993	219521105	23678268	17	10982											
NUP210	23225	broad.mit.edu	37	3	13432743	13432743	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:13432743C>T	uc003bxv.1	-	3	584	c.501G>A	c.(499-501)gcG>gcA	p.A167A		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	167					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGAACCTGTCCGCCTCGGAGT	0.582													T	13432743	C	T	13432743	2	4	159	1	0	0	0	0	0	0	0	1	10760	639	23	2		2	NUP210	3	13432743	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08		13432743	184589687	18	10983											
MRPS25	64432	broad.mit.edu	37	3	15094113	15094115	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:15094113_15094115delCTC	uc003bzl.3	-	3	470_472	c.355_357delGAG	c.(355-357)gagdel	p.E119del	MRPS25_uc011avl.2_In_Frame_Del_p.89_90RR>R|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), nuclear gene encoding mitochondrial protein, mRNA.	119					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GCTGCTTTTTCTCCTCCTCCTCT	0.586													-	15094115	CTC	-	15094113	7	5	159	1	0	1	0	1	0	0	0	0	9836	912	32	0	168	0	MRPS25	3	15094113	In_Frame_Del	DEL	CTC	TCGA-19-2629-01A-01D-1495-08	1661370	15094113	182928317	19	10984											
NICN1	84276	broad.mit.edu	37	3	49463788	49463788	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:49463788T>G	uc003cwz.1	-	1	291	c.206A>C	c.(205-207)cAc>cCc	p.H69P	NICN1_uc021wxy.1_5'Flank|NICN1_uc011bcr.2_Missense_Mutation_p.H69P	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	Homo sapiens nicolin 1 (NICN1), mRNA.	69						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAGGTGTGTGTGCTGAGGT	0.498													G	49463788	T	G	49463788	3	3	159	1	0	0	0	0	1	0	0	0	10413	1696	59	5	455	5	NICN1	3	49463788	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	34369675	49463788	148558642	20	10985											
TMEM115	11070	broad.mit.edu	37	3	50396188	50396190	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:50396188_50396190delAGA	uc003dan.1	-	0	750_752	c.305_307delTCT	c.(304-309)ttctca>tca	p.F102del	Mir_324_uc021wyp.1_5'Flank	NM_007024	NP_008955	Q12893	TM115_HUMAN	Homo sapiens transmembrane protein 115 (TMEM115), mRNA.	102					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCACCACTGAGAAGAAGATGAG	0.601													-	50396190	AGA	-	50396188	7	5	159	1	0	1	0	1	0	0	0	0	16026	304	11	0	756	0	TMEM115	3	50396188	In_Frame_Del	DEL	AGA	TCGA-19-2629-01A-01D-1495-08	932400	50396188	147626242	21	10986											
C3orf17	25871	broad.mit.edu	37	3	112724550	112724550	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:112724550T>C	uc003dzr.3	-	8	1598	c.1537A>G	c.(1537-1539)Atg>Gtg	p.M513V	C3orf17_uc011bia.2_Missense_Mutation_p.M310V|C3orf17_uc003dzu.3_Missense_Mutation_p.M442V|C3orf17_uc011bib.2_Missense_Mutation_p.M402V|C3orf17_uc011bic.2_Missense_Mutation_p.M346V|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Missense_Mutation_p.M138V|C3orf17_uc003dzt.3_Missense_Mutation_p.M416V|C3orf17_uc003dzs.3_Missense_Mutation_p.M377V|C3orf17_uc010hqg.3_Missense_Mutation_p.M338V	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	513						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATGACAGGCATTGAAACTCCA	0.388													C	112724550	T	C	112724550	3	2	159	1	0	0	0	0	1	0	0	0	2210	1493	52	4	170	4	C3orf17	3	112724550	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	62328362	112724550	85297880	22	10987											
CCDC37	348807	broad.mit.edu	37	3	126138549	126138549	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:126138549G>A	uc010hsg.1	+	7	863	c.804G>A	c.(802-804)tcG>tcA	p.S268S	CCDC37_uc003eiu.1_Silent_p.S267S	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	267										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACAAGCTGTCGCCCAAGGAGT	0.488													A	126138549	G	A	126138549	2	1	159	1	0	0	0	0	0	0	0	1	2809	1074	38	1		1	CCDC37	3	126138549	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	13413999	126138549	71883881	23	10988											
CP	1356	broad.mit.edu	37	3	148903188	148903188	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:148903188C>T	uc003ewy.4	-	11	2376	c.2123G>A	c.(2122-2124)gGc>gAc	p.G708D	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.G489D|CP_uc003ewz.3_Missense_Mutation_p.G708D	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	708	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.G708S(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGCTTCATGCCGCCTGTGTA	0.468													T	148903188	C	T	148903188	3	4	159	1	0	0	0	0	1	0	0	0	3787	739	26	3	1106	3	CP	3	148903188	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	22764639	148903188	49119242	24	10989											
VEPH1	79674	broad.mit.edu	37	3	157213090	157213090	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:157213090C>A	uc003fbj.2	-	1	468	c.49G>T	c.(49-51)Gct>Tct	p.A17S	VEPH1_uc003fbk.2_Missense_Mutation_p.A17S|VEPH1_uc010hvu.2_Missense_Mutation_p.A17S|VEPH1_uc021xgk.1_Missense_Mutation_p.A17S|VEPH1_uc003fbn.3_Missense_Mutation_p.A17S|VEPH1_uc003fbm.3_Missense_Mutation_p.A17S	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	17						plasma membrane		p.A17G(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGTCCCCAGCTCGTGAAAGA	0.413													A	157213090	C	A	157213090	3	1	159	1	0	0	0	0	1	0	0	0	17151	797	28	5	2626	5	VEPH1	3	157213090	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	8309902	157213090	40809340	25	10990											
TP63	8626	broad.mit.edu	37	3	189607256	189607256	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:189607256A>G	uc003fry.2	+	11	1724	c.1635A>G	c.(1633-1635)acA>acG	p.T545T	TP63_uc003frz.2_Silent_p.T545T|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T451T|TP63_uc003fsd.2_Silent_p.T451T|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Silent_p.T366T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	545	SAM.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGTATCCCACAGATTGCAGCA	0.597										HNSCC(45;0.13)			G	189607256	A	G	189607256	2	3	159	1	0	0	0	0	0	0	0	1	16389	175	7	4		4	TP63	3	189607256	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08	32394166	189607256	8415174	26	10991											
LGI2	55203	broad.mit.edu	37	4	25019723	25019723	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:25019723C>A	uc003grf.2	-	5	642	c.543G>T	c.(541-543)tgG>tgT	p.W181C		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	181	LRRCT.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATCTTCAACCACAGGTATA	0.373													A	25019723	C	A	25019723	3	1	159	1	0	0	0	0	1	0	0	0	8752	508	18	5	1106	5	LGI2	4	25019723	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		25019723	166134553	27	10992											
UGT2A3	79799	broad.mit.edu	37	4	69798344	69798344	+	Splice_Site	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:69798344A>G	uc003hef.2	-	3	1027	c.996_splice	c.e3+1	p.K332_splice	UGT2A3_uc010ihp.1_Splice_Site	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	332						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTTTTACTGACCTTCTGTGG	0.398													G	69798344	A	G	69798344	5	3	159	1	0	0	0	0	0	0	1	0	16952	289	10	4	601	4	UGT2A3	4	69798344	Splice_Site	SNP	A	TCGA-19-2629-01A-01D-1495-08	44778621	69798344	121355932	28	10993											
USP53	54532	broad.mit.edu	37	4	120213685	120213686	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:120213685_120213686delCT	uc003ics.4	+	17	3607_3608	c.2541_2542delCT	c.(2539-2544)aactctfs	p.N847fs	USP53_uc003icr.4_Frame_Shift_Del_p.N847fs|USP53_uc003icu.4_Frame_Shift_Del_p.N470fs	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	847					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACGTTGATAACTCTGCTTCTGG	0.391													-	120213686	CT	-	120213685	7	5	159	1	0	1	0	1	0	0	0	0	17081	564	20	0	2599	0	USP53	4	120213685	Frame_Shift_Del	DEL	CT	TCGA-19-2629-01A-01D-1495-08	50415341	120213685	70940591	29	10994											
PCDH18	54510	broad.mit.edu	37	4	138442804	138442804	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:138442804G>T	uc003ihe.4	-	3	3174	c.2787C>A	c.(2785-2787)gaC>gaA	p.D929E	PCDH18_uc003ihf.4_Missense_Mutation_p.D921E|PCDH18_uc011cgz.2_Missense_Mutation_p.D140E|PCDH18_uc003ihg.4_Missense_Mutation_p.D708E|PCDH18_uc011cha.2_Missense_Mutation_p.D109E	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	929	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D929V(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)					TCCAGCACTGGTCAGAGTGTC	0.498													T	138442804	G	T	138442804	3	4	159	1	0	0	0	0	1	0	0	0	11513	1252	44	5	624	5	PCDH18	4	138442804	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	18229119	138442804	52711472	30	10995											
SPOCK3	50859	broad.mit.edu	37	4	167921580	167921580	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:167921580C>T	uc011cjq.1	-	2	363	c.306G>A	c.(304-306)atG>atA	p.M102I	SPOCK3_uc021xuf.1_Missense_Mutation_p.M93I|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Missense_Mutation_p.M93I|SPOCK3_uc011cjs.1_Missense_Mutation_p.M42I|SPOCK3_uc003irj.1_Missense_Mutation_p.M90I|SPOCK3_uc011cjt.1_Missense_Mutation_p.M1I|SPOCK3_uc011cjp.2_Missense_Mutation_p.M90I|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.M90I|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	93					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			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)		GACTACATTTCATCTTTAAGC	0.348													T	167921580	C	T	167921580	3	4	159	1	0	0	0	0	1	0	0	0	15080	826	29	3	1063	3	SPOCK3	4	167921580	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	29478776	167921580	23232696	31	10996											
MFAP3L	9848	broad.mit.edu	37	4	170926952	170926952	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:170926952G>A	uc003isp.4	-	1	255	c.77C>T	c.(76-78)gCc>gTc	p.A26V	MFAP3L_uc003isn.4_5'Flank	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	26						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTTAGCGGTGGCTAGAGTGGA	0.458													A	170926952	G	A	170926952	3	1	159	1	0	0	0	0	1	0	0	0	9516	1203	42	3	1160	3	MFAP3L	4	170926952	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	3005372	170926952	20227324	32	10997											
TLR3	7098	broad.mit.edu	37	4	187003773	187003773	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:187003773G>A	uc003iyq.3	+	3	1034	c.933G>A	c.(931-933)caG>caA	p.Q311Q	TLR3_uc011ckz.2_Silent_p.Q34Q|TLR3_uc003iyr.3_Silent_p.Q34Q	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	311					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATAATATACAGCATTTGTTTT	0.383													A	187003773	G	A	187003773	2	1	159	1	0	0	0	0	0	0	0	1	15949	962	34	3		3	TLR3	4	187003773	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	16076821	187003773	4150503	33	10998											
SPEF2	79925	broad.mit.edu	37	5	35771803	35771804	+	Frame_Shift_Ins	INS	-	-	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:35771803_35771804insA	uc003jjo.3	+	26	4005_4006	c.3894_3895insA	c.(3892-3897)aataaafs	p.N1298fs	SPEF2_uc003jjp.1_Frame_Shift_Ins_p.N784fs|SPEF2_uc003jjr.3_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1298					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			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)			TGGGTGCAAATAAAAAAGTCAA	0.426													A	35771804	-	A	35771803	7	5	159	1	0	1	1	0	0	0	0	0	15034	1403	49	0	4021	0	SPEF2	5	35771803	Frame_Shift_Ins	INS	-	TCGA-19-2629-01A-01D-1495-08		35771803	145143457	34	10999											
PIK3R1	5295	broad.mit.edu	37	5	67589619	67589621	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:67589619_67589621delGAG	uc003jva.3	+	10	1962_1964	c.1382_1384delGAG	c.(1381-1386)cgagaa>caa	p.461_462RE>Q	PIK3R1_uc003jvc.3_In_Frame_Del_p.161_162RE>Q|PIK3R1_uc003jvd.3_In_Frame_Del_p.191_192RE>Q|PIK3R1_uc003jve.3_In_Frame_Del_p.140_141RE>Q|PIK3R1_uc021xzn.1_In_Frame_Del_p.98_99RE>Q|PIK3R1_uc011crb.2_In_Frame_Del_p.131_132RE>Q	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	461					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.F456_R461>S(2)|p.F456_R461del(2)|p.E462_R465delEYDR(2)|p.Q457_R461del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.E462*(2)|p.E162*(1)|p.E192*(1)|p.K459_S460>N(1)|p.0?(1)|p.?(1)|p.S460fs*5(1)|p.R461*(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAAAAAGTCGAGAATATGATAG	0.281			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589621	GAG	-	67589619	7	5	159	1	0	1	0	1	0	0	0	0	11918	1058	37	0	1550	0	PIK3R1	5	67589619	In_Frame_Del	DEL	GAG	TCGA-19-2629-01A-01D-1495-08	31817816	67589619	113325641	35	11000											
HOMER1	9456	broad.mit.edu	37	5	78752779	78752781	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:78752779_78752781delTTC	uc003kfy.3	-	1	1169_1171	c.66_68delGAA	c.(64-69)aagaac>aac	p.K22del	HOMER1_uc010jab.3_In_Frame_Del_p.K22del|HOMER1_uc010jac.3_In_Frame_Del_p.K22del|HOMER1_uc010jad.3_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	22	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GGGTACCCAGTTCTTCTTTGTGT	0.433													-	78752781	TTC	-	78752779	7	5	159	1	0	1	0	1	0	0	0	0	7278	1725	60	0	1028	0	HOMER1	5	78752779	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08	11163160	78752779	102162481	36	11001											
FAT2	2196	broad.mit.edu	37	5	150934173	150934173	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:150934173A>G	uc003lue.4	-	3	3708	c.3695T>C	c.(3694-3696)aTc>aCc	p.I1232T		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1232	Cadherin 10.				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)			GACGTCCAAGATGCCTACCAC	0.552													G	150934173	A	G	150934173	3	3	159	1	0	0	0	0	1	0	0	0	5690	333	12	4	9434	4	FAT2	5	150934173	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	72181394	150934173	29981087	37	11002											
TIMD4	91937	broad.mit.edu	37	5	156381617	156381617	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:156381617C>T	uc003lwh.2	-	1	266	c.209G>A	c.(208-210)cGc>cAc	p.R70H	TIMD4_uc010jii.2_Missense_Mutation_p.R70H	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	70	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCATCAGTGCGGATGAGCGC	0.522													T	156381617	C	T	156381617	3	4	159	1	0	0	0	0	1	0	0	0	15900	768	27	1	959	1	TIMD4	5	156381617	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	5447444	156381617	24533643	38	11003											
FGFR4	2264	broad.mit.edu	37	5	176520301	176520301	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:176520301A>C	uc003mfl.3	+	8	1387	c.1220A>C	c.(1219-1221)cAg>cCg	p.Q407P	FGFR4_uc003mfm.3_Missense_Mutation_p.Q407P|FGFR4_uc011dfu.2_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.3_Intron	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	407					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	GCCACTGTGCAGAAGCTCTCC	0.692										TSP Lung(9;0.080)			C	176520301	A	C	176520301	3	2	159	1	0	0	0	0	1	0	0	0	5868	188	7	5	1250	5	FGFR4	5	176520301	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	20138684	176520301	4394959	39	11004											
KIAA0319	9856	broad.mit.edu	37	6	24563608	24563608	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:24563608A>G	uc011djo.2	-	15	3070	c.2570T>C	c.(2569-2571)aTt>aCt	p.I857T	KIAA0319_uc011djp.2_Missense_Mutation_p.I812T|KIAA0319_uc003neh.1_Missense_Mutation_p.I857T|KIAA0319_uc011djq.1_Missense_Mutation_p.I848T|KIAA0319_uc011djr.1_Missense_Mutation_p.I857T|KIAA0319_uc010jpt.1_Missense_Mutation_p.I268T	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	857					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGGGCCCGAATCTTCTGGAC	0.567													G	24563608	A	G	24563608	3	3	159	1	0	0	0	0	1	0	0	0	8168	101	4	4	672	4	KIAA0319	6	24563608	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08		24563608	146551459	40	11005											
HIST1H3F	8968	broad.mit.edu	37	6	26250643	26250643	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:26250643C>T	uc003nhg.1	-	0	193	c.191G>A	c.(190-192)cGc>cAc	p.R64H	HIST1H2BH_uc003nhh.3_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	64					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						TGGTAGCTTGCGAATCAGTAG	0.612											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26250643	C	T	26250643	3	4	159	1	0	0	0	0	1	0	0	0	7160	768	27	1	223	1	HIST1H3F	6	26250643	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	1687035	26250643	144864424	41	11006											
TULP1	7287	broad.mit.edu	37	6	35477607	35477607	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:35477607T>C	uc003okv.4	-	5	610	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	TULP1_uc003okw.4_Missense_Mutation_p.K147E|TULP1_uc021yyx.1_Missense_Mutation_p.K200E|TULP1_uc021yyy.1_Missense_Mutation_p.K200E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	200					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCACCTTTCTTCTTGGTC	0.592													C	35477607	T	C	35477607	3	2	159	1	0	0	0	0	1	0	0	0	16770	1792	62	4	1070	4	TULP1	6	35477607	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	9226964	35477607	135637460	42	11007											
CAPN11	11131	broad.mit.edu	37	6	44140965	44140965	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:44140965T>A	uc003owt.1	+	6	711	c.673T>A	c.(673-675)Tcc>Acc	p.S225T		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	225	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGAGTGGGTCCTATGAAGC	0.617											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44140965	T	A	44140965	3	1	159	1	0	0	0	0	1	0	0	0	2624	1667	58	5	699	5	CAPN11	6	44140965	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	8663358	44140965	126974102	43	11008											
RAB23	51715	broad.mit.edu	37	6	57055306	57055309	+	Frame_Shift_Del	DEL	TTTG	TTTG	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:57055306_57055309delTTTG	uc003pds.3	-	6	870_873	c.664_667delCAAA	c.(664-669)caaaggfs	p.Q222fs	RAB23_uc003pdt.3_Frame_Shift_Del_p.Q222fs|RAB23_uc010kac.3_Frame_Shift_Del_p.Q222fs|RAB23_uc010kad.3_Non-coding_Transcript	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	Homo sapiens RAB23, member RAS oncogene family (RAB23), transcript variant 2, mRNA.	222					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTTGGTCCTTTGTTTGTTGGGT	0.387													-	57055309	TTTG	-	57055306	7	5	159	1	0	1	0	1	0	0	0	0	12910	1608	56	0	50	0	RAB23	6	57055306	Frame_Shift_Del	DEL	TTTG	TCGA-19-2629-01A-01D-1495-08	12914341	57055306	114059761	44	11009											
SPACA1	81833	broad.mit.edu	37	6	88769216	88769216	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:88769216A>C	uc003pmn.3	+	4	637	c.520A>C	c.(520-522)Aag>Cag	p.K174Q		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	174						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AGAAGTACGCAAGGAAAGTCA	0.343													C	88769216	A	C	88769216	3	2	159	1	0	0	0	0	1	0	0	0	14972	131	5	5	538	5	SPACA1	6	88769216	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	31713910	88769216	82345851	45	11010											
ASCC3	10973	broad.mit.edu	37	6	101110219	101110219	+	Splice_Site	SNP	A	A	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:101110219A>T	uc003pqk.3	-	15	2807	c.2478_splice	c.e15+1	p.K826_splice	ASCC3_uc011eai.1_Splice_Site_p.K728_splice	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	826	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAAGCTCTTACCTTAATAAT	0.398													T	101110219	A	T	101110219	5	4	159	1	0	0	0	0	0	0	1	0	1033	405	14	5	4240	5	ASCC3	6	101110219	Splice_Site	SNP	A	TCGA-19-2629-01A-01D-1495-08	12341003	101110219	70004848	46	11011											
CCDC129	223075	broad.mit.edu	37	7	31617703	31617703	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:31617703G>A	uc011kae.2	+	7	915	c.903G>A	c.(901-903)gaG>gaA	p.E301E	CCDC129_uc011kad.1_Silent_p.E285E|CCDC129_uc003tcj.1_Silent_p.E275E|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Silent_p.E183E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	275										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGTATCAGAGTCCTTCAAGG	0.453													A	31617703	G	A	31617703	2	1	159	1	0	0	0	0	0	0	0	1	2764	1020	36	3		3	CCDC129	7	31617703	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08		31617703	127520960	47	11012											
TRIM73	378108	broad.mit.edu	37	7	75028495	75028495	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:75028495G>A	uc010ldc.3	+	1	478	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	TRIM73_uc003udc.1_Missense_Mutation_p.R93Q|TRIM73_uc010ldd.2_Missense_Mutation_p.R93Q	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN	Homo sapiens tripartite motif containing 73 (TRIM73), mRNA.	93						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGCACCACCGGAACCCGCTC	0.667													A	75028495	G	A	75028495	3	1	159	1	0	0	0	0	1	0	0	0	16543	1116	39	2	280	2	TRIM73	7	75028495	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	43410792	75028495	84110168	48	11013											
SMURF1	57154	broad.mit.edu	37	7	98636097	98636099	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:98636097_98636099delGTT	uc003upu.2	-	14	2018_2020	c.1678_1680delAAC	c.(1678-1680)aacdel	p.N560del	SMURF1_uc003upv.2_In_Frame_Del_p.N534del|SMURF1_uc003upt.3_In_Frame_Del_p.N534del	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	560	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCCCGAAGGCGTTGTGTTCCACG	0.512													-	98636099	GTT	-	98636097	7	5	159	1	0	1	0	1	0	0	0	0	14819	1136	40	0	613	0	SMURF1	7	98636097	In_Frame_Del	DEL	GTT	TCGA-19-2629-01A-01D-1495-08	23607602	98636097	60502566	49	11014											
CFTR	1080	broad.mit.edu	37	7	117180363	117180363	+	Missense_Mutation	SNP	C	C	G	rs75053309		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:117180363C>G	uc003vjd.3	+	7	1211	c.1079C>G	c.(1078-1080)aCa>aGa	p.T360R	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	360	ABC transmembrane type-1 1.		QT -> KK (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTGTACAAACATGGTATGAC	0.388									Cystic Fibrosis				G	117180363	C	G	117180363	3	3	159	1	0	0	0	0	1	0	0	0	3294	478	17	5	1109	5	CFTR	7	117180363	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	18544266	117180363	41958300	50	11015											
SSPO	23145	broad.mit.edu	37	7	149477563	149477563	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:149477563C>A	uc010lpk.3	+	11	1634	c.1634C>A	c.(1633-1635)cCc>cAc	p.P545H	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	545					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGTAACCCCTGGTGGGTC	0.627													A	149477563	C	A	149477563	3	1	159	1	0	0	0	0	1	0	0	0	15188	623	22	5	1678	5	SSPO	7	149477563	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	32297200	149477563	9661100	51	11016											
POLR3D	661	broad.mit.edu	37	8	22106020	22106020	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:22106020C>T	uc003xbl.3	+	5	596	c.513C>T	c.(511-513)aaC>aaT	p.N171N	POLR3D_uc003xbm.3_Silent_p.N171N|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	171					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GCCTGAGGAACGACACTCGAA	0.527													T	22106020	C	T	22106020	2	4	159	1	0	0	0	0	0	0	0	1	12231	535	19	1		1	POLR3D	8	22106020	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08		22106020	124258002	52	11017											
KCTD9	54793	broad.mit.edu	37	8	25287394	25287394	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:25287394G>A	uc003xeo.3	-	11	1371	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_Non-coding_Transcript	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	383						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTTGTGACATGTGTAGTGGTG	0.428													A	25287394	G	A	25287394	2	1	159	1	0	0	0	0	0	0	0	1	8116	1368	48	3		3	KCTD9	8	25287394	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	3181374	25287394	121076628	53	11018											
FAM110B	90362	broad.mit.edu	37	8	59058884	59058884	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:59058884A>T	uc022auu.1	+	0	95	c.95A>T	c.(94-96)aAg>aTg	p.K32M	FAM110B_uc003xtj.1_Missense_Mutation_p.K32M	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	32						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATCCTGAACAAGGGGCCAGAC	0.657													T	59058884	A	T	59058884	3	4	159	1	0	0	0	0	1	0	0	0	5397	72	3	5	97	5	FAM110B	8	59058884	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	33771490	59058884	87305138	54	11019											
NCOA2	10499	broad.mit.edu	37	8	71069277	71069277	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:71069277A>G	uc003xyn.1	-	10	1485	c.1323T>C	c.(1321-1323)ttT>ttC	p.F441F		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	441					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGAACCACCAAACCTGCCCA	0.502			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								G	71069277	A	G	71069277	2	3	159	1	0	0	0	0	0	0	0	1	10229	127	5	4		4	NCOA2	8	71069277	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08	12010393	71069277	75294745	55	11020											
SLC7A13	157724	broad.mit.edu	37	8	87235301	87235301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:87235301delG	uc003ydq.1	-	1	815	c.717delC	c.(715-717)cccfs	p.P239fs	SLC7A13_uc003ydr.1_Frame_Shift_Del_p.P230fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	239						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATGCATTTGGGAATTGTTG	0.358													-	87235301	G	-	87235301	7	5	159	1	0	1	0	1	0	0	0	0	14695	1335	47	0	707	0	SLC7A13	8	87235301	Frame_Shift_Del	DEL	G	TCGA-19-2629-01A-01D-1495-08	16166024	87235301	59128721	56	11021											
NCALD	83988	broad.mit.edu	37	8	102705056	102705056	+	Silent	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:102705056T>C	uc003yke.3	-	2	816	c.447A>G	c.(445-447)acA>acG	p.T149T	NCALD_uc003ykf.3_Silent_p.T149T|NCALD_uc003ykg.3_Silent_p.T149T|NCALD_uc003ykh.3_Silent_p.T149T|NCALD_uc003yki.3_Silent_p.T149T|NCALD_uc003ykj.3_Silent_p.T149T|NCALD_uc003ykk.3_Silent_p.T149T|NCALD_uc003ykl.3_Silent_p.T149T	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	149	EF-hand 4.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGATCTTTTCTGTTCTTTTCT	0.507													C	102705056	T	C	102705056	2	2	159	1	0	0	0	0	0	0	0	1	10201	1567	55	4		4	NCALD	8	102705056	Silent	SNP	T	TCGA-19-2629-01A-01D-1495-08	15469755	102705056	43658966	57	11022											
PKHD1L1	93035	broad.mit.edu	37	8	110460477	110460477	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:110460477A>G	uc003yne.3	+	38	5986	c.5882A>G	c.(5881-5883)aAt>aGt	p.N1961S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1961	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ACCATGGCCAATGATAGTGTG	0.438										HNSCC(38;0.096)			G	110460477	A	G	110460477	3	3	159	1	0	0	0	0	1	0	0	0	11972	101	4	4	6036	4	PKHD1L1	8	110460477	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	7755421	110460477	35903545	58	11023											
FER1L6	654463	broad.mit.edu	37	8	125047566	125047566	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:125047566G>A	uc003yqw.3	+	18	2541	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	779						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)			AAAAGTCGACGTGTACCTGTG	0.493													A	125047566	G	A	125047566	3	1	159	1	0	0	0	0	1	0	0	0	5815	1145	40	1	2405	1	FER1L6	8	125047566	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	14587089	125047566	21316456	59	11024											
DGAT1	8694	broad.mit.edu	37	8	145540703	145540703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:145540703delG	uc003zbv.3	-	14	1498	c.1230delC	c.(1228-1230)gccfs	p.A410fs		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	410					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGAAGGCCGAGGCCAGGAACA	0.637													-	145540703	G	-	145540703	7	5	159	1	0	1	0	1	0	0	0	0	4457	987	35	0	248	0	DGAT1	8	145540703	Frame_Shift_Del	DEL	G	TCGA-19-2629-01A-01D-1495-08	20493137	145540703	823319	60	11025											
FXN	2395	broad.mit.edu	37	9	71687595	71687595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:71687595G>T	uc004aha.2	+	4	770	c.550G>T	c.(550-552)Gag>Tag	p.E184*	FXN_uc011lrr.1_Intron|FXN_uc004agz.2_Missense_Mutation_p.M186I	NM_000144	NP_000135	Q16595	FRDA_HUMAN	Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	184					cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding			large_intestine(1)|lung(1)	2						GTCCCTCCATGAGCTGCTGGC	0.498													T	71687595	G	T	71687595	4	4	159	1	0	0	0	0	0	1	0	0	6114	1291	45	5	576	5	FXN	9	71687595	Nonsense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		71687595	69525836	61	11026											
TLE4	7091	broad.mit.edu	37	9	82227600	82227600	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:82227600C>T	uc004ald.3	+	4	1110	c.261C>T	c.(259-261)atC>atT	p.I87I	TLE4_uc004alc.3_Silent_p.I94I|TLE4_uc010mpr.3_5'UTR|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.I87I|TLE4_uc010mps.3_Silent_p.I87I|TLE4_uc004alf.3_Silent_p.I32I	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGAATGCTATCTGTGCACAAG	0.408													T	82227600	C	T	82227600	2	4	159	1	0	0	0	0	0	0	0	1	15938	903	32	3		3	TLE4	9	82227600	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	10540005	82227600	58985831	62	11027											
TDRD7	23424	broad.mit.edu	37	9	100235814	100235814	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:100235814G>T	uc004axj.3	+	10	2210	c.1985G>T	c.(1984-1986)tGc>tTc	p.C662F	TDRD7_uc011lux.2_Missense_Mutation_p.C588F|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.2_Missense_Mutation_p.C11F	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	662					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACTAATATTTGCTCTGATGGG	0.443													T	100235814	G	T	100235814	3	4	159	1	0	0	0	0	1	0	0	0	15732	1319	46	5	2023	5	TDRD7	9	100235814	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	18008214	100235814	40977617	63	11028											
HSDL2	84263	broad.mit.edu	37	9	115181194	115181194	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:115181194delA	uc004bga.2	+	5	809	c.554delA	c.(553-555)gaafs	p.E185fs	HSDL2_uc004bgc.2_Frame_Shift_Del_p.E112fs|HSDL2_uc004bgb.2_Frame_Shift_Del_p.N36fs|HSDL2_uc011lww.2_Intron|HSDL2_uc011lwv.2_Frame_Shift_Del_p.E64fs	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), transcript variant 1, mRNA.	185						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATGGCAGAAGAATTTAAAGGT	0.284													-	115181194	A	-	115181194	7	5	159	1	0	1	0	1	0	0	0	0	7394	246	9	0	576	0	HSDL2	9	115181194	Frame_Shift_Del	DEL	A	TCGA-19-2629-01A-01D-1495-08	14945380	115181194	26032237	64	11029											
CDK5RAP2	55755	broad.mit.edu	37	9	123313122	123313122	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:123313122T>A	uc004bkf.3	-	3	435	c.254A>T	c.(253-255)gAg>gTg	p.E85V	CDK5RAP2_uc004bkg.3_Missense_Mutation_p.E85V|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E85V	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	85					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			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						CATTCTTTCCTCAAGGAAATA	0.383													A	123313122	T	A	123313122	3	1	159	1	0	0	0	0	1	0	0	0	3146	1551	54	5	5567	5	CDK5RAP2	9	123313122	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	8131928	123313122	17900309	65	11030											
TOR1A	1861	broad.mit.edu	37	9	132585088	132585088	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:132585088C>T	uc004byl.3	-	1	293	c.216G>A	c.(214-216)caG>caA	p.Q72Q	TOR1A_uc004byn.3_Silent_p.Q72Q	NM_000113	NP_000104	O14656	TOR1A_HUMAN	Homo sapiens torsin family 1, member A (torsin A) (TOR1A), mRNA.	72					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TTGCAAGATGCTGTCCAAAGA	0.483													T	132585088	C	T	132585088	2	4	159	1	0	0	0	0	0	0	0	1	16368	796	28	3		3	TOR1A	9	132585088	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	9271966	132585088	8628343	66	11031											
JMJD1C	221037	broad.mit.edu	37	10	64960280	64960282	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr10:64960280_64960282delTTC	uc001jmn.3	-	10	5530_5532	c.5230_5232delGAA	c.(5230-5232)gaadel	p.E1744del	JMJD1C_uc001jml.3_In_Frame_Del_p.E1525del|JMJD1C_uc001jmm.3_In_Frame_Del_p.E1456del|JMJD1C_uc010qiq.2_In_Frame_Del_p.E1562del|JMJD1C_uc009xpi.3_In_Frame_Del_p.E1562del|JMJD1C_uc009xpj.2_Intron|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1744					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			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)					AGTGAGCTGGTTCTTCTCCTTTT	0.35													-	64960282	TTC	-	64960280	7	5	159	1	0	1	0	1	0	0	0	0	7950	1722	60	0	2454	0	JMJD1C	10	64960280	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08		64960280	70574467	67	11032											
CYP2E1	1571	broad.mit.edu	37	10	135351261	135351261	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr10:135351261G>C	uc001lnj.1	+	7	1195	c.1162G>C	c.(1162-1164)Gtc>Ctc	p.V388L	CYP2E1_uc001lnk.1_Missense_Mutation_p.V251L|CYP2E1_uc009ybl.1_Missense_Mutation_p.V189L|CYP2E1_uc009ybm.1_Missense_Mutation_p.V42L|CYP2E1_uc001lnl.1_Missense_Mutation_p.V189L	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	388					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|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|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CTAGGGCACAGTCGTAGTGCC	0.398									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				C	135351261	G	C	135351261	3	2	159	1	0	0	0	0	1	0	0	0	4170	1029	36	5	1192	5	CYP2E1	10	135351261	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	70390981	135351261	183486	68	11033											
MUC5B	727897	broad.mit.edu	37	11	1257593	1257593	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:1257593G>A	uc001lta.3	+						MUC5B_uc009yct.2_Intron	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCGGCTTCCGGCAGCGTCTG	0.677													A	1257593	G	A	1257593	3	1	159	1	0	0	0	0	1	0	0	0	9979	1131	39	2		2	MUC5B	11	1257593	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		1257593	133748923	69	11034											
CHRNA10	57053	broad.mit.edu	37	11	3687783	3687783	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:3687783T>C	uc001lyf.3	-	4	979	c.907A>G	c.(907-909)Atg>Gtg	p.M303V	CHRNA10_uc010qxt.2_Missense_Mutation_p.M97V|CHRNA10_uc010qxu.2_Missense_Mutation_p.M97V	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	303					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	ATAGTGGCCATGTAGTACTTC	0.507													C	3687783	T	C	3687783	3	2	159	1	0	0	0	0	1	0	0	0	3382	1464	51	4	449	4	CHRNA10	11	3687783	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	2430190	3687783	131318733	70	11035											
CNGA4	1262	broad.mit.edu	37	11	6261617	6261617	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:6261617G>A	uc001mco.3	+	3	708	c.593G>A	c.(592-594)cGt>cAt	p.R198H	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.R158H	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	198					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTCGGGCGTGACGCATGG	0.547													A	6261617	G	A	6261617	3	1	159	1	0	0	0	0	1	0	0	0	3599	1145	40	1	607	1	CNGA4	11	6261617	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	2573834	6261617	128744899	71	11036											
OR10A6	390093	broad.mit.edu	37	11	7950020	7950020	+	Silent	SNP	G	G	A	rs141585665		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:7950020G>A	uc010rbh.2	-	0	190	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATAAGTTCAGGAGAAACAGG	0.443													A	7950020	G	A	7950020	2	1	159	1	0	0	0	0	0	0	0	1	10894	991	35	3		3	OR10A6	11	7950020	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	1688403	7950020	127056496	72	11037											
SYT13	57586	broad.mit.edu	37	11	45268002	45268002	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:45268002C>T	uc001myq.2	-	4	1034	c.908G>A	c.(907-909)cGc>cAc	p.R303H	SYT13_uc009yku.1_Missense_Mutation_p.R159H	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	303	C2 2.					transport vesicle		p.N302N(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CACCAGGAGGCGGTTGGCAGC	0.572													T	45268002	C	T	45268002	3	4	159	1	0	0	0	0	1	0	0	0	15466	768	27	1	380	1	SYT13	11	45268002	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	37317982	45268002	89738514	73	11038											
PSMC3	5702	broad.mit.edu	37	11	47446172	47446173	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:47446172_47446173delTT	uc001nfh.2	-	3	569_570	c.375_376delAA	c.(373-378)aaaaccfs	p.K125fs		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	125					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 complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	p.K125N(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGTGTAGAGGTTTTGATCACAG	0.545													-	47446173	TT	-	47446172	7	5	159	1	0	1	0	1	0	0	0	0	12687	1725	60	0	979	0	PSMC3	11	47446172	Frame_Shift_Del	DEL	TT	TCGA-19-2629-01A-01D-1495-08	2178170	47446172	87560344	74	11039											
SSRP1	6749	broad.mit.edu	37	11	57093935	57093937	+	In_Frame_Del	DEL	TTC	TTC	-	rs142261788		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:57093935_57093937delTTC	uc001njt.3	-	16	2341_2343	c.2074_2076delGAA	c.(2074-2076)gaadel	p.E692del	TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	692	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TACTGGCTAGTTCTTCTTCTTCA	0.552													-	57093937	TTC	-	57093935	7	5	159	1	0	1	0	1	0	0	0	0	15193	1722	60	0	57	0	SSRP1	11	57093935	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08	9647763	57093935	77912581	75	11040											
ODZ4	26011	broad.mit.edu	37	11	78440577	78440577	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:78440577T>C	uc001ozl.4	-	21	3713	c.3250A>G	c.(3250-3252)Atc>Gtc	p.I1084V		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1084					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TTGAAGGGGATGGTCGGGTGG	0.567													C	78440577	T	C	78440577	3	2	159	1	0	0	0	0	1	0	0	0	10837	1464	51	4	5111	4	ODZ4	11	78440577	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	21346642	78440577	56565939	76	11041											
TMEM126B	55863	broad.mit.edu	37	11	85342819	85342819	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:85342819T>C	uc001pap.3	+	1	200	c.170T>C	c.(169-171)aTa>aCa	p.I57T	TMEM126B_uc001pan.2_Missense_Mutation_p.I27T|TMEM126B_uc001paq.2_Missense_Mutation_p.I57T|TMEM126B_uc001pao.3_Missense_Mutation_p.I27T|TMEM126B_uc021qog.1_Missense_Mutation_p.I37T|TMEM126B_uc021qoh.1_Intron	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN	Homo sapiens transmembrane protein 126B (TMEM126B), transcript variant 1, mRNA.	57						integral to membrane				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATAGAAATCATAGAAAAAAAT	0.353													C	85342819	T	C	85342819	3	2	159	1	0	0	0	0	1	0	0	0	16036	1406	49	4	82	4	TMEM126B	11	85342819	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	6902242	85342819	49663697	77	11042											
FOLH1B	219595	broad.mit.edu	37	11	89424051	89424054	+	Frame_Shift_Del	DEL	AAAC	AAAC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:89424051_89424054delAAAC	uc001pda.3	+	10	1227_1230	c.701_704delAAAC	c.(700-705)gaaacafs	p.E234fs		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	234					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.T235I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCTGTAGGAAACAAACAAATTC	0.319													-	89424054	AAAC	-	89424051	7	5	159	1	0	1	0	1	0	0	0	0	5980	260	9	0	735	0	FOLH1B	11	89424051	Frame_Shift_Del	DEL	AAAC	TCGA-19-2629-01A-01D-1495-08	4081232	89424051	45582465	78	11043											
ARHGAP32	9743	broad.mit.edu	37	11	128840825	128840825	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:128840825G>C	uc009zcp.3	-	21	4241	c.4241C>G	c.(4240-4242)cCc>cGc	p.P1414R	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P373R|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1065R	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1414	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCTGGTGGGGGGCAGTGGTGC	0.592													C	128840825	G	C	128840825	3	2	159	1	0	0	0	0	1	0	0	0	881	1232	43	5	2026	5	ARHGAP32	11	128840825	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	39416774	128840825	6165691	79	11044											
KIAA1467	57613	broad.mit.edu	37	12	13208755	13208755	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:13208755G>A	uc001rbi.3	+	1	331	c.308G>A	c.(307-309)cGc>cAc	p.R103H		NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	103						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCATATGTGCGCACGTCTGTC	0.587													A	13208755	G	A	13208755	3	1	159	1	0	0	0	0	1	0	0	0	8235	1087	38	1	314	1	KIAA1467	12	13208755	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		13208755	120643140	80	11045											
HIST4H4	121504	broad.mit.edu	37	12	14923761	14923761	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:14923761A>G	uc001rcf.4	-	0	305	c.258T>C	c.(256-258)gaT>gaC	p.D86D	HIST4H4_uc001rce.3_Non-coding_Transcript	NM_175054	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 4, H4 (HIST4H4), mRNA.	86					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CGTACACCACATCCATGGCCG	0.587											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	14923761	A	G	14923761	2	3	159	1	0	0	0	0	0	0	0	1	7185	214	8	4		4	HIST4H4	12	14923761	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08	1715006	14923761	118928134	81	11046											
ARID2	196528	broad.mit.edu	37	12	46245922	46245923	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:46245922_46245923delAG	uc001ros.1	+	14	4016_4017	c.4016_4017delAG	c.(4015-4017)cagfs	p.Q1339fs	ARID2_uc001ror.3_Frame_Shift_Del_p.Q1339fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.Q795fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.Q966fs|ARID2_uc001rou.1_Frame_Shift_Del_p.Q673fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1339					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGGGAAACAGAACTCAGAAC	0.371			"N, S, F"		hepatocellular carcinoma								-	46245923	AG	-	46245922	7	5	159	1	0	1	0	1	0	0	0	0	915	188	7	0	4074	0	ARID2	12	46245922	Frame_Shift_Del	DEL	AG	TCGA-19-2629-01A-01D-1495-08	31322161	46245922	87605973	82	11047											
FREM2	341640	broad.mit.edu	37	13	39425866	39425866	+	Silent	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:39425866A>G	uc001uwv.3	+	10	7095	c.6786A>G	c.(6784-6786)gaA>gaG	p.E2262E	FREM2_uc001uww.3_Silent_p.E348E	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2262	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGTCACTGAACCCAAAGAAC	0.398													G	39425866	A	G	39425866	2	3	159	1	0	0	0	0	0	0	0	1	6045	40	2	4		4	FREM2	13	39425866	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08		39425866	75744012	83	11048											
AKAP11	11215	broad.mit.edu	37	13	42877884	42877884	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:42877884A>G	uc001uys.2	+	7	5177	c.5002A>G	c.(5002-5004)Agt>Ggt	p.S1668G		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1668					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGAGCTGAGCAGTACCAGCCT	0.507													G	42877884	A	G	42877884	3	3	159	1	0	0	0	0	1	0	0	0	447	188	7	4	5024	4	AKAP11	13	42877884	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	3452018	42877884	72291994	84	11049											
RCBTB2	1102	broad.mit.edu	37	13	49089796	49089796	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:49089796G>C	uc010tgg.2	-	3	430	c.139C>G	c.(139-141)Cta>Gta	p.L47V	RCBTB2_uc001vci.3_Missense_Mutation_p.L18V|RCBTB2_uc010tgh.2_5'UTR|RCBTB2_uc001vch.3_Missense_Mutation_p.L42V|RCBTB2_uc001vcj.3_Missense_Mutation_p.L46V|RCBTB2_uc010acv.1_Non-coding_Transcript|RCBTB2_uc010tgi.1_Missense_Mutation_p.L18V	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	42							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ATTAACTGTAGTTCTTCTTCA	0.363													C	49089796	G	C	49089796	3	2	159	1	0	0	0	0	1	0	0	0	13172	1020	36	5	1575	5	RCBTB2	13	49089796	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	6211912	49089796	66080082	85	11050											
RNASE4	6038	broad.mit.edu	37	14	21167918	21167918	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr14:21167918C>T	uc021rol.1	+	0	388	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	RNASE4_uc001vxy.4_Missense_Mutation_p.R130C|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.R130C	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.	130					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GAGCACTAGACGTGTTGTCAT	0.527													T	21167918	C	T	21167918	3	4	159	1	0	0	0	0	1	0	0	0	13406	536	19	1	390	1	RNASE4	14	21167918	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		21167918	86181622	86	11051											
GMPR2	51292	broad.mit.edu	37	14	24707579	24707581	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr14:24707579_24707581delGAA	uc001wnr.3	+	8	1207_1209	c.825_827delGAA	c.(823-828)atgaag>atg	p.K277del	GMPR2_uc001wnu.2_In_Frame_Del_p.K241del|GMPR2_uc001wns.3_In_Frame_Del_p.K277del|GMPR2_uc001wnv.3_In_Frame_Del_p.K114del|GMPR2_uc010alk.1_In_Frame_Del_p.K277del|GMPR2_uc001wnw.3_In_Frame_Del_p.K277del|GMPR2_uc001wnx.3_In_Frame_Del_p.K295del|GMPR2_uc010all.3_In_Frame_Del_p.K249del|GMPR2_uc010toe.1_In_Frame_Del_p.K277del	NM_001002001	NP_001002002	Q9P2T1	GMPR2_HUMAN	Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA.	277					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AAATGGCCATGAAGAAGTATGCT	0.537													-	24707581	GAA	-	24707579	7	5	159	1	0	1	0	1	0	0	0	0	6497	1290	45	0	909	0	GMPR2	14	24707579	In_Frame_Del	DEL	GAA	TCGA-19-2629-01A-01D-1495-08	3539661	24707579	82641961	87	11052											
DUOX2	50506	broad.mit.edu	37	15	45401132	45401132	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:45401132C>T	uc001zun.3	-	11	1456	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	DUOX2_uc010bea.3_Missense_Mutation_p.G418D	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	418	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGAGAATTTGCCAGGGCCAGG	0.552													T	45401132	C	T	45401132	3	4	159	1	0	0	0	0	1	0	0	0	4801	739	26	3	3485	3	DUOX2	15	45401132	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		45401132	57130260	88	11053											
ALDH1A2	8854	broad.mit.edu	37	15	58256142	58256142	+	Missense_Mutation	SNP	G	G	A	rs137957671		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:58256142G>A	uc002aex.3	-	8	1300	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	ALDH1A2_uc010ugv.2_Missense_Mutation_p.R322W|ALDH1A2_uc002aey.3_Missense_Mutation_p.R305W|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R314W|ALDH1A2_uc002aew.3_Missense_Mutation_p.R247W	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	343					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			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)	CTCTTGGCCCGCTCCACGCTT	0.527													A	58256142	G	A	58256142	3	1	159	1	0	0	0	0	1	0	0	0	491	1086	38	1	549	1	ALDH1A2	15	58256142	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	12855010	58256142	44275250	89	11054											
SCAPER	49855	broad.mit.edu	37	15	77059334	77059336	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:77059334_77059336delTTC	uc002bby.3	-	9	1401_1403	c.1342_1344delGAA	c.(1342-1344)gaadel	p.E448del	SCAPER_uc002bbx.3_In_Frame_Del_p.E202del|SCAPER_uc002bbz.1_In_Frame_Del_p.E319del|SCAPER_uc002bca.1_In_Frame_Del_p.E313del|SCAPER_uc002bcb.1_In_Frame_Del_p.E454del|SCAPER_uc002bcc.1_In_Frame_Del_p.E448del	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	447	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TAGTTAACTGTTCTTCTTCAGCA	0.355													-	77059336	TTC	-	77059334	7	5	159	1	0	1	0	1	0	0	0	0	13878	1722	60	0	2946	0	SCAPER	15	77059334	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08	18803192	77059334	25472058	90	11055											
SLC28A1	9154	broad.mit.edu	37	15	85476431	85476431	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:85476431C>T	uc002blg.3	+	12	1341	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	SLC28A1_uc010bnb.3_Missense_Mutation_p.A380V|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A380V|SLC28A1_uc010upg.1_Missense_Mutation_p.A380V	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	380					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTGCCTTGGCCCTCTCCAAG	0.562													T	85476431	C	T	85476431	3	4	159	1	0	0	0	0	1	0	0	0	14531	739	26	3	1252	3	SLC28A1	15	85476431	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	8417097	85476431	17054961	91	11056											
MVP	9961	broad.mit.edu	37	16	29855969	29855969	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:29855969G>A	uc002dui.3	+	10	1942	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R597H|MVP_uc010vea.2_Missense_Mutation_p.R191H	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	597					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AACTCAGCCCGCATCATTCGC	0.617													A	29855969	G	A	29855969	3	1	159	1	0	0	0	0	1	0	0	0	9996	1087	38	1	1828	1	MVP	16	29855969	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		29855969	60498784	92	11057											
MT1A	4489	broad.mit.edu	37	16	56673190	56673190	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:56673190T>C	uc002ejq.3	+	1	116	c.43T>C	c.(43-45)Tgc>Cgc	p.C15R	MT1A_uc002eji.3_Intron	NM_005946	NP_005937	P04731	MT1A_HUMAN	Homo sapiens metallothionein 1A (MT1A), mRNA.	15	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)	3						CTCCTGCACCTGCACTGGCTC	0.512													C	56673190	T	C	56673190	3	2	159	1	0	0	0	0	1	0	0	0	9897	1580	55	4	49	4	MT1A	16	56673190	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	26817221	56673190	33681563	93	11058											
SLC12A3	6559	broad.mit.edu	37	16	56901059	56901059	+	Silent	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:56901059C>T	uc002ekd.4	+	1	389	c.360C>T	c.(358-360)ggC>ggT	p.G120G	SLC12A3_uc010ccm.3_Silent_p.G120G|SLC12A3_uc010ccn.3_Silent_p.G119G	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	120					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGGTGGAGGGCGAGGCAGGCA	0.652													T	56901059	C	T	56901059	2	4	159	1	0	0	0	0	0	0	0	1	14384	755	27	1		1	SLC12A3	16	56901059	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	227869	56901059	33453694	94	11059											
CNOT1	23019	broad.mit.edu	37	16	58562381	58562385	+	Frame_Shift_Del	DEL	TTAGA	TTAGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:58562381_58562385delTTAGA	uc002env.3	-	43	6740_6744	c.6447_6451delTCTAA	c.(6445-6453)aatctaaagfs	p.N2149fs	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Frame_Shift_Del_p.N2144fs|CNOT1_uc002ent.3_Frame_Shift_Del_p.N87fs|CNOT1_uc010vik.2_Frame_Shift_Del_p.N1106fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2149					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AACCTTACCTTTAGATTAGGAGTGA	0.4													-	58562385	TTAGA	-	58562381	7	5	159	1	0	1	0	1	0	0	0	0	3617	1850	64	0	703	0	CNOT1	16	58562381	Frame_Shift_Del	DEL	TTAGA	TCGA-19-2629-01A-01D-1495-08	1661322	58562381	31792372	95	11060											
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:7578555C>T	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		CAGGGGAGTACTGTAGGAAGA	0.552		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)			T	7578555	C	T	7578555	5	4	159	1	0	0	0	0	0	0	1	0	16378	579	20	3	923	3	TP53	17	7578555	Splice_Site	SNP	C	TCGA-19-2629-01A-01D-1495-08		7578555	73616655	96	11061											
MYH4	4622	broad.mit.edu	37	17	10350506	10350506	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:10350506T>A	uc002gmn.3	-	34	5104	c.4993A>T	c.(4993-4995)Atc>Ttc	p.I1665F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1665					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCTCTGATGGCATCATCC	0.468													A	10350506	T	A	10350506	3	1	159	1	0	0	0	0	1	0	0	0	10037	1464	51	5	850	5	MYH4	17	10350506	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	2771951	10350506	70844704	97	11062											
MYH1	4619	broad.mit.edu	37	17	10395868	10395868	+	Silent	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:10395868G>T	uc002gmo.3	-	39	5779	c.5685C>A	c.(5683-5685)gtC>gtA	p.V1895V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1895						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGAGAGGTTGACGTTGGATT	0.473													T	10395868	G	T	10395868	2	4	159	1	0	0	0	0	0	0	0	1	10029	1277	45	5		5	MYH1	17	10395868	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	45362	10395868	70799342	98	11063											
DNAH9	1770	broad.mit.edu	37	17	11757746	11757749	+	Splice_Site	DEL	GTGA	GTGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:11757746_11757749delGTGA	uc002gne.3	+	50	10001	c.9933_splice	c.e50+1	p.A3311_splice	DNAH9_uc010coo.3_Splice_Site_p.A2605_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3311	Stalk (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			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)		CAAGATCGCTGTGAGTGACCCCAG	0.544													-	11757749	GTGA	-	11757746	8	5	159	1	0	1	0	1	0	0	1	0	4608	1391	48	0	10132	0	DNAH9	17	11757746	Splice_Site	DEL	GTGA	TCGA-19-2629-01A-01D-1495-08	1361878	11757746	69437464	99	11064											
FAM83G	644815	broad.mit.edu	37	17	18906958	18906958	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:18906958G>A	uc002guw.3	-	1	564	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	133										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCCAGCCCAGGTCCAGCTGC	0.701													A	18906958	G	A	18906958	2	1	159	1	0	0	0	0	0	0	0	1	5639	991	35	3		3	FAM83G	17	18906958	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	7149212	18906958	62288252	100	11065											
ACACA	31	broad.mit.edu	37	17	35564699	35564701	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:35564699_35564701delGGA	uc002hnm.3	-	30	3801_3803	c.3610_3612delTCC	c.(3610-3612)tccdel	p.S1204del	ACACA_uc002hnk.3_In_Frame_Del_p.S1126del|ACACA_uc002hnl.3_In_Frame_Del_p.S1146del|ACACA_uc002hnn.3_In_Frame_Del_p.S1204del|ACACA_uc002hno.3_In_Frame_Del_p.S1241del|ACACA_uc010cuy.3_5'Flank	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1204					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTTGAGGTTGGAGGAGAAGGAC	0.473													-	35564701	GGA	-	35564699	7	5	159	1	0	1	0	1	0	0	0	0	106	1335	47	0	3532	0	ACACA	17	35564699	In_Frame_Del	DEL	GGA	TCGA-19-2629-01A-01D-1495-08	16657741	35564699	45630511	101	11066											
SGSH	6448	broad.mit.edu	37	17	78185892	78185892	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:78185892G>A	uc002jxz.4	-	6	1014	c.927C>T	c.(925-927)agC>agT	p.S309S	SGSH_uc002jya.4_Silent_p.S106S|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	309					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGTAGGCCTCGCTGACTTGGC	0.617													A	78185892	G	A	78185892	2	1	159	1	0	0	0	0	0	0	0	1	14221	1078	38	1		1	SGSH	17	78185892	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	42621193	78185892	3009318	102	11067											
SETBP1	26040	broad.mit.edu	37	18	42533090	42533090	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:42533090G>C	uc010dni.3	+	3	4081	c.3785G>C	c.(3784-3786)aGa>aCa	p.R1262T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1262						nucleus	DNA binding	p.R1208K(1)|p.A1262A(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCACGAAAAGATACTCTGGC	0.537									Schinzel-Giedion syndrome				C	42533090	G	C	42533090	3	2	159	1	0	0	0	0	1	0	0	0	14129	942	33	5	3988	5	SETBP1	18	42533090	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		42533090	35544158	103	11068											
MYO5B	4645	broad.mit.edu	37	18	47479673	47479674	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:47479673_47479674delTC	uc002leb.2	-	13	1996_1997	c.1708_1709delGA	c.(1708-1710)gacfs	p.D570fs	MYO5B_uc021ukb.1_Frame_Shift_Del_p.D569fs	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	570	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATACACCGTGTCTCTGTTTTTC	0.52													-	47479674	TC	-	47479673	7	5	159	1	0	1	0	1	0	0	0	0	10079	1667	58	0	3945	0	MYO5B	18	47479673	Frame_Shift_Del	DEL	TC	TCGA-19-2629-01A-01D-1495-08	4946583	47479673	30597575	104	11069											
ZNF407	55628	broad.mit.edu	37	18	72343319	72343319	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:72343319C>A	uc002llw.2	+	0	397	c.344C>A	c.(343-345)aCc>aAc	p.T115N	ZNF407_uc010xfc.2_Missense_Mutation_p.T115N|ZNF407_uc010dqu.2_Missense_Mutation_p.T115N|ZNF407_uc002llu.2_Missense_Mutation_p.T114N	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GGGAAGGAGACCTTTCTGAGT	0.443													A	72343319	C	A	72343319	3	1	159	1	0	0	0	0	1	0	0	0	17884	507	18	5	346	5	ZNF407	18	72343319	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	24863646	72343319	5733929	105	11070											
ELANE	1991	broad.mit.edu	37	19	855979	855979	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:855979G>A	uc002lqb.3	+	4	657	c.619G>A	c.(619-621)Gtc>Atc	p.V207I		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	207	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGCCCCTTGGTCTGCAACGG	0.657													A	855979	G	A	855979	3	1	159	1	0	0	0	0	1	0	0	0	5048	1261	44	3	637	3	ELANE	19	855979	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		855979	58273004	106	11071											
TMIGD2	126259	broad.mit.edu	37	19	4298041	4298042	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:4298041_4298042delTA	uc002lzx.2	-	1	393_394	c.347_348delTA	c.(346-348)gtafs	p.V116fs	TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Frame_Shift_Del_p.V116fs	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	116	Ig-like.					integral to membrane		p.A115A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAATCTCTACGGCCGCCCA	0.653													-	4298042	TA	-	4298041	7	5	159	1	0	1	0	1	0	0	0	0	16228	1509	53	0	516	0	TMIGD2	19	4298041	Frame_Shift_Del	DEL	TA	TCGA-19-2629-01A-01D-1495-08	3442062	4298041	54830942	107	11072											
TRIP10	9322	broad.mit.edu	37	19	6751206	6751206	+	Missense_Mutation	SNP	G	G	A	rs139028261		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:6751206G>A	uc002mfs.3	+	14	1856	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	TRIP10_uc010dux.2_Missense_Mutation_p.E551K|TRIP10_uc002mfr.3_Missense_Mutation_p.R541Q|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	597	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCCTACCTCCGAGTCACGCTC	0.612													A	6751206	G	A	6751206	3	1	159	1	0	0	0	0	1	0	0	0	16551	1058	37	2	1676	2	TRIP10	19	6751206	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	2453165	6751206	52377777	108	11073											
C19orf43	79002	broad.mit.edu	37	19	12841881	12841881	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:12841881A>G	uc002muu.3	-	3	482	c.424_splice	c.e3-1	p.V142_splice		NM_024038	NP_076943	Q9BQ61	CS043_HUMAN	Homo sapiens chromosome 19 open reading frame 43 (C19orf43), mRNA.	142										endometrium(2)|large_intestine(2)	4						ACTTGTTAATACCTGTGGAAA	0.547													G	12841881	A	G	12841881	3	3	159	1	0	0	0	0	1	0	0	0	1926	405	14	4	109	4	C19orf43	19	12841881	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	6090675	12841881	46287102	109	11074											
CYP4F12	66002	broad.mit.edu	37	19	15807863	15807863	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:15807863C>T	uc002nbl.3	+	12	1662	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											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)					GCTTTGGCTGCGGGTGGAGCC	0.567													T	15807863	C	T	15807863	3	4	159	1	0	0	0	0	1	0	0	0	4187	759	27	1	1589	1	CYP4F12	19	15807863	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	2965982	15807863	43321120	110	11075											
USP29	57663	broad.mit.edu	37	19	57641232	57641232	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:57641232A>G	uc002qny.3	+	3	1545	c.1189A>G	c.(1189-1191)Act>Gct	p.T397A	USP29_uc021vci.1_Missense_Mutation_p.T397A	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	397					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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;0.026)		CACTTTGAATACTGGGAAAGA	0.383													G	57641232	A	G	57641232	3	3	159	1	0	0	0	0	1	0	0	0	17056	391	14	4	1191	4	USP29	19	57641232	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	41833369	57641232	1487751	111	11076											
MYH7B	57644	broad.mit.edu	37	20	33572918	33572918	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr20:33572918C>T	uc002xbi.2	+	12	1234	c.917C>T	c.(916-918)gCg>gTg	p.A306V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	264	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGGCATCCGCGGATATTGAC	0.642													T	33572918	C	T	33572918	3	4	159	1	0	0	0	0	1	0	0	0	10040	768	27	1	959	1	MYH7B	20	33572918	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		33572918	29452602	112	11077											
PTPRT	11122	broad.mit.edu	37	20	40911144	40911144	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr20:40911144G>A	uc002xkg.3	-	12	2345	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	PTPRT_uc010ggj.3_Missense_Mutation_p.R721C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	721	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R721H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTAGCCAGACGAACACAGTTG	0.348													A	40911144	G	A	40911144	3	1	159	1	0	0	0	0	1	0	0	0	12812	1058	37	2	2301	2	PTPRT	20	40911144	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	7338226	40911144	22114376	113	11078											
KCNE1	3753	broad.mit.edu	37	21	35821746	35821746	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr21:35821746G>T	uc021wit.1	-	0	187	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	KCNE1_uc010gmp.3_Missense_Mutation_p.L63M|KCNE1_uc002ytz.3_Missense_Mutation_p.L63M|KCNE1_uc010gmq.3_Missense_Mutation_p.L63M|KCNE1_uc010gmr.3_Missense_Mutation_p.L63M|KCNE1_uc010gms.3_Missense_Mutation_p.L63M|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	63					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	ATGTAGCTCAGCATGATGCCC	0.592													T	35821746	G	T	35821746	3	4	159	1	0	0	0	0	1	0	0	0	8021	962	34	5	206	5	KCNE1	21	35821746	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		35821746	12308149	114	11079											
KRTAP10-2	386679	broad.mit.edu	37	21	45971183	45971183	+	Silent	SNP	C	C	G			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr21:45971183C>G	uc002zfi.1	-	0	206	c.159G>C	c.(157-159)gtG>gtC	p.V53V	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	53	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						AGGGGCTGGACACACAGCTCA	0.697													G	45971183	C	G	45971183	2	3	159	1	0	0	0	0	0	0	0	1	8509	465	17	5		5	KRTAP10-2	21	45971183	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	10149437	45971183	2158712	115	11080											
OSBP2	23762	broad.mit.edu	37	22	31137202	31137202	+	Silent	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:31137202G>A	uc003aiy.1	+	1	803	c.699G>A	c.(697-699)gcG>gcA	p.A233A	OSBP2_uc011ala.1_Silent_p.A68A|OSBP2_uc010gwc.1_Silent_p.A60A|OSBP2_uc003aix.1_Silent_p.A233A|OSBP2_uc011alb.1_Silent_p.A233A|OSBP2_uc003aiz.1_Silent_p.A233A	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	233	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTCCACCGCGCACATTGACA	0.557													A	31137202	G	A	31137202	2	1	159	1	0	0	0	0	0	0	0	1	11274	1074	38	1		1	OSBP2	22	31137202	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08		31137202	20167364	116	11081											
TMPRSS6	164656	broad.mit.edu	37	22	37492125	37492125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:37492125delC	uc003aqt.1	-	4	472	c.410delG	c.(409-411)ggafs	p.G137fs	TMPRSS6_uc003aqs.1_Frame_Shift_Del_p.G146fs|TMPRSS6_uc003aqu.3_Frame_Shift_Del_p.G137fs	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	146					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGTGAGGGGTCCCTCCCTAAG	0.622													-	37492125	C	-	37492125	7	5	159	1	0	1	0	1	0	0	0	0	16248	855	30	0	2054	0	TMPRSS6	22	37492125	Frame_Shift_Del	DEL	C	TCGA-19-2629-01A-01D-1495-08	6354923	37492125	13812441	117	11082											
CYTH4	27128	broad.mit.edu	37	22	37707507	37707507	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:37707507C>T	uc003arf.3	+	10	1012	c.896C>T	c.(895-897)cCa>cTa	p.P299L	CYTH4_uc011amw.2_Missense_Mutation_p.P242L	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	299	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GACAAGGAGCCACGGGGAATT	0.582													T	37707507	C	T	37707507	3	4	159	1	0	0	0	0	1	0	0	0	4206	594	21	3	938	3	CYTH4	22	37707507	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	215382	37707507	13597059	118	11083											
DDX17	10521	broad.mit.edu	37	22	38890068	38890069	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:38890068_38890069delTT	uc003avy.4	-	8	1385_1386	c.1282_1283delAA	c.(1282-1284)aagfs	p.K428fs	DDX17_uc003avx.4_Frame_Shift_Del_p.K428fs|DDX17_uc011anu.2_Frame_Shift_Del_p.K341fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	349	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					ACAGCGTCTCTTTGTCTCCACA	0.386													-	38890069	TT	-	38890068	7	5	159	1	0	1	0	1	0	0	0	0	4344	1609	56	0	932	0	DDX17	22	38890068	Frame_Shift_Del	DEL	TT	TCGA-19-2629-01A-01D-1495-08	1182561	38890068	12414498	119	11084											
MCHR1	2847	broad.mit.edu	37	22	41077826	41077826	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:41077826G>A	uc003ayz.3	+	1	1431	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MCHR1_uc003aza.3_Missense_Mutation_p.R277H|HV452684_uc003azb.1_Non-coding_Transcript	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	388					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GAGACGTTCCGCAAACGCTTG	0.572													A	41077826	G	A	41077826	3	1	159	1	0	0	0	0	1	0	0	0	9382	1087	38	1	1169	1	MCHR1	22	41077826	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	2187758	41077826	10226740	120	11085											
ATRX	546	broad.mit.edu	37	X	76939674	76939675	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chrX:76939674_76939675delTT	uc004ecp.4	-	8	1305_1306	c.1073_1074delAA	c.(1072-1074)aaafs	p.K358fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K303fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	358					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTCAATCAGTTTTTTTGCCTT	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939675	TT	-	76939674	7	5	159	1	0	1	0	1	0	0	0	0	1208	1722	60	0	6512	0	ATRX	23	76939674	Frame_Shift_Del	DEL	TT	TCGA-19-2629-01A-01D-1495-08		76939674	78330886	121	11086											
SEPN1	57190	broad.mit.edu	37	1	26140414	26140414	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:26140414C>A	uc021ojk.1	+	10	1485	c.1430C>A	c.(1429-1431)cCc>cAc	p.P477H	SEPN1_uc021ojl.1_Missense_Mutation_p.P443H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	477						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGTTCGCCCATCCTCACC	0.612													A	26140414	C	A	26140414	3	1	160	1	0	0	0	0	1	0	0	0	14056	623	22	5	1472	5	SEPN1	1	26140414	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		26140414	223110207	1	11087											
NTNG1	22854	broad.mit.edu	37	1	107867040	107867040	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:107867040A>G	uc001dvh.4	+	2	1101	c.383A>G	c.(382-384)aAg>aGg	p.K128R	NTNG1_uc001dvc.4_Missense_Mutation_p.K128R|NTNG1_uc010out.2_Missense_Mutation_p.K128R|NTNG1_uc001dvf.4_Missense_Mutation_p.K128R|NTNG1_uc001dvd.1_Missense_Mutation_p.K128R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	128	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTATCCCAAGCCTCTCCAG	0.478													G	107867040	A	G	107867040	3	3	160	1	0	0	0	0	1	0	0	0	10704	72	3	4	389	4	NTNG1	1	107867040	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	81726626	107867040	141383581	2	11088											
AKNAD1	254268	broad.mit.edu	37	1	109395162	109395162	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:109395162T>C	uc001dwa.3	-	1	394	c.125A>G	c.(124-126)gAa>gGa	p.E42G	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	42										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ATTTAAGACTTCAAGGCCATC	0.408													C	109395162	T	C	109395162	3	2	160	1	0	0	0	0	1	0	0	0	464	1783	62	4	2445	4	AKNAD1	1	109395162	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	1528122	109395162	139855459	3	11089											
IFI16	3428	broad.mit.edu	37	1	159015232	159015232	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:159015232C>A	uc001ftg.3	+						IFI16_uc010pis.2_Missense_Mutation_p.P436Q|IFI16_uc010pit.2_Missense_Mutation_p.P492Q	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.						cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CCATCAACACCAAGCAGCAGT	0.488													A	159015232	C	A	159015232	3	1	160	1	0	0	0	0	1	0	0	0	7511	609	21	5		5	IFI16	1	159015232	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	49620070	159015232	90235389	4	11090											
IGSF9	57549	broad.mit.edu	37	1	159897140	159897140	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:159897140G>A	uc001fur.2	-	20	3733	c.3535C>T	c.(3535-3537)Ctg>Ttg	p.L1179L	IGSF9_uc001fuq.2_Silent_p.L1163L|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.L325L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1179						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGTTCACAGCAGAGTGGCC	0.607													A	159897140	G	A	159897140	2	1	160	1	0	0	0	0	0	0	0	1	7605	962	34	3		3	IGSF9	1	159897140	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	881908	159897140	89353481	5	11091											
FMO3	2328	broad.mit.edu	37	1	171077238	171077238	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:171077238G>A	uc001ghi.3	+	4	614	c.503G>A	c.(502-504)gGc>gAc	p.G168D	FMO3_uc001ghh.3_Missense_Mutation_p.G168D|FMO3_uc010pmb.2_Missense_Mutation_p.G148D|FMO3_uc010pmc.2_Missense_Mutation_p.G105D	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	168					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACTTTAAAGGCAAATGCTTC	0.423													A	171077238	G	A	171077238	3	1	160	1	0	0	0	0	1	0	0	0	5956	1203	42	3	517	3	FMO3	1	171077238	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	11180098	171077238	78173383	6	11092											
OR14A16	284532	broad.mit.edu	37	1	247978223	247978223	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:247978223A>G	uc001idm.1	-	0	809	c.809T>C	c.(808-810)gTa>gCa	p.V270A		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACAGAAATTACAGCATCCAA	0.413													G	247978223	A	G	247978223	3	3	160	1	0	0	0	0	1	0	0	0	10945	391	14	4	124	4	OR14A16	1	247978223	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	76900985	247978223	1272398	7	11093											
CTNNA2	1496	broad.mit.edu	37	2	80874750	80874750	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:80874750T>C	uc010ysh.2	+	17	2620	c.2615T>C	c.(2614-2616)cTg>cCg	p.L872P	CTNNA2_uc010yse.2_Missense_Mutation_p.L824P|CTNNA2_uc010ysf.2_Missense_Mutation_p.L824P|CTNNA2_uc010ysg.2_Missense_Mutation_p.L779P|CTNNA2_uc010ysi.2_Missense_Mutation_p.L456P|CTNNA2_uc010ysj.2_Missense_Mutation_p.L153P	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	872					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTAAAAACCTGATGAATGCT	0.468													C	80874750	T	C	80874750	3	2	160	1	0	0	0	0	1	0	0	0	4013	1580	55	4	2329	4	CTNNA2	2	80874750	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08		80874750	162324623	8	11094											
RGPD4	285190	broad.mit.edu	37	2	108455335	108455335	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:108455335A>T	uc010ywk.2	+	3	402	c.320A>T	c.(319-321)aAt>aTt	p.N107I	RGPD4_uc002tdu.3_5'UTR	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	107					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTTTGTAAAAATGATGTTACT	0.333													T	108455335	A	T	108455335	3	4	160	1	0	0	0	0	1	0	0	0	13288	101	4	5	334	5	RGPD4	2	108455335	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	27580585	108455335	134744038	9	11095											
SCN9A	6335	broad.mit.edu	37	2	167159653	167159653	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:167159653T>C	uc010fpl.3	-	6	1189	c.848A>G	c.(847-849)aAt>aGt	p.N283S	SCN9A_uc002udr.1_Missense_Mutation_p.N154S|SCN9A_uc002uds.1_Missense_Mutation_p.N154S|SCN9A_uc002udt.1_Missense_Mutation_p.N154S	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	283						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAATGTTTCATTATTTTCAAG	0.338													C	167159653	T	C	167159653	3	2	160	1	0	0	0	0	1	0	0	0	13925	1493	52	4	5169	4	SCN9A	2	167159653	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	58704318	167159653	76039720	10	11096											
ZSWIM2	151112	broad.mit.edu	37	2	187713851	187713851	+	Missense_Mutation	SNP	G	G	T	rs34437613		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:187713851G>T	uc002upu.1	-	0	47	c.7C>A	c.(7-9)Cgc>Agc	p.R3S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	3					apoptosis		zinc ion binding	p.R3L(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)			TAGCCTCGGCGAAGCATGCTG	0.642													T	187713851	G	T	187713851	3	4	160	1	0	0	0	0	1	0	0	0	18238	1058	37	5	1930	5	ZSWIM2	2	187713851	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	20554198	187713851	55485522	11	11097											
FAM126B	285172	broad.mit.edu	37	2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	rs138872845		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:201846441C>T	uc002uws.4	-	11	1333	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	FAM126B_uc002uwu.3_Missense_Mutation_p.R356H|FAM126B_uc002uwv.3_Missense_Mutation_p.R382H	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	382						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493													T	201846441	C	T	201846441	3	4	160	1	0	0	0	0	1	0	0	0	5430	536	19	1	451	1	FAM126B	2	201846441	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	14132590	201846441	41352932	12	11098											
ZDBF2	57683	broad.mit.edu	37	2	207176262	207176262	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:207176262G>A	uc002vbp.2	+	4	7260	c.7010G>A	c.(7009-7011)cGt>cAt	p.R2337H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2337							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTACAACAACGTGAGAGAATG	0.428													A	207176262	G	A	207176262	3	1	160	1	0	0	0	0	1	0	0	0	17596	1145	40	1	7020	1	ZDBF2	2	207176262	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	5329821	207176262	36023111	13	11099											
CHRND	1144	broad.mit.edu	37	2	233394744	233394744	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:233394744T>C	uc002vsw.3	+	6	719	c.715T>C	c.(715-717)Tac>Cac	p.Y239H	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.Y224H|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	239					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			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)		CATCACCTTCTACCTCATCAT	0.612													C	233394744	T	C	233394744	3	2	160	1	0	0	0	0	1	0	0	0	3394	1522	53	4	741	4	CHRND	2	233394744	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	26218482	233394744	9804629	14	11100											
ATG4B	23192	broad.mit.edu	37	2	242592988	242592988	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:242592988C>G	uc002wbv.3	+	3	349	c.246C>G	c.(244-246)atC>atG	p.I82M	ATG4B_uc002wbu.3_Missense_Mutation_p.I8M|ATG4B_uc002wbw.3_Missense_Mutation_p.I82M|ATG4B_uc010zox.2_Missense_Mutation_p.I68M|ATG4B_uc010zoy.2_Missense_Mutation_p.I8M|ATG4B_uc010fzp.3_Missense_Mutation_p.I82M|ATG4B_uc010zoz.2_Missense_Mutation_p.I8M	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA.	82					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	p.I82M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GACAGATGATCTTTGCCCAAG	0.642													G	242592988	C	G	242592988	3	3	160	1	0	0	0	0	1	0	0	0	1097	903	32	5	260	5	ATG4B	2	242592988	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	9198244	242592988	606385	15	11101											
ZFYVE20	64145	broad.mit.edu	37	3	15123959	15123959	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:15123959C>A	uc003bzm.1	-	8	1369	c.755G>T	c.(754-756)tGt>tTt	p.C252F	ZFYVE20_uc010hek.1_Missense_Mutation_p.C252F|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	252	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GCAGTGTGTACAGCAGCGGAT	0.572													A	15123959	C	A	15123959	3	1	160	1	0	0	0	0	1	0	0	0	17663	478	17	5	1623	5	ZFYVE20	3	15123959	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		15123959	182898471	16	11102											
FLNB	2317	broad.mit.edu	37	3	58141766	58141766	+	Silent	SNP	C	C	T	rs113304692		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:58141766C>T	uc003djj.2	+	40	7017	c.6852C>T	c.(6850-6852)tcC>tcT	p.S2284S	FLNB_uc010hne.2_Silent_p.S2315S|FLNB_uc003djk.2_Silent_p.S2273S|FLNB_uc010hnf.2_Silent_p.S2260S|FLNB_uc003djl.2_Silent_p.S2104S|FLNB_uc003djm.2_Silent_p.S2091S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2284	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCGCACCCTCCGACGACGCCC	0.587													T	58141766	C	T	58141766	2	4	160	1	0	0	0	0	0	0	0	1	5934	639	23	2		2	FLNB	3	58141766	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	43017807	58141766	139880664	17	11103											
ROBO1	6091	broad.mit.edu	37	3	78711202	78711202	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:78711202C>T	uc003dqe.2	-	14	2237	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	ROBO1_uc003dqc.2_Missense_Mutation_p.V641I|ROBO1_uc003dqd.2_Missense_Mutation_p.V641I|ROBO1_uc003dqb.2_Missense_Mutation_p.V638I|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.V249I|ROBO1_uc003dqf.1_Missense_Mutation_p.V356I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	677	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.V654F(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGTGCAGAACAGCATTTCCC	0.483													T	78711202	C	T	78711202	3	4	160	1	0	0	0	0	1	0	0	0	13513	478	17	3	2994	3	ROBO1	3	78711202	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	20569436	78711202	119311228	18	11104											
OR5H1	26341	broad.mit.edu	37	3	97851558	97851558	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:97851558C>G	uc011bgt.2	+	0	17	c.17C>G	c.(16-18)gCa>gGa	p.A6G		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GAGGAAAATGCAACATTGCTG	0.393													G	97851558	C	G	97851558	3	3	160	1	0	0	0	0	1	0	0	0	11159	710	25	5	19	5	OR5H1	3	97851558	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	19140356	97851558	100170872	19	11105											
CEP70	80321	broad.mit.edu	37	3	138216906	138216906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:138216906G>A	uc003esl.3	-	16	1897	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*	CEP70_uc011bmk.2_Nonsense_Mutation_p.Q547*|CEP70_uc011bml.2_Nonsense_Mutation_p.Q549*|CEP70_uc011bmm.2_Nonsense_Mutation_p.Q415*	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	567					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTAAATGCCTGAAATGCTGGG	0.343													A	138216906	G	A	138216906	4	1	160	1	0	0	0	0	0	1	0	0	3259	1299	45	3	102	3	CEP70	3	138216906	Nonsense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	40365348	138216906	59805524	20	11106											
NAALADL2	254827	broad.mit.edu	37	3	174814645	174814645	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:174814645G>A	uc003fit.3	+	1	196	c.109G>A	c.(109-111)Gac>Aac	p.D37N	NAALADL2_uc003fiu.1_Missense_Mutation_p.D30N	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	37					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACAGTACTTAGACAATGATGA	0.413													A	174814645	G	A	174814645	3	1	160	1	0	0	0	0	1	0	0	0	10130	942	33	3	115	3	NAALADL2	3	174814645	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	36597739	174814645	23207785	21	11107											
PDGFRA	5156	broad.mit.edu	37	4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:55131142G>A	uc003han.4	+	4	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	229	Ig-like C2-type 3.				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			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)	TAAGTCAGGGGAAACGATTGT	0.423			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55131142	G	A	55131142	3	1	160	1	0	0	0	0	1	0	0	0	11661	1175	41	3	699	3	PDGFRA	4	55131142	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		55131142	136023134	22	11108											
LRBA	987	broad.mit.edu	37	4	151357950	151357950	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:151357950C>A	uc010ipj.3	-	45	7124	c.6880G>T	c.(6880-6882)Gat>Tat	p.D2294Y	LRBA_uc010ipi.3_5'UTR|LRBA_uc003ils.4_Missense_Mutation_p.D184Y|LRBA_uc003ilt.4_Missense_Mutation_p.D942Y|LRBA_uc003ilu.4_Missense_Mutation_p.D2283Y	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2294	BEACH.					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)					GGAACTTGATCATCTTCCCAT	0.388													A	151357950	C	A	151357950	3	1	160	1	0	0	0	0	1	0	0	0	8931	826	29	5	1763	5	LRBA	4	151357950	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	96226808	151357950	39796326	23	11109											
FGG	2266	broad.mit.edu	37	4	155528109	155528109	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:155528109C>T	uc003ioj.3	-	7	1018	c.877G>A	c.(877-879)Gtg>Atg	p.V293M	FGG_uc003iog.3_Missense_Mutation_p.V293M	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	293	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCAGGTCCCACCTTGAACATG	0.493													T	155528109	C	T	155528109	3	4	160	1	0	0	0	0	1	0	0	0	5870	507	18	3	511	3	FGG	4	155528109	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	4170159	155528109	35626167	24	11110											
SPEF2	79925	broad.mit.edu	37	5	35659271	35659271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:35659271C>T	uc003jjo.3	+	7	1240	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	SPEF2_uc003jjn.1_Nonsense_Mutation_p.R377*|SPEF2_uc003jjq.4_Nonsense_Mutation_p.R377*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	377					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R377*(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)			TGAGGAAAGACGACTTAAAGA	0.408													T	35659271	C	T	35659271	4	4	160	1	0	0	0	0	0	1	0	0	15034	528	19	1	1159	1	SPEF2	5	35659271	Nonsense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		35659271	145255989	25	11111											
ITGA1	3672	broad.mit.edu	37	5	52145207	52145207	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:52145207C>T	uc003jou.3	+	1	484	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	24					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGTTGTTCTACGCTGCTGCGT	0.373													T	52145207	C	T	52145207	3	4	160	1	0	0	0	0	1	0	0	0	7872	536	19	1	76	1	ITGA1	5	52145207	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	16485936	52145207	128770053	26	11112											
ANKRD34B	340120	broad.mit.edu	37	5	79855139	79855139	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:79855139C>T	uc010jam.3	-	3	1050	c.700G>A	c.(700-702)Gca>Aca	p.A234T	ANKRD34B_uc003kgw.3_Missense_Mutation_p.A234T|ANKRD34B_uc010jan.3_Missense_Mutation_p.A234T|ANKRD34B_uc021yax.1_Missense_Mutation_p.A234T	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	234						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GGGGCCAATGCAGGTTTCCTC	0.522													T	79855139	C	T	79855139	3	4	160	1	0	0	0	0	1	0	0	0	663	710	25	3	848	3	ANKRD34B	5	79855139	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	27709932	79855139	101060121	27	11113											
SLCO4C1	353189	broad.mit.edu	37	5	101585466	101585466	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:101585466G>A	uc003knm.3	-	8	1783	c.1496C>T	c.(1495-1497)gCc>gTc	p.A499V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	499	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTACAAGGGGCTATCAAGTT	0.373													A	101585466	G	A	101585466	3	1	160	1	0	0	0	0	1	0	0	0	14730	1203	42	3	698	3	SLCO4C1	5	101585466	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	21730327	101585466	79329794	28	11114											
TXNDC15	79770	broad.mit.edu	37	5	134223439	134223439	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:134223439A>G	uc003lac.1	+	1	816	c.158A>G	c.(157-159)cAg>cGg	p.Q53R	TXNDC15_uc010jdy.1_Intron	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.	53					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCCTCTCCAGGTGGGGGCT	0.567													G	134223439	A	G	134223439	3	3	160	1	0	0	0	0	1	0	0	0	16791	188	7	4	164	4	TXNDC15	5	134223439	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	32637973	134223439	46691821	29	11115											
CDC23	8697	broad.mit.edu	37	5	137548883	137548883	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:137548883G>A	uc003lcl.3	-	0	150	c.119C>T	c.(118-120)gCg>gTg	p.A40V	CDC23_uc003lcm.1_Missense_Mutation_p.A40V	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|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|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAAGGCCCGCAATAAGCAG	0.572													A	137548883	G	A	137548883	3	1	160	1	0	0	0	0	1	0	0	0	3061	1087	38	1	1738	1	CDC23	5	137548883	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	3325444	137548883	43366377	30	11116											
FAM53C	51307	broad.mit.edu	37	5	137682463	137682463	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:137682463A>G	uc003lcv.3	+	4	1464	c.994A>G	c.(994-996)Atg>Gtg	p.M332V	FAM53C_uc003lcw.3_Missense_Mutation_p.M332V|FAM53C_uc011cyq.2_Non-coding_Transcript|FAM53C_uc011cyr.2_3'UTR	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	332										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACCATGGTTCATGGCCTGTAG	0.572													G	137682463	A	G	137682463	3	3	160	1	0	0	0	0	1	0	0	0	5581	217	8	4	1008	4	FAM53C	5	137682463	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	133580	137682463	43232797	31	11117											
PCDHAC2	56147	broad.mit.edu	37	5	140167728	140167728	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:140167728C>T	uc003lhb.2	+	0	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.A618V	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCGGCGCGCGCATCCCG	0.672													T	140167728	C	T	140167728	3	4	160	1	0	0	0	0	1	0	0	0	11533	768	27	1		1	PCDHAC2	5	140167728	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	2485265	140167728	40747532	32	11118											
PCDHB7	56129	broad.mit.edu	37	5	140553181	140553181	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:140553181C>T	uc003lit.3	+	0	939	c.765C>T	c.(763-765)agC>agT	p.S255S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	255	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAAAATAGCCCCGTTGGTT	0.507													T	140553181	C	T	140553181	2	4	160	1	0	0	0	0	0	0	0	1	11547	738	26	3		3	PCDHB7	5	140553181	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	385453	140553181	40362079	33	11119											
SLC34A1	6569	broad.mit.edu	37	5	176815108	176815108	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:176815108C>A	uc003mgk.4	+	6	862	c.758C>A	c.(757-759)gCc>gAc	p.A253D	SLC34A1_uc021yis.1_Missense_Mutation_p.A253D	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	253					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CTTGTGGTGGCCTCCTTCAAC	0.592													A	176815108	C	A	176815108	3	1	160	1	0	0	0	0	1	0	0	0	14567	739	26	5	780	5	SLC34A1	5	176815108	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	36261927	176815108	4100152	34	11120											
FLT4	2324	broad.mit.edu	37	5	180048821	180048821	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:180048821C>T	uc003mlz.4	-	12	1820	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	FLT4_uc003mma.4_Missense_Mutation_p.D581N|FLT4_uc003mmb.1_Missense_Mutation_p.D114N|FLT4_uc011dgy.2_Missense_Mutation_p.D581N	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	581	Ig-like C2-type 6.				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)	TTGTAGCTGTCGGCTTGGCAG	0.617													T	180048821	C	T	180048821	3	4	160	1	0	0	0	0	1	0	0	0	5944	884	31	2	2430	2	FLT4	5	180048821	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	3233713	180048821	866439	35	11121											
NKAPL	222698	broad.mit.edu	37	6	28227888	28227888	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:28227888G>A	uc003nkt.3	+	0	791	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	247										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AACCAAAAAAGAATCCAGTGA	0.368													A	28227888	G	A	28227888	3	1	160	1	0	0	0	0	1	0	0	0	10440	943	33	3	741	3	NKAPL	6	28227888	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		28227888	142887179	36	11122											
PKHD1	5314	broad.mit.edu	37	6	51768472	51768472	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:51768472C>T	uc003pah.1	-	42	7195	c.6919G>A	c.(6919-6921)Ggt>Agt	p.G2307S	PKHD1_uc010jzn.1_Missense_Mutation_p.G290S|PKHD1_uc003pai.3_Missense_Mutation_p.G2307S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2307					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			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)					CCCTCGGCACCAGAAACCTGG	0.418													T	51768472	C	T	51768472	3	4	160	1	0	0	0	0	1	0	0	0	11971	594	21	3	5444	3	PKHD1	6	51768472	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	23540584	51768472	119346595	37	11123											
BMP5	653	broad.mit.edu	37	6	55638880	55638880	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:55638880G>A	uc003pcq.3	-	3	1706	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	BMP5_uc011dxf.2_Missense_Mutation_p.H332Y	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	332					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGTCCTGATGAGAGCTGGAT	0.468													A	55638880	G	A	55638880	3	1	160	1	0	0	0	0	1	0	0	0	1463	1290	45	3	386	3	BMP5	6	55638880	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	3870408	55638880	115476187	38	11124											
BEND6	221336	broad.mit.edu	37	6	56883316	56883316	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:56883316C>G	uc010kab.3	+	5	1396	c.810C>G	c.(808-810)agC>agG	p.S270R	BEND6_uc003pdi.4_Missense_Mutation_p.S172R	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	270	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATTTAAGCAAAAATCTTA	0.313													G	56883316	C	G	56883316	3	3	160	1	0	0	0	0	1	0	0	0	1402	709	25	5	828	5	BEND6	6	56883316	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	1244436	56883316	114231751	39	11125											
KHDRBS2	202559	broad.mit.edu	37	6	62611257	62611257	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:62611257C>T	uc003peg.2	-	4	750	c.503G>A	c.(502-504)cGt>cAt	p.R168H		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGTTCCTGACGAATTTCATC	0.403													T	62611257	C	T	62611257	3	4	160	1	0	0	0	0	1	0	0	0	8147	536	19	1	566	1	KHDRBS2	6	62611257	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	5727941	62611257	108503810	40	11126											
SNAP91	9892	broad.mit.edu	37	6	84303343	84303343	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:84303343G>C	uc021zcf.1	-	16	1580	c.1550C>G	c.(1549-1551)cCa>cGa	p.P517R	SNAP91_uc011dzd.2_Missense_Mutation_p.P20R|SNAP91_uc003pka.3_Missense_Mutation_p.P515R|SNAP91_uc011dze.2_Missense_Mutation_p.P515R|SNAP91_uc003pkc.3_Missense_Mutation_p.P515R|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.P480R	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	517	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGCGGGAACTGGAGGGGCTGT	0.607													C	84303343	G	C	84303343	3	2	160	1	0	0	0	0	1	0	0	0	14833	1348	47	5	1221	5	SNAP91	6	84303343	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	21692086	84303343	86811724	41	11127											
MAP3K7	6885	broad.mit.edu	37	6	91266234	91266234	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:91266234G>A	uc003pnz.1	-	5	897	c.592C>T	c.(592-594)Cct>Tct	p.P198S	MAP3K7_uc003pob.1_Missense_Mutation_p.P198S|MAP3K7_uc003poa.1_Missense_Mutation_p.P198S|MAP3K7_uc003poc.1_Missense_Mutation_p.P198S	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	198	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAACTTCAGGTGCCATCCAA	0.403													A	91266234	G	A	91266234	3	1	160	1	0	0	0	0	1	0	0	0	9255	1261	44	3	1276	3	MAP3K7	6	91266234	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	6962891	91266234	79848833	42	11128											
SEPT7	989	broad.mit.edu	37	7	35942771	35942771	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:35942771A>G	uc010kxc.3	+	11	1438	c.1214A>G	c.(1213-1215)gAg>gGg	p.E405G	SEPT7_uc011kat.2_Missense_Mutation_p.E405G|SEPT7_uc011kau.2_Missense_Mutation_p.E371G|SEPT7_uc011kav.2_Missense_Mutation_p.E354G	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	407					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TTCGAGGATGAGAAAGCAAAC	0.383													G	35942771	A	G	35942771	3	3	160	1	0	0	0	0	1	0	0	0	14069	304	11	4	1264	4	SEPT7	7	35942771	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		35942771	123195892	43	11129											
SRRT	51593	broad.mit.edu	37	7	100485931	100485931	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:100485931C>G	uc003uwy.2	+	18	2749	c.2482C>G	c.(2482-2484)Ccg>Gcg	p.P828A	SRRT_uc010lhl.1_Missense_Mutation_p.P827A|SRRT_uc003uxa.2_Missense_Mutation_p.P823A|SRRT_uc003uwz.2_Missense_Mutation_p.P824A|DJ051769_uc010lhm.1_5'Flank	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	828	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.P828Q(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCCCATGCCCCGTATGGTGC	0.577													G	100485931	C	G	100485931	3	3	160	1	0	0	0	0	1	0	0	0	15171	623	22	5	2552	5	SRRT	7	100485931	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	64543160	100485931	58652732	44	11130											
LAMB4	22798	broad.mit.edu	37	7	107708521	107708521	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:107708521C>T	uc010ljo.1	-	18	2470	c.2386G>A	c.(2386-2388)Ggg>Agg	p.G796R	LAMB4_uc003vey.2_Missense_Mutation_p.G796R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	796	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGCAGCGCCCGACCACAAGA	0.567													T	107708521	C	T	107708521	3	4	160	1	0	0	0	0	1	0	0	0	8613	652	23	2	2963	2	LAMB4	7	107708521	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	7222590	107708521	51430142	45	11131											
GPR85	54329	broad.mit.edu	37	7	112724397	112724397	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:112724397C>T	uc010ljv.2	-	1	897	c.380G>A	c.(379-381)cGc>cAc	p.R127H	GPR85_uc003vgp.1_Missense_Mutation_p.R127H|GPR85_uc003vgq.2_Missense_Mutation_p.R127H|GPR85_uc010ljw.1_Missense_Mutation_p.R127H|GPR85_uc022akd.1_Missense_Mutation_p.R127H	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	127						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGTATAGAAGCGGTGATGGGC	0.493													T	112724397	C	T	112724397	3	4	160	1	0	0	0	0	1	0	0	0	6715	768	27	1	736	1	GPR85	7	112724397	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	5015876	112724397	46414266	46	11132											
GRM8	2918	broad.mit.edu	37	7	126173579	126173579	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:126173579G>A	uc003vlr.2	-	7	2168	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.R619R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	619					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R619R(2)|p.R619L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)			A	126173579	G	A	126173579	2	1	160	1	0	0	0	0	0	0	0	1	6803	1074	38	1		1	GRM8	7	126173579	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	13449182	126173579	32965084	47	11133											
CALD1	800	broad.mit.edu	37	7	134618735	134618735	+	Silent	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:134618735A>G	uc003vrz.3	+	4	1681	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Silent_p.K269K	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	405					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			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						CAAAGATAAAAGGGGAAAAGG	0.418													G	134618735	A	G	134618735	2	3	160	1	0	0	0	0	0	0	0	1	2581	69	3	4		4	CALD1	7	134618735	Silent	SNP	A	TCGA-19-2631-01A-01D-1353-08	8445156	134618735	24519928	48	11134											
ADAM2	2515	broad.mit.edu	37	8	39626970	39626970	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:39626970C>A	uc003xnj.3	-	11	1228	c.1153G>T	c.(1153-1155)Gca>Tca	p.A385S	ADAM2_uc003xnk.3_Missense_Mutation_p.A366S|ADAM2_uc011lck.2_Missense_Mutation_p.A385S|ADAM2_uc003xnl.3_Missense_Mutation_p.A259S	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	385	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A385V(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCACACACTGCTTGCTGTTTG	0.448													A	39626970	C	A	39626970	3	1	160	1	0	0	0	0	1	0	0	0	241	797	28	5	1090	5	ADAM2	8	39626970	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		39626970	106737052	49	11135											
TMEM55A	55529	broad.mit.edu	37	8	92007945	92007945	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:92007945C>T	uc003yes.3	-	6	960	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	245						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TCTTATGGCTCCCCAATAACA	0.438													T	92007945	C	T	92007945	3	4	160	1	0	0	0	0	1	0	0	0	16178	855	30	3	43	3	TMEM55A	8	92007945	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	52380975	92007945	54356077	50	11136											
TRPS1	7227	broad.mit.edu	37	8	116430676	116430676	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:116430676C>T	uc003yny.3	-	5	3283	c.2705G>A	c.(2704-2706)cGt>cAt	p.R902H	TRPS1_uc011lhy.2_Missense_Mutation_p.R893H|TRPS1_uc003ynz.3_Missense_Mutation_p.R889H|TRPS1_uc010mcy.3_Missense_Mutation_p.R889H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	889					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			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)			GGAGCCTCTACGCCTCTGAAA	0.478									Langer-Giedion syndrome				T	116430676	C	T	116430676	3	4	160	1	0	0	0	0	1	0	0	0	16590	536	19	1	1187	1	TRPS1	8	116430676	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	24422731	116430676	29933346	51	11137											
RANBP6	26953	broad.mit.edu	37	9	6012502	6012502	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:6012502T>G	uc003zjr.3	-	0	3139	c.3106A>C	c.(3106-3108)Att>Ctt	p.I1036L	RANBP6_uc011lmf.2_Missense_Mutation_p.I684L|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	1036					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTTGGACCAATTACAACTGGG	0.368													G	6012502	T	G	6012502	3	3	160	1	0	0	0	0	1	0	0	0	13031	1493	52	5	215	5	RANBP6	9	6012502	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08		6012502	135200929	52	11138											
C9orf41	138199	broad.mit.edu	37	9	77631261	77631261	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:77631261T>G	uc004ajq.3	-	2	666	c.513A>C	c.(511-513)gaA>gaC	p.E171D	C9orf41_uc011lsi.1_Non-coding_Transcript	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CTTTCCCAGTTTCACTCCAGT	0.353													G	77631261	T	G	77631261	3	3	160	1	0	0	0	0	1	0	0	0	2482	1838	64	5	740	5	C9orf41	9	77631261	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	71618759	77631261	63582170	53	11139											
TLE1	7088	broad.mit.edu	37	9	84200544	84200544	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:84200544G>A	uc004alz.3	-	17	2475	c.2034C>T	c.(2032-2034)acC>acT	p.T678T	TLE1_uc004aly.3_Silent_p.T668T|TLE1_uc011lsr.2_Silent_p.T653T	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	668					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCACTCCCCGGTGGGGCAGT	0.557													A	84200544	G	A	84200544	2	1	160	1	0	0	0	0	0	0	0	1	15935	1103	39	2		2	TLE1	9	84200544	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	6569283	84200544	57012887	54	11140											
FAM22F	54754	broad.mit.edu	37	9	97081002	97081002	+	Silent	SNP	G	G	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:97081002G>T	uc004aup.1	-	6	2037	c.2016C>A	c.(2014-2016)ccC>ccA	p.P672P		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	672										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				GAGCTCCCTGGGGTCCTCTCC	0.607													T	97081002	G	T	97081002	2	4	160	1	0	0	0	0	0	0	0	1	5545	1219	43	5		5	FAM22F	9	97081002	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	12880458	97081002	44132429	55	11141											
FAM22G	441457	broad.mit.edu	37	9	99694201	99694201	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:99694201G>A	uc022bkp.1	+	1	235	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	FAM22G_uc004awq.2_Missense_Mutation_p.G72S	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	72										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				GGATGGCCGCGGCCCAAGTGG	0.642													A	99694201	G	A	99694201	3	1	160	1	0	0	0	0	1	0	0	0	5546	1116	39	2	220	2	FAM22G	9	99694201	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	2613199	99694201	41519230	56	11142											
ANKRD26	22852	broad.mit.edu	37	10	27324683	27324683	+	Splice_Site	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:27324683T>C	uc009xku.1	-	24	2870	c.2698_splice	c.e24-1	p.N900_splice	ANKRD26_uc001itg.2_Splice_Site_p.N586_splice|ANKRD26_uc001ith.2_Splice_Site_p.N899_splice	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	899						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATGAGAATTCTAAGTAAAACA	0.313													C	27324683	T	C	27324683	5	2	160	1	0	0	0	0	0	0	1	0	654	1536	53	4	2480	4	ANKRD26	10	27324683	Splice_Site	SNP	T	TCGA-19-2631-01A-01D-1353-08		27324683	108210064	57	11143											
TLL2	7093	broad.mit.edu	37	10	98173027	98173027	+	Missense_Mutation	SNP	C	C	T	rs61743696		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:98173027C>T	uc001kml.2	-	7	1211	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	TLL2_uc009xvf.2_Missense_Mutation_p.V272I	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	324	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G323G(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTGGCCTGACGCCATTGTCA	0.522													T	98173027	C	T	98173027	3	4	160	1	0	0	0	0	1	0	0	0	15943	536	19	1	2133	1	TLL2	10	98173027	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	70848344	98173027	37361720	58	11144											
LOC729020	729020	broad.mit.edu	37	10	105005929	105005929	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:105005929A>G	uc009xxi.2	+	0	286	c.176A>G	c.(175-177)aAg>aGg	p.K59R	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	59					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										AGCCTTCGAAAGCAGCTAGGC	0.498													G	105005929	A	G	105005929	3	3	160	1	0	0	0	0	1	0	0	0	8888	72	3	4	178	4	LOC729020	10	105005929	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	6832902	105005929	30528818	59	11145											
INS-IGF2	3630	broad.mit.edu	37	11	2181187	2181187	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:2181187G>C	uc021qcd.1	-	1	466	c.228C>G	c.(226-228)agC>agG	p.S76R	IGF2_uc001lvi.3_Intron|INS-IGF2_uc001lvm.3_Intron|INS-IGF2_uc001lvo.1_Missense_Mutation_p.S76R|INS-IGF2_uc001lvn.2_Missense_Mutation_p.S76R|INS-IGF2_uc009ydg.1_Missense_Mutation_p.S64R	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Homo sapiens insulin (INS), transcript variant 3, mRNA.	0					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		AGGGCTGCAGGCTGCCTGCAC	0.662													C	2181187	G	C	2181187	3	2	160	1	0	0	0	0	1	0	0	0	7763	1194	42	5		5	INS-IGF2	11	2181187	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		2181187	132825329	60	11146											
CCKBR	887	broad.mit.edu	37	11	6291993	6291993	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:6291993C>T	uc001mcp.3	+	3	1026	c.771C>T	c.(769-771)agC>agT	p.S257S	CCKBR_uc001mcq.3_Silent_p.S185S|CCKBR_uc001mcr.3_Silent_p.S257S|CCKBR_uc001mcs.3_Silent_p.S257S|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	257					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.D256N(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACAGTGACAGCGACAGCCAAA	0.622													T	6291993	C	T	6291993	2	4	160	1	0	0	0	0	0	0	0	1	2881	767	27	1		1	CCKBR	11	6291993	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	4110806	6291993	128714523	61	11147											
RAG1	5896	broad.mit.edu	37	11	36595309	36595309	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:36595309C>T	uc021qgb.1	+	0	455	c.455C>T	c.(454-456)cCg>cTg	p.P152L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.P152L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	152	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACTTCCTGGCCGGACCTCATT	0.507									Familial Hemophagocytic Lymphohistiocytosis				T	36595309	C	T	36595309	3	4	160	1	0	0	0	0	1	0	0	0	13003	652	23	2	457	2	RAG1	11	36595309	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	30303316	36595309	98411207	62	11148											
ACCSL	390110	broad.mit.edu	37	11	44077630	44077630	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:44077630delA	uc001mxw.1	+	9	1236	c.1180delA	c.(1180-1182)agtfs	p.S394fs	ACCSL_uc009ykr.2_Frame_Shift_Del_p.S213fs	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	394							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.T393S(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTGGGGTACCAGTAAGGTGAG	0.443													-	44077630	A	-	44077630	7	5	160	1	0	1	0	1	0	0	0	0	134	188	7	0	1218	0	ACCSL	11	44077630	Frame_Shift_Del	DEL	A	TCGA-19-2631-01A-01D-1353-08	7482321	44077630	90928886	63	11149											
CREB3L1	90993	broad.mit.edu	37	11	46341859	46341859	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:46341859T>C	uc021qil.1	+	10	1738	c.1303T>C	c.(1303-1305)Tgg>Cgg	p.W435R	CREB3L1_uc021qik.1_Missense_Mutation_p.W435R|CREB3L1_uc001ncg.3_Missense_Mutation_p.W69R	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	435					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GGCAGGCTTATGGGAAGATGG	0.652			T	FUS	myxofibrosarcoma								C	46341859	T	C	46341859	3	2	160	1	0	0	0	0	1	0	0	0	3856	1464	51	4	1345	4	CREB3L1	11	46341859	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	2264229	46341859	88664657	64	11150											
OR5A1	219982	broad.mit.edu	37	11	59211096	59211096	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:59211096A>T	uc001nnx.1	+	0	455	c.455A>T	c.(454-456)tAt>tTt	p.Y152F		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A151S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTTGGGGCATATGTTGGTGGC	0.547													T	59211096	A	T	59211096	3	4	160	1	0	0	0	0	1	0	0	0	11139	449	16	5	457	5	OR5A1	11	59211096	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	12869237	59211096	75795420	65	11151											
CABP4	57010	broad.mit.edu	37	11	67225877	67225877	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:67225877G>A	uc001olo.3	+	4	764	c.687G>A	c.(685-687)gcG>gcA	p.A229A	CABP4_uc001oln.3_Silent_p.A124A	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	229	EF-hand 3.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TTACGGTGGCGGAGCTGCGGG	0.652													A	67225877	G	A	67225877	2	1	160	1	0	0	0	0	0	0	0	1	2533	1103	39	2		2	CABP4	11	67225877	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	8014781	67225877	67780639	66	11152											
APOBEC1	339	broad.mit.edu	37	12	7803627	7803627	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:7803627T>C	uc001qtb.3	-	3	587	c.553A>G	c.(553-555)Ata>Gta	p.I185V	APOBEC1_uc001qtc.3_Missense_Mutation_p.I140V	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	185	Leu-rich.				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACTAGAATTATGCAGTGCAGC	0.433													C	7803627	T	C	7803627	3	2	160	1	0	0	0	0	1	0	0	0	787	1464	51	4	165	4	APOBEC1	12	7803627	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08		7803627	126048268	67	11153											
PRB1	5542	broad.mit.edu	37	12	11506566	11506566	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:11506566C>T	uc001qzw.1	-	3	505	c.468G>A	c.(466-468)aaG>aaA	p.K156K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	157	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597													T	11506566	C	T	11506566	2	4	160	1	0	0	0	0	0	0	0	1	12442	796	28	3		3	PRB1	12	11506566	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	3702939	11506566	122345329	68	11154											
KRT75	9119	broad.mit.edu	37	12	52828035	52828035	+	Silent	SNP	G	G	A	rs140932366		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:52828035G>A	uc001saj.2	-	0	76	c.54C>T	c.(52-54)agC>agT	p.S18S		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	18	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCGAGGTGGTGCTGAAGCCCC	0.672													A	52828035	G	A	52828035	2	1	160	1	0	0	0	0	0	0	0	1	8488	1310	46	3		3	KRT75	12	52828035	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	41321469	52828035	81023860	69	11155											
OR6C68	403284	broad.mit.edu	37	12	55886262	55886262	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:55886262T>A	uc010spo.2	+	0	116	c.116T>A	c.(115-117)aTg>aAg	p.M39K		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATCACCTACATGTTGAGTGTA	0.398													A	55886262	T	A	55886262	3	1	160	1	0	0	0	0	1	0	0	0	11196	1464	51	5	118	5	OR6C68	12	55886262	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	3058227	55886262	77965633	70	11156											
FAM19A2	338811	broad.mit.edu	37	12	62148677	62148677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:62148677G>A	uc001sqw.3	-	2	1817	c.235C>T	c.(235-237)Cga>Tga	p.R79*	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Nonsense_Mutation_p.R79*|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	79						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGAGCAGCTCGCGTGGTGCCT	0.502													A	62148677	G	A	62148677	4	1	160	1	0	0	0	0	0	1	0	0	5532	1095	38	1	172	1	FAM19A2	12	62148677	Nonsense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	6262415	62148677	71703218	71	11157											
GRIP1	23426	broad.mit.edu	37	12	66800092	66800092	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:66800092A>G	uc001stk.3	-	14	2040	c.1799T>C	c.(1798-1800)cTc>cCc	p.L600P	GRIP1_uc010sta.1_Missense_Mutation_p.L544P|GRIP1_uc001stj.3_Missense_Mutation_p.L382P|GRIP1_uc001stm.3_Missense_Mutation_p.L600P|GRIP1_uc001stl.1_Missense_Mutation_p.L492P	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	652	PDZ 5.				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			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)		GCGGATTTTGAGCTTCACCAG	0.413													G	66800092	A	G	66800092	3	3	160	1	0	0	0	0	1	0	0	0	6787	304	11	4	1471	4	GRIP1	12	66800092	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	4651415	66800092	67051803	72	11158											
MED13L	23389	broad.mit.edu	37	12	116446291	116446291	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:116446291C>G	uc001tvw.3	-	9	1982	c.1927G>C	c.(1927-1929)Gat>Cat	p.D643H		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	643					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AACTCAGCATCATCACTGGGT	0.517													G	116446291	C	G	116446291	3	3	160	1	0	0	0	0	1	0	0	0	9431	826	29	5	4793	5	MED13L	12	116446291	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	49646199	116446291	17405604	73	11159											
MPHOSPH9	10198	broad.mit.edu	37	12	123687854	123687854	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:123687854G>A	uc001uel.3	-	4	915	c.807C>T	c.(805-807)aaC>aaT	p.N269N	MPHOSPH9_uc010tal.2_5'UTR|MPHOSPH9_uc010tam.2_Intron|MPHOSPH9_uc001uem.3_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	269					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTAACTGCTTGTTTTCCCTTT	0.373													A	123687854	G	A	123687854	2	1	160	1	0	0	0	0	0	0	0	1	9728	1368	48	3		3	MPHOSPH9	12	123687854	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	7241563	123687854	10164041	74	11160											
TGM1	7051	broad.mit.edu	37	14	24730965	24730965	+	Silent	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:24730965A>G	uc001wod.3	-	2	568	c.444T>C	c.(442-444)caT>caC	p.H148H	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	148					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGAGGAGCATATGGAAAGGCT	0.592													G	24730965	A	G	24730965	2	3	160	1	0	0	0	0	0	0	0	1	15826	446	16	4		4	TGM1	14	24730965	Silent	SNP	A	TCGA-19-2631-01A-01D-1353-08		24730965	82618575	75	11161											
SRP54	6729	broad.mit.edu	37	14	35465958	35465958	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:35465958C>T	uc001wso.3	+	1	394	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	SRP54_uc010tpp.2_5'UTR|SRP54_uc010tpq.2_Intron	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	15	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATCAGCATTACGCTCGTTGAG	0.343													T	35465958	C	T	35465958	3	4	160	1	0	0	0	0	1	0	0	0	15154	536	19	1	45	1	SRP54	14	35465958	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	10734993	35465958	71883582	76	11162											
C14orf37	145407	broad.mit.edu	37	14	58471770	58471770	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:58471770C>G	uc010tro.2	-	7	2564	c.2366G>C	c.(2365-2367)aGa>aCa	p.R789T	C14orf37_uc001xdc.3_Missense_Mutation_p.R751T|C14orf37_uc001xdd.3_Missense_Mutation_p.R751T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	751						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCATACCTTTCTTTTATGCCT	0.413													G	58471770	C	G	58471770	3	3	160	1	0	0	0	0	1	0	0	0	1771	913	32	5	80	5	C14orf37	14	58471770	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	23005812	58471770	48877770	77	11163											
GABRB3	2562	broad.mit.edu	37	15	26825568	26825568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr15:26825568G>A	uc001zbb.3	-	6	851	c.748C>T	c.(748-750)Cga>Tga	p.R250*	GABRB3_uc021sgg.1_Nonsense_Mutation_p.R123*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.R109*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.R194*|GABRB3_uc001zba.3_Nonsense_Mutation_p.R194*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	194					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCCCGCCTCGCCAGTAAAAC	0.517													A	26825568	G	A	26825568	4	1	160	1	0	0	0	0	0	1	0	0	6168	1095	38	1	857	1	GABRB3	15	26825568	Nonsense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		26825568	75705824	78	11164											
PCSK6	5046	broad.mit.edu	37	15	101924538	101924538	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr15:101924538G>A	uc002bxa.2	-	10	1714	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	PCSK6_uc010bpd.3_Intron|PCSK6_uc002bwy.3_Missense_Mutation_p.A467V|PCSK6_uc010bpe.3_Missense_Mutation_p.A464V|PCSK6_uc002bxb.2_Missense_Mutation_p.A467V|PCSK6_uc002bxc.1_Missense_Mutation_p.A467V|PCSK6_uc002bxd.1_Missense_Mutation_p.A467V|PCSK6_uc002bxe.3_Missense_Mutation_p.A467V|PCSK6_uc002bxg.1_Missense_Mutation_p.A467V	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	468					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTATGACCCGCGCCGTTCAC	0.567													A	101924538	G	A	101924538	3	1	160	1	0	0	0	0	1	0	0	0	11604	1087	38	1	2037	1	PCSK6	15	101924538	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	75098970	101924538	606854	79	11165											
GLYR1	84656	broad.mit.edu	37	16	4863830	4863830	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:4863830C>T	uc002cxx.4	-	11	1064	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.G257S|GLYR1_uc002cya.2_Missense_Mutation_p.G337S|GLYR1_uc010uxv.1_Missense_Mutation_p.G262S	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	343					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCACTGGGGCCCAGCACCAGC	0.612													T	4863830	C	T	4863830	3	4	160	1	0	0	0	0	1	0	0	0	6483	623	22	3	654	3	GLYR1	16	4863830	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		4863830	85490923	80	11166											
ATF7IP2	80063	broad.mit.edu	37	16	10524533	10524533	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:10524533C>T	uc002czw.3	+	1	215	c.56C>T	c.(55-57)cCc>cTc	p.P19L	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.P19L|ATF7IP2_uc002czv.3_Missense_Mutation_p.P19L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AAGACAATGCCCCTAAGTTGC	0.383													T	10524533	C	T	10524533	3	4	160	1	0	0	0	0	1	0	0	0	1088	623	22	3	58	3	ATF7IP2	16	10524533	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	5660703	10524533	79830220	81	11167											
UMOD	7369	broad.mit.edu	37	16	20359594	20359594	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:20359594C>T	uc002dhb.3	-	4	1152	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	UMOD_uc002dgz.3_Silent_p.S308S|UMOD_uc002dha.3_Silent_p.S308S	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	308	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			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCCATTATTCGATTTGCAGT	0.552													T	20359594	C	T	20359594	2	4	160	1	0	0	0	0	0	0	0	1	16976	871	31	2		2	UMOD	16	20359594	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	9835061	20359594	69995159	82	11168											
ITGAX	3687	broad.mit.edu	37	16	31373991	31373991	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:31373991C>T	uc002ebt.3	+	11	1343	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	ITGAX_uc002ebu.1_Missense_Mutation_p.R426C|ITGAX_uc010vfk.1_Missense_Mutation_p.R76C	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	426					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.R426fs*20(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGGGCCCCCCGCTACCAGCA	0.657													T	31373991	C	T	31373991	3	4	160	1	0	0	0	0	1	0	0	0	7889	652	23	2	1322	2	ITGAX	16	31373991	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	11014397	31373991	58980762	83	11169											
MYO15A	51168	broad.mit.edu	37	17	18055238	18055238	+	Silent	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:18055238C>T	uc021trm.1	+	39	8085	c.7866C>T	c.(7864-7866)acC>acT	p.T2622T	MYO15A_uc021trl.1_Silent_p.T2620T|MYO15A_uc010vxi.2_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2622	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCAGATGACCCACCTGGCAG	0.602													T	18055238	C	T	18055238	2	4	160	1	0	0	0	0	0	0	0	1	10063	610	22	3		3	MYO15A	17	18055238	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08		18055238	63139972	84	11170											
LLGL1	3996	broad.mit.edu	37	17	18138556	18138556	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:18138556C>G	uc002gsp.3	+	9	1275	c.1214C>G	c.(1213-1215)cCc>cGc	p.P405R		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	405					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCCAGTGTCCCCGCCAAGCTG	0.672													G	18138556	C	G	18138556	3	3	160	1	0	0	0	0	1	0	0	0	8833	623	22	5	1252	5	LLGL1	17	18138556	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	83318	18138556	63056654	85	11171											
GAS2L2	246176	broad.mit.edu	37	17	34074081	34074081	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:34074081G>A	uc002hjv.2	-	4	1067	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	347					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGCTCCCCGTTCCCTGCGG	0.612													A	34074081	G	A	34074081	3	1	160	1	0	0	0	0	1	0	0	0	6247	1144	40	1	1611	1	GAS2L2	17	34074081	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	15935525	34074081	47121129	86	11172											
TAF15	8148	broad.mit.edu	37	17	34151174	34151174	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:34151174G>T	uc002hkd.3	+	6	663	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.3_Missense_Mutation_p.D190Y	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	193	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATATGACAAGGATGGAAGAGG	0.428			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								T	34151174	G	T	34151174	3	4	160	1	0	0	0	0	1	0	0	0	15515	1174	41	5	603	5	TAF15	17	34151174	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	77093	34151174	47044036	87	11173											
KCNH6	81033	broad.mit.edu	37	17	61607575	61607575	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:61607575T>C	uc002jay.3	+	2	511	c.431T>C	c.(430-432)tTg>tCg	p.L144S	KCNH6_uc002jax.1_Missense_Mutation_p.L144S|KCNH6_uc010wpl.2_Missense_Mutation_p.L21S|KCNH6_uc010wpm.2_Missense_Mutation_p.L144S|KCNH6_uc002jaz.1_Missense_Mutation_p.L144S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	144	PAC.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGCCGCAGCTTGTCCCAGCGC	0.642													C	61607575	T	C	61607575	3	2	160	1	0	0	0	0	1	0	0	0	8036	1821	63	4	441	4	KCNH6	17	61607575	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	27456401	61607575	19587635	88	11174											
THOC1	9984	broad.mit.edu	37	18	247872	247874	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:247872_247874delTCT	uc002kkj.4	-	9	801_803	c.761_763delAGA	c.(760-765)aagatt>att	p.K254del	THOC1_uc002kkl.2_In_Frame_Del_p.K254del	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	254					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	p.E253K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTCCATGAAATCTTCTCATAGCA	0.35													-	247874	TCT	-	247872	7	5	160	1	0	1	0	1	0	0	0	0	15861	1435	50	0	1258	0	THOC1	18	247872	In_Frame_Del	DEL	TCT	TCGA-19-2631-01A-01D-1353-08		247872	77829376	89	11175											
PSTPIP2	9050	broad.mit.edu	37	18	43572096	43572096	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:43572096G>A	uc002lbp.4	-	10	910	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	PSTPIP2_uc002lbq.4_Intron|RN7SK_uc021ujh.1_5'Flank	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	272						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CCAGTTTTGCGTTGATTCACA	0.388													A	43572096	G	A	43572096	3	1	160	1	0	0	0	0	1	0	0	0	12722	1145	40	1	206	1	PSTPIP2	18	43572096	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	43324224	43572096	34505152	90	11176											
DENND1C	79958	broad.mit.edu	37	19	6477231	6477231	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:6477231G>C	uc002mfe.3	-	7	603	c.511C>G	c.(511-513)Ccg>Gcg	p.P171A	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.P127A	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	171	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCGCTCACCGGCTTGCTATTC	0.667													C	6477231	G	C	6477231	3	2	160	1	0	0	0	0	1	0	0	0	4428	1203	42	5	1958	5	DENND1C	19	6477231	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		6477231	52651752	91	11177											
MUC16	94025	broad.mit.edu	37	19	8997532	8997532	+	Silent	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:8997532G>A	uc002mkp.3	-	58	41094	c.40890C>T	c.(40888-40890)gcC>gcT	p.A13630A	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.A447A|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13632				Missing (in Ref. 3; AAK74120).	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						GGAGAGGGCTGGCAGCTGTCG	0.468													A	8997532	G	A	8997532	2	1	160	1	0	0	0	0	0	0	0	1	9973	1335	47	3		3	MUC16	19	8997532	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	2520301	8997532	50131451	92	11178											
FBXL12	54850	broad.mit.edu	37	19	9922084	9922084	+	Missense_Mutation	SNP	C	C	T	rs61753275		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:9922084C>T	uc002mme.3	-	2	711	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	FBXL12_uc002mmd.3_Missense_Mutation_p.V104M|FBXL12_uc002mmf.3_Missense_Mutation_p.V104M|FBXL12_uc002mmg.3_Missense_Mutation_p.V104M	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	157							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CGGTCCAGCACGATGCATTCA	0.667													T	9922084	C	T	9922084	3	4	160	1	0	0	0	0	1	0	0	0	5708	536	19	1	515	1	FBXL12	19	9922084	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	924552	9922084	49206899	93	11179											
B3GNT3	10331	broad.mit.edu	37	19	17919127	17919127	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:17919127G>A	uc002nhl.1	+	1	658	c.511G>A	c.(511-513)Gga>Aga	p.G171R	B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	171					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ACAGACTCACGGAGACATCCT	0.637													A	17919127	G	A	17919127	3	1	160	1	0	0	0	0	1	0	0	0	1258	1117	39	2	513	2	B3GNT3	19	17919127	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	7997043	17919127	41209856	94	11180											
SLC5A5	6528	broad.mit.edu	37	19	17986765	17986765	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:17986765G>A	uc002nhr.4	+	4	895	c.548G>A	c.(547-549)gGc>gAc	p.G183D		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	183					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGCAGGGCGGCATGAAGGCT	0.612													A	17986765	G	A	17986765	3	1	160	1	0	0	0	0	1	0	0	0	14668	1203	42	3	566	3	SLC5A5	19	17986765	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	67638	17986765	41142218	95	11181											
FAM187B	148109	broad.mit.edu	37	19	35718991	35718991	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:35718991A>C	uc002nyk.1	-	0	638	c.593T>G	c.(592-594)gTg>gGg	p.V198G		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	198						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCAGGCTTCCACCTGCAGCTC	0.542													C	35718991	A	C	35718991	3	2	160	1	0	0	0	0	1	0	0	0	5513	159	6	5	524	5	FAM187B	19	35718991	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	17732226	35718991	23409992	96	11182											
SYMPK	8189	broad.mit.edu	37	19	46338456	46338456	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:46338456C>T	uc002pdn.3	-	10	1518	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	SYMPK_uc002pdo.1_Missense_Mutation_p.A425T|SYMPK_uc002pdp.1_Missense_Mutation_p.A425T|SYMPK_uc002pdq.2_Missense_Mutation_p.A425T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	425					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCTGGCATGGCCTCGGGTAGG	0.572													T	46338456	C	T	46338456	3	4	160	1	0	0	0	0	1	0	0	0	15436	739	26	3	2619	3	SYMPK	19	46338456	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	10619465	46338456	12790527	97	11183											
FAM83E	54854	broad.mit.edu	37	19	49106813	49106813	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:49106813G>A	uc002pjn.2	-	3	1179	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	372			R -> H (in dbSNP:rs3745727).							NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACATGGAGCGGCTgggccgg	0.692													A	49106813	G	A	49106813	3	1	160	1	0	0	0	0	1	0	0	0	5637	1116	39	2	330	2	FAM83E	19	49106813	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	2768357	49106813	10022170	98	11184											
ZNF845	91664	broad.mit.edu	37	19	53854361	53854361	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:53854361C>A	uc010ydv.1	+	3	550	c.433C>A	c.(433-435)Cat>Aat	p.H145N	ZNF845_uc010ydw.1_Missense_Mutation_p.H145N	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAGCTTTCATTCGCATCT	0.428													A	53854361	C	A	53854361	3	1	160	1	0	0	0	0	1	0	0	0	18188	826	29	5	443	5	ZNF845	19	53854361	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	4747548	53854361	5274622	99	11185											
SEC23B	10483	broad.mit.edu	37	20	18511418	18511418	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:18511418A>G	uc002wra.2	+	9	1665	c.1204A>G	c.(1204-1206)Atg>Gtg	p.M402V	SEC23B_uc010zsb.2_Missense_Mutation_p.M384V|SEC23B_uc002wrb.2_Missense_Mutation_p.M402V|SEC23B_uc002wqz.2_Missense_Mutation_p.M402V|SEC23B_uc002wrc.2_Missense_Mutation_p.M402V	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	402					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AGATTTCCGAATGGCATTTGG	0.398													G	18511418	A	G	18511418	3	3	160	1	0	0	0	0	1	0	0	0	13992	101	4	4	1238	4	SEC23B	20	18511418	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		18511418	44514102	100	11186											
SRC	6714	broad.mit.edu	37	20	36030005	36030005	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:36030005G>A	uc002xgx.3	+	11	1489	c.1040_splice	c.e11-1	p.G347_splice	SRC_uc002xgy.3_Splice_Site_p.G347_splice|SRC_uc021wdd.1_5'Flank	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	347	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CTCTGCCCAGGGAGTTTGCTG	0.617													A	36030005	G	A	36030005	3	1	160	1	0	0	0	0	1	0	0	0	15133	1246	43	3	1070	3	SRC	20	36030005	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	17518587	36030005	26995515	101	11187											
KIAA1755	85449	broad.mit.edu	37	20	36841631	36841631	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:36841631C>T	uc002xhy.1	-	13	3688	c.3416G>A	c.(3415-3417)gGc>gAc	p.G1139D	KIAA1755_uc002xhv.1_Missense_Mutation_p.G203D|KIAA1755_uc002xhw.1_Missense_Mutation_p.G194D|KIAA1755_uc002xhx.1_Missense_Mutation_p.G417D	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1139										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGAGCCTTTGCCGTCTTCAGC	0.652													T	36841631	C	T	36841631	3	4	160	1	0	0	0	0	1	0	0	0	8257	739	26	3	190	3	KIAA1755	20	36841631	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	811626	36841631	26183889	102	11188											
LPIN3	64900	broad.mit.edu	37	20	39986528	39986528	+	Silent	SNP	G	G	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:39986528G>T	uc010ggh.3	+	16	2140	c.2049G>T	c.(2047-2049)ggG>ggT	p.G683G	LPIN3_uc002xjx.3_Silent_p.G682G|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	682	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TCAGAAATGGGTACAAGTTCC	0.622													T	39986528	G	T	39986528	2	4	160	1	0	0	0	0	0	0	0	1	8920	1248	44	5		5	LPIN3	20	39986528	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	3144897	39986528	23038992	103	11189											
DPM1	8813	broad.mit.edu	37	20	49574949	49574949	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:49574949C>T	uc002xvw.1	-	0	112	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DPM1_uc002xvx.1_Non-coding_Transcript|MOCS3_uc002xvy.1_5'Flank	NM_003859	NP_003850	O60762	DPM1_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1), mRNA.	38					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GGCAGGTTCTCGCGCTCGTTG	0.582													T	49574949	C	T	49574949	3	4	160	1	0	0	0	0	1	0	0	0	4724	893	31	2	706	2	DPM1	20	49574949	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	9588421	49574949	13450571	104	11190											
NFATC2	4773	broad.mit.edu	37	20	50007936	50007936	+	Silent	SNP	C	C	T	rs148642400		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:50007936C>T	uc002xwd.3	-	9	2995	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	NFATC2_uc002xwc.3_3'UTR|NFATC2_uc010zyv.2_3'UTR|NFATC2_uc010zyw.2_Silent_p.T706T|NFATC2_uc002xwe.3_Silent_p.T905T|NFATC2_uc010zyx.2_3'UTR|NFATC2_uc010zyy.2_3'UTR|NFATC2_uc010zyz.2_Silent_p.T706T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	925					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTTCTTTTACGTCTGATTTC	0.498													T	50007936	C	T	50007936	2	4	160	1	0	0	0	0	0	0	0	1	10362	523	19	1		1	NFATC2	20	50007936	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	432987	50007936	13017584	105	11191											
TMPRSS15	5651	broad.mit.edu	37	21	19651292	19651292	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr21:19651292A>T	uc002ykw.3	-	22	2784	c.2753T>A	c.(2752-2754)gTt>gAt	p.V918D		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	918	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGATATACAACCGTCCCCCA	0.328													T	19651292	A	T	19651292	3	4	160	1	0	0	0	0	1	0	0	0	16243	43	2	5	318	5	TMPRSS15	21	19651292	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		19651292	28478603	106	11192											
IFNGR2	3460	broad.mit.edu	37	21	34805024	34805024	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr21:34805024C>G	uc002yrp.4	+	5	1373	c.725C>G	c.(724-726)tCc>tGc	p.S242C	TMEM50B_uc002yrs.2_Non-coding_Transcript	NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	242					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TTTTTAGCCTCCACTGAGCTT	0.468													G	34805024	C	G	34805024	3	3	160	1	0	0	0	0	1	0	0	0	7550	855	30	5	747	5	IFNGR2	21	34805024	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	15153732	34805024	13324871	107	11193											
ZBED1	9189	broad.mit.edu	37	X	2407889	2407889	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:2407889A>G	uc022brx.1	-	0	872	c.872T>C	c.(871-873)cTg>cCg	p.L291P	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.L291P|ZBED1_uc004cqg.2_Missense_Mutation_p.L291P|ZBED1_uc022brw.1_Missense_Mutation_p.L291P	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	291						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			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)				GGTGTGGCCCAGGCAGGGCAT	0.647													G	2407889	A	G	2407889	3	3	160	1	0	0	0	0	1	0	0	0	17514	188	7	4	1216	4	ZBED1	23	2407889	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		2407889	152862671	108	11194											
ARX	170302	broad.mit.edu	37	X	25031255	25031255	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:25031255C>G	uc004dbp.4	-	1	1068	c.857G>C	c.(856-858)gGc>gCc	p.G286A		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	Homo sapiens aristaless related homeobox (ARX), mRNA.	286			G -> S (in MRX54; dbSNP:rs28935479).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CAGCTCCCCGCCCTCTGTGGC	0.726													G	25031255	C	G	25031255	3	3	160	1	0	0	0	0	1	0	0	0	1004	739	26	5	847	5	ARX	23	25031255	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	22623366	25031255	130239305	109	11195											
DMD	1756	broad.mit.edu	37	X	32305784	32305784	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:32305784C>T	uc004dda.1	-	42	6396	c.6152G>A	c.(6151-6153)cGg>cAg	p.R2051Q	DMD_uc004dcw.2_Missense_Mutation_p.R707Q|DMD_uc004dcx.2_Missense_Mutation_p.R710Q|DMD_uc004dcz.2_Missense_Mutation_p.R1928Q|DMD_uc004dcy.1_Missense_Mutation_p.R2047Q|DMD_uc004ddb.1_Missense_Mutation_p.R2043Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2051					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			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)				AATGTCAATCCGACCTGAGCT	0.348													T	32305784	C	T	32305784	3	4	160	1	0	0	0	0	1	0	0	0	4580	652	23	2	5201	2	DMD	23	32305784	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	7274529	32305784	122964776	110	11196											
RBM3	5935	broad.mit.edu	37	X	48433596	48433596	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:48433596G>C	uc004dkf.2	+	1	262	c.28G>C	c.(28-30)Gtg>Ctg	p.V10L		NM_006743	NP_006734	P98179	RBM3_HUMAN	Homo sapiens RNA binding motif (RNP1, RRM) protein 3 (RBM3), mRNA.	10	RRM.				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						AAAGCTCTTCGTGGGAGGGCT	0.502											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	48433596	G	C	48433596	3	2	160	1	0	0	0	0	1	0	0	0	13129	1145	40	5	30	5	RBM3	23	48433596	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	16127812	48433596	106836964	111	11197											
CLCN5	1184	broad.mit.edu	37	X	49851112	49851112	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:49851112delA	uc004dos.1	+	7	1180	c.932delA	c.(931-933)cacfs	p.H311fs	CLCN5_uc004dor.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004doq.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004dot.1_Frame_Shift_Del_p.H311fs	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	311					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTGGAGTTTCACACCCCATGG	0.498													-	49851112	A	-	49851112	7	5	160	1	0	1	0	1	0	0	0	0	3466	159	6	0	1176	0	CLCN5	23	49851112	Frame_Shift_Del	DEL	A	TCGA-19-2631-01A-01D-1353-08	1417516	49851112	105419448	112	11198											
USP51	158880	broad.mit.edu	37	X	55513943	55513943	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:55513943G>A	uc022bxu.1	-	0	1430	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	USP51_uc004dun.2_Missense_Mutation_p.P477L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	477					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ACAGCAGTTGGGGTTATTGGC	0.478													A	55513943	G	A	55513943	3	1	160	1	0	0	0	0	1	0	0	0	17080	1232	43	3	709	3	USP51	23	55513943	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	5662831	55513943	99756617	113	11199											
NRK	203447	broad.mit.edu	37	X	105159747	105159747	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:105159747C>T	uc004emd.3	+	14	2678	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L	NRK_uc010npc.1_Missense_Mutation_p.P460L	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	792							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCTTCTGTGCCTAACAACCAG	0.313										HNSCC(51;0.14)			T	105159747	C	T	105159747	3	4	160	1	0	0	0	0	1	0	0	0	10655	681	24	3	2433	3	NRK	23	105159747	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	49645804	105159747	50110813	114	11200											
LHFPL1	340596	broad.mit.edu	37	X	111914414	111914414	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:111914414G>A	uc004epp.3	-	0	347	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	LHFPL1_uc004epq.3_Missense_Mutation_p.R69C|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Missense_Mutation_p.R69C	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	69						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592													A	111914414	G	A	111914414	3	1	160	1	0	0	0	0	1	0	0	0	8764	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	6754667	111914414	43356146	115	11201											
HTR2C	3358	broad.mit.edu	37	X	114082719	114082719	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:114082719G>A	uc004epu.1	+	4	1231	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	HTR2C_uc010nqc.1_Missense_Mutation_p.R168Q|HTR2C_uc004epv.1_Intron	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	168					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.R168Q(2)|p.S167L(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)	TTCAATTCGCGGACTAAGGCC	0.408													A	114082719	G	A	114082719	3	1	160	1	0	0	0	0	1	0	0	0	7443	1116	39	2	513	2	HTR2C	23	114082719	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	2168305	114082719	41187841	116	11202											
MAGEC3	139081	broad.mit.edu	37	X	140985023	140985023	+	Silent	SNP	T	T	C			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:140985023T>C	uc011mwp.2	+	6	1479	c.1479T>C	c.(1477-1479)taT>taC	p.Y493Y	MAGEC3_uc004fbs.3_Silent_p.Y195Y|MAGEC3_uc010nsj.3_Silent_p.Y195Y|MAGEC3_uc022cfh.1_Silent_p.Y195Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	493	MAGE 2.									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)					ATAAGGACTATTTTCCCATGA	0.438													C	140985023	T	C	140985023	2	2	160	1	0	0	0	0	0	0	0	1	9182	1500	52	4		4	MAGEC3	23	140985023	Silent	SNP	T	TCGA-19-2631-01A-01D-1353-08	26902304	140985023	14285537	117	11203											
MTMR1	8776	broad.mit.edu	37	X	149924177	149924177	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:149924177C>T	uc004feh.1	+	14	1832	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	MTMR1_uc011mya.1_Missense_Mutation_p.T464M|MTMR1_uc004fei.3_Missense_Mutation_p.T558M|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	558	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TATACAAAGACGATATCTTTA	0.323													T	149924177	C	T	149924177	3	4	160	1	0	0	0	0	1	0	0	0	9938	536	19	1	1727	1	MTMR1	23	149924177	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	8939154	149924177	5346383	118	11204											
FAM3A	60343	broad.mit.edu	37	X	153736149	153736149	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:153736149C>A	uc004flt.2	-	6	946	c.420G>T	c.(418-420)tgG>tgT	p.W140C	FAM3A_uc011mzp.2_Intron|FAM3A_uc022cih.1_Missense_Mutation_p.W88C|FAM3A_uc004flw.2_Missense_Mutation_p.W126C|FAM3A_uc004fls.2_Missense_Mutation_p.W126C	NM_001171133	NP_001164604	P98173	FAM3A_HUMAN	Homo sapiens family with sequence similarity 3, member A (FAM3A), transcript variant 3, mRNA.	126						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTCCGGCCCACATGTCAA	0.627													A	153736149	C	A	153736149	3	1	160	1	0	0	0	0	1	0	0	0	5556	624	22	5	330	5	FAM3A	23	153736149	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	3811972	153736149	1534411	119	11205											
CHD5	26038	broad.mit.edu	37	1	6181182	6181182	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:6181182G>A	uc001amb.2	-	32	5006	c.4895C>T	c.(4894-4896)cCg>cTg	p.P1632L	CHD5_uc001alz.2_Missense_Mutation_p.P489L|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1632					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGCTGCTCCGGGGAGGGCGG	0.652													A	6181182	G	A	6181182	3	1	161	1	0	0	0	0	1	0	0	0	3328	1116	39	2	1005	2	CHD5	1	6181182	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		6181182	243069439	1	11206											
RORC	6097	broad.mit.edu	37	1	151789268	151789268	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:151789268C>T	uc001ezh.3	-	3	278	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	RORC_uc001ezg.3_Missense_Mutation_p.R36Q|RORC_uc010pdo.2_Missense_Mutation_p.R111Q|RORC_uc010pdp.2_Missense_Mutation_p.R57Q	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	57					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGCTGGCTCCGGCGGAAGAA	0.637													T	151789268	C	T	151789268	3	4	161	1	0	0	0	0	1	0	0	0	13530	652	23	2	1418	2	RORC	1	151789268	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	145608086	151789268	97461353	2	11207											
RPTN	126638	broad.mit.edu	37	1	152127687	152127687	+	Missense_Mutation	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:152127687G>T	uc001ezs.1	-	2	1953	c.1888C>A	c.(1888-1890)Caa>Aaa	p.Q630K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	630	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTGGTTTTGGTACCCTTCC	0.498													T	152127687	G	T	152127687	3	4	161	1	0	0	0	0	1	0	0	0	13664	1357	47	5	470	5	RPTN	1	152127687	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	338419	152127687	97122934	3	11208											
HMCN1	83872	broad.mit.edu	37	1	185958748	185958748	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:185958748C>T	uc001grq.1	+	20	3406	c.3177C>T	c.(3175-3177)taC>taT	p.Y1059Y	HMCN1_uc001grr.1_Silent_p.Y400Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1059	Ig-like C2-type 7.				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						CAGCCGGCTACGCCAAAAGGA	0.483													T	185958748	C	T	185958748	2	4	161	1	0	0	0	0	0	0	0	1	7220	547	19	1		1	HMCN1	1	185958748	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	33831061	185958748	63291873	4	11209											
IGFN1	91156	broad.mit.edu	37	1	201182690	201182690	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:201182690C>T	uc001gwc.3	+	11	8799	c.8669C>T	c.(8668-8670)aCc>aTc	p.T2890I	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGATGCTACCCGGAGTTCC	0.562													T	201182690	C	T	201182690	3	4	161	1	0	0	0	0	1	0	0	0	7590	507	18	3	8711	3	IGFN1	1	201182690	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	15223942	201182690	48067931	5	11210											
STON1-GTF2A1L	11036	broad.mit.edu	37	2	48960045	48960045	+	Missense_Mutation	SNP	G	G	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:48960045G>C	uc021vhf.1	+						LHCGR_uc002rwu.4_Intron|LHCGR_uc002rwv.2_Intron	NM_001198593	NP_001185522	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 2, mRNA.						endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCCAAGAAGGACATCGTTT	0.363													C	48960045	G	C	48960045	3	2	161	1	0	0	0	0	1	0	0	0	15316	1000	35	5		5	STON1-GTF2A1L	2	48960045	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		48960045	194239328	6	11211											
DPP10	57628	broad.mit.edu	37	2	116548904	116548904	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:116548904C>T	uc002tle.3	+	18	1705	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	DPP10_uc002tla.2_Nonsense_Mutation_p.R558*|DPP10_uc002tlb.2_Nonsense_Mutation_p.R508*|DPP10_uc002tlc.2_Nonsense_Mutation_p.R554*|DPP10_uc002tlf.2_Nonsense_Mutation_p.R551*	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	558					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTTATGGACCGAAACCAGTA	0.289													T	116548904	C	T	116548904	4	4	161	1	0	0	0	0	0	1	0	0	4727	644	23	2	1917	2	DPP10	2	116548904	Nonsense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	67588859	116548904	126650469	7	11212											
NCL	4691	broad.mit.edu	37	2	232325239	232325239	+	Missense_Mutation	SNP	T	T	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:232325239T>C	uc002vru.3	-	4	989	c.848A>G	c.(847-849)gAa>gGa	p.E283G	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	283					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTGGCCATTTCCTTCTTTCG	0.433													C	232325239	T	C	232325239	3	2	161	1	0	0	0	0	1	0	0	0	10226	1783	62	4	1324	4	NCL	2	232325239	Missense_Mutation	SNP	T	TCGA-19-4068-01A-01D-1353-08	115776335	232325239	10874134	8	11213											
SUSD5	26032	broad.mit.edu	37	3	33194586	33194586	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:33194586G>A	uc003cfo.1	-	4	1956	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	513					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCATGATCGTTGAGGGGAT	0.522													A	33194586	G	A	33194586	3	1	161	1	0	0	0	0	1	0	0	0	15408	1145	40	1	355	1	SUSD5	3	33194586	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		33194586	164827844	9	11214											
VILL	50853	broad.mit.edu	37	3	38048114	38048114	+	Missense_Mutation	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:38048114G>T	uc003chj.3	+	18	2666	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	VILL_uc003chl.3_Missense_Mutation_p.G794W	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	794	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACGATCAACGGGGGCCTGCG	0.672													T	38048114	G	T	38048114	3	4	161	1	0	0	0	0	1	0	0	0	17162	1116	39	5	2450	5	VILL	3	38048114	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	4853528	38048114	159974316	10	11215											
SHISA5	51246	broad.mit.edu	37	3	48510545	48510545	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:48510545G>A	uc003ctp.1	-	5	818	c.684C>T	c.(682-684)taC>taT	p.Y228Y	SHISA5_uc003ctm.2_Silent_p.Y125Y|SHISA5_uc011bbk.1_Nonsense_Mutation_p.Q137*|SHISA5_uc011bbl.2_Silent_p.Y126Y|SHISA5_uc003cto.1_Silent_p.Y197Y|SHISA5_uc003cts.1_Silent_p.Y197Y|SHISA5_uc003ctt.3_3'UTR	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	228	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						AGGCCGGGTTGTAAGGAGGCT	0.637													A	48510545	G	A	48510545	2	1	161	1	0	0	0	0	0	0	0	1	14283	1372	48	3		3	SHISA5	3	48510545	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	10462431	48510545	149511885	11	11216											
POC1A	25886	broad.mit.edu	37	3	52156395	52156395	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:52156395C>T	uc003dcu.3	-	9	1299	c.981_splice	c.e9+1	p.L327_splice	POC1A_uc003dcv.3_Splice_Site_p.L289_splice|POC1A_uc003dcw.3_Splice_Site_p.L327_splice	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	327						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGCCACTTACCAGATTCCCCA	0.547													T	52156395	C	T	52156395	2	4	161	1	0	0	0	0	0	0	0	1	12175	608	21	3		3	POC1A	3	52156395	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	3645850	52156395	145866035	12	11217											
EPHA6	285220	broad.mit.edu	37	3	97124120	97124120	+	Splice_Site	SNP	T	T	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:97124120T>A	uc010how.1	+	6	1774	c.1731_splice	c.e6+2	p.K577_splice		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	482						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATGAGAAAGTAGGTCTTATT	0.353													A	97124120	T	A	97124120	5	1	161	1	0	0	0	0	0	0	1	0	5171	1652	57	5	1755	5	EPHA6	3	97124120	Splice_Site	SNP	T	TCGA-19-4068-01A-01D-1353-08	44967725	97124120	100898310	13	11218											
IMPG2	50939	broad.mit.edu	37	3	100964883	100964883	+	Missense_Mutation	SNP	C	C	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:100964883C>G	uc003duq.2	-	11	1509	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	IMPG2_uc011bhe.2_Missense_Mutation_p.D299H	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	436					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAGCTGAAATCAAGTGGTGGA	0.468													G	100964883	C	G	100964883	3	3	161	1	0	0	0	0	1	0	0	0	7729	826	29	5	2451	5	IMPG2	3	100964883	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	3840763	100964883	97057547	14	11219											
CASR	846	broad.mit.edu	37	3	122003194	122003194	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:122003194C>T	uc003eew.4	+	6	2861	c.2423C>T	c.(2422-2424)cCg>cTg	p.P808L	CASR_uc003eev.4_Missense_Mutation_p.P798L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	798					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGGAAGCTGCCGGAGAACTTC	0.552													T	122003194	C	T	122003194	3	4	161	1	0	0	0	0	1	0	0	0	2682	652	23	2	2445	2	CASR	3	122003194	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	21038311	122003194	76019236	15	11220											
PLXNA1	5361	broad.mit.edu	37	3	126708342	126708342	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:126708342C>T	uc003ejg.3	+	0	906	c.906C>T	c.(904-906)tgC>tgT	p.C302C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	302	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCATTGGCTGCGAGCAGGCGG	0.662													T	126708342	C	T	126708342	2	4	161	1	0	0	0	0	0	0	0	1	12119	776	27	1		1	PLXNA1	3	126708342	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	4705148	126708342	71314088	16	11221											
THPO	7066	broad.mit.edu	37	3	184090840	184090840	+	Missense_Mutation	SNP	G	G	A	rs144953270		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:184090840G>A	uc003fol.1	-	5	738	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	THPO_uc003fom.2_Missense_Mutation_p.R171W|THPO_uc021xii.1_Missense_Mutation_p.A169V|THPO_uc003fon.3_Intron|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Intron|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Intron|THPO_uc003fos.1_Intron	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	175					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTGGGGCCCGCCTGACGCAG	0.562													A	184090840	G	A	184090840	3	1	161	1	0	0	0	0	1	0	0	0	15869	1087	38	1	542	1	THPO	3	184090840	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	57382498	184090840	13931590	17	11222											
DEFB131	644414	broad.mit.edu	37	4	9452176	9452176	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr4:9452176delG	uc011bwt.2	+	1	149	c.149delG	c.(148-150)tgtfs	p.C50fs		NM_001040448	NP_001035538	P59861	DB131_HUMAN	Homo sapiens defensin, beta 131 (DEFB131), mRNA.	50					defense response to bacterium	extracellular region				lung(2)	2						ATTAGATACTGTGCTGACTTC	0.383													-	9452176	G	-	9452176	7	5	161	1	0	1	0	1	0	0	0	0	4416	1377	48	0	155	0	DEFB131	4	9452176	Frame_Shift_Del	DEL	G	TCGA-19-4068-01A-01D-1353-08		9452176	181702100	18	11223											
PLEKHG4B	153478	broad.mit.edu	37	5	163559	163559	+	Silent	SNP	G	G	A	rs114260538	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:163559G>A	uc003jak.2	+	10	2354	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	768					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P768P(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)		AGAAGCTCCCGCTGTGGCAGC	0.652													A	163559	G	A	163559	2	1	161	1	0	0	0	0	0	0	0	1	12072	1074	38	1		1	PLEKHG4B	5	163559	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		163559	180751701	19	11224											
MAST4	375449	broad.mit.edu	37	5	65892596	65892596	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:65892596C>T	uc021xzk.1	+	0	421	c.113C>T	c.(112-114)tCg>tTg	p.S38L	MAST4_uc010iwz.3_Missense_Mutation_p.S38L|MAST4_uc003jur.4_Missense_Mutation_p.S38L	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	38						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			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)		GGTGCTTCCTCGGCCGAGTCC	0.731													T	65892596	C	T	65892596	3	4	161	1	0	0	0	0	1	0	0	0	9327	893	31	2	115	2	MAST4	5	65892596	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	65729037	65892596	115022664	20	11225											
TAF9	6880	broad.mit.edu	37	5	68647987	68647987	+	Silent	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:68647987G>T	uc003jwa.3	-	4	512	c.420C>A	c.(418-420)atC>atA	p.I140I	TAF9_uc003jwb.3_Silent_p.I137I	NM_016283	NP_057367	Q9Y3D8	KAD6_HUMAN	Homo sapiens TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa (TAF9), transcript variant 2, mRNA.	140						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GCTGATGCACGATTTCTTCCT	0.373													T	68647987	G	T	68647987	2	4	161	1	0	0	0	0	0	0	0	1	15532	1048	37	5		5	TAF9	5	68647987	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	2755391	68647987	112267273	21	11226											
SLCO6A1	133482	broad.mit.edu	37	5	101794118	101794138	+	In_Frame_Del	DEL	TTCCAAGTTTCAGATCTTTAA	TTCCAAGTTTCAGATCTTTAA	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:101794118_101794138delTTCCAAGTTTCAGATCTTTAA	uc003knn.3	-	5	1251_1271	c.1079_1099delTTAAAGATCTGAAACTTGGAA	c.(1078-1101)cttaaagatctgaaacttggaact>cct	p.360_367LKDLKLGT>P	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_In_Frame_Del_p.360_367LKDLKLGT>P|SLCO6A1_uc003knq.3_In_Frame_Del_p.298_305LKDLKLGT>P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	360						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTGATATTAGTTCCAAGTTTCAGATCTTTAAGTCTGCTGTC	0.285													-	101794138	TTCCAAGTTTCAGATCTTTAA	-	101794118	7	5	161	1	0	1	0	1	0	0	0	0	14732	1725	60	0	1092	0	SLCO6A1	5	101794118	In_Frame_Del	DEL	TTCCAAGTTTCAGATCTTTAA	TCGA-19-4068-01A-01D-1353-08	33146131	101794118	79121142	22	11227											
SEC24A	10802	broad.mit.edu	37	5	134033601	134033601	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:134033601G>A	uc003kzs.3	+	14	2412	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	SEC24A_uc011cxu.2_Missense_Mutation_p.R471Q	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	707					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTATTTCTCGGTATTCAGCA	0.383													A	134033601	G	A	134033601	3	1	161	1	0	0	0	0	1	0	0	0	13994	1116	39	2	2178	2	SEC24A	5	134033601	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	32239483	134033601	46881659	23	11228											
SH3RF2	153769	broad.mit.edu	37	5	145435652	145435652	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:145435652G>A	uc003lnt.3	+	7	1669	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	SH3RF2_uc011dbl.1_Silent_p.R477R|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	477			R -> Q (in dbSNP:rs35165046).				ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGATCCACGGCAAAGCCGTC	0.562													A	145435652	G	A	145435652	2	1	161	1	0	0	0	0	0	0	0	1	14259	1190	42	3		3	SH3RF2	5	145435652	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	11402051	145435652	35479608	24	11229											
TRIM41	90933	broad.mit.edu	37	5	180651777	180651777	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:180651777G>A	uc003mne.2	+	0	1515	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	TRNA_Lys_uc021ykf.1_5'Flank|TRNA_Val_uc021ykg.1_5'Flank|MIR4638_uc021ykh.1_5'Flank|AX748230_uc003mnb.1_Missense_Mutation_p.R39C|TRIM41_uc003mnc.2_Missense_Mutation_p.V260M|TRIM41_uc003mnd.2_Missense_Mutation_p.V260M|TRIM41_uc003mnf.2_Non-coding_Transcript	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	260						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCACAGCGTGGTGCCATT	0.552													A	180651777	G	A	180651777	3	1	161	1	0	0	0	0	1	0	0	0	16513	1145	40	1	780	1	TRIM41	5	180651777	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	35216125	180651777	263483	25	11230											
MCM3	4172	broad.mit.edu	37	6	52141940	52141940	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:52141940G>A	uc003pan.1	-	7	1200	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	MCM3_uc011dwu.1_Nonsense_Mutation_p.R318*	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	364	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGGATAGCTCGGGGTGCAGTG	0.597													A	52141940	G	A	52141940	4	1	161	1	0	0	0	0	0	1	0	0	9387	1124	39	2	1376	2	MCM3	6	52141940	Nonsense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		52141940	118973127	26	11231											
BMP5	653	broad.mit.edu	37	6	55684540	55684540	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:55684540C>T	uc003pcq.3	-	1	1308	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	BMP5_uc011dxf.2_Missense_Mutation_p.R199Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	199					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGTATATCCGGAATTCAGC	0.368													T	55684540	C	T	55684540	3	4	161	1	0	0	0	0	1	0	0	0	1463	652	23	2	792	2	BMP5	6	55684540	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	3542600	55684540	115430527	27	11232											
NOX3	50508	broad.mit.edu	37	6	155764472	155764472	+	Missense_Mutation	SNP	C	C	T	rs142034685		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:155764472C>T	uc003qqm.3	-	4	524	c.421G>A	c.(421-423)Gca>Aca	p.A141T		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	141	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			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)		TTGGAAAGTGCGGCCAGAAGT	0.577													T	155764472	C	T	155764472	3	4	161	1	0	0	0	0	1	0	0	0	10557	768	27	1	1321	1	NOX3	6	155764472	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	100079932	155764472	15350595	28	11233											
DTX2	113878	broad.mit.edu	37	7	76109950	76109950	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:76109950A>G	uc011kgk.1	+						DTX2_uc003uff.4_Missense_Mutation_p.I42V|DTX2_uc003ufg.4_Missense_Mutation_p.I42V|DTX2_uc003ufh.4_Missense_Mutation_p.I42V|DTX2_uc003ufj.4_Missense_Mutation_p.I42V	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.						Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTGCAGCTTCATCGAGCAGCA	0.662													G	76109950	A	G	76109950	3	3	161	1	0	0	0	0	1	0	0	0	4794	217	8	4	126	4	DTX2	7	76109950	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08		76109950	83028713	29	11234											
CALCR	799	broad.mit.edu	37	7	93067382	93067382	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:93067382G>A	uc003umv.2	-	12	1322	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A307V|CALCR_uc003umw.2_Missense_Mutation_p.A307V	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	323					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.A341V(1)|p.A307V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CACAAGTGCCGCCATGACAGG	0.348													A	93067382	G	A	93067382	3	1	161	1	0	0	0	0	1	0	0	0	2579	1087	38	1	520	1	CALCR	7	93067382	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	16957432	93067382	66071281	30	11235											
LAMB1	3912	broad.mit.edu	37	7	107600245	107600245	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:107600245G>A	uc003vev.2	-	16	2582	c.2421C>T	c.(2419-2421)tcC>tcT	p.S807S	LAMB1_uc003vew.2_Silent_p.S783S|LAMB1_uc003vex.3_Silent_p.S783S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	783	Laminin EGF-like 6.				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			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)	GATCACACACGGAACTTAACG	0.572													A	107600245	G	A	107600245	2	1	161	1	0	0	0	0	0	0	0	1	8610	1103	39	2		2	LAMB1	7	107600245	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	14532863	107600245	51538418	31	11236											
ADAMDEC1	27299	broad.mit.edu	37	8	24251644	24251644	+	Missense_Mutation	SNP	C	C	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:24251644C>G	uc003xdz.2	+	3	567	c.347C>G	c.(346-348)aCg>aGg	p.T116R	ADAMDEC1_uc010lub.2_Missense_Mutation_p.T37R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.T37R	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAAATTACCACGAAACCTGAG	0.463													G	24251644	C	G	24251644	3	3	161	1	0	0	0	0	1	0	0	0	254	536	19	5	361	5	ADAMDEC1	8	24251644	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		24251644	122112378	32	11237											
FZD3	7976	broad.mit.edu	37	8	28385048	28385048	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:28385048G>A	uc003xgx.3	+	4	1300	c.771G>A	c.(769-771)ttG>ttA	p.L257L	FZD3_uc010lvb.3_Silent_p.L257L	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	257					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTGGATTTTTGCTTGAAGATC	0.378													A	28385048	G	A	28385048	2	1	161	1	0	0	0	0	0	0	0	1	6131	1310	46	3		3	FZD3	8	28385048	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	4133404	28385048	117978974	33	11238											
GPR124	25960	broad.mit.edu	37	8	37693258	37693258	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:37693258G>A	uc003xkj.3	+	12	2406	c.2020G>A	c.(2020-2022)Gtg>Atg	p.V674M	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	674					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAGGCGTGGCGTGGCCACCCC	0.652													A	37693258	G	A	37693258	3	1	161	1	0	0	0	0	1	0	0	0	6638	1145	40	1	2049	1	GPR124	8	37693258	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	9308210	37693258	108670764	34	11239											
VPS13B	157680	broad.mit.edu	37	8	100874087	100874087	+	Silent	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:100874087C>A	uc003yiv.3	+	57	11314	c.11203C>A	c.(11203-11205)Cgg>Agg	p.R3735R	VPS13B_uc003yiw.3_Silent_p.R3710R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3735					protein transport					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)			GCACTACAACCGGCAGGAGGA	0.657													A	100874087	C	A	100874087	2	1	161	1	0	0	0	0	0	0	0	1	17187	643	23	5		5	VPS13B	8	100874087	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	63180829	100874087	45489935	35	11240											
PKHD1L1	93035	broad.mit.edu	37	8	110463211	110463211	+	Silent	SNP	A	A	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:110463211A>T	uc003yne.3	+	40	6287	c.6183A>T	c.(6181-6183)ggA>ggT	p.G2061G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2061	IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			TAGGCACGGGAGCTGAGCAAG	0.458										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	110463211	A	T	110463211	2	4	161	1	0	0	0	0	0	0	0	1	11972	291	11	5		5	PKHD1L1	8	110463211	Silent	SNP	A	TCGA-19-4068-01A-01D-1353-08	9589124	110463211	35900811	36	11241											
ST6GALNAC6	30815	broad.mit.edu	37	9	130653179	130653179	+	Silent	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr9:130653179C>A	uc004bsp.1	-	4	560	c.441G>T	c.(439-441)gtG>gtT	p.V147V	ST6GALNAC6_uc004bsn.1_Silent_p.V113V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bso.1_Silent_p.V147V|ST6GALNAC6_uc004bsq.1_Silent_p.V113V|ST6GALNAC6_uc004bsr.2_Silent_p.V113V|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	147					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTGTTGCCCACATCAGCTG	0.607													A	130653179	C	A	130653179	2	1	161	1	0	0	0	0	0	0	0	1	15227	581	21	5		5	ST6GALNAC6	9	130653179	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08		130653179	10560252	37	11242											
PLXDC2	84898	broad.mit.edu	37	10	20453469	20453469	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:20453469G>A	uc001iqg.1	+	6	1493	c.856G>A	c.(856-858)Gtt>Att	p.V286I	PLXDC2_uc001iqh.1_Missense_Mutation_p.V237I|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	286						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGCATTTGTCGTTGTCCACAG	0.443													A	20453469	G	A	20453469	3	1	161	1	0	0	0	0	1	0	0	0	12118	1145	40	1	882	1	PLXDC2	10	20453469	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		20453469	115081278	38	11243											
MYO3A	53904	broad.mit.edu	37	10	26463063	26463063	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:26463063C>T	uc001isn.2	+	29	4230	c.3870C>T	c.(3868-3870)agC>agT	p.S1290S	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1290					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			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						CTACACTTAGCCAAAGGTCAA	0.428													T	26463063	C	T	26463063	2	4	161	1	0	0	0	0	0	0	0	1	10076	738	26	3		3	MYO3A	10	26463063	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	6009594	26463063	109071684	39	11244											
DKK1	22943	broad.mit.edu	37	10	54076434	54076434	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:54076434A>G	uc001jjr.3	+	3	822	c.668A>G	c.(667-669)cAt>cGt	p.H223R	LOC100506939_uc009xox.2_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.	223	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGTACCAAGCATAGGAGAAAA	0.463													G	54076434	A	G	54076434	3	3	161	1	0	0	0	0	1	0	0	0	4544	217	8	4	682	4	DKK1	10	54076434	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	27613371	54076434	81458313	40	11245											
TMEM26	219623	broad.mit.edu	37	10	63170245	63170245	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:63170245C>T	uc001jlo.2	-	5	1311	c.942G>A	c.(940-942)tcG>tcA	p.S314S	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	314						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GACTTCTCAACGAAGCACGGA	0.557													T	63170245	C	T	63170245	2	4	161	1	0	0	0	0	0	0	0	1	16148	523	19	1		1	TMEM26	10	63170245	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	9093811	63170245	72364502	41	11246											
RUFY2	55680	broad.mit.edu	37	10	70154149	70154149	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:70154149A>G	uc001job.3	-	4	890	c.563T>C	c.(562-564)cTg>cCg	p.L188P	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.L119P|RUFY2_uc010qiw.2_Missense_Mutation_p.L95P|RUFY2_uc001jod.1_Missense_Mutation_p.L153P|RUFY2_uc009xpv.1_Missense_Mutation_p.L36P|RUFY2_uc001joe.1_Missense_Mutation_p.L153P	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	202	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCCAACCAGCAGCCCAACAAT	0.383													G	70154149	A	G	70154149	3	3	161	1	0	0	0	0	1	0	0	0	13739	188	7	4	1531	4	RUFY2	10	70154149	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	6983904	70154149	65380598	42	11247											
COL17A1	1308	broad.mit.edu	37	10	105815707	105815707	+	Missense_Mutation	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:105815707C>A	uc001kxr.3	-	17	1689	c.1520G>T	c.(1519-1521)aGg>aTg	p.R507M	COL17A1_uc010qqv.1_Missense_Mutation_p.R491M	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	507	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGTATGCTCCTCCTGATCCT	0.597													A	105815707	C	A	105815707	3	1	161	1	0	0	0	0	1	0	0	0	3674	681	24	5	3129	5	COL17A1	10	105815707	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	35661558	105815707	29719040	43	11248											
UBQLN3	50613	broad.mit.edu	37	11	5529360	5529360	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:5529360G>A	uc021qcw.1	-	0	1429	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.L477L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	477										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGATGGCAGCCAGGGAGGC	0.552													A	5529360	G	A	5529360	2	1	161	1	0	0	0	0	0	0	0	1	16895	962	34	3		3	UBQLN3	11	5529360	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		5529360	129477156	44	11249											
DCHS1	8642	broad.mit.edu	37	11	6646055	6646055	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:6646055G>A	uc001mem.1	-	19	7592	c.7191C>T	c.(7189-7191)tcC>tcT	p.S2397S	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2397	Cadherin 23.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGAGACGGAGAGAATGG	0.557													A	6646055	G	A	6646055	2	1	161	1	0	0	0	0	0	0	0	1	4287	1103	39	2		2	DCHS1	11	6646055	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	1116695	6646055	128360461	45	11250											
RAG1	5896	broad.mit.edu	37	11	36597064	36597064	+	Missense_Mutation	SNP	G	G	A	rs104894286		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:36597064G>A	uc021qgb.1	+	0	2210	c.2210G>A	c.(2209-2211)cGt>cAt	p.R737H	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R737H	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	737			R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGCCACCCGTCTGGAAGCC	0.502									Familial Hemophagocytic Lymphohistiocytosis				A	36597064	G	A	36597064	3	1	161	1	0	0	0	0	1	0	0	0	13003	1145	40	1	2212	1	RAG1	11	36597064	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	29951009	36597064	98409452	46	11251											
OR5D18	219438	broad.mit.edu	37	11	55587399	55587399	+	Silent	SNP	C	C	T	rs147156620	by1000genomes	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:55587399C>T	uc010rin.2	+	0	294	c.294C>T	c.(292-294)tgC>tgT	p.C98C		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TTTTAGGATGCGTAGTACAAT	0.433													T	55587399	C	T	55587399	2	4	161	1	0	0	0	0	0	0	0	1	11157	776	27	1		1	OR5D18	11	55587399	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	18990335	55587399	79419117	47	11252											
OR8J3	81168	broad.mit.edu	37	11	55904467	55904467	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:55904467G>A	uc010riz.2	-	0	728	c.728C>T	c.(727-729)tCg>tTg	p.S243L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A242T(1)|p.S243S(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)					TATCATATGCGAAGCGCAGGT	0.403													A	55904467	G	A	55904467	3	1	161	1	0	0	0	0	1	0	0	0	11242	1059	37	2	221	2	OR8J3	11	55904467	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	317068	55904467	79102049	48	11253											
SLC43A3	29015	broad.mit.edu	37	11	57193641	57193641	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:57193641G>A	uc010rjr.2	-	2	347	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SLC43A3_uc001nke.3_5'Flank|SLC43A3_uc001nkg.3_Missense_Mutation_p.A2V|SLC43A3_uc001nkh.3_Missense_Mutation_p.A2V|SLC43A3_uc009yme.3_Missense_Mutation_p.A2V|SLC43A3_uc001nki.3_Missense_Mutation_p.A2V|SLC43A3_uc009ymf.1_Missense_Mutation_p.A2V|SLC43A3_uc010rjs.1_Missense_Mutation_p.A2V|SLC43A3_uc009ymg.1_Missense_Mutation_p.A2V	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	2					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCCCTGGCCCGCCATGAGCAG	0.587													A	57193641	G	A	57193641	3	1	161	1	0	0	0	0	1	0	0	0	14634	1087	38	1	1518	1	SLC43A3	11	57193641	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	1289174	57193641	77812875	49	11254											
DYNC2H1	79659	broad.mit.edu	37	11	103006524	103006524	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:103006524C>T	uc001phn.1	+	16	2565	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.I807I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	807	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGATTCATCGGCATTCCAA	0.343													T	103006524	C	T	103006524	2	4	161	1	0	0	0	0	0	0	0	1	4846	874	31	2		2	DYNC2H1	11	103006524	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	45812883	103006524	31999992	50	11255											
CD163L1	283316	broad.mit.edu	37	12	7519881	7519881	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:7519881C>T	uc010sge.2	-	17	4286	c.4260G>A	c.(4258-4260)gaG>gaA	p.E1420E	CD163L1_uc001qsy.3_Silent_p.E1410E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1410						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGTCTCCATCTCATGGAATA	0.498													T	7519881	C	T	7519881	2	4	161	1	0	0	0	0	0	0	0	1	2968	912	32	3		3	CD163L1	12	7519881	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08		7519881	126332014	51	11256											
KRT18	3875	broad.mit.edu	37	12	53346096	53346096	+	Missense_Mutation	SNP	G	G	A	rs147541172	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:53346096G>A	uc001sbe.3	+	6	1211	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	KRT18_uc009zmn.2_Missense_Mutation_p.R381H|KRT18_uc001sbg.3_Missense_Mutation_p.R381H|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	381	Coil 2.|Interaction with DNAJB6.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCCACCTACCGCCGCCTGCTG	0.602													A	53346096	G	A	53346096	3	1	161	1	0	0	0	0	1	0	0	0	8455	1087	38	1	1164	1	KRT18	12	53346096	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	45826215	53346096	80505799	52	11257											
ACACB	32	broad.mit.edu	37	12	109693958	109693958	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:109693958G>A	uc001tob.3	+	44	6299	c.6180G>A	c.(6178-6180)acG>acA	p.T2060T	ACACB_uc001toc.3_Silent_p.T2060T|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.T726T	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2060	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGAAGGGAACGTGGCAGAGCG	0.602													A	109693958	G	A	109693958	2	1	161	1	0	0	0	0	0	0	0	1	107	1132	40	1		1	ACACB	12	109693958	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	56347862	109693958	24157937	53	11258											
PITPNM2	57605	broad.mit.edu	37	12	123473301	123473301	+	Silent	SNP	T	T	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:123473301T>C	uc001uej.1	-	17	3049	c.2850A>G	c.(2848-2850)tcA>tcG	p.S950S	PITPNM2_uc001uek.1_Silent_p.S944S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	950	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCACGTCTGTTGACTCCCAGT	0.632													C	123473301	T	C	123473301	2	2	161	1	0	0	0	0	0	0	0	1	11951	1799	63	4		4	PITPNM2	12	123473301	Silent	SNP	T	TCGA-19-4068-01A-01D-1353-08	13779343	123473301	10378594	54	11259											
MYH6	4624	broad.mit.edu	37	14	23861788	23861789	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr14:23861788_23861789delTC	uc001wjv.3	-	24	3395_3396	c.3324_3325delGA	c.(3322-3327)aagaaafs	p.K1108fs		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1108					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTTCAGTTTCTTCTGTAGTT	0.505													-	23861789	TC	-	23861788	7	5	161	1	0	1	0	1	0	0	0	0	10038	1792	62	0	2554	0	MYH6	14	23861788	Frame_Shift_Del	DEL	TC	TCGA-19-4068-01A-01D-1353-08		23861788	83487752	55	11260											
SPTBN5	51332	broad.mit.edu	37	15	42160382	42160382	+	Missense_Mutation	SNP	C	C	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:42160382C>A	uc001zos.3	-	33	6320	c.5987G>T	c.(5986-5988)cGg>cTg	p.R1996L	MIR4310_uc021sjo.1_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2031					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACCTGGTCCCGCTGGTCCTG	0.642													A	42160382	C	A	42160382	3	1	161	1	0	0	0	0	1	0	0	0	15121	652	23	5	5072	5	SPTBN5	15	42160382	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		42160382	60371010	56	11261											
ATP8B4	79895	broad.mit.edu	37	15	50209193	50209193	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:50209193G>A	uc001zxu.3	-	19	2221	c.2079C>T	c.(2077-2079)gaC>gaT	p.D693D	ATP8B4_uc010ber.3_Silent_p.D566D|ATP8B4_uc010ufd.2_Silent_p.D503D|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	693					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATTCATGTCGTCAGTCAGCA	0.408													A	50209193	G	A	50209193	2	1	161	1	0	0	0	0	0	0	0	1	1197	1136	40	1		1	ATP8B4	15	50209193	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	8048811	50209193	52322199	57	11262											
SH3GL3	6457	broad.mit.edu	37	15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:84257442C>T	uc002bjw.3	+	7	952	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SH3GL3_uc010uot.1_Nonsense_Mutation_p.R253*|SH3GL3_uc002bjx.3_Nonsense_Mutation_p.R184*|SH3GL3_uc002bju.3_Nonsense_Mutation_p.R261*|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	253	Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458													T	84257442	C	T	84257442	4	4	161	1	0	0	0	0	0	1	0	0	14252	528	19	1	787	1	SH3GL3	15	84257442	Nonsense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	34048249	84257442	18273950	58	11263											
DNAH9	1770	broad.mit.edu	37	17	11865572	11865572	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:11865572A>G	uc002gne.3	+	68	13301	c.13233_splice	c.e68+1	p.Q4411_splice	DNAH9_uc010coo.3_Splice_Site_p.Q3629_splice|DNAH9_uc002gnf.3_Splice_Site_p.Q723_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4411					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		TGGGACACACAGGTAAAGCTT	0.473													G	11865572	A	G	11865572	3	3	161	1	0	0	0	0	1	0	0	0	4608	202	7	4	13502	4	DNAH9	17	11865572	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08		11865572	69329638	59	11264											
ALDH3A1	218	broad.mit.edu	37	17	19642827	19642827	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:19642827G>A	uc002gwk.3	-	5	1724	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	ALDH3A1_uc010cqu.3_Silent_p.N370N|ALDH3A1_uc010vzd.2_Silent_p.N370N|ALDH3A1_uc002gwj.3_Silent_p.N370N|ALDH3A1_uc010cqv.3_Silent_p.N369N|ALDH3A1_uc002gwl.1_Silent_p.N297N			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	370					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCACCTTGTCGTTGCTGGAGA	0.632													A	19642827	G	A	19642827	2	1	161	1	0	0	0	0	0	0	0	1	497	1136	40	1		1	ALDH3A1	17	19642827	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	7777255	19642827	61552383	60	11265											
DNAI2	64446	broad.mit.edu	37	17	72283178	72283178	+	Silent	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:72283178C>T	uc002jkf.3	+	3	518	c.408C>T	c.(406-408)gaC>gaT	p.D136D	DNAI2_uc002jkg.3_Silent_p.D136D|DNAI2_uc010dfp.3_Intron	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	136					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATTTCAATGACGAGGAGGCCA	0.507									Kartagener syndrome				T	72283178	C	T	72283178	2	4	161	1	0	0	0	0	0	0	0	1	4610	535	19	1		1	DNAI2	17	72283178	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	52640351	72283178	8912032	61	11266											
AFG3L2	10939	broad.mit.edu	37	18	12356814	12356814	+	Missense_Mutation	SNP	C	C	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr18:12356814C>G	uc002kqz.2	-	8	1237	c.1043G>C	c.(1042-1044)gGt>gCt	p.G348A		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	348					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCCTGGAGGACCAGTGAGAAT	0.418													G	12356814	C	G	12356814	3	3	161	1	0	0	0	0	1	0	0	0	360	507	18	5	1386	5	AFG3L2	18	12356814	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		12356814	65720434	62	11267											
DSG4	147409	broad.mit.edu	37	18	28986155	28986155	+	Silent	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr18:28986155A>G	uc002kwr.2	+	11	1887	c.1752A>G	c.(1750-1752)ttA>ttG	p.L584L	DSG4_uc002kwq.2_Silent_p.L584L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	584					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			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)			TGGTGCAGTTATATGCCTGTG	0.483													G	28986155	A	G	28986155	2	3	161	1	0	0	0	0	0	0	0	1	4779	446	16	4		4	DSG4	18	28986155	Silent	SNP	A	TCGA-19-4068-01A-01D-1353-08	16629341	28986155	49091093	63	11268											
THEG	51298	broad.mit.edu	37	19	362390	362390	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:362390C>T	uc002lol.3	-	7	993	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	THEG_uc002lom.3_Missense_Mutation_p.R293Q	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	317					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCGAGGATCTCGGTCAGGAAC	0.597													T	362390	C	T	362390	3	4	161	1	0	0	0	0	1	0	0	0	15854	884	31	2	193	2	THEG	19	362390	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		362390	58766593	64	11269											
GPX4	2879	broad.mit.edu	37	19	1105195	1105195	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:1105195G>A	uc021umh.1	+	1	291	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	GPX4_uc021umg.1_Missense_Mutation_p.R32Q|GPX4_uc021umf.1_Missense_Mutation_p.R32Q	NM_001039848	NP_002076	P36969	GPX4_HUMAN	Homo sapiens glutathione peroxidase 4 (phospholipid hydroperoxidase) (GPX4), transcript variant 3, mRNA.	32					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		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;0.000172)|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)	Glutathione(DB00143)	TGCGCGTCCCGGGACGACTGG	0.672													A	1105195	G	A	1105195	3	1	161	1	0	0	0	0	1	0	0	0	6742	1116	39	2	300	2	GPX4	19	1105195	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	742805	1105195	58023788	65	11270											
CD209	30835	broad.mit.edu	37	19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:7808071C>T	uc002mht.2	-	6	1136	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_uc010xju.1_Missense_Mutation_p.A196T|CD209_uc010dvp.2_Missense_Mutation_p.R295H|CD209_uc002mhr.2_Missense_Mutation_p.A333T|CD209_uc002mhs.2_Missense_Mutation_p.A287T|CD209_uc002mhu.2_Missense_Mutation_p.A265T|CD209_uc010dvq.2_Missense_Mutation_p.A351T|CD209_uc002mhq.2_Missense_Mutation_p.A357T|CD209_uc002mhv.2_Missense_Mutation_p.A333T|CD209_uc002mhx.2_Missense_Mutation_p.A313T|CD209_uc002mhw.2_Missense_Mutation_p.A221T|CD209_uc010dvr.2_Missense_Mutation_p.A121T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	357	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527													T	7808071	C	T	7808071	3	4	161	1	0	0	0	0	1	0	0	0	2984	768	27	1	149	1	CD209	19	7808071	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	6702876	7808071	51320912	66	11271											
MUC16	94025	broad.mit.edu	37	19	9072932	9072932	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:9072932G>A	uc002mkp.3	-	2	14718	c.14514C>T	c.(14512-14514)acC>acT	p.T4838T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4840	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T4837T(1)		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						ATGCTGAACCGGTGGTCCCCA	0.463													A	9072932	G	A	9072932	2	1	161	1	0	0	0	0	0	0	0	1	9973	1103	39	2		2	MUC16	19	9072932	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	1264861	9072932	50056051	67	11272											
ZNF345	25850	broad.mit.edu	37	19	37368940	37368940	+	Missense_Mutation	SNP	G	G	C			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:37368940G>C	uc002oex.3	+	2	1589	c.1208G>C	c.(1207-1209)tGt>tCt	p.C403S	ZNF345_uc021utn.1_Missense_Mutation_p.C403S|ZNF345_uc002oey.4_Missense_Mutation_p.C403S|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.C403S|ZNF345_uc021utp.1_Missense_Mutation_p.C403S|ZNF345_uc021utq.1_Missense_Mutation_p.C403S	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	403					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	p.E402Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAAAGAATGTGGAAAGTCC	0.418													C	37368940	G	C	37368940	3	2	161	1	0	0	0	0	1	0	0	0	17856	1377	48	5	1210	5	ZNF345	19	37368940	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	28296008	37368940	21760043	68	11273											
KLC3	147700	broad.mit.edu	37	19	45849928	45849929	+	Frame_Shift_Ins	INS	-	-	G	rs141629020	by1000genomes	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:45849928_45849929insG	uc002pbg.1	+	1	527_528	c.427_428insG	c.(427-429)cggfs	p.R143fs	KLC3_uc002pbe.3_Frame_Shift_Ins_p.R129fs|KLC3_uc002pbf.1_Frame_Shift_Ins_p.R129fs|KLC3_uc010ejy.1_Frame_Shift_Ins_p.R129fs	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	129						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GACGCAGCGGCGGCTTCGGGCC	0.713													G	45849929	-	G	45849928	7	5	161	1	0	1	1	0	0	0	0	0	8335	759	27	0	391	0	KLC3	19	45849928	Frame_Shift_Ins	INS	-	TCGA-19-4068-01A-01D-1353-08	8480988	45849928	13279055	69	11274											
KIR3DL2	3811	broad.mit.edu	37	19	55341632	55341632	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:55341632C>T	uc002qhm.1	+						KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.R413C|KIR3DL2_uc010esf.3_Missense_Mutation_p.R318C|KIR3DL2_uc021vbo.1_Missense_Mutation_p.R396C|KIR3DL2_uc002qhk.4_Missense_Mutation_p.R413C|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_5'Flank	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.						cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAAAATCACTCGCCCTTCTCA	0.507													T	55341632	C	T	55341632	3	4	161	1	0	0	0	0	1	0	0	0	8321	884	31	2		2	KIR3DL2	19	55341632	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	9491704	55341632	3787351	70	11275											
TOP1	7150	broad.mit.edu	37	20	39726941	39726941	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr20:39726941G>A	uc002xjl.3	+	10	1185	c.939G>A	c.(937-939)acG>acA	p.T313T		NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	313					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	AAGCCCAGACGGAAGCTCGGA	0.368			T	NUP98	AML*								A	39726941	G	A	39726941	2	1	161	1	0	0	0	0	0	0	0	1	16360	1103	39	2		2	TOP1	20	39726941	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		39726941	23298579	71	11276											
SLC12A5	57468	broad.mit.edu	37	20	44665416	44665416	+	Missense_Mutation	SNP	A	A	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr20:44665416A>G	uc010zxl.1	+	4	608	c.532A>G	c.(532-534)Acg>Gcg	p.T178A	SLC12A5_uc002xra.2_Missense_Mutation_p.T155A|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.T155A	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	178					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			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)	TGCAATTGCAACGAATGGTGT	0.612													G	44665416	A	G	44665416	3	3	161	1	0	0	0	0	1	0	0	0	14386	43	2	4	606	4	SLC12A5	20	44665416	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	4938475	44665416	18360104	72	11277											
TFF2	7032	broad.mit.edu	37	21	43767708	43767708	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:43767708C>T	uc002zaw.3	-	2	405	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_005423	NP_005414	Q03403	TFF2_HUMAN	Homo sapiens trefoil factor 2 (TFF2), mRNA.	88	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						ACAGTTTCTTCGGTCTGAGAC	0.602													T	43767708	C	T	43767708	3	4	161	1	0	0	0	0	1	0	0	0	15801	884	31	2	134	2	TFF2	21	43767708	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		43767708	4362187	73	11278											
KRTAP10-2	386679	broad.mit.edu	37	21	45970888	45970888	+	Missense_Mutation	SNP	C	C	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:45970888C>T	uc002zfi.1	-	0	501	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	152	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CAGGTGGGCACGCAGCACACA	0.617													T	45970888	C	T	45970888	3	4	161	1	0	0	0	0	1	0	0	0	8509	536	19	1	317	1	KRTAP10-2	21	45970888	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	2203180	45970888	2159007	74	11279											
KRTAP10-7	386675	broad.mit.edu	37	21	46021573	46021573	+	Missense_Mutation	SNP	T	T	G			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:46021573T>G	uc002zfn.4	+	1	1062	c.1037T>G	c.(1036-1038)gTg>gGg	p.V346G	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	351	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCCTCCTGTGTGTCTCTCCTT	0.672													G	46021573	T	G	46021573	3	3	161	1	0	0	0	0	1	0	0	0	8514	1696	59	5	1043	5	KRTAP10-7	21	46021573	Missense_Mutation	SNP	T	TCGA-19-4068-01A-01D-1353-08	50685	46021573	2108322	75	11280											
CDC42EP1	11135	broad.mit.edu	37	22	37964570	37964570	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr22:37964570G>A	uc003asz.4	+	2	1322	c.919G>A	c.(919-921)Ggg>Agg	p.G307R		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	307					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCAGTGGGAGGGGGTCCCCG	0.692													A	37964570	G	A	37964570	3	1	161	1	0	0	0	0	1	0	0	0	3075	1000	35	3	925	3	CDC42EP1	22	37964570	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		37964570	13339996	76	11281											
ZMYM3	9203	broad.mit.edu	37	X	70466243	70466243	+	Silent	SNP	G	G	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:70466243G>T	uc004dzh.2	-	14	2711	c.2532C>A	c.(2530-2532)gtC>gtA	p.V844V	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.V844V|ZMYM3_uc004dzj.2_Silent_p.V832V	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	844					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCTTGCAGGAGACGCCCCGAT	0.597													T	70466243	G	T	70466243	2	4	161	1	0	0	0	0	0	0	0	1	17698	929	33	5		5	ZMYM3	23	70466243	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		70466243	84804317	77	11282											
ERCC6L	54821	broad.mit.edu	37	X	71428507	71428507	+	Missense_Mutation	SNP	A	A	T			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:71428507A>T	uc004eaq.1	-	1	207	c.110T>A	c.(109-111)cTg>cAg	p.L37Q	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_5'UTR	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	37					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCTTCTTCCAGGTCTCCATT	0.363													T	71428507	A	T	71428507	3	4	161	1	0	0	0	0	1	0	0	0	5218	188	7	5	3646	5	ERCC6L	23	71428507	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	962264	71428507	83842053	78	11283											
SLC6A14	11254	broad.mit.edu	37	X	115590033	115590033	+	Missense_Mutation	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:115590033G>A	uc004eqi.3	+	13	1972	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	614					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GAACAACATCGTGGGGAAAGA	0.403													A	115590033	G	A	115590033	3	1	161	1	0	0	0	0	1	0	0	0	14677	1145	40	1	1895	1	SLC6A14	23	115590033	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	44161526	115590033	39680527	79	11284											
ZNF280C	55609	broad.mit.edu	37	X	129339341	129339341	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:129339341G>A	uc004evm.3	-	16	2294	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S		NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S696Y(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATCTAAGCCGGAAGAATCAG	0.323													A	129339341	G	A	129339341	2	1	161	1	0	0	0	0	0	0	0	1	17813	1103	39	2		2	ZNF280C	23	129339341	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	13749308	129339341	25931219	80	11285											
F9	2158	broad.mit.edu	37	X	138643870	138643870	+	Silent	SNP	G	G	A			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:138643870G>A	uc004fas.1	+	7	1055	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	F9_uc004fat.1_Silent_p.T304T	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	342	Peptidase S1.		T -> K (in HEMB; mild).|T -> M (in HEMB; moderate).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGGAATACACGAACATCTTCC	0.433													A	138643870	G	A	138643870	2	1	161	1	0	0	0	0	0	0	0	1	5351	1045	37	2		2	F9	23	138643870	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	9304529	138643870	16626690	81	11286											
F8	2157	broad.mit.edu	37	X	154194774	154194774	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:154194774delT	uc004fmt.3	-	7	1369	c.1198delA	c.(1198-1200)actfs	p.T400fs		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	400	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTACCCAAGTTTTAGGATGC	0.448													-	154194774	T	-	154194774	7	5	161	1	0	1	0	1	0	0	0	0	5350	1725	60	0	5961	0	F8	23	154194774	Frame_Shift_Del	DEL	T	TCGA-19-4068-01A-01D-1353-08	15550904	154194774	1075786	82	11287											
RERE	473	broad.mit.edu	37	1	8424241	8424242	+	Frame_Shift_Ins	INS	-	-	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:8424241_8424242insT	uc001ape.3	-	15	2424_2425	c.1614_1615insA	c.(1612-1617)aaatacfs	p.K538fs	RERE_uc001apf.3_Frame_Shift_Ins_p.K538fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.K270fs|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	538					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGCTCACCGTATTTCTTGAAGT	0.569													T	8424242	-	T	8424241	7	5	162	1	0	1	1	0	0	0	0	0	13231	449	16	0	3121	0	RERE	1	8424241	Frame_Shift_Ins	INS	-	TCGA-19-5947-01A-11D-1696-08		8424241	240826380	1	11288											
MSH4	4438	broad.mit.edu	37	1	76288094	76288094	+	Silent	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:76288094G>A	uc001dhd.2	+	7	1105	c.990_splice	c.e7-1	p.R330_splice		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	330					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GTTTTGAAAGGAATAATCACA	0.308								Mismatch excision repair (MMR)					A	76288094	G	A	76288094	2	1	162	1	0	0	0	0	0	0	0	1	9872	1188	41	3		3	MSH4	1	76288094	Silent	SNP	G	TCGA-19-5947-01A-11D-1696-08	67863853	76288094	172962527	2	11289											
RPL5	6125	broad.mit.edu	37	1	93303161	93303161	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:93303161T>C	uc001doz.3	+	5	754	c.676T>C	c.(676-678)Tac>Cac	p.Y226H	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.Y176H|RPL5_uc001dpd.3_Missense_Mutation_p.Y27H|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	226					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GTTCTCTCAATACATAAAGAA	0.368													C	93303161	T	C	93303161	3	2	162	1	0	0	0	0	1	0	0	0	13597	1406	49	4	698	4	RPL5	1	93303161	Missense_Mutation	SNP	T	TCGA-19-5947-01A-11D-1696-08	17015067	93303161	155947460	3	11290											
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:169833511delT	uc001ggs.2	-	9	1153	c.955_splice	c.e9+1	p.D319_splice	SCYL3_uc010plw.1_Splice_Site|SCYL3_uc001ggt.2_Splice_Site_p.D319_splice	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	319					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393													-	169833511	T	-	169833511	7	5	162	1	0	1	0	1	0	0	0	0	13949	1623	56	0	1298	0	SCYL3	1	169833511	Frame_Shift_Del	DEL	T	TCGA-19-5947-01A-11D-1696-08	76530350	169833511	79417110	4	11291											
GALNT14	79623	broad.mit.edu	37	2	31360949	31360949	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr2:31360949G>A	uc002rns.3	-	0	644	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	GALNT14_uc010ymr.2_5'UTR|GALNT14_uc002rnr.3_Missense_Mutation_p.R2W|GALNT14_uc010ezo.2_Missense_Mutation_p.R2W|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	2						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			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)					GTCAGGCGCCGCATGGTCCCC	0.682													A	31360949	G	A	31360949	3	1	162	1	0	0	0	0	1	0	0	0	6212	1086	38	1	1714	1	GALNT14	2	31360949	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08		31360949	211838424	5	11292											
RCAN2	51776	broad.mit.edu	37	2	174104210	174104210	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr2:174104210G>A	uc002uhz.3	+	15	1545	c.1345G>A	c.(1345-1347)Gga>Aga	p.G449R	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTTGAAACCAGGAACTGGCCC	0.398													A	174104210	G	A	174104210	3	1	162	1	0	0	0	0	1	0	0	0	13169	1001	35	3		3	RCAN2	2	174104210	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	142743261	174104210	69095163	6	11293											
LMCD1	29995	broad.mit.edu	37	3	8574487	8574487	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:8574487C>T	uc003bqq.3	+	1	221	c.107C>T	c.(106-108)tCg>tTg	p.S36L	LMCD1_uc011atd.2_Intron|LMCD1_uc011ate.2_Silent_p.F9F	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	36	Cys-rich.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGGACGTGTTCGGGCTTCGAG	0.537													T	8574487	C	T	8574487	3	4	162	1	0	0	0	0	1	0	0	0	8844	893	31	2	113	2	LMCD1	3	8574487	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		8574487	189447943	7	11294											
TLR9	54106	broad.mit.edu	37	3	52257538	52257538	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:52257538C>A	uc003ddb.3	-	4	1295	c.1085G>T	c.(1084-1086)tGc>tTc	p.C362F	TLR9_uc003dda.2_Missense_Mutation_p.C265F	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	265					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GCACTCCATGCAGGGGTTGGG	0.617													A	52257538	C	A	52257538	3	1	162	1	0	0	0	0	1	0	0	0	15955	710	25	5	2308	5	TLR9	3	52257538	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08	43683051	52257538	145764892	8	11295											
PIK3CA	5290	broad.mit.edu	37	3	178921548	178921548	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:178921548G>A	uc003fjk.3	+	4	1187	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	344					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.V344M(9)|p.V344G(5)|p.V344A(3)|p.Y343C(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGCAACCTACGTGAATGTAAA	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178921548	G	A	178921548	3	1	162	1	0	0	0	0	1	0	0	0	11913	1145	40	1	1044	1	PIK3CA	3	178921548	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	126664010	178921548	19100882	9	11296											
PIK3R1	5295	broad.mit.edu	37	5	67591152	67591152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:67591152delT	uc003jva.3	+	13	2325	c.1745_splice	c.e13+1	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAATACTTGATGTAAGTATTT	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591152	T	-	67591152	7	5	162	1	0	1	0	1	0	0	0	0	11918	1478	51	0	1921	0	PIK3R1	5	67591152	Frame_Shift_Del	DEL	T	TCGA-19-5947-01A-11D-1696-08		67591152	113324108	10	11297											
AFF4	27125	broad.mit.edu	37	5	132227876	132227877	+	Frame_Shift_Ins	INS	-	-	G			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:132227876_132227877insG	uc003kyd.3	-	12	3024_3025	c.2616_2617insC	c.(2614-2619)tccagtfs	p.S872fs	AFF4_uc011cxk.2_Frame_Shift_Ins_p.S550fs|AFF4_uc003kye.1_Frame_Shift_Ins_p.S872fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	872	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGAGCTACTGGAAGTCTTCC	0.47													G	132227877	-	G	132227876	7	5	162	1	0	1	1	0	0	0	0	0	359	1580	55	0	910	0	AFF4	5	132227876	Frame_Shift_Ins	INS	-	TCGA-19-5947-01A-11D-1696-08	64636724	132227876	48687384	11	11298											
PCDHAC2	56142	broad.mit.edu	37	5	140209539	140209539	+	Silent	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:140209539G>A	uc003lho.2	+	0	1890	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.P621P	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTTCCCGTTTCGCGTGG	0.657													A	140209539	G	A	140209539	2	1	162	1	0	0	0	0	0	0	0	1	11533	1132	40	1		1	PCDHAC2	5	140209539	Silent	SNP	G	TCGA-19-5947-01A-11D-1696-08	7981663	140209539	40705721	12	11299											
SH3RF2	153769	broad.mit.edu	37	5	145439569	145439569	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:145439569G>A	uc003lnt.3	+	8	1934	c.1696G>A	c.(1696-1698)Gtg>Atg	p.V566M	SH3RF2_uc011dbl.1_Missense_Mutation_p.V566M|SH3RF2_uc011dbm.1_Missense_Mutation_p.V51M|SH3RF2_uc003lnu.3_Missense_Mutation_p.V57M|SH3RF2_uc011dbn.1_Missense_Mutation_p.V57M|SH3RF2_uc011dbo.2_Missense_Mutation_p.V23M	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	566							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCTCAGCCGTGGTGGTGGA	0.672													A	145439569	G	A	145439569	3	1	162	1	0	0	0	0	1	0	0	0	14259	1145	40	1	1726	1	SH3RF2	5	145439569	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	5230030	145439569	35475691	13	11300											
RIMS1	22999	broad.mit.edu	37	6	72957754	72957754	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr6:72957754C>A	uc003pga.3	+	11	2242	c.2165C>A	c.(2164-2166)cCt>cAt	p.P722H	RIMS1_uc011dyb.2_Missense_Mutation_p.P348H|RIMS1_uc003pgc.3_Missense_Mutation_p.P348H|RIMS1_uc010kaq.3_Missense_Mutation_p.P196H|RIMS1_uc011dyc.2_Missense_Mutation_p.P196H|RIMS1_uc010kar.3_Missense_Mutation_p.P115H|RIMS1_uc011dyd.2_Missense_Mutation_p.P181H|RIMS1_uc003pge.3_5'Flank|RIMS1_uc003pgf.3_5'Flank|RIMS1_uc003pgi.3_5'Flank|RIMS1_uc003pgg.3_5'Flank|RIMS1_uc003pgh.3_5'Flank|RIMS1_uc003pgd.3_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.P348H|RIMS1_uc010kas.1_Missense_Mutation_p.P181H	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	722					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGGAAAGGCCTTCCATTTCT	0.333													A	72957754	C	A	72957754	3	1	162	1	0	0	0	0	1	0	0	0	13367	681	24	5	2374	5	RIMS1	6	72957754	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		72957754	98157313	14	11301											
DENND2A	27147	broad.mit.edu	37	7	140301861	140301861	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr7:140301861C>T	uc010lnk.3	-	2	857	c.337G>A	c.(337-339)Gga>Aga	p.G113R	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.G113R|DENND2A_uc003vvw.3_Missense_Mutation_p.G113R|DENND2A_uc003vvx.3_Missense_Mutation_p.G113R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	113										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCACTGCTCCTTTATTCCTC	0.587													T	140301861	C	T	140301861	3	4	162	1	0	0	0	0	1	0	0	0	4429	690	24	3	2764	3	DENND2A	7	140301861	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		140301861	18836802	15	11302											
RAG2	5897	broad.mit.edu	37	11	36615451	36615451	+	Missense_Mutation	SNP	G	G	C	rs149769148		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:36615451G>C	uc021qge.1	-	0	268	c.268C>G	c.(268-270)Caa>Gaa	p.Q90E	RAG2_uc021qgc.1_Missense_Mutation_p.Q90E|RAG2_uc021qgd.1_Missense_Mutation_p.Q90E|RAG2_uc001mwv.4_Missense_Mutation_p.Q90E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	90					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATGATGTATTGATGCTTTTCA	0.413									Familial Hemophagocytic Lymphohistiocytosis				C	36615451	G	C	36615451	3	2	162	1	0	0	0	0	1	0	0	0	13005	1299	45	5	1319	5	RAG2	11	36615451	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08		36615451	98391065	16	11303											
KDELC2	143888	broad.mit.edu	37	11	108361783	108361783	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:108361783C>T	uc001pkj.2	-	1	380	c.314G>A	c.(313-315)aGg>aAg	p.R105K	KDELC2_uc001pki.2_Missense_Mutation_p.R49K	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	105						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TTCATACATCCTATATCTCAT	0.388													T	108361783	C	T	108361783	3	4	162	1	0	0	0	0	1	0	0	0	8118	681	24	3	1237	3	KDELC2	11	108361783	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08	71746332	108361783	26644733	17	11304											
ESAM	90952	broad.mit.edu	37	11	124623728	124623728	+	Silent	SNP	A	A	C			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:124623728A>C	uc001qav.4	-	6	1160	c.987T>G	c.(985-987)ggT>ggG	p.G329G	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Silent_p.G256G|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	329					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGTCAATGCACCAGGCCTGG	0.647													C	124623728	A	C	124623728	2	2	162	1	0	0	0	0	0	0	0	1	5247	146	6	5		5	ESAM	11	124623728	Silent	SNP	A	TCGA-19-5947-01A-11D-1696-08	16261945	124623728	10382788	18	11305											
ANKRD33	341405	broad.mit.edu	37	12	52284586	52284586	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr12:52284586C>T	uc001rzd.3	+	4	1034	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.R161W|ANKRD33_uc001rze.3_Missense_Mutation_p.R182W|ANKRD33_uc001rzg.4_Missense_Mutation_p.R88W|ANKRD33_uc001rzi.4_Missense_Mutation_p.R161W	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	161										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACTCCTAGAACGGCTGCAGGC	0.662													T	52284586	C	T	52284586	3	4	162	1	0	0	0	0	1	0	0	0	661	527	19	1	904	1	ANKRD33	12	52284586	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		52284586	81567309	19	11306											
IGDCC3	9543	broad.mit.edu	37	15	65621380	65621380	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr15:65621380T>A	uc002aos.2	-	13	2564	c.2312A>T	c.(2311-2313)gAg>gTg	p.E771V	IGDCC3_uc002aor.1_Missense_Mutation_p.E57V	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	771										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCGTGGCCTCTGTGGTCTT	0.716													A	65621380	T	A	65621380	3	1	162	1	0	0	0	0	1	0	0	0	7568	1551	54	5	136	5	IGDCC3	15	65621380	Missense_Mutation	SNP	T	TCGA-19-5947-01A-11D-1696-08		65621380	36910012	20	11307											
RBBP6	5930	broad.mit.edu	37	16	24581255	24581256	+	Frame_Shift_Ins	INS	-	-	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr16:24581255_24581256insA	uc002dmh.3	+	16	4284_4285	c.3244_3245insA	c.(3244-3246)gaafs	p.E1082fs	RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E949fs|RBBP6_uc002dmi.3_Frame_Shift_Ins_p.E1048fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.E915fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1082	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCAGAAGGATGAAAAAATCACT	0.406													A	24581256	-	A	24581255	7	5	162	1	0	1	1	0	0	0	0	0	13103	1291	45	0	3364	0	RBBP6	16	24581255	Frame_Shift_Ins	INS	-	TCGA-19-5947-01A-11D-1696-08		24581255	65773498	21	11308											
CES3	23491	broad.mit.edu	37	16	66997813	66997813	+	Missense_Mutation	SNP	C	C	T	rs148620443	byFrequency	TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr16:66997813C>T	uc002eqt.3	+	3	614	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	CES3_uc010cdz.3_Missense_Mutation_p.R179C	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	179						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTCCAGTACCGCCTTGGGGT	0.607													T	66997813	C	T	66997813	3	4	162	1	0	0	0	0	1	0	0	0	3271	652	23	2	549	2	CES3	16	66997813	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08	42416558	66997813	23356940	22	11309											
SSTR2	6752	broad.mit.edu	37	17	71166297	71166297	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr17:71166297T>C	uc002jje.3	+	1	1199	c.839T>C	c.(838-840)gTc>gCc	p.V280A	SSTR2_uc021ucm.1_Missense_Mutation_p.V280A	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	280					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	p.V280I(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GTTTCTTCCGTCTCCATGGCC	0.512													C	71166297	T	C	71166297	3	2	162	1	0	0	0	0	1	0	0	0	15197	1667	58	4	841	4	SSTR2	17	71166297	Missense_Mutation	SNP	T	TCGA-19-5947-01A-11D-1696-08		71166297	10028913	23	11310											
CDH19	28513	broad.mit.edu	37	18	64178924	64178925	+	Splice_Site	INS	-	-	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr18:64178924_64178925insA	uc002lkc.1	-	10	1597	c.1459_splice	c.e10-1	p.V487_splice	CDH19_uc010dql.1_Splice_Site|CDH19_uc010xey.1_Intron	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	487	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTGAATTACCTAAAAAAAAAGG	0.317													A	64178925	-	A	64178924	8	5	162	1	0	1	1	0	0	0	1	0	3104	1536	53	0	873	0	CDH19	18	64178924	Splice_Site	INS	-	TCGA-19-5947-01A-11D-1696-08		64178924	13898324	24	11311											
ZNF516	9658	broad.mit.edu	37	18	74091275	74091275	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr18:74091275G>A	uc021ulp.1	-	3	3113	c.2795C>T	c.(2794-2796)aCg>aTg	p.T932M	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	932					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T932M(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GACGGTGGGCGTAGGGGTGGC	0.726													A	74091275	G	A	74091275	3	1	162	1	0	0	0	0	1	0	0	0	17957	1145	40	1	713	1	ZNF516	18	74091275	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	9912351	74091275	3985973	25	11312											
ZNF135	7694	broad.mit.edu	37	19	58578313	58578313	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr19:58578313C>T	uc002qrg.3	+	3	536	c.533C>T	c.(532-534)aCg>aTg	p.T178M	ZNF135_uc002qre.3_Missense_Mutation_p.T154M|ZNF135_uc002qrf.3_Missense_Mutation_p.T112M|ZNF135_uc010yhq.2_Missense_Mutation_p.T166M|ZNF135_uc010yhr.2_5'UTR|ZNF135_uc002qrd.2_Missense_Mutation_p.T166M|ZNF135_uc021vcu.1_Intron	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	166					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T178K(1)|p.T154K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCTGTGAAGACGCCTGTTCTG	0.557													T	58578313	C	T	58578313	3	4	162	1	0	0	0	0	1	0	0	0	17722	536	19	1	664	1	ZNF135	19	58578313	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		58578313	550670	26	11313											
SEMG2	6407	broad.mit.edu	37	20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	rs140069155		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr20:43851147C>T	uc010ggz.3	+	1	931	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	SEMG2_uc002xnk.3_Missense_Mutation_p.R292C|SEMG2_uc002xnl.3_Missense_Mutation_p.R292C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292S(2)|p.S291P(1)|p.R292H(1)|p.R292L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393													T	43851147	C	T	43851147	3	4	162	1	0	0	0	0	1	0	0	0	14045	536	19	1	880	1	SEMG2	20	43851147	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		43851147	19174373	27	11314											
CXorf66	347487	broad.mit.edu	37	X	139038184	139038184	+	Silent	SNP	T	T	C			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chrX:139038184T>C	uc004fbb.3	-	2	979	c.957A>G	c.(955-957)gcA>gcG	p.A319A		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	319						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GATCACCGTATGCATTGTTCC	0.383													C	139038184	T	C	139038184	2	2	162	1	0	0	0	0	0	0	0	1	4118	1451	51	4		4	CXorf66	23	139038184	Silent	SNP	T	TCGA-19-5947-01A-11D-1696-08		139038184	16232376	28	11315											
UBE2NL	389898	broad.mit.edu	37	X	142967295	142967295	+	Silent	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chrX:142967295C>T	uc004fca.3	+	0	123	c.93C>T	c.(91-93)aaC>aaT	p.N31N		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	31							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAAGCAACGCCCGTTATT	0.493													T	142967295	C	T	142967295	2	4	162	1	0	0	0	0	0	0	0	1	16864	535	19	1		1	UBE2NL	23	142967295	Silent	SNP	C	TCGA-19-5947-01A-11D-1696-08	3929111	142967295	12303265	29	11316											
EPHA8	2046	broad.mit.edu	37	1	22903296	22903296	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:22903296C>T	uc001bfx.1	+	2	871	c.746C>T	c.(745-747)gCg>gTg	p.A249V	EPHA8_uc001bfw.3_Missense_Mutation_p.A249V	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	249	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACTGCAGCGCGGAGGGCGAG	0.687													T	22903296	C	T	22903296	3	4	163	1	0	0	0	0	1	0	0	0	5173	768	27	1	756	1	EPHA8	1	22903296	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		22903296	226347325	1	11317											
TSSK3	81629	broad.mit.edu	37	1	32828323	32828323	+	Silent	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:32828323C>A	uc001bvf.3	+	0	462	c.21C>A	c.(19-21)tcC>tcA	p.S7S	LOC100128071_uc021oku.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	Homo sapiens testis-specific serine kinase 3 (TSSK3), mRNA.	7					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				TTCTGCTCTCCAATGGGTACC	0.502													A	32828323	C	A	32828323	2	1	163	1	0	0	0	0	0	0	0	1	16667	581	21	5		5	TSSK3	1	32828323	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08	9925027	32828323	216422298	2	11318											
GRIK3	2899	broad.mit.edu	37	1	37356541	37356541	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:37356541C>G	uc001caz.2	-	1	407	c.272G>C	c.(271-273)aGc>aCc	p.S91T	GRIK3_uc001cba.1_Missense_Mutation_p.S91T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	91					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGCCTCGAAGCTGTCATGGAA	0.527													G	37356541	C	G	37356541	3	3	163	1	0	0	0	0	1	0	0	0	6775	797	28	5	2547	5	GRIK3	1	37356541	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	4528218	37356541	211894080	3	11319											
SDC1	6382	broad.mit.edu	37	2	20403674	20403674	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr2:20403674T>C	uc002rdo.1	-	2	826	c.527A>G	c.(526-528)cAc>cGc	p.H176R	SDC1_uc002rdp.1_Missense_Mutation_p.H176R|SDC1_uc010exv.3_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	176					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GTGGGGAGTGTGAAGGTCAGC	0.662													C	20403674	T	C	20403674	3	2	163	1	0	0	0	0	1	0	0	0	13951	1696	59	4	417	4	SDC1	2	20403674	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08		20403674	222795699	4	11320											
KCNH8	131096	broad.mit.edu	37	3	19574895	19574895	+	Silent	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:19574895A>G	uc003cbk.1	+	15	2823	c.2628A>G	c.(2626-2628)acA>acG	p.T876T	KCNH8_uc010hex.1_Silent_p.T337T	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	876						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGGTAACAACATTGACTCAGG	0.413													G	19574895	A	G	19574895	2	3	163	1	0	0	0	0	0	0	0	1	8038	204	8	4		4	KCNH8	3	19574895	Silent	SNP	A	TCGA-19-5950-01A-11D-1696-08		19574895	178447535	5	11321											
ERC2	26059	broad.mit.edu	37	3	56468977	56468977	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:56468977C>T	uc021wzo.1	-	0	199	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ERC2_uc003dhr.1_Missense_Mutation_p.R20H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	20						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R20H(3)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468													T	56468977	C	T	56468977	3	4	163	1	0	0	0	0	1	0	0	0	5211	536	19	1	2868	1	ERC2	3	56468977	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	36894082	56468977	141553453	6	11322											
SLC33A1	9197	broad.mit.edu	37	3	155547581	155547581	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:155547581C>T	uc003fan.4	-	4	1840	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	SLC33A1_uc003fao.2_Missense_Mutation_p.G460R|SLC33A1_uc003fap.1_Non-coding_Transcript	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	460					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCAGTTTCCTCCCAGATTG	0.428													T	155547581	C	T	155547581	3	4	163	1	0	0	0	0	1	0	0	0	14566	690	24	3	279	3	SLC33A1	3	155547581	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	99078604	155547581	42474849	7	11323											
ABCG2	9429	broad.mit.edu	37	4	89061129	89061129	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr4:89061129C>T	uc003hrg.3	-	1	512	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	ABCG2_uc003hrh.3_Missense_Mutation_p.E7K|ABCG2_uc003hri.1_Missense_Mutation_p.E7K|ABCG2_uc003hrj.1_Missense_Mutation_p.E7K|ABCG2_uc003hrk.1_Missense_Mutation_p.E7K	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	7					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	p.E7D(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATAAAAACTTCGACATTACTG	0.413													T	89061129	C	T	89061129	3	4	163	1	0	0	0	0	1	0	0	0	69	893	31	2	2008	2	ABCG2	4	89061129	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		89061129	102093147	8	11324											
TRAM1L1	133022	broad.mit.edu	37	4	118005603	118005603	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr4:118005603A>G	uc003ibv.4	-	0	1134	c.947T>C	c.(946-948)aTt>aCt	p.I316T		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	316	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CCAGAGAGTAATTAAGTTCCA	0.408													G	118005603	A	G	118005603	3	3	163	1	0	0	0	0	1	0	0	0	16449	101	4	4	166	4	TRAM1L1	4	118005603	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	28944474	118005603	73148673	9	11325											
DNAH5	1767	broad.mit.edu	37	5	13901576	13901576	+	Missense_Mutation	SNP	C	C	T	rs141072655		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:13901576C>T	uc003jfd.2	-	13	1879	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	613	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					AGAGGAGGATCGTATTTCTGC	0.448									Kartagener syndrome				T	13901576	C	T	13901576	3	4	163	1	0	0	0	0	1	0	0	0	4604	884	31	2	12301	2	DNAH5	5	13901576	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		13901576	167013684	10	11326											
PRDM9	56979	broad.mit.edu	37	5	23527545	23527545	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:23527545G>A	uc003jgo.3	+	10	2530	c.2348G>A	c.(2347-2349)cGg>cAg	p.R783Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	783					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						GAGTGTGGGCGGGGCTTTAGA	0.577										HNSCC(3;0.000094)			A	23527545	G	A	23527545	3	1	163	1	0	0	0	0	1	0	0	0	12463	1116	39	2	2386	2	PRDM9	5	23527545	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	9625969	23527545	157387715	11	11327											
EMB	133418	broad.mit.edu	37	5	49698154	49698154	+	Splice_Site	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:49698154C>T	uc003jom.3	-	7	1127	c.878_splice	c.e7-1	p.D293_splice	EMB_uc010ivq.3_Splice_Site_p.D87_splice|EMB_uc003jol.3_Splice_Site_p.D224_splice|EMB_uc011cpy.2_Splice_Site_p.D243_splice	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	293						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTCCCCTCATCTGTGTAACAA	0.318													T	49698154	C	T	49698154	5	4	163	1	0	0	0	0	0	0	1	0	5085	927	32	3	118	3	EMB	5	49698154	Splice_Site	SNP	C	TCGA-19-5950-01A-11D-1696-08	26170609	49698154	131217106	12	11328											
OCLN	4950	broad.mit.edu	37	5	68805174	68805174	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:68805174C>T	uc003jwu.3	+	2	693	c.257C>T	c.(256-258)aCg>aTg	p.T86M	OCLN_uc003jwv.4_Missense_Mutation_p.T86M|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_5'UTR|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	86	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTGGCCTCCACGCTTGCCTGG	0.507													T	68805174	C	T	68805174	3	4	163	1	0	0	0	0	1	0	0	0	10820	536	19	1	263	1	OCLN	5	68805174	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	19107020	68805174	112110086	13	11329											
PKHD1	5314	broad.mit.edu	37	6	51491843	51491843	+	Missense_Mutation	SNP	G	G	A	rs151198392		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:51491843G>A	uc003pah.1	-	65	12013	c.11737C>T	c.(11737-11739)Cgc>Tgc	p.R3913C		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3913			R -> H (in dbSNP:rs2661487).		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.R3913R(1)		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)					GATTCTCGGCGTTTGGATGAG	0.433													A	51491843	G	A	51491843	3	1	163	1	0	0	0	0	1	0	0	0	11971	1145	40	1	495	1	PKHD1	6	51491843	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08		51491843	119623224	14	11330											
COL12A1	1303	broad.mit.edu	37	6	75898089	75898089	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:75898089C>A	uc021zbv.1	-	6	1021	c.986G>T	c.(985-987)aGt>aTt	p.S329I	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.S329I|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	329					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCTTCTCCACTAACCAATTC	0.373													A	75898089	C	A	75898089	3	1	163	1	0	0	0	0	1	0	0	0	3669	565	20	5	8441	5	COL12A1	6	75898089	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	24406246	75898089	95216978	15	11331											
DOPEY1	23033	broad.mit.edu	37	6	83841949	83841949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:83841949C>T	uc011dyy.2	+	17	2904	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	DOPEY1_uc003pjs.1_Nonsense_Mutation_p.Q891*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.Q882*	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	891					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCAGCATCACCAGAAGAGTGT	0.373													T	83841949	C	T	83841949	4	4	163	1	0	0	0	0	0	1	0	0	4707	595	21	3	2733	3	DOPEY1	6	83841949	Nonsense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	7943860	83841949	87273118	16	11332											
PREP	5550	broad.mit.edu	37	6	105771589	105771589	+	Missense_Mutation	SNP	C	C	T	rs141737006		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:105771589C>T	uc003prc.3	-	9	1501	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	423					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGTCACCTCTCGGAAAACTCT	0.408													T	105771589	C	T	105771589	3	4	163	1	0	0	0	0	1	0	0	0	12474	884	31	2	888	2	PREP	6	105771589	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	21929640	105771589	65343478	17	11333											
DNAH11	8701	broad.mit.edu	37	7	21939697	21939697	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:21939697C>T	uc003svc.3	+	81	13314	c.13283C>T	c.(13282-13284)cCg>cTg	p.P4428L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4428					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATGGACACCCGCCAAGGGAA	0.488									Kartagener syndrome				T	21939697	C	T	21939697	3	4	163	1	0	0	0	0	1	0	0	0	4599	652	23	2	13606	2	DNAH11	7	21939697	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		21939697	137198966	18	11334											
PPP1R9A	55607	broad.mit.edu	37	7	94879506	94879506	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:94879506T>C	uc003unp.3	+	8	2551	c.2269T>C	c.(2269-2271)Tat>Cat	p.Y757H	PPP1R9A_uc010lfj.3_Missense_Mutation_p.Y779H|PPP1R9A_uc011kif.2_Missense_Mutation_p.Y757H|PPP1R9A_uc003unq.3_Missense_Mutation_p.Y757H|PPP1R9A_uc011kig.2_Missense_Mutation_p.Y757H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	757	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAAAGCCAGTATCAGGCCTT	0.373										HNSCC(28;0.073)			C	94879506	T	C	94879506	3	2	163	1	0	0	0	0	1	0	0	0	12378	1638	57	4	2369	4	PPP1R9A	7	94879506	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	72939809	94879506	64259157	19	11335											
IRF5	3663	broad.mit.edu	37	7	128585975	128585975	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:128585975G>A	uc003voh.3	+	2	393	c.272G>A	c.(271-273)cGc>cAc	p.R91H	IRF5_uc010llr.1_Missense_Mutation_p.R91H|IRF5_uc011kot.1_Missense_Mutation_p.R91H|IRF5_uc011kou.1_Missense_Mutation_p.R91H|IRF5_uc010lls.1_Missense_Mutation_p.R91H|IRF5_uc003vog.3_Missense_Mutation_p.R91H|IRF5_uc010llt.3_Missense_Mutation_p.R91H|IRF5_uc003voi.3_Missense_Mutation_p.R91H|IRF5_uc010llu.1_Missense_Mutation_p.R91H|IRF5_uc003vok.2_Missense_Mutation_p.R91H|IRF5_uc003voj.4_Missense_Mutation_p.R91H|IRF5_uc010llv.1_Missense_Mutation_p.R91H|IRF5_uc010llw.1_Missense_Mutation_p.R91H	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	91					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCCAACCTGCGCTGTGCCCTT	0.612													A	128585975	G	A	128585975	3	1	163	1	0	0	0	0	1	0	0	0	7833	1087	38	1	278	1	IRF5	7	128585975	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	33706469	128585975	30552688	20	11336											
OR2A12	346525	broad.mit.edu	37	7	143792799	143792799	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:143792799C>T	uc011kty.2	+	0	599	c.599C>T	c.(598-600)gCg>gTg	p.A200V		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A200V(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTCCTATTTGCGGGTTCTGCG	0.532													T	143792799	C	T	143792799	3	4	163	1	0	0	0	0	1	0	0	0	10975	768	27	1	601	1	OR2A12	7	143792799	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	15206824	143792799	15345864	21	11337											
CSMD1	64478	broad.mit.edu	37	8	3057257	3057257	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:3057257C>T	uc022aqr.1	-	32	5563	c.5173G>A	c.(5173-5175)Ggc>Agc	p.G1725S	CSMD1_uc011kwj.2_Missense_Mutation_p.G1118S|CSMD1_uc003wqe.3_Missense_Mutation_p.G882S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1726	CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGAAGCCGCGGGCAGAG	0.512													T	3057257	C	T	3057257	3	4	163	1	0	0	0	0	1	0	0	0	3944	652	23	2	5673	2	CSMD1	8	3057257	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		3057257	143306765	22	11338											
MSR1	4481	broad.mit.edu	37	8	15978016	15978016	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:15978016C>T	uc010lsu.3	-	8	1251	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	MSR1_uc003wwz.3_Missense_Mutation_p.R378H|MSR1_uc003wxa.3_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	378	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CACTTCCCAGCGATCGTCACA	0.562													T	15978016	C	T	15978016	3	4	163	1	0	0	0	0	1	0	0	0	9886	768	27	1	230	1	MSR1	8	15978016	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	12920759	15978016	130386006	23	11339											
CDCA2	157313	broad.mit.edu	37	8	25341581	25341581	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:25341581C>A	uc003xep.1	+	9	1697	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S407Y|CDCA2_uc003xeq.1_Missense_Mutation_p.S392Y|CDCA2_uc003xer.1_Missense_Mutation_p.S70Y	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	407					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTGATGAATCTTTGCCAGCA	0.428													A	25341581	C	A	25341581	3	1	163	1	0	0	0	0	1	0	0	0	3086	913	32	5	1254	5	CDCA2	8	25341581	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	9363565	25341581	121022441	24	11340											
PKHD1L1	93035	broad.mit.edu	37	8	110424605	110424605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:110424605C>T	uc003yne.3	+	19	2301	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	733					immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			ACCAAACAGACGACCATATGG	0.368										HNSCC(38;0.096)			T	110424605	C	T	110424605	4	4	163	1	0	0	0	0	0	1	0	0	11972	528	19	1	2275	1	PKHD1L1	8	110424605	Nonsense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	85083024	110424605	35939417	25	11341											
DGAT1	8694	broad.mit.edu	37	8	145541816	145541818	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:145541816_145541818delCTT	uc003zbv.3	-	7	959_961	c.691_693delAAG	c.(691-693)aagdel	p.K231del		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	231					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CACTGCTGGCCTTCTTCCCTGCA	0.709													-	145541818	CTT	-	145541816	7	5	163	1	0	1	0	1	0	0	0	0	4457	680	24	0	813	0	DGAT1	8	145541816	In_Frame_Del	DEL	CTT	TCGA-19-5950-01A-11D-1696-08	35117211	145541816	822206	26	11342											
ZNF250	58500	broad.mit.edu	37	8	146108024	146108024	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:146108024T>C	uc003zeq.4	-	5	676	c.559A>G	c.(559-561)Act>Gct	p.T187A	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.T182A|ZNF250_uc010mgg.3_Missense_Mutation_p.T182A	NM_021061	NP_066405	P15622	ZN250_HUMAN	Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGTGCGGAGTGAGTGGCATG	0.498													C	146108024	T	C	146108024	3	2	163	1	0	0	0	0	1	0	0	0	17792	1696	59	4	1127	4	ZNF250	8	146108024	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	566208	146108024	255998	27	11343											
FBP2	8789	broad.mit.edu	37	9	97329591	97329591	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr9:97329591C>T	uc004auv.3	-	4	733	c.666G>A	c.(664-666)gcG>gcA	p.A222A	BC080653_uc004aus.1_Intron|BC080653_uc004aut.1_Intron	NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	222					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CAGTGGTGGCCGCATCAAAAT	0.463													T	97329591	C	T	97329591	2	4	163	1	0	0	0	0	0	0	0	1	5706	639	23	2		2	FBP2	9	97329591	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		97329591	43883840	28	11344											
ITIH2	3698	broad.mit.edu	37	10	7763617	7763617	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:7763617C>T	uc001ijs.3	+	7	906	c.744C>T	c.(742-744)caC>caT	p.H248H		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	248					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.H248L(1)|p.A247A(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTAGGCGCACGTCTCCTTCA	0.587													T	7763617	C	T	7763617	2	4	163	1	0	0	0	0	0	0	0	1	7904	535	19	1		1	ITIH2	10	7763617	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		7763617	127771130	29	11345											
EXOC6	54536	broad.mit.edu	37	10	94653171	94653171	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:94653171G>A	uc010qnr.2	+	2	358	c.215G>A	c.(214-216)cGt>cAt	p.R72H	EXOC6_uc001kie.3_Missense_Mutation_p.R51H|EXOC6_uc001kif.4_Missense_Mutation_p.R56H|EXOC6_uc001kig.3_Missense_Mutation_p.R56H|EXOC6_uc009xub.3_Missense_Mutation_p.R56H|EXOC6_uc009xuc.3_Missense_Mutation_p.R56H	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	56					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GCTTGTATCCGTAATCATGAC	0.333													A	94653171	G	A	94653171	3	1	163	1	0	0	0	0	1	0	0	0	5308	1145	40	1	263	1	EXOC6	10	94653171	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	86889554	94653171	40881576	30	11346											
SORBS1	10580	broad.mit.edu	37	10	97194458	97194458	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:97194458T>A	uc001kkp.3	-	2	138	c.93A>T	c.(91-93)ttA>ttT	p.L31F	SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Missense_Mutation_p.L19F|SORBS1_uc001kko.3_Missense_Mutation_p.L31F|SORBS1_uc001kkq.3_Missense_Mutation_p.L31F|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Missense_Mutation_p.L31F|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.L31F|SORBS1_uc010qoe.2_Intron|SORBS1_uc010qof.1_Intron|SORBS1_uc001kkx.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	31					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGCGTGCGCGTAAAGGGTCGG	0.483													A	97194458	T	A	97194458	3	1	163	1	0	0	0	0	1	0	0	0	14927	1635	57	5	4098	5	SORBS1	10	97194458	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	2541287	97194458	38340289	31	11347											
NLRP14	338323	broad.mit.edu	37	11	7065151	7065151	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:7065151A>G	uc001mfb.1	+	3	2217	c.1894A>G	c.(1894-1896)Agg>Ggg	p.R632G		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	632					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCGGACCATCAGGCTGTCTGT	0.423													G	7065151	A	G	7065151	3	3	163	1	0	0	0	0	1	0	0	0	10476	179	7	4	1904	4	NLRP14	11	7065151	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08		7065151	127941365	32	11348											
OR5AN1	390195	broad.mit.edu	37	11	59132528	59132528	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:59132528G>A	uc010rks.2	+	0	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V198V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TACAGGTCATGACTGCTATAT	0.408													A	59132528	G	A	59132528	3	1	163	1	0	0	0	0	1	0	0	0	11143	1290	45	3	599	3	OR5AN1	11	59132528	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	52067377	59132528	75873988	33	11349											
ATM	472	broad.mit.edu	37	11	108172455	108172455	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:108172455A>G	uc001pkb.1	+	34	5643	c.5258A>G	c.(5257-5259)tAt>tGt	p.Y1753C	ATM_uc009yxr.1_Missense_Mutation_p.Y1753C|ATM_uc001pke.2_Missense_Mutation_p.Y405C|ATM_uc001pkg.1_Missense_Mutation_p.Y110C|ATM_uc009yxt.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1753					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			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)		TGGGAGATTTATAAGATGACA	0.343			"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)			G	108172455	A	G	108172455	3	3	163	1	0	0	0	0	1	0	0	0	1109	449	16	4	5392	4	ATM	11	108172455	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	49039927	108172455	26834061	34	11350											
BUD13	84811	broad.mit.edu	37	11	116633616	116633616	+	Missense_Mutation	SNP	C	C	T	rs139478949		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:116633616C>T	uc001ppn.3	-	3	723	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Missense_Mutation_p.R230Q	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	230	Arg-rich.							p.R230Q(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGACGGGCTCGCCTAGGAGG	0.532													T	116633616	C	T	116633616	3	4	163	1	0	0	0	0	1	0	0	0	1573	884	31	2	1198	2	BUD13	11	116633616	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	8461161	116633616	18372900	35	11351											
TIMELESS	8914	broad.mit.edu	37	12	56822356	56822356	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:56822356C>T	uc001slf.2	-	11	1553	c.1385G>A	c.(1384-1386)aGg>aAg	p.R462K	TIMELESS_uc001slg.2_Missense_Mutation_p.R461K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	462					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCTGCTCTCCCTCACAGCCTC	0.557													T	56822356	C	T	56822356	3	4	163	1	0	0	0	0	1	0	0	0	15901	681	24	3	2313	3	TIMELESS	12	56822356	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		56822356	77029539	36	11352											
KCNC2	3747	broad.mit.edu	37	12	75601221	75601221	+	Silent	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:75601221G>A	uc001sxg.1	-	1	1087	c.543C>T	c.(541-543)gaC>gaT	p.D181D	KCNC2_uc009zry.3_Silent_p.D181D|KCNC2_uc001sxe.3_Silent_p.D181D|KCNC2_uc001sxf.3_Silent_p.D181D|KCNC2_uc010stw.1_Silent_p.D181D	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	181					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GGTCCTCGTCGTCGCCGGGGT	0.726													A	75601221	G	A	75601221	2	1	163	1	0	0	0	0	0	0	0	1	8015	1136	40	1		1	KCNC2	12	75601221	Silent	SNP	G	TCGA-19-5950-01A-11D-1696-08	18778865	75601221	58250674	37	11353											
NTN4	59277	broad.mit.edu	37	12	96076575	96076575	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:96076575T>G	uc001tei.3	-	6	1867	c.1418A>C	c.(1417-1419)cAt>cCt	p.H473P	NTN4_uc009ztf.3_Missense_Mutation_p.H473P|NTN4_uc009ztg.3_Missense_Mutation_p.H436P	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	473					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGGAACTTCATGATACCAGTC	0.423													G	96076575	T	G	96076575	3	3	163	1	0	0	0	0	1	0	0	0	10702	1464	51	5	484	5	NTN4	12	96076575	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	20475354	96076575	37775320	38	11354											
FOXA1	3169	broad.mit.edu	37	14	38061515	38061515	+	Silent	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:38061515G>A	uc001wuf.3	-	1	786	c.474C>T	c.(472-474)gaC>gaT	p.D158D	FOXA1_uc010tpz.2_Silent_p.D125D	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	158					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	p.D158N(1)		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)		ACGTCTTGGCGTcgccgccgc	0.697													A	38061515	G	A	38061515	2	1	163	1	0	0	0	0	0	0	0	1	5989	1136	40	1		1	FOXA1	14	38061515	Silent	SNP	G	TCGA-19-5950-01A-11D-1696-08		38061515	69288025	39	11355											
TMEM229B	161145	broad.mit.edu	37	14	67940157	67940157	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:67940157C>T	uc001xjk.3	-	2	894	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.G162S	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	162						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGACATGGCCGTTGGCCAGG	0.632													T	67940157	C	T	67940157	3	4	163	1	0	0	0	0	1	0	0	0	16145	652	23	2	23	2	TMEM229B	14	67940157	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	29878642	67940157	39409383	40	11356											
RPS6KL1	83694	broad.mit.edu	37	14	75388196	75388196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:75388196C>A	uc010tux.2	-	1	577	c.49G>T	c.(49-51)Gag>Tag	p.E17*	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc021rwp.1_Nonsense_Mutation_p.E17*|RPS6KL1_uc001xqy.1_Nonsense_Mutation_p.E17*	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	17						ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GAGCAAGGCTCAGGCTCCAGG	0.607													A	75388196	C	A	75388196	4	1	163	1	0	0	0	0	0	1	0	0	13659	835	29	5	1616	5	RPS6KL1	14	75388196	Nonsense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	7448039	75388196	31961344	41	11357											
ACAN	176	broad.mit.edu	37	15	89386832	89386832	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr15:89386832C>T	uc010upo.1	+	5	1378	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	ACAN_uc002bmx.3_Missense_Mutation_p.T335M|ACAN_uc010upp.1_Missense_Mutation_p.T335M|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	335					cell adhesion		hyaluronic acid binding|sugar binding			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)			GCCAACCAGACGGGCTACCCC	0.657													T	89386832	C	T	89386832	3	4	163	1	0	0	0	0	1	0	0	0	117	536	19	1	1022	1	ACAN	15	89386832	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		89386832	13144560	42	11358											
LRRK1	79705	broad.mit.edu	37	15	101567475	101567475	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr15:101567475C>T	uc002bwr.3	+	17	2734	c.2415C>T	c.(2413-2415)tcC>tcT	p.S805S	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	805	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGAGATTTCCTGCAAGAGCC	0.562													T	101567475	C	T	101567475	2	4	163	1	0	0	0	0	0	0	0	1	9032	668	24	3		3	LRRK1	15	101567475	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08	12180643	101567475	963917	43	11359											
WFIKKN2	124857	broad.mit.edu	37	17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:48917794C>T	uc002isv.4	+	1	1839	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	WFIKKN2_uc010dbu.3_Missense_Mutation_p.P289L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	382						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652													T	48917794	C	T	48917794	3	4	163	1	0	0	0	0	1	0	0	0	17356	652	23	2	1151	2	WFIKKN2	17	48917794	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		48917794	32277416	44	11360											
ABCA10	10349	broad.mit.edu	37	17	67188731	67188731	+	Missense_Mutation	SNP	C	C	T	rs138792982	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:67188731C>T	uc010dfa.1	-	16	2723	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.R216Q	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	615	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			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)					ACCCCACTTTCGCTTCAGAAA	0.328													T	67188731	C	T	67188731	3	4	163	1	0	0	0	0	1	0	0	0	29	884	31	2	2883	2	ABCA10	17	67188731	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	18270937	67188731	14006479	45	11361											
DNAH17	8632	broad.mit.edu	37	17	76557880	76557880	+	Silent	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:76557880G>A	uc010dhp.2	-	11	1877	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	DNAH17_uc002jvv.2_Silent_p.P286P	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCGGCCACGGGAGGCATGT	0.577													A	76557880	G	A	76557880	2	1	163	1	0	0	0	0	0	0	0	1	4601	1103	39	2		2	DNAH17	17	76557880	Silent	SNP	G	TCGA-19-5950-01A-11D-1696-08	9369149	76557880	4637330	46	11362											
ANKRD12	23253	broad.mit.edu	37	18	9258903	9258903	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr18:9258903C>T	uc002knv.3	+	8	5902	c.5638C>T	c.(5638-5640)Ccc>Tcc	p.P1880S	ANKRD12_uc002knw.3_Missense_Mutation_p.P1857S|ANKRD12_uc002knx.3_Missense_Mutation_p.P1857S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1587S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1880						nucleus		p.P1880S(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGATGGAAACCCCTTAAGCAA	0.383													T	9258903	C	T	9258903	3	4	163	1	0	0	0	0	1	0	0	0	640	623	22	3	5668	3	ANKRD12	18	9258903	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		9258903	68818345	47	11363											
ATCAY	85300	broad.mit.edu	37	19	3907801	3907801	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:3907801C>T	uc010xhz.2	+	5	929	c.446C>T	c.(445-447)aCg>aTg	p.T149M	ATCAY_uc002lyy.4_Missense_Mutation_p.T143M|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	143					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GACGGCACGACGGAGGACGGC	0.637													T	3907801	C	T	3907801	3	4	163	1	0	0	0	0	1	0	0	0	1077	536	19	1	442	1	ATCAY	19	3907801	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		3907801	55221182	48	11364											
HOMER3	9454	broad.mit.edu	37	19	19043763	19043784	+	Frame_Shift_Del	DEL	CGCTCTGTGGGGCCGGGGGCAT	CGCTCTGTGGGGCCGGGGGCAT	-	rs147820524	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	uc002nku.2	-	4	1135_1156	c.482_503delATGCCCCCGGCCCCACAGAGCG	c.(481-504)gatgcccccggccccacagagcgcfs	p.D161fs	HOMER3_uc002nkp.1_Non-coding_Transcript|HOMER3_uc002nko.1_Non-coding_Transcript|HOMER3_uc010eby.2_Frame_Shift_Del_p.D125fs|HOMER3_uc010ebz.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkw.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkv.2_Frame_Shift_Del_p.D161fs	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.	161					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TAGCCGCTCGCGCTCTGTGGGGCCGGGGGCATCAGCGCTCTG	0.671													-	19043784	CGCTCTGTGGGGCCGGGGGCAT	-	19043763	7	5	163	1	0	1	0	1	0	0	0	0	7280	768	27	0	602	0	HOMER3	19	19043763	Frame_Shift_Del	DEL	CGCTCTGTGGGGCCGGGGGCAT	TCGA-19-5950-01A-11D-1696-08	15135962	19043763	40085220	49	11365											
LSM14A	26065	broad.mit.edu	37	19	34710329	34710329	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:34710329G>A	uc002nvb.4	+	6	1011	c.815G>A	c.(814-816)cGt>cAt	p.R272H	LSM14A_uc002nva.4_Missense_Mutation_p.R272H|LSM14A_uc010xru.2_Missense_Mutation_p.R231H|LSM14A_uc002nvc.4_Missense_Mutation_p.R78H	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	272					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.R272C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGGAGAGGGCGTGGGGGTCAT	0.443													A	34710329	G	A	34710329	3	1	163	1	0	0	0	0	1	0	0	0	9054	1145	40	1	841	1	LSM14A	19	34710329	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	15666566	34710329	24418654	50	11366											
CHGB	1114	broad.mit.edu	37	20	5903378	5903378	+	Silent	SNP	C	C	T	rs149359798	by1000genomes	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:5903378C>T	uc002wmg.3	+	3	894	c.588C>T	c.(586-588)aaC>aaT	p.N196N	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	196						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGACACAAAACGCTTTTCTCA	0.483													T	5903378	C	T	5903378	2	4	163	1	0	0	0	0	0	0	0	1	3339	535	19	1		1	CHGB	20	5903378	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		5903378	57122142	51	11367											
CD93	22918	broad.mit.edu	37	20	23066544	23066544	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:23066544C>T	uc002wsv.3	-	0	434	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	96	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGCTGGAGCCCAATCCAGAAC	0.642													T	23066544	C	T	23066544	3	4	163	1	0	0	0	0	1	0	0	0	3047	594	21	3	1680	3	CD93	20	23066544	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	17163166	23066544	39958976	52	11368											
REM1	28954	broad.mit.edu	37	20	30070096	30070096	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:30070096A>T	uc002wwa.3	+	3	714	c.430A>T	c.(430-432)Agc>Tgc	p.S144C		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	144					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGGATAAAAGCTGGAGCCA	0.587													T	30070096	A	T	30070096	3	4	163	1	0	0	0	0	1	0	0	0	13222	72	3	5	440	5	REM1	20	30070096	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	7003552	30070096	32955424	53	11369											
RBL1	5933	broad.mit.edu	37	20	35690525	35690525	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:35690525C>A	uc002xgi.3	-	7	1124	c.1045G>T	c.(1045-1047)Gct>Tct	p.A349S	RBL1_uc002xgj.1_Missense_Mutation_p.A349S|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	349					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCCACATTAGCCTGTGCTGTC	0.423													A	35690525	C	A	35690525	3	1	163	1	0	0	0	0	1	0	0	0	13109	739	26	5	2230	5	RBL1	20	35690525	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	5620429	35690525	27334995	54	11370											
KRTAP11-1	337880	broad.mit.edu	37	21	32253366	32253366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr21:32253366G>A	uc002yov.3	-	0	509	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	160						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CAGGTTCTTCGGCAGCTGGAC	0.562													A	32253366	G	A	32253366	4	1	163	1	0	0	0	0	0	1	0	0	8517	1124	39	2	17	2	KRTAP11-1	21	32253366	Nonsense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08		32253366	15876529	55	11371											
ARSE	415	broad.mit.edu	37	X	2873479	2873479	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:2873479C>T	uc011mhh.2	-	4	821	c.360G>A	c.(358-360)acG>acA	p.T120T	ARSE_uc011mhi.2_Silent_p.T41T|ARSE_uc004crc.4_Silent_p.T95T			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	95					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				GGTATCTGCCCGTGAGGAAGG	0.527													T	2873479	C	T	2873479	2	4	163	1	0	0	0	0	0	0	0	1	990	639	23	2		2	ARSE	23	2873479	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		2873479	152397081	56	11372											
TLR7	51284	broad.mit.edu	37	X	12903821	12903821	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:12903821C>T	uc004cvc.3	+	2	333	c.194C>T	c.(193-195)aCg>aTg	p.T65M		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	65					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			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)	GGTATTCCCACGAACACCACG	0.488													T	12903821	C	T	12903821	3	4	163	1	0	0	0	0	1	0	0	0	15953	536	19	1	200	1	TLR7	23	12903821	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	10030342	12903821	142366739	57	11373											
DMD	1756	broad.mit.edu	37	X	32407637	32407637	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:32407637G>A	uc004dda.1	-	31	4743	c.4499C>T	c.(4498-4500)tCa>tTa	p.S1500L	DMD_uc004dcw.2_Missense_Mutation_p.S156L|DMD_uc004dcx.2_Missense_Mutation_p.S159L|DMD_uc004dcz.2_Missense_Mutation_p.S1377L|DMD_uc004dcy.1_Missense_Mutation_p.S1496L|DMD_uc004ddb.1_Missense_Mutation_p.S1492L|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1500	Interaction with SYNM (By similarity).				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			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)				ATTTAGCTGTGACTGTACTAC	0.393													A	32407637	G	A	32407637	3	1	163	1	0	0	0	0	1	0	0	0	4580	1294	45	3	6898	3	DMD	23	32407637	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	19503816	32407637	122862923	58	11374											
P2RY10	27334	broad.mit.edu	37	X	78216970	78216970	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:78216970G>A	uc022bzl.1	+	0	953	c.953G>A	c.(952-954)cGc>cAc	p.R318H	P2RY10_uc004ede.3_Missense_Mutation_p.R318H|P2RY10_uc004edf.3_Missense_Mutation_p.R318H	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	318						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R318C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAACTATCCCGCCATGGCAGT	0.438													A	78216970	G	A	78216970	3	1	163	1	0	0	0	0	1	0	0	0	11347	1087	38	1	955	1	P2RY10	23	78216970	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	45809333	78216970	77053590	59	11375											
RPA4	29935	broad.mit.edu	37	X	96139918	96139918	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:96139918C>T	uc004efv.4	+	0	1012	c.609C>T	c.(607-609)gaC>gaT	p.D203D	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	203					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TCATCCAGGACGAAGTGCTGC	0.522								Other identified genes with known or suspected DNA repair function					T	96139918	C	T	96139918	2	4	163	1	0	0	0	0	0	0	0	1	13539	535	19	1		1	RPA4	23	96139918	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08	17922948	96139918	59130642	60	11376											
RAB9B	51209	broad.mit.edu	37	X	103080537	103080537	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:103080537T>C	uc004ell.2	-	2	517	c.178A>G	c.(178-180)Atc>Gtc	p.I60V	RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Missense_Mutation_p.I60V	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.	60					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GTGTCCCAGATCTGGAGGGTT	0.507													C	103080537	T	C	103080537	3	2	163	1	0	0	0	0	1	0	0	0	12959	1435	50	4	431	4	RAB9B	23	103080537	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	6940619	103080537	52190023	61	11377											
KLHL13	90293	broad.mit.edu	37	X	117043525	117043525	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:117043525A>T	uc011mtp.2	-	5	1247	c.1114T>A	c.(1114-1116)Tgg>Agg	p.W372R	KLHL13_uc004eqk.3_Missense_Mutation_p.W318R|KLHL13_uc004eql.3_Missense_Mutation_p.W369R|KLHL13_uc011mtn.2_Missense_Mutation_p.W209R|KLHL13_uc011mto.2_Missense_Mutation_p.W363R|KLHL13_uc011mtq.2_Missense_Mutation_p.W353R|KLHL13_uc004eqm.3_Missense_Mutation_p.W327R|KLHL13_uc022cde.1_Missense_Mutation_p.W353R	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	369					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.S371L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AACGATTTCCACTCATGGGCC	0.493													T	117043525	A	T	117043525	3	4	163	1	0	0	0	0	1	0	0	0	8369	159	6	5	874	5	KLHL13	23	117043525	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	13962988	117043525	38227035	62	11378											
MAGEA8	4107	broad.mit.edu	37	X	149013837	149013837	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:149013837C>T	uc022cgq.1	+	0	791	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MAGEA8_uc022cgo.1_Missense_Mutation_p.A264V|MAGEA8_uc004fdw.2_Missense_Mutation_p.A264V|MAGEA8_uc022cgp.1_Missense_Mutation_p.A264V	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	264	MAGE.							p.A264A(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TACCGCCAGGCGCCCGGCAGT	0.577													T	149013837	C	T	149013837	3	4	163	1	0	0	0	0	1	0	0	0	9171	768	27	1	793	1	MAGEA8	23	149013837	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	31970312	149013837	6256723	63	11379											
PNCK	139728	broad.mit.edu	37	X	152937465	152937465	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:152937465C>T	uc011myu.2	-	4	719	c.533G>A	c.(532-534)gGt>gAt	p.G178D	PNCK_uc011myt.2_Missense_Mutation_p.G112D|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Missense_Mutation_p.G122D|PNCK_uc011myw.2_Missense_Mutation_p.G122D	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	95	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGCCACCCGTCACCCT	0.662													T	152937465	C	T	152937465	3	4	163	1	0	0	0	0	1	0	0	0	12145	507	18	3	775	3	PNCK	23	152937465	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	3923628	152937465	2333095	64	11380											
RAB39B	116442	broad.mit.edu	37	X	154490194	154490194	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:154490194T>C	uc004fne.3	-	1	815	c.536A>G	c.(535-537)gAg>gGg	p.E179G		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	179					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTGTAATCTCCCCCCTTTT	0.463													C	154490194	T	C	154490194	3	2	163	1	0	0	0	0	1	0	0	0	12930	1551	54	4	109	4	RAB39B	23	154490194	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	1552729	154490194	780366	65	11381											
KIF17	57576	broad.mit.edu	37	1	21009246	21009246	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:21009246G>A	uc001bdr.4	-	10	2481	c.2363C>T	c.(2362-2364)tCg>tTg	p.S788L	KIF17_uc001bdp.4_Missense_Mutation_p.S66L|KIF17_uc009vpx.3_Missense_Mutation_p.S158L|KIF17_uc001bds.4_Missense_Mutation_p.S788L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	788					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTCCTCATCCGAGTTCTGCAG	0.607													A	21009246	G	A	21009246	3	1	164	1	0	0	0	0	1	0	0	0	8279	1059	37	2	746	2	KIF17	1	21009246	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		21009246	228241375	1	11382											
DNALI1	7802	broad.mit.edu	37	1	38025070	38025070	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:38025070C>T	uc001cbj.3	+	2	446	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DNALI1_uc010oie.2_Intron	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	124					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCCTGTCCGCAGGGAACT	0.587													T	38025070	C	T	38025070	3	4	164	1	0	0	0	0	1	0	0	0	4659	652	23	2	446	2	DNALI1	1	38025070	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	17015824	38025070	211225551	2	11383											
TIE1	7075	broad.mit.edu	37	1	43784978	43784978	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:43784978G>T	uc001ciu.3	+	17	3172	c.2995G>T	c.(2995-2997)Ggc>Tgc	p.G999C	TIE1_uc010oke.2_Missense_Mutation_p.G954C|TIE1_uc009vwq.3_Missense_Mutation_p.G955C|TIE1_uc010okg.2_Missense_Mutation_p.G644C|TIE1_uc021omo.1_5'Flank	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	999	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCAGACTTCGGCCTTTCTCG	0.577													T	43784978	G	T	43784978	3	4	164	1	0	0	0	0	1	0	0	0	15890	1116	39	5	3065	5	TIE1	1	43784978	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	5759908	43784978	205465643	3	11384											
LCE3A	353142	broad.mit.edu	37	1	152595450	152595450	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:152595450C>T	uc010pdt.2	-	0	130	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	Homo sapiens late cornified envelope 3A (LCE3A), mRNA.	44					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGCGCTCGGAGCTGGGC	0.657													T	152595450	C	T	152595450	3	4	164	1	0	0	0	0	1	0	0	0	8669	893	31	2	142	2	LCE3A	1	152595450	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	108810472	152595450	96655171	4	11385											
HMCN1	83872	broad.mit.edu	37	1	186045741	186045741	+	Silent	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:186045741A>G	uc001grq.1	+	53	8701	c.8472A>G	c.(8470-8472)gtA>gtG	p.V2824V	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2824	Ig-like C2-type 26.				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						GTGATAAAGTATTGATTTTGC	0.428													G	186045741	A	G	186045741	2	3	164	1	0	0	0	0	0	0	0	1	7220	436	16	4		4	HMCN1	1	186045741	Silent	SNP	A	TCGA-19-5951-01A-11D-1696-08	33450291	186045741	63204880	5	11386											
LEFTY2	7044	broad.mit.edu	37	1	226127598	226127598	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:226127598G>A	uc001hpt.2	-	1	598	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	LEFTY2_uc010pvk.2_Intron|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	119					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGGAAGAGCCGCAGCACGGCC	0.741													A	226127598	G	A	226127598	3	1	164	1	0	0	0	0	1	0	0	0	8716	1086	38	1	757	1	LEFTY2	1	226127598	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	40081857	226127598	23123023	6	11387											
OR2T1	26696	broad.mit.edu	37	1	248569915	248569915	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:248569915T>C	uc010pzm.2	+	0	620	c.620T>C	c.(619-621)tTc>tCc	p.F207S		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TTGGATGGCTTCCTCCTAACC	0.537													C	248569915	T	C	248569915	3	2	164	1	0	0	0	0	1	0	0	0	11016	1783	62	4	622	4	OR2T1	1	248569915	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	22442317	248569915	680706	7	11388											
CCDC148	130940	broad.mit.edu	37	2	159215014	159215015	+	Frame_Shift_Ins	INS	-	-	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:159215014_159215015insT	uc002tzq.3	-	1	407_408	c.93_94insA	c.(91-96)caattgfs	p.Q31fs	CCDC148_uc002tzr.3_5'UTR|CCDC148_uc010foh.3_5'UTR|CCDC148_uc010fok.2_Intron|CCDC148_uc010foi.2_Intron|CCDC148_uc010foj.2_5'UTR|CCDC148_uc002tzs.2_Frame_Shift_Ins_p.Q31fs	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	31										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AATGCACGCAATTGTTGATAGT	0.322													T	159215015	-	T	159215014	7	5	164	1	0	1	1	0	0	0	0	0	2782	98	4	0	1785	0	CCDC148	2	159215014	Frame_Shift_Ins	INS	-	TCGA-19-5951-01A-11D-1696-08		159215014	83984359	8	11389											
ITGB6	3694	broad.mit.edu	37	2	160993973	160993973	+	Silent	SNP	G	G	A	rs61737765	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:160993973G>A	uc002ubh.2	-	9	1647	c.1632C>T	c.(1630-1632)tgC>tgT	p.C544C	ITGB6_uc010fou.2_Silent_p.C544C|ITGB6_uc010zcq.1_Silent_p.C502C|ITGB6_uc010fov.1_Silent_p.C544C	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	544	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGTGTCTCACGCAGGAGAAAT	0.527													A	160993973	G	A	160993973	2	1	164	1	0	0	0	0	0	0	0	1	7899	1079	38	1		1	ITGB6	2	160993973	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	1778959	160993973	82205400	9	11390											
COL6A3	1293	broad.mit.edu	37	2	238275681	238275681	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:238275681C>T	uc002vwl.2	-	10	5434	c.5149G>A	c.(5149-5151)Gcc>Acc	p.A1717T	COL6A3_uc002vwo.2_Missense_Mutation_p.A1511T|COL6A3_uc010znj.1_Missense_Mutation_p.A1110T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1717	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		TTAGTGTTGGCGTGTCTTCCC	0.542													T	238275681	C	T	238275681	3	4	164	1	0	0	0	0	1	0	0	0	3701	768	27	1	4520	1	COL6A3	2	238275681	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	77281708	238275681	4923692	10	11391											
BSN	8927	broad.mit.edu	37	3	49689184	49689184	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:49689184G>A	uc003cxe.4	+	4	2309	c.2195G>A	c.(2194-2196)cGg>cAg	p.R732Q		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	732					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCAGCATGCGGCCTTTGCTG	0.667													A	49689184	G	A	49689184	3	1	164	1	0	0	0	0	1	0	0	0	1530	1116	39	2	2213	2	BSN	3	49689184	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		49689184	148333246	11	11392											
SEMA3G	56920	broad.mit.edu	37	3	52475289	52475289	+	Silent	SNP	G	G	A	rs138050174		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:52475289G>A	uc003dea.1	-	6	804	c.804C>T	c.(802-804)cgC>cgT	p.R268R		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	268	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity	p.R268C(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCACGCAGACGCGGCCCACGC	0.612													A	52475289	G	A	52475289	2	1	164	1	0	0	0	0	0	0	0	1	14030	1074	38	1		1	SEMA3G	3	52475289	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	2786105	52475289	145547141	12	11393											
PLXNA1	5361	broad.mit.edu	37	3	126733439	126733439	+	Missense_Mutation	SNP	G	G	A	rs138171477		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:126733439G>A	uc003ejg.3	+	11	2723	c.2723G>A	c.(2722-2724)aGc>aAc	p.S908N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	908	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGCTGTGCAGCCCTGTGGAG	0.701													A	126733439	G	A	126733439	3	1	164	1	0	0	0	0	1	0	0	0	12119	971	34	3	2769	3	PLXNA1	3	126733439	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	74258150	126733439	71288991	13	11394											
D4S234E	27065	broad.mit.edu	37	4	4411320	4411320	+	Silent	SNP	C	C	T	rs143847165		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:4411320C>T	uc011bvz.2	+	6	1548	c.267C>T	c.(265-267)ttC>ttT	p.F89F	D4S234E_uc011bwa.1_Silent_p.F50F|D4S234E_uc003ghz.3_Silent_p.F89F|D4S234E_uc003gia.3_Silent_p.F89F	NM_014392	NP_055207	P42857	NSG1_HUMAN	Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA.	89					dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		TGGTCCTCTTCGCCCTGGCCT	0.617													T	4411320	C	T	4411320	2	4	164	1	0	0	0	0	0	0	0	1	4214	883	31	2		2	D4S234E	4	4411320	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		4411320	186742956	14	11395											
UGT2A3	79799	broad.mit.edu	37	4	69795715	69795715	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:69795715C>T	uc003hef.2	-	5	1431	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	467						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCTTTGTGGCGCATGACAAA	0.488													T	69795715	C	T	69795715	3	4	164	1	0	0	0	0	1	0	0	0	16952	768	27	1	187	1	UGT2A3	4	69795715	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	65384395	69795715	121358561	15	11396											
EGF	1950	broad.mit.edu	37	4	110864421	110864421	+	Silent	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:110864421T>C	uc003hzy.4	+	2	791	c.339T>C	c.(337-339)aaT>aaC	p.N113N	EGF_uc011cfu.2_Silent_p.N113N|EGF_uc011cfv.2_Silent_p.N113N	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	113					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			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)	GAGTATGTAATATAGAGAAAA	0.254													C	110864421	T	C	110864421	2	2	164	1	0	0	0	0	0	0	0	1	4962	1403	49	4		4	EGF	4	110864421	Silent	SNP	T	TCGA-19-5951-01A-11D-1696-08	41068706	110864421	80289855	16	11397											
FAT4	79633	broad.mit.edu	37	4	126241369	126241369	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:126241369C>T	uc003ifj.4	+	0	3803	c.3803C>T	c.(3802-3804)aCa>aTa	p.T1268I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1268	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						GGTCAGGTAACACTAATTGGC	0.373													T	126241369	C	T	126241369	3	4	164	1	0	0	0	0	1	0	0	0	5692	478	17	3	3805	3	FAT4	4	126241369	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	15376948	126241369	64912907	17	11398											
INPP4B	8821	broad.mit.edu	37	4	143159105	143159105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:143159105G>A	uc003iix.4	-	12	1343	c.748C>T	c.(748-750)Cga>Tga	p.R250*	INPP4B_uc003iiw.4_Nonsense_Mutation_p.R250*|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Nonsense_Mutation_p.R65*|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Nonsense_Mutation_p.R121*	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	250					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.R250Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCTCGAATTCGCATCCACTTA	0.318													A	143159105	G	A	143159105	4	1	164	1	0	0	0	0	0	1	0	0	7753	1095	38	1	2086	1	INPP4B	4	143159105	Nonsense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	16917736	143159105	47995171	18	11399											
SH3RF1	57630	broad.mit.edu	37	4	170043337	170043337	+	Silent	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:170043337A>G	uc003isa.1	-	6	1595	c.1260T>C	c.(1258-1260)gcT>gcC	p.A420A	SH3RF1_uc010irc.1_Silent_p.A120A	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	420	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CAGCAGCAGCAGCGGCGGTGG	0.582													G	170043337	A	G	170043337	2	3	164	1	0	0	0	0	0	0	0	1	14258	175	7	4		4	SH3RF1	4	170043337	Silent	SNP	A	TCGA-19-5951-01A-11D-1696-08	26884232	170043337	21110939	19	11400											
DNAH5	1767	broad.mit.edu	37	5	13719110	13719110	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:13719110C>T	uc003jfd.2	-	71	12422	c.12380G>A	c.(12379-12381)cGc>cAc	p.R4127H	DNAH5_uc003jfc.2_Missense_Mutation_p.R295H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4127	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					CATCCAGAGGCGGAACGCATC	0.493									Kartagener syndrome				T	13719110	C	T	13719110	3	4	164	1	0	0	0	0	1	0	0	0	4604	768	27	1	1526	1	DNAH5	5	13719110	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		13719110	167196150	20	11401											
TRIO	7204	broad.mit.edu	37	5	14462975	14462975	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:14462975C>G	uc003jff.3	+	35	5614	c.5608C>G	c.(5608-5610)Ccg>Gcg	p.P1870A	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.P1519A	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1870					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGTGCCCCTGCCGCCACCCAT	0.652													G	14462975	C	G	14462975	3	3	164	1	0	0	0	0	1	0	0	0	16549	739	26	5	5750	5	TRIO	5	14462975	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	743865	14462975	166452285	21	11402											
GDNF	2668	broad.mit.edu	37	5	37816010	37816010	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:37816010C>T	uc011cpi.2	-	2	579	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	GDNF_uc011cpd.2_Missense_Mutation_p.V75I|GDNF_uc011cpe.2_Missense_Mutation_p.V101I|GDNF_uc011cpf.2_Missense_Mutation_p.V101I|GDNF_uc011cpg.2_Missense_Mutation_p.V144I|GDNF_uc011cph.2_Missense_Mutation_p.V118I	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	127					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					AAGTCAGTGACATTTAAATGT	0.493													T	37816010	C	T	37816010	3	4	164	1	0	0	0	0	1	0	0	0	6322	478	17	3	259	3	GDNF	5	37816010	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	23353035	37816010	143099250	22	11403											
PIK3R1	5295	broad.mit.edu	37	5	67589199	67589213	+	In_Frame_Del	DEL	TAACCTTCAGTTCTG	TAACCTTCAGTTCTG	-			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:67589199_67589213delTAACCTTCAGTTCTG	uc003jva.3	+	9	1767_1781	c.1187_1201delTAACCTTCAGTTCTG	c.(1186-1203)ttaaccttcagttctgtg>ttg	p.TFSSV397del	PIK3R1_uc003jvc.3_In_Frame_Del_p.TFSSV97del|PIK3R1_uc003jvd.3_In_Frame_Del_p.TFSSV127del|PIK3R1_uc003jve.3_In_Frame_Del_p.TFSSV76del|PIK3R1_uc021xzn.1_In_Frame_Del_p.TFSSV34del|PIK3R1_uc011crb.2_In_Frame_Del_p.TFSSV67del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	397	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCTGACCCATTAACCTTCAGTTCTGTGGTTGAATT	0.326			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589213	TAACCTTCAGTTCTG	-	67589199	7	5	164	1	0	1	0	1	0	0	0	0	11918	1764	61	0	1351	0	PIK3R1	5	67589199	In_Frame_Del	DEL	TAACCTTCAGTTCTG	TCGA-19-5951-01A-11D-1696-08	29773189	67589199	113326061	23	11404											
PCDHAC2	56142	broad.mit.edu	37	5	140208958	140208958	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:140208958C>T	uc003lho.2	+	0	1309	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R428W|PCDHAC2_uc011dab.2_Missense_Mutation_p.R428W	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	442	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAACCGCGCGGGACGGGGG	0.617													T	140208958	C	T	140208958	3	4	164	1	0	0	0	0	1	0	0	0	11533	759	27	1		1	PCDHAC2	5	140208958	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	72619759	140208958	40706302	24	11405											
PCDHGC5	56111	broad.mit.edu	37	5	140735359	140735359	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:140735359C>T	uc003ljq.2	+	0	592	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R198C	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	198	Cadherin 2.				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)			GGTGCTGGAACGCGCTCTAGA	0.562													T	140735359	C	T	140735359	3	4	164	1	0	0	0	0	1	0	0	0	11571	536	19	1		1	PCDHGC5	5	140735359	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	526401	140735359	40179901	25	11406											
PPARGC1B	133522	broad.mit.edu	37	5	149219665	149219665	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:149219665C>T	uc003lrc.3	+	8	2771	c.2680C>T	c.(2680-2682)Cgg>Tgg	p.R894W	PPARGC1B_uc003lrb.2_Missense_Mutation_p.R894W|PPARGC1B_uc003lrd.3_Missense_Mutation_p.R855W|PPARGC1B_uc021yfr.1_Missense_Mutation_p.R830W|PPARGC1B_uc003lre.1_Missense_Mutation_p.R873W|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R873W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	894					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGGAAGCGGCGGGAAAAGGC	0.577													T	149219665	C	T	149219665	3	4	164	1	0	0	0	0	1	0	0	0	12301	759	27	1	2721	1	PPARGC1B	5	149219665	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	8484306	149219665	31695595	26	11407											
NRN1	51299	broad.mit.edu	37	6	5999377	5999377	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr6:5999377C>T	uc003mwu.3	-	2	912	c.261G>A	c.(259-261)gcG>gcA	p.A87A	NRN1_uc021ykx.1_Non-coding_Transcript	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	87						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ACATATCTTTCGCCCCTTCCT	0.527													T	5999377	C	T	5999377	2	4	164	1	0	0	0	0	0	0	0	1	10658	871	31	2		2	NRN1	6	5999377	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		5999377	165115690	27	11408											
DSP	1832	broad.mit.edu	37	6	7584664	7584664	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr6:7584664T>C	uc003mxp.1	+	23	7448	c.7169T>C	c.(7168-7170)aTa>aCa	p.I2390T	DSP_uc003mxq.1_Missense_Mutation_p.I1791T|DSP_uc021yle.1_Missense_Mutation_p.I1947T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2390	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGTTGACATAGCATATAAG	0.443													C	7584664	T	C	7584664	3	2	164	1	0	0	0	0	1	0	0	0	4781	1406	49	4	7263	4	DSP	6	7584664	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	1585287	7584664	163530403	28	11409											
GPR146	115330	broad.mit.edu	37	7	1098107	1098107	+	Frame_Shift_Del	DEL	G	G	-	rs147446123		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:1098107delG	uc003sjx.4	+	1	1155	c.956delG	c.(955-957)cggfs	p.R319fs	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjy.1_Frame_Shift_Del_p.R319fs	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	Homo sapiens G protein-coupled receptor 146 (GPR146), mRNA.	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGCGGGGACCGGCACTGCTCC	0.617													-	1098107	G	-	1098107	7	5	164	1	0	1	0	1	0	0	0	0	6652	1116	39	0	958	0	GPR146	7	1098107	Frame_Shift_Del	DEL	G	TCGA-19-5951-01A-11D-1696-08		1098107	158040556	29	11410											
PDE1C	5137	broad.mit.edu	37	7	31855673	31855673	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:31855673C>T	uc003tcm.2	-	14	2139	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	PDE1C_uc003tcn.1_Missense_Mutation_p.A560T|PDE1C_uc003tco.2_Missense_Mutation_p.A620T|PDE1C_uc003tcr.3_Missense_Mutation_p.A560T|PDE1C_uc003tcs.3_Missense_Mutation_p.A560T	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	560					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			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)			TTGCCAGATGCGCCTTCTTCA	0.502													T	31855673	C	T	31855673	3	4	164	1	0	0	0	0	1	0	0	0	11635	768	27	1	238	1	PDE1C	7	31855673	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	30757566	31855673	127282990	30	11411											
CD36	948	broad.mit.edu	37	7	80295787	80295787	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:80295787G>A	uc003uhc.3	+	10	1414	c.730G>A	c.(730-732)Gac>Aac	p.D244N	CD36_uc011kgv.2_Missense_Mutation_p.D168N|CD36_uc003uhd.4_Missense_Mutation_p.D244N|CD36_uc003uhe.4_Missense_Mutation_p.D244N|CD36_uc003uhf.4_Missense_Mutation_p.D244N|CD36_uc003uhg.4_Missense_Mutation_p.D244N|CD36_uc003uhh.4_Missense_Mutation_p.D244N|CD36_uc022agu.1_Intron|CD36_uc022agv.1_Missense_Mutation_p.D184N	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	244					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AAGTCACTGCGACATGATTAA	0.348													A	80295787	G	A	80295787	3	1	164	1	0	0	0	0	1	0	0	0	3007	1058	37	2	752	2	CD36	7	80295787	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	48440114	80295787	78842876	31	11412											
SLC26A4	5172	broad.mit.edu	37	7	107303838	107303838	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:107303838G>A	uc003vep.3	+	2	486	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	LOC286002_uc003veo.3_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	88					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCTTAGTGACGTCATTTCGGG	0.502									Pendred syndrome				A	107303838	G	A	107303838	3	1	164	1	0	0	0	0	1	0	0	0	14519	1145	40	1	268	1	SLC26A4	7	107303838	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	27008051	107303838	51834825	32	11413											
WDR91	29062	broad.mit.edu	37	7	134874110	134874110	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:134874110A>G	uc003vsp.2	-	11	1816	c.1754T>C	c.(1753-1755)gTc>gCc	p.V585A	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Missense_Mutation_p.V174A	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	585										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGCCGGATGACGCCATCAGC	0.488													G	134874110	A	G	134874110	3	3	164	1	0	0	0	0	1	0	0	0	17335	275	10	4	505	4	WDR91	7	134874110	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	27570272	134874110	24264553	33	11414											
OR2F2	135948	broad.mit.edu	37	7	143632553	143632553	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:143632553C>T	uc011ktv.2	+	0	228	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T75R(1)|p.T75T(1)		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)					ATGCCACAAGCGTAGTCCCCC	0.517													T	143632553	C	T	143632553	2	4	164	1	0	0	0	0	0	0	0	1	10997	767	27	1		1	OR2F2	7	143632553	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	8758443	143632553	15506110	34	11415											
NOBOX	135935	broad.mit.edu	37	7	144098293	144098293	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:144098293G>T	uc022aoj.1	-	3	690	c.690C>A	c.(688-690)caC>caA	p.H230Q		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	230					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCACTGGGTTGTGTGTGGCAC	0.617													T	144098293	G	T	144098293	3	4	164	1	0	0	0	0	1	0	0	0	10512	1368	48	5	1317	5	NOBOX	7	144098293	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	465740	144098293	15040370	35	11416											
DOCK5	80005	broad.mit.edu	37	8	25246735	25246735	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:25246735G>A	uc003xeg.3	+	40	4397	c.4260G>A	c.(4258-4260)tcG>tcA	p.S1420S	DOCK5_uc003xek.3_Silent_p.S209S|DOCK5_uc003xei.3_Silent_p.S990S|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1420	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACATCAAGTCGTCCCCCAAGC	0.567													A	25246735	G	A	25246735	2	1	164	1	0	0	0	0	0	0	0	1	4690	1132	40	1		1	DOCK5	8	25246735	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		25246735	121117287	36	11417											
BRF2	55290	broad.mit.edu	37	8	37704528	37704528	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:37704528C>T	uc003xkk.3	-	2	510	c.380G>A	c.(379-381)cGa>cAa	p.R127Q		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	127					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GTTATGCTGTCGGCAGGTGAT	0.527													T	37704528	C	T	37704528	3	4	164	1	0	0	0	0	1	0	0	0	1511	884	31	2	887	2	BRF2	8	37704528	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	12457793	37704528	108659494	37	11418											
SOX17	64321	broad.mit.edu	37	8	55371633	55371633	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:55371633C>T	uc003xsb.4	+	1	527	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	108					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TCGTGGAAGGCGCTGACGCTG	0.701													T	55371633	C	T	55371633	3	4	164	1	0	0	0	0	1	0	0	0	14947	768	27	1	329	1	SOX17	8	55371633	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	17667105	55371633	90992389	38	11419											
WDR67	93594	broad.mit.edu	37	8	124113069	124113069	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:124113069A>G	uc003ypp.2	+	6	944	c.854A>G	c.(853-855)gAt>gGt	p.D285G	WDR67_uc011lig.2_Missense_Mutation_p.D285G|WDR67_uc011lih.2_Missense_Mutation_p.D175G|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_5'UTR|WDR67_uc003ypo.1_Missense_Mutation_p.D285G|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	285						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTAAGTCAAGATGGTATTATG	0.353													G	124113069	A	G	124113069	3	3	164	1	0	0	0	0	1	0	0	0	17315	333	12	4	880	4	WDR67	8	124113069	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	68741436	124113069	22250953	39	11420											
ADCY8	114	broad.mit.edu	37	8	131896832	131896832	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:131896832T>G	uc003ytd.4	-	7	2343	c.2087A>C	c.(2086-2088)aAa>aCa	p.K696T	ADCY8_uc010mds.3_Missense_Mutation_p.K696T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	696					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGGAGTCTTTAAACATCAG	0.468										HNSCC(32;0.087)			G	131896832	T	G	131896832	3	3	164	1	0	0	0	0	1	0	0	0	300	1841	64	5	1712	5	ADCY8	8	131896832	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	7783763	131896832	14467190	40	11421											
KIF24	347240	broad.mit.edu	37	9	34257897	34257897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:34257897G>A	uc003zua.4	-	10	1828	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	570					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCTGAATTCGTTTTGGAGAG	0.448													A	34257897	G	A	34257897	4	1	164	1	0	0	0	0	0	1	0	0	8292	1153	40	1	2410	1	KIF24	9	34257897	Nonsense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		34257897	106955534	41	11422											
COL15A1	1306	broad.mit.edu	37	9	101810265	101810265	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:101810265C>A	uc004azb.1	+	27	2982	c.2776C>A	c.(2776-2778)Cca>Aca	p.P926T		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	926	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAAAGGAGATCCAGGGGTCAT	0.617													A	101810265	C	A	101810265	3	1	164	1	0	0	0	0	1	0	0	0	3672	855	30	5	2886	5	COL15A1	9	101810265	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	67552368	101810265	39403166	42	11423											
C9orf86	55684	broad.mit.edu	37	9	139726289	139726289	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:139726289G>A	uc004cjj.1	+	5	1032	c.575G>A	c.(574-576)cGt>cAt	p.R192H	C9orf86_uc004cjm.2_Missense_Mutation_p.R192H|C9orf86_uc004cjh.3_Missense_Mutation_p.R192H|C9orf86_uc004cji.1_Missense_Mutation_p.R192H|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.R77H	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	192	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GACGACGTGCGTGACTTCATC	0.677													A	139726289	G	A	139726289	3	1	164	1	0	0	0	0	1	0	0	0	2502	1145	40	1	597	1	C9orf86	9	139726289	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	37916024	139726289	1487142	43	11424											
OR51A7	119687	broad.mit.edu	37	11	4929295	4929295	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:4929295G>T	uc010qyq.2	+	0	696	c.696G>T	c.(694-696)gaG>gaT	p.E232D		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		CTTTGGCAGAGAGGCTTAAGG	0.478													T	4929295	G	T	4929295	3	4	164	1	0	0	0	0	1	0	0	0	11088	933	33	5	698	5	OR51A7	11	4929295	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		4929295	130077221	44	11425											
OR52B6	340980	broad.mit.edu	37	11	5602633	5602633	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:5602633T>A	uc010qzi.2	+	0	527	c.527T>A	c.(526-528)tTt>tAt	p.F176Y	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATTATGTTTCCATCCATC	0.498													A	5602633	T	A	5602633	3	1	164	1	0	0	0	0	1	0	0	0	11113	1841	64	5	529	5	OR52B6	11	5602633	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	673338	5602633	129403883	45	11426											
PIK3C2A	5286	broad.mit.edu	37	11	17111388	17111388	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:17111388C>T	uc001mmq.4	-	31	5023	c.4958G>A	c.(4957-4959)cGg>cAg	p.R1653Q	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.R1273Q|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1653	C2.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AAAATTCTCCCGCAGAGATTC	0.413													T	17111388	C	T	17111388	3	4	164	1	0	0	0	0	1	0	0	0	11909	652	23	2	106	2	PIK3C2A	11	17111388	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	11508755	17111388	117895128	46	11427											
MS4A14	84689	broad.mit.edu	37	11	60184370	60184370	+	Silent	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:60184370T>C	uc001npj.3	+	4	2494	c.1929T>C	c.(1927-1929)gaT>gaC	p.D643D	MS4A14_uc001npi.3_Silent_p.D531D|MS4A14_uc001npn.3_Silent_p.D381D|MS4A14_uc001npk.3_Silent_p.D626D|MS4A14_uc001npl.3_Silent_p.D381D|MS4A14_uc001npm.3_Silent_p.D381D	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	643	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TATGCCAAGATTCAGAATCCC	0.473													C	60184370	T	C	60184370	2	2	164	1	0	0	0	0	0	0	0	1	9858	1490	52	4		4	MS4A14	11	60184370	Silent	SNP	T	TCGA-19-5951-01A-11D-1696-08	43072982	60184370	74822146	47	11428											
RBM14	5936	broad.mit.edu	37	11	66411465	66411465	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:66411465C>T	uc009yrj.3	+	2	1445	c.957C>T	c.(955-957)ccC>ccT	p.P319P	RBM14_uc009yrk.3_Silent_p.P294P|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Silent_p.P319P|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Silent_p.P319P	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.	510	Ala-rich.|TRBP-interacting domain.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCCAGTCCCCACTGTTGGAG	0.622													T	66411465	C	T	66411465	2	4	164	1	0	0	0	0	0	0	0	1	13115	581	21	3		3	RBM14	11	66411465	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	6227095	66411465	68595051	48	11429											
POU2AF1	5450	broad.mit.edu	37	11	111229596	111229596	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:111229596C>T	uc001plg.4	-	1	319	c.64G>A	c.(64-66)Gtc>Atc	p.V22I		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	22					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TTCACACGGACGCCCTGGTAT	0.647			T	BCL6	NHL								T	111229596	C	T	111229596	3	4	164	1	0	0	0	0	1	0	0	0	12270	536	19	1	722	1	POU2AF1	11	111229596	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	44818131	111229596	23776920	49	11430											
CD3E	916	broad.mit.edu	37	11	118183512	118183512	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:118183512T>C	uc001psq.4	+	5	539	c.283T>C	c.(283-285)Tat>Cat	p.Y95H	CD3E_uc010rya.2_Missense_Mutation_p.Y95H	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	95	Ig-like.				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	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;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GCAAAGTGGTTATTATGTCTG	0.443													C	118183512	T	C	118183512	3	2	164	1	0	0	0	0	1	0	0	0	3011	1754	61	4	301	4	CD3E	11	118183512	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	6953916	118183512	16823004	50	11431											
C1QTNF5	83552	broad.mit.edu	37	11	119215663	119215663	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:119215663G>A	uc010rzg.1	-	5	853	c.693C>T	c.(691-693)ctC>ctT	p.L231L	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	231	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGACCACCAGGAGGTGGCTGG	0.617													A	119215663	G	A	119215663	2	1	164	1	0	0	0	0	0	0	0	1	1966	1161	41	3		3	C1QTNF5	11	119215663	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	1032151	119215663	15790853	51	11432											
OR10G7	390265	broad.mit.edu	37	11	123909127	123909127	+	Silent	SNP	G	G	A	rs147011748	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:123909127G>A	uc001pzq.1	-	0	582	c.582C>T	c.(580-582)aaC>aaT	p.N194N		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N194N(2)|p.N194K(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGACCATCTCGTTGGCTGAGG	0.537													A	123909127	G	A	123909127	2	1	164	1	0	0	0	0	0	0	0	1	10902	1136	40	1		1	OR10G7	11	123909127	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	4693464	123909127	11097389	52	11433											
ACSM4	341392	broad.mit.edu	37	12	7456944	7456944	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:7456944G>A	uc001qsx.1	+	0	17	c.17G>A	c.(16-18)cGc>cAc	p.R6H		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	6					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATTTTTTTCCGCTACCAGACA	0.468													A	7456944	G	A	7456944	3	1	164	1	0	0	0	0	1	0	0	0	186	1087	38	1	19	1	ACSM4	12	7456944	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		7456944	126394951	53	11434											
SLCO1B3	28234	broad.mit.edu	37	12	21036410	21036410	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:21036410C>T	uc010sil.2	+	10	1621	c.1556C>T	c.(1555-1557)gCa>gTa	p.A519V	SLCO1B3_uc001rek.3_Missense_Mutation_p.A519V|SLCO1B3_uc001rel.3_Missense_Mutation_p.A519V|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	519					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AATTACTCAGCACACTTGGGT	0.338													T	21036410	C	T	21036410	3	4	164	1	0	0	0	0	1	0	0	0	14724	710	25	3	1598	3	SLCO1B3	12	21036410	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	13579466	21036410	112815485	54	11435											
ABCC9	10060	broad.mit.edu	37	12	21997448	21997448	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:21997448C>T	uc001rfh.3	-	25	3304	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	ABCC9_uc001rfi.1_Missense_Mutation_p.R1095H	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1095	ABC transmembrane type-1 2.				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			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)	AGCTGAAAAGCGATTGAGAAT	0.353													T	21997448	C	T	21997448	3	4	164	1	0	0	0	0	1	0	0	0	59	768	27	1	1559	1	ABCC9	12	21997448	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	961038	21997448	111854447	55	11436											
STK38L	23012	broad.mit.edu	37	12	27467499	27467499	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:27467499A>G	uc001rhr.3	+	6	779	c.580A>G	c.(580-582)Att>Gtt	p.I194V	STK38L_uc010sjm.2_Missense_Mutation_p.I101V|STK38L_uc010sjn.2_5'UTR	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	194	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ACAGTTCTACATTTCAGAGAC	0.378													G	27467499	A	G	27467499	3	3	164	1	0	0	0	0	1	0	0	0	15303	217	8	4	602	4	STK38L	12	27467499	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	5470051	27467499	106384396	56	11437											
CACNB3	784	broad.mit.edu	37	12	49218455	49218455	+	Silent	SNP	A	A	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:49218455A>G	uc001rsl.2	+	4	870	c.411A>G	c.(409-411)agA>agG	p.R137R	CACNB3_uc010slx.2_Silent_p.R124R|CACNB3_uc010sly.2_Silent_p.R124R|CACNB3_uc010slz.2_Silent_p.R136R|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Silent_p.R96R	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	137					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	TTCTCAGGAGATCTGGGAACC	0.483													G	49218455	A	G	49218455	2	3	164	1	0	0	0	0	0	0	0	1	2554	330	12	4		4	CACNB3	12	49218455	Silent	SNP	A	TCGA-19-5951-01A-11D-1696-08	21750956	49218455	84633440	57	11438											
RNF17	56163	broad.mit.edu	37	13	25444863	25444863	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr13:25444863C>T	uc001upr.3	+	31	4474	c.4433C>T	c.(4432-4434)aCg>aTg	p.T1478M	RNF17_uc010tde.2_Missense_Mutation_p.T1474M|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.T1417M|RNF17_uc010aac.3_Missense_Mutation_p.T670M|RNF17_uc010aad.3_Missense_Mutation_p.T488M	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1478					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)		CCTCCTCTGACGGATTTTAGA	0.423													T	25444863	C	T	25444863	3	4	164	1	0	0	0	0	1	0	0	0	13461	536	19	1	4559	1	RNF17	13	25444863	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		25444863	89725015	58	11439											
PCDH20	64881	broad.mit.edu	37	13	61985634	61985634	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr13:61985634C>T	uc001vid.4	-	1	2962	c.2598G>A	c.(2596-2598)gaG>gaA	p.E866E	PCDH20_uc010thj.2_Silent_p.E866E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	839					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTTCTTTCTCCTCTATATTAA	0.393													T	61985634	C	T	61985634	2	4	164	1	0	0	0	0	0	0	0	1	11515	680	24	3		3	PCDH20	13	61985634	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	36540771	61985634	53184244	59	11440											
OR4K17	390436	broad.mit.edu	37	14	20586156	20586156	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:20586156G>A	uc001vwo.1	+	0	591	c.591G>A	c.(589-591)ttG>ttA	p.L197L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGTGAACTTGCCCTTTTGTG	0.428													A	20586156	G	A	20586156	2	1	164	1	0	0	0	0	0	0	0	1	11071	1310	46	3		3	OR4K17	14	20586156	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		20586156	86763384	60	11441											
CLEC14A	161198	broad.mit.edu	37	14	38724256	38724256	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:38724256G>T	uc001wum.1	-	0	1319	c.972C>A	c.(970-972)gaC>gaA	p.D324E		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	324						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGCTTCTCGTCGACCCTGA	0.602													T	38724256	G	T	38724256	3	4	164	1	0	0	0	0	1	0	0	0	3499	1136	40	5	504	5	CLEC14A	14	38724256	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	18138100	38724256	68625284	61	11442											
PLEKHG3	26030	broad.mit.edu	37	14	65208951	65208951	+	Missense_Mutation	SNP	C	C	G	rs150120531	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:65208951C>G	uc001xhp.2	+	15	3118	c.3079C>G	c.(3079-3081)Cgc>Ggc	p.R1027G	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R850G|PLEKHG3_uc001xho.1_Missense_Mutation_p.R906G|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R448G|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R411G	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	906					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P1027Q(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACTGCACCCCCGCATCGTGCA	0.662													G	65208951	C	G	65208951	3	3	164	1	0	0	0	0	1	0	0	0	12070	652	23	5	2598	5	PLEKHG3	14	65208951	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	26484695	65208951	42140589	62	11443											
AK7	122481	broad.mit.edu	37	14	96864516	96864516	+	Missense_Mutation	SNP	A	A	T	rs17853407		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:96864516A>T	uc001yfn.2	+	1	254	c.210A>T	c.(208-210)aaA>aaT	p.K70N	AK7_uc001yfm.1_Missense_Mutation_p.K70N	NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	70					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTCAACCAAAGTGAAGGAAG	0.507													T	96864516	A	T	96864516	3	4	164	1	0	0	0	0	1	0	0	0	444	69	3	5	216	5	AK7	14	96864516	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	31655565	96864516	10485024	63	11444											
JAG2	3714	broad.mit.edu	37	14	105609273	105609273	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:105609273C>T	uc001yqg.3	-	25	3880	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	JAG2_uc001yqf.3_Missense_Mutation_p.R563H|JAG2_uc001yqh.3_Missense_Mutation_p.R1121H	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1159					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gtccgccctgcgcggcggcgg	0.721													T	105609273	C	T	105609273	3	4	164	1	0	0	0	0	1	0	0	0	7935	768	27	1	244	1	JAG2	14	105609273	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	8744757	105609273	1740267	64	11445											
PIF1	80119	broad.mit.edu	37	15	65110455	65110455	+	Splice_Site	DEL	C	C	-			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr15:65110455delC	uc002ant.2	-	10	1594	c.1528_splice	c.e10+1	p.G510_splice	PIF1_uc002anr.2_Splice_Site_p.G58_splice|PIF1_uc002ans.2_Splice_Site_p.G201_splice|PIF1_uc010uiq.1_Splice_Site_p.G510_splice	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	510	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCAACACTTACCTCTCCCTTC	0.582													-	65110455	C	-	65110455	8	5	164	1	0	1	0	1	0	0	1	0	11883	521	18	0	412	0	PIF1	15	65110455	Splice_Site	DEL	C	TCGA-19-5951-01A-11D-1696-08		65110455	37420937	65	11446											
LRRK1	79705	broad.mit.edu	37	15	101595366	101595366	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr15:101595366G>A	uc002bwr.3	+	26	4589	c.4270G>A	c.(4270-4272)Gtg>Atg	p.V1424M	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1424	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGCCCTAGGCGTGGAGGGCAC	0.567													A	101595366	G	A	101595366	3	1	164	1	0	0	0	0	1	0	0	0	9032	1145	40	1	4372	1	LRRK1	15	101595366	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	36484911	101595366	936026	66	11447											
SLC5A2	6524	broad.mit.edu	37	16	31500623	31500623	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:31500623G>A	uc002ecf.4	+	11	1648	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	543					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.L542F(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCACCCTCACGGTCTCCCTGT	0.637													A	31500623	G	A	31500623	2	1	164	1	0	0	0	0	0	0	0	1	14665	1103	39	2		2	SLC5A2	16	31500623	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		31500623	58854130	67	11448											
NOL3	8996	broad.mit.edu	37	16	67208819	67208819	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:67208819C>T	uc010vjd.2	+	2	774	c.581C>T	c.(580-582)cCg>cTg	p.P194L	NOL3_uc010vjc.2_Silent_p.P197P|NOL3_uc002erp.3_Silent_p.P197P	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	194					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		agcccgagcccgacttcgaGG	0.672													T	67208819	C	T	67208819	3	4	164	1	0	0	0	0	1	0	0	0	10523	652	23	2	597	2	NOL3	16	67208819	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	35708196	67208819	23145934	68	11449											
FOXL1	2300	broad.mit.edu	37	16	86613224	86613224	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:86613224G>A	uc002fjr.3	+	0	1110	c.895G>A	c.(895-897)Gcc>Acc	p.A299T		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	299					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut 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			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTCGCTCCTGGCCGCCTCCTC	0.672													A	86613224	G	A	86613224	3	1	164	1	0	0	0	0	1	0	0	0	6016	1203	42	3	897	3	FOXL1	16	86613224	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	19404405	86613224	3741529	69	11450											
TRPV1	7442	broad.mit.edu	37	17	3493599	3493599	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr17:3493599G>A	uc010vro.2	-	3	725	c.692C>T	c.(691-693)gCg>gTg	p.A231V	TRPV1_uc010vrp.2_Missense_Mutation_p.A231V|TRPV1_uc010vrq.2_Missense_Mutation_p.A229V|TRPV1_uc010vrr.2_Missense_Mutation_p.A231V|TRPV1_uc010vrs.2_Missense_Mutation_p.A231V|TRPV1_uc010vrt.2_Missense_Mutation_p.A231V|TRPV1_uc010vru.2_Missense_Mutation_p.A231V	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	231					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCCATGGGCCGCAGCCTGGAC	0.572													A	3493599	G	A	3493599	3	1	164	1	0	0	0	0	1	0	0	0	16592	1087	38	1	1548	1	TRPV1	17	3493599	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		3493599	77701611	70	11451											
POTEC	388468	broad.mit.edu	37	18	14542809	14542809	+	Missense_Mutation	SNP	C	C	T	rs113041483		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr18:14542809C>T	uc010dln.3	-	0	791	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	113										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCTTGCCGCTCCCCCTG	0.597													T	14542809	C	T	14542809	3	4	164	1	0	0	0	0	1	0	0	0	12262	652	23	2	1335	2	POTEC	18	14542809	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		14542809	63534439	71	11452											
ABCA7	10347	broad.mit.edu	37	19	1056425	1056425	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:1056425C>T	uc002lqw.4	+	32	4744	c.4513C>T	c.(4513-4515)Cgc>Tgc	p.R1505C	ABCA7_uc002lqy.3_5'Flank|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1505					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.A1504V(1)|p.R1505L(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)		AGGCCCGGCCCGCCACGCCCA	0.612													T	1056425	C	T	1056425	3	4	164	1	0	0	0	0	1	0	0	0	37	652	23	2	4639	2	ABCA7	19	1056425	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		1056425	58072558	72	11453											
EMR1	2015	broad.mit.edu	37	19	6906478	6906478	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:6906478C>T	uc002mfw.3	+	8	1022	c.984C>T	c.(982-984)ccC>ccT	p.P328P	EMR1_uc010dvc.3_Silent_p.P328P|EMR1_uc010dvb.3_Silent_p.P276P|EMR1_uc010xji.2_Silent_p.P187P|EMR1_uc010xjj.2_Silent_p.P151P	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	328	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGTGATACCCGATAATAAGC	0.388													T	6906478	C	T	6906478	2	4	164	1	0	0	0	0	0	0	0	1	5104	639	23	2		2	EMR1	19	6906478	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	5850053	6906478	52222505	73	11454											
RAVER1	125950	broad.mit.edu	37	19	10434234	10434234	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:10434234G>A	uc002moa.3	-	3	896	c.816C>T	c.(814-816)tgC>tgT	p.C272C		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	255	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667													A	10434234	G	A	10434234	2	1	164	1	0	0	0	0	0	0	0	1	13094	1079	38	1		1	RAVER1	19	10434234	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	3527756	10434234	48694749	74	11455											
ZNF676	163223	broad.mit.edu	37	19	22364159	22364159	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:22364159G>C	uc002nqs.1	-	2	678	c.360C>G	c.(358-360)aaC>aaG	p.N120K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAAAGACGTTTGCATATT	0.328													C	22364159	G	C	22364159	3	2	164	1	0	0	0	0	1	0	0	0	18080	1136	40	5	1410	5	ZNF676	19	22364159	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	11929925	22364159	36764824	75	11456											
PSG7	5676	broad.mit.edu	37	19	43441294	43441294	+	Translation_Start_Site	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:43441294C>T	uc002ovl.4	-	0					PSG3_uc002ouf.3_5'Flank|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_5'UTR	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.						female pregnancy	extracellular region							Prostate(69;0.00682)				TTCCTGAGCACGGCTGTCAGC	0.617													T	43441294	C	T	43441294	1	4	164	1	0	0	0	0	0	0	0	0	12660	551	19	1		1	PSG7	19	43441294	Translation_Start_Site	SNP	C	TCGA-19-5951-01A-11D-1696-08	21077135	43441294	15687689	76	11457											
C5AR1	728	broad.mit.edu	37	19	47823567	47823567	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:47823567G>A	uc002pgj.1	+	1	582	c.533G>A	c.(532-534)cGg>cAg	p.R178Q		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	178					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			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)		CGGGTGGTCCGGGAGGAGTAC	0.637													A	47823567	G	A	47823567	3	1	164	1	0	0	0	0	1	0	0	0	2281	1116	39	2	538	2	C5AR1	19	47823567	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	4382273	47823567	11305416	77	11458											
POLD1	5424	broad.mit.edu	37	19	50918754	50918754	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:50918754G>A	uc010eny.3	+	19	2703	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	POLD1_uc002psb.4_Missense_Mutation_p.R875H|POLD1_uc002psc.4_Missense_Mutation_p.R875H|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	875					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGTGCAACCGCATCGATATC	0.657								DNA polymerases (catalytic subunits)					A	50918754	G	A	50918754	3	1	164	1	0	0	0	0	1	0	0	0	12190	1087	38	1	2702	1	POLD1	19	50918754	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	3095187	50918754	8210229	78	11459											
SNX5	27131	broad.mit.edu	37	20	17929612	17929612	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr20:17929612C>T	uc002wqc.3	-	9	926	c.840G>A	c.(838-840)gaG>gaA	p.E280E	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.E280E|SNX5_uc002wqe.3_Silent_p.E175E|SNX5_uc010zrt.1_Silent_p.E280E	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	280	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	p.E280D(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						AAACTCGACCCTCTACTTTCT	0.383													T	17929612	C	T	17929612	2	4	164	1	0	0	0	0	0	0	0	1	14905	680	24	3		3	SNX5	20	17929612	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		17929612	45095908	79	11460											
NCOA3	8202	broad.mit.edu	37	20	46264906	46264906	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr20:46264906C>T	uc002xtk.3	+	11	2037	c.1776C>T	c.(1774-1776)caC>caT	p.H592H	NCOA3_uc002xtl.3_Silent_p.H592H|NCOA3_uc002xtn.3_Silent_p.H592H|NCOA3_uc010ght.2_Silent_p.H602H|NCOA3_uc002xtm.3_Silent_p.H592H|NCOA3_uc010zyc.2_Silent_p.H387H	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	592	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGAGATCACCTCAGTGACA	0.423													T	46264906	C	T	46264906	2	4	164	1	0	0	0	0	0	0	0	1	10230	506	18	3		3	NCOA3	20	46264906	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	28335294	46264906	16760614	80	11461											
DSCAM	1826	broad.mit.edu	37	21	41455893	41455893	+	Silent	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr21:41455893C>T	uc002yyq.1	-	23	4625	c.4173G>A	c.(4171-4173)acG>acA	p.T1391T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1391	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAGGAAGACGTGGTCTTGG	0.433													T	41455893	C	T	41455893	2	4	164	1	0	0	0	0	0	0	0	1	4768	523	19	1		1	DSCAM	21	41455893	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		41455893	6674002	81	11462											
ARSH	347527	broad.mit.edu	37	X	2931164	2931164	+	Silent	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:2931164G>A	uc011mhj.2	+	2	291	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	97						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCAATGAAACGACTTTTGCCA	0.552													A	2931164	G	A	2931164	2	1	164	1	0	0	0	0	0	0	0	1	993	1045	37	2		2	ARSH	23	2931164	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		2931164	152339396	82	11463											
ELK1	2002	broad.mit.edu	37	X	47496310	47496310	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:47496310C>T	uc004dik.4	-	6	1527	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N	ELK1_uc010nhv.3_Missense_Mutation_p.S402N|ELK1_uc010nhw.3_Missense_Mutation_p.S292N|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	402					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CACCTGGGCGCTGCCACTGGA	0.597													T	47496310	C	T	47496310	3	4	164	1	0	0	0	0	1	0	0	0	5059	797	28	3	85	3	ELK1	23	47496310	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	44565146	47496310	107774250	83	11464											
ZNF182	7569	broad.mit.edu	37	X	47842806	47842806	+	Silent	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:47842806T>C	uc004dir.3	-	4	424	c.78A>G	c.(76-78)ctA>ctG	p.L26L	ZNF182_uc004dis.3_Silent_p.L7L|ZNF182_uc004dit.3_Silent_p.L26L|ZNF630_uc010nhz.1_Non-coding_Transcript	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CAAATGTCACTAGCCCCTGTA	0.463													C	47842806	T	C	47842806	2	2	164	1	0	0	0	0	0	0	0	1	17747	1509	53	4		4	ZNF182	23	47842806	Silent	SNP	T	TCGA-19-5951-01A-11D-1696-08	346496	47842806	107427754	84	11465											
WAS	7454	broad.mit.edu	37	X	48545194	48545194	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:48545194T>G	uc004dkm.4	+	6	641	c.584T>G	c.(583-585)cTg>cGg	p.L195R		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	195					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCGCTCTCCCTGGGGCTGGCG	0.582			"Mis, N, F, S"			lymphoma							G	48545194	T	G	48545194	3	3	164	1	0	0	0	0	1	0	0	0	17248	1580	55	5	610	5	WAS	23	48545194	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	702388	48545194	106725366	85	11466											
SHROOM4	57477	broad.mit.edu	37	X	50377938	50377938	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:50377938C>T	uc004dpe.2	-	3	1161	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.V263M	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	379					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTGGAATCCACGCTGGAAGCT	0.542													T	50377938	C	T	50377938	3	4	164	1	0	0	0	0	1	0	0	0	14296	536	19	1	3370	1	SHROOM4	23	50377938	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	1832744	50377938	104892622	86	11467											
ERCC6L	54821	broad.mit.edu	37	X	71425657	71425657	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:71425657T>C	uc004eaq.1	-	1	3057	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.N864S	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	987					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCTCTGGAATTAGGTGCAGA	0.393													C	71425657	T	C	71425657	3	2	164	1	0	0	0	0	1	0	0	0	5218	1493	52	4	796	4	ERCC6L	23	71425657	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	21047719	71425657	83844903	87	11468											
AMOT	154796	broad.mit.edu	37	X	112025789	112025789	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:112025789C>A	uc004epr.3	-	7	2237	c.2219G>T	c.(2218-2220)cGt>cTt	p.R740L	AMOT_uc004eps.3_Missense_Mutation_p.R331L|AMOT_uc011mtc.1_5'Flank|MIR4329_uc022ccu.1_5'Flank	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	740					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTCAAGGCAACGCTTATTGGC	0.453													A	112025789	C	A	112025789	3	1	164	1	0	0	0	0	1	0	0	0	582	536	19	5	1051	5	AMOT	23	112025789	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	40600132	112025789	43244771	88	11469											
FAM70A	55026	broad.mit.edu	37	X	119410875	119410875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:119410875G>T	uc004eso.4	-	7	839	c.612C>A	c.(610-612)taC>taA	p.Y204*	FAM70A_uc004esp.4_Nonsense_Mutation_p.Y180*|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	204						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CGATGTATTCGTAGTACCCAC	0.582													T	119410875	G	T	119410875	4	4	164	1	0	0	0	0	0	1	0	0	5605	1140	40	5	449	5	FAM70A	23	119410875	Nonsense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	7385086	119410875	35859685	89	11470											
GDI1	2664	broad.mit.edu	37	X	153666947	153666947	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:153666947G>A	uc004fli.4	+	1	466	c.124G>A	c.(124-126)Gag>Aag	p.E42K	GDI1_uc011mzo.1_Missense_Mutation_p.E42K	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	42					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACGGGGGCGAGAGCTCCTC	0.617													A	153666947	G	A	153666947	3	1	164	1	0	0	0	0	1	0	0	0	6320	1059	37	2	130	2	GDI1	23	153666947	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	34256072	153666947	1603613	90	11471											
NBPF1	55672	broad.mit.edu	37	1	16893838	16893838	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:16893838C>T	uc009vos.1	-	24	3563	c.2675G>A	c.(2674-2676)aGg>aAg	p.R892K	NBPF1_uc009vot.1_Missense_Mutation_p.R350K|NBPF1_uc001ayz.1_Missense_Mutation_p.R350K|NBPF1_uc010oce.1_Missense_Mutation_p.R621K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	892	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGCAGCTCCCTGCTGAGCCT	0.473													T	16893838	C	T	16893838	3	4	165	1	0	0	0	0	1	0	0	0	10192	681	24	3	769	3	NBPF1	1	16893838	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		16893838	232356783	1	11472											
PLK3	1263	broad.mit.edu	37	1	45271002	45271002	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:45271002T>C	uc001cmn.3	+	13	1800	c.1700T>C	c.(1699-1701)gTc>gCc	p.V567A		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	567	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTGCAGTGGGTCAAGACGGAT	0.602													C	45271002	T	C	45271002	3	2	165	1	0	0	0	0	1	0	0	0	12097	1667	58	4	1754	4	PLK3	1	45271002	Missense_Mutation	SNP	T	TCGA-19-5952-01A-11D-1696-08	28377164	45271002	203979619	2	11473											
LGALS8	3964	broad.mit.edu	37	1	236700824	236700824	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:236700824G>A	uc001hxz.2	+	3	454	c.73G>A	c.(73-75)Gat>Aat	p.D25N	LGALS8_uc001hxw.2_Missense_Mutation_p.D25N|LGALS8_uc001hxy.2_Missense_Mutation_p.D25N|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.D25N|LGALS8_uc001hyc.2_Missense_Mutation_p.D25N	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	25	Galectin 1.					cytoplasm|extracellular space	sugar binding	p.P24P(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACCATTCCTGATCAGCTGGA	0.393													A	236700824	G	A	236700824	3	1	165	1	0	0	0	0	1	0	0	0	8747	1290	45	3	79	3	LGALS8	1	236700824	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	191429822	236700824	12549797	3	11474											
GPR17	2840	broad.mit.edu	37	2	128408657	128408657	+	Silent	SNP	C	C	T	rs61749508		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:128408657C>T	uc010yzn.2	+	3	1043	c.432C>T	c.(430-432)taC>taT	p.Y144Y	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Silent_p.Y144Y|GPR17_uc010yzo.2_Silent_p.Y116Y|GPR17_uc002tpd.3_Silent_p.Y116Y	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	144						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCAACATGTACGCCAGCATCT	0.602													T	128408657	C	T	128408657	2	4	165	1	0	0	0	0	0	0	0	1	6667	547	19	1		1	GPR17	2	128408657	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08		128408657	114790716	4	11475											
TTN	7273	broad.mit.edu	37	2	179548796	179548796	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:179548796C>T	uc021vsy.1	-	129	29229	c.29004G>A	c.(29002-29004)ccG>ccA	p.P9668P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P6329P|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10595	Ig-like 78.						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)			CAGCTCTCTTCGGTTCCTCTG	0.368													T	179548796	C	T	179548796	2	4	165	1	0	0	0	0	0	0	0	1	16732	871	31	2		2	TTN	2	179548796	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	51140139	179548796	63650577	5	11476											
CX3CR1	1524	broad.mit.edu	37	3	39307959	39307959	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:39307959G>A	uc021wwc.1	-	1	178	c.138C>T	c.(136-138)taC>taT	p.Y46Y	CX3CR1_uc021wwa.1_Silent_p.Y14Y|CX3CR1_uc021wwb.1_Silent_p.Y14Y|CX3CR1_uc003cjl.3_Silent_p.Y14Y|CX3CR1_uc021wwd.1_Silent_p.Y14Y	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	14					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCAAATCATCGTACTCAAAGT	0.443													A	39307959	G	A	39307959	2	1	165	1	0	0	0	0	0	0	0	1	4075	1140	40	1		1	CX3CR1	3	39307959	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08		39307959	158714471	6	11477											
WDR82	80335	broad.mit.edu	37	3	52292683	52292683	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:52292683C>T	uc003ddl.2	-	7	1063	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	WDR82_uc003ddk.2_Missense_Mutation_p.G186S	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	261					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGGATCTTGCCATCCTCTGAA	0.438													T	52292683	C	T	52292683	3	4	165	1	0	0	0	0	1	0	0	0	17328	594	21	3	168	3	WDR82	3	52292683	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	12984724	52292683	145729747	7	11478											
TRH	7200	broad.mit.edu	37	3	129695840	129695840	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:129695840G>A	uc003enc.3	+	2	1071	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(2)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642													A	129695840	G	A	129695840	2	1	165	1	0	0	0	0	0	0	0	1	16475	991	35	3		3	TRH	3	129695840	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08	77403157	129695840	68326590	8	11479											
GFM1	85476	broad.mit.edu	37	3	158378683	158378683	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:158378683C>T	uc003fce.3	+	9	1349	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	GFM1_uc003fcd.3_Silent_p.A414A|GFM1_uc003fcg.3_Silent_p.A345A	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	414					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAGTATATGCCGGAGACATCT	0.353													T	158378683	C	T	158378683	2	4	165	1	0	0	0	0	0	0	0	1	6341	639	23	2		2	GFM1	3	158378683	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	28682843	158378683	39643747	9	11480											
FGG	2266	broad.mit.edu	37	4	155528019	155528019	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr4:155528019C>T	uc003ioj.3	-	7	1108	c.967G>A	c.(967-969)Gat>Aat	p.D323N	FGG_uc003iog.3_Missense_Mutation_p.D323N	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	323	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTAGGATCATCGCCAAAATCA	0.468													T	155528019	C	T	155528019	3	4	165	1	0	0	0	0	1	0	0	0	5870	884	31	2	421	2	FGG	4	155528019	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		155528019	35626257	10	11481											
IRX4	50805	broad.mit.edu	37	5	1880903	1880903	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:1880903G>A	uc003jcz.2	-	2	462	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	IRX4_uc011cmf.1_5'UTR	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	115					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCTGGTGCCAGGCCCCCATGC	0.622													A	1880903	G	A	1880903	2	1	165	1	0	0	0	0	0	0	0	1	7846	991	35	3		3	IRX4	5	1880903	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08		1880903	179034357	11	11482											
TRPC7	57113	broad.mit.edu	37	5	135692954	135692954	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:135692954G>A	uc003lbn.2	-	1	344	c.122C>T	c.(121-123)aCg>aTg	p.T41M	TRPC7_uc010jef.2_Missense_Mutation_p.T32M|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.T41M|TRPC7_uc010jei.2_Missense_Mutation_p.T41M	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	41					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCTCGGGCGTCAGACTGGT	0.602													A	135692954	G	A	135692954	3	1	165	1	0	0	0	0	1	0	0	0	16581	1145	40	1	2510	1	TRPC7	5	135692954	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	133812051	135692954	45222306	12	11483											
PCDHGC5	56109	broad.mit.edu	37	5	140754770	140754770	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:140754770C>T	uc003ljy.2	+	0	1120	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	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_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.R374*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	377	Cadherin 4.				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)			AGTGTTCGATCGAGACTCTGG	0.428													T	140754770	C	T	140754770	4	4	165	1	0	0	0	0	0	1	0	0	11571	876	31	2		2	PCDHGC5	5	140754770	Nonsense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	5061816	140754770	40160490	13	11484											
FBXO38	81545	broad.mit.edu	37	5	147807296	147807296	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:147807296C>T	uc003lpf.1	+	14	2559	c.2439C>T	c.(2437-2439)tcC>tcT	p.S813S	FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	813						cytoplasm|nucleus			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)			GTACGAGATCCGCCTTTTCCT	0.567													T	147807296	C	T	147807296	2	4	165	1	0	0	0	0	0	0	0	1	5746	639	23	2		2	FBXO38	5	147807296	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	7052526	147807296	33107964	14	11485											
FAM54A	113115	broad.mit.edu	37	6	136554632	136554632	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr6:136554632G>A	uc010kgp.1	-	6	1265	c.875C>T	c.(874-876)cCt>cTt	p.P292L	FAM54A_uc003qgt.1_Missense_Mutation_p.P292L|FAM54A_uc003qgu.1_Missense_Mutation_p.P249L	NM_001099286	NP_612428	Q6P444	FA54A_HUMAN	Homo sapiens family with sequence similarity 54, member A (FAM54A), transcript variant 1, mRNA.	292										endometrium(2)|kidney(1)|large_intestine(5)|lung(1)|skin(2)	11	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)		TCTACCGCCAGGTGACCtatt	0.318													A	136554632	G	A	136554632	3	1	165	1	0	0	0	0	1	0	0	0	5582	1000	35	3	290	3	FAM54A	6	136554632	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08		136554632	34560435	15	11486											
SDK1	221935	broad.mit.edu	37	7	3991529	3991529	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:3991529C>T	uc003smx.3	+	6	1266	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCGGCCAGGGCGACGGCCTTT	0.577													T	3991529	C	T	3991529	3	4	165	1	0	0	0	0	1	0	0	0	13968	768	27	1	1153	1	SDK1	7	3991529	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		3991529	155147134	16	11487											
CALCR	799	broad.mit.edu	37	7	93055883	93055883	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:93055883G>A	uc003umv.2	-	15	1612	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R404C|CALCR_uc003umw.2_Missense_Mutation_p.R404C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	420					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R438C(1)|p.R404C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCCCATTGGCGCTTCACGGTG	0.537													A	93055883	G	A	93055883	3	1	165	1	0	0	0	0	1	0	0	0	2579	1087	38	1	218	1	CALCR	7	93055883	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	89064354	93055883	66082780	17	11488											
KIAA1549	57670	broad.mit.edu	37	7	138593736	138593736	+	Splice_Site	SNP	C	C	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:138593736C>A	uc011kql.2	-	5	3325	c.3276_splice	c.e5+1	p.Q1092_splice	KIAA1549_uc011kqj.2_Splice_Site_p.Q1092_splice	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1092						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATATTCTCACCTGCACCGTG	0.468			O	BRAF	pilocytic astrocytoma								A	138593736	C	A	138593736	5	1	165	1	0	0	0	0	0	0	1	0	8244	521	18	5	2639	5	KIAA1549	7	138593736	Splice_Site	SNP	C	TCGA-19-5952-01A-11D-1696-08	45537853	138593736	20544927	18	11489											
PRKAG2	51422	broad.mit.edu	37	7	151261177	151261177	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:151261177A>T	uc003wkk.3	-	13	2182	c.1571T>A	c.(1570-1572)aTa>aAa	p.I524K	PRKAG2_uc003wki.3_Missense_Mutation_p.I283K|PRKAG2_uc011kvl.2_Missense_Mutation_p.I399K|PRKAG2_uc003wkj.3_Missense_Mutation_p.I480K|PRKAG2_uc003wkl.2_Missense_Mutation_p.I72K	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	524	CBS 4.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGCTCTTACTATTCTGTCCAC	0.517													T	151261177	A	T	151261177	3	4	165	1	0	0	0	0	1	0	0	0	12501	449	16	5	150	5	PRKAG2	7	151261177	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	12667441	151261177	7877486	19	11490											
FRMD3	257019	broad.mit.edu	37	9	85913683	85913683	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr9:85913683C>T	uc004ams.2	-	11	1252	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	FRMD3_uc004amr.1_Silent_p.R350R|FRMD3_uc022bja.1_Silent_p.R306R|FRMD3_uc022biz.1_Silent_p.R156R	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	350						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGGAGGCTCCCTCTGGATCT	0.493													T	85913683	C	T	85913683	2	4	165	1	0	0	0	0	0	0	0	1	6050	622	22	3		3	FRMD3	9	85913683	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08		85913683	55299748	20	11491											
LRRC8A	56262	broad.mit.edu	37	9	131669841	131669841	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr9:131669841C>T	uc004bwl.4	+	2	652	c.398C>T	c.(397-399)aCg>aTg	p.T133M	LRRC8A_uc010myp.3_Missense_Mutation_p.T133M|LRRC8A_uc010myq.3_Missense_Mutation_p.T133M	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	133					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTTCTGCACACGCTCATCTTC	0.557													T	131669841	C	T	131669841	3	4	165	1	0	0	0	0	1	0	0	0	9021	536	19	1	400	1	LRRC8A	9	131669841	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	45756158	131669841	9543590	21	11492											
APBB1IP	54518	broad.mit.edu	37	10	26849669	26849672	+	Frame_Shift_Del	DEL	CTCT	CTCT	-	rs145279460		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:26849669_26849672delCTCT	uc001iss.3	+	12	1586_1589	c.1265_1268delCTCT	c.(1264-1269)actctcfs	p.T422fs		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	422					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TATGGGAAGACTCTCTATGATAAC	0.461													-	26849672	CTCT	-	26849669	7	5	165	1	0	1	0	1	0	0	0	0	760	565	20	0	1307	0	APBB1IP	10	26849669	Frame_Shift_Del	DEL	CTCT	TCGA-19-5952-01A-11D-1696-08		26849669	108685078	22	11493											
SYT15	83849	broad.mit.edu	37	10	46965845	46965845	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:46965845G>T	uc001jea.3	-	4	845	c.692C>A	c.(691-693)tCc>tAc	p.S231Y	SYT15_uc001jdz.2_Missense_Mutation_p.S231Y|SYT15_uc001jeb.3_Missense_Mutation_p.S109Y|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	231	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTGGTAGACGGAGAACTTCAG	0.622													T	46965845	G	T	46965845	3	4	165	1	0	0	0	0	1	0	0	0	15468	1174	41	5	643	5	SYT15	10	46965845	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	20116176	46965845	88568902	23	11494											
PTEN	5728	broad.mit.edu	37	10	89692911	89692911	+	Missense_Mutation	SNP	G	G	A	rs121909241		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:89692911G>A	uc001kfb.3	+	4	1427	c.395G>A	c.(394-396)gGt>gAt	p.G132D	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	132	Phosphatase tensin-type.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.G132D(9)|p.?(5)|p.R55fs*1(5)|p.G132V(3)|p.G132S(3)|p.T131fs*3(3)|p.A121_F145del(2)|p.Y27fs*1(2)|p.T131fs*42(2)|p.Y27_N212>Y(2)|p.T131fs*50(1)|p.T131I(1)|p.G132fs*2(1)|p.R130fs*2(1)|p.T131N(1)|p.T131P(1)|p.T131A(1)|p.G132R(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692911	G	A	89692911	3	1	165	1	0	0	0	0	1	0	0	0	12738	1261	44	3	413	3	PTEN	10	89692911	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	42727066	89692911	45841836	24	11495											
PSD	5662	broad.mit.edu	37	10	104171572	104171572	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:104171572A>G	uc001kvg.1	-	7	2361	c.1834T>C	c.(1834-1836)Ttt>Ctt	p.F612L	PSD_uc001kvh.1_Missense_Mutation_p.F233L|PSD_uc009xxd.1_Missense_Mutation_p.F612L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	612	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCTTCAGAAACACCCTGGAG	0.582													G	104171572	A	G	104171572	3	3	165	1	0	0	0	0	1	0	0	0	12646	43	2	4	1280	4	PSD	10	104171572	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	14478661	104171572	31363175	25	11496											
OR8K3	219473	broad.mit.edu	37	11	56086192	56086192	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:56086192C>T	uc010rjf.2	+	0	410	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S137*(2)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTAATCATGTCACGAAGGGTA	0.413													T	56086192	C	T	56086192	3	4	165	1	0	0	0	0	1	0	0	0	11244	838	29	3	412	3	OR8K3	11	56086192	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		56086192	78920324	26	11497											
OR5B3	441608	broad.mit.edu	37	11	58170525	58170525	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:58170525G>A	uc010rkf.2	-	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCATAGCGGTCATAGGCC	0.468													A	58170525	G	A	58170525	3	1	165	1	0	0	0	0	1	0	0	0	11152	1116	39	2	588	2	OR5B3	11	58170525	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	2084333	58170525	76835991	27	11498											
CLPB	81570	broad.mit.edu	37	11	72114088	72114088	+	Nonsense_Mutation	SNP	G	G	C			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:72114088G>C	uc001osj.3	-	2	514	c.464C>G	c.(463-465)tCa>tGa	p.S155*	CLPB_uc010rqx.2_Nonsense_Mutation_p.S110*|CLPB_uc010rqy.2_Intron|CLPB_uc001osk.3_Nonsense_Mutation_p.S155*|CLPB_uc010rqz.2_Intron	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	155					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGCACCTTCTGACAACAGCCT	0.458													C	72114088	G	C	72114088	4	2	165	1	0	0	0	0	0	1	0	0	3551	1294	45	5	1719	5	CLPB	11	72114088	Nonsense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	13943563	72114088	62892428	28	11499											
MMP1	4312	broad.mit.edu	37	11	102665949	102665949	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:102665949A>T	uc001phi.2	-	5	998	c.855T>A	c.(853-855)gaT>gaA	p.D285E	LOC100288077_uc001phh.1_Non-coding_Transcript|MMP1_uc010ruv.1_Missense_Mutation_p.D219E	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	285	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TAGTTATAGCATCAAAGGTTA	0.403													T	102665949	A	T	102665949	3	4	165	1	0	0	0	0	1	0	0	0	9648	214	8	5	574	5	MMP1	11	102665949	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	30551861	102665949	32340567	29	11500											
DSCAML1	57453	broad.mit.edu	37	11	117329509	117329509	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:117329509C>T	uc001prh.1	-	18	3711	c.3709G>A	c.(3709-3711)Gta>Ata	p.V1237I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1177	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.G1236G(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGCTGCGTACGCCGTCCCCA	0.652													T	117329509	C	T	117329509	3	4	165	1	0	0	0	0	1	0	0	0	4769	536	19	1	2692	1	DSCAML1	11	117329509	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	14663560	117329509	17677007	30	11501											
KIAA1467	57613	broad.mit.edu	37	12	13215874	13215874	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:13215874C>G	uc001rbi.3	+	4	840	c.817C>G	c.(817-819)Cga>Gga	p.R273G	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	273						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGACGGTGTTCGAGACCTTGT	0.448													G	13215874	C	G	13215874	3	3	165	1	0	0	0	0	1	0	0	0	8235	876	31	5	835	5	KIAA1467	12	13215874	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		13215874	120636021	31	11502											
PIK3C2G	5288	broad.mit.edu	37	12	18435551	18435551	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:18435551A>G	uc001rdt.3	+	1	652	c.536A>G	c.(535-537)aAt>aGt	p.N179S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.N179S|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	179					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCTCCAACAAATTCATCCTTC	0.343													G	18435551	A	G	18435551	3	3	165	1	0	0	0	0	1	0	0	0	11911	101	4	4	538	4	PIK3C2G	12	18435551	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	5219677	18435551	115416344	32	11503											
TMEM132D	121256	broad.mit.edu	37	12	129559351	129559351	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:129559351G>A	uc009zyl.1	-	8	2697	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	TMEM132D_uc001uia.2_Missense_Mutation_p.T328M	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	790						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)		GATGTTTGCCGTTCCAACAGC	0.483													A	129559351	G	A	129559351	3	1	165	1	0	0	0	0	1	0	0	0	16044	1145	40	1	934	1	TMEM132D	12	129559351	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	111123800	129559351	4292544	33	11504											
ADCY4	196883	broad.mit.edu	37	14	24787905	24787905	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr14:24787905G>A	uc001wow.3	-	23	3455	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	ADCY4_uc010toh.2_Silent_p.N698N|ADCY4_uc001wox.3_Silent_p.N1012N|ADCY4_uc001woy.3_Silent_p.N1012N	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	1012					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			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)		GGCTGGCCACGTTCACTGTGT	0.537													A	24787905	G	A	24787905	2	1	165	1	0	0	0	0	0	0	0	1	296	1136	40	1		1	ADCY4	14	24787905	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08		24787905	82561635	34	11505											
SERPINA1	5265	broad.mit.edu	37	14	94849557	94849557	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr14:94849557C>T	uc001ycy.4	-	3	572	c.18G>A	c.(16-18)tcG>tcA	p.S6S	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.S6S|SERPINA1_uc010auy.3_Silent_p.S6S|SERPINA1_uc001ycz.4_Silent_p.S6S|SERPINA1_uc010auz.3_Silent_p.S6S|SERPINA1_uc010ava.3_Silent_p.S6S|SERPINA1_uc001ydb.4_Silent_p.S6S|SERPINA1_uc010avb.3_Silent_p.S6S|SERPINA1_uc001ydc.4_Silent_p.S6S|SERPINA1_uc010auw.3_Silent_p.S6S|SERPINA1_uc010aux.3_Silent_p.S6S|SERPINA1_uc001yda.1_Silent_p.S6S	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	6					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GGATGCCCCACGAGACAGAAG	0.612													T	94849557	C	T	94849557	2	4	165	1	0	0	0	0	0	0	0	1	14086	523	19	1		1	SERPINA1	14	94849557	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	70061652	94849557	12499983	35	11506											
RYR3	6263	broad.mit.edu	37	15	34064164	34064164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr15:34064164C>T	uc001zhi.3	+	62	8930	c.8860C>T	c.(8860-8862)Cga>Tga	p.R2954*	RYR3_uc010bar.3_Nonsense_Mutation_p.R2954*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2954					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)		GGCTGGGTTACGAGCATTCTT	0.448													T	34064164	C	T	34064164	4	4	165	1	0	0	0	0	0	1	0	0	13770	528	19	1	9110	1	RYR3	15	34064164	Nonsense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		34064164	68467228	36	11507											
ODF4	146852	broad.mit.edu	37	17	8243551	8243551	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:8243551G>A	uc002gle.1	+	0	364	c.182G>A	c.(181-183)cGc>cAc	p.R61H		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R61S(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						TTGGGCCAGCGCCAGAACTCT	0.587													A	8243551	G	A	8243551	3	1	165	1	0	0	0	0	1	0	0	0	10833	1087	38	1	184	1	ODF4	17	8243551	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08		8243551	72951659	37	11508											
PPP1R1B	84152	broad.mit.edu	37	17	37791907	37791907	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:37791907C>T	uc002hrz.3	+	5	962	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	PPP1R1B_uc010cvx.3_Missense_Mutation_p.R132C|PPP1R1B_uc002hsb.3_Missense_Mutation_p.R129C|PPP1R1B_uc002hsc.3_Missense_Mutation_p.R129C|STARD3_uc010weg.2_5'Flank|STARD3_uc010wei.2_5'Flank|STARD3_uc002hsd.3_5'Flank|STARD3_uc002hse.3_5'Flank|STARD3_uc010weh.2_5'Flank	NM_032192	NP_852606	Q9UD71	PPR1B_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA.	165					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCCTGGGAGCGCCCACCCCC	0.582													T	37791907	C	T	37791907	3	4	165	1	0	0	0	0	1	0	0	0	12368	768	27	1	515	1	PPP1R1B	17	37791907	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	29548356	37791907	43403303	38	11509											
INTS2	57508	broad.mit.edu	37	17	59952385	59952385	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:59952385G>A	uc002izn.3	-	18	2571	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M	INTS2_uc002izm.3_Missense_Mutation_p.T824M	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	832					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGCATTAACCGTCATTACCCA	0.343													A	59952385	G	A	59952385	3	1	165	1	0	0	0	0	1	0	0	0	7778	1145	40	1	1147	1	INTS2	17	59952385	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	22160478	59952385	21242825	39	11510											
TANC2	26115	broad.mit.edu	37	17	61271350	61271350	+	Splice_Site	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:61271350A>G	uc002jal.4	+	4	235	c.212_splice	c.e4-2	p.G71_splice	TANC2_uc010wpe.2_5'Flank	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	71							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCTTGTTACAGGTGATGCTG	0.423													G	61271350	A	G	61271350	5	3	165	1	0	0	0	0	0	0	1	0	15542	202	7	4	224	4	TANC2	17	61271350	Splice_Site	SNP	A	TCGA-19-5952-01A-11D-1696-08	1318965	61271350	19923860	40	11511											
PCYT2	5833	broad.mit.edu	37	17	79864762	79864762	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:79864762G>A	uc002kcf.2	-	6	659	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	PCYT2_uc010wvb.2_Missense_Mutation_p.R152W|PCYT2_uc002kce.2_Missense_Mutation_p.R106W|PCYT2_uc002kch.2_Missense_Mutation_p.R202W|PCYT2_uc002kci.2_Missense_Mutation_p.R143W|PCYT2_uc010wvc.2_Missense_Mutation_p.R106W	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	184	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAGGGGTTCCGCCCACCAGGG	0.622													A	79864762	G	A	79864762	3	1	165	1	0	0	0	0	1	0	0	0	11612	1086	38	1	647	1	PCYT2	17	79864762	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	18593412	79864762	1330448	41	11512											
DSC3	1825	broad.mit.edu	37	18	28605880	28605880	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr18:28605880A>G	uc002kwj.4	-	5	630	c.475_splice	c.e5-1	p.V159_splice	DSC3_uc002kwi.4_Splice_Site_p.V159_splice	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	159	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			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)			ATCAGATTCAACCTAAAAGTA	0.264													G	28605880	A	G	28605880	3	3	165	1	0	0	0	0	1	0	0	0	4767	57	2	4	2293	4	DSC3	18	28605880	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08		28605880	49471368	42	11513											
DSG4	147409	broad.mit.edu	37	18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr18:28991295G>A	uc002kwr.2	+	13	2431	c.2296G>A	c.(2296-2298)Gca>Aca	p.A766T	DSG4_uc002kwq.2_Missense_Mutation_p.A747T	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	747					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A747T(1)|p.A766T(1)		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)			CCTCATggccgcaggggccgc	0.612													A	28991295	G	A	28991295	3	1	165	1	0	0	0	0	1	0	0	0	4779	1087	38	1	2418	1	DSG4	18	28991295	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	385415	28991295	49085953	43	11514											
POLRMT	5442	broad.mit.edu	37	19	618520	618522	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:618520_618522delGGA	uc002lpf.1	-	16	3444_3446	c.3388_3390delTCC	c.(3388-3390)tccdel	p.S1130del		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	1130	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCATCATGTGGGAGGAGTCCAGC	0.66													-	618522	GGA	-	618520	7	5	165	1	0	1	0	1	0	0	0	0	12238	1219	43	0	322	0	POLRMT	19	618520	In_Frame_Del	DEL	GGA	TCGA-19-5952-01A-11D-1696-08		618520	58510463	44	11515											
ZNF681	148213	broad.mit.edu	37	19	23927954	23927954	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:23927954C>T	uc002nrk.4	-	3	540	c.398G>A	c.(397-399)tGt>tAt	p.C133Y	ZNF681_uc002nrl.4_Missense_Mutation_p.C64Y|ZNF681_uc002nrj.4_Missense_Mutation_p.C64Y	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTTGGCAAACATTGGTTAAG	0.313													T	23927954	C	T	23927954	3	4	165	1	0	0	0	0	1	0	0	0	18085	478	17	3	1543	3	ZNF681	19	23927954	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	23309434	23927954	35201029	45	11516											
PRODH2	58510	broad.mit.edu	37	19	36293096	36293096	+	Silent	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:36293096G>A	uc002obx.1	-	9	1441	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	475					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACATACCCAGTGCTAGAGAG	0.577													A	36293096	G	A	36293096	2	1	165	1	0	0	0	0	0	0	0	1	12549	1020	36	3		3	PRODH2	19	36293096	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08	12365142	36293096	22835887	46	11517											
PSG7	5676	broad.mit.edu	37	19	43439731	43439731	+	Silent	SNP	G	G	A	rs140238439	by1000genomes	TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:43439731G>A	uc002ovl.4	-	1	357	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	85	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				TTATTTGACCGTCTACTATAT	0.418													A	43439731	G	A	43439731	2	1	165	1	0	0	0	0	0	0	0	1	12660	1136	40	1		1	PSG7	19	43439731	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08	7146635	43439731	15689252	47	11518											
PVR	5817	broad.mit.edu	37	19	45153193	45153193	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:45153193C>T	uc002ozm.3	+	2	839	c.540C>T	c.(538-540)caC>caT	p.H180H	PVR_uc010ejs.3_Silent_p.H180H|PVR_uc010xxb.2_Silent_p.H180H|PVR_uc010xxc.2_Silent_p.H180H|PVR_uc002ozn.3_Silent_p.H125H	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	180	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCACCTGGCACTCAGACCTGG	0.632													T	45153193	C	T	45153193	2	4	165	1	0	0	0	0	0	0	0	1	12837	564	20	3		3	PVR	19	45153193	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	1713462	45153193	13975790	48	11519											
VSTM1	284415	broad.mit.edu	37	19	54567025	54567025	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:54567025C>T	uc002qcw.4	-	0	183	c.7G>A	c.(7-9)Gca>Aca	p.A3T	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_5'UTR|VSTM1_uc002qcx.4_Missense_Mutation_p.A3T|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.A3T	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	3						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGGAATTCTGCGGTCATAGCG	0.627													T	54567025	C	T	54567025	3	4	165	1	0	0	0	0	1	0	0	0	17225	768	27	1	739	1	VSTM1	19	54567025	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	9413832	54567025	4561958	49	11520											
SLCO4A1	28231	broad.mit.edu	37	20	61297841	61297841	+	Silent	SNP	C	C	T			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr20:61297841C>T	uc002ydb.1	+	6	1591	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	LOC100127888_uc002ydd.3_Non-coding_Transcript|SLCO4A1_uc002yde.1_5'Flank	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	462					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGTTCTGCACCGTTGTCAGCC	0.652													T	61297841	C	T	61297841	2	4	165	1	0	0	0	0	0	0	0	1	14729	639	23	2		2	SLCO4A1	20	61297841	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08		61297841	1727679	50	11521											
OSM	5008	broad.mit.edu	37	22	30660354	30660354	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr22:30660354G>A	uc003ahb.3	-	2	318	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	93					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	p.R93R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGGAAGCCCCGCCTGCCCAGC	0.642													A	30660354	G	A	30660354	3	1	165	1	0	0	0	0	1	0	0	0	11291	1086	38	1	485	1	OSM	22	30660354	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08		30660354	20644212	51	11522											
PADI6	353238	broad.mit.edu	37	1	17708559	17708559	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:17708559G>A	uc001bak.1	+	5	651	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	209					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			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)	AGGAAGAGTCGAAGAAGGCGA	0.522													A	17708559	G	A	17708559	2	1	166	1	0	0	0	0	0	0	0	1	11381	1045	37	2		2	PADI6	1	17708559	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08		17708559	231542062	1	11523											
HP1BP3	50809	broad.mit.edu	37	1	21071371	21071371	+	Silent	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:21071371A>G	uc001bdy.1	-	11	1681	c.1581T>C	c.(1579-1581)ccT>ccC	p.P527P	HP1BP3_uc001bdv.1_Silent_p.P489P|HP1BP3_uc001bdw.1_Silent_p.P527P|HP1BP3_uc010odh.1_Silent_p.P489P|HP1BP3_uc010odf.1_Silent_p.P186P|HP1BP3_uc010odg.1_Silent_p.P375P	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	527	Lys-rich.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CACTGGTTGCAGGCTTCTTTG	0.458													G	21071371	A	G	21071371	2	3	166	1	0	0	0	0	0	0	0	1	7328	175	7	4		4	HP1BP3	1	21071371	Silent	SNP	A	TCGA-19-5953-01B-12D-1845-08	3362812	21071371	228179250	2	11524											
TINAGL1	64129	broad.mit.edu	37	1	32050587	32050587	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:32050587C>T	uc001bta.3	+	6	933	c.807C>T	c.(805-807)ggC>ggT	p.G269G	TINAGL1_uc010ogj.2_Silent_p.G238G|TINAGL1_uc010ogk.1_Silent_p.G269G|TINAGL1_uc021oko.1_Silent_p.G164G	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	269					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		AGCAGCAGGGCTGCCGCGGTG	0.627													T	32050587	C	T	32050587	2	4	166	1	0	0	0	0	0	0	0	1	15919	784	28	3		3	TINAGL1	1	32050587	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	10979216	32050587	217200034	3	11525											
WDR78	79819	broad.mit.edu	37	1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:67301382C>T	uc001dcx.3	-	10	1716	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_uc009waw.3_Missense_Mutation_p.V300I|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	554										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363													T	67301382	C	T	67301382	3	4	166	1	0	0	0	0	1	0	0	0	17325	536	19	1	914	1	WDR78	1	67301382	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	35250795	67301382	181949239	4	11526											
BARHL2	343472	broad.mit.edu	37	1	91182597	91182597	+	Silent	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:91182597A>G	uc001dns.3	-	0	198	c.156T>C	c.(154-156)tgT>tgC	p.C52C		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	52						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAATCTCCGAACAGGGAGATG	0.607													G	91182597	A	G	91182597	2	3	166	1	0	0	0	0	0	0	0	1	1314	41	2	4		4	BARHL2	1	91182597	Silent	SNP	A	TCGA-19-5953-01B-12D-1845-08	23881215	91182597	158068024	5	11527											
HSD3B1	3283	broad.mit.edu	37	1	120056674	120056674	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:120056674C>T	uc001ehv.1	+	3	673	c.528C>T	c.(526-528)aaC>aaT	p.N176N		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	176					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATCTGAAAAACGGCGGCACCC	0.507													T	120056674	C	T	120056674	2	4	166	1	0	0	0	0	0	0	0	1	7390	535	19	1		1	HSD3B1	1	120056674	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	28874077	120056674	129193947	6	11528											
PDE4DIP	9659	broad.mit.edu	37	1	144859794	144859794	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:144859794C>G	uc021ouh.1	-	37	6592	c.6290G>C	c.(6289-6291)aGc>aCc	p.S2097T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S2097T|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1991T|PDE4DIP_uc001elv.4_Missense_Mutation_p.S1104T	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2097					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGGTCAGTGCTGGCTGGGAA	0.577			T	PDGFRB	MPD								G	144859794	C	G	144859794	3	3	166	1	0	0	0	0	1	0	0	0	11643	797	28	5	778	5	PDE4DIP	1	144859794	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	24803120	144859794	104390827	7	11529											
PDE4DIP	9659	broad.mit.edu	37	1	144859988	144859988	+	Silent	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:144859988C>G	uc021ouh.1	-	37	6398	c.6096G>C	c.(6094-6096)ctG>ctC	p.L2032L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L2032L|PDE4DIP_uc001elx.4_Silent_p.L1926L|PDE4DIP_uc001elv.4_Silent_p.L1039L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2032					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACAGGCATCCAGGCTGTAAG	0.527			T	PDGFRB	MPD								G	144859988	C	G	144859988	2	3	166	1	0	0	0	0	0	0	0	1	11643	581	21	5		5	PDE4DIP	1	144859988	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	194	144859988	104390633	8	11530											
ADAMTSL4	54507	broad.mit.edu	37	1	150530495	150530495	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:150530495G>A	uc009wlw.3	+	13	2479	c.2321G>A	c.(2320-2322)cGg>cAg	p.R774Q	ADAMTSL4_uc001euw.3_Missense_Mutation_p.R751Q|ADAMTSL4_uc001eux.3_Missense_Mutation_p.R751Q|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.R712Q|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	751	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGCAGTGCCGGCAGGAATTT	0.706													A	150530495	G	A	150530495	3	1	166	1	0	0	0	0	1	0	0	0	277	1116	39	2	2298	2	ADAMTSL4	1	150530495	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	5670507	150530495	98720126	9	11531											
FCGR3A	2214	broad.mit.edu	37	1	161518335	161518335	+	Silent	SNP	G	G	A	rs145248243		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:161518335G>A	uc001gar.3	-	2	487	c.303C>T	c.(301-303)agC>agT	p.S101S	FCGR3A_uc001gas.3_Silent_p.S100S|FCGR3A_uc001gat.4_Silent_p.S65S|FCGR3A_uc009wuh.3_Silent_p.S64S|FCGR3A_uc009wui.3_Silent_p.S65S	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	65	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	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)	TTGAGATGAGGCTCTCATTGT	0.552													A	161518335	G	A	161518335	2	1	166	1	0	0	0	0	0	0	0	1	5784	1194	42	3		3	FCGR3A	1	161518335	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	10987840	161518335	87732286	10	11532											
GORAB	92344	broad.mit.edu	37	1	170521169	170521169	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:170521169A>G	uc001gha.2	+	4	778	c.751A>G	c.(751-753)Agg>Ggg	p.R251G	GORAB_uc009wvx.2_Missense_Mutation_p.R71G|GORAB_uc001ghb.2_Missense_Mutation_p.R71G|GORAB_uc001ghc.2_Missense_Mutation_p.R71G|GORAB_uc001ghd.2_Missense_Mutation_p.R44G	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	251	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGTTTGACAGGGCTGAAGC	0.398													G	170521169	A	G	170521169	3	3	166	1	0	0	0	0	1	0	0	0	6574	179	7	4	773	4	GORAB	1	170521169	Missense_Mutation	SNP	A	TCGA-19-5953-01B-12D-1845-08	9002834	170521169	78729452	11	11533											
PAPPA2	60676	broad.mit.edu	37	1	176563936	176563936	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:176563936T>C	uc001gkz.3	+	2	2360	c.1196T>C	c.(1195-1197)tTc>tCc	p.F399S	PAPPA2_uc001gky.1_Missense_Mutation_p.F399S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	399					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACAGCCCCTTCATGGCATCT	0.592													C	176563936	T	C	176563936	3	2	166	1	0	0	0	0	1	0	0	0	11433	1783	62	4	1202	4	PAPPA2	1	176563936	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08	6042767	176563936	72686685	12	11534											
ANGPTL1	9068	broad.mit.edu	37	1	178822880	178822880	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:178822880G>A	uc001gma.3	-	3	1342	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.S289L|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S211L	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	289	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CCCACTGACCGAATGCCCAGC	0.373													A	178822880	G	A	178822880	3	1	166	1	0	0	0	0	1	0	0	0	613	1059	37	2	621	2	ANGPTL1	1	178822880	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	2258944	178822880	70427741	13	11535											
KIAA1614	57710	broad.mit.edu	37	1	180914469	180914469	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:180914469C>T	uc001gok.2	+	8	3385	c.3318C>T	c.(3316-3318)ctC>ctT	p.L1106L	KIAA1614_uc001gol.1_Silent_p.L727L|KIAA1614_uc001gom.1_Silent_p.L197L|STX6_uc009wxo.1_Non-coding_Transcript	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	1106										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCGTGCCCTCAGTGTGGAGG	0.662													T	180914469	C	T	180914469	2	4	166	1	0	0	0	0	0	0	0	1	8248	813	29	3		3	KIAA1614	1	180914469	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	2091589	180914469	68336152	14	11536											
LAMB3	3914	broad.mit.edu	37	1	209796522	209796522	+	Silent	SNP	G	G	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:209796522G>T	uc001hhg.3	-	15	2751	c.2361C>A	c.(2359-2361)ctC>ctA	p.L787L	LAMB3_uc009xco.3_Silent_p.L787L|LAMB3_uc001hhh.3_Silent_p.L787L|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	787	Domain alpha.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTTGCCACAGAGCTGTGGAC	0.572													T	209796522	G	T	209796522	2	4	166	1	0	0	0	0	0	0	0	1	8612	929	33	5		5	LAMB3	1	209796522	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	28882053	209796522	39454099	15	11537											
TRIM58	25893	broad.mit.edu	37	1	248039229	248039229	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:248039229C>T	uc001ido.3	+	5	947	c.899C>T	c.(898-900)gCg>gTg	p.A300V	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	300	B30.2/SPRY.					intracellular	zinc ion binding	p.T299T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCGCCACGGCGCACCCGAGT	0.552													T	248039229	C	T	248039229	3	4	166	1	0	0	0	0	1	0	0	0	16528	768	27	1	921	1	TRIM58	1	248039229	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	38242707	248039229	1211392	16	11538											
APOB	338	broad.mit.edu	37	2	21232448	21232448	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:21232448T>C	uc002red.3	-	25	7420	c.7292A>G	c.(7291-7293)gAt>gGt	p.D2431G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2431					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGTGGTAATCAAATGACTT	0.343													C	21232448	T	C	21232448	3	2	166	1	0	0	0	0	1	0	0	0	785	1435	50	4	6415	4	APOB	2	21232448	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08		21232448	221966925	17	11539											
SLC9A4	389015	broad.mit.edu	37	2	103141556	103141556	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:103141556G>A	uc002tbz.4	+	9	2349	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	631					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCCGCCGCCAGAACACC	0.507													A	103141556	G	A	103141556	3	1	166	1	0	0	0	0	1	0	0	0	14716	1087	38	1	1930	1	SLC9A4	2	103141556	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	81909108	103141556	140057817	18	11540											
EEFSEC	60678	broad.mit.edu	37	3	127981028	127981028	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr3:127981028C>T	uc003eki.3	+	2	620	c.582C>T	c.(580-582)ccC>ccT	p.P194P		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	194						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CAGAGGCCCCCGAAACTGAAG	0.562													T	127981028	C	T	127981028	2	4	166	1	0	0	0	0	0	0	0	1	4931	639	23	2		2	EEFSEC	3	127981028	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08		127981028	70041402	19	11541											
INTU	27152	broad.mit.edu	37	4	128564761	128564761	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr4:128564761C>G	uc003ifk.2	+	1	335	c.232C>G	c.(232-234)Ctc>Gtc	p.L78V	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	78										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGAAGAAAGCCTCCTTCCTGA	0.393													G	128564761	C	G	128564761	3	3	166	1	0	0	0	0	1	0	0	0	7786	681	24	5	238	5	INTU	4	128564761	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		128564761	62589515	20	11542											
ELOVL7	79993	broad.mit.edu	37	5	60060144	60060144	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:60060144G>A	uc003jsi.4	-	6	609	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	ELOVL7_uc011cqo.2_Missense_Mutation_p.R50C|ELOVL7_uc010iwk.3_Missense_Mutation_p.R137C|ELOVL7_uc003jsj.4_Missense_Mutation_p.R124C	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	137					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated 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			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TTTTTCTTGCGCAGAACAAAA	0.348													A	60060144	G	A	60060144	3	1	166	1	0	0	0	0	1	0	0	0	5079	1087	38	1	448	1	ELOVL7	5	60060144	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		60060144	120855116	21	11543											
PCDHGC5	56112	broad.mit.edu	37	5	140725076	140725076	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:140725076C>T	uc003ljm.2	+	0	1476	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.T492T	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	494	Cadherin 5.				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)			ATGCATTGACCGAGGACACTC	0.542													T	140725076	C	T	140725076	2	4	166	1	0	0	0	0	0	0	0	1	11571	639	23	2		2	PCDHGC5	5	140725076	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	80664932	140725076	40190184	22	11544											
PCDHGC5	56109	broad.mit.edu	37	5	140755737	140755737	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:140755737C>T	uc003ljy.2	+	0	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	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_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.A696V	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	697					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I695N(1)		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)			CTGGTGGTGGCGGTGGCCGCG	0.672													T	140755737	C	T	140755737	3	4	166	1	0	0	0	0	1	0	0	0	11571	768	27	1		1	PCDHGC5	5	140755737	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	30661	140755737	40159523	23	11545											
FAT2	2196	broad.mit.edu	37	5	150942915	150942915	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:150942915A>G	uc003lue.4	-	1	3558	c.3545T>C	c.(3544-3546)aTg>aCg	p.M1182T	FAT2_uc010jhx.1_Missense_Mutation_p.M1182T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1182	Cadherin 10.				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)			AAAGAATCCCATGTAGTTCCC	0.512													G	150942915	A	G	150942915	3	3	166	1	0	0	0	0	1	0	0	0	5690	217	8	4	9592	4	FAT2	5	150942915	Missense_Mutation	SNP	A	TCGA-19-5953-01B-12D-1845-08	10187178	150942915	29972345	24	11546											
LARP1	23367	broad.mit.edu	37	5	154135677	154135677	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:154135677C>T	uc003lvo.3	+						LARP1_uc021ygh.1_Intron|LARP1_uc021ygi.1_Silent_p.P120P|LARP1_uc010jie.1_5'Flank	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.								protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGAAGCCCCCCCGCCCAAGG	0.736													T	154135677	C	T	154135677	2	4	166	1	0	0	0	0	0	0	0	1	8628	638	22	3		3	LARP1	5	154135677	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	3192762	154135677	26779583	25	11547											
GPR116	221395	broad.mit.edu	37	6	46826522	46826522	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:46826522A>T	uc003oyo.3	-	16	3407	c.3118T>A	c.(3118-3120)Tcg>Acg	p.S1040T	GPR116_uc011dwj.1_Missense_Mutation_p.S595T|GPR116_uc011dwk.1_Missense_Mutation_p.S469T|GPR116_uc003oyp.3_Missense_Mutation_p.S898T|GPR116_uc003oyq.3_Missense_Mutation_p.S1040T|GPR116_uc010jzi.1_Missense_Mutation_p.S712T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1040					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGGTCACCGATTTCCACACC	0.507													T	46826522	A	T	46826522	3	4	166	1	0	0	0	0	1	0	0	0	6633	333	12	5	942	5	GPR116	6	46826522	Missense_Mutation	SNP	A	TCGA-19-5953-01B-12D-1845-08		46826522	124288545	26	11548											
MANEA	79694	broad.mit.edu	37	6	96054014	96054014	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:96054014G>A	uc003poo.2	+	4	1302	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	374	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AAAACACTCGGAACCGAATCA	0.408													A	96054014	G	A	96054014	2	1	166	1	0	0	0	0	0	0	0	1	9221	1161	41	3		3	MANEA	6	96054014	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	49227492	96054014	75061053	27	11549											
SLC22A16	85413	broad.mit.edu	37	6	110768146	110768146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:110768146delA	uc003puf.3	-	2	648	c.581delT	c.(580-582)ttgfs	p.L194fs	SLC22A16_uc003pue.3_Frame_Shift_Del_p.L175fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	194					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TATTCCAAACAAAAACATGCT	0.433													-	110768146	A	-	110768146	7	5	166	1	0	1	0	1	0	0	0	0	14447	131	5	0	1176	0	SLC22A16	6	110768146	Frame_Shift_Del	DEL	A	TCGA-19-5953-01B-12D-1845-08	14714132	110768146	60346921	28	11550											
OLIG3	167826	broad.mit.edu	37	6	137815222	137815222	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:137815222T>C	uc003qhp.1	-	0	310	c.86A>G	c.(85-87)cAc>cGc	p.H29R		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	29	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		gtggtggtggtggcggtggtg	0.577													C	137815222	T	C	137815222	3	2	166	1	0	0	0	0	1	0	0	0	10862	1696	59	4	736	4	OLIG3	6	137815222	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08	27047076	137815222	33299845	29	11551											
REPS1	85021	broad.mit.edu	37	6	139266737	139266737	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:139266737C>T	uc003qii.3	-	2	954	c.375G>A	c.(373-375)tcG>tcA	p.S125S	REPS1_uc003qig.4_Silent_p.S125S|REPS1_uc011edr.2_Silent_p.S125S|REPS1_uc003qij.3_Silent_p.S125S|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	125						coated pit|plasma membrane	calcium ion binding|SH3 domain binding	p.H124N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CACCAGAATACGACCCTTGAT	0.483													T	139266737	C	T	139266737	2	4	166	1	0	0	0	0	0	0	0	1	13228	523	19	1		1	REPS1	6	139266737	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	1451515	139266737	31848330	30	11552											
PCLO	27445	broad.mit.edu	37	7	82580167	82580167	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:82580167C>T	uc003uhx.2	-	5	10026	c.9737G>A	c.(9736-9738)cGa>cAa	p.R3246Q	PCLO_uc003uhv.2_Missense_Mutation_p.R3246Q|PCLO_uc010lec.3_Missense_Mutation_p.R211Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3177	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3246L(3)|p.R3246R(1)|p.R3177L(1)		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						TTCTTGTTCTCGGAACCTTTG	0.473													T	82580167	C	T	82580167	3	4	166	1	0	0	0	0	1	0	0	0	11583	884	31	2	5788	2	PCLO	7	82580167	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		82580167	76558496	31	11553											
ABCB1	5243	broad.mit.edu	37	7	87174224	87174224	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:87174224G>C	uc003uiz.2	-	16	2472	c.1979C>G	c.(1978-1980)tCc>tGc	p.S660C	ABCB1_uc011khc.2_Missense_Mutation_p.S596C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	660					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TATTAGACTGGATCTTGAATC	0.388													C	87174224	G	C	87174224	3	2	166	1	0	0	0	0	1	0	0	0	40	1174	41	5	1915	5	ABCB1	7	87174224	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	4594057	87174224	71964439	32	11554											
COL1A2	1278	broad.mit.edu	37	7	94039107	94039107	+	Missense_Mutation	SNP	G	G	A	rs67865220		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:94039107G>A	uc003ung.1	+	18	1480	c.1009G>A	c.(1009-1011)Ggt>Agt	p.G337S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	337			G -> C (in OI3).|G -> S (in OI3).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGCTGCCGGTGCTACTGG	0.557										HNSCC(75;0.22)			A	94039107	G	A	94039107	3	1	166	1	0	0	0	0	1	0	0	0	3678	1116	39	2	1083	2	COL1A2	7	94039107	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	6864883	94039107	65099556	33	11555											
C7orf43	55262	broad.mit.edu	37	7	99753440	99753440	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:99753440G>A	uc003utr.3	-	8	1429	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	C7orf43_uc010lgo.3_Silent_p.L43L|C7orf43_uc010lgp.3_Silent_p.L39L|C7orf43_uc011kjj.2_Silent_p.L185L|C7orf43_uc003uts.3_Silent_p.L148L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.	417										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCACACAGCTGCTTTCCT	0.612													A	99753440	G	A	99753440	2	1	166	1	0	0	0	0	0	0	0	1	2393	962	34	3		3	C7orf43	7	99753440	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	5714333	99753440	59385223	34	11556											
ZCWPW1	55063	broad.mit.edu	37	7	99998739	99998739	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:99998739C>T	uc003uut.3	-	17	2093	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	ZCWPW1_uc011kjq.2_Silent_p.E495E|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Silent_p.E444E|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	615							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATGAGTTGCTCCAGGTCCA	0.612													T	99998739	C	T	99998739	2	4	166	1	0	0	0	0	0	0	0	1	17594	796	28	3		3	ZCWPW1	7	99998739	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	245299	99998739	59139924	35	11557											
MUC17	140453	broad.mit.edu	37	7	100677675	100677675	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:100677675C>T	uc003uxp.1	+	2	3031	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	993	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					GTCAGCCACACGCTGGTGGCC	0.512													T	100677675	C	T	100677675	3	4	166	1	0	0	0	0	1	0	0	0	9974	536	19	1	2988	1	MUC17	7	100677675	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	678936	100677675	58460988	36	11558											
OR2A25	392138	broad.mit.edu	37	7	143772171	143772171	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:143772171C>T	uc011ktx.2	+	0	859	c.859C>T	c.(859-861)Cta>Tta	p.L287L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCTTAATCCCCTAATTTATAG	0.413													T	143772171	C	T	143772171	2	4	166	1	0	0	0	0	0	0	0	1	10978	680	24	3		3	OR2A25	7	143772171	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	43094496	143772171	15366492	37	11559											
FAM83H	286077	broad.mit.edu	37	8	144808270	144808270	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr8:144808270G>A	uc003yzk.3	-	4	3430	c.3361C>T	c.(3361-3363)Cgc>Tgc	p.R1121C		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1121					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCATGCGGCGCAGCAGCCGA	0.677													A	144808270	G	A	144808270	3	1	166	1	0	0	0	0	1	0	0	0	5640	1087	38	1	182	1	FAM83H	8	144808270	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		144808270	1555752	38	11560											
TAF1L	138474	broad.mit.edu	37	9	32633525	32633525	+	Missense_Mutation	SNP	G	G	A	rs147409173		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr9:32633525G>A	uc003zrg.1	-	0	2143	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	685					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.R685C(2)|p.R685L(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)		TGAGGTGTGCGCATAAAAAAC	0.448													A	32633525	G	A	32633525	3	1	166	1	0	0	0	0	1	0	0	0	15520	1087	38	1	3431	1	TAF1L	9	32633525	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		32633525	108579906	39	11561											
STRBP	55342	broad.mit.edu	37	9	125909182	125909182	+	Silent	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr9:125909182T>C	uc004bns.3	-	12	1732	c.1290A>G	c.(1288-1290)gaA>gaG	p.E430E	STRBP_uc004bnt.3_Silent_p.E248E|STRBP_uc004bnu.3_Silent_p.E416E|STRBP_uc004bnv.3_Silent_p.E430E	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	430	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GTCCTGAGGCTTCATATGTTG	0.433													C	125909182	T	C	125909182	2	2	166	1	0	0	0	0	0	0	0	1	15326	1606	56	4		4	STRBP	9	125909182	Silent	SNP	T	TCGA-19-5953-01B-12D-1845-08	93275657	125909182	15304249	40	11562											
PTEN	5728	broad.mit.edu	37	10	89692893	89692893	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr10:89692893C>T	uc001kfb.3	+	4	1409	c.377C>T	c.(376-378)gCt>gTt	p.A126V	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	126	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.A126D(6)|p.A126T(6)|p.?(5)|p.R55fs*1(5)|p.A126V(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.K125N(2)|p.A126S(2)|p.A126P(2)|p.K125E(2)|p.Y27_N212>Y(2)|p.A126fs*8(1)|p.K125*(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACTGTAAAGCTGGAAAGGGA	0.408		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692893	C	T	89692893	3	4	166	1	0	0	0	0	1	0	0	0	12738	797	28	3	395	3	PTEN	10	89692893	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		89692893	45841854	41	11563											
PDE3B	5140	broad.mit.edu	37	11	14839801	14839801	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:14839801G>A	uc001mln.3	+	5	1948	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	PDE3B_uc010rcr.2_Missense_Mutation_p.R481Q	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	532					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	p.R532Q(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTAACTAATCGATCACCCATA	0.388													A	14839801	G	A	14839801	3	1	166	1	0	0	0	0	1	0	0	0	11638	1058	37	2	1617	2	PDE3B	11	14839801	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		14839801	120166715	42	11564											
OR5T3	390154	broad.mit.edu	37	11	56020021	56020021	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:56020021C>T	uc010rjd.2	+	0	346	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F115F(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)					GGTCAATTTCCTGGCAAAAAA	0.368													T	56020021	C	T	56020021	2	4	166	1	0	0	0	0	0	0	0	1	11183	680	24	3		3	OR5T3	11	56020021	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	41180220	56020021	78986495	43	11565											
SHANK2	22941	broad.mit.edu	37	11	70319235	70319235	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:70319235C>T	uc001oqc.3	-	21	5203	c.5091G>A	c.(5089-5091)tcG>tcA	p.S1697S	SHANK2_uc010rqn.2_Silent_p.S1173S|SHANK2_uc001opz.3_Silent_p.S1168S|BC127192_uc009ysn.1_Silent_p.G45G|SHANK2_uc001opy.3_Silent_p.S99S|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1384					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGGGGATGGCGACCTACTGC	0.537													T	70319235	C	T	70319235	2	4	166	1	0	0	0	0	0	0	0	1	14265	755	27	1		1	SHANK2	11	70319235	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	14299214	70319235	64687281	44	11566											
KRTAP5-10	387273	broad.mit.edu	37	11	71276821	71276910	+	In_Frame_Del	DEL	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	-	rs71473841	by1000genomes	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:71276821_71276910delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	uc001oqt.1	+	0	213_302	c.188_277delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	c.(187-279)agctgtggctcctgtgggggctccaagggggactgtggctcttgtgggggctccaaagggggctgtggttcctgtgggggctccaaggggggc>agc	p.CGSCGGSKGDCGSCGGSKGGCGSCGGSKGG64del		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	64	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G69C(2)|p.K81K(2)|p.G65S(2)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCTGCTCCAGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGGGCTGTGGCTC	0.676													-	71276910	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	-	71276821	7	5	166	1	0	1	0	1	0	0	0	0	8559	971	34	0	190	0	KRTAP5-10	11	71276821	In_Frame_Del	DEL	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	TCGA-19-5953-01B-12D-1845-08	957586	71276821	63729695	45	11567											
SLCO2B1	11309	broad.mit.edu	37	11	74876887	74876887	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:74876887G>A	uc001owb.3	+	3	736	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_5'UTR|SLCO2B1_uc001owc.3_5'UTR|SLCO2B1_uc001owd.3_Missense_Mutation_p.R92Q	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	114					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CGGGTGCACCGACCCCGAATG	0.572													A	74876887	G	A	74876887	3	1	166	1	0	0	0	0	1	0	0	0	14727	1058	37	2	355	2	SLCO2B1	11	74876887	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	3600066	74876887	60129629	46	11568											
DRD2	1813	broad.mit.edu	37	11	113286210	113286210	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:113286210C>T	uc001pnz.3	-	3	977	c.656G>A	c.(655-657)cGc>cAc	p.R219H	DRD2_uc010rwv.2_Missense_Mutation_p.R218H|DRD2_uc001poa.4_Missense_Mutation_p.R219H|DRD2_uc001pob.4_Missense_Mutation_p.R219H|DRD2_uc009yyr.1_Missense_Mutation_p.R219H	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	219	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.R219C(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)	TCGCTTGCGGCGTCTGCGGAG	0.572													T	113286210	C	T	113286210	3	4	166	1	0	0	0	0	1	0	0	0	4757	768	27	1	691	1	DRD2	11	113286210	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	38409323	113286210	21720306	47	11569											
GDF3	9573	broad.mit.edu	37	12	7842975	7842975	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:7842975G>A	uc001qte.3	-	1	630	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	198					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAATAACCCGAAATTTTTCC	0.473													A	7842975	G	A	7842975	2	1	166	1	0	0	0	0	0	0	0	1	6315	1049	37	2		2	GDF3	12	7842975	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08		7842975	126008920	48	11570											
ERP27	121506	broad.mit.edu	37	12	15070213	15070213	+	Missense_Mutation	SNP	C	C	T	rs139573344	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:15070213C>T	uc001rco.3	-	4	496	c.475G>A	c.(475-477)Gta>Ata	p.V159I		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	159						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ATCTGAATTACGCTGTTGAAT	0.453													T	15070213	C	T	15070213	3	4	166	1	0	0	0	0	1	0	0	0	5241	536	19	1	358	1	ERP27	12	15070213	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	7227238	15070213	118781682	49	11571											
CPSF6	11052	broad.mit.edu	37	12	69645041	69645041	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:69645041G>C	uc001sut.4	+	1	303	c.193G>C	c.(193-195)Ggt>Cgt	p.G65R	CPSF6_uc001suu.4_Missense_Mutation_p.G65R	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	65					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGATGATGTGGGTAAAGGAGC	0.378													C	69645041	G	C	69645041	3	2	166	1	0	0	0	0	1	0	0	0	3829	1232	43	5	199	5	CPSF6	12	69645041	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	54574828	69645041	64206854	50	11572											
KIAA1033	23325	broad.mit.edu	37	12	105514968	105514968	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:105514968G>T	uc010swr.2	+	8	738	c.651G>T	c.(649-651)tgG>tgT	p.W217C	KIAA1033_uc001tld.3_Missense_Mutation_p.W217C|KIAA1033_uc010sws.2_Missense_Mutation_p.W29C	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	217					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAGACCACTGGACTATGTACA	0.299													T	105514968	G	T	105514968	3	4	166	1	0	0	0	0	1	0	0	0	8206	1183	41	5	685	5	KIAA1033	12	105514968	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	35869927	105514968	28336927	51	11573											
WSCD2	9671	broad.mit.edu	37	12	108603905	108603905	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:108603905C>A	uc001tms.3	+	3	1249	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	WSCD2_uc001tmt.3_Missense_Mutation_p.L169M	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	169	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAGGGGTTACCTGTATGGCGG	0.647													A	108603905	C	A	108603905	3	1	166	1	0	0	0	0	1	0	0	0	17404	680	24	5	515	5	WSCD2	12	108603905	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	3088937	108603905	25247990	52	11574											
TMEM132D	121256	broad.mit.edu	37	12	129563144	129563144	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:129563144G>A	uc009zyl.1	-	7	2378	c.2050C>T	c.(2050-2052)Cca>Tca	p.P684S	TMEM132D_uc001uia.2_Missense_Mutation_p.P222S	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	684						integral to membrane		p.P684A(2)		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)		TTGCTTCCTGGGCTGAGCTGC	0.577													A	129563144	G	A	129563144	3	1	166	1	0	0	0	0	1	0	0	0	16044	1232	43	3	1257	3	TMEM132D	12	129563144	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	20959239	129563144	4288751	53	11575											
ANKLE2	23141	broad.mit.edu	37	12	133306704	133306704	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:133306704C>G	uc001ukx.2	-	10	2111	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q	ANKLE2_uc009zyw.1_Missense_Mutation_p.E37Q	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	682						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGGTCTGCCTCCTGCTCCAAG	0.572													G	133306704	C	G	133306704	3	3	166	1	0	0	0	0	1	0	0	0	633	864	30	5	784	5	ANKLE2	12	133306704	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	3743560	133306704	545191	54	11576											
SLC39A2	29986	broad.mit.edu	37	14	21469493	21469493	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr14:21469493C>T	uc001vyr.3	+	3	877	c.685C>T	c.(685-687)Cta>Tta	p.L229L	SLC39A2_uc001vys.3_Silent_p.L130L	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	229						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GTTCTCCATACTATTATTAGC	0.567													T	21469493	C	T	21469493	2	4	166	1	0	0	0	0	0	0	0	1	14618	564	20	3		3	SLC39A2	14	21469493	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08		21469493	85880047	55	11577											
C15orf2	23742	broad.mit.edu	37	15	24921103	24921103	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:24921103G>A	uc001ywo.3	+	0	563	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	30					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCCCTGTCCCGGGACGCCTCC	0.706													A	24921103	G	A	24921103	3	1	166	1	0	0	0	0	1	0	0	0	1784	1116	39	2	91	2	C15orf2	15	24921103	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		24921103	77610289	56	11578											
CHRNB4	1143	broad.mit.edu	37	15	78917630	78917630	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:78917630C>T	uc002bed.1	-	5	1454	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	CHRNB4_uc002bee.1_Silent_p.S121S|AX748237_uc002bef.1_5'Flank	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	448					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CAGTCCTCAACGACCTGCAGG	0.607													T	78917630	C	T	78917630	3	4	166	1	0	0	0	0	1	0	0	0	3393	536	19	1	158	1	CHRNB4	15	78917630	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	53996527	78917630	23613762	57	11579											
CHRNB4	1143	broad.mit.edu	37	15	78922161	78922161	+	Silent	SNP	G	G	A	rs80249872		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:78922161G>A	uc002bed.1	-	4	598	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	162					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCTGCTGGTCGAAGGGAAAGT	0.552													A	78922161	G	A	78922161	2	1	166	1	0	0	0	0	0	0	0	1	3393	1049	37	2		2	CHRNB4	15	78922161	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	4531	78922161	23609231	58	11580											
SEPT12	124404	broad.mit.edu	37	16	4833669	4833669	+	Missense_Mutation	SNP	C	C	T	rs140969211		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:4833669C>T	uc002cxq.3	-	5	875	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	SEPT12_uc002cxr.3_Missense_Mutation_p.R158Q|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	204					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GAAGGCCTCTCGCTCCTCCAT	0.677													T	4833669	C	T	4833669	3	4	166	1	0	0	0	0	1	0	0	0	14062	884	31	2	485	2	SEPT12	16	4833669	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		4833669	85521084	59	11581											
ITGAD	3681	broad.mit.edu	37	16	31435264	31435264	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:31435264C>T	uc010cap.1	+	26	3196	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	ITGAD_uc002ebv.1_Silent_p.F1048F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	1048					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			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						ATCTCAGTTTCGGCTGGGTCC	0.642													T	31435264	C	T	31435264	2	4	166	1	0	0	0	0	0	0	0	1	7884	883	31	2		2	ITGAD	16	31435264	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	26601595	31435264	58919489	60	11582											
C16orf78	123970	broad.mit.edu	37	16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	rs144505396	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:49407930G>A	uc002efr.3	+	0	123	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	27										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512													A	49407930	G	A	49407930	3	1	166	1	0	0	0	0	1	0	0	0	1835	1087	38	1	82	1	C16orf78	16	49407930	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	17972666	49407930	40946823	61	11583											
NF1	4763	broad.mit.edu	37	17	29588751	29588751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:29588751C>T	uc002hgg.3	+	34	4983	c.4600C>T	c.(4600-4602)Cga>Tga	p.R1534*	NF1_uc002hgh.3_Nonsense_Mutation_p.R1513*|NF1_uc002hgi.1_Nonsense_Mutation_p.R546*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1534					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R1534*(6)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGTTGGAAGACGACCTTTTGA	0.413			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29588751	C	T	29588751	4	4	166	1	0	0	0	0	0	1	0	0	10356	528	19	1	4799	1	NF1	17	29588751	Nonsense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		29588751	51606459	62	11584											
KRT25	147183	broad.mit.edu	37	17	38904633	38904633	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:38904633C>T	uc002hve.3	-	7	1310	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	417	Tail.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ATGGCTTTGGCTGGGTCTGAG	0.348													T	38904633	C	T	38904633	3	4	166	1	0	0	0	0	1	0	0	0	8462	797	28	3	107	3	KRT25	17	38904633	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	9315882	38904633	42290577	63	11585											
RAD51C	5889	broad.mit.edu	37	17	56809897	56809897	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:56809897C>G	uc002iwu.3	+	7	1060	c.1018C>G	c.(1018-1020)Caa>Gaa	p.Q340E	RAD51C_uc010woa.1_Missense_Mutation_p.Q340E|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	340					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.Q340K(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTACTGTTTCAAATCAAAGT	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				G	56809897	C	G	56809897	3	3	166	1	0	0	0	0	1	0	0	0	12988	827	29	5	1052	5	RAD51C	17	56809897	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	17905264	56809897	24385313	64	11586											
BAHCC1	57597	broad.mit.edu	37	17	79412126	79412126	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:79412126C>T	uc002kaf.2	+	7	2571	c.2571C>T	c.(2569-2571)ctC>ctT	p.L857L	BAHCC1_uc002kae.2_Silent_p.L118L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	919	Pro-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CGGGCCAGCTCCCTGTGTACT	0.697													T	79412126	C	T	79412126	2	4	166	1	0	0	0	0	0	0	0	1	1296	842	30	3		3	BAHCC1	17	79412126	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	22602229	79412126	1783084	65	11587											
LAMA1	284217	broad.mit.edu	37	18	7011448	7011448	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:7011448G>A	uc002knm.3	-	24	3632	c.3538C>T	c.(3538-3540)Cgt>Tgt	p.R1180C	LAMA1_uc010wzj.2_Missense_Mutation_p.R656C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1180	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAACCACACGCAGAAGAGGC	0.552													A	7011448	G	A	7011448	3	1	166	1	0	0	0	0	1	0	0	0	8605	1087	38	1	5845	1	LAMA1	18	7011448	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		7011448	71065800	66	11588											
MIB1	57534	broad.mit.edu	37	18	19358097	19358097	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:19358097G>A	uc002ktq.3	+	4	670	c.670G>A	c.(670-672)Ggt>Agt	p.G224S	MIB1_uc002ktp.3_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	224					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCCAAGGGAGGTTCTTTCTA	0.403													A	19358097	G	A	19358097	3	1	166	1	0	0	0	0	1	0	0	0	9566	1000	35	3	688	3	MIB1	18	19358097	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	12346649	19358097	58719151	67	11589											
DSG3	1830	broad.mit.edu	37	18	29039054	29039054	+	Missense_Mutation	SNP	C	C	T	rs62095186		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:29039054C>T	uc002kws.3	+	4	540	c.431C>T	c.(430-432)aCg>aTg	p.T144M		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	144	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTATACTAACGGTTAAAATT	0.358													T	29039054	C	T	29039054	3	4	166	1	0	0	0	0	1	0	0	0	4778	536	19	1	449	1	DSG3	18	29039054	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	9680957	29039054	49038194	68	11590											
RPSA	388524	broad.mit.edu	37	19	24010322	24010322	+	Missense_Mutation	SNP	G	G	A	rs13343419	by1000genomes	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr19:24010322G>A	uc002nrn.3	+	3	782	c.359G>A	c.(358-360)cGg>cAg	p.R120Q		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	120					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TGGGAGCCACGGCTTCTTGTG	0.552													A	24010322	G	A	24010322	3	1	166	1	0	0	0	0	1	0	0	0	13663	1131	39	2		2	RPSA	19	24010322	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		24010322	35118661	69	11591											
COL6A1	1291	broad.mit.edu	37	21	47423347	47423347	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr21:47423347G>A	uc002zhu.1	+	34	2609	c.2507G>A	c.(2506-2508)gGc>gAc	p.G836D	COL6A1_uc002zhv.1_Missense_Mutation_p.G167D	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	836	C-terminal globular domain.|VWFA 3.			DGSAS -> EPPPD (in Ref. 1; CAA33889).	axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CTGCTGGACGGCTCCGCCAGC	0.692													A	47423347	G	A	47423347	3	1	166	1	0	0	0	0	1	0	0	0	3699	1203	42	3	2645	3	COL6A1	21	47423347	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		47423347	706548	70	11592											
SLC5A4	6527	broad.mit.edu	37	22	32628993	32628993	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr22:32628993T>G	uc003ami.3	-	8	916	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	305					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGACATGTCCTTGCCACACAG	0.557													G	32628993	T	G	32628993	3	3	166	1	0	0	0	0	1	0	0	0	14667	1609	56	5	1093	5	SLC5A4	22	32628993	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08		32628993	18675573	71	11593											
FAM47A	158724	broad.mit.edu	37	X	34150044	34150044	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chrX:34150044C>T	uc004ddg.3	-	0	404	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	118								p.V118I(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTTGCTCTACGAACGCCTTC	0.547													T	34150044	C	T	34150044	3	4	166	1	0	0	0	0	1	0	0	0	5569	536	19	1	2027	1	FAM47A	23	34150044	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		34150044	121120516	72	11594											
ZNF711	7552	broad.mit.edu	37	X	84526085	84526085	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chrX:84526085G>A	uc004eeq.3	+	9	2561	c.1675G>A	c.(1675-1677)Ggt>Agt	p.G559S	ZNF711_uc004eep.3_Missense_Mutation_p.G513S|ZNF711_uc004eeo.3_Missense_Mutation_p.G513S|ZNF711_uc011mqy.1_Missense_Mutation_p.G112S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	513					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTGTGGGAAGGGTTTTCGACA	0.413													A	84526085	G	A	84526085	3	1	166	1	0	0	0	0	1	0	0	0	18113	1232	43	3	1563	3	ZNF711	23	84526085	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	50376041	84526085	70744475	73	11595											
GABRD	2563	broad.mit.edu	37	1	1961508	1961508	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:1961508C>T	uc001aip.2	+	8	1241	c.1146C>T	c.(1144-1146)cgC>cgT	p.R382R		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	382						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGCAGCGCCGCGTCCCGGGGA	0.692													T	1961508	C	T	1961508	2	4	167	1	0	0	0	0	0	0	0	1	6169	755	27	1		1	GABRD	1	1961508	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08		1961508	247289113	1	11596											
DNAJC11	55735	broad.mit.edu	37	1	6704720	6704720	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:6704720C>T	uc001aof.2	-	9	1101	c.995G>A	c.(994-996)gGg>gAg	p.G332E	DNAJC11_uc001aog.2_Missense_Mutation_p.G332E|DNAJC11_uc010nzu.1_Missense_Mutation_p.G242E	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	332					protein folding		heat shock protein binding|unfolded protein binding			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)		CACCACCGTCCCAAAGAAGCC	0.562													T	6704720	C	T	6704720	3	4	167	1	0	0	0	0	1	0	0	0	4630	623	22	3	712	3	DNAJC11	1	6704720	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	4743212	6704720	242545901	2	11597											
TNFRSF9	3604	broad.mit.edu	37	1	7998781	7998781	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:7998781C>A	uc001aot.3	-	4	469	c.208_splice	c.e4+1	p.G70_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	70					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398													A	7998781	C	A	7998781	3	1	167	1	0	0	0	0	1	0	0	0	16297	695	24	5	583	5	TNFRSF9	1	7998781	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	1294061	7998781	241251840	3	11598											
FBLIM1	54751	broad.mit.edu	37	1	16095074	16095074	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:16095074G>A	uc001axd.1	+	5	933	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	FBLIM1_uc001axe.1_Missense_Mutation_p.E164K|FBLIM1_uc001axg.1_Missense_Mutation_p.E164K|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	164	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCCATGGAGGAAGAGCTGCC	0.652													A	16095074	G	A	16095074	3	1	167	1	0	0	0	0	1	0	0	0	5697	1175	41	3	500	3	FBLIM1	1	16095074	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	8096293	16095074	233155547	4	11599											
C1orf38	9473	broad.mit.edu	37	1	28208484	28208484	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:28208484C>T	uc001bpc.4	+	3	677	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Intron|C1orf38_uc010ofo.2_Missense_Mutation_p.R217C	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	217	CABIT 1.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCACAGTGCGCAGGACCAT	0.652													T	28208484	C	T	28208484	3	4	167	1	0	0	0	0	1	0	0	0	2039	768	27	1	663	1	C1orf38	1	28208484	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	12113410	28208484	221042137	5	11600											
FLG	2312	broad.mit.edu	37	1	152276552	152276552	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:152276552C>T	uc001ezu.1	-	2	10846	c.10810G>A	c.(10810-10812)Gag>Aag	p.E3604K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3604	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GAGGAATTCTCTGCATGATGA	0.562									Ichthyosis				T	152276552	C	T	152276552	3	4	167	1	0	0	0	0	1	0	0	0	5922	922	32	3	1379	3	FLG	1	152276552	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	124068068	152276552	96974069	6	11601											
FLG	2312	broad.mit.edu	37	1	152280440	152280440	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:152280440C>T	uc001ezu.1	-	2	6958	c.6922G>A	c.(6922-6924)Gag>Aag	p.E2308K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2308	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GAGGAATTCTCTGCATGATGA	0.562									Ichthyosis				T	152280440	C	T	152280440	3	4	167	1	0	0	0	0	1	0	0	0	5922	922	32	3	5267	3	FLG	1	152280440	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	3888	152280440	96970181	7	11602											
SEC16B	89866	broad.mit.edu	37	1	177936906	177936906	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:177936906G>T	uc001glj.1	-	6	1077	c.211C>A	c.(211-213)Cat>Aat	p.H71N	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.H71N|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.H71N	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	71	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GATGCATAATGGGGCTGCTGC	0.542													T	177936906	G	T	177936906	3	4	167	1	0	0	0	0	1	0	0	0	13987	1348	47	5	3071	5	SEC16B	1	177936906	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	25656466	177936906	71313715	8	11603											
LAMB3	3914	broad.mit.edu	37	1	209791966	209791966	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:209791966C>T	uc001hhg.3	-	17	3130	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	LAMB3_uc009xco.3_Missense_Mutation_p.E914K|LAMB3_uc001hhh.3_Missense_Mutation_p.E914K	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	914	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCACGGCCTCGCTGACCTCC	0.582													T	209791966	C	T	209791966	3	4	167	1	0	0	0	0	1	0	0	0	8612	893	31	2	798	2	LAMB3	1	209791966	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	31855060	209791966	39458655	9	11604											
CENPF	1063	broad.mit.edu	37	1	214819178	214819178	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:214819178G>A	uc001hkm.3	+	12	6439	c.6265G>A	c.(6265-6267)Gtc>Atc	p.V2089I		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2185					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			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)		AAAGCTGAATGTCTCCAAGGC	0.473													A	214819178	G	A	214819178	3	1	167	1	0	0	0	0	1	0	0	0	3231	1377	48	3	6311	3	CENPF	1	214819178	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	5027212	214819178	34431443	10	11605											
ADCY3	109	broad.mit.edu	37	2	25141642	25141642	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:25141642C>T	uc010ykm.2	-	0	414	c.215G>A	c.(214-216)aGg>aAg	p.R72K	ADCY3_uc002rfs.4_Missense_Mutation_p.R72K	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	72					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGGCGCTGCCTTTTGAAGTA	0.597													T	25141642	C	T	25141642	3	4	167	1	0	0	0	0	1	0	0	0	295	681	24	3	3303	3	ADCY3	2	25141642	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		25141642	218057731	11	11606											
UXS1	80146	broad.mit.edu	37	2	106710571	106710571	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:106710571G>A	uc002tdm.3	-	14	1272	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	UXS1_uc002tdk.3_Missense_Mutation_p.R190C|UXS1_uc002tdl.3_Missense_Mutation_p.R224C|UXS1_uc002tdn.3_Missense_Mutation_p.R397C|UXS1_uc002tdo.3_Missense_Mutation_p.R335C	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	392					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTTCTTTACGGAAGTAGTGA	0.468													A	106710571	G	A	106710571	3	1	167	1	0	0	0	0	1	0	0	0	17106	1116	39	2	92	2	UXS1	2	106710571	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	81568929	106710571	136488802	12	11607											
TUBA3D	113457	broad.mit.edu	37	2	132238151	132238151	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:132238151C>T	uc002tsu.4	+	3	1078	c.885C>T	c.(883-885)tgC>tgT	p.C295C		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	295					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAATGCCTGCTTCGAGCCAG	0.597													T	132238151	C	T	132238151	2	4	167	1	0	0	0	0	0	0	0	1	16744	805	28	3		3	TUBA3D	2	132238151	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	25527580	132238151	110961222	13	11608											
HOXD9	3235	broad.mit.edu	37	2	176988850	176988850	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:176988850C>A	uc010zex.2	+	1	1090	c.1006C>A	c.(1006-1008)Cgt>Agt	p.R336S		NM_014213	NP_055028	P28356	HXD9_HUMAN	Homo sapiens homeobox D9 (HOXD9), mRNA.	336						nucleus	sequence-specific DNA binding	p.E336D(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTTTCAGAACCGTAGGATGAA	0.532													A	176988850	C	A	176988850	3	1	167	1	0	0	0	0	1	0	0	0	7326	652	23	5	1012	5	HOXD9	2	176988850	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	44750699	176988850	66210523	14	11609											
AOX1	316	broad.mit.edu	37	2	201478599	201478599	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:201478599G>A	uc002uvx.3	+	14	1622	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	AOX1_uc010zhf.2_Silent_p.A63A|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	507					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.A507A(2)|p.A507V(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)	TGGGCTCGGCGCCAGGTGGGA	0.468													A	201478599	G	A	201478599	2	1	167	1	0	0	0	0	0	0	0	1	729	1074	38	1		1	AOX1	2	201478599	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	24489749	201478599	41720774	15	11610											
GRIP2	80852	broad.mit.edu	37	3	14552933	14552933	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:14552933C>T	uc021wtn.1	-	16	2063	c.2063G>A	c.(2062-2064)aGc>aAc	p.S688N	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	592	PDZ 6.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTGTGCCACGCTGCCTTTCTT	0.597													T	14552933	C	T	14552933	3	4	167	1	0	0	0	0	1	0	0	0	6788	797	28	3	1395	3	GRIP2	3	14552933	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		14552933	183469497	16	11611											
TRIM71	131405	broad.mit.edu	37	3	32915463	32915463	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:32915463C>T	uc003cff.3	+	1	1069	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	336					multicellular organismal development	cytoplasm	zinc ion binding	p.R336fs*6(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGCAGGGACGACAGGCAAT	0.612													T	32915463	C	T	32915463	4	4	167	1	0	0	0	0	0	1	0	0	16541	528	19	1	1012	1	TRIM71	3	32915463	Nonsense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	18362530	32915463	165106967	17	11612											
MINA	84864	broad.mit.edu	37	3	97686291	97686291	+	Silent	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:97686291G>T	uc003drz.1	-	1	653	c.147C>A	c.(145-147)atC>atA	p.I49I	MINA_uc003dsa.1_Silent_p.I49I|MINA_uc003dsb.1_Silent_p.I49I|MINA_uc003dsc.1_Silent_p.I49I|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Intron	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	49					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TCTCTGTCTTGATGGGCGAGA	0.488													T	97686291	G	T	97686291	2	4	167	1	0	0	0	0	0	0	0	1	9586	1280	45	5		5	MINA	3	97686291	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	64770828	97686291	100336139	18	11613											
ALCAM	214	broad.mit.edu	37	3	105238918	105238918	+	Silent	SNP	A	A	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:105238918A>T	uc003dvx.3	+	1	777	c.81A>T	c.(79-81)ggA>ggT	p.G27G	ALCAM_uc003dvv.3_Silent_p.G27G|ALCAM_uc003dvw.2_Silent_p.G27G|ALCAM_uc003dvy.3_Silent_p.G27G|ALCAM_uc011bhh.1_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	27					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAGGCCTTGGATGGTATACTG	0.358													T	105238918	A	T	105238918	2	4	167	1	0	0	0	0	0	0	0	1	487	320	12	5		5	ALCAM	3	105238918	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08	7552627	105238918	92783512	19	11614											
BCHE	590	broad.mit.edu	37	3	165503999	165503999	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:165503999T>C	uc003fem.4	-	2	1778	c.1618A>G	c.(1618-1620)Acg>Gcg	p.T540A	BCHE_uc003fen.4_Non-coding_Transcript	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	540					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CGTAGTTTCGTCATTATTCTT	0.363													C	165503999	T	C	165503999	3	2	167	1	0	0	0	0	1	0	0	0	1358	1667	58	4	198	4	BCHE	3	165503999	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	60265081	165503999	32518431	20	11615											
PIK3CA	5290	broad.mit.edu	37	3	178916623	178916623	+	Nonsense_Mutation	SNP	C	C	T	rs1051397		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:178916623C>T	uc003fjk.3	+	1	167	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	4					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGCCTCCACGACCATCATC	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178916623	C	T	178916623	4	4	167	1	0	0	0	0	0	1	0	0	11913	528	19	1	12	1	PIK3CA	3	178916623	Nonsense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	13412624	178916623	19105807	21	11616											
PIK3CA	5290	broad.mit.edu	37	3	178916945	178916945	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:178916945A>G	uc003fjk.3	+	1	489	c.332A>G	c.(331-333)aAg>aGg	p.K111R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111N(13)|p.K111E(12)|p.E110K(4)|p.K111_L113delKIL(3)|p.K111R(2)|p.K111del(2)|p.K111_I112>N(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CGTGAAGAAAAGATCCTCAAT	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916945	A	G	178916945	3	3	167	1	0	0	0	0	1	0	0	0	11913	72	3	4	334	4	PIK3CA	3	178916945	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	322	178916945	19105485	22	11617											
WDR1	9948	broad.mit.edu	37	4	10099515	10099515	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:10099515C>T	uc021xlv.1	-	5	661	c.378_splice	c.e5-1	p.K126_splice	WDR1_uc021xlw.1_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	126					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGCTCCAAACCTTGACCCAA	0.478													T	10099515	C	T	10099515	2	4	167	1	0	0	0	0	0	0	0	1	17269	521	18	3		3	WDR1	4	10099515	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08		10099515	181054761	23	11618											
CDKL2	8999	broad.mit.edu	37	4	76539498	76539498	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:76539498C>G	uc011cbp.2	-	2	829	c.304G>C	c.(304-306)Gta>Cta	p.V102L	CDKL2_uc003hiq.3_Missense_Mutation_p.V102L|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	102	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTTGAACTACTTGGTAGTCT	0.313													G	76539498	C	G	76539498	3	3	167	1	0	0	0	0	1	0	0	0	3154	565	20	5	1213	5	CDKL2	4	76539498	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	66439983	76539498	114614778	24	11619											
HTR1A	3350	broad.mit.edu	37	5	63256355	63256355	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:63256355C>T	uc011cqt.2	-	0	1192	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	398					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.P397H(1)|p.P397P(1)|p.P397T(1)|p.P397N(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGTAAATGACGGGGTTAAGC	0.517													T	63256355	C	T	63256355	3	4	167	1	0	0	0	0	1	0	0	0	7436	536	19	1	79	1	HTR1A	5	63256355	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		63256355	117658905	25	11620											
GPR98	84059	broad.mit.edu	37	5	90049615	90049615	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:90049615G>A	uc003kju.3	+	53	11442	c.11346G>A	c.(11344-11346)gcG>gcA	p.A3782A	GPR98_uc003kjt.3_Silent_p.A1488A|GPR98_uc003kjv.3_Silent_p.A1382A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3782					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGCGTGCTGCGTCTGTCTTCA	0.368													A	90049615	G	A	90049615	2	1	167	1	0	0	0	0	0	0	0	1	6721	1132	40	1		1	GPR98	5	90049615	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	26793260	90049615	90865645	26	11621											
PCDHAC2	56140	broad.mit.edu	37	5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:140222810G>A	uc003lhs.2	+	0	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R635H	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	646	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647													A	140222810	G	A	140222810	3	1	167	1	0	0	0	0	1	0	0	0	11533	1145	40	1		1	PCDHAC2	5	140222810	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	50173195	140222810	40692450	27	11622											
KIF4B	285643	broad.mit.edu	37	5	154395782	154395782	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:154395782G>A	uc010jih.1	+	0	2523	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	788	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGGAATCTCGGGAGAATCCA	0.438													A	154395782	G	A	154395782	3	1	167	1	0	0	0	0	1	0	0	0	8304	1116	39	2	2365	2	KIF4B	5	154395782	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	14172972	154395782	26519478	28	11623											
ME1	4199	broad.mit.edu	37	6	84056027	84056027	+	Silent	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:84056027A>G	uc003pjy.3	-	4	730	c.465T>C	c.(463-465)cgT>cgC	p.R155R	ME1_uc011dzb.2_Silent_p.R80R|ME1_uc011dzc.2_5'UTR	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	155					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AGCCAAGAATACGCTCTCCAT	0.428													G	84056027	A	G	84056027	2	3	167	1	0	0	0	0	0	0	0	1	9417	378	14	4		4	ME1	6	84056027	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08		84056027	87059040	29	11624											
PRDM13	59336	broad.mit.edu	37	6	100062503	100062503	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:100062503C>T	uc003pqg.1	+	3	2253	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		AAGCGGGCGACGGCCCGGGTG	0.687													T	100062503	C	T	100062503	2	4	167	1	0	0	0	0	0	0	0	1	12454	535	19	1		1	PRDM13	6	100062503	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	16006476	100062503	71052564	30	11625											
DSE	29940	broad.mit.edu	37	6	116720360	116720360	+	Splice_Site	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:116720360G>A	uc011ebg.2	+	2	104	c.5_splice	c.e2-1	p.G2_splice	DSE_uc011ebf.1_Splice_Site|DSE_uc003pwq.1_Splice_Site|DSE_uc003pws.3_Splice_Site|DSE_uc003pwt.3_Splice_Site	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	0					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATCTCACGTAGGATCTTTCGA	0.433													A	116720360	G	A	116720360	5	1	167	1	0	0	0	0	0	0	1	0	4774	1014	35	3		3	DSE	6	116720360	Splice_Site	SNP	G	TCGA-19-5954-01A-11D-1696-08	16657857	116720360	54394707	31	11626											
C6orf170	221322	broad.mit.edu	37	6	121427228	121427228	+	Nonsense_Mutation	SNP	T	T	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:121427228T>A	uc003pyo.1	-	29	3474	c.3406A>T	c.(3406-3408)Aag>Tag	p.K1136*		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	1136	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AACTCAGCCTTCAGTAGCATT	0.393													A	121427228	T	A	121427228	4	1	167	1	0	0	0	0	0	1	0	0	2344	1792	62	5	379	5	C6orf170	6	121427228	Nonsense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	4706868	121427228	49687839	32	11627											
SYNE1	23345	broad.mit.edu	37	6	152660497	152660497	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:152660497T>C	uc021zhb.1	-	72	12453	c.12230A>G	c.(12229-12231)aAa>aGa	p.K4077R	SYNE1_uc003qot.4_Missense_Mutation_p.K4006R|SYNE1_uc003qou.4_Missense_Mutation_p.K4077R|SYNE1_uc010kja.2_Missense_Mutation_p.K782R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4077					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			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)		TCTGAAGTGTTTGACCTGGAA	0.403										HNSCC(10;0.0054)			C	152660497	T	C	152660497	3	2	167	1	0	0	0	0	1	0	0	0	15442	1841	64	4	14524	4	SYNE1	6	152660497	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	31233269	152660497	18454570	33	11628											
SNX13	23161	broad.mit.edu	37	7	17861198	17861198	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:17861198C>T	uc003stv.3	-	17	1992	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	SNX13_uc010kuc.3_Silent_p.E390E|SNX13_uc003stw.1_Silent_p.E604E|SNX13_uc010kub.3_5'UTR	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	604	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCCACATCTCCTCACTGTTTA	0.413													T	17861198	C	T	17861198	2	4	167	1	0	0	0	0	0	0	0	1	14884	680	24	3		3	SNX13	7	17861198	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08		17861198	141277465	34	11629											
CHN2	1124	broad.mit.edu	37	7	29407583	29407583	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:29407583A>G	uc003szz.3	+	2	561	c.124A>G	c.(124-126)Aga>Gga	p.R42G	CHN2_uc011jzs.2_Missense_Mutation_p.R117G|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Intron|CHN2_uc011jzt.2_Missense_Mutation_p.R55G|CHN2_uc010kvd.3_Missense_Mutation_p.R42G|CHN2_uc011jzu.2_Missense_Mutation_p.R27G	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	42					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCGTCCCAAGAGAATCATTTG	0.403													G	29407583	A	G	29407583	3	3	167	1	0	0	0	0	1	0	0	0	3363	296	11	4	134	4	CHN2	7	29407583	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	11546385	29407583	129731080	35	11630											
PLEKHA8	84725	broad.mit.edu	37	7	30088881	30088882	+	Frame_Shift_Ins	INS	-	-	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:30088881_30088882insA	uc003taq.3	+	4	882_883	c.480_481insA	c.(478-483)aatactfs	p.N160fs	PLEKHA8_uc022aba.1_Frame_Shift_Ins_p.N160fs|PLEKHA8_uc003tan.3_Frame_Shift_Ins_p.N160fs	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	160					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAACCTGTAATACTTTTCTGAA	0.465													A	30088882	-	A	30088881	7	5	167	1	0	1	1	0	0	0	0	0	12062	1403	49	0	498	0	PLEKHA8	7	30088881	Frame_Shift_Ins	INS	-	TCGA-19-5954-01A-11D-1696-08	681298	30088881	129049782	36	11631											
CDK13	8621	broad.mit.edu	37	7	40117639	40117639	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:40117639C>T	uc003thh.4	+	9	3098	c.2816C>T	c.(2815-2817)cCt>cTt	p.P939L	CDK13_uc003thi.4_Missense_Mutation_p.P939L|CDK13_uc003thj.3_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	939	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCAGTGTGGCCTGATGTAATC	0.368													T	40117639	C	T	40117639	3	4	167	1	0	0	0	0	1	0	0	0	3129	681	24	3	2854	3	CDK13	7	40117639	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	10028758	40117639	119021024	37	11632											
ABCB1	5243	broad.mit.edu	37	7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	rs144369247		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:87148696C>T	uc003uiz.2	-	23	3366	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	ABCB1_uc011khc.2_Missense_Mutation_p.R894Q	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	958	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GGCTCCAAACCGGAAACATCC	0.383													T	87148696	C	T	87148696	3	4	167	1	0	0	0	0	1	0	0	0	40	652	23	2	993	2	ABCB1	7	87148696	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	47031057	87148696	71989967	38	11633											
SAMD9L	219285	broad.mit.edu	37	7	92761184	92761184	+	Silent	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:92761184T>C	uc003umh.1	-	4	5317	c.4101A>G	c.(4099-4101)ctA>ctG	p.L1367L	SAMD9L_uc003umj.1_Silent_p.L1367L|SAMD9L_uc003umi.1_Silent_p.L1367L|SAMD9L_uc010lfb.1_Silent_p.L1367L|SAMD9L_uc003umk.1_Silent_p.L1367L|SAMD9L_uc010lfc.1_Silent_p.L1367L|SAMD9L_uc010lfd.1_Silent_p.L1367L|SAMD9L_uc022ahh.1_Silent_p.L1367L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1367										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGCTGCAGTAGGAAGGCAT	0.383													C	92761184	T	C	92761184	2	2	167	1	0	0	0	0	0	0	0	1	13827	1625	57	4		4	SAMD9L	7	92761184	Silent	SNP	T	TCGA-19-5954-01A-11D-1696-08	5612488	92761184	66377479	39	11634											
MUC17	140453	broad.mit.edu	37	7	100685627	100685627	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:100685627A>G	uc003uxp.1	+	2	10983	c.10930A>G	c.(10930-10932)Acc>Gcc	p.T3644A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3644	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					GCCTGTCAGCACCACATCGGT	0.478													G	100685627	A	G	100685627	3	3	167	1	0	0	0	0	1	0	0	0	9974	159	6	4	10940	4	MUC17	7	100685627	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	7924443	100685627	58453036	40	11635											
PTPRZ1	5803	broad.mit.edu	37	7	121651361	121651361	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:121651361A>G	uc003vjy.3	+	11	2656	c.2261A>G	c.(2260-2262)aAt>aGt	p.N754S	PTPRZ1_uc011knt.2_Missense_Mutation_p.N754S|PTPRZ1_uc003vjz.3_Missense_Mutation_p.N754S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	754					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			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						CCGGTATACAATGGTGAGACA	0.488													G	121651361	A	G	121651361	3	3	167	1	0	0	0	0	1	0	0	0	12814	101	4	4	2307	4	PTPRZ1	7	121651361	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	20965734	121651361	37487302	41	11636											
OR6V1	346517	broad.mit.edu	37	7	142749543	142749543	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:142749543G>A	uc011ksv.2	+	0	106	c.106G>A	c.(106-108)Gcc>Acc	p.A36T		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTATCTTCTCGCCTTCATGGG	0.498													A	142749543	G	A	142749543	3	1	167	1	0	0	0	0	1	0	0	0	11211	1087	38	1	108	1	OR6V1	7	142749543	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	21098182	142749543	16389120	42	11637											
IDO2	169355	broad.mit.edu	37	8	39836613	39836613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr8:39836613A>T	uc010lwy.1	+	3	504	c.262A>T	c.(262-264)Aag>Tag	p.K88*	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	75					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCAGTTCCTGAAGGGTCACCG	0.637													T	39836613	A	T	39836613	4	4	167	1	0	0	0	0	0	1	0	0	7502	247	9	5	276	5	IDO2	8	39836613	Nonsense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		39836613	106527409	43	11638											
FBXO43	286151	broad.mit.edu	37	8	101149805	101149805	+	Silent	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr8:101149805T>C	uc003yjd.3	-	2	2398	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K	FBXO43_uc003yje.3_Silent_p.K520K|FBXO43_uc010mbp.2_Silent_p.K554K	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	554					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAGAATCTGTTTTCAGTTGTG	0.308													C	101149805	T	C	101149805	2	2	167	1	0	0	0	0	0	0	0	1	5752	1838	64	4		4	FBXO43	8	101149805	Silent	SNP	T	TCGA-19-5954-01A-11D-1696-08	61313192	101149805	45214217	44	11639											
TRPM6	140803	broad.mit.edu	37	9	77436668	77436668	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr9:77436668G>T	uc004ajl.1	-	7	1165	c.927C>A	c.(925-927)gaC>gaA	p.D309E	TRPM6_uc004ajk.1_Missense_Mutation_p.D304E|TRPM6_uc022bib.1_Missense_Mutation_p.D304E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.D309E|TRPM6_uc010mpd.1_Missense_Mutation_p.D309E|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	309					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			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						CTGGGTCCTTGTCCTTGACAG	0.592													T	77436668	G	T	77436668	3	4	167	1	0	0	0	0	1	0	0	0	16587	1368	48	5	5269	5	TRPM6	9	77436668	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08		77436668	63776763	45	11640											
MYOF	26509	broad.mit.edu	37	10	95148849	95148849	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:95148849A>G	uc001kin.3	-	17	1642	c.1519T>C	c.(1519-1521)Tat>Cat	p.Y507H	MYOF_uc001kio.3_Missense_Mutation_p.Y494H	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	507					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGGCTTCCATAAAGATTCAGG	0.428													G	95148849	A	G	95148849	3	3	167	1	0	0	0	0	1	0	0	0	10089	362	13	4	4814	4	MYOF	10	95148849	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		95148849	40385898	46	11641											
MKI67	4288	broad.mit.edu	37	10	129906302	129906302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:129906302G>A	uc001lke.3	-	12	3997	c.3802C>T	c.(3802-3804)Cga>Tga	p.R1268*	MKI67_uc001lkf.3_Nonsense_Mutation_p.R908*|MKI67_uc009yav.1_Nonsense_Mutation_p.R843*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R418*	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1268	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.R1268Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTGGGTCGTTGCTTTGTG	0.507													A	129906302	G	A	129906302	4	1	167	1	0	0	0	0	0	1	0	0	9598	1153	40	1	5980	1	MKI67	10	129906302	Nonsense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	34757453	129906302	5628445	47	11642											
F2	2147	broad.mit.edu	37	11	46750326	46750326	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:46750326C>G	uc001ndf.4	+	10	1454	c.1411C>G	c.(1411-1413)Cct>Gct	p.P471A		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	471	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.P471S(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCTGAAGAAGCCTGTTGCCTT	0.547													G	46750326	C	G	46750326	3	3	167	1	0	0	0	0	1	0	0	0	5342	739	26	5	1453	5	F2	11	46750326	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		46750326	88256190	48	11643											
FAM111A	63901	broad.mit.edu	37	11	58919918	58919918	+	Silent	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:58919918A>G	uc010rkp.2	+	4	1004	c.777A>G	c.(775-777)ttA>ttG	p.L259L	FAM111A_uc010rkq.2_Silent_p.L259L|FAM111A_uc010rkr.2_Silent_p.L259L|FAM111A_uc001nno.3_Silent_p.L259L|FAM111A_uc001nnp.3_Silent_p.L259L|FAM111A_uc001nnq.3_Silent_p.L259L	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	259					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTGATGAATTAGAAGGCAGAT	0.423													G	58919918	A	G	58919918	2	3	167	1	0	0	0	0	0	0	0	1	5399	417	15	4		4	FAM111A	11	58919918	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08	12169592	58919918	76086598	49	11644											
NRXN2	9379	broad.mit.edu	37	11	64375399	64375399	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:64375399G>A	uc021qkw.1	-	22	4870	c.4408C>T	c.(4408-4410)Cgc>Tgc	p.R1470C	NRXN2_uc021qkx.1_Missense_Mutation_p.R1400C|NRXN2_uc001oas.3_Missense_Mutation_p.R1400C|NRXN2_uc001oao.3_Missense_Mutation_p.R110C|NRXN2_uc001oap.3_Missense_Mutation_p.R424C|NRXN2_uc001oaq.3_Missense_Mutation_p.R1137C	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1470					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GAgggcgggcggcgcgcggcg	0.751													A	64375399	G	A	64375399	3	1	167	1	0	0	0	0	1	0	0	0	10666	1116	39	2	734	2	NRXN2	11	64375399	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	5455481	64375399	70631117	50	11645											
IL10RA	3587	broad.mit.edu	37	11	117860220	117860220	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:117860220C>T	uc001prv.3	+	2	329	c.252C>T	c.(250-252)acC>acT	p.T84T	IL10RA_uc010rxl.2_Silent_p.T64T|IL10RA_uc010rxm.2_Silent_p.T64T|IL10RA_uc010rxn.2_Intron|IL10RA_uc001prw.3_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	84			T -> I (in IBD28).			integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATGACCTTACCGCAGTGACCT	0.577													T	117860220	C	T	117860220	2	4	167	1	0	0	0	0	0	0	0	1	7620	639	23	2		2	IL10RA	11	117860220	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	53484821	117860220	17146296	51	11646											
APLP2	334	broad.mit.edu	37	11	129999030	129999030	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:129999030G>A	uc010sby.2	+	9	1541	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	APLP2_uc001qfp.3_Missense_Mutation_p.A462T|APLP2_uc001qfq.3_Missense_Mutation_p.A406T|APLP2_uc010sbz.2_Missense_Mutation_p.A250T|APLP2_uc001qfr.3_Missense_Mutation_p.A228T|APLP2_uc001qfs.3_Missense_Mutation_p.A233T|APLP2_uc021qsg.1_Missense_Mutation_p.A472T|APLP2_uc001qfv.3_Missense_Mutation_p.A353T	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	462					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCGAGTGGAAGCTATGCTGAA	0.582													A	129999030	G	A	129999030	3	1	167	1	0	0	0	0	1	0	0	0	779	971	34	3	1422	3	APLP2	11	129999030	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	12138810	129999030	5007486	52	11647											
TAS2R30	259293	broad.mit.edu	37	12	11286246	11286246	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr12:11286246A>G	uc009zhs.1	-	0	598	c.598T>C	c.(598-600)Tgt>Cgt	p.C200R	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CACAGAGAACAGATTAACAGC	0.428													G	11286246	A	G	11286246	3	3	167	1	0	0	0	0	1	0	0	0	15570	188	7	4	365	4	TAS2R30	12	11286246	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		11286246	122565649	53	11648											
SOAT2	8435	broad.mit.edu	37	12	53516999	53516999	+	Silent	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr12:53516999A>G	uc001sbv.3	+	13	1460	c.1372_splice	c.e13+1	p.G458_splice	SOAT2_uc009zms.3_Splice_Site	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	458					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TTGTCATTGGAGGTGAGCTGG	0.582													G	53516999	A	G	53516999	2	3	167	1	0	0	0	0	0	0	0	1	14911	318	11	4		4	SOAT2	12	53516999	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08	42230753	53516999	80334896	54	11649											
CLYBL	171425	broad.mit.edu	37	13	100425088	100425088	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr13:100425088C>G	uc001vok.3	+	1	104	c.73C>G	c.(73-75)Cta>Gta	p.L25V	CLYBL_uc010tix.2_Missense_Mutation_p.L25V|CLYBL_uc010tiy.2_Missense_Mutation_p.L25V	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	25					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAAGCGTCTCTAGCAGCTGA	0.388													G	100425088	C	G	100425088	3	3	167	1	0	0	0	0	1	0	0	0	3573	912	32	5	79	5	CLYBL	13	100425088	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		100425088	14744790	55	11650											
ALDH6A1	4329	broad.mit.edu	37	14	74534253	74534253	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr14:74534253A>G	uc001xpo.3	-	7	971	c.872T>C	c.(871-873)gTa>gCa	p.V291A	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.V278A|ALDH6A1_uc010asa.3_Missense_Mutation_p.V136A	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	291						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TGGCATGACTACCCCATGGTT	0.478													G	74534253	A	G	74534253	3	3	167	1	0	0	0	0	1	0	0	0	503	391	14	4	755	4	ALDH6A1	14	74534253	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		74534253	32815287	56	11651											
LTBP2	4053	broad.mit.edu	37	14	75078642	75078642	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr14:75078642C>T	uc001xqa.3	-	0	393	c.6G>A	c.(4-6)agG>agA	p.R2R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	2					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGTCCGCGGCCTCATGGCGC	0.756													T	75078642	C	T	75078642	2	4	167	1	0	0	0	0	0	0	0	1	9074	738	26	3		3	LTBP2	14	75078642	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	544389	75078642	32270898	57	11652											
GABRB3	2562	broad.mit.edu	37	15	26812728	26812728	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:26812728C>T	uc001zbb.3	-	8	1106	c.1003_splice	c.e8+1	p.G335_splice	GABRB3_uc021sgg.1_Splice_Site_p.G208_splice|GABRB3_uc021sgh.1_Splice_Site_p.G194_splice|GABRB3_uc001zaz.3_Splice_Site_p.G279_splice|GABRB3_uc001zba.3_Splice_Site_p.G279_splice	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	279					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.G279R(2)|p.G335R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TAGCACATACCGAGGGCAACT	0.373													T	26812728	C	T	26812728	3	4	167	1	0	0	0	0	1	0	0	0	6168	666	23	2	598	2	GABRB3	15	26812728	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		26812728	75718664	58	11653											
ALDH1A2	8854	broad.mit.edu	37	15	58306465	58306465	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:58306465G>A	uc002aex.3	-	1	405	c.132C>T	c.(130-132)aaC>aaT	p.N44N	ALDH1A2_uc010ugv.2_Silent_p.N23N|ALDH1A2_uc002aey.3_Silent_p.N44N|ALDH1A2_uc010ugw.2_Silent_p.N15N|ALDH1A2_uc002aew.3_5'Flank	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	44					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			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)	TCTGCCACTCGTTGTTTATAA	0.453													A	58306465	G	A	58306465	2	1	167	1	0	0	0	0	0	0	0	1	491	1136	40	1		1	ALDH1A2	15	58306465	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	31493737	58306465	44224927	59	11654											
CIB1	10519	broad.mit.edu	37	15	90775506	90775506	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:90775506G>A	uc002bpb.4	-	2	302	c.140C>T	c.(139-141)tCg>tTg	p.S47L	GDPGP1_uc002bpc.3_5'Flank	NM_006384	NP_006375	Q99828	CIB1_HUMAN	Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA.	47					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCGAAGTGACGACTCCACGCT	0.612													A	90775506	G	A	90775506	3	1	167	1	0	0	0	0	1	0	0	0	3420	1059	37	2	455	2	CIB1	15	90775506	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	32469041	90775506	11755886	60	11655											
HS3ST6	64711	broad.mit.edu	37	16	1962053	1962053	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:1962053G>A	uc002cnf.3	-	1	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	158										endometrium(2)|lung(2)	4						GGGCGTAGTCGGAGATGGCCC	0.721													A	1962053	G	A	1962053	2	1	167	1	0	0	0	0	0	0	0	1	7369	1103	39	2		2	HS3ST6	16	1962053	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08		1962053	88392700	61	11656											
GDPD3	79153	broad.mit.edu	37	16	30124034	30124036	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:30124034_30124036delTCA	uc002dwp.3	-	2	340_342	c.261_263delTGA	c.(259-264)gatgag>gag	p.D87del	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_In_Frame_Del_p.D25del|NR_027081_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	87	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GCACAGGTTCTCATCATGTGACA	0.645											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	30124036	TCA	-	30124034	7	5	167	1	0	1	0	1	0	0	0	0	6325	1551	54	0	725	0	GDPD3	16	30124034	In_Frame_Del	DEL	TCA	TCGA-19-5954-01A-11D-1696-08	28161981	30124034	60230719	62	11657											
CHD9	80205	broad.mit.edu	37	16	53308187	53308187	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:53308187A>T	uc002ehb.3	+	22	5104	c.4940A>T	c.(4939-4941)cAg>cTg	p.Q1647L	CHD9_uc002egy.3_Missense_Mutation_p.Q1647L|CHD9_uc002ehc.3_Missense_Mutation_p.Q1647L|CHD9_uc002ehf.3_Missense_Mutation_p.Q761L|CHD9_uc002ehg.2_Missense_Mutation_p.Q761L|CHD9_uc010cbw.3_Missense_Mutation_p.Q15L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1647					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AATGAGTGTCAGAAAGTATTT	0.348													T	53308187	A	T	53308187	3	4	167	1	0	0	0	0	1	0	0	0	3332	188	7	5	5030	5	CHD9	16	53308187	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	23184153	53308187	37046566	63	11658											
MFSD6L	162387	broad.mit.edu	37	17	8702398	8702398	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:8702398C>A	uc002glp.2	-	0	270	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	14						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CTTGGCCACCCCCAGCGCCCT	0.726													A	8702398	C	A	8702398	3	1	167	1	0	0	0	0	1	0	0	0	9536	623	22	5	1723	5	MFSD6L	17	8702398	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		8702398	72492812	64	11659											
SREBF1	6720	broad.mit.edu	37	17	17721038	17721038	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:17721038G>T	uc002gru.2	-	6	1570	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	SREBF1_uc002grp.2_Missense_Mutation_p.L29M|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.P205H|SREBF1_uc002grs.2_Missense_Mutation_p.P435H|SREBF1_uc002grt.2_Missense_Mutation_p.P489H|SREBF1_uc010cpp.1_Missense_Mutation_p.P435H|SREBF1_uc010cpq.1_Missense_Mutation_p.P459H	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	459	Gly/Pro/Ser-rich.|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGGGCTGTCAGGCTCCGAGTC	0.657													T	17721038	G	T	17721038	3	4	167	1	0	0	0	0	1	0	0	0	15140	1000	35	5	2119	5	SREBF1	17	17721038	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	9018640	17721038	63474172	65	11660											
RGS9	8787	broad.mit.edu	37	17	63221294	63221294	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:63221294G>A	uc002jfe.3	+	17	1785	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	RGS9_uc010dem.3_Missense_Mutation_p.V525M|RGS9_uc002jfd.3_Missense_Mutation_p.V525M|RGS9_uc002jfg.3_Missense_Mutation_p.V299M	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	528				RVALE -> LVVLD (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACCCATCAGAGTGGCCTTGGA	0.677													A	63221294	G	A	63221294	3	1	167	1	0	0	0	0	1	0	0	0	13313	1029	36	3	1707	3	RGS9	17	63221294	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	45500256	63221294	17973916	66	11661											
SERPINB2	5055	broad.mit.edu	37	18	61570323	61570323	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr18:61570323G>A	uc010xeu.2	+	8	1365	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	SERPINB2_uc002ljo.3_Silent_p.S344S|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	344					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.S344S(2)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGGGATGTCGGAGAGGAATG	0.498													A	61570323	G	A	61570323	2	1	167	1	0	0	0	0	0	0	0	1	14101	1103	39	2		2	SERPINB2	18	61570323	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08		61570323	16506925	67	11662											
ADNP2	22850	broad.mit.edu	37	18	77895050	77895050	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr18:77895050G>A	uc002lnw.3	+	3	2209	c.1754G>A	c.(1753-1755)gGt>gAt	p.G585D		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	585					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			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)		GTGAGACCTGGTGCTTCGCAG	0.552													A	77895050	G	A	77895050	3	1	167	1	0	0	0	0	1	0	0	0	324	1261	44	3	1764	3	ADNP2	18	77895050	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	16324727	77895050	182198	68	11663											
VAV1	7409	broad.mit.edu	37	19	6828672	6828672	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:6828672G>A	uc002mfu.1	+	11	1229	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	VAV1_uc010xjh.1_Missense_Mutation_p.E346K|VAV1_uc010dva.1_Missense_Mutation_p.E378K|VAV1_uc002mfv.1_Missense_Mutation_p.E323K	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	378					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCGAGACAACGAGACACTGCG	0.637													A	6828672	G	A	6828672	3	1	167	1	0	0	0	0	1	0	0	0	17128	1059	37	2	1178	2	VAV1	19	6828672	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08		6828672	52300311	69	11664											
MUC16	94025	broad.mit.edu	37	19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:9014654C>T	uc002mkp.3	-	30	38525	c.38321G>A	c.(38320-38322)cGt>cAt	p.R12774H	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12776	SEA 5.			Missing (in Ref. 3; AAK74120).	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						GGGGTCAAGACGGTGGGTGCA	0.567													T	9014654	C	T	9014654	3	4	167	1	0	0	0	0	1	0	0	0	9973	536	19	1	5418	1	MUC16	19	9014654	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	2185982	9014654	50114329	70	11665											
IL27RA	9466	broad.mit.edu	37	19	14150321	14150321	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:14150321C>T	uc002mxx.3	+	3	642	c.219_splice	c.e3-1	p.Y73_splice		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	73					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCCTCACAGCCGTTCCAACAA	0.602													T	14150321	C	T	14150321	3	4	167	1	0	0	0	0	1	0	0	0	7681	666	23	2	230	2	IL27RA	19	14150321	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	5135667	14150321	44978662	71	11666											
CPAMD8	27151	broad.mit.edu	37	19	17017818	17017818	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:17017818C>T	uc002nfb.3	-	29	4144	c.4112G>A	c.(4111-4113)cGc>cAc	p.R1371H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1324						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGCCGGGCTGCGGAGCAGGGT	0.667													T	17017818	C	T	17017818	3	4	167	1	0	0	0	0	1	0	0	0	3795	768	27	1	1738	1	CPAMD8	19	17017818	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	2867497	17017818	42111165	72	11667											
ABHD8	79575	broad.mit.edu	37	19	17411828	17411828	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:17411828G>A	uc002ngb.4	-	1	838	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	200							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TAGCCTAGGCGCACAAAGAAG	0.642													A	17411828	G	A	17411828	3	1	167	1	0	0	0	0	1	0	0	0	87	1087	38	1	737	1	ABHD8	19	17411828	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	394010	17411828	41717155	73	11668											
LGALS14	56891	broad.mit.edu	37	19	40197279	40197279	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:40197279G>A	uc002omf.3	+	2	586	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	LGALS14_uc002omg.3_Missense_Mutation_p.V20M	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA.	20	Galectin.					nucleus	sugar binding	p.C48C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TGGTTCGTGCGTGATAATCAC	0.498													A	40197279	G	A	40197279	3	1	167	1	0	0	0	0	1	0	0	0	8741	1145	40	1	170	1	LGALS14	19	40197279	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	22785451	40197279	18931704	74	11669											
KLK5	25818	broad.mit.edu	37	19	51452018	51452018	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:51452018T>C	uc002pue.3	-	5	822	c.604A>G	c.(604-606)Aag>Gag	p.K202E	KLK5_uc002puf.3_Missense_Mutation_p.K202E|KLK5_uc002pug.3_Missense_Mutation_p.K202E	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	202	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGGAGGACCTTAGGGAAGTGC	0.502													C	51452018	T	C	51452018	3	2	167	1	0	0	0	0	1	0	0	0	8407	1763	61	4	285	4	KLK5	19	51452018	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	11254739	51452018	7676965	75	11670											
KIR3DL2	3811	broad.mit.edu	37	19	55331314	55331314	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:55331314G>A	uc002qhl.4	+	3	565	c.502G>A	c.(502-504)Gtt>Att	p.V168I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.V168I|KIR3DL2_uc010esf.3_Missense_Mutation_p.V73I|KIR3DL2_uc021vbo.1_Missense_Mutation_p.V168I|KIR3DL2_uc002qhk.4_Missense_Mutation_p.V168I			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	168	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.V168I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTCACGCCTCGTTGGACAGAT	0.502													A	55331314	G	A	55331314	3	1	167	1	0	0	0	0	1	0	0	0	8321	1145	40	1		1	KIR3DL2	19	55331314	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	3879296	55331314	3797669	76	11671											
SYT5	6861	broad.mit.edu	37	19	55685985	55685985	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:55685985C>T	uc002qjm.1	-	6	1920	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SYT5_uc002qjp.2_Missense_Mutation_p.G283D|SYT5_uc002qjn.1_Missense_Mutation_p.G287D|SYT5_uc002qjo.1_Missense_Mutation_p.G286D	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	287	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G287D(2)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTTTTTGCCGCCCTGCAG	0.517													T	55685985	C	T	55685985	3	4	167	1	0	0	0	0	1	0	0	0	15474	739	26	3	308	3	SYT5	19	55685985	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	354671	55685985	3442998	77	11672											
ZSCAN1	284312	broad.mit.edu	37	19	58565136	58565136	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:58565136G>A	uc002qrc.1	+	5	1191	c.944G>A	c.(943-945)cGc>cAc	p.R315H		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	315					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R315C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGACCCATCGCGAGGAAGGG	0.647													A	58565136	G	A	58565136	3	1	167	1	0	0	0	0	1	0	0	0	18223	1087	38	1	958	1	ZSCAN1	19	58565136	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	2879151	58565136	563847	78	11673											
EMILIN3	90187	broad.mit.edu	37	20	39990117	39990119	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr20:39990117_39990119delCCT	uc002xjy.1	-	3	2314_2316	c.2090_2092delAGG	c.(2089-2094)gagggt>ggt	p.E697del		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	697						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTGCACGCACCCTCCACTTGTGC	0.665													-	39990119	CCT	-	39990117	7	5	167	1	0	1	0	1	0	0	0	0	5095	623	22	0	212	0	EMILIN3	20	39990117	In_Frame_Del	DEL	CCT	TCGA-19-5954-01A-11D-1696-08		39990117	23035403	79	11674											
ERG	2078	broad.mit.edu	37	21	39795376	39795376	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr21:39795376G>A	uc010gnw.3	-	4	660	c.365C>T	c.(364-366)cCc>cTc	p.P122L	ERG_uc021wjd.1_Missense_Mutation_p.P122L|ERG_uc002yxa.3_Missense_Mutation_p.P115L|ERG_uc011aek.2_Missense_Mutation_p.P23L|ERG_uc010gnv.3_Missense_Mutation_p.P23L|ERG_uc010gnx.3_Missense_Mutation_p.P122L|ERG_uc011ael.2_Missense_Mutation_p.P122L|ERG_uc002yxb.3_Missense_Mutation_p.P122L|ERG_uc011aem.1_Missense_Mutation_p.P115L|ERG_uc002yxc.4_Missense_Mutation_p.P122L	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	122	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CATGTTTGGGGGTGGCATGTG	0.592			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								A	39795376	G	A	39795376	3	1	167	1	0	0	0	0	1	0	0	0	5222	1232	43	3	1127	3	ERG	21	39795376	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08		39795376	8334519	80	11675											
POFUT2	23275	broad.mit.edu	37	21	46689872	46689872	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr21:46689872G>A	uc002zhc.3	-	6	919	c.894C>T	c.(892-894)ttC>ttT	p.F298F	POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Silent_p.F298F	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	298					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GACCCCAGATGAAATCTTTTC	0.572													A	46689872	G	A	46689872	2	1	167	1	0	0	0	0	0	0	0	1	12184	1281	45	3		3	POFUT2	21	46689872	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	6894496	46689872	1440023	81	11676											
MXRA5	25878	broad.mit.edu	37	X	3242355	3242355	+	Silent	SNP	G	G	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:3242355G>T	uc004crg.4	-	4	1528	c.1371C>A	c.(1369-1371)acC>acA	p.T457T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	457						extracellular region				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)				GAGAATACTGGGTGTAGTAGG	0.488													T	3242355	G	T	3242355	2	4	167	1	0	0	0	0	0	0	0	1	10003	1219	43	5		5	MXRA5	23	3242355	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08		3242355	152028205	82	11677											
DCAF8L1	139425	broad.mit.edu	37	X	27999353	27999353	+	Silent	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:27999353C>T	uc004dbx.1	-	0	214	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	33										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGGCCGCCGTCACCGCTG	0.567													T	27999353	C	T	27999353	2	4	167	1	0	0	0	0	0	0	0	1	4277	639	23	2		2	DCAF8L1	23	27999353	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	24756998	27999353	127271207	83	11678											
GPR34	2857	broad.mit.edu	37	X	41555890	41555890	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:41555890G>A	uc022bvc.1	+	0	1004	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.R335H|GPR34_uc004dfq.4_Missense_Mutation_p.R335H|GPR34_uc010nhg.3_Missense_Mutation_p.R335H|GPR34_uc004dfr.4_Missense_Mutation_p.R335H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	335						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTAACATTCGCAAAATAATG	0.373													A	41555890	G	A	41555890	3	1	167	1	0	0	0	0	1	0	0	0	6689	1087	38	1	1006	1	GPR34	23	41555890	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	13556537	41555890	113714670	84	11679											
DGAT2L6	347516	broad.mit.edu	37	X	69420246	69420246	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:69420246T>A	uc004dxx.1	+	3	506	c.409T>A	c.(409-411)Ttt>Att	p.F137I		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	137					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CATCACTCCCTTTGTAGGGAC	0.413													A	69420246	T	A	69420246	3	1	167	1	0	0	0	0	1	0	0	0	4459	1609	56	5	423	5	DGAT2L6	23	69420246	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	27864356	69420246	85850314	85	11680											
CENPI	2491	broad.mit.edu	37	X	100382542	100382542	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:100382542A>G	uc004egx.3	+	9	1232	c.962A>G	c.(961-963)gAa>gGa	p.E321G	CENPI_uc011mrg.2_Missense_Mutation_p.E321G|CENPI_uc004egy.3_Missense_Mutation_p.E321G	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	321					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TACACTAAAGAATGTGGAAAA	0.353													G	100382542	A	G	100382542	3	3	167	1	0	0	0	0	1	0	0	0	3233	246	9	4	996	4	CENPI	23	100382542	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	30962296	100382542	54888018	86	11681											
ARMCX5	64860	broad.mit.edu	37	X	101858012	101858012	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:101858012delC	uc022cbb.1	+	0	943	c.943delC	c.(943-945)cttfs	p.L315fs	ARMCX5_uc004ejg.3_Frame_Shift_Del_p.L315fs|ARMCX5_uc022caw.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc022cax.1_Frame_Shift_Del_p.L315fs|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc022cba.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc004ejh.3_Frame_Shift_Del_p.L315fs	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	315							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTTGATAAACTTGTTGCCCT	0.388													-	101858012	C	-	101858012	7	5	167	1	0	1	0	1	0	0	0	0	962	565	20	0	945	0	ARMCX5	23	101858012	Frame_Shift_Del	DEL	C	TCGA-19-5954-01A-11D-1696-08	1475470	101858012	53412548	87	11682			1	29		2	2	18	N	G_C	4.997173e-05
ARMCX5	64860	broad.mit.edu	37	X	101858029	101858029	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:101858029G>C	uc022cbb.1	+	0	960	c.960G>C	c.(958-960)aaG>aaC	p.K320N	ARMCX5_uc004ejg.3_Missense_Mutation_p.K320N|ARMCX5_uc022caw.1_Missense_Mutation_p.K320N|ARMCX5_uc022cax.1_Missense_Mutation_p.K320N|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.K320N|ARMCX5_uc022cba.1_Missense_Mutation_p.K320N|ARMCX5_uc004ejh.3_Missense_Mutation_p.K320N	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	320							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTCCTTAAGTTAACTAAGG	0.383													C	101858029	G	C	101858029	3	2	167	1	0	0	0	0	1	0	0	0	962	1020	36	5	962	5	ARMCX5	23	101858029	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	17	101858029	53412531	88	11683			1	29		2	2	18	N	G_C	4.997173e-05
SLITRK4	139065	broad.mit.edu	37	X	142717642	142717642	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:142717642C>T	uc022cfm.1	-	0	1283	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	SLITRK4_uc022cfl.1_Missense_Mutation_p.R428H|SLITRK4_uc004fbx.3_Missense_Mutation_p.R428H|SLITRK4_uc004fby.3_Missense_Mutation_p.R428H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	428						integral to membrane		p.R428R(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATATAGCCTGCGTAAATTAGT	0.358													T	142717642	C	T	142717642	3	4	167	1	0	0	0	0	1	0	0	0	14745	768	27	1	1234	1	SLITRK4	23	142717642	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	40859613	142717642	12552918	89	11684											
PASD1	139135	broad.mit.edu	37	X	150828252	150828252	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:150828252C>A	uc004fev.4	+	9	1117	c.785C>A	c.(784-786)tCt>tAt	p.S262Y		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	262						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTAGATTCTGATTCAACT	0.373													A	150828252	C	A	150828252	3	1	167	1	0	0	0	0	1	0	0	0	11471	913	32	5	819	5	PASD1	23	150828252	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	8110610	150828252	4442308	90	11685											
DUSP9	1852	broad.mit.edu	37	X	152915703	152915703	+	Silent	SNP	G	G	A			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:152915703G>A	uc004fhx.4	+	3	1302	c.1098G>A	c.(1096-1098)ccG>ccA	p.P366P	DUSP9_uc004fhy.4_Silent_p.P366P	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	366	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCAACCCGCCCTCCTTCT	0.716													A	152915703	G	A	152915703	2	1	167	1	0	0	0	0	0	0	0	1	4832	1074	38	1		1	DUSP9	23	152915703	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	2087451	152915703	2354857	91	11686											
CLCN6	1185	broad.mit.edu	37	1	11897139	11897139	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:11897139C>T	uc001ate.4	+	18	2177	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	CLCN6_uc010oat.2_Silent_p.N404N|CLCN6_uc010oau.2_Silent_p.N666N	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	688					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTACGGAACATGTGTGATG	0.632													T	11897139	C	T	11897139	2	4	168	1	0	0	0	0	0	0	0	1	3467	477	17	3		3	CLCN6	1	11897139	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		11897139	237353482	1	11687											
PADI3	51702	broad.mit.edu	37	1	17609431	17609431	+	Missense_Mutation	SNP	C	C	T	rs144763474	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:17609431C>T	uc001bai.3	+	15	1892	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	618			R -> Q (in dbSNP:rs35624745).		peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGAGAAGGTGCGGTCCCTGCT	0.602													T	17609431	C	T	17609431	3	4	168	1	0	0	0	0	1	0	0	0	11379	759	27	1	1914	1	PADI3	1	17609431	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	5712292	17609431	231641190	2	11688											
CNR2	1269	broad.mit.edu	37	1	24202118	24202118	+	Translation_Start_Site	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:24202118C>A	uc021oij.1	-						CNR2_uc001bif.3_5'UTR	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.						behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGGGTGGGCCCTTCAGATTCC	0.458													A	24202118	C	A	24202118	1	1	168	1	0	0	0	0	0	0	0	0	3632	696	24	5		5	CNR2	1	24202118	Translation_Start_Site	SNP	C	TCGA-19-5955-01A-11D-1696-08	6592687	24202118	225048503	3	11689											
TMEM57	55219	broad.mit.edu	37	1	25784890	25784890	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:25784890G>A	uc001bkk.3	+	5	863	c.661G>A	c.(661-663)Gga>Aga	p.G221R	TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	221						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				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)		AGCAGCCAAAGGATTACCTGA	0.378													A	25784890	G	A	25784890	3	1	168	1	0	0	0	0	1	0	0	0	16181	1001	35	3	683	3	TMEM57	1	25784890	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	1582772	25784890	223465731	4	11690											
C1orf173	127254	broad.mit.edu	37	1	75037396	75037396	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:75037396C>T	uc001dgg.3	-	13	4217	c.3998G>A	c.(3997-3999)gGa>gAa	p.G1333E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1333	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCCTCCTCCCATGCCCTC	0.562													T	75037396	C	T	75037396	3	4	168	1	0	0	0	0	1	0	0	0	2014	855	30	3	598	3	C1orf173	1	75037396	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	49252506	75037396	174213225	5	11691											
FNDC7	163479	broad.mit.edu	37	1	109270578	109270578	+	Silent	SNP	G	G	A	rs151239518	by1000genomes	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:109270578G>A	uc001dvx.3	+	6	1260	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	FNDC7_uc010ova.2_Silent_p.A187A	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	421	Fibronectin type-III 5.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTACTCCTGCGTGCACCCTTT	0.483													A	109270578	G	A	109270578	2	1	168	1	0	0	0	0	0	0	0	1	5973	1132	40	1		1	FNDC7	1	109270578	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	34233182	109270578	139980043	6	11692											
FLG	2312	broad.mit.edu	37	1	152276186	152276186	+	Missense_Mutation	SNP	G	G	A	rs145171931	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:152276186G>A	uc001ezu.1	-	2	11212	c.11176C>T	c.(11176-11178)Cgg>Tgg	p.R3726W		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3726	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GGCCCAGCCCGTCCATGGGCA	0.607									Ichthyosis				A	152276186	G	A	152276186	3	1	168	1	0	0	0	0	1	0	0	0	5922	1144	40	1	1013	1	FLG	1	152276186	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	43005608	152276186	96974435	7	11693											
NUF2	83540	broad.mit.edu	37	1	163306614	163306614	+	Silent	SNP	G	G	A	rs148215962		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:163306614G>A	uc001gcq.1	+	5	711	c.411G>A	c.(409-411)acG>acA	p.T137T	NUF2_uc001gcr.1_Silent_p.T137T	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	137	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GCCGTGAAACGTATATGGAAT	0.313													A	163306614	G	A	163306614	2	1	168	1	0	0	0	0	0	0	0	1	10747	1132	40	1		1	NUF2	1	163306614	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	11030428	163306614	85944007	8	11694											
PAPPA2	60676	broad.mit.edu	37	1	176734853	176734853	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:176734853T>C	uc001gkz.3	+	14	5367	c.4203T>C	c.(4201-4203)ctT>ctC	p.L1401L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1401	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CATTGCTGCTTGATCATGCTG	0.507													C	176734853	T	C	176734853	2	2	168	1	0	0	0	0	0	0	0	1	11433	1799	63	4		4	PAPPA2	1	176734853	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	13428239	176734853	72515768	9	11695											
SLC45A3	85414	broad.mit.edu	37	1	205632180	205632180	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:205632180G>A	uc001hda.1	-	2	1078	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R81C|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	247					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AAAGCCAAGCGGGCCCGGCAT	0.716			T	"ETV1, ETV5, ELK4, ERG"	prostate								A	205632180	G	A	205632180	3	1	168	1	0	0	0	0	1	0	0	0	14642	1116	39	2	934	2	SLC45A3	1	205632180	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	28897327	205632180	43618441	10	11696											
LEFTY2	7044	broad.mit.edu	37	1	226125177	226125177	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:226125177C>T	uc001hpt.2	-	3	1308	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	LEFTY2_uc010pvk.2_Silent_p.S321S|LEFTY2_uc009xek.2_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	355					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCGCCCCATCCGAGGCACAGC	0.602													T	226125177	C	T	226125177	2	4	168	1	0	0	0	0	0	0	0	1	8716	639	23	2		2	LEFTY2	1	226125177	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	20492997	226125177	23125444	11	11697											
OR2M2	391194	broad.mit.edu	37	1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248343988G>A	uc010pzf.2	+	0	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234H(4)		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)			GGAGAGGGTCGTTGCAAAGCT	0.468													A	248343988	G	A	248343988	3	1	168	1	0	0	0	0	1	0	0	0	11010	1145	40	1	703	1	OR2M2	1	248343988	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	22218811	248343988	906633	12	11698											
OR2T27	403239	broad.mit.edu	37	1	248813409	248813409	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248813409G>A	uc010pzo.2	-	0	777	c.777C>T	c.(775-777)taC>taT	p.Y259Y		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGCAGCACGTATGTGTACA	0.532													A	248813409	G	A	248813409	2	1	168	1	0	0	0	0	0	0	0	1	11021	1140	40	1		1	OR2T27	1	248813409	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	469421	248813409	437212	13	11699											
DCTN1	1639	broad.mit.edu	37	2	74598790	74598790	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:74598790C>T	uc002skx.3	-	7	837	c.519G>A	c.(517-519)gcG>gcA	p.A173A	DCTN1_uc002skv.3_Silent_p.A39A|DCTN1_uc002sku.3_Silent_p.A39A|DCTN1_uc002skw.2_Silent_p.A166A|DCTN1_uc010ffd.3_Silent_p.A153A|DCTN1_uc002sky.3_Silent_p.A136A	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	173	Ser-rich.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CACCTGCTGACGCTGAGCCAG	0.652													T	74598790	C	T	74598790	2	4	168	1	0	0	0	0	0	0	0	1	4306	523	19	1		1	DCTN1	2	74598790	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		74598790	168600583	14	11700											
IL1RL2	8808	broad.mit.edu	37	2	102849423	102849423	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:102849423A>T	uc002tbs.3	+	10	1262	c.1136_splice	c.e10-1	p.D379_splice	IL1RL2_uc002tbt.3_Splice_Site_p.D261_splice	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	379					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCTTTTCAGATGGGAAGCTG	0.507													T	102849423	A	T	102849423	3	4	168	1	0	0	0	0	1	0	0	0	7664	347	12	5	1170	5	IL1RL2	2	102849423	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08	28250633	102849423	140349950	15	11701											
TTN	7273	broad.mit.edu	37	2	179446667	179446667	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:179446667G>A	uc021vsy.1	-	263	58950	c.58725C>T	c.(58723-58725)gaC>gaT	p.D19575D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D13270D|TTN_uc021vta.1_Silent_p.D13203D|TTN_uc021vtb.1_Silent_p.D13078D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20502	Ig-like 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D13078D(1)|p.D13203D(1)|p.D19573D(1)|p.D13270D(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)			CCTTGGATGCGTCACTGGGTT	0.438													A	179446667	G	A	179446667	2	1	168	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179446667	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	76597244	179446667	63752706	16	11702											
TTN	7273	broad.mit.edu	37	2	179666963	179666963	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:179666963G>A	uc021vsy.1	-	2	422	c.197C>T	c.(196-198)aCg>aTg	p.T66M	TTN_uc021vsz.1_Missense_Mutation_p.T66M|TTN_uc021vta.1_Missense_Mutation_p.T66M|TTN_uc021vtb.1_Missense_Mutation_p.T66M|TTN_uc002unb.2_Missense_Mutation_p.T66M|TTN_uc002und.3_Missense_Mutation_p.T66M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	66	Ig-like 1.						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)			GGCGGGGATCGTCAGTTTAGC	0.547													A	179666963	G	A	179666963	3	1	168	1	0	0	0	0	1	0	0	0	16732	1145	40	1	111231	1	TTN	2	179666963	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	220296	179666963	63532410	17	11703											
DCLK3	85443	broad.mit.edu	37	3	36779980	36779980	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:36779980G>A	uc003cgi.2	-	1	662	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	57						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGGGGTCTCGGTCTCCCCAC	0.617													A	36779980	G	A	36779980	2	1	168	1	0	0	0	0	0	0	0	1	4293	1103	39	2		2	DCLK3	3	36779980	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		36779980	161242450	18	11704											
GOLGA4	2803	broad.mit.edu	37	3	37360647	37360647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:37360647C>T	uc003cgv.3	+	11	1867	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Nonsense_Mutation_p.R525*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.R384*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	503	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTTCAGACCCGAGAAAGGGA	0.378													T	37360647	C	T	37360647	4	4	168	1	0	0	0	0	0	1	0	0	6555	644	23	2	1623	2	GOLGA4	3	37360647	Nonsense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	580667	37360647	160661783	19	11705											
VIPR1	7433	broad.mit.edu	37	3	42567437	42567437	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:42567437G>A	uc003clf.2	+	3	475	c.351G>A	c.(349-351)ccG>ccA	p.P117P	VIPR1_uc021wwl.1_Silent_p.P76P|VIPR1_uc011azn.2_Silent_p.P90P|VIPR1_uc011azl.1_Silent_p.P70P|VIPR1_uc011azm.1_5'UTR	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	117					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AGCCTGGCCCGTACCCCATTG	0.662													A	42567437	G	A	42567437	2	1	168	1	0	0	0	0	0	0	0	1	17166	1132	40	1		1	VIPR1	3	42567437	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	5206790	42567437	155454993	20	11706											
GRM2	2912	broad.mit.edu	37	3	51746533	51746533	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:51746533C>T	uc010hlv.3	+	2	734	c.495C>T	c.(493-495)taC>taT	p.Y165Y	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	165					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGATTAGCTACGCCTCTACCA	0.532													T	51746533	C	T	51746533	2	4	168	1	0	0	0	0	0	0	0	1	6797	547	19	1		1	GRM2	3	51746533	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	9179096	51746533	146275897	21	11707											
TRAT1	50852	broad.mit.edu	37	3	108572525	108572525	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:108572525G>A	uc003dxi.1	+	5	506	c.362G>A	c.(361-363)cGt>cAt	p.R121H	TRAT1_uc010hpx.1_Missense_Mutation_p.R84H	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	121					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AAGGGGAAGCGTAGAAAGCCC	0.423													A	108572525	G	A	108572525	3	1	168	1	0	0	0	0	1	0	0	0	16463	1145	40	1	384	1	TRAT1	3	108572525	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	56825992	108572525	89449905	22	11708											
GPR156	165829	broad.mit.edu	37	3	119962857	119962857	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:119962857G>A	uc011bjf.2	-	0	469	c.89C>T	c.(88-90)aCa>aTa	p.T30I	GPR156_uc011bjg.2_Missense_Mutation_p.T30I	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	30						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TACAATTGTTGTCTTGCAGAG	0.537													A	119962857	G	A	119962857	3	1	168	1	0	0	0	0	1	0	0	0	6661	1377	48	3	2391	3	GPR156	3	119962857	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	11390332	119962857	78059573	23	11709											
DBR1	51163	broad.mit.edu	37	3	137890532	137890532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:137890532G>A	uc003erv.3	-	2	500	c.346C>T	c.(346-348)Cga>Tga	p.R116*	DBR1_uc003eru.3_Nonsense_Mutation_p.R65*	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	116						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CTTACACCTCGGTATTTTACC	0.343													A	137890532	G	A	137890532	4	1	168	1	0	0	0	0	0	1	0	0	4257	1124	39	2	1312	2	DBR1	3	137890532	Nonsense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	17927675	137890532	60131898	24	11710											
CLSTN2	64084	broad.mit.edu	37	3	140185512	140185512	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:140185512G>A	uc003etn.3	+	7	1473	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	CLSTN2_uc003etm.2_Missense_Mutation_p.R428Q	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	428					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTTCTCTTGCGGAAGGACTTC	0.542										HNSCC(16;0.037)			A	140185512	G	A	140185512	3	1	168	1	0	0	0	0	1	0	0	0	3562	1116	39	2	1313	2	CLSTN2	3	140185512	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	2294980	140185512	57836918	25	11711											
ZBBX	79740	broad.mit.edu	37	3	167083682	167083682	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:167083682C>A	uc011bpc.2	-	5	602	c.265G>T	c.(265-267)Gtt>Ttt	p.V89F	ZBBX_uc003feq.3_Missense_Mutation_p.V60F|ZBBX_uc003fep.3_Missense_Mutation_p.V89F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	89						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACCTTAACAACATTTCCTTTA	0.294													A	167083682	C	A	167083682	3	1	168	1	0	0	0	0	1	0	0	0	17513	478	17	5	2201	5	ZBBX	3	167083682	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	26898170	167083682	30938748	26	11712											
FRYL	285527	broad.mit.edu	37	4	48559529	48559529	+	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:48559529A>C	uc003gyh.1	-	33	4671	c.4066T>G	c.(4066-4068)Tgg>Ggg	p.W1356G	FRYL_uc003gyk.3_Missense_Mutation_p.W1356G|FRYL_uc003gyg.1_Missense_Mutation_p.W52G|FRYL_uc003gyi.1_Missense_Mutation_p.W245G	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1356					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.W1356G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGAGATCCCCATCCTTCTCCC	0.423													C	48559529	A	C	48559529	3	2	168	1	0	0	0	0	1	0	0	0	6064	217	8	5	5099	5	FRYL	4	48559529	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08		48559529	142594747	27	11713											
CWH43	80157	broad.mit.edu	37	4	49040170	49040170	+	Silent	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:49040170A>C	uc003gyv.3	+	12	1958	c.1776A>C	c.(1774-1776)ctA>ctC	p.L592L	CWH43_uc011bzl.2_Silent_p.L565L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	592					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGATTATCTACAGCTCACTG	0.323													C	49040170	A	C	49040170	2	2	168	1	0	0	0	0	0	0	0	1	4073	378	14	5		5	CWH43	4	49040170	Silent	SNP	A	TCGA-19-5955-01A-11D-1696-08	480641	49040170	142114106	28	11714											
CSN2	1447	broad.mit.edu	37	4	70823249	70823249	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:70823249G>T	uc003hes.4	-	4	431	c.418C>A	c.(418-420)Cat>Aat	p.H140N	CSN2_uc003het.4_Missense_Mutation_p.H139N	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	140				H -> Q (in Ref. 3; CAA34916).	calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGAGGAAGATGCAGATTTTCA	0.507													T	70823249	G	T	70823249	3	4	168	1	0	0	0	0	1	0	0	0	3948	1319	46	5	270	5	CSN2	4	70823249	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	21783079	70823249	120331027	29	11715											
WDFY3	23001	broad.mit.edu	37	4	85719250	85719250	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:85719250C>T	uc003hpd.3	-	17	3242	c.2834G>A	c.(2833-2835)cGt>cAt	p.R945H		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	945						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R945H(2)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTTGCCAAACGTAAAAACTC	0.313													T	85719250	C	T	85719250	3	4	168	1	0	0	0	0	1	0	0	0	17267	536	19	1	7950	1	WDFY3	4	85719250	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	14896001	85719250	105435026	30	11716											
ADAM29	11086	broad.mit.edu	37	4	175898963	175898963	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:175898963G>C	uc003iuc.3	+	4	2957	c.2287G>C	c.(2287-2289)Gtg>Ctg	p.V763L	ADAM29_uc003iud.3_Missense_Mutation_p.V763L|ADAM29_uc010irr.3_Missense_Mutation_p.V763L|ADAM29_uc011cki.2_Missense_Mutation_p.V763L|ADAM29_uc021xuo.1_Missense_Mutation_p.V763L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	763	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V763M(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCAACCTCCTGTGACACCCTC	0.567													C	175898963	G	C	175898963	3	2	168	1	0	0	0	0	1	0	0	0	247	1377	48	5	2289	5	ADAM29	4	175898963	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	90179713	175898963	15255313	31	11717											
PIK3R1	5295	broad.mit.edu	37	5	67591246	67591246	+	Splice_Site	SNP	A	A	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:67591246A>G	uc003jva.3	+	14	2326	c.1746_splice	c.e14-2	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(10)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACTGTTTTTCAGGTGGTTGAC	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591246	A	G	67591246	5	3	168	1	0	0	0	0	0	0	1	0	11918	202	7	4	1924	4	PIK3R1	5	67591246	Splice_Site	SNP	A	TCGA-19-5955-01A-11D-1696-08		67591246	113324014	32	11718											
SLCO6A1	133482	broad.mit.edu	37	5	101709074	101709074	+	Silent	SNP	T	T	C	rs146381310	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:101709074T>C	uc003knn.3	-	12	2314	c.2142A>G	c.(2140-2142)aaA>aaG	p.K714K	SLCO6A1_uc003kno.3_Silent_p.K461K|SLCO6A1_uc003knp.3_Silent_p.K714K|SLCO6A1_uc003knq.3_Silent_p.K652K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	714						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAGTTTCTTCTTTTTTCTTAA	0.274													C	101709074	T	C	101709074	2	2	168	1	0	0	0	0	0	0	0	1	14732	1606	56	4		4	SLCO6A1	5	101709074	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	34117828	101709074	79206186	33	11719											
PCDHAC2	56138	broad.mit.edu	37	5	140249928	140249928	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140249928C>A	uc003lia.2	+	0	2098	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R414S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAGAACGT	0.627													A	140249928	C	A	140249928	3	1	168	1	0	0	0	0	1	0	0	0	11533	652	23	5		5	PCDHAC2	5	140249928	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	38540854	140249928	40665332	34	11720											
PCDHAC2	56138	broad.mit.edu	37	5	140250294	140250294	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140250294G>A	uc003lia.2	+	0	2464	c.1606G>A	c.(1606-1608)Gcg>Acg	p.A536T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A536T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGAGCGCGCGCGATGC	0.672													A	140250294	G	A	140250294	3	1	168	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140250294	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	366	140250294	40664966	35	11721											
PCDHB7	56129	broad.mit.edu	37	5	140553185	140553185	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140553185G>A	uc003lit.3	+	0	943	c.769G>A	c.(769-771)Gtt>Att	p.V257I		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	257	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATAGCCCCGTTGGTTCCAT	0.502													A	140553185	G	A	140553185	3	1	168	1	0	0	0	0	1	0	0	0	11547	1145	40	1	771	1	PCDHB7	5	140553185	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	302891	140553185	40362075	36	11722											
PCDHB14	56122	broad.mit.edu	37	5	140605446	140605446	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140605446G>A	uc003ljb.3	+	0	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348													A	140605446	G	A	140605446	3	1	168	1	0	0	0	0	1	0	0	0	11539	1058	37	2	2371	2	PCDHB14	5	140605446	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	52261	140605446	40309814	37	11723											
BTBD9	114781	broad.mit.edu	37	6	38256068	38256068	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:38256068C>T	uc003ooa.4	-	8	2010	c.1434G>A	c.(1432-1434)ccG>ccA	p.P478P	BTBD9_uc010jwv.3_Silent_p.P448P|BTBD9_uc003ony.4_Silent_p.P410P|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.P478P	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	478					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CAATCATGTACGGTTGTGCCA	0.398													T	38256068	C	T	38256068	2	4	168	1	0	0	0	0	0	0	0	1	1548	523	19	1		1	BTBD9	6	38256068	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		38256068	132858999	38	11724											
PKHD1	5314	broad.mit.edu	37	6	51524416	51524416	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:51524416A>G	uc003pah.1	-	60	10784	c.10508T>C	c.(10507-10509)cTc>cCc	p.L3503P		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3503					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			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)					GGGGCTCTGGAGCTCATGGTA	0.438													G	51524416	A	G	51524416	3	3	168	1	0	0	0	0	1	0	0	0	11971	304	11	4	1744	4	PKHD1	6	51524416	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08	13268348	51524416	119590651	39	11725											
DOPEY1	23033	broad.mit.edu	37	6	83847935	83847935	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:83847935T>C	uc011dyy.2	+	20	4407	c.4147T>C	c.(4147-4149)Ttg>Ctg	p.L1383L	DOPEY1_uc003pjs.1_Silent_p.L1392L|DOPEY1_uc010kbl.1_Silent_p.L1383L|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1392					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAAAGCCATCTTGAAAACTAA	0.383													C	83847935	T	C	83847935	2	2	168	1	0	0	0	0	0	0	0	1	4707	1606	56	4		4	DOPEY1	6	83847935	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	32323519	83847935	87267132	40	11726											
IKZF1	10320	broad.mit.edu	37	7	50468241	50468241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:50468241C>A	uc003tow.4	+	7	1631	c.1476C>A	c.(1474-1476)tgC>tgA	p.C492*	IKZF1_uc022acq.1_Nonsense_Mutation_p.C349*|IKZF1_uc003tpa.4_Nonsense_Mutation_p.C257*|IKZF1_uc022acr.1_Nonsense_Mutation_p.C267*|IKZF1_uc022acs.1_Nonsense_Mutation_p.C222*|IKZF1_uc022act.1_Nonsense_Mutation_p.C395*|IKZF1_uc022acu.1_Nonsense_Mutation_p.C405*|IKZF1_uc003tox.4_Nonsense_Mutation_p.C450*|IKZF1_uc022acv.1_Nonsense_Mutation_p.C353*|IKZF1_uc022acw.1_Nonsense_Mutation_p.C363*|IKZF1_uc022acx.1_Nonsense_Mutation_p.C405*|IKZF1_uc022acy.1_Nonsense_Mutation_p.C299*|IKZF1_uc022acz.1_Nonsense_Mutation_p.C309*|IKZF1_uc011kck.2_Nonsense_Mutation_p.C405*|IKZF1_uc003toy.4_Nonsense_Mutation_p.C450*|IKZF1_uc003toz.4_Nonsense_Mutation_p.C462*|IKZF1_uc010kyx.3_Nonsense_Mutation_p.C232*	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	492					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CTTTTGAGTGCAACATGTGCG	0.592			"D,T"	BCL6	"ALL, DLBCL"								A	50468241	C	A	50468241	4	1	168	1	0	0	0	0	0	1	0	0	7614	718	25	5	1502	5	IKZF1	7	50468241	Nonsense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		50468241	108670422	41	11727											
BAIAP2L1	55971	broad.mit.edu	37	7	97944874	97944874	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:97944874T>C	uc003upj.3	-	6	800	c.537A>G	c.(535-537)gcA>gcG	p.A179A		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	179	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TGCAACCATCTGCAATGAATT	0.358													C	97944874	T	C	97944874	2	2	168	1	0	0	0	0	0	0	0	1	1302	1567	55	4		4	BAIAP2L1	7	97944874	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	47476633	97944874	61193789	42	11728											
CLDN15	24146	broad.mit.edu	37	7	100877603	100877603	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:100877603T>C	uc003uyg.2	-	1	703	c.338A>G	c.(337-339)aAa>aGa	p.K113R	CLDN15_uc003uyh.2_Missense_Mutation_p.K113R|CLDN15_uc003uyi.3_3'UTR|CLDN15_uc022aja.1_3'UTR	NM_014343	NP_001172009	P56746	CLD15_HUMAN	Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.	113					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CAGCTTGGCTTTCCTGGAGAG	0.662													C	100877603	T	C	100877603	3	2	168	1	0	0	0	0	1	0	0	0	3476	1841	64	4	364	4	CLDN15	7	100877603	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	2932729	100877603	58261060	43	11729											
GRM8	2918	broad.mit.edu	37	7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:126409978C>T	uc003vlr.2	-	5	1609	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R433Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R154Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	433					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGTACTCATTCGTGGACAAAG	0.403										HNSCC(24;0.065)			T	126409978	C	T	126409978	3	4	168	1	0	0	0	0	1	0	0	0	6803	884	31	2	1498	2	GRM8	7	126409978	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	25532375	126409978	32728685	44	11730											
STC1	6781	broad.mit.edu	37	8	23702306	23702306	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:23702306G>A	uc003xdw.1	-	3	1005	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	241					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.R241H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGGGATGTGCGTTTGATGTGG	0.507													A	23702306	G	A	23702306	3	1	168	1	0	0	0	0	1	0	0	0	15274	1145	40	1	26	1	STC1	8	23702306	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08		23702306	122661716	45	11731											
EBF2	64641	broad.mit.edu	37	8	25718727	25718727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:25718727G>A	uc003xes.2	-	12	1445	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	394					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCTGCGGCTCGCTTCAAAATG	0.488													A	25718727	G	A	25718727	4	1	168	1	0	0	0	0	0	1	0	0	4881	1095	38	1	563	1	EBF2	8	25718727	Nonsense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	2016421	25718727	120645295	46	11732											
LYN	4067	broad.mit.edu	37	8	56866431	56866431	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:56866431T>C	uc003xsk.4	+	7	960	c.678T>C	c.(676-678)tgT>tgC	p.C226C	LYN_uc003xsl.4_Silent_p.C205C	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	226	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AGAAGGCTTGTATTAGTCCCA	0.478													C	56866431	T	C	56866431	2	2	168	1	0	0	0	0	0	0	0	1	9107	1644	57	4		4	LYN	8	56866431	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	31147704	56866431	89497591	47	11733											
PRDM14	63978	broad.mit.edu	37	8	70980585	70980585	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:70980585T>C	uc003xym.3	-	3	994	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	264	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CACCAAAATGTGGGACTTCAC	0.488													C	70980585	T	C	70980585	2	2	168	1	0	0	0	0	0	0	0	1	12455	1683	59	4		4	PRDM14	8	70980585	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	14114154	70980585	75383437	48	11734											
PABPC1	26986	broad.mit.edu	37	8	101730507	101730507	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:101730507C>T	uc003yjs.1	-	2	698	c.194_splice	c.e2-1	p.A65_splice	PABPC1_uc011lhc.1_Splice_Site_p.A65_splice|PABPC1_uc011lhd.1_Splice_Site_p.A20_splice|PABPC1_uc003yjt.1_Splice_Site_p.A65_splice|PABPC1_uc003yju.2_Splice_Site	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	65	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAGCACGCTCCGCTGCAGGAA	0.433													T	101730507	C	T	101730507	2	4	168	1	0	0	0	0	0	0	0	1	11363	666	23	2		2	PABPC1	8	101730507	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	30749922	101730507	44633515	49	11735											
RIMS2	9699	broad.mit.edu	37	8	104778688	104778688	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:104778688T>C	uc003ylp.3	+	2	760	c.621T>C	c.(619-621)caT>caC	p.H207H		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	238					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			GTCGATCTCATGGGCTCACAA	0.443										HNSCC(12;0.0054)			C	104778688	T	C	104778688	2	2	168	1	0	0	0	0	0	0	0	1	13368	1461	51	4		4	RIMS2	8	104778688	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	3048181	104778688	41585334	50	11736											
FREM1	158326	broad.mit.edu	37	9	14775892	14775892	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:14775892C>T	uc003zlm.3	-	25	5568	c.4752G>A	c.(4750-4752)ggG>ggA	p.G1584G	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.G120G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1584					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGAGTCCCCTCCTGAGT	0.512													T	14775892	C	T	14775892	2	4	168	1	0	0	0	0	0	0	0	1	6044	610	22	3		3	FREM1	9	14775892	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		14775892	126437539	51	11737											
RRAGA	10670	broad.mit.edu	37	9	19050342	19050342	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:19050342G>A	uc003znj.3	+	0	971	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.	229				E -> G (in Ref. 2; AAB63255).	apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CCACCGGTTTGAGAAGATCAG	0.473													A	19050342	G	A	19050342	3	1	168	1	0	0	0	0	1	0	0	0	13672	1291	45	3	687	3	RRAGA	9	19050342	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	4274450	19050342	122163089	52	11738											
TAF1L	138474	broad.mit.edu	37	9	32632340	32632340	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:32632340G>A	uc003zrg.1	-	0	3328	c.3238C>T	c.(3238-3240)Cgt>Tgt	p.R1080C	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1080					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.R1080S(2)|p.R1080H(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)		TCTTTGTAACGCTCTTGATGC	0.473													A	32632340	G	A	32632340	3	1	168	1	0	0	0	0	1	0	0	0	15520	1087	38	1	2246	1	TAF1L	9	32632340	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	13581998	32632340	108581091	53	11739											
FGD3	89846	broad.mit.edu	37	9	95738835	95738835	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:95738835C>T	uc004asz.2	+	2	825	c.297C>T	c.(295-297)ggC>ggT	p.G99G	FGD3_uc004asw.2_Silent_p.G99G|FGD3_uc004asx.2_Silent_p.G99G	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	99					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGGAGGCTGGCCCAAGCCCCA	0.657													T	95738835	C	T	95738835	2	4	168	1	0	0	0	0	0	0	0	1	5834	726	26	3		3	FGD3	9	95738835	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	63106495	95738835	45474596	54	11740											
ASTN2	23245	broad.mit.edu	37	9	119488220	119488220	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:119488220T>C	uc004bjt.2	-	14	2584	c.2483A>G	c.(2482-2484)aAt>aGt	p.N828S	ASTN2_uc022bml.1_Missense_Mutation_p.N524S|ASTN2_uc022bmm.1_Missense_Mutation_p.N528S	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	879						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTTGAGAACATTAGTGAAGCC	0.542													C	119488220	T	C	119488220	3	2	168	1	0	0	0	0	1	0	0	0	1065	1493	52	4	1647	4	ASTN2	9	119488220	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	23749385	119488220	21725211	55	11741											
FCN2	2220	broad.mit.edu	37	9	137777089	137777089	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:137777089G>A	uc004cfg.1	+	4	316	c.306G>A	c.(304-306)ccG>ccA	p.P102P	FCN2_uc004cfh.1_Silent_p.P64P	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	102	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TCCCAGGCCCGCGTACCTGCA	0.662													A	137777089	G	A	137777089	2	1	168	1	0	0	0	0	0	0	0	1	5792	1074	38	1		1	FCN2	9	137777089	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	18288869	137777089	3436342	56	11742											
MYO3A	53904	broad.mit.edu	37	10	26315330	26315330	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:26315330delG	uc001isn.2	+	9	1182	c.822delG	c.(820-822)aagfs	p.K274fs	MYO3A_uc009xko.1_Frame_Shift_Del_p.K274fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Del_p.K274fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	274	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			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						ATTATGAAAAGCGTCCAACAG	0.328													-	26315330	G	-	26315330	7	5	168	1	0	1	0	1	0	0	0	0	10076	962	34	0	852	0	MYO3A	10	26315330	Frame_Shift_Del	DEL	G	TCGA-19-5955-01A-11D-1696-08		26315330	109219417	57	11743											
PTEN	5728	broad.mit.edu	37	10	89725130	89725130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:89725130delC	uc001kfb.3	+	8	2145	c.1113delC	c.(1111-1113)gacfs	p.D371fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	371					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGTTAGTGACAATGAACCTG	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89725130	C	-	89725130	7	5	168	1	0	1	0	1	0	0	0	0	12738	477	17	0	1147	0	PTEN	10	89725130	Frame_Shift_Del	DEL	C	TCGA-19-5955-01A-11D-1696-08	63409800	89725130	45809617	58	11744											
HTR7	3363	broad.mit.edu	37	10	92508680	92508680	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:92508680C>T	uc001kha.3	-	1	1454	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	HTR7_uc001kgz.3_Missense_Mutation_p.R404Q|HTR7_uc001khb.3_Missense_Mutation_p.R404Q	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	404					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.R404R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GTTGATATTCCGGTACTGGCA	0.507													T	92508680	C	T	92508680	3	4	168	1	0	0	0	0	1	0	0	0	7452	652	23	2	244	2	HTR7	10	92508680	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	2783550	92508680	43026067	59	11745											
OR4D10	390197	broad.mit.edu	37	11	59245250	59245250	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr11:59245250G>A	uc001nnz.1	+	0	348	c.348G>A	c.(346-348)tcG>tcA	p.S116S		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTCTTTCGGTGATGGCAT	0.473													A	59245250	G	A	59245250	2	1	168	1	0	0	0	0	0	0	0	1	11054	1103	39	2		2	OR4D10	11	59245250	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		59245250	75761266	60	11746											
ATM	472	broad.mit.edu	37	11	108199882	108199882	+	Frame_Shift_Del	DEL	G	G	-	rs145747513	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr11:108199882delG	uc001pkb.1	+	48	7609	c.7224delG	c.(7222-7224)tcgfs	p.S2408fs	ATM_uc009yxr.1_Frame_Shift_Del_p.S2408fs|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Frame_Shift_Del_p.S1060fs|ATM_uc001pkg.1_Frame_Shift_Del_p.S765fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2408	FAT.		S -> L (in a colorectal adenocarcinoma sample; somatic mutation).		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.S2408L(1)		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)		TGAAATCATCGGAATTTGAAA	0.373			"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)			-	108199882	G	-	108199882	7	5	168	1	0	1	0	1	0	0	0	0	1109	1103	39	0	7414	0	ATM	11	108199882	Frame_Shift_Del	DEL	G	TCGA-19-5955-01A-11D-1696-08	48954632	108199882	26806634	61	11747											
ST8SIA1	6489	broad.mit.edu	37	12	22354787	22354787	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:22354787C>T	uc001rfo.4	-	4	1252	c.770G>A	c.(769-771)cGt>cAt	p.R257H	ST8SIA1_uc009zix.3_Missense_Mutation_p.R114H	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	257					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.R257C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TCCAATGCTACGCAGAAAGTT	0.478													T	22354787	C	T	22354787	3	4	168	1	0	0	0	0	1	0	0	0	15230	536	19	1	304	1	ST8SIA1	12	22354787	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		22354787	111497108	62	11748											
SRGAP1	57522	broad.mit.edu	37	12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:64502748G>A	uc010ssp.1	+	15	1906	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	SRGAP1_uc001srv.2_Missense_Mutation_p.R554H	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	617	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCACATCCGCAAACTCCTC	0.463													A	64502748	G	A	64502748	3	1	168	1	0	0	0	0	1	0	0	0	15144	1087	38	1	1912	1	SRGAP1	12	64502748	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	42147961	64502748	69349147	63	11749											
GRIP1	23426	broad.mit.edu	37	12	66765507	66765507	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:66765507C>T	uc001stk.3	-	21	3064	c.2823G>A	c.(2821-2823)gaG>gaA	p.E941E	GRIP1_uc010sta.1_Silent_p.E885E|GRIP1_uc001stj.3_Silent_p.E708E|GRIP1_uc001stm.3_Silent_p.E926E|GRIP1_uc001stl.1_Silent_p.E818E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	993					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			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)		GAGACATGATCTCCTTTATTT	0.493													T	66765507	C	T	66765507	2	4	168	1	0	0	0	0	0	0	0	1	6787	912	32	3		3	GRIP1	12	66765507	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	2262759	66765507	67086388	64	11750											
C12orf43	64897	broad.mit.edu	37	12	121444130	121444130	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:121444130C>T	uc009zxa.1	-	3	471	c.448G>A	c.(448-450)Gat>Aat	p.D150N	C12orf43_uc001tzh.1_Missense_Mutation_p.D119N|C12orf43_uc010szo.1_Missense_Mutation_p.D77N|C12orf43_uc010szp.1_Missense_Mutation_p.D119N|C12orf43_uc001tzi.1_Missense_Mutation_p.D119N	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	119	Poly-Ser.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCACCATCATCCTCCAAAGCG	0.403													T	121444130	C	T	121444130	3	4	168	1	0	0	0	0	1	0	0	0	1689	855	30	3	445	3	C12orf43	12	121444130	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	54678623	121444130	12407765	65	11751											
RNF17	56163	broad.mit.edu	37	13	25419167	25419167	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr13:25419167T>A	uc001upr.3	+	21	3092	c.3051T>A	c.(3049-3051)aaT>aaA	p.N1017K	RNF17_uc010tdd.1_Missense_Mutation_p.N876K|RNF17_uc010tde.2_Missense_Mutation_p.N1017K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N956K|RNF17_uc010aac.3_Missense_Mutation_p.N215K|RNF17_uc010aad.3_Missense_Mutation_p.N69K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1017	Tudor 2.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)		TTGAAGAAAATCTAAAGACAA	0.308													A	25419167	T	A	25419167	3	1	168	1	0	0	0	0	1	0	0	0	13461	1432	50	5	3137	5	RNF17	13	25419167	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08		25419167	89750711	66	11752											
TEP1	7011	broad.mit.edu	37	14	20873722	20873722	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:20873722C>G	uc001vxe.3	-	3	798	c.758G>C	c.(757-759)tGc>tCc	p.C253S	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.C253S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	253	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			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)		CAGAGTAGAGCACAGCAAGCT	0.468													G	20873722	C	G	20873722	3	3	168	1	0	0	0	0	1	0	0	0	15756	710	25	5	7333	5	TEP1	14	20873722	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		20873722	86475818	67	11753	15	2									
TEP1	7011	broad.mit.edu	37	14	20873724	20873724	+	Silent	SNP	C	C	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:20873724C>G	uc001vxe.3	-	3	796	c.756G>C	c.(754-756)ctG>ctC	p.L252L	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L252L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	252	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			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)		GAGTAGAGCACAGCAAGCTCA	0.463													G	20873724	C	G	20873724	2	3	168	1	0	0	0	0	0	0	0	1	15756	465	17	5		5	TEP1	14	20873724	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	2	20873724	86475816	68	11754	15	2									
NOVA1	4857	broad.mit.edu	37	14	26941562	26941562	+	Silent	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:26941562A>C	uc001wqa.3	-	4	903	c.117T>G	c.(115-117)tcT>tcG	p.S39S	NOVA1_uc001wpy.3_Silent_p.S161S|NOVA1_uc001wpz.3_Intron|NOVA1_uc001wqb.3_Silent_p.S161S	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	164					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GATCAGATGGAGAGGACTTGG	0.428													C	26941562	A	C	26941562	2	2	168	1	0	0	0	0	0	0	0	1	10554	291	11	5		5	NOVA1	14	26941562	Silent	SNP	A	TCGA-19-5955-01A-11D-1696-08	6067838	26941562	80407978	69	11755											
RTN1	6252	broad.mit.edu	37	14	60212931	60212931	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:60212931C>G	uc001xen.1	-	1	719	c.510G>C	c.(508-510)atG>atC	p.M170I		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	170					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGCAGGAGTCATCTCTATTC	0.512													G	60212931	C	G	60212931	3	3	168	1	0	0	0	0	1	0	0	0	13725	826	29	5	1917	5	RTN1	14	60212931	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	33271369	60212931	47136609	70	11756											
RTN1	6252	broad.mit.edu	37	14	60213169	60213169	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:60213169T>C	uc001xen.1	-	1	481	c.272A>G	c.(271-273)cAc>cGc	p.H91R		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	91					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGAGAAGGTGTGGTCCATGGC	0.478													C	60213169	T	C	60213169	3	2	168	1	0	0	0	0	1	0	0	0	13725	1696	59	4	2155	4	RTN1	14	60213169	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	238	60213169	47136371	71	11757											
SYNE2	23224	broad.mit.edu	37	14	64430685	64430685	+	Silent	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:64430685T>C	uc001xgl.3	+	9	1187	c.957T>C	c.(955-957)gaT>gaC	p.D319D	SYNE2_uc001xgm.3_Silent_p.D319D|SYNE2_uc021ruh.1_Silent_p.D319D	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	319					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			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)		TGCTAAAGGATTCAGAGAATG	0.308													C	64430685	T	C	64430685	2	2	168	1	0	0	0	0	0	0	0	1	15443	1490	52	4		4	SYNE2	14	64430685	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	4217516	64430685	42918855	72	11758											
NEDD4	4734	broad.mit.edu	37	15	56132880	56132880	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr15:56132880G>A	uc002adj.3	-	15	3441	c.3141C>T	c.(3139-3141)aaC>aaT	p.N1047N	NEDD4_uc002adl.3_Silent_p.N628N|NEDD4_uc002adi.3_Silent_p.N975N|NEDD4_uc010ugj.2_Silent_p.N1031N|NEDD4_uc010bfm.3_Silent_p.N1030N|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1047	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTGATCTTCGTTACACAATC	0.338													A	56132880	G	A	56132880	2	1	168	1	0	0	0	0	0	0	0	1	10310	1136	40	1		1	NEDD4	15	56132880	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		56132880	46398512	73	11759											
HS3ST6	64711	broad.mit.edu	37	16	1962204	1962204	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr16:1962204C>A	uc002cnf.3	-	1	323	c.323G>T	c.(322-324)aGt>aTt	p.S108I	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	108										endometrium(2)|lung(2)	4						GGGCATCAGACTCCTGCGGGA	0.706													A	1962204	C	A	1962204	3	1	168	1	0	0	0	0	1	0	0	0	7369	565	20	5	616	5	HS3ST6	16	1962204	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		1962204	88392549	74	11760											
PHF12	57649	broad.mit.edu	37	17	27240276	27240276	+	Missense_Mutation	SNP	G	G	A	rs141809044		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:27240276G>A	uc002hdg.1	-	8	1843	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	PHF12_uc010wbb.1_Missense_Mutation_p.A420V|PHF12_uc002hdi.1_Missense_Mutation_p.A434V|PHF12_uc002hdj.1_Missense_Mutation_p.A438V|PHF12_uc010crw.1_Missense_Mutation_p.A141V|PHF12_uc002hdh.1_Missense_Mutation_p.A221V	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	438	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	p.A438A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCACTGGAGCGCAACAACACT	0.532													A	27240276	G	A	27240276	3	1	168	1	0	0	0	0	1	0	0	0	11823	1087	38	1	1755	1	PHF12	17	27240276	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08		27240276	53954934	75	11761											
ACACA	31	broad.mit.edu	37	17	35633950	35633950	+	Silent	SNP	A	A	G			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:35633950A>G	uc002hnm.3	-	6	858	c.667T>C	c.(667-669)Ttg>Ctg	p.L223L	ACACA_uc002hnk.3_Silent_p.L145L|ACACA_uc002hnl.3_Silent_p.L165L|ACACA_uc002hnn.3_Silent_p.L223L|ACACA_uc002hno.3_Silent_p.L260L|ACACA_uc010cuz.3_Silent_p.L223L|ACACA_uc002hnq.2_Silent_p.L145L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	223	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATTTTTCAAGAGAAGTTCC	0.403													G	35633950	A	G	35633950	2	3	168	1	0	0	0	0	0	0	0	1	106	69	3	4		4	ACACA	17	35633950	Silent	SNP	A	TCGA-19-5955-01A-11D-1696-08	8393674	35633950	45561260	76	11762											
KRTAP4-7	100132476	broad.mit.edu	37	17	39240673	39240673	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:39240673C>T	uc010wfn.2	+	0	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCTGTGAGACGACctgctgc	0.652													T	39240673	C	T	39240673	3	4	168	1	0	0	0	0	1	0	0	0	8555	536	19	1	217	1	KRTAP4-7	17	39240673	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	3606723	39240673	41954537	77	11763											
COL1A1	1277	broad.mit.edu	37	17	48263379	48263379	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:48263379G>A	uc002iqm.3	-	49	4134	c.4008C>T	c.(4006-4008)ttC>ttT	p.F1336F	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1336	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGCCATACTCGAACTGCAGGG	0.637			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						A	48263379	G	A	48263379	2	1	168	1	0	0	0	0	0	0	0	1	3677	1049	37	2		2	COL1A1	17	48263379	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	9022706	48263379	32931831	78	11764											
ABCC3	8714	broad.mit.edu	37	17	48757178	48757178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:48757178G>A	uc002isl.3	+	25	3805	c.3725G>A	c.(3724-3726)tGg>tAg	p.W1242*	ABCC3_uc002isn.3_5'UTR	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1242	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTCTGAACTGGATGATACGA	0.517													A	48757178	G	A	48757178	4	1	168	1	0	0	0	0	0	1	0	0	54	1357	47	3	3911	3	ABCC3	17	48757178	Nonsense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	493799	48757178	32438032	79	11765											
SOX9	6662	broad.mit.edu	37	17	70120351	70120351	+	Silent	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:70120351C>T	uc002jiw.3	+	2	1725	c.1353C>T	c.(1351-1353)taC>taT	p.Y451Y		NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	451					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCAGCTCCTACTACAGCCACG	0.637													T	70120351	C	T	70120351	2	4	168	1	0	0	0	0	0	0	0	1	14958	576	20	3		3	SOX9	17	70120351	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	21363173	70120351	11074859	80	11766											
SEPT9	10801	broad.mit.edu	37	17	75398771	75398771	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:75398771C>T	uc002jts.4	+	2	833	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SEPT9_uc010wtk.2_Missense_Mutation_p.P217L|SEPT9_uc002jtt.4_Missense_Mutation_p.P72L|SEPT9_uc002jtu.4_Missense_Mutation_p.P218L|SEPT9_uc002jtv.3_Missense_Mutation_p.P229L|SEPT9_uc002jtw.3_Missense_Mutation_p.P72L|SEPT9_uc002jtx.1_Missense_Mutation_p.P72L|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	236					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	p.A235V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GAGGCTACACCCCGGAGCCAG	0.627													T	75398771	C	T	75398771	3	4	168	1	0	0	0	0	1	0	0	0	14071	623	22	3	802	3	SEPT9	17	75398771	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	5278420	75398771	5796439	81	11767											
GAA	2548	broad.mit.edu	37	17	78083809	78083809	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:78083809G>A	uc002jxp.3	+	8	1759	c.1392G>A	c.(1390-1392)agG>agA	p.R464R	GAA_uc002jxo.3_Silent_p.R464R|GAA_uc002jxq.3_Silent_p.R464R	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	464					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GTCTGCGGAGGGGGGTTTTCA	0.657													A	78083809	G	A	78083809	2	1	168	1	0	0	0	0	0	0	0	1	6147	1223	43	3		3	GAA	17	78083809	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	2685038	78083809	3111401	82	11768											
SMCHD1	23347	broad.mit.edu	37	18	2700844	2700844	+	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr18:2700844A>C	uc002klm.4	+	11	1764	c.1575A>C	c.(1573-1575)aaA>aaC	p.K525N	SMCHD1_uc002klk.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	525					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCACAAATAAATTGACGTTTA	0.338													C	2700844	A	C	2700844	3	2	168	1	0	0	0	0	1	0	0	0	14788	98	4	5	1621	5	SMCHD1	18	2700844	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08		2700844	75376404	83	11769											
CIDEA	1149	broad.mit.edu	37	18	12274238	12274238	+	Silent	SNP	C	C	T	rs143526030	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr18:12274238C>T	uc002kqt.4	+	3	542	c.477C>T	c.(475-477)taC>taT	p.Y159Y	CIDEA_uc002kqu.4_Silent_p.Y193Y|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	159					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CCGTGTCCTACGACATCCGGT	0.587													T	12274238	C	T	12274238	2	4	168	1	0	0	0	0	0	0	0	1	3425	547	19	1		1	CIDEA	18	12274238	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	9573394	12274238	65803010	84	11770											
TICAM1	148022	broad.mit.edu	37	19	4817811	4817811	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:4817811G>A	uc002mbi.3	-	1	830	c.579C>T	c.(577-579)tcC>tcT	p.S193S	TICAM1_uc021unj.1_Silent_p.S193S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	193					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGGATCGCAGGGAGCACCCTT	0.652													A	4817811	G	A	4817811	2	1	168	1	0	0	0	0	0	0	0	1	15889	1219	43	3		3	TICAM1	19	4817811	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		4817811	54311172	85	11771											
MUC16	94025	broad.mit.edu	37	19	9058146	9058146	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:9058146T>C	uc002mkp.3	-	2	29504	c.29300A>G	c.(29299-29301)aAg>aGg	p.K9767R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9769	Ser-rich.|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						TTCTGTAGTCTTCACCAGGCC	0.493													C	9058146	T	C	9058146	3	2	168	1	0	0	0	0	1	0	0	0	9973	1609	56	4	14551	4	MUC16	19	9058146	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	4240335	9058146	50070837	86	11772											
MUC16	94025	broad.mit.edu	37	19	9084687	9084687	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:9084687G>A	uc002mkp.3	-	0	7332	c.7128C>T	c.(7126-7128)acC>acT	p.T2376T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2376	Ser-rich.|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						AAGCTATGGAGGTGTTGATCA	0.438													A	9084687	G	A	9084687	2	1	168	1	0	0	0	0	0	0	0	1	9973	987	35	3		3	MUC16	19	9084687	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	26541	9084687	50044296	87	11773											
IL28B	282617	broad.mit.edu	37	19	39734655	39734655	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:39734655C>T	uc010xut.2	-	2	403	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	IL28B_uc010xuu.2_Missense_Mutation_p.R134Q	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	134					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACACAGGCCCGGAGCTGGGA	0.667													T	39734655	C	T	39734655	3	4	168	1	0	0	0	0	1	0	0	0	7683	652	23	2	200	2	IL28B	19	39734655	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	30649968	39734655	19394328	88	11774											
KLC3	147700	broad.mit.edu	37	19	45853908	45853908	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:45853908C>T	uc002pbg.1	+	9	1424	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	KLC3_uc002pbf.1_Missense_Mutation_p.R428C|KLC3_uc010ejy.1_Missense_Mutation_p.R427C	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	428						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCCTTCGCCGCAGCAGCTC	0.692													T	45853908	C	T	45853908	3	4	168	1	0	0	0	0	1	0	0	0	8335	652	23	2	1320	2	KLC3	19	45853908	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	6119253	45853908	13275075	89	11775											
TMEM143	55260	broad.mit.edu	37	19	48845929	48845929	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:48845929C>T	uc002pix.1	-	5	842	c.833G>A	c.(832-834)cGc>cAc	p.R278H	TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Missense_Mutation_p.R213H|TMEM143_uc010elw.1_Missense_Mutation_p.R178H|TMEM143_uc010xzo.1_Missense_Mutation_p.R68H|TMEM143_uc002piy.1_Missense_Mutation_p.R243H|Mir_324_uc021uws.1_5'Flank	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	278						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GAGCAGGGCGCGCTGCAGGGT	0.637													T	48845929	C	T	48845929	3	4	168	1	0	0	0	0	1	0	0	0	16054	768	27	1	558	1	TMEM143	19	48845929	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	2992021	48845929	10283054	90	11776											
TMEM150B	284417	broad.mit.edu	37	19	55828201	55828201	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:55828201G>A	uc010esw.1	-	6	631	c.458C>T	c.(457-459)cCc>cTc	p.P153L	TMEM150B_uc010yfu.1_Missense_Mutation_p.P153L|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	153						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CAGGCGGAGGGGCCCAATCCA	0.617													A	55828201	G	A	55828201	3	1	168	1	0	0	0	0	1	0	0	0	16065	1232	43	3	251	3	TMEM150B	19	55828201	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	6982272	55828201	3300782	91	11777											
SIRPD	128646	broad.mit.edu	37	20	1517818	1517818	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr20:1517818C>T	uc002wfi.3	-	2	604	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	187						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TCCCAGCAGCCGGAGGCAGCA	0.612													T	1517818	C	T	1517818	3	4	168	1	0	0	0	0	1	0	0	0	14335	652	23	2	41	2	SIRPD	20	1517818	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		1517818	61507702	92	11778											
C20orf132	140699	broad.mit.edu	37	20	35776290	35776290	+	Missense_Mutation	SNP	A	A	C			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr20:35776290A>C	uc010zvu.2	-	10	1188	c.1097T>G	c.(1096-1098)cTt>cGt	p.L366R	C20orf132_uc002xgk.3_Missense_Mutation_p.L49R|C20orf132_uc002xgm.2_Missense_Mutation_p.L366R|C20orf132_uc002xgn.2_Missense_Mutation_p.L331R	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	251								p.R366R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TAGGTGTCCAAGTCTTTGGAA	0.478													C	35776290	A	C	35776290	3	2	168	1	0	0	0	0	1	0	0	0	2086	72	3	5	2103	5	C20orf132	20	35776290	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08	34258472	35776290	27249230	93	11779											
PLXNB2	23654	broad.mit.edu	37	22	50717405	50717405	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr22:50717405G>A	uc003bkv.4	-	27	4518	c.4425C>T	c.(4423-4425)gaC>gaT	p.D1475D	PLXNB2_uc003bkt.1_Silent_p.D267D|PLXNB2_uc003bku.1_Silent_p.D460D	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1475					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGGATGGCGTCCACTCCCT	0.622													A	50717405	G	A	50717405	2	1	168	1	0	0	0	0	0	0	0	1	12124	1136	40	1		1	PLXNB2	22	50717405	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		50717405	587161	94	11780											
PIM2	11040	broad.mit.edu	37	X	48771532	48771532	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:48771532G>A	uc004dls.3	-	5	1114	c.812C>T	c.(811-813)cCt>cTt	p.P271L	SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	271	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						TCGGGAAGAAGGTTTGGGGGC	0.602													A	48771532	G	A	48771532	3	1	168	1	0	0	0	0	1	0	0	0	11928	1000	35	3	127	3	PIM2	23	48771532	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08		48771532	106499028	95	11781											
ATP7A	538	broad.mit.edu	37	X	77243835	77243835	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:77243835C>A	uc004ecx.4	+	2	378	c.218C>A	c.(217-219)gCt>gAt	p.A73D	ATP7A_uc004ecw.2_Missense_Mutation_p.A73D	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	73	HMA 1.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GGCTTTGATGCTGTTATCCAT	0.423													A	77243835	C	A	77243835	3	1	168	1	0	0	0	0	1	0	0	0	1190	797	28	5	224	5	ATP7A	23	77243835	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	28472303	77243835	78026725	96	11782											
STAG2	10735	broad.mit.edu	37	X	123220476	123220476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:123220476C>T	uc004eua.3	+	29	3537	c.3133C>T	c.(3133-3135)Cga>Tga	p.R1045*	STAG2_uc004etz.4_Nonsense_Mutation_p.R1045*|STAG2_uc004eub.3_Nonsense_Mutation_p.R1045*|STAG2_uc004euc.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eud.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eue.3_Nonsense_Mutation_p.R1045*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	1045					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R1045*(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATGTCTTACCGAAATTCTTT	0.433													T	123220476	C	T	123220476	4	4	168	1	0	0	0	0	0	1	0	0	15242	644	23	2	3243	2	STAG2	23	123220476	Nonsense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	45976641	123220476	32050084	97	11783											
L1CAM	3897	broad.mit.edu	37	X	153129351	153129351	+	Silent	SNP	G	G	A			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:153129351G>A	uc004fjb.3	-	24	3552	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	L1CAM_uc004fjc.3_Silent_p.G1148G|L1CAM_uc010nuo.3_Silent_p.G1143G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1148					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					AGTATTTGCCGCCCTTGCTGC	0.627													A	153129351	G	A	153129351	2	1	168	1	0	0	0	0	0	0	0	1	8588	1074	38	1		1	L1CAM	23	153129351	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	29908875	153129351	2141209	98	11784											
ZNF642	339559	broad.mit.edu	37	1	40960711	40960711	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr1:40960711G>A	uc010ojk.2	+	5	858	c.564G>A	c.(562-564)acG>acA	p.T188T	ZNF642_uc001cfo.3_Silent_p.T187T|ZNF642_uc009vwb.3_Silent_p.T187T	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TTTATTCCACGTTGAGAAAAG	0.398													A	40960711	G	A	40960711	2	1	169	1	0	0	0	0	0	0	0	1	18055	1132	40	1		1	ZNF642	1	40960711	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08		40960711	208289910	1	11785											
LRPPRC	10128	broad.mit.edu	37	2	44152273	44152273	+	Silent	SNP	C	C	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:44152273C>A	uc002rtr.2	-	26	2887	c.2829G>T	c.(2827-2829)gtG>gtT	p.V943V	LRPPRC_uc010yob.1_Silent_p.V843V	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	943					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTGTCAGCTCCACTAATTTTT	0.323													A	44152273	C	A	44152273	2	1	169	1	0	0	0	0	0	0	0	1	8965	581	21	5		5	LRPPRC	2	44152273	Silent	SNP	C	TCGA-19-5958-01A-11D-1696-08		44152273	199047100	2	11786											
RAB11FIP5	26056	broad.mit.edu	37	2	73315641	73315641	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:73315641G>C	uc002siu.4	-	2	1346	c.1105C>G	c.(1105-1107)Caa>Gaa	p.Q369E	RAB11FIP5_uc002sit.4_Missense_Mutation_p.Q291E	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	369					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GAGACAGCTTGCAAGGAGCCA	0.617													C	73315641	G	C	73315641	3	2	169	1	0	0	0	0	1	0	0	0	12897	1328	46	5	868	5	RAB11FIP5	2	73315641	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	29163368	73315641	169883732	3	11787											
DNAH6	1768	broad.mit.edu	37	2	84777113	84777113	+	Nonsense_Mutation	SNP	C	C	T	rs143013494		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:84777113C>T	uc010fgb.3	+	8	1554	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	DNAH6_uc002soo.3_Nonsense_Mutation_p.R52*|DNAH6_uc002sop.3_Nonsense_Mutation_p.R52*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	473	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAAGCTAAAACGAACACCTTC	0.348													T	84777113	C	T	84777113	4	4	169	1	0	0	0	0	0	1	0	0	4605	528	19	1	1447	1	DNAH6	2	84777113	Nonsense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	11461472	84777113	158422260	4	11788											
YSK4	80122	broad.mit.edu	37	2	135738725	135738725	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:135738725G>A	uc002tue.1	-	8	3617	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	YSK4_uc002tuf.1_Missense_Mutation_p.P378S|YSK4_uc010fnc.1_Missense_Mutation_p.P330S|YSK4_uc010fnd.1_Missense_Mutation_p.P1083S|YSK4_uc010zbg.1_Missense_Mutation_p.P328S|YSK4_uc021vpz.1_Missense_Mutation_p.P57S|YSK4_uc002tuh.4_Missense_Mutation_p.P924S|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1196	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTCCAGTTGGCATGAGCATA	0.428													A	135738725	G	A	135738725	3	1	169	1	0	0	0	0	1	0	0	0	17492	1203	42	3	408	3	YSK4	2	135738725	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	50961612	135738725	107460648	5	11789											
TTN	7273	broad.mit.edu	37	2	179605482	179605482	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:179605482T>A	uc021vsy.1	-						TTN_uc021vsz.1_Missense_Mutation_p.T3989S|TTN_uc021vta.1_Missense_Mutation_p.T3922S|TTN_uc021vtb.1_Missense_Mutation_p.T3797S|TTN_uc002umz.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			TTGGAGAAGGTTTTCTGGGAC	0.453													A	179605482	T	A	179605482	3	1	169	1	0	0	0	0	1	0	0	0	16732	1725	60	5	92311	5	TTN	2	179605482	Missense_Mutation	SNP	T	TCGA-19-5958-01A-11D-1696-08	43866757	179605482	63593891	6	11790											
CACNA1D	776	broad.mit.edu	37	3	53757913	53757913	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr3:53757913A>G	uc003dgv.4	+	13	2150	c.1987A>G	c.(1987-1989)Atc>Gtc	p.I663V	CACNA1D_uc003dgu.4_Missense_Mutation_p.I683V|CACNA1D_uc003dgy.4_Missense_Mutation_p.I663V|CACNA1D_uc003dgw.4_Missense_Mutation_p.I330V	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	663					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTTCATTATCATCTTTTCCTT	0.438													G	53757913	A	G	53757913	3	3	169	1	0	0	0	0	1	0	0	0	2541	217	8	4	2213	4	CACNA1D	3	53757913	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08		53757913	144264517	7	11791											
CNOT6L	246175	broad.mit.edu	37	4	78650009	78650009	+	Silent	SNP	T	T	C			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr4:78650009T>C	uc011ccd.2	-	10	1383	c.1252_splice	c.e10+1	p.G418_splice	CNOT6L_uc003hks.3_Splice_Site_p.G418_splice|CNOT6L_uc003hkt.1_Splice_Site_p.G261_splice	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	418					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TATAAATACCTGAATCTGGCA	0.403													C	78650009	T	C	78650009	2	2	169	1	0	0	0	0	0	0	0	1	3623	1594	55	4		4	CNOT6L	4	78650009	Silent	SNP	T	TCGA-19-5958-01A-11D-1696-08		78650009	112504267	8	11792											
FRAS1	80144	broad.mit.edu	37	4	79236756	79236756	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr4:79236756C>A	uc003hlb.2	+	15	2127	c.1687C>A	c.(1687-1689)Caa>Aaa	p.Q563K	FRAS1_uc003hkw.3_Missense_Mutation_p.Q563K|FRAS1_uc003hky.1_Missense_Mutation_p.Q267K|FRAS1_uc003hkz.3_Missense_Mutation_p.Q267K|FRAS1_uc003hla.1_Missense_Mutation_p.Q74K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	563					cell communication	integral to membrane|plasma membrane	metal ion binding			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						AGCTTGTGACCAATCCTGTGA	0.478													A	79236756	C	A	79236756	3	1	169	1	0	0	0	0	1	0	0	0	6042	595	21	5	1749	5	FRAS1	4	79236756	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	586747	79236756	111917520	9	11793											
HCN1	348980	broad.mit.edu	37	5	45303842	45303842	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:45303842A>T	uc003jok.3	-	5	1502	c.1477T>A	c.(1477-1479)Ttt>Att	p.F493I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	493						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R492K(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AACACCTCAAATCTCAACTTG	0.413													T	45303842	A	T	45303842	3	4	169	1	0	0	0	0	1	0	0	0	6996	101	4	5	1207	5	HCN1	5	45303842	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08		45303842	135611418	10	11794											
PLK2	10769	broad.mit.edu	37	5	57754862	57754862	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:57754862C>T	uc003jrn.3	-	1	508	c.328G>A	c.(328-330)Gca>Aca	p.A110T	PLK2_uc021xyx.1_Missense_Mutation_p.A96T|PLK2_uc011cql.1_Missense_Mutation_p.A12T	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	110	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	p.A110T(2)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATAATTTTTGCGGCGTAGACT	0.423													T	57754862	C	T	57754862	3	4	169	1	0	0	0	0	1	0	0	0	12096	768	27	1	1781	1	PLK2	5	57754862	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	12451020	57754862	123160398	11	11795											
PIK3R1	5295	broad.mit.edu	37	5	67589149	67589149	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:67589149A>T	uc003jva.3	+	9	1717	c.1137A>T	c.(1135-1137)aaA>aaT	p.K379N	PIK3R1_uc003jvc.3_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109N|PIK3R1_uc003jve.3_Missense_Mutation_p.K58N|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16N|PIK3R1_uc011crb.2_Missense_Mutation_p.K49N	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAATAACAAATTAATCAAAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			T	67589149	A	T	67589149	3	4	169	1	0	0	0	0	1	0	0	0	11918	98	4	5	1301	5	PIK3R1	5	67589149	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08	9834287	67589149	113326111	12	11796											
TGFBI	7045	broad.mit.edu	37	5	135385160	135385160	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:135385160G>T	uc003lbf.4	+	6	965	c.804G>T	c.(802-804)atG>atT	p.M268I	TGFBI_uc003lbg.4_Missense_Mutation_p.M1I|TGFBI_uc003lbh.4_Missense_Mutation_p.M94I|TGFBI_uc011cyb.2_Missense_Mutation_p.M94I	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	268	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAACACGATGCTTGAAGGTA	0.567													T	135385160	G	T	135385160	3	4	169	1	0	0	0	0	1	0	0	0	15817	1319	46	5	830	5	TGFBI	5	135385160	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	67796011	135385160	45530100	13	11797											
NDST1	3340	broad.mit.edu	37	5	149925000	149925000	+	Silent	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:149925000C>T	uc003lsk.4	+	10	2599	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	NDST1_uc011dcj.2_Silent_p.V699V	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	699	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCAAGGTCCTGACCATCC	0.612													T	149925000	C	T	149925000	2	4	169	1	0	0	0	0	0	0	0	1	10255	842	30	3		3	NDST1	5	149925000	Silent	SNP	C	TCGA-19-5958-01A-11D-1696-08	14539840	149925000	30990260	14	11798											
ANXA6	309	broad.mit.edu	37	5	150512089	150512089	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:150512089G>A	uc003ltl.2	-	9	912	c.684C>T	c.(682-684)gcC>gcT	p.A228A	ANXA6_uc011dcp.2_Silent_p.A196A|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	228						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGATGCTGGCTTCAATCG	0.542													A	150512089	G	A	150512089	2	1	169	1	0	0	0	0	0	0	0	1	722	1335	47	3		3	ANXA6	5	150512089	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08	587089	150512089	30403171	15	11799											
DOCK2	1794	broad.mit.edu	37	5	169098173	169098174	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:169098173_169098174delTA	uc003maf.3	+	4	396_397	c.316_317delTA	c.(316-318)tatfs	p.Y106fs	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	106					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			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)			GAAACAACTCTATGTGGTGAGA	0.441													-	169098174	TA	-	169098173	7	5	169	1	0	1	0	1	0	0	0	0	4687	1522	53	0	334	0	DOCK2	5	169098173	Frame_Shift_Del	DEL	TA	TCGA-19-5958-01A-11D-1696-08	18586084	169098173	11817087	16	11800											
PRSS16	10279	broad.mit.edu	37	6	27222902	27222902	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:27222902G>T	uc003nja.3	+	10	1483	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.G233W|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	490					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCGCCTAGGGCGCCAGGT	0.507													T	27222902	G	T	27222902	3	4	169	1	0	0	0	0	1	0	0	0	12616	1000	35	5	1510	5	PRSS16	6	27222902	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		27222902	143892165	17	11801											
MSH5	4439	broad.mit.edu	37	6	31721395	31721395	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:31721395G>T	uc003nwu.2	+	11	1131	c.1003G>T	c.(1003-1005)Gtt>Ttt	p.V335F	MSH5_uc003nwx.2_Missense_Mutation_p.V352F|MSH5_uc003nwv.2_Missense_Mutation_p.V335F|MSH5_uc003nww.2_Missense_Mutation_p.V335F|MSH5_uc011dof.1_Missense_Mutation_p.V34F|MSH5_uc003nwy.1_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	335					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						CGACTGGCAGGTTCTCTACAA	0.493								Direct reversal of damage;Mismatch excision repair (MMR)					T	31721395	G	T	31721395	3	4	169	1	0	0	0	0	1	0	0	0	9873	1261	44	5	1096	5	MSH5	6	31721395	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	4498493	31721395	139393672	18	11802											
ANKRD6	22881	broad.mit.edu	37	6	90333750	90333750	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:90333750C>T	uc003pni.4	+	11	1533	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	ANKRD6_uc003pne.4_Missense_Mutation_p.R398W|ANKRD6_uc003pnf.4_Missense_Mutation_p.R363W|ANKRD6_uc011dzy.2_Missense_Mutation_p.R398W|ANKRD6_uc010kcd.3_Missense_Mutation_p.R339W|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_5'UTR	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	398							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CACATTGTACCGGGGCAAGGA	0.522													T	90333750	C	T	90333750	3	4	169	1	0	0	0	0	1	0	0	0	685	643	23	2	1234	2	ANKRD6	6	90333750	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	58612355	90333750	80781317	19	11803											
SLC22A3	6581	broad.mit.edu	37	6	160819102	160819102	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:160819102A>G	uc003qti.3	+	1	548	c.521A>G	c.(520-522)tAt>tGt	p.Y174C	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	174						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ACCTTAGGCTATGCAGCAGAC	0.433													G	160819102	A	G	160819102	3	3	169	1	0	0	0	0	1	0	0	0	14455	449	16	4	527	4	SLC22A3	6	160819102	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08	70485352	160819102	10295965	20	11804											
ABCB1	5243	broad.mit.edu	37	7	87135283	87135283	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr7:87135283G>A	uc003uiz.2	-	27	4059	c.3566C>T	c.(3565-3567)gCc>gTc	p.A1189V	ABCB1_uc011khc.2_Missense_Mutation_p.A1125V	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1189	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TCTAACAAGGGCACGAGCTAT	0.403													A	87135283	G	A	87135283	3	1	169	1	0	0	0	0	1	0	0	0	40	1203	42	3	284	3	ABCB1	7	87135283	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		87135283	72003380	21	11805											
MLL3	58508	broad.mit.edu	37	7	151970848	151970848	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr7:151970848C>A	uc003wla.3	-	6	1173	c.954G>T	c.(952-954)caG>caT	p.Q318H		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	318					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GACTGAAATCCTGAAAGGTGC	0.423			N		medulloblastoma								A	151970848	C	A	151970848	3	1	169	1	0	0	0	0	1	0	0	0	9622	680	24	5	13993	5	MLL3	7	151970848	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	64835565	151970848	7167815	22	11806											
SAMD12	401474	broad.mit.edu	37	8	119593041	119593041	+	Silent	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr8:119593041A>T	uc003yom.2	-	1	234	c.105T>A	c.(103-105)tcT>tcA	p.S35S	SAMD12_uc010mda.1_Silent_p.S35S|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	35										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TAATGGATTGAGATTCCACAC	0.453													T	119593041	A	T	119593041	2	4	169	1	0	0	0	0	0	0	0	1	13817	291	11	5		5	SAMD12	8	119593041	Silent	SNP	A	TCGA-19-5958-01A-11D-1696-08		119593041	26770981	23	11807											
TBC1D2	55357	broad.mit.edu	37	9	100971301	100971301	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr9:100971301C>T	uc011lvb.2	-	8	1979	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	TBC1D2_uc004ayp.3_Missense_Mutation_p.R140Q|TBC1D2_uc004ayq.3_Missense_Mutation_p.R600Q|TBC1D2_uc004ayr.3_Missense_Mutation_p.R382Q	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	600						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTCAGCGGCCGATCCACAGC	0.652													T	100971301	C	T	100971301	3	4	169	1	0	0	0	0	1	0	0	0	15605	652	23	2	974	2	TBC1D2	9	100971301	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08		100971301	40242130	24	11808											
PRKG1	5592	broad.mit.edu	37	10	54053584	54053584	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr10:54053584G>A	uc001jjm.3	+	17	2168	c.1940G>A	c.(1939-1941)aGt>aAt	p.S647N	PRKG1_uc001jjo.3_Missense_Mutation_p.S662N|PRKG1_uc009xow.2_Missense_Mutation_p.S365N|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	647	AGC-kinase C-terminal.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.L647L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACAGACACAAGTAATTTTGAC	0.388													A	54053584	G	A	54053584	3	1	169	1	0	0	0	0	1	0	0	0	12522	1029	36	3	2325	3	PRKG1	10	54053584	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		54053584	81481163	25	11809											
RRP12	23223	broad.mit.edu	37	10	99130292	99130292	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr10:99130292G>A	uc001knf.3	-	22	2748	c.2609C>T	c.(2608-2610)tCg>tTg	p.S870L	RRP12_uc009xvl.3_5'UTR|RRP12_uc009xvm.3_Missense_Mutation_p.S588L|RRP12_uc010qou.2_Missense_Mutation_p.S809L|RRP12_uc009xvn.3_Missense_Mutation_p.S770L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	870						integral to membrane|nuclear membrane|nucleolus	protein binding	p.S870L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGCGCCCACCGACACCTCCTT	0.612													A	99130292	G	A	99130292	3	1	169	1	0	0	0	0	1	0	0	0	13686	1059	37	2	1332	2	RRP12	10	99130292	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	45076708	99130292	36404455	26	11810											
RIC8A	60626	broad.mit.edu	37	11	209871	209871	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:209871G>A	uc001lof.3	+	2	922	c.597G>A	c.(595-597)acG>acA	p.T199T	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Silent_p.T199T|RIC8A_uc001loh.3_Silent_p.T192T	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	199						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGAGCTGACGCTGGGGGTGA	0.602													A	209871	G	A	209871	2	1	169	1	0	0	0	0	0	0	0	1	13355	1074	38	1		1	RIC8A	11	209871	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08		209871	134796645	27	11811											
MMP3	4314	broad.mit.edu	37	11	102709358	102709358	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:102709358C>T	uc001phj.1	-	7	1218	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	385					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTTTCCTCACGGTTGGAGGG	0.403													T	102709358	C	T	102709358	3	4	169	1	0	0	0	0	1	0	0	0	9666	536	19	1	292	1	MMP3	11	102709358	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	102499487	102709358	32297158	28	11812											
SCN2B	6327	broad.mit.edu	37	11	118037799	118037799	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:118037799G>T	uc001psf.2	-	3	642	c.451C>A	c.(451-453)Ccc>Acc	p.P151T		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	151	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	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;3.19e-05)|Epithelial(105;0.00117)		CGCTCAGGGGGCTCTGGAAAG	0.627													T	118037799	G	T	118037799	3	4	169	1	0	0	0	0	1	0	0	0	13917	1203	42	5	200	5	SCN2B	11	118037799	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	15328441	118037799	16968717	29	11813											
PIWIL1	9271	broad.mit.edu	37	12	130833883	130833883	+	Silent	SNP	T	T	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr12:130833883T>A	uc001uik.3	+	7	1105	c.834T>A	c.(832-834)acT>acA	p.T278T	PIWIL1_uc001uij.2_Silent_p.T278T	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	278	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAAGTGAGACTGTTTTGGATT	0.383													A	130833883	T	A	130833883	2	1	169	1	0	0	0	0	0	0	0	1	11957	1567	55	5		5	PIWIL1	12	130833883	Silent	SNP	T	TCGA-19-5958-01A-11D-1696-08		130833883	3018012	30	11814											
IRS2	8660	broad.mit.edu	37	13	110436118	110436118	+	Silent	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr13:110436118C>T	uc001vqv.3	-	0	2797	c.2283G>A	c.(2281-2283)ctG>ctA	p.L761L		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	761					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCCCGTTGGGCAGCAGCTTGC	0.692													T	110436118	C	T	110436118	2	4	169	1	0	0	0	0	0	0	0	1	7841	697	25	3		3	IRS2	13	110436118	Silent	SNP	C	TCGA-19-5958-01A-11D-1696-08		110436118	4733760	31	11815											
NFATC4	4776	broad.mit.edu	37	14	24845826	24845826	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr14:24845826C>T	uc001wpc.3	+	8	2704	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.R858W|NFATC4_uc010tol.2_Missense_Mutation_p.R858W|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.R808W|NFATC4_uc010ton.2_Missense_Mutation_p.R808W|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.R827W|NFATC4_uc010top.2_Missense_Mutation_p.R827W|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.R725W|NFATC4_uc010tot.2_Missense_Mutation_p.R783W|NFATC4_uc010tou.2_Missense_Mutation_p.R725W|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.R783W|NFATC4_uc010tox.2_Missense_Mutation_p.R725W|NFATC4_uc001wpd.3_Missense_Mutation_p.R330W|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.R330W|NFATC4_uc010tpa.2_Missense_Mutation_p.R83W|NFATC4_uc010tpb.2_Missense_Mutation_p.R83W	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	795	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GTATGGAGGGCGGGGCTCCTC	0.642													T	24845826	C	T	24845826	3	4	169	1	0	0	0	0	1	0	0	0	10365	759	27	1	2610	1	NFATC4	14	24845826	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08		24845826	82503714	32	11816											
C14orf105	55195	broad.mit.edu	37	14	57949812	57949812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr14:57949812G>A	uc010trl.1	-	2	507	c.364C>T	c.(364-366)Cga>Tga	p.R122*	C14orf105_uc001xcy.2_Nonsense_Mutation_p.R122*|C14orf105_uc010trm.1_Nonsense_Mutation_p.R34*|C14orf105_uc010trn.1_Nonsense_Mutation_p.R34*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.R122*|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_Nonsense_Mutation_p.R44*	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	122										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTGGCTTCTCGCTGGCTCAGG	0.522													A	57949812	G	A	57949812	4	1	169	1	0	0	0	0	0	1	0	0	1737	1095	38	1	542	1	C14orf105	14	57949812	Nonsense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	33103986	57949812	49399728	33	11817											
ATP10A	57194	broad.mit.edu	37	15	25924506	25924506	+	Silent	SNP	A	A	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr15:25924506A>T	uc010ayu.3	-	20	4588	c.4482T>A	c.(4480-4482)tcT>tcA	p.S1494S		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1494					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCGCCTTGAAGATGCTCCTA	0.418													T	25924506	A	T	25924506	2	4	169	1	0	0	0	0	0	0	0	1	1116	59	3	5		5	ATP10A	15	25924506	Silent	SNP	A	TCGA-19-5958-01A-11D-1696-08		25924506	76606886	34	11818											
CACNA1H	8912	broad.mit.edu	37	16	1259347	1259347	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:1259347G>A	uc002cks.3	+	16	3927	c.3679G>A	c.(3679-3681)Gac>Aac	p.D1227N	CACNA1H_uc002ckt.3_Missense_Mutation_p.D1227N|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1227					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTGCCCAGCGACTTCTTCCT	0.736													A	1259347	G	A	1259347	3	1	169	1	0	0	0	0	1	0	0	0	2545	1058	37	2	3741	2	CACNA1H	16	1259347	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		1259347	89095406	35	11819											
MGRN1	23295	broad.mit.edu	37	16	4731589	4731589	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:4731589G>A	uc002cxa.3	+	12	1307	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	MGRN1_uc002cwz.3_Silent_p.S390S|MGRN1_uc010uxo.2_Silent_p.S368S|MGRN1_uc010uxp.2_Silent_p.S368S|MGRN1_uc010btw.3_Silent_p.S369S|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	390					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGCCCATCTCGCTGCTCGAGG	0.647													A	4731589	G	A	4731589	2	1	169	1	0	0	0	0	0	0	0	1	9559	1074	38	1		1	MGRN1	16	4731589	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08	3472242	4731589	85623164	36	11820											
NKD1	85407	broad.mit.edu	37	16	50664787	50664787	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:50664787C>T	uc002egg.2	+	7	885	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	221					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGAGGACCTGCGGAGCTGGGA	0.612													T	50664787	C	T	50664787	3	4	169	1	0	0	0	0	1	0	0	0	10441	759	27	1	691	1	NKD1	16	50664787	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	45933198	50664787	39689966	37	11821											
CNGB1	1258	broad.mit.edu	37	16	57949167	57949167	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:57949167G>A	uc002emt.2	-	22	2355	c.2290C>T	c.(2290-2292)Ccc>Tcc	p.P764S	CNGB1_uc010cdh.2_Missense_Mutation_p.P758S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	764					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AAACAGCGGGGCAGGCGGAGG	0.602													A	57949167	G	A	57949167	3	1	169	1	0	0	0	0	1	0	0	0	3600	1203	42	3	1509	3	CNGB1	16	57949167	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	7284380	57949167	32405586	38	11822											
MYH4	4622	broad.mit.edu	37	17	10355578	10355578	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:10355578G>A	uc002gmn.3	-	26	3529	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1140					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGTCAGAGCGCTGCTTCTCT	0.582													A	10355578	G	A	10355578	3	1	169	1	0	0	0	0	1	0	0	0	10037	1087	38	1	2457	1	MYH4	17	10355578	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		10355578	70839632	39	11823											
DNAH9	1770	broad.mit.edu	37	17	11572540	11572540	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:11572540C>T	uc002gne.3	+	15	2959	c.2891C>T	c.(2890-2892)cCa>cTa	p.P964L	DNAH9_uc010coo.3_Missense_Mutation_p.P258L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	964	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			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)		TCTCTGGTGCCACGGCTTTCC	0.527													T	11572540	C	T	11572540	3	4	169	1	0	0	0	0	1	0	0	0	4608	594	21	3	2953	3	DNAH9	17	11572540	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	1216962	11572540	69622670	40	11824											
ERAL1	26284	broad.mit.edu	37	17	27182172	27182172	+	Silent	SNP	A	A	G			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:27182172A>G	uc002hcy.1	+	0	130	c.120A>G	c.(118-120)caA>caG	p.Q40Q	ERAL1_uc002hcx.1_Silent_p.Q40Q|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	40					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			TAGGCTTCCAACGGAGGTGCG	0.627													G	27182172	A	G	27182172	2	3	169	1	0	0	0	0	0	0	0	1	5202	40	2	4		4	ERAL1	17	27182172	Silent	SNP	A	TCGA-19-5958-01A-11D-1696-08	15609632	27182172	54013038	41	11825											
ICAM4	3386	broad.mit.edu	37	19	10398453	10398453	+	Silent	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:10398453G>A	uc002mnr.2	+	1	605	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	ICAM4_uc002mns.2_Silent_p.A212A|ICAM4_uc002mnt.2_Silent_p.A212A|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TCTGCCACGCGCGCCTCAATC	0.642													A	10398453	G	A	10398453	2	1	169	1	0	0	0	0	0	0	0	1	7482	1087	38	1		1	ICAM4	19	10398453	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08		10398453	48730530	42	11826											
OR10H1	26539	broad.mit.edu	37	19	15918076	15918076	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:15918076C>T	uc002nbq.2	-	0	861	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGTAAATGACGGAGGCAAAG	0.552													T	15918076	C	T	15918076	3	4	169	1	0	0	0	0	1	0	0	0	10905	536	19	1	188	1	OR10H1	19	15918076	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	5519623	15918076	43210907	43	11827											
PSG9	5678	broad.mit.edu	37	19	43766196	43766196	+	Silent	SNP	G	G	A	rs150952802		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:43766196G>A	uc002owd.4	-	2	624	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_uc002owe.4_Silent_p.D175D|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Silent_p.D175D	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	175	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532													A	43766196	G	A	43766196	2	1	169	1	0	0	0	0	0	0	0	1	12662	1136	40	1		1	PSG9	19	43766196	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08	27848120	43766196	15362787	44	11828											
PLEKHA4	57664	broad.mit.edu	37	19	49360714	49360714	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:49360714G>A	uc002pkx.3	-	8	1563	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	PLEKHA4_uc010eml.3_Intron	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	338	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCAGGGGGCCGCGGGGGGAGC	0.542													A	49360714	G	A	49360714	3	1	169	1	0	0	0	0	1	0	0	0	12058	1086	38	1	1375	1	PLEKHA4	19	49360714	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	5594518	49360714	9768269	45	11829											
GFRA4	64096	broad.mit.edu	37	20	3640606	3640606	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr20:3640606G>A	uc002wio.3	-	4	850	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	GFRA4_uc002win.3_Missense_Mutation_p.R254C	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	284						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						AGCAGGGAGCGTCTCTCCAGG	0.642													A	3640606	G	A	3640606	3	1	169	1	0	0	0	0	1	0	0	0	6350	1145	40	1	53	1	GFRA4	20	3640606	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		3640606	59384914	46	11830											
MX2	4600	broad.mit.edu	37	21	42770891	42770891	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr21:42770891G>A	uc002yzf.1	+	8	1321	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	MX2_uc011aer.1_Non-coding_Transcript|MX2_uc002yzg.1_Missense_Mutation_p.R129H|MX2_uc010gop.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	406					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAGCTGCGGCGTTGCGGGGCT	0.527													A	42770891	G	A	42770891	3	1	169	1	0	0	0	0	1	0	0	0	9998	1145	40	1	1247	1	MX2	21	42770891	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		42770891	5359004	47	11831											
TBC1D8B	54885	broad.mit.edu	37	X	106109162	106109162	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrX:106109162C>T	uc004emo.3	+	15	2726	c.2561C>T	c.(2560-2562)gCt>gTt	p.A854V	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	854						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTCCCTGGGCTCATTCTGCA	0.408													T	106109162	C	T	106109162	3	4	169	1	0	0	0	0	1	0	0	0	15623	797	28	3	2689	3	TBC1D8B	23	106109162	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08		106109162	49161398	48	11832											
PCDH11Y	83259	broad.mit.edu	37	Y	4925190	4925190	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrY:4925190T>A	uc004fqo.3	+	0	1060	c.326T>A	c.(325-327)aTt>aAt	p.I109N	PCDH11Y_uc010nwg.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fql.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqm.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqn.1_Missense_Mutation_p.I109N	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	109	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGATTCGAATTGAAGAGGAT	0.443													A	4925190	T	A	4925190	3	1	169	1	0	0	0	0	1	0	0	0	11509	1493	52	5	364	5	PCDH11Y	24	4925190	Missense_Mutation	SNP	T	TCGA-19-5958-01A-11D-1696-08		4925190	54448376	49	11833											
SKI	6497	broad.mit.edu	37	1	2234792	2234792	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:2234792G>A	uc001aja.4	+	2	1236	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	388					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CAGTGTCAGCGAGTGAGAAAG	0.622													A	2234792	G	A	2234792	2	1	170	1	0	0	0	0	0	0	0	1	14357	1045	37	2		2	SKI	1	2234792	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08		2234792	247015829	1	11834											
HIVEP3	59269	broad.mit.edu	37	1	42048030	42048030	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:42048030C>T	uc001cgz.4	-	3	3652	c.2439G>A	c.(2437-2439)gaG>gaA	p.E813E	HIVEP3_uc001cha.4_Silent_p.E813E|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	813	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				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)				CACTCGGCTGCTCGAGAGAAT	0.557													T	42048030	C	T	42048030	2	4	170	1	0	0	0	0	0	0	0	1	7188	796	28	3		3	HIVEP3	1	42048030	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	39813238	42048030	207202591	2	11835											
ZYG11B	79699	broad.mit.edu	37	1	53250588	53250588	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:53250588C>T	uc001cuj.3	+	4	1327	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Missense_Mutation_p.P369S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	378							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TATGAATTTGCCAGTGCAACT	0.458													T	53250588	C	T	53250588	3	4	170	1	0	0	0	0	1	0	0	0	18250	739	26	3	1150	3	ZYG11B	1	53250588	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	11202558	53250588	196000033	3	11836											
PCSK9	255738	broad.mit.edu	37	1	55527067	55527067	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:55527067G>A	uc001cyf.2	+	10	2063	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	567					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCCACTGGGAGGTGGAGGACC	0.642													A	55527067	G	A	55527067	2	1	170	1	0	0	0	0	0	0	0	1	11606	991	35	3		3	PCSK9	1	55527067	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	2276479	55527067	193723554	4	11837											
TACSTD2	4070	broad.mit.edu	37	1	59041860	59041860	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:59041860C>T	uc001cyz.4	-	0	1307	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	323					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					CGGGTACCTACAAGCTCGGTT	0.592													T	59041860	C	T	59041860	2	4	170	1	0	0	0	0	0	0	0	1	15505	477	17	3		3	TACSTD2	1	59041860	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	3514793	59041860	190208761	5	11838											
DDX20	11218	broad.mit.edu	37	1	112305594	112305594	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:112305594C>T	uc001ebs.3	+	9	1634	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	DDX20_uc010owf.2_Missense_Mutation_p.A188V|DDX20_uc001ebt.3_Missense_Mutation_p.A34V	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	426	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	p.I425N(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAGAATTGCCCAGAAATGT	0.353													T	112305594	C	T	112305594	3	4	170	1	0	0	0	0	1	0	0	0	4348	739	26	3	1315	3	DDX20	1	112305594	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	53263734	112305594	136945027	6	11839											
CRNN	49860	broad.mit.edu	37	1	152382359	152382359	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:152382359G>A	uc001ezx.2	-	2	1273	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	400					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.P400L(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTCCCGGTACTGTCTC	0.612													A	152382359	G	A	152382359	3	1	170	1	0	0	0	0	1	0	0	0	3892	1116	39	2	292	2	CRNN	1	152382359	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	40076765	152382359	96868262	7	11840											
CD1D	912	broad.mit.edu	37	1	158153825	158153825	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:158153825C>T	uc001frr.3	+	6	1485	c.986_splice	c.e6+1	p.T329_splice	CD1D_uc009wss.3_Splice_Site_p.T236_splice	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	329					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAGGCAAACGTAAGTCTCC	0.512													T	158153825	C	T	158153825	3	4	170	1	0	0	0	0	1	0	0	0	2977	550	19	1	1004	1	CD1D	1	158153825	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	5771466	158153825	91096796	8	11841											
SERPINC1	462	broad.mit.edu	37	1	173883833	173883833	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:173883833C>T	uc001gjt.3	-	1	385	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	89			R -> C (in AT3D; type-I).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GGTAGCAAAGCGGGAATTGGC	0.532											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	173883833	C	T	173883833	3	4	170	1	0	0	0	0	1	0	0	0	14109	768	27	1	1152	1	SERPINC1	1	173883833	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	15730008	173883833	75366788	9	11842											
PRG4	10216	broad.mit.edu	37	1	186280588	186280588	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:186280588G>A	uc001gru.4	+	9	3704	c.3653G>A	c.(3652-3654)cGt>cAt	p.R1218H	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.R1177H|PRG4_uc009wyl.3_Missense_Mutation_p.R1125H|PRG4_uc009wym.3_Missense_Mutation_p.R1084H|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1218	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAGTACTGGCGTTTTACCAAT	0.353													A	186280588	G	A	186280588	3	1	170	1	0	0	0	0	1	0	0	0	12481	1145	40	1	3687	1	PRG4	1	186280588	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	12396755	186280588	62970033	10	11843											
LHX9	56956	broad.mit.edu	37	1	197889248	197889248	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:197889248C>T	uc001guk.1	+	1	758	c.321C>T	c.(319-321)tcC>tcT	p.S107S	LHX9_uc001gui.1_Silent_p.S98S	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	107	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.S107S(2)|p.E106G(1)|p.S98S(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCCTCGAGTCCGAGCTCACCT	0.557													T	197889248	C	T	197889248	2	4	170	1	0	0	0	0	0	0	0	1	8777	639	23	2		2	LHX9	1	197889248	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	11608660	197889248	51361373	11	11844											
OBSCN	84033	broad.mit.edu	37	1	228509734	228509734	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:228509734G>A	uc009xez.1	+	54	15236	c.15192G>A	c.(15190-15192)gcG>gcA	p.A5064A	OBSCN_uc001hsn.3_Silent_p.A5064A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5064					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.T5063S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTTGAGGCGCTCACTGAGG	0.612													A	228509734	G	A	228509734	2	1	170	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228509734	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	30620486	228509734	20740887	12	11845											
CCDC88A	55704	broad.mit.edu	37	2	55563820	55563821	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:55563820_55563821delTC	uc002ryv.2	-	13	2494_2495	c.1652_1653delGA	c.(1651-1653)agafs	p.R551fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.R453fs|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.3_5'Flank	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	551					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			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						TATGAACCTGTCTCTCTGAATT	0.262													-	55563821	TC	-	55563820	7	5	170	1	0	1	0	1	0	0	0	0	2863	1664	58	0	4038	0	CCDC88A	2	55563820	Frame_Shift_Del	DEL	TC	TCGA-19-5959-01A-11D-1696-08		55563820	187635553	13	11846											
SMYD5	10322	broad.mit.edu	37	2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:73453009_73453011delGAG	uc002siw.2	+	12	1221_1223	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	SMYD5_uc010yre.1_In_Frame_Del_p.E287del	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	403	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562													-	73453011	GAG	-	73453009	7	5	170	1	0	1	0	1	0	0	0	0	14825	943	33	0	1242	0	SMYD5	2	73453009	In_Frame_Del	DEL	GAG	TCGA-19-5959-01A-11D-1696-08	17889189	73453009	169746364	14	11847											
IL18RAP	8807	broad.mit.edu	37	2	103040451	103040451	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:103040451G>T	uc002tbx.3	+	3	735	c.251G>T	c.(250-252)tGg>tTg	p.W84L	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	84					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GATGTCCAATGGTACCAACAA	0.458													T	103040451	G	T	103040451	3	4	170	1	0	0	0	0	1	0	0	0	7648	1357	47	5	257	5	IL18RAP	2	103040451	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	29587442	103040451	140158922	15	11848											
LRP2	4036	broad.mit.edu	37	2	170112639	170112639	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:170112639G>A	uc002ues.3	-	18	2960	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L	LRP2_uc010zdf.1_Missense_Mutation_p.P779L	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	916					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.P916Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGTCCAAACGGATGTGTCAT	0.378													A	170112639	G	A	170112639	3	1	170	1	0	0	0	0	1	0	0	0	8956	1116	39	2	11464	2	LRP2	2	170112639	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	67072188	170112639	73086734	16	11849											
TTN	7273	broad.mit.edu	37	2	179442111	179442111	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:179442111G>A	uc021vsy.1	-	272	61472	c.61247C>T	c.(61246-61248)gCa>gTa	p.A20416V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A14111V|TTN_uc021vta.1_Missense_Mutation_p.A14044V|TTN_uc021vtb.1_Missense_Mutation_p.A13919V|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21343	Fibronectin type-III 48.						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)			GTCTTTTCCTGCCTTGGACCA	0.403													A	179442111	G	A	179442111	3	1	170	1	0	0	0	0	1	0	0	0	16732	1319	46	3	39184	3	TTN	2	179442111	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	9329472	179442111	63757262	17	11850											
MFF	56947	broad.mit.edu	37	2	228195421	228195421	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:228195421A>T	uc002vos.3	+	3	530	c.118A>T	c.(118-120)Act>Tct	p.T40S	MFF_uc002vot.3_Missense_Mutation_p.T14S|MFF_uc002vow.3_Missense_Mutation_p.T14S|MFF_uc002voy.3_Missense_Mutation_p.T40S|MFF_uc021vxu.1_Missense_Mutation_p.T14S|MFF_uc002voz.3_Missense_Mutation_p.T14S	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	40						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AATGGAATATACTGAAGGCAT	0.458													T	228195421	A	T	228195421	3	4	170	1	0	0	0	0	1	0	0	0	9519	391	14	5	124	5	MFF	2	228195421	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	48753310	228195421	15003952	18	11851											
UGT1A1	54575	broad.mit.edu	37	2	234545533	234545533	+	Missense_Mutation	SNP	C	C	T	rs145610800		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:234545533C>T	uc002vur.3	+	0	411	c.365C>T	c.(364-366)tCg>tTg	p.S122L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S122L	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	125					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTATTTTTTTCGCATTGCAGG	0.363													T	234545533	C	T	234545533	3	4	170	1	0	0	0	0	1	0	0	0	16941	893	31	2		2	UGT1A1	2	234545533	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	6350112	234545533	8653840	19	11852											
NEU4	129807	broad.mit.edu	37	2	242755707	242755707	+	Missense_Mutation	SNP	G	G	A	rs138212045		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:242755707G>A	uc002wcp.2	+	1	559	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	NEU4_uc010fzr.3_Missense_Mutation_p.R9Q|NEU4_uc002wcm.3_Missense_Mutation_p.R9Q|NEU4_uc002wco.2_Missense_Mutation_p.R9Q|NEU4_uc002wcn.2_Missense_Mutation_p.R21Q	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	9						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		ACCCCTTCACGGACAGTGCTC	0.692													A	242755707	G	A	242755707	3	1	170	1	0	0	0	0	1	0	0	0	10344	1116	39	2	71	2	NEU4	2	242755707	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	8210174	242755707	443666	20	11853											
FBLN2	2199	broad.mit.edu	37	3	13670420	13670420	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:13670420C>T	uc011avc.2	+	11	2967	c.2585C>T	c.(2584-2586)aCg>aTg	p.T862M	FBLN2_uc011auz.2_Missense_Mutation_p.T841M|FBLN2_uc011avb.2_Missense_Mutation_p.T815M|FBLN2_uc011ava.2_Missense_Mutation_p.T862M	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	863	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACGAGTGCACGTCACTGTCC	0.662													T	13670420	C	T	13670420	3	4	170	1	0	0	0	0	1	0	0	0	5699	536	19	1	1317	1	FBLN2	3	13670420	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		13670420	184352010	21	11854											
FBLN2	2199	broad.mit.edu	37	3	13670486	13670486	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:13670486A>G	uc011avc.2	+	11	3033	c.2651A>G	c.(2650-2652)cAg>cGg	p.Q884R	FBLN2_uc011auz.2_Missense_Mutation_p.Q863R|FBLN2_uc011avb.2_Missense_Mutation_p.Q837R|FBLN2_uc011ava.2_Missense_Mutation_p.Q884R	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	885	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TACACATGCCAGAGGAACCCG	0.652													G	13670486	A	G	13670486	3	3	170	1	0	0	0	0	1	0	0	0	5699	188	7	4	1383	4	FBLN2	3	13670486	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	66	13670486	184351944	22	11855											
KCNH8	131096	broad.mit.edu	37	3	19575088	19575088	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:19575088G>A	uc003cbk.1	+	15	3016	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R	KCNH8_uc010hex.1_Missense_Mutation_p.G402R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	941						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCAAACAGGCGGGGCTGCTTA	0.547													A	19575088	G	A	19575088	3	1	170	1	0	0	0	0	1	0	0	0	8038	1116	39	2	2883	2	KCNH8	3	19575088	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5904602	19575088	178447342	23	11856											
RTP3	83597	broad.mit.edu	37	3	46542293	46542293	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:46542293C>T	uc003cps.1	+	1	671	c.603C>T	c.(601-603)taC>taT	p.Y201Y		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	201					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTATTCCTACGCATGCCAAA	0.453													T	46542293	C	T	46542293	2	4	170	1	0	0	0	0	0	0	0	1	13735	547	19	1		1	RTP3	3	46542293	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	26967205	46542293	151480137	24	11857											
DNAH1	25981	broad.mit.edu	37	3	52433096	52433096	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:52433096G>C	uc011bef.2	+	75	12581	c.12320G>C	c.(12319-12321)gGc>gCc	p.G4107A	DNAH1_uc003ddv.3_Missense_Mutation_p.G965A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	4172					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCCAAGATGGCATCCCAGCT	0.532													C	52433096	G	C	52433096	3	2	170	1	0	0	0	0	1	0	0	0	4597	1203	42	5	12618	5	DNAH1	3	52433096	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5890803	52433096	145589334	25	11858											
NT5DC2	64943	broad.mit.edu	37	3	52563292	52563292	+	Silent	SNP	G	G	A	rs148646310		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:52563292G>A	uc003den.3	-	1	331	c.291C>T	c.(289-291)aaC>aaT	p.N97N	NT5DC2_uc003dem.3_5'Flank|NT5DC2_uc010hmi.3_Silent_p.N97N|NT5DC2_uc010hmj.3_5'UTR|NT5DC2_uc003deo.3_Silent_p.N60N	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	60							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GGCTGATCTCGTTGTTGGCGT	0.592													A	52563292	G	A	52563292	2	1	170	1	0	0	0	0	0	0	0	1	10691	1136	40	1		1	NT5DC2	3	52563292	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	130196	52563292	145459138	26	11859											
KIAA1524	57650	broad.mit.edu	37	3	108276241	108276241	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:108276241C>A	uc003dxb.4	-	16	2303	c.2034G>T	c.(2032-2034)atG>atT	p.M678I		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	678						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTCTCAACATACTAGCAA	0.368													A	108276241	C	A	108276241	3	1	170	1	0	0	0	0	1	0	0	0	8239	478	17	5	703	5	KIAA1524	3	108276241	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	55712949	108276241	89746189	27	11860											
PLSCR2	57047	broad.mit.edu	37	3	146177634	146177634	+	Splice_Site	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:146177634C>T	uc021xfa.1	-	4	716	c.276_splice	c.e4+1	p.Q92_splice	PLSCR2_uc003evw.2_Splice_Site_p.Q88_splice|PLSCR2_uc003evv.2_Splice_Site_p.Q19_splice	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	19					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTTGAAATTACCTGACTTAAG	0.373													T	146177634	C	T	146177634	5	4	170	1	0	0	0	0	0	0	1	0	12110	521	18	3	640	3	PLSCR2	3	146177634	Splice_Site	SNP	C	TCGA-19-5959-01A-11D-1696-08	37901393	146177634	51844796	28	11861											
NFXL1	152518	broad.mit.edu	37	4	47864932	47864932	+	Silent	SNP	T	T	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:47864932T>C	uc010igh.3	-	19	2424	c.2247_splice	c.e19-1	p.R749_splice	NFXL1_uc003gxo.3_Splice_Site_p.R74_splice|NFXL1_uc003gxp.3_Splice_Site_p.R749_splice|NFXL1_uc003gxq.4_Splice_Site|NFXL1_uc010igi.3_Splice_Site_p.R749_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	749						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGGTTATTTTTCTAAAAATAA	0.269													C	47864932	T	C	47864932	2	2	170	1	0	0	0	0	0	0	0	1	10388	1797	62	4		4	NFXL1	4	47864932	Silent	SNP	T	TCGA-19-5959-01A-11D-1696-08		47864932	143289344	29	11862											
TXK	7294	broad.mit.edu	37	4	48069656	48069656	+	Nonstop_Mutation	SNP	A	A	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:48069656A>T	uc003gxx.4	-	14	1668	c.1582T>A	c.(1582-1584)Tga>Aga	p.*528R	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Nonstop_Mutation_p.*215R	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	0						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GTTTCCGGTCACCAGGTTTCC	0.483													T	48069656	A	T	48069656	4	4	170	1	0	0	0	0	0	0	0	0	16783	172	6	5	5	5	TXK	4	48069656	Nonstop_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	204724	48069656	143084620	30	11863											
TMPRSS11F	389208	broad.mit.edu	37	4	68934340	68934340	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:68934340A>G	uc003hdt.1	-	6	800	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	251	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACTTACTTCCAAAAGCAGTGA	0.522													G	68934340	A	G	68934340	3	3	170	1	0	0	0	0	1	0	0	0	16240	130	5	4	581	4	TMPRSS11F	4	68934340	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	20864684	68934340	122219936	31	11864											
SCARB2	950	broad.mit.edu	37	4	77102252	77102255	+	Splice_Site	DEL	TCCC	TCCC	-	rs145870223		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:77102252_77102255delTCCC	uc003hju.2	-	3	632	c.276_splice	c.e3-1	p.R92_splice	SCARB2_uc011cbu.2_Intron	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Homo sapiens scavenger receptor class B, member 2 (SCARB2), transcript variant 1, mRNA.	92					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GTTTCTGAGTTCCCTAAAAGAAAG	0.319													-	77102255	TCCC	-	77102252	8	5	170	1	0	1	0	1	0	0	1	0	13882	1783	62	0	1198	0	SCARB2	4	77102252	Splice_Site	DEL	TCCC	TCGA-19-5959-01A-11D-1696-08	8167912	77102252	114052024	32	11865											
CDH18	1016	broad.mit.edu	37	5	19503219	19503219	+	Splice_Site	SNP	C	C	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:19503219C>G	uc003jgd.3	-	11	2047	c.1513_splice	c.e11-1	p.V505_splice	CDH18_uc011cnm.2_Splice_Site_p.V505_splice|CDH18_uc003jgc.3_Splice_Site_p.V505_splice|CDH18_uc021xwu.1_Splice_Site_p.V505_splice	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	505	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TATGAATAACCTAAAGAAAAG	0.303													G	19503219	C	G	19503219	5	3	170	1	0	0	0	0	0	0	1	0	3103	695	24	5	872	5	CDH18	5	19503219	Splice_Site	SNP	C	TCGA-19-5959-01A-11D-1696-08		19503219	161412041	33	11866											
CDH9	1007	broad.mit.edu	37	5	26881626	26881626	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:26881626G>A	uc003jgs.1	-	11	2158	c.1989C>T	c.(1987-1989)ggC>ggT	p.G663G	CDH9_uc011cnv.1_Silent_p.G256G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	663					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCCCCGCCGCCTTCATCGT	0.438													A	26881626	G	A	26881626	2	1	170	1	0	0	0	0	0	0	0	1	3117	1074	38	1		1	CDH9	5	26881626	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	7378407	26881626	154033634	34	11867											
UGT3A2	167127	broad.mit.edu	37	5	36035988	36035988	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:36035988C>T	uc003jjz.2	-	6	1516	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	UGT3A2_uc011cos.2_Missense_Mutation_p.V428I|UGT3A2_uc011cot.2_Missense_Mutation_p.V160I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	462						integral to membrane	glucuronosyltransferase activity			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)			GTCTGGAGGACGTGGTCAATC	0.617													T	36035988	C	T	36035988	3	4	170	1	0	0	0	0	1	0	0	0	16961	536	19	1	191	1	UGT3A2	5	36035988	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	9154362	36035988	144879272	35	11868											
PCDHAC2	56141	broad.mit.edu	37	5	140215418	140215418	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:140215418G>A	uc003lhq.2	+	0	1450	c.1450G>A	c.(1450-1452)Gcg>Acg	p.A484T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.A484T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGAAGAA	0.677													A	140215418	G	A	140215418	3	1	170	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140215418	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	104179430	140215418	40699842	36	11869											
DRD1	1812	broad.mit.edu	37	5	174869392	174869392	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:174869392G>A	uc003mcz.3	-	1	1656	c.711C>T	c.(709-711)caC>caT	p.H237H	DRD1_uc021yia.1_Silent_p.H237H	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	237					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AATTCTTGGCGTGGACTGCTG	0.483													A	174869392	G	A	174869392	2	1	170	1	0	0	0	0	0	0	0	1	4756	1136	40	1		1	DRD1	5	174869392	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	34653974	174869392	6045868	37	11870											
EEF1A1	1915	broad.mit.edu	37	6	74229088	74229088	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:74229088A>G	uc003phi.3	-	1	1288	c.296T>C	c.(295-297)aTc>aCc	p.I99T	EEF1A1_uc003phj.3_Missense_Mutation_p.I99T|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	99						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATGTTTTTGATAAAGTCTCT	0.408											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	74229088	A	G	74229088	3	3	170	1	0	0	0	0	1	0	0	0	4923	333	12	4	1116	4	EEF1A1	6	74229088	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08		74229088	96885979	38	11871											
BACH2	60468	broad.mit.edu	37	6	90660866	90660866	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:90660866G>A	uc011eab.2	-	6	1833	c.959C>T	c.(958-960)cCc>cTc	p.P320L	BACH2_uc003pnw.3_Missense_Mutation_p.P320L|BACH2_uc010kch.3_Missense_Mutation_p.P320L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	320						nucleus	protein dimerization activity|sequence-specific DNA binding	p.P320S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGGGCCGTGGGGGTAGGGGC	0.637													A	90660866	G	A	90660866	3	1	170	1	0	0	0	0	1	0	0	0	1284	1232	43	3	1578	3	BACH2	6	90660866	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	16431778	90660866	80454201	39	11872											
FAM184A	79632	broad.mit.edu	37	6	119301415	119301415	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:119301415G>A	uc003pyj.3	-	9	2537	c.2189C>T	c.(2188-2190)aCg>aTg	p.T730M	FAM184A_uc003pyk.4_Missense_Mutation_p.T610M|FAM184A_uc003pyl.4_Missense_Mutation_p.T610M	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	730								p.T730M(2)|p.T730T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAGCTCTTGCGTAAGCCGCTG	0.423													A	119301415	G	A	119301415	3	1	170	1	0	0	0	0	1	0	0	0	5511	1145	40	1	1269	1	FAM184A	6	119301415	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	28640549	119301415	51813652	40	11873											
TTYH3	80727	broad.mit.edu	37	7	2687687	2687687	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:2687687G>T	uc003smp.3	+	5	909	c.722_splice	c.e5+1	p.G241_splice	TTYH3_uc010ksn.3_Intron|TTYH3_uc003smq.3_Splice_Site_p.G70_splice	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	241						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CATCCTGGTGGGGTGAGTCTG	0.662													T	2687687	G	T	2687687	3	4	170	1	0	0	0	0	1	0	0	0	16738	1246	43	5	739	5	TTYH3	7	2687687	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		2687687	156450976	41	11874											
AHR	196	broad.mit.edu	37	7	17379818	17379818	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:17379818C>T	uc011jxz.1	+	9	2982	c.2369C>T	c.(2368-2370)cCa>cTa	p.P790L		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	790					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CAGTACAATCCAGTACTGCCA	0.443													T	17379818	C	T	17379818	3	4	170	1	0	0	0	0	1	0	0	0	416	594	21	3	2407	3	AHR	7	17379818	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	14692131	17379818	141758845	42	11875											
RELN	5649	broad.mit.edu	37	7	103205876	103205876	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:103205876A>G	uc022ajr.1	-	33	5219	c.5059T>C	c.(5059-5061)Tct>Cct	p.S1687P	RELN_uc022ajq.1_Missense_Mutation_p.S1687P|RELN_uc010liz.3_Missense_Mutation_p.S1687P	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1687					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.S1687Y(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)		TTGTTCAGAGAATACTGGAGC	0.473													G	103205876	A	G	103205876	3	3	170	1	0	0	0	0	1	0	0	0	13220	246	9	4	5451	4	RELN	7	103205876	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	85826058	103205876	55932787	43	11876											
RELN	5649	broad.mit.edu	37	7	103338351	103338351	+	Silent	SNP	G	G	A	rs142192165		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:103338351G>A	uc022ajr.1	-	9	1252	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RELN_uc022ajq.1_Silent_p.L364L|RELN_uc010liz.3_Silent_p.L364L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	364					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.S363G(1)|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)		CCACTGGGTCGAGACTATCTT	0.418													A	103338351	G	A	103338351	2	1	170	1	0	0	0	0	0	0	0	1	13220	1045	37	2		2	RELN	7	103338351	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	132475	103338351	55800312	44	11877											
CNTNAP2	26047	broad.mit.edu	37	7	146825899	146825899	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:146825899A>G	uc003weu.2	+	6	1570	c.1054A>G	c.(1054-1056)Aga>Gga	p.R352G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	352	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGATCTTGCCAGAAGGAAGAA	0.388										HNSCC(39;0.1)			G	146825899	A	G	146825899	3	3	170	1	0	0	0	0	1	0	0	0	3647	180	7	4	1080	4	CNTNAP2	7	146825899	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	43487548	146825899	12312764	45	11878											
REPIN1	29803	broad.mit.edu	37	7	150069842	150069842	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:150069842G>A	uc022apt.1	-	0					REPIN1_uc003whd.2_Silent_p.S493S|REPIN1_uc010lpq.1_Silent_p.S504S|REPIN1_uc010lpr.1_Silent_p.S561S|REPIN1_uc003whc.2_Silent_p.S504S|REPIN1_uc003whe.2_Silent_p.S504S			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).						DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACCTGGTGTCGCACCGGCGCA	0.667													A	150069842	G	A	150069842	2	1	170	1	0	0	0	0	0	0	0	1	13227	1074	38	1		1	REPIN1	7	150069842	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	3243943	150069842	9068821	46	11879											
TEX15	56154	broad.mit.edu	37	8	30701172	30701172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:30701172G>A	uc003xil.3	-	0	5362	c.5362C>T	c.(5362-5364)Cga>Tga	p.R1788*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1788										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)		TTAACCTGTCGTTTGTACTTT	0.343													A	30701172	G	A	30701172	4	1	170	1	0	0	0	0	0	1	0	0	15776	1153	40	1	3023	1	TEX15	8	30701172	Nonsense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		30701172	115662850	47	11880											
DPY19L4	286148	broad.mit.edu	37	8	95792643	95792643	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:95792643G>A	uc003ygx.2	+	15	1756	c.1632_splice	c.e15+1	p.E544_splice		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	544						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TATGGAAAGAGGtaaaaaaat	0.299													A	95792643	G	A	95792643	2	1	170	1	0	0	0	0	0	0	0	1	4743	1014	35	3		3	DPY19L4	8	95792643	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	65091471	95792643	50571379	48	11881											
HAS2	3037	broad.mit.edu	37	8	122641443	122641443	+	Silent	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:122641443A>G	uc003yph.2	-	1	676	c.138T>C	c.(136-138)ttT>ttC	p.F46F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	46						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATACAGTCCAAAAGAGAAAT	0.418													G	122641443	A	G	122641443	2	3	170	1	0	0	0	0	0	0	0	1	6962	127	5	4		4	HAS2	8	122641443	Silent	SNP	A	TCGA-19-5959-01A-11D-1696-08	26848800	122641443	23722579	49	11882											
FAM75C1	441452	broad.mit.edu	37	9	90536465	90536465	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:90536465C>T	uc010mqi.3	+	3	1672	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	FAM75C1_uc004apq.4_Missense_Mutation_p.A531V	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GTTCTGGGGGCGACCTCTGAG	0.512													T	90536465	C	T	90536465	3	4	170	1	0	0	0	0	1	0	0	0	5623	768	27	1	1657	1	FAM75C1	9	90536465	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		90536465	50676966	50	11883											
CTSL2	1515	broad.mit.edu	37	9	99799549	99799549	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:99799549C>T	uc010msi.3	-	3	588	c.381G>A	c.(379-381)acG>acA	p.T127T	CTSL2_uc004awt.3_Silent_p.T127T|CTSL2_uc004awu.3_Silent_p.T72T|CTSL2_uc010msj.2_Silent_p.T72T|CTSL2_uc010msk.3_Silent_p.T72T	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	127						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				TCTTCACTGGCGTCACGTAGC	0.483													T	99799549	C	T	99799549	2	4	170	1	0	0	0	0	0	0	0	1	4039	755	27	1		1	CTSL2	9	99799549	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	9263084	99799549	41413882	51	11884											
CACNA1B	774	broad.mit.edu	37	9	140881238	140881238	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:140881238A>G	uc004cog.3	+	14	2051	c.1906A>G	c.(1906-1908)Aac>Gac	p.N636D	CACNA1B_uc022bqn.1_Missense_Mutation_p.N636D|CACNA1B_uc011mfd.2_Missense_Mutation_p.N238D	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	636					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTCAGGTTCAACTTCCAGGA	0.602													G	140881238	A	G	140881238	3	3	170	1	0	0	0	0	1	0	0	0	2539	130	5	4	1964	4	CACNA1B	9	140881238	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	41081689	140881238	332193	52	11885											
C10orf53	282966	broad.mit.edu	37	10	50901822	50901822	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:50901822G>T	uc001jid.1	+	1	160	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	CHAT_uc010qgs.1_Silent_p.L542L|C10orf53_uc001jib.3_Missense_Mutation_p.V34L|C10orf53_uc001jic.1_Missense_Mutation_p.V34L	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 1, mRNA.	34										endometrium(1)|lung(6)	7		all_neural(218;0.107)				CTTCCCAGCTGTGTTGGCCAT	0.468													T	50901822	G	T	50901822	3	4	170	1	0	0	0	0	1	0	0	0	1606	1377	48	5	106	5	C10orf53	10	50901822	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		50901822	84632925	53	11886											
STOX1	219736	broad.mit.edu	37	10	70644150	70644150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:70644150C>T	uc001jos.2	+	2	685	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	STOX1_uc001joq.3_Nonsense_Mutation_p.Q90*|STOX1_uc001jor.3_Nonsense_Mutation_p.Q200*|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Nonsense_Mutation_p.Q90*	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	200						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TACAACCACCCAGGAAAATAA	0.443													T	70644150	C	T	70644150	4	4	170	1	0	0	0	0	0	1	0	0	15318	595	21	3	608	3	STOX1	10	70644150	Nonsense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	19742328	70644150	64890597	54	11887											
PTEN	5728	broad.mit.edu	37	10	89692810	89692810	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:89692810delA	uc001kfb.3	+	4	1326	c.294delA	c.(292-294)ctafs	p.L98fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	98	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACCACAGCTAGAACTTATCA	0.358		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89692810	A	-	89692810	7	5	170	1	0	1	0	1	0	0	0	0	12738	407	15	0	312	0	PTEN	10	89692810	Frame_Shift_Del	DEL	A	TCGA-19-5959-01A-11D-1696-08	19048660	89692810	45841937	55	11888											
KRTAP5-4	387267	broad.mit.edu	37	11	1643251	1643251	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:1643251C>T	uc009ycy.1	-	0	118	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	105						keratin filament				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)		cagccagagccacagccccca	0.692													T	1643251	C	T	1643251	3	4	170	1	0	0	0	0	1	0	0	0	8563	594	21	3	617	3	KRTAP5-4	11	1643251	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		1643251	133363265	56	11889											
SLC6A5	9152	broad.mit.edu	37	11	20636272	20636272	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:20636272A>T	uc001mqd.3	+	5	1306	c.1033A>T	c.(1033-1035)Act>Tct	p.T345S	SLC6A5_uc009yic.3_Missense_Mutation_p.T110S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	345					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S344S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAAGAACTCGACTTTCTGCAT	0.403													T	20636272	A	T	20636272	3	4	170	1	0	0	0	0	1	0	0	0	14687	275	10	5	1055	5	SLC6A5	11	20636272	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	18993021	20636272	114370244	57	11890											
OR8H3	390152	broad.mit.edu	37	11	55890213	55890213	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:55890213G>A	uc001nii.1	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCCTATGATCGCTATGCAGCG	0.468													A	55890213	G	A	55890213	3	1	170	1	0	0	0	0	1	0	0	0	11239	1087	38	1	367	1	OR8H3	11	55890213	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	35253941	55890213	79116303	58	11891											
OR5A1	219982	broad.mit.edu	37	11	59210760	59210760	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:59210760C>T	uc001nnx.1	+	0	119	c.119C>T	c.(118-120)aCc>aTc	p.T40I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCTATCTTACCACCCTGGCC	0.502													T	59210760	C	T	59210760	3	4	170	1	0	0	0	0	1	0	0	0	11139	507	18	3	121	3	OR5A1	11	59210760	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	3320547	59210760	75795756	59	11892											
OVOL1	5017	broad.mit.edu	37	11	65561705	65561705	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:65561705C>T	uc001ofp.3	+	1	644	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	OVOL1_uc001ofq.3_Missense_Mutation_p.R40C	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	102					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		TGGCTTCCTGCGCACCAAGAT	0.612													T	65561705	C	T	65561705	3	4	170	1	0	0	0	0	1	0	0	0	11326	768	27	1	310	1	OVOL1	11	65561705	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	6350945	65561705	69444811	60	11893											
KRTAP5-8	57830	broad.mit.edu	37	11	71249153	71249153	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:71249153G>A	uc001oqr.1	+	0	83	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	18						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGGGGGCTGCGGCTCTGGCTG	0.652													A	71249153	G	A	71249153	3	1	170	1	0	0	0	0	1	0	0	0	8567	1116	39	2	54	2	KRTAP5-8	11	71249153	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5687448	71249153	63757363	61	11894											
ARRB1	408	broad.mit.edu	37	11	74979943	74979943	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:74979943C>T	uc001owe.2	-	13	1307	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	ARRB1_uc001owf.2_Silent_p.P353P	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	361	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTTCCCGATGCGGGGGTTCCT	0.622													T	74979943	C	T	74979943	2	4	170	1	0	0	0	0	0	0	0	1	980	755	27	1		1	ARRB1	11	74979943	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	3730790	74979943	60026573	62	11895											
GRIN2B	2904	broad.mit.edu	37	12	13716218	13716218	+	Silent	SNP	G	G	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr12:13716218G>C	uc001rbt.2	-	12	4133	c.3954C>G	c.(3952-3954)gcC>gcG	p.A1318A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1318					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L1317M(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTGCGCGGGGCCAGGGCGG	0.587													C	13716218	G	C	13716218	2	2	170	1	0	0	0	0	0	0	0	1	6780	1219	43	5		5	GRIN2B	12	13716218	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08		13716218	120135677	63	11896											
OAS1	4938	broad.mit.edu	37	12	113346549	113346549	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr12:113346549G>A	uc001tuc.3	+	1	495	c.389G>A	c.(388-390)cGt>cAt	p.R130H	OAS1_uc010syn.2_Missense_Mutation_p.R129H|OAS1_uc010syo.2_Missense_Mutation_p.R129H|OAS1_uc001tub.3_Missense_Mutation_p.R130H|OAS1_uc001tud.3_Missense_Mutation_p.R130H|OAS1_uc009zwf.3_Missense_Mutation_p.R129H	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	130	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.R130L(4)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGCAACCCCCGTGCGCTCAGC	0.577													A	113346549	G	A	113346549	3	1	170	1	0	0	0	0	1	0	0	0	10799	1145	40	1	395	1	OAS1	12	113346549	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	99630331	113346549	20505346	64	11897											
OR4K15	81127	broad.mit.edu	37	14	20443959	20443959	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:20443959C>T	uc010tkx.2	+	0	282	c.282C>T	c.(280-282)gaC>gaT	p.D94D		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D94D(4)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTATAGACGTATGTGTTG	0.453													T	20443959	C	T	20443959	2	4	170	1	0	0	0	0	0	0	0	1	11070	535	19	1		1	OR4K15	14	20443959	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08		20443959	86905581	65	11898											
CHD8	57680	broad.mit.edu	37	14	21871175	21871175	+	Splice_Site	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:21871175C>T	uc001war.2	-	17	3779	c.3714_splice	c.e17+1	p.Q1238_splice	CHD8_uc001was.2_Splice_Site_p.Q959_splice|CHD8_uc001wav.1_Splice_Site_p.Q401_splice	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1238	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATTCCTTTACCTGCAGGTCA	0.403													T	21871175	C	T	21871175	5	4	170	1	0	0	0	0	0	0	1	0	3331	521	18	3	4114	3	CHD8	14	21871175	Splice_Site	SNP	C	TCGA-19-5959-01A-11D-1696-08	1427216	21871175	85478365	66	11899											
ACTN1	87	broad.mit.edu	37	14	69356891	69356891	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:69356891C>T	uc001xkl.3	-	10	1509	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	ACTN1_uc001xkk.3_5'Flank|ACTN1_uc010ttb.2_Missense_Mutation_p.R335Q|ACTN1_uc001xkm.3_Missense_Mutation_p.R400Q|ACTN1_uc001xkn.3_Missense_Mutation_p.R400Q|ACTN1_uc001xko.1_Missense_Mutation_p.R335Q|ACTN1_uc010ttd.1_Missense_Mutation_p.R379Q	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	400	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCCTTCTGCCGGAACTTCTC	0.647													T	69356891	C	T	69356891	3	4	170	1	0	0	0	0	1	0	0	0	204	652	23	2	1593	2	ACTN1	14	69356891	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	47485716	69356891	37992649	67	11900											
ITGA11	22801	broad.mit.edu	37	15	68643617	68643617	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:68643617G>A	uc010bib.3	-	7	960	c.873C>T	c.(871-873)aaC>aaT	p.N291N	ITGA11_uc002ari.3_Silent_p.N291N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	291	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ATCTTGTTACGTTGTCTCTTT	0.552													A	68643617	G	A	68643617	2	1	170	1	0	0	0	0	0	0	0	1	7874	1136	40	1		1	ITGA11	15	68643617	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08		68643617	33887775	68	11901											
CSPG4	1464	broad.mit.edu	37	15	75980091	75980091	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:75980091C>T	uc002baw.3	-	2	3408	c.3315G>A	c.(3313-3315)ctG>ctA	p.L1105L		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1105	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (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			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGGACACCTGCAGCTGGATCC	0.657													T	75980091	C	T	75980091	2	4	170	1	0	0	0	0	0	0	0	1	3960	697	25	3		3	CSPG4	15	75980091	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	7336474	75980091	26551301	69	11902											
C15orf27	123591	broad.mit.edu	37	15	76430102	76430102	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:76430102C>T	uc002bbq.3	+	2	248	c.93C>T	c.(91-93)gaC>gaT	p.D31D	C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	31						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AACAAGTAGACGAAGAAACCA	0.537													T	76430102	C	T	76430102	2	4	170	1	0	0	0	0	0	0	0	1	1788	535	19	1		1	C15orf27	15	76430102	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	450011	76430102	26101290	70	11903											
C15orf26	161502	broad.mit.edu	37	15	81429012	81429012	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:81429012C>T	uc002bgb.3	+	2	342	c.315C>T	c.(313-315)gaC>gaT	p.D105D	C15orf26_uc010blp.1_Silent_p.D80D	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	105										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATCTGAAAGACGAATTAGAGG	0.448													T	81429012	C	T	81429012	2	4	170	1	0	0	0	0	0	0	0	1	1787	535	19	1		1	C15orf26	15	81429012	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	4998910	81429012	21102380	71	11904											
HAPLN3	145864	broad.mit.edu	37	15	89430480	89430480	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:89430480C>A	uc002bnd.3	-	2	317	c.236G>T	c.(235-237)gGa>gTa	p.G79V	HAPLN3_uc002bnc.3_Missense_Mutation_p.G17V|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	17	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GAAGGGCAGTCCGTAGGAGCC	0.642													A	89430480	C	A	89430480	3	1	170	1	0	0	0	0	1	0	0	0	6956	855	30	5	1048	5	HAPLN3	15	89430480	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	8001468	89430480	13100912	72	11905											
GNPTG	84572	broad.mit.edu	37	16	1412483	1412483	+	Missense_Mutation	SNP	G	G	A	rs139997459		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:1412483G>A	uc002clm.3	+	7	624	c.557G>A	c.(556-558)cGg>cAg	p.R186Q		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.	186						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCCCTGCAGCGGCAGTGGGAC	0.682													A	1412483	G	A	1412483	3	1	170	1	0	0	0	0	1	0	0	0	6546	1116	39	2	587	2	GNPTG	16	1412483	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		1412483	88942270	73	11906											
TEKT5	146279	broad.mit.edu	37	16	10788509	10788509	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:10788509C>T	uc002czz.1	-	0	294	c.222G>A	c.(220-222)ccG>ccA	p.P74P		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	74					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGATGGTGGGCGGCCGCAGGG	0.642													T	10788509	C	T	10788509	2	4	170	1	0	0	0	0	0	0	0	1	15753	755	27	1		1	TEKT5	16	10788509	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	9376026	10788509	79566244	74	11907											
ITGAM	3684	broad.mit.edu	37	16	31336846	31336846	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:31336846G>A	uc002ebr.3	+	20	2632	c.2534G>A	c.(2533-2535)cGc>cAc	p.R845H	ITGAM_uc002ebq.3_Missense_Mutation_p.R844H|ITGAM_uc010can.3_Missense_Mutation_p.R250H|ITGAM_uc002ebs.1_Missense_Mutation_p.R250H	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	844					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.R844H(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGATCCTGGCGCCTGGCCTGT	0.602													A	31336846	G	A	31336846	3	1	170	1	0	0	0	0	1	0	0	0	7887	1087	38	1	2616	1	ITGAM	16	31336846	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	20548337	31336846	59017907	75	11908											
DPEP3	64180	broad.mit.edu	37	16	68010069	68010069	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:68010069C>T	uc002evc.4	-	8	1326	c.1232G>A	c.(1231-1233)cGt>cAt	p.R411H	DPEP3_uc010cex.3_Missense_Mutation_p.R410H	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	386					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GCTCCAGCTACGACTCAGCAA	0.577													T	68010069	C	T	68010069	3	4	170	1	0	0	0	0	1	0	0	0	4715	536	19	1	317	1	DPEP3	16	68010069	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	36673223	68010069	22344684	76	11909											
CNTNAP4	85445	broad.mit.edu	37	16	76482757	76482757	+	Missense_Mutation	SNP	G	G	A	rs148969138		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:76482757G>A	uc002fex.1	+	4	984	c.845G>A	c.(844-846)cGt>cAt	p.R282H	CNTNAP4_uc002feu.1_Missense_Mutation_p.R278H|CNTNAP4_uc002fev.1_Missense_Mutation_p.R191H|CNTNAP4_uc010chb.1_Missense_Mutation_p.R254H|CNTNAP4_uc002few.2_Missense_Mutation_p.R254H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	279	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCATCCAGCGTTTGGGCAAA	0.483													A	76482757	G	A	76482757	3	1	170	1	0	0	0	0	1	0	0	0	3649	1145	40	1	871	1	CNTNAP4	16	76482757	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	8472688	76482757	13871996	77	11910											
SDR42E1	93517	broad.mit.edu	37	16	82033639	82033639	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:82033639G>A	uc002fgu.3	-	2	387	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	87					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	p.R87R(2)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						AGTTGCTCCCGCCCTGACATA	0.498													A	82033639	G	A	82033639	3	1	170	1	0	0	0	0	1	0	0	0	13973	1086	38	1	926	1	SDR42E1	16	82033639	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5550882	82033639	8321114	78	11911											
CDH13	1012	broad.mit.edu	37	16	83704506	83704506	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:83704506G>A	uc010vns.2	+	9	1618	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	CDH13_uc002fgx.3_Missense_Mutation_p.G405R|CDH13_uc010vnt.2_Missense_Mutation_p.G151R|CDH13_uc010vnu.2_Missense_Mutation_p.G366R	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	405	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATCATCAACGGAAACCCCGG	0.498													A	83704506	G	A	83704506	3	1	170	1	0	0	0	0	1	0	0	0	3099	1117	39	2	1247	2	CDH13	16	83704506	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	1670867	83704506	6650247	79	11912											
TNFAIP1	7126	broad.mit.edu	37	17	26666722	26666722	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr17:26666722G>A	uc002hax.2	+	1	194	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	TNFAIP1_uc002hay.3_Missense_Mutation_p.G59R|TNFAIP1_uc010waf.2_Intron	NM_021137	NP_066960	Q13829	BACD2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.	59	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CATGTTCAGTGGGCGCATGGA	0.617													A	26666722	G	A	26666722	3	1	170	1	0	0	0	0	1	0	0	0	16269	1348	47	3	177	3	TNFAIP1	17	26666722	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		26666722	54528488	80	11913											
KRT32	3882	broad.mit.edu	37	17	39619277	39619277	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr17:39619277G>A	uc002hwr.3	-	5	1083	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	341	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTCACTCTCCGTCAGCGTGTT	0.572													A	39619277	G	A	39619277	3	1	170	1	0	0	0	0	1	0	0	0	8468	1145	40	1	332	1	KRT32	17	39619277	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	12952555	39619277	41575933	81	11914											
DCC	1630	broad.mit.edu	37	18	50451729	50451729	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr18:50451729T>C	uc002lfe.2	+	4	1590	c.974T>C	c.(973-975)cTc>cCc	p.L325P	DCC_uc010xdr.1_Missense_Mutation_p.L173P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	325	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTGCAGAGCTCACAGTCTTG	0.388													C	50451729	T	C	50451729	3	2	170	1	0	0	0	0	1	0	0	0	4282	1551	54	4	992	4	DCC	18	50451729	Missense_Mutation	SNP	T	TCGA-19-5959-01A-11D-1696-08		50451729	27625519	82	11915											
ATCAY	85300	broad.mit.edu	37	19	3909561	3909561	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:3909561G>A	uc010xhz.2	+	7	1226	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	ATCAY_uc002lyy.4_Missense_Mutation_p.R242Q|ATCAY_uc010dts.3_5'UTR			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	242	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGCCCCGGCGGAGGATGCCT	0.592													A	3909561	G	A	3909561	3	1	170	1	0	0	0	0	1	0	0	0	1077	1116	39	2	747	2	ATCAY	19	3909561	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		3909561	55219422	83	11916											
TNFSF9	8744	broad.mit.edu	37	19	6534936	6534936	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:6534936C>T	uc002mfh.2	+	2	662	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	208					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACCTGAGTGCCGGCCAGCGCC	0.697													T	6534936	C	T	6534936	2	4	170	1	0	0	0	0	0	0	0	1	16309	639	23	2		2	TNFSF9	19	6534936	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	2625375	6534936	52594047	84	11917											
DOCK6	57572	broad.mit.edu	37	19	11361720	11361720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:11361720G>A	uc002mqs.4	-	5	591	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	184					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCACTGCTTCGAGGGGTGTCT	0.607													A	11361720	G	A	11361720	4	1	170	1	0	0	0	0	0	1	0	0	4691	1066	37	2	5765	2	DOCK6	19	11361720	Nonsense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	4826784	11361720	47767263	85	11918											
OR10H5	284433	broad.mit.edu	37	19	15905063	15905063	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:15905063A>G	uc010xos.2	+	0	205	c.205A>G	c.(205-207)Acc>Gcc	p.T69A		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCTCTCCATCACCGAGATCCT	0.622													G	15905063	A	G	15905063	3	3	170	1	0	0	0	0	1	0	0	0	10909	159	6	4	207	4	OR10H5	19	15905063	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	4543343	15905063	43223920	86	11919											
HIF3A	64344	broad.mit.edu	37	19	46832519	46832519	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:46832519A>G	uc002peh.3	+	11	1527	c.1496A>G	c.(1495-1497)gAc>gGc	p.D499G	HIF3A_uc002peg.4_Missense_Mutation_p.D499G|HIF3A_uc021uwf.1_Missense_Mutation_p.D443G|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.D430G|HIF3A_uc002pel.3_Missense_Mutation_p.D497G|HIF3A_uc010xxz.2_Missense_Mutation_p.D448G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	499	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ATGGATGATGACTTCCAGCTC	0.622													G	46832519	A	G	46832519	3	3	170	1	0	0	0	0	1	0	0	0	7105	275	10	4	1566	4	HIF3A	19	46832519	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	30927456	46832519	12296464	87	11920											
FPR2	2358	broad.mit.edu	37	19	52272915	52272915	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:52272915C>T	uc002pxr.3	+	1	1049	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	FPR2_uc002pxs.4_Missense_Mutation_p.T335M|FPR2_uc010epf.3_Missense_Mutation_p.T335M|FPR2_uc021uyp.1_Missense_Mutation_p.T335M	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	335					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.T335R(2)|p.T335T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACTAATGACACGGCTGCCAAT	0.537													T	52272915	C	T	52272915	3	4	170	1	0	0	0	0	1	0	0	0	6039	536	19	1	1006	1	FPR2	19	52272915	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	5440396	52272915	6856068	88	11921											
ZNF71	58491	broad.mit.edu	37	19	57133247	57133247	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:57133247C>T	uc002qnm.4	+	2	830	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	ZNF71_uc021vcg.1_Missense_Mutation_p.R198C	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCAGCCAGCGCATGAACCT	0.637													T	57133247	C	T	57133247	3	4	170	1	0	0	0	0	1	0	0	0	18111	768	27	1	594	1	ZNF71	19	57133247	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	4860332	57133247	1995736	89	11922											
CHGB	1114	broad.mit.edu	37	20	5903871	5903871	+	Missense_Mutation	SNP	C	C	T	rs144051265		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:5903871C>T	uc002wmg.3	+	3	1387	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	CHGB_uc010zqz.2_Missense_Mutation_p.R44C	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	361						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGAGTGGGAGCGCTATAGGGG	0.527													T	5903871	C	T	5903871	3	4	170	1	0	0	0	0	1	0	0	0	3339	768	27	1	1095	1	CHGB	20	5903871	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		5903871	57121649	90	11923											
SNTA1	6640	broad.mit.edu	37	20	32000203	32000203	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:32000203C>T	uc002wzd.1	-	4	1211	c.939G>A	c.(937-939)ctG>ctA	p.L313L	SNTA1_uc010zuf.1_Intron	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	313	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TTAGCAGGGCCAGGGTGGGGG	0.652													T	32000203	C	T	32000203	2	4	170	1	0	0	0	0	0	0	0	1	14871	581	21	3		3	SNTA1	20	32000203	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	26096332	32000203	31025317	91	11924											
SRMS	6725	broad.mit.edu	37	20	62178625	62178625	+	Silent	SNP	C	C	T	rs140773907		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:62178625C>T	uc002yfi.1	-	0	233	c.192G>A	c.(190-192)gcG>gcA	p.A64A		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	64	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCCACACCGCGCCGTGAAGT	0.692													T	62178625	C	T	62178625	2	4	170	1	0	0	0	0	0	0	0	1	15151	755	27	1		1	SRMS	20	62178625	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	30178422	62178625	846895	92	11925											
PCNT	5116	broad.mit.edu	37	21	47850134	47850134	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr21:47850134T>C	uc002zji.4	+	35	8008	c.7901T>C	c.(7900-7902)gTc>gCc	p.V2634A	PCNT_uc002zjj.3_Missense_Mutation_p.V2516A	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2634					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGCAGGAGGTCCTCCAGCTG	0.607													C	47850134	T	C	47850134	3	2	170	1	0	0	0	0	1	0	0	0	11590	1667	58	4	8043	4	PCNT	21	47850134	Missense_Mutation	SNP	T	TCGA-19-5959-01A-11D-1696-08		47850134	279761	93	11926											
ZRSR2	8233	broad.mit.edu	37	X	15841126	15841126	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:15841126G>A	uc004cxg.4	+	10	1255	c.1210G>A	c.(1210-1212)Ggg>Agg	p.G404R		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.	404					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TCGTCACAGGGGGAAGAAATC	0.552			"F, S, Mis"		"MDS, CLL"								A	15841126	G	A	15841126	3	1	170	1	0	0	0	0	1	0	0	0	18222	1232	43	3	1252	3	ZRSR2	23	15841126	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		15841126	139429434	94	11927											
FTHL17	53940	broad.mit.edu	37	X	31089936	31089936	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:31089936G>A	uc004dcl.1	-	0	235	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	45	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGGCCACGTCGTCCCGGTTGA	0.582													A	31089936	G	A	31089936	2	1	170	1	0	0	0	0	0	0	0	1	6083	1136	40	1		1	FTHL17	23	31089936	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	15248810	31089936	124180624	95	11928											
HUWE1	10075	broad.mit.edu	37	X	53591568	53591568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:53591568delC	uc004dsp.3	-	50	7398	c.6996delG	c.(6994-6996)gggfs	p.G2332fs	HUWE1_uc004dsn.3_Frame_Shift_Del_p.G1156fs	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2332	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTCAGGCTGCCCAGCAATCA	0.562													-	53591568	C	-	53591568	7	5	170	1	0	1	0	1	0	0	0	0	7461	726	26	0	6264	0	HUWE1	23	53591568	Frame_Shift_Del	DEL	C	TCGA-19-5959-01A-11D-1696-08	22501632	53591568	101678992	96	11929											
FAM155B	27112	broad.mit.edu	37	X	68725733	68725733	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:68725733C>T	uc004dxk.3	+	0	656	c.608C>T	c.(607-609)aCg>aTg	p.T203M		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	203						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACACCTACACGGTCTGGGAC	0.632													T	68725733	C	T	68725733	3	4	170	1	0	0	0	0	1	0	0	0	5466	536	19	1	610	1	FAM155B	23	68725733	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	15134165	68725733	86544827	97	11930											
AIFM1	9131	broad.mit.edu	37	X	129272643	129272643	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:129272643G>A	uc004evg.3	-	8	1123	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	AIFM1_uc011mur.2_5'Flank|AIFM1_uc011mus.2_Missense_Mutation_p.R298W|AIFM1_uc004evh.3_Missense_Mutation_p.R294W|AIFM1_uc004evi.3_Intron|AIFM1_uc004evk.3_5'UTR	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TTGACTTCCCGTGAAATCTTC	0.433													A	129272643	G	A	129272643	3	1	170	1	0	0	0	0	1	0	0	0	426	1144	40	1	993	1	AIFM1	23	129272643	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	60546910	129272643	25997917	98	11931											
GPR112	139378	broad.mit.edu	37	X	135431775	135431775	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:135431775C>T	uc004ezu.1	+	5	6201	c.5910C>T	c.(5908-5910)gaC>gaT	p.D1970D	GPR112_uc010nsb.1_Silent_p.D1765D|GPR112_uc010nsc.1_Silent_p.D1737D	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1970					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D1970D(2)		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)					CATTGGCTGACGTTAAGCACA	0.413													T	135431775	C	T	135431775	2	4	170	1	0	0	0	0	0	0	0	1	6629	535	19	1		1	GPR112	23	135431775	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	6159132	135431775	19838785	99	11932											
SRPK3	26576	broad.mit.edu	37	X	153049211	153049211	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:153049211C>A	uc004fik.3	+	14	3402	c.977C>A	c.(976-978)aCc>aAc	p.T326N	SRPK3_uc004fim.3_Splice_Site_p.T259_splice|SRPK3_uc004fil.3_Missense_Mutation_p.T260N|SRPK3_uc004fin.3_Splice_Site_p.T259_splice|SRPK3_uc010nul.3_Splice_Site_p.T217_splice	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	260	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					TGACAGCAGACCGGTAAGCTG	0.622													A	153049211	C	A	153049211	3	1	170	1	0	0	0	0	1	0	0	0	15160	521	18	5	813	5	SRPK3	23	153049211	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	17617436	153049211	2221349	100	11933											
MTF1	4520	broad.mit.edu	37	1	38297931	38297931	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:38297931C>G	uc001cce.1	-	6	1195	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q	MTF1_uc009vvj.1_Missense_Mutation_p.E43Q	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	352						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGAATTTTCTCGCAATTCA	0.393													G	38297931	C	G	38297931	3	3	171	1	0	0	0	0	1	0	0	0	9922	922	32	5	1227	5	MTF1	1	38297931	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		38297931	210952690	1	11934											
BSND	7809	broad.mit.edu	37	1	55470704	55470704	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:55470704G>A	uc001cye.3	+	1	430	c.187G>A	c.(187-189)Gtc>Atc	p.V63I		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	63						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GATCACCTTCGTCCCTGCTGA	0.582													A	55470704	G	A	55470704	3	1	171	1	0	0	0	0	1	0	0	0	1531	1145	40	1	193	1	BSND	1	55470704	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	17172773	55470704	193779917	2	11935											
HFM1	164045	broad.mit.edu	37	1	91840986	91840986	+	Silent	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:91840986C>T	uc001doa.4	-	12	1713	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K	HFM1_uc010osu.2_Silent_p.K217K|HFM1_uc010osv.1_Silent_p.K222K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	538	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTGCACACCCTTCCTTGTTG	0.308													T	91840986	C	T	91840986	2	4	171	1	0	0	0	0	0	0	0	1	7083	680	24	3		3	HFM1	1	91840986	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	36370282	91840986	157409635	3	11936											
TCHH	7062	broad.mit.edu	37	1	152083402	152083402	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:152083402C>G	uc009wne.1	-	2	2563	c.2291G>C	c.(2290-2292)cGc>cCc	p.R764P	TCHH_uc001ezp.2_Missense_Mutation_p.R764P	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	764					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGTCCCGGCGCTGCTCCTC	0.682													G	152083402	C	G	152083402	3	3	171	1	0	0	0	0	1	0	0	0	15697	768	27	5	3544	5	TCHH	1	152083402	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	60242416	152083402	97167219	4	11937											
NCF2	4688	broad.mit.edu	37	1	183546838	183546838	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:183546838C>A	uc001gqj.4	-	2	537	c.262G>T	c.(262-264)Gat>Tat	p.D88Y	NCF2_uc010pod.2_Missense_Mutation_p.D88Y|NCF2_uc010poe.2_Missense_Mutation_p.D88Y|NCF2_uc001gqk.4_Missense_Mutation_p.D88Y	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	88					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATAGCCAAATCATATCTGCAG	0.443													A	183546838	C	A	183546838	3	1	171	1	0	0	0	0	1	0	0	0	10217	826	29	5	1370	5	NCF2	1	183546838	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	31463436	183546838	65703783	5	11938											
OBSCN	84033	broad.mit.edu	37	1	228505193	228505193	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:228505193G>T	uc009xez.1	+	51	13634	c.13590G>T	c.(13588-13590)gaG>gaT	p.E4530D	OBSCN_uc001hsn.3_Missense_Mutation_p.E4530D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4530	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGATGCTGAGGTGGTGGCTC	0.647													T	228505193	G	T	228505193	3	4	171	1	0	0	0	0	1	0	0	0	10812	991	35	5	13792	5	OBSCN	1	228505193	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	44958355	228505193	20745428	6	11939											
EPT1	85465	broad.mit.edu	37	2	26596336	26596336	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr2:26596336G>A	uc021veu.1	+	4	559	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	EPT1_uc010eyl.1_Non-coding_Transcript	NM_033505		Q9C0D9	EPT1_HUMAN	Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.	138					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										TTACTTTGTTGTGACTGTTTA	0.433													A	26596336	G	A	26596336	3	1	171	1	0	0	0	0	1	0	0	0	5199	1377	48	3	430	3	EPT1	2	26596336	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		26596336	216603037	7	11940											
TTN	7273	broad.mit.edu	37	2	179432795	179432795	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr2:179432795C>T	uc021vsy.1	-	274	70585	c.70360G>A	c.(70360-70362)Gtc>Atc	p.V23454I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V17149I|TTN_uc021vta.1_Missense_Mutation_p.V17082I|TTN_uc021vtb.1_Missense_Mutation_p.V16957I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24381	Fibronectin type-III 70.						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)			TAACCTATGACGGGGCTTCCA	0.443													T	179432795	C	T	179432795	3	4	171	1	0	0	0	0	1	0	0	0	16732	536	19	1	30063	1	TTN	2	179432795	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	152836459	179432795	63766578	8	11941											
OXSR1	9943	broad.mit.edu	37	3	38266149	38266149	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:38266149T>C	uc003chy.3	+	7	1132	c.790T>C	c.(790-792)Ttt>Ctt	p.F264L	OXSR1_uc010hhb.3_Missense_Mutation_p.F198L|OXSR1_uc010hha.1_Missense_Mutation_p.F196L	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	264	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGAAAATCATTTAGAAAAAT	0.313													C	38266149	T	C	38266149	3	2	171	1	0	0	0	0	1	0	0	0	11336	1493	52	4	820	4	OXSR1	3	38266149	Missense_Mutation	SNP	T	TCGA-19-5960-01A-11D-1696-08		38266149	159756281	9	11942											
TRAK1	22906	broad.mit.edu	37	3	42242442	42242442	+	Silent	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:42242442C>T	uc003cky.3	+	11	1539	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	TRAK1_uc011azh.2_Silent_p.C441C|TRAK1_uc011azi.2_Silent_p.C441C|TRAK1_uc003ckz.4_Silent_p.C367C|TRAK1_uc011azj.2_Silent_p.C367C|TRAK1_uc003cla.3_Silent_p.C383C	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	441	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGTCCAGCTGCGTCAGCACCC	0.582													T	42242442	C	T	42242442	2	4	171	1	0	0	0	0	0	0	0	1	16446	776	27	1		1	TRAK1	3	42242442	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	3976293	42242442	155779988	10	11943											
CASR	846	broad.mit.edu	37	3	122003250	122003250	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:122003250G>A	uc003eew.4	+	6	2917	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	CASR_uc003eev.4_Missense_Mutation_p.V817I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	817					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTCTTCATCGTCTGGATCTC	0.527													A	122003250	G	A	122003250	3	1	171	1	0	0	0	0	1	0	0	0	2682	1145	40	1	2501	1	CASR	3	122003250	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	79760808	122003250	76019180	11	11944											
COL6A6	131873	broad.mit.edu	37	3	130313143	130313143	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:130313143G>C	uc010htl.3	+	16	4520	c.4489G>C	c.(4489-4491)Ggg>Cgg	p.G1497R	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1497	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGGAAGAGAGGGACTCCTGG	0.463													C	130313143	G	C	130313143	3	2	171	1	0	0	0	0	1	0	0	0	3703	1000	35	5	4555	5	COL6A6	3	130313143	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	8309893	130313143	67709287	12	11945											
TP63	8626	broad.mit.edu	37	3	189587160	189587160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:189587160C>T	uc003fry.2	+	8	1266	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	TP63_uc003frx.2_Nonsense_Mutation_p.R393*|TP63_uc003frz.2_Nonsense_Mutation_p.R393*|TP63_uc010hzc.1_Nonsense_Mutation_p.R393*|TP63_uc003fsa.2_Nonsense_Mutation_p.R299*|TP63_uc003fsb.2_Nonsense_Mutation_p.R299*|TP63_uc003fsc.2_Nonsense_Mutation_p.R299*|TP63_uc003fsd.2_Nonsense_Mutation_p.R299*|TP63_uc021xir.1_Nonsense_Mutation_p.R299*|TP63_uc010hzd.1_Nonsense_Mutation_p.R214*|TP63_uc003fse.1_Nonsense_Mutation_p.R270*	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	393					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCAAGAAACGAAGATCCCC	0.413										HNSCC(45;0.13)			T	189587160	C	T	189587160	4	4	171	1	0	0	0	0	0	1	0	0	16389	528	19	1	1257	1	TP63	3	189587160	Nonsense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	59274017	189587160	8435270	13	11946											
FYTTD1	84248	broad.mit.edu	37	3	197497100	197497100	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:197497100G>T	uc003fyi.2	+	3	701	c.482G>T	c.(481-483)aGc>aTc	p.S161I	FYTTD1_uc011bui.1_Missense_Mutation_p.S135I|FYTTD1_uc011buj.1_Intron|FYTTD1_uc011buk.1_Missense_Mutation_p.S94I	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	161					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		AAGAGACCTAGCCAGCTAAGC	0.363													T	197497100	G	T	197497100	3	4	171	1	0	0	0	0	1	0	0	0	6127	971	34	5	525	5	FYTTD1	3	197497100	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	7909940	197497100	525330	14	11947											
EGF	1950	broad.mit.edu	37	4	110895931	110895931	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr4:110895931A>T	uc003hzy.4	+	11	2249	c.1797A>T	c.(1795-1797)caA>caT	p.Q599H	EGF_uc011cfu.2_Missense_Mutation_p.Q557H|EGF_uc011cfv.2_Missense_Mutation_p.Q599H	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	599					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			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)	ACATCTCTCAACCACGAGGAA	0.388													T	110895931	A	T	110895931	3	4	171	1	0	0	0	0	1	0	0	0	4962	40	2	5	1843	5	EGF	4	110895931	Missense_Mutation	SNP	A	TCGA-19-5960-01A-11D-1696-08		110895931	80258345	15	11948											
C6	729	broad.mit.edu	37	5	41196027	41196027	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:41196027T>C	uc003jmk.2	-	4	664	c.454A>G	c.(454-456)Att>Gtt	p.I152V	C6_uc003jml.1_Missense_Mutation_p.I152V	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	152	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCTGGCAATGCAGCGGCCT	0.358													C	41196027	T	C	41196027	3	2	171	1	0	0	0	0	1	0	0	0	2315	1464	51	4	2406	4	C6	5	41196027	Missense_Mutation	SNP	T	TCGA-19-5960-01A-11D-1696-08		41196027	139719233	16	11949											
C5orf34	375444	broad.mit.edu	37	5	43487196	43487196	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:43487196C>A	uc003jnz.2	-	12	2140	c.1738G>T	c.(1738-1740)Ggt>Tgt	p.G580C		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	580										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTTAGGATACCACTATTTTCT	0.313													A	43487196	C	A	43487196	3	1	171	1	0	0	0	0	1	0	0	0	2293	594	21	5	182	5	C5orf34	5	43487196	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	2291169	43487196	137428064	17	11950											
FGFR4	2264	broad.mit.edu	37	5	176519769	176519769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:176519769G>A	uc003mfl.3	+	7	1208	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*	FGFR4_uc003mfm.3_Nonsense_Mutation_p.W347*|FGFR4_uc011dfu.2_Nonsense_Mutation_p.W347*|FGFR4_uc011dfw.1_Nonsense_Mutation_p.W347*|FGFR4_uc003mfo.3_Nonsense_Mutation_p.W347*	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	347	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)	AGTCTGCCTGGCTCACGGTGC	0.647										TSP Lung(9;0.080)			A	176519769	G	A	176519769	4	1	171	1	0	0	0	0	0	1	0	0	5868	1212	42	3	1067	3	FGFR4	5	176519769	Nonsense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	133032573	176519769	4395491	18	11951											
TMEM217	221468	broad.mit.edu	37	6	37186701	37186701	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:37186701G>T	uc003onl.3	-	1	187	c.106C>A	c.(106-108)Cac>Aac	p.H36N	TMEM217_uc010jwr.3_Missense_Mutation_p.H36N|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.H36N	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.	36						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TTCCCTAGGTGCTTCTGTTCA	0.468													T	37186701	G	T	37186701	3	4	171	1	0	0	0	0	1	0	0	0	16137	1319	46	5	595	5	TMEM217	6	37186701	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		37186701	133928366	19	11952											
DNAH8	1769	broad.mit.edu	37	6	38830180	38830180	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:38830180G>A	uc021yzh.1	+	43	6365	c.6256G>A	c.(6256-6258)Gtg>Atg	p.V2086M	DNAH8_uc003ooe.2_Missense_Mutation_p.V1869M	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						ATATGTGGTCGTGTTCAATTG	0.418													A	38830180	G	A	38830180	3	1	171	1	0	0	0	0	1	0	0	0	4607	1145	40	1	5763	1	DNAH8	6	38830180	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	1643479	38830180	132284887	20	11953											
LRFN2	57497	broad.mit.edu	37	6	40400626	40400626	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:40400626G>A	uc003oph.1	-	1	692	c.227C>T	c.(226-228)aCg>aTg	p.T76M		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	76						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGCCCCGTCATGTTGGC	0.597													A	40400626	G	A	40400626	3	1	171	1	0	0	0	0	1	0	0	0	8938	1145	40	1	2150	1	LRFN2	6	40400626	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	1570446	40400626	130714441	21	11954											
TBP	6908	broad.mit.edu	37	6	170880497	170880497	+	Splice_Site	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:170880497G>A	uc003qxu.3	+	7	1125	c.846_splice	c.e7-1	p.S282_splice	TBP_uc011ehf.2_Splice_Site_p.S262_splice|TBP_uc003qxt.3_Splice_Site_p.S282_splice	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	282					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTTCCTTCTAGTTATGAGCCA	0.318													A	170880497	G	A	170880497	5	1	171	1	0	0	0	0	0	0	1	0	15641	1043	36	3	867	3	TBP	6	170880497	Splice_Site	SNP	G	TCGA-19-5960-01A-11D-1696-08	130479871	170880497	234570	22	11955											
TECPR1	25851	broad.mit.edu	37	7	97862242	97862242	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:97862242G>A	uc003upg.3	-	11	1920	c.1715C>T	c.(1714-1716)cCg>cTg	p.P572L	TECPR1_uc003uph.1_Missense_Mutation_p.P502L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	572						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTCTGGGCCGGCGTGATGGA	0.652													A	97862242	G	A	97862242	3	1	171	1	0	0	0	0	1	0	0	0	15740	1116	39	2	1842	2	TECPR1	7	97862242	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		97862242	61276421	23	11956											
CYP3A7	1577	broad.mit.edu	37	7	99264589	99264589	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:99264589C>T	uc003urq.3	-	4	520	c.418G>A	c.(418-420)Gga>Aga	p.G140R	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.G27R|CYP3A7_uc011kiy.2_Missense_Mutation_p.G130R|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	140					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.G140R(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTGAGTTTTCCGCTGGTGAAG	0.413													T	99264589	C	T	99264589	3	4	171	1	0	0	0	0	1	0	0	0	4181	661	23	2		2	CYP3A7	7	99264589	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	1402347	99264589	59874074	24	11957											
KIAA1147	57189	broad.mit.edu	37	7	141365018	141365018	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:141365018C>G	uc003vwk.3	-	5	921	c.921G>C	c.(919-921)gaG>gaC	p.E307D		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	307								p.I306L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CCTCCAGGCTCTCGATGTCAG	0.602													G	141365018	C	G	141365018	3	3	171	1	0	0	0	0	1	0	0	0	8210	912	32	5	462	5	KIAA1147	7	141365018	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	42100429	141365018	17773645	25	11958											
NOS3	4846	broad.mit.edu	37	7	150695737	150695737	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:150695737G>A	uc003wif.3	+	6	1081	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	NOS3_uc011kuy.2_Missense_Mutation_p.R56Q|NOS3_uc011kva.2_Missense_Mutation_p.R262Q|NOS3_uc011kuz.2_Missense_Mutation_p.R262Q|NOS3_uc011kvb.2_Missense_Mutation_p.R262Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	262	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGCTCTGTGCGGGGGGACCCA	0.652													A	150695737	G	A	150695737	3	1	171	1	0	0	0	0	1	0	0	0	10544	1116	39	2	807	2	NOS3	7	150695737	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	9330719	150695737	8442926	26	11959											
IMPAD1	54928	broad.mit.edu	37	8	57905955	57905955	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr8:57905955G>A	uc003xte.4	-	0	476	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	64						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AGCATCTCGCGCAAGTCCACG	0.741													A	57905955	G	A	57905955	3	1	171	1	0	0	0	0	1	0	0	0	7725	1087	38	1	909	1	IMPAD1	8	57905955	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		57905955	88458067	27	11960											
TPD52	7163	broad.mit.edu	37	8	80954870	80954870	+	Silent	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr8:80954870C>T	uc022awn.1	-	6	931	c.609G>A	c.(607-609)aaG>aaA	p.K203K	TPD52_uc010lzr.3_Non-coding_Transcript|TPD52_uc010lzs.1_Non-coding_Transcript|TPD52_uc003ybs.1_Silent_p.K163K|TPD52_uc003ybt.1_Silent_p.K140K|TPD52_uc003ybq.1_Non-coding_Transcript|TPD52_uc003ybr.1_Silent_p.K180K|TPD52_uc022awm.1_Non-coding_Transcript|TPD52_uc022awo.1_Silent_p.K194K|TPD52_uc022awp.1_Silent_p.K189K	NM_001025253	NP_001020424	P55327	TPD52_HUMAN	Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA.	180					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			AGTTTTCGACCTTTTCTTCAA	0.308													T	80954870	C	T	80954870	2	4	171	1	0	0	0	0	0	0	0	1	16394	680	24	3		3	TPD52	8	80954870	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	23048915	80954870	65409152	28	11961											
FBP1	2203	broad.mit.edu	37	9	97401548	97401548	+	Silent	SNP	G	G	C			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr9:97401548G>C	uc004auw.4	-	0	376	c.45C>G	c.(43-45)acC>acG	p.T15T	FBP1_uc010mrl.3_Silent_p.T15T	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	15					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TGACGAAGCGGGTCAGGGTGT	0.667													C	97401548	G	C	97401548	2	2	171	1	0	0	0	0	0	0	0	1	5705	1219	43	5		5	FBP1	9	97401548	Silent	SNP	G	TCGA-19-5960-01A-11D-1696-08		97401548	43811883	29	11962											
TRAF2	7186	broad.mit.edu	37	9	139818449	139818449	+	Silent	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr9:139818449G>A	uc004cjv.3	+	9	1341	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	TRAF2_uc010nbu.3_Silent_p.Q428Q|TRAF2_uc011mek.2_Silent_p.Q417Q|TRAF2_uc010nbw.3_Silent_p.Q403Q	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	428	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCTTCAACCAGAAGGTGAGGC	0.647													A	139818449	G	A	139818449	2	1	171	1	0	0	0	0	0	0	0	1	16435	933	33	3		3	TRAF2	9	139818449	Silent	SNP	G	TCGA-19-5960-01A-11D-1696-08	42416901	139818449	1394982	30	11963											
CAMK1D	57118	broad.mit.edu	37	10	12802954	12802954	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr10:12802954G>A	uc001ilo.3	+	3	542	c.307G>A	c.(307-309)Ggt>Agt	p.G103S	CAMK1D_uc001iln.3_Missense_Mutation_p.G103S	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	103	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAGGGTGTCCGGTGGAGAGCT	0.443													A	12802954	G	A	12802954	3	1	171	1	0	0	0	0	1	0	0	0	2597	1116	39	2	321	2	CAMK1D	10	12802954	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		12802954	122731793	31	11964											
C10orf76	79591	broad.mit.edu	37	10	103716424	103716424	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr10:103716424delG	uc009xwy.1	-	21	1737	c.1635delC	c.(1633-1635)cccfs	p.P545fs	C10orf76_uc009xwx.1_Non-coding_Transcript	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	545						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CATAGCTGCTGGGGGTTGGCA	0.408													-	103716424	G	-	103716424	7	5	171	1	0	1	0	1	0	0	0	0	1616	1335	47	0	454	0	C10orf76	10	103716424	Frame_Shift_Del	DEL	G	TCGA-19-5960-01A-11D-1696-08	90913470	103716424	31818323	32	11965											
OR52M1	119772	broad.mit.edu	37	11	4566796	4566796	+	Missense_Mutation	SNP	G	G	A	rs61751910	byFrequency	TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:4566796G>A	uc010qyf.2	+	0	376	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATCGCTACGTGGCCATCTG	0.527													A	4566796	G	A	4566796	3	1	171	1	0	0	0	0	1	0	0	0	11126	1145	40	1	378	1	OR52M1	11	4566796	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		4566796	130439720	33	11966											
GLYAT	10249	broad.mit.edu	37	11	58478160	58478160	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:58478160G>A	uc001nnb.3	-	4	546	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	GLYAT_uc001nnc.3_Missense_Mutation_p.R131C	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	131					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.R131C(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TAGAGAATGCGTTGTGTTTGT	0.428													A	58478160	G	A	58478160	3	1	171	1	0	0	0	0	1	0	0	0	6479	1145	40	1	511	1	GLYAT	11	58478160	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	53911364	58478160	76528356	34	11967											
GPR83	10888	broad.mit.edu	37	11	94113665	94113665	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:94113665G>A	uc001pet.2	-	3	1094	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	308						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGCAGTTGAGGGGGAACCAG	0.532													A	94113665	G	A	94113665	3	1	171	1	0	0	0	0	1	0	0	0	6713	1000	35	3	353	3	GPR83	11	94113665	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	35635505	94113665	40892851	35	11968											
MPZL2	10205	broad.mit.edu	37	11	118133277	118133277	+	Silent	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:118133277G>A	uc001psn.3	-	2	695	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MPZL2_uc001pso.3_Silent_p.Y104Y	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	104	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		p.R103Q(1)|p.Y104H(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	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;3.04e-05)		TGGAGGCATCGTACCGCTCAG	0.527													A	118133277	G	A	118133277	2	1	171	1	0	0	0	0	0	0	0	1	9750	1140	40	1		1	MPZL2	11	118133277	Silent	SNP	G	TCGA-19-5960-01A-11D-1696-08	24019612	118133277	16873239	36	11969											
FLI1	2313	broad.mit.edu	37	11	128680531	128680531	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:128680531G>T	uc010sbu.2	+	8	1350	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	FLI1_uc010sbt.2_Missense_Mutation_p.S143I|FLI1_uc010sbv.2_Missense_Mutation_p.S303I|FLI1_uc009zci.3_Missense_Mutation_p.S270I	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	336					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GACAAGCTGAGCCGGGCCCTC	0.522			T	EWSR1	Ewing sarcoma								T	128680531	G	T	128680531	3	4	171	1	0	0	0	0	1	0	0	0	5924	971	34	5	1041	5	FLI1	11	128680531	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	10547254	128680531	6325985	37	11970											
RASSF9	9182	broad.mit.edu	37	12	86199652	86199652	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr12:86199652G>A	uc001taf.1	-	1	475	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	46	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTGGTGCGTTTAGTCAGC	0.453													A	86199652	G	A	86199652	3	1	171	1	0	0	0	0	1	0	0	0	13093	1145	40	1	1175	1	RASSF9	12	86199652	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		86199652	47652243	38	11971											
DCLK1	9201	broad.mit.edu	37	13	36700120	36700120	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:36700120G>T	uc001uvf.3	-	1	438	c.155C>A	c.(154-156)tCc>tAc	p.S52Y		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	52					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTCTTCTCGGAGCTGAGCGT	0.582													T	36700120	G	T	36700120	3	4	171	1	0	0	0	0	1	0	0	0	4291	1174	41	5	2102	5	DCLK1	13	36700120	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		36700120	78469758	39	11972											
SLITRK5	26050	broad.mit.edu	37	13	88329407	88329407	+	Silent	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:88329407C>T	uc001vln.3	+	1	1983	c.1764C>T	c.(1762-1764)gaC>gaT	p.D588D	SLITRK5_uc010tic.1_Silent_p.D347D|SLITRK5_uc021rlc.1_Silent_p.D588D	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	588	LRRCT 2.					integral to membrane				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)					TCCTAGTGGACGAGGTGATCT	0.512													T	88329407	C	T	88329407	2	4	171	1	0	0	0	0	0	0	0	1	14746	535	19	1		1	SLITRK5	13	88329407	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	51629287	88329407	26840471	40	11973											
CLYBL	171425	broad.mit.edu	37	13	100515267	100515267	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:100515267A>G	uc001vok.3	+	3	492	c.461A>G	c.(460-462)cAc>cGc	p.H154R	CLYBL_uc010tix.2_Missense_Mutation_p.H154R|CLYBL_uc010tiy.2_Intron	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	154					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	p.F153F(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTCATTCCACTTAAAAGGC	0.358													G	100515267	A	G	100515267	3	3	171	1	0	0	0	0	1	0	0	0	3573	159	6	4	475	4	CLYBL	13	100515267	Missense_Mutation	SNP	A	TCGA-19-5960-01A-11D-1696-08	12185860	100515267	14654611	41	11974											
TEKT5	146279	broad.mit.edu	37	16	10783110	10783110	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr16:10783110C>T	uc002czz.1	-	3	791	c.719_splice	c.e3+1	p.R240_splice		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	240					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCCCTTACCGCATCTGGAT	0.413													T	10783110	C	T	10783110	3	4	171	1	0	0	0	0	1	0	0	0	15753	666	23	2	758	2	TEKT5	16	10783110	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		10783110	79571643	42	11975											
RECQL5	9400	broad.mit.edu	37	17	73625102	73625102	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr17:73625102G>A	uc010dgl.3	-	15	2610	c.2401C>T	c.(2401-2403)Cca>Tca	p.P801S	RECQL5_uc010dgk.3_Missense_Mutation_p.P774S|RECQL5_uc002jot.4_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	801					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TACTTCTCTGGGGCCATCGGG	0.647								Other identified genes with known or suspected DNA repair function					A	73625102	G	A	73625102	3	1	171	1	0	0	0	0	1	0	0	0	13203	1232	43	3	594	3	RECQL5	17	73625102	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		73625102	7570108	43	11976											
TNFRSF11A	8792	broad.mit.edu	37	18	60036664	60036664	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr18:60036664C>T	uc002lin.3	+	8	1552	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	505					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCAAGCTCAGCGAGGGCAGGT	0.632													T	60036664	C	T	60036664	3	4	171	1	0	0	0	0	1	0	0	0	16281	768	27	1	1548	1	TNFRSF11A	18	60036664	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		60036664	18040584	44	11977											
CREB3L3	84699	broad.mit.edu	37	19	4171806	4171806	+	Missense_Mutation	SNP	C	C	T	rs148141076		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr19:4171806C>T	uc002lzl.3	+	9	1342	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	CREB3L3_uc002lzm.3_Missense_Mutation_p.A399V|CREB3L3_uc010xib.2_Missense_Mutation_p.A398V|CREB3L3_uc010xic.2_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	409					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACACCGCGAACCTGACC	0.677													T	4171806	C	T	4171806	3	4	171	1	0	0	0	0	1	0	0	0	3858	768	27	1	1264	1	CREB3L3	19	4171806	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		4171806	54957177	45	11978											
LILRB3	79168	broad.mit.edu	37	19	54744788	54744788	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr19:54744788C>T	uc010erh.1	-						LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.G292S|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.G292S|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.G292S|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G292S|LILRB3_uc010yep.1_Missense_Mutation_p.G292S|LILRB3_uc010yeq.1_Missense_Mutation_p.G292S|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.G292S|LILRB3_uc002qev.1_Missense_Mutation_p.G153S	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			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)		CTGTACTGGCCCCCGTGGGAG	0.682													T	54744788	C	T	54744788	3	4	171	1	0	0	0	0	1	0	0	0	8792	623	22	3		3	LILRB3	19	54744788	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	50572982	54744788	4384195	46	11979											
ADNP	23394	broad.mit.edu	37	20	49508976	49508976	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr20:49508976G>T	uc002xvt.1	-	4	2620	c.2275C>A	c.(2275-2277)Cat>Aat	p.H759N	ADNP_uc002xvu.1_Missense_Mutation_p.H759N	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	759						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCATCTTCATGACCCTTGGGG	0.418													T	49508976	G	T	49508976	3	4	171	1	0	0	0	0	1	0	0	0	323	1290	45	5	1037	5	ADNP	20	49508976	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		49508976	13516544	47	11980											
ATP9A	10079	broad.mit.edu	37	20	50313988	50313988	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr20:50313988A>G	uc002xwg.1	-	4	470	c.470T>C	c.(469-471)gTt>gCt	p.V157A	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	157					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAGGTCTCCAACTTGGATGTT	0.418													G	50313988	A	G	50313988	3	3	171	1	0	0	0	0	1	0	0	0	1198	43	2	4	2769	4	ATP9A	20	50313988	Missense_Mutation	SNP	A	TCGA-19-5960-01A-11D-1696-08	805012	50313988	12711532	48	11981											
RCAN1	1827	broad.mit.edu	37	21	35890504	35890504	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr21:35890504C>T	uc002yue.3	-	3	709	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	RCAN1_uc002yuc.3_Missense_Mutation_p.V132I|RCAN1_uc002yud.3_Missense_Mutation_p.V78I|RCAN1_uc002yub.3_Missense_Mutation_p.V158I	NM_004414	NP_004405	P53805	RCAN1_HUMAN	Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.	213					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CATACATGGACCACCACGCTG	0.493													T	35890504	C	T	35890504	3	4	171	1	0	0	0	0	1	0	0	0	13168	507	18	3	125	3	RCAN1	21	35890504	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		35890504	12239391	49	11982											
ZDHHC8	29801	broad.mit.edu	37	22	20131184	20131184	+	Silent	SNP	C	C	T			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr22:20131184C>T	uc002zrr.2	+	9	2138	c.2031C>T	c.(2029-2031)ccC>ccT	p.P677P	ZDHHC8_uc002zrq.3_Silent_p.P677P|ZDHHC8_uc010gsa.3_Silent_p.P483P	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	677						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCTCCCCGCCCGGCACTCCCC	0.716													T	20131184	C	T	20131184	2	4	171	1	0	0	0	0	0	0	0	1	17618	639	23	2		2	ZDHHC8	22	20131184	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08		20131184	31173382	50	11983											
PCDH19	57526	broad.mit.edu	37	X	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chrX:99663560_99663562delCAG	uc010nmz.3	-	0	1710_1712	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_uc004efw.4_In_Frame_Del_p.L12del|PCDH19_uc004efx.4_In_Frame_Del_p.L12del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665													-	99663562	CAG	-	99663560	7	5	171	1	0	1	0	1	0	0	0	0	11514	581	21	0	3434	0	PCDH19	23	99663560	In_Frame_Del	DEL	CAG	TCGA-19-5960-01A-11D-1696-08		99663560	55607000	51	11984											
TTLL10	254173	broad.mit.edu	37	1	1120451	1120451	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:1120451C>T	uc001acy.2	+	12	1514	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	TTLL10_uc010nyg.1_Missense_Mutation_p.R455W|TTLL10_uc001acz.2_Missense_Mutation_p.R382W	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	455	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAAGGCCCGGGGCCTCGC	0.612													T	1120451	C	T	1120451	3	4	172	1	0	0	0	0	1	0	0	0	16720	643	23	2	1401	2	TTLL10	1	1120451	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		1120451	248130170	1	11985											
ADC	113451	broad.mit.edu	37	1	33583680	33583681	+	Frame_Shift_Ins	INS	-	-	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:33583680_33583681insC	uc009vug.3	+	7	1339_1340	c.1267_1268insC	c.(1267-1269)gccfs	p.A423fs	ADC_uc001bwr.3_Frame_Shift_Ins_p.A403fs|ADC_uc001bws.3_Frame_Shift_Ins_p.A403fs|ADC_uc009vue.3_Frame_Shift_Ins_p.A403fs|ADC_uc001bwt.1_Frame_Shift_Ins_p.A308fs|ADC_uc001bwu.3_Frame_Shift_Ins_p.A308fs|ADC_uc001bwv.3_Frame_Shift_Ins_p.A308fs|ADC_uc001bwx.1_Frame_Shift_Ins_p.A380fs	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	403					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GGGGACCCAGGCCTGCCACATC	0.614													C	33583681	-	C	33583680	7	5	172	1	0	1	1	0	0	0	0	0	287	1203	42	0	1237	0	ADC	1	33583680	Frame_Shift_Ins	INS	-	TCGA-26-1439-01A-01D-1353-08	32463229	33583680	215666941	2	11986											
TCHH	7062	broad.mit.edu	37	1	152081494	152081494	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:152081494C>T	uc009wne.1	-	2	4471	c.4199G>A	c.(4198-4200)cGc>cAc	p.R1400H	TCHH_uc001ezp.2_Missense_Mutation_p.R1400H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1400	23 X 26 AA approximate tandem repeats.		R -> P (found in a renal cell carcinoma sample; somatic mutation).		keratinization	cytoskeleton	calcium ion binding	p.R1400P(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGCAGCGCAGCTGCTG	0.587													T	152081494	C	T	152081494	3	4	172	1	0	0	0	0	1	0	0	0	15697	768	27	1	1636	1	TCHH	1	152081494	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	118497814	152081494	97169127	3	11987											
PCP4L1	654790	broad.mit.edu	37	1	161253488	161253488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:161253488C>T	uc001gad.3	+	1	288	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	14										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCAACCAACCAGGCAGCTGG	0.428													T	161253488	C	T	161253488	4	4	172	1	0	0	0	0	0	1	0	0	11599	595	21	3	46	3	PCP4L1	1	161253488	Nonsense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	9171994	161253488	87997133	4	11988											
NMNAT2	23057	broad.mit.edu	37	1	183261948	183261948	+	Silent	SNP	G	G	A	rs138225647		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:183261948G>A	uc001gqc.2	-	2	451	c.219C>T	c.(217-219)gcC>gcT	p.A73A	NMNAT2_uc001gqb.2_Silent_p.A68A|NMNAT2_uc001gqd.3_5'Flank	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	73					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AATTCTGGACGGCCAGCTGAC	0.562													A	183261948	G	A	183261948	2	1	172	1	0	0	0	0	0	0	0	1	10499	1103	39	2		2	NMNAT2	1	183261948	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	22008460	183261948	65988673	5	11989											
MFSD2B	388931	broad.mit.edu	37	2	24247038	24247038	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:24247038G>A	uc002reo.2	+	12	1401	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	463					transport	integral to membrane		p.A463T(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTCATTGGCGCCGTGCCCAC	0.607													A	24247038	G	A	24247038	3	1	172	1	0	0	0	0	1	0	0	0	9531	1087	38	1	1437	1	MFSD2B	2	24247038	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		24247038	218952335	6	11990											
VAX2	25806	broad.mit.edu	37	2	71160172	71160172	+	Silent	SNP	G	G	A	rs144443163	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:71160172G>A	uc002shh.3	+	2	743	c.711G>A	c.(709-711)gcG>gcA	p.A237A	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.3_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	237					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						CGGCCTCAGCGTCCCCCCCAC	0.692													A	71160172	G	A	71160172	2	1	172	1	0	0	0	0	0	0	0	1	17132	1132	40	1		1	VAX2	2	71160172	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	46913134	71160172	172039201	7	11991											
EXOC6B	23233	broad.mit.edu	37	2	72692422	72692422	+	Missense_Mutation	SNP	T	T	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:72692422T>A	uc010fep.3	-	17	1985	c.1847A>T	c.(1846-1848)cAg>cTg	p.Q616L	EXOC6B_uc002sij.2_Missense_Mutation_p.Q616L	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	616					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTCAATCTTCTGGTTTAAGTT	0.393													A	72692422	T	A	72692422	3	1	172	1	0	0	0	0	1	0	0	0	5309	1580	55	5	608	5	EXOC6B	2	72692422	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08	1532250	72692422	170506951	8	11992											
SUSD5	26032	broad.mit.edu	37	3	33194868	33194868	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr3:33194868T>C	uc003cfo.1	-	4	1674	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	419					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTCTTGGGCTTCTTAACTTC	0.517													C	33194868	T	C	33194868	3	2	172	1	0	0	0	0	1	0	0	0	15408	1609	56	4	637	4	SUSD5	3	33194868	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08		33194868	164827562	9	11993											
DCHS2	54798	broad.mit.edu	37	4	155219800	155219800	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:155219800C>G	uc003inw.2	-	17	4301	c.4301G>C	c.(4300-4302)cGt>cCt	p.R1434P		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1434	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1434S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCAAAGCACGAGTGGTTGA	0.393													G	155219800	C	G	155219800	3	3	172	1	0	0	0	0	1	0	0	0	4288	536	19	5	4481	5	DCHS2	4	155219800	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		155219800	35934476	10	11994											
DCHS2	54798	broad.mit.edu	37	4	155242236	155242236	+	Silent	SNP	A	A	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:155242236A>G	uc003inw.2	-	13	2950	c.2950T>C	c.(2950-2952)Tta>Cta	p.L984L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	984	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTAAAATGTAACTTTCCATTA	0.328													G	155242236	A	G	155242236	2	3	172	1	0	0	0	0	0	0	0	1	4288	40	2	4		4	DCHS2	4	155242236	Silent	SNP	A	TCGA-26-1439-01A-01D-1353-08	22436	155242236	35912040	11	11995											
HEATR7B2	133558	broad.mit.edu	37	5	41058241	41058241	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:41058241C>T	uc003jmj.4	-	6	1170	c.680G>A	c.(679-681)cGt>cAt	p.R227H	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.R227H	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	227							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GGCGTATCCACGGAAGTCTTC	0.517													T	41058241	C	T	41058241	3	4	172	1	0	0	0	0	1	0	0	0	7035	536	19	1	4221	1	HEATR7B2	5	41058241	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		41058241	139857019	12	11996											
MAST4	375449	broad.mit.edu	37	5	66460510	66460510	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:66460510G>A	uc021xzk.1	+	28	5811	c.5503G>A	c.(5503-5505)Gtg>Atg	p.V1835M	MAST4_uc003jut.2_Missense_Mutation_p.V1646M|MAST4_uc003juw.3_Missense_Mutation_p.V1574M|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1838						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			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)		AAGTGGTGACGTGAGGGCCTC	0.562													A	66460510	G	A	66460510	3	1	172	1	0	0	0	0	1	0	0	0	9327	1145	40	1	5747	1	MAST4	5	66460510	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	25402269	66460510	114454750	13	11997											
TRPC7	57113	broad.mit.edu	37	5	135692416	135692416	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:135692416G>A	uc003lbn.2	-	1	882	c.660C>T	c.(658-660)aaC>aaT	p.N220N	TRPC7_uc010jef.2_Silent_p.N211N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.N220N|TRPC7_uc010jei.2_Silent_p.N220N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	220					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.N220N(3)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTGTAGGCGTTCATGCGCG	0.607													A	135692416	G	A	135692416	2	1	172	1	0	0	0	0	0	0	0	1	16581	1136	40	1		1	TRPC7	5	135692416	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	69231906	135692416	45222844	14	11998											
LRRTM2	26045	broad.mit.edu	37	5	138209080	138209081	+	Frame_Shift_Ins	INS	-	-	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:138209080_138209081insT	uc011cyz.1	-	1	1626_1627	c.1169_1170insA	c.(1168-1170)tacfs	p.Y390fs	CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Frame_Shift_Ins_p.Y256fs|CTNNA1_uc003ldl.3_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.	390						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCCACATGGTAACTTGATGA	0.431													T	138209081	-	T	138209080	7	5	172	1	0	1	1	0	0	0	0	0	9040	1256	44	0	384	0	LRRTM2	5	138209080	Frame_Shift_Ins	INS	-	TCGA-26-1439-01A-01D-1353-08	2516664	138209080	42706180	15	11999											
PCDHAC2	9752	broad.mit.edu	37	5	140229393	140229393	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:140229393C>T	uc003lhu.2	+	0	2037	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.T438M	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	452	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGCCACGGCCAGGGTG	0.657													T	140229393	C	T	140229393	3	4	172	1	0	0	0	0	1	0	0	0	11533	536	19	1		1	PCDHAC2	5	140229393	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	2020313	140229393	40685867	16	12000											
RUNX2	860	broad.mit.edu	37	6	45390685	45390685	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr6:45390685G>A	uc011dvx.2	+	2	624	c.414G>A	c.(412-414)gtG>gtA	p.V138V	RUNX2_uc011dvy.2_Silent_p.V138V|RUNX2_uc003oxt.3_Silent_p.V124V	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	138	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCCTGCCCGTGGCCTTCAAGG	0.721													A	45390685	G	A	45390685	2	1	172	1	0	0	0	0	0	0	0	1	13748	1335	47	3		3	RUNX2	6	45390685	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08		45390685	125724382	17	12001											
DBNL	28988	broad.mit.edu	37	7	44100419	44100419	+	Silent	SNP	G	G	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:44100419G>T	uc003tjp.4	+	12	1295	c.1197G>T	c.(1195-1197)acG>acT	p.T399T	DBNL_uc003tjo.4_Silent_p.T400T|DBNL_uc003tjq.4_Silent_p.T408T|DBNL_uc011kbm.2_Silent_p.T375T|DBNL_uc011kbo.2_Silent_p.T300T|DBNL_uc011kbp.2_Silent_p.T351T|DBNL_uc011kbq.2_Silent_p.T324T|DBNL_uc011kbn.2_Silent_p.T296T|DBNL_uc011kbr.2_Silent_p.T348T|DBNL_uc011kbs.2_Silent_p.T304T	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA.	399	SH3.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ACCTCATCACGGGCATCGAGG	0.587													T	44100419	G	T	44100419	2	4	172	1	0	0	0	0	0	0	0	1	4255	1103	39	5		5	DBNL	7	44100419	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08		44100419	115038244	18	12002											
POM121L12	285877	broad.mit.edu	37	7	53103950	53103950	+	Silent	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:53103950T>C	uc003tpz.3	+	0	602	c.586T>C	c.(586-588)Ttg>Ctg	p.L196L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	196								p.P195P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGACGGGCCGTTGTGGTTCGA	0.677													C	53103950	T	C	53103950	2	2	172	1	0	0	0	0	0	0	0	1	12241	1722	60	4		4	POM121L12	7	53103950	Silent	SNP	T	TCGA-26-1439-01A-01D-1353-08	9003531	53103950	106034713	19	12003											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	172	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	2129093	55233043	103905620	20	12004											
ADAM22	53616	broad.mit.edu	37	7	87760639	87760639	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:87760639C>T	uc003ujn.3	+	10	1096	c.881C>T	c.(880-882)gCg>gTg	p.A294V	ADAM22_uc003ujj.2_Missense_Mutation_p.A294V|ADAM22_uc003ujk.2_Missense_Mutation_p.A294V|ADAM22_uc003ujl.2_Missense_Mutation_p.A294V|ADAM22_uc003ujm.3_Missense_Mutation_p.A294V|ADAM22_uc003ujo.3_Missense_Mutation_p.A294V|ADAM22_uc003ujp.1_Missense_Mutation_p.A346V	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	294	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAACCTGGGCGACTGACAAC	0.358													T	87760639	C	T	87760639	3	4	172	1	0	0	0	0	1	0	0	0	244	768	27	1	923	1	ADAM22	7	87760639	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	32527596	87760639	71378024	21	12005											
EPHB4	2050	broad.mit.edu	37	7	100404060	100404060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:100404060C>T	uc003uwn.1	-	13	2957	c.2466G>A	c.(2464-2466)tgG>tgA	p.W822*	EPHB4_uc003uwm.1_Nonsense_Mutation_p.W729*|EPHB4_uc010lhj.1_Nonsense_Mutation_p.W822*	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	822	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTCATGTCCCAGTACGGCC	0.562													T	100404060	C	T	100404060	4	4	172	1	0	0	0	0	0	1	0	0	5177	624	22	3	513	3	EPHB4	7	100404060	Nonsense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	12643421	100404060	58734603	22	12006											
TAF2	6873	broad.mit.edu	37	8	120774701	120774701	+	Missense_Mutation	SNP	T	T	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:120774701T>G	uc003you.3	-	18	2782	c.2512A>C	c.(2512-2514)Aat>Cat	p.N838H		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	838					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTCCATATTCAAAAATCTG	0.333													G	120774701	T	G	120774701	3	3	172	1	0	0	0	0	1	0	0	0	15521	1783	62	5	1119	5	TAF2	8	120774701	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08		120774701	25589321	23	12007											
FLJ43860	389690	broad.mit.edu	37	8	142505515	142505515	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:142505515T>C	uc003ywi.2	-	2	412	c.331A>G	c.(331-333)Aag>Gag	p.K111E	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	111							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTCTTGATCTTCTTGATGATG	0.527													C	142505515	T	C	142505515	3	2	172	1	0	0	0	0	1	0	0	0	5930	1792	62	4	3737	4	FLJ43860	8	142505515	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08	21730814	142505515	3858507	24	12008											
PLEC	5339	broad.mit.edu	37	8	144993831	144993831	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:144993831C>T	uc003zaf.1	-	31	10739	c.10569G>A	c.(10567-10569)gcG>gcA	p.A3523A	PLEC_uc003zab.1_Silent_p.A3386A|PLEC_uc003zac.1_Silent_p.A3390A|PLEC_uc003zad.2_Silent_p.A3386A|PLEC_uc003zae.1_Silent_p.A3354A|PLEC_uc003zag.1_Silent_p.A3364A|PLEC_uc003zah.2_Silent_p.A3372A|PLEC_uc003zaj.2_Silent_p.A3413A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3523	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGCAGGAGCGCAGCCGTTG	0.692													T	144993831	C	T	144993831	2	4	172	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144993831	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08	2488316	144993831	1370191	25	12009											
FBXL6	26233	broad.mit.edu	37	8	145581939	145581939	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:145581939G>A	uc003zcb.3	-	0	245	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_Missense_Mutation_p.P57S|FBXL6_uc010mfx.3_5'UTR|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	57	F-box.				proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			tgtgcgcggggccgggcgggg	0.791													A	145581939	G	A	145581939	3	1	172	1	0	0	0	0	1	0	0	0	5723	1203	42	3	1486	3	FBXL6	8	145581939	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	588108	145581939	782083	26	12010											
DMRT3	58524	broad.mit.edu	37	9	977245	977245	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr9:977245A>G	uc003zgw.1	+	0	282	c.244A>G	c.(244-246)Agc>Ggc	p.S82G		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	82					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			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)		GGCCAACGAGAGCTTGGAGAG	0.731													G	977245	A	G	977245	3	3	172	1	0	0	0	0	1	0	0	0	4587	304	11	4	246	4	DMRT3	9	977245	Missense_Mutation	SNP	A	TCGA-26-1439-01A-01D-1353-08		977245	140236186	27	12011											
CACNA1B	774	broad.mit.edu	37	9	141014620	141014620	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr9:141014620G>A	uc004cog.3	+	43	6173	c.6028G>A	c.(6028-6030)Gtc>Atc	p.V2010I	CACNA1B_uc022bqn.1_Missense_Mutation_p.V2010I|CACNA1B_uc004coi.3_Missense_Mutation_p.V1224I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2012					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCACAGCCCGTCACAGATGC	0.672													A	141014620	G	A	141014620	3	1	172	1	0	0	0	0	1	0	0	0	2539	1145	40	1	6208	1	CACNA1B	9	141014620	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	140037375	141014620	198811	28	12012											
AKR1C4	1109	broad.mit.edu	37	10	5254979	5254979	+	Missense_Mutation	SNP	C	C	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr10:5254979C>A	uc001ihw.2	+	6	736	c.703C>A	c.(703-705)Ctt>Att	p.L235I		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	235					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CTCCCCAGTTCTTTTGGAGGA	0.527													A	5254979	C	A	5254979	3	1	172	1	0	0	0	0	1	0	0	0	472	913	32	5	729	5	AKR1C4	10	5254979	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		5254979	130279768	29	12013											
HPS6	79803	broad.mit.edu	37	10	103825336	103825336	+	Silent	SNP	T	T	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr10:103825336T>C	uc001kuj.3	+	0	213	c.105T>C	c.(103-105)cgT>cgC	p.R35R		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	35						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TCCGAGTCCGTGGCAGTCCGG	0.756									Hermansky-Pudlak syndrome				C	103825336	T	C	103825336	2	2	172	1	0	0	0	0	0	0	0	1	7343	1683	59	4		4	HPS6	10	103825336	Silent	SNP	T	TCGA-26-1439-01A-01D-1353-08	98570357	103825336	31709411	30	12014											
NPAS4	266743	broad.mit.edu	37	11	66192484	66192484	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:66192484C>T	uc001ohx.1	+	6	2299	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M	NPAS4_uc010rpc.1_Missense_Mutation_p.T498M	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	708					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAAGAGACGCCCGTGGAA	0.612													T	66192484	C	T	66192484	3	4	172	1	0	0	0	0	1	0	0	0	10565	536	19	1	2149	1	NPAS4	11	66192484	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		66192484	68814032	31	12015											
CABP4	57010	broad.mit.edu	37	11	67225127	67225127	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:67225127C>T	uc001olo.3	+	3	702	c.625C>T	c.(625-627)Cga>Tga	p.R209*	CABP4_uc001oln.3_Nonsense_Mutation_p.R104*	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	209	EF-hand 3.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCTGGGGGTGCGAGAGCTGCG	0.637													T	67225127	C	T	67225127	4	4	172	1	0	0	0	0	0	1	0	0	2533	760	27	1	639	1	CABP4	11	67225127	Nonsense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	1032643	67225127	67781389	32	12016											
SORL1	6653	broad.mit.edu	37	11	121424742	121424742	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:121424742G>A	uc001pxx.3	+	16	2492	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	788					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			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)		ACCGGGCTACGGGCAGCAGTG	0.562													A	121424742	G	A	121424742	3	1	172	1	0	0	0	0	1	0	0	0	14934	1116	39	2	2429	2	SORL1	11	121424742	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	54199615	121424742	13581774	33	12017											
TFDP1	7027	broad.mit.edu	37	13	114294537	114294537	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr13:114294537C>T	uc001vtw.3	+	11	1400	c.1188C>T	c.(1186-1188)gaC>gaT	p.D396D	TFDP1_uc010tkd.2_Silent_p.D297D|TFDP1_uc010tke.2_Silent_p.D367D|TFDP1_uc001vty.4_Silent_p.D392D	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	396	Asp/Glu-rich (acidic; NCB domain).				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			tcggggaggacgacgaggagg	0.557										TSP Lung(29;0.18)			T	114294537	C	T	114294537	2	4	172	1	0	0	0	0	0	0	0	1	15794	535	19	1		1	TFDP1	13	114294537	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08		114294537	875341	34	12018											
CDC42BPB	9578	broad.mit.edu	37	14	103523372	103523372	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr14:103523372G>A	uc001ymi.1	-	0	371	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	47					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGTCGCGGCGCAGGGCCGAG	0.721													A	103523372	G	A	103523372	3	1	172	1	0	0	0	0	1	0	0	0	3073	1087	38	1	5144	1	CDC42BPB	14	103523372	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		103523372	3826168	35	12019											
ANPEP	290	broad.mit.edu	37	15	90349552	90349552	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr15:90349552G>A	uc002bop.4	-	1	555	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	88	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CGGTCTCAGCGTCACCCGGTA	0.597													A	90349552	G	A	90349552	3	1	172	1	0	0	0	0	1	0	0	0	710	1145	40	1	2720	1	ANPEP	15	90349552	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		90349552	12181840	36	12020											
NOD2	64127	broad.mit.edu	37	16	50745689	50745689	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:50745689C>G	uc002egm.1	+	3	1972	c.1867C>G	c.(1867-1869)Cca>Gca	p.P623A	NOD2_uc021tia.1_Missense_Mutation_p.P455A|NOD2_uc010cbk.1_Missense_Mutation_p.P596A|NOD2_uc002egl.1_Missense_Mutation_p.P401A|NOD2_uc010cbl.1_Missense_Mutation_p.P401A|NOD2_uc010cbm.1_Missense_Mutation_p.P401A|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	623					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGATGTGCCACCAGCTTTGCT	0.582													G	50745689	C	G	50745689	3	3	172	1	0	0	0	0	1	0	0	0	10517	507	18	5	1881	5	NOD2	16	50745689	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		50745689	39609064	37	12021											
NUP93	9688	broad.mit.edu	37	16	56865910	56865910	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:56865910G>A	uc002eka.3	+	10	1363	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	NUP93_uc002ekb.3_Silent_p.L291L|NUP93_uc010vhi.2_Silent_p.L291L	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	414					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGGATTACCTGTGGCTGAAGG	0.502													A	56865910	G	A	56865910	2	1	172	1	0	0	0	0	0	0	0	1	10772	1364	48	3		3	NUP93	16	56865910	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	6120221	56865910	33488843	38	12022											
CDYL2	124359	broad.mit.edu	37	16	80718650	80718650	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:80718650G>A	uc002ffs.3	-	1	506	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	134						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTAAGACACCGTCTTGGTGGC	0.537													A	80718650	G	A	80718650	3	1	172	1	0	0	0	0	1	0	0	0	3186	1145	40	1	1143	1	CDYL2	16	80718650	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	23852740	80718650	9636103	39	12023											
NLRP1	22861	broad.mit.edu	37	17	5418262	5418262	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:5418262G>A	uc002gci.3	-	16	4789	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gck.3_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gcj.3_Nonsense_Mutation_p.Q1382*|NLRP1_uc002gcl.3_Nonsense_Mutation_p.Q1338*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1412	CARD.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTCTCGTACTGCTCCTGGCTC	0.572													A	5418262	G	A	5418262	4	1	172	1	0	0	0	0	0	1	0	0	10471	1328	46	3	254	3	NLRP1	17	5418262	Nonsense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		5418262	75776948	40	12024											
DNAH2	146754	broad.mit.edu	37	17	7708677	7708677	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:7708677C>T	uc002giu.1	+	59	9422	c.9408C>T	c.(9406-9408)aaC>aaT	p.N3136N	DNAH2_uc010cnm.1_Silent_p.N74N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3136	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N3136N(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCGAGGCAACGAGCCCACAT	0.498													T	7708677	C	T	7708677	2	4	172	1	0	0	0	0	0	0	0	1	4602	535	19	1		1	DNAH2	17	7708677	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08	2290415	7708677	73486533	41	12025											
PRPSAP2	5636	broad.mit.edu	37	17	18833933	18833933	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:18833933C>T	uc002gup.2	+	11	1354	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	PRPSAP2_uc002guo.2_Silent_p.I258I|PRPSAP2_uc010vyi.2_Silent_p.I304I|PRPSAP2_uc010vyj.2_Silent_p.I258I|PRPSAP2_uc010vyk.2_Silent_p.I295I|PRPSAP2_uc002guq.2_Silent_p.I131I	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	344					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCAGCATGATCCTTTCAGAGG	0.448													T	18833933	C	T	18833933	2	4	172	1	0	0	0	0	0	0	0	1	12582	845	30	3		3	PRPSAP2	17	18833933	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08	11125256	18833933	62361277	42	12026											
SLC6A4	6532	broad.mit.edu	37	17	28537542	28537542	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:28537542G>A	uc002hey.4	-	10	1984	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	480					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CAAAAGTCAGGGTGACCAGGG	0.582													A	28537542	G	A	28537542	2	1	172	1	0	0	0	0	0	0	0	1	14686	1219	43	3		3	SLC6A4	17	28537542	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	9703609	28537542	52657668	43	12027											
ABCA5	23461	broad.mit.edu	37	17	67305454	67305454	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:67305454G>A	uc002jif.2	-	2	1636	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	ABCA5_uc002jig.2_Missense_Mutation_p.R140C|ABCA5_uc002jih.2_Missense_Mutation_p.R140C|ABCA5_uc010dfe.2_Missense_Mutation_p.R140C	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	140					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GGAAAAAAACGAAGTTCATAG	0.328													A	67305454	G	A	67305454	3	1	172	1	0	0	0	0	1	0	0	0	35	1058	37	2	4654	2	ABCA5	17	67305454	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	38767912	67305454	13889756	44	12028											
RECQL5	9400	broad.mit.edu	37	17	73626864	73626864	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:73626864C>G	uc010dgl.3	-	11	1848	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L	RECQL5_uc010dgk.3_Missense_Mutation_p.V520L|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	547					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.E546D(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTACCTTCACAGTCAGCCTG	0.657								Other identified genes with known or suspected DNA repair function					G	73626864	C	G	73626864	3	3	172	1	0	0	0	0	1	0	0	0	13203	478	17	5	1372	5	RECQL5	17	73626864	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	6321410	73626864	7568346	45	12029											
GALK1	2584	broad.mit.edu	37	17	73754163	73754163	+	Missense_Mutation	SNP	C	C	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:73754163C>A	uc002jpk.3	-	7	1216	c.1153G>T	c.(1153-1155)Gat>Tat	p.D385Y		NM_000154	NP_000145	P51570	GALK1_HUMAN	Homo sapiens galactokinase 1 (GALK1), mRNA.	385					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGCTCCATCGGCTGCTTGA	0.682													A	73754163	C	A	73754163	3	1	172	1	0	0	0	0	1	0	0	0	6203	884	31	5	29	5	GALK1	17	73754163	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	127299	73754163	7441047	46	12030											
OR10H3	26532	broad.mit.edu	37	19	15852470	15852470	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:15852470C>T	uc010xoq.2	+	0	268	c.268C>T	c.(268-270)Cat>Tat	p.H90Y		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCTCTTCACCCATCGTTCCAT	0.502													T	15852470	C	T	15852470	3	4	172	1	0	0	0	0	1	0	0	0	10907	594	21	3	270	3	OR10H3	19	15852470	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		15852470	43276513	47	12031											
CPAMD8	27151	broad.mit.edu	37	19	17017835	17017835	+	Silent	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:17017835G>A	uc002nfb.3	-	29	4127	c.4095C>T	c.(4093-4095)taC>taT	p.Y1365Y		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1318						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGTCAGCGCGTAGGTAGTCA	0.662													A	17017835	G	A	17017835	2	1	172	1	0	0	0	0	0	0	0	1	3795	1140	40	1		1	CPAMD8	19	17017835	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	1165365	17017835	42111148	48	12032											
PSG3	5669	broad.mit.edu	37	19	43373123	43373123	+	Nonsense_Mutation	SNP	A	A	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:43373123A>C	uc002ovd.1	-	3	911	c.773T>G	c.(772-774)tTa>tGa	p.L258*	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Nonsense_Mutation_p.L258*|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Nonsense_Mutation_p.L165*|PSG3_uc002ova.2_Nonsense_Mutation_p.L165*|PSG3_uc002ouz.2_Nonsense_Mutation_p.L258*|PSG3_uc002ovb.3_Nonsense_Mutation_p.L258*	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	258	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTGAAGTTTAAGACATCCTT	0.488													C	43373123	A	C	43373123	4	2	172	1	0	0	0	0	0	1	0	0	12656	372	13	5		5	PSG3	19	43373123	Nonsense_Mutation	SNP	A	TCGA-26-1439-01A-01D-1353-08	26355288	43373123	15755860	49	12033											
SPTLC3	55304	broad.mit.edu	37	20	13052931	13052931	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr20:13052931G>C	uc002wod.1	+	2	620	c.331G>C	c.(331-333)Gaa>Caa	p.E111Q		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	111					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCAAGACTTTGAAAATTTTTA	0.428													C	13052931	G	C	13052931	3	2	172	1	0	0	0	0	1	0	0	0	15124	1291	45	5	341	5	SPTLC3	20	13052931	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		13052931	49972589	50	12034											
KRTAP10-11	386678	broad.mit.edu	37	21	46066487	46066487	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr21:46066487G>A	uc002zfr.4	+	0	157	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	38	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCTGCTGCGCCCCGGCCCC	0.697													A	46066487	G	A	46066487	3	1	172	1	0	0	0	0	1	0	0	0	8507	1087	38	1	114	1	KRTAP10-11	21	46066487	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		46066487	2063408	51	12035											
CECR6	27439	broad.mit.edu	37	22	17600851	17600851	+	Silent	SNP	C	C	T			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:17600851C>T	uc002zmb.2	-	0	1363	c.1167G>A	c.(1165-1167)cgG>cgA	p.R389R	CECR6_uc002zma.2_Silent_p.R34R|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	389										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCGCGCGGTGCCGCTGGGGCT	0.736													T	17600851	C	T	17600851	2	4	172	1	0	0	0	0	0	0	0	1	3208	726	26	3		3	CECR6	22	17600851	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08		17600851	33703715	52	12036											
GNB1L	54584	broad.mit.edu	37	22	19794193	19794193	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:19794193G>C	uc002zqf.1	-	5	742	c.505C>G	c.(505-507)Cgg>Ggg	p.R169G		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	169					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TGCCACAGCCGCAGGCACATG	0.607													C	19794193	G	C	19794193	3	2	172	1	0	0	0	0	1	0	0	0	6516	1086	38	5	490	5	GNB1L	22	19794193	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	2193342	19794193	31510373	53	12037											
CSF2RB	1439	broad.mit.edu	37	22	37325775	37325775	+	Missense_Mutation	SNP	G	G	A	rs149714683		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:37325775G>A	uc003aqa.4	+	5	861	c.644G>A	c.(643-645)cGc>cAc	p.R215H	CSF2RB_uc003aqc.4_Missense_Mutation_p.R215H	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	215	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTACGGACCCGCCTGGCCCCA	0.647													A	37325775	G	A	37325775	3	1	172	1	0	0	0	0	1	0	0	0	3935	1087	38	1	662	1	CSF2RB	22	37325775	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	17531582	37325775	13978791	54	12038											
SSTR3	6753	broad.mit.edu	37	22	37603101	37603101	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:37603101G>A	uc003ara.3	-	1	804	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	SSTR3_uc003arb.3_Missense_Mutation_p.R248W|SSTR3_uc021wos.1_Missense_Mutation_p.R248W	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	248					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GAGCGCCGCCGCCGCTGGCAC	0.667													A	37603101	G	A	37603101	3	1	172	1	0	0	0	0	1	0	0	0	15198	1086	38	1	518	1	SSTR3	22	37603101	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	277326	37603101	13701465	55	12039											
EFNB1	1947	broad.mit.edu	37	X	68058542	68058542	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chrX:68058542C>G	uc004dxe.2	+	1	991	c.211C>G	c.(211-213)Cgg>Ggg	p.R71G	EFNB1_uc004dxd.4_Missense_Mutation_p.R71G	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	71					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	p.R71W(2)|p.R71Q(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGAAGCAGGGCGGCCCTATGA	0.572													G	68058542	C	G	68058542	3	3	172	1	0	0	0	0	1	0	0	0	4955	759	27	5	217	5	EFNB1	23	68058542	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		68058542	87212018	56	12040											
TIE1	7075	broad.mit.edu	37	1	43778133	43778133	+	Silent	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:43778133C>T	uc001ciu.3	+	11	1965	c.1788C>T	c.(1786-1788)aaC>aaT	p.N596N	TIE1_uc010okd.2_Silent_p.N596N|TIE1_uc010oke.2_Silent_p.N551N|TIE1_uc009vwq.3_Silent_p.N552N|TIE1_uc010okf.1_Silent_p.N241N|TIE1_uc010okg.2_Silent_p.N241N	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	596	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGGGAGAACGTCTCATCCC	0.697													T	43778133	C	T	43778133	2	4	173	1	0	0	0	0	0	0	0	1	15890	535	19	1		1	TIE1	1	43778133	Silent	SNP	C	TCGA-26-1442-01A-01D-1696-08		43778133	205472488	1	12041											
DNAJB4	11080	broad.mit.edu	37	1	78478954	78478954	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:78478954G>C	uc001dij.3	+	1	590	c.431G>C	c.(430-432)aGa>aCa	p.R144T	DNAJB4_uc010orn.2_Missense_Mutation_p.R29T	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	144					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGATATCCAAGAGACAGGAAT	0.413													C	78478954	G	C	78478954	3	2	173	1	0	0	0	0	1	0	0	0	4622	942	33	5	437	5	DNAJB4	1	78478954	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	34700821	78478954	170771667	2	12042											
S100A8	6279	broad.mit.edu	37	1	153362982	153362982	+	Missense_Mutation	SNP	G	G	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:153362982G>T	uc001fbs.3	-	1	200	c.30C>A	c.(28-30)aaC>aaA	p.N10K		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	10					chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	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)			CGATGATAGAGTTCAAGGCTT	0.502													T	153362982	G	T	153362982	3	4	173	1	0	0	0	0	1	0	0	0	13786	1020	36	5	259	5	S100A8	1	153362982	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	74884028	153362982	95887639	3	12043											
CFH	10877	broad.mit.edu	37	1	196887345	196887345	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:196887345T>C	uc001gtp.3	+	9	1683	c.1546T>C	c.(1546-1548)Tgt>Cgt	p.C516R	CFH_uc021pgt.1_Missense_Mutation_p.C139R|CFH_uc009wyy.3_Missense_Mutation_p.C515R|CFH_uc001gto.3_Missense_Mutation_p.C269R	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	868	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCAGATCCATGTATAATAAC	0.259													C	196887345	T	C	196887345	3	2	173	1	0	0	0	0	1	0	0	0	3283	1464	51	4		4	CFH	1	196887345	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08	43524363	196887345	52363276	4	12044											
CACNA1S	779	broad.mit.edu	37	1	201042718	201042718	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:201042718C>G	uc001gvv.3	-	14	2343	c.2116G>C	c.(2116-2118)Gag>Cag	p.E706Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	706					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGTTTCTGCTCCAGCTTCTTG	0.542													G	201042718	C	G	201042718	3	3	173	1	0	0	0	0	1	0	0	0	2547	864	30	5	3625	5	CACNA1S	1	201042718	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	4155373	201042718	48207903	5	12045											
USH2A	7399	broad.mit.edu	37	1	216348801	216348801	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:216348801G>C	uc001hku.1	-	20	4807	c.4420C>G	c.(4420-4422)Ctg>Gtg	p.L1474V	USH2A_uc001hkv.3_Missense_Mutation_p.L1474V	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1474					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		CCTTTAACCAGAGGTGGCCTC	0.403										HNSCC(13;0.011)			C	216348801	G	C	216348801	3	2	173	1	0	0	0	0	1	0	0	0	17033	933	33	5	11410	5	USH2A	1	216348801	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	15306083	216348801	32901820	6	12046											
TTC27	55622	broad.mit.edu	37	2	33036261	33036261	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:33036261G>C	uc002rom.3	+	16	2442	c.2169G>C	c.(2167-2169)caG>caC	p.Q723H	TTC27_uc010ymx.2_Missense_Mutation_p.Q673H	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	723							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GAAATGGGCAGAGTGAAAAGC	0.428													C	33036261	G	C	33036261	3	2	173	1	0	0	0	0	1	0	0	0	16692	933	33	5	2235	5	TTC27	2	33036261	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		33036261	210163112	7	12047											
INO80B	83444	broad.mit.edu	37	2	74684891	74684891	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:74684891G>A	uc010yrs.2	+	3	1226	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	INO80B_uc002slg.3_Missense_Mutation_p.R324H|INO80B_uc010yrr.2_Missense_Mutation_p.R296H|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	324					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCTTGCTCCCGCACAGGCCAG	0.697													A	74684891	G	A	74684891	3	1	173	1	0	0	0	0	1	0	0	0	7747	1087	38	1	989	1	INO80B	2	74684891	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	41648630	74684891	168514482	8	12048											
KIF5C	3800	broad.mit.edu	37	2	149857246	149857246	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:149857246G>C	uc010zbu.2	+	20	2718	c.2323G>C	c.(2323-2325)Gat>Cat	p.D775H	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Missense_Mutation_p.D57H	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	775					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATTGCTCAACGATAAAAGGGA	0.423													C	149857246	G	C	149857246	3	2	173	1	0	0	0	0	1	0	0	0	8307	1058	37	5	2327	5	KIF5C	2	149857246	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	75172355	149857246	93342127	9	12049											
COQ10B	80219	broad.mit.edu	37	2	198318368	198318368	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:198318368G>A	uc002uuh.1	+	0	138	c.84G>A	c.(82-84)caG>caA	p.Q28Q	COQ10B_uc010fsl.1_5'Flank	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Homo sapiens coenzyme Q10 homolog B (S. cerevisiae) (COQ10B), nuclear gene encoding mitochondrial protein, mRNA.	28						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCGGGGCGCAGGCGCCCGTGC	0.627													A	198318368	G	A	198318368	2	1	173	1	0	0	0	0	0	0	0	1	3744	991	35	3		3	COQ10B	2	198318368	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08	48461122	198318368	44881005	10	12050											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	173	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	10794744	209113112	34086261	11	12051											
SMARCC1	6599	broad.mit.edu	37	3	47755965	47755965	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:47755965G>A	uc003crq.2	-	7	850	c.732C>T	c.(730-732)gtC>gtT	p.V244V	SMARCC1_uc011bbd.1_Silent_p.V135V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	244					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.W243L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATTACTATGGACCCAAGTAT	0.274													A	47755965	G	A	47755965	2	1	173	1	0	0	0	0	0	0	0	1	14775	1161	41	3		3	SMARCC1	3	47755965	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08		47755965	150266465	12	12052											
ITIH1	3697	broad.mit.edu	37	3	52822082	52822082	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:52822082G>A	uc003dfs.3	+	17	2035	c.2005_splice	c.e17+1	p.V669_splice	ITIH1_uc010hmn.2_Splice_Site|ITIH1_uc021wzf.1_Splice_Site_p.V527_splice|ITIH1_uc021wzg.1_Splice_Site_p.V381_splice|ITIH1_uc021wzh.1_Splice_Site_p.V381_splice|ITIH1_uc003dft.3_Splice_Site_p.V270_splice	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	669	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGTGACCGGCGGTGAGTCCTT	0.607													A	52822082	G	A	52822082	3	1	173	1	0	0	0	0	1	0	0	0	7903	1130	39	2	2071	2	ITIH1	3	52822082	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	5066117	52822082	145200348	13	12053											
DZIP1L	199221	broad.mit.edu	37	3	137799416	137799416	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:137799416T>C	uc003erq.3	-	9	1644	c.1281A>G	c.(1279-1281)ccA>ccG	p.P427P	DZIP1L_uc003err.1_Silent_p.P427P	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	427						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CACCTTCCTCTGGAGAGTCCT	0.522													C	137799416	T	C	137799416	2	2	173	1	0	0	0	0	0	0	0	1	4864	1567	55	4		4	DZIP1L	3	137799416	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	84977334	137799416	60223014	14	12054											
ZBTB38	253461	broad.mit.edu	37	3	141162963	141162963	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:141162963A>G	uc010hup.3	+	1	1783	c.1736A>G	c.(1735-1737)tAt>tGt	p.Y579C	ZBTB38_uc003etw.3_Missense_Mutation_p.Y578C|ZBTB38_uc010hun.3_Missense_Mutation_p.Y575C|ZBTB38_uc010huo.3_Missense_Mutation_p.Y578C|ZBTB38_uc003ety.3_Missense_Mutation_p.Y578C|ZBTB38_uc021xes.1_Missense_Mutation_p.Y578C	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	578					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAGCCCCTTATAAGAGCTAC	0.408													G	141162963	A	G	141162963	3	3	173	1	0	0	0	0	1	0	0	0	17536	449	16	4	1735	4	ZBTB38	3	141162963	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	3363547	141162963	56859467	15	12055											
TRIML1	339976	broad.mit.edu	37	4	189068016	189068016	+	Silent	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr4:189068016C>T	uc003izm.1	+	5	1012	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TRIML1_uc003izn.1_Silent_p.L23L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	299	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.L299L(4)		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)		ATGCCTATCTCGTGTTGTCGG	0.512													T	189068016	C	T	189068016	2	4	173	1	0	0	0	0	0	0	0	1	16547	871	31	2		2	TRIML1	4	189068016	Silent	SNP	C	TCGA-26-1442-01A-01D-1696-08		189068016	2086260	16	12056											
CNOT8	9337	broad.mit.edu	37	5	154250226	154250226	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr5:154250226A>G	uc003lvu.3	+	4	796	c.317A>G	c.(316-318)gAc>gGc	p.D106G	CNOT8_uc011ddf.2_5'UTR|CNOT8_uc011ddg.2_5'UTR|CNOT8_uc011ddh.2_Intron|CNOT8_uc003lvv.3_Missense_Mutation_p.D106G|CNOT8_uc010jig.3_5'UTR|CNOT8_uc010jif.3_5'UTR|CNOT8_uc003lvw.3_Missense_Mutation_p.D106G|CNOT8_uc011ddi.2_5'UTR|CNOT8_uc011ddj.2_Intron	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 8 (CNOT8), mRNA.	106					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTAGAGAGGACATGTACTCC	0.393													G	154250226	A	G	154250226	3	3	173	1	0	0	0	0	1	0	0	0	3625	275	10	4	327	4	CNOT8	5	154250226	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08		154250226	26665034	17	12057											
HIST1H1T	3010	broad.mit.edu	37	6	26107726	26107726	+	Missense_Mutation	SNP	T	T	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr6:26107726T>A	uc003ngj.3	-	0	639	c.596A>T	c.(595-597)aAt>aTt	p.N199I		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	199					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CTTTCTAACATTAACTTCATG	0.448													A	26107726	T	A	26107726	3	1	173	1	0	0	0	0	1	0	0	0	7127	1493	52	5	31	5	HIST1H1T	6	26107726	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08		26107726	145007341	18	12058											
NCOA7	135112	broad.mit.edu	37	6	126210501	126210501	+	Missense_Mutation	SNP	A	A	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr6:126210501A>T	uc003qai.3	+	8	1670	c.1301A>T	c.(1300-1302)gAc>gTc	p.D434V	NCOA7_uc010kes.3_Missense_Mutation_p.D434V|NCOA7_uc003qae.4_Missense_Mutation_p.D434V|NCOA7_uc010ket.3_Missense_Mutation_p.D319V|NCOA7_uc003qah.3_Missense_Mutation_p.D423V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	434					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CACAAAAAAGACACCTTGAAG	0.423													T	126210501	A	T	126210501	3	4	173	1	0	0	0	0	1	0	0	0	10234	275	10	5	1331	5	NCOA7	6	126210501	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	100102775	126210501	44904566	19	12059											
TNRC18	84629	broad.mit.edu	37	7	5354614	5354614	+	Splice_Site	SNP	C	C	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr7:5354614C>A	uc003soi.4	-	26	7376	c.7027_splice	c.e26+1	p.D2343_splice		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2343							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCCAACCTACCACCCTTGGC	0.672													A	5354614	C	A	5354614	5	1	173	1	0	0	0	0	0	0	1	0	16336	521	18	5	1898	5	TNRC18	7	5354614	Splice_Site	SNP	C	TCGA-26-1442-01A-01D-1696-08		5354614	153784049	20	12060											
OGDH	4967	broad.mit.edu	37	7	44747273	44747273	+	Silent	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr7:44747273A>G	uc003tln.3	+	21	3048	c.2889A>G	c.(2887-2889)caA>caG	p.Q963Q	OGDH_uc011kbx.2_Silent_p.Q959Q|OGDH_uc011kby.2_Silent_p.Q813Q|OGDH_uc003tlp.3_Silent_p.Q974Q|OGDH_uc011kbz.2_Silent_p.Q758Q	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	963					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACAAGAACCAAGGCTACTATG	0.592													G	44747273	A	G	44747273	2	3	173	1	0	0	0	0	0	0	0	1	10839	69	3	4		4	OGDH	7	44747273	Silent	SNP	A	TCGA-26-1442-01A-01D-1696-08	39392659	44747273	114391390	21	12061											
ERLIN2	11160	broad.mit.edu	37	8	37611537	37611537	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr8:37611537T>C	uc003xke.4	+	11	1039	c.924T>C	c.(922-924)tcT>tcC	p.S308S		NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	308	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCATGGACTCTGCGGGCAGTG	0.463													C	37611537	T	C	37611537	2	2	173	1	0	0	0	0	0	0	0	1	5233	1567	55	4		4	ERLIN2	8	37611537	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08		37611537	108752485	22	12062											
LAPTM4B	55353	broad.mit.edu	37	8	98863639	98863639	+	Silent	SNP	G	G	A	rs147233429		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr8:98863639G>A	uc003yia.3	+	6	1047	c.891G>A	c.(889-891)ccG>ccA	p.P297P	LAPTM4B_uc010mbg.3_Silent_p.P129P	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.	350					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			TGCTACCCCCGTATGATGATG	0.527													A	98863639	G	A	98863639	2	1	173	1	0	0	0	0	0	0	0	1	8625	1132	40	1		1	LAPTM4B	8	98863639	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08	61252102	98863639	47500383	23	12063											
AK1	203	broad.mit.edu	37	9	130630690	130630691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr9:130630690_130630691insT	uc004bsm.4	-	5	578_579	c.425_426insA	c.(424-426)aatfs	p.N142fs		NM_000476	NP_000467	P00568	KAD1_HUMAN	Homo sapiens adenylate kinase 1 (AK1), mRNA.	142					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding			endometrium(1)|prostate(1)	2						TGGTCTCCTCATTGTCGTCCAC	0.574													T	130630691	-	T	130630690	7	5	173	1	0	1	1	0	0	0	0	0	439	214	8	0	166	0	AK1	9	130630690	Frame_Shift_Ins	INS	-	TCGA-26-1442-01A-01D-1696-08		130630690	10582741	24	12064											
DLG5	9231	broad.mit.edu	37	10	79581222	79581222	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr10:79581222G>A	uc001jzk.3	-	14	3090	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.A611V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1007	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGAGGCCCCGCCCTCTTGGA	0.592													A	79581222	G	A	79581222	3	1	173	1	0	0	0	0	1	0	0	0	4558	1087	38	1	2811	1	DLG5	10	79581222	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		79581222	55953525	25	12065											
CDHR1	92211	broad.mit.edu	37	10	85972090	85972090	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr10:85972090A>G	uc001kcv.3	+	14	1814	c.1709A>G	c.(1708-1710)aAt>aGt	p.N570S	CDHR1_uc001kcw.3_Missense_Mutation_p.N570S|CDHR1_uc009xst.3_Missense_Mutation_p.N274S|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	570	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGATGTCAATGACCACCCC	0.522													G	85972090	A	G	85972090	3	3	173	1	0	0	0	0	1	0	0	0	3118	101	4	4	1767	4	CDHR1	10	85972090	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	6390868	85972090	49562657	26	12066											
TRPM5	29850	broad.mit.edu	37	11	2434731	2434731	+	Missense_Mutation	SNP	C	C	T	rs149949624	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:2434731C>T	uc010qxl.2	-	12	1987	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	TRPM5_uc001lwm.4_Missense_Mutation_p.V660I|TRPM5_uc009ydn.3_Missense_Mutation_p.V662I	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	660						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTGGTATAGACGAGGGCGGGG	0.677													T	2434731	C	T	2434731	3	4	173	1	0	0	0	0	1	0	0	0	16586	536	19	1	1567	1	TRPM5	11	2434731	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08		2434731	132571785	27	12067											
OR52B6	340980	broad.mit.edu	37	11	5602310	5602310	+	Silent	SNP	C	C	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:5602310C>A	uc010qzi.2	+	0	204	c.204C>A	c.(202-204)gtC>gtA	p.V68V	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATTTGTGTCATCCTCTCCC	0.522													A	5602310	C	A	5602310	2	1	173	1	0	0	0	0	0	0	0	1	11113	813	29	5		5	OR52B6	11	5602310	Silent	SNP	C	TCGA-26-1442-01A-01D-1696-08	3167579	5602310	129404206	28	12068											
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5656037	5656037	+	Missense_Mutation	SNP	G	G	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:5656037G>T	uc001mbh.3	+	3	853	c.696G>T	c.(694-696)gaG>gaT	p.E232D	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.E586D|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.E232D|TRIM6-TRIM34_uc001mbj.3_Missense_Mutation_p.E232D	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	586						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TGGTGAGAGAGCTCATCTCAG	0.488													T	5656037	G	T	5656037	3	4	173	1	0	0	0	0	1	0	0	0	16531	962	34	5	1796	5	TRIM6-TRIM34	11	5656037	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	53727	5656037	129350479	29	12069											
MRVI1	10335	broad.mit.edu	37	11	10673684	10673684	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:10673684G>A	uc010rcc.1	-	1	499	c.113C>T	c.(112-114)gCg>gTg	p.A38V	MRVI1_uc010rcb.1_Missense_Mutation_p.A29V|MRVI1_uc001miw.2_Missense_Mutation_p.A29V|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.A38V|MRVI1_uc009ygd.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	29					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGGAACCTCCGCTGCGTCAGC	0.647													A	10673684	G	A	10673684	3	1	173	1	0	0	0	0	1	0	0	0	9853	1087	38	1	2705	1	MRVI1	11	10673684	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	5017647	10673684	124332832	30	12070											
MS4A8B	83661	broad.mit.edu	37	11	60470903	60470903	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:60470903C>T	uc001npv.3	+	2	475	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MS4A8B_uc009yne.1_Missense_Mutation_p.A91V	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	91						integral to membrane	receptor activity	p.A91A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCCATCATGGCGACGGTTCTC	0.552													T	60470903	C	T	60470903	3	4	173	1	0	0	0	0	1	0	0	0	9867	768	27	1	278	1	MS4A8B	11	60470903	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	49797219	60470903	74535613	31	12071											
HRASLS5	117245	broad.mit.edu	37	11	63257740	63257740	+	Missense_Mutation	SNP	C	C	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:63257740C>G	uc001nwy.2	-	1	418	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	HRASLS5_uc001nwz.2_Missense_Mutation_p.E72Q|HRASLS5_uc010rmq.1_Missense_Mutation_p.E82Q|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	82								p.L81L(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGCCCTGTTCTAATGTGCCC	0.498													G	63257740	C	G	63257740	3	3	173	1	0	0	0	0	1	0	0	0	7351	922	32	5	615	5	HRASLS5	11	63257740	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	2786837	63257740	71748776	32	12072											
PFKM	5213	broad.mit.edu	37	12	48529142	48529142	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:48529142G>A	uc001rrb.2	+	11	1399	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	PFKM_uc001rra.2_5'UTR|PFKM_uc001rrc.3_Silent_p.T304T|PFKM_uc001rrd.3_5'UTR|PFKM_uc001rre.2_Silent_p.T304T|PFKM_uc021qxj.1_Silent_p.T304T|PFKM_uc001rrg.2_Intron	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	304					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGGTGGGACGCCATCAGCCT	0.572													A	48529142	G	A	48529142	2	1	173	1	0	0	0	0	0	0	0	1	11765	1074	38	1		1	PFKM	12	48529142	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08		48529142	85322753	33	12073											
ESPL1	9700	broad.mit.edu	37	12	53663316	53663316	+	Missense_Mutation	SNP	G	G	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:53663316G>T	uc001sck.2	+	2	681	c.590G>T	c.(589-591)cGa>cTa	p.R197L	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	197					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACAGCCTGTCGAGCGGTAGCT	0.517													T	53663316	G	T	53663316	3	4	173	1	0	0	0	0	1	0	0	0	5253	1058	37	5	596	5	ESPL1	12	53663316	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	5134174	53663316	80188579	34	12074											
SP1	6667	broad.mit.edu	37	12	53804896	53804896	+	Missense_Mutation	SNP	A	A	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:53804896A>T	uc001scw.3	+	5	2327	c.2230A>T	c.(2230-2232)Att>Ttt	p.I744F	SP1_uc021qyf.1_Missense_Mutation_p.I696F|SP1_uc010sog.2_Missense_Mutation_p.I737F	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	744	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TTCAGCCCTTATTACCACCAA	0.572													T	53804896	A	T	53804896	3	4	173	1	0	0	0	0	1	0	0	0	14959	449	16	5	2252	5	SP1	12	53804896	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	141580	53804896	80046999	35	12075											
ITGA7	3679	broad.mit.edu	37	12	56087909	56087909	+	Splice_Site	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:56087909T>C	uc001shh.3	-	19	2665	c.2445_splice	c.e19-1	p.G815_splice	ITGA7_uc001shg.3_Splice_Site_p.G811_splice|ITGA7_uc010sps.2_Splice_Site_p.G718_splice|ITGA7_uc009znw.3_Splice_Site_p.G58_splice|ITGA7_uc009znx.3_Splice_Site_p.G692_splice	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	855					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATGGCCATTCTGGCGTGGAGA	0.592													C	56087909	T	C	56087909	5	2	173	1	0	0	0	0	0	0	1	0	7881	1594	55	4	1010	4	ITGA7	12	56087909	Splice_Site	SNP	T	TCGA-26-1442-01A-01D-1696-08	2283013	56087909	77763986	36	12076											
MTERFD3	80298	broad.mit.edu	37	12	107372183	107372183	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:107372183C>T	uc001tme.1	-	1	2129	c.310G>A	c.(310-312)Gca>Aca	p.A104T	MTERFD3_uc001tmf.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmg.1_Missense_Mutation_p.A104T|MTERFD3_uc021rdh.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmh.1_Missense_Mutation_p.A104T	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CAGACAATTGCTTCCGGGCAG	0.423													T	107372183	C	T	107372183	3	4	173	1	0	0	0	0	1	0	0	0	9921	797	28	3	851	3	MTERFD3	12	107372183	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	51284274	107372183	26479712	37	12077											
EIF2B1	1967	broad.mit.edu	37	12	124116941	124116941	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:124116941T>C	uc001ufm.3	-	1	285	c.66A>G	c.(64-66)tcA>tcG	p.S22S	GTF2H3_uc001ufo.1_5'Flank|GTF2H3_uc010tau.1_5'Flank|EIF2B1_uc010tat.2_Silent_p.S22S	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	22					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CAGCCACTGCTGAGGCCATGT	0.398													C	124116941	T	C	124116941	2	2	173	1	0	0	0	0	0	0	0	1	5000	1567	55	4		4	EIF2B1	12	124116941	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	16744758	124116941	9734954	38	12078											
FZD10	11211	broad.mit.edu	37	12	130648643	130648643	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:130648643G>A	uc001uii.3	+	0	1640	c.1156G>A	c.(1156-1158)Gtg>Atg	p.V386M	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	386					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGTCTGCTACGTGGGCAGCAT	0.657													A	130648643	G	A	130648643	3	1	173	1	0	0	0	0	1	0	0	0	6129	1145	40	1	1158	1	FZD10	12	130648643	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	6531702	130648643	3203252	39	12079											
SLC15A1	6564	broad.mit.edu	37	13	99378425	99378425	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr13:99378425G>A	uc001vno.3	-	3	274	c.197C>T	c.(196-198)aCg>aTg	p.T66M	SLC15A1_uc001vnp.1_Missense_Mutation_p.T34M	NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	66					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GAGAATTGGCGTCAGGTAGCA	0.463													A	99378425	G	A	99378425	3	1	173	1	0	0	0	0	1	0	0	0	14398	1145	40	1	2009	1	SLC15A1	13	99378425	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		99378425	15791453	40	12080											
CHD8	57680	broad.mit.edu	37	14	21870120	21870120	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:21870120G>C	uc001war.2	-	18	4123	c.4058C>G	c.(4057-4059)gCt>gGt	p.A1353G	CHD8_uc001was.2_Missense_Mutation_p.A1074G|CHD8_uc001wav.1_Missense_Mutation_p.A516G	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1353					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACATGCCTTAGCAAAGGTGGA	0.428													C	21870120	G	C	21870120	3	2	173	1	0	0	0	0	1	0	0	0	3331	971	34	5	3763	5	CHD8	14	21870120	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		21870120	85479420	41	12081											
NYNRIN	57523	broad.mit.edu	37	14	24878580	24878580	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:24878580G>A	uc001wpf.4	+	3	1898	c.1580G>A	c.(1579-1581)gGg>gAg	p.G527E		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	527					DNA integration	integral to membrane	DNA binding			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						GTGGCTCAAGGGGGGCTGACA	0.567													A	24878580	G	A	24878580	3	1	173	1	0	0	0	0	1	0	0	0	10796	1232	43	3	1590	3	NYNRIN	14	24878580	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	3008460	24878580	82470960	42	12082											
FRMD6	122786	broad.mit.edu	37	14	52194629	52194629	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:52194629G>A	uc001wzd.3	+	13	2036	c.1751G>A	c.(1750-1752)tGc>tAc	p.C584Y	FRMD6_uc001wzb.3_Missense_Mutation_p.C576Y|FRMD6_uc001wzc.3_Missense_Mutation_p.C576Y|FRMD6_uc001wze.3_Missense_Mutation_p.C507Y|FRMD6_uc001wzf.3_Missense_Mutation_p.C277Y|FRMD6_uc001wzg.3_Missense_Mutation_p.C226Y	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	584						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGCCTCTATTGCAACAGTTGC	0.468													A	52194629	G	A	52194629	3	1	173	1	0	0	0	0	1	0	0	0	6054	1319	46	3	1777	3	FRMD6	14	52194629	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	27316049	52194629	55154911	43	12083											
SYNE2	23224	broad.mit.edu	37	14	64540771	64540771	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:64540771T>C	uc001xgl.3	+	52	11013	c.10783T>C	c.(10783-10785)Ttg>Ctg	p.L3595L	SYNE2_uc001xgm.3_Silent_p.L3595L|SYNE2_uc021ruh.1_Silent_p.L3628L|SYNE2_uc010apy.3_5'Flank|SYNE2_uc010apw.1_Silent_p.L301L|SYNE2_uc010apx.1_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3595					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			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)		GATAATTGCTTTGAAGAATTT	0.358													C	64540771	T	C	64540771	2	2	173	1	0	0	0	0	0	0	0	1	15443	1838	64	4		4	SYNE2	14	64540771	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	12346142	64540771	42808769	44	12084											
TUBGCP5	114791	broad.mit.edu	37	15	22835924	22835924	+	Missense_Mutation	SNP	G	G	T	rs143778036		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr15:22835924G>T	uc001yuq.2	+	1	285	c.155G>T	c.(154-156)cGt>cTt	p.R52L	TUBGCP5_uc001yur.4_Missense_Mutation_p.R52L	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	52					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGATTTCATCGTTTCTTGGAT	0.368													T	22835924	G	T	22835924	3	4	173	1	0	0	0	0	1	0	0	0	16766	1145	40	5	161	5	TUBGCP5	15	22835924	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		22835924	79695468	45	12085											
KCTD19	146212	broad.mit.edu	37	16	67331487	67331487	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr16:67331487T>C	uc002esu.2	-	6	1117	c.1066A>G	c.(1066-1068)Agg>Ggg	p.R356G	KCTD19_uc002est.2_Missense_Mutation_p.R128G|KCTD19_uc010vjj.1_Missense_Mutation_p.R99G	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	356						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGATGTCCCTTTTGTCTAGG	0.517													C	67331487	T	C	67331487	3	2	173	1	0	0	0	0	1	0	0	0	8106	1608	56	4	1754	4	KCTD19	16	67331487	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08		67331487	23023266	46	12086											
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	173	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		7577121	73618089	47	12087											
DNAH9	1770	broad.mit.edu	37	17	11696846	11696846	+	Silent	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:11696846T>C	uc002gne.3	+	41	8156	c.8088T>C	c.(8086-8088)tgT>tgC	p.C2696C	DNAH9_uc010coo.3_Silent_p.C1990C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2696					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		CAGTGGAATGTGTGAAATCCA	0.388													C	11696846	T	C	11696846	2	2	173	1	0	0	0	0	0	0	0	1	4608	1702	59	4		4	DNAH9	17	11696846	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	4119725	11696846	69498364	48	12088											
BPTF	2186	broad.mit.edu	37	17	65862640	65862640	+	Silent	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:65862640A>G	uc002jgf.3	+	2	1558	c.1497A>G	c.(1495-1497)caA>caG	p.Q499Q	BPTF_uc002jge.3_Silent_p.Q499Q|BPTF_uc010wqm.1_Silent_p.Q499Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	499					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAAGGTCCAACTTGCAGAAT	0.343													G	65862640	A	G	65862640	2	3	173	1	0	0	0	0	0	0	0	1	1495	40	2	4		4	BPTF	17	65862640	Silent	SNP	A	TCGA-26-1442-01A-01D-1696-08	54165794	65862640	15332570	49	12089											
MIB1	57534	broad.mit.edu	37	18	19321653	19321653	+	Missense_Mutation	SNP	G	G	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr18:19321653G>C	uc002ktq.3	+	0	109	c.109G>C	c.(109-111)Ggc>Cgc	p.G37R	MIB1_uc002ktp.3_Intron	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	37	MIB/HERC2 1.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGGCCATGTGGGCACCGTCCG	0.677													C	19321653	G	C	19321653	3	2	173	1	0	0	0	0	1	0	0	0	9566	1232	43	5	111	5	MIB1	18	19321653	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		19321653	58755595	50	12090											
SOCS6	9306	broad.mit.edu	37	18	67992496	67992496	+	Missense_Mutation	SNP	A	A	G			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr18:67992496A>G	uc002lkr.1	+	1	908	c.592A>G	c.(592-594)Aat>Gat	p.N198D	SOCS6_uc010dqq.2_Missense_Mutation_p.N198D|SOCS6_uc021ulj.1_Missense_Mutation_p.N198D	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	198					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GGCTTCTCATAATGGAGACCT	0.512													G	67992496	A	G	67992496	3	3	173	1	0	0	0	0	1	0	0	0	14918	362	13	4	594	4	SOCS6	18	67992496	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	48670843	67992496	10084752	51	12091											
LMNB2	84823	broad.mit.edu	37	19	2444529	2444529	+	Missense_Mutation	SNP	T	T	C			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:2444529T>C	uc002lvy.3	-	1	301	c.214A>G	c.(214-216)Atc>Gtc	p.I72V		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	72	Linker 1.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		AGCGCCTTGATGCCACTCACC	0.642													C	2444529	T	C	2444529	3	2	173	1	0	0	0	0	1	0	0	0	8850	1464	51	4	1632	4	LMNB2	19	2444529	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08		2444529	56684454	52	12092											
PGLS	25796	broad.mit.edu	37	19	17626983	17626983	+	Missense_Mutation	SNP	C	C	T	rs143569199		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:17626983C>T	uc002ngw.3	+	2	339	c.289_splice	c.e2-1	p.T97_splice		NM_012088	NP_036220	O95336	6PGL_HUMAN	Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA.	97						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						TGGCTGCAGACGCATCTTCTC	0.537													T	17626983	C	T	17626983	3	4	173	1	0	0	0	0	1	0	0	0	11792	550	19	1	296	1	PGLS	19	17626983	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	15182454	17626983	41502000	53	12093											
ZNF233	353355	broad.mit.edu	37	19	44778066	44778066	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:44778066G>A	uc021uvi.1	+	4	1359	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.R233K|ZNF233_uc002oyz.2_Missense_Mutation_p.R418K	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCCCATCAGAGAGGTCACTCT	0.418													A	44778066	G	A	44778066	3	1	173	1	0	0	0	0	1	0	0	0	17783	942	33	3	1267	3	ZNF233	19	44778066	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	27151083	44778066	14350917	54	12094											
PEG3	5178	broad.mit.edu	37	19	57328400	57328400	+	Silent	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:57328400G>A	uc002qnu.2	-	6	1761	c.1410C>T	c.(1408-1410)caC>caT	p.H470H	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.H441H|PEG3_uc002qnv.2_Silent_p.H470H|PEG3_uc002qnw.2_Silent_p.H346H|PEG3_uc002qnx.2_Silent_p.H344H|PEG3_uc010etr.2_Silent_p.H470H	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	470					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		GCATGATCTGGTGCTCAACAA	0.458													A	57328400	G	A	57328400	2	1	173	1	0	0	0	0	0	0	0	1	11720	1252	44	3		3	PEG3	19	57328400	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08	12550334	57328400	1800583	55	12095											
ACOT8	10005	broad.mit.edu	37	20	44477248	44477248	+	Missense_Mutation	SNP	C	C	T			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr20:44477248C>T	uc002xqa.2	-	2	423	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ACOT8_uc010zxe.2_Missense_Mutation_p.R110H|ACOT8_uc002xqc.2_Missense_Mutation_p.R57H|ACOT8_uc010zxf.2_Intron	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	110					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CTTCACAGAGCGCACCGAGAA	0.627													T	44477248	C	T	44477248	3	4	173	1	0	0	0	0	1	0	0	0	156	768	27	1	646	1	ACOT8	20	44477248	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08		44477248	18548272	56	12096											
KDM5C	8242	broad.mit.edu	37	X	53223866	53223866	+	Missense_Mutation	SNP	G	G	A			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chrX:53223866G>A	uc004drz.3	-	22	4026	c.3493C>T	c.(3493-3495)Cgt>Tgt	p.R1165C	KDM5C_uc022bxe.1_Missense_Mutation_p.R1098C|KDM5C_uc004dsa.3_Missense_Mutation_p.R1164C|AY927613_uc004dsb.1_Non-coding_Transcript	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1165					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTGGTGCGACGCAGCTGCAGG	0.612			"N, F, S"		clear cell renal carcinoma								A	53223866	G	A	53223866	3	1	173	1	0	0	0	0	1	0	0	0	8135	1087	38	1	1303	1	KDM5C	23	53223866	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		53223866	102046694	57	12097											
DNAJC16	23341	broad.mit.edu	37	1	15873341	15873341	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:15873341C>T	uc001aws.3	+	5	959	c.839C>T	c.(838-840)aCg>aTg	p.T280M	DNAJC16_uc001awr.1_Missense_Mutation_p.T280M|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	280					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	p.T280T(1)		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)		TTTGACCAAACGCCCATTGTG	0.328													T	15873341	C	T	15873341	3	4	174	1	0	0	0	0	1	0	0	0	4635	536	19	1	857	1	DNAJC16	1	15873341	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		15873341	233377280	1	12098											
MACF1	23499	broad.mit.edu	37	1	39907987	39907987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:39907987C>T	uc021olw.1	+	40	14272	c.14272C>T	c.(14272-14274)Cga>Tga	p.R4758*	MACF1_uc021ols.1_Nonsense_Mutation_p.R4253*|MACF1_uc021olt.1_Nonsense_Mutation_p.R4256*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6323					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			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)			AATTGCCCACCGACAGGTAAG	0.443													T	39907987	C	T	39907987	4	4	174	1	0	0	0	0	0	1	0	0	9144	644	23	2	19203	2	MACF1	1	39907987	Nonsense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	24034646	39907987	209342634	2	12099											
KCNQ4	9132	broad.mit.edu	37	1	41284177	41284177	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:41284177A>G	uc001cgh.2	+	4	615	c.533_splice	c.e4-1	p.D178_splice	KCNQ4_uc001cgi.2_Splice_Site_p.D178_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	178					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GCCCCTGCAGACTTCATCGTG	0.701													G	41284177	A	G	41284177	3	3	174	1	0	0	0	0	1	0	0	0	8085	289	10	4	547	4	KCNQ4	1	41284177	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	1376190	41284177	207966444	3	12100											
MYSM1	114803	broad.mit.edu	37	1	59141202	59141202	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:59141202C>T	uc009wab.2	-	9	1464	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	481					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TCTTTTCTGTCTCTGATTCGT	0.408													T	59141202	C	T	59141202	3	4	174	1	0	0	0	0	1	0	0	0	10101	913	32	3	1089	3	MYSM1	1	59141202	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	17857025	59141202	190109419	4	12101											
GJA5	2702	broad.mit.edu	37	1	147230552	147230552	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:147230552G>A	uc021ovl.1	-	0	795	c.795C>T	c.(793-795)ccC>ccT	p.P265P	GJA5_uc001eps.1_Silent_p.P265P|GJA5_uc001ept.1_Silent_p.P265P	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	265					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.P265P(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GATTAAAGTCGGGGGGTGGTG	0.532													A	147230552	G	A	147230552	2	1	174	1	0	0	0	0	0	0	0	1	6404	1103	39	2		2	GJA5	1	147230552	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	88089350	147230552	102020069	5	12102											
PRPF3	9129	broad.mit.edu	37	1	150318611	150318611	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:150318611G>A	uc001eum.4	+	13	1921	c.1759_splice	c.e13+1	p.G587_splice	PRPF3_uc009wlp.2_Splice_Site|PRPF3_uc010pca.2_Splice_Site_p.G546_splice|PRPF3_uc010pcb.2_Splice_Site_p.G538_splice|PRPF3_uc009wlq.1_Splice_Site	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	587					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TAGTGGAAGGGGGTGAGTCTG	0.488													A	150318611	G	A	150318611	2	1	174	1	0	0	0	0	0	0	0	1	12565	1246	43	3		3	PRPF3	1	150318611	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	3088059	150318611	98932010	6	12103											
FAM5C	339479	broad.mit.edu	37	1	190234152	190234152	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:190234152C>T	uc001gse.1	-	3	693	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	FAM5C_uc010pot.1_Missense_Mutation_p.R52Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	154						extracellular region		p.K153Q(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)					GCTCAACTTCCGCTTGTCCAC	0.388													T	190234152	C	T	190234152	3	4	174	1	0	0	0	0	1	0	0	0	5594	652	23	2	1859	2	FAM5C	1	190234152	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	39915541	190234152	59016469	7	12104											
LYST	1130	broad.mit.edu	37	1	235922440	235922440	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:235922440C>T	uc001hxj.2	-	22	6888	c.6713G>A	c.(6712-6714)cGa>cAa	p.R2238Q	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2238					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			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)			GCTGTGGCTTCGCTGGAAGGA	0.527													T	235922440	C	T	235922440	3	4	174	1	0	0	0	0	1	0	0	0	9128	884	31	2	4816	2	LYST	1	235922440	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	45688288	235922440	13328181	8	12105											
FBXO41	150726	broad.mit.edu	37	2	73493658	73493658	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr2:73493658G>A	uc021vjh.1	-	1	1148	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	353						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGCGCTGGGCGTGCTGCCACA	0.692													A	73493658	G	A	73493658	3	1	174	1	0	0	0	0	1	0	0	0	5750	1145	40	1	1613	1	FBXO41	2	73493658	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		73493658	169705715	9	12106											
SCN7A	6332	broad.mit.edu	37	2	167328840	167328840	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr2:167328840C>T	uc002udu.2	-	4	689	c.559G>A	c.(559-561)Gta>Ata	p.V187I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	187					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V187I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AACACAGTTACGCTGAAATCG	0.338													T	167328840	C	T	167328840	3	4	174	1	0	0	0	0	1	0	0	0	13923	536	19	1	4573	1	SCN7A	2	167328840	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	93835182	167328840	75870533	10	12107											
DCLK3	85443	broad.mit.edu	37	3	36779849	36779850	+	Frame_Shift_Ins	INS	-	-	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:36779849_36779850insC	uc003cgi.2	-	1	792_793	c.301_302insG	c.(301-303)gagfs	p.E101fs		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	101						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.E101*(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGGTTCTGGCTCCCATTTCCCC	0.589													C	36779850	-	C	36779849	7	5	174	1	0	1	1	0	0	0	0	0	4293	1551	54	0	1660	0	DCLK3	3	36779849	Frame_Shift_Ins	INS	-	TCGA-26-5132-01A-01D-1486-08		36779849	161242581	11	12108											
SLCO2A1	6578	broad.mit.edu	37	3	133653573	133653573	+	Missense_Mutation	SNP	G	G	A	rs142805553	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:133653573G>A	uc003eqa.4	-	13	2190	c.1916C>T	c.(1915-1917)gCg>gTg	p.A639V		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	639					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.A639A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAGGCCTGCCGCCTTCTGCAC	0.567													A	133653573	G	A	133653573	3	1	174	1	0	0	0	0	1	0	0	0	14726	1087	38	1	19	1	SLCO2A1	3	133653573	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08	96873724	133653573	64368857	12	12109											
DNAJC19	131118	broad.mit.edu	37	3	180705861	180705861	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:180705861T>C	uc003fkt.3	-	2	251	c.79A>G	c.(79-81)Aag>Gag	p.K27E	DNAJC19_uc021xhv.1_Missense_Mutation_p.K2E|DNAJC19_uc021xhw.1_Missense_Mutation_p.K2E|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	27					genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TCCATATGCTTCATGGCTTGC	0.388													C	180705861	T	C	180705861	3	2	174	1	0	0	0	0	1	0	0	0	4638	1792	62	4	287	4	DNAJC19	3	180705861	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	47052288	180705861	17316569	13	12110											
LGI2	55203	broad.mit.edu	37	4	25014080	25014080	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr4:25014080C>T	uc003grf.2	-	6	796	c.697G>A	c.(697-699)Gtg>Atg	p.V233M		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	233						extracellular region		p.V233V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AACGTATCCACTGAAACCGAC	0.453													T	25014080	C	T	25014080	3	4	174	1	0	0	0	0	1	0	0	0	8752	565	20	3	948	3	LGI2	4	25014080	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		25014080	166140196	14	12111											
DCHS2	54798	broad.mit.edu	37	4	155219629	155219629	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr4:155219629G>T	uc003inw.2	-	17	4472	c.4472C>A	c.(4471-4473)gCt>gAt	p.A1491D		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1491	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCCACTTCAGCATCTTCTCT	0.463													T	155219629	G	T	155219629	3	4	174	1	0	0	0	0	1	0	0	0	4288	971	34	5	4310	5	DCHS2	4	155219629	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08	130205549	155219629	35934647	15	12112											
SLC6A19	340024	broad.mit.edu	37	5	1214110	1214110	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:1214110G>A	uc003jbw.4	+	5	873	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	273					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			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)			GGACGCGGGCGCACAGGTCTT	0.647													A	1214110	G	A	1214110	3	1	174	1	0	0	0	0	1	0	0	0	14682	1087	38	1	839	1	SLC6A19	5	1214110	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		1214110	179701150	16	12113											
ADAMTS12	81792	broad.mit.edu	37	5	33576573	33576573	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:33576573G>A	uc003jia.1	-	18	3721	c.3558C>T	c.(3556-3558)gaC>gaT	p.D1186D	ADAMTS12_uc010iuq.1_Silent_p.D1101D	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1186	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						CCACTGGAGCGTCATTTCCAG	0.498										HNSCC(64;0.19)			A	33576573	G	A	33576573	2	1	174	1	0	0	0	0	0	0	0	1	257	1136	40	1		1	ADAMTS12	5	33576573	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	32362463	33576573	147338687	17	12114											
HIST1H4G	8369	broad.mit.edu	37	6	26247188	26247188	+	Silent	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:26247188C>T	uc003nhf.3	-	0	18	c.18G>A	c.(16-18)aaG>aaA	p.K6K		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	6					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTTTCCGGCCTTGCCCCGAA	0.483													T	26247188	C	T	26247188	2	4	174	1	0	0	0	0	0	0	0	1	7171	680	24	3		3	HIST1H4G	6	26247188	Silent	SNP	C	TCGA-26-5132-01A-01D-1486-08		26247188	144867879	18	12115											
ZFP57	346171	broad.mit.edu	37	6	29641134	29641134	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:29641134C>T	uc011dlw.2	-	3	905	c.754G>A	c.(754-756)Gtc>Atc	p.V252I		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	168					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CCCAGATGGACGCGGCGGTGA	0.557													T	29641134	C	T	29641134	3	4	174	1	0	0	0	0	1	0	0	0	17648	536	19	1	860	1	ZFP57	6	29641134	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	3393946	29641134	141473933	19	12116											
TJAP1	93643	broad.mit.edu	37	6	43470020	43470020	+	Splice_Site	SNP	G	G	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:43470020G>T	uc003ovd.2	+	7	667	c.291_splice	c.e7-1	p.R97_splice	TJAP1_uc003ovf.2_Splice_Site_p.R97_splice|TJAP1_uc003ove.2_Splice_Site_p.R97_splice|TJAP1_uc003ovc.2_Splice_Site_p.R97_splice|TJAP1_uc010jyp.2_Splice_Site_p.R56_splice|TJAP1_uc011dvh.1_Splice_Site_p.R97_splice|TJAP1_uc003ovg.2_Splice_Site|TJAP1_uc010jyq.2_Splice_Site_p.R97_splice|TJAP1_uc011dvi.1_Splice_Site_p.R97_splice|TJAP1_uc011dvj.2_Splice_Site|TJAP1_uc003ovi.2_5'UTR	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	97						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCCTTTTCAGGCTGCAGAAC	0.547													T	43470020	G	T	43470020	5	4	174	1	0	0	0	0	0	0	1	0	15925	1014	35	5	304	5	TJAP1	6	43470020	Splice_Site	SNP	G	TCGA-26-5132-01A-01D-1486-08	13828886	43470020	127645047	20	12117											
HDAC2	3066	broad.mit.edu	37	6	114264560	114264563	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:114264560_114264563delCTTT	uc003pwd.2	-	11	1617_1620	c.1330_1333delAAAG	c.(1330-1335)aaagctfs	p.K444fs	HDAC2_uc003pwc.2_Frame_Shift_Del_p.K414fs|HDAC2_uc003pwe.2_Frame_Shift_Del_p.K414fs	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	444					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	tcaattctagctttctttgctcct	0.353													-	114264563	CTTT	-	114264560	7	5	174	1	0	1	0	1	0	0	0	0	7007	797	28	0	145	0	HDAC2	6	114264560	Frame_Shift_Del	DEL	CTTT	TCGA-26-5132-01A-01D-1486-08	70794540	114264560	56850507	21	12118											
HEY2	23493	broad.mit.edu	37	6	126080793	126080793	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:126080793C>T	uc003qad.3	+	4	1050	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	HEY2_uc011ebr.2_Missense_Mutation_p.P241S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	287	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGGGCATTCCCCATGCTTCC	0.667													T	126080793	C	T	126080793	3	4	174	1	0	0	0	0	1	0	0	0	7079	623	22	3	877	3	HEY2	6	126080793	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	11816233	126080793	45034274	22	12119											
HOXA6	3203	broad.mit.edu	37	7	27185435	27185435	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:27185435G>A	uc003syo.2	-	1	569	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CGGCGGCGCCGTGTCAGGTAG	0.602													A	27185435	G	A	27185435	3	1	174	1	0	0	0	0	1	0	0	0	7296	1144	40	1	161	1	HOXA6	7	27185435	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		27185435	131953228	23	12120											
CCDC132	55610	broad.mit.edu	37	7	92985271	92985271	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:92985271T>C	uc003umo.3	+	26	2782	c.2654T>C	c.(2653-2655)tTa>tCa	p.L885S	CCDC132_uc003ump.3_Missense_Mutation_p.L855S|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.L605S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	885										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CAACAGTTTTTAATGAAACTT	0.303													C	92985271	T	C	92985271	3	2	174	1	0	0	0	0	1	0	0	0	2767	1764	61	4	2802	4	CCDC132	7	92985271	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	65799836	92985271	66153392	24	12121											
PEG10	23089	broad.mit.edu	37	7	94293142	94293142	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:94293142A>G	uc003uno.3	+	1	753	c.274A>G	c.(274-276)Atg>Gtg	p.M92V	PEG10_uc011kie.2_Missense_Mutation_p.M168V|PEG10_uc022ahn.1_Missense_Mutation_p.M92V	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	92	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAACCCAGACATGCTGGCTCC	0.562													G	94293142	A	G	94293142	3	3	174	1	0	0	0	0	1	0	0	0	11719	217	8	4	508	4	PEG10	7	94293142	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	1307871	94293142	64845521	25	12122											
OR2AE1	81392	broad.mit.edu	37	7	99474406	99474406	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:99474406T>C	uc003usc.1	-	0	251	c.251A>G	c.(250-252)aAc>aGc	p.N84S		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGATAGGTAGTTGGTAGCCAT	0.468													C	99474406	T	C	99474406	3	2	174	1	0	0	0	0	1	0	0	0	10983	1725	60	4	724	4	OR2AE1	7	99474406	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	5181264	99474406	59664257	26	12123											
KRBA1	84626	broad.mit.edu	37	7	149431067	149431067	+	Silent	SNP	A	A	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:149431067A>T	uc003wfz.3	+	17	3420	c.3021A>T	c.(3019-3021)ggA>ggT	p.G1007G	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.G615G	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	1008										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTGGGAGGAGTGCAGAGGG	0.647													T	149431067	A	T	149431067	2	4	174	1	0	0	0	0	0	0	0	1	8439	291	11	5		5	KRBA1	7	149431067	Silent	SNP	A	TCGA-26-5132-01A-01D-1486-08	49956661	149431067	9707596	27	12124											
ANK1	286	broad.mit.edu	37	8	41519452	41519452	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr8:41519452C>T	uc003xok.3	-	40	5570	c.5486G>A	c.(5485-5487)cGc>cAc	p.R1829H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R983H|ANK1_uc003xoi.3_Missense_Mutation_p.R1829H|ANK1_uc003xoj.3_Missense_Mutation_p.R1829H|ANK1_uc003xol.3_Missense_Mutation_p.R1667H|ANK1_uc003xom.3_Missense_Mutation_p.R1870H|ANK1_uc003xof.3_Intron|ANK1_uc011lcl.2_Missense_Mutation_p.R104H|ANK1_uc003xod.3_Missense_Mutation_p.R104H|ANK1_uc003xoc.3_Missense_Mutation_p.R104H|MIR486_uc022auh.1_5'Flank	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1829	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AACCACCTTGCGAATGATCTA	0.602													T	41519452	C	T	41519452	3	4	174	1	0	0	0	0	1	0	0	0	620	768	27	1	270	1	ANK1	8	41519452	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		41519452	104844570	28	12125											
SLC28A3	64078	broad.mit.edu	37	9	86917142	86917142	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:86917142A>G	uc010mpz.3	-	4	643	c.497T>C	c.(496-498)cTa>cCa	p.L166P	SLC28A3_uc011lsy.2_Missense_Mutation_p.L97P|SLC28A3_uc004anu.2_Missense_Mutation_p.L166P|SLC28A3_uc010mqb.3_Missense_Mutation_p.L97P	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	166					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGGCTGTTTAGAAGCCTTCT	0.433													G	86917142	A	G	86917142	3	3	174	1	0	0	0	0	1	0	0	0	14533	420	15	4	1634	4	SLC28A3	9	86917142	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08		86917142	54296289	29	12126											
NAA35	60560	broad.mit.edu	37	9	88627995	88627995	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:88627995A>T	uc004aoi.4	+	15	1462	c.1325A>T	c.(1324-1326)aAc>aTc	p.N442I	NAA35_uc004aoj.4_Missense_Mutation_p.N442I	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	442					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CATGGACATAACAGGGCTCGA	0.378													T	88627995	A	T	88627995	3	4	174	1	0	0	0	0	1	0	0	0	10123	43	2	5	1383	5	NAA35	9	88627995	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	1710853	88627995	52585436	30	12127											
SUSD3	203328	broad.mit.edu	37	9	95841846	95841846	+	Silent	SNP	C	C	T	rs146086851	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:95841846C>T	uc004atb.3	+	3	555	c.519C>T	c.(517-519)agC>agT	p.S173S	SUSD3_uc004atc.3_Silent_p.S160S	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	Homo sapiens sushi domain containing 3 (SUSD3), mRNA.	173						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AACCCGTGAGCGGGCCCAGCC	0.642													T	95841846	C	T	95841846	2	4	174	1	0	0	0	0	0	0	0	1	15406	767	27	1		1	SUSD3	9	95841846	Silent	SNP	C	TCGA-26-5132-01A-01D-1486-08	7213851	95841846	45371585	31	12128											
DDX31	64794	broad.mit.edu	37	9	135470499	135470500	+	Splice_Site	DEL	CC	CC	-			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:135470499_135470500delCC	uc004cbq.1	-	20	2462	c.2310_splice	c.e20-1	p.R770_splice	DDX31_uc010mzu.1_Splice_Site_p.R697_splice	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	770						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GAAGGTCAGGCCTGAAGAACAG	0.46													-	135470500	CC	-	135470499	8	5	174	1	0	1	0	1	0	0	1	0	4356	753	26	0	249	0	DDX31	9	135470499	Splice_Site	DEL	CC	TCGA-26-5132-01A-01D-1486-08	39628653	135470499	5742932	32	12129											
HSPA14	51182	broad.mit.edu	37	10	14891809	14891809	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr10:14891809G>A	uc001inf.3	+	6	608	c.467_splice	c.e6+1	p.G156_splice	HSPA14_uc010qbw.2_Missense_Mutation_p.G156R	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	156					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AAATGCTCTTGGGTAAGTATA	0.338													A	14891809	G	A	14891809	3	1	174	1	0	0	0	0	1	0	0	0	7407	1362	47	3	488	3	HSPA14	10	14891809	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		14891809	120642938	33	12130											
PTEN	5728	broad.mit.edu	37	10	89720650	89720650	+	Splice_Site	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr10:89720650G>A	uc001kfb.3	+	8	1834	c.802_splice	c.e8-1	p.D268_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	268	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		tttttttttAGGACAAAATGT	0.264		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720650	G	A	89720650	5	1	174	1	0	0	0	0	0	0	1	0	12738	1014	35	3	831	3	PTEN	10	89720650	Splice_Site	SNP	G	TCGA-26-5132-01A-01D-1486-08	74828841	89720650	45814097	34	12131											
MUC2	4583	broad.mit.edu	37	11	1084747	1084747	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:1084747C>T	uc001lsx.1	+	19	2569	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	848						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAAGAGAGGACGCTGGGTGTG	0.602													T	1084747	C	T	1084747	3	4	174	1	0	0	0	0	1	0	0	0	9975	536	19	1	2620	1	MUC2	11	1084747	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		1084747	133921769	35	12132											
NELL1	4745	broad.mit.edu	37	11	21596532	21596532	+	Silent	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:21596532T>C	uc009yid.3	+	20	2634	c.2481T>C	c.(2479-2481)tgT>tgC	p.C827C	NELL1_uc010rdp.2_Silent_p.C512C|NELL1_uc001mqe.3_Silent_p.C799C|NELL1_uc001mqf.3_Silent_p.C752C|NELL1_uc010rdo.2_Silent_p.C742C|NELL1_uc001mqh.3_Silent_p.C344C	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	799					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						GAAGAGTCTGTTGTTCTGTGG	0.353													C	21596532	T	C	21596532	2	2	174	1	0	0	0	0	0	0	0	1	10333	1731	60	4		4	NELL1	11	21596532	Silent	SNP	T	TCGA-26-5132-01A-01D-1486-08	20511785	21596532	113409984	36	12133											
OR5D18	219438	broad.mit.edu	37	11	55587476	55587476	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:55587476T>C	uc010rin.2	+	0	371	c.371T>C	c.(370-372)tTc>tCc	p.F124S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				TATGACCGCTTCGTGGCCATT	0.458													C	55587476	T	C	55587476	3	2	174	1	0	0	0	0	1	0	0	0	11157	1783	62	4	373	4	OR5D18	11	55587476	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	33990944	55587476	79419040	37	12134											
PANX3	116337	broad.mit.edu	37	11	124489386	124489386	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:124489386A>G	uc001qah.3	+	3	734	c.734A>G	c.(733-735)aAg>aGg	p.K245R		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	245					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGCTCCATCAAGACAGGGCTG	0.488													G	124489386	A	G	124489386	3	3	174	1	0	0	0	0	1	0	0	0	11422	72	3	4	748	4	PANX3	11	124489386	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	68901910	124489386	10517130	38	12135											
ABCC9	10060	broad.mit.edu	37	12	21995285	21995285	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:21995285A>T	uc001rfh.3	-	26	3456	c.3436T>A	c.(3436-3438)Ttt>Att	p.F1146I	ABCC9_uc001rfi.1_Missense_Mutation_p.F1146I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1146	ABC transmembrane type-1 2.				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			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)	ATAAAATAAAAGGCAACACCA	0.438													T	21995285	A	T	21995285	3	4	174	1	0	0	0	0	1	0	0	0	59	72	3	5	1403	5	ABCC9	12	21995285	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08		21995285	111856610	39	12136											
ITPR2	3709	broad.mit.edu	37	12	26808744	26808744	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:26808744C>T	uc001rhg.3	-	19	2903	c.2486G>A	c.(2485-2487)aGg>aAg	p.R829K		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	829					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGCAAATTTCCTCTTCATATC	0.313													T	26808744	C	T	26808744	3	4	174	1	0	0	0	0	1	0	0	0	7921	681	24	3	5771	3	ITPR2	12	26808744	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	4813459	26808744	107043151	40	12137											
ADAMTS20	80070	broad.mit.edu	37	12	43771195	43771195	+	Silent	SNP	G	G	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:43771195G>C	uc010skx.2	-	31	4968	c.4968C>G	c.(4966-4968)gcC>gcG	p.A1656A		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1656	TSP type-1 15.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCCAAGTGGCCAAATGCA	0.403													C	43771195	G	C	43771195	2	2	174	1	0	0	0	0	0	0	0	1	266	1335	47	5		5	ADAMTS20	12	43771195	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	16962451	43771195	90080700	41	12138											
SUDS3	64426	broad.mit.edu	37	12	118841310	118841310	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:118841310A>G	uc001twz.3	+	9	930	c.791A>G	c.(790-792)tAt>tGt	p.Y264C		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.	264					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAACTGTACTATGACAAAAGA	0.483													G	118841310	A	G	118841310	3	3	174	1	0	0	0	0	1	0	0	0	15366	449	16	4	829	4	SUDS3	12	118841310	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	75070115	118841310	15010585	42	12139											
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Nonsense_Mutation	SNP	C	C	T	rs3092891		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr13:48953730C>T	uc001vcb.3	+	14	1499	c.1333_splice	c.e14-1	p.R445_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTGTAGCGATACAAACT	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48953730	C	T	48953730	4	4	174	1	0	0	0	0	0	1	0	0	13098	782	27	1	1387	1	RB1	13	48953730	Nonsense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		48953730	66216148	43	12140											
THBS1	7057	broad.mit.edu	37	15	39874516	39874516	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:39874516G>A	uc001zkh.3	+	2	369	c.190G>A	c.(190-192)Gcc>Acc	p.A64T		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	64	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CATCGAGGATGCCAACCTGAT	0.612													A	39874516	G	A	39874516	3	1	174	1	0	0	0	0	1	0	0	0	15850	1319	46	3	196	3	THBS1	15	39874516	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		39874516	62656876	44	12141											
CDAN1	146059	broad.mit.edu	37	15	43022940	43022940	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:43022940C>T	uc001zql.3	-	13	2147	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Missense_Mutation_p.G3R	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	677						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAGCAGAGTCCGCACATCCAG	0.647													T	43022940	C	T	43022940	3	4	174	1	0	0	0	0	1	0	0	0	3054	652	23	2	1713	2	CDAN1	15	43022940	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	3148424	43022940	59508452	45	12142											
ZCCHC14	23174	broad.mit.edu	37	16	87448889	87448889	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr16:87448889G>T	uc002fjz.1	-	8	1084	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.L129M	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	353					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTTTTCCAGCTCCAGCTGG	0.423													T	87448889	G	T	87448889	3	4	174	1	0	0	0	0	1	0	0	0	17580	962	34	5	1812	5	ZCCHC14	16	87448889	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		87448889	2905864	46	12143											
PRPF8	10594	broad.mit.edu	37	17	1577829	1577829	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:1577829T>C	uc002fte.3	-	20	3320	c.3206A>G	c.(3205-3207)aAt>aGt	p.N1069S		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1069						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.N1069D(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAGAAAGTCATTTGGCATCTG	0.507													C	1577829	T	C	1577829	3	2	174	1	0	0	0	0	1	0	0	0	12575	1493	52	4	3893	4	PRPF8	17	1577829	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08		1577829	79617381	47	12144											
ALDH3A1	218	broad.mit.edu	37	17	19644516	19644516	+	Missense_Mutation	SNP	C	C	T	rs140108064	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:19644516C>T	uc002gwk.3	-	3	1311	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	ALDH3A1_uc010cqu.3_Missense_Mutation_p.A233T|ALDH3A1_uc010vzd.2_Missense_Mutation_p.A233T|ALDH3A1_uc002gwj.3_Missense_Mutation_p.A233T|ALDH3A1_uc010cqv.3_Missense_Mutation_p.A233T|ALDH3A1_uc002gwl.1_Missense_Mutation_p.A160T			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	233					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TTCCCCCAGGCGATGCGTCTG	0.537													T	19644516	C	T	19644516	3	4	174	1	0	0	0	0	1	0	0	0	497	768	27	1	688	1	ALDH3A1	17	19644516	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	18066687	19644516	61550694	48	12145											
SEZ6	124925	broad.mit.edu	37	17	27287691	27287691	+	Splice_Site	SNP	T	T	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:27287691T>A	uc002hdp.2	-	7	1604	c.1410_splice	c.e7-1	p.R470_splice	SEZ6_uc002hdm.2_Splice_Site|SEZ6_uc010cry.1_Splice_Site_p.R470_splice|SEZ6_uc002hdq.1_Splice_Site_p.R345_splice	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	470	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATGATGAGCCTGAACCAGGAG	0.592													A	27287691	T	A	27287691	5	1	174	1	0	0	0	0	0	0	1	0	14142	1594	55	5	1633	5	SEZ6	17	27287691	Splice_Site	SNP	T	TCGA-26-5132-01A-01D-1486-08	7643175	27287691	53907519	49	12146											
KRT9	3857	broad.mit.edu	37	17	39724628	39724628	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:39724628G>A	uc002hxe.4	-	5	1246	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	394	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.A393V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTCTTCTCCAGAGCTGCTTTC	0.532													A	39724628	G	A	39724628	2	1	174	1	0	0	0	0	0	0	0	1	8501	933	33	3		3	KRT9	17	39724628	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	12436937	39724628	41470582	50	12147											
C19orf40	91442	broad.mit.edu	37	19	33464993	33464993	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr19:33464993G>A	uc002nud.4	+	3	389	c.271G>A	c.(271-273)Gtt>Att	p.V91I	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	91					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					AATTGTAGTCGTTGAAAAAAC	0.418								Direct reversal of damage					A	33464993	G	A	33464993	3	1	174	1	0	0	0	0	1	0	0	0	1923	1145	40	1	281	1	C19orf40	19	33464993	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		33464993	25663990	51	12148											
DMRTC2	63946	broad.mit.edu	37	19	42352997	42352997	+	Silent	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr19:42352997C>T	uc010xwe.2	+	4	665	c.582C>T	c.(580-582)tgC>tgT	p.C194C	DMRTC2_uc002orr.1_Silent_p.C71C|DMRTC2_uc002ors.3_Silent_p.C194C	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	194	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CAGTGGTGTGCCGCCTGCTGT	0.567													T	42352997	C	T	42352997	2	4	174	1	0	0	0	0	0	0	0	1	4591	747	26	3		3	DMRTC2	19	42352997	Silent	SNP	C	TCGA-26-5132-01A-01D-1486-08	8888004	42352997	16775986	52	12149											
CD93	22918	broad.mit.edu	37	20	23065459	23065459	+	Silent	SNP	G	G	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr20:23065459G>A	uc002wsv.3	-	0	1519	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	457	EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGCACCCAGCCTGGCAGGC	0.632													A	23065459	G	A	23065459	2	1	174	1	0	0	0	0	0	0	0	1	3047	958	34	3		3	CD93	20	23065459	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08		23065459	39960061	53	12150											
TOP1	7150	broad.mit.edu	37	20	39704846	39704848	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr20:39704846_39704848delAGG	uc002xjl.3	+	3	437_439	c.191_193delAGG	c.(190-195)aaggag>aag	p.E65del	TOP1_uc010gge.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	65	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	cacaaagagaaggagaagaccaa	0.374			T	NUP98	AML*								-	39704848	AGG	-	39704846	7	5	174	1	0	1	0	1	0	0	0	0	16360	72	3	0	205	0	TOP1	20	39704846	In_Frame_Del	DEL	AGG	TCGA-26-5132-01A-01D-1486-08	16639387	39704846	23320674	54	12151											
DCAF8L1	139425	broad.mit.edu	37	X	27998785	27998785	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:27998785A>G	uc004dbx.1	-	0	782	c.667T>C	c.(667-669)Tgg>Cgg	p.W223R		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	223										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACCCAGTCCCACACTATCACC	0.498													G	27998785	A	G	27998785	3	3	174	1	0	0	0	0	1	0	0	0	4277	159	6	4	1139	4	DCAF8L1	23	27998785	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08		27998785	127271775	55	12152											
MED12	9968	broad.mit.edu	37	X	70341430	70341430	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:70341430C>T	uc004dyy.3	+	6	1064	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	MED12_uc011mpq.1_Nonsense_Mutation_p.Q289*|MED12_uc004dyz.3_Nonsense_Mutation_p.Q289*|MED12_uc004dza.3_Nonsense_Mutation_p.Q136*	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	289					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATTTGTTCAGTCTGCATA	0.502			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						T	70341430	C	T	70341430	4	4	174	1	0	0	0	0	0	1	0	0	9428	827	29	3	891	3	MED12	23	70341430	Nonsense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	42342645	70341430	84929130	56	12153											
MAGEA6	4105	broad.mit.edu	37	X	151870122	151870122	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:151870122T>A	uc022chf.1	+	0	812	c.812T>A	c.(811-813)tTc>tAc	p.F271Y	MAGEA6_uc004ffq.1_Missense_Mutation_p.F271Y|MAGEA6_uc004ffr.1_Missense_Mutation_p.F271Y	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	271	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTATGAGTTCCTGTGGGGT	0.532													A	151870122	T	A	151870122	3	1	174	1	0	0	0	0	1	0	0	0	9170	1783	62	5	814	5	MAGEA6	23	151870122	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	81528692	151870122	3400438	57	12154											
MUTYH	4595	broad.mit.edu	37	1	45797465	45797465	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:45797465T>A	uc001cnm.3	-	11	1261	c.1045A>T	c.(1045-1047)Acc>Tcc	p.T349S	MUTYH_uc001cnf.3_Missense_Mutation_p.T324S|MUTYH_uc009vxo.3_Missense_Mutation_p.T324S|MUTYH_uc001cng.3_Missense_Mutation_p.T335S|MUTYH_uc001cnj.3_Missense_Mutation_p.T232S|MUTYH_uc001cni.3_Missense_Mutation_p.T324S|MUTYH_uc001cnh.3_Missense_Mutation_p.T325S|MUTYH_uc001cnl.3_Missense_Mutation_p.T338S|MUTYH_uc009vxp.3_Missense_Mutation_p.T352S|MUTYH_uc001cnn.3_Missense_Mutation_p.T339S|MUTYH_uc001cno.3_Missense_Mutation_p.T232S|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	349					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACTCCCAGGGTCTGGTCCCAG	0.652			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				A	45797465	T	A	45797465	3	1	175	1	0	0	0	0	1	0	0	0	9993	1667	58	5	615	5	MUTYH	1	45797465	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08		45797465	203453156	1	12155											
CTSK	1513	broad.mit.edu	37	1	150771721	150771721	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:150771721G>A	uc001evp.2	-	6	1042	c.813C>T	c.(811-813)agC>agT	p.S271S		NM_000396	NP_000387	P43235	CATK_HUMAN	Homo sapiens cathepsin K (CTSK), mRNA.	271					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAGATTATCGCTATTGCAGC	0.433													A	150771721	G	A	150771721	2	1	175	1	0	0	0	0	0	0	0	1	4037	1078	38	1		1	CTSK	1	150771721	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	104974256	150771721	98478900	2	12156											
FCRL1	115350	broad.mit.edu	37	1	157772382	157772382	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:157772382A>C	uc001frg.3	-	3	505	c.392T>G	c.(391-393)gTc>gGc	p.V131G	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Missense_Mutation_p.V131G|FCRL1_uc001fri.3_Missense_Mutation_p.V131G|FCRL1_uc001frj.3_Intron	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	131	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			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)			GCAGATGAGGACCAGCCTGTC	0.542													C	157772382	A	C	157772382	3	2	175	1	0	0	0	0	1	0	0	0	5794	275	10	5	995	5	FCRL1	1	157772382	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	7000661	157772382	91478239	3	12157											
HMCN1	83872	broad.mit.edu	37	1	186097315	186097315	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:186097315C>A	uc001grq.1	+	82	13025	c.12796C>A	c.(12796-12798)Cct>Act	p.P4266T	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4266	Ig-like C2-type 42.				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						TACTGAACTTCCTGGAGACGT	0.418													A	186097315	C	A	186097315	3	1	175	1	0	0	0	0	1	0	0	0	7220	855	30	5	13126	5	HMCN1	1	186097315	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	28324933	186097315	63153306	4	12158											
CACNA1S	779	broad.mit.edu	37	1	201021762	201021762	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:201021762G>A	uc001gvv.3	-	31	4103	c.3876C>T	c.(3874-3876)atC>atT	p.I1292I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1292					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCACCAAGGCGATCTTCCCAA	0.557													A	201021762	G	A	201021762	2	1	175	1	0	0	0	0	0	0	0	1	2547	1048	37	2		2	CACNA1S	1	201021762	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	14924447	201021762	48228859	5	12159											
TMEM18	129787	broad.mit.edu	37	2	669581	669581	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:669581C>T	uc002qwl.3	-	4	516	c.422G>A	c.(421-423)tGa>tAa	p.*141*	TMEM18_uc002qwk.3_Non-coding_Transcript	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	Homo sapiens transmembrane protein 18 (TMEM18), mRNA.	0					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		TGCTGCCCCTCAGTCttcttt	0.512													T	669581	C	T	669581	2	4	175	1	0	0	0	0	0	0	0	1	16095	837	29	3		3	TMEM18	2	669581	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08		669581	242529792	6	12160											
GREB1	9687	broad.mit.edu	37	2	11750922	11750922	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:11750922G>A	uc002rbk.1	+	17	3075	c.2775G>A	c.(2773-2775)tcG>tcA	p.S925S	GREB1_uc002rbo.1_Silent_p.S559S|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	925						integral to membrane		p.S925S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTACACGTCGGTGGAGACGC	0.657													A	11750922	G	A	11750922	2	1	175	1	0	0	0	0	0	0	0	1	6760	1103	39	2		2	GREB1	2	11750922	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	11081341	11750922	231448451	7	12161											
APOB	338	broad.mit.edu	37	2	21225763	21225763	+	Silent	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:21225763T>C	uc002red.3	-	28	12659	c.12531A>G	c.(12529-12531)cgA>cgG	p.R4177R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4177					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTGAGTAACTCGTACCAAGC	0.463													C	21225763	T	C	21225763	2	2	175	1	0	0	0	0	0	0	0	1	785	1538	54	4		4	APOB	2	21225763	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08	9474841	21225763	221973610	8	12162											
FMNL2	114793	broad.mit.edu	37	2	153399316	153399316	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:153399316C>T	uc002tye.3	+	2	632	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	89	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTATCTGGATCCAGCTGTAAC	0.433													T	153399316	C	T	153399316	3	4	175	1	0	0	0	0	1	0	0	0	5952	855	30	3	275	3	FMNL2	2	153399316	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	132173553	153399316	89800057	9	12163											
ACVR1C	130399	broad.mit.edu	37	2	158485147	158485147	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:158485147C>T	uc002tzk.4	-	0	253	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	ACVR1C_uc002tzl.4_Missense_Mutation_p.A4T|ACVR1C_uc010fof.3_Missense_Mutation_p.A4T	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	4					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAGCAGAGCGCCCGGGTCATC	0.751													T	158485147	C	T	158485147	3	4	175	1	0	0	0	0	1	0	0	0	222	739	26	3	1507	3	ACVR1C	2	158485147	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	5085831	158485147	84714226	10	12164											
CPS1	1373	broad.mit.edu	37	2	211476895	211476895	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:211476895T>C	uc010fur.3	+	20	2546	c.2464T>C	c.(2464-2466)Tgc>Cgc	p.C822R	CPS1_uc002vee.4_Missense_Mutation_p.C816R|CPS1_uc010fus.3_Missense_Mutation_p.C365R	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	816					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			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)		TTTACGGATGTGCCACCCATC	0.413													C	211476895	T	C	211476895	3	2	175	1	0	0	0	0	1	0	0	0	3823	1696	59	4	2546	4	CPS1	2	211476895	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	52991748	211476895	31722478	11	12165											
CYP27A1	1593	broad.mit.edu	37	2	219677652	219677652	+	Missense_Mutation	SNP	A	A	C	rs72551319		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:219677652A>C	uc002viz.4	+	4	1284	c.850A>C	c.(850-852)Aag>Cag	p.K284Q		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	284					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CACAGGGAAGAAGCTGATTGA	0.517													C	219677652	A	C	219677652	3	2	175	1	0	0	0	0	1	0	0	0	4158	247	9	5	868	5	CYP27A1	2	219677652	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	8200757	219677652	23521721	12	12166											
C2orf54	79919	broad.mit.edu	37	2	241831024	241831024	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:241831024G>A	uc002wae.4	-	1	830	c.671C>T	c.(670-672)cCt>cTt	p.P224L	C2orf54_uc002wac.3_Missense_Mutation_p.P56L|C2orf54_uc002wad.3_Missense_Mutation_p.P75L	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	224										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCTGCCCTCAGGGAATCCGGG	0.647													A	241831024	G	A	241831024	3	1	175	1	0	0	0	0	1	0	0	0	2175	1000	35	3	688	3	C2orf54	2	241831024	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	22153372	241831024	1368349	13	12167											
CX3CR1	1524	broad.mit.edu	37	3	39307958	39307958	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:39307958C>T	uc021wwc.1	-	1	179	c.139G>A	c.(139-141)Gat>Aat	p.D47N	CX3CR1_uc021wwa.1_Missense_Mutation_p.D15N|CX3CR1_uc021wwb.1_Missense_Mutation_p.D15N|CX3CR1_uc003cjl.3_Missense_Mutation_p.D15N|CX3CR1_uc021wwd.1_Missense_Mutation_p.D15N	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	15					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.D15N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCCAAATCATCGTACTCAAAG	0.448													T	39307958	C	T	39307958	3	4	175	1	0	0	0	0	1	0	0	0	4075	884	31	2	1028	2	CX3CR1	3	39307958	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		39307958	158714472	14	12168											
BAP1	8314	broad.mit.edu	37	3	52442518	52442518	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:52442518A>G	uc003ddx.3	-	3	342	c.227T>C	c.(226-228)aTt>aCt	p.I76T	PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	76					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I76fs*45(2)|p.I72fs*7(1)|p.D75G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTTATTCACAATATCATCATC	0.478			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							G	52442518	A	G	52442518	3	3	175	1	0	0	0	0	1	0	0	0	1311	101	4	4	2018	4	BAP1	3	52442518	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	13134560	52442518	145579912	15	12169											
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:53220653delG	uc003dgl.3	+	13	1647	c.1294delG	c.(1294-1296)gggfs	p.G432fs	PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	432	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602													-	53220653	G	-	53220653	7	5	175	1	0	1	0	1	0	0	0	0	12509	1116	39	0	1340	0	PRKCD	3	53220653	Frame_Shift_Del	DEL	G	TCGA-26-5133-01A-01D-1486-08	778135	53220653	144801777	16	12170											
ATXN7	6314	broad.mit.edu	37	3	63898472	63898472	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:63898472C>T	uc003dlv.3	+	2	751	c.198C>T	c.(196-198)ggC>ggT	p.G66G	ATXN7_uc003dlw.4_Silent_p.G66G|ATXN7_uc021wzy.1_Silent_p.G66G|ATXN7_uc010hnu.1_Non-coding_Transcript	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	66					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		gcgggcccggcgccgccTCCA	0.746													T	63898472	C	T	63898472	2	4	175	1	0	0	0	0	0	0	0	1	1215	755	27	1		1	ATXN7	3	63898472	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08	10677819	63898472	134123958	17	12171											
ZBBX	79740	broad.mit.edu	37	3	167034878	167034878	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:167034878A>T	uc011bpc.2	-	13	1446	c.1109T>A	c.(1108-1110)gTa>gAa	p.V370E	ZBBX_uc003feq.3_Missense_Mutation_p.V341E|ZBBX_uc003fep.3_Missense_Mutation_p.V370E	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	370						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTGTGTTGTACTTTGGTCTC	0.328													T	167034878	A	T	167034878	3	4	175	1	0	0	0	0	1	0	0	0	17513	391	14	5	1325	5	ZBBX	3	167034878	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	103136406	167034878	30987552	18	12172											
TMEM44	93109	broad.mit.edu	37	3	194325157	194325157	+	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:194325157delG	uc010hzn.3	-	9	1382	c.1176delC	c.(1174-1176)accfs	p.T392fs	TMEM44_uc010hzm.3_Frame_Shift_Del_p.P76fs|TMEM44_uc021xjc.1_Frame_Shift_Del_p.T77fs|TMEM44_uc003fuc.3_Frame_Shift_Del_p.T77fs|TMEM44_uc003fuf.3_Frame_Shift_Del_p.P344fs|TMEM44_uc003fue.3_Frame_Shift_Del_p.T345fs|TMEM44_uc011bsv.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	392						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGGCAGCCTGGTGGCACTGC	0.597													-	194325157	G	-	194325157	7	5	175	1	0	1	0	1	0	0	0	0	16165	1348	47	0	293	0	TMEM44	3	194325157	Frame_Shift_Del	DEL	G	TCGA-26-5133-01A-01D-1486-08	27290279	194325157	3697273	19	12173											
KIAA0232	9778	broad.mit.edu	37	4	6865692	6865692	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:6865692C>T	uc003gjr.4	+	6	4046	c.3583C>T	c.(3583-3585)Cag>Tag	p.Q1195*	KIAA0232_uc003gjq.4_Nonsense_Mutation_p.Q1195*	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1195							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACTGGATTCCCAGGAGGAATC	0.408													T	6865692	C	T	6865692	4	4	175	1	0	0	0	0	0	1	0	0	8163	595	21	3	3601	3	KIAA0232	4	6865692	Nonsense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		6865692	184288584	20	12174											
NAAA	27163	broad.mit.edu	37	4	76842123	76842123	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:76842123G>C	uc003hjb.3	-	5	884	c.820C>G	c.(820-822)Cta>Gta	p.L274V	NAAA_uc003hja.3_Missense_Mutation_p.L274V|NAAA_uc003hjc.4_Missense_Mutation_p.L274V|NAAA_uc003hjd.4_Non-coding_Transcript|NAAA_uc011cbq.2_Missense_Mutation_p.L173V	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	274					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAAGGATCTAGAGGCCAAATG	0.433													C	76842123	G	C	76842123	3	2	175	1	0	0	0	0	1	0	0	0	10127	933	33	5	286	5	NAAA	4	76842123	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	69976431	76842123	114312153	21	12175											
ETFDH	2110	broad.mit.edu	37	4	159603468	159603468	+	Silent	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:159603468T>C	uc003iqb.3	+	2	629	c.297T>C	c.(295-297)cgT>cgC	p.R99R	ETFDH_uc011cjg.2_Silent_p.R52R|ETFDH_uc010iqr.3_Intron|ETFDH_uc011cjh.2_Silent_p.R38R|ETFDH_uc010iqs.3_Silent_p.R38R	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	99					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGGACATCCGTGTGTGTCTAG	0.502													C	159603468	T	C	159603468	2	2	175	1	0	0	0	0	0	0	0	1	5271	1683	59	4		4	ETFDH	4	159603468	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08	82761345	159603468	31550808	22	12176											
PCDHGC5	56104	broad.mit.edu	37	5	140729895	140729896	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr5:140729895_140729896delTC	uc003ljo.2	+	0	68_69	c.68_69delTC	c.(67-69)ttcfs	p.F23fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Frame_Shift_Del_p.F23fs	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	22					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)			CTGTCTTTGTTCTGCGGGGCCA	0.55											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	140729896	TC	-	140729895	7	5	175	1	0	1	0	1	0	0	0	0	11571	1783	62	0		0	PCDHGC5	5	140729895	Frame_Shift_Del	DEL	TC	TCGA-26-5133-01A-01D-1486-08		140729895	40185365	23	12177											
C6orf10	10665	broad.mit.edu	37	6	32260945	32260945	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:32260945T>A	uc021yvt.1	-	22	1678	c.1505A>T	c.(1504-1506)gAa>gTa	p.E502V	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.E419V|C6orf10_uc011dpz.2_Missense_Mutation_p.E500V|C6orf10_uc021yvu.1_Missense_Mutation_p.E500V|C6orf10_uc021yvv.1_Missense_Mutation_p.E486V	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	502	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						tctctccttttctttatcatt	0.363													A	32260945	T	A	32260945	3	1	175	1	0	0	0	0	1	0	0	0	2317	1783	62	5	190	5	C6orf10	6	32260945	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08		32260945	138854122	24	12178											
HLA-DMB	3109	broad.mit.edu	37	6	32903319	32903319	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:32903319G>A	uc003ocl.2	-	3	996	c.733C>T	c.(733-735)Cac>Tac	p.H245Y	HLA-DMB_uc003ock.2_Non-coding_Transcript|HLA-DMB_uc010jud.2_Missense_Mutation_p.H114Y|HLA-DMB_uc010jue.2_Intron|HLA-DMB_uc010juf.2_Intron|HLA-DMB_uc003ocj.2_3'UTR	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	245					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCACTAGAGTGGCCAGCTCTC	0.537													A	32903319	G	A	32903319	3	1	175	1	0	0	0	0	1	0	0	0	7199	1348	47	3	70	3	HLA-DMB	6	32903319	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	642374	32903319	138211748	25	12179											
GRM4	2914	broad.mit.edu	37	6	34004117	34004117	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:34004117C>T	uc003oir.4	-	7	2133	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	GRM4_uc011dsn.2_Silent_p.L543L|GRM4_uc010jvh.3_Silent_p.L590L|GRM4_uc010jvi.3_Silent_p.L282L|GRM4_uc003oio.3_Silent_p.L282L|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.L450L|GRM4_uc003oiq.3_Silent_p.L457L|GRM4_uc011dsm.2_Silent_p.L421L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	590					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)	GGAAGAGGGGCAGCACGGCCC	0.647													T	34004117	C	T	34004117	2	4	175	1	0	0	0	0	0	0	0	1	6799	697	25	3		3	GRM4	6	34004117	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08	1100798	34004117	137110950	26	12180											
MCM3	4172	broad.mit.edu	37	6	52149470	52149470	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:52149470C>G	uc003pan.1	-	0	113	c.3G>C	c.(1-3)atG>atC	p.M1I	MCM3_uc011dwu.1_5'UTR	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	1					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CGGTACCCGCCATGCCCGCTG	0.642													G	52149470	C	G	52149470	3	3	175	1	0	0	0	0	1	0	0	0	9387	594	21	5	2491	5	MCM3	6	52149470	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	18145353	52149470	118965597	27	12181											
IKZF1	10320	broad.mit.edu	37	7	50450397	50450397	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:50450397C>T	uc003tow.4	+	4	736	c.581C>T	c.(580-582)aCg>aTg	p.T194M	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.T107M|IKZF1_uc022acu.1_Missense_Mutation_p.T107M|IKZF1_uc003tox.4_Missense_Mutation_p.T194M|IKZF1_uc022acv.1_Missense_Mutation_p.T107M|IKZF1_uc022acw.1_Missense_Mutation_p.T107M|IKZF1_uc022acx.1_Missense_Mutation_p.T194M|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Missense_Mutation_p.T107M|IKZF1_uc003toy.4_Missense_Mutation_p.T194M|IKZF1_uc003toz.4_Missense_Mutation_p.T164M|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	194	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACCTGAGGACGCACTCCGGT	0.657			"D,T"	BCL6	"ALL, DLBCL"								T	50450397	C	T	50450397	3	4	175	1	0	0	0	0	1	0	0	0	7614	536	19	1	595	1	IKZF1	7	50450397	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		50450397	108688266	28	12182											
TAF6	6878	broad.mit.edu	37	7	99711354	99711354	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:99711354G>A	uc003uth.3	-	2	590	c.453C>T	c.(451-453)ttC>ttT	p.F151F	TAF6_uc003utg.3_Silent_p.F35F|TAF6_uc003utm.3_Silent_p.F94F|TAF6_uc003uti.3_Silent_p.F94F|TAF6_uc003utk.3_Silent_p.F94F|TAF6_uc011kji.2_Silent_p.F131F	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	94					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCGAAGCGGAAAGGAATGA	0.602													A	99711354	G	A	99711354	2	1	175	1	0	0	0	0	0	0	0	1	15527	1165	41	3		3	TAF6	7	99711354	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	49260957	99711354	59427309	29	12183											
PIK3CG	5294	broad.mit.edu	37	7	106509904	106509904	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:106509904G>A	uc003vdv.4	+	1	1983	c.1898G>A	c.(1897-1899)tGc>tAc	p.C633Y	PIK3CG_uc003vdu.3_Missense_Mutation_p.C633Y|PIK3CG_uc003vdw.3_Missense_Mutation_p.C633Y	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	633					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			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						CTCCTGGACTGCAACTTCTCA	0.448													A	106509904	G	A	106509904	3	1	175	1	0	0	0	0	1	0	0	0	11916	1319	46	3	1900	3	PIK3CG	7	106509904	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	6798550	106509904	52628759	30	12184											
ADAMDEC1	27299	broad.mit.edu	37	8	24251623	24251623	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr8:24251623C>A	uc003xdz.2	+	3	546	c.326C>A	c.(325-327)cCc>cAc	p.P109H	ADAMDEC1_uc010lub.2_Missense_Mutation_p.P30H|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P30H	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	109					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTGTACTCACCCAGAGGAGAG	0.463													A	24251623	C	A	24251623	3	1	175	1	0	0	0	0	1	0	0	0	254	623	22	5	340	5	ADAMDEC1	8	24251623	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		24251623	122112399	31	12185											
SNTB1	6641	broad.mit.edu	37	8	121644863	121644863	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr8:121644863T>C	uc010mdg.3	-	2	1043	c.817A>G	c.(817-819)Aag>Gag	p.K273E	SNTB1_uc003ype.3_Missense_Mutation_p.K273E	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	273	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ACCGTGTGCTTAGCATCTGGA	0.527													C	121644863	T	C	121644863	3	2	175	1	0	0	0	0	1	0	0	0	14872	1763	61	4	819	4	SNTB1	8	121644863	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	97393240	121644863	24719159	32	12186											
SH2D3C	10044	broad.mit.edu	37	9	130507361	130507361	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr9:130507361C>T	uc004bsc.3	-	6	1424	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	SH2D3C_uc010mxo.3_Missense_Mutation_p.A268T|SH2D3C_uc004bry.3_Missense_Mutation_p.A270T|SH2D3C_uc004brz.4_Missense_Mutation_p.A74T|SH2D3C_uc011mak.2_Missense_Mutation_p.A74T|SH2D3C_uc004bsb.3_Missense_Mutation_p.A360T|SH2D3C_uc004bsa.3_Missense_Mutation_p.A271T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	428					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTGCAGGGGCGGCATGGACA	0.627													T	130507361	C	T	130507361	3	4	175	1	0	0	0	0	1	0	0	0	14234	768	27	1	1324	1	SH2D3C	9	130507361	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		130507361	10706070	33	12187											
GFI1B	8328	broad.mit.edu	37	9	135863634	135863634	+	Missense_Mutation	SNP	G	G	A	rs145562579		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr9:135863634G>A	uc004ccg.3	+	3	644	c.289G>A	c.(289-291)Gac>Aac	p.D97N	GFI1B_uc010mzy.3_Missense_Mutation_p.D97N	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	97	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.D97Y(4)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCCACTGTCCGACTCACCCCC	0.587													A	135863634	G	A	135863634	3	1	175	1	0	0	0	0	1	0	0	0	6340	1058	37	2	299	2	GFI1B	9	135863634	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	5356273	135863634	5349797	34	12188											
PCDH15	65217	broad.mit.edu	37	10	55591167	55591167	+	Silent	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr10:55591167T>C	uc010qhy.1	-	30	4520	c.4125A>G	c.(4123-4125)ctA>ctG	p.L1375L	PCDH15_uc010qhq.2_Silent_p.L1375L|PCDH15_uc010qhr.2_Silent_p.L1370L|PCDH15_uc021pqv.1_Silent_p.L1370L|PCDH15_uc021pqw.1_Silent_p.L1382L|PCDH15_uc010qht.2_Silent_p.L1377L|PCDH15_uc021pqx.1_Silent_p.L1370L|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.L1370L|PCDH15_uc021pqz.1_Silent_p.L1348L|PCDH15_uc010qhv.1_Silent_p.L1370L|PCDH15_uc010qhw.1_Silent_p.L1333L|PCDH15_uc010qhx.1_Silent_p.L1299L|PCDH15_uc010qhz.1_Silent_p.L1370L|PCDH15_uc010qia.1_Silent_p.L1348L|PCDH15_uc001jju.1_Silent_p.L1370L|PCDH15_uc010qib.1_Silent_p.L1348L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1370					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			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)				CTGTGTATCCTAGACTTTCTC	0.483										HNSCC(58;0.16)			C	55591167	T	C	55591167	2	2	175	1	0	0	0	0	0	0	0	1	11511	1509	53	4		4	PCDH15	10	55591167	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08		55591167	79943580	35	12189											
PLA2G16	11145	broad.mit.edu	37	11	63381479	63381479	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr11:63381479G>A	uc001nxh.2	-	0	431	c.8C>T	c.(7-9)gCg>gTg	p.A3V	PLA2G16_uc001nxi.2_Missense_Mutation_p.R32C|PLA2G16_uc009you.1_Missense_Mutation_p.A3V	NM_007069	NP_009000	P53816	PAG16_HUMAN	Homo sapiens phospholipase A2, group XVI (PLA2G16), transcript variant 1, mRNA.	3					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TACAATGGGCGCACGCATCTT	0.617													A	63381479	G	A	63381479	3	1	175	1	0	0	0	0	1	0	0	0	11993	1087	38	1	496	1	PLA2G16	11	63381479	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08		63381479	71625037	36	12190											
ANO6	196527	broad.mit.edu	37	12	45823037	45823037	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:45823037G>A	uc010slf.2	+	20	3074	c.2739G>A	c.(2737-2739)gtG>gtA	p.V913V	ANO6_uc001roo.3_Silent_p.V892V|ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slg.2_Silent_p.V874V	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	892					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATATGGGGGTGATAGCTGAGC	0.373													A	45823037	G	A	45823037	2	1	175	1	0	0	0	0	0	0	0	1	701	1277	45	3		3	ANO6	12	45823037	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08		45823037	88028858	37	12191											
STAT6	6778	broad.mit.edu	37	12	57490672	57490672	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:57490672C>T	uc009zpg.3	-	20	2464	c.2462G>A	c.(2461-2463)tGc>tAc	p.C821Y	STAT6_uc009zpe.3_Missense_Mutation_p.C772Y|STAT6_uc001sna.3_Missense_Mutation_p.C772Y|STAT6_uc009zpf.3_Missense_Mutation_p.C772Y|STAT6_uc010srb.2_Missense_Mutation_p.C662Y|STAT6_uc010src.2_Missense_Mutation_p.C662Y|STAT6_uc010srd.2_Missense_Mutation_p.C662Y	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	772					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTGGCTCAGGCAGCTGTCTTC	0.642													T	57490672	C	T	57490672	3	4	175	1	0	0	0	0	1	0	0	0	15269	710	25	3	236	3	STAT6	12	57490672	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	11667635	57490672	76361223	38	12192											
OSBPL8	114882	broad.mit.edu	37	12	76791554	76791554	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:76791554T>C	uc001sye.1	-	7	1072	c.592A>G	c.(592-594)Atc>Gtc	p.I198V	OSBPL8_uc001syf.1_Missense_Mutation_p.I156V|OSBPL8_uc001syg.1_Missense_Mutation_p.I156V|OSBPL8_uc001syh.1_Missense_Mutation_p.I173V	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	198	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CGTTCAATGATTTCACAGGCA	0.408													C	76791554	T	C	76791554	3	2	175	1	0	0	0	0	1	0	0	0	11283	1493	52	4	2145	4	OSBPL8	12	76791554	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	19300882	76791554	57060341	39	12193											
EP400	57634	broad.mit.edu	37	12	132551418	132551418	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:132551418G>A	uc001ujn.3	+	48	8805	c.8653G>A	c.(8653-8655)Gtc>Atc	p.V2885I	EP400_uc021rgq.1_Missense_Mutation_p.V2884I|EP400_uc001ujm.3_Missense_Mutation_p.V2804I|EP400_uc001ujp.3_Missense_Mutation_p.V95I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2921					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.V2884I(2)|p.P2885P(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGTGGTGTCCGTCCCGGCAGC	0.682													A	132551418	G	A	132551418	3	1	175	1	0	0	0	0	1	0	0	0	5149	1145	40	1	8840	1	EP400	12	132551418	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	55759864	132551418	1300477	40	12194											
LMO7	4008	broad.mit.edu	37	13	76287343	76287343	+	Missense_Mutation	SNP	C	C	A	rs75385907		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr13:76287343C>A	uc021rkq.1	+	1	430	c.95C>A	c.(94-96)aCa>aAa	p.T32K	LMO7_uc010thv.2_Missense_Mutation_p.T84K|LMO7_uc001vjt.1_Missense_Mutation_p.T32K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	84						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATTTTGAAACAAAAGATTTT	0.318													A	76287343	C	A	76287343	3	1	175	1	0	0	0	0	1	0	0	0	8855	478	17	5	261	5	LMO7	13	76287343	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		76287343	38882535	41	12195											
OR11G2	390439	broad.mit.edu	37	14	20666093	20666093	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:20666093A>G	uc010tlb.2	+	0	599	c.599A>G	c.(598-600)aAc>aGc	p.N200S		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V199I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCTATCGTCAACATCTCCCAA	0.448													G	20666093	A	G	20666093	3	3	175	1	0	0	0	0	1	0	0	0	10925	43	2	4	601	4	OR11G2	14	20666093	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08		20666093	86683447	42	12196											
AKAP5	9495	broad.mit.edu	37	14	64936331	64936331	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:64936331T>C	uc021ruk.1	+	0	1219	c.1219T>C	c.(1219-1221)Tca>Cca	p.S407P	ZBTB25_uc001xhc.3_Intron|AKAP5_uc001xhd.4_Missense_Mutation_p.S407P	NM_004857	NP_004848	P24588	AKAP5_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 5 (AKAP5), mRNA.	407				S -> Y (in Ref. 3).	energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TATTCAGTTGTCAATAGAACA	0.348													C	64936331	T	C	64936331	3	2	175	1	0	0	0	0	1	0	0	0	454	1667	58	4	1221	4	AKAP5	14	64936331	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	44270238	64936331	42413209	43	12197											
HEATR4	399671	broad.mit.edu	37	14	73989140	73989140	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:73989140C>A	uc021rwe.1	-	2	1065	c.717G>T	c.(715-717)caG>caT	p.Q239H	HEATR4_uc021rwf.1_Missense_Mutation_p.Q192H|HEATR4_uc010tub.1_Missense_Mutation_p.Q239H	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGTCGTACTGCTGGCGCAGGA	0.582													A	73989140	C	A	73989140	3	1	175	1	0	0	0	0	1	0	0	0	7030	796	28	5	2427	5	HEATR4	14	73989140	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	9052809	73989140	33360400	44	12198											
LTBP2	4053	broad.mit.edu	37	14	74974771	74974771	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:74974771G>A	uc001xqa.3	-	24	4067	c.3680C>T	c.(3679-3681)cCg>cTg	p.P1227L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1227	Cys-rich.|EGF-like 13; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCCACACACGGGTCTGTGGT	0.582													A	74974771	G	A	74974771	3	1	175	1	0	0	0	0	1	0	0	0	9074	1116	39	2	1833	2	LTBP2	14	74974771	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	985631	74974771	32374769	45	12199											
ATP8B4	79895	broad.mit.edu	37	15	50190419	50190419	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:50190419A>T	uc001zxu.3	-	21	2461	c.2319T>A	c.(2317-2319)aaT>aaA	p.N773K	ATP8B4_uc010ber.3_Missense_Mutation_p.N646K|ATP8B4_uc010ufd.2_Missense_Mutation_p.N583K|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.N71K	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	773					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTAGGAGATCATTCTTGACAT	0.398													T	50190419	A	T	50190419	3	4	175	1	0	0	0	0	1	0	0	0	1197	214	8	5	1287	5	ATP8B4	15	50190419	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08		50190419	52340973	46	12200											
C15orf60	283677	broad.mit.edu	37	15	73832877	73832877	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:73832877G>A	uc002avq.3	+	2	329	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	C15orf60_uc010bjb.3_Intron	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	Homo sapiens chromosome 15 open reading frame 60 (C15orf60), mRNA.	101										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TGTAAGACGCGTGGATTGTCT	0.383													A	73832877	G	A	73832877	3	1	175	1	0	0	0	0	1	0	0	0	1808	1145	40	1	311	1	C15orf60	15	73832877	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	23642458	73832877	28698515	47	12201											
KIAA1199	57214	broad.mit.edu	37	15	81213426	81213426	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:81213426C>T	uc002bfw.1	+	14	2317	c.2057C>T	c.(2056-2058)gCc>gTc	p.A686V	KIAA1199_uc010unn.1_Missense_Mutation_p.A686V	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	686								p.A686V(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCAACTGTGCCGCTGCAGGA	0.547													T	81213426	C	T	81213426	3	4	175	1	0	0	0	0	1	0	0	0	8213	739	26	3	2111	3	KIAA1199	15	81213426	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	7380549	81213426	21317966	48	12202											
RHBDL1	9028	broad.mit.edu	37	16	727863	727863	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:727863G>A	uc002cis.1	+	6	1155	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	RHBDL1_uc002cir.1_Silent_p.A311A|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.3_5'Flank|STUB1_uc002ciu.3_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	376					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCTTCATGGCGCACCTGGCAG	0.736													A	727863	G	A	727863	2	1	175	1	0	0	0	0	0	0	0	1	13321	1074	38	1		1	RHBDL1	16	727863	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08		727863	89626890	49	12203											
KIAA0430	9665	broad.mit.edu	37	16	15690712	15690712	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:15690712C>T	uc002ddr.3	-	26	5274	c.5067G>A	c.(5065-5067)tcG>tcA	p.S1689S	KIAA0430_uc002ddq.3_Silent_p.S1523S|KIAA0430_uc010uzv.2_Silent_p.S1686S|KIAA0430_uc010uzw.2_Silent_p.S1689S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1688	Poly-Ser.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGATGCAGGACGAGCTGGAGT	0.507													T	15690712	C	T	15690712	2	4	175	1	0	0	0	0	0	0	0	1	8177	523	19	1		1	KIAA0430	16	15690712	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08	14962849	15690712	74664041	50	12204											
ITGAX	3687	broad.mit.edu	37	16	31388543	31388543	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:31388543C>A	uc002ebt.3	+	22	2813	c.2746C>A	c.(2746-2748)Ctg>Atg	p.L916M	ITGAX_uc002ebu.1_Missense_Mutation_p.L916M	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	916					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACCTTCCAGCTGGAGCTCCC	0.537													A	31388543	C	A	31388543	3	1	175	1	0	0	0	0	1	0	0	0	7889	796	28	5	2836	5	ITGAX	16	31388543	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	15697831	31388543	58966210	51	12205											
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:7577580T>C	uc002gim.2	-	6	895	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(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)		CATGTAGTTGTAGTGGATGGT	0.572		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)			C	7577580	T	C	7577580	3	2	175	1	0	0	0	0	1	0	0	0	16378	1638	57	4	589	4	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08		7577580	73617630	52	12206											
NF1	4763	broad.mit.edu	37	17	29667528	29667528	+	Frame_Shift_Del	DEL	G	G	-			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:29667528delG	uc002hgg.3	+	46	7310	c.6927delG	c.(6925-6927)tcgfs	p.S2309fs	NF1_uc002hgh.3_Frame_Shift_Del_p.S2288fs|NF1_uc010cso.3_Frame_Shift_Del_p.S497fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2309					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S2309S(2)|p.D2308fs*11(1)|p.P2310fs*11(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCCAGGACTCGCCTCTGCACA	0.443			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29667528	G	-	29667528	7	5	175	1	0	1	0	1	0	0	0	0	10356	1074	38	0	7174	0	NF1	17	29667528	Frame_Shift_Del	DEL	G	TCGA-26-5133-01A-01D-1486-08	22089948	29667528	51527682	53	12207											
KRT31	3881	broad.mit.edu	37	17	39551111	39551111	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:39551111G>A	uc002hwn.3	-	5	1139	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	KRT31_uc010cxn.3_Silent_p.S362S	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	362	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGCAGTCCTCGCTCTCCAGCA	0.532													A	39551111	G	A	39551111	2	1	175	1	0	0	0	0	0	0	0	1	8467	1078	38	1		1	KRT31	17	39551111	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	9883583	39551111	41644099	54	12208											
MMD	23531	broad.mit.edu	37	17	53471726	53471726	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:53471726C>T	uc002iui.3	-	6	971	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.	229					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGTAGGACTTCGGTAAAGGTA	0.463													T	53471726	C	T	53471726	3	4	175	1	0	0	0	0	1	0	0	0	9643	884	31	2	34	2	MMD	17	53471726	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	13920615	53471726	27723484	55	12209											
KCNH6	81033	broad.mit.edu	37	17	61611547	61611547	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:61611547A>G	uc002jay.3	+	4	1056	c.976A>G	c.(976-978)Acc>Gcc	p.T326A	KCNH6_uc002jax.1_Missense_Mutation_p.T326A|KCNH6_uc010wpl.2_Missense_Mutation_p.T203A|KCNH6_uc010wpm.2_Missense_Mutation_p.T326A|KCNH6_uc002jaz.1_Missense_Mutation_p.T326A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	326					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTATGTCAACACCAATGATGA	0.567													G	61611547	A	G	61611547	3	3	175	1	0	0	0	0	1	0	0	0	8036	159	6	4	994	4	KCNH6	17	61611547	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	8139821	61611547	19583663	56	12210											
DNMT1	1786	broad.mit.edu	37	19	10288042	10288042	+	Silent	SNP	A	A	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:10288042A>G	uc002mng.3	-	5	626	c.446_splice	c.e5-1	p.P149_splice	DNMT1_uc010xlc.2_Splice_Site_p.A165_splice|DNMT1_uc002mnh.3_Splice_Site_p.A44_splice|DNMT1_uc010xld.2_Splice_Site_p.P149_splice|DNMT1_uc010dxb.1_Splice_Site	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	149	Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GTGAAGGTTCAGCTGTTTAAA	0.398													G	10288042	A	G	10288042	2	3	175	1	0	0	0	0	0	0	0	1	4675	202	7	4		4	DNMT1	19	10288042	Silent	SNP	A	TCGA-26-5133-01A-01D-1486-08		10288042	48840941	57	12211											
PLEKHG2	64857	broad.mit.edu	37	19	39915859	39915859	+	Silent	SNP	T	T	G			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:39915859T>G	uc010xuz.2	+	18	4411	c.4086T>G	c.(4084-4086)gcT>gcG	p.A1362A	PLEKHG2_uc010xuy.2_Intron|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.A1140A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1362					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			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCACCCTGCTCTCTTGGCCT	0.652													G	39915859	T	G	39915859	2	3	175	1	0	0	0	0	0	0	0	1	12069	1538	54	5		5	PLEKHG2	19	39915859	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08	29627817	39915859	19213124	58	12212											
NLRP13	126204	broad.mit.edu	37	19	56423467	56423467	+	Silent	SNP	G	G	A			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:56423467G>A	uc010ygg.2	-	4	1741	c.1716C>T	c.(1714-1716)caC>caT	p.H572H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	572							ATP binding			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)		CAAGCAAGACGTGTTGCAGTA	0.423													A	56423467	G	A	56423467	2	1	175	1	0	0	0	0	0	0	0	1	10475	1136	40	1		1	NLRP13	19	56423467	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	16507608	56423467	2705516	59	12213											
COL18A1	80781	broad.mit.edu	37	21	46875768	46875768	+	Silent	SNP	C	C	T			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr21:46875768C>T	uc002zhi.3	+	0	345	c.324C>T	c.(322-324)gcC>gcT	p.A108A	COL18A1_uc002zhg.3_Intron	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	108					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGAACATTGCCGGTGTCGGAG	0.642													T	46875768	C	T	46875768	2	4	175	1	0	0	0	0	0	0	0	1	3675	639	23	2		2	COL18A1	21	46875768	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08		46875768	1254127	60	12214											
CITED1	4435	broad.mit.edu	37	X	71522708	71522708	+	Silent	SNP	C	C	T	rs146201846	byFrequency	TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:71522708C>T	uc011mqc.2	-	2	288	c.90G>A	c.(88-90)acG>acA	p.T30T	CITED1_uc011mqd.2_Silent_p.T4T|CITED1_uc004eas.3_Silent_p.T4T|CITED1_uc004eat.3_Silent_p.T4T	NM_001144885	NP_004134	Q99966	CITE1_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1), transcript variant 2, mRNA.	4					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					CAGGCCTCGACGTTGTTGGCA	0.512													T	71522708	C	T	71522708	2	4	175	1	0	0	0	0	0	0	0	1	3439	523	19	1		1	CITED1	23	71522708	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08		71522708	83747852	61	12215											
CHRDL1	91851	broad.mit.edu	37	X	109922648	109922648	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:109922648G>C	uc004eou.4	-	10	1511	c.1162C>G	c.(1162-1164)Ctc>Gtc	p.L388V	CHRDL1_uc004eov.3_Missense_Mutation_p.L377V|CHRDL1_uc004eow.3_Missense_Mutation_p.L386V|CHRDL1_uc010nps.3_Missense_Mutation_p.L387V|CHRDL1_uc011mss.2_Missense_Mutation_p.L308V	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	380					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAGTGCTGGAGAATGCCTAGG	0.453													C	109922648	G	C	109922648	3	2	175	1	0	0	0	0	1	0	0	0	3373	942	33	5	222	5	CHRDL1	23	109922648	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	38399940	109922648	45347912	62	12216											
GALE	2582	broad.mit.edu	37	1	24123528	24123528	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:24123528G>A	uc009vqo.1	-	5	848	c.638C>T	c.(637-639)tCc>tTc	p.S213F	GALE_uc001bhv.1_Missense_Mutation_p.S213F|GALE_uc001bhx.1_Missense_Mutation_p.S213F|GALE_uc001bhz.1_Missense_Mutation_p.S139F	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	213					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCTTACCTGGGAGACATAAGG	0.587													A	24123528	G	A	24123528	3	1	176	1	0	0	0	0	1	0	0	0	6202	1174	41	3	432	3	GALE	1	24123528	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		24123528	225127093	1	12217											
MFSD2A	84879	broad.mit.edu	37	1	40431623	40431623	+	Silent	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:40431623T>C	uc001cev.3	+	5	871	c.690T>C	c.(688-690)aaT>aaC	p.N230N	MFSD2A_uc010ojb.1_Silent_p.N180N|MFSD2A_uc001ceu.3_Silent_p.N217N|MFSD2A_uc010ojc.2_Silent_p.N61N|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	230					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGGACCTCAATAGCTCTACAG	0.572													C	40431623	T	C	40431623	2	2	176	1	0	0	0	0	0	0	0	1	9530	1403	49	4		4	MFSD2A	1	40431623	Silent	SNP	T	TCGA-26-5134-01A-01D-1486-08	16308095	40431623	208818998	2	12218											
CYP4Z1	199974	broad.mit.edu	37	1	47583502	47583502	+	Missense_Mutation	SNP	C	C	T	rs145758676		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:47583502C>T	uc001cqu.1	+	11	1417	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	472						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AACTCTGCTCCGCTTCAAGCT	0.468													T	47583502	C	T	47583502	3	4	176	1	0	0	0	0	1	0	0	0	4194	652	23	2	1460	2	CYP4Z1	1	47583502	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	7151879	47583502	201667119	3	12219											
ROCK2	9475	broad.mit.edu	37	2	11332301	11332301	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:11332301C>T	uc002rbd.1	-	31	4585	c.4136G>A	c.(4135-4137)aGt>aAt	p.S1379N		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1379					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AAGCTGTCGACTTGGCCGTCT	0.368													T	11332301	C	T	11332301	3	4	176	1	0	0	0	0	1	0	0	0	13518	565	20	3	38	3	ROCK2	2	11332301	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		11332301	231867072	4	12220											
ITSN2	50618	broad.mit.edu	37	2	24526701	24526701	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:24526701G>A	uc002rfe.2	-	8	1082	c.824C>T	c.(823-825)tCa>tTa	p.S275L	ITSN2_uc002rff.2_Missense_Mutation_p.S275L|ITSN2_uc002rfg.3_Missense_Mutation_p.S275L|ITSN2_uc010eyd.2_Missense_Mutation_p.S300L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	275	EH 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAAGATTTGACTGAAGAAG	0.318													A	24526701	G	A	24526701	3	1	176	1	0	0	0	0	1	0	0	0	7927	1294	45	3	4448	3	ITSN2	2	24526701	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	13194400	24526701	218672672	5	12221											
EIF2AK2	5610	broad.mit.edu	37	2	37376027	37376027	+	Translation_Start_Site	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:37376027C>T	uc010ynh.2	-	1					EIF2AK2_uc010fab.2_5'Flank|EIF2AK2_uc010yng.2_5'Flank|EIF2AK2_uc010fac.3_5'UTR|EIF2AK2_uc010fad.2_5'UTR	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.						evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CCAAAATGCACGCAGATAATC	0.433													T	37376027	C	T	37376027	1	4	176	1	0	0	0	0	0	0	0	0	4997	551	19	1		1	EIF2AK2	2	37376027	Translation_Start_Site	SNP	C	TCGA-26-5134-01A-01D-1486-08	12849326	37376027	205823346	6	12222											
ZNF638	27332	broad.mit.edu	37	2	71577393	71577393	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:71577393C>A	uc002shx.3	+	1	1632	c.1309C>A	c.(1309-1311)Cat>Aat	p.H437N	ZNF638_uc010fec.2_Missense_Mutation_p.H543N|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.H437N|ZNF638_uc002shz.3_Missense_Mutation_p.H437N|ZNF638_uc002shy.3_Missense_Mutation_p.H437N|ZNF638_uc002sia.3_Missense_Mutation_p.H437N|ZNF638_uc002sib.1_Missense_Mutation_p.H437N	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	437					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGAATGTAGTCATTTGAAGGT	0.358													A	71577393	C	A	71577393	3	1	176	1	0	0	0	0	1	0	0	0	18052	826	29	5	1311	5	ZNF638	2	71577393	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	34201366	71577393	171621980	7	12223											
ADRA2B	151	broad.mit.edu	37	2	96781837	96781837	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:96781837C>T	uc021vlh.1	-	0	52	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	18					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AAGGTGATGGCCGCCGCTATG	0.662													T	96781837	C	T	96781837	3	4	176	1	0	0	0	0	1	0	0	0	338	739	26	3	1295	3	ADRA2B	2	96781837	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	25204444	96781837	146417536	8	12224											
WIPF1	7456	broad.mit.edu	37	2	175432647	175432647	+	Silent	SNP	A	A	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:175432647A>C	uc002uiz.3	-	5	1384	c.1284T>G	c.(1282-1284)ccT>ccG	p.P428P	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Silent_p.P428P|WIPF1_uc010fqt.1_Silent_p.P428P|WIPF1_uc002ujb.2_Silent_p.P428P	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	428	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGGTGGGGGAGGTGCCCCAG	0.587													C	175432647	A	C	175432647	2	2	176	1	0	0	0	0	0	0	0	1	17364	291	11	5		5	WIPF1	2	175432647	Silent	SNP	A	TCGA-26-5134-01A-01D-1486-08	78650810	175432647	67766726	9	12225											
KIF15	56992	broad.mit.edu	37	3	44882590	44882590	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:44882590C>G	uc003cnx.4	+	28	3594	c.3445C>G	c.(3445-3447)Caa>Gaa	p.Q1149E	KIF15_uc010hiq.3_Missense_Mutation_p.Q1052E|KIF15_uc010hir.3_Missense_Mutation_p.Q197E	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1149					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACCTCACTTTCAAACACATTT	0.333													G	44882590	C	G	44882590	3	3	176	1	0	0	0	0	1	0	0	0	8277	827	29	5	3559	5	KIF15	3	44882590	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		44882590	153139840	10	12226											
SETD2	29072	broad.mit.edu	37	3	47147485	47147485	+	Splice_Site	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:47147485A>G	uc003cqv.3	-	6	4892	c.4806_splice	c.e6+1	p.E1602_splice	SETD2_uc003cqs.3_Splice_Site_p.E1613_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1613	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CAAGCTGCTTACCTCATCATT	0.368			"N, F, S, Mis"		clear cell renal carcinoma								G	47147485	A	G	47147485	5	3	176	1	0	0	0	0	0	0	1	0	14131	405	14	4	2917	4	SETD2	3	47147485	Splice_Site	SNP	A	TCGA-26-5134-01A-01D-1486-08	2264895	47147485	150874945	11	12227											
UQCRC1	7384	broad.mit.edu	37	3	48641675	48641675	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:48641675T>C	uc003cub.1	-	4	662	c.617A>G	c.(616-618)gAg>gGg	p.E206G		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	206					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			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)	CCTGACATTCTCACTGGGCCC	0.552													C	48641675	T	C	48641675	3	2	176	1	0	0	0	0	1	0	0	0	17016	1551	54	4	861	4	UQCRC1	3	48641675	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08	1494190	48641675	149380755	12	12228											
MECOM	2122	broad.mit.edu	37	3	168810761	168810761	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:168810761C>T	uc011bpj.1	-	13	3552	c.3149G>A	c.(3148-3150)aGg>aAg	p.R1050K	MECOM_uc010hwk.1_Missense_Mutation_p.R876K|MECOM_uc003ffj.3_Missense_Mutation_p.R927K|MECOM_uc003ffi.3_Missense_Mutation_p.R862K|MECOM_uc011bpi.1_Missense_Mutation_p.R854K|MECOM_uc003ffn.3_Missense_Mutation_p.R862K|MECOM_uc003ffk.2_Missense_Mutation_p.R853K|MECOM_uc003ffl.2_Missense_Mutation_p.R1013K|MECOM_uc011bpk.1_Missense_Mutation_p.R862K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCCACATTCCTGGGAGATTG	0.403													T	168810761	C	T	168810761	3	4	176	1	0	0	0	0	1	0	0	0	9422	681	24	3	586	3	MECOM	3	168810761	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	120169086	168810761	29211669	13	12229											
SAMD7	344658	broad.mit.edu	37	3	169656173	169656173	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:169656173A>G	uc003fgd.3	+	8	1487	c.1220A>G	c.(1219-1221)gAt>gGt	p.D407G	SAMD7_uc003fge.3_Missense_Mutation_p.D407G|SAMD7_uc011bpo.2_Missense_Mutation_p.D308G	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	407										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAGCATTTGATCAACCAGCA	0.348													G	169656173	A	G	169656173	3	3	176	1	0	0	0	0	1	0	0	0	13824	333	12	4	1246	4	SAMD7	3	169656173	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08	845412	169656173	28366257	14	12230											
PDGFRA	5156	broad.mit.edu	37	4	55133888	55133899	+	In_Frame_Del	DEL	GGAAAAGATTCA	GGAAAAGATTCA	-			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:55133888_55133899delGGAAAAGATTCA	uc003han.4	+	6	1432_1443	c.1101_1112delGGAAAAGATTCA	c.(1099-1113)gtggaaaagattcag>gtg	p.EKIQ368del	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_In_Frame_Del_p.EKIQ262del|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	368	Ig-like C2-type 4.				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			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)	CCACTGATGTGGAAAAGATTCAGGAAATAAGG	0.448			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			-	55133899	GGAAAAGATTCA	-	55133888	7	5	176	1	0	1	0	1	0	0	0	0	11661	1335	47	0	1123	0	PDGFRA	4	55133888	In_Frame_Del	DEL	GGAAAAGATTCA	TCGA-26-5134-01A-01D-1486-08		55133888	136020388	15	12231											
ENAM	10117	broad.mit.edu	37	4	71509712	71509712	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:71509712C>A	uc011caw.1	+	8	2850	c.2569C>A	c.(2569-2571)Cca>Aca	p.P857T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	857					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCAAGTTACCCATCAGGTCA	0.448													A	71509712	C	A	71509712	3	1	176	1	0	0	0	0	1	0	0	0	5112	623	22	5	2599	5	ENAM	4	71509712	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	16375824	71509712	119644564	16	12232											
PTPN13	5783	broad.mit.edu	37	4	87728883	87728883	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:87728883G>A	uc003hpz.3	+	44	7396	c.6916G>A	c.(6916-6918)Gcc>Acc	p.A2306T	PTPN13_uc003hpy.3_Missense_Mutation_p.A2311T|PTPN13_uc003hqa.3_Missense_Mutation_p.A2287T|PTPN13_uc003hqb.3_Missense_Mutation_p.A2115T	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2306	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACAGTGATAGCCATGATGAC	0.453													A	87728883	G	A	87728883	3	1	176	1	0	0	0	0	1	0	0	0	12782	971	34	3	7105	3	PTPN13	4	87728883	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	16219171	87728883	103425393	17	12233											
ADH1A	124	broad.mit.edu	37	4	100205753	100205753	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:100205753G>T	uc003hur.2	-	4	484	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	124					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCATCCTGCAGGGTCCCCTGA	0.517													T	100205753	G	T	100205753	3	4	176	1	0	0	0	0	1	0	0	0	307	991	35	5	777	5	ADH1A	4	100205753	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	12476870	100205753	90948523	18	12234											
PRMT10	90826	broad.mit.edu	37	4	148589774	148589774	+	Missense_Mutation	SNP	C	C	A	rs147339843	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:148589774C>A	uc003ilc.3	-	5	1011	c.869G>T	c.(868-870)tGt>tTt	p.C290F	PRMT10_uc003ild.3_Missense_Mutation_p.C177F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	290						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATACTTTTCACAATTAGCACT	0.318													A	148589774	C	A	148589774	3	1	176	1	0	0	0	0	1	0	0	0	12536	478	17	5	1696	5	PRMT10	4	148589774	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	48384021	148589774	42564502	19	12235											
FGA	2243	broad.mit.edu	37	4	155508053	155508053	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:155508053C>G	uc003iod.1	-	4	586	c.528G>C	c.(526-528)aaG>aaC	p.K176N	FGA_uc003ioe.1_Missense_Mutation_p.K176N|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	176					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AAGATCGGATCTTAATATCAA	0.393													G	155508053	C	G	155508053	3	3	176	1	0	0	0	0	1	0	0	0	5830	912	32	5	2124	5	FGA	4	155508053	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	6918279	155508053	35646223	20	12236											
PCDHAC2	56141	broad.mit.edu	37	5	140215867	140215867	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr5:140215867G>A	uc003lhq.2	+	0	1899	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.T633T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	644	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCAGCACGACACGAGCCC	0.647													A	140215867	G	A	140215867	2	1	176	1	0	0	0	0	0	0	0	1	11533	1045	37	2		2	PCDHAC2	5	140215867	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08		140215867	40699393	21	12237											
TRIM15	89870	broad.mit.edu	37	6	30131441	30131441	+	Translation_Start_Site	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:30131441C>T	uc010jrx.3	+	0					TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.						mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCGGAGTGGACGGGCTGGGGA	0.622													T	30131441	C	T	30131441	1	4	176	1	0	0	0	0	0	0	0	0	16487	551	19	1		1	TRIM15	6	30131441	Translation_Start_Site	SNP	C	TCGA-26-5134-01A-01D-1486-08		30131441	140983626	22	12238											
HSPA1L	3305	broad.mit.edu	37	6	31778907	31778907	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:31778907C>A	uc003nxh.3	-	1	1026	c.843G>T	c.(841-843)caG>caT	p.Q281H	HSPA1L_uc010jte.3_Missense_Mutation_p.Q281H|HSPA1L_uc021yuz.1_Missense_Mutation_p.Q281H	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	281					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTAGGTTGGCCTGGGTGCTGG	0.522													A	31778907	C	A	31778907	3	1	176	1	0	0	0	0	1	0	0	0	7410	680	24	5	1086	5	HSPA1L	6	31778907	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	1647466	31778907	139336160	23	12239											
PKHD1	5314	broad.mit.edu	37	6	51484145	51484145	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:51484145G>C	uc003pah.1	-	66	12235	c.11959C>G	c.(11959-11961)Cct>Gct	p.P3987A		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3987					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			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)					TGCTGAGCAGGAGCACCTGGA	0.572													C	51484145	G	C	51484145	3	2	176	1	0	0	0	0	1	0	0	0	11971	1174	41	5	269	5	PKHD1	6	51484145	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	19705238	51484145	119630922	24	12240											
MTHFD1L	25902	broad.mit.edu	37	6	151281413	151281413	+	Silent	SNP	G	G	A	rs146093887	by1000genomes	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:151281413G>A	uc021zgs.1	+	17	1953	c.1809G>A	c.(1807-1809)gcG>gcA	p.A603A	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.A602A|MTHFD1L_uc021zgt.1_Silent_p.A537A|MTHFD1L_uc003qoc.3_Silent_p.A550A	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	602	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			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)		TGGTTCAGGCGCAGTTTGACA	0.612													A	151281413	G	A	151281413	2	1	176	1	0	0	0	0	0	0	0	1	9928	1074	38	1		1	MTHFD1L	6	151281413	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	99797268	151281413	19833654	25	12241											
PCLO	27445	broad.mit.edu	37	7	82785272	82785272	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:82785272G>T	uc003uhx.2	-	1	974	c.685C>A	c.(685-687)Ccg>Acg	p.P229T	PCLO_uc003uhv.2_Missense_Mutation_p.P229T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	229	Gln-rich.|Pro-rich.				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						TGCTGAAGCGGATCCCTACCA	0.463													T	82785272	G	T	82785272	3	4	176	1	0	0	0	0	1	0	0	0	11583	1174	41	5	14856	5	PCLO	7	82785272	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		82785272	76353391	26	12242											
TFPI2	7980	broad.mit.edu	37	7	93519537	93519537	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:93519537G>A	uc003umy.1	-	1	258	c.183C>T	c.(181-183)tgC>tgT	p.C61C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C61C|TFPI2_uc003una.1_Silent_p.C50C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	61	BPTI/Kunitz inhibitor 1.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.C61Y(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GGAACTGGCGGCAGCTCTGCG	0.577													A	93519537	G	A	93519537	2	1	176	1	0	0	0	0	0	0	0	1	15806	1195	42	3		3	TFPI2	7	93519537	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	10734265	93519537	65619126	27	12243											
MOGAT3	346606	broad.mit.edu	37	7	100841600	100841600	+	Silent	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:100841600C>T	uc003uyc.3	-	4	707	c.540G>A	c.(538-540)caG>caA	p.Q180Q	MOGAT3_uc010lhr.3_Silent_p.Q180Q	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	180					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGAGCTGGGGCTGGGACAGGA	0.657													T	100841600	C	T	100841600	2	4	176	1	0	0	0	0	0	0	0	1	9696	796	28	3		3	MOGAT3	7	100841600	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08	7322063	100841600	58297063	28	12244											
KCNU1	157855	broad.mit.edu	37	8	36661576	36661576	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr8:36661576C>G	uc010lvw.3	+	2	434	c.347C>G	c.(346-348)tCt>tGt	p.S116C	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	116						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGCATTGGGTCTCTTATAATC	0.358													G	36661576	C	G	36661576	3	3	176	1	0	0	0	0	1	0	0	0	8093	913	32	5	357	5	KCNU1	8	36661576	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		36661576	109702446	29	12245											
SNX16	64089	broad.mit.edu	37	8	82714627	82714627	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr8:82714627T>A	uc003ycn.3	-	6	1187	c.926A>T	c.(925-927)gAt>gTt	p.D309V	SNX16_uc003yco.3_Missense_Mutation_p.D280V|SNX16_uc011lft.2_Missense_Mutation_p.D309V	NM_152836	NP_690049	P57768	SNX16_HUMAN	Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA.	309				LDEE -> WMR (in Ref. 1; AAG25676).	cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AGATTCTTCATCCAGGACATC	0.343													A	82714627	T	A	82714627	3	1	176	1	0	0	0	0	1	0	0	0	14887	1435	50	5	116	5	SNX16	8	82714627	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08	46053051	82714627	63649395	30	12246											
TAF1L	138474	broad.mit.edu	37	9	32635178	32635178	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:32635178A>G	uc003zrg.1	-	0	490	c.400T>C	c.(400-402)Tac>Cac	p.Y134H	AX747113_uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	134					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			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)		TCCGAGTGGTAAAGGGGCTGC	0.478													G	32635178	A	G	32635178	3	3	176	1	0	0	0	0	1	0	0	0	15520	362	13	4	5084	4	TAF1L	9	32635178	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08		32635178	108578253	31	12247											
PIGO	84720	broad.mit.edu	37	9	35090223	35090223	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:35090223C>T	uc003zwd.3	-	8	3305	c.2909G>A	c.(2908-2910)cGg>cAg	p.R970Q	PIGO_uc003zwe.3_Missense_Mutation_p.R553Q|PIGO_uc003zwf.3_Missense_Mutation_p.R553Q|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_3'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	970					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGTCTCTTCCGCAGCCCTTG	0.607													T	35090223	C	T	35090223	3	4	176	1	0	0	0	0	1	0	0	0	11894	652	23	2	372	2	PIGO	9	35090223	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	2455045	35090223	106123208	32	12248											
NR4A3	8013	broad.mit.edu	37	9	102590645	102590645	+	Silent	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:102590645T>C	uc022bky.1	+	3	1122	c.354T>C	c.(352-354)caT>caC	p.H118H	NR4A3_uc004bae.3_Silent_p.H107H|NR4A3_uc004baf.1_Silent_p.H107H	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	107					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				accaccaccatcaccaGCAGC	0.627			T	EWSR1	extraskeletal myxoid chondrosarcoma								C	102590645	T	C	102590645	2	2	176	1	0	0	0	0	0	0	0	1	10634	1432	50	4		4	NR4A3	9	102590645	Silent	SNP	T	TCGA-26-5134-01A-01D-1486-08	67500422	102590645	38622786	33	12249											
ERCC6	2074	broad.mit.edu	37	10	50690803	50690803	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr10:50690803A>G	uc001jhs.4	-	9	2253	c.2099T>C	c.(2098-2100)tTg>tCg	p.L700S	ERCC6_uc010qgr.2_Missense_Mutation_p.L70S|ERCC6_uc001jhr.4_Missense_Mutation_p.L100S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	700					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAACACAGGCAACGTGCCTAA	0.483								Direct reversal of damage;Nucleotide excision repair (NER)					G	50690803	A	G	50690803	3	3	176	1	0	0	0	0	1	0	0	0	5217	131	5	4	2430	4	ERCC6	10	50690803	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08		50690803	84843944	34	12250											
NOC3L	64318	broad.mit.edu	37	10	96099659	96099659	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr10:96099659A>G	uc001kjq.1	-	16	1887	c.1799T>C	c.(1798-1800)gTt>gCt	p.V600A		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	600						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TACAATCTCAACACCTTCATT	0.433													G	96099659	A	G	96099659	3	3	176	1	0	0	0	0	1	0	0	0	10514	43	2	4	623	4	NOC3L	10	96099659	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08	45408856	96099659	39435088	35	12251											
OR4A16	81327	broad.mit.edu	37	11	55111268	55111268	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:55111268G>T	uc010rie.2	+	0	592	c.592G>T	c.(592-594)Gtt>Ttt	p.V198F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTCACTGTGGTTGCCAATGG	0.428													T	55111268	G	T	55111268	3	4	176	1	0	0	0	0	1	0	0	0	11041	1261	44	5	594	5	OR4A16	11	55111268	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		55111268	79895248	36	12252											
OR5I1	10798	broad.mit.edu	37	11	55703585	55703585	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:55703585C>A	uc010ris.2	-	0	292	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G98V(1)|p.G98G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGGGCACACCCATAATAGGAA	0.428													A	55703585	C	A	55703585	3	1	176	1	0	0	0	0	1	0	0	0	11164	594	21	5	655	5	OR5I1	11	55703585	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	592317	55703585	79302931	37	12253											
OR8K3	219473	broad.mit.edu	37	11	56085869	56085869	+	Silent	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:56085869A>G	uc010rjf.2	+	0	87	c.87A>G	c.(85-87)gcA>gcG	p.A29A		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CATTATTTGCATTGTTCCTCA	0.433													G	56085869	A	G	56085869	2	3	176	1	0	0	0	0	0	0	0	1	11244	204	8	4		4	OR8K3	11	56085869	Silent	SNP	A	TCGA-26-5134-01A-01D-1486-08	382284	56085869	78920647	38	12254											
C11orf2	738	broad.mit.edu	37	11	64876151	64876151	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:64876151C>T	uc001ocr.1	+	4	1248	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	C11orf2_uc001ocs.1_Missense_Mutation_p.A279V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	403					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						GAACGAGTGGCCCGCGAGCGC	0.761													T	64876151	C	T	64876151	3	4	176	1	0	0	0	0	1	0	0	0	1633	739	26	3	1226	3	C11orf2	11	64876151	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	8790282	64876151	70130365	39	12255											
OR8D4	338662	broad.mit.edu	37	11	123777373	123777373	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:123777373C>A	uc010saa.2	+	0	235	c.235C>A	c.(235-237)Cct>Act	p.P79T		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGTCATTACCCCTAAAATGCT	0.358													A	123777373	C	A	123777373	3	1	176	1	0	0	0	0	1	0	0	0	11233	623	22	5	237	5	OR8D4	11	123777373	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	58901222	123777373	11229143	40	12256											
VSIG2	23584	broad.mit.edu	37	11	124618351	124618351	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:124618351G>A	uc001qas.3	-	5	862	c.786C>T	c.(784-786)tgC>tgT	p.C262C	VSIG2_uc001qat.3_Silent_p.C262C	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	262						integral to plasma membrane|membrane fraction		p.F261F(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACCTGACCAGGCAGAACGCAG	0.617													A	124618351	G	A	124618351	2	1	176	1	0	0	0	0	0	0	0	1	17221	1195	42	3		3	VSIG2	11	124618351	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	840978	124618351	10388165	41	12257											
CD163L1	283316	broad.mit.edu	37	12	7527492	7527492	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:7527492C>A	uc010sge.2	-	11	3085	c.3059G>T	c.(3058-3060)tGc>tTc	p.C1020F	CD163L1_uc001qsy.3_Missense_Mutation_p.C1010F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1010						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTGCGAGGCATGGAAACAG	0.463											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7527492	C	A	7527492	3	1	176	1	0	0	0	0	1	0	0	0	2968	710	25	5	1364	5	CD163L1	12	7527492	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		7527492	126324403	42	12258											
GRIP1	23426	broad.mit.edu	37	12	66773075	66773075	+	Missense_Mutation	SNP	C	C	T	rs145115262	by1000genomes	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:66773075C>T	uc001stk.3	-	18	2691	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q	GRIP1_uc010sta.1_Missense_Mutation_p.R761Q|GRIP1_uc001stj.3_Missense_Mutation_p.R599Q|GRIP1_uc001stm.3_Missense_Mutation_p.R817Q|GRIP1_uc001stl.1_Missense_Mutation_p.R709Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	869					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			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)		GGCTGTGGACCGGTCCCAGTC	0.517													T	66773075	C	T	66773075	3	4	176	1	0	0	0	0	1	0	0	0	6787	652	23	2	804	2	GRIP1	12	66773075	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	59245583	66773075	67078820	43	12259											
LRRC43	254050	broad.mit.edu	37	12	122672375	122672375	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:122672375C>T	uc009zxm.3	+	3	675	c.650C>T	c.(649-651)aCc>aTc	p.T217I	LRRC43_uc001ubw.4_Missense_Mutation_p.T32I|LRRC43_uc009zxn.3_5'Flank|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	217										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCTACGTCACCGCTAATCAC	0.562													T	122672375	C	T	122672375	3	4	176	1	0	0	0	0	1	0	0	0	9001	507	18	3	664	3	LRRC43	12	122672375	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	55899300	122672375	11179520	44	12260											
NBEA	26960	broad.mit.edu	37	13	35685025	35685025	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr13:35685025G>C	uc021rid.1	+	12	2446	c.1912G>C	c.(1912-1914)Gga>Cga	p.G638R	NBEA_uc021ric.1_Missense_Mutation_p.G638R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	638						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACGCAGAGTAGGAACAGTATT	0.368													C	35685025	G	C	35685025	3	2	176	1	0	0	0	0	1	0	0	0	10187	1001	35	5	1962	5	NBEA	13	35685025	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		35685025	79484853	45	12261											
OR4K2	390431	broad.mit.edu	37	14	20344857	20344857	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:20344857T>C	uc001vwh.1	+	0	431	c.431T>C	c.(430-432)cTc>cCc	p.L144P		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGTTGCTCTCGTGGTGGCT	0.463													C	20344857	T	C	20344857	3	2	176	1	0	0	0	0	1	0	0	0	11072	1551	54	4	433	4	OR4K2	14	20344857	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08		20344857	87004683	46	12262											
PCNX	22990	broad.mit.edu	37	14	71540387	71540387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:71540387C>T	uc001xmo.2	+	26	5424	c.4978C>T	c.(4978-4980)Cga>Tga	p.R1660*	PCNX_uc010are.1_Nonsense_Mutation_p.R1549*|PCNX_uc010arf.1_Nonsense_Mutation_p.R448*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1660						integral to membrane		p.R1660*(2)		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)		ATTTAGCCAGCGATGGCTAGC	0.438													T	71540387	C	T	71540387	4	4	176	1	0	0	0	0	0	1	0	0	11591	760	27	1	5084	1	PCNX	14	71540387	Nonsense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	51195530	71540387	35809153	47	12263											
EML5	161436	broad.mit.edu	37	14	89168805	89168805	+	Silent	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:89168805G>A	uc021ryf.1	-	13	2472	c.2223C>T	c.(2221-2223)taC>taT	p.Y741Y	EML5_uc021ryg.1_Silent_p.Y741Y|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	741						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGTTGCCACGTAGTCTTTCA	0.368													A	89168805	G	A	89168805	2	1	176	1	0	0	0	0	0	0	0	1	5100	1140	40	1		1	EML5	14	89168805	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	17628418	89168805	18180735	48	12264											
AQR	9716	broad.mit.edu	37	15	35168164	35168164	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:35168164A>G	uc001ziv.3	-	27	3390	c.3209T>C	c.(3208-3210)aTa>aCa	p.I1070T		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1070						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAAAGTTTCTATCTCCAGAAT	0.358													G	35168164	A	G	35168164	3	3	176	1	0	0	0	0	1	0	0	0	835	449	16	4	1280	4	AQR	15	35168164	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08		35168164	67363228	49	12265			1	30		2	2	12	N	C_A	2.20305e-05
AQR	9716	broad.mit.edu	37	15	35168175	35168175	+	Silent	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:35168175C>T	uc001ziv.3	-	27	3379	c.3198G>A	c.(3196-3198)caG>caA	p.Q1066Q		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1066						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTCCAGAATCTGAGCAGCCT	0.353													T	35168175	C	T	35168175	2	4	176	1	0	0	0	0	0	0	0	1	835	912	32	3		3	AQR	15	35168175	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08	11	35168175	67363217	50	12266			1	30		2	2	12	N	C_A	2.20305e-05
NOX5	79400	broad.mit.edu	37	15	69324094	69324094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:69324094G>T	uc002ars.2	+	3	603	c.562G>T	c.(562-564)Gag>Tag	p.E188*	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.E142*|NOX5_uc002arp.2_Nonsense_Mutation_p.E170*|NOX5_uc010bid.2_Nonsense_Mutation_p.E153*|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Nonsense_Mutation_p.E160*|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	188	EF-hand 4.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CATCACCTTCGAGGAGCTCCG	0.677													T	69324094	G	T	69324094	4	4	176	1	0	0	0	0	0	1	0	0	10559	1059	37	5	609	5	NOX5	15	69324094	Nonsense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	34155919	69324094	33207298	51	12267											
PAPD5	64282	broad.mit.edu	37	16	50263117	50263117	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr16:50263117C>G	uc010vgo.2	+	12	2010	c.1975C>G	c.(1975-1977)Caa>Gaa	p.Q659E	PAPD5_uc002efz.3_Missense_Mutation_p.Q612E|PAPD5_uc010cbi.2_Intron	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	Homo sapiens PAP associated domain containing 5 (PAPD5), transcript variant 1, mRNA.	533					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGGTACAACTCAAACAAGCCA	0.433													G	50263117	C	G	50263117	3	3	176	1	0	0	0	0	1	0	0	0	11425	827	29	5	2025	5	PAPD5	16	50263117	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		50263117	40091636	52	12268											
INPP5K	51763	broad.mit.edu	37	17	1419767	1419767	+	Silent	SNP	C	C	G			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr17:1419767C>G	uc002fsr.3	-	0	416	c.27G>C	c.(25-27)ccG>ccC	p.P9P	INPP5K_uc002fss.3_5'UTR|INPP5K_uc002fsq.3_5'UTR|INPP5K_uc010cjr.3_5'UTR|INPP5K_uc010vql.2_5'UTR|INPP5K_uc010vqm.2_Silent_p.P9P|INPP5K_uc010cjs.2_Silent_p.P9P|LOC100306951_uc021tne.1_5'Flank	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	9					actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCCTGCCTTTCGGCCCGCTCA	0.756													G	1419767	C	G	1419767	2	3	176	1	0	0	0	0	0	0	0	1	7760	871	31	5		5	INPP5K	17	1419767	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08		1419767	79775443	53	12269											
PHF12	57649	broad.mit.edu	37	17	27233967	27233967	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr17:27233967T>C	uc002hdg.1	-	13	3117	c.2587A>G	c.(2587-2589)Acg>Gcg	p.T863A	PHF12_uc010wbb.1_Missense_Mutation_p.T845A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	863	FHA.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGTCCACCGTTGTCCCATGC	0.507													C	27233967	T	C	27233967	3	2	176	1	0	0	0	0	1	0	0	0	11823	1725	60	4	435	4	PHF12	17	27233967	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08	25814200	27233967	53961243	54	12270											
DSG3	1830	broad.mit.edu	37	18	29052357	29052357	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr18:29052357G>A	uc002kws.3	+	12	2117	c.2008G>A	c.(2008-2010)Gga>Aga	p.G670R	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	670					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCATCAGTGGGGAATTGAAGG	0.428													A	29052357	G	A	29052357	3	1	176	1	0	0	0	0	1	0	0	0	4778	1233	43	3	2058	3	DSG3	18	29052357	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		29052357	49024891	55	12271											
S1PR4	8698	broad.mit.edu	37	19	3179828	3179828	+	Silent	SNP	C	C	T	rs147906636	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:3179828C>T	uc002lxg.3	+	0	1093	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S		NM_003775	NP_003766	O95977	S1PR4_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.	346					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						AGGCTCACTCCGGAGCTTCCA	0.687													T	3179828	C	T	3179828	2	4	176	1	0	0	0	0	0	0	0	1	13796	639	23	2		2	S1PR4	19	3179828	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08		3179828	55949155	56	12272											
TYK2	7297	broad.mit.edu	37	19	10463654	10463654	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:10463654C>T	uc002moc.4	-	21	3526	c.3148G>A	c.(3148-3150)Gaa>Aaa	p.E1050K	TYK2_uc010dxe.3_Missense_Mutation_p.E865K	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	1050	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGTGGCCTTCGGGCACGGCC	0.652													T	10463654	C	T	10463654	3	4	176	1	0	0	0	0	1	0	0	0	16807	893	31	2	431	2	TYK2	19	10463654	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	7283826	10463654	48665329	57	12273											
CD33	945	broad.mit.edu	37	19	51728575	51728575	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:51728575A>T	uc002pwa.2	+	1	179	c.139A>T	c.(139-141)Ata>Tta	p.I47L	CD33_uc010eos.1_Missense_Mutation_p.I47L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	47	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.P46H(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)	CTTCCATCCCATACCCTACTA	0.532													T	51728575	A	T	51728575	3	4	176	1	0	0	0	0	1	0	0	0	3005	217	8	5	145	5	CD33	19	51728575	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08	41264921	51728575	7400408	58	12274											
FAM113A	64773	broad.mit.edu	37	20	2819125	2819125	+	Splice_Site	DEL	C	C	-			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:2819125delC	uc002wgz.1	-	6	1092	c.595_splice	c.e6-1	p.L199_splice	FAM113A_uc010zqa.1_Splice_Site_p.L46_splice|FAM113A_uc002whc.1_Splice_Site_p.L148_splice|VPS16_uc002whe.3_5'Flank|VPS16_uc002whf.3_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	199							hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						GGGGCTGGAGCTAAGTGAGAA	0.572													-	2819125	C	-	2819125	8	5	176	1	0	1	0	1	0	0	1	0	5401	811	28	0	782	0	FAM113A	20	2819125	Splice_Site	DEL	C	TCGA-26-5134-01A-01D-1486-08		2819125	60206395	59	12275											
ISM1	140862	broad.mit.edu	37	20	13260546	13260546	+	Splice_Site	SNP	G	G	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:13260546G>T	uc010gce.1	+	3	649	c.643_splice	c.e3+1	p.D215_splice	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	215						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCAGAATATGGTGAGTTTACC	0.498													T	13260546	G	T	13260546	5	4	176	1	0	0	0	0	0	0	1	0	7860	1275	44	5	654	5	ISM1	20	13260546	Splice_Site	SNP	G	TCGA-26-5134-01A-01D-1486-08	10441421	13260546	49764974	60	12276											
CSTF1	1477	broad.mit.edu	37	20	54974411	54974411	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:54974411C>T	uc002xxl.1	+	4	1234	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	CSTF1_uc002xxm.1_Missense_Mutation_p.T345M|CSTF1_uc002xxn.1_Missense_Mutation_p.T345M	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	345					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GTCAGATACACGGGTATGTGA	0.373													T	54974411	C	T	54974411	3	4	176	1	0	0	0	0	1	0	0	0	3983	536	19	1	1048	1	CSTF1	20	54974411	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	41713865	54974411	8051109	61	12277											
CXADR	1525	broad.mit.edu	37	21	18933791	18933791	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr21:18933791T>C	uc002yki.3	+	5	1054	c.830T>C	c.(829-831)aTc>aCc	p.I277T	CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Missense_Mutation_p.I236T|CXADR_uc002ykj.2_Missense_Mutation_p.I277T	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	277					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CATCACGATATCAGGTAATTA	0.363													C	18933791	T	C	18933791	3	2	176	1	0	0	0	0	1	0	0	0	4076	1435	50	4	852	4	CXADR	21	18933791	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08		18933791	29196104	62	12278											
HCRTR1	3061	broad.mit.edu	37	1	32084853	32084853	+	Silent	SNP	G	G	A	rs142288232		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:32084853G>A	uc009vtx.2	+	2	445	c.60G>A	c.(58-60)ccG>ccA	p.P20P	HCRTR1_uc001btc.4_5'UTR|HCRTR1_uc001btd.2_Silent_p.P20P|HCRTR1_uc010ogl.2_Silent_p.P20P	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	20					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCAGAGAGCCGTCCCCTGTGC	0.607													A	32084853	G	A	32084853	2	1	177	1	0	0	0	0	0	0	0	1	7001	1132	40	1		1	HCRTR1	1	32084853	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		32084853	217165768	1	12279											
MSH4	4438	broad.mit.edu	37	1	76269590	76269590	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:76269590G>A	uc001dhd.2	+	1	534	c.419G>A	c.(418-420)gGa>gAa	p.G140E		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	140					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCACAAGTGGGATATTCAGGT	0.313								Mismatch excision repair (MMR)					A	76269590	G	A	76269590	3	1	177	1	0	0	0	0	1	0	0	0	9872	1174	41	3	425	3	MSH4	1	76269590	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	44184737	76269590	172981031	2	12280											
KCNA10	3744	broad.mit.edu	37	1	111061339	111061339	+	Missense_Mutation	SNP	T	T	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:111061339T>A	uc001dzt.1	-	0	459	c.71A>T	c.(70-72)gAa>gTa	p.E24V		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	24						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCTGGCTCTTCTTGGATTTC	0.522													A	111061339	T	A	111061339	3	1	177	1	0	0	0	0	1	0	0	0	8002	1783	62	5	1468	5	KCNA10	1	111061339	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08	34791749	111061339	138189282	3	12281											
TRIM33	51592	broad.mit.edu	37	1	114969900	114969900	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:114969900C>T	uc001eew.3	-	7	1403	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	TRIM33_uc010owr.2_Missense_Mutation_p.R48H|TRIM33_uc010ows.2_Missense_Mutation_p.R48H|TRIM33_uc001eex.3_Missense_Mutation_p.R440H	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	440					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAATATGACGCAACTGGAA	0.353			T	RET	papillary thyroid								T	114969900	C	T	114969900	3	4	177	1	0	0	0	0	1	0	0	0	16504	536	19	1	2116	1	TRIM33	1	114969900	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	3908561	114969900	134280721	4	12282											
CRTC2	200186	broad.mit.edu	37	1	153927550	153927550	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:153927550G>A	uc021pab.1	-	1	405	c.246C>T	c.(244-246)gcC>gcT	p.A82A	CRTC2_uc001fde.4_5'Flank|CRTC2_uc001fdf.4_5'Flank	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	82					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)			CCTGGAACTCGGCCAGGCCAG	0.547													A	153927550	G	A	153927550	2	1	177	1	0	0	0	0	0	0	0	1	3900	1103	39	2		2	CRTC2	1	153927550	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	38957650	153927550	95323071	5	12283											
GON4L	54856	broad.mit.edu	37	1	155791284	155791284	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:155791284G>A	uc001flz.2	-	4	1041	c.944C>T	c.(943-945)aCg>aTg	p.T315M	GON4L_uc001fly.1_Missense_Mutation_p.T315M|GON4L_uc009wrh.1_Missense_Mutation_p.T315M|GON4L_uc001fma.1_Missense_Mutation_p.T315M|GON4L_uc001fmc.3_Missense_Mutation_p.T315M|GON4L_uc001fmd.4_Missense_Mutation_p.T315M|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.T143M|GON4L_uc001fmf.3_Missense_Mutation_p.T9M	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	315					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATATCTTCCGTCTCACTGAT	0.398													A	155791284	G	A	155791284	3	1	177	1	0	0	0	0	1	0	0	0	6572	1145	40	1	6007	1	GON4L	1	155791284	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	1863734	155791284	93459337	6	12284											
SPTA1	6708	broad.mit.edu	37	1	158609712	158609712	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:158609712C>T	uc001fst.1	-	33	5022	c.4823G>A	c.(4822-4824)cGt>cAt	p.R1608H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1608					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1608C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCTGTTGACGACTGGCCTC	0.463													T	158609712	C	T	158609712	3	4	177	1	0	0	0	0	1	0	0	0	15115	536	19	1	2512	1	SPTA1	1	158609712	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	2818428	158609712	90640909	7	12285											
DUSP27	92235	broad.mit.edu	37	1	167096396	167096396	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:167096396G>A	uc001geb.1	+	4	2044	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	676					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGACACGACGTCAGTACTGA	0.637													A	167096396	G	A	167096396	2	1	177	1	0	0	0	0	0	0	0	1	4824	1132	40	1		1	DUSP27	1	167096396	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	8486684	167096396	82154225	8	12286											
C4BPB	725	broad.mit.edu	37	1	207263727	207263727	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:207263727G>T	uc009xcd.3	+	1	423	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	C4BPB_uc001hfi.3_Missense_Mutation_p.G44W|C4BPB_uc001hfj.3_Missense_Mutation_p.G45W|C4BPB_uc001hfl.3_Missense_Mutation_p.G45W|C4BPB_uc001hfk.3_Missense_Mutation_p.G44W|C4BPB_uc001hfm.3_Missense_Mutation_p.G45W|C4BPB_uc010pse.1_Missense_Mutation_p.G35W	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	45	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						ACAGATTCTGGGGACTTACGT	0.473													T	207263727	G	T	207263727	3	4	177	1	0	0	0	0	1	0	0	0	2250	1232	43	5	139	5	C4BPB	1	207263727	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	40167331	207263727	41986894	9	12287											
OR2L13	284521	broad.mit.edu	37	1	248263039	248263039	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:248263039G>A	uc001ids.3	+	2	699	c.362G>A	c.(361-363)cGt>cAt	p.R121H	OR2L13_uc021pmc.1_Missense_Mutation_p.R121H	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.R121H(3)|p.R121S(1)|p.R121C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			GCCTACGACCGTTATTTGGCC	0.498													A	248263039	G	A	248263039	3	1	177	1	0	0	0	0	1	0	0	0	11006	1145	40	1	364	1	OR2L13	1	248263039	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	40999312	248263039	987582	10	12288											
C2orf70	339778	broad.mit.edu	37	2	26798883	26798883	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:26798883C>T	uc010eyn.3	+	1	188	c.188C>T	c.(187-189)cCc>cTc	p.P63L		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.	63										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						AGCCACACTCCCTTCAGCCAA	0.637													T	26798883	C	T	26798883	3	4	177	1	0	0	0	0	1	0	0	0	2190	623	22	3	194	3	C2orf70	2	26798883	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08		26798883	216400490	11	12289											
VAMP5	10791	broad.mit.edu	37	2	85818867	85818867	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:85818867G>A	uc002spu.1	+	1	106	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_006634	NP_006625	O95183	VAMP5_HUMAN	Homo sapiens vesicle-associated membrane protein 5 (myobrevin) (VAMP5), mRNA.	8	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						GAGTTGGAGCGGTGCCAGCAG	0.602													A	85818867	G	A	85818867	3	1	177	1	0	0	0	0	1	0	0	0	17113	1116	39	2	29	2	VAMP5	2	85818867	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	59019984	85818867	157380506	12	12290											
SEMA4C	54910	broad.mit.edu	37	2	97533539	97533539	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:97533539G>A	uc002sxg.4	-						SEMA4C_uc002sxh.4_Missense_Mutation_p.P29S	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.						muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTCTTACGCGGCACAAGGTTC	0.642													A	97533539	G	A	97533539	3	1	177	1	0	0	0	0	1	0	0	0	14033	1203	42	3	2472	3	SEMA4C	2	97533539	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	11714672	97533539	145665834	13	12291											
FYCO1	79443	broad.mit.edu	37	3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	rs140583635		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:45996750G>A	uc011bal.1	-	12	4047	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_uc003cpb.4_Missense_Mutation_p.A1312V	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	1312					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498													A	45996750	G	A	45996750	3	1	177	1	0	0	0	0	1	0	0	0	6125	1087	38	1	521	1	FYCO1	3	45996750	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		45996750	152025680	14	12292											
PFKFB4	5210	broad.mit.edu	37	3	48563038	48563038	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:48563038C>T	uc003ctv.3	-	9	1069	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	PFKFB4_uc003ctx.3_Missense_Mutation_p.R308Q|PFKFB4_uc010hkb.3_Missense_Mutation_p.R344Q|PFKFB4_uc003ctw.3_Missense_Mutation_p.R160Q|PFKFB4_uc010hkc.3_Intron|PFKFB4_uc011bbm.2_Missense_Mutation_p.R340Q|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	351	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTCCTGGTCCCGCAGGGCGAA	0.562													T	48563038	C	T	48563038	3	4	177	1	0	0	0	0	1	0	0	0	11763	652	23	2	377	2	PFKFB4	3	48563038	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	2566288	48563038	149459392	15	12293											
NISCH	11188	broad.mit.edu	37	3	52521957	52521957	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:52521957G>A	uc003ded.4	+	15	2583	c.2449G>A	c.(2449-2451)Gcc>Acc	p.A817T	NISCH_uc003dee.4_Missense_Mutation_p.A306T|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	817	Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCAGCACATGGCCATGCTGTG	0.622													A	52521957	G	A	52521957	3	1	177	1	0	0	0	0	1	0	0	0	10432	1203	42	3	2511	3	NISCH	3	52521957	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	3958919	52521957	145500473	16	12294											
ADCY5	111	broad.mit.edu	37	3	123046533	123046533	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:123046533C>T	uc003egh.2	-	6	1879	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	ADCY5_uc021xdd.1_Missense_Mutation_p.E277K|ADCY5_uc003egg.2_Missense_Mutation_p.E260K|ADCY5_uc003egi.1_Missense_Mutation_p.E186K	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	627					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.E627K(2)|p.G626G(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCGTTGCGCTCGCCCCCACAG	0.642													T	123046533	C	T	123046533	3	4	177	1	0	0	0	0	1	0	0	0	297	893	31	2	1966	2	ADCY5	3	123046533	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	70524576	123046533	74975897	17	12295											
RBP2	5948	broad.mit.edu	37	3	139195249	139195249	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:139195249T>C	uc003eth.3	-	0	104	c.53A>G	c.(52-54)gAg>gGg	p.E18G		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	18					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CATGTAGCCCTCAAAGTTTTC	0.562													C	139195249	T	C	139195249	3	2	177	1	0	0	0	0	1	0	0	0	13156	1551	54	4	367	4	RBP2	3	139195249	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08	16148716	139195249	58827181	18	12296											
PSMD2	5708	broad.mit.edu	37	3	184021749	184021749	+	Silent	SNP	T	T	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:184021749T>C	uc003fnn.1	+	10	1371	c.1338T>C	c.(1336-1338)ctT>ctC	p.L446L	PSMD2_uc011brj.1_Silent_p.L287L|PSMD2_uc011brk.1_Silent_p.L316L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	446					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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GAGCTCTTCTTGCCTGTGGCA	0.512													C	184021749	T	C	184021749	2	2	177	1	0	0	0	0	0	0	0	1	12698	1799	63	4		4	PSMD2	3	184021749	Silent	SNP	T	TCGA-26-5135-01A-01D-1486-08	44826500	184021749	14000681	19	12297											
LRRC15	131578	broad.mit.edu	37	3	194080518	194080518	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:194080518G>A	uc003ftt.3	-	2	1398	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	LRRC15_uc003ftu.3_Missense_Mutation_p.R419W|LRRC15_uc021xiy.1_Missense_Mutation_p.R419W	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	419	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCATACAGCCGCAGCTCACAC	0.577													A	194080518	G	A	194080518	3	1	177	1	0	0	0	0	1	0	0	0	8970	1086	38	1	494	1	LRRC15	3	194080518	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	10058769	194080518	3941912	20	12298											
ADD1	118	broad.mit.edu	37	4	2930135	2930135	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:2930135G>A	uc003gfq.3	+	14	2380	c.2192G>A	c.(2191-2193)gGg>gAg	p.G731E	ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_Missense_Mutation_p.G700E|ADD1_uc003gfs.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	700	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCGAGGAGGGGGCCGCCGCG	0.662													A	2930135	G	A	2930135	3	1	177	1	0	0	0	0	1	0	0	0	304	1232	43	3	2284	3	ADD1	4	2930135	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		2930135	188224141	21	12299											
RXFP1	59350	broad.mit.edu	37	4	159538309	159538309	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:159538309G>A	uc003ipz.3	+	8	970	c.707G>A	c.(706-708)cGt>cAt	p.R236H	RXFP1_uc010iqj.2_Missense_Mutation_p.R65H|RXFP1_uc010iqk.3_Missense_Mutation_p.R104H|RXFP1_uc011cja.2_Missense_Mutation_p.R155H|RXFP1_uc010iqo.3_Missense_Mutation_p.R236H|RXFP1_uc011cjb.2_Missense_Mutation_p.R182H|RXFP1_uc011cjc.2_Missense_Mutation_p.R155H|RXFP1_uc011cjd.2_Missense_Mutation_p.R155H|RXFP1_uc010iql.3_Missense_Mutation_p.R104H|RXFP1_uc011cje.2_Missense_Mutation_p.R263H|RXFP1_uc010iqm.3_Missense_Mutation_p.R203H|RXFP1_uc011cjf.2_Missense_Mutation_p.R106H|RXFP1_uc010iqn.3_Missense_Mutation_p.R182H	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	236						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTCCTCACCCGTTTACCTGAT	0.363													A	159538309	G	A	159538309	3	1	177	1	0	0	0	0	1	0	0	0	13759	1145	40	1	741	1	RXFP1	4	159538309	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	156608174	159538309	31615967	22	12300											
ODZ3	55714	broad.mit.edu	37	4	183713542	183713542	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:183713542G>A	uc003ivd.1	+	24	5792	c.5717G>A	c.(5716-5718)cGa>cAa	p.R1906Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1906					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGACCATCCGATCCATTGGC	0.542													A	183713542	G	A	183713542	3	1	177	1	0	0	0	0	1	0	0	0	10836	1058	37	2	5815	2	ODZ3	4	183713542	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	24175233	183713542	7440734	23	12301											
SLC6A19	340024	broad.mit.edu	37	5	1216784	1216784	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:1216784C>T	uc003jbw.4	+	6	1055	c.999C>T	c.(997-999)taC>taT	p.Y333Y		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	333					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			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)			CACAGCGCTACGACGACTGCT	0.617													T	1216784	C	T	1216784	2	4	177	1	0	0	0	0	0	0	0	1	14682	547	19	1		1	SLC6A19	5	1216784	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		1216784	179698476	24	12302											
UGT3A1	133688	broad.mit.edu	37	5	35955903	35955903	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:35955903C>T	uc003jjv.2	-	5	1332	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R380H|UGT3A1_uc011cor.2_Missense_Mutation_p.R346H	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	380						integral to membrane	glucuronosyltransferase activity	p.R380C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACACCATGACGGATGGCCTC	0.493													T	35955903	C	T	35955903	3	4	177	1	0	0	0	0	1	0	0	0	16960	536	19	1	440	1	UGT3A1	5	35955903	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	34739119	35955903	144959357	25	12303											
HCN1	348980	broad.mit.edu	37	5	45262136	45262136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:45262136G>A	uc003jok.3	-	7	2585	c.2560C>T	c.(2560-2562)Cga>Tga	p.R854*		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	854						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGACTCCTCGGTTCGGGGGG	0.632													A	45262136	G	A	45262136	4	1	177	1	0	0	0	0	0	1	0	0	6996	1124	39	2	116	2	HCN1	5	45262136	Nonsense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	9306233	45262136	135653124	26	12304											
HCN1	348980	broad.mit.edu	37	5	45353296	45353296	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:45353296C>T	uc003jok.3	-	4	1308	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	428						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R428H(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTTCTGACGCATATCAGC	0.338													T	45353296	C	T	45353296	3	4	177	1	0	0	0	0	1	0	0	0	6996	536	19	1	1405	1	HCN1	5	45353296	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	91160	45353296	135561964	27	12305											
PTCD2	79810	broad.mit.edu	37	5	71634538	71634538	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:71634538C>T	uc003kcb.3	+	6	739	c.729C>T	c.(727-729)ttC>ttT	p.F243F	PTCD2_uc011csf.1_Silent_p.F53F|PTCD2_uc003kcc.3_Silent_p.F91F|PTCD2_uc011csg.2_Silent_p.F71F|PTCD2_uc011csh.2_Silent_p.F134F|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	243										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CATCCTGTTTCGCTGTGGCAT	0.423													T	71634538	C	T	71634538	2	4	177	1	0	0	0	0	0	0	0	1	12728	883	31	2		2	PTCD2	5	71634538	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	26281242	71634538	109280722	28	12306											
FCHO2	115548	broad.mit.edu	37	5	72370577	72370577	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:72370577C>T	uc003kcl.3	+	19	1704	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	FCHO2_uc011csl.2_Missense_Mutation_p.R497W|FCHO2_uc010izb.3_5'UTR|FCHO2_uc011csn.2_5'UTR	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	530								p.R530W(4)|p.R530R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGGTGTGTCACGGGGTCCCAG	0.403													T	72370577	C	T	72370577	3	4	177	1	0	0	0	0	1	0	0	0	5788	527	19	1	1666	1	FCHO2	5	72370577	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	736039	72370577	108544683	29	12307											
ARRDC3	57561	broad.mit.edu	37	5	90672545	90672545	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:90672545G>A	uc003kjz.2	-	2	643	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	135					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		ACCCAATAGCGCACACTGCCA	0.398													A	90672545	G	A	90672545	3	1	177	1	0	0	0	0	1	0	0	0	984	1087	38	1	865	1	ARRDC3	5	90672545	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	18301968	90672545	90242715	30	12308											
SLIT3	6586	broad.mit.edu	37	5	168112721	168112721	+	Missense_Mutation	SNP	C	C	T	rs143177032		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:168112721C>T	uc010jjg.3	-	30	3967	c.3547G>A	c.(3547-3549)Gtc>Atc	p.V1183I	SLIT3_uc003mab.3_Missense_Mutation_p.V1176I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1176	Laminin G-like.				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			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)			TGGGGTCGGACCTTGGCGGAG	0.607													T	168112721	C	T	168112721	3	4	177	1	0	0	0	0	1	0	0	0	14741	507	18	3	1069	3	SLIT3	5	168112721	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	77440176	168112721	12802539	31	12309											
OR12D2	26529	broad.mit.edu	37	6	29364964	29364964	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:29364964G>A	uc003nmf.4	+	0	549	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATGACTTCTCGCTTGAACTTC	0.468													A	29364964	G	A	29364964	3	1	177	1	0	0	0	0	1	0	0	0	10931	1087	38	1	490	1	OR12D2	6	29364964	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		29364964	141750103	32	12310											
HLA-G	3135	broad.mit.edu	37	6	29797340	29797340	+	Silent	SNP	G	G	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:29797340G>C	uc003nnw.2	+	4	943	c.765G>C	c.(763-765)gtG>gtC	p.V255V	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.V227V|HLA-G_uc003raj.3_Silent_p.V260V|HLA-G_uc003nnz.3_Silent_p.V163V|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	255	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|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			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGGAGCTCGTGGAGACCAGGC	0.632													C	29797340	G	C	29797340	2	2	177	1	0	0	0	0	0	0	0	1	7212	1335	47	5		5	HLA-G	6	29797340	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	432376	29797340	141317727	33	12311											
SKIV2L	6499	broad.mit.edu	37	6	31936703	31936703	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:31936703G>A	uc003nyn.1	+	25	3625	c.3236G>A	c.(3235-3237)cGg>cAg	p.R1079Q	SKIV2L_uc011dou.1_Missense_Mutation_p.R921Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R886Q|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1079						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGGCAGGGCGGGTGGCTTGT	0.592													A	31936703	G	A	31936703	3	1	177	1	0	0	0	0	1	0	0	0	14359	1116	39	2	3338	2	SKIV2L	6	31936703	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	2139363	31936703	139178364	34	12312											
HMGCLL1	54511	broad.mit.edu	37	6	55360237	55360237	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:55360237T>C	uc003pcn.3	-	7	1024	c.865A>G	c.(865-867)Aat>Gat	p.N289D	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.N259D|HMGCLL1_uc010jzx.3_Missense_Mutation_p.N160D|HMGCLL1_uc011dxc.2_Missense_Mutation_p.N227D|HMGCLL1_uc011dxd.2_Missense_Mutation_p.N156D	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	289							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTAAGGATATTTGCTAAGGCT	0.398													C	55360237	T	C	55360237	3	2	177	1	0	0	0	0	1	0	0	0	7230	1841	64	4	259	4	HMGCLL1	6	55360237	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08	23423534	55360237	115754830	35	12313											
TIAM2	26230	broad.mit.edu	37	6	155504465	155504465	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:155504465C>G	uc003qqb.3	+	15	4168	c.2895C>G	c.(2893-2895)agC>agG	p.S965R	TIAM2_uc003qqe.3_Missense_Mutation_p.S965R|TIAM2_uc010kjj.3_Missense_Mutation_p.S498R|TIAM2_uc003qqf.3_Missense_Mutation_p.S341R|TIAM2_uc011efl.1_Missense_Mutation_p.S301R|TIAM2_uc003qqg.3_Missense_Mutation_p.S277R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	965	PDZ.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGAGAAGAGCGTCGGACTCA	0.527													G	155504465	C	G	155504465	3	3	177	1	0	0	0	0	1	0	0	0	15888	767	27	5	2937	5	TIAM2	6	155504465	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	100144228	155504465	15610602	36	12314											
PIK3CG	5294	broad.mit.edu	37	7	106508579	106508579	+	Silent	SNP	C	C	T	rs145944814		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:106508579C>T	uc003vdv.4	+	1	658	c.573C>T	c.(571-573)cgC>cgT	p.R191R	PIK3CG_uc003vdu.3_Silent_p.R191R|PIK3CG_uc003vdw.3_Silent_p.R191R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	191					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.R191S(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						TGGCCAGCCGCGACCCCAAGC	0.612													T	106508579	C	T	106508579	2	4	177	1	0	0	0	0	0	0	0	1	11916	755	27	1		1	PIK3CG	7	106508579	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		106508579	52630084	37	12315											
CTTNBP2	83992	broad.mit.edu	37	7	117368153	117368153	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:117368153C>A	uc003vjf.3	-	16	4137	c.4045G>T	c.(4045-4047)Gtg>Ttg	p.V1349L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1349										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCACTGTCACTTGGGCATGC	0.493													A	117368153	C	A	117368153	3	1	177	1	0	0	0	0	1	0	0	0	4045	565	20	5	974	5	CTTNBP2	7	117368153	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	10859574	117368153	41770510	38	12316											
RNF133	168433	broad.mit.edu	37	7	122338662	122338662	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:122338662A>C	uc003vkj.1	-	0	547	c.311T>G	c.(310-312)cTt>cGt	p.L104R	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	104	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCGTTCAATAAGTGCAAGCCA	0.458													C	122338662	A	C	122338662	3	2	177	1	0	0	0	0	1	0	0	0	13439	72	3	5	823	5	RNF133	7	122338662	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08	4970509	122338662	36800001	39	12317											
GCC1	79571	broad.mit.edu	37	7	127222596	127222596	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:127222596G>A	uc003vma.3	-	1	2218	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	600						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCAGTTCCAAGTCCTTCTCGG	0.627													A	127222596	G	A	127222596	2	1	177	1	0	0	0	0	0	0	0	1	6285	1020	36	3		3	GCC1	7	127222596	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	4883934	127222596	31916067	40	12318											
KEL	3792	broad.mit.edu	37	7	142643377	142643377	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:142643377C>T	uc003wcb.3	-	10	1441	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	411					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)					GTCTCCTCCACGCACTTCATC	0.567													T	142643377	C	T	142643377	3	4	177	1	0	0	0	0	1	0	0	0	8142	536	19	1	1003	1	KEL	7	142643377	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	15420781	142643377	16495286	41	12319											
ADAM7	8756	broad.mit.edu	37	8	24324411	24324411	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:24324411G>A	uc003xeb.3	+	5	602	c.489G>A	c.(487-489)ccG>ccA	p.P163P	ADAM7_uc003xea.1_Silent_p.P163P	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	163					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.V162A(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAGGGTGCCGTATGGTGCCA	0.388													A	24324411	G	A	24324411	2	1	177	1	0	0	0	0	0	0	0	1	251	1132	40	1		1	ADAM7	8	24324411	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		24324411	122039611	42	12320											
SLCO5A1	81796	broad.mit.edu	37	8	70667740	70667740	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:70667740C>T	uc003xyl.3	-	3	1884	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	SLCO5A1_uc010lzb.3_Missense_Mutation_p.D393N|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.D393N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D393N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	393						integral to membrane|plasma membrane	transporter activity	p.D393N(2)		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)			TTCAGAACATCGTCATCACTA	0.363													T	70667740	C	T	70667740	3	4	177	1	0	0	0	0	1	0	0	0	14731	884	31	2	1397	2	SLCO5A1	8	70667740	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	46343329	70667740	75696282	43	12321											
MTSS1	9788	broad.mit.edu	37	8	125568545	125568545	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:125568545G>A	uc003yrl.2	-	12	1878	c.1344C>T	c.(1342-1344)acC>acT	p.T448T	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.T218T|MTSS1_uc011lio.1_Silent_p.T334T|MTSS1_uc003yri.2_Silent_p.T162T|MTSS1_uc003yrj.2_Silent_p.T419T|MTSS1_uc003yrk.2_Silent_p.T444T	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	444					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCCGCTGGCGGTAGTGGGTC	0.627													A	125568545	G	A	125568545	2	1	177	1	0	0	0	0	0	0	0	1	9962	1103	39	2		2	MTSS1	8	125568545	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	54900805	125568545	20795477	44	12322											
CEL	1056	broad.mit.edu	37	9	135946656	135946656	+	Silent	SNP	G	G	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr9:135946656G>C	uc010naa.1	+	10	1792	c.1776G>C	c.(1774-1776)ggG>ggC	p.G592G		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	589	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GTGACTCCGGGGCCCCCCCCG	0.811													C	135946656	G	C	135946656	2	2	177	1	0	0	0	0	0	0	0	1	3209	1219	43	5		5	CEL	9	135946656	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		135946656	5266775	45	12323											
RPL7A	6130	broad.mit.edu	37	9	136217156	136217156	+	Silent	SNP	C	C	T	rs142456845	by1000genomes	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr9:136217156C>T	uc004cde.1	+	4	507	c.477C>T	c.(475-477)caC>caT	p.H159H	MED22_uc004cdc.3_5'Flank|MED22_uc004cdd.3_5'Flank|SNORD36A_uc010naj.3_5'Flank|RPL7A_uc022boy.1_5'Flank|SNORD36C_uc010nak.3_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	Homo sapiens ribosomal protein L7a (RPL7A), mRNA.	159					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGATTGCACACGACGTGGATC	0.522													T	136217156	C	T	136217156	2	4	177	1	0	0	0	0	0	0	0	1	13600	535	19	1		1	RPL7A	9	136217156	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	270500	136217156	4996275	46	12324											
SVIL	6840	broad.mit.edu	37	10	29751331	29751331	+	Splice_Site	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr10:29751331C>T	uc001iut.1	-	36	7031	c.6278_splice	c.e36-1	p.G2093_splice	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Splice_Site_p.G1007_splice|SVIL_uc001iuu.1_Splice_Site_p.G1667_splice	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	2093					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGATTTTTTCCTGTAGTTACA	0.468													T	29751331	C	T	29751331	5	4	177	1	0	0	0	0	0	0	1	0	15418	695	24	3	379	3	SVIL	10	29751331	Splice_Site	SNP	C	TCGA-26-5135-01A-01D-1486-08		29751331	105783416	47	12325											
MUC5B	727897	broad.mit.edu	37	11	1250506	1250506	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr11:1250506C>T	uc001lta.3	+	8	1142	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Silent_p.D361D	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	361	TIL 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGTGTGGACGGCTGCTTCT	0.682													T	1250506	C	T	1250506	2	4	177	1	0	0	0	0	0	0	0	1	9979	535	19	1		1	MUC5B	11	1250506	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		1250506	133756010	48	12326											
GAPDH	2597	broad.mit.edu	37	12	6647098	6647098	+	Missense_Mutation	SNP	T	T	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:6647098T>G	uc001qop.1	+	7	976	c.874T>G	c.(874-876)Tcc>Gcc	p.S292A		NM_002046	NP_002037	P04406	G3P_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), mRNA.	292					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CGACACCCACTCCTCCACCTT	0.582											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	6647098	T	G	6647098	3	3	177	1	0	0	0	0	1	0	0	0	6236	1551	54	5	900	5	GAPDH	12	6647098	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08		6647098	127204797	49	12327											
ATF7IP	55729	broad.mit.edu	37	12	14650695	14650695	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:14650695G>A	uc001rbw.3	+	14	3659	c.3501G>A	c.(3499-3501)aaG>aaA	p.K1167K	ATF7IP_uc001rbx.3_Silent_p.K1166K|ATF7IP_uc001rby.4_Silent_p.K1167K|ATF7IP_uc001rca.3_Silent_p.K1167K	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1167	Fibronectin type-III.|Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CACACTTGAAGTTAGCACGCG	0.547													A	14650695	G	A	14650695	2	1	177	1	0	0	0	0	0	0	0	1	1087	1020	36	3		3	ATF7IP	12	14650695	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	8003597	14650695	119201200	50	12328											
PDE3A	5139	broad.mit.edu	37	12	20769164	20769164	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:20769164C>T	uc001reh.2	+	4	1310	c.1270_splice	c.e4-1	p.R424_splice	PDE3A_uc021qwa.1_Splice_Site_p.R102_splice	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	424					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			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)	TCTTTCCTAGCGCCTGAGAAG	0.428													T	20769164	C	T	20769164	3	4	177	1	0	0	0	0	1	0	0	0	11637	782	27	1	1284	1	PDE3A	12	20769164	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	6118469	20769164	113082731	51	12329											
SOAT2	8435	broad.mit.edu	37	12	53512677	53512677	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:53512677G>A	uc001sbv.3	+	8	955	c.867G>A	c.(865-867)acG>acA	p.T289T	SOAT2_uc009zms.3_Intron	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	289					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	p.T289T(2)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GCTGCAGGACGCCCTATGTCA	0.532													A	53512677	G	A	53512677	2	1	177	1	0	0	0	0	0	0	0	1	14911	1074	38	1		1	SOAT2	12	53512677	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	32743513	53512677	80339218	52	12330											
EFNB2	1948	broad.mit.edu	37	13	107187289	107187289	+	Silent	SNP	C	C	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr13:107187289C>A	uc001vqi.3	-	0	100	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	8					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AGTACTTCCACACGGAGTCCC	0.542													A	107187289	C	A	107187289	2	1	177	1	0	0	0	0	0	0	0	1	4956	465	17	5		5	EFNB2	13	107187289	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		107187289	7982589	53	12331											
CTSG	1511	broad.mit.edu	37	14	25043934	25043934	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:25043934G>T	uc001wpq.3	-	2	323	c.286C>A	c.(286-288)Cgc>Agc	p.R96S		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	96	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.R96H(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGAGGGTGGCGGATGGCTCTG	0.532													T	25043934	G	T	25043934	3	4	177	1	0	0	0	0	1	0	0	0	4035	1116	39	5	493	5	CTSG	14	25043934	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		25043934	82305606	54	12332											
LRFN5	145581	broad.mit.edu	37	14	42356801	42356801	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:42356801G>T	uc001wvm.3	+	2	2171	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	LRFN5_uc010ana.3_Missense_Mutation_p.G325W	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	325	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTCCTGAAGGGAAGCTTAT	0.453										HNSCC(30;0.082)			T	42356801	G	T	42356801	3	4	177	1	0	0	0	0	1	0	0	0	8941	1000	35	5	975	5	LRFN5	14	42356801	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	17312867	42356801	64992739	55	12333											
FOXN3	1112	broad.mit.edu	37	14	89647054	89647054	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:89647054G>A	uc001xxo.4	-	5	1045	c.908C>T	c.(907-909)gCg>gTg	p.A303V	FOXN3_uc001xxn.4_Missense_Mutation_p.A281V|FOXN3_uc010atk.3_Missense_Mutation_p.A281V	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	303					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTCATGGCCGCTGTCACCCC	0.637													A	89647054	G	A	89647054	3	1	177	1	0	0	0	0	1	0	0	0	6021	1087	38	1	572	1	FOXN3	14	89647054	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	47290253	89647054	17702486	56	12334											
BAHD1	22893	broad.mit.edu	37	15	40758215	40758215	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr15:40758215C>T	uc001zlu.2	+	6	2300	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	BAHD1_uc001zlt.2_Silent_p.D742D|BAHD1_uc010bbp.1_Silent_p.D739D|BAHD1_uc001zlv.2_Silent_p.D740D	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	743	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTCTGCAGACTATTCCACCC	0.602													T	40758215	C	T	40758215	2	4	177	1	0	0	0	0	0	0	0	1	1297	564	20	3		3	BAHD1	15	40758215	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		40758215	61773177	57	12335											
TARSL2	123283	broad.mit.edu	37	15	102242566	102242566	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr15:102242566C>T	uc002bxm.3	-	8	1152	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	366					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGATTGCCCTCCCAATA	0.353													T	102242566	C	T	102242566	3	4	177	1	0	0	0	0	1	0	0	0	15558	739	26	3	1355	3	TARSL2	15	102242566	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	61484351	102242566	288826	58	12336											
IL32	9235	broad.mit.edu	37	16	3119233	3119233	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:3119233C>T	uc002ctq.3	+	5	677	c.582C>T	c.(580-582)ttC>ttT	p.F194F	IL32_uc002ctn.3_Silent_p.F148F|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Silent_p.F194F|IL32_uc010uwp.2_Silent_p.F128F|IL32_uc010btb.3_Silent_p.F138F|IL32_uc002ctl.3_Silent_p.F148F|IL32_uc002ctm.3_Silent_p.F148F|IL32_uc002ctp.3_Silent_p.F128F|IL32_uc002ctr.3_Silent_p.F128F|IL32_uc002ctt.3_Silent_p.F148F|IL32_uc010uwr.2_Silent_p.F108F|IL32_uc002ctu.3_Silent_p.F139F|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	194					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGAAACAGTTCCAGAGTTTCT	0.612													T	3119233	C	T	3119233	2	4	177	1	0	0	0	0	0	0	0	1	7692	854	30	3		3	IL32	16	3119233	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		3119233	87235520	59	12337											
ITGAM	3684	broad.mit.edu	37	16	31309135	31309135	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:31309135G>T	uc002ebr.3	+	13	1668	c.1570G>T	c.(1570-1572)Gcc>Tcc	p.A524S	ITGAM_uc002ebq.3_Missense_Mutation_p.A523S|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Intron	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	523					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTTGGGGCAGCCCTAACAGT	0.607													T	31309135	G	T	31309135	3	4	177	1	0	0	0	0	1	0	0	0	7887	971	34	5	1624	5	ITGAM	16	31309135	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	28189902	31309135	59045618	60	12338											
CHST5	23563	broad.mit.edu	37	16	75564025	75564025	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:75564025G>A	uc002fej.1	-	4	597	c.276C>T	c.(274-276)ccC>ccT	p.P92P	CHST5_uc002fei.3_Silent_p.P86P|CHST5_uc021tlk.1_Silent_p.P86P	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	86					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGAAGACGTCGGGGTGCTGGC	0.677													A	75564025	G	A	75564025	2	1	177	1	0	0	0	0	0	0	0	1	3407	1103	39	2		2	CHST5	16	75564025	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	44254890	75564025	14790728	61	12339											
SUPT6H	6830	broad.mit.edu	37	17	27010834	27010834	+	Silent	SNP	G	G	A			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr17:27010834G>A	uc010crt.3	+	18	2421	c.2229_splice	c.e18+1	p.K743_splice	SUPT6H_uc002hby.3_Splice_Site_p.K743_splice	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	743					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ATGTCATAAAGGTGAGGACAG	0.478													A	27010834	G	A	27010834	2	1	177	1	0	0	0	0	0	0	0	1	15397	1014	35	3		3	SUPT6H	17	27010834	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		27010834	54184376	62	12340											
DSG4	147409	broad.mit.edu	37	18	28968937	28968937	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr18:28968937C>T	uc002kwr.2	+	4	608	c.473C>T	c.(472-474)tCg>tTg	p.S158L	DSG4_uc002kwq.2_Missense_Mutation_p.S158L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	158	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S158L(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)			CCAGTCTTTTCGCAAAGTGTA	0.413													T	28968937	C	T	28968937	3	4	177	1	0	0	0	0	1	0	0	0	4779	893	31	2	491	2	DSG4	18	28968937	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08		28968937	49108311	63	12341											
ZNF57	126295	broad.mit.edu	37	19	2918067	2918067	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:2918067A>G	uc002lwr.3	+	3	1596	c.1448A>G	c.(1447-1449)aAa>aGa	p.K483R	ZNF57_uc010xha.2_Missense_Mutation_p.K451R	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CAATGTGGAAAAACCTTCACT	0.448													G	2918067	A	G	2918067	3	3	177	1	0	0	0	0	1	0	0	0	17998	14	1	4	1462	4	ZNF57	19	2918067	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08		2918067	56210916	64	12342											
MUC16	94025	broad.mit.edu	37	19	9062081	9062081	+	Silent	SNP	G	G	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:9062081G>C	uc002mkp.3	-	2	25569	c.25365C>G	c.(25363-25365)tcC>tcG	p.S8455S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8457	Ser-rich.|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						TTCCCCTAGAGGATATCACTT	0.522													C	9062081	G	C	9062081	2	2	177	1	0	0	0	0	0	0	0	1	9973	987	35	5		5	MUC16	19	9062081	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	6144014	9062081	50066902	65	12343											
FBXL12	54850	broad.mit.edu	37	19	9921682	9921682	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:9921682C>T	uc002mme.3	-	2	1113	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	FBXL12_uc002mmd.3_Missense_Mutation_p.G238R|FBXL12_uc002mmf.3_Missense_Mutation_p.G238R|FBXL12_uc002mmg.3_Missense_Mutation_p.G238R	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	291							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CACCCCAGCCCCTGCAGCTCA	0.612													T	9921682	C	T	9921682	3	4	177	1	0	0	0	0	1	0	0	0	5708	623	22	3	113	3	FBXL12	19	9921682	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	859601	9921682	49207301	66	12344											
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:17945947C>T	uc002nhn.4	-	14	2092	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.P664P	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	664	Protein kinase 1.				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			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						TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								T	17945947	C	T	17945947	2	4	177	1	0	0	0	0	0	0	0	1	7939	755	27	1		1	JAK3	19	17945947	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	8024265	17945947	41183036	67	12345											
CD22	933	broad.mit.edu	37	19	35837570	35837570	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:35837570A>C	uc010edt.3	+	13	2598	c.2514A>C	c.(2512-2514)gaA>gaC	p.E838D	CD22_uc010edu.3_Missense_Mutation_p.E750D|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.E661D|CD22_uc010xst.2_Missense_Mutation_p.E666D|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	838					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGGCACAAGAAAATGTGGACT	0.552													C	35837570	A	C	35837570	3	2	177	1	0	0	0	0	1	0	0	0	2985	11	1	5	2564	5	CD22	19	35837570	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08	17891623	35837570	23291413	68	12346											
SIPA1L3	23094	broad.mit.edu	37	19	38572329	38572329	+	Nonsense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:38572329C>T	uc002ohk.3	+	2	633	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	42					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			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)			ATTCTGGGCCCAGAATGGCAG	0.706													T	38572329	C	T	38572329	4	4	177	1	0	0	0	0	0	1	0	0	14331	595	21	3	126	3	SIPA1L3	19	38572329	Nonsense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	2734759	38572329	20556654	69	12347											
ZFP112	26974	broad.mit.edu	37	19	44891167	44891167	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:44891167C>T	uc010xxa.2	-	3	1304	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.V414I	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						ACTTGAAGAACGGAGCTTGAA	0.488													T	44891167	C	T	44891167	3	4	177	1	0	0	0	0	1	0	0	0	17635	536	19	1		1	ZFP112	19	44891167	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	6318838	44891167	14237816	70	12348											
CKM	1158	broad.mit.edu	37	19	45821144	45821144	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:45821144C>T	uc002pbd.3	-	2	460	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	96	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCCCCCGTGGCGATCCGAGAT	0.582													T	45821144	C	T	45821144	3	4	177	1	0	0	0	0	1	0	0	0	3448	768	27	1	882	1	CKM	19	45821144	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	929977	45821144	13307839	71	12349											
ZNF805	390980	broad.mit.edu	37	19	57765629	57765629	+	Missense_Mutation	SNP	A	A	C			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:57765629A>C	uc010ygt.2	+	3	1649	c.1442A>C	c.(1441-1443)aAg>aCg	p.K481T	ZNF805_uc010ygu.2_Missense_Mutation_p.K348T|ZNF805_uc021vcj.1_Missense_Mutation_p.K348T	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN	Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTGGAGAGAAGCCCTATGAG	0.527													C	57765629	A	C	57765629	3	2	177	1	0	0	0	0	1	0	0	0	18169	72	3	5	1456	5	ZNF805	19	57765629	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08	11944485	57765629	1363354	72	12350											
GGTLC1	92086	broad.mit.edu	37	20	23967182	23967182	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:23967182A>G	uc002wts.3	-	1	200	c.67T>C	c.(67-69)Tcc>Ccc	p.S23P	GGTLC1_uc002wtu.3_Missense_Mutation_p.S23P|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	23							gamma-glutamyltransferase activity	p.S23Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TTGTAGTAGGAGATCGGGTGA	0.632													G	23967182	A	G	23967182	3	3	177	1	0	0	0	0	1	0	0	0	6365	304	11	4	630	4	GGTLC1	20	23967182	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08		23967182	39058338	73	12351											
MATN4	8785	broad.mit.edu	37	20	43922452	43922452	+	Silent	SNP	C	C	T			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:43922452C>T	uc002xnn.2	-	9	1888	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	MATN4_uc002xnp.2_Silent_p.T485T|MATN4_uc002xno.2_Silent_p.T526T	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	608						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CCAGGCGCGCCGTCAGCTGGG	0.687													T	43922452	C	T	43922452	2	4	177	1	0	0	0	0	0	0	0	1	9336	639	23	2		2	MATN4	20	43922452	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	19955270	43922452	19103068	74	12352											
FAM65C	140876	broad.mit.edu	37	20	49232571	49232571	+	Missense_Mutation	SNP	G	G	A	rs147229572		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:49232571G>A	uc010zyt.2	-	3	567	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R102C|FAM65C_uc002xvn.1_Missense_Mutation_p.R102C	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	102								p.R102C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTTTGTGGCGTCCAGACAGG	0.542													A	49232571	G	A	49232571	3	1	177	1	0	0	0	0	1	0	0	0	5601	1145	40	1	2612	1	FAM65C	20	49232571	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	5310119	49232571	13792949	75	12353											
TAF4	6874	broad.mit.edu	37	20	60572701	60572706	+	In_Frame_Del	DEL	TTTGTG	TTTGTG	-			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:60572701_60572706delTTTGTG	uc002ybs.3	-	13	2990_2995	c.2990_2995delCACAAA	c.(2989-2997)gcacaaatg>gtg	p.997_999AQM>V		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	997					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.M999V(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGCTGTCTCATTTGTGCCAGTTCCTG	0.471													-	60572706	TTTGTG	-	60572701	7	5	177	1	0	1	0	1	0	0	0	0	15523	1493	52	0	270	0	TAF4	20	60572701	In_Frame_Del	DEL	TTTGTG	TCGA-26-5135-01A-01D-1486-08	11340130	60572701	2452819	76	12354											
PIK3CD	5293	broad.mit.edu	37	1	9780231	9780231	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:9780231C>T	uc001aqe.4	+	9	1504	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	PIK3CD_uc001aqb.4_Silent_p.S467S|PIK3CD_uc010oaf.2_Silent_p.S467S|PIK3CD_uc021ogb.1_Silent_p.S251S	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	467					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		ACACGGATAGCGCCGCTGCCC	0.662													T	9780231	C	T	9780231	2	4	178	1	0	0	0	0	0	0	0	1	11915	767	27	1		1	PIK3CD	1	9780231	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		9780231	239470390	1	12355											
MUL1	79594	broad.mit.edu	37	1	20828674	20828674	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:20828674G>A	uc001bdi.4	-	2	374	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	73					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TTAACAGACCGCACAGCTCCT	0.433													A	20828674	G	A	20828674	3	1	178	1	0	0	0	0	1	0	0	0	9984	1086	38	1	849	1	MUL1	1	20828674	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	11048443	20828674	228421947	2	12356											
ZNF644	84146	broad.mit.edu	37	1	91404393	91404393	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:91404393C>T	uc001dnw.3	-	2	2801	c.2518G>A	c.(2518-2520)Gtt>Att	p.V840I	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.V840I	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTGCAAAACGACAACAGTC	0.363													T	91404393	C	T	91404393	3	4	178	1	0	0	0	0	1	0	0	0	18057	536	19	1	1481	1	ZNF644	1	91404393	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	70575719	91404393	157846228	3	12357											
AMPD1	270	broad.mit.edu	37	1	115220069	115220069	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:115220069G>A	uc001efe.2	-	9	1438	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	AMPD1_uc001eff.2_Missense_Mutation_p.R460C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	431					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCAGGACTGCGGCCATAGATG	0.567													A	115220069	G	A	115220069	3	1	178	1	0	0	0	0	1	0	0	0	585	1116	39	2	980	2	AMPD1	1	115220069	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	23815676	115220069	134030552	4	12358											
PPIAL4G	644591	broad.mit.edu	37	1	143767630	143767630	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:143767630G>A	uc001ejt.3	-	0	252	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	73	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.T73T(2)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ACTTGTCACCGGTGCCATTAG	0.468													A	143767630	G	A	143767630	2	1	178	1	0	0	0	0	0	0	0	1	12318	1103	39	2		2	PPIAL4G	1	143767630	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	28547561	143767630	105482991	5	12359											
PEAR1	375033	broad.mit.edu	37	1	156879622	156879622	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:156879622C>T	uc001fqj.1	+	11	1607	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	PEAR1_uc001fqk.1_Silent_p.A122A	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	497	EGF-like 6.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCAGTGTGCCCATGAGGCAG	0.662													T	156879622	C	T	156879622	2	4	178	1	0	0	0	0	0	0	0	1	11712	610	22	3		3	PEAR1	1	156879622	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08	13111992	156879622	92370999	6	12360											
PVRL4	81607	broad.mit.edu	37	1	161049529	161049529	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:161049529C>T	uc001fxo.2	-	1	589	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	97	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCTCCACGCGGCCCTCGTA	0.687													T	161049529	C	T	161049529	3	4	178	1	0	0	0	0	1	0	0	0	12842	768	27	1	1274	1	PVRL4	1	161049529	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	4169907	161049529	88201092	7	12361											
SIPA1L2	57568	broad.mit.edu	37	1	232561420	232561420	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:232561420G>A	uc001hvg.3	-	15	4703	c.4545C>T	c.(4543-4545)aaC>aaT	p.N1515N	SIPA1L2_uc001hvf.3_Silent_p.N589N	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1515					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACAGAATGTCGTTGGGCAGGG	0.642													A	232561420	G	A	232561420	2	1	178	1	0	0	0	0	0	0	0	1	14330	1136	40	1		1	SIPA1L2	1	232561420	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	71511891	232561420	16689201	8	12362											
SIPA1L2	57568	broad.mit.edu	37	1	232626679	232626679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:232626679G>A	uc001hvg.3	-	2	1905	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	583					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGCCTGTCGCAAACACTGA	0.463													A	232626679	G	A	232626679	4	1	178	1	0	0	0	0	0	1	0	0	14330	1095	38	1	3497	1	SIPA1L2	1	232626679	Nonsense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	65259	232626679	16623942	9	12363											
OR2T6	254879	broad.mit.edu	37	1	248551010	248551010	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:248551010T>C	uc001iei.1	+	0	101	c.101T>C	c.(100-102)gTc>gCc	p.V34A		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V34A(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			ATTTGTGCCGTCTTCTTCATG	0.463													C	248551010	T	C	248551010	3	2	178	1	0	0	0	0	1	0	0	0	11029	1667	58	4	103	4	OR2T6	1	248551010	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08	15924331	248551010	699611	10	12364											
MYCN	4613	broad.mit.edu	37	2	16082359	16082359	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:16082359C>T	uc002rci.3	+	1	473	c.173C>T	c.(172-174)aCg>aTg	p.T58M	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.2_Missense_Mutation_p.T58M	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	58					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTGCTGCCCACGCCCCCGCTG	0.677			A		neuroblastoma								T	16082359	C	T	16082359	3	4	178	1	0	0	0	0	1	0	0	0	10021	536	19	1	175	1	MYCN	2	16082359	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		16082359	227117014	11	12365											
SCN9A	6335	broad.mit.edu	37	2	167141183	167141183	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:167141183C>G	uc010fpl.3	-	11	2095	c.1754G>C	c.(1753-1755)aGg>aCg	p.R585T	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R456T|SCN9A_uc002uds.1_Missense_Mutation_p.R456T|SCN9A_uc002udt.1_Missense_Mutation_p.R456T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	585						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGTGAGCCCCTTCTGCTCTC	0.502													G	167141183	C	G	167141183	3	3	178	1	0	0	0	0	1	0	0	0	13925	681	24	5	4243	5	SCN9A	2	167141183	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	151058824	167141183	76058190	12	12366											
COL6A3	1293	broad.mit.edu	37	2	238270475	238270475	+	Splice_Site	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:238270475C>G	uc002vwl.2	-	15	6349	c.6064_splice	c.e15-1	p.D2022_splice	COL6A3_uc002vwo.2_Splice_Site_p.D1816_splice|COL6A3_uc010znj.1_Splice_Site_p.D1415_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2022	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		CAATGTTGTCCTACCGAAAGG	0.527													G	238270475	C	G	238270475	5	3	178	1	0	0	0	0	0	0	1	0	3701	695	24	5	3590	5	COL6A3	2	238270475	Splice_Site	SNP	C	TCGA-26-5136-01B-01D-1486-08	71129292	238270475	4928898	13	12367											
OXSM	54995	broad.mit.edu	37	3	25832620	25832620	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr3:25832620A>G	uc003cdn.3	+	1	216	c.109A>G	c.(109-111)Ata>Gta	p.I37V	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Missense_Mutation_p.I37V|OXSM_uc011awp.2_5'UTR	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AACTGTGCCAATATCCAGATT	0.428													G	25832620	A	G	25832620	3	3	178	1	0	0	0	0	1	0	0	0	11335	101	4	4	111	4	OXSM	3	25832620	Missense_Mutation	SNP	A	TCGA-26-5136-01B-01D-1486-08		25832620	172189810	14	12368											
PIK3CA	5290	broad.mit.edu	37	3	178916882	178916882	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr3:178916882G>A	uc003fjk.3	+	1	426	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	90	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGACGACTTTGTGACCTTCGG	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916882	G	A	178916882	3	1	178	1	0	0	0	0	1	0	0	0	11913	1377	48	3	271	3	PIK3CA	3	178916882	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	153084262	178916882	19105548	15	12369											
UGT2B10	7365	broad.mit.edu	37	4	69696492	69696492	+	Silent	SNP	G	G	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr4:69696492G>T	uc003hee.3	+	5	1507	c.1482G>T	c.(1480-1482)ggG>ggT	p.G494G	UGT2B10_uc011cam.2_Silent_p.G410G	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	494					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGTGATTGGGTTCCTGCTGG	0.458													T	69696492	G	T	69696492	2	4	178	1	0	0	0	0	0	0	0	1	16953	1248	44	5		5	UGT2B10	4	69696492	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08		69696492	121457784	16	12370											
FAM13A	10144	broad.mit.edu	37	4	89941642	89941642	+	Silent	SNP	C	C	T	rs147082682	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr4:89941642C>T	uc003hse.1	-	2	604	c.396G>A	c.(394-396)gcG>gcA	p.A132A	FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	132	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S131*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GAGGCTGCAACGCTGAGGTGA	0.512													T	89941642	C	T	89941642	2	4	178	1	0	0	0	0	0	0	0	1	5452	523	19	1		1	FAM13A	4	89941642	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08	20245150	89941642	101212634	17	12371											
PTGER4	5734	broad.mit.edu	37	5	40681502	40681502	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr5:40681502C>T	uc003jlz.3	+	1	999	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	136					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.A136A(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AAGCGATTGGCGGGCCTCACG	0.597											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40681502	C	T	40681502	3	4	178	1	0	0	0	0	1	0	0	0	12745	768	27	1	409	1	PTGER4	5	40681502	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		40681502	140233758	18	12372											
HSP90AB1	3326	broad.mit.edu	37	6	44217321	44217321	+	Splice_Site	SNP	G	G	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr6:44217321G>T	uc003oxa.1	+	3	438	c.354_splice	c.e3+1	p.Q118_splice	HSP90AB1_uc011dvr.1_Splice_Site_p.Q118_splice|HSP90AB1_uc003oxb.1_Splice_Site_p.Q118_splice|HSP90AB1_uc011dvs.1_Splice_Site|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	118					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCTCTTCAGGTATTGCAGTT	0.403													T	44217321	G	T	44217321	5	4	178	1	0	0	0	0	0	0	1	0	7402	1275	44	5	361	5	HSP90AB1	6	44217321	Splice_Site	SNP	G	TCGA-26-5136-01B-01D-1486-08		44217321	126897746	19	12373											
RABGEF1	27342	broad.mit.edu	37	7	66262470	66262470	+	Silent	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:66262470T>C	uc003tvf.3	+	9	1540	c.324T>C	c.(322-324)gaT>gaC	p.D108D	RABGEF1_uc003tvg.3_Silent_p.D43D|RABGEF1_uc003tvh.3_Silent_p.D235D|RABGEF1_uc010lag.3_Silent_p.D235D|RABGEF1_uc011kee.2_Silent_p.D249D|RABGEF1_uc003tvi.3_Silent_p.D69D	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	452					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	p.A107A(1)|p.A107T(1)|p.S108F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAAGAAAGATCTTGCCATTC	0.358													C	66262470	T	C	66262470	2	2	178	1	0	0	0	0	0	0	0	1	12966	1432	50	4		4	RABGEF1	7	66262470	Silent	SNP	T	TCGA-26-5136-01B-01D-1486-08		66262470	92876193	20	12374											
TRIM50	135892	broad.mit.edu	37	7	72734159	72734159	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:72734159C>T	uc003txy.1	-	2	683	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Missense_Mutation_p.R161Q|TRIM50_uc003txz.1_Missense_Mutation_p.R161Q	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	161						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GATTCGGGTCCGGTTGTTCAC	0.562													T	72734159	C	T	72734159	3	4	178	1	0	0	0	0	1	0	0	0	16523	652	23	2	1001	2	TRIM50	7	72734159	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	6471689	72734159	86404504	21	12375											
BAIAP2L1	55971	broad.mit.edu	37	7	97922864	97922864	+	Missense_Mutation	SNP	G	G	A	rs140138864		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:97922864G>A	uc003upj.3	-	13	1768	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	502	Binds F-actin.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GCGATCATTCGTCACAGTCGG	0.547													A	97922864	G	A	97922864	3	1	178	1	0	0	0	0	1	0	0	0	1302	1145	40	1	34	1	BAIAP2L1	7	97922864	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	25188705	97922864	61215799	22	12376											
RELN	5649	broad.mit.edu	37	7	103389896	103389896	+	Silent	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:103389896T>C	uc022ajr.1	-	5	793	c.633A>G	c.(631-633)caA>caG	p.Q211Q	RELN_uc022ajq.1_Silent_p.Q211Q|RELN_uc010liz.3_Silent_p.Q211Q	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	211					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			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)		TTAATTGCAGTTGGTGGTAGG	0.353													C	103389896	T	C	103389896	2	2	178	1	0	0	0	0	0	0	0	1	13220	1722	60	4		4	RELN	7	103389896	Silent	SNP	T	TCGA-26-5136-01B-01D-1486-08	5467032	103389896	55748767	23	12377											
PARP12	64761	broad.mit.edu	37	7	139724367	139724367	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:139724367C>T	uc003vvl.1	-	11	2973	c.2099G>A	c.(2098-2100)cGa>cAa	p.R700Q	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	700						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CGCTCACTGTCGGCTGCTGAA	0.522													T	139724367	C	T	139724367	3	4	178	1	0	0	0	0	1	0	0	0	11457	884	31	2	10	2	PARP12	7	139724367	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	36334471	139724367	19414296	24	12378											
OR2F2	135948	broad.mit.edu	37	7	143632582	143632582	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:143632582T>C	uc011ktv.2	+	0	257	c.257T>C	c.(256-258)cTt>cCt	p.L86P		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	86					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)					GCACATTTTCTTGCAGAACAT	0.522													C	143632582	T	C	143632582	3	2	178	1	0	0	0	0	1	0	0	0	10997	1609	56	4	259	4	OR2F2	7	143632582	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08	3908215	143632582	15506081	25	12379											
SLC4A2	6522	broad.mit.edu	37	7	150759094	150759094	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:150759094G>A	uc022apz.1	+	1	1060	c.20G>A	c.(19-21)cGc>cAc	p.R7H	SLC4A2_uc003wit.4_Missense_Mutation_p.R7H|SLC4A2_uc011kve.2_5'Flank|SLC4A2_uc003wiu.4_5'Flank	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	7	Pro-rich.			R -> L (in Ref. 1; CAA44067).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.R7L(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCCTCGGCGCCCCGCCAAG	0.667													A	150759094	G	A	150759094	3	1	178	1	0	0	0	0	1	0	0	0	14654	1087	38	1	22	1	SLC4A2	7	150759094	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	7126512	150759094	8379569	26	12380											
TRIM14	9830	broad.mit.edu	37	9	100857227	100857227	+	Missense_Mutation	SNP	C	C	T	rs149392923		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr9:100857227C>T	uc004ayd.2	-	3	640	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.V208I|TRIM14_uc004ayh.1_Missense_Mutation_p.V208I	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	208						cytoplasm|intracellular	zinc ion binding	p.V208I(2)|p.P207L(1)|p.P207P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AAGCTCTTGACGGGCTCAAAG	0.582													T	100857227	C	T	100857227	3	4	178	1	0	0	0	0	1	0	0	0	16486	536	19	1	718	1	TRIM14	9	100857227	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		100857227	40356204	27	12381											
C9orf163	158055	broad.mit.edu	37	9	139379109	139379109	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr9:139379109G>A	uc004chy.3	+	0	1163	c.209G>A	c.(208-210)gGg>gAg	p.G70E	SEC16A_uc004chx.3_5'Flank|SEC16A_uc010nbn.3_5'Flank|SEC16A_uc010nbo.1_5'Flank	NM_152571	NP_689784	Q8N9P6	CI163_HUMAN	Homo sapiens chromosome 9 open reading frame 163 (C9orf163), mRNA.	70							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		GTGAGGGAGGGGGTGATATCC	0.687													A	139379109	G	A	139379109	3	1	178	1	0	0	0	0	1	0	0	0	2467	1232	43	3	211	3	C9orf163	9	139379109	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	38521882	139379109	1834322	28	12382											
EPC1	80314	broad.mit.edu	37	10	32580102	32580102	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:32580102T>C	uc001iwg.1	-	5	1234	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	EPC1_uc001iwi.3_Missense_Mutation_p.K272E|EPC1_uc009xlt.2_Missense_Mutation_p.K272E|EPC1_uc001iwh.1_Missense_Mutation_p.K322E	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	322					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTATTAACTTTGAACTCCTTC	0.333													C	32580102	T	C	32580102	3	2	178	1	0	0	0	0	1	0	0	0	5160	1821	63	4	1586	4	EPC1	10	32580102	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08		32580102	102954645	29	12383											
TBC1D12	23232	broad.mit.edu	37	10	96163266	96163266	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:96163266C>A	uc001kjr.2	+	0	1081	c.896C>A	c.(895-897)cCc>cAc	p.P299H		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	299						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GTGCCCTTGCCCGCCGCGGAG	0.692													A	96163266	C	A	96163266	3	1	178	1	0	0	0	0	1	0	0	0	15598	623	22	5	898	5	TBC1D12	10	96163266	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	63583164	96163266	39371481	30	12384											
C10orf129	142827	broad.mit.edu	37	10	96979715	96979715	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:96979715C>T	uc001kke.3	+	8	1312	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	C10orf129_uc009xuu.1_Missense_Mutation_p.P306L	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	396					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCATTGCCACCTTATATTGTC	0.368													T	96979715	C	T	96979715	3	4	178	1	0	0	0	0	1	0	0	0	1593	681	24	3	1217	3	C10orf129	10	96979715	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	816449	96979715	38555032	31	12385											
DMBT1	1755	broad.mit.edu	37	10	124351971	124351971	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:124351971G>A	uc001lgk.1	+	19	2466	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R777Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R787Q|DMBT1_uc021qag.1_Missense_Mutation_p.R777Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R787Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.R400Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	787	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCGGTTTGGCCAG	0.622													A	124351971	G	A	124351971	3	1	178	1	0	0	0	0	1	0	0	0	4577	1116	39	2	2438	2	DMBT1	10	124351971	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	27372256	124351971	11182776	32	12386											
HMX3	340784	broad.mit.edu	37	10	124896723	124896723	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:124896723G>C	uc010quc.2	+	1	550	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	Homo sapiens H6 family homeobox 3 (HMX3), mRNA.	184					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CGACTCCGAGGAAAGCAAAAA	0.677													C	124896723	G	C	124896723	3	2	178	1	0	0	0	0	1	0	0	0	7248	1175	41	5	556	5	HMX3	10	124896723	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	544752	124896723	10638024	33	12387											
PAOX	196743	broad.mit.edu	37	10	135197588	135197588	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:135197588C>A	uc001lmv.3	+	3	1073	c.993C>A	c.(991-993)ttC>ttA	p.F331L	PAOX_uc001lmx.3_Missense_Mutation_p.F331L|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Intron|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	469					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGGAGCCCTTCTGGGAGCCAG	0.587													A	135197588	C	A	135197588	3	1	178	1	0	0	0	0	1	0	0	0	11423	912	32	5	1007	5	PAOX	10	135197588	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	10300865	135197588	337159	34	12388											
PCF11	51585	broad.mit.edu	37	11	82878503	82878505	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:82878503_82878505delTTG	uc001ozx.4	+	6	2393_2395	c.2048_2050delTTG	c.(2047-2052)cttgtt>ctt	p.V686del	PCF11_uc010rsu.1_In_Frame_Del_p.V686del	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	686					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATGACTTCCTTGTTGTTGTGCA	0.33													-	82878505	TTG	-	82878503	7	5	178	1	0	1	0	1	0	0	0	0	11573	1609	56	0	2074	0	PCF11	11	82878503	In_Frame_Del	DEL	TTG	TCGA-26-5136-01B-01D-1486-08		82878503	52128013	35	12389											
TRIM49	57093	broad.mit.edu	37	11	89531467	89531467	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:89531467A>T	uc001pdb.3	-	7	1519	c.1190T>A	c.(1189-1191)cTt>cAt	p.L397H		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	397	B30.2/SPRY.					intracellular	zinc ion binding	p.P396Q(1)|p.P396T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTGCAGCATAAGTGGGGAGGT	0.428													T	89531467	A	T	89531467	3	4	178	1	0	0	0	0	1	0	0	0	16521	72	3	5	172	5	TRIM49	11	89531467	Missense_Mutation	SNP	A	TCGA-26-5136-01B-01D-1486-08	6652964	89531467	45475049	36	12390											
ANGPTL5	253935	broad.mit.edu	37	11	101762250	101762250	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:101762250C>T	uc001pgl.3	-	8	1523	c.927G>A	c.(925-927)ggG>ggA	p.G309G		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	309	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CAGGGCGACACCCATCATTAT	0.443													T	101762250	C	T	101762250	2	4	178	1	0	0	0	0	0	0	0	1	617	494	18	3		3	ANGPTL5	11	101762250	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08	12230783	101762250	33244266	37	12391											
TSPAN9	10867	broad.mit.edu	37	12	3389625	3389625	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr12:3389625C>T	uc001qlp.3	+	5	591	c.408C>T	c.(406-408)aaC>aaT	p.N136N	TSPAN9_uc021qtd.1_Silent_p.N136N	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	136						integral to plasma membrane|membrane fraction		p.K135R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GGCTGAAGAACGCCTGGAACA	0.657													T	3389625	C	T	3389625	2	4	178	1	0	0	0	0	0	0	0	1	16651	535	19	1		1	TSPAN9	12	3389625	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		3389625	130462270	38	12392											
PABPC3	5042	broad.mit.edu	37	13	25671151	25671151	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:25671151G>A	uc001upy.3	+	0	876	c.815G>A	c.(814-816)cGg>cAg	p.R272Q		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	272					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.R272Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGTGGAACGGCAGACGGAA	0.398													A	25671151	G	A	25671151	3	1	178	1	0	0	0	0	1	0	0	0	11365	1116	39	2	817	2	PABPC3	13	25671151	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		25671151	89498727	39	12393											
UGGT2	55757	broad.mit.edu	37	13	96530054	96530054	+	Silent	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:96530054T>C	uc001vmt.3	-	27	3455	c.3285A>G	c.(3283-3285)caA>caG	p.Q1095Q	UGGT2_uc001vmu.1_Silent_p.Q182Q	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1095					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TATCAAAGCATTGTCCTTCCA	0.403													C	96530054	T	C	96530054	2	2	178	1	0	0	0	0	0	0	0	1	16939	1490	52	4		4	UGGT2	13	96530054	Silent	SNP	T	TCGA-26-5136-01B-01D-1486-08	70858903	96530054	18639824	40	12394											
ADPRHL1	113622	broad.mit.edu	37	13	114107590	114107590	+	Missense_Mutation	SNP	C	C	T	rs149499588		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:114107590C>T	uc001vtq.1	-	0	250	c.163G>A	c.(163-165)Gtg>Atg	p.V55M		NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	55					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TTGTCACTCACGGGCCATTCT	0.632													T	114107590	C	T	114107590	3	4	178	1	0	0	0	0	1	0	0	0	332	536	19	1	929	1	ADPRHL1	13	114107590	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	17577536	114107590	1062288	41	12395											
PEX11A	8800	broad.mit.edu	37	15	90226620	90226620	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr15:90226620C>T	uc002boi.3	-	2	827	c.732G>A	c.(730-732)ctG>ctA	p.L244L	PEX11A_uc010upy.2_Non-coding_Transcript	NM_003847	NP_003838	O75192	PX11A_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA.	244					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)			AACGGGTCTTCAGCTTCATCT	0.453													T	90226620	C	T	90226620	2	4	178	1	0	0	0	0	0	0	0	1	11737	813	29	3		3	PEX11A	15	90226620	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		90226620	12304772	42	12396											
TIGD7	91151	broad.mit.edu	37	16	3349388	3349400	+	Frame_Shift_Del	DEL	TTCAGGTTCCTTT	TTCAGGTTCCTTT	-			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:3349388_3349400delTTCAGGTTCCTTT	uc021tcc.1	-	0	1215_1227	c.1215_1227delAAAGGAACCTGAA	c.(1213-1227)aaaaaggaacctgaafs	p.K405fs	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Frame_Shift_Del_p.K405fs	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	405					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GAAAATCATATTCAGGTTCCTTTTTGTAAAGAA	0.329													-	3349400	TTCAGGTTCCTTT	-	3349388	7	5	178	1	0	1	0	1	0	0	0	0	15898	1490	52	0	426	0	TIGD7	16	3349388	Frame_Shift_Del	DEL	TTCAGGTTCCTTT	TCGA-26-5136-01B-01D-1486-08		3349388	87005365	43	12397											
CDH5	1003	broad.mit.edu	37	16	66429972	66429972	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:66429972C>T	uc002eom.4	+	7	1384	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	410	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.R410H(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ATACTCCATCCGCAGGACCAG	0.493													T	66429972	C	T	66429972	3	4	178	1	0	0	0	0	1	0	0	0	3113	652	23	2	1254	2	CDH5	16	66429972	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	63080584	66429972	23924781	44	12398											
CDH15	1013	broad.mit.edu	37	16	89251737	89251737	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:89251737G>A	uc002fmt.3	+	4	736	c.659G>A	c.(658-660)cGc>cAc	p.R220H	CDH15_uc010cij.1_Missense_Mutation_p.R220H	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	220	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGCTGGACCGCGAGGTGAGG	0.706													A	89251737	G	A	89251737	3	1	178	1	0	0	0	0	1	0	0	0	3100	1087	38	1	677	1	CDH15	16	89251737	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	22821765	89251737	1103016	45	12399											
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:7578534C>A	uc002gim.2	-	4	590	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.3_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.K93N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; 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.K132N(94)|p.K132R(37)|p.K132E(20)|p.K132Q(13)|p.Y126_K132delYSPALNK(12)|p.N131del(11)|p.K132M(10)|p.N131Y(8)|p.0?(8)|p.N131I(5)|p.K132T(5)|p.K132*(4)|p.N131fs*27(4)|p.N131fs*39(3)|p.N131S(3)|p.Y126_N131delYSPALN(3)|p.S127_Q136del10(2)|p.A129_K132delALNK(2)|p.N131H(2)|p.L130_M133delLNKM(2)|p.K39N(2)|p.N131K(2)|p.K132_A138delKMFCQLA(2)|p.K132K(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_N131delALN(1)|p.N131N(1)|p.K132_M133del(1)|p.N131T(1)|p.M133fs*37(1)|p.S127fs*36(1)|p.K132W(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)		GGCAAAACATCTTGTTGAGGG	0.562		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)			A	7578534	C	A	7578534	3	1	178	1	0	0	0	0	1	0	0	0	16378	912	32	5	902	5	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		7578534	73616676	46	12400											
PHF12	57649	broad.mit.edu	37	17	27240145	27240145	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:27240145T>C	uc002hdg.1	-	8	1974	c.1444A>G	c.(1444-1446)Aca>Gca	p.T482A	PHF12_uc010wbb.1_Missense_Mutation_p.T464A|PHF12_uc002hdi.1_Missense_Mutation_p.T478A|PHF12_uc002hdj.1_Missense_Mutation_p.T482A|PHF12_uc010crw.1_Missense_Mutation_p.T185A|PHF12_uc002hdh.1_Missense_Mutation_p.T265A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	482	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGTCAGCTGTTTGCAGGGAG	0.542													C	27240145	T	C	27240145	3	2	178	1	0	0	0	0	1	0	0	0	11823	1725	60	4	1624	4	PHF12	17	27240145	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08	19661611	27240145	53955065	47	12401											
KIF18B	146909	broad.mit.edu	37	17	43005601	43005601	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:43005601C>G	uc010wji.2	-	12	2179	c.2078G>C	c.(2077-2079)tGc>tCc	p.C693S	KIF18B_uc002iht.3_Missense_Mutation_p.C702S|KIF18B_uc010wjh.2_Missense_Mutation_p.C690S	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGTGGCTGGGCAAACGCGAGG	0.647													G	43005601	C	G	43005601	3	3	178	1	0	0	0	0	1	0	0	0	8281	710	25	5	504	5	KIF18B	17	43005601	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	15765456	43005601	38189609	48	12402											
EPB41L3	23136	broad.mit.edu	37	18	5415838	5415838	+	Silent	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr18:5415838C>T	uc002kmt.1	-	12	2132	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	682	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.D681Y(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AACTGTCACTCGGGTCATTGT	0.582													T	5415838	C	T	5415838	2	4	178	1	0	0	0	0	0	0	0	1	5154	871	31	2		2	EPB41L3	18	5415838	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		5415838	72661410	49	12403											
NWD1	284434	broad.mit.edu	37	19	16860196	16860196	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:16860196G>A	uc002neu.4	+	5	1165	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NWD1_uc002net.4_Missense_Mutation_p.R113H|NWD1_uc002nev.4_Missense_Mutation_p.R42H|NWD1_uc021uqg.1_Missense_Mutation_p.R113H	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	248							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGTGGAGCCGCGACTTGGTG	0.597													A	16860196	G	A	16860196	3	1	178	1	0	0	0	0	1	0	0	0	10781	1087	38	1	344	1	NWD1	19	16860196	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		16860196	42268787	50	12404											
MAST3	23031	broad.mit.edu	37	19	18218415	18218415	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:18218415C>T	uc002nhz.4	+	1	58	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	20							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GAGCCTGCCACGCCGAGGACG	0.572													T	18218415	C	T	18218415	3	4	178	1	0	0	0	0	1	0	0	0	9326	536	19	1	64	1	MAST3	19	18218415	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	1358219	18218415	40910568	51	12405											
MLL2	9757	broad.mit.edu	37	19	36224327	36224327	+	Frame_Shift_Del	DEL	C	C	-			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:36224327delC	uc021usv.1	+	27	6877	c.6877delC	c.(6877-6879)cccfs	p.P2293fs	MLL2_uc021usu.1_Frame_Shift_Del_p.P1107fs	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	863	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCAGCACCTCCCCCATACAA	0.682			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	36224327	C	-	36224327	7	5	178	1	0	1	0	1	0	0	0	0	9621	855	30	0		0	MLL2	19	36224327	Frame_Shift_Del	DEL	C	TCGA-26-5136-01B-01D-1486-08	18005912	36224327	22904656	52	12406											
CD33	945	broad.mit.edu	37	19	51742917	51742917	+	Missense_Mutation	SNP	G	G	A	rs148758925	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:51742917G>A	uc002pwa.2	+	6	1109	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E230K|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	357					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			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)	CACCTCCACCGAATACTCAGA	0.527													A	51742917	G	A	51742917	3	1	178	1	0	0	0	0	1	0	0	0	3005	1059	37	2	1108	2	CD33	19	51742917	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	15518590	51742917	7386066	53	12407											
MBOAT7	79143	broad.mit.edu	37	19	54677935	54677935	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:54677935C>G	uc002qdq.3	-	8	1488	c.1222G>C	c.(1222-1224)Gac>Cac	p.D408H	TMC4_uc002qdo.3_5'Flank|TMC4_uc010erf.3_5'Flank|MBOAT7_uc010erg.3_Missense_Mutation_p.D92H|MBOAT7_uc010yem.2_Missense_Mutation_p.D390H|MBOAT7_uc002qdr.3_Missense_Mutation_p.D408H|MBOAT7_uc002qds.3_Missense_Mutation_p.D335H|MBOAT7_uc010yen.2_Missense_Mutation_p.D335H	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	408					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACATGTAGTCATAGGCGCGC	0.652													G	54677935	C	G	54677935	3	3	178	1	0	0	0	0	1	0	0	0	9358	826	29	5	200	5	MBOAT7	19	54677935	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	2935018	54677935	4451048	54	12408											
SAMHD1	25939	broad.mit.edu	37	20	35547889	35547889	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr20:35547889G>A	uc002xgh.2	-	6	930	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	244	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GAATTAATAAGGTGCTCAAAC	0.368													A	35547889	G	A	35547889	3	1	178	1	0	0	0	0	1	0	0	0	13828	1000	35	3	1190	3	SAMHD1	20	35547889	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		35547889	27477631	55	12409											
PRKX	5613	broad.mit.edu	37	X	3573336	3573336	+	Missense_Mutation	SNP	G	G	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:3573336G>C	uc010nde.3	-	2	834	c.453C>G	c.(451-453)ttC>ttG	p.F151L		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	151	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CTGCAGAGTAGAAGAGCCCCG	0.587													C	3573336	G	C	3573336	3	2	178	1	0	0	0	0	1	0	0	0	12527	933	33	5	647	5	PRKX	23	3573336	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		3573336	151697224	56	12410											
MSL3	10943	broad.mit.edu	37	X	11790274	11790274	+	Splice_Site	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:11790274G>A	uc004cuw.3	+	11	1387	c.1282_splice	c.e11-1	p.V428_splice	MSL3_uc011mig.2_Splice_Site_p.V279_splice|MSL3_uc011mih.2_Splice_Site_p.V416_splice|MSL3_uc004cuy.3_Splice_Site_p.V262_splice	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	428					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GCTTTTTCCAGGTCCTCTCCT	0.443													A	11790274	G	A	11790274	5	1	178	1	0	0	0	0	0	0	1	0	9879	1014	35	3	1403	3	MSL3	23	11790274	Splice_Site	SNP	G	TCGA-26-5136-01B-01D-1486-08	8216938	11790274	143480286	57	12411											
XK	7504	broad.mit.edu	37	X	37545375	37545375	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:37545375C>T	uc004ddq.3	+	0	243	c.161C>T	c.(160-162)aCg>aTg	p.T54M		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	54					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTGCAGCTCACGCTTCTCTTC	0.662													T	37545375	C	T	37545375	3	4	178	1	0	0	0	0	1	0	0	0	17428	536	19	1	163	1	XK	23	37545375	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	25755101	37545375	117725185	58	12412											
UBA1	7317	broad.mit.edu	37	X	47069360	47069360	+	Silent	SNP	G	G	C			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:47069360G>C	uc004dhj.4	+	17	2188	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L	UBA1_uc004dhk.4_Silent_p.L679L|UBA1_uc004dhm.3_Silent_p.L127L	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	679					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTGCGGCTGGCAGGCACTC	0.607													C	47069360	G	C	47069360	2	2	178	1	0	0	0	0	0	0	0	1	16824	1335	47	5		5	UBA1	23	47069360	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	9523985	47069360	108201200	59	12413											
OTUD5	55593	broad.mit.edu	37	X	48814296	48814296	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:48814296G>A	uc004dlu.3	-	0	598	c.537C>T	c.(535-537)gaC>gaT	p.D179D	OTUD5_uc004dlt.4_Silent_p.D179D|OTUD5_uc004dlv.3_Silent_p.D179D|OTUD5_uc011mmp.2_Intron	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	179					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCTCATACTCGTCCTCACTGT	0.677													A	48814296	G	A	48814296	2	1	178	1	0	0	0	0	0	0	0	1	11315	1136	40	1		1	OTUD5	23	48814296	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	1744936	48814296	106456264	60	12414											
TEX11	56159	broad.mit.edu	37	X	69871358	69871358	+	Silent	SNP	G	G	A			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:69871358G>A	uc004dyl.3	-	17	1632	c.1470C>T	c.(1468-1470)aaC>aaT	p.N490N	TEX11_uc004dyk.3_Silent_p.N165N|TEX11_uc004dym.3_Silent_p.N475N	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	490							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GAGTGAAAACGTTCCTAGGGT	0.358													A	69871358	G	A	69871358	2	1	178	1	0	0	0	0	0	0	0	1	15771	1136	40	1		1	TEX11	23	69871358	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	21057062	69871358	85399202	61	12415											
CXorf57	55086	broad.mit.edu	37	X	105855567	105855567	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:105855567C>T	uc004emi.4	+	0	408	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CXorf57_uc004emj.4_Missense_Mutation_p.T86M|CXorf57_uc004emh.2_Missense_Mutation_p.T86M	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	86										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGCGACACGGTGCCCAAG	0.557													T	105855567	C	T	105855567	3	4	178	1	0	0	0	0	1	0	0	0	4113	536	19	1	259	1	CXorf57	23	105855567	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	35984209	105855567	49414993	62	12416											
TMEM164	84187	broad.mit.edu	37	X	109247264	109247264	+	Nonsense_Mutation	SNP	G	G	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:109247264G>T	uc004eom.3	+	1	601	c.262G>T	c.(262-264)Gag>Tag	p.E88*	TMEM164_uc004eon.2_Intron|TMEM164_uc010npq.3_Nonsense_Mutation_p.E88*	NM_032227	NP_060168	Q5U3C3	TM164_HUMAN	Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA.	88						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GGAAGGCAAGGAGAGCCTGAG	0.617													T	109247264	G	T	109247264	4	4	178	1	0	0	0	0	0	1	0	0	16076	1175	41	5	264	5	TMEM164	23	109247264	Nonsense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	3391697	109247264	46023296	63	12417											
TREX2	11219	broad.mit.edu	37	X	152710600	152710600	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:152710600C>T	uc022chv.1	-	0	289	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	TREX2_uc010nud.2_Missense_Mutation_p.V97M|TREX2_uc011myp.2_Missense_Mutation_p.V97M|TREX2_uc010nue.2_Missense_Mutation_p.V139M|HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	Homo sapiens three prime repair exonuclease 2 (TREX2), mRNA.	140					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	p.V97M(2)|p.V140M(1)		endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCGCACCACGGCGCCATCA	0.657								Editing and processing nucleases					T	152710600	C	T	152710600	3	4	178	1	0	0	0	0	1	0	0	0	16474	536	19	1	424	1	TREX2	23	152710600	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	43463336	152710600	2559960	64	12418											
ATP2B3	492	broad.mit.edu	37	X	152830482	152830482	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:152830482A>T	uc004fht.1	+	18	3389	c.3263A>T	c.(3262-3264)gAa>gTa	p.E1088V	ATP2B3_uc004fhs.1_Missense_Mutation_p.E1088V|ATP2B3_uc010nuf.1_Missense_Mutation_p.E111V|ATP2B3_uc004fhu.1_Missense_Mutation_p.E11V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1088					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGCGAGGAAGAGATCGAC	0.662													T	152830482	A	T	152830482	3	4	178	1	0	0	0	0	1	0	0	0	1141	246	9	5	3337	5	ATP2B3	23	152830482	Missense_Mutation	SNP	A	TCGA-26-5136-01B-01D-1486-08	119882	152830482	2440078	65	12419											
VPS72	6944	broad.mit.edu	37	1	151149180	151149180	+	Silent	SNP	A	A	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:151149180A>T	uc001exe.1	-	5	1078	c.1035T>A	c.(1033-1035)ccT>ccA	p.P345P	TMOD4_uc001exd.3_5'Flank|TMOD4_uc001exc.4_5'Flank|TMOD4_uc010pct.2_5'Flank	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	345	Poly-Pro.|Pro-rich.				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	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;0.211)			GGGGCTCAGGAGGTGGCGGGC	0.572													T	151149180	A	T	151149180	2	4	179	1	0	0	0	0	0	0	0	1	17214	291	11	5		5	VPS72	1	151149180	Silent	SNP	A	TCGA-26-5139-01A-01D-1486-08		151149180	98101441	1	12420											
GON4L	55249	broad.mit.edu	37	1	155646478	155646478	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:155646478A>G	uc010pgi.2	-	3	791	c.599T>C	c.(598-600)tTt>tCt	p.F200S	GON4L_uc021paz.1_Missense_Mutation_p.F62S|GON4L_uc010pgg.2_5'UTR|GON4L_uc010pgh.2_Missense_Mutation_p.F51S|GON4L_uc009wqt.3_Missense_Mutation_p.F51S|GON4L_uc001flh.3_Missense_Mutation_p.F200S|GON4L_uc001fll.3_Missense_Mutation_p.F62S|GON4L_uc001flk.3_Missense_Mutation_p.F51S|GON4L_uc001flm.3_Missense_Mutation_p.F51S|GON4L_uc009wqu.3_5'UTR|GON4L_uc009wqv.3_5'UTR|GON4L_uc009wqw.3_Missense_Mutation_p.F51S|GON4L_uc001flj.3_Missense_Mutation_p.F62S|GON4L_uc001fli.3_Missense_Mutation_p.F62S|GON4L_uc001flo.3_5'UTR|GON4L_uc001fln.3_Missense_Mutation_p.F128S|GON4L_uc010pgj.2_Missense_Mutation_p.F128S|GON4L_uc001flp.3_Missense_Mutation_p.F62S|GON4L_uc009wqx.3_Missense_Mutation_p.F200S|GON4L_uc010pgk.2_Missense_Mutation_p.F200S	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	651					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGCTGTTCAAATAGTTCCTT	0.438													G	155646478	A	G	155646478	3	3	179	1	0	0	0	0	1	0	0	0	6572	14	1	4		4	GON4L	1	155646478	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08	4497298	155646478	93604143	2	12421											
PEAR1	375033	broad.mit.edu	37	1	156875138	156875138	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:156875138C>T	uc001fqj.1	+	3	345	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	77	EMI.					integral to membrane		p.R77S(2)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACCGTGTACCGTCAGGTGGT	0.657													T	156875138	C	T	156875138	3	4	179	1	0	0	0	0	1	0	0	0	11712	652	23	2	239	2	PEAR1	1	156875138	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	1228660	156875138	92375483	3	12422											
CD5L	922	broad.mit.edu	37	1	157804444	157804444	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:157804444G>A	uc001frk.4	-	3	614	c.471C>T	c.(469-471)aaC>aaT	p.N157N		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	157	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.Q156H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TATACCACTGGTTCTGGTGCT	0.622													A	157804444	G	A	157804444	2	1	179	1	0	0	0	0	0	0	0	1	3027	1252	44	3		3	CD5L	1	157804444	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	929306	157804444	91446177	4	12423											
MYT1L	23040	broad.mit.edu	37	2	1926965	1926965	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr2:1926965G>A	uc002qxe.3	-	9	1403	c.576C>T	c.(574-576)gaC>gaT	p.D192D	MYT1L_uc002qxd.3_Silent_p.D192D|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	192					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCATATTCGTCATTATTGT	0.388													A	1926965	G	A	1926965	2	1	179	1	0	0	0	0	0	0	0	1	10107	1136	40	1		1	MYT1L	2	1926965	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08		1926965	241272408	5	12424											
XDH	7498	broad.mit.edu	37	2	31620554	31620554	+	Missense_Mutation	SNP	C	C	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr2:31620554C>A	uc002rnv.1	-	5	554	c.475G>T	c.(475-477)Ggc>Tgc	p.G159C		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	159					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.Q158*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTCCGGAAGCCCTGGAGGATG	0.552													A	31620554	C	A	31620554	3	1	179	1	0	0	0	0	1	0	0	0	17423	623	22	5	3650	5	XDH	2	31620554	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	29693589	31620554	211578819	6	12425											
CHL1	10752	broad.mit.edu	37	3	440026	440026	+	Missense_Mutation	SNP	A	A	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:440026A>T	uc003bot.3	+	24	3853	c.3211A>T	c.(3211-3213)Aat>Tat	p.N1071Y	CHL1_uc003bou.3_Missense_Mutation_p.N1055Y|CHL1_uc003bow.2_Missense_Mutation_p.N1055Y|CHL1_uc011asi.2_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1055					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.D1070N(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)		TTGGGGCGATAATGATAGCAT	0.383													T	440026	A	T	440026	3	4	179	1	0	0	0	0	1	0	0	0	3349	362	13	5	3301	5	CHL1	3	440026	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08		440026	197582404	7	12426											
FGD5	152273	broad.mit.edu	37	3	14861539	14861539	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:14861539G>A	uc003bzc.3	+	0	1071	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	FGD5_uc011avk.2_Missense_Mutation_p.A321T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	321	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGATGAGTCCGCCGAGGAGAG	0.552													A	14861539	G	A	14861539	3	1	179	1	0	0	0	0	1	0	0	0	5836	1087	38	1	963	1	FGD5	3	14861539	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	14421513	14861539	183160891	8	12427											
VILL	50853	broad.mit.edu	37	3	38035909	38035909	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:38035909A>G	uc003chj.3	+	3	579	c.293A>G	c.(292-294)cAg>cGg	p.Q98R	VILL_uc003chk.1_Missense_Mutation_p.Q98R|VILL_uc003chl.3_Missense_Mutation_p.Q98R|VILL_uc010hgu.3_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	98					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CGCGAGGCGCAGGGCCACGAG	0.721													G	38035909	A	G	38035909	3	3	179	1	0	0	0	0	1	0	0	0	17162	188	7	4	303	4	VILL	3	38035909	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08	23174370	38035909	159986521	9	12428											
NPRL2	10641	broad.mit.edu	37	3	50385755	50385755	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:50385755G>A	uc003daj.1	-	7	1210	c.807C>T	c.(805-807)acC>acT	p.T269T	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	269					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TACCTTGCTTGGTCACGTAGG	0.577													A	50385755	G	A	50385755	2	1	179	1	0	0	0	0	0	0	0	1	10597	1335	47	3		3	NPRL2	3	50385755	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	12349846	50385755	147636675	10	12429											
STXBP5L	9515	broad.mit.edu	37	3	120833881	120833881	+	Missense_Mutation	SNP	A	A	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:120833881A>G	uc003eec.4	+	5	720	c.580A>G	c.(580-582)Atc>Gtc	p.I194V	STXBP5L_uc011bji.2_Missense_Mutation_p.I194V	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	194					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGGATATGTTATCATGTGGAA	0.318													G	120833881	A	G	120833881	3	3	179	1	0	0	0	0	1	0	0	0	15356	449	16	4	598	4	STXBP5L	3	120833881	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08	70448126	120833881	77188549	11	12430											
SI	6476	broad.mit.edu	37	3	164730787	164730787	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:164730787G>A	uc003fei.3	-	33	4106	c.4043C>T	c.(4042-4044)aCg>aTg	p.T1348M		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1348	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			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)	TTCATCTTCCGTTAGAGTTTT	0.323										HNSCC(35;0.089)			A	164730787	G	A	164730787	3	1	179	1	0	0	0	0	1	0	0	0	14297	1145	40	1	1500	1	SI	3	164730787	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	43896906	164730787	33291643	12	12431											
DGKQ	1609	broad.mit.edu	37	4	956666	956666	+	Silent	SNP	C	C	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:956666C>A	uc003gbw.3	-	16	2003	c.1929G>T	c.(1927-1929)gtG>gtT	p.V643V	DGKQ_uc010ibn.3_Silent_p.V630V	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	643	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCACCACACACCAGCACCC	0.682													A	956666	C	A	956666	2	1	179	1	0	0	0	0	0	0	0	1	4473	465	17	5		5	DGKQ	4	956666	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08		956666	190197610	13	12432											
PRKG2	5593	broad.mit.edu	37	4	82056416	82056416	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:82056416C>T	uc003hmh.2	-	12	1682	c.1669G>A	c.(1669-1671)Gtt>Att	p.V557I	PRKG2_uc011ccf.1_Missense_Mutation_p.V137I|PRKG2_uc011ccg.1_Missense_Mutation_p.V137I|PRKG2_uc011cch.1_Missense_Mutation_p.V528I	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	557	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACACAAGCAACGCAGAATTTG	0.413													T	82056416	C	T	82056416	3	4	179	1	0	0	0	0	1	0	0	0	12523	536	19	1	643	1	PRKG2	4	82056416	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	81099750	82056416	109097860	14	12433											
FAT4	79633	broad.mit.edu	37	4	126372061	126372061	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:126372061G>A	uc003ifj.4	+	8	9890	c.9890G>A	c.(9889-9891)cGt>cAt	p.R3297H	FAT4_uc011cgp.2_Missense_Mutation_p.R1595H|FAT4_uc003ifi.1_Missense_Mutation_p.R775H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3297	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TATGTGCCCCGTTTTGTTTCC	0.403													A	126372061	G	A	126372061	3	1	179	1	0	0	0	0	1	0	0	0	5692	1145	40	1	9924	1	FAT4	4	126372061	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	44315645	126372061	64782215	15	12434											
DCHS2	54798	broad.mit.edu	37	4	155241880	155241880	+	Silent	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:155241880C>T	uc003inw.2	-	13	3306	c.3306G>A	c.(3304-3306)acG>acA	p.T1102T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1102	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAATGGATTCGTGCCAGGGT	0.453													T	155241880	C	T	155241880	2	4	179	1	0	0	0	0	0	0	0	1	4288	871	31	2		2	DCHS2	4	155241880	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	28869819	155241880	35912396	16	12435											
KIAA1430	57587	broad.mit.edu	37	4	186111564	186111564	+	Missense_Mutation	SNP	T	T	C			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:186111564T>C	uc003ixf.4	-	1	934	c.787A>G	c.(787-789)Att>Gtt	p.I263V	KIAA1430_uc003ixg.3_Missense_Mutation_p.I263V	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	263										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AGAGGGCTAATGTCTGGAGTT	0.398													C	186111564	T	C	186111564	3	2	179	1	0	0	0	0	1	0	0	0	8232	1464	51	4	827	4	KIAA1430	4	186111564	Missense_Mutation	SNP	T	TCGA-26-5139-01A-01D-1486-08	30869684	186111564	5042712	17	12436											
CDH18	1016	broad.mit.edu	37	5	19544032	19544032	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:19544032G>A	uc003jgd.3	-	8	1870	c.1336C>T	c.(1336-1338)Ctc>Ttc	p.L446F	CDH18_uc011cnm.2_Missense_Mutation_p.L446F|CDH18_uc003jgc.3_Missense_Mutation_p.L446F|CDH18_uc021xwu.1_Missense_Mutation_p.L446F	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	446	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTCTGTCGAGAACCTTTGTA	0.363													A	19544032	G	A	19544032	3	1	179	1	0	0	0	0	1	0	0	0	3103	942	33	3	1056	3	CDH18	5	19544032	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08		19544032	161371228	18	12437											
PIK3R1	5295	broad.mit.edu	37	5	67591247	67591249	+	Splice_Site	DEL	GGT	GGT	-			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:67591247_67591249delGGT	uc003jva.3	+	14	2326	c.1746_splice	c.e14-1	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTGTTTTTCAGGTGGTTGACTCA	0.365			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591249	GGT	-	67591247	8	5	179	1	0	1	0	1	0	0	1	0	11918	1014	35	0	1925	0	PIK3R1	5	67591247	Splice_Site	DEL	GGT	TCGA-26-5139-01A-01D-1486-08	48047215	67591247	113324013	19	12438											
CDK7	1022	broad.mit.edu	37	5	68555711	68555711	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:68555711G>A	uc003jvs.4	+	6	656	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	CDK7_uc021xzo.1_Missense_Mutation_p.A159T|CDK7_uc003jvt.4_Missense_Mutation_p.A118T	NM_001799	NP_001790	P50613	CDK7_HUMAN	Homo sapiens cyclin-dependent kinase 7 (CDK7), mRNA.	159	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TTTTGGCCTGGCCAAATCTTT	0.388								Nucleotide excision repair (NER)					A	68555711	G	A	68555711	3	1	179	1	0	0	0	0	1	0	0	0	3149	1203	42	3	501	3	CDK7	5	68555711	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	964464	68555711	112359549	20	12439											
FAM13B	51306	broad.mit.edu	37	5	137275998	137275998	+	Silent	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:137275998C>T	uc003lbz.2	-	22	3198	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	FAM13B_uc003lcb.2_Silent_p.E764E|FAM13B_uc003lca.2_Silent_p.E860E|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.3_3'UTR|PKD2L2_uc003lby.3_Intron|PKD2L2_uc011cyi.1_3'UTR	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	888					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ACTCTCTGTACTCCTCAAGCA	0.353													T	137275998	C	T	137275998	2	4	179	1	0	0	0	0	0	0	0	1	5453	564	20	3		3	FAM13B	5	137275998	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	68720287	137275998	43639262	21	12440											
PREP	5550	broad.mit.edu	37	6	105800946	105800946	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr6:105800946C>T	uc003prc.3	-	6	957	c.724G>A	c.(724-726)Gat>Aat	p.D242N		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	242					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CGGCCATCATCAGATAACTAA	0.353													T	105800946	C	T	105800946	3	4	179	1	0	0	0	0	1	0	0	0	12474	826	29	3	1444	3	PREP	6	105800946	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		105800946	65314121	22	12441											
SLC29A4	222962	broad.mit.edu	37	7	5340251	5340251	+	Silent	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:5340251C>T	uc003sod.3	+	9	1569	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	SLC29A4_uc003soc.3_Silent_p.L470L|SLC29A4_uc003soe.3_Silent_p.L456L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	470					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCCATGATCCTGGCGGCAGG	0.706													T	5340251	C	T	5340251	2	4	179	1	0	0	0	0	0	0	0	1	14537	680	24	3		3	SLC29A4	7	5340251	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08		5340251	153798412	23	12442											
DNAH11	8701	broad.mit.edu	37	7	21641054	21641054	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:21641054G>A	uc003svc.3	+	17	3497	c.3466G>A	c.(3466-3468)Gga>Aga	p.G1156R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1156	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACAGATTCCGGACTTCAGAG	0.343									Kartagener syndrome				A	21641054	G	A	21641054	3	1	179	1	0	0	0	0	1	0	0	0	4599	1117	39	2	3536	2	DNAH11	7	21641054	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	16300803	21641054	137497609	24	12443											
EGFR	1956	broad.mit.edu	37	7	55220278	55220278	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:55220278G>A	uc003tqk.3	+	5	914	c.668G>A	c.(667-669)tGc>tAc	p.C223Y	EGFR_uc003tqh.3_Missense_Mutation_p.C223Y|EGFR_uc003tqi.3_Missense_Mutation_p.C223Y|EGFR_uc003tqj.3_Missense_Mutation_p.C223Y|EGFR_uc022adm.1_Missense_Mutation_p.C223Y|EGFR_uc010kzg.2_Missense_Mutation_p.C178Y|EGFR_uc022adn.1_Missense_Mutation_p.C178Y|EGFR_uc011kco.2_Missense_Mutation_p.C170Y|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	223					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R222C(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCGGGCGCTGCCGTGGCAAG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55220278	G	A	55220278	3	1	179	1	0	0	0	0	1	0	0	0	4967	1319	46	3	690	3	EGFR	7	55220278	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	33579224	55220278	103918385	25	12444											
EGFR	1956	broad.mit.edu	37	7	55238870	55238870	+	Missense_Mutation	SNP	G	G	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:55238870G>T	uc003tqk.3	+	15	2129	c.1883G>T	c.(1882-1884)tGc>tTc	p.C628F	EGFR_uc022adm.1_Missense_Mutation_p.C628F|EGFR_uc010kzg.2_Missense_Mutation_p.C583F|EGFR_uc022adn.1_Missense_Mutation_p.C583F|EGFR_uc011kco.2_Missense_Mutation_p.C575F|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	628					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCTACAGATGCACTGGGCCA	0.393		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55238870	G	T	55238870	3	4	179	1	0	0	0	0	1	0	0	0	4967	1319	46	5	2209	5	EGFR	7	55238870	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	18592	55238870	103899793	26	12445											
POM121C	100101267	broad.mit.edu	37	7	75068439	75068439	+	Silent	SNP	G	G	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:75068439G>T	uc003udk.4	-	5	1176	c.291C>A	c.(289-291)ccC>ccA	p.P97P	POM121C_uc010lde.1_Silent_p.P339P	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	339	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAAAAGAAGCGGGGACTCCAC	0.468													T	75068439	G	T	75068439	2	4	179	1	0	0	0	0	0	0	0	1	12240	1103	39	5		5	POM121C	7	75068439	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	19829569	75068439	84070224	27	12446											
MYOM2	9172	broad.mit.edu	37	8	2005570	2005570	+	Missense_Mutation	SNP	G	G	A	rs147661043		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:2005570G>A	uc003wpx.4	+	3	506	c.368G>A	c.(367-369)cGc>cAc	p.R123H	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	123					muscle contraction	myosin filament	structural constituent of muscle	p.R123H(4)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCCAGGCCCGCGACAAGCTG	0.617													A	2005570	G	A	2005570	3	1	179	1	0	0	0	0	1	0	0	0	10092	1087	38	1	378	1	MYOM2	8	2005570	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08		2005570	144358452	28	12447											
CHRNB3	1142	broad.mit.edu	37	8	42587374	42587374	+	Silent	SNP	C	C	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:42587374C>A	uc003xpi.1	+	4	1052	c.924C>A	c.(922-924)acC>acA	p.T308T		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	308					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTTTGTGACCCTGTCCATCA	0.448													A	42587374	C	A	42587374	2	1	179	1	0	0	0	0	0	0	0	1	3392	610	22	5		5	CHRNB3	8	42587374	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	40581804	42587374	103776648	29	12448											
KCNV1	27012	broad.mit.edu	37	8	110984560	110984560	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:110984560G>A	uc003ynr.4	-	1	1722	c.918C>T	c.(916-918)aaC>aaT	p.N306N	KCNV1_uc010mcw.3_Silent_p.N306N	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	306						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGCGCCCCACGTTCTCCAGCT	0.532													A	110984560	G	A	110984560	2	1	179	1	0	0	0	0	0	0	0	1	8094	1136	40	1		1	KCNV1	8	110984560	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	68397186	110984560	35379462	30	12449											
GCNT1	2650	broad.mit.edu	37	9	79117571	79117571	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr9:79117571G>A	uc022bif.1	+	0	274	c.274G>A	c.(274-276)Gac>Aac	p.D92N	GCNT1_uc010mpf.3_Missense_Mutation_p.D92N|GCNT1_uc010mpg.3_Missense_Mutation_p.D92N|GCNT1_uc010mph.3_Missense_Mutation_p.D92N|GCNT1_uc004akf.4_Missense_Mutation_p.D92N|GCNT1_uc010mpi.3_Missense_Mutation_p.D92N|GCNT1_uc004akh.4_Missense_Mutation_p.D92N	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	92	Stem region (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GACACCTGACGACTATATAAA	0.393													A	79117571	G	A	79117571	3	1	179	1	0	0	0	0	1	0	0	0	6300	1058	37	2	276	2	GCNT1	9	79117571	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08		79117571	62095860	31	12450											
OR4C46	119749	broad.mit.edu	37	11	51516009	51516009	+	Missense_Mutation	SNP	C	C	T	rs137991158		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr11:51516009C>T	uc010ric.2	+	0	728	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCCCACATCACGGTTGTCATC	0.468													T	51516009	C	T	51516009	3	4	179	1	0	0	0	0	1	0	0	0	11051	536	19	1	730	1	OR4C46	11	51516009	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		51516009	83490507	32	12451											
LRRC23	10233	broad.mit.edu	37	12	7021983	7021983	+	Missense_Mutation	SNP	C	C	T	rs78482853	by1000genomes	TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:7021983C>T	uc001qrt.4	+	6	1240	c.848C>T	c.(847-849)aCg>aTg	p.T283M	LRRC23_uc001qrp.3_Missense_Mutation_p.T283M|LRRC23_uc001qrq.3_Intron|LRRC23_uc001qrs.3_Intron|LRRC23_uc009zfh.3_Intron|ENO2_uc001qru.1_5'Flank|ENO2_uc009zfi.1_5'Flank|ENO2_uc010sfq.1_5'Flank|ENO2_uc001qrv.1_5'Flank	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	283	LRRCT.									NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AACCCATGCACGGACGAAACC	0.602													T	7021983	C	T	7021983	3	4	179	1	0	0	0	0	1	0	0	0	8978	536	19	1	870	1	LRRC23	12	7021983	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		7021983	126829912	33	12452											
PTPN6	5777	broad.mit.edu	37	12	7061224	7061224	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:7061224G>A	uc001qsb.2	+	2	452	c.210G>A	c.(208-210)gcG>gcA	p.A70A	PTPN6_uc001qsa.1_Silent_p.A72A|PTPN6_uc010sfr.1_Silent_p.A31A|PTPN6_uc009zfl.1_Silent_p.A70A|PTPN6_uc010sfs.1_Silent_p.A58A	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	70	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|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|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						AGAAGTTTGCGACTCTGACAG	0.587													A	7061224	G	A	7061224	2	1	179	1	0	0	0	0	0	0	0	1	12792	1045	37	2		2	PTPN6	12	7061224	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	39241	7061224	126790671	34	12453											
ADAMTS20	80070	broad.mit.edu	37	12	43823483	43823483	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:43823483G>A	uc010skx.2	-	23	3426	c.3426C>T	c.(3424-3426)acC>acT	p.T1142T	ADAMTS20_uc001rno.1_Intron|ADAMTS20_uc001rnp.1_Silent_p.T296T	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1142						proteinaceous extracellular matrix	zinc ion binding	p.A1141S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAATAAAGCGGTCTCAAGTT	0.338													A	43823483	G	A	43823483	2	1	179	1	0	0	0	0	0	0	0	1	266	1103	39	2		2	ADAMTS20	12	43823483	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	36762259	43823483	90028412	35	12454											
GALNT4	8693	broad.mit.edu	37	12	89917757	89917757	+	Silent	SNP	G	G	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:89917757G>T	uc001tbd.3	-	0	827	c.570C>A	c.(568-570)atC>atA	p.I190I	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Silent_p.I187I|GALNT4_uc010suo.2_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	190	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CAAGATTGCTGATGTAAGTTT	0.458											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	89917757	G	T	89917757	2	4	179	1	0	0	0	0	0	0	0	1	6215	1280	45	5		5	GALNT4	12	89917757	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	46094274	89917757	43934138	36	12455											
RIC8B	55188	broad.mit.edu	37	12	107177813	107177814	+	Frame_Shift_Ins	INS	-	-	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:107177813_107177814insA	uc001tlw.3	+	1	248_249	c.123_124insA	c.(121-126)gataaafs	p.D41fs	RIC8B_uc001tlx.3_Frame_Shift_Ins_p.D41fs|RIC8B_uc001tly.3_5'UTR|RIC8B_uc001tlz.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	41					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAGATGAAGATAAAAGAAAGGT	0.351													A	107177814	-	A	107177813	7	5	179	1	0	1	1	0	0	0	0	0	13356	1403	49	0	129	0	RIC8B	12	107177813	Frame_Shift_Ins	INS	-	TCGA-26-5139-01A-01D-1486-08	17260056	107177813	26674082	37	12456											
USP30	84749	broad.mit.edu	37	12	109495849	109495849	+	Silent	SNP	C	C	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:109495849C>A	uc010sxi.2	+	2	416	c.312C>A	c.(310-312)tcC>tcA	p.S104S	USP30_uc001tnu.4_Silent_p.S73S	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	104					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCCAGTACTCCAGGGATCAGA	0.478													A	109495849	C	A	109495849	2	1	179	1	0	0	0	0	0	0	0	1	17058	581	21	5		5	USP30	12	109495849	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	2318036	109495849	24356046	38	12457											
CCDC60	160777	broad.mit.edu	37	12	119773039	119773039	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:119773039C>T	uc001txe.3	+	0	523	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	20										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGGGCTGTCCGGCCCTTTTA	0.502													T	119773039	C	T	119773039	3	4	179	1	0	0	0	0	1	0	0	0	2831	643	23	2	60	2	CCDC60	12	119773039	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	10277190	119773039	14078856	39	12458											
EXD1	161829	broad.mit.edu	37	15	41501708	41501708	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr15:41501708G>A	uc010ucv.2	-	6	797	c.525C>T	c.(523-525)tgC>tgT	p.C175C	EXD1_uc001znk.3_Silent_p.C117C	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	117					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.L175M(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CCTGCAGCCAGCACAGTTTGC	0.373													A	41501708	G	A	41501708	2	1	179	1	0	0	0	0	0	0	0	1	5297	963	34	3		3	EXD1	15	41501708	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08		41501708	61029684	40	12459											
PKD1L2	114780	broad.mit.edu	37	16	81175094	81175094	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr16:81175094C>G	uc002fgh.1	-	30	5225	c.5225G>C	c.(5224-5226)aGt>aCt	p.S1742T	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1742					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			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						CCAGGGGCCACTCCGTGCCGC	0.587													G	81175094	C	G	81175094	3	3	179	1	0	0	0	0	1	0	0	0	11965	565	20	5	2205	5	PKD1L2	16	81175094	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		81175094	9179659	41	12460											
POLR2A	5430	broad.mit.edu	37	17	7417217	7417217	+	Frame_Shift_Del	DEL	T	T	-			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr17:7417217delT	uc002ghf.4	+	28	6020	c.5634delT	c.(5632-5634)agtfs	p.S1878fs		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1878	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCCTACCAGTcccacctatt	0.527													-	7417217	T	-	7417217	7	5	179	1	0	1	0	1	0	0	0	0	12214	1664	58	0	5748	0	POLR2A	17	7417217	Frame_Shift_Del	DEL	T	TCGA-26-5139-01A-01D-1486-08		7417217	73777993	42	12461											
AZI1	22994	broad.mit.edu	37	17	79164553	79164553	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr17:79164553C>T	uc002jzp.1	-	23	3202	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	AZI1_uc002jzm.1_Missense_Mutation_p.R433H|AZI1_uc002jzn.1_Missense_Mutation_p.R998H|AZI1_uc002jzo.1_Missense_Mutation_p.R962H|AZI1_uc010wum.1_Missense_Mutation_p.R965H|AZI1_uc002jzq.3_Missense_Mutation_p.R149H	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	1001					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAACTCCTGGCGGATCACCTG	0.692													T	79164553	C	T	79164553	3	4	179	1	0	0	0	0	1	0	0	0	1240	768	27	1	261	1	AZI1	17	79164553	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	71747336	79164553	2030657	43	12462											
DSG4	147409	broad.mit.edu	37	18	28989414	28989414	+	Splice_Site	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:28989414G>A	uc002kwr.2	+	13	2069	c.1934_splice	c.e13-1	p.L645_splice	DSG4_uc002kwq.2_Splice_Site_p.L645_splice	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	645					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			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)			TTCTTGGGCAGTGGCTCCACT	0.498													A	28989414	G	A	28989414	5	1	179	1	0	0	0	0	0	0	1	0	4779	1043	36	3	1983	3	DSG4	18	28989414	Splice_Site	SNP	G	TCGA-26-5139-01A-01D-1486-08		28989414	49087834	44	12463											
C18orf34	374864	broad.mit.edu	37	18	30950074	30950074	+	Silent	SNP	G	G	C			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:30950074G>C	uc010xbr.1	-	4	430	c.288C>G	c.(286-288)gtC>gtG	p.V96V	C18orf34_uc002kxn.2_Silent_p.V96V|C18orf34_uc010dmf.1_Silent_p.V96V|C18orf34_uc002kxo.2_Silent_p.V96V|C18orf34_uc002kxp.3_Silent_p.V96V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	96										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TCATTTTGTTGACACAAGGTG	0.378													C	30950074	G	C	30950074	2	2	179	1	0	0	0	0	0	0	0	1	1902	1277	45	5		5	C18orf34	18	30950074	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	1960660	30950074	47127174	45	12464											
SERPINB13	5275	broad.mit.edu	37	18	61262397	61262397	+	Silent	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:61262397C>T	uc010xep.2	+	6	945	c.777C>T	c.(775-777)aaC>aaT	p.N259N	SERPINB13_uc002ljc.3_Silent_p.N250N|SERPINB13_uc002ljd.3_Silent_p.N114N|SERPINB13_uc010xeq.2_Silent_p.N71N|SERPINB13_uc010xer.2_Silent_p.N71N	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	250					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.N250N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCTGCCCAACGACATCGATG	0.458													T	61262397	C	T	61262397	2	4	179	1	0	0	0	0	0	0	0	1	14100	535	19	1		1	SERPINB13	18	61262397	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	30312323	61262397	16814851	46	12465											
TJP3	27134	broad.mit.edu	37	19	3728405	3728405	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:3728405C>T	uc010xhv.2	+	0	32	c.32C>T	c.(31-33)cCc>cTc	p.P11L	TJP3_uc010xhs.2_Intron|TJP3_uc010xht.2_Intron|TJP3_uc010xhu.2_Intron|TJP3_uc010xhw.2_Missense_Mutation_p.P11L	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	0	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATCTTCCCCGCTCCCCTC	0.627													T	3728405	C	T	3728405	3	4	179	1	0	0	0	0	1	0	0	0	15928	623	22	3	34	3	TJP3	19	3728405	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		3728405	55400578	47	12466											
CD70	970	broad.mit.edu	37	19	6586314	6586314	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:6586314C>T	uc010xjf.1	-	2	449	c.299G>A	c.(298-300)cGt>cAt	p.R100H	CD70_uc002mfi.3_Missense_Mutation_p.R100H	NM_001252	NP_001243	P32970	CD70_HUMAN	Homo sapiens CD70 molecule (CD70), mRNA.	100					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						GATGCCATCACGATGGATACG	0.642													T	6586314	C	T	6586314	3	4	179	1	0	0	0	0	1	0	0	0	3033	536	19	1	286	1	CD70	19	6586314	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	2857909	6586314	52542669	48	12467											
RETN	56729	broad.mit.edu	37	19	7734784	7734784	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:7734784G>A	uc002mhg.1	+	3	233	c.196_splice	c.e3+1	p.G66_splice	RETN_uc002mhf.1_Splice_Site_p.G66_splice|RETN_uc010dvm.1_Intron	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN	Homo sapiens resistin (RETN), transcript variant 2, mRNA.	66							hormone activity			ovary(1)	1						TTGCCCCCGAGGTGAGTGCAG	0.627													A	7734784	G	A	7734784	3	1	179	1	0	0	0	0	1	0	0	0	13236	1014	35	3	202	3	RETN	19	7734784	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	1148470	7734784	51394199	49	12468											
PODNL1	79883	broad.mit.edu	37	19	14046601	14046601	+	Missense_Mutation	SNP	C	C	T	rs147712582	byFrequency	TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:14046601C>T	uc002mxr.3	-	4	722	c.448G>A	c.(448-450)Gcg>Acg	p.A150T	PODNL1_uc010xni.2_Missense_Mutation_p.A68T|PODNL1_uc010xnj.2_Missense_Mutation_p.A148T|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	150	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GCCAGATCCGCGACACGGAGG	0.667													T	14046601	C	T	14046601	3	4	179	1	0	0	0	0	1	0	0	0	12179	768	27	1	1106	1	PODNL1	19	14046601	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	6311817	14046601	45082382	50	12469											
FCGBP	8857	broad.mit.edu	37	19	40395990	40395990	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:40395990G>A	uc002omp.4	-	14	7415	c.7407C>T	c.(7405-7407)ttC>ttT	p.F2469F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2469	VWFD 6.					extracellular region	protein binding	p.R2468H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCATGAAGTCGAAGCGGCGGC	0.672													A	40395990	G	A	40395990	2	1	179	1	0	0	0	0	0	0	0	1	5778	1049	37	2		2	FCGBP	19	40395990	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	26349389	40395990	18732993	51	12470											
PRR12	57479	broad.mit.edu	37	19	50105110	50105110	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:50105110G>A	uc002poo.4	+	5	4708	c.4708G>A	c.(4708-4710)Gga>Aga	p.G1570R		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	749							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGAGAGTGGCGGAGAGGGCAT	0.647													A	50105110	G	A	50105110	3	1	179	1	0	0	0	0	1	0	0	0	12584	1117	39	2	4730	2	PRR12	19	50105110	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	9709120	50105110	9023873	52	12471											
TMPRSS6	164656	broad.mit.edu	37	22	37482392	37482392	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr22:37482392C>T	uc003aqt.1	-	7	966	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V311I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V302I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	311	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCTTCCAGACGACCGCCATG	0.667													T	37482392	C	T	37482392	3	4	179	1	0	0	0	0	1	0	0	0	16248	536	19	1	1548	1	TMPRSS6	22	37482392	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		37482392	13822174	53	12472											
FAM47B	170062	broad.mit.edu	37	X	34962542	34962542	+	Missense_Mutation	SNP	C	C	T			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:34962542C>T	uc004ddi.2	+	0	1630	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	532								p.R532C(4)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACAGGAGACGCCGGGCGGC	0.498													T	34962542	C	T	34962542	3	4	179	1	0	0	0	0	1	0	0	0	5570	536	19	1	1596	1	FAM47B	23	34962542	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		34962542	120308018	54	12473											
WNK3	65267	broad.mit.edu	37	X	54319681	54319681	+	Silent	SNP	T	T	C			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:54319681T>C	uc004dtc.2	-	8	2212	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S	WNK3_uc004dtd.2_Silent_p.S591S	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	591					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCGTTTGATTTGAGGAATAGG	0.398													C	54319681	T	C	54319681	2	2	179	1	0	0	0	0	0	0	0	1	17376	1799	63	4		4	WNK3	23	54319681	Silent	SNP	T	TCGA-26-5139-01A-01D-1486-08	19357139	54319681	100950879	55	12474											
LAS1L	81887	broad.mit.edu	37	X	64744052	64744052	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:64744052G>A	uc004dwa.2	-	9	1275	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	LAS1L_uc004dwc.2_Missense_Mutation_p.T378M|LAS1L_uc004dwd.2_Missense_Mutation_p.T336M	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	395						MLL1 complex|nucleolus	protein binding	p.T395T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TAGGGCCTGCGTGAAGTTCTG	0.567													A	64744052	G	A	64744052	3	1	179	1	0	0	0	0	1	0	0	0	8636	1145	40	1	1040	1	LAS1L	23	64744052	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	10424371	64744052	90526508	56	12475											
BTK	695	broad.mit.edu	37	X	100611220	100611220	+	Silent	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:100611220G>A	uc010nno.2	-	14	1721	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Silent_p.G32G|BTK_uc004ehg.2_Silent_p.G462G|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.3_Silent_p.G462G	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	462	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGTGCAGACGCCATACAACT	0.522									Agammaglobulinemia, X-linked				A	100611220	G	A	100611220	2	1	179	1	0	0	0	0	0	0	0	1	1557	1074	38	1		1	BTK	23	100611220	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	35867168	100611220	54659340	57	12476											
SOX3	6658	broad.mit.edu	37	X	139586734	139586734	+	Missense_Mutation	SNP	C	C	G			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:139586734C>G	uc004fbd.1	-	0	492	c.492G>C	c.(490-492)atG>atC	p.M164I		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	164					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CAGAATTGTGCATCTTGGGGT	0.622													G	139586734	C	G	139586734	3	3	179	1	0	0	0	0	1	0	0	0	14951	710	25	5	852	5	SOX3	23	139586734	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	38975514	139586734	15683826	58	12477											
PNMA5	114824	broad.mit.edu	37	X	152159506	152159506	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:152159506G>A	uc022chn.1	-	0	637	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PNMA5_uc010ntx.3_Missense_Mutation_p.R213W|PNMA5_uc010ntw.3_Missense_Mutation_p.R213W|PNMA5_uc004fgy.4_Missense_Mutation_p.R213W|PNMA5_uc022chm.1_Missense_Mutation_p.R213W	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	213					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCACCCGCATGATTGAC	0.527													A	152159506	G	A	152159506	3	1	179	1	0	0	0	0	1	0	0	0	12156	1086	38	1	713	1	PNMA5	23	152159506	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	12572772	152159506	3111054	59	12478											
F8	2157	broad.mit.edu	37	X	154185438	154185438	+	Missense_Mutation	SNP	G	G	A			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:154185438G>A	uc004fmt.3	-	10	1717	c.1546C>T	c.(1546-1548)Cat>Tat	p.H516Y		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	516	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCTTCAAATGTTTTACACCT	0.378													A	154185438	G	A	154185438	3	1	179	1	0	0	0	0	1	0	0	0	5350	1377	48	3	5601	3	F8	23	154185438	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	2025932	154185438	1085122	60	12479											
UBR4	23352	broad.mit.edu	37	1	19504071	19504071	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:19504071T>C	uc001bbi.3	-	18	2525	c.2521A>G	c.(2521-2523)Agc>Ggc	p.S841G	UBR4_uc001bbm.1_Missense_Mutation_p.S52G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	841					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGTTGACGCTCAACTCCTGG	0.507													C	19504071	T	C	19504071	3	2	180	1	0	0	0	0	1	0	0	0	16901	1551	54	4	13382	4	UBR4	1	19504071	Missense_Mutation	SNP	T	TCGA-26-6173-01A-11D-1845-08		19504071	229746550	1	12480											
ZNF643	65243	broad.mit.edu	37	1	40919923	40919923	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:40919923G>T	uc001cfn.2	+	1	473	c.176G>T	c.(175-177)aGt>aTt	p.S59I	ZNF643_uc001cfl.2_Intron|ZNF643_uc001cfm.2_5'UTR	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			AGTTTAGAGAGTAGAGTGACC	0.493													T	40919923	G	T	40919923	3	4	180	1	0	0	0	0	1	0	0	0	18056	1029	36	5	182	5	ZNF643	1	40919923	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	21415852	40919923	208330698	2	12481											
HRNR	388697	broad.mit.edu	37	1	152192865	152192865	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152192865C>T	uc001ezt.1	-	2	1316	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	414					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGTTGGCCGCGGCCTGAA	0.632													T	152192865	C	T	152192865	3	4	180	1	0	0	0	0	1	0	0	0	7359	652	23	2	7316	2	HRNR	1	152192865	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08	111272942	152192865	97057756	3	12482											
FLG	2312	broad.mit.edu	37	1	152283171	152283171	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152283171G>C	uc001ezu.1	-	2	4227	c.4191C>G	c.(4189-4191)aaC>aaG	p.N1397K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1397	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GTCCCTCACTGTTAGTGACCT	0.567									Ichthyosis				C	152283171	G	C	152283171	3	2	180	1	0	0	0	0	1	0	0	0	5922	1368	48	5	7998	5	FLG	1	152283171	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	90306	152283171	96967450	4	12483											
LCE1C	353133	broad.mit.edu	37	1	152777634	152777634	+	Silent	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152777634G>A	uc021ozi.1	-	0	321	c.321C>T	c.(319-321)ggC>ggT	p.G107G	LCE1C_uc001fap.1_Silent_p.G107G	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	107	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCCCCGCCACAGCAGC	0.662													A	152777634	G	A	152777634	2	1	180	1	0	0	0	0	0	0	0	1	8661	1074	38	1		1	LCE1C	1	152777634	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08	494463	152777634	96472987	5	12484											
OR10R2	343406	broad.mit.edu	37	1	158449884	158449884	+	Frame_Shift_Del	DEL	A	A	-			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:158449884delA	uc010pik.2	+	0	217	c.217delA	c.(217-219)aaafs	p.K73fs	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCACCTGGATAAAAGCCTCCA	0.418													-	158449884	A	-	158449884	7	5	180	1	0	1	0	1	0	0	0	0	10917	363	13	0	219	0	OR10R2	1	158449884	Frame_Shift_Del	DEL	A	TCGA-26-6173-01A-11D-1845-08	5672250	158449884	90800737	6	12485											
ARHGAP15	55843	broad.mit.edu	37	2	144381721	144381721	+	Silent	SNP	C	C	T	rs138120208		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr2:144381721C>T	uc002tvm.4	+	11	1174	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	ARHGAP15_uc002tvn.3_Silent_p.D107D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	341	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448													T	144381721	C	T	144381721	2	4	180	1	0	0	0	0	0	0	0	1	866	535	19	1		1	ARHGAP15	2	144381721	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08		144381721	98817652	7	12486											
ZDBF2	57683	broad.mit.edu	37	2	207174442	207174442	+	Silent	SNP	G	G	A	rs140337696	by1000genomes	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr2:207174442G>A	uc002vbp.2	+	4	5440	c.5190G>A	c.(5188-5190)tcG>tcA	p.S1730S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1730							nucleic acid binding|zinc ion binding	p.R1729C(1)|p.S1730L(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAAACGTTCGAAGCTAAAAC	0.458													A	207174442	G	A	207174442	2	1	180	1	0	0	0	0	0	0	0	1	17596	1045	37	2		2	ZDBF2	2	207174442	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08	62792721	207174442	36024931	8	12487											
ITGA9	3680	broad.mit.edu	37	3	37555330	37555330	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:37555330C>A	uc003chd.3	+	8	1027	c.974C>A	c.(973-975)gCc>gAc	p.A325D	ITGA9_uc003chc.3_Missense_Mutation_p.A325D	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	325					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTGGTGGGGGCCCCCATGTTT	0.547													A	37555330	C	A	37555330	3	1	180	1	0	0	0	0	1	0	0	0	7883	739	26	5	1008	5	ITGA9	3	37555330	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		37555330	160467100	9	12488											
NBEAL2	23218	broad.mit.edu	37	3	47040321	47040321	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:47040321C>T	uc003cqp.3	+	22	3515	c.3336C>T	c.(3334-3336)gtC>gtT	p.V1112V	NBEAL2_uc010hjm.2_Silent_p.V673V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1112							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACGTGCAGGTCACGCAGACCA	0.672											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47040321	C	T	47040321	2	4	180	1	0	0	0	0	0	0	0	1	10189	813	29	3		3	NBEAL2	3	47040321	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	9484991	47040321	150982109	10	12489											
NLGN1	22871	broad.mit.edu	37	3	173525621	173525621	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:173525621C>T	uc021xhm.1	+	4	1086	c.766_splice	c.e4+1	p.G256_splice	NLGN1_uc003fio.1_Splice_Site_p.G216_splice|NLGN1_uc010hww.1_Splice_Site_p.G256_splice|NLGN1_uc003fip.1_Splice_Site_p.G216_splice	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	233					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGAGTACTCGGTAAGAAGA	0.383													T	173525621	C	T	173525621	2	4	180	1	0	0	0	0	0	0	0	1	10461	898	31	2		2	NLGN1	3	173525621	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	126485300	173525621	24496809	11	12490											
CLNK	116449	broad.mit.edu	37	4	10522452	10522452	+	Silent	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:10522452A>G	uc003gmo.4	-	14	872	c.735T>C	c.(733-735)tcT>tcC	p.S245S		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	245	Poly-Ser.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCGTGAATGAAGAACTATAAG	0.363													G	10522452	A	G	10522452	2	3	180	1	0	0	0	0	0	0	0	1	3547	59	3	4		4	CLNK	4	10522452	Silent	SNP	A	TCGA-26-6173-01A-11D-1845-08		10522452	180631824	12	12491											
SLC30A9	10463	broad.mit.edu	37	4	42080309	42080309	+	Silent	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:42080309A>G	uc003gwl.3	+	16	1775	c.1629A>G	c.(1627-1629)ggA>ggG	p.G543G	SLC30A9_uc011byx.2_Silent_p.G303G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	543					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATACTTTAGGAGCTGAAGTAG	0.299													G	42080309	A	G	42080309	2	3	180	1	0	0	0	0	0	0	0	1	14562	291	11	4		4	SLC30A9	4	42080309	Silent	SNP	A	TCGA-26-6173-01A-11D-1845-08	31557857	42080309	149073967	13	12492											
SMR3A	10879	broad.mit.edu	37	4	71255517	71255517	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:71255517C>T	uc011cas.2	+	2	273	c.192C>T	c.(190-192)ccC>ccT	p.P64P	SMR3A_uc003hfh.3_Silent_p.P64P	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	68	Pro-rich.					extracellular region		p.P64P(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCCTCCTCCCGCACCCTATG	0.602													T	71255517	C	T	71255517	2	4	180	1	0	0	0	0	0	0	0	1	14811	639	23	2		2	SMR3A	4	71255517	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	29175208	71255517	119898759	14	12493											
IRX1	79192	broad.mit.edu	37	5	3599499	3599499	+	Missense_Mutation	SNP	T	T	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:3599499T>G	uc003jde.3	+	1	489	c.437T>G	c.(436-438)cTc>cGc	p.L146R		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	146						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGGCCTGGCTCAACGAGCAC	0.637													G	3599499	T	G	3599499	3	3	180	1	0	0	0	0	1	0	0	0	7843	1551	54	5	443	5	IRX1	5	3599499	Missense_Mutation	SNP	T	TCGA-26-6173-01A-11D-1845-08		3599499	177315761	15	12494											
MAP3K1	4214	broad.mit.edu	37	5	56176540	56176540	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:56176540G>A	uc003jqw.4	+	11	2591	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	697					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.I696I(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTTTTTAGCCGCACAAGTCAG	0.398													A	56176540	G	A	56176540	3	1	180	1	0	0	0	0	1	0	0	0	9243	1087	38	1	2136	1	MAP3K1	5	56176540	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	52577041	56176540	124738720	16	12495											
CMYA5	202333	broad.mit.edu	37	5	79029879	79029879	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:79029879G>T	uc003kgc.3	+	1	5363	c.5291G>T	c.(5290-5292)gGa>gTa	p.G1764V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1764						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTAAAAAGGGAGGAAATCAA	0.413													T	79029879	G	T	79029879	3	4	180	1	0	0	0	0	1	0	0	0	3590	1174	41	5	5297	5	CMYA5	5	79029879	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	22853339	79029879	101885381	17	12496											
FAM81B	153643	broad.mit.edu	37	5	94749823	94749823	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:94749823G>A	uc003kla.1	+	3	512	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	156								p.A156T(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGAATCGCTCGCCAGGAAGTT	0.458													A	94749823	G	A	94749823	3	1	180	1	0	0	0	0	1	0	0	0	5629	1087	38	1	480	1	FAM81B	5	94749823	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	15719944	94749823	86165437	18	12497											
GABRA6	2559	broad.mit.edu	37	5	161128647	161128647	+	Silent	SNP	C	C	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:161128647C>A	uc003lyu.2	+	8	1568	c.1230C>A	c.(1228-1230)gcC>gcA	p.A410A	GABRA6_uc003lyv.2_Silent_p.A181A	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	410					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCGCCAGCCTTTGGAGGCA	0.468										TCGA Ovarian(5;0.080)			A	161128647	C	A	161128647	2	1	180	1	0	0	0	0	0	0	0	1	6165	668	24	5		5	GABRA6	5	161128647	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	66378824	161128647	19786613	19	12498											
CAP2	10486	broad.mit.edu	37	6	17543298	17543298	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr6:17543298G>A	uc003ncb.3	+	10	1376	c.1133G>A	c.(1132-1134)tGt>tAt	p.C378Y	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.C352Y|CAP2_uc011djb.2_Missense_Mutation_p.C314Y|CAP2_uc011djc.2_Missense_Mutation_p.C266Y|CAP2_uc011djd.2_Missense_Mutation_p.C118Y	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	378	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACAGACAACTGTAAAAAACTC	0.403													A	17543298	G	A	17543298	3	1	180	1	0	0	0	0	1	0	0	0	2620	1377	48	3	1171	3	CAP2	6	17543298	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		17543298	153571769	20	12499											
ROS1	6098	broad.mit.edu	37	6	117638305	117638305	+	Splice_Site	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr6:117638305C>T	uc003pxp.1	-	38	6334	c.6135_splice	c.e38+1	p.T2045_splice	ROS1_uc011ebi.1_Splice_Site	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2045	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAACTGCCTACCGTTGCCATC	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								T	117638305	C	T	117638305	5	4	180	1	0	0	0	0	0	0	1	0	13531	521	18	3	931	3	ROS1	6	117638305	Splice_Site	SNP	C	TCGA-26-6173-01A-11D-1845-08	100095007	117638305	53476762	21	12500											
DAGLB	221955	broad.mit.edu	37	7	6449599	6449599	+	Missense_Mutation	SNP	G	G	A	rs34807437		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:6449599G>A	uc003sqa.3	-	14	2058	c.1888C>T	c.(1888-1890)Ctc>Ttc	p.L630F	DAGLB_uc003spy.3_Missense_Mutation_p.L176F|DAGLB_uc003spz.3_Missense_Mutation_p.L327F|DAGLB_uc011jwt.2_Missense_Mutation_p.L444F|DAGLB_uc011jwu.2_Missense_Mutation_p.L501F|DAGLB_uc003sqb.3_Missense_Mutation_p.L349F|DAGLB_uc003sqc.3_Missense_Mutation_p.L349F|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Missense_Mutation_p.L589F	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	630					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGACCTATGAGTATTTTGCTG	0.577													A	6449599	G	A	6449599	3	1	180	1	0	0	0	0	1	0	0	0	4227	1029	36	3	134	3	DAGLB	7	6449599	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		6449599	152689064	22	12501											
FBXO24	26261	broad.mit.edu	37	7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:100198322A>G	uc011kjz.1	+	9	1725	c.1657A>G	c.(1657-1659)Atg>Gtg	p.M553V	FBXO24_uc003uvm.1_Missense_Mutation_p.M515V|FBXO24_uc003uvn.1_Missense_Mutation_p.M153V|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.M503V|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	515						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662													G	100198322	A	G	100198322	3	3	180	1	0	0	0	0	1	0	0	0	5735	333	12	4	1738	4	FBXO24	7	100198322	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	93748723	100198322	58940341	23	12502											
NOM1	64434	broad.mit.edu	37	7	156743012	156743012	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:156743012G>A	uc003wmy.3	+	0	596	c.581G>A	c.(580-582)gGt>gAt	p.G194D		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	194	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGTTGCCTCGGTTTGAACAAG	0.617													A	156743012	G	A	156743012	3	1	180	1	0	0	0	0	1	0	0	0	10530	1261	44	3	583	3	NOM1	7	156743012	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	56544690	156743012	2395651	24	12503											
CYP11B1	1584	broad.mit.edu	37	8	143960555	143960555	+	Silent	SNP	G	G	A	rs5284		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr8:143960555G>A	uc010mey.3	-	2	430	c.423C>T	c.(421-423)gaC>gaT	p.D141D	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Silent_p.D96D|CYP11B1_uc003yxj.3_Silent_p.D96D	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	96					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.D96D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTTCTCCACGTCCTCCGGCA	0.627									Familial Hyperaldosteronism type I				A	143960555	G	A	143960555	2	1	180	1	0	0	0	0	0	0	0	1	4145	1136	40	1		1	CYP11B1	8	143960555	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08		143960555	2403467	25	12504											
CACNA1B	774	broad.mit.edu	37	9	140809200	140809200	+	Silent	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr9:140809200C>T	uc004cog.3	+	4	862	c.717C>T	c.(715-717)atC>atT	p.I239I	CACNA1B_uc022bqn.1_Silent_p.I239I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	239					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.I239I(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTTTGCCATCATTGGCCTGG	0.567													T	140809200	C	T	140809200	2	4	180	1	0	0	0	0	0	0	0	1	2539	816	29	3		3	CACNA1B	9	140809200	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08		140809200	404231	26	12505											
DMBT1	1755	broad.mit.edu	37	10	124376759	124376759	+	Missense_Mutation	SNP	C	C	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr10:124376759C>G	uc001lgk.1	+	36	4593	c.4487C>G	c.(4486-4488)tCt>tGt	p.S1496C	DMBT1_uc001lgl.1_Missense_Mutation_p.S1486C|DMBT1_uc001lgm.1_Missense_Mutation_p.S868C|DMBT1_uc021qaf.1_Missense_Mutation_p.S1496C|DMBT1_uc021qag.1_Missense_Mutation_p.S1486C|DMBT1_uc021qah.1_Missense_Mutation_p.S868C|DMBT1_uc009xzz.1_Missense_Mutation_p.S1496C|DMBT1_uc010qtx.1_Missense_Mutation_p.S347C|DMBT1_uc009yab.1_Missense_Mutation_p.S199C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1496					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCAACCTCTCGTGCATCA	0.448													G	124376759	C	G	124376759	3	3	180	1	0	0	0	0	1	0	0	0	4577	913	32	5	4633	5	DMBT1	10	124376759	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		124376759	11157988	27	12506											
CKAP5	9793	broad.mit.edu	37	11	46783673	46783673	+	Silent	SNP	T	T	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:46783673T>C	uc001ndi.2	-	31	4224	c.4098A>G	c.(4096-4098)aaA>aaG	p.K1366K	CKAP5_uc009ylg.1_Silent_p.K1252K|CKAP5_uc001ndj.2_Silent_p.K1366K|CKAP5_uc001ndh.1_Silent_p.K295K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1366					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTTTAAGGCTTTTCCTGGGG	0.478													C	46783673	T	C	46783673	2	2	180	1	0	0	0	0	0	0	0	1	3445	1606	56	4		4	CKAP5	11	46783673	Silent	SNP	T	TCGA-26-6173-01A-11D-1845-08		46783673	88222843	28	12507											
OR8K3	219473	broad.mit.edu	37	11	56085805	56085805	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:56085805C>T	uc010rjf.2	+	0	23	c.23C>T	c.(22-24)aCg>aTg	p.T8M		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T8T(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AATCTAACAACGGTGAATGAA	0.413													T	56085805	C	T	56085805	3	4	180	1	0	0	0	0	1	0	0	0	11244	536	19	1	25	1	OR8K3	11	56085805	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08	9302132	56085805	78920711	29	12508											
MS4A3	932	broad.mit.edu	37	11	59828705	59828705	+	Silent	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:59828705G>A	uc001nom.3	+	1	200	c.72G>A	c.(70-72)gcG>gcA	p.A24A	MS4A3_uc001non.3_Silent_p.A24A|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	24				A -> T (in Ref. 1; AAA62319).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GCAGTGAGGCGGGACCAGAAG	0.493													A	59828705	G	A	59828705	2	1	180	1	0	0	0	0	0	0	0	1	9861	1103	39	2		2	MS4A3	11	59828705	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08	3742900	59828705	75177811	30	12509											
SIPA1	6494	broad.mit.edu	37	11	65417064	65417064	+	Missense_Mutation	SNP	A	A	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:65417064A>C	uc001ofb.2	+	10	2725	c.2558A>C	c.(2557-2559)aAc>aCc	p.N853T	SIPA1_uc010rom.1_Missense_Mutation_p.N751T|SIPA1_uc001ofd.2_Missense_Mutation_p.N853T	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	853					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTCCTGCCCAACACCACCCCG	0.642													C	65417064	A	C	65417064	3	2	180	1	0	0	0	0	1	0	0	0	14328	43	2	5	2596	5	SIPA1	11	65417064	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	5588359	65417064	69589452	31	12510											
MMP3	4314	broad.mit.edu	37	11	102709964	102709964	+	Missense_Mutation	SNP	G	G	A	rs147533686	by1000genomes	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:102709964G>A	uc001phj.1	-	6	1011	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	316	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R316C(6)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AGGGATTTGCGCCAAAAGTGC	0.403													A	102709964	G	A	102709964	3	1	180	1	0	0	0	0	1	0	0	0	9666	1087	38	1	503	1	MMP3	11	102709964	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	37292900	102709964	32296552	32	12511											
MANSC1	54682	broad.mit.edu	37	12	12483054	12483054	+	Silent	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr12:12483054G>A	uc001rai.1	-	3	1461	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	MANSC1_uc010shm.1_Silent_p.L335L|MANSC1_uc001raj.1_Silent_p.L367L	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	401						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CCAGGAGGACGAGGCCTATCA	0.488													A	12483054	G	A	12483054	2	1	180	1	0	0	0	0	0	0	0	1	9224	1045	37	2		2	MANSC1	12	12483054	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08		12483054	121368841	33	12512											
C14orf39	317761	broad.mit.edu	37	14	60945101	60945101	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr14:60945101C>A	uc001xez.4	-	4	350	c.240G>T	c.(238-240)aaG>aaT	p.K80N	C14orf39_uc010apo.3_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	80										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CACATGTTGGCTTCCAGCTAT	0.259													A	60945101	C	A	60945101	3	1	180	1	0	0	0	0	1	0	0	0	1772	796	28	5	1579	5	C14orf39	14	60945101	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		60945101	46404439	34	12513											
ZFP36L1	677	broad.mit.edu	37	14	69256954	69256954	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr14:69256954G>A	uc021rve.1	-	2	614	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	ZFP36L1_uc001xki.2_Missense_Mutation_p.P105S|ZFP36L1_uc001xkh.2_Missense_Mutation_p.P105S	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	105					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCGCCCCCGGGCTGCTTCTGG	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	69256954	G	A	69256954	3	1	180	1	0	0	0	0	1	0	0	0	17643	1203	42	3	707	3	ZFP36L1	14	69256954	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	8311853	69256954	38092586	35	12514											
ACAN	176	broad.mit.edu	37	15	89386651	89386651	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr15:89386651C>T	uc010upo.1	+	5	1197	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	ACAN_uc002bmx.3_Missense_Mutation_p.R275W|ACAN_uc010upp.1_Missense_Mutation_p.R275W|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	275					cell adhesion		hyaluronic acid binding|sugar binding	p.R274Q(1)		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)			TGAGTGCCGGCGGCTGGGTGC	0.642													T	89386651	C	T	89386651	3	4	180	1	0	0	0	0	1	0	0	0	117	759	27	1	841	1	ACAN	15	89386651	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		89386651	13144741	36	12515											
AMDHD2	51005	broad.mit.edu	37	16	2580611	2580611	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr16:2580611C>T	uc010uwc.2	+	10	1733	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	AMDHD2_uc010uwd.2_Missense_Mutation_p.R310C|CEMP1_uc002cqr.3_Missense_Mutation_p.R155H	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	0					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						AGGAGGTACGCGCCTGGCTCT	0.567													T	2580611	C	T	2580611	3	4	180	1	0	0	0	0	1	0	0	0	568	768	27	1	1716	1	AMDHD2	16	2580611	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		2580611	87774142	37	12516											
ATXN2L	11273	broad.mit.edu	37	16	28847275	28847275	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr16:28847275A>T	uc002dqy.3	+	21	3084	c.2917A>T	c.(2917-2919)Aca>Tca	p.T973S	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.T973S|ATXN2L_uc002dra.3_Missense_Mutation_p.T973S|ATXN2L_uc002drb.3_Missense_Mutation_p.T973S|ATXN2L_uc002drc.3_Missense_Mutation_p.T973S|ATXN2L_uc010vdb.2_Missense_Mutation_p.T979S|ATXN2L_uc002dre.3_Missense_Mutation_p.T973S|ATXN2L_uc002drf.3_Missense_Mutation_p.T382S|ATXN2L_uc002drg.3_Missense_Mutation_p.T256S	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	973						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AACTGGAATCACAGCAGCCCC	0.622													T	28847275	A	T	28847275	3	4	180	1	0	0	0	0	1	0	0	0	1212	159	6	5	3003	5	ATXN2L	16	28847275	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	26266664	28847275	61507478	38	12517											
MYH8	4626	broad.mit.edu	37	17	10304645	10304645	+	Nonsense_Mutation	SNP	T	T	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:10304645T>A	uc002gmm.2	-	23	3150	c.3055A>T	c.(3055-3057)Aaa>Taa	p.K1019*	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1019					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATGTTGACTTTGTCCTCCTCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10304645	T	A	10304645	4	1	180	1	0	0	0	0	0	1	0	0	10041	1821	63	5	2826	5	MYH8	17	10304645	Nonsense_Mutation	SNP	T	TCGA-26-6173-01A-11D-1845-08		10304645	70890565	39	12518											
NLE1	54475	broad.mit.edu	37	17	33463392	33463392	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:33463392A>G	uc002hiy.1	-	7	981	c.953T>C	c.(952-954)cTc>cCc	p.L318P	NLE1_uc002hiz.1_Missense_Mutation_p.L26P	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	318						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GGATCCTTGGAGGTCTTGGGG	0.567													G	33463392	A	G	33463392	3	3	180	1	0	0	0	0	1	0	0	0	10460	304	11	4	528	4	NLE1	17	33463392	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	23158747	33463392	47731818	40	12519											
EPX	8288	broad.mit.edu	37	17	56270743	56270743	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:56270743G>A	uc002ivq.3	+	2	301	c.182G>A	c.(181-183)cGg>cAg	p.R61Q		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	61					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R61W(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						ATCAAGCAGCGGCTTCGCAGC	0.612													A	56270743	G	A	56270743	3	1	180	1	0	0	0	0	1	0	0	0	5200	1116	39	2	192	2	EPX	17	56270743	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	22807351	56270743	24924467	41	12520											
XAB2	56949	broad.mit.edu	37	19	7687257	7687257	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:7687257A>G	uc002mgx.3	-	11	1603	c.1577T>C	c.(1576-1578)aTg>aCg	p.M526T		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	526					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCCAGGAACATGGCATAGTT	0.607								Direct reversal of damage;Nucleotide excision repair (NER)					G	7687257	A	G	7687257	3	3	180	1	0	0	0	0	1	0	0	0	17415	217	8	4	1022	4	XAB2	19	7687257	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08		7687257	51441726	42	12521											
NDUFA3	4696	broad.mit.edu	37	19	54609317	54609317	+	Silent	SNP	A	A	C			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:54609317A>C	uc002qde.3	+	3	190	c.163_splice	c.e3+1	p.V55_splice	NDUFA3_uc002qdf.3_Splice_Site	NM_004542	NP_004533	O95167	NDUA3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa (NDUFA3), mRNA.	55					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	ACAACTACCCAGGTGAGTGGG	0.577													C	54609317	A	C	54609317	2	2	180	1	0	0	0	0	0	0	0	1	10265	202	7	5		5	NDUFA3	19	54609317	Silent	SNP	A	TCGA-26-6173-01A-11D-1845-08	46922060	54609317	4519666	43	12522											
ZNF497	162968	broad.mit.edu	37	19	58868065	58868065	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:58868065C>T	uc002qsh.2	-	2	1220	c.937G>A	c.(937-939)Gag>Aag	p.E313K	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.E313K|ZNF497_uc021vcw.1_Missense_Mutation_p.E313K|BC023201_uc002qsj.1_5'Flank|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TGCGAGCTCTCGCGGAAAGCC	0.701													T	58868065	C	T	58868065	3	4	180	1	0	0	0	0	1	0	0	0	17943	893	31	2	563	2	ZNF497	19	58868065	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08	4258748	58868065	260918	44	12523											
NTSR1	4923	broad.mit.edu	37	20	61340986	61340986	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr20:61340986G>A	uc002ydf.3	+	0	798	c.427G>A	c.(427-429)Ggc>Agc	p.G143S		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	143						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			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)			CGGCTGCCGCGGCTACTACTT	0.677													A	61340986	G	A	61340986	3	1	180	1	0	0	0	0	1	0	0	0	10710	1116	39	2	429	2	NTSR1	20	61340986	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		61340986	1684534	45	12524											
EP300	2033	broad.mit.edu	37	22	41556657	41556657	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr22:41556657G>A	uc003azl.4	+	19	3997	c.3602G>A	c.(3601-3603)tGt>tAt	p.C1201Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1201					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TATCATTTCTGTGAGAAGTGT	0.488			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				A	41556657	G	A	41556657	3	1	180	1	0	0	0	0	1	0	0	0	5148	1377	48	3	3680	3	EP300	22	41556657	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		41556657	9747909	46	12525											
EPHB2	2048	broad.mit.edu	37	1	23111326	23111326	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:23111326G>A	uc009vqj.1	+	2	713	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	EPHB2_uc001bge.3_Missense_Mutation_p.V190M|EPHB2_uc001bgf.3_Missense_Mutation_p.V190M|EPHB2_uc010odu.2_Missense_Mutation_p.V190M	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	190	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTCATCGCCGTGCGTGTCTT	0.622													A	23111326	G	A	23111326	3	1	181	1	0	0	0	0	1	0	0	0	5175	1145	40	1	578	1	EPHB2	1	23111326	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		23111326	226139295	1	12526											
PTPRU	10076	broad.mit.edu	37	1	29606627	29606627	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:29606627G>A	uc001bru.3	+	10	1971	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	PTPRU_uc009vtq.3_Silent_p.P614P|PTPRU_uc009vtr.3_Silent_p.P614P|PTPRU_uc001brw.3_Silent_p.P614P	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	614	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCTGAGGCCGGCACAGGGCC	0.652													A	29606627	G	A	29606627	2	1	181	1	0	0	0	0	0	0	0	1	12813	1103	39	2		2	PTPRU	1	29606627	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	6495301	29606627	219643994	2	12527											
RPL5	6125	broad.mit.edu	37	1	93298990	93298990	+	Nonsense_Mutation	SNP	C	C	A	rs148673599	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:93298990C>A	uc001doz.3	+	1	126	c.48C>A	c.(46-48)taC>taA	p.Y16*	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	16					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTAAGAGATACCAAGTGAAAT	0.318													A	93298990	C	A	93298990	4	1	181	1	0	0	0	0	0	1	0	0	13597	518	18	5	54	5	RPL5	1	93298990	Nonsense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	63692363	93298990	155951631	3	12528											
SYCP1	6847	broad.mit.edu	37	1	115401212	115401212	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:115401212G>A	uc001efr.3	+	5	545	c.336G>A	c.(334-336)gaG>gaA	p.E112E	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.E112E|SYCP1_uc009wgw.3_Silent_p.E112E	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	112					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTATAAGGAGGCTGAAAAGA	0.303													A	115401212	G	A	115401212	2	1	181	1	0	0	0	0	0	0	0	1	15428	991	35	3		3	SYCP1	1	115401212	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	22102222	115401212	133849409	4	12529											
SPAG17	200162	broad.mit.edu	37	1	118524021	118524021	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:118524021A>G	uc001ehk.2	-	42	5944	c.5876T>C	c.(5875-5877)tTc>tCc	p.F1959S	SPAG17_uc021osr.1_Missense_Mutation_p.F469S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1959						cilium|flagellar axoneme|microtubule				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)		ATGTGGCTTGAAATCTAGAAA	0.338													G	118524021	A	G	118524021	3	3	181	1	0	0	0	0	1	0	0	0	14979	246	9	4	819	4	SPAG17	1	118524021	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	3122809	118524021	130726600	5	12530											
CRP	1401	broad.mit.edu	37	1	159683681	159683681	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:159683681C>A	uc001ftw.3	-	1	413	c.309G>T	c.(307-309)gaG>gaT	p.E103D	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	103	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.E103K(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTTCAGGAACCTCGAATAATA	0.468													A	159683681	C	A	159683681	3	1	181	1	0	0	0	0	1	0	0	0	3895	680	24	5	369	5	CRP	1	159683681	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	41159660	159683681	89566940	6	12531											
UHMK1	127933	broad.mit.edu	37	1	162492275	162492275	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:162492275G>C	uc001gcc.2	+	7	1391	c.1195G>C	c.(1195-1197)Gtt>Ctt	p.V399L	UHMK1_uc001gcd.3_Missense_Mutation_p.V325L|UHMK1_uc009wuu.2_3'UTR	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.	399	RRM.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGGAAGTTTGTTGTGGCTAC	0.423													C	162492275	G	C	162492275	3	2	181	1	0	0	0	0	1	0	0	0	16963	1377	48	5	1275	5	UHMK1	1	162492275	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	2808594	162492275	86758346	7	12532											
TDRD5	163589	broad.mit.edu	37	1	179620128	179620128	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:179620128G>A	uc010pnp.2	+	11	2445	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	TDRD5_uc021pfm.1_Missense_Mutation_p.E643K|TDRD5_uc001gnf.2_Missense_Mutation_p.E643K|TDRD5_uc021pfn.1_Missense_Mutation_p.E643K|TDRD5_uc001gnh.2_Missense_Mutation_p.E198K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	643					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTCAAACGAAGATGTCTA	0.413													A	179620128	G	A	179620128	3	1	181	1	0	0	0	0	1	0	0	0	15730	1059	37	2	1969	2	TDRD5	1	179620128	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	17127853	179620128	69630493	8	12533											
EHD3	30845	broad.mit.edu	37	2	31483756	31483756	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:31483756A>G	uc002rnu.3	+	3	1491	c.883A>G	c.(883-885)Aac>Gac	p.N295D	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	295					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			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCGCAAGCTCAACGACCTCAT	0.622													G	31483756	A	G	31483756	3	3	181	1	0	0	0	0	1	0	0	0	4979	130	5	4	897	4	EHD3	2	31483756	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08		31483756	211715617	9	12534											
NCAPH	23397	broad.mit.edu	37	2	97035182	97035182	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:97035182C>A	uc002svz.1	+	16	2194	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K	NCAPH_uc010yum.1_Missense_Mutation_p.Q680K|NCAPH_uc010yun.1_Missense_Mutation_p.Q568K	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	704					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGTCATGGCTCAGAACCTCTC	0.438													A	97035182	C	A	97035182	3	1	181	1	0	0	0	0	1	0	0	0	10209	827	29	5	2176	5	NCAPH	2	97035182	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	65551426	97035182	146164191	10	12535											
SP3	6670	broad.mit.edu	37	2	174783399	174783399	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:174783399C>T	uc002uig.3	-	4	2285	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	SP3_uc002uie.3_Missense_Mutation_p.G517E|SP3_uc002uif.3_Missense_Mutation_p.G532E|SP3_uc010zel.2_Missense_Mutation_p.G582E	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	585	Repressor domain.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TTGTTGGTCCCCTTCTTCATC	0.448													T	174783399	C	T	174783399	3	4	181	1	0	0	0	0	1	0	0	0	14965	623	22	3	603	3	SP3	2	174783399	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	77748217	174783399	68415974	11	12536											
TTN	7273	broad.mit.edu	37	2	179483009	179483009	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:179483009C>A	uc021vsy.1	-	200	39697	c.39472G>T	c.(39472-39474)Gtt>Ttt	p.V13158F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V6853F|TTN_uc021vta.1_Missense_Mutation_p.V6786F|TTN_uc021vtb.1_Missense_Mutation_p.V6661F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14085	Ig-like 87.						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)			AGGTACTCAACTCCTCCTTTC	0.458													A	179483009	C	A	179483009	3	1	181	1	0	0	0	0	1	0	0	0	16732	565	20	5	60961	5	TTN	2	179483009	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	4699610	179483009	63716364	12	12537											
TTN	7273	broad.mit.edu	37	2	179650718	179650718	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:179650718C>T	uc021vsy.1	-	13	2452	c.2227G>A	c.(2227-2229)Gcc>Acc	p.A743T	TTN_uc021vsz.1_Missense_Mutation_p.A697T|TTN_uc021vta.1_Missense_Mutation_p.A697T|TTN_uc021vtb.1_Missense_Mutation_p.A697T|TTN_uc002unb.2_Missense_Mutation_p.A743T|TTN_uc010frg.1_Missense_Mutation_p.A325T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	743			A -> V (in CMD1G; affects interaction with TCAP/telethonin).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A743T(3)|p.A697T(3)		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)			ACCTTTGCGGCGGAAATGCGT	0.547													T	179650718	C	T	179650718	3	4	181	1	0	0	0	0	1	0	0	0	16732	768	27	1	109157	1	TTN	2	179650718	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	167709	179650718	63548655	13	12538											
THAP4	51078	broad.mit.edu	37	2	242576398	242576398	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:242576398T>C	uc002wbt.3	-	0	328	c.35A>G	c.(34-36)aAc>aGc	p.N12S	ATG4B_uc002wbu.3_5'Flank|ATG4B_uc002wbv.3_5'Flank|ATG4B_uc002wbw.3_5'Flank|ATG4B_uc010zox.2_5'Flank|ATG4B_uc010zoy.2_5'Flank|ATG4B_uc010fzp.3_5'Flank	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	12							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCCCTGCCGGTTGGAGCAGTT	0.771													C	242576398	T	C	242576398	3	2	181	1	0	0	0	0	1	0	0	0	15843	1725	60	4	1730	4	THAP4	2	242576398	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	62925680	242576398	622975	14	12539											
ITGA9	3680	broad.mit.edu	37	3	37583996	37583996	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:37583996G>A	uc003chd.3	+	14	1662	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	ITGA9_uc003chc.3_Missense_Mutation_p.E537K	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	537					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTGCTGGGAGAGACCATGGG	0.527													A	37583996	G	A	37583996	3	1	181	1	0	0	0	0	1	0	0	0	7883	943	33	3	1667	3	ITGA9	3	37583996	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		37583996	160438434	15	12540											
SCN10A	6336	broad.mit.edu	37	3	38835414	38835414	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:38835414C>T	uc003ciq.3	-	0	88	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	30					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCCTGCTTGGCAGCAATTTGC	0.507													T	38835414	C	T	38835414	3	4	181	1	0	0	0	0	1	0	0	0	13912	710	25	3	5890	3	SCN10A	3	38835414	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	1251418	38835414	159187016	16	12541											
EPHA3	2042	broad.mit.edu	37	3	89259060	89259060	+	Nonsense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:89259060C>G	uc003dqy.3	+	2	429	c.204C>G	c.(202-204)taC>taG	p.Y68*	EPHA3_uc003dqx.1_Nonsense_Mutation_p.Y68*|EPHA3_uc021xbf.1_Nonsense_Mutation_p.Y68*	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	68						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCAGGACTTACCAGGTGTGCA	0.438										TSP Lung(6;0.00050)			G	89259060	C	G	89259060	4	3	181	1	0	0	0	0	0	1	0	0	5168	518	18	5	214	5	EPHA3	3	89259060	Nonsense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	50423646	89259060	108763370	17	12542											
OR5H1	26341	broad.mit.edu	37	3	97852369	97852369	+	Silent	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:97852369A>G	uc011bgt.2	+	0	828	c.828A>G	c.(826-828)ctA>ctG	p.L276L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGGAGCCTCTATTCTACACTG	0.388													G	97852369	A	G	97852369	2	3	181	1	0	0	0	0	0	0	0	1	11159	436	16	4		4	OR5H1	3	97852369	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	8593309	97852369	100170061	18	12543											
PARP9	83666	broad.mit.edu	37	3	122271392	122271392	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:122271392G>A	uc010hri.3	-	4	1230	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	PARP9_uc003eff.4_Missense_Mutation_p.S327L|PARP9_uc011bjs.2_Missense_Mutation_p.S327L|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.S327L|PARP9_uc003efh.3_Missense_Mutation_p.S362L|PARP9_uc003efj.2_Missense_Mutation_p.S327L	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	362	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAGAAATTCCGATTTCATTTC	0.373													A	122271392	G	A	122271392	3	1	181	1	0	0	0	0	1	0	0	0	11466	1059	37	2	1560	2	PARP9	3	122271392	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	24419023	122271392	75751038	19	12544											
CPNE4	131034	broad.mit.edu	37	3	131261494	131261494	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:131261494C>T	uc011blq.2	-	14	1610	c.1500G>A	c.(1498-1500)atG>atA	p.M500I	CPNE4_uc003eok.3_Missense_Mutation_p.M482I|CPNE4_uc003eol.3_Missense_Mutation_p.M500I|CPNE4_uc003eom.3_Missense_Mutation_p.M482I|CPNE4_uc003eoj.3_Missense_Mutation_p.M33I	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	482	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CACCGTCCAGCATCTGCATGT	0.557													T	131261494	C	T	131261494	3	4	181	1	0	0	0	0	1	0	0	0	3814	710	25	3	235	3	CPNE4	3	131261494	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	8990102	131261494	66760936	20	12545											
NPHP3	27031	broad.mit.edu	37	3	132413753	132413754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:132413753_132413754insC	uc003epe.2	-	15	2331_2332	c.2227_2228insG	c.(2227-2229)gatfs	p.D743fs	NPHP3_uc003epd.2_5'UTR	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	743					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAAGAGTATCTTGACACTGG	0.381													C	132413754	-	C	132413753	7	5	181	1	0	1	1	0	0	0	0	0	10580	1435	50	0	1812	0	NPHP3	3	132413753	Frame_Shift_Ins	INS	-	TCGA-26-6174-01A-21D-1845-08	1152259	132413753	65608677	21	12546											
ALG3	10195	broad.mit.edu	37	3	183961666	183961666	+	Missense_Mutation	SNP	G	G	A	rs2233466	by1000genomes	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:183961666G>A	uc003fne.2	-	5	876	c.845C>T	c.(844-846)gCg>gTg	p.A282V	ALG3_uc011brc.1_Missense_Mutation_p.A247V|ALG3_uc011brd.1_Missense_Mutation_p.A226V|ALG3_uc011bre.1_Missense_Mutation_p.A234V	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	282					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGAAGAGCGCCTCTGGGAG	0.612													A	183961666	G	A	183961666	3	1	181	1	0	0	0	0	1	0	0	0	520	1087	38	1	487	1	ALG3	3	183961666	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	51547913	183961666	14060764	22	12547											
CDKL2	8999	broad.mit.edu	37	4	76522320	76522320	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:76522320T>C	uc011cbp.2	-	8	1646	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	CDKL2_uc003hiq.3_Missense_Mutation_p.N374S	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	374					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGCTGGCATTTGAAGCTCT	0.393													C	76522320	T	C	76522320	3	2	181	1	0	0	0	0	1	0	0	0	3154	1493	52	4	372	4	CDKL2	4	76522320	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08		76522320	114631956	23	12548											
THAP9	79725	broad.mit.edu	37	4	83825996	83825996	+	Missense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:83825996C>G	uc003hnt.2	+	1	307	c.188C>G	c.(187-189)tCc>tGc	p.S63C	THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_5'UTR	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	63							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATACTGTGTTCCAAACATTTT	0.403													G	83825996	C	G	83825996	3	3	181	1	0	0	0	0	1	0	0	0	15848	855	30	5	194	5	THAP9	4	83825996	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	7303676	83825996	107328280	24	12549											
GK	2713	broad.mit.edu	37	4	166199810	166199810	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:166199810G>A	uc003ird.3	-	0	1366	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	336					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CTTAGCCAGCGAATAACAGCA	0.428													A	166199810	G	A	166199810	3	1	181	1	0	0	0	0	1	0	0	0	6420	1073	37	2		2	GK	4	166199810	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	82373814	166199810	24954466	25	12550											
DDX60L	91351	broad.mit.edu	37	4	169279395	169279395	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:169279395C>T	uc021xuh.1	-	36	5134	c.5024G>A	c.(5023-5025)cGt>cAt	p.R1675H	DDX60L_uc003irq.4_Missense_Mutation_p.R1675H	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1675							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TACATTGTCACGCTTATTTTC	0.269													T	169279395	C	T	169279395	3	4	181	1	0	0	0	0	1	0	0	0	4379	536	19	1	100	1	DDX60L	4	169279395	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	3079585	169279395	21874881	26	12551											
MYO10	4651	broad.mit.edu	37	5	16877810	16877810	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:16877810G>A	uc003jft.4	-	1	496	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Missense_Mutation_p.R10W	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	10	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGCCAGACCCGTGTTCCCTGT	0.438													A	16877810	G	A	16877810	3	1	181	1	0	0	0	0	1	0	0	0	10062	1144	40	1	6308	1	MYO10	5	16877810	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		16877810	164037450	27	12552											
PARP8	79668	broad.mit.edu	37	5	50091080	50091080	+	Silent	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:50091080A>G	uc003jon.4	+	12	1439	c.1257A>G	c.(1255-1257)gaA>gaG	p.E419E	PARP8_uc011cpz.2_Silent_p.E311E|PARP8_uc003joo.3_Silent_p.E419E|PARP8_uc003jop.3_Silent_p.E419E	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	419						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAATGGAAGAATTATATGGAC	0.438													G	50091080	A	G	50091080	2	3	181	1	0	0	0	0	0	0	0	1	11465	98	4	4		4	PARP8	5	50091080	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	33213270	50091080	130824180	28	12553											
DDX4	54514	broad.mit.edu	37	5	55083703	55083703	+	Silent	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:55083703T>C	uc003jqg.4	+	14	1146	c.1047T>C	c.(1045-1047)caT>caC	p.H349H	DDX4_uc010ivz.3_Silent_p.H329H|DDX4_uc003jqh.4_Silent_p.H315H|DDX4_uc003jqj.3_Silent_p.H200H	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	349	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGGCTCATATGATGCATG	0.383													C	55083703	T	C	55083703	2	2	181	1	0	0	0	0	0	0	0	1	4360	1403	49	4		4	DDX4	5	55083703	Silent	SNP	T	TCGA-26-6174-01A-21D-1845-08	4992623	55083703	125831557	29	12554											
MAST4	375449	broad.mit.edu	37	5	66460727	66460727	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:66460727C>A	uc021xzk.1	+	28	6028	c.5720C>A	c.(5719-5721)gCc>gAc	p.A1907D	MAST4_uc003jut.2_Missense_Mutation_p.A1718D|MAST4_uc003juw.3_Missense_Mutation_p.A1646D|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1910						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			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)		CATCCTACTGCCAGGAGCCCT	0.582													A	66460727	C	A	66460727	3	1	181	1	0	0	0	0	1	0	0	0	9327	739	26	5	5964	5	MAST4	5	66460727	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	11377024	66460727	114454533	30	12555											
PIK3R1	5295	broad.mit.edu	37	5	67591145	67591145	+	Missense_Mutation	SNP	T	T	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:67591145T>G	uc003jva.3	+	12	2318	c.1738T>G	c.(1738-1740)Tac>Gac	p.Y580D	PIK3R1_uc003jvc.3_Missense_Mutation_p.Y280D|PIK3R1_uc003jvd.3_Missense_Mutation_p.Y310D|PIK3R1_uc003jve.3_Missense_Mutation_p.Y259D|PIK3R1_uc021xzn.1_Missense_Mutation_p.Y217D|PIK3R1_uc011crb.2_Missense_Mutation_p.Y250D	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	580					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R577_M582>K(2)|p.Q579_Y580insDK(2)|p.0?(1)|p.?(1)|p.Q579fs*23(1)|p.Y580fs*1(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAGAGACCAATACTTGATGTA	0.368			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591145	T	G	67591145	3	3	181	1	0	0	0	0	1	0	0	0	11918	1406	49	5	1914	5	PIK3R1	5	67591145	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	1130418	67591145	113324115	31	12556											
PCDHAC2	56145	broad.mit.edu	37	5	140182250	140182250	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:140182250G>C	uc003lhf.2	+	0	1468	c.1468G>C	c.(1468-1470)Gtg>Ctg	p.V490L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V490L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	504	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCCTGGTGTCCTACTC	0.677													C	140182250	G	C	140182250	3	2	181	1	0	0	0	0	1	0	0	0	11533	1261	44	5		5	PCDHAC2	5	140182250	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	72591105	140182250	40733010	32	12557											
PCDHAC2	56136	broad.mit.edu	37	5	140263908	140263908	+	Silent	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:140263908C>T	uc003lif.2	+	0	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.G685G|PCDHAC2_uc003lid.3_Silent_p.G685G	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	698	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCAGGCGCTGTGGGTC	0.632													T	140263908	C	T	140263908	2	4	181	1	0	0	0	0	0	0	0	1	11533	755	27	1		1	PCDHAC2	5	140263908	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08	81658	140263908	40651352	33	12558											
KIF4B	285643	broad.mit.edu	37	5	154393521	154393521	+	Silent	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:154393521C>T	uc010jih.1	+	0	262	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	34	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCTTTCCTTCGTGCCCGGGG	0.512													T	154393521	C	T	154393521	2	4	181	1	0	0	0	0	0	0	0	1	8304	883	31	2		2	KIF4B	5	154393521	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08	14129613	154393521	26521739	34	12559											
ADAMTS2	9509	broad.mit.edu	37	5	178579165	178579165	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:178579165C>T	uc003mjw.3	-	9	1709	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E	ADAMTS2_uc011dgm.2_Missense_Mutation_p.G536E	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	536	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACACATAGTCCCGTCCAAGGG	0.602													T	178579165	C	T	178579165	3	4	181	1	0	0	0	0	1	0	0	0	265	623	22	3	2155	3	ADAMTS2	5	178579165	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	24185644	178579165	2336095	35	12560											
COL11A2	1302	broad.mit.edu	37	6	33132163	33132163	+	Missense_Mutation	SNP	C	C	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:33132163C>A	uc003ocx.1	-	64	5179	c.4951G>T	c.(4951-4953)Gtc>Ttc	p.V1651F	COL11A2_uc010jul.1_Missense_Mutation_p.V221F|COL11A2_uc003ocy.1_Missense_Mutation_p.V1565F|COL11A2_uc003ocz.1_Missense_Mutation_p.V1544F	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1651	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGTAGGAGACGTCCTGGTGG	0.622													A	33132163	C	A	33132163	3	1	181	1	0	0	0	0	1	0	0	0	3668	536	19	5	267	5	COL11A2	6	33132163	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		33132163	137982904	36	12561											
KHDRBS2	202559	broad.mit.edu	37	6	62407128	62407128	+	Silent	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:62407128T>C	uc003peg.2	-	7	1171	c.924A>G	c.(922-924)ggA>ggG	p.G308G		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	308			G -> A (in dbSNP:rs7449840).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTCACTTACTCCATGACCGT	0.378													C	62407128	T	C	62407128	2	2	181	1	0	0	0	0	0	0	0	1	8147	1538	54	4		4	KHDRBS2	6	62407128	Silent	SNP	T	TCGA-26-6174-01A-21D-1845-08	29274965	62407128	108707939	37	12562											
EYS	346007	broad.mit.edu	37	6	66094367	66094367	+	Missense_Mutation	SNP	T	T	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:66094367T>A	uc011dxu.1	-	7	1749	c.1211A>T	c.(1210-1212)aAc>aTc	p.N404I	EYS_uc003peq.3_Missense_Mutation_p.N404I|EYS_uc003per.1_Missense_Mutation_p.N404I|EYS_uc021zbn.1_Missense_Mutation_p.N404I	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	404	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTCTCACAGTTTTTTTCAGT	0.284													A	66094367	T	A	66094367	3	1	181	1	0	0	0	0	1	0	0	0	5332	1725	60	5	8329	5	EYS	6	66094367	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	3687239	66094367	105020700	38	12563											
NT5E	4907	broad.mit.edu	37	6	86203654	86203654	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:86203654C>T	uc003pko.4	+	8	2213	c.1657C>T	c.(1657-1659)Cac>Tac	p.H553Y	NT5E_uc010kbr.3_Missense_Mutation_p.H503Y	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	553					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CACAGGAAGTCACTGCCATGG	0.363													T	86203654	C	T	86203654	3	4	181	1	0	0	0	0	1	0	0	0	10693	826	29	3	1691	3	NT5E	6	86203654	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	20109287	86203654	84911413	39	12564											
ROS1	6098	broad.mit.edu	37	6	117715327	117715327	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:117715327G>C	uc003pxp.1	-	9	1361	c.1162C>G	c.(1162-1164)Ctg>Gtg	p.L388V	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	388					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGACTAACCAGTTCATCCATG	0.323			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								C	117715327	G	C	117715327	3	2	181	1	0	0	0	0	1	0	0	0	13531	1020	36	5	6017	5	ROS1	6	117715327	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	31511673	117715327	53399740	40	12565											
CLVS2	134829	broad.mit.edu	37	6	123319281	123319281	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:123319281T>C	uc003pzi.1	+	1	1228	c.359T>C	c.(358-360)gTc>gCc	p.V120A		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	120	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAGATTCTAGTCCTTTTTGCT	0.483													C	123319281	T	C	123319281	3	2	181	1	0	0	0	0	1	0	0	0	3572	1667	58	4	361	4	CLVS2	6	123319281	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	5603954	123319281	47795786	41	12566											
KIAA1244	57221	broad.mit.edu	37	6	138638494	138638494	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:138638494G>C	uc003qhu.3	+	26	4623	c.4452G>C	c.(4450-4452)ttG>ttC	p.L1484F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1484					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGAGCTGTTGAGAGATGTGA	0.468													C	138638494	G	C	138638494	3	2	181	1	0	0	0	0	1	0	0	0	8217	1281	45	5	4558	5	KIAA1244	6	138638494	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	15319213	138638494	32476573	42	12567											
SP4	6671	broad.mit.edu	37	7	21469834	21469834	+	Missense_Mutation	SNP	T	T	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:21469834T>A	uc003sva.3	+	2	1232	c.1051T>A	c.(1051-1053)Tca>Aca	p.S351T	SP4_uc003svb.3_Missense_Mutation_p.S38T	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	351					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TGCAAGCACATCAGCCAGTAG	0.502													A	21469834	T	A	21469834	3	1	181	1	0	0	0	0	1	0	0	0	14966	1435	50	5	1061	5	SP4	7	21469834	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08		21469834	137668829	43	12568											
DYNC1I1	1780	broad.mit.edu	37	7	95665015	95665015	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:95665015G>A	uc003uoc.4	+	12	1643	c.1366G>A	c.(1366-1368)Gtg>Atg	p.V456M	DYNC1I1_uc003uod.4_Missense_Mutation_p.V439M|DYNC1I1_uc003uob.3_Missense_Mutation_p.V419M|DYNC1I1_uc003uoe.4_Missense_Mutation_p.V436M|DYNC1I1_uc010lfl.3_Missense_Mutation_p.V445M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	456					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAATAACTTCGTGGTTGGCAG	0.473													A	95665015	G	A	95665015	3	1	181	1	0	0	0	0	1	0	0	0	4842	1145	40	1	1412	1	DYNC1I1	7	95665015	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	74195181	95665015	63473648	44	12569											
SLC12A9	56996	broad.mit.edu	37	7	100451836	100451836	+	Nonsense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:100451836C>G	uc003uwp.3	+	1	159	c.17C>G	c.(16-18)tCa>tGa	p.S6*	SLC12A9_uc003uwo.1_Nonsense_Mutation_p.S6*|SLC12A9_uc003uwq.3_Nonsense_Mutation_p.S6*|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	6						integral to membrane|plasma membrane	cation:chloride symporter activity	p.S6S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCGAGAGCTCACCTCTGCTG	0.632													G	100451836	C	G	100451836	4	3	181	1	0	0	0	0	0	1	0	0	14390	838	29	5	19	5	SLC12A9	7	100451836	Nonsense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	4786821	100451836	58686827	45	12570											
PLXNA4	91584	broad.mit.edu	37	7	131883269	131883269	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:131883269C>T	uc003vra.4	-	12	2942	c.2713G>A	c.(2713-2715)Gtg>Atg	p.V905M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	905	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane		p.V905M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAACCATCCACTAAAGGGCTG	0.562													T	131883269	C	T	131883269	3	4	181	1	0	0	0	0	1	0	0	0	12122	565	20	3	3051	3	PLXNA4	7	131883269	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	31431433	131883269	27255394	46	12571											
BLK	640	broad.mit.edu	37	8	11400849	11400849	+	Missense_Mutation	SNP	C	C	T	rs142352008	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:11400849C>T	uc003wty.3	+	1	697	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	39					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCGCCACTGCCGCCCCTGGTG	0.532													T	11400849	C	T	11400849	3	4	181	1	0	0	0	0	1	0	0	0	1444	652	23	2	118	2	BLK	8	11400849	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		11400849	134963173	47	12572											
GRHL2	79977	broad.mit.edu	37	8	102585963	102585963	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:102585963A>T	uc010mbu.3	+	5	1132	c.802A>T	c.(802-804)Acc>Tcc	p.T268S	GRHL2_uc011lhi.1_Missense_Mutation_p.T268S	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	268						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGGCCCCATGACCTACCTCAA	0.532													T	102585963	A	T	102585963	3	4	181	1	0	0	0	0	1	0	0	0	6764	275	10	5	824	5	GRHL2	8	102585963	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	91185114	102585963	43778059	48	12573											
FER1L6	654463	broad.mit.edu	37	8	124992825	124992825	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:124992825G>A	uc003yqw.3	+	10	1390	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	395						integral to membrane		p.R394K(1)		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)			TCATTCAGGGGCAGAATCTTG	0.507											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	124992825	G	A	124992825	3	1	181	1	0	0	0	0	1	0	0	0	5815	1203	42	3	1222	3	FER1L6	8	124992825	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	22406862	124992825	21371197	49	12574											
CHRAC1	54108	broad.mit.edu	37	8	141525277	141525277	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:141525277G>A	uc003yvl.3	+	2	529	c.327G>A	c.(325-327)gaG>gaA	p.E109E	CHRAC1_uc010mem.2_Non-coding_Transcript|CHRAC1_uc022bbv.1_Non-coding_Transcript	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	Homo sapiens chromatin accessibility complex 1 (CHRAC1), transcript variant 1, mRNA.	109					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			TGCTTAAAGAGGAAAAGAGGG	0.353													A	141525277	G	A	141525277	2	1	181	1	0	0	0	0	0	0	0	1	3371	991	35	3		3	CHRAC1	8	141525277	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	16532452	141525277	4838745	50	12575											
TOPORS	10210	broad.mit.edu	37	9	32543467	32543467	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr9:32543467T>C	uc003zrb.3	-	2	1248	c.1056A>G	c.(1054-1056)atA>atG	p.I352M	TOPORS_uc003zrc.3_Missense_Mutation_p.I287M	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	352	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAATTCATGTATAAAATGCT	0.398													C	32543467	T	C	32543467	3	2	181	1	0	0	0	0	1	0	0	0	16367	1628	57	4	2085	4	TOPORS	9	32543467	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08		32543467	108669964	51	12576											
ZMYND19	116225	broad.mit.edu	37	9	140477434	140477434	+	Splice_Site	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr9:140477434C>T	uc004cno.1	-	5	762	c.540_splice	c.e5+1	p.Q180_splice		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	Homo sapiens zinc finger, MYND-type containing 19 (ZMYND19), mRNA.	180						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGCACACCCACCTGCTTCTCA	0.587													T	140477434	C	T	140477434	5	4	181	1	0	0	0	0	0	0	1	0	17707	521	18	3	150	3	ZMYND19	9	140477434	Splice_Site	SNP	C	TCGA-26-6174-01A-21D-1845-08	107933967	140477434	735997	52	12577											
ITIH2	3698	broad.mit.edu	37	10	7759687	7759687	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:7759687G>T	uc001ijs.3	+	5	728	c.566G>T	c.(565-567)aGg>aTg	p.R189M		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	189					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGAAGTGGAGGAAGCTGGGC	0.522													T	7759687	G	T	7759687	3	4	181	1	0	0	0	0	1	0	0	0	7904	1000	35	5	588	5	ITIH2	10	7759687	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		7759687	127775060	53	12578											
CTNNA3	29119	broad.mit.edu	37	10	68139038	68139038	+	Missense_Mutation	SNP	C	C	T	rs139378888	by1000genomes	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:68139038C>T	uc009xpn.1	-	11	1727	c.1604G>A	c.(1603-1605)cGt>cAt	p.R535H	CTNNA3_uc001jmw.2_Missense_Mutation_p.R535H	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	535			R -> C (in dbSNP:rs41274090).		cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACCCGCAGCACGGTCTAAATT	0.458													T	68139038	C	T	68139038	3	4	181	1	0	0	0	0	1	0	0	0	4014	536	19	1	1111	1	CTNNA3	10	68139038	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	60379351	68139038	67395709	54	12579											
PTEN	5728	broad.mit.edu	37	10	89711915	89711915	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:89711915A>G	uc001kfb.3	+	5	1565	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	178	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.Y177C(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y178del(2)|p.Y177fs*1(2)|p.Y27fs*1(2)|p.Y177*(2)|p.Y27_N212>Y(2)|p.Y178*(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.Y177fs*2(1)|p.G165_K342del(1)|p.Y178fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTGTATTATTATAGCTACCTG	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89711915	A	G	89711915	3	3	181	1	0	0	0	0	1	0	0	0	12738	449	16	4	555	4	PTEN	10	89711915	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	21572877	89711915	45822832	55	12580											
IFIT2	3433	broad.mit.edu	37	10	91066921	91066921	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:91066921A>T	uc009xts.3	+	1	1383	c.1208A>T	c.(1207-1209)cAg>cTg	p.Q403L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	403					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAAATAAACCAGAAATCAAGG	0.398													T	91066921	A	T	91066921	3	4	181	1	0	0	0	0	1	0	0	0	7523	188	7	5	1214	5	IFIT2	10	91066921	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	1355006	91066921	44467826	56	12581											
SLC22A18	5002	broad.mit.edu	37	11	2939241	2939241	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:2939241G>A	uc001lwx.3	+	6	897	c.679G>A	c.(679-681)Gac>Aac	p.D227N	SLC22A18_uc001lwy.3_Missense_Mutation_p.D227N	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	227				D -> E (in Ref. 4; AAB82727 and 6; AAC23505).	excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGTGTGTTCGACCTGAAGGC	0.672													A	2939241	G	A	2939241	3	1	181	1	0	0	0	0	1	0	0	0	14449	1058	37	2	701	2	SLC22A18	11	2939241	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		2939241	132067275	57	12582											
OR4C13	283092	broad.mit.edu	37	11	49974296	49974296	+	Missense_Mutation	SNP	G	G	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:49974296G>T	uc010rhz.2	+	0	354	c.322G>T	c.(322-324)Gtt>Ttt	p.V108F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTTCAGAGGTGTTGAGGTCAT	0.423													T	49974296	G	T	49974296	3	4	181	1	0	0	0	0	1	0	0	0	11047	1377	48	5	324	5	OR4C13	11	49974296	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	47035055	49974296	85032220	58	12583											
OR5L1	219437	broad.mit.edu	37	11	55579768	55579768	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:55579768G>A	uc001nhw.1	+	0	826	c.826G>A	c.(826-828)Gtg>Atg	p.V276M		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T275N(2)|p.V276V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGTGGCCACCGTGTTCTACAC	0.458													A	55579768	G	A	55579768	3	1	181	1	0	0	0	0	1	0	0	0	11170	1145	40	1	828	1	OR5L1	11	55579768	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	5605472	55579768	79426748	59	12584											
OR5M9	390162	broad.mit.edu	37	11	56230082	56230082	+	Missense_Mutation	SNP	C	C	T	rs148447943	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:56230082C>T	uc010rjj.2	-	0	796	c.796G>A	c.(796-798)Gta>Ata	p.V266I	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S265F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCCTGCTCTACGGATTCCTCA	0.468													T	56230082	C	T	56230082	3	4	181	1	0	0	0	0	1	0	0	0	11177	536	19	1	138	1	OR5M9	11	56230082	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	650314	56230082	78776434	60	12585											
CTTN	2017	broad.mit.edu	37	11	70266538	70266538	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:70266538G>A	uc001opv.4	+	9	918	c.712G>A	c.(712-714)Gtg>Atg	p.V238M	CTTN_uc001opu.3_Missense_Mutation_p.V238M|CTTN_uc001opw.4_Missense_Mutation_p.V238M|CTTN_uc010rqm.2_5'UTR|CTTN_uc001opx.3_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	238						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AAAATTTGGTGTGCAGACAGA	0.458													A	70266538	G	A	70266538	3	1	181	1	0	0	0	0	1	0	0	0	4044	1377	48	3	742	3	CTTN	11	70266538	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	14036456	70266538	64739978	61	12586											
APLP2	334	broad.mit.edu	37	11	129992408	129992408	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:129992408G>A	uc010sby.2	+	6	1079	c.922_splice	c.e6+1	p.A308_splice	APLP2_uc001qfp.3_Splice_Site_p.A308_splice|APLP2_uc001qfq.3_Splice_Site_p.V308_splice|APLP2_uc010sbz.2_Splice_Site_p.V152_splice|APLP2_uc001qfr.3_Splice_Site_p.V130_splice|APLP2_uc001qfs.3_Intron|APLP2_uc021qsg.1_Splice_Site_p.A318_splice|APLP2_uc001qfv.3_Splice_Site_p.V255_splice	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	308	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGATGTCAAAGGTAACCCCAT	0.443													A	129992408	G	A	129992408	3	1	181	1	0	0	0	0	1	0	0	0	779	1014	35	3	944	3	APLP2	11	129992408	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	59725870	129992408	5014108	62	12587											
KRT79	338785	broad.mit.edu	37	12	53217702	53217702	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:53217702A>G	uc001sbb.3	-	5	1148	c.1115T>C	c.(1114-1116)cTg>cCg	p.L372P	KRT79_uc001sba.3_Missense_Mutation_p.L143P	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	372	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCCCCTGCAGCCTCTGGAT	0.617													G	53217702	A	G	53217702	3	3	181	1	0	0	0	0	1	0	0	0	8492	188	7	4	508	4	KRT79	12	53217702	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08		53217702	80634193	63	12588											
PTPRB	5787	broad.mit.edu	37	12	70974843	70974843	+	Nonsense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:70974843G>A	uc001swb.4	-	7	1927	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	PTPRB_uc010sto.2_Nonsense_Mutation_p.R633*|PTPRB_uc010stp.2_Nonsense_Mutation_p.R543*|PTPRB_uc001swc.4_Nonsense_Mutation_p.R851*|PTPRB_uc001swa.4_Nonsense_Mutation_p.R851*|PTPRB_uc001swd.4_Nonsense_Mutation_p.R850*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.R730*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	633	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R633R(2)|p.R851R(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCACTTGTCGGGAAGAGATC	0.468													A	70974843	G	A	70974843	4	1	181	1	0	0	0	0	0	1	0	0	12796	1124	39	2	4196	2	PTPRB	12	70974843	Nonsense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	17757141	70974843	62877052	64	12589											
ANO4	121601	broad.mit.edu	37	12	101493475	101493475	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:101493475T>C	uc010svm.1	+	21	2698	c.2126T>C	c.(2125-2127)cTc>cCc	p.L709P	ANO4_uc001thw.2_Missense_Mutation_p.L674P|ANO4_uc001thx.2_Missense_Mutation_p.L709P|ANO4_uc001thy.2_Missense_Mutation_p.L229P	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	709						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCTATGGACTCTTCGATGAA	0.333										HNSCC(74;0.22)			C	101493475	T	C	101493475	3	2	181	1	0	0	0	0	1	0	0	0	699	1551	54	4	2099	4	ANO4	12	101493475	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	30518632	101493475	32358420	65	12590											
RNF17	56163	broad.mit.edu	37	13	25373533	25373533	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:25373533G>A	uc001upr.3	+	12	1441	c.1400_splice	c.e12-1	p.G467_splice	RNF17_uc010tdd.1_Splice_Site_p.G326_splice|RNF17_uc010tde.2_Splice_Site_p.G467_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.G406_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	467			G -> S (in dbSNP:rs9581180).		multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)		CATTATTTAGGTGCAAGAATA	0.328													A	25373533	G	A	25373533	3	1	181	1	0	0	0	0	1	0	0	0	13461	1275	44	3	1446	3	RNF17	13	25373533	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		25373533	89796345	66	12591											
BRCA2	675	broad.mit.edu	37	13	32913746	32913746	+	Missense_Mutation	SNP	C	C	A	rs80358749		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:32913746C>A	uc001uub.1	+	10	5481	c.5254C>A	c.(5254-5256)Cat>Aat	p.H1752N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1752					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTATTCCTACCATTCTGATGA	0.308			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32913746	C	A	32913746	3	1	181	1	0	0	0	0	1	0	0	0	1499	594	21	5	5292	5	BRCA2	13	32913746	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	7540213	32913746	82256132	67	12592											
TNFSF11	8600	broad.mit.edu	37	13	43175077	43175077	+	Silent	SNP	T	T	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:43175077T>A	uc001uyu.2	+	3	641	c.492T>A	c.(490-492)ccT>ccA	p.P164P	TNFSF11_uc001uyt.2_Silent_p.P91P	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	164					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		AAGCTCAGCCTTTTGCTCATC	0.428													A	43175077	T	A	43175077	2	1	181	1	0	0	0	0	0	0	0	1	16299	1596	56	5		5	TNFSF11	13	43175077	Silent	SNP	T	TCGA-26-6174-01A-21D-1845-08	10261331	43175077	71994801	68	12593											
OR4M1	441670	broad.mit.edu	37	14	20249338	20249338	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:20249338C>T	uc010tku.2	+	0	857	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTTAATCCCATTATTTAC	0.363													T	20249338	C	T	20249338	3	4	181	1	0	0	0	0	1	0	0	0	11075	623	22	3	859	3	OR4M1	14	20249338	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		20249338	87100202	69	12594											
CHD8	57680	broad.mit.edu	37	14	21897227	21897227	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:21897227G>C	uc001war.2	-	1	1176	c.1111C>G	c.(1111-1113)Cag>Gag	p.Q371E	CHD8_uc001was.2_Missense_Mutation_p.Q92E	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	371	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTCACTGGCTGGGTGGAGGGT	0.547													C	21897227	G	C	21897227	3	2	181	1	0	0	0	0	1	0	0	0	3331	1357	47	5	6778	5	CHD8	14	21897227	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	1647889	21897227	85452313	70	12595											
SLC35F4	341880	broad.mit.edu	37	14	58063582	58063582	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:58063582G>C	uc021rtp.1	-						SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCACTGGTCAGTTTGTGGAAG	0.428													C	58063582	G	C	58063582	3	2	181	1	0	0	0	0	1	0	0	0	14591	1020	36	5	1563	5	SLC35F4	14	58063582	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	36166355	58063582	49285958	71	12596											
ATG2B	55102	broad.mit.edu	37	14	96779478	96779478	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:96779478T>C	uc001yfi.3	-	24	4131	c.3766A>G	c.(3766-3768)Atc>Gtc	p.I1256V		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1256										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGAGATCGGATTGGCAAATAA	0.378													C	96779478	T	C	96779478	3	2	181	1	0	0	0	0	1	0	0	0	1094	1493	52	4	2542	4	ATG2B	14	96779478	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	38715896	96779478	10570062	72	12597											
FAM81A	145773	broad.mit.edu	37	15	59752269	59752269	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:59752269G>A	uc002agc.2	+	2	345	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	FAM81A_uc010uha.2_Missense_Mutation_p.R53Q	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.	53										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CACGCCTTTCGGATTAAAGAT	0.502													A	59752269	G	A	59752269	3	1	181	1	0	0	0	0	1	0	0	0	5628	1116	39	2	164	2	FAM81A	15	59752269	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		59752269	42779123	73	12598											
MAN2A2	4122	broad.mit.edu	37	15	91452684	91452684	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:91452684T>C	uc010bnz.2	+	8	1439	c.1324T>C	c.(1324-1326)Tac>Cac	p.Y442H	MAN2A2_uc010boa.3_Missense_Mutation_p.Y484H|MAN2A2_uc002bqc.3_Missense_Mutation_p.Y442H|MAN2A2_uc010uql.2_Missense_Mutation_p.Y146H|MAN2A2_uc010uqm.2_Silent_p.T88T|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	442					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTTCTTCAACTACCAACGGCT	0.567													C	91452684	T	C	91452684	3	2	181	1	0	0	0	0	1	0	0	0	9215	1522	53	4	1354	4	MAN2A2	15	91452684	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	31700415	91452684	11078708	74	12599											
SPATA8	145946	broad.mit.edu	37	15	97326893	97326893	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:97326893C>T	uc002bue.3	+	0	215	c.8C>T	c.(7-9)cCg>cTg	p.P3L	DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	3										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GGAATGGCCCCGGCTGGGATG	0.567													T	97326893	C	T	97326893	3	4	181	1	0	0	0	0	1	0	0	0	15014	652	23	2	10	2	SPATA8	15	97326893	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	5874209	97326893	5204499	75	12600											
PDILT	204474	broad.mit.edu	37	16	20373885	20373885	+	Missense_Mutation	SNP	C	C	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:20373885C>G	uc002dhc.1	-	9	1480	c.1257G>C	c.(1255-1257)aaG>aaC	p.K419N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	419	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCATCTTGCACTTTTTAGACC	0.473													G	20373885	C	G	20373885	3	3	181	1	0	0	0	0	1	0	0	0	11674	564	20	5	509	5	PDILT	16	20373885	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		20373885	69980868	76	12601											
ERN2	10595	broad.mit.edu	37	16	23712369	23712369	+	Missense_Mutation	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:23712369A>G	uc002dma.4	-	11	1583	c.1414T>C	c.(1414-1416)Tct>Cct	p.S472P	ERN2_uc010bxp.3_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.S280P	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	424				FAH -> TAD (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCAAGTAAGAGTCTGGAGTT	0.562													G	23712369	A	G	23712369	3	3	181	1	0	0	0	0	1	0	0	0	5238	304	11	4	1554	4	ERN2	16	23712369	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	3338484	23712369	66642384	77	12602											
PRKCB	5579	broad.mit.edu	37	16	24202548	24202548	+	Silent	SNP	A	A	G			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:24202548A>G	uc002dmd.3	+	15	2057	c.1860A>G	c.(1858-1860)aaA>aaG	p.K620K	PRKCB_uc002dme.3_Silent_p.K620K	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	620	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATAAGCCAAAAGCTGTAAGTA	0.473													G	24202548	A	G	24202548	2	3	181	1	0	0	0	0	0	0	0	1	12508	69	3	4		4	PRKCB	16	24202548	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	490179	24202548	66152205	78	12603											
LPCAT2	54947	broad.mit.edu	37	16	55543215	55543215	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:55543215C>T	uc002eie.4	+	0	303	c.122C>T	c.(121-123)cCg>cTg	p.P41L		NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	41					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCGCCGGTGCCGAACCCCTTC	0.726													T	55543215	C	T	55543215	3	4	181	1	0	0	0	0	1	0	0	0	8911	652	23	2	124	2	LPCAT2	16	55543215	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	31340667	55543215	34811538	79	12604											
C16orf46	123775	broad.mit.edu	37	16	81095126	81095126	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:81095126G>A	uc002fgc.4	-	3	1087	c.828C>T	c.(826-828)aaC>aaT	p.N276N	C16orf46_uc010chf.3_Silent_p.N276N|C16orf46_uc010vno.2_Silent_p.N3N	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	276										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						ATGGCGTGTCGTTGACCATAG	0.552													A	81095126	G	A	81095126	2	1	181	1	0	0	0	0	0	0	0	1	1815	1136	40	1		1	C16orf46	16	81095126	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	25551911	81095126	9259627	80	12605											
KIAA0513	9764	broad.mit.edu	37	16	85120720	85120720	+	Silent	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:85120720G>A	uc002fiu.3	+	11	1354	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	KIAA0513_uc010voj.2_Silent_p.K368K	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	378						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGAACAAGAAGCTGTGCAATG	0.612											OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	85120720	G	A	85120720	2	1	181	1	0	0	0	0	0	0	0	1	8181	962	34	3		3	KIAA0513	16	85120720	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	4025594	85120720	5234033	81	12606											
SENP3	26168	broad.mit.edu	37	17	7466491	7466491	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:7466491G>A	uc002ghm.3	+	1	381	c.98G>A	c.(97-99)cGt>cAt	p.R33H	EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.	33	Pro-rich.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GAGCGTCTTCGTTGGCCCCCA	0.637													A	7466491	G	A	7466491	3	1	181	1	0	0	0	0	1	0	0	0	14048	1145	40	1	100	1	SENP3	17	7466491	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		7466491	73728719	82	12607											
ALOX15B	247	broad.mit.edu	37	17	7948185	7948185	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:7948185G>A	uc002gju.3	+	5	831	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	ALOX15B_uc002gjv.3_Missense_Mutation_p.A239T|ALOX15B_uc002gjw.3_Missense_Mutation_p.A239T|ALOX15B_uc010vun.2_Missense_Mutation_p.A239T|ALOX15B_uc010cnp.3_Missense_Mutation_p.A45T	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	239	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGCCTTCTTCGCCTCCCAGTT	0.607													A	7948185	G	A	7948185	3	1	181	1	0	0	0	0	1	0	0	0	539	1087	38	1	737	1	ALOX15B	17	7948185	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	481694	7948185	73247025	83	12608											
KRT24	192666	broad.mit.edu	37	17	38859417	38859417	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:38859417C>T	uc002hvd.3	-	0	586	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	177	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCATATTTGTCATACCACTCC	0.458													T	38859417	C	T	38859417	3	4	181	1	0	0	0	0	1	0	0	0	8461	826	29	3	1080	3	KRT24	17	38859417	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	30911232	38859417	42335793	84	12609											
ABCA6	23460	broad.mit.edu	37	17	67079124	67079124	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:67079124G>C	uc002jhw.1	-	35	4681	c.4506C>G	c.(4504-4506)aaC>aaG	p.N1502K		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1502	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGCCAAGTTTGTTTTTCAGGT	0.378													C	67079124	G	C	67079124	3	2	181	1	0	0	0	0	1	0	0	0	36	1368	48	5	363	5	ABCA6	17	67079124	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	28219707	67079124	14116086	85	12610											
ZNF236	7776	broad.mit.edu	37	18	74625839	74625839	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr18:74625839G>A	uc002lmi.3	+	17	3238	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1014					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGTCCCACGAGAAGACACA	0.483													A	74625839	G	A	74625839	3	1	181	1	0	0	0	0	1	0	0	0	17786	1059	37	2	3110	2	ZNF236	18	74625839	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		74625839	3451409	86	12611											
PTPRS	5802	broad.mit.edu	37	19	5221104	5221104	+	Missense_Mutation	SNP	A	A	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:5221104A>C	uc002mbv.3	-	19	3596	c.3362T>G	c.(3361-3363)cTg>cGg	p.L1121R	PTPRS_uc002mbu.1_Missense_Mutation_p.L690R|PTPRS_uc010xin.2_Missense_Mutation_p.L690R|PTPRS_uc002mbw.3_Missense_Mutation_p.L1099R|PTPRS_uc002mbx.3_Missense_Mutation_p.L694R|PTPRS_uc002mby.3_Missense_Mutation_p.L690R	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1121					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCCGTTGAGCAGGTTGAAGGC	0.622													C	5221104	A	C	5221104	3	2	181	1	0	0	0	0	1	0	0	0	12811	188	7	5	2560	5	PTPRS	19	5221104	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08		5221104	53907879	87	12612											
ZNF99	7652	broad.mit.edu	37	19	22940690	22940690	+	Missense_Mutation	SNP	T	T	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:22940690T>C	uc021urt.1	-	3	2176	c.2021A>G	c.(2020-2022)gAg>gGg	p.E674G		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											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)				GTAGGGTTTCTCTTCAGTATG	0.358													C	22940690	T	C	22940690	3	2	181	1	0	0	0	0	1	0	0	0	18201	1551	54	4	1376	4	ZNF99	19	22940690	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	17719586	22940690	36188293	88	12613											
ZNF347	84671	broad.mit.edu	37	19	53645135	53645135	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:53645135G>A	uc002qbc.2	-	4	1376	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	ZNF347_uc002qbb.2_Missense_Mutation_p.R316C|ZNF347_uc010eql.2_Missense_Mutation_p.R317C	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATTTGTAACGTTTTTCGCCA	0.373													A	53645135	G	A	53645135	3	1	181	1	0	0	0	0	1	0	0	0	17858	1145	40	1	1577	1	ZNF347	19	53645135	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	30704445	53645135	5483848	89	12614											
LILRA4	23547	broad.mit.edu	37	19	54850352	54850352	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:54850352G>C	uc002qfj.3	-	0	70	c.13C>G	c.(13-15)Ctc>Gtc	p.L5V	LILRA4_uc002qfi.3_5'UTR	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	5						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGGCTTGTGAGAATGAGGGTC	0.567													C	54850352	G	C	54850352	3	2	181	1	0	0	0	0	1	0	0	0	8787	942	33	5	1518	5	LILRA4	19	54850352	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	1205217	54850352	4278631	90	12615											
REM1	28954	broad.mit.edu	37	20	30065686	30065686	+	Silent	SNP	C	C	T	rs147559982		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr20:30065686C>T	uc002wwa.3	+	2	680	c.396C>T	c.(394-396)gtC>gtT	p.V132V		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	132					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACTGGTGGTCGTGGACACCT	0.572													T	30065686	C	T	30065686	2	4	181	1	0	0	0	0	0	0	0	1	13222	871	31	2		2	REM1	20	30065686	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08		30065686	32959834	91	12616											
PORCN	64840	broad.mit.edu	37	X	48371104	48371104	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:48371104G>A	uc010nie.1	+	5	841	c.683G>A	c.(682-684)cGc>cAc	p.R228H	PORCN_uc004djr.1_Missense_Mutation_p.R228H|PORCN_uc004djs.1_Missense_Mutation_p.R228H|PORCN_uc011mlx.1_Missense_Mutation_p.R157H|PORCN_uc004dju.1_Missense_Mutation_p.R97H|PORCN_uc004djv.1_Missense_Mutation_p.R228H|PORCN_uc004djw.1_Missense_Mutation_p.R228H	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	228			R -> C (in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance).		Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTCCTTCGCAAGTGAGCA	0.622													A	48371104	G	A	48371104	3	1	181	1	0	0	0	0	1	0	0	0	12258	1087	38	1	701	1	PORCN	23	48371104	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		48371104	106899456	92	12617											
PQBP1	10084	broad.mit.edu	37	X	48759746	48759746	+	Missense_Mutation	SNP	C	C	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:48759746C>T	uc004dlh.3	+	4	638	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	PQBP1_uc022bvv.1_Missense_Mutation_p.R169C|PQBP1_uc004dle.3_Missense_Mutation_p.R177C|PQBP1_uc004dlf.3_Missense_Mutation_p.R177C|PQBP1_uc004dlg.3_Missense_Mutation_p.R177C|PQBP1_uc004dln.3_Missense_Mutation_p.R177C|PQBP1_uc004dlk.3_Intron|PQBP1_uc004dli.3_Missense_Mutation_p.R177C|PQBP1_uc004dlj.1_Missense_Mutation_p.R177C|PQBP1_uc004dlm.3_Missense_Mutation_p.R135C|PQBP1_uc010nii.3_Missense_Mutation_p.R135C|PQBP1_uc004dll.3_Intron|PQBP1_uc022bvw.1_Non-coding_Transcript|PQBP1_uc022bvx.1_Intron|PQBP1_uc010nij.3_Missense_Mutation_p.R77C	NM_001032384	NP_005701	O60828	PQBP1_HUMAN	Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 5, mRNA.	177	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAAAGAACGGCGCCACCATCG	0.612													T	48759746	C	T	48759746	3	4	181	1	0	0	0	0	1	0	0	0	12417	768	27	1	543	1	PQBP1	23	48759746	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	388642	48759746	106510814	93	12618											
CHM	1121	broad.mit.edu	37	X	85156121	85156121	+	Missense_Mutation	SNP	A	A	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:85156121A>T	uc004eet.3	-	9	1347	c.1317T>A	c.(1315-1317)ttT>ttA	p.F439L	CHM_uc011mqz.2_Missense_Mutation_p.F291L	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	439					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGTTCTCAGGAAAGTAACTGT	0.393													T	85156121	A	T	85156121	3	4	181	1	0	0	0	0	1	0	0	0	3350	243	9	5	668	5	CHM	23	85156121	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	36396375	85156121	70114439	94	12619											
CXorf61	203413	broad.mit.edu	37	X	115592953	115592953	+	Silent	SNP	A	A	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:115592953A>C	uc004eqj.1	-	1	417	c.297T>G	c.(295-297)ctT>ctG	p.L99L		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.	99						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AACCCTTGCTAAGTAGAGTAT	0.418													C	115592953	A	C	115592953	2	2	181	1	0	0	0	0	0	0	0	1	4116	349	13	5		5	CXorf61	23	115592953	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	30436832	115592953	39677607	95	12620											
ARHGEF6	9459	broad.mit.edu	37	X	135825762	135825762	+	Missense_Mutation	SNP	G	G	A			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:135825762G>A	uc004fab.3	-	4	1105	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ARHGEF6_uc011mwd.2_Missense_Mutation_p.R61C|ARHGEF6_uc011mwe.2_Missense_Mutation_p.R61C	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	215	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R215H(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTAATTTCACGGACATAATTA	0.388													A	135825762	G	A	135825762	3	1	181	1	0	0	0	0	1	0	0	0	910	1116	39	2	1759	2	ARHGEF6	23	135825762	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	20232809	135825762	19444798	96	12621											
MCF2	4168	broad.mit.edu	37	X	138668562	138668562	+	Silent	SNP	C	C	T	rs142128026	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:138668562C>T	uc011mwn.1	-						MCF2_uc004fav.3_Silent_p.A885A|MCF2_uc004fau.3_Silent_p.A869A|MCF2_uc010nsh.2_Intron|MCF2_uc011mwm.2_Intron|MCF2_uc011mwl.2_Silent_p.A846A|MCF2_uc011mwo.1_Silent_p.A945A|MCF2_uc004faw.2_Silent_p.A929A	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTGAACTGACGCAATTGCCT	0.413													T	138668562	C	T	138668562	2	4	181	1	0	0	0	0	0	0	0	1	9378	523	19	1		1	MCF2	23	138668562	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08	2842800	138668562	16601998	97	12622											
IDS	3423	broad.mit.edu	37	X	148564457	148564457	+	Silent	SNP	G	G	T			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:148564457G>T	uc011mxe.2	-	8	1690	c.1473C>A	c.(1471-1473)tcC>tcA	p.S491S	IDS_uc011mxd.2_Silent_p.S94S|IDS_uc011mxf.2_Silent_p.S401S|IDS_uc011mxg.2_Silent_p.S280S|IDS_uc010nsu.2_Silent_p.S101S|IDS_uc004fcw.4_Silent_p.S280S	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	491			S -> F (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGTGCGTATGGAATAGCCCA	0.433													T	148564457	G	T	148564457	2	4	181	1	0	0	0	0	0	0	0	1	7503	1335	47	5		5	IDS	23	148564457	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	9895895	148564457	6706103	98	12623											
DKC1	1736	broad.mit.edu	37	X	154001511	154001511	+	Missense_Mutation	SNP	G	G	C			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:154001511G>C	uc004fmm.3	+	10	1352	c.1142G>C	c.(1141-1143)gGt>gCt	p.G381A	DKC1_uc010nvf.3_Missense_Mutation_p.G381A|SNORA56_uc004fmo.3_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	381					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAAGTGGGGTTTAGGTCCA	0.408									Congenital Dyskeratosis				C	154001511	G	C	154001511	3	2	181	1	0	0	0	0	1	0	0	0	4542	1261	44	5	1184	5	DKC1	23	154001511	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	5437054	154001511	1269049	99	12624											
COL16A1	1307	broad.mit.edu	37	1	32163660	32163660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:32163660C>T	uc001btk.1	-	5	869	c.504G>A	c.(502-504)tgG>tgA	p.W168*	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Nonsense_Mutation_p.W168*	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	168	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.R167S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCAGCTTGTGCCAACGCAAGT	0.642													T	32163660	C	T	32163660	4	4	182	1	0	0	0	0	0	1	0	0	3673	740	26	3	4574	3	COL16A1	1	32163660	Nonsense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		32163660	217086961	1	12625											
FGGY	55277	broad.mit.edu	37	1	59805657	59805657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:59805657C>T	uc009wac.3	+	2	441	c.229C>T	c.(229-231)Caa>Taa	p.Q77*	FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Nonsense_Mutation_p.Q77*|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	77					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TGATTTAAACCAAATTCGAGG	0.363													T	59805657	C	T	59805657	4	4	182	1	0	0	0	0	0	1	0	0	5871	595	21	3	235	3	FGGY	1	59805657	Nonsense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	27641997	59805657	189444964	2	12626											
MSH4	4438	broad.mit.edu	37	1	76349367	76349367	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:76349367A>T	uc001dhd.2	+	14	2083	c.1968A>T	c.(1966-1968)aaA>aaT	p.K656N		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	656					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCTTGAAAAAATATCTGCGG	0.313								Mismatch excision repair (MMR)					T	76349367	A	T	76349367	3	4	182	1	0	0	0	0	1	0	0	0	9872	11	1	5	2026	5	MSH4	1	76349367	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	16543710	76349367	172901254	3	12627											
SYCP1	6847	broad.mit.edu	37	1	115487554	115487554	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:115487554G>A	uc001efr.3	+	24	2314	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R702Q|SYCP1_uc009wgw.3_Missense_Mutation_p.R702Q	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	702					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.R702*(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGATAAGCGATGTCAACAT	0.254													A	115487554	G	A	115487554	3	1	182	1	0	0	0	0	1	0	0	0	15428	1058	37	2	2199	2	SYCP1	1	115487554	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	39138187	115487554	133763067	4	12628											
PTGFRN	5738	broad.mit.edu	37	1	117484643	117484643	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:117484643G>T	uc001egv.1	+	1	493	c.356G>T	c.(355-357)tGt>tTt	p.C119F		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	119	Ig-like C2-type 1.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CACTACAAATGTTCAACCCCC	0.562													T	117484643	G	T	117484643	3	4	182	1	0	0	0	0	1	0	0	0	12750	1377	48	5	362	5	PTGFRN	1	117484643	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	1997089	117484643	131765978	5	12629											
CR2	1380	broad.mit.edu	37	1	207649599	207649599	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:207649599C>T	uc001hfw.3	+	13	2679	c.2560C>T	c.(2560-2562)Ccg>Tcg	p.P854S	CR2_uc001hfv.3_Missense_Mutation_p.P913S|CR2_uc009xch.3_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	854	Sushi 14.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTGTCCACCTCCGCCTAAGAC	0.493													T	207649599	C	T	207649599	3	4	182	1	0	0	0	0	1	0	0	0	3842	855	30	3	2795	3	CR2	1	207649599	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	90164956	207649599	41601022	6	12630											
SOS1	6654	broad.mit.edu	37	2	39262448	39262448	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:39262448T>C	uc002rrk.4	-	7	1020	c.979A>G	c.(979-981)Ata>Gta	p.I327V	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_5'UTR|SOS1_uc002rrl.3_Missense_Mutation_p.I59V	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	327	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCTTCGCCTATTGACTGGAAA	0.338									Noonan syndrome				C	39262448	T	C	39262448	3	2	182	1	0	0	0	0	1	0	0	0	14936	1493	52	4	3086	4	SOS1	2	39262448	Missense_Mutation	SNP	T	TCGA-27-1830-01A-01W-0643-08		39262448	203936925	7	12631											
SLC4A5	57835	broad.mit.edu	37	2	74462257	74462257	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:74462257G>C	uc002sko.1	-	16	2406	c.2404C>G	c.(2404-2406)Ccc>Gcc	p.P802A	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.P802A|SLC4A5_uc010ffc.1_Missense_Mutation_p.P802A|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	802						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGCAGCTTGGGAGTTTCTAGG	0.547													C	74462257	G	C	74462257	3	2	182	1	0	0	0	0	1	0	0	0	14657	1174	41	5	1049	5	SLC4A5	2	74462257	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	35199809	74462257	168737116	8	12632											
LRP2	4036	broad.mit.edu	37	2	170092415	170092415	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:170092415G>A	uc002ues.3	-	28	5068	c.4855C>T	c.(4855-4857)Ctt>Ttt	p.L1619F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1619					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGTAATCAAGATAGGAGTCC	0.453													A	170092415	G	A	170092415	3	1	182	1	0	0	0	0	1	0	0	0	8956	942	33	3	9316	3	LRP2	2	170092415	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	95630158	170092415	73106958	9	12633											
TTN	7273	broad.mit.edu	37	2	179410964	179410964	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:179410964G>A	uc021vsy.1	-	290	87615	c.87390C>T	c.(87388-87390)gcC>gcT	p.A29130A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.A22825A|TTN_uc021vta.1_Silent_p.A22758A|TTN_uc021vtb.1_Silent_p.A22633A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30057	Fibronectin type-III 112.						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)			TGACAGACACGGCCTTGGTCC	0.428													A	179410964	G	A	179410964	2	1	182	1	0	0	0	0	0	0	0	1	16732	1103	39	2		2	TTN	2	179410964	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	9318549	179410964	63788409	10	12634											
TTN	7273	broad.mit.edu	37	2	179462736	179462736	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:179462736T>A	uc021vsy.1	-	241	49682	c.49457A>T	c.(49456-49458)aAg>aTg	p.K16486M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K10181M|TTN_uc021vta.1_Missense_Mutation_p.K10114M|TTN_uc021vtb.1_Missense_Mutation_p.K9989M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17413	Fibronectin type-III 19.						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)			TGCTCCTTCCTTTAATCCTGT	0.383													A	179462736	T	A	179462736	3	1	182	1	0	0	0	0	1	0	0	0	16732	1609	56	5	50812	5	TTN	2	179462736	Missense_Mutation	SNP	T	TCGA-27-1830-01A-01W-0643-08	51772	179462736	63736637	11	12635											
MAP2	4133	broad.mit.edu	37	2	210518141	210518141	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:210518141G>C	uc002vde.1	+	3	495	c.247G>C	c.(247-249)Gac>Cac	p.D83H	MAP2_uc002vdc.1_Missense_Mutation_p.D83H|MAP2_uc002vdd.1_Missense_Mutation_p.D83H|MAP2_uc002vdf.1_Missense_Mutation_p.D83H|MAP2_uc002vdg.1_Missense_Mutation_p.D83H|MAP2_uc002vdh.1_Missense_Mutation_p.D83H|MAP2_uc002vdi.1_Missense_Mutation_p.D83H	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	83					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GACCTCAGCTGACAGAGAAAC	0.463													C	210518141	G	C	210518141	3	2	182	1	0	0	0	0	1	0	0	0	9235	1290	45	5	249	5	MAP2	2	210518141	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	31055405	210518141	32681232	12	12636											
ST3GAL6	10402	broad.mit.edu	37	3	98506930	98506930	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr3:98506930C>T	uc003dtc.3	+	7	949	c.482C>T	c.(481-483)aCa>aTa	p.T161I	ST3GAL6_uc003dsy.3_Missense_Mutation_p.T75I|ST3GAL6_uc003dsz.3_Missense_Mutation_p.T161I|ST3GAL6_uc003dta.3_Missense_Mutation_p.T43I|ST3GAL6_uc010hpd.3_Missense_Mutation_p.T214I	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.	161					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GGGAGAAGGACAACCTTCCGA	0.378													T	98506930	C	T	98506930	3	4	182	1	0	0	0	0	1	0	0	0	15218	478	17	3	504	3	ST3GAL6	3	98506930	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		98506930	99515500	13	12637											
MYLK	4638	broad.mit.edu	37	3	123457797	123457797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr3:123457797G>A	uc003ego.3	-	6	817	c.535C>T	c.(535-537)Cga>Tga	p.R179*	MYLK_uc011bjw.2_Nonsense_Mutation_p.R179*|MYLK_uc003egp.3_Nonsense_Mutation_p.R179*|MYLK_uc003egq.3_Nonsense_Mutation_p.R179*|MYLK_uc003egr.3_Nonsense_Mutation_p.R179*|MYLK_uc003egs.3_Nonsense_Mutation_p.R3*|MYLK_uc010hrs.1_Nonsense_Mutation_p.R179*	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	179	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			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)		CAGGAGAATCGTCCCATCTGT	0.582													A	123457797	G	A	123457797	4	1	182	1	0	0	0	0	0	1	0	0	10056	1153	40	1	5321	1	MYLK	3	123457797	Nonsense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	24950867	123457797	74564633	14	12638											
DCUN1D4	23142	broad.mit.edu	37	4	52765498	52765498	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:52765498C>G	uc011bzo.2	+	7	708	c.701C>G	c.(700-702)tCt>tGt	p.S234C	DCUN1D4_uc003gze.3_Missense_Mutation_p.S190C|DCUN1D4_uc003gzf.3_Missense_Mutation_p.S190C|DCUN1D4_uc011bzn.2_Missense_Mutation_p.S130C|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	190	DCUN1.							p.P233S(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TTAAATGATTCTACAAACTTT	0.348													G	52765498	C	G	52765498	3	3	182	1	0	0	0	0	1	0	0	0	4316	913	32	5	599	5	DCUN1D4	4	52765498	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		52765498	138388778	15	12639											
EPHA5	2044	broad.mit.edu	37	4	66233108	66233108	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:66233108C>T	uc003hcy.3	-	9	2084	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	EPHA5_uc003hcx.3_Missense_Mutation_p.E563K|EPHA5_uc003hcz.3_Missense_Mutation_p.E609K|EPHA5_uc011cah.2_Missense_Mutation_p.E632K|EPHA5_uc011cai.2_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	631					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTTCCTCTTCTGGATCTTGT	0.358										TSP Lung(17;0.13)			T	66233108	C	T	66233108	3	4	182	1	0	0	0	0	1	0	0	0	5170	922	32	3	1258	3	EPHA5	4	66233108	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	13467610	66233108	124921168	16	12640											
SULT1B1	27284	broad.mit.edu	37	4	70596362	70596362	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:70596362A>G	uc003hen.3	-	6	933	c.635T>C	c.(634-636)cTa>cCa	p.L212P		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	212					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTCTCTAGAAATCTAAT	0.338													G	70596362	A	G	70596362	3	3	182	1	0	0	0	0	1	0	0	0	15373	420	15	4	263	4	SULT1B1	4	70596362	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	4363254	70596362	120557914	17	12641			1	31		2	2	22	A		4.070113e-05
SULT1B1	27284	broad.mit.edu	37	4	70596383	70596383	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:70596383A>C	uc003hen.3	-	6	912	c.614T>G	c.(613-615)aTc>aGc	p.I205S		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	205					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATCTTCTTGATTTCCTCCTT	0.328													C	70596383	A	C	70596383	3	2	182	1	0	0	0	0	1	0	0	0	15373	333	12	5	284	5	SULT1B1	4	70596383	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	21	70596383	120557893	18	12642			1	31		2	2	22	A		4.070113e-05
TACR3	6870	broad.mit.edu	37	4	104510963	104510963	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:104510963C>T	uc003hxe.1	-	4	1415	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	425						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCTTTTCTTCCGACTGGACCT	0.502													T	104510963	C	T	104510963	3	4	182	1	0	0	0	0	1	0	0	0	15504	652	23	2	127	2	TACR3	4	104510963	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	33914580	104510963	86643313	19	12643											
NDST3	9348	broad.mit.edu	37	4	119064755	119064755	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:119064755C>T	uc003ibx.3	+	5	1858	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	NDST3_uc011cgf.1_Silent_p.F404F	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	485	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACACCATTTTCTACAAAGAAT	0.383													T	119064755	C	T	119064755	2	4	182	1	0	0	0	0	0	0	0	1	10257	912	32	3		3	NDST3	4	119064755	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	14553792	119064755	72089521	20	12644											
DNAH5	1767	broad.mit.edu	37	5	13841162	13841162	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:13841162T>A	uc003jfd.2	-	33	5604	c.5562A>T	c.(5560-5562)aaA>aaT	p.K1854N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1854	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1853N(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)					TCTGCATGATTTTTTTATCAA	0.398									Kartagener syndrome				A	13841162	T	A	13841162	3	1	182	1	0	0	0	0	1	0	0	0	4604	1838	64	5	8496	5	DNAH5	5	13841162	Missense_Mutation	SNP	T	TCGA-27-1830-01A-01W-0643-08		13841162	167074098	21	12645											
MCCC2	64087	broad.mit.edu	37	5	70945048	70945048	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:70945048C>T	uc003kbs.4	+	13	1479	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	447	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CCTATGGAGCCGGAAACTATG	0.463													T	70945048	C	T	70945048	2	4	182	1	0	0	0	0	0	0	0	1	9375	639	23	2		2	MCCC2	5	70945048	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	57103886	70945048	109970212	22	12646											
SLC22A5	6584	broad.mit.edu	37	5	131729366	131729366	+	Splice_Site	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:131729366A>G	uc003kwx.4	+	10	1787	c.1523_splice	c.e10-2	p.G508_splice	SLC22A5_uc003kww.4_Splice_Site_p.G484_splice|SLC22A5_uc010jdr.1_Splice_Site_p.G104_splice	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	484			F -> L.		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCTTTGCCATAGGTGCCTACG	0.562													G	131729366	A	G	131729366	5	3	182	1	0	0	0	0	0	0	1	0	14457	434	15	4	1483	4	SLC22A5	5	131729366	Splice_Site	SNP	A	TCGA-27-1830-01A-01W-0643-08	60784318	131729366	49185894	23	12647											
MAT2B	27430	broad.mit.edu	37	5	162945327	162945327	+	Silent	SNP	T	T	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:162945327T>G	uc003lzk.3	+	6	1071	c.963T>G	c.(961-963)ccT>ccG	p.P321P	MAT2B_uc003lzj.3_Silent_p.P310P|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.3_Silent_p.P61P	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	321					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	p.T320M(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CACTTTGGCCTTTCCTCATTG	0.388													G	162945327	T	G	162945327	2	3	182	1	0	0	0	0	0	0	0	1	9331	1596	56	5		5	MAT2B	5	162945327	Silent	SNP	T	TCGA-27-1830-01A-01W-0643-08	31215961	162945327	17969933	24	12648											
PKHD1	5314	broad.mit.edu	37	6	51941121	51941121	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:51941121G>A	uc003pah.1	-	5	677	c.401C>T	c.(400-402)gCg>gTg	p.A134V	PKHD1_uc003pai.3_Missense_Mutation_p.A134V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	134					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.A134V(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)					GGGTGTCTGCGCCTTGGAAAA	0.393													A	51941121	G	A	51941121	3	1	182	1	0	0	0	0	1	0	0	0	11971	1087	38	1	12110	1	PKHD1	6	51941121	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08		51941121	119173946	25	12649											
IBTK	25998	broad.mit.edu	37	6	82924066	82924066	+	Silent	SNP	A	A	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:82924066A>C	uc003pjl.1	-	11	2609	c.2082T>G	c.(2080-2082)gtT>gtG	p.V694V	IBTK_uc011dyv.1_Silent_p.V694V|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.V388V|IBTK_uc003pjm.2_Silent_p.V694V	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	694					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCCTCTCACTAACTGTTTGAG	0.338													C	82924066	A	C	82924066	2	2	182	1	0	0	0	0	0	0	0	1	7476	349	13	5		5	IBTK	6	82924066	Silent	SNP	A	TCGA-27-1830-01A-01W-0643-08	30982945	82924066	88191001	26	12650											
SESN1	27244	broad.mit.edu	37	6	109319765	109319765	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:109319765C>T	uc003psu.3	-	4	1355	c.923G>A	c.(922-924)gGc>gAc	p.G308D	SESN1_uc021zdp.1_Missense_Mutation_p.G183D|SESN1_uc003pst.4_Missense_Mutation_p.G249D	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	249					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ACTGTGATTGCCATTTGTAAT	0.398													T	109319765	C	T	109319765	3	4	182	1	0	0	0	0	1	0	0	0	14124	739	26	3	756	3	SESN1	6	109319765	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	26395699	109319765	61795302	27	12651											
ZNF804B	219578	broad.mit.edu	37	7	88966247	88966247	+	Silent	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:88966247A>G	uc011khi.2	+	3	4489	c.3951A>G	c.(3949-3951)gtA>gtG	p.V1317V		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1317						intracellular	zinc ion binding			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)			TCCAACCAGTATTCCAAGGTC	0.413										HNSCC(36;0.09)			G	88966247	A	G	88966247	2	3	182	1	0	0	0	0	0	0	0	1	18168	436	16	4		4	ZNF804B	7	88966247	Silent	SNP	A	TCGA-27-1830-01A-01W-0643-08		88966247	70172416	28	12652											
PPP1R3A	5506	broad.mit.edu	37	7	113518248	113518248	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:113518248G>T	uc010ljy.1	-	3	2930	c.2899C>A	c.(2899-2901)Cct>Act	p.P967T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	967					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGGATAAGGGTGCTTCTCA	0.383													T	113518248	G	T	113518248	3	4	182	1	0	0	0	0	1	0	0	0	12371	1232	43	5	473	5	PPP1R3A	7	113518248	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	24552001	113518248	45620415	29	12653											
PLXNA4	91584	broad.mit.edu	37	7	131866156	131866156	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:131866156G>A	uc003vra.4	-	17	3705	c.3476C>T	c.(3475-3477)aCg>aTg	p.T1159M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1159	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane		p.T1159M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GATGATGGGCGTGCCAGGCTT	0.582													A	131866156	G	A	131866156	3	1	182	1	0	0	0	0	1	0	0	0	12122	1145	40	1	2268	1	PLXNA4	7	131866156	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	18347908	131866156	27272507	30	12654											
GIMAP8	155038	broad.mit.edu	37	7	150171329	150171329	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:150171329G>A	uc003whj.3	+	3	1242	c.912G>A	c.(910-912)ccG>ccA	p.P304P		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	304						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			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)		TTGATGCTCCGGACATCTCAT	0.458													A	150171329	G	A	150171329	2	1	182	1	0	0	0	0	0	0	0	1	6385	1103	39	2		2	GIMAP8	7	150171329	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	18305173	150171329	8967334	31	12655											
TEX15	56154	broad.mit.edu	37	8	30702861	30702861	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr8:30702861C>T	uc003xil.3	-	0	3673	c.3673G>A	c.(3673-3675)Gct>Act	p.A1225T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1225										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)		ACTTCATTAGCGTCACAACTG	0.299													T	30702861	C	T	30702861	3	4	182	1	0	0	0	0	1	0	0	0	15776	768	27	1	4712	1	TEX15	8	30702861	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		30702861	115661161	32	12656											
FAM135B	51059	broad.mit.edu	37	8	139209806	139209806	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr8:139209806A>G	uc003yuy.3	-	7	947	c.776T>C	c.(775-777)tTc>tCc	p.F259S	FAM135B_uc003yux.3_Missense_Mutation_p.F160S|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	259										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCACCAGGAAGTGGAGACG	0.612										HNSCC(54;0.14)			G	139209806	A	G	139209806	3	3	182	1	0	0	0	0	1	0	0	0	5449	246	9	4	3496	4	FAM135B	8	139209806	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	108506945	139209806	7154216	33	12657											
ZNF79	7633	broad.mit.edu	37	9	130206381	130206381	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr9:130206381G>C	uc004bqw.4	+	4	816	c.402G>C	c.(400-402)gaG>gaC	p.E134D	ZNF79_uc011maf.2_Missense_Mutation_p.E110D|ZNF79_uc011mag.2_Missense_Mutation_p.E110D	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CATGTGTAGAGATGCCCCCTG	0.502													C	130206381	G	C	130206381	3	2	182	1	0	0	0	0	1	0	0	0	18158	933	33	5	420	5	ZNF79	9	130206381	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08		130206381	11007050	34	12658											
ANK3	288	broad.mit.edu	37	10	61836046	61836046	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:61836046C>T	uc001jky.3	-	36	4931	c.4593G>A	c.(4591-4593)acG>acA	p.T1531T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1531	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGCTGATGGCGTATTAGAGG	0.443													T	61836046	C	T	61836046	2	4	182	1	0	0	0	0	0	0	0	1	622	755	27	1		1	ANK3	10	61836046	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08		61836046	73698701	35	12659											
TLL2	7093	broad.mit.edu	37	10	98157009	98157009	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:98157009G>A	uc001kml.2	-	10	1559	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	TLL2_uc009xvf.2_Missense_Mutation_p.R418W	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	440	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R440R(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACCCAGAGCCGGCTGTCCGTG	0.587													A	98157009	G	A	98157009	3	1	182	1	0	0	0	0	1	0	0	0	15943	1115	39	2	1773	2	TLL2	10	98157009	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	36320963	98157009	37377738	36	12660											
RAG1	5896	broad.mit.edu	37	11	36596877	36596877	+	Silent	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr11:36596877C>T	uc021qgb.1	+	0	2023	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.L675L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	675					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GACTGCCATCCTGAGTCCTCT	0.498									Familial Hemophagocytic Lymphohistiocytosis				T	36596877	C	T	36596877	2	4	182	1	0	0	0	0	0	0	0	1	13003	680	24	3		3	RAG1	11	36596877	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08		36596877	98409639	37	12661											
FOLH1	2346	broad.mit.edu	37	11	49186293	49186293	+	Silent	SNP	C	C	T	rs141224157	by1000genomes	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr11:49186293C>T	uc001ngy.3	-	12	1665	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_uc009yly.3_Silent_p.P453P|FOLH1_uc009ylz.3_Silent_p.P453P|FOLH1_uc001ngz.3_Silent_p.P468P|FOLH1_uc009yma.3_Silent_p.P160P	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	468	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGTACATCAGCGGTGTACAAT	0.284													T	49186293	C	T	49186293	2	4	182	1	0	0	0	0	0	0	0	1	5979	755	27	1		1	FOLH1	11	49186293	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	12589416	49186293	85820223	38	12662											
VWF	7450	broad.mit.edu	37	12	6127888	6127888	+	Nonsense_Mutation	SNP	G	G	A	rs61750112		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:6127888G>A	uc001qnn.1	-	27	4946	c.4696C>T	c.(4696-4698)Cga>Tga	p.R1566*	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1566	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGGATCTCTCGCACCCGCTGC	0.622													A	6127888	G	A	6127888	4	1	182	1	0	0	0	0	0	1	0	0	17243	1095	38	1	3845	1	VWF	12	6127888	Nonsense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08		6127888	127724007	39	12663											
CD163L1	283316	broad.mit.edu	37	12	7528295	7528295	+	Splice_Site	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:7528295C>T	uc010sge.2	-	10	2742	c.2716_splice	c.e10+1	p.R906_splice	CD163L1_uc001qsy.3_Splice_Site_p.R896_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	896	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.?(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAAATCTCACGGGAACAGAC	0.468													T	7528295	C	T	7528295	5	4	182	1	0	0	0	0	0	0	1	0	2968	550	19	1	1714	1	CD163L1	12	7528295	Splice_Site	SNP	C	TCGA-27-1830-01A-01W-0643-08	1400407	7528295	126323600	40	12664											
KRT8	3856	broad.mit.edu	37	12	53294405	53294405	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:53294405G>A	uc009zmk.1	-	4	761	c.741C>T	c.(739-741)gaC>gaT	p.D247D	KRT8_uc001sbd.2_Silent_p.D219D|KRT8_uc009zml.1_Silent_p.D219D|KRT8_uc009zmm.1_Silent_p.D219D	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	219	Linker 12.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTTGATCTCGTCGGTCAGCC	0.572													A	53294405	G	A	53294405	2	1	182	1	0	0	0	0	0	0	0	1	8493	1136	40	1		1	KRT8	12	53294405	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	45766110	53294405	80557490	41	12665											
IRAK3	11213	broad.mit.edu	37	12	66597512	66597512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:66597512G>A	uc001sth.3	+	1	257	c.155G>A	c.(154-156)tGg>tAg	p.W52*	IRAK3_uc010ssy.2_Intron	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	52	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCAAGCAGCTGGCTGGATGTT	0.363													A	66597512	G	A	66597512	4	1	182	1	0	0	0	0	0	1	0	0	7824	1357	47	3	161	3	IRAK3	12	66597512	Nonsense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	13303107	66597512	67254383	42	12666											
SBNO1	55206	broad.mit.edu	37	12	123794321	123794321	+	Silent	SNP	C	C	T	rs145298684	by1000genomes	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:123794321C>T	uc010tap.2	-	24	3378	c.3378G>A	c.(3376-3378)gcG>gcA	p.A1126A	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.A1125A|SBNO1_uc010taq.2_Silent_p.A77A|SBNO1_uc001ues.1_Silent_p.A77A	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1126							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAAGTGTGTCCGCAAAATACT	0.358													T	123794321	C	T	123794321	2	4	182	1	0	0	0	0	0	0	0	1	13862	639	23	2		2	SBNO1	12	123794321	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	57196809	123794321	10057574	43	12667											
CLCN7	1186	broad.mit.edu	37	16	1498997	1498997	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:1498997G>A	uc002clv.2	-	18	1877	c.1767C>T	c.(1765-1767)acC>acT	p.T589T	CLCN7_uc002clu.2_Silent_p.T37T|CLCN7_uc002clw.2_Silent_p.T565T	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	589						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGATCTTGGCGGTCATGAGCA	0.632													A	1498997	G	A	1498997	2	1	182	1	0	0	0	0	0	0	0	1	3468	1103	39	2		2	CLCN7	16	1498997	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08		1498997	88855756	44	12668											
CLCN7	1186	broad.mit.edu	37	16	1510943	1510943	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:1510943G>A	uc002clv.2	-	4	468	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CLCN7_uc002clw.2_Missense_Mutation_p.R96W	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	120						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCCACCGTCCGGAAGGCCTGC	0.682													A	1510943	G	A	1510943	3	1	182	1	0	0	0	0	1	0	0	0	3468	1115	39	2	2143	2	CLCN7	16	1510943	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	11946	1510943	88843810	45	12669											
ZNF19	7567	broad.mit.edu	37	16	71509676	71509676	+	Silent	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:71509676G>A	uc010cgc.1	-	5	1280	c.774C>T	c.(772-774)tcC>tcT	p.S258S	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Silent_p.S246S|ZNF19_uc002fal.1_Silent_p.S246S|ZNF19_uc002fam.1_Silent_p.S258S	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TAACAAACTCGGAACTACTCG	0.438													A	71509676	G	A	71509676	2	1	182	1	0	0	0	0	0	0	0	1	17752	1103	39	2		2	ZNF19	16	71509676	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	69998733	71509676	18845077	46	12670											
CHST6	4166	broad.mit.edu	37	16	75513068	75513068	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:75513068C>T	uc021tlj.1	-	0	659	c.659G>A	c.(658-660)cGt>cAt	p.R220H	CHST6_uc002fef.3_Missense_Mutation_p.R220H|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.R220H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	220					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCGTTGTCACGCGCCAGAGC	0.721													T	75513068	C	T	75513068	3	4	182	1	0	0	0	0	1	0	0	0	3408	536	19	1	532	1	CHST6	16	75513068	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	4003392	75513068	14841685	47	12671											
SLC38A8	146167	broad.mit.edu	37	16	84066963	84066963	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:84066963G>A	uc002fhg.1	-	2	500	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	167					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GATCTCCCGCGGGGCAGACAG	0.652													A	84066963	G	A	84066963	3	1	182	1	0	0	0	0	1	0	0	0	14610	1116	39	2	839	2	SLC38A8	16	84066963	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	8553895	84066963	6287790	48	12672											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	182	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		7577538	73617672	49	12673											
MSL1	339287	broad.mit.edu	37	17	38285515	38285515	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:38285515G>A	uc002hub.3	+	2	426	c.407G>A	c.(406-408)aGt>aAt	p.S136N	MSL1_uc002hua.4_Missense_Mutation_p.S74N|MSL1_uc002huc.2_Missense_Mutation_p.S74N|MSL1_uc021txa.1_Non-coding_Transcript|MSL1_uc002hud.3_5'Flank	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	Homo sapiens male-specific lethal 1 homolog (Drosophila) (MSL1), mRNA.	337	Pro-rich.				histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CCATTTGGAAGTACAGAAAGA	0.333													A	38285515	G	A	38285515	3	1	182	1	0	0	0	0	1	0	0	0	9877	1029	36	3	227	3	MSL1	17	38285515	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	30707977	38285515	42909695	50	12674											
IFI35	3430	broad.mit.edu	37	17	41166266	41166266	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:41166266G>A	uc021txx.1	+	6	1040	c.817G>A	c.(817-819)Gta>Ata	p.V273I		NM_005533	NP_005524	P80217	IN35_HUMAN	Homo sapiens interferon-induced protein 35 (IFI35), mRNA.	271				EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry).	response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CCTGACAGTCGTACCCCAAGG	0.632													A	41166266	G	A	41166266	3	1	182	1	0	0	0	0	1	0	0	0	7516	1145	40	1	843	1	IFI35	17	41166266	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	2880751	41166266	40028944	51	12675											
ACE	1636	broad.mit.edu	37	17	61566027	61566027	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:61566027C>T	uc002jau.2	+	15	2358	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	ACE_uc010wpj.2_Missense_Mutation_p.A201V|ACE_uc010ddv.2_Missense_Mutation_p.A2V|ACE_uc002jav.2_Missense_Mutation_p.A201V|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.A85V	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	775	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AATGTGATGGCCACGTCCCGG	0.542													T	61566027	C	T	61566027	3	4	182	1	0	0	0	0	1	0	0	0	136	739	26	3	2589	3	ACE	17	61566027	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	20399761	61566027	19629183	52	12676											
DSG3	1830	broad.mit.edu	37	18	29054117	29054117	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr18:29054117C>T	uc002kws.3	+	14	2244	c.2135C>T	c.(2134-2136)gCg>gTg	p.A712V	DSG3_uc002kwt.3_5'UTR	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	712					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGAGGCACAGCGGTGGAAGGC	0.443													T	29054117	C	T	29054117	3	4	182	1	0	0	0	0	1	0	0	0	4778	768	27	1	2193	1	DSG3	18	29054117	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		29054117	49023131	53	12677											
ATP5A1	498	broad.mit.edu	37	18	43667414	43667414	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr18:43667414C>A	uc002lbr.1	-	6	934	c.844G>T	c.(844-846)Gct>Tct	p.A282S	ATP5A1_uc010dnl.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbs.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbt.1_Missense_Mutation_p.A282S	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	282					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGTGGGGCAGCATCCGAGGCC	0.423													A	43667414	C	A	43667414	3	1	182	1	0	0	0	0	1	0	0	0	1147	710	25	5	841	5	ATP5A1	18	43667414	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	14613297	43667414	34409834	54	12678											
ZNF429	353088	broad.mit.edu	37	19	21712573	21712573	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:21712573C>A	uc002nqd.1	+	1	254	c.117C>A	c.(115-117)aaC>aaA	p.N39K	ZNF429_uc010ecu.2_Missense_Mutation_p.N39K	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTACAGAAACTTGGTCTTCC	0.378													A	21712573	C	A	21712573	3	1	182	1	0	0	0	0	1	0	0	0	17899	564	20	5	123	5	ZNF429	19	21712573	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		21712573	37416410	55	12679											
CPT1C	126129	broad.mit.edu	37	19	50208532	50208532	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:50208532C>T	uc010eng.3	+	9	1257	c.941C>T	c.(940-942)aCg>aTg	p.T314M	CPT1C_uc002ppl.4_Missense_Mutation_p.T280M|CPT1C_uc002ppi.3_Missense_Mutation_p.T231M|CPT1C_uc002ppk.3_Missense_Mutation_p.T303M|CPT1C_uc010enh.3_Missense_Mutation_p.T314M|CPT1C_uc002ppj.3_Missense_Mutation_p.T314M|CPT1C_uc010ybc.1_Missense_Mutation_p.T185M|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	314					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.T314K(2)		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)		TTCAACACCACGCGGATTCCA	0.552													T	50208532	C	T	50208532	3	4	182	1	0	0	0	0	1	0	0	0	3833	536	19	1	971	1	CPT1C	19	50208532	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	28495959	50208532	8920451	56	12680											
XKR7	343702	broad.mit.edu	37	20	30584473	30584473	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr20:30584473C>T	uc002wxe.3	+	2	1127	c.953C>T	c.(952-954)gCg>gTg	p.A318V		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	318						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCCTTCGCGCTCTTCGCC	0.637													T	30584473	C	T	30584473	3	4	182	1	0	0	0	0	1	0	0	0	17433	768	27	1	963	1	XKR7	20	30584473	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		30584473	32441047	57	12681											
JPH2	57158	broad.mit.edu	37	20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr20:42788430C>T	uc002xli.1	-	1	1870	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	333					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662													T	42788430	C	T	42788430	3	4	182	1	0	0	0	0	1	0	0	0	7961	884	31	2	1109	2	JPH2	20	42788430	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	12203957	42788430	20237090	58	12682											
PCBP3	54039	broad.mit.edu	37	21	47349908	47349908	+	Silent	SNP	C	C	A			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr21:47349908C>A	uc010gqb.3	+	12	1059	c.796_splice	c.e12+1	p.G266_splice	PCBP3_uc002zhp.2_Splice_Site_p.G266_splice|PCBP3_uc002zhq.2_Splice_Site_p.G266_splice|PCBP3_uc002zhs.2_Splice_Site_p.G240_splice|PCBP3_uc002zht.2_Splice_Site_p.G256_splice	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	266					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCTTTCCCCGGTACGTACC	0.567													A	47349908	C	A	47349908	2	1	182	1	0	0	0	0	0	0	0	1	11502	666	23	5		5	PCBP3	21	47349908	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08		47349908	779987	59	12683											
ZCCHC5	203430	broad.mit.edu	37	X	77913028	77913028	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chrX:77913028A>G	uc022bzi.1	-	0	890	c.890T>C	c.(889-891)aTc>aCc	p.I297T	ZCCHC5_uc004edc.1_Missense_Mutation_p.I297T	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	297							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGGGCTTTGGATATCCAGTAA	0.483													G	77913028	A	G	77913028	3	3	182	1	0	0	0	0	1	0	0	0	17588	333	12	4	541	4	ZCCHC5	23	77913028	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08		77913028	77357532	60	12684											
AGMAT	79814	broad.mit.edu	37	1	15904246	15904246	+	Silent	SNP	G	G	A	rs148750290	by1000genomes	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:15904246G>A	uc001awv.2	-	4	977	c.834C>T	c.(832-834)gaC>gaT	p.D278D	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	278					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGAGCGTCAATATCAA	0.532													A	15904246	G	A	15904246	2	1	183	1	0	0	0	0	0	0	0	1	385	1136	40	1		1	AGMAT	1	15904246	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08		15904246	233346375	1	12685											
EPHA8	2046	broad.mit.edu	37	1	22924647	22924647	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:22924647G>A	uc001bfx.1	+	11	2245	c.2120G>A	c.(2119-2121)cGc>cAc	p.R707H		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	707	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCCCAGGCCGCCTGGCAATG	0.622													A	22924647	G	A	22924647	3	1	183	1	0	0	0	0	1	0	0	0	5173	1087	38	1	2339	1	EPHA8	1	22924647	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	7020401	22924647	226325974	2	12686											
HTR1D	3352	broad.mit.edu	37	1	23520071	23520071	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:23520071G>A	uc001bgn.3	-	0	1152	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	214					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CATATAGGATGATGAGCAACA	0.577													A	23520071	G	A	23520071	2	1	183	1	0	0	0	0	0	0	0	1	7438	1280	45	3		3	HTR1D	1	23520071	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	595424	23520071	225730550	3	12687											
KLHDC9	126823	broad.mit.edu	37	1	161068632	161068632	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:161068632C>T	uc001fxr.3	+	0	452	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	KLHDC9_uc001fxq.3_5'UTR|KLHDC9_uc021pbt.1_5'UTR|KLHDC9_uc021pbu.1_Missense_Mutation_p.R103C|KLHDC9_uc001fxs.3_Missense_Mutation_p.R103C	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.	103										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CGGGTCTCGCCGCTTGGCCAC	0.726													T	161068632	C	T	161068632	3	4	183	1	0	0	0	0	1	0	0	0	8364	652	23	2	309	2	KLHDC9	1	161068632	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	137548561	161068632	88181989	4	12688											
ADAMTS4	9507	broad.mit.edu	37	1	161165991	161165991	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:161165991G>T	uc001fyt.4	-	2	1488	c.1060C>A	c.(1060-1062)Cag>Aag	p.Q354K	ADAMTS4_uc001fyu.2_3'UTR	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	354	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGGCTGACTGGAGCCCATCA	0.577													T	161165991	G	T	161165991	3	4	183	1	0	0	0	0	1	0	0	0	268	1357	47	5	1481	5	ADAMTS4	1	161165991	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	97359	161165991	88084630	5	12689											
KDM5B	10765	broad.mit.edu	37	1	202718129	202718129	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:202718129C>A	uc009xag.3	-	14	2184	c.2068G>T	c.(2068-2070)Gac>Tac	p.D690Y	KDM5B_uc001gyf.3_Missense_Mutation_p.D654Y|KDM5B_uc001gyg.1_Missense_Mutation_p.D496Y	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	654					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATGGCCATGTCTTTCTGAACA	0.403													A	202718129	C	A	202718129	3	1	183	1	0	0	0	0	1	0	0	0	8134	913	32	5	2730	5	KDM5B	1	202718129	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	41552138	202718129	46532492	6	12690											
USH2A	7399	broad.mit.edu	37	1	215972257	215972257	+	Missense_Mutation	SNP	C	C	T	rs140746096		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:215972257C>T	uc001hku.1	-	49	10337	c.9950G>A	c.(9949-9951)cGc>cAc	p.R3317H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3317					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		ACCTGGAAGGCGATTGTACAC	0.473										HNSCC(13;0.011)			T	215972257	C	T	215972257	3	4	183	1	0	0	0	0	1	0	0	0	17033	768	27	1	5750	1	USH2A	1	215972257	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	13254128	215972257	33278364	7	12691											
C1orf65	164127	broad.mit.edu	37	1	223568231	223568231	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:223568231C>T	uc001hoa.2	+	0	1517	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	472										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAGCGGCAACGCGAGCTGAG	0.607													T	223568231	C	T	223568231	3	4	183	1	0	0	0	0	1	0	0	0	2055	536	19	1	1416	1	C1orf65	1	223568231	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	7595974	223568231	25682390	8	12692											
RYR2	6262	broad.mit.edu	37	1	237863751	237863751	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:237863751C>T	uc001hyl.1	+	64	9471	c.9351C>T	c.(9349-9351)ttC>ttT	p.F3117F	RYR2_uc010pxz.1_Silent_p.F72F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3117					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			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)			AGCATCAGTTCGGAGAAGACC	0.373													T	237863751	C	T	237863751	2	4	183	1	0	0	0	0	0	0	0	1	13769	883	31	2		2	RYR2	1	237863751	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08	14295520	237863751	11386870	9	12693											
NLRP3	114548	broad.mit.edu	37	1	247587925	247587925	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:247587925G>T	uc001icr.3	+	4	1318	c.1180G>T	c.(1180-1182)Gca>Tca	p.A394S	NLRP3_uc001ics.3_Missense_Mutation_p.A394S|NLRP3_uc001icu.3_Missense_Mutation_p.A394S|NLRP3_uc001icw.3_Missense_Mutation_p.A394S|NLRP3_uc001icv.3_Missense_Mutation_p.A394S|NLRP3_uc010pyw.2_Missense_Mutation_p.A392S|NLRP3_uc001ict.1_Missense_Mutation_p.A392S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	394	NACHT.				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			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)			CCAAGCCAGGGCAGCCTTCAG	0.537													T	247587925	G	T	247587925	3	4	183	1	0	0	0	0	1	0	0	0	10478	1203	42	5	1190	5	NLRP3	1	247587925	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	9724174	247587925	1662696	10	12694											
KCNS3	3790	broad.mit.edu	37	2	18112318	18112318	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:18112318G>A	uc021veh.1	+	0	43	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	KCNS3_uc002rcv.3_Missense_Mutation_p.E15K|KCNS3_uc002rcw.3_Missense_Mutation_p.E15K	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	15					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACAAGACGAGGAACTTGTCAA	0.537													A	18112318	G	A	18112318	3	1	183	1	0	0	0	0	1	0	0	0	8090	1175	41	3	45	3	KCNS3	2	18112318	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		18112318	225087055	11	12695											
APOB	338	broad.mit.edu	37	2	21227512	21227512	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:21227512C>T	uc002red.3	-	26	11952	c.11824G>A	c.(11824-11826)Gcc>Acc	p.A3942T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3942					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTCTTAGAGGCTAACGTACCA	0.358													T	21227512	C	T	21227512	3	4	183	1	0	0	0	0	1	0	0	0	785	797	28	3	1879	3	APOB	2	21227512	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	3115194	21227512	221971861	12	12696											
GPD2	2820	broad.mit.edu	37	2	157407115	157407115	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:157407115G>A	uc002tzf.4	+	8	1187	c.827_splice	c.e8-1	p.G276_splice	GPD2_uc010zch.2_Splice_Site_p.G49_splice|GPD2_uc002tzd.4_Splice_Site_p.G276_splice|GPD2_uc002tze.1_Splice_Site	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	276					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CTTTCACAGGGCAGGAATTTG	0.438													A	157407115	G	A	157407115	2	1	183	1	0	0	0	0	0	0	0	1	6606	1217	42	3		3	GPD2	2	157407115	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	136179603	157407115	85792258	13	12697											
UGT1A1	54577	broad.mit.edu	37	2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:234591304G>A	uc002vut.3	+	0	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.A241T	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	244					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCTGTCACGGCATATGATCT	0.413													A	234591304	G	A	234591304	3	1	183	1	0	0	0	0	1	0	0	0	16941	1203	42	3		3	UGT1A1	2	234591304	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	77184189	234591304	8608069	14	12698											
COL6A3	1293	broad.mit.edu	37	2	238275630	238275630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:238275630C>A	uc002vwl.2	-	10	5485	c.5200G>T	c.(5200-5202)Gag>Tag	p.E1734*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.E1528*|COL6A3_uc010znj.1_Nonsense_Mutation_p.E1127*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1734	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		CTGCCTGCCTCAGGCACAAAG	0.572													A	238275630	C	A	238275630	4	1	183	1	0	0	0	0	0	1	0	0	3701	835	29	5	4469	5	COL6A3	2	238275630	Nonsense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	3684326	238275630	4923743	15	12699											
CDCP1	64866	broad.mit.edu	37	3	45132920	45132920	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr3:45132920C>T	uc003com.3	-	6	1873	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	580						extracellular region|integral to membrane|plasma membrane				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)		TCTCTGGGCACGCTGATGTTC	0.607													T	45132920	C	T	45132920	3	4	183	1	0	0	0	0	1	0	0	0	3093	536	19	1	784	1	CDCP1	3	45132920	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		45132920	152889510	16	12700											
GSK3B	2932	broad.mit.edu	37	3	119812236	119812236	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr3:119812236G>C	uc003edo.3	-	0	1029	c.46C>G	c.(46-48)Ccg>Gcg	p.P16A	GSK3B_uc003edn.3_Missense_Mutation_p.P16A|BC035247_uc003edp.3_5'Flank	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	16					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGCTGCACCGGCTTGCAGCTC	0.483													C	119812236	G	C	119812236	3	2	183	1	0	0	0	0	1	0	0	0	6824	1203	42	5	1303	5	GSK3B	3	119812236	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	74679316	119812236	78210194	17	12701											
WFS1	7466	broad.mit.edu	37	4	6302612	6302612	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:6302612G>A	uc003giy.3	+	7	1256	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	WFS1_uc003gix.3_Missense_Mutation_p.V364M|WFS1_uc003giz.3_Missense_Mutation_p.V182M	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	364					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CACCCTCAAGGTGTTCCAGGA	0.572													A	6302612	G	A	6302612	3	1	183	1	0	0	0	0	1	0	0	0	17357	1261	44	3	1116	3	WFS1	4	6302612	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		6302612	184851664	18	12702											
TLR6	10333	broad.mit.edu	37	4	38830723	38830723	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:38830723C>T	uc010ifg.2	-	1	493	c.372G>A	c.(370-372)agG>agA	p.R124R	TLR6_uc003gtm.3_Silent_p.R124R	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	124					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATCTAAATGCCTGAAACTCA	0.363													T	38830723	C	T	38830723	2	4	183	1	0	0	0	0	0	0	0	1	15952	738	26	3		3	TLR6	4	38830723	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08	32528111	38830723	152323553	19	12703											
PDGFRA	5156	broad.mit.edu	37	4	55155241	55155241	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:55155241G>C	uc003han.4	+	20	3171	c.2840G>C	c.(2839-2841)aGt>aCt	p.S947T	PDGFRA_uc003haa.3_Missense_Mutation_p.S707T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	947	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			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)	TACCACCTGAGTGAGATTGTG	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55155241	G	C	55155241	3	2	183	1	0	0	0	0	1	0	0	0	11661	1029	36	5	2918	5	PDGFRA	4	55155241	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	16324518	55155241	135999035	20	12704											
PDCL2	132954	broad.mit.edu	37	4	56435994	56435994	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:56435994T>C	uc003hbb.3	-	3	356	c.253A>G	c.(253-255)Aaa>Gaa	p.K85E		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	85										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTTTGTTTTTTCTTAAGAGCT	0.289													C	56435994	T	C	56435994	3	2	183	1	0	0	0	0	1	0	0	0	11627	1792	62	4	484	4	PDCL2	4	56435994	Missense_Mutation	SNP	T	TCGA-27-1831-01A-01D-1494-08	1280753	56435994	134718282	21	12705											
PPBP	5473	broad.mit.edu	37	4	74853312	74853312	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:74853312G>T	uc003hhj.3	-	1	293	c.206C>A	c.(205-207)aCc>aAc	p.T69N		NM_002704	NP_002695	P02775	CXCL7_HUMAN	Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.	69					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AATTCCAGAGGTTGTCTTTAT	0.418													T	74853312	G	T	74853312	3	4	183	1	0	0	0	0	1	0	0	0	12303	1261	44	5	188	5	PPBP	4	74853312	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	18417318	74853312	116300964	22	12706											
TTC29	83894	broad.mit.edu	37	4	147824706	147824706	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:147824706G>A	uc003ikx.4	-	6	904	c.654C>T	c.(652-654)taC>taT	p.Y218Y	TTC29_uc003ikw.4_Silent_p.Y192Y|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Silent_p.Y192Y	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	192							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CATCTTCCTCGTAGAGAAGAC	0.458													A	147824706	G	A	147824706	2	1	183	1	0	0	0	0	0	0	0	1	16693	1140	40	1		1	TTC29	4	147824706	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	72971394	147824706	43329570	23	12707											
WWC2	80014	broad.mit.edu	37	4	184166575	184166576	+	Frame_Shift_Ins	INS	-	-	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:184166575_184166576insA	uc010irx.3	+	5	791_792	c.609_610insA	c.(607-612)gataaafs	p.D203fs	WWC2_uc003ivk.4_5'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Intron	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	203										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ACAGAATTGATAAAAAAATGTC	0.356													A	184166576	-	A	184166575	7	5	183	1	0	1	1	0	0	0	0	0	17409	1403	49	0	631	0	WWC2	4	184166575	Frame_Shift_Ins	INS	-	TCGA-27-1831-01A-01D-1494-08	36341869	184166575	6987701	24	12708											
CDC20B	166979	broad.mit.edu	37	5	54423154	54423154	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:54423154C>T	uc003jpo.2	-	7	1097	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	CDC20B_uc003jpn.2_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.2_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.2_Missense_Mutation_p.R307Q	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	307								p.R307Q(2)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTTCTCAGCCGCTTTTTAGT	0.438													T	54423154	C	T	54423154	3	4	183	1	0	0	0	0	1	0	0	0	3060	652	23	2	659	2	CDC20B	5	54423154	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		54423154	126492106	25	12709											
FAT2	2196	broad.mit.edu	37	5	150947475	150947475	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:150947475C>T	uc003lue.4	-	0	1031	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	FAT2_uc010jhx.1_Missense_Mutation_p.G340S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	340					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)			AAATAAGGGCCGCTCCCACTC	0.502													T	150947475	C	T	150947475	3	4	183	1	0	0	0	0	1	0	0	0	5690	652	23	2	12123	2	FAT2	5	150947475	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	96524321	150947475	29967785	26	12710											
LARP1	23367	broad.mit.edu	37	5	154193504	154193504	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:154193504G>A	uc003lvo.3	+	18	2932	c.2908G>A	c.(2908-2910)Ggc>Agc	p.G970S	LARP1_uc021ygh.1_Missense_Mutation_p.G842S	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	1047							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGAGGTGGCGGCGGTGAGGG	0.637													A	154193504	G	A	154193504	3	1	183	1	0	0	0	0	1	0	0	0	8628	1116	39	2	2982	2	LARP1	5	154193504	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	3246029	154193504	26721756	27	12711											
EYA4	2070	broad.mit.edu	37	6	133844286	133844286	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr6:133844286T>C	uc011ecs.2	+	17	2043	c.1727T>C	c.(1726-1728)aTt>aCt	p.I576T	EYA4_uc011ecq.2_Missense_Mutation_p.I516T|EYA4_uc011ecr.2_Missense_Mutation_p.I522T|EYA4_uc003qec.4_Missense_Mutation_p.I570T|EYA4_uc003qed.4_Missense_Mutation_p.I570T|EYA4_uc003qee.4_Missense_Mutation_p.I547T|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	570					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCTTTCCCCATTGAGAATATT	0.383													C	133844286	T	C	133844286	3	2	183	1	0	0	0	0	1	0	0	0	5331	1493	52	4	1775	4	EYA4	6	133844286	Missense_Mutation	SNP	T	TCGA-27-1831-01A-01D-1494-08		133844286	37270781	28	12712											
SDK1	221935	broad.mit.edu	37	7	4050700	4050700	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:4050700C>T	uc003smx.3	+	14	2373	c.2234C>T	c.(2233-2235)gCg>gTg	p.A745V	SDK1_uc010kso.3_Missense_Mutation_p.A21V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	745	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGGTGTGCGCGGTGAATGAA	0.622													T	4050700	C	T	4050700	3	4	183	1	0	0	0	0	1	0	0	0	13968	768	27	1	2292	1	SDK1	7	4050700	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		4050700	155087963	29	12713											
TMEM196	256130	broad.mit.edu	37	7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:19765216C>T	uc011jyg.2	-	2	465	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	133						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498													T	19765216	C	T	19765216	3	4	183	1	0	0	0	0	1	0	0	0	16115	884	31	2	146	2	TMEM196	7	19765216	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	15714516	19765216	139373447	30	12714											
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211080	G	A	55211080	3	1	183	1	0	0	0	0	1	0	0	0	4967	942	33	3	333	3	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	35445864	55211080	103927583	31	12715											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	183	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	10742	55221822	103916841	32	12716											
EGFR	1956	broad.mit.edu	37	7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55241677G>A	uc003tqk.3	+	17	2371	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_uc022adm.1_Missense_Mutation_p.E709K|EGFR_uc010kzg.2_Missense_Mutation_p.E664K|EGFR_uc022adn.1_Missense_Mutation_p.E664K|EGFR_uc011kco.2_Missense_Mutation_p.E656K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709K(39)|p.E709A(18)|p.E709G(10)|p.E709_T710>D(6)|p.E709V(5)|p.E709H(4)|p.E709Q(2)|p.E709fs*1(2)|p.K708E(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.K708M(1)|p.K708R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATCTTGAAGGAAACTGAATT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55241677	G	A	55241677	3	1	183	1	0	0	0	0	1	0	0	0	4967	1175	41	3	2459	3	EGFR	7	55241677	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	19855	55241677	103896986	33	12717			1	32		2	2	18	G		3.898914e-05
EGFR	1956	broad.mit.edu	37	7	55241694	55241694	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55241694G>C	uc003tqk.3	+	17	2388	c.2142G>C	c.(2140-2142)aaG>aaC	p.K714N	EGFR_uc022adm.1_Missense_Mutation_p.K714N|EGFR_uc010kzg.2_Missense_Mutation_p.K669N|EGFR_uc022adn.1_Missense_Mutation_p.K669N|EGFR_uc011kco.2_Missense_Mutation_p.K661N	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	714	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.K714N(2)|p.K713F(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AATTCAAAAAGATCAAAGTGC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55241694	G	C	55241694	3	2	183	1	0	0	0	0	1	0	0	0	4967	933	33	5	2476	5	EGFR	7	55241694	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	17	55241694	103896969	34	12718			1	32		2	2	18	G		3.898914e-05
ZNF3	7551	broad.mit.edu	37	7	99669056	99669056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:99669056G>A	uc003uss.3	-	2	1390	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Nonsense_Mutation_p.Q351*|ZNF3_uc010lgj.3_Nonsense_Mutation_p.Q315*|ZNF3_uc003usr.3_Nonsense_Mutation_p.Q351*|ZNF3_uc003ust.4_Nonsense_Mutation_p.Q351*			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	351				GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019).	cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGTGAGCTCTGGCTGAAGGCT	0.473													A	99669056	G	A	99669056	4	1	183	1	0	0	0	0	0	1	0	0	17826	1357	47	3	422	3	ZNF3	7	99669056	Nonsense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	44427362	99669056	59469607	35	12719											
SERPINE1	5054	broad.mit.edu	37	7	100779013	100779013	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:100779013G>A	uc003uxt.3	+	6	1166	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	SERPINE1_uc011kkj.2_Missense_Mutation_p.V325I|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	340					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.V340I(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCCTCTCCACGTCGCGCAGGC	0.582													A	100779013	G	A	100779013	3	1	183	1	0	0	0	0	1	0	0	0	14111	1145	40	1	1040	1	SERPINE1	7	100779013	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	1109957	100779013	58359650	36	12720											
RELN	5649	broad.mit.edu	37	7	103205920	103205920	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:103205920C>T	uc022ajr.1	-	33	5175	c.5015G>A	c.(5014-5016)tGt>tAt	p.C1672Y	RELN_uc022ajq.1_Missense_Mutation_p.C1672Y|RELN_uc010liz.3_Missense_Mutation_p.C1672Y	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1672					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			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)		GGGCTTGCTACAGCCCATGCT	0.448													T	103205920	C	T	103205920	3	4	183	1	0	0	0	0	1	0	0	0	13220	478	17	3	5495	3	RELN	7	103205920	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	2426907	103205920	55932743	37	12721											
NRCAM	4897	broad.mit.edu	37	7	107824688	107824688	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:107824688C>A	uc022aka.1	-	18	2407	c.2301G>T	c.(2299-2301)tgG>tgT	p.W767C	NRCAM_uc011kmk.2_Missense_Mutation_p.W767C|NRCAM_uc003vfd.3_Missense_Mutation_p.W748C|NRCAM_uc003vfe.3_Missense_Mutation_p.W748C|NRCAM_uc003vfc.3_Missense_Mutation_p.W751C	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	767	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCTCACCTTCCACGTAATCA	0.368													A	107824688	C	A	107824688	3	1	183	1	0	0	0	0	1	0	0	0	10644	856	30	5	1691	5	NRCAM	7	107824688	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	4618768	107824688	51313975	38	12722											
FAM71F1	84691	broad.mit.edu	37	7	128355633	128355633	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:128355633G>A	uc003vno.1	+	0	191	c.138G>A	c.(136-138)ccG>ccA	p.P46P	FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.P46P	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	46										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATGGAGAGCCGAACCCTGGAG	0.522													A	128355633	G	A	128355633	2	1	183	1	0	0	0	0	0	0	0	1	5612	1045	37	2		2	FAM71F1	7	128355633	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	20530945	128355633	30783030	39	12723											
UBE3C	9690	broad.mit.edu	37	7	157041143	157041143	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:157041143G>A	uc010lqs.3	+	18	2875	c.2563G>A	c.(2563-2565)Gac>Aac	p.D855N	UBE3C_uc003wni.4_Missense_Mutation_p.D218N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	855	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			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)		TGCCGACGTGGACATTCACCA	0.502													A	157041143	G	A	157041143	3	1	183	1	0	0	0	0	1	0	0	0	16878	1174	41	3	2637	3	UBE3C	7	157041143	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	28685510	157041143	2097520	40	12724											
UBR5	51366	broad.mit.edu	37	8	103289358	103289358	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr8:103289358C>T	uc003ykr.2	-	44	6806	c.6351G>A	c.(6349-6351)cgG>cgA	p.R2117R	UBR5_uc003yks.2_Silent_p.R2117R	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2117					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.R2117R(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTTTTTTTGCCGGTTTTGCA	0.378													T	103289358	C	T	103289358	2	4	183	1	0	0	0	0	0	0	0	1	16902	726	26	3		3	UBR5	8	103289358	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08		103289358	43074664	41	12725											
COL14A1	7373	broad.mit.edu	37	8	121267573	121267573	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr8:121267573G>T	uc003yox.3	+	22	3112	c.2847G>T	c.(2845-2847)agG>agT	p.R949S	COL14A1_uc003yoy.3_Missense_Mutation_p.R627S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	949	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			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)			CAGCCTATAGGGTTGTTATAG	0.453													T	121267573	G	T	121267573	3	4	183	1	0	0	0	0	1	0	0	0	3671	1223	43	5	2933	5	COL14A1	8	121267573	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	17978215	121267573	25096449	42	12726											
IFNE	338376	broad.mit.edu	37	9	21481272	21481272	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr9:21481272C>T	uc003zpg.3	-	0	1041	c.422G>A	c.(421-423)aGa>aAa	p.R141K	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	141					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						AACTTGTAATCTAAGGTTATC	0.433													T	21481272	C	T	21481272	3	4	183	1	0	0	0	0	1	0	0	0	7547	913	32	3	208	3	IFNE	9	21481272	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		21481272	119732159	43	12727											
OIT3	170392	broad.mit.edu	37	10	74666378	74666378	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr10:74666378A>G	uc001jte.1	+	3	787	c.569A>G	c.(568-570)aAc>aGc	p.N190S	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	190	EGF-like; calcium-binding (Potential).					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAGCAAAACAACGGTGGCTGC	0.488													G	74666378	A	G	74666378	3	3	183	1	0	0	0	0	1	0	0	0	10849	43	2	4	583	4	OIT3	10	74666378	Missense_Mutation	SNP	A	TCGA-27-1831-01A-01D-1494-08		74666378	60868369	44	12728											
EBF3	253738	broad.mit.edu	37	10	131640486	131640486	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr10:131640486G>C	uc021qav.1	-	12	1298	c.1197C>G	c.(1195-1197)atC>atG	p.I399M	EBF3_uc001lki.2_Missense_Mutation_p.I413M	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	422					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCAGGGTGGGGATCTGGTTGT	0.617													C	131640486	G	C	131640486	3	2	183	1	0	0	0	0	1	0	0	0	4882	1164	41	5	432	5	EBF3	10	131640486	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	56974108	131640486	3894261	45	12729											
OR52J3	119679	broad.mit.edu	37	11	5068212	5068212	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:5068212C>T	uc010qyv.2	+	0	457	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATTGTAATTCGTCCCGTTTT	0.468													T	5068212	C	T	5068212	3	4	183	1	0	0	0	0	1	0	0	0	11122	884	31	2	459	2	OR52J3	11	5068212	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		5068212	129938304	46	12730											
SLC5A12	159963	broad.mit.edu	37	11	26718717	26718717	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:26718717G>A	uc001mra.2	-	7	1347	c.1034C>T	c.(1033-1035)aCt>aTt	p.T345I	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.T345I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	345					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TAACCTCAGAGTTCCACTGAA	0.438													A	26718717	G	A	26718717	3	1	183	1	0	0	0	0	1	0	0	0	14664	1029	36	3	854	3	SLC5A12	11	26718717	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	21650505	26718717	108287799	47	12731											
PYGM	5837	broad.mit.edu	37	11	64521011	64521011	+	Silent	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:64521011G>A	uc001oax.4	-	10	2200	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	PYGM_uc001oay.4_Silent_p.S373S	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	461					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGAGGATCTCGGAGTGGATGC	0.652													A	64521011	G	A	64521011	2	1	183	1	0	0	0	0	0	0	0	1	12862	1103	39	2		2	PYGM	11	64521011	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	37802294	64521011	70485505	48	12732											
GPR83	10888	broad.mit.edu	37	11	94113625	94113625	+	Missense_Mutation	SNP	C	C	T	rs145628763	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:94113625C>T	uc001pet.2	-	3	1134	c.962G>A	c.(961-963)cGc>cAc	p.R321H		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	321						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTGTTGGTGCGGATGACCTT	0.517													T	94113625	C	T	94113625	3	4	183	1	0	0	0	0	1	0	0	0	6713	768	27	1	313	1	GPR83	11	94113625	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	29592614	94113625	40892891	49	12733											
KIAA1377	57562	broad.mit.edu	37	11	101793446	101793446	+	Missense_Mutation	SNP	G	G	A	rs142032267		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:101793446G>A	uc001pgm.3	+	1	473	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	KIAA1377_uc001pgn.3_Missense_Mutation_p.R24Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	68							protein binding	p.R68L(2)|p.R68*(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAATATGTCGAAATCGAGCA	0.303													A	101793446	G	A	101793446	3	1	183	1	0	0	0	0	1	0	0	0	8227	1058	37	2	209	2	KIAA1377	11	101793446	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	7679821	101793446	33213070	50	12734											
GRIN2B	2904	broad.mit.edu	37	12	13716353	13716353	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:13716353C>T	uc001rbt.2	-	12	3998	c.3819G>A	c.(3817-3819)acG>acA	p.T1273T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1273					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGCGTTTGACGTCACCGCCA	0.582													T	13716353	C	T	13716353	2	4	183	1	0	0	0	0	0	0	0	1	6780	523	19	1		1	GRIN2B	12	13716353	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08		13716353	120135542	51	12735											
EPYC	1833	broad.mit.edu	37	12	91363838	91363838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:91363838G>A	uc001tbk.3	-	5	874	c.781C>T	c.(781-783)Cga>Tga	p.R261*		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	261					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R261G(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGAAGGGCTCGTAGATTTTCT	0.478													A	91363838	G	A	91363838	4	1	183	1	0	0	0	0	0	1	0	0	5201	1153	40	1	195	1	EPYC	12	91363838	Nonsense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	77647485	91363838	42488057	52	12736											
NR1H4	9971	broad.mit.edu	37	12	100897255	100897255	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:100897255G>T	uc001tht.2	+	0	118	c.90G>T	c.(88-90)atG>atT	p.M30I	NR1H4_uc001thq.2_Intron|NR1H4_uc001thp.2_Intron|NR1H4_uc001thr.2_Intron|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Intron|NR1H4_uc001ths.2_Missense_Mutation_p.M30I	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	30					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TGGAAATGATGAGTATGAAGC	0.453													T	100897255	G	T	100897255	3	4	183	1	0	0	0	0	1	0	0	0	10619	1305	45	5		5	NR1H4	12	100897255	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	9533417	100897255	32954640	53	12737											
DAO	1610	broad.mit.edu	37	12	109293186	109293186	+	Missense_Mutation	SNP	C	C	T	rs140015394		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:109293186C>T	uc001tnr.4	+	9	1518	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	DAO_uc001tnq.4_Missense_Mutation_p.R217W|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	283					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AACTGGCTTCCGGCCAGTACG	0.458													T	109293186	C	T	109293186	3	4	183	1	0	0	0	0	1	0	0	0	4231	643	23	2	881	2	DAO	12	109293186	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	8395931	109293186	24558709	54	12738											
RPGRIP1	57096	broad.mit.edu	37	14	21793505	21793505	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr14:21793505C>A	uc001wag.3	+	14	2330	c.2330C>A	c.(2329-2331)aCc>aAc	p.T777N	RPGRIP1_uc001wah.3_Missense_Mutation_p.T419N|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.T252N|RPGRIP1_uc010aim.3_Missense_Mutation_p.T160N|RPGRIP1_uc001wal.3_Missense_Mutation_p.T136N|RPGRIP1_uc001wam.3_Missense_Mutation_p.T94N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	777					response to stimulus|visual perception	cilium		p.S777P(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)		TACCTGTCAACCGATGTGCTT	0.542													A	21793505	C	A	21793505	3	1	183	1	0	0	0	0	1	0	0	0	13549	507	18	5	2388	5	RPGRIP1	14	21793505	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		21793505	85556035	55	12739											
LOXL1	4016	broad.mit.edu	37	15	74238821	74238821	+	Silent	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr15:74238821C>T	uc002awc.1	+	2	1611	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	425	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCCCCAGCGCGTGAAGAACC	0.692													T	74238821	C	T	74238821	2	4	183	1	0	0	0	0	0	0	0	1	8899	755	27	1		1	LOXL1	15	74238821	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08		74238821	28292571	56	12740											
USP6	9098	broad.mit.edu	37	17	5050405	5050405	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:5050405C>T	uc002gau.1	+	28	4577	c.2347C>T	c.(2347-2349)Caa>Taa	p.Q783*	USP6_uc002gav.1_Nonsense_Mutation_p.Q783*|USP6_uc010ckz.1_Nonsense_Mutation_p.Q466*	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	783					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAAAAAGTACAACTCTCAGT	0.383			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								T	5050405	C	T	5050405	4	4	183	1	0	0	0	0	0	1	0	0	17083	479	17	3	2425	3	USP6	17	5050405	Nonsense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		5050405	76144805	57	12741											
MYO1D	4642	broad.mit.edu	37	17	31105570	31105570	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:31105570G>A	uc002hho.1	-	2	338	c.326C>T	c.(325-327)aCg>aTg	p.T109M	MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.2_Missense_Mutation_p.T109M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	109	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTGGCTTCCGTTTTACCAGC	0.393													A	31105570	G	A	31105570	3	1	183	1	0	0	0	0	1	0	0	0	10071	1145	40	1	2774	1	MYO1D	17	31105570	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	26055165	31105570	50089640	58	12742											
MYO19	80179	broad.mit.edu	37	17	34856982	34856982	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:34856982G>A	uc010wcy.2	-	22	3166	c.2174C>T	c.(2173-2175)aCt>aTt	p.T725I	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.T525I	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	725						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CGAGTCACCAGTTATGGCTGC	0.577													A	34856982	G	A	34856982	3	1	183	1	0	0	0	0	1	0	0	0	10067	1029	36	3	758	3	MYO19	17	34856982	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	3751412	34856982	46338228	59	12743											
TANC2	26115	broad.mit.edu	37	17	61428697	61428697	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:61428697A>G	uc002jal.4	+	10	1695	c.1672A>G	c.(1672-1674)Att>Gtt	p.I558V	TANC2_uc010wpe.2_Missense_Mutation_p.I468V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	558							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGGGGATACAATTGTATCGTT	0.338													G	61428697	A	G	61428697	3	3	183	1	0	0	0	0	1	0	0	0	15542	101	4	4	1714	4	TANC2	17	61428697	Missense_Mutation	SNP	A	TCGA-27-1831-01A-01D-1494-08	26571715	61428697	19766513	60	12744											
PTPRM	5797	broad.mit.edu	37	18	7888125	7888125	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr18:7888125C>A	uc002knn.4	+	2	721	c.218C>A	c.(217-219)gCc>gAc	p.A73D	PTPRM_uc010dkv.3_Missense_Mutation_p.A73D	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	73	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGGTGAATGCCTCTGGGAGA	0.453													A	7888125	C	A	7888125	3	1	183	1	0	0	0	0	1	0	0	0	12806	739	26	5	228	5	PTPRM	18	7888125	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		7888125	70189123	61	12745											
MUC16	94025	broad.mit.edu	37	19	9087832	9087832	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:9087832G>A	uc002mkp.3	-	0	4187	c.3983C>T	c.(3982-3984)aCg>aTg	p.T1328M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1328	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						CTTAGGATCCGTAGTGGTGAT	0.527													A	9087832	G	A	9087832	3	1	183	1	0	0	0	0	1	0	0	0	9973	1145	40	1	39876	1	MUC16	19	9087832	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		9087832	50041151	62	12746											
RAB3D	9545	broad.mit.edu	37	19	11448018	11448018	+	Missense_Mutation	SNP	C	C	T	rs144965675	by1000genomes	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:11448018C>T	uc002mqx.3	-	1	319	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	20					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AACATATAGTCGAAGTTCTGA	0.557													T	11448018	C	T	11448018	3	4	183	1	0	0	0	0	1	0	0	0	12934	884	31	2	617	2	RAB3D	19	11448018	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	2360186	11448018	47680965	63	12747											
OR10H2	26538	broad.mit.edu	37	19	15839588	15839589	+	Frame_Shift_Ins	INS	-	-	CTTATTGTGG			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:15839588_15839589insCTTATTGTGG	uc002nbm.2	+	0	755_756	c.735_736insCTTATTGTGG	c.(733-738)caccttfs	p.H245fs		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTGCCTCTCACCTTATTGTGGT	0.54													CTTATTGTGG	15839589	-	CTTATTGTGG	15839588	7	5	183	1	0	1	1	0	0	0	0	0	10906	506	18	0	737	0	OR10H2	19	15839588	Frame_Shift_Ins	INS	-	TCGA-27-1831-01A-01D-1494-08	4391570	15839588	43289395	64	12748											
ZNF91	7644	broad.mit.edu	37	19	23543307	23543307	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:23543307G>C	uc002nre.3	-	3	2587	c.2474C>G	c.(2473-2475)cCc>cGc	p.P825R	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P793R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	825						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTTGTAGGGTTTCTCTCC	0.403													C	23543307	G	C	23543307	3	2	183	1	0	0	0	0	1	0	0	0	18197	1232	43	5	1105	5	ZNF91	19	23543307	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	7703719	23543307	35585676	65	12749											
C5AR1	728	broad.mit.edu	37	19	47823716	47823716	+	Missense_Mutation	SNP	C	C	T	rs146163744		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:47823716C>T	uc002pgj.1	+	1	731	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	228					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.R228R(2)|p.R228W(2)		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)		CATCCTGCTCCGGACGTGGAG	0.612													T	47823716	C	T	47823716	3	4	183	1	0	0	0	0	1	0	0	0	2281	643	23	2	687	2	C5AR1	19	47823716	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	24280409	47823716	11305267	66	12750											
SSTR4	6754	broad.mit.edu	37	20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr20:23016973G>A	uc002wsr.2	+	0	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	285					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.V285M(2)		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)					GAACCTCTTCGTGACCAGCCT	0.552													A	23016973	G	A	23016973	3	1	183	1	0	0	0	0	1	0	0	0	15199	1145	40	1	855	1	SSTR4	20	23016973	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		23016973	40008547	67	12751											
CLDN14	23562	broad.mit.edu	37	21	37833888	37833888	+	Missense_Mutation	SNP	C	C	T	rs142205038		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr21:37833888C>T	uc021wja.1	-	0	106	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	CLDN14_uc002yvn.1_Missense_Mutation_p.V36M|CLDN14_uc002yvo.1_Missense_Mutation_p.V36M|CLDN14_uc002yvk.1_Missense_Mutation_p.V36M|CLDN14_uc002yvl.1_Missense_Mutation_p.V36M|CLDN14_uc002yvm.1_Missense_Mutation_p.V36M	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	36					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TTGGTGCCCACGTGCGCTGTC	0.622													T	37833888	C	T	37833888	3	4	183	1	0	0	0	0	1	0	0	0	3475	536	19	1	617	1	CLDN14	21	37833888	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		37833888	10296007	68	12752											
IL3RA	3563	broad.mit.edu	37	X	1484071	1484071	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:1484071C>T	uc004cps.3	+	8	1149	c.800C>T	c.(799-801)aCg>aTg	p.T267M	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.T189M	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	267						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	AATCCTGGAACGTACACAGTA	0.542													T	1484071	C	T	1484071	3	4	183	1	0	0	0	0	1	0	0	0	7695	536	19	1	830	1	IL3RA	23	1484071	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		1484071	153786489	69	12753											
STS	412	broad.mit.edu	37	X	7177573	7177573	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:7177573G>A	uc004cry.4	+	4	826	c.581G>A	c.(580-582)gGg>gAg	p.G194E		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	194					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CAGATCGTCGGGGTCACCCTC	0.567									Ichthyosis				A	7177573	G	A	7177573	3	1	183	1	0	0	0	0	1	0	0	0	15331	1232	43	3	599	3	STS	23	7177573	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	5693502	7177573	148092987	70	12754											
SATL1	340562	broad.mit.edu	37	X	84349151	84349151	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:84349151delA	uc004een.3	-	3	1859	c.1859delT	c.(1858-1860)gtcfs	p.V620fs		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	433							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						AGCTTGTGTGACATAAAAGTC	0.338													-	84349151	A	-	84349151	7	5	183	1	0	1	0	1	0	0	0	0	13855	275	10	0	47	0	SATL1	23	84349151	Frame_Shift_Del	DEL	A	TCGA-27-1831-01A-01D-1494-08	77171578	84349151	70921409	71	12755											
RPE65	6121	broad.mit.edu	37	1	68904666	68904666	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr1:68904666T>A	uc001dei.1	-	8	1011	c.957A>T	c.(955-957)gaA>gaT	p.E319D		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	319					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ACCCATTGTCTTCATAGGTGT	0.413													A	68904666	T	A	68904666	3	1	184	1	0	0	0	0	1	0	0	0	13545	1606	56	5	668	5	RPE65	1	68904666	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08		68904666	180345955	1	12756											
SLC39A1	27173	broad.mit.edu	37	1	153933124	153933124	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr1:153933124A>G	uc001fdl.3	-	4	891	c.425T>C	c.(424-426)cTg>cCg	p.L142P	CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.L142P|SLC39A1_uc001fdj.3_Missense_Mutation_p.L142P|SLC39A1_uc001fdk.3_Missense_Mutation_p.L142P|SLC39A1_uc010pee.2_Missense_Mutation_p.L40P	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	142						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	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)	Colorectal(1306;0.019)		TGTTTCCTCCAGAGGTGACGG	0.607													G	153933124	A	G	153933124	3	3	184	1	0	0	0	0	1	0	0	0	14612	188	7	4	553	4	SLC39A1	1	153933124	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	85028458	153933124	95317497	2	12757											
NRXN1	9378	broad.mit.edu	37	2	50847197	50847197	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:50847197G>A	uc021vhh.1	-	6	2204	c.1283C>T	c.(1282-1284)tCa>tTa	p.S428L	NRXN1_uc002rxb.4_Missense_Mutation_p.S100L|NRXN1_uc021vhg.1_Missense_Mutation_p.S468L|NRXN1_uc021vhi.1_Missense_Mutation_p.S464L|NRXN1_uc021vhj.1_Missense_Mutation_p.S424L|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	428	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGACTGGTGACCCTGGAAG	0.463													A	50847197	G	A	50847197	3	1	184	1	0	0	0	0	1	0	0	0	10665	1294	45	3	3567	3	NRXN1	2	50847197	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		50847197	192352176	3	12758											
EIF2AK3	9451	broad.mit.edu	37	2	88870441	88870441	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:88870441G>A	uc002stc.4	-	13	3238	c.2936C>T	c.(2935-2937)gCc>gTc	p.A979V		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	979	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGTGTGTCTGGCATAAGCTGG	0.488													A	88870441	G	A	88870441	3	1	184	1	0	0	0	0	1	0	0	0	4998	1203	42	3	430	3	EIF2AK3	2	88870441	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	38023244	88870441	154328932	4	12759											
COL5A2	1290	broad.mit.edu	37	2	189918184	189918184	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:189918184C>T	uc002uqk.3	-	37	2794	c.2519G>A	c.(2518-2520)gGg>gAg	p.G840E	COL5A2_uc010frx.3_Missense_Mutation_p.G416E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	840					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			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)			TCCAGTTGGCCCATTTTCACC	0.343													T	189918184	C	T	189918184	3	4	184	1	0	0	0	0	1	0	0	0	3697	623	22	3	2048	3	COL5A2	2	189918184	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	101047743	189918184	53281189	5	12760											
GLS	2744	broad.mit.edu	37	2	191769831	191769831	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:191769831A>T	uc002usf.2	+	5	1181	c.917A>T	c.(916-918)cAt>cTt	p.H306L	GLS_uc002use.2_Missense_Mutation_p.H306L	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	306					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	p.V305A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAATATGTGCATCGATATGTT	0.348													T	191769831	A	T	191769831	3	4	184	1	0	0	0	0	1	0	0	0	6463	217	8	5	939	5	GLS	2	191769831	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	1851647	191769831	51429542	6	12761											
CPS1	1373	broad.mit.edu	37	2	211441119	211441119	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:211441119A>G	uc010fur.3	+	3	386	c.304A>G	c.(304-306)Atg>Gtg	p.M102V	CPS1_uc002vee.4_Missense_Mutation_p.M96V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	96	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			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)		GATTCTCACAATGGCCAACCC	0.408													G	211441119	A	G	211441119	3	3	184	1	0	0	0	0	1	0	0	0	3823	101	4	4	318	4	CPS1	2	211441119	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	19671288	211441119	31758254	7	12762											
KIF9	64147	broad.mit.edu	37	3	47307239	47307239	+	Silent	SNP	G	G	A	rs146278510		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr3:47307239G>A	uc010hjp.3	-	8	1501	c.897C>T	c.(895-897)caC>caT	p.H299H	KIF9_uc003cqx.3_Silent_p.H299H|KIF9_uc003cqy.3_Silent_p.H299H|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	299					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCTTCAGAGCGTGGGTGAGCT	0.582													A	47307239	G	A	47307239	2	1	184	1	0	0	0	0	0	0	0	1	8310	1136	40	1		1	KIF9	3	47307239	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08		47307239	150715191	8	12763											
CEP135	9662	broad.mit.edu	37	4	56875926	56875926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr4:56875926C>T	uc003hbi.3	+	18	2596	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	CEP135_uc003hbj.3_Nonsense_Mutation_p.R494*	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	788					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			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)					ATTGGTTAATCGAGATCGTGA	0.363													T	56875926	C	T	56875926	4	4	184	1	0	0	0	0	0	1	0	0	3247	876	31	2	2432	2	CEP135	4	56875926	Nonsense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		56875926	134278350	9	12764											
WDFY3	23001	broad.mit.edu	37	4	85657415	85657415	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr4:85657415G>A	uc003hpd.3	-	41	7231	c.6823C>T	c.(6823-6825)Cgt>Tgt	p.R2275C	WDFY3_uc003hpe.1_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2275						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGCTGACACGGGATAATTTG	0.373													A	85657415	G	A	85657415	3	1	184	1	0	0	0	0	1	0	0	0	17267	1116	39	2	3865	2	WDFY3	4	85657415	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	28781489	85657415	105496861	10	12765											
GFM2	84340	broad.mit.edu	37	5	74056813	74056813	+	Splice_Site	SNP	T	T	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr5:74056813T>C	uc010izj.1	-	4	486	c.160_splice	c.e4-1	p.N54_splice	GFM2_uc003kdh.1_Splice_Site_p.N22_splice|GFM2_uc003kdi.1_Splice_Site_p.N22_splice|GFM2_uc010izk.1_Splice_Site|GFM2_uc003kdj.1_Splice_Site_p.N22_splice|GFM2_uc010izl.1_Splice_Site_p.N22_splice	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	22					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCATATATTCTAGTAAAGAGA	0.294													C	74056813	T	C	74056813	5	2	184	1	0	0	0	0	0	0	1	0	6342	1536	53	4	2385	4	GFM2	5	74056813	Splice_Site	SNP	T	TCGA-27-1832-01A-01W-0643-08		74056813	106858447	11	12766											
PCDHAC2	56147	broad.mit.edu	37	5	140167207	140167207	+	Silent	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr5:140167207G>A	uc003lhb.2	+	0	1332	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	PCDHAC2_uc003lha.2_Silent_p.E444E|PCDHAC2_uc003lgz.3_Silent_p.E444E	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	458	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGTGGAGGTGGCCGACG	0.667													A	140167207	G	A	140167207	2	1	184	1	0	0	0	0	0	0	0	1	11533	991	35	3		3	PCDHAC2	5	140167207	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08	66110394	140167207	40748053	12	12767											
RP9	6100	broad.mit.edu	37	7	33138995	33138995	+	Silent	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:33138995G>A	uc003tdm.3	-	2	255	c.237C>T	c.(235-237)caC>caT	p.H79H		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	Homo sapiens retinitis pigmentosa 9 (autosomal dominant) (RP9), mRNA.	79	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATTCCCTGGCGTGTTCATTGC	0.463													A	33138995	G	A	33138995	2	1	184	1	0	0	0	0	0	0	0	1	13535	1136	40	1		1	RP9	7	33138995	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08		33138995	125999668	13	12768											
CCDC146	57639	broad.mit.edu	37	7	76796979	76796979	+	Translation_Start_Site	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:76796979G>A	uc003uga.3	+	1					CCDC146_uc003ufz.1_5'UTR	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TTTTAGAATCGTGAAAAATGG	0.308													A	76796979	G	A	76796979	1	1	184	1	0	0	0	0	0	0	0	0	2780	1160	40	1		1	CCDC146	7	76796979	Translation_Start_Site	SNP	G	TCGA-27-1832-01A-01W-0643-08	43657984	76796979	82341684	14	12769											
CROT	54677	broad.mit.edu	37	7	86998729	86998729	+	Silent	SNP	G	G	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:86998729G>T	uc003uiu.3	+	7	914	c.669G>T	c.(667-669)ctG>ctT	p.L223L	CROT_uc003uit.3_Silent_p.L195L	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	195					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTGTAGTGCTGTGTCGAGGCC	0.428													T	86998729	G	T	86998729	2	4	184	1	0	0	0	0	0	0	0	1	3894	1364	48	5		5	CROT	7	86998729	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08	10201750	86998729	72139934	15	12770											
ATP6V0A4	50617	broad.mit.edu	37	7	138440516	138440516	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:138440516G>T	uc003vuf.3	-	8	972	c.734C>A	c.(733-735)aCt>aAt	p.T245N	ATP6V0A4_uc003vug.3_Missense_Mutation_p.T245N|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.T245N	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	245					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGGTAGACAGTGGCTCGAAA	0.498													T	138440516	G	T	138440516	3	4	184	1	0	0	0	0	1	0	0	0	1170	1029	36	5	1840	5	ATP6V0A4	7	138440516	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	51441787	138440516	20698147	16	12771											
C9orf131	138724	broad.mit.edu	37	9	35045866	35045866	+	Nonstop_Mutation	SNP	G	G	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:35045866G>C	uc003zvw.3	+	1	3269	c.3240G>C	c.(3238-3240)taG>taC	p.*1080Y	C9orf131_uc003zvu.3_Nonstop_Mutation_p.*1032Y|C9orf131_uc003zvv.3_Nonstop_Mutation_p.*1007Y|C9orf131_uc003zvx.3_Nonstop_Mutation_p.*1045Y	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	0										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTAGTCAGTAGAGAAAAGGCT	0.483													C	35045866	G	C	35045866	4	2	184	1	0	0	0	0	0	0	0	0	2457	937	33	5	3262	5	C9orf131	9	35045866	Nonstop_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		35045866	106167565	17	12772											
CNTNAP3	79937	broad.mit.edu	37	9	39099958	39099959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:39099958_39099959insC	uc004abi.3	-	17	3183_3184	c.2944_2945insG	c.(2944-2946)gtcfs	p.V982fs	CNTNAP3_uc004abj.3_Intron|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Frame_Shift_Ins_p.V982fs	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	982	EGF-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCACAGGTGACCCCCCTGCGT	0.535													C	39099959	-	C	39099958	7	5	184	1	0	1	1	0	0	0	0	0	3648	275	10	0	949	0	CNTNAP3	9	39099958	Frame_Shift_Ins	INS	-	TCGA-27-1832-01A-01W-0643-08	4054092	39099958	102113473	18	12773											
GPR107	57720	broad.mit.edu	37	9	132848732	132848732	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:132848732A>G	uc004bze.2	+	6	825	c.598A>G	c.(598-600)Aat>Gat	p.N200D	GPR107_uc004bzb.2_Missense_Mutation_p.N11D|GPR107_uc011mbx.1_Missense_Mutation_p.N200D|GPR107_uc004bzd.2_Missense_Mutation_p.N200D	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	200						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGTTCATAATAATGGTGGGGC	0.348													G	132848732	A	G	132848732	3	3	184	1	0	0	0	0	1	0	0	0	6623	362	13	4	624	4	GPR107	9	132848732	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	93748774	132848732	8364699	19	12774											
MS4A6A	64231	broad.mit.edu	37	11	59947358	59947358	+	Silent	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:59947358G>A	uc010rla.2	-	3	785	c.312C>T	c.(310-312)acC>acT	p.T104T	MS4A6A_uc001noq.3_Silent_p.T76T|MS4A6A_uc009ymv.3_Silent_p.T76T|MS4A6A_uc001not.3_Silent_p.T76T|MS4A6A_uc010rlb.2_Intron	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	76						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGTCACTTGGGTAAAATTTG	0.468													A	59947358	G	A	59947358	2	1	184	1	0	0	0	0	0	0	0	1	9864	1219	43	3		3	MS4A6A	11	59947358	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08		59947358	75059158	20	12775											
USP28	57646	broad.mit.edu	37	11	113688486	113688486	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:113688486T>C	uc001poh.3	-	12	1390	c.1357A>G	c.(1357-1359)Agt>Ggt	p.S453G	USP28_uc001pog.3_Missense_Mutation_p.S161G|USP28_uc010rwy.2_Missense_Mutation_p.S328G|USP28_uc001poi.3_Intron|USP28_uc001poj.3_Missense_Mutation_p.S453G	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	453					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGTTTTGTACTAGCAAATTCA	0.463													C	113688486	T	C	113688486	3	2	184	1	0	0	0	0	1	0	0	0	17055	1522	53	4	1928	4	USP28	11	113688486	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08	53741128	113688486	21318030	21	12776											
CD163L1	283316	broad.mit.edu	37	12	7559406	7559406	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:7559406C>T	uc010sge.2	-	4	865	c.839G>A	c.(838-840)cGc>cAc	p.R280H	CD163L1_uc001qsy.3_Missense_Mutation_p.R270H	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	270	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATACAGCGGTTAGTTCC	0.448													T	7559406	C	T	7559406	3	4	184	1	0	0	0	0	1	0	0	0	2968	768	27	1	3612	1	CD163L1	12	7559406	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		7559406	126292489	22	12777											
TRPV4	59341	broad.mit.edu	37	12	110236625	110236625	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:110236625G>A	uc001tpj.2	-	4	1041	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	TRPV4_uc001tpg.2_Missense_Mutation_p.R282C|TRPV4_uc021rdp.1_Missense_Mutation_p.R316C|TRPV4_uc001tph.2_Missense_Mutation_p.R269C|TRPV4_uc001tpi.2_Missense_Mutation_p.R269C|TRPV4_uc001tpk.2_Missense_Mutation_p.R316C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	316			R -> C (in CMT2C and SPSMA).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAGTCCTGGCGCCGCATGTCC	0.612													A	110236625	G	A	110236625	3	1	184	1	0	0	0	0	1	0	0	0	16595	1087	38	1	1713	1	TRPV4	12	110236625	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	102677219	110236625	23615270	23	12778											
AACS	65985	broad.mit.edu	37	12	125599073	125599073	+	Silent	SNP	C	C	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:125599073C>A	uc001uhc.3	+	8	1172	c.966C>A	c.(964-966)acC>acA	p.T322T	AACS_uc001uhd.3_Silent_p.T322T|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	322					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCAACATGACCAGCAGTGACA	0.607													A	125599073	C	A	125599073	2	1	184	1	0	0	0	0	0	0	0	1	9	581	21	5		5	AACS	12	125599073	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08	15362448	125599073	8252822	24	12779											
IPO5	3843	broad.mit.edu	37	13	98666352	98666352	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr13:98666352C>T	uc001vne.3	+	21	2443	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	737					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGCAAGAGTCCGTGGTCCTGA	0.438													T	98666352	C	T	98666352	3	4	184	1	0	0	0	0	1	0	0	0	7796	652	23	2	2341	2	IPO5	13	98666352	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		98666352	16503526	25	12780											
F10	2159	broad.mit.edu	37	13	113793675	113793675	+	Silent	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr13:113793675C>T	uc001vsx.3	+	3	318	c.261C>T	c.(259-261)ggC>ggT	p.G87G	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Silent_p.G87G	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	87	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCAGATGGCGACCAGTGTG	0.502													T	113793675	C	T	113793675	2	4	184	1	0	0	0	0	0	0	0	1	5336	755	27	1		1	F10	13	113793675	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08	15127323	113793675	1376203	26	12781											
SLC7A7	9056	broad.mit.edu	37	14	23245049	23245049	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr14:23245049C>T	uc001wgr.4	-	5	1129	c.991G>A	c.(991-993)Gct>Act	p.A331T	SLC7A7_uc001wgs.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgt.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgu.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgv.4_Missense_Mutation_p.A331T	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	331					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TACCTAGAAGCAGCCACAATG	0.428													T	23245049	C	T	23245049	3	4	184	1	0	0	0	0	1	0	0	0	14703	710	25	3	564	3	SLC7A7	14	23245049	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		23245049	84104491	27	12782											
NFKBIA	4792	broad.mit.edu	37	14	35871759	35871759	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr14:35871759C>A	uc001wtf.4	-	4	857	c.747G>T	c.(745-747)caG>caT	p.Q249H		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	249					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GAGAATAGCCCTGGTAGGTAA	0.577													A	35871759	C	A	35871759	3	1	184	1	0	0	0	0	1	0	0	0	10377	680	24	5	214	5	NFKBIA	14	35871759	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	12626710	35871759	71477781	28	12783											
TPSD1	23430	broad.mit.edu	37	16	1306641	1306641	+	Silent	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:1306641C>T	uc002clb.1	+	1	216	c.207C>T	c.(205-207)tcC>tcT	p.S69S	TPSD1_uc010brm.1_Silent_p.S7S	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCGGGGGCTCCCTCATCCACC	0.692													T	1306641	C	T	1306641	2	4	184	1	0	0	0	0	0	0	0	1	16422	610	22	3		3	TPSD1	16	1306641	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08		1306641	89048112	29	12784											
DNAH3	55567	broad.mit.edu	37	16	20975342	20975342	+	Silent	SNP	G	G	A	rs142743875	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:20975342G>A	uc010vbe.2	-	52	9864	c.9864C>T	c.(9862-9864)gaC>gaT	p.D3288D	DNAH3_uc010vbd.2_Silent_p.D723D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3288					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCGAGTCTCGTCAATCTGCG	0.498													A	20975342	G	A	20975342	2	1	184	1	0	0	0	0	0	0	0	1	4603	1136	40	1		1	DNAH3	16	20975342	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08	19668701	20975342	69379411	30	12785											
KIAA0556	23247	broad.mit.edu	37	16	27761189	27761189	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:27761189G>A	uc002dow.3	+	15	2932	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	970										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TAAAATCCCCGTCTTGCCTTA	0.557													A	27761189	G	A	27761189	3	1	184	1	0	0	0	0	1	0	0	0	8183	1145	40	1	2970	1	KIAA0556	16	27761189	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	6785847	27761189	62593564	31	12786											
TRIM72	493829	broad.mit.edu	37	16	31235634	31235634	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:31235634C>T	uc002ebn.2	+	6	1276	c.992C>T	c.(991-993)gCg>gTg	p.A331V	TRIM72_uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	331	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TTCGACAAGGCGGTGGCGGTG	0.731													T	31235634	C	T	31235634	3	4	184	1	0	0	0	0	1	0	0	0	16542	768	27	1	1014	1	TRIM72	16	31235634	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	3474445	31235634	59119119	32	12787											
SMCR8	140775	broad.mit.edu	37	17	18219935	18219935	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:18219935G>A	uc002gsy.4	+	0	1342	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	278										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCAGGATCAGGCCAGCCAGGC	0.517													A	18219935	G	A	18219935	3	1	184	1	0	0	0	0	1	0	0	0	14792	1203	42	3	834	3	SMCR8	17	18219935	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		18219935	62975275	33	12788											
ENPP7	339221	broad.mit.edu	37	17	77710991	77710991	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:77710991G>A	uc002jxa.3	+	3	1198	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	393					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.R393R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCATGTGCCGGCTGCTGGGC	0.647													A	77710991	G	A	77710991	3	1	184	1	0	0	0	0	1	0	0	0	5135	1116	39	2	1192	2	ENPP7	17	77710991	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	59491056	77710991	3484219	34	12789											
SLC38A10	124565	broad.mit.edu	37	17	79226299	79226302	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:79226299_79226302delTCTT	uc002jzz.1	-	12	2013_2016	c.1638_1641delAAGA	c.(1636-1641)gaaagafs	p.E546fs	SLC38A10_uc002jzy.1_Frame_Shift_Del_p.E464fs|SLC38A10_uc002kab.3_Frame_Shift_Del_p.E546fs	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	546					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTGTTTCTCTCTTTCTGAGTCGG	0.618													-	79226302	TCTT	-	79226299	7	5	184	1	0	1	0	1	0	0	0	0	14602	1548	54	0	2012	0	SLC38A10	17	79226299	Frame_Shift_Del	DEL	TCTT	TCGA-27-1832-01A-01W-0643-08	1515308	79226299	1968911	35	12790											
DUS1L	64118	broad.mit.edu	37	17	80020801	80020801	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:80020801C>T	uc002kdq.3	-	3	865	c.446G>A	c.(445-447)cGt>cAt	p.R149H	DUS1L_uc002kdp.3_Missense_Mutation_p.R18H|DUS1L_uc002kdr.3_Missense_Mutation_p.R149H|DUS1L_uc010wvi.1_Missense_Mutation_p.R132H	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.	149					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGGAAGACACGGATTTTGCA	0.602													T	80020801	C	T	80020801	3	4	184	1	0	0	0	0	1	0	0	0	4805	536	19	1	1015	1	DUS1L	17	80020801	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	794502	80020801	1174409	36	12791											
ANKRD30B	374860	broad.mit.edu	37	18	14763986	14763986	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:14763986C>G	uc010dlo.2	+	6	1302	c.1122C>G	c.(1120-1122)tgC>tgG	p.C374W	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.C374W	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	374										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGACTGAATGCGTGGCAGGAG	0.363													G	14763986	C	G	14763986	3	3	184	1	0	0	0	0	1	0	0	0	659	776	27	5	1148	5	ANKRD30B	18	14763986	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		14763986	63313262	37	12792											
DSEL	92126	broad.mit.edu	37	18	65181103	65181103	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:65181103T>C	uc002lke.1	-	1	1997	c.773A>G	c.(772-774)aAt>aGt	p.N258S	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.N258S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	248						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTCCATATATTTGCTTTAGA	0.418													C	65181103	T	C	65181103	3	2	184	1	0	0	0	0	1	0	0	0	4775	1493	52	4	2899	4	DSEL	18	65181103	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08	50417117	65181103	12896145	38	12793											
KLK15	55554	broad.mit.edu	37	19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	rs140896741	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr19:51330985G>A	uc002ptl.3	-	1	161	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	KLK15_uc002ptm.3_Missense_Mutation_p.R44C|KLK15_uc002ptn.3_Missense_Mutation_p.R44C|KLK15_uc002pto.3_Missense_Mutation_p.R43C|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.R43C|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	44	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGTTAAAGCGTCCACGCTCG	0.612													A	51330985	G	A	51330985	3	1	184	1	0	0	0	0	1	0	0	0	8403	1145	40	1	656	1	KLK15	19	51330985	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		51330985	7797998	39	12794											
RRP1B	23076	broad.mit.edu	37	21	45113183	45113183	+	Silent	SNP	A	A	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr21:45113183A>C	uc002zdk.3	+	15	2310	c.2196A>C	c.(2194-2196)tcA>tcC	p.S732S	RRP1B_uc002zdl.3_Silent_p.S265S	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	732					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCACCAGCTCACCTGCCAGCT	0.612													C	45113183	A	C	45113183	2	2	184	1	0	0	0	0	0	0	0	1	13688	146	6	5		5	RRP1B	21	45113183	Silent	SNP	A	TCGA-27-1832-01A-01W-0643-08		45113183	3016712	40	12795											
C22orf42	150297	broad.mit.edu	37	22	32546408	32546408	+	Silent	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr22:32546408C>T	uc003amd.3	-	6	593	c.552G>A	c.(550-552)tcG>tcA	p.S184S		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	184								p.S184S(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CACTGAGATCCGATGTCATGA	0.458													T	32546408	C	T	32546408	2	4	184	1	0	0	0	0	0	0	0	1	2149	639	23	2		2	C22orf42	22	32546408	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08		32546408	18758158	41	12796											
TMPRSS6	164656	broad.mit.edu	37	22	37469590	37469590	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr22:37469590C>T	uc003aqt.1	-	12	1599	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	TMPRSS6_uc003aqs.1_Missense_Mutation_p.E522K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	522	LDL-receptor class A 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.G512W(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTGCTCTTCGTCGCTGCCG	0.552													T	37469590	C	T	37469590	3	4	184	1	0	0	0	0	1	0	0	0	16248	893	31	2	895	2	TMPRSS6	22	37469590	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	4923182	37469590	13834976	42	12797											
STS	412	broad.mit.edu	37	X	7194035	7194035	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:7194035G>A	uc004cry.4	+	5	1110	c.865G>A	c.(865-867)Gtg>Atg	p.V289M		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	289					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CTACCTCCACGTGCACACAGC	0.453									Ichthyosis				A	7194035	G	A	7194035	3	1	184	1	0	0	0	0	1	0	0	0	15331	1145	40	1	887	1	STS	23	7194035	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		7194035	148076525	43	12798											
PHF16	9767	broad.mit.edu	37	X	46918293	46918293	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:46918293G>C	uc004dgx.3	+	10	2337	c.2286G>C	c.(2284-2286)caG>caC	p.Q762H	PHF16_uc004dgy.3_Missense_Mutation_p.Q762H	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	762					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTCCATATCAGGAAAATGATG	0.483													C	46918293	G	C	46918293	3	2	184	1	0	0	0	0	1	0	0	0	11827	991	35	5	2324	5	PHF16	23	46918293	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	39724258	46918293	108352267	44	12799											
SLC6A14	11254	broad.mit.edu	37	X	115582754	115582754	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:115582754T>G	uc004eqi.3	+	7	1209	c.1078T>G	c.(1078-1080)Ttt>Gtt	p.F360V		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	360					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V359L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CACTAGCGTGTTTGCTGGATT	0.358													G	115582754	T	G	115582754	3	3	184	1	0	0	0	0	1	0	0	0	14677	1725	60	5	1108	5	SLC6A14	23	115582754	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08	68664461	115582754	39687806	45	12800											
CDR1	1038	broad.mit.edu	37	X	139865904	139865904	+	Missense_Mutation	SNP	C	C	T	rs143948461		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:139865904C>T	uc004fbg.1	-	0	820	c.628G>A	c.(628-630)Gga>Aga	p.G210R	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	210								p.G210R(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCACATCTTCCGGAAAAAATC	0.438													T	139865904	C	T	139865904	3	4	184	1	0	0	0	0	1	0	0	0	3171	661	23	2	164	2	CDR1	23	139865904	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	24283150	139865904	15404656	46	12801											
GJB3	2707	broad.mit.edu	37	1	35250842	35250842	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:35250842G>A	uc001bxz.4	+	0	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJB3_uc001bxx.3_Missense_Mutation_p.R160H|GJB3_uc001bxy.3_Missense_Mutation_p.R160H	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	160					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.R160H(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATATGCCGCGCCTGGTGCAG	0.552													A	35250842	G	A	35250842	3	1	185	1	0	0	0	0	1	0	0	0	6409	1087	38	1	481	1	GJB3	1	35250842	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		35250842	213999779	1	12802											
EPHA10	284656	broad.mit.edu	37	1	38227109	38227109	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:38227109G>A	uc009vvi.3	-	2	904	c.818C>T	c.(817-819)gCg>gTg	p.A273V	EPHA10_uc001cbw.4_Missense_Mutation_p.A273V	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	273						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.A273A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGAATCCCGCGCTGCAGCT	0.677													A	38227109	G	A	38227109	3	1	185	1	0	0	0	0	1	0	0	0	5166	1087	38	1	2306	1	EPHA10	1	38227109	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	2976267	38227109	211023512	2	12803											
LRRIQ3	127255	broad.mit.edu	37	1	74507363	74507363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:74507363G>A	uc001dfy.4	-	6	1444	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	418								p.L417L(1)|p.R418Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTAAATGTTCGGAGTTTCATA	0.363													A	74507363	G	A	74507363	4	1	185	1	0	0	0	0	0	1	0	0	9030	1124	39	2	630	2	LRRIQ3	1	74507363	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	36280254	74507363	174743258	3	12804											
NBPF10	400818	broad.mit.edu	37	1	144615288	144615288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:144615288C>T	uc009wig.1	+	2	348	c.154C>T	c.(154-156)Cga>Tga	p.R52*	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_5'UTR|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR|NBPF10_uc009wif.1_Non-coding_Transcript|PFN1P2_uc001elf.4_5'Flank	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	54										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)		CCTGGCCAACCGACAGAAGAA	0.448													T	144615288	C	T	144615288	4	4	185	1	0	0	0	0	0	1	0	0	10193	652	23	2		2	NBPF10	1	144615288	Nonsense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	70107925	144615288	104635333	4	12805											
ILDR2	387597	broad.mit.edu	37	1	166904584	166904584	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:166904584A>T	uc001gdx.2	-	5	890	c.834T>A	c.(832-834)caT>caA	p.H278Q		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	278						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGGGAGGTGGATGCGGCTTGT	0.617													T	166904584	A	T	166904584	3	4	185	1	0	0	0	0	1	0	0	0	7710	330	12	5	1105	5	ILDR2	1	166904584	Missense_Mutation	SNP	A	TCGA-27-1833-01A-01W-0643-08	22289296	166904584	82346037	5	12806											
CPS1	1373	broad.mit.edu	37	2	211481222	211481222	+	Missense_Mutation	SNP	C	C	T	rs148519116		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:211481222C>T	uc010fur.3	+	21	2744	c.2662C>T	c.(2662-2664)Cgt>Tgt	p.R888C	CPS1_uc002vee.4_Missense_Mutation_p.R882C|CPS1_uc010fus.3_Missense_Mutation_p.R431C|CPS1-IT1_uc002vef.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	882					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			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)		GTATAAGATGCGTGATATTTT	0.408													T	211481222	C	T	211481222	3	4	185	1	0	0	0	0	1	0	0	0	3823	768	27	1	2748	1	CPS1	2	211481222	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		211481222	31718151	6	12807											
NCL	4691	broad.mit.edu	37	2	232326477	232326477	+	Silent	SNP	G	G	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:232326477G>T	uc002vru.3	-	2	528	c.387C>A	c.(385-387)atC>atA	p.I129I	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	129	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCTTGGCTGGGATGGCAGCAC	0.532													T	232326477	G	T	232326477	2	4	185	1	0	0	0	0	0	0	0	1	10226	1164	41	5		5	NCL	2	232326477	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	20845255	232326477	10872896	7	12808											
SH3BP4	23677	broad.mit.edu	37	2	235950763	235950763	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:235950763C>T	uc002vvp.3	+	3	1743	c.1350C>T	c.(1348-1350)taC>taT	p.Y450Y	SH3BP4_uc010fym.3_Silent_p.Y450Y|SH3BP4_uc002vvq.3_Silent_p.Y450Y	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	450					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTGTATGTACGTGGCTGTCG	0.577													T	235950763	C	T	235950763	2	4	185	1	0	0	0	0	0	0	0	1	14246	547	19	1		1	SH3BP4	2	235950763	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	3624286	235950763	7248610	8	12809											
D2HGDH	728294	broad.mit.edu	37	2	242683167	242683167	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:242683167C>T	uc002wce.1	+	4	794	c.621C>T	c.(619-621)aaC>aaT	p.N207N	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.N73N|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	207	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGCAACCAACGCTGGAGGCC	0.617													T	242683167	C	T	242683167	2	4	185	1	0	0	0	0	0	0	0	1	4213	535	19	1		1	D2HGDH	2	242683167	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	6732404	242683167	516206	9	12810											
CNTN6	27255	broad.mit.edu	37	3	1418745	1418745	+	Missense_Mutation	SNP	G	G	A	rs140014929		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:1418745G>A	uc003boz.3	+	16	2419	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I	CNTN6_uc011asj.2_Missense_Mutation_p.V646I|CNTN6_uc003bpa.3_Missense_Mutation_p.V718I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	718	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.V718I(4)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTGAACTCGTCATTACGTG	0.373													A	1418745	G	A	1418745	3	1	185	1	0	0	0	0	1	0	0	0	3645	1145	40	1	2214	1	CNTN6	3	1418745	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		1418745	196603685	10	12811											
RARB	5915	broad.mit.edu	37	3	25215958	25215958	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:25215958C>A	uc011awl.2	+	0	136	c.70C>A	c.(70-72)Ccc>Acc	p.P24T		NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	24	Modulating.				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			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)	TCCAGCCACACCCTACCCGTT	0.592													A	25215958	C	A	25215958	3	1	185	1	0	0	0	0	1	0	0	0	13053	522	18	5		5	RARB	3	25215958	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	23797213	25215958	172806472	11	12812											
CYP8B1	1582	broad.mit.edu	37	3	42916827	42916827	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:42916827G>A	uc003cmh.3	-	0	807	c.482C>T	c.(481-483)gCc>gTc	p.A161V	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	161					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCAGCAACTGGCATCCAGACT	0.522													A	42916827	G	A	42916827	3	1	185	1	0	0	0	0	1	0	0	0	4198	1203	42	3	1027	3	CYP8B1	3	42916827	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	17700869	42916827	155105603	12	12813											
WHSC1	7468	broad.mit.edu	37	4	1955109	1955109	+	Silent	SNP	A	A	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr4:1955109A>G	uc003gdz.4	+	11	2372	c.2196A>G	c.(2194-2196)gtA>gtG	p.V732V	WHSC1_uc003geb.4_Silent_p.V732V|WHSC1_uc003gec.4_Silent_p.V732V|WHSC1_uc003ged.4_Silent_p.V732V|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_5'UTR|WHSC1_uc011bvh.2_5'UTR|WHSC1_uc010icf.3_Silent_p.V80V	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	732					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCTGTGTGGTAACTCAGTGTG	0.458			T	IGH@	MM								G	1955109	A	G	1955109	2	3	185	1	0	0	0	0	0	0	0	1	17359	349	13	4		4	WHSC1	4	1955109	Silent	SNP	A	TCGA-27-1833-01A-01W-0643-08		1955109	189199167	13	12814											
PAM	5066	broad.mit.edu	37	5	102360910	102360911	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr5:102360910_102360911delAG	uc003knt.3	+	22	2934_2935	c.2561_2562delAG	c.(2560-2562)cagfs	p.Q854fs	PAM_uc003knw.3_Frame_Shift_Del_p.Q854fs|PAM_uc003kns.3_Frame_Shift_Del_p.Q747fs|PAM_uc003knu.3_Intron|PAM_uc011cuz.2_Frame_Shift_Del_p.Q756fs|PAM_uc003knv.3_Intron|PAM_uc003knz.3_Frame_Shift_Del_p.Q94fs	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	854					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAAGAGAAACAGAAACTGATCA	0.46													-	102360911	AG	-	102360910	7	5	185	1	0	1	0	1	0	0	0	0	11412	188	7	0	2651	0	PAM	5	102360910	Frame_Shift_Del	DEL	AG	TCGA-27-1833-01A-01W-0643-08		102360910	78554350	14	12815											
PKHD1	5314	broad.mit.edu	37	6	51523917	51523917	+	Silent	SNP	C	C	T	rs142855690	by1000genomes	TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr6:51523917C>T	uc003pah.1	-	60	11283	c.11007G>A	c.(11005-11007)tcG>tcA	p.S3669S		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3669					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			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)					TTACTGTTGGCGAATCACCAA	0.423													T	51523917	C	T	51523917	2	4	185	1	0	0	0	0	0	0	0	1	11971	755	27	1		1	PKHD1	6	51523917	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08		51523917	119591150	15	12816											
TRAF3IP2	10758	broad.mit.edu	37	6	111912560	111912560	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr6:111912560A>G	uc011ebc.2	-	2	1345	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvg.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc003pvf.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdw.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.Y244H	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	253					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CATGCTGGATACCTCTGAGGT	0.572													G	111912560	A	G	111912560	3	3	185	1	0	0	0	0	1	0	0	0	16438	391	14	4	999	4	TRAF3IP2	6	111912560	Missense_Mutation	SNP	A	TCGA-27-1833-01A-01W-0643-08	60388643	111912560	59202507	16	12817											
PON1	5444	broad.mit.edu	37	7	94953757	94953757	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:94953757C>A	uc003uns.3	-	0	128	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PON1_uc011kih.2_Intron	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	11					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AGTCCCATCCCCAAGAGGGTG	0.607													A	94953757	C	A	94953757	3	1	185	1	0	0	0	0	1	0	0	0	12248	623	22	5	1072	5	PON1	7	94953757	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		94953757	64184906	17	12818											
TRRAP	8295	broad.mit.edu	37	7	98580929	98580935	+	Frame_Shift_Del	DEL	AACGCAG	AACGCAG	-			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:98580929_98580935delAACGCAG	uc003upp.3	+	58	9057_9063	c.8848_8854delAACGCAG	c.(8848-8856)aacgcaggcfs	p.N2950fs	TRRAP_uc011kis.2_Frame_Shift_Del_p.N2932fs|TRRAP_uc003upr.3_Frame_Shift_Del_p.N2649fs	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2950	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.T2951A(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCACAAATCAACGCAGGCTTACAGCC	0.522													-	98580935	AACGCAG	-	98580929	7	5	185	1	0	1	0	1	0	0	0	0	16598	130	5	0	9020	0	TRRAP	7	98580929	Frame_Shift_Del	DEL	AACGCAG	TCGA-27-1833-01A-01W-0643-08	3627172	98580929	60557734	18	12819											
PIK3CG	5294	broad.mit.edu	37	7	106513286	106513286	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:106513286C>T	uc003vdv.4	+	3	2275	c.2190C>T	c.(2188-2190)caC>caT	p.H730H	PIK3CG_uc003vdu.3_Silent_p.H730H|PIK3CG_uc003vdw.3_Silent_p.H730H	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	730					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			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						CCATGCTGCACGACTTTACCC	0.473													T	106513286	C	T	106513286	2	4	185	1	0	0	0	0	0	0	0	1	11916	535	19	1		1	PIK3CG	7	106513286	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	7932357	106513286	52625377	19	12820											
AKR1B15	441282	broad.mit.edu	37	7	134260192	134260192	+	Silent	SNP	C	C	T	rs4035285		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:134260192C>T	uc011kpr.2	+	6	833	c.534C>T	c.(532-534)gaC>gaT	p.D178D		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	178							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGCTGGTGGACGAGGGGCTGG	0.517													T	134260192	C	T	134260192	2	4	185	1	0	0	0	0	0	0	0	1	468	535	19	1		1	AKR1B15	7	134260192	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	27746906	134260192	24878471	20	12821											
MLL3	58508	broad.mit.edu	37	7	151877846	151877846	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:151877846T>C	uc003wla.3	-	35	7318	c.7099A>G	c.(7099-7101)Aca>Gca	p.T2367A	MLL3_uc003wkz.3_Missense_Mutation_p.T1428A|MLL3_uc003wky.3_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2367					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTATTCTGTGTATCAGTTACT	0.428			N		medulloblastoma								C	151877846	T	C	151877846	3	2	185	1	0	0	0	0	1	0	0	0	9622	1638	57	4	7732	4	MLL3	7	151877846	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	17617654	151877846	7260817	21	12822											
FLJ43860	389690	broad.mit.edu	37	8	142476586	142476586	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr8:142476586G>A	uc003ywi.2	-	18	2481	c.2400C>T	c.(2398-2400)caC>caT	p.H800H	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	800							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTGATGGCGTGCAGGGTCT	0.632													A	142476586	G	A	142476586	2	1	185	1	0	0	0	0	0	0	0	1	5930	1136	40	1		1	FLJ43860	8	142476586	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		142476586	3887436	22	12823											
HSF1	3297	broad.mit.edu	37	8	145537533	145537533	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr8:145537533C>T	uc003zbt.4	+	10	1443	c.1273C>T	c.(1273-1275)Ccc>Tcc	p.P425S	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	425	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGTGACCGTGCCCGACATGAG	0.716													T	145537533	C	T	145537533	3	4	185	1	0	0	0	0	1	0	0	0	7395	739	26	3	1315	3	HSF1	8	145537533	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	3060947	145537533	826489	23	12824											
EXD3	54932	broad.mit.edu	37	9	140201615	140201615	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr9:140201615G>A	uc004cmp.2	-	21	2614	c.2418C>T	c.(2416-2418)gcC>gcT	p.A806A	EXD3_uc010ncf.1_Silent_p.A444A	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	806					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GGGTGCCGTCGGCCAGCATGT	0.697													A	140201615	G	A	140201615	2	1	185	1	0	0	0	0	0	0	0	1	5299	1103	39	2		2	EXD3	9	140201615	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		140201615	1011816	24	12825											
MPP7	143098	broad.mit.edu	37	10	28345469	28345469	+	Silent	SNP	T	T	C			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:28345469T>C	uc001iua.1	-	17	1895	c.1491A>G	c.(1489-1491)acA>acG	p.T497T	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.T497T|MPP7_uc009xla.2_Silent_p.T497T|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	497	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CATTTTTTCTTGTTTCTCTCA	0.403													C	28345469	T	C	28345469	2	2	185	1	0	0	0	0	0	0	0	1	9739	1799	63	4		4	MPP7	10	28345469	Silent	SNP	T	TCGA-27-1833-01A-01W-0643-08		28345469	107189278	25	12826											
OGDHL	55753	broad.mit.edu	37	10	50943387	50943387	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:50943387G>A	uc009xog.3	-	21	3035	c.3001C>T	c.(3001-3003)Cgg>Tgg	p.R1001W	OGDHL_uc001jie.3_Missense_Mutation_p.R974W|OGDHL_uc010qgt.2_Missense_Mutation_p.R917W|OGDHL_uc010qgu.2_Missense_Mutation_p.R765W	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	974					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			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						GCTGGGTCCCGGCCAACATAC	0.622													A	50943387	G	A	50943387	3	1	185	1	0	0	0	0	1	0	0	0	10840	1115	39	2	116	2	OGDHL	10	50943387	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	22597918	50943387	84591360	26	12827											
A1CF	29974	broad.mit.edu	37	10	52596064	52596064	+	Missense_Mutation	SNP	C	C	T	rs148254279		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:52596064C>T	uc001jjj.3	-	5	562	c.374G>A	c.(373-375)cGc>cAc	p.R125H	A1CF_uc010qho.2_Missense_Mutation_p.R133H|A1CF_uc010qhn.2_Missense_Mutation_p.R133H|A1CF_uc009xov.3_Missense_Mutation_p.R125H|A1CF_uc001jji.3_Missense_Mutation_p.R125H|A1CF_uc001jjh.3_Missense_Mutation_p.R133H	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	125	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCCTAAGAGGCGCCCATTTCT	0.438													T	52596064	C	T	52596064	3	4	185	1	0	0	0	0	1	0	0	0	2	768	27	1	1442	1	A1CF	10	52596064	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	1652677	52596064	82938683	27	12828											
CNNM1	26507	broad.mit.edu	37	10	101147663	101147663	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:101147663C>T	uc010qpi.2	+	8	2779	c.2490C>T	c.(2488-2490)gaC>gaT	p.D830D	CNNM1_uc001kpp.4_Silent_p.D809D|CNNM1_uc009xwf.3_Silent_p.D809D|CNNM1_uc009xwg.3_Silent_p.D209D	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	809					ion transport	integral to membrane|plasma membrane		p.D444D(1)|p.D809D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCTTCACAGACGGGGACTCCA	0.602													T	101147663	C	T	101147663	2	4	185	1	0	0	0	0	0	0	0	1	3612	535	19	1		1	CNNM1	10	101147663	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	48551599	101147663	34387084	28	12829											
DCHS1	8642	broad.mit.edu	37	11	6654846	6654846	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:6654846C>T	uc001mem.1	-	4	2653	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	751	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R751W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATTGGCCCGTCTGGCCAA	0.547													T	6654846	C	T	6654846	3	4	185	1	0	0	0	0	1	0	0	0	4287	652	23	2	7712	2	DCHS1	11	6654846	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		6654846	128351670	29	12830											
OR4C6	219432	broad.mit.edu	37	11	55432767	55432767	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:55432767T>A	uc010rik.2	+	0	125	c.125T>A	c.(124-126)cTt>cAt	p.L42H		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GAAAATCTACTTATTGTGGTA	0.393													A	55432767	T	A	55432767	3	1	185	1	0	0	0	0	1	0	0	0	11052	1609	56	5	127	5	OR4C6	11	55432767	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	48777921	55432767	79573749	30	12831											
TMEM109	79073	broad.mit.edu	37	11	60687272	60687272	+	Missense_Mutation	SNP	G	G	A	rs139328208		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:60687272G>A	uc001nqg.3	+	1	485	c.107G>A	c.(106-108)cGt>cAt	p.R36H		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	36						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GCCCAGTCCCGTCGAGACTTT	0.547													A	60687272	G	A	60687272	3	1	185	1	0	0	0	0	1	0	0	0	16022	1145	40	1	109	1	TMEM109	11	60687272	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	5254505	60687272	74319244	31	12832											
NXF1	10482	broad.mit.edu	37	11	62561731	62561731	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:62561731T>C	uc001nvf.1	-	19	1896	c.1760_splice	c.e19+1	p.K587_splice	TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_Splice_Site|NXF1_uc009yog.1_Splice_Site	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	587	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCACTCACTTCTGGGACCAC	0.517													C	62561731	T	C	62561731	3	2	185	1	0	0	0	0	1	0	0	0	10782	1797	62	4	112	4	NXF1	11	62561731	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	1874459	62561731	72444785	32	12833											
MAP4K2	5871	broad.mit.edu	37	11	64559447	64559448	+	Frame_Shift_Ins	INS	-	-	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:64559447_64559448insG	uc001obh.3	-	26	2117_2118	c.2025_2026insC	c.(2023-2028)ggctgcfs	p.G675fs	MAP4K2_uc001obi.3_Frame_Shift_Ins_p.G667fs	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	675	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGACGCGGCAGCCGGGCCCCT	0.708													G	64559448	-	G	64559447	7	5	185	1	0	1	1	0	0	0	0	0	9260	188	7	0	460	0	MAP4K2	11	64559447	Frame_Shift_Ins	INS	-	TCGA-27-1833-01A-01W-0643-08	1997716	64559447	70447069	33	12834											
SLCO1B3	28234	broad.mit.edu	37	12	21229466	21229466	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr12:21229466C>T	uc010sil.2	+	14	2076	c.2011C>T	c.(2011-2013)Cga>Tga	p.R671*	SLCO1B3_uc010sim.2_Nonsense_Mutation_p.R610*|SLCO1B3_uc010sin.2_Nonsense_Mutation_p.R563*			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	638					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTGTGGAGCACGAGGGGCTTG	0.358													T	21229466	C	T	21229466	4	4	185	1	0	0	0	0	0	1	0	0	14724	528	19	1		1	SLCO1B3	12	21229466	Nonsense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		21229466	112622429	34	12835											
STAC3	246329	broad.mit.edu	37	12	57642900	57642900	+	Silent	SNP	G	G	A	rs148939626		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr12:57642900G>A	uc001snp.2	-	2	460	c.258C>T	c.(256-258)aaC>aaT	p.N86N	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Silent_p.N47N|STAC3_uc010srm.1_Intron	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	86					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GGGGCTTATCGTTGACCAGCT	0.507													A	57642900	G	A	57642900	2	1	185	1	0	0	0	0	0	0	0	1	15240	1136	40	1		1	STAC3	12	57642900	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	36413434	57642900	76208995	35	12836											
SACS	26278	broad.mit.edu	37	13	23908788	23908788	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr13:23908788G>T	uc001uon.2	-	9	9816	c.9227C>A	c.(9226-9228)aCt>aAt	p.T3076N	SACS_uc001uoo.2_Missense_Mutation_p.T2929N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3076					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATTAGCAGTTTCATCACA	0.358													T	23908788	G	T	23908788	3	4	185	1	0	0	0	0	1	0	0	0	13804	1029	36	5	4516	5	SACS	13	23908788	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		23908788	91261090	36	12837											
SPTB	6710	broad.mit.edu	37	14	65270332	65270332	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr14:65270332C>T	uc001xht.3	-	2	518	c.467G>A	c.(466-468)cGc>cAc	p.R156H	SPTB_uc001xhr.3_Missense_Mutation_p.R156H|SPTB_uc001xhs.3_Missense_Mutation_p.R156H|SPTB_uc001xhu.3_Missense_Mutation_p.R156H	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	156	Actin-binding.|CH 1.				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			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)		CACCTGGAAGCGGAGGATGAT	0.572													T	65270332	C	T	65270332	3	4	185	1	0	0	0	0	1	0	0	0	15117	768	27	1	6720	1	SPTB	14	65270332	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		65270332	42079208	37	12838											
WDR72	256764	broad.mit.edu	37	15	53992060	53992060	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr15:53992060A>T	uc002acj.2	-	12	1694	c.1652T>A	c.(1651-1653)cTg>cAg	p.L551Q	WDR72_uc010bfi.1_Missense_Mutation_p.L551Q	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	551										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CCGGGCATGCAGGAGGCAACT	0.463													T	53992060	A	T	53992060	3	4	185	1	0	0	0	0	1	0	0	0	17319	188	7	5	1688	5	WDR72	15	53992060	Missense_Mutation	SNP	A	TCGA-27-1833-01A-01W-0643-08		53992060	48539332	38	12839											
MEF2A	4205	broad.mit.edu	37	15	100230497	100230497	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr15:100230497G>A	uc010urw.2	+	6	1087	c.728G>A	c.(727-729)gGt>gAt	p.G243D	MEF2A_uc002bve.3_Missense_Mutation_p.G241D|MEF2A_uc002bvg.3_Missense_Mutation_p.G241D|MEF2A_uc010urv.2_Missense_Mutation_p.G173D|MEF2A_uc010bos.3_Missense_Mutation_p.G241D|MEF2A_uc002bvf.3_Missense_Mutation_p.G243D|MEF2A_uc002bvi.3_Missense_Mutation_p.G241D|MEF2A_uc010bot.3_Missense_Mutation_p.G173D	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	243					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GGAGCTACTGGTGCAAATAGC	0.413													A	100230497	G	A	100230497	3	1	185	1	0	0	0	0	1	0	0	0	9455	1261	44	3	886	3	MEF2A	15	100230497	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	46238437	100230497	2300895	39	12840											
CACNA1H	8912	broad.mit.edu	37	16	1255218	1255218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:1255218C>A	uc002cks.3	+	10	2804	c.2556C>A	c.(2554-2556)taC>taA	p.Y852*	CACNA1H_uc002ckt.3_Nonsense_Mutation_p.Y852*	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	852					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTCTGGGCTACATCCGGAACC	0.597													A	1255218	C	A	1255218	4	1	185	1	0	0	0	0	0	1	0	0	2545	489	17	5	2594	5	CACNA1H	16	1255218	Nonsense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		1255218	89099535	40	12841											
MAPK8IP3	23162	broad.mit.edu	37	16	1816093	1816093	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:1816093G>A	uc010uvl.2	+	20	2699	c.2579G>A	c.(2578-2580)cGg>cAg	p.R860Q	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R859Q|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R849Q|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R853Q	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	859					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.R859Q(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AACGTGCCGCGGAGCAACTGC	0.662													A	1816093	G	A	1816093	3	1	185	1	0	0	0	0	1	0	0	0	9286	1116	39	2	2674	2	MAPK8IP3	16	1816093	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	560875	1816093	88538660	41	12842											
SCNN1G	6340	broad.mit.edu	37	16	23200784	23200784	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:23200784G>A	uc002dlm.1	+	2	549	c.410G>A	c.(409-411)cGc>cAc	p.R137H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	137					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCGGAAGCGCCGAGAGGCG	0.577													A	23200784	G	A	23200784	3	1	185	1	0	0	0	0	1	0	0	0	13930	1087	38	1	416	1	SCNN1G	16	23200784	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	21384691	23200784	67153969	42	12843											
IL4R	3566	broad.mit.edu	37	16	27357789	27357789	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:27357789G>A	uc002don.3	+	6	604	c.362_splice	c.e6-1	p.V121_splice	IL4R_uc002dom.3_Splice_Site_p.V121_splice|IL4R_uc002dop.4_Splice_Site_p.V106_splice|IL4R_uc010bxy.3_Splice_Site_p.V121_splice|IL4R_uc002doo.3_Splice_Site	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	121					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTCCCGCAGTGAAACCCAGGG	0.567													A	27357789	G	A	27357789	2	1	185	1	0	0	0	0	0	0	0	1	7698	1304	45	3		3	IL4R	16	27357789	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	4157005	27357789	62996964	43	12844											
DNAH9	1770	broad.mit.edu	37	17	11684359	11684359	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:11684359G>A	uc002gne.3	+	38	7654	c.7586G>A	c.(7585-7587)gGc>gAc	p.G2529D	DNAH9_uc010coo.3_Missense_Mutation_p.G1823D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2529	AAA 3 (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			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)		AAGAAGGCTGGCAGAAACTAT	0.542													A	11684359	G	A	11684359	3	1	185	1	0	0	0	0	1	0	0	0	4608	1203	42	3	7740	3	DNAH9	17	11684359	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		11684359	69510851	44	12845											
CDRT15	146822	broad.mit.edu	37	17	14140072	14140072	+	Nonsense_Mutation	SNP	G	G	A	rs147270904	byFrequency	TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:14140072G>A	uc010vvu.2	-	0	79	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN	Homo sapiens CMT1A duplicated region transcript 15 (CDRT15), mRNA.	27								p.R27*(2)		endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGCCTTCTTCGGCATCGTCGG	0.597													A	14140072	G	A	14140072	4	1	185	1	0	0	0	0	0	1	0	0	3175	1124	39	2	497	2	CDRT15	17	14140072	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	2455713	14140072	67055138	45	12846											
CCL3	6348	broad.mit.edu	37	17	34416095	34416095	+	Nonsense_Mutation	SNP	G	G	A	rs5029409		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:34416095G>A	uc002hkv.3	-	2	304	c.202C>T	c.(202-204)Cga>Tga	p.R68*		NM_002983	NP_002974	P10147	CCL3_HUMAN	Homo sapiens chemokine (C-C motif) ligand 3 (CCL3), mRNA.	68		Involved in GAG binding.			cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCGGCTTCGCTTGGTTAGG	0.597													A	34416095	G	A	34416095	4	1	185	1	0	0	0	0	0	1	0	0	2901	1095	38	1	80	1	CCL3	17	34416095	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	20276023	34416095	46779115	46	12847											
JUP	3728	broad.mit.edu	37	17	39680449	39680449	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:39680449G>T	uc010wfs.2	-	7	1391	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	KRT15_uc002hxb.1_5'Flank|KRT15_uc002hxc.1_5'Flank|JUP_uc002hxd.4_Missense_Mutation_p.D298E	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGCGCCGCAGGTCAGTAACCT	0.577													T	39680449	G	T	39680449	3	4	185	1	0	0	0	0	1	0	0	0	7972	1252	44	5		5	JUP	17	39680449	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	5264354	39680449	41514761	47	12848											
LRRC37A2	474170	broad.mit.edu	37	17	45127410	45127410	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:45127410C>T	uc010wkj.1	+	1	962	c.608C>T	c.(607-609)gCa>gTa	p.A203V	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1339						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTGATGCTCGCAAACAGGCCT	0.473													T	45127410	C	T	45127410	3	4	185	1	0	0	0	0	1	0	0	0	8992	725	25	3		3	LRRC37A2	17	45127410	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	5446961	45127410	36067800	48	12849											
IGF2BP1	10642	broad.mit.edu	37	17	47115648	47115648	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:47115648C>T	uc002iom.3	+	5	854	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	174					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTTGGCTCTCGGGGTCAGCC	0.652													T	47115648	C	T	47115648	3	4	185	1	0	0	0	0	1	0	0	0	7573	875	31	2	542	2	IGF2BP1	17	47115648	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	1988238	47115648	34079562	49	12850											
SOX9	6662	broad.mit.edu	37	17	70117782	70117782	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:70117782T>G	uc002jiw.3	+	0	622	c.250T>G	c.(250-252)Tac>Gac	p.Y84D	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	84					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCTCAAAGGCTACGACTGGAC	0.637													G	70117782	T	G	70117782	3	3	185	1	0	0	0	0	1	0	0	0	14958	1522	53	5	252	5	SOX9	17	70117782	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	23002134	70117782	11077428	50	12851											
EPB41L3	23136	broad.mit.edu	37	18	5406824	5406824	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr18:5406824G>A	uc002kmt.1	-	15	2387	c.2301C>T	c.(2299-2301)gcC>gcT	p.A767A	EPB41L3_uc010wzh.1_Silent_p.A598A|EPB41L3_uc002kmu.1_Silent_p.A586A|EPB41L3_uc010dkq.1_Silent_p.A477A|EPB41L3_uc002kms.1_Silent_p.A39A|EPB41L3_uc010wze.1_Silent_p.A39A|EPB41L3_uc010wzf.1_Silent_p.A39A|EPB41L3_uc010wzg.1_Silent_p.A39A|EPB41L3_uc010dkr.2_Silent_p.A159A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	767	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTGCCTGGCGGCCAGTCGCA	0.527													A	5406824	G	A	5406824	2	1	185	1	0	0	0	0	0	0	0	1	5154	1103	39	2		2	EPB41L3	18	5406824	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		5406824	72670424	51	12852											
SERPINB2	5055	broad.mit.edu	37	18	61569672	61569672	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr18:61569672G>A	uc010xeu.2	+	7	1046	c.713G>A	c.(712-714)cGt>cAt	p.R238H	SERPINB2_uc002ljo.3_Missense_Mutation_p.R238H|SERPINB2_uc002ljp.1_Missense_Mutation_p.R43H|SERPINB2_uc002ljq.1_Missense_Mutation_p.R43H	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	238					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGTACTTGCGTGAAAAGCTA	0.363													A	61569672	G	A	61569672	3	1	185	1	0	0	0	0	1	0	0	0	14101	1145	40	1	735	1	SERPINB2	18	61569672	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	56162848	61569672	16507576	52	12853											
CACNA1A	773	broad.mit.edu	37	19	13410023	13410023	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:13410023C>T	uc002mwy.3	-	18	2660	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	CACNA1A_uc010dzc.2_Silent_p.T334T|CACNA1A_uc010xnd.2_Silent_p.T811T|CACNA1A_uc021ups.1_Silent_p.T808T|CACNA1A_uc010xne.2_Silent_p.T811T|CACNA1A_uc010dze.2_Silent_p.T808T|CACNA1A_uc021upt.1_Silent_p.T809T	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	809					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAGGTGCCGCGTGTAGGCAG	0.642													T	13410023	C	T	13410023	2	4	185	1	0	0	0	0	0	0	0	1	2538	755	27	1		1	CACNA1A	19	13410023	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08		13410023	45718960	53	12854											
FCGBP	8857	broad.mit.edu	37	19	40368357	40368357	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:40368357C>T	uc002omp.4	-	27	12999	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4331						extracellular region	protein binding	p.A4331T(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGGCAGGCGGCCACGTAG	0.647													T	40368357	C	T	40368357	3	4	185	1	0	0	0	0	1	0	0	0	5778	768	27	1	3262	1	FCGBP	19	40368357	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	26958334	40368357	18760626	54	12855											
B3GNT8	374907	broad.mit.edu	37	19	41932065	41932066	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:41932065_41932066delTG	uc002oqs.3	-	2	1072_1073	c.618_619delCA	c.(616-621)tacagtfs	p.Y206fs	B3GNT8_uc002oqt.1_Intron|B3GNT8_uc021uuy.1_Frame_Shift_Del_p.Y206fs	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (B3GNT8), mRNA.	206					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						AGCAGGTCACTGTAGCGACGGC	0.653													-	41932066	TG	-	41932065	7	5	185	1	0	1	0	1	0	0	0	0	1263	1580	55	0	578	0	B3GNT8	19	41932065	Frame_Shift_Del	DEL	TG	TCGA-27-1833-01A-01W-0643-08	1563708	41932065	17196918	55	12856											
GPR4	2828	broad.mit.edu	37	19	46094683	46094683	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:46094683C>T	uc002pcm.3	-	1	1387	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.A148T	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	148						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCCGAGTTGGCGCCCAGCTCC	0.672													T	46094683	C	T	46094683	3	4	185	1	0	0	0	0	1	0	0	0	6694	768	27	1	650	1	GPR4	19	46094683	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	4162618	46094683	13034300	56	12857											
GPR4	2828	broad.mit.edu	37	19	46094825	46094825	+	Silent	SNP	A	A	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:46094825A>G	uc002pcm.3	-	1	1245	c.300T>C	c.(298-300)aaT>aaC	p.N100N	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.N100N	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	100						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TGATGTAGATATTGGTGTAGA	0.622													G	46094825	A	G	46094825	2	3	185	1	0	0	0	0	0	0	0	1	6694	446	16	4		4	GPR4	19	46094825	Silent	SNP	A	TCGA-27-1833-01A-01W-0643-08	142	46094825	13034158	57	12858											
CCDC114	93233	broad.mit.edu	37	19	48807021	48807021	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:48807021C>T	uc002pir.2	-	7	1446	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	CCDC114_uc002piq.2_Missense_Mutation_p.V64I|CCDC114_uc002pio.3_Missense_Mutation_p.V292I|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.V292I|CCDC114_uc002piu.1_Missense_Mutation_p.V292I	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	255										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCTTCCAGACGCCCTCGGCC	0.632													T	48807021	C	T	48807021	3	4	185	1	0	0	0	0	1	0	0	0	2751	536	19	1	1277	1	CCDC114	19	48807021	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	2712196	48807021	10321962	58	12859											
CD33	945	broad.mit.edu	37	19	51728525	51728525	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:51728525C>T	uc002pwa.2	+	1	129	c.89C>T	c.(88-90)aCg>aTg	p.T30M	CD33_uc010eos.1_Missense_Mutation_p.T30M|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	30	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			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)	GAGTCAGTGACGGTACAGGAG	0.582													T	51728525	C	T	51728525	3	4	185	1	0	0	0	0	1	0	0	0	3005	536	19	1	95	1	CD33	19	51728525	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	2921504	51728525	7400458	59	12860											
CD33	945	broad.mit.edu	37	19	51729331	51729331	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:51729331G>A	uc002pwa.2	+	2	731	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CD33_uc010eos.1_Missense_Mutation_p.V231I|CD33_uc010eot.1_Missense_Mutation_p.V104I|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	231					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			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)	CCAGCTCAACGTCACCTGTAA	0.607													A	51729331	G	A	51729331	3	1	185	1	0	0	0	0	1	0	0	0	3005	1145	40	1	701	1	CD33	19	51729331	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	806	51729331	7399652	60	12861											
SEMG2	6407	broad.mit.edu	37	20	43851621	43851621	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:43851621G>A	uc010ggz.3	+	1	1405	c.1348G>A	c.(1348-1350)Gta>Ata	p.V450I	SEMG2_uc002xnk.3_Missense_Mutation_p.V450I|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	450	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCAAAACCAGGTAACAATTCC	0.383													A	43851621	G	A	43851621	3	1	185	1	0	0	0	0	1	0	0	0	14045	1261	44	3	1354	3	SEMG2	20	43851621	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		43851621	19173899	61	12862											
SULF2	55959	broad.mit.edu	37	20	46292214	46292214	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:46292214G>A	uc002xto.3	-	15	2540	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	SULF2_uc002xtr.3_Missense_Mutation_p.T737M|SULF2_uc002xtq.3_Missense_Mutation_p.T737M|SULF2_uc010zyd.2_Missense_Mutation_p.T16M	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	737					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAAAGGCGCCGTCTGCCAGTG	0.597											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46292214	G	A	46292214	3	1	185	1	0	0	0	0	1	0	0	0	15370	1145	40	1	426	1	SULF2	20	46292214	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	2440593	46292214	16733306	62	12863											
ZFP64	55734	broad.mit.edu	37	20	50803594	50803594	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:50803594C>T	uc002xwl.3	-	1	412	c.63G>A	c.(61-63)acG>acA	p.T21T	ZFP64_uc002xwk.3_Silent_p.T21T|ZFP64_uc002xwm.3_Silent_p.T19T|ZFP64_uc002xwn.3_Silent_p.T21T	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACCAGCACCGTTGTGCCAC	0.483													T	50803594	C	T	50803594	2	4	185	1	0	0	0	0	0	0	0	1	17649	639	23	2		2	ZFP64	20	50803594	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	4511380	50803594	12221926	63	12864											
LAMA5	3911	broad.mit.edu	37	20	60921843	60921843	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:60921843G>A	uc002ycq.3	-	7	1153	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_uc021wfw.1_Silent_p.Y362Y	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	362	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCATGGCCGTAGCAGTTAC	0.667													A	60921843	G	A	60921843	2	1	185	1	0	0	0	0	0	0	0	1	8609	1140	40	1		1	LAMA5	20	60921843	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	10118249	60921843	2103677	64	12865											
TMPRSS15	5651	broad.mit.edu	37	21	19770222	19770222	+	Silent	SNP	A	A	G			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr21:19770222A>G	uc002ykw.3	-	2	349	c.318T>C	c.(316-318)taT>taC	p.Y106Y		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	106	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGAGTTCTTATATTCATTCT	0.249													G	19770222	A	G	19770222	2	3	185	1	0	0	0	0	0	0	0	1	16243	456	16	4		4	TMPRSS15	21	19770222	Silent	SNP	A	TCGA-27-1833-01A-01W-0643-08		19770222	28359673	65	12866											
RIPK4	54101	broad.mit.edu	37	21	43161519	43161519	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr21:43161519C>T	uc002yzn.1	-	7	1882	c.1834G>A	c.(1834-1836)Gca>Aca	p.A612T		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	612						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGCGCTGTGCGGCCAGGTGC	0.687													T	43161519	C	T	43161519	3	4	185	1	0	0	0	0	1	0	0	0	13383	768	27	1	524	1	RIPK4	21	43161519	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	23391297	43161519	4968376	66	12867											
A4GALT	53947	broad.mit.edu	37	22	43089430	43089430	+	Silent	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr22:43089430G>A	uc003bdb.3	-	2	789	c.528C>T	c.(526-528)gaC>gaT	p.D176D	A4GALT_uc021wqo.1_Silent_p.D176D|A4GALT_uc021wqp.1_Silent_p.D176D|A4GALT_uc010gzd.3_Silent_p.D176D|A4GALT_uc021wqq.1_Silent_p.D176D	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	176					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	p.S175S(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TCCTGGAGGCGTCGGAGAGCA	0.652													A	43089430	G	A	43089430	2	1	185	1	0	0	0	0	0	0	0	1	6	1136	40	1		1	A4GALT	22	43089430	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		43089430	8215136	67	12868											
SHANK3	85358	broad.mit.edu	37	22	51159629	51159629	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr22:51159629C>T	uc003bne.1	+	21	3416	c.3416C>T	c.(3415-3417)gCg>gTg	p.A1139V	SHANK3_uc003bnf.1_Missense_Mutation_p.A586V	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1139										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCCTCCCAGGCGCCCTCCCGG	0.711													T	51159629	C	T	51159629	3	4	185	1	0	0	0	0	1	0	0	0	14266	768	27	1	3502	1	SHANK3	22	51159629	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	8070199	51159629	144937	68	12869											
MAGEB4	4115	broad.mit.edu	37	X	30260469	30260469	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:30260469G>A	uc004dcb.3	+	0	413	c.217G>A	c.(217-219)Gca>Aca	p.A73T	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	73										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CTCTGCTGCTGCAGCTATGTC	0.527													A	30260469	G	A	30260469	3	1	185	1	0	0	0	0	1	0	0	0	9178	1319	46	3	219	3	MAGEB4	23	30260469	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		30260469	125010091	69	12870											
CCDC120	90060	broad.mit.edu	37	X	48923077	48923077	+	Missense_Mutation	SNP	C	C	T	rs148446381		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:48923077C>T	uc011mmr.2	+	7	1067	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	CCDC120_uc010nik.3_Missense_Mutation_p.R259W|CCDC120_uc011mmq.2_Missense_Mutation_p.R247W|CCDC120_uc004dmf.3_Missense_Mutation_p.R259W|CCDC120_uc010nil.3_Missense_Mutation_p.R259W|CCDC120_uc011mms.2_Missense_Mutation_p.R247W|CCDC120_uc022bvz.1_5'Flank	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN	Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.	259							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GAGCCCTGAGCGGCGAACCCC	0.642													T	48923077	C	T	48923077	3	4	185	1	0	0	0	0	1	0	0	0	2756	759	27	1	797	1	CCDC120	23	48923077	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	18662608	48923077	106347483	70	12871											
BRWD3	254065	broad.mit.edu	37	X	79938109	79938109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:79938109G>A	uc004edt.3	-	37	4515	c.4252C>T	c.(4252-4254)Cga>Tga	p.R1418*	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.R1247*|BRWD3_uc004edq.3_Nonsense_Mutation_p.R1014*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edr.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eds.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edo.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edu.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004edv.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edw.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edx.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edy.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edz.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eea.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.R1014*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1418										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAGATAATCGCAGCATCATG	0.338													A	79938109	G	A	79938109	4	1	185	1	0	0	0	0	0	1	0	0	1526	1095	38	1	1172	1	BRWD3	23	79938109	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	31015032	79938109	75332451	71	12872											
NXF3	56000	broad.mit.edu	37	X	102334798	102334798	+	Silent	SNP	C	C	T			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:102334798C>T	uc004eju.3	-	13	1124	c.1053_splice	c.e13-1	p.Q351_splice	NXF3_uc010noi.1_Splice_Site_p.Q201_splice	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	351	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAAGTAATACCTGTTGGAGA	0.493													T	102334798	C	T	102334798	2	4	185	1	0	0	0	0	0	0	0	1	10785	521	18	3		3	NXF3	23	102334798	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	22396689	102334798	52935762	72	12873											
DVL1	1855	broad.mit.edu	37	1	1275475	1275475	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:1275475C>T	uc001aer.4	-	7	899	c.852G>A	c.(850-852)atG>atA	p.M284I	DVL1_uc009vka.3_5'UTR|DVL1_uc002quu.3_Missense_Mutation_p.M1I|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	284	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCCGCCCTTCATGATGGAGC	0.627													T	1275475	C	T	1275475	3	4	186	1	0	0	0	0	1	0	0	0	4835	826	29	3	1192	3	DVL1	1	1275475	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		1275475	247975146	1	12874											
AGL	178	broad.mit.edu	37	1	100382185	100382185	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:100382185G>A	uc001dsi.1	+	32	4779	c.4379G>A	c.(4378-4380)cGt>cAt	p.R1460H	AGL_uc001dsj.1_Missense_Mutation_p.R1460H|AGL_uc001dsk.1_Missense_Mutation_p.R1460H|AGL_uc001dsl.1_Missense_Mutation_p.R1460H|AGL_uc001dsm.1_Missense_Mutation_p.R1444H|AGL_uc001dsn.1_Missense_Mutation_p.R1443H	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1460					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TATTTTCTTCGTGCAAAATTA	0.308													A	100382185	G	A	100382185	3	1	186	1	0	0	0	0	1	0	0	0	384	1145	40	1	4574	1	AGL	1	100382185	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	99106710	100382185	148868436	2	12875											
DENND2C	163259	broad.mit.edu	37	1	115143493	115143493	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:115143493G>A	uc001efd.1	-	13	2606	c.1904C>T	c.(1903-1905)gCt>gTt	p.A635V	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.A578V	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	635	DENN.							p.R635H(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGTCCAGGAGCTGGGAAAGG	0.448													A	115143493	G	A	115143493	3	1	186	1	0	0	0	0	1	0	0	0	4430	971	34	3	914	3	DENND2C	1	115143493	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	14761308	115143493	134107128	3	12876											
SPAG17	200162	broad.mit.edu	37	1	118598400	118598400	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:118598400T>A	uc001ehk.2	-	18	2746	c.2678A>T	c.(2677-2679)aAa>aTa	p.K893I	SPAG17_uc021oss.1_Intron	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	893						cilium|flagellar axoneme|microtubule				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)		AGAAGTAAGTTTGGCATTAGC	0.323													A	118598400	T	A	118598400	3	1	186	1	0	0	0	0	1	0	0	0	14979	1841	64	5	4113	5	SPAG17	1	118598400	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	3454907	118598400	130652221	4	12877											
FLG	2312	broad.mit.edu	37	1	152276824	152276824	+	Missense_Mutation	SNP	G	G	A	rs143278829	by1000genomes	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152276824G>A	uc001ezu.1	-	2	10574	c.10538C>T	c.(10537-10539)gCg>gTg	p.A3513V		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3513	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A3513A(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)			AGAGCTGTCCGCCTGAGTGGA	0.562									Ichthyosis				A	152276824	G	A	152276824	3	1	186	1	0	0	0	0	1	0	0	0	5922	1087	38	1	1651	1	FLG	1	152276824	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	33678424	152276824	96973797	5	12878											
FLG	2312	broad.mit.edu	37	1	152286487	152286487	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152286487C>T	uc001ezu.1	-	2	911	c.875G>A	c.(874-876)cGt>cAt	p.R292H	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	292	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GGATCCCCTACGCTTTCTTGT	0.502									Ichthyosis				T	152286487	C	T	152286487	3	4	186	1	0	0	0	0	1	0	0	0	5922	536	19	1	11314	1	FLG	1	152286487	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	9663	152286487	96964134	6	12879											
CRNN	49860	broad.mit.edu	37	1	152382849	152382849	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152382849C>A	uc001ezx.2	-	2	783	c.709G>T	c.(709-711)Ggt>Tgt	p.G237C		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	237	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTGGCACCTGCCTGGGTC	0.582													A	152382849	C	A	152382849	3	1	186	1	0	0	0	0	1	0	0	0	3892	681	24	5	782	5	CRNN	1	152382849	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	96362	152382849	96867772	7	12880											
CACNA1E	777	broad.mit.edu	37	1	181549749	181549749	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:181549749A>T	uc009wxt.3	+	5	983	c.788A>T	c.(787-789)gAc>gTc	p.D263V	CACNA1E_uc001gow.3_Missense_Mutation_p.D263V|CACNA1E_uc009wxs.3_Missense_Mutation_p.D263V|CACNA1E_uc009wxr.3_Missense_Mutation_p.D170V	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCAC	0.507													T	181549749	A	T	181549749	3	4	186	1	0	0	0	0	1	0	0	0	2542	275	10	5	810	5	CACNA1E	1	181549749	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	29166900	181549749	67700872	8	12881											
LHCGR	3973	broad.mit.edu	37	2	48958384	48958384	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:48958384A>T	uc002rwu.4	-	1	285	c.215T>A	c.(214-216)cTt>cAt	p.L72H	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	72					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GACCTCATTAAGTCCTCTGAA	0.338													T	48958384	A	T	48958384	3	4	186	1	0	0	0	0	1	0	0	0	8762	72	3	5	1924	5	LHCGR	2	48958384	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08		48958384	194240989	9	12882											
TSGA10	80705	broad.mit.edu	37	2	99636771	99636771	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:99636771C>T	uc002szg.4	-	15	2417	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	TSGA10_uc002szh.4_Missense_Mutation_p.E597K|TSGA10_uc002szi.4_Missense_Mutation_p.E597K|TSGA10_uc010fin.1_Missense_Mutation_p.E597K	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	597	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CAAAGGTGTTCTTTAAGAAGC	0.323													T	99636771	C	T	99636771	3	4	186	1	0	0	0	0	1	0	0	0	16614	922	32	3	323	3	TSGA10	2	99636771	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	50678387	99636771	143562602	10	12883											
GPD2	2820	broad.mit.edu	37	2	157439407	157439407	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:157439407G>A	uc002tzf.4	+	16	2521	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N	GPD2_uc010zch.2_Missense_Mutation_p.D494N|GPD2_uc002tzd.4_Missense_Mutation_p.D721N|GPD2_uc002tze.1_Non-coding_Transcript|GPD2_uc021vrl.1_5'Flank	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	721					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AATTCCAGTGGACCGTAGTTG	0.443													A	157439407	G	A	157439407	3	1	186	1	0	0	0	0	1	0	0	0	6606	1174	41	3	2223	3	GPD2	2	157439407	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	57802636	157439407	85759966	11	12884											
XIRP2	129446	broad.mit.edu	37	2	168098387	168098387	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:168098387C>T	uc002udx.3	+	7	1232	c.1143C>T	c.(1141-1143)gaC>gaT	p.D381D	XIRP2_uc010fpn.3_Silent_p.D414D|XIRP2_uc010fpo.3_Silent_p.D381D|XIRP2_uc002udy.3_Silent_p.D206D|XIRP2_uc010fpq.3_Silent_p.D159D|XIRP2_uc010fpr.3_Silent_p.D159D	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	206					actin cytoskeleton organization	cell junction	actin binding			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						TTTATTCTGACAAAGAGATGA	0.368													T	168098387	C	T	168098387	2	4	186	1	0	0	0	0	0	0	0	1	17427	477	17	3		3	XIRP2	2	168098387	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	10658980	168098387	75100986	12	12885											
ALS2CR8	79800	broad.mit.edu	37	2	203846966	203846966	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:203846966T>C	uc002uzo.2	+	14	2141	c.1861T>C	c.(1861-1863)Tgc>Cgc	p.C621R	ALS2CR8_uc010zia.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zib.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zic.1_Missense_Mutation_p.C533R|ALS2CR8_uc002uzp.2_Missense_Mutation_p.C621R	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	621										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						AAGAGATACATGCTTAACCCA	0.418													C	203846966	T	C	203846966	3	2	186	1	0	0	0	0	1	0	0	0	555	1464	51	4	1911	4	ALS2CR8	2	203846966	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	35748579	203846966	39352407	13	12886											
EPHA4	2043	broad.mit.edu	37	2	222428934	222428934	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:222428934C>T	uc002vmq.3	-	2	382	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	EPHA4_uc002vmr.2_Missense_Mutation_p.V114I|EPHA4_uc010zlm.1_Missense_Mutation_p.V55I	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	114						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTCCCCATGACGCCCGGAAGA	0.453													T	222428934	C	T	222428934	3	4	186	1	0	0	0	0	1	0	0	0	5169	536	19	1	2680	1	EPHA4	2	222428934	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	18581968	222428934	20770439	14	12887											
RPL32	6161	broad.mit.edu	37	3	12881707	12881707	+	Silent	SNP	G	G	A	rs144517633		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:12881707G>A	uc003bxl.3	-	0	243	c.30C>T	c.(28-30)ccC>ccT	p.P10P	RPL32_uc003bxm.3_Silent_p.P10P|RPL32_uc003bxn.3_Silent_p.P10P	NM_001007074	NP_001007075	P62910	RL32_HUMAN	Homo sapiens ribosomal protein L32 (RPL32), transcript variant 3, mRNA.	10					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGACGATCTTGGGCTTCACAA	0.537													A	12881707	G	A	12881707	2	1	186	1	0	0	0	0	0	0	0	1	13582	1335	47	3		3	RPL32	3	12881707	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08		12881707	185140723	15	12888											
CELSR3	1951	broad.mit.edu	37	3	48697393	48697393	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:48697393C>T	uc003cuf.1	-	2	2885	c.2885G>A	c.(2884-2886)cGt>cAt	p.R962H	CELSR3_uc003cul.3_Missense_Mutation_p.R892H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	892	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGGTGATACGAGCATTCTC	0.517													T	48697393	C	T	48697393	3	4	186	1	0	0	0	0	1	0	0	0	3223	536	19	1	7403	1	CELSR3	3	48697393	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	35815686	48697393	149325037	16	12889											
MYH15	22989	broad.mit.edu	37	3	108189636	108189636	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:108189636A>G	uc003dxa.1	-	13	1409	c.1352T>C	c.(1351-1353)cTa>cCa	p.L451P		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	451	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCGTGCCACTAGCCACTTAAA	0.458													G	108189636	A	G	108189636	3	3	186	1	0	0	0	0	1	0	0	0	10034	420	15	4	4604	4	MYH15	3	108189636	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	59492243	108189636	89832794	17	12890											
PHLDB2	90102	broad.mit.edu	37	3	111604066	111604066	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:111604066G>A	uc010hqa.3	+	1	1553	c.1142G>A	c.(1141-1143)aGg>aAg	p.R381K	PHLDB2_uc003dyc.3_Missense_Mutation_p.R408K|PHLDB2_uc003dyd.3_Missense_Mutation_p.R381K|PHLDB2_uc003dyg.3_Missense_Mutation_p.R381K|PHLDB2_uc003dyh.3_Missense_Mutation_p.R381K|PHLDB2_uc003dye.4_Missense_Mutation_p.R381K|PHLDB2_uc003dyf.4_Missense_Mutation_p.R381K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	381						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCGACCAGGAGGAACTTCTCT	0.517													A	111604066	G	A	111604066	3	1	186	1	0	0	0	0	1	0	0	0	11852	1000	35	3	1229	3	PHLDB2	3	111604066	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	3414430	111604066	86418364	18	12891											
EPHB1	2047	broad.mit.edu	37	3	134920351	134920351	+	Silent	SNP	G	G	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:134920351G>T	uc003eqt.3	+	11	2541	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	EPHB1_uc003equ.3_Silent_p.V283V	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	722	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCCAGCTTGTGGGTATGCTCA	0.507													T	134920351	G	T	134920351	2	4	186	1	0	0	0	0	0	0	0	1	5174	1335	47	5		5	EPHB1	3	134920351	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	23316285	134920351	63102079	19	12892											
PRR23C	389152	broad.mit.edu	37	3	138763141	138763141	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:138763141C>T	uc011bmt.1	-	0	594	c.322G>A	c.(322-324)Gtc>Atc	p.V108I		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	108										breast(2)|lung(7)|skin(2)	11						CATTCGTCGACGGAGCTCAGG	0.642													T	138763141	C	T	138763141	3	4	186	1	0	0	0	0	1	0	0	0	12596	536	19	1	470	1	PRR23C	3	138763141	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	3842790	138763141	59259289	20	12893											
MBNL1	4154	broad.mit.edu	37	3	152018056	152018056	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:152018056G>A	uc003ezm.3	+	0	863	c.74G>A	c.(73-75)gGg>gAg	p.G25E	MBNL1_uc003ezh.3_Missense_Mutation_p.G25E|MBNL1_uc003ezi.3_Missense_Mutation_p.G25E|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezl.3_Missense_Mutation_p.G25E|MBNL1_uc003ezp.3_Missense_Mutation_p.G25E|MBNL1_uc003ezn.3_Missense_Mutation_p.G25E|MBNL1_uc003ezo.3_Missense_Mutation_p.G25E|MBNL1_uc003ezk.1_Non-coding_Transcript	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	25					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCAGAGGGGGACTTGCTCA	0.428													A	152018056	G	A	152018056	3	1	186	1	0	0	0	0	1	0	0	0	9353	1232	43	3	76	3	MBNL1	3	152018056	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	13254915	152018056	46004374	21	12894											
MBNL1	4154	broad.mit.edu	37	3	152132751	152132751	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:152132751T>A	uc003ezm.3	+	1	985	c.196T>A	c.(196-198)Tgc>Agc	p.C66S	MBNL1_uc003ezh.3_Missense_Mutation_p.C66S|MBNL1_uc003ezi.3_Missense_Mutation_p.C66S|MBNL1_uc003ezj.3_Missense_Mutation_p.C9S|MBNL1_uc003ezl.3_Missense_Mutation_p.C66S|MBNL1_uc003ezp.3_Missense_Mutation_p.C66S|MBNL1_uc003ezn.3_Missense_Mutation_p.C66S|MBNL1_uc003ezo.3_Missense_Mutation_p.C66S|MBNL1_uc010hvp.3_5'UTR	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	66					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAGGGAGAACTGCAAATATCT	0.393													A	152132751	T	A	152132751	3	1	186	1	0	0	0	0	1	0	0	0	9353	1580	55	5	202	5	MBNL1	3	152132751	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	114695	152132751	45889679	22	12895											
ALG3	10195	broad.mit.edu	37	3	183960423	183960423	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:183960423T>G	uc003fne.2	-	8	1227	c.1196A>C	c.(1195-1197)tAc>tCc	p.Y399S	ALG3_uc011brc.1_Missense_Mutation_p.Y364S|ALG3_uc011brd.1_Missense_Mutation_p.Y343S|ALG3_uc011bre.1_Missense_Mutation_p.Y351S	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	399					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGGAAGGGTATGTGTTCCA	0.587													G	183960423	T	G	183960423	3	3	186	1	0	0	0	0	1	0	0	0	520	1638	57	5	124	5	ALG3	3	183960423	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	31827672	183960423	14062007	23	12896											
FRAS1	80144	broad.mit.edu	37	4	79400664	79400664	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:79400664G>A	uc003hlb.2	+	55	8675	c.8235G>A	c.(8233-8235)ggG>ggA	p.G2745G		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2740	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			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						TGATATTCGGGCCTGGTGTGA	0.483													A	79400664	G	A	79400664	2	1	186	1	0	0	0	0	0	0	0	1	6042	1190	42	3		3	FRAS1	4	79400664	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08		79400664	111753612	24	12897											
ENPEP	2028	broad.mit.edu	37	4	111474494	111474494	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:111474494C>T	uc003iab.4	+	17	2867	c.2525C>T	c.(2524-2526)aCg>aTg	p.T842M		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	842					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTCAAGGACACGAACCTTATT	0.353													T	111474494	C	T	111474494	3	4	186	1	0	0	0	0	1	0	0	0	5128	536	19	1	2595	1	ENPEP	4	111474494	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	32073830	111474494	79679782	25	12898											
NR3C2	4306	broad.mit.edu	37	4	149357361	149357361	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:149357361C>T	uc003ilj.4	-	1	1015	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	NR3C2_uc003ilk.4_Missense_Mutation_p.A218T|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	218	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CCAAAGCTGGCTGTGGTGGAG	0.532													T	149357361	C	T	149357361	3	4	186	1	0	0	0	0	1	0	0	0	10631	797	28	3	2334	3	NR3C2	4	149357361	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	37882867	149357361	41796915	26	12899											
SOX30	11063	broad.mit.edu	37	5	157078493	157078493	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr5:157078493G>A	uc003lxb.1	-	0	936	c.594C>T	c.(592-594)ggC>ggT	p.G198G	SOX30_uc003lxc.1_Silent_p.G198G|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	198					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCCCCGCCTTGCATCG	0.657													A	157078493	G	A	157078493	2	1	186	1	0	0	0	0	0	0	0	1	14952	1074	38	1		1	SOX30	5	157078493	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08		157078493	23836767	27	12900											
DDR1	780	broad.mit.edu	37	6	30861171	30861171	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr6:30861171C>T	uc003nrv.3	+	8	1360	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	DDR1_uc010jse.3_Missense_Mutation_p.R440W|DDR1_uc003nrq.3_Missense_Mutation_p.R440W|DDR1_uc003nrr.3_Missense_Mutation_p.R440W|DDR1_uc003nrs.3_Missense_Mutation_p.R440W|DDR1_uc003nrt.3_Missense_Mutation_p.R440W|DDR1_uc011dms.2_Missense_Mutation_p.R458W|DDR1_uc003nru.3_Missense_Mutation_p.R440W|DDR1_uc003nry.2_Missense_Mutation_p.R440W|DDR1_uc003nrx.2_Missense_Mutation_p.R440W|DDR1_uc003nrw.1_Missense_Mutation_p.R239W	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	440					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CATGCTCTGGCGGCTGCACTG	0.697													T	30861171	C	T	30861171	3	4	186	1	0	0	0	0	1	0	0	0	4336	759	27	1	1352	1	DDR1	6	30861171	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		30861171	140253896	28	12901											
THSD7A	221981	broad.mit.edu	37	7	11514021	11514021	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:11514021C>T	uc021zzo.1	-	7	2444	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D	THSD7A_uc021zzn.1_Missense_Mutation_p.G731D	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	731	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTCTGCATGCCGACAGAGCA	0.512										HNSCC(18;0.044)			T	11514021	C	T	11514021	3	4	186	1	0	0	0	0	1	0	0	0	15876	739	26	3	2861	3	THSD7A	7	11514021	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		11514021	147624642	29	12902											
IGF2BP3	10643	broad.mit.edu	37	7	23509595	23509595	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:23509595C>T	uc003swg.3	-	0	401	c.135G>A	c.(133-135)ccG>ccA	p.P45P	IGF2BP3_uc003swh.1_Non-coding_Transcript	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	45	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGCTCTCGTCCGGGCAGTCCA	0.697													T	23509595	C	T	23509595	2	4	186	1	0	0	0	0	0	0	0	1	7575	639	23	2		2	IGF2BP3	7	23509595	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	11995574	23509595	135629068	30	12903											
GNAT3	346562	broad.mit.edu	37	7	80117947	80117947	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:80117947G>A	uc011kgu.2	-	2	207	c.207C>T	c.(205-207)ttC>ttT	p.F69F	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	69					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTACTGCTTTGAACTCCATGC	0.338													A	80117947	G	A	80117947	2	1	186	1	0	0	0	0	0	0	0	1	6513	1281	45	3		3	GNAT3	7	80117947	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	56608352	80117947	79020716	31	12904											
TRRAP	8295	broad.mit.edu	37	7	98554147	98554147	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:98554147C>T	uc003upp.3	+	41	6410	c.6201C>T	c.(6199-6201)gcC>gcT	p.A2067A	TRRAP_uc011kis.2_Silent_p.A2049A|TRRAP_uc003upr.3_Silent_p.A1766A	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2067	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCACCGGAGCCATCAGTGCAG	0.512													T	98554147	C	T	98554147	2	4	186	1	0	0	0	0	0	0	0	1	16598	581	21	3		3	TRRAP	7	98554147	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	18436200	98554147	60584516	32	12905											
TRRAP	8295	broad.mit.edu	37	7	98567836	98567836	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:98567836C>T	uc003upp.3	+	50	7802	c.7593C>T	c.(7591-7593)caC>caT	p.H2531H	TRRAP_uc011kis.2_Silent_p.H2513H|TRRAP_uc003upr.3_Silent_p.H2230H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2531					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCGATAGCCACGACCGTGCCG	0.632													T	98567836	C	T	98567836	2	4	186	1	0	0	0	0	0	0	0	1	16598	535	19	1		1	TRRAP	7	98567836	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	13689	98567836	60570827	33	12906											
CLCN1	1180	broad.mit.edu	37	7	143043325	143043325	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:143043325G>A	uc003wcr.1	+	17	2352	c.2265G>A	c.(2263-2265)ccG>ccA	p.P755P	CLCN1_uc011ktc.1_Silent_p.P367P	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	755					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)					AACAGCAGCCGGAAGCACCAG	0.602													A	143043325	G	A	143043325	2	1	186	1	0	0	0	0	0	0	0	1	3462	1103	39	2		2	CLCN1	7	143043325	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	44475489	143043325	16095338	34	12907											
OR6B1	135946	broad.mit.edu	37	7	143701705	143701705	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:143701705A>G	uc003wdt.1	+	0	616	c.616A>G	c.(616-618)Atc>Gtc	p.I206V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I206I(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGCACTGGTCATCTTCCTATT	0.458													G	143701705	A	G	143701705	3	3	186	1	0	0	0	0	1	0	0	0	11187	217	8	4	618	4	OR6B1	7	143701705	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	658380	143701705	15436958	35	12908											
HR	55806	broad.mit.edu	37	8	21983183	21983183	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr8:21983183G>T	uc003xas.3	-	3	2133	c.1468C>A	c.(1468-1470)Ctc>Atc	p.L490I	HR_uc003xat.3_Missense_Mutation_p.L490I	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	490							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TTTGCAGGGAGAGCCAGGCAT	0.602													T	21983183	G	T	21983183	3	4	186	1	0	0	0	0	1	0	0	0	7347	942	33	5	2165	5	HR	8	21983183	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08		21983183	124380839	36	12909											
CYP11B2	1585	broad.mit.edu	37	8	143994857	143994857	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr8:143994857G>A	uc003yxk.1	-	5	968	c.965C>T	c.(964-966)cCc>cTc	p.P322L		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	322					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P322T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CATCAGCAAGGGAAACGCTGT	0.632									Familial Hyperaldosteronism type I				A	143994857	G	A	143994857	3	1	186	1	0	0	0	0	1	0	0	0	4146	1232	43	3	562	3	CYP11B2	8	143994857	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	122011674	143994857	2369165	37	12910											
IFNB1	3456	broad.mit.edu	37	9	21077465	21077465	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:21077465C>A	uc003zok.3	-	0	479	c.404G>T	c.(403-405)gGa>gTa	p.G135V		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	135					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	CATGAGTTTTCCCCTGGTGAA	0.443													A	21077465	C	A	21077465	3	1	186	1	0	0	0	0	1	0	0	0	7546	855	30	5	163	5	IFNB1	9	21077465	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		21077465	120135966	38	12911											
OR1J4	26219	broad.mit.edu	37	9	125281885	125281885	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:125281885G>A	uc011lyw.2	+	0	466	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTGTACCAATGCCCTGTCTCA	0.517													A	125281885	G	A	125281885	3	1	186	1	0	0	0	0	1	0	0	0	10961	1319	46	3	468	3	OR1J4	9	125281885	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	104204420	125281885	15931546	39	12912											
GTF3C4	9329	broad.mit.edu	37	9	135546145	135546145	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:135546145C>T	uc010mzv.3	+	0	418	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.2_5'Flank|GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	54					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GGTGACTCGGCGGGAGCCGGC	0.736													T	135546145	C	T	135546145	3	4	186	1	0	0	0	0	1	0	0	0	6875	759	27	1	162	1	GTF3C4	9	135546145	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	10264260	135546145	5667286	40	12913											
C9orf116	138162	broad.mit.edu	37	9	138387358	138387358	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:138387358G>A	uc004cft.1	-	2	390	c.326C>T	c.(325-327)aCt>aTt	p.T109I	C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_Non-coding_Transcript	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	Homo sapiens chromosome 9 open reading frame 116 (C9orf116), transcript variant 1, mRNA.	109															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		ATCGGGGCCAGTCACGATGCT	0.478													A	138387358	G	A	138387358	3	1	186	1	0	0	0	0	1	0	0	0	2450	1029	36	3	88	3	C9orf116	9	138387358	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	2841213	138387358	2826073	41	12914											
FAM107B	83641	broad.mit.edu	37	10	14564008	14564008	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:14564008G>C	uc001ina.1	-	3	898	c.664C>G	c.(664-666)Cct>Gct	p.P222A	FAM107B_uc010qbu.1_Non-coding_Transcript|FAM107B_uc001imx.1_Missense_Mutation_p.P47A|FAM107B_uc009xjg.1_Missense_Mutation_p.P47A|FAM107B_uc001imy.1_Missense_Mutation_p.P47A|FAM107B_uc001imz.1_Missense_Mutation_p.P47A	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	47										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGTTCTGAGGAGCAAGACCC	0.358													C	14564008	G	C	14564008	3	2	186	1	0	0	0	0	1	0	0	0	5390	1174	41	5	264	5	FAM107B	10	14564008	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08		14564008	120970739	42	12915											
PARD3	56288	broad.mit.edu	37	10	34663908	34663908	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:34663908C>T	uc010qej.2	-	10	1892	c.1562G>A	c.(1561-1563)gGc>gAc	p.G521D	PARD3_uc010qep.2_Missense_Mutation_p.G477D|PARD3_uc010qeq.2_Missense_Mutation_p.G477D|PARD3_uc010qek.2_Missense_Mutation_p.G521D|PARD3_uc010qel.2_Missense_Mutation_p.G521D|PARD3_uc010qem.2_Missense_Mutation_p.G521D|PARD3_uc010qen.2_Missense_Mutation_p.G521D|PARD3_uc010qeo.2_Missense_Mutation_p.G521D|PARD3_uc001ixo.2_Missense_Mutation_p.G251D|PARD3_uc001ixr.2_Missense_Mutation_p.G521D|PARD3_uc001ixq.2_Missense_Mutation_p.G521D|PARD3_uc001ixp.2_Missense_Mutation_p.G521D|PARD3_uc001ixt.1_Missense_Mutation_p.G342D|PARD3_uc001ixu.2_Missense_Mutation_p.G477D|PARD3_uc001ixs.1_Missense_Mutation_p.G174D	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	521	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGGGATTTGCCCACTAAATC	0.453													T	34663908	C	T	34663908	3	4	186	1	0	0	0	0	1	0	0	0	11443	739	26	3	2603	3	PARD3	10	34663908	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	20099900	34663908	100870839	43	12916											
PTEN	5728	broad.mit.edu	37	10	89720676	89720676	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:89720676A>G	uc001kfb.3	+	7	1859	c.827A>G	c.(826-828)aAt>aGt	p.N276S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	276	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.V275fs*1(5)|p.R55fs*1(5)|p.N276fs*15(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.N276K(1)|p.V275L(1)|p.V275A(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTGGGTAAATACATTCTTC	0.279		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89720676	A	G	89720676	3	3	186	1	0	0	0	0	1	0	0	0	12738	101	4	4	857	4	PTEN	10	89720676	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	55056768	89720676	45814071	44	12917											
DNMBP	23268	broad.mit.edu	37	10	101715528	101715528	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:101715528G>C	uc001kqj.2	-	3	1795	c.1703C>G	c.(1702-1704)aCa>aGa	p.T568R	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	568					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCTGGCTCTGTGCCGGGCCC	0.498													C	101715528	G	C	101715528	3	2	186	1	0	0	0	0	1	0	0	0	4674	1377	48	5	3086	5	DNMBP	10	101715528	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	11994852	101715528	33819219	45	12918											
NELL1	4745	broad.mit.edu	37	11	21135236	21135236	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:21135236C>T	uc009yid.3	+	13	1639	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	NELL1_uc010rdp.2_Missense_Mutation_p.R228C|NELL1_uc001mqe.3_Missense_Mutation_p.R468C|NELL1_uc001mqf.3_Missense_Mutation_p.R468C|NELL1_uc010rdo.2_Missense_Mutation_p.R411C	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	468	EGF-like 3.				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						AGGATACATTCGTGTGGATGA	0.403													T	21135236	C	T	21135236	3	4	186	1	0	0	0	0	1	0	0	0	10333	884	31	2	1452	2	NELL1	11	21135236	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		21135236	113871280	46	12919											
OR5M8	219484	broad.mit.edu	37	11	56258155	56258155	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:56258155T>A	uc001nix.1	-	0	692	c.692A>T	c.(691-693)gAg>gTg	p.E231V	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGCCTGCCCTCTGTAGAGCG	0.413													A	56258155	T	A	56258155	3	1	186	1	0	0	0	0	1	0	0	0	11176	1551	54	5	247	5	OR5M8	11	56258155	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	35122919	56258155	78748361	47	12920											
MS4A4A	51338	broad.mit.edu	37	11	60075609	60075609	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:60075609C>T	uc001noz.3	+	6	813	c.678C>T	c.(676-678)caC>caT	p.H226H	MS4A4A_uc001npa.3_Silent_p.H207H|MS4A4A_uc001npc.3_Silent_p.H173H	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	226						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CACATTCTCACATGGCAGAAA	0.458													T	60075609	C	T	60075609	2	4	186	1	0	0	0	0	0	0	0	1	9862	477	17	3		3	MS4A4A	11	60075609	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	3817454	60075609	74930907	48	12921											
CCDC87	55231	broad.mit.edu	37	11	66359836	66359836	+	Silent	SNP	G	G	A	rs17853294		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:66359836G>A	uc001oiq.4	-	0	719	c.651C>T	c.(649-651)ttC>ttT	p.F217F	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	217			F -> L (in dbSNP:rs17853294).							central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCACTTGGGCGAAGCCAGTGC	0.592													A	66359836	G	A	66359836	2	1	186	1	0	0	0	0	0	0	0	1	2862	1049	37	2		2	CCDC87	11	66359836	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	6284227	66359836	68646680	49	12922											
CNTN5	53942	broad.mit.edu	37	11	99827702	99827703	+	Frame_Shift_Ins	INS	-	-	TCCTTAGTCC			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:99827702_99827703insTCCTTAGTCC	uc001pga.3	+	7	1342_1343	c.838_839insTCCTTAGTCC	c.(838-840)gtcfs	p.V280fs	CNTN5_uc009ywv.2_Frame_Shift_Ins_p.V280fs|CNTN5_uc001pfz.3_Frame_Shift_Ins_p.V280fs|CNTN5_uc021qpb.1_Frame_Shift_Ins_p.V280fs|CNTN5_uc021qpc.1_Frame_Shift_Ins_p.V206fs	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	280	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAATGCTAGAGTCCTTAGTCCT	0.416													TCCTTAGTCC	99827703	-	TCCTTAGTCC	99827702	7	5	186	1	0	1	1	0	0	0	0	0	3644	1029	36	0	860	0	CNTN5	11	99827702	Frame_Shift_Ins	INS	-	TCGA-27-1834-01A-01W-0643-08	33467866	99827702	35178814	50	12923											
OPCML	4978	broad.mit.edu	37	11	132527102	132527102	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:132527102T>A	uc010sck.2	-	1	330	c.280A>T	c.(280-282)Aca>Tca	p.T94S	OPCML_uc001qgu.3_Missense_Mutation_p.T87S|OPCML_uc001qgs.3_Missense_Mutation_p.T94S|OPCML_uc001qgt.3_Missense_Mutation_p.T94S|OPCML_uc010scl.2_Missense_Mutation_p.T53S	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	94	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGGGTTGGTGTATTGACCAGG	0.532													A	132527102	T	A	132527102	3	1	186	1	0	0	0	0	1	0	0	0	10874	1638	57	5	781	5	OPCML	11	132527102	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	32699400	132527102	2479414	51	12924											
MVK	4598	broad.mit.edu	37	12	110023885	110023885	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr12:110023885A>G	uc001toy.4	+	5	770	c.586A>G	c.(586-588)Att>Gtt	p.I196V	MVK_uc009zvk.3_Missense_Mutation_p.I196V|MVK_uc010sxr.2_Missense_Mutation_p.I144V|MVK_uc001toz.4_Missense_Mutation_p.I2V|MVK_uc021rdo.1_Missense_Mutation_p.I196V|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	196					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGAGAGAATGATTCACGGGAA	0.453													G	110023885	A	G	110023885	3	3	186	1	0	0	0	0	1	0	0	0	9995	333	12	4	604	4	MVK	12	110023885	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08		110023885	23828010	52	12925											
FZD10	11211	broad.mit.edu	37	12	130647861	130647861	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr12:130647861A>T	uc001uii.3	+	0	858	c.374A>T	c.(373-375)aAc>aTc	p.N125I	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	125	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GAGCAGTTCAACTTCAAGTGG	0.642													T	130647861	A	T	130647861	3	4	186	1	0	0	0	0	1	0	0	0	6129	43	2	5	376	5	FZD10	12	130647861	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	20623976	130647861	3204034	53	12926											
OLFM4	10562	broad.mit.edu	37	13	53624555	53624555	+	Silent	SNP	T	T	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr13:53624555T>A	uc001vhl.3	+	4	1278	c.1182T>A	c.(1180-1182)gtT>gtA	p.V394V	OLFM4_uc001vhk.2_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	394	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GATTGTGGGTTATTTATTCAA	0.398													A	53624555	T	A	53624555	2	1	186	1	0	0	0	0	0	0	0	1	10855	1741	61	5		5	OLFM4	13	53624555	Silent	SNP	T	TCGA-27-1834-01A-01W-0643-08		53624555	61545323	54	12927											
OR10G2	26534	broad.mit.edu	37	14	22102705	22102705	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:22102705C>T	uc010tmc.2	-	0	294	c.294G>A	c.(292-294)ccG>ccA	p.P98P		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		AGCCACCAAACGGGATAGCCT	0.493													T	22102705	C	T	22102705	2	4	186	1	0	0	0	0	0	0	0	1	10899	523	19	1		1	OR10G2	14	22102705	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08		22102705	85246835	55	12928											
FOXA1	3169	broad.mit.edu	37	14	38060669	38060669	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:38060669G>A	uc001wuf.3	-	1	1632	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	FOXA1_uc010tpz.2_Silent_p.G407G	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	440					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)		CCGAGGCGCTGCCTAGAGGCA	0.607													A	38060669	G	A	38060669	2	1	186	1	0	0	0	0	0	0	0	1	5989	1306	46	3		3	FOXA1	14	38060669	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	15957964	38060669	69288871	56	12929											
ZNF839	55778	broad.mit.edu	37	14	102792551	102792551	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:102792551C>T	uc010awk.1	+	1	525	c.518C>T	c.(517-519)cCt>cTt	p.P173L	ZNF839_uc001ylo.2_Missense_Mutation_p.P57L|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Missense_Mutation_p.P57L|ZNF839_uc001ylr.2_Missense_Mutation_p.P57L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	57						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGCCAACCTCCTGCTCAGGGG	0.597													T	102792551	C	T	102792551	3	4	186	1	0	0	0	0	1	0	0	0	18185	681	24	3	524	3	ZNF839	14	102792551	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	64731882	102792551	4556989	57	12930											
ANKS4B	257629	broad.mit.edu	37	16	21261689	21261689	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:21261689C>T	uc010bwp.1	+	1	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	268										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CATTCTCAATCGTCCAGGTCT	0.468													T	21261689	C	T	21261689	3	4	186	1	0	0	0	0	1	0	0	0	691	884	31	2	808	2	ANKS4B	16	21261689	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		21261689	69093064	58	12931											
PRKCB	5579	broad.mit.edu	37	16	24185839	24185839	+	Silent	SNP	A	A	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:24185839A>T	uc002dmd.3	+	12	1529	c.1332_splice	c.e12-1	p.V444_splice	PRKCB_uc002dme.3_Splice_Site_p.V444_splice	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	444	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTAATTTCAGATTTTACGCTG	0.383													T	24185839	A	T	24185839	2	4	186	1	0	0	0	0	0	0	0	1	12508	347	12	5		5	PRKCB	16	24185839	Silent	SNP	A	TCGA-27-1834-01A-01W-0643-08	2924150	24185839	66168914	59	12932											
CHD9	80205	broad.mit.edu	37	16	53337839	53337839	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:53337839C>T	uc002ehb.3	+	29	6085	c.5921C>T	c.(5920-5922)gCt>gTt	p.A1974V	CHD9_uc002egy.3_Missense_Mutation_p.A1974V|CHD9_uc002ehc.3_Missense_Mutation_p.A1974V|CHD9_uc002ehf.3_Missense_Mutation_p.A1088V|CHD9_uc002ehg.2_Missense_Mutation_p.A1088V|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1974					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTTATTGGTGCTGCCAAACAC	0.468													T	53337839	C	T	53337839	3	4	186	1	0	0	0	0	1	0	0	0	3332	797	28	3	6039	3	CHD9	16	53337839	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	29152000	53337839	37016914	60	12933											
SEZ6	124925	broad.mit.edu	37	17	27308674	27308674	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:27308674G>A	uc002hdp.2	-	1	633	c.439C>T	c.(439-441)Cct>Tct	p.P147S	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.P147S|SEZ6_uc002hdq.1_Missense_Mutation_p.P22S|SEZ6_uc010crz.1_Missense_Mutation_p.P147S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	147	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGAAGCATAGGGGACTCTGAC	0.652													A	27308674	G	A	27308674	3	1	186	1	0	0	0	0	1	0	0	0	14142	1232	43	3	2622	3	SEZ6	17	27308674	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08		27308674	53886536	61	12934											
PPM1D	8493	broad.mit.edu	37	17	58678099	58678099	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:58678099C>T	uc002iyt.2	+	0	556	c.324C>T	c.(322-324)ggC>ggT	p.G108G	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	108	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACGGGCACGGCGGGCGGGAGG	0.692													T	58678099	C	T	58678099	2	4	186	1	0	0	0	0	0	0	0	1	12337	755	27	1		1	PPM1D	17	58678099	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	31369425	58678099	22517111	62	12935											
SLC39A11	201266	broad.mit.edu	37	17	70644980	70644980	+	Silent	SNP	G	G	A	rs146713017		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:70644980G>A	uc002jjb.3	-	8	1027	c.912C>T	c.(910-912)taC>taT	p.Y304Y	SLC39A11_uc002jja.3_Silent_p.Y297Y	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA.	304					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCATGACCACGTAGACCATGG	0.642													A	70644980	G	A	70644980	2	1	186	1	0	0	0	0	0	0	0	1	14614	1140	40	1		1	SLC39A11	17	70644980	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	11966881	70644980	10550230	63	12936											
TBC1D16	125058	broad.mit.edu	37	17	77915925	77915925	+	Silent	SNP	C	C	T	rs149251119	byFrequency	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:77915925C>T	uc002jxj.3	-	10	2105	c.1989G>A	c.(1987-1989)acG>acA	p.T663T	TBC1D16_uc002jxh.3_Silent_p.T301T|TBC1D16_uc002jxi.3_Silent_p.T288T	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	663						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCATCTGGTCCGTGGCCAGCT	0.622													T	77915925	C	T	77915925	2	4	186	1	0	0	0	0	0	0	0	1	15602	639	23	2		2	TBC1D16	17	77915925	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	7270945	77915925	3279285	64	12937											
CYP2A13	1553	broad.mit.edu	37	19	41597775	41597775	+	Missense_Mutation	SNP	C	C	T	rs143140637		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr19:41597775C>T	uc002opt.3	+	4	802	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	265					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CAATTCCCCACGGGACTTCAT	0.582													T	41597775	C	T	41597775	3	4	186	1	0	0	0	0	1	0	0	0	4161	527	19	1	811	1	CYP2A13	19	41597775	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		41597775	17531208	65	12938											
HAO1	54363	broad.mit.edu	37	20	7915230	7915230	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr20:7915230T>G	uc002wmw.1	-	1	214	c.190A>C	c.(190-192)Act>Cct	p.T64P	HAO1_uc010gbu.3_Missense_Mutation_p.T64P	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	64	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAAACAGAAGTCGACAGATCT	0.458													G	7915230	T	G	7915230	3	3	186	1	0	0	0	0	1	0	0	0	6951	1667	58	5	950	5	HAO1	20	7915230	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08		7915230	55110290	66	12939											
CSTF1	1477	broad.mit.edu	37	20	54978729	54978729	+	Silent	SNP	G	G	A			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr20:54978729G>A	uc002xxl.1	+	5	1442	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	CSTF1_uc002xxm.1_Silent_p.T414T|CSTF1_uc002xxn.1_Silent_p.T414T	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	414					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GGTTCATGACGTGCAGCGATG	0.587													A	54978729	G	A	54978729	2	1	186	1	0	0	0	0	0	0	0	1	3983	1132	40	1		1	CSTF1	20	54978729	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	47063499	54978729	8046791	67	12940											
COL6A2	1292	broad.mit.edu	37	21	47545941	47545941	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr21:47545941C>T	uc002zia.1	+	25	2294	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	COL6A2_uc002zhz.1_Missense_Mutation_p.R738W|COL6A2_uc002zhy.1_Missense_Mutation_p.R738W|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	738	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.R738W(4)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCACGACCCTCGGGACGATGA	0.622													T	47545941	C	T	47545941	3	4	186	1	0	0	0	0	1	0	0	0	3700	875	31	2	2310	2	COL6A2	21	47545941	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		47545941	583954	68	12941											
CSF2RA	1438	broad.mit.edu	37	X	1407665	1407665	+	Silent	SNP	C	C	T			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chrX:1407665C>T	uc010nct.2	+	6	679	c.357C>T	c.(355-357)acC>acT	p.T119T	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.T119T|CSF2RA_uc004cpq.2_Silent_p.T119T|CSF2RA_uc004cpn.2_Silent_p.T119T|CSF2RA_uc004cpo.2_Silent_p.T119T|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.T119T|CSF2RA_uc010ncv.2_Silent_p.T119T|CSF2RA_uc004cpr.2_Silent_p.T119T	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	119						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	GGGAGGGTACCGCTGCTCAGA	0.517													T	1407665	C	T	1407665	2	4	186	1	0	0	0	0	0	0	0	1	3934	639	23	2		2	CSF2RA	23	1407665	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08		1407665	153862895	69	12942											
PLEKHO1	51177	broad.mit.edu	37	1	150131552	150131552	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:150131552C>T	uc001ett.3	+	5	1342	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	PLEKHO1_uc001ets.3_Missense_Mutation_p.T172M|PLEKHO1_uc001etu.3_Missense_Mutation_p.T183M|PLEKHO1_uc021oyc.1_Missense_Mutation_p.T172M	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	355	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCTGGAGACGGAACGGCTG	0.607													T	150131552	C	T	150131552	3	4	187	1	0	0	0	0	1	0	0	0	12084	536	19	1	1086	1	PLEKHO1	1	150131552	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		150131552	99119069	1	12943											
NUP210L	91181	broad.mit.edu	37	1	154110601	154110601	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:154110601C>A	uc001fdw.3	-	5	903	c.831G>T	c.(829-831)atG>atT	p.M277I	NUP210L_uc009woq.3_5'Flank|NUP210L_uc010peh.2_Missense_Mutation_p.M277I	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	277						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCCCTTGAACCATTTTTGCAA	0.343													A	154110601	C	A	154110601	3	1	187	1	0	0	0	0	1	0	0	0	10761	594	21	5	4975	5	NUP210L	1	154110601	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	3979049	154110601	95140020	2	12944											
SPTA1	6708	broad.mit.edu	37	1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:158626393G>C	uc001fst.1	-	19	3058	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	953					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D953E(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCATACTGTCTCCAAATG	0.413													C	158626393	G	C	158626393	3	2	187	1	0	0	0	0	1	0	0	0	15115	1368	48	5	4532	5	SPTA1	1	158626393	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	4515792	158626393	90624228	3	12945											
SPTA1	6708	broad.mit.edu	37	1	158632602	158632602	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:158632602C>T	uc001fst.1	-	16	2553	c.2354G>A	c.(2353-2355)cGa>cAa	p.R785Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	785					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCTTCTTTCGGGTGGCCAG	0.478													T	158632602	C	T	158632602	3	4	187	1	0	0	0	0	1	0	0	0	15115	884	31	2	5049	2	SPTA1	1	158632602	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	6209	158632602	90618019	4	12946											
LAMB3	3914	broad.mit.edu	37	1	209804029	209804029	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:209804029G>A	uc001hhg.3	-	7	1264	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	LAMB3_uc009xco.3_Missense_Mutation_p.R292C|LAMB3_uc001hhh.3_Missense_Mutation_p.R292C|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.R228C	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	292	Laminin EGF-like 1.		R -> L (in dbSNP:rs12091253).		cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTGCACAGCGCTCACAATTT	0.597													A	209804029	G	A	209804029	3	1	187	1	0	0	0	0	1	0	0	0	8612	1087	38	1	2704	1	LAMB3	1	209804029	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	51171427	209804029	39446592	5	12947											
SIPA1L2	57568	broad.mit.edu	37	1	232615447	232615447	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:232615447T>C	uc001hvg.3	-	4	2169	c.2011A>G	c.(2011-2013)Acc>Gcc	p.T671A		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	671	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGTATGTGGTATAGAGAGAG	0.448													C	232615447	T	C	232615447	3	2	187	1	0	0	0	0	1	0	0	0	14330	1638	57	4	3225	4	SIPA1L2	1	232615447	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	22811418	232615447	16635174	6	12948											
KIAA1804	84451	broad.mit.edu	37	1	233515030	233515030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:233515030C>T	uc001hvt.4	+	8	2539	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	KIAA1804_uc001hvu.4_Nonsense_Mutation_p.R206*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	760					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GAAGAAGAAACGAGAGGGAAT	0.602													T	233515030	C	T	233515030	4	4	187	1	0	0	0	0	0	1	0	0	8259	528	19	1	2312	1	KIAA1804	1	233515030	Nonsense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	899583	233515030	15735591	7	12949											
OR2M4	26245	broad.mit.edu	37	1	248402638	248402638	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:248402638G>T	uc010pzh.2	+	0	408	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			CCATCCTCATGAATCCGAAAC	0.473													T	248402638	G	T	248402638	3	4	187	1	0	0	0	0	1	0	0	0	11012	1290	45	5	410	5	OR2M4	1	248402638	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	14887608	248402638	847983	8	12950											
IFT172	26160	broad.mit.edu	37	2	27670769	27670769	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:27670769C>A	uc002rku.3	-	40	4500	c.4449G>T	c.(4447-4449)agG>agT	p.R1483S	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1483					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTGAAGATCCTTTTGTAGA	0.502													A	27670769	C	A	27670769	3	1	187	1	0	0	0	0	1	0	0	0	7557	854	30	5	832	5	IFT172	2	27670769	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		27670769	215528604	9	12951											
CAPN13	92291	broad.mit.edu	37	2	30959413	30959413	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:30959413G>T	uc021vfn.1	-	16	1710	c.1678C>A	c.(1678-1680)Caa>Aaa	p.Q560K	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.Q556K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	560	EF-hand 1.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AACTCCTCTTGGTCTAGCCGC	0.537													T	30959413	G	T	30959413	3	4	187	1	0	0	0	0	1	0	0	0	2626	1357	47	5	351	5	CAPN13	2	30959413	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	3288644	30959413	212239960	10	12952											
FAM82A1	151393	broad.mit.edu	37	2	38202445	38202445	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:38202445T>C	uc002rqn.2	+	3	1378	c.1252T>C	c.(1252-1254)Tat>Cat	p.Y418H	FAM82A1_uc002rqk.1_Missense_Mutation_p.Y95H|FAM82A1_uc002rql.3_Missense_Mutation_p.Y240H|FAM82A1_uc021vga.1_Missense_Mutation_p.Y240H|FAM82A1_uc002rqm.3_Missense_Mutation_p.Y95H	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	240						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						AAAGAAACATTATGCTAATAT	0.323													C	38202445	T	C	38202445	3	2	187	1	0	0	0	0	1	0	0	0	5630	1754	61	4	1722	4	FAM82A1	2	38202445	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	7243032	38202445	204996928	11	12953											
SULT1C4	27233	broad.mit.edu	37	2	108999906	108999906	+	Silent	SNP	A	A	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:108999906A>T	uc002tea.1	+	4	928	c.555A>T	c.(553-555)ggA>ggT	p.G185G	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Silent_p.G110G	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	185					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATGTGAAAGGATGGTGGGAAG	0.478													T	108999906	A	T	108999906	2	4	187	1	0	0	0	0	0	0	0	1	15376	320	12	5		5	SULT1C4	2	108999906	Silent	SNP	A	TCGA-27-1835-01A-01D-1494-08	70797461	108999906	134199467	12	12954											
RPRM	56475	broad.mit.edu	37	2	154334770	154334770	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:154334770C>T	uc002tyq.1	-	0	553	c.310G>A	c.(310-312)Gtg>Atg	p.V104M		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	Homo sapiens reprimo, TP53 dependent G2 arrest mediator candidate (RPRM), mRNA.	104					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						CCCACGACCACCGCCTCCACC	0.637													T	154334770	C	T	154334770	3	4	187	1	0	0	0	0	1	0	0	0	13618	507	18	3	23	3	RPRM	2	154334770	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	45334864	154334770	88864603	13	12955											
STAT4	6775	broad.mit.edu	37	2	192011451	192011451	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:192011451G>A	uc002usm.2	-	2	476	c.161C>T	c.(160-162)aCg>aTg	p.T54M	STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Missense_Mutation_p.T54M|STAT4_uc002uso.2_Missense_Mutation_p.T54M|STAT4_uc002usp.4_Missense_Mutation_p.T54M|STAT4_uc010zgl.2_Missense_Mutation_p.T54M	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	54					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGAAGAATCGTTGCCATGGT	0.323													A	192011451	G	A	192011451	3	1	187	1	0	0	0	0	1	0	0	0	15266	1145	40	1	2173	1	STAT4	2	192011451	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	37676681	192011451	51187922	14	12956											
CD28	940	broad.mit.edu	37	2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:204599561C>T	uc002vah.4	+	3	811	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_uc010zio.2_Missense_Mutation_p.R100C|CD28_uc010ftx.3_Missense_Mutation_p.R78C|CD28_uc002vaj.4_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	197					cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597													T	204599561	C	T	204599561	3	4	187	1	0	0	0	0	1	0	0	0	2993	652	23	2	603	2	CD28	2	204599561	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	12588110	204599561	38599812	15	12957											
SNRK	54861	broad.mit.edu	37	3	43381834	43381834	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr3:43381834A>C	uc003cms.4	+	4	1119	c.787A>C	c.(787-789)Att>Ctt	p.I263L	SNRK_uc003cmt.4_Missense_Mutation_p.I263L|SNRK_uc010hik.3_Missense_Mutation_p.I263L|SNRK_uc011azr.2_Missense_Mutation_p.I57L	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	263	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTTAGAAGAGATTGAAAATCA	0.443													C	43381834	A	C	43381834	3	2	187	1	0	0	0	0	1	0	0	0	14851	333	12	5	797	5	SNRK	3	43381834	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08		43381834	154640596	16	12958											
LETM1	3954	broad.mit.edu	37	4	1818642	1818642	+	Splice_Site	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:1818642C>T	uc003gdv.3	-	12	2041	c.1744_splice	c.e12-1	p.D582_splice		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	582					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCTGCAAGTCCTAATAAAATT	0.408													T	1818642	C	T	1818642	5	4	187	1	0	0	0	0	0	0	1	0	8734	695	24	3	488	3	LETM1	4	1818642	Splice_Site	SNP	C	TCGA-27-1835-01A-01D-1494-08		1818642	189335634	17	12959											
WHSC1	7468	broad.mit.edu	37	4	1978378	1978378	+	Silent	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:1978378C>A	uc003gdz.4	+	20	3974	c.3798C>A	c.(3796-3798)tcC>tcA	p.S1266S	WHSC1_uc003geb.4_Silent_p.S1266S|WHSC1_uc003gec.4_Silent_p.S1266S|WHSC1_uc003ged.4_Silent_p.S1266S|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Silent_p.S485S|WHSC1_uc011bvh.2_Silent_p.S327S|WHSC1_uc010icf.3_Silent_p.S614S	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	1266					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACCACCTGTCCTGCCTGGGCC	0.657			T	IGH@	MM								A	1978378	C	A	1978378	2	1	187	1	0	0	0	0	0	0	0	1	17359	668	24	5		5	WHSC1	4	1978378	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	159736	1978378	189175898	18	12960											
FAM193A	8603	broad.mit.edu	37	4	2692666	2692667	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:2692666_2692667delCA	uc010ick.3	+	13	2500_2501	c.2499_2500delCA	c.(2497-2502)ttcagafs	p.F833fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.F655fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.F633fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.F487fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	633										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACAGCCAGTTCAGAGTGTCATC	0.53													-	2692667	CA	-	2692666	7	5	187	1	0	1	0	1	0	0	0	0	5524	825	29	0	1941	0	FAM193A	4	2692666	Frame_Shift_Del	DEL	CA	TCGA-27-1835-01A-01D-1494-08	714288	2692666	188461610	19	12961											
USP46	64854	broad.mit.edu	37	4	53468067	53468067	+	Silent	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:53468067C>G	uc003gzn.3	-	6	1061	c.876G>C	c.(874-876)ctG>ctC	p.L292L	USP46_uc003gzm.4_Silent_p.L285L|USP46_uc011bzr.2_Silent_p.L269L|USP46_uc011bzs.2_Silent_p.L176L	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	292					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ACATGCGGTCCAGGTTCACTG	0.537													G	53468067	C	G	53468067	2	3	187	1	0	0	0	0	0	0	0	1	17074	581	21	5		5	USP46	4	53468067	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	50775401	53468067	137686209	20	12962											
C4orf40	401137	broad.mit.edu	37	4	71024299	71024299	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:71024299G>A	uc003hfa.4	+	3	403	c.330G>A	c.(328-330)ccG>ccA	p.P110P	C4orf40_uc003hfb.4_Silent_p.P110P	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	110						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGGGTTTCCCGTTTGTCCCTC	0.532													A	71024299	G	A	71024299	2	1	187	1	0	0	0	0	0	0	0	1	2269	1132	40	1		1	C4orf40	4	71024299	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	17556232	71024299	120129977	21	12963											
PRDM5	11107	broad.mit.edu	37	4	121720881	121720884	+	Frame_Shift_Del	DEL	CAAT	CAAT	-	rs34666716	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:121720881_121720884delCAAT	uc003idn.3	-	8	1212_1215	c.962_965delATTG	c.(961-966)gattgtfs	p.D321fs	PRDM5_uc003ido.3_Frame_Shift_Del_p.D290fs|PRDM5_uc010ine.3_Frame_Shift_Del_p.D290fs	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	321					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.D321Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACATTCTTGACAATCAAATATCTC	0.309													-	121720884	CAAT	-	121720881	7	5	187	1	0	1	0	1	0	0	0	0	12460	478	17	0	959	0	PRDM5	4	121720881	Frame_Shift_Del	DEL	CAAT	TCGA-27-1835-01A-01D-1494-08	50696582	121720881	69433395	22	12964											
GPR98	84059	broad.mit.edu	37	5	89981612	89981612	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:89981612G>A	uc003kju.3	+	28	6386	c.6290G>A	c.(6289-6291)cGt>cAt	p.R2097H	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2097			R -> C (in dbSNP:rs16868974).		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTCTCCACGTCTTGGGCCT	0.423													A	89981612	G	A	89981612	3	1	187	1	0	0	0	0	1	0	0	0	6721	1145	40	1	6404	1	GPR98	5	89981612	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		89981612	90933648	23	12965											
ADAMTS19	171019	broad.mit.edu	37	5	128957961	128957961	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:128957961C>G	uc003kvb.1	+	9	1672	c.1672C>G	c.(1672-1674)Ctg>Gtg	p.L558V	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	558	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCCCTCCAAGCTGCCAGGGAT	0.468													G	128957961	C	G	128957961	3	3	187	1	0	0	0	0	1	0	0	0	264	796	28	5	1710	5	ADAMTS19	5	128957961	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	38976349	128957961	51957299	24	12966											
GABRA6	2559	broad.mit.edu	37	5	161116169	161116169	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:161116169C>A	uc003lyu.2	+	3	778	c.440C>A	c.(439-441)aCc>aAc	p.T147N	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	147					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTTTATACACCATGAGGTGA	0.373										TCGA Ovarian(5;0.080)			A	161116169	C	A	161116169	3	1	187	1	0	0	0	0	1	0	0	0	6165	507	18	5	454	5	GABRA6	5	161116169	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	32158208	161116169	19799091	25	12967											
DDX41	51428	broad.mit.edu	37	5	176943782	176943782	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:176943782C>G	uc003mho.3	-	1	103	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	DDX41_uc003mhn.3_5'UTR|DDX41_uc003mhp.3_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	28				PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150).	apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					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)			TCGTCGTCCTCATCTTCCGCC	0.706													G	176943782	C	G	176943782	3	3	187	1	0	0	0	0	1	0	0	0	4361	835	29	5	1850	5	DDX41	5	176943782	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	15827613	176943782	3971478	26	12968											
GPR116	221395	broad.mit.edu	37	6	46826114	46826114	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:46826114C>T	uc003oyo.3	-	16	3815	c.3526G>A	c.(3526-3528)Gcc>Acc	p.A1176T	GPR116_uc011dwj.1_Missense_Mutation_p.A731T|GPR116_uc011dwk.1_Missense_Mutation_p.A605T|GPR116_uc003oyp.3_Missense_Mutation_p.A1034T|GPR116_uc003oyq.3_Missense_Mutation_p.A1176T|GPR116_uc010jzi.1_Missense_Mutation_p.A848T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1176					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCTGGGATGGCGAAAGCCAGC	0.547													T	46826114	C	T	46826114	3	4	187	1	0	0	0	0	1	0	0	0	6633	768	27	1	534	1	GPR116	6	46826114	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		46826114	124288953	27	12969											
NT5E	4907	broad.mit.edu	37	6	86197137	86197137	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:86197137A>G	uc003pko.4	+	4	1590	c.1034A>G	c.(1033-1035)tAt>tGt	p.Y345C	NT5E_uc010kbr.3_Missense_Mutation_p.Y345C	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	345					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ACAATTGTCTATCTGGATGGC	0.393													G	86197137	A	G	86197137	3	3	187	1	0	0	0	0	1	0	0	0	10693	449	16	4	1052	4	NT5E	6	86197137	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	39371023	86197137	84917930	28	12970											
MDN1	23195	broad.mit.edu	37	6	90362720	90362720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:90362720delC	uc003pnn.1	-	93	15932	c.15816delG	c.(15814-15816)acgfs	p.T5272fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5272					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.T5272A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTGGAAGATCGTGTCCATGA	0.338													-	90362720	C	-	90362720	7	5	187	1	0	1	0	1	0	0	0	0	9415	871	31	0	1010	0	MDN1	6	90362720	Frame_Shift_Del	DEL	C	TCGA-27-1835-01A-01D-1494-08	4165583	90362720	80752347	29	12971											
MAP3K7	6885	broad.mit.edu	37	6	91281453	91281453	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:91281453A>G	uc003pnz.1	-	1	499	c.194T>C	c.(193-195)aTa>aCa	p.I65T	MAP3K7_uc003pob.1_Missense_Mutation_p.I65T|MAP3K7_uc003poa.1_Missense_Mutation_p.I65T|MAP3K7_uc003poc.1_Missense_Mutation_p.I65T	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	65	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCACTTTCTATTTGTTTAAT	0.338													G	91281453	A	G	91281453	3	3	187	1	0	0	0	0	1	0	0	0	9255	449	16	4	1690	4	MAP3K7	6	91281453	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	918733	91281453	79833614	30	12972											
SLC16A10	117247	broad.mit.edu	37	6	111498841	111498841	+	Silent	SNP	T	T	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:111498841T>C	uc003pus.3	+	2	1090	c.915T>C	c.(913-915)ttT>ttC	p.F305F	SLC16A10_uc003pur.4_Silent_p.F305F|SLC16A10_uc003put.3_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	305					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TTGCACTTTTTGGATACTTTG	0.363													C	111498841	T	C	111498841	2	2	187	1	0	0	0	0	0	0	0	1	14403	1809	63	4		4	SLC16A10	6	111498841	Silent	SNP	T	TCGA-27-1835-01A-01D-1494-08	20217388	111498841	59616226	31	12973											
RSPH4A	345895	broad.mit.edu	37	6	116938051	116938051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:116938051G>T	uc003pxe.2	+	0	410	c.265G>T	c.(265-267)Gag>Tag	p.E89*	RSPH4A_uc010kee.2_Nonsense_Mutation_p.E89*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	89					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTCCGCGGGAGCCCTCTTC	0.647									Kartagener syndrome				T	116938051	G	T	116938051	4	4	187	1	0	0	0	0	0	1	0	0	13706	1175	41	5	267	5	RSPH4A	6	116938051	Nonsense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	5439210	116938051	54177016	32	12974											
RFX6	222546	broad.mit.edu	37	6	117244279	117244279	+	Missense_Mutation	SNP	C	C	A	rs144863251		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:117244279C>A	uc003pxm.3	+	13	1510	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	483					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.Q483K(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCAAACAAAATGGAAG	0.363													A	117244279	C	A	117244279	3	1	187	1	0	0	0	0	1	0	0	0	13267	479	17	5	1501	5	RFX6	6	117244279	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	306228	117244279	53870788	33	12975											
CNKSR3	154043	broad.mit.edu	37	6	154743668	154743668	+	Frame_Shift_Del	DEL	T	T	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:154743668delT	uc021zhc.1	-	8	1422	c.917delA	c.(916-918)aacfs	p.N306fs	CNKSR3_uc003qpy.3_Frame_Shift_Del_p.N306fs	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	306					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCACCGTAGGTTTTTCAGGGG	0.448													-	154743668	T	-	154743668	7	5	187	1	0	1	0	1	0	0	0	0	3608	1725	60	0	770	0	CNKSR3	6	154743668	Frame_Shift_Del	DEL	T	TCGA-27-1835-01A-01D-1494-08	37499389	154743668	16371399	34	12976											
DLL1	28514	broad.mit.edu	37	6	170599203	170599203	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:170599203G>A	uc003qxm.3	-	0	495	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	DLL1_uc011ehc.1_Silent_p.L9L|DLL1_uc003qxn.3_Silent_p.L9L	NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	9					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGCACCGCCAGGGCCAGCGCG	0.761													A	170599203	G	A	170599203	2	1	187	1	0	0	0	0	0	0	0	1	4566	991	35	3		3	DLL1	6	170599203	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	15855535	170599203	515864	35	12977											
HOXA6	3203	broad.mit.edu	37	7	27186942	27186942	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:27186942T>G	uc003syo.2	-	0	452	c.427A>C	c.(427-429)Atg>Ctg	p.M143L	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Missense_Mutation_p.S9A	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CAGGAGTTCATCCGCTGCATC	0.562													G	27186942	T	G	27186942	3	3	187	1	0	0	0	0	1	0	0	0	7296	1435	50	5	282	5	HOXA6	7	27186942	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08		27186942	131951721	36	12978											
ABCB1	5243	broad.mit.edu	37	7	87179256	87179256	+	Missense_Mutation	SNP	G	G	A	rs142600685	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:87179256G>A	uc003uiz.2	-	13	1958	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ABCB1_uc011khc.2_Missense_Mutation_p.R425C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	489	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CGGCCATAGCGAATGTTTTCA	0.428													A	87179256	G	A	87179256	3	1	187	1	0	0	0	0	1	0	0	0	40	1058	37	2	2441	2	ABCB1	7	87179256	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	59992314	87179256	71959407	37	12979											
MCM7	4176	broad.mit.edu	37	7	99693696	99693696	+	Silent	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:99693696C>T	uc003usw.1	-	10	1806	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	MCM7_uc003usv.1_Silent_p.G256G|MCM7_uc003usx.1_Silent_p.G256G|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	432	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCACCAGGGCCCCACCCTCTA	0.612													T	99693696	C	T	99693696	2	4	187	1	0	0	0	0	0	0	0	1	9392	610	22	3		3	MCM7	7	99693696	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	12514440	99693696	59444967	38	12980											
MUC17	140453	broad.mit.edu	37	7	100681846	100681846	+	Silent	SNP	C	C	T	rs138267850		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:100681846C>T	uc003uxp.1	+	2	7202	c.7149C>T	c.(7147-7149)gaC>gaT	p.D2383D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2383	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A2382V(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)					CAACTGCTGACGATACTAGCA	0.498													T	100681846	C	T	100681846	2	4	187	1	0	0	0	0	0	0	0	1	9974	535	19	1		1	MUC17	7	100681846	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	988150	100681846	58456817	39	12981											
PIK3CG	5294	broad.mit.edu	37	7	106508257	106508257	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:106508257C>T	uc003vdv.4	+	1	336	c.251C>T	c.(250-252)gCg>gTg	p.A84V	PIK3CG_uc003vdu.3_Missense_Mutation_p.A84V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A84V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	84					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			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						ACCAGCGTGGCGGCGGACTTC	0.637													T	106508257	C	T	106508257	3	4	187	1	0	0	0	0	1	0	0	0	11916	768	27	1	253	1	PIK3CG	7	106508257	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	5826411	106508257	52630406	40	12982											
EBF2	64641	broad.mit.edu	37	8	25766052	25766052	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr8:25766052G>T	uc003xes.2	-	6	836	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	DOCK5_uc003xek.3_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	191					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGCACTTGAGGAAAAATTTT	0.363													T	25766052	G	T	25766052	3	4	187	1	0	0	0	0	1	0	0	0	4881	1000	35	5	1196	5	EBF2	8	25766052	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		25766052	120597970	41	12983											
TMC1	117531	broad.mit.edu	37	9	75441788	75441789	+	Frame_Shift_Ins	INS	-	-	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:75441788_75441789insA	uc004aiz.1	+	20	2547_2548	c.2007_2008insA	c.(2005-2010)ggcaaafs	p.G669fs	TMC1_uc010moz.1_Frame_Shift_Ins_p.G627fs|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Frame_Shift_Ins_p.G523fs|TMC1_uc010mpa.1_Frame_Shift_Ins_p.G523fs	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	669					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CCCCCAGTGGCAAAAATAGAAT	0.411													A	75441789	-	A	75441788	7	5	187	1	0	1	1	0	0	0	0	0	15981	697	25	0	2073	0	TMC1	9	75441788	Frame_Shift_Ins	INS	-	TCGA-27-1835-01A-01D-1494-08		75441788	65771643	42	12984											
ACTL7B	10880	broad.mit.edu	37	9	111618206	111618206	+	Missense_Mutation	SNP	G	G	A	rs139165156		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:111618206G>A	uc004bdi.3	-	0	70	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	2						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTTCCTTGTCGCCATCTGCCT	0.667													A	111618206	G	A	111618206	3	1	187	1	0	0	0	0	1	0	0	0	201	1087	38	1	1246	1	ACTL7B	9	111618206	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	36176418	111618206	29595225	43	12985											
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	rs148548209		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:137620520C>T	uc004cfe.3	+	5	1173	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612													T	137620520	C	T	137620520	3	4	187	1	0	0	0	0	1	0	0	0	3696	536	19	1	813	1	COL5A1	9	137620520	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	26002314	137620520	3592911	44	12986											
CALML5	51806	broad.mit.edu	37	10	5540984	5540984	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr10:5540984C>T	uc001iic.2	-	0	550	c.418G>A	c.(418-420)Gcg>Acg	p.A140T		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	140	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						AGCATCCTCGCGAACTCCTCG	0.701													T	5540984	C	T	5540984	3	4	187	1	0	0	0	0	1	0	0	0	2589	768	27	1	26	1	CALML5	10	5540984	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		5540984	129993763	45	12987											
SLK	9748	broad.mit.edu	37	10	105752828	105752828	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr10:105752828A>G	uc001kxo.1	+	3	485	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	SLK_uc001kxp.1_Missense_Mutation_p.I151V	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	151	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAATAAGATCATCCACAG	0.333													G	105752828	A	G	105752828	3	3	187	1	0	0	0	0	1	0	0	0	14748	333	12	4	465	4	SLK	10	105752828	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	100211844	105752828	29781919	46	12988											
IFITM1	8519	broad.mit.edu	37	11	314342	314342	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:314342G>A	uc001loy.4	+	0	352	c.172G>A	c.(172-174)Gcc>Acc	p.A58T		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	58					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATAGCATTCGCCTACTCCGT	0.612													A	314342	G	A	314342	3	1	187	1	0	0	0	0	1	0	0	0	7526	1087	38	1	174	1	IFITM1	11	314342	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		314342	134692174	47	12989											
SYT9	143425	broad.mit.edu	37	11	7334771	7334771	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:7334771C>T	uc001mfe.3	+	2	880	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	215						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R215W(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGACGGGAGACGGAGTAACAG	0.398													T	7334771	C	T	7334771	3	4	187	1	0	0	0	0	1	0	0	0	15478	527	19	1	653	1	SYT9	11	7334771	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	7020429	7334771	127671745	48	12990											
OR5J2	282775	broad.mit.edu	37	11	55944236	55944236	+	Nonsense_Mutation	SNP	T	T	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:55944236T>A	uc010rjb.2	+	0	143	c.143T>A	c.(142-144)tTa>tAa	p.L48*		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATGATCCTCTTAATCCAAATC	0.428													A	55944236	T	A	55944236	4	1	187	1	0	0	0	0	0	1	0	0	11165	1764	61	5	145	5	OR5J2	11	55944236	Nonsense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	48609465	55944236	79062280	49	12991											
POLA2	23649	broad.mit.edu	37	11	65048610	65048610	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:65048610C>A	uc001odj.3	+	7	1224	c.892C>A	c.(892-894)Cct>Act	p.P298T	POLA2_uc010rod.1_Missense_Mutation_p.P90T|POLA2_uc001odk.3_5'UTR	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	298					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TTCTCTGTTTCCTGGACAGGT	0.512													A	65048610	C	A	65048610	3	1	187	1	0	0	0	0	1	0	0	0	12188	855	30	5	922	5	POLA2	11	65048610	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	9104374	65048610	69957906	50	12992											
OR10G7	390265	broad.mit.edu	37	11	123909464	123909464	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:123909464G>A	uc001pzq.1	-	0	245	c.245C>T	c.(244-246)aCc>aTc	p.T82I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T82T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACACCAAGGTCATCAGCAT	0.532													A	123909464	G	A	123909464	3	1	187	1	0	0	0	0	1	0	0	0	10902	1261	44	3	694	3	OR10G7	11	123909464	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	58860854	123909464	11097052	51	12993											
IQSEC3	440073	broad.mit.edu	37	12	248252	248254	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:248252_248254delGAG	uc001qhw.2	+	3	1723_1725	c.1723_1725delGAG	c.(1723-1725)gagdel	p.E579del	IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	579	Poly-Glu.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			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)		Agaggaggaagaggaggaggagg	0.7													-	248254	GAG	-	248252	7	5	187	1	0	1	0	1	0	0	0	0	7819	943	33	0	1737	0	IQSEC3	12	248252	In_Frame_Del	DEL	GAG	TCGA-27-1835-01A-01D-1494-08		248252	133603643	52	12994											
C3AR1	719	broad.mit.edu	37	12	8211864	8211864	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:8211864G>A	uc001qtv.1	-	1	1010	c.918C>T	c.(916-918)taC>taT	p.Y306Y	C3AR1_uc021quj.1_Silent_p.Y306Y	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	306					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GCTCAGACTCGTAGAAGGAAT	0.438													A	8211864	G	A	8211864	2	1	187	1	0	0	0	0	0	0	0	1	2205	1140	40	1		1	C3AR1	12	8211864	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	7963612	8211864	125640031	53	12995											
C12orf51	283450	broad.mit.edu	37	12	112622744	112622744	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:112622744G>A	uc021reb.1	-	60	10020	c.9624C>T	c.(9622-9624)agC>agT	p.S3208S		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGCCTCCGATGCTGAGCACGG	0.627													A	112622744	G	A	112622744	2	1	187	1	0	0	0	0	0	0	0	1	1696	1310	46	3		3	C12orf51	12	112622744	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	104410880	112622744	21229151	54	12996											
DDX54	79039	broad.mit.edu	37	12	113600992	113600992	+	Silent	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:113600992G>T	uc001tuq.4	-	15	2054	c.2026C>A	c.(2026-2028)Cgg>Agg	p.R676R	DDX54_uc001tup.3_Silent_p.R676R	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	676					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	p.R676L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTGGTCCCGCTGCCGGGCC	0.667													T	113600992	G	T	113600992	2	4	187	1	0	0	0	0	0	0	0	1	4372	1086	38	5		5	DDX54	12	113600992	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	978248	113600992	20250903	55	12997											
LTBP2	4053	broad.mit.edu	37	14	74991895	74991895	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:74991895C>G	uc001xqa.3	-	14	2849	c.2462G>C	c.(2461-2463)gGg>gCg	p.G821A		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	821					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.G821R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCTGCAATCCCCTGTTCAGG	0.612													G	74991895	C	G	74991895	3	3	187	1	0	0	0	0	1	0	0	0	9074	623	22	5	3091	5	LTBP2	14	74991895	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		74991895	32357645	56	12998			1	33		2	2	33	C		7.959179e-05
LTBP2	4053	broad.mit.edu	37	14	74991927	74991927	+	Silent	SNP	C	C	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:74991927C>G	uc001xqa.3	-	15	2816	c.2429_splice	c.e15-1	p.G810_splice		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	810					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTGTGGCATTCCCTGTGGAGG	0.597													G	74991927	C	G	74991927	2	3	187	1	0	0	0	0	0	0	0	1	9074	869	30	5		5	LTBP2	14	74991927	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	32	74991927	32357613	57	12999			1	33		2	2	33	C		7.959179e-05
STON2	85439	broad.mit.edu	37	14	81744671	81744671	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:81744671G>C	uc010tvu.2	-	3	1182	c.984C>G	c.(982-984)atC>atG	p.I328M	STON2_uc001xvk.1_Missense_Mutation_p.I328M|STON2_uc010tvt.2_Missense_Mutation_p.I125M	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	328					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			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)		TGAAAGGGTTGATAGGGGAGG	0.512													C	81744671	G	C	81744671	3	2	187	1	0	0	0	0	1	0	0	0	15317	1280	45	5	1739	5	STON2	14	81744671	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	6752744	81744671	25604869	58	13000											
C14orf109	26175	broad.mit.edu	37	14	93651787	93651787	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:93651787T>A	uc001ybk.4	+						MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.S19T|C14orf109_uc021sax.1_5'Flank	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.							integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GCTGAGTGACTCTTTAACGCT	0.502													A	93651787	T	A	93651787	3	1	187	1	0	0	0	0	1	0	0	0	1739	1551	54	5	57	5	C14orf109	14	93651787	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	11907116	93651787	13697753	59	13001											
RLTPR	146206	broad.mit.edu	37	16	67683828	67683828	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr16:67683828C>T	uc002etn.3	+	20	2159	c.2039C>T	c.(2038-2040)gCg>gTg	p.A680V	RLTPR_uc010cel.1_Missense_Mutation_p.A673V|RLTPR_uc010vjr.2_Missense_Mutation_p.A644V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	680										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTGGCCCAGGCGCAGCGCAGC	0.647													T	67683828	C	T	67683828	3	4	187	1	0	0	0	0	1	0	0	0	13394	768	27	1	2121	1	RLTPR	16	67683828	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		67683828	22670925	60	13002											
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:7578203C>T	uc002gim.2	-	5	840	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(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)		GGCACCACCACACTATGTCGA	0.537		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)			T	7578203	C	T	7578203	3	4	187	1	0	0	0	0	1	0	0	0	16378	478	17	3	648	3	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		7578203	73617007	61	13003											
PLXDC1	57125	broad.mit.edu	37	17	37265501	37265501	+	Silent	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:37265501C>T	uc002hrg.2	-	3	611	c.399_splice	c.e3+1	p.S133_splice	PLXDC1_uc002hrh.2_Splice_Site|PLXDC1_uc002hri.2_Splice_Site|PLXDC1_uc002hrj.1_Splice_Site|PLXDC1_uc002hrk.1_Splice_Site	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	133					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGGCACTCACCGAAGCCTGCC	0.657													T	37265501	C	T	37265501	2	4	187	1	0	0	0	0	0	0	0	1	12117	666	23	2		2	PLXDC1	17	37265501	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	29687298	37265501	43929709	62	13004											
SCN4A	6329	broad.mit.edu	37	17	62036660	62036660	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:62036660C>T	uc002jds.1	-	11	2061	c.1984G>A	c.(1984-1986)Gta>Ata	p.V662I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	662					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	AGTCCCTGTACGTTGGCCAGG	0.592													T	62036660	C	T	62036660	3	4	187	1	0	0	0	0	1	0	0	0	13920	536	19	1	3578	1	SCN4A	17	62036660	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	24771159	62036660	19158550	63	13005											
PALM	5064	broad.mit.edu	37	19	746653	746653	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr19:746653G>A	uc002lpm.1	+	8	1197	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	PALM_uc002lpn.1_Missense_Mutation_p.A291T|PALM_uc010xfu.1_Missense_Mutation_p.A200T	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	335					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		CGAAGACGCGGCTGAGCCCAA	0.647													A	746653	G	A	746653	3	1	187	1	0	0	0	0	1	0	0	0	11408	1203	42	3	1037	3	PALM	19	746653	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		746653	58382330	64	13006											
SAFB2	9667	broad.mit.edu	37	19	5587954	5587954	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr19:5587954C>T	uc002mcd.3	-	18	2775	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	855	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGGTGCTCCTCTAGCCGCTGG	0.652													T	5587954	C	T	5587954	3	4	187	1	0	0	0	0	1	0	0	0	13807	922	32	3	310	3	SAFB2	19	5587954	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	4841301	5587954	53541029	65	13007											
ANGPT4	51378	broad.mit.edu	37	20	860425	860425	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:860425C>T	uc002wei.3	-	5	1121	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	ANGPT4_uc010zpn.2_Missense_Mutation_p.V334M	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	340	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGAAAATTCACGGTGCCATTC	0.617													T	860425	C	T	860425	3	4	187	1	0	0	0	0	1	0	0	0	612	536	19	1	509	1	ANGPT4	20	860425	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		860425	62165095	66	13008											
PTPRT	11122	broad.mit.edu	37	20	41306569	41306569	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:41306569G>A	uc002xkg.3	-	6	1274	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.R364*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	364	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCACCTGGTCGTGTGAGGAGC	0.562													A	41306569	G	A	41306569	4	1	187	1	0	0	0	0	0	1	0	0	12812	1153	40	1	3396	1	PTPRT	20	41306569	Nonsense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	40446144	41306569	21718951	67	13009											
MATN4	8785	broad.mit.edu	37	20	43927042	43927042	+	Silent	SNP	A	A	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:43927042A>T	uc002xnn.2	-	6	1381	c.1194T>A	c.(1192-1194)ccT>ccA	p.P398P	MATN4_uc002xnp.2_Silent_p.P316P|MATN4_uc002xno.2_Silent_p.P357P|MATN4_uc010zwr.1_Silent_p.P346P|MATN4_uc002xnr.1_Silent_p.P398P	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	439	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGCGACCCAGAGGGAACTCGG	0.662													T	43927042	A	T	43927042	2	4	187	1	0	0	0	0	0	0	0	1	9336	291	11	5		5	MATN4	20	43927042	Silent	SNP	A	TCGA-27-1835-01A-01D-1494-08	2620473	43927042	19098478	68	13010											
MATN4	8785	broad.mit.edu	37	20	43933002	43933002	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:43933002G>A	uc002xnn.2	-	2	696	c.509C>T	c.(508-510)gCg>gTg	p.A170V	MATN4_uc002xnp.2_Missense_Mutation_p.A170V|MATN4_uc002xno.2_Missense_Mutation_p.A170V|MATN4_uc010zwr.1_Missense_Mutation_p.A118V|MATN4_uc002xnr.1_Missense_Mutation_p.A170V|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	170	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CACCCCCACCGCGTAAATTTC	0.706													A	43933002	G	A	43933002	3	1	187	1	0	0	0	0	1	0	0	0	9336	1087	38	1	1268	1	MATN4	20	43933002	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	5960	43933002	19092518	69	13011											
MMP9	4318	broad.mit.edu	37	20	44641083	44641083	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:44641083G>A	uc002xqz.3	+	7	1211	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	398					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGTTCCTCGTGGCGGCGCA	0.662													A	44641083	G	A	44641083	3	1	187	1	0	0	0	0	1	0	0	0	9669	1145	40	1	1222	1	MMP9	20	44641083	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	708081	44641083	18384437	70	13012											
MIOX	55586	broad.mit.edu	37	22	50928230	50928230	+	Missense_Mutation	SNP	G	G	A	rs140377157	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr22:50928230G>A	uc003bll.1	+	9	917	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	MIOX_uc003blm.1_Silent_p.A263A|MIOX_uc003bln.1_Silent_p.A224A	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	268					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACAAGCTGCGGCCCTACTAC	0.662													A	50928230	G	A	50928230	3	1	187	1	0	0	0	0	1	0	0	0	9590	1116	39	2	841	2	MIOX	22	50928230	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		50928230	376336	71	13013											
EIF1AX	1964	broad.mit.edu	37	X	20148634	20148634	+	Silent	SNP	G	G	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:20148634G>A	uc004czt.3	-	6	637	c.429_splice	c.e6+1	p.D143_splice		NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	143						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATCTACTTACGTCATCAATAT	0.338													A	20148634	G	A	20148634	2	1	187	1	0	0	0	0	0	0	0	1	4992	1159	40	1		1	EIF1AX	23	20148634	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08		20148634	135121926	72	13014											
ZNF674	641339	broad.mit.edu	37	X	46359485	46359485	+	Silent	SNP	G	G	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:46359485G>T	uc004dgr.3	-	5	1766	c.1539C>A	c.(1537-1539)atC>atA	p.I513I	ZNF674_uc011mlg.2_Silent_p.I507I|ZNF674_uc022bvl.1_Silent_p.I508I	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TCTGATGTTTGATGAGAGTTG	0.398													T	46359485	G	T	46359485	2	4	187	1	0	0	0	0	0	0	0	1	18078	1280	45	5		5	ZNF674	23	46359485	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	26210851	46359485	108911075	73	13015											
ACRC	93953	broad.mit.edu	37	X	70830591	70830591	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:70830591A>G	uc004eae.2	+	10	2173	c.1672A>G	c.(1672-1674)Agc>Ggc	p.S558G	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	558						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGGCTTATGCAGCACTGGTGA	0.493													G	70830591	A	G	70830591	3	3	187	1	0	0	0	0	1	0	0	0	171	188	7	4	1710	4	ACRC	23	70830591	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	24471106	70830591	84439969	74	13016											
RPS4X	6191	broad.mit.edu	37	X	71492579	71492579	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:71492579C>T	uc004ear.3	-	6	830	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_001007	NP_000998	P62701	RS4X_HUMAN	Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA.	245					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					AATGGTGAGGCGGATACCCTT	0.488													T	71492579	C	T	71492579	3	4	187	1	0	0	0	0	1	0	0	0	13645	768	27	1	61	1	RPS4X	23	71492579	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	661988	71492579	83777981	75	13017											
COL4A6	1288	broad.mit.edu	37	X	107407829	107407829	+	Splice_Site	SNP	C	C	A			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:107407829C>A	uc004enw.4	-	40	4175	c.4072_splice	c.e40+1	p.G1358_splice	COL4A6_uc004env.4_Splice_Site_p.G1357_splice|COL4A6_uc011msn.2_Splice_Site_p.G1333_splice|COL4A6_uc010npk.3_Intron	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1358	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTCAACTTACCTCTTGGCCC	0.592									Alport syndrome with Diffuse Leiomyomatosis				A	107407829	C	A	107407829	5	1	187	1	0	0	0	0	0	0	1	0	3695	521	18	5	1026	5	COL4A6	23	107407829	Splice_Site	SNP	C	TCGA-27-1835-01A-01D-1494-08	35915250	107407829	47862731	76	13018											
MAGEC2	51438	broad.mit.edu	37	X	141291591	141291591	+	Silent	SNP	C	C	T			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:141291591C>T	uc022cfj.1	-	0	183	c.183G>A	c.(181-183)ctG>ctA	p.L61L	MAGEC2_uc004fbu.2_Silent_p.L61L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	61						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAGAATCAGAGAAGAGG	0.532										HNSCC(46;0.14)			T	141291591	C	T	141291591	2	4	187	1	0	0	0	0	0	0	0	1	9181	813	29	3		3	MAGEC2	23	141291591	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	33883762	141291591	13978969	77	13019											
PTCH2	8643	broad.mit.edu	37	1	45288988	45288988	+	Missense_Mutation	SNP	C	C	T	rs142187073	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:45288988C>T	uc010olf.2	-	19	3196	c.3184G>A	c.(3184-3186)Gtg>Atg	p.V1062M	PTCH2_uc021omv.1_Missense_Mutation_p.V1062M|PTCH2_uc010olg.2_Missense_Mutation_p.V760M	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1062					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCATCGGTCACGGGGGCAAAT	0.617									Basal Cell Nevus syndrome				T	45288988	C	T	45288988	3	4	188	1	0	0	0	0	1	0	0	0	12731	536	19	1	459	1	PTCH2	1	45288988	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		45288988	203961633	1	13020											
NRD1	4898	broad.mit.edu	37	1	52260179	52260179	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:52260179C>T	uc001ctc.4	-	25	3266	c.2944G>A	c.(2944-2946)Ggt>Agt	p.G982S	NRD1_uc009vzb.3_Missense_Mutation_p.G677S|NRD1_uc001cte.3_Missense_Mutation_p.G850S|NRD1_uc001ctd.4_Missense_Mutation_p.G914S|NRD1_uc001ctf.2_Missense_Mutation_p.G914S|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	913					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTGGCATCACCCTTGTTCAGA	0.547													T	52260179	C	T	52260179	3	4	188	1	0	0	0	0	1	0	0	0	10645	623	22	3	747	3	NRD1	1	52260179	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	6971191	52260179	196990442	2	13021											
HIPK1	204851	broad.mit.edu	37	1	114500841	114500841	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:114500841G>A	uc001eem.3	+	7	2070	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	HIPK1_uc001eel.3_Missense_Mutation_p.G637R|HIPK1_uc001een.3_Missense_Mutation_p.G637R|HIPK1_uc001eeo.3_Missense_Mutation_p.G263R|HIPK1_uc001eep.3_Missense_Mutation_p.G243R	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGCAGCCTGGAACCACCCA	0.463													A	114500841	G	A	114500841	3	1	188	1	0	0	0	0	1	0	0	0	7116	1349	47	3	1953	3	HIPK1	1	114500841	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	62240662	114500841	134749780	3	13022											
RYR2	6262	broad.mit.edu	37	1	237777379	237777379	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:237777379C>T	uc001hyl.1	+	36	5071	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1651	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			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)			GGAGGAATTGCTGAAATTTCA	0.463													T	237777379	C	T	237777379	2	4	188	1	0	0	0	0	0	0	0	1	13769	796	28	3		3	RYR2	1	237777379	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	123276538	237777379	11473242	4	13023											
OR2T34	127068	broad.mit.edu	37	1	248737350	248737350	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:248737350C>T	uc001iep.1	-	0	709	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237P(4)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			CTGCGGCCGGCGGCAGAATTC	0.562													T	248737350	C	T	248737350	3	4	188	1	0	0	0	0	1	0	0	0	11025	768	27	1	251	1	OR2T34	1	248737350	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	10959971	248737350	513271	5	13024											
RCAN2	51776	broad.mit.edu	37	2	174131096	174131096	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:174131096C>T	uc002uhz.3	+	19	2221	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGTCGATACTCAGACAGAAGC	0.448													T	174131096	C	T	174131096	3	4	188	1	0	0	0	0	1	0	0	0	13169	838	29	3		3	RCAN2	2	174131096	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		174131096	69068277	6	13025											
ACADL	33	broad.mit.edu	37	2	211070506	211070506	+	Silent	SNP	A	A	G			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:211070506A>G	uc002vdz.4	-	5	846	c.618T>C	c.(616-618)aaT>aaC	p.N206N		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	206					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTAATGACCCATTACTGATGA	0.388													G	211070506	A	G	211070506	2	3	188	1	0	0	0	0	0	0	0	1	112	214	8	4		4	ACADL	2	211070506	Silent	SNP	A	TCGA-27-1836-01A-01D-1494-08	36939410	211070506	32128867	7	13026											
NKTR	4820	broad.mit.edu	37	3	42676817	42676817	+	Silent	SNP	A	A	G	rs142015233		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:42676817A>G	uc003clo.3	+	11	1269	c.1122A>G	c.(1120-1122)gcA>gcG	p.A374A	NKTR_uc003clm.1_Silent_p.A121A|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Silent_p.A121A|NKTR_uc003clq.1_Silent_p.A264A|NKTR_uc003clr.1_Silent_p.A121A|NKTR_uc003cls.3_Silent_p.A74A	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	374					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GATTAAGAGCATATAGACCAC	0.388													G	42676817	A	G	42676817	2	3	188	1	0	0	0	0	0	0	0	1	10448	204	8	4		4	NKTR	3	42676817	Silent	SNP	A	TCGA-27-1836-01A-01D-1494-08		42676817	155345613	8	13027											
KBTBD8	84541	broad.mit.edu	37	3	67054666	67054666	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:67054666C>T	uc003dmy.3	+	2	1328	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	425										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													T	67054666	C	T	67054666	2	4	188	1	0	0	0	0	0	0	0	1	7999	776	27	1		1	KBTBD8	3	67054666	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	24377849	67054666	130967764	9	13028											
ROBO1	6091	broad.mit.edu	37	3	78734960	78734960	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:78734960G>A	uc003dqe.2	-	9	1486	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y	ROBO1_uc003dqc.2_Silent_p.Y390Y|ROBO1_uc003dqd.2_Silent_p.Y390Y|ROBO1_uc003dqb.2_Silent_p.Y387Y|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Silent_p.Y105Y	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	426	Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGGCAGATGTAATAACCAA	0.393													A	78734960	G	A	78734960	2	1	188	1	0	0	0	0	0	0	0	1	13513	1372	48	3		3	ROBO1	3	78734960	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08	11680294	78734960	119287470	10	13029											
DNAJB8	165721	broad.mit.edu	37	3	128181904	128181904	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:128181904C>T	uc003ekk.1	-	2	1846	c.185G>A	c.(184-186)cGc>cAc	p.R62H	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.R62H	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	62	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		ATACAGGGAGCGTTTCTTGGA	0.602													T	128181904	C	T	128181904	3	4	188	1	0	0	0	0	1	0	0	0	4626	768	27	1	517	1	DNAJB8	3	128181904	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	49446944	128181904	69840526	11	13030											
ARL14	80117	broad.mit.edu	37	3	160395695	160395695	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:160395695G>A	uc003fdq.3	+	0	748	c.561G>A	c.(559-561)gcG>gcA	p.A187A		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	187					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			ACACTTTGGCGTTCTTCAAGC	0.473													A	160395695	G	A	160395695	2	1	188	1	0	0	0	0	0	0	0	1	930	1132	40	1		1	ARL14	3	160395695	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08	32213791	160395695	37626735	12	13031											
KNG1	3827	broad.mit.edu	37	3	186459456	186459456	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:186459456G>A	uc011bsa.2	+	9	1505	c.1271G>A	c.(1270-1272)gGg>gAg	p.G424E	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	424	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.E423D(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AAAGAACAAGGGCATACTCGT	0.458													A	186459456	G	A	186459456	3	1	188	1	0	0	0	0	1	0	0	0	8427	1232	43	3	1309	3	KNG1	3	186459456	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	26063761	186459456	11562974	13	13032											
UGT2B10	7365	broad.mit.edu	37	4	69681966	69681966	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr4:69681966C>A	uc003hee.3	+	0	254	c.229C>A	c.(229-231)Cct>Act	p.P77T	UGT2B10_uc011cam.2_Missense_Mutation_p.P77T	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	77					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGTTTATCCTACATCTTT	0.348													A	69681966	C	A	69681966	3	1	188	1	0	0	0	0	1	0	0	0	16953	855	30	5	231	5	UGT2B10	4	69681966	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		69681966	121472310	14	13033											
TLR2	7097	broad.mit.edu	37	4	154625962	154625962	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr4:154625962C>T	uc003inq.3	+	2	2122	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	TLR2_uc003inr.3_Missense_Mutation_p.P635S|TLR2_uc003ins.3_Missense_Mutation_p.P635S|TLR2_uc021xtl.1_Missense_Mutation_p.P635S	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	635					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAGGAAAGCTCCCAGCAGGAA	0.537													T	154625962	C	T	154625962	3	4	188	1	0	0	0	0	1	0	0	0	15948	855	30	3	1905	3	TLR2	4	154625962	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	84943996	154625962	36528314	15	13034											
CDH9	1007	broad.mit.edu	37	5	26902589	26902589	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:26902589T>A	uc003jgs.1	-	6	1418	c.1249A>T	c.(1249-1251)Ata>Tta	p.I417L		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	417	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACTTACTTTATTAAATTGTTC	0.308													A	26902589	T	A	26902589	3	1	188	1	0	0	0	0	1	0	0	0	3117	1493	52	5	1144	5	CDH9	5	26902589	Missense_Mutation	SNP	T	TCGA-27-1836-01A-01D-1494-08		26902589	154012671	16	13035											
SPEF2	79925	broad.mit.edu	37	5	35641735	35641735	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:35641735C>T	uc003jjo.3	+	2	475	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	SPEF2_uc003jjn.1_Missense_Mutation_p.R122C|SPEF2_uc003jjq.4_Missense_Mutation_p.R122C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	122					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R122H(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)			AACCATGCAACGTCTGACAAA	0.358													T	35641735	C	T	35641735	3	4	188	1	0	0	0	0	1	0	0	0	15034	536	19	1	374	1	SPEF2	5	35641735	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	8739146	35641735	145273525	17	13036											
EFNA5	1946	broad.mit.edu	37	5	106763058	106763058	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:106763058G>C	uc003kol.3	-	1	560	c.278C>G	c.(277-279)aCt>aGt	p.T93S	EFNA5_uc010jbr.1_Missense_Mutation_p.T93S	NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	93					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CCCTTTGGAAGTGTGGTCGCA	0.488													C	106763058	G	C	106763058	3	2	188	1	0	0	0	0	1	0	0	0	4954	1029	36	5	424	5	EFNA5	5	106763058	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	71121323	106763058	74152202	18	13037											
KIF4B	285643	broad.mit.edu	37	5	154396474	154396474	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:154396474G>A	uc010jih.1	+	0	3215	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1019	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCTTCTTTTGAATATATCCC	0.403													A	154396474	G	A	154396474	3	1	188	1	0	0	0	0	1	0	0	0	8304	1291	45	3	3057	3	KIF4B	5	154396474	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	47633416	154396474	26518786	19	13038											
SLIT3	6586	broad.mit.edu	37	5	168176560	168176560	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:168176560C>T	uc010jjg.3	-	18	2474	c.2054G>A	c.(2053-2055)aGt>aAt	p.S685N	SLIT3_uc003mab.3_Missense_Mutation_p.S685N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	685	LRRCT 3.				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			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)			AGGGTTCCCACTGACGATCCG	0.557													T	168176560	C	T	168176560	3	4	188	1	0	0	0	0	1	0	0	0	14741	565	20	3	2589	3	SLIT3	5	168176560	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	13780086	168176560	12738700	20	13039											
KIF13A	63971	broad.mit.edu	37	6	17788096	17788097	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:17788096_17788097delAA	uc003ncg.4	-	26	3431_3432	c.3271_3272delTT	c.(3271-3273)ttafs	p.L1091fs	KIF13A_uc003ncf.3_Frame_Shift_Del_p.L1078fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.L1091fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.L1078fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1091					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TACGCAGTTTAAGTCTTCTTCC	0.366													-	17788097	AA	-	17788096	7	5	188	1	0	1	0	1	0	0	0	0	8274	372	13	0	2222	0	KIF13A	6	17788096	Frame_Shift_Del	DEL	AA	TCGA-27-1836-01A-01D-1494-08		17788096	153326971	21	13040											
COL11A2	1302	broad.mit.edu	37	6	33143356	33143356	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:33143356C>T	uc003ocx.1	-	29	2599	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.E705K|COL11A2_uc003ocz.1_Missense_Mutation_p.E684K	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	791	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCACCTTCTCGCCCATGAGC	0.657													T	33143356	C	T	33143356	3	4	188	1	0	0	0	0	1	0	0	0	3668	893	31	2	2987	2	COL11A2	6	33143356	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	15355260	33143356	137971711	22	13041											
GPR31	2853	broad.mit.edu	37	6	167571202	167571202	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:167571202G>C	uc011egq.2	-	0	118	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	40						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACCCGGAACAGGAAGGTCCAC	0.662													C	167571202	G	C	167571202	3	2	188	1	0	0	0	0	1	0	0	0	6687	991	35	5	844	5	GPR31	6	167571202	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	134427846	167571202	3543865	23	13042											
TNKS	8658	broad.mit.edu	37	8	9565981	9565981	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:9565981G>A	uc003wss.3	+	8	1562	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	TNKS_uc011kwv.1_Silent_p.P519P|TNKS_uc011kww.2_Silent_p.P282P	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	519					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCAAACAACCGCAGTCTCATG	0.328													A	9565981	G	A	9565981	2	1	188	1	0	0	0	0	0	0	0	1	16316	1074	38	1		1	TNKS	8	9565981	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08		9565981	136798041	24	13043											
KIAA1429	25962	broad.mit.edu	37	8	95531632	95531632	+	Silent	SNP	A	A	G			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:95531632A>G	uc003ygo.2	-	8	2165	c.2094T>C	c.(2092-2094)ccT>ccC	p.P698P	KIAA1429_uc003ygp.3_Silent_p.P698P|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	698					mRNA processing|RNA splicing	nucleus				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)			GCAGCACACCAGGGTGAGCAC	0.388													G	95531632	A	G	95531632	2	3	188	1	0	0	0	0	0	0	0	1	8231	175	7	4		4	KIAA1429	8	95531632	Silent	SNP	A	TCGA-27-1836-01A-01D-1494-08	85965651	95531632	50832390	25	13044											
FOXH1	8928	broad.mit.edu	37	8	145700407	145700407	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:145700407C>T	uc003zdc.3	-	2	891	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	104					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD 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 factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGAAGTTGCCCTTGGCCTGGG	0.687													T	145700407	C	T	145700407	2	4	188	1	0	0	0	0	0	0	0	1	6008	680	24	3		3	FOXH1	8	145700407	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	50168775	145700407	663615	26	13045											
FAM102A	399665	broad.mit.edu	37	9	130710434	130710434	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:130710434C>T	uc004bsx.2	-	5	928	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	FAM102A_uc004bsw.1_Missense_Mutation_p.G36S|FAM102A_uc004bsy.1_5'UTR	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	178	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CTGGTCCCACCACCCTTACAC	0.612													T	130710434	C	T	130710434	3	4	188	1	0	0	0	0	1	0	0	0	5382	594	21	3	646	3	FAM102A	9	130710434	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		130710434	10502997	27	13046											
LAMC3	10319	broad.mit.edu	37	9	133947006	133947006	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:133947006C>T	uc004caa.1	+	17	3303	c.3205C>T	c.(3205-3207)Ctt>Ttt	p.L1069F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1069	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCATCACCTGCTTCCAGGTAC	0.672													T	133947006	C	T	133947006	3	4	188	1	0	0	0	0	1	0	0	0	8616	797	28	3	3275	3	LAMC3	9	133947006	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	3236572	133947006	7266425	28	13047											
MUC2	4583	broad.mit.edu	37	11	1094855	1094855	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:1094855C>T	uc001lsx.1	+	32	5958	c.5931C>T	c.(5929-5931)taC>taT	p.Y1977Y		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	2029						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACCTACTACGCACCAGGTA	0.607													T	1094855	C	T	1094855	2	4	188	1	0	0	0	0	0	0	0	1	9975	547	19	1		1	MUC2	11	1094855	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08		1094855	133911661	29	13048											
SLC22A10	387775	broad.mit.edu	37	11	63071595	63071595	+	Missense_Mutation	SNP	G	G	A	rs112720090		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:63071595G>A	uc009yor.3	+	7	1509	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	434						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGACCCTGCGTGTGGCTTTG	0.453													A	63071595	G	A	63071595	3	1	188	1	0	0	0	0	1	0	0	0	14441	1145	40	1	1331	1	SLC22A10	11	63071595	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	61976740	63071595	71934921	30	13049											
CABP4	57010	broad.mit.edu	37	11	67223870	67223870	+	Silent	SNP	C	C	T	rs139927588		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:67223870C>T	uc001olo.3	+	2	575	c.498C>T	c.(496-498)acC>acT	p.T166T	CABP4_uc001oln.3_Silent_p.T61T	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	166	EF-hand 2.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ACATGCCCACCGAGATGGAGC	0.652													T	67223870	C	T	67223870	2	4	188	1	0	0	0	0	0	0	0	1	2533	639	23	2		2	CABP4	11	67223870	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	4152275	67223870	67782646	31	13050											
CACNB3	784	broad.mit.edu	37	12	49218469	49218469	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr12:49218469C>T	uc001rsl.2	+	4	884	c.425C>T	c.(424-426)tCc>tTc	p.S142F	CACNB3_uc010slx.2_Missense_Mutation_p.S129F|CACNB3_uc010sly.2_Missense_Mutation_p.S129F|CACNB3_uc010slz.2_Missense_Mutation_p.S141F|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Missense_Mutation_p.S101F	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	142					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GGGAACCCTTCCAGCCTGAGT	0.493													T	49218469	C	T	49218469	3	4	188	1	0	0	0	0	1	0	0	0	2554	855	30	3	443	3	CACNB3	12	49218469	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		49218469	84633426	32	13051											
TP53	7157	broad.mit.edu	37	17	7578217	7578217	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:7578217G>A	uc002gim.2	-	5	826	c.632C>T	c.(631-633)aCt>aTt	p.T211I	TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.3_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I|TP53_uc010vug.2_Missense_Mutation_p.T172I|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	211	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (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.T211I(14)|p.T211T(9)|p.0?(8)|p.T211N(8)|p.T211fs*4(5)|p.?(5)|p.N210fs*37(4)|p.T211fs*5(3)|p.D207_R213delDDRNTFR(2)|p.R209fs*35(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.D208_V216delDRNTFRHSV(2)|p.N210S(2)|p.R209_R213delRNTFR(2)|p.T211A(2)|p.T211fs*28(2)|p.D207_V216del10(2)|p.T211S(2)|p.K164_P219del(1)|p.N210D(1)|p.E204_N210delEYLDDRN(1)|p.T211_F212insX(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.N210N(1)|p.N210H(1)|p.N210K(1)|p.N210T(1)|p.T211P(1)|p.R209fs*6(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)		ATGTCGAAAAGTGTTTCTGTC	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			A	7578217	G	A	7578217	3	1	188	1	0	0	0	0	1	0	0	0	16378	1029	36	3	662	3	TP53	17	7578217	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08		7578217	73616993	33	13052											
DNAH9	1770	broad.mit.edu	37	17	11672470	11672470	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:11672470G>A	uc002gne.3	+	37	7444	c.7376G>A	c.(7375-7377)cGt>cAt	p.R2459H	DNAH9_uc010coo.3_Missense_Mutation_p.R1753H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2459	AAA 3 (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			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)		GAGACCATCCGTGTGTGCTAC	0.612													A	11672470	G	A	11672470	3	1	188	1	0	0	0	0	1	0	0	0	4608	1145	40	1	7526	1	DNAH9	17	11672470	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	4094253	11672470	69522740	34	13053											
SMCR7	125170	broad.mit.edu	37	17	18167560	18167560	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:18167560A>G	uc010vxq.2	+	3	906	c.880A>G	c.(880-882)Atg>Gtg	p.M294V	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.M283V	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	283						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CCGGCCCAGCATGGCCTCGGA	0.667													G	18167560	A	G	18167560	3	3	188	1	0	0	0	0	1	0	0	0	14790	217	8	4	894	4	SMCR7	17	18167560	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08	6495090	18167560	63027650	35	13054											
CCDC144NL	339184	broad.mit.edu	37	17	20799291	20799291	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:20799291A>C	uc002gyf.3	-	0	163	c.43T>G	c.(43-45)Tct>Gct	p.S15A	AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.	15										large_intestine(3)|lung(3)|skin(1)	7						GGCTTCGGAGACCCCCCAGCC	0.647											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	20799291	A	C	20799291	3	2	188	1	0	0	0	0	1	0	0	0	2779	275	10	5	638	5	CCDC144NL	17	20799291	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08	2631731	20799291	60395919	36	13055											
KIF2B	84643	broad.mit.edu	37	17	51900492	51900492	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:51900492C>T	uc002iua.2	+	0	254	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	33					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCTACGTGGCGATCCAGCGC	0.552													T	51900492	C	T	51900492	3	4	188	1	0	0	0	0	1	0	0	0	8298	768	27	1	100	1	KIF2B	17	51900492	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	31101201	51900492	29294718	37	13056											
ENPP7	339221	broad.mit.edu	37	17	77705154	77705154	+	Missense_Mutation	SNP	G	G	A	rs150916536		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:77705154G>A	uc002jxa.3	+	1	273	c.253_splice	c.e1+1	p.G85_splice		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	85					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTGGTCACCGGTGAGTACTG	0.647													A	77705154	G	A	77705154	3	1	188	1	0	0	0	0	1	0	0	0	5135	1130	39	2	255	2	ENPP7	17	77705154	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	25804662	77705154	3490056	38	13057											
CELF5	60680	broad.mit.edu	37	19	3282231	3282231	+	Silent	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:3282231C>T	uc002lxm.3	+	6	895	c.858C>T	c.(856-858)aaC>aaT	p.N286N	CELF5_uc010dtj.2_Silent_p.N286N|CELF5_uc002lxl.2_Silent_p.N286N|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	286					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TCAGCCTCAACGGGCTGCCTG	0.647													T	3282231	C	T	3282231	2	4	188	1	0	0	0	0	0	0	0	1	3219	535	19	1		1	CELF5	19	3282231	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08		3282231	55846752	39	13058											
OR7A10	390892	broad.mit.edu	37	19	14951969	14951969	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:14951969A>T	uc002mzx.1	-	0	721	c.721T>A	c.(721-723)Tgt>Agt	p.C241S		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TGAGATGCACAGGTGGAAAAT	0.488													T	14951969	A	T	14951969	3	4	188	1	0	0	0	0	1	0	0	0	11214	188	7	5	212	5	OR7A10	19	14951969	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08	11669738	14951969	44177014	40	13059											
ZNF208	7757	broad.mit.edu	37	19	22156724	22156724	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:22156724C>T	uc021urr.1	-	3	1261	c.1112G>A	c.(1111-1113)tGt>tAt	p.C371Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											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)				GCATTCTTCACATTTGTAGGG	0.383													T	22156724	C	T	22156724	3	4	188	1	0	0	0	0	1	0	0	0	17763	478	17	3	2734	3	ZNF208	19	22156724	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	7204755	22156724	36972259	41	13060											
KLK6	5653	broad.mit.edu	37	19	51466663	51466663	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:51466663G>A	uc002puh.3	-	2	432	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R114C|KLK6_uc002puj.3_Missense_Mutation_p.R7C|KLK6_uc010ycn.2_Missense_Mutation_p.R7C|KLK6_uc002pul.3_Missense_Mutation_p.R114C|KLK6_uc002pum.3_Missense_Mutation_p.R7C	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	114	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTGGCTGGGCGTGCCAGGCGC	0.612													A	51466663	G	A	51466663	3	1	188	1	0	0	0	0	1	0	0	0	8408	1145	40	1	406	1	KLK6	19	51466663	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	29309939	51466663	7662320	42	13061											
NLRP11	204801	broad.mit.edu	37	19	56320357	56320357	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:56320357G>A	uc010ygf.2	-	4	2330	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	NLRP11_uc002qlz.3_Missense_Mutation_p.T441M|NLRP11_uc002qmb.3_Missense_Mutation_p.T441M|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	540							ATP binding	p.T540M(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATATGGTGCGTCAACTTTTC	0.448													A	56320357	G	A	56320357	3	1	188	1	0	0	0	0	1	0	0	0	10473	1145	40	1	1514	1	NLRP11	19	56320357	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	4853694	56320357	2808626	43	13062											
DIDO1	11083	broad.mit.edu	37	20	61512320	61512320	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr20:61512320G>A	uc002ydr.2	-	15	5300	c.4988C>T	c.(4987-4989)cCg>cTg	p.P1663L	DIDO1_uc002yds.2_Missense_Mutation_p.P1663L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1663					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGCAAGGCGGTGTGGGCAG	0.731													A	61512320	G	A	61512320	3	1	188	1	0	0	0	0	1	0	0	0	4522	1116	39	2	1738	2	DIDO1	20	61512320	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08		61512320	1513200	44	13063											
PLA2G3	50487	broad.mit.edu	37	22	31534350	31534350	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:31534350C>T	uc003aka.3	-	2	823	c.694G>A	c.(694-696)Gtg>Atg	p.V232M		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	232	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCACGCCCACGATGTCCGAG	0.617													T	31534350	C	T	31534350	3	4	188	1	0	0	0	0	1	0	0	0	12000	536	19	1	855	1	PLA2G3	22	31534350	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		31534350	19770216	45	13064											
TTLL12	23170	broad.mit.edu	37	22	43575872	43575872	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:43575872C>T	uc003bdq.3	-	3	743	c.681G>A	c.(679-681)tgG>tgA	p.W227*		NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	227					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCCTCAGGGGCCACAGCAGCG	0.672													T	43575872	C	T	43575872	4	4	188	1	0	0	0	0	0	1	0	0	16722	740	26	3	1297	3	TTLL12	22	43575872	Nonsense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	12041522	43575872	7728694	46	13065											
CELSR1	9620	broad.mit.edu	37	22	46931874	46931874	+	Silent	SNP	G	G	A			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:46931874G>A	uc003bhw.1	-	0	1194	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	398	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTGGAAGACGTCCCACGCGC	0.682													A	46931874	G	A	46931874	2	1	188	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46931874	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08	3356002	46931874	4372692	47	13066											
PPEF1	5475	broad.mit.edu	37	X	18797156	18797156	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:18797156A>T	uc004cyq.3	+	9	1068	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	PPEF1_uc004cyp.3_Missense_Mutation_p.Y196F|PPEF1_uc004cyr.3_Missense_Mutation_p.Y196F|PPEF1_uc004cys.3_Missense_Mutation_p.Y196F|PPEF1_uc011mja.2_Missense_Mutation_p.Y131F|PPEF1_uc011mjb.2_Missense_Mutation_p.Y140F	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	196	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.P195Q(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGGAACCCGTATGTTTTTAAT	0.408													T	18797156	A	T	18797156	3	4	188	1	0	0	0	0	1	0	0	0	12307	449	16	5	613	5	PPEF1	23	18797156	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08		18797156	136473404	48	13067											
GPR64	10149	broad.mit.edu	37	X	19025360	19025360	+	Frame_Shift_Del	DEL	G	G	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:19025360delG	uc004cyx.3	-	19	1924	c.1682delC	c.(1681-1683)ccgfs	p.P561fs	GPR64_uc004cze.3_Frame_Shift_Del_p.P531fs|GPR64_uc004cza.3_Frame_Shift_Del_p.P539fs|GPR64_uc004czf.3_Frame_Shift_Del_p.P523fs|GPR64_uc004cyy.3_Frame_Shift_Del_p.P558fs|GPR64_uc004czc.3_Frame_Shift_Del_p.P545fs|GPR64_uc004cyz.3_Frame_Shift_Del_p.P547fs|GPR64_uc004czb.3_Frame_Shift_Del_p.P561fs|GPR64_uc004czd.3_Frame_Shift_Del_p.P537fs|GPR64_uc004cyw.3_Frame_Shift_Del_p.P545fs|GPR64_uc010nfj.3_Intron	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	561					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CACCTGGCTCGGGTTGATGTG	0.502													-	19025360	G	-	19025360	7	5	188	1	0	1	0	1	0	0	0	0	6705	1116	39	0	1411	0	GPR64	23	19025360	Frame_Shift_Del	DEL	G	TCGA-27-1836-01A-01D-1494-08	228204	19025360	136245200	49	13068											
NXF5	55998	broad.mit.edu	37	X	101096651	101096651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:101096651delG	uc011mrk.1	-	4	595	c.235delC	c.(235-237)caafs	p.Q79fs	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	79	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CACACCTTTTGGTTCTCATCA	0.488													-	101096651	G	-	101096651	7	5	188	1	0	1	0	1	0	0	0	0	10786	1357	47	0	910	0	NXF5	23	101096651	Frame_Shift_Del	DEL	G	TCGA-27-1836-01A-01D-1494-08	82071291	101096651	54173909	50	13069											
F8	2157	broad.mit.edu	37	X	154159916	154159916	+	Missense_Mutation	SNP	G	G	A	rs137852435		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:154159916G>A	uc004fmt.3	-	13	2320	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	717	F5/8 type A 2.|Plastocyanin-like 4.		R -> L (in HEMA; mild).|R -> W (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTCTGTTCCGAAAGTCTGAG	0.423													A	154159916	G	A	154159916	3	1	188	1	0	0	0	0	1	0	0	0	5350	1057	37	2	4986	2	F8	23	154159916	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	53063265	154159916	1110644	51	13070											
CYP4X1	260293	broad.mit.edu	37	1	47501571	47501571	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:47501571G>A	uc001cqt.3	+	4	836	c.586G>A	c.(586-588)Gct>Act	p.A196T	CYP4X1_uc001cqr.3_Missense_Mutation_p.A195T|CYP4X1_uc001cqs.3_Missense_Mutation_p.A131T	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	196						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATGAAATGCGCTTTCAGCAA	0.428													A	47501571	G	A	47501571	3	1	189	1	0	0	0	0	1	0	0	0	4193	1087	38	1	604	1	CYP4X1	1	47501571	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08		47501571	201749050	1	13071											
SETDB1	9869	broad.mit.edu	37	1	150936730	150936730	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:150936730C>T	uc001evu.2	+	21	3956	c.3766C>T	c.(3766-3768)Cgg>Tgg	p.R1256W	SETDB1_uc001evv.2_Missense_Mutation_p.R1255W	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	1256	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAAGAATCCGGGCTGGGAC	0.507													T	150936730	C	T	150936730	3	4	189	1	0	0	0	0	1	0	0	0	14138	643	23	2	3848	2	SETDB1	1	150936730	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	103435159	150936730	98313891	2	13072											
FDPS	2224	broad.mit.edu	37	1	155288033	155288033	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:155288033A>G	uc001fkc.2	+	5	854	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	FDPS_uc021paw.1_Missense_Mutation_p.Y146C|FDPS_uc001fkd.2_Missense_Mutation_p.Y146C|FDPS_uc021pax.1_Missense_Mutation_p.Y41C|FDPS_uc001fke.2_Missense_Mutation_p.Y212C|RUSC1-AS1_uc001fkh.1_Intron|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	212					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGAAGCTCTATTGCCGGGAG	0.552													G	155288033	A	G	155288033	3	3	189	1	0	0	0	0	1	0	0	0	5803	449	16	4	653	4	FDPS	1	155288033	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08	4351303	155288033	93962588	3	13073											
TPR	7175	broad.mit.edu	37	1	186310460	186310460	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:186310460A>G	uc001grv.3	-	27	4109	c.3812T>C	c.(3811-3813)gTa>gCa	p.V1271A	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1271					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCCATAACTACATTCATTGT	0.343			T	NTRK1	papillary thyroid								G	186310460	A	G	186310460	3	3	189	1	0	0	0	0	1	0	0	0	16413	391	14	4	3375	4	TPR	1	186310460	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08	31022427	186310460	62940161	4	13074											
DPYSL5	56896	broad.mit.edu	37	2	27151139	27151139	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr2:27151139T>C	uc002rhu.4	+	4	775	c.617T>C	c.(616-618)cTg>cCg	p.L206P	DPYSL5_uc002rhv.4_Missense_Mutation_p.L206P|DPYSL5_uc021vev.1_Missense_Mutation_p.L206P	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	206					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGAGGCACTGGATTTGGGG	0.478													C	27151139	T	C	27151139	3	2	189	1	0	0	0	0	1	0	0	0	4750	1580	55	4	631	4	DPYSL5	2	27151139	Missense_Mutation	SNP	T	TCGA-27-1837-01A-01D-1494-08		27151139	216048234	5	13075											
ALPPL2	251	broad.mit.edu	37	2	233274470	233274470	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr2:233274470C>T	uc002vss.4	+	10	1540	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	496					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGCGACCTGGCGCCCCGCGCC	0.736													T	233274470	C	T	233274470	3	4	189	1	0	0	0	0	1	0	0	0	549	768	27	1	1529	1	ALPPL2	2	233274470	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	206123331	233274470	9924903	6	13076											
CCDC12	151903	broad.mit.edu	37	3	46965117	46965117	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:46965117C>T	uc011baq.2	-	3	334	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CCDC12_uc003cqo.2_Missense_Mutation_p.E109K	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	Homo sapiens coiled-coil domain containing 12 (CCDC12), mRNA.	96										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		ATGACGGGCTCGGGCTTGGCG	0.607											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46965117	C	T	46965117	3	4	189	1	0	0	0	0	1	0	0	0	2755	893	31	2	230	2	CCDC12	3	46965117	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		46965117	151057313	7	13077											
OR5H1	26341	broad.mit.edu	37	3	97851850	97851850	+	Silent	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:97851850G>A	uc011bgt.2	+	0	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103S(2)|p.S103L(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGTTTTTTTCGTTTGCAATCA	0.388													A	97851850	G	A	97851850	2	1	189	1	0	0	0	0	0	0	0	1	11159	1132	40	1		1	OR5H1	3	97851850	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08	50886733	97851850	100170580	8	13078											
SOX14	8403	broad.mit.edu	37	3	137484038	137484038	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:137484038C>G	uc003erm.2	+	0	905	c.412C>G	c.(412-414)Ctg>Gtg	p.L138V		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	138					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						GCCCTACTCCCTGCTGGACCC	0.721													G	137484038	C	G	137484038	3	3	189	1	0	0	0	0	1	0	0	0	14945	680	24	5	414	5	SOX14	3	137484038	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	39632188	137484038	60538392	9	13079											
UGT2B28	54490	broad.mit.edu	37	4	70148376	70148376	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr4:70148376C>A	uc003hej.3	+	1	868	c.866C>A	c.(865-867)cCt>cAt	p.P289H	UGT2B28_uc010ihr.3_Missense_Mutation_p.P289H	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	289					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAACCCCTACCTAAGGTAAAC	0.383													A	70148376	C	A	70148376	3	1	189	1	0	0	0	0	1	0	0	0	16957	681	24	5	872	5	UGT2B28	4	70148376	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		70148376	121005900	10	13080											
ENPEP	2028	broad.mit.edu	37	4	111398043	111398043	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr4:111398043G>A	uc003iab.4	+	0	815	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	158					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GTGCAAGTCCGGAGGTGTTTC	0.627													A	111398043	G	A	111398043	3	1	189	1	0	0	0	0	1	0	0	0	5128	1116	39	2	475	2	ENPEP	4	111398043	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	41249667	111398043	79756233	11	13081											
PCDHB15	56121	broad.mit.edu	37	5	140626805	140626805	+	Silent	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140626805C>T	uc003lje.3	+	0	1659	c.1659C>T	c.(1657-1659)gaC>gaT	p.D553D		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	553	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D553D(2)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.711													T	140626805	C	T	140626805	2	4	189	1	0	0	0	0	0	0	0	1	11540	535	19	1		1	PCDHB15	5	140626805	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		140626805	40288455	12	13082											
PCDHGC5	56103	broad.mit.edu	37	5	140740727	140740727	+	Missense_Mutation	SNP	A	A	C	rs150123769	by1000genomes	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140740727A>C	uc003ljs.2	+	0	1025	c.1025A>C	c.(1024-1026)gAt>gCt	p.D342A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.D342A	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	345	Cadherin 3.				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)			GATGACAACGATTGTGCACCT	0.448													C	140740727	A	C	140740727	3	2	189	1	0	0	0	0	1	0	0	0	11571	333	12	5		5	PCDHGC5	5	140740727	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08	113922	140740727	40174533	13	13083											
PCDHGC5	56105	broad.mit.edu	37	5	140802685	140802685	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140802685C>T	uc003lkq.2	+	0	2149	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.R631W|PCDHGC5_uc003lkp.2_Intron	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	632	Cadherin 6.				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)			GCGTACAGCGCGGGCACTGCT	0.687													T	140802685	C	T	140802685	3	4	189	1	0	0	0	0	1	0	0	0	11571	759	27	1		1	PCDHGC5	5	140802685	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	61958	140802685	40112575	14	13084											
SGK1	6446	broad.mit.edu	37	6	134582969	134582969	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr6:134582969C>T	uc003qep.3	-	1	985	c.387G>A	c.(385-387)atG>atA	p.M129I	SGK1_uc003qeo.4_Intron			O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 2, mRNA.	0	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TATAAATATGCATTAAAAAAT	0.313													T	134582969	C	T	134582969	3	4	189	1	0	0	0	0	1	0	0	0	14207	725	25	3		3	SGK1	6	134582969	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		134582969	36532098	15	13085											
ABCA13	154664	broad.mit.edu	37	7	48412010	48412010	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:48412010C>A	uc003toq.2	+	32	11073	c.11049C>A	c.(11047-11049)agC>agA	p.S3683R	ABCA13_uc010kys.1_Missense_Mutation_p.S757R|ABCA13_uc003tos.1_Missense_Mutation_p.S509R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3683					transport	integral to membrane	ATP binding|ATPase activity			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						TTTGTACCAGCCTGGTGTACA	0.403													A	48412010	C	A	48412010	3	1	189	1	0	0	0	0	1	0	0	0	31	738	26	5	11008	5	ABCA13	7	48412010	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		48412010	110726653	16	13086											
SEMA3C	10512	broad.mit.edu	37	7	80456743	80456743	+	Missense_Mutation	SNP	T	T	G	rs13310887		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:80456743T>G	uc011kgw.2	-	3	458	c.379A>C	c.(379-381)Aca>Cca	p.T127P	SEMA3C_uc003uhj.3_Missense_Mutation_p.T109P|SEMA3C_uc011kgx.1_Intron	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	109	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACACTTACTGTGGGATCTTTG	0.338													G	80456743	T	G	80456743	3	3	189	1	0	0	0	0	1	0	0	0	14026	1696	59	5	1990	5	SEMA3C	7	80456743	Missense_Mutation	SNP	T	TCGA-27-1837-01A-01D-1494-08	32044733	80456743	78681920	17	13087											
GRM3	2913	broad.mit.edu	37	7	86415951	86415951	+	Silent	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:86415951G>A	uc003uid.3	+	2	1942	c.843G>A	c.(841-843)tcG>tcA	p.S281S	GRM3_uc010lef.3_Silent_p.S279S|GRM3_uc010leg.3_Silent_p.S153S|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	281					synaptic transmission	integral to plasma membrane		p.D280N(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCGACGACTCGCGGGAGCTCA	0.662													A	86415951	G	A	86415951	2	1	189	1	0	0	0	0	0	0	0	1	6798	1074	38	1		1	GRM3	7	86415951	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08	5959208	86415951	72722712	18	13088											
EMID2	136227	broad.mit.edu	37	7	101063350	101063350	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:101063350G>A	uc010lhy.1	+	1	443	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	EMID2_uc003uyo.1_Missense_Mutation_p.R84Q	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	84	EMI.					collagen		p.C83S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					CAGAGCTGCCGGTGGCCGGGG	0.647													A	101063350	G	A	101063350	3	1	189	1	0	0	0	0	1	0	0	0	5092	1116	39	2	257	2	EMID2	7	101063350	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	14647399	101063350	58075313	19	13089											
FBXL13	222235	broad.mit.edu	37	7	102604030	102604030	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:102604030C>T	uc003vaq.2	-	7	1101	c.674G>A	c.(673-675)cGt>cAt	p.R225H	FBXL13_uc010liq.1_Missense_Mutation_p.R40H|FBXL13_uc010lir.1_Missense_Mutation_p.R225H|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.R225H|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	225										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AAAATTCAAACGCAGCACATT	0.328													T	102604030	C	T	102604030	3	4	189	1	0	0	0	0	1	0	0	0	5709	536	19	1	1585	1	FBXL13	7	102604030	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	1540680	102604030	56534633	20	13090											
RELN	5649	broad.mit.edu	37	7	103368566	103368566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:103368566G>A	uc022ajr.1	-	6	905	c.745C>T	c.(745-747)Cga>Tga	p.R249*	RELN_uc022ajq.1_Nonsense_Mutation_p.R249*|RELN_uc010liz.3_Nonsense_Mutation_p.R249*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	249					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.R249L(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)		ACCAGTTCTCGTGGGCCATAT	0.408													A	103368566	G	A	103368566	4	1	189	1	0	0	0	0	0	1	0	0	13220	1153	40	1	9873	1	RELN	7	103368566	Nonsense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	764536	103368566	55770097	21	13091											
CSMD1	64478	broad.mit.edu	37	8	3216774	3216774	+	Silent	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr8:3216774C>T	uc022aqr.1	-	20	3594	c.3204G>A	c.(3202-3204)acG>acA	p.T1068T	CSMD1_uc011kwj.2_Silent_p.T461T|CSMD1_uc003wqe.3_Silent_p.T225T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1069	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCAGGAAAACGTCAGAGAGT	0.552													T	3216774	C	T	3216774	2	4	189	1	0	0	0	0	0	0	0	1	3944	523	19	1		1	CSMD1	8	3216774	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		3216774	143147248	22	13092											
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr9:12702411_12702414delACAA	uc003zkv.4	+	4	1232_1235	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.T352fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(4)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				-	12702414	ACAA	-	12702411	7	5	189	1	0	1	0	1	0	0	0	0	16813	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-27-1837-01A-01D-1494-08		12702411	128511020	23	13093											
C9orf80	58493	broad.mit.edu	37	9	115451883	115451883	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr9:115451883C>A	uc004bgg.3	-	3	320	c.143G>T	c.(142-144)aGa>aTa	p.R48I	C9orf80_uc010muk.3_Intron	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	48					DNA repair|response to ionizing radiation	SOSS complex	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						AAGAGAGGGTCTCGAGAGTGC	0.428													A	115451883	C	A	115451883	3	1	189	1	0	0	0	0	1	0	0	0	2498	913	32	5	179	5	C9orf80	9	115451883	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	102749472	115451883	25761548	24	13094											
MYO3A	53904	broad.mit.edu	37	10	26482157	26482157	+	Missense_Mutation	SNP	A	A	G	rs34204285	by1000genomes	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr10:26482157A>G	uc001isn.2	+	31	4822	c.4462A>G	c.(4462-4464)Aaa>Gaa	p.K1488E	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1488			K -> E (in dbSNP:rs34204285).		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			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						AGAGGAGCCAAAAATATTGAG	0.358													G	26482157	A	G	26482157	3	3	189	1	0	0	0	0	1	0	0	0	10076	15	1	4	4580	4	MYO3A	10	26482157	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08		26482157	109052590	25	13095											
PTEN	5728	broad.mit.edu	37	10	89720679	89720679	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr10:89720679C>T	uc001kfb.3	+	7	1862	c.830C>T	c.(829-831)aCa>aTa	p.T277I	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	277	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T277I(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N276fs*15(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277fs*13(1)|p.N276K(1)|p.T277A(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGGTAAATACATTCTTCATA	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720679	C	T	89720679	3	4	189	1	0	0	0	0	1	0	0	0	12738	478	17	3	860	3	PTEN	10	89720679	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	63238522	89720679	45814068	26	13096											
MUC5B	727897	broad.mit.edu	37	11	1155150	1155150	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:1155150C>T	uc021qbr.1	+	2	205	c.158C>T	c.(157-159)cCg>cTg	p.P53L				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	58					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAGGGGTCCCGCTCCGTGGG	0.667													T	1155150	C	T	1155150	3	4	189	1	0	0	0	0	1	0	0	0	9979	667	23	2		2	MUC5B	11	1155150	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		1155150	133851366	27	13097											
OR4D5	219875	broad.mit.edu	37	11	123811011	123811011	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:123811011C>T	uc001pzk.1	+	0	688	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R230R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGCCACTCACGGGAGGGCCG	0.522													T	123811011	C	T	123811011	3	4	189	1	0	0	0	0	1	0	0	0	11057	527	19	1	690	1	OR4D5	11	123811011	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	122655861	123811011	11195505	28	13098											
ADAMTS15	170689	broad.mit.edu	37	11	130343595	130343595	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:130343595G>A	uc010scd.2	+	7	2732	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	911	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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)		AGCTGCGGCCGGGGATTTCAG	0.682													A	130343595	G	A	130343595	3	1	189	1	0	0	0	0	1	0	0	0	260	1116	39	2	2762	2	ADAMTS15	11	130343595	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	6532584	130343595	4662921	29	13099											
CLSTN3	9746	broad.mit.edu	37	12	7302219	7302219	+	Silent	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:7302219C>T	uc001qss.3	+	12	2749	c.2211C>T	c.(2209-2211)ctC>ctT	p.L737L	CLSTN3_uc001qsr.3_Silent_p.L725L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	725					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AAAGCCTGCTCCTGGACACAA	0.582													T	7302219	C	T	7302219	2	4	189	1	0	0	0	0	0	0	0	1	3563	842	30	3		3	CLSTN3	12	7302219	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		7302219	126549676	30	13100											
ACSM4	341392	broad.mit.edu	37	12	7477186	7477186	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:7477186C>T	uc001qsx.1	+	10	1528	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	510					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R510R(1)		endometrium(6)|kidney(1)|lung(14)	21						AGATCAAATCCGCGGAGAGGT	0.438													T	7477186	C	T	7477186	3	4	189	1	0	0	0	0	1	0	0	0	186	652	23	2	1570	2	ACSM4	12	7477186	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	174967	7477186	126374709	31	13101											
TUBA1A	7846	broad.mit.edu	37	12	49578914	49578914	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:49578914C>T	uc009zlf.3	-	3	1507	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	TUBA1A_uc001rtp.3_Missense_Mutation_p.G412E	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	412					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TTCCTCCATCCCCTCCCCAAC	0.547													T	49578914	C	T	49578914	3	4	189	1	0	0	0	0	1	0	0	0	16740	623	22	3	124	3	TUBA1A	12	49578914	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	42101728	49578914	84272981	32	13102											
GLTP	51228	broad.mit.edu	37	12	110290512	110290512	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:110290512C>T	uc001tpm.3	-	4	592	c.478G>A	c.(478-480)Gac>Aac	p.D160N		NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	Homo sapiens glycolipid transfer protein (GLTP), mRNA.	160						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TTCAGGAAGTCAGACTTATAG	0.587											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	110290512	C	T	110290512	3	4	189	1	0	0	0	0	1	0	0	0	6471	826	29	3	155	3	GLTP	12	110290512	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	60711598	110290512	23561383	33	13103											
IQCH	64799	broad.mit.edu	37	15	67664811	67664811	+	Silent	SNP	C	C	T	rs111681102	byFrequency	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr15:67664811C>T	uc002aqo.2	+	8	1213	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	IQCH_uc010ujv.2_Silent_p.A191A|IQCH_uc002aqn.2_Silent_p.A199A|IQCH_uc002aqp.2_Silent_p.A124A|IQCH_uc002aqq.2_Silent_p.A120A	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	372	IQ.									NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATTCGGAGGCCGCCATGAAGA	0.468													T	67664811	C	T	67664811	2	4	189	1	0	0	0	0	0	0	0	1	7811	639	23	2		2	IQCH	15	67664811	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		67664811	34866581	34	13104											
ZKSCAN2	342357	broad.mit.edu	37	16	25251329	25251329	+	Silent	SNP	T	T	C			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr16:25251329T>C	uc002dod.4	-	6	3119	c.2712A>G	c.(2710-2712)gaA>gaG	p.E904E	ZKSCAN2_uc010vcl.2_Silent_p.E700E	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	904					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCTCCGATGTTCTCGAAATC	0.458													C	25251329	T	C	25251329	2	2	189	1	0	0	0	0	0	0	0	1	17684	1722	60	4		4	ZKSCAN2	16	25251329	Silent	SNP	T	TCGA-27-1837-01A-01D-1494-08		25251329	65103424	35	13105											
ZNF48	197407	broad.mit.edu	37	16	30409511	30409511	+	Missense_Mutation	SNP	C	C	T	rs141362652		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr16:30409511C>T	uc002dya.2	+	1	1316	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	ZNF48_uc021tgi.1_Missense_Mutation_p.R314W|ZNF48_uc021tgj.1_Missense_Mutation_p.R191W|ZNF48_uc021tgk.1_Missense_Mutation_p.R314W	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGAGTTTGCCCGGGGATCCGA	0.622													T	30409511	C	T	30409511	3	4	189	1	0	0	0	0	1	0	0	0	17931	643	23	2	946	2	ZNF48	16	30409511	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	5158182	30409511	59945242	36	13106											
WDR81	124997	broad.mit.edu	37	17	1634533	1634533	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:1634533C>G	uc002ftj.2	+	3	4267	c.4138C>G	c.(4138-4140)Ctc>Gtc	p.L1380V	WDR81_uc002fth.2_Missense_Mutation_p.L329V|WDR81_uc010vqp.1_Missense_Mutation_p.L177V|WDR81_uc002fti.2_Missense_Mutation_p.L153V|WDR81_uc010vqq.1_Intron	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	153										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTCAGCTTCCTCACCTCCCT	0.647													G	1634533	C	G	1634533	3	3	189	1	0	0	0	0	1	0	0	0	17327	681	24	5	4214	5	WDR81	17	1634533	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		1634533	79560677	37	13107											
NCOR1	9611	broad.mit.edu	37	17	16062148	16062148	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:16062148C>T	uc002gpo.3	-	5	927	c.658G>A	c.(658-660)Gag>Aag	p.E220K	NCOR1_uc002gpn.3_Missense_Mutation_p.E220K|NCOR1_uc002gpp.1_Missense_Mutation_p.E111K|NCOR1_uc002gpr.3_Missense_Mutation_p.E111K|NCOR1_uc002gps.2_Missense_Mutation_p.E220K|NCOR1_uc010cpb.2_Missense_Mutation_p.E220K|NCOR1_uc010coz.2_Missense_Mutation_p.E36K|NCOR1_uc010cpa.2_Missense_Mutation_p.E220K	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	220	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACGGGCTTCTCAGGCTCAGGA	0.488													T	16062148	C	T	16062148	3	4	189	1	0	0	0	0	1	0	0	0	10235	835	29	3	6828	3	NCOR1	17	16062148	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	14427615	16062148	65133062	38	13108											
SLC4A1	6521	broad.mit.edu	37	17	42335476	42335476	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:42335476C>T	uc002igf.4	-	10	1309	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	387					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.R387W(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTAGCGGCGCCGGATATCACG	0.587													T	42335476	C	T	42335476	3	4	189	1	0	0	0	0	1	0	0	0	14650	652	23	2	1615	2	SLC4A1	17	42335476	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	26273328	42335476	38859734	39	13109											
ABCA5	23461	broad.mit.edu	37	17	67290837	67290837	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:67290837T>G	uc002jif.2	-	9	2672	c.1454A>C	c.(1453-1455)aAg>aCg	p.K485T	ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.K485T|ABCA5_uc002jih.2_Missense_Mutation_p.K485T|ABCA5_uc010dfe.2_Missense_Mutation_p.K485T	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	485	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTGTATGTCTTCTGAATACC	0.264													G	67290837	T	G	67290837	3	3	189	1	0	0	0	0	1	0	0	0	35	1609	56	5	3590	5	ABCA5	17	67290837	Missense_Mutation	SNP	T	TCGA-27-1837-01A-01D-1494-08	24955361	67290837	13904373	40	13110											
CLDN14	23562	broad.mit.edu	37	21	37833394	37833394	+	Silent	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr21:37833394G>A	uc021wja.1	-	0	600	c.600C>T	c.(598-600)gcC>gcT	p.A200A	CLDN14_uc002yvn.1_Silent_p.A200A|CLDN14_uc002yvo.1_Silent_p.A200A|CLDN14_uc002yvk.1_Silent_p.A200A|CLDN14_uc002yvl.1_Silent_p.A200A|CLDN14_uc002yvm.1_Silent_p.A200A	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	200					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGGTCGTGGTGGCCCTGGGCG	0.652													A	37833394	G	A	37833394	2	1	189	1	0	0	0	0	0	0	0	1	3475	1335	47	3		3	CLDN14	21	37833394	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08		37833394	10296501	41	13111											
RFPL1	5988	broad.mit.edu	37	22	29834818	29834818	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr22:29834818C>T	uc003afn.3	+	0	247	c.38C>T	c.(37-39)tCa>tTa	p.S13L	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	13							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AACAGGCTTTCACCTCACGGA	0.463													T	29834818	C	T	29834818	3	4	189	1	0	0	0	0	1	0	0	0	13253	838	29	3	40	3	RFPL1	22	29834818	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		29834818	21469748	42	13112											
SPIN2B	474343	broad.mit.edu	37	X	57146697	57146697	+	Silent	SNP	G	G	A			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chrX:57146697G>A	uc004duy.3	-	1	625	c.366C>T	c.(364-366)gcC>gcT	p.A122A	SPIN2B_uc004duz.3_Silent_p.A122A|SPIN2B_uc004dva.3_Silent_p.A122A|SPIN2B_uc022bxw.1_Silent_p.A122A|SPIN2B_uc011mor.1_Non-coding_Transcript	NM_001006682	NP_001006684	Q9BPZ2	SPI2B_HUMAN	Homo sapiens spindlin family, member 2B (SPIN2B), transcript variant 2, mRNA.	122					apoptosis|cell cycle|gamete generation	nucleus				endometrium(3)|large_intestine(1)|skin(1)	5						TTGCAAGGTTGGCATCACTAA	0.433													A	57146697	G	A	57146697	2	1	189	1	0	0	0	0	0	0	0	1	15053	1335	47	3		3	SPIN2B	23	57146697	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08		57146697	98123863	43	13113											
EPHA8	2046	broad.mit.edu	37	1	22927229	22927229	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:22927229T>C	uc001bfx.1	+	13	2589	c.2464T>C	c.(2464-2466)Tgg>Cgg	p.W822R		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	822	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGCGACGTGTGGAGCTTCGG	0.657													C	22927229	T	C	22927229	3	2	190	1	0	0	0	0	1	0	0	0	5173	1696	59	4	2691	4	EPHA8	1	22927229	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08		22927229	226323392	1	13114											
ABCD3	5825	broad.mit.edu	37	1	94965170	94965170	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:94965170G>A	uc010oto.2	+	21	1914	c.1812_splice	c.e21+1	p.A604_splice	ABCD3_uc001dqn.4_Splice_Site_p.A580_splice|ABCD3_uc010otp.2_Splice_Site_p.A507_splice|ABCD3_uc009wdr.3_Splice_Site_p.A470_splice|ABCD3_uc001dqo.4_Splice_Site_p.A268_splice	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	580	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AAAGAATGGCGGTAAGTATAC	0.418													A	94965170	G	A	94965170	2	1	190	1	0	0	0	0	0	0	0	1	62	1130	39	2		2	ABCD3	1	94965170	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	72037941	94965170	154285451	2	13115											
FCRL5	83416	broad.mit.edu	37	1	157490328	157490328	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:157490328G>A	uc009wsm.3	-	11	2683	c.2525C>T	c.(2524-2526)gCg>gTg	p.A842V	FCRL5_uc001fqu.3_Missense_Mutation_p.A842V	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	842						integral to membrane|plasma membrane	receptor activity			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)				ACTTCTGTTCGCGGTCAGCCC	0.657													A	157490328	G	A	157490328	3	1	190	1	0	0	0	0	1	0	0	0	5798	1087	38	1	432	1	FCRL5	1	157490328	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	62525158	157490328	91760293	3	13116											
SPTA1	6708	broad.mit.edu	37	1	158615013	158615013	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:158615013G>A	uc001fst.1	-	28	4358	c.4159C>T	c.(4159-4161)Cgc>Tgc	p.R1387C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1387					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCTTCTTGCGTTTTTCCCAA	0.433													A	158615013	G	A	158615013	3	1	190	1	0	0	0	0	1	0	0	0	15115	1145	40	1	3196	1	SPTA1	1	158615013	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	1124685	158615013	90635608	4	13117											
CFH	10877	broad.mit.edu	37	1	196887346	196887346	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:196887346G>T	uc001gtp.3	+	9	1684	c.1547G>T	c.(1546-1548)tGt>tTt	p.C516F	CFH_uc021pgt.1_Missense_Mutation_p.C139F|CFH_uc009wyy.3_Missense_Mutation_p.C515F|CFH_uc001gto.3_Missense_Mutation_p.C269F	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	868	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCAGATCCATGTATAATAACT	0.264													T	196887346	G	T	196887346	3	4	190	1	0	0	0	0	1	0	0	0	3283	1377	48	5		5	CFH	1	196887346	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	38272333	196887346	52363275	5	13118											
OR2AK2	391191	broad.mit.edu	37	1	248129572	248129572	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:248129572G>A	uc010pzd.2	+	0	939	c.939G>A	c.(937-939)acG>acA	p.T313T	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T313T(2)|p.T313S(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)			AGGAAGTGACGGGGGCAGTGA	0.433													A	248129572	G	A	248129572	2	1	190	1	0	0	0	0	0	0	0	1	10986	1103	39	2		2	OR2AK2	1	248129572	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	51242226	248129572	1121049	6	13119											
ALLC	55821	broad.mit.edu	37	2	3727515	3727515	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:3727515G>A	uc010ewt.3	+	4	390	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	96							allantoicase activity	p.D76N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGCTTCGACGTGGACGTTTC	0.547										HNSCC(21;0.051)			A	3727515	G	A	3727515	3	1	190	1	0	0	0	0	1	0	0	0	534	1145	40	1	243	1	ALLC	2	3727515	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		3727515	239471858	7	13120											
RAD51AP2	729475	broad.mit.edu	37	2	17696534	17696534	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:17696534C>A	uc002rcl.1	-	0	3173	c.3149G>T	c.(3148-3150)tGg>tTg	p.W1050L	RAD51AP2_uc010exn.1_Missense_Mutation_p.W1041L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1050										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACAGTTTTCCATTTAAATAA	0.368													A	17696534	C	A	17696534	3	1	190	1	0	0	0	0	1	0	0	0	12987	595	21	5	342	5	RAD51AP2	2	17696534	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	13969019	17696534	225502839	8	13121											
MSH6	2956	broad.mit.edu	37	2	48026087	48026087	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:48026087C>T	uc002rwd.4	+	3	1117	c.965C>T	c.(964-966)gCc>gTc	p.A322V	MSH6_uc002rwc.2_Missense_Mutation_p.A322V|MSH6_uc010fbj.3_Missense_Mutation_p.A20V|MSH6_uc010yoj.2_Missense_Mutation_p.A20V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	322					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACGCCCTCAGCCACCAAACAA	0.473			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				T	48026087	C	T	48026087	3	4	190	1	0	0	0	0	1	0	0	0	9874	739	26	3	979	3	MSH6	2	48026087	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	30329553	48026087	195173286	9	13122											
TSGA10	80705	broad.mit.edu	37	2	99634812	99634812	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:99634812C>T	uc002szg.4	-	18	2551	c.1923_splice	c.e18-1	p.R641_splice	TSGA10_uc002szh.4_Splice_Site_p.R641_splice|TSGA10_uc002szi.4_Splice_Site_p.R641_splice|TSGA10_uc010fin.1_Splice_Site_p.R641_splice	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	641	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CGGCCCTCTCCCTAAAGCAAA	0.323													T	99634812	C	T	99634812	2	4	190	1	0	0	0	0	0	0	0	1	16614	637	22	3		3	TSGA10	2	99634812	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	51608725	99634812	143564561	10	13123											
IL1R1	3554	broad.mit.edu	37	2	102789175	102789175	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:102789175A>T	uc002tbq.3	+	8	1186	c.868A>T	c.(868-870)Agt>Tgt	p.S290C	IL1R1_uc010fix.3_Missense_Mutation_p.S290C|IL1R1_uc002tbr.3_Missense_Mutation_p.S290C	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	290	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAAAAGAAGGAGTACCCTCAT	0.348													T	102789175	A	T	102789175	3	4	190	1	0	0	0	0	1	0	0	0	7658	304	11	5	894	5	IL1R1	2	102789175	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	3154363	102789175	140410198	11	13124											
SLC9A4	389015	broad.mit.edu	37	2	103141556	103141556	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:103141556G>A	uc002tbz.4	+	9	2349	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	631					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCCGCCGCCAGAACACC	0.507													A	103141556	G	A	103141556	3	1	190	1	0	0	0	0	1	0	0	0	14716	1087	38	1	1930	1	SLC9A4	2	103141556	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	352381	103141556	140057817	12	13125											
XIRP2	129446	broad.mit.edu	37	2	168103543	168103543	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:168103543C>T	uc002udx.3	+	8	5730	c.5641C>T	c.(5641-5643)Cga>Tga	p.R1881*	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.R1706*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.R1659*|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1706					actin cytoskeleton organization	cell junction	actin binding			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						ATCAAGCCATCGATGGAAAGA	0.378													T	168103543	C	T	168103543	4	4	190	1	0	0	0	0	0	1	0	0	17427	876	31	2	5671	2	XIRP2	2	168103543	Nonsense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	64961987	168103543	75095830	13	13126											
TTN	7273	broad.mit.edu	37	2	179431526	179431526	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:179431526G>A	uc021vsy.1	-	274	71854	c.71629C>T	c.(71629-71631)Cgt>Tgt	p.R23877C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R17572C|TTN_uc021vta.1_Missense_Mutation_p.R17505C|TTN_uc021vtb.1_Missense_Mutation_p.R17380C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24804	Ig-like 120.						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)			ACTCTTAGACGCAAATCTGTA	0.408													A	179431526	G	A	179431526	3	1	190	1	0	0	0	0	1	0	0	0	16732	1087	38	1	28794	1	TTN	2	179431526	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	11327983	179431526	63767847	14	13127											
TRIM71	131405	broad.mit.edu	37	3	32932739	32932739	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:32932739G>A	uc003cff.3	+	3	2106	c.2043G>A	c.(2041-2043)acG>acA	p.T681T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	681					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGATCTTCACGTTCGAGGGCC	0.582													A	32932739	G	A	32932739	2	1	190	1	0	0	0	0	0	0	0	1	16541	1132	40	1		1	TRIM71	3	32932739	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08		32932739	165089691	15	13128											
AMIGO3	386724	broad.mit.edu	37	3	49756785	49756785	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:49756785A>G	uc003cxj.3	-	0	454	c.114T>C	c.(112-114)tgT>tgC	p.C38C	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	38	LRRNT.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGCAGATACATTTGTAGG	0.647											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	49756785	A	G	49756785	2	3	190	1	0	0	0	0	0	0	0	1	577	389	14	4		4	AMIGO3	3	49756785	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	16824046	49756785	148265645	16	13129											
HTR1F	3355	broad.mit.edu	37	3	88040099	88040099	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:88040099T>A	uc003dqr.2	+	1	358	c.200T>A	c.(199-201)gTc>gAc	p.V67D	HTR1F_uc021xbd.1_Missense_Mutation_p.V67D	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCCCTTGCAGTCACAGATTTT	0.463													A	88040099	T	A	88040099	3	1	190	1	0	0	0	0	1	0	0	0	7440	1667	58	5	202	5	HTR1F	3	88040099	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	38283314	88040099	109982331	17	13130											
FAM55C	91775	broad.mit.edu	37	3	101520152	101520152	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:101520152G>A	uc003dvn.3	+	4	804	c.167G>A	c.(166-168)gGa>gAa	p.G56E	FAM55C_uc010hpn.3_Missense_Mutation_p.G56E	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	56						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						CAGGTGACAGGAATTAGCCGA	0.522													A	101520152	G	A	101520152	3	1	190	1	0	0	0	0	1	0	0	0	5586	1174	41	3	173	3	FAM55C	3	101520152	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	13480053	101520152	96502278	18	13131											
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	190	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	77415939	178936091	19086339	19	13132											
GABRB1	2560	broad.mit.edu	37	4	47322182	47322182	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:47322182G>T	uc003gxh.3	+	4	874	c.500G>T	c.(499-501)aGa>aTa	p.R167I	GABRB1_uc011bze.2_Missense_Mutation_p.R97I	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	167					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			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)	GATCTTCGAAGATATCCATTG	0.418													T	47322182	G	T	47322182	3	4	190	1	0	0	0	0	1	0	0	0	6166	942	33	5	518	5	GABRB1	4	47322182	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		47322182	143832094	20	13133											
HPSE	10855	broad.mit.edu	37	4	84216623	84216623	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:84216623C>G	uc003hoj.4	-	11	1605	c.1506G>C	c.(1504-1506)atG>atC	p.M502I	HPSE_uc003hoi.3_Missense_Mutation_p.M444I|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.M245I|HPSE_uc003hok.4_Missense_Mutation_p.M502I|HPSE_uc011cct.2_Missense_Mutation_p.M428I	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	502					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GATCATCCACCATCTTTAGAG	0.443													G	84216623	C	G	84216623	3	3	190	1	0	0	0	0	1	0	0	0	7344	594	21	5	129	5	HPSE	4	84216623	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	36894441	84216623	106937653	21	13134											
LRIT3	345193	broad.mit.edu	37	4	110791269	110791269	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:110791269C>A	uc003hzx.4	+	2	1422	c.1229C>A	c.(1228-1230)gCa>gAa	p.A410E	LRIT3_uc003hzw.4_Missense_Mutation_p.A272E	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	410						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTAAAGGTGGCAAAGAATGGA	0.458													A	110791269	C	A	110791269	3	1	190	1	0	0	0	0	1	0	0	0	8949	710	25	5	1239	5	LRIT3	4	110791269	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	26574646	110791269	80363007	22	13135											
MYOZ2	51778	broad.mit.edu	37	4	120072132	120072132	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:120072132G>A	uc003icp.4	+	2	395	c.182G>A	c.(181-183)cGt>cAt	p.R61H		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	61							protein phosphatase 2B binding	p.R61C(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TTTAAGATGCGTCAAAGAAGA	0.398													A	120072132	G	A	120072132	3	1	190	1	0	0	0	0	1	0	0	0	10096	1145	40	1	188	1	MYOZ2	4	120072132	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	9280863	120072132	71082144	23	13136											
FSTL5	56884	broad.mit.edu	37	4	162577565	162577565	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:162577565C>G	uc003iqh.3	-	6	1245	c.809G>C	c.(808-810)tGt>tCt	p.C270S	FSTL5_uc003iqi.3_Missense_Mutation_p.C269S|FSTL5_uc010iqv.3_Missense_Mutation_p.C269S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	270	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAATGGCACAGCTCAGAAC	0.393													G	162577565	C	G	162577565	3	3	190	1	0	0	0	0	1	0	0	0	6080	478	17	5	1774	5	FSTL5	4	162577565	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	42505433	162577565	28576711	24	13137											
OSMR	9180	broad.mit.edu	37	5	38904563	38904563	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:38904563T>A	uc003jln.2	+	8	1645	c.1243T>A	c.(1243-1245)Tgg>Agg	p.W415R		NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	415	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTTCTGGAAATGGAGTGAATG	0.488													A	38904563	T	A	38904563	3	1	190	1	0	0	0	0	1	0	0	0	11292	1464	51	5	1311	5	OSMR	5	38904563	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08		38904563	142010697	25	13138											
COX7C	1350	broad.mit.edu	37	5	85915176	85915176	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:85915176C>T	uc003kir.3	+	1	171	c.82C>T	c.(82-84)Cca>Tca	p.P28S	MIR3607_uc021yba.1_5'Flank	NM_001867	NP_001858	P15954	COX7C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIc (COX7C), nuclear gene encoding mitochondrial protein, mRNA.	28					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		ACAGAATTTGCCATTTTCAGT	0.338													T	85915176	C	T	85915176	3	4	190	1	0	0	0	0	1	0	0	0	3784	739	26	3	88	3	COX7C	5	85915176	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	47010613	85915176	95000084	26	13139											
PCDHAC2	56137	broad.mit.edu	37	5	140255258	140255258	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:140255258G>A	uc003lic.2	+	0	328	c.201G>A	c.(199-201)gcG>gcA	p.A67A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A67A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	85	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAAGAC	0.632													A	140255258	G	A	140255258	2	1	190	1	0	0	0	0	0	0	0	1	11533	1132	40	1		1	PCDHAC2	5	140255258	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	54340082	140255258	40660002	27	13140											
SH3RF2	153769	broad.mit.edu	37	5	145393533	145393533	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:145393533T>G	uc003lnt.3	+	4	1206	c.968T>G	c.(967-969)aTc>aGc	p.I323S	SH3RF2_uc011dbl.1_Missense_Mutation_p.I323S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	323							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.E322K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGTAGAGATCAGCACCCCA	0.567													G	145393533	T	G	145393533	3	3	190	1	0	0	0	0	1	0	0	0	14259	1435	50	5	982	5	SH3RF2	5	145393533	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	5138275	145393533	35521727	28	13141											
ITPR3	3710	broad.mit.edu	37	6	33644615	33644615	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:33644615G>A	uc021ywr.1	+	25	3577	c.3353G>A	c.(3352-3354)cGg>cAg	p.R1118Q		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1118					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GACCGGCTGCGGACCATGGTG	0.597													A	33644615	G	A	33644615	3	1	190	1	0	0	0	0	1	0	0	0	7922	1116	39	2	3455	2	ITPR3	6	33644615	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		33644615	137470452	29	13142											
KCNK16	83795	broad.mit.edu	37	6	39282798	39282814	+	Frame_Shift_Del	DEL	TGGATATGGGGAAGTCC	TGGATATGGGGAAGTCC	-	rs147542213	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:39282798_39282814delTGGATATGGGGAAGTCC	uc003oor.4	-	4					KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Frame_Shift_Del_p.Q298fs|KCNK16_uc010jwy.3_Frame_Shift_Del_p.Q251fs	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.							integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGTCCTTTCTTGGATATGGGGAAGTCCTGGGGTGTGA	0.59													-	39282814	TGGATATGGGGAAGTCC	-	39282798	7	5	190	1	0	1	0	1	0	0	0	0	8063	1821	63	0	23	0	KCNK16	6	39282798	Frame_Shift_Del	DEL	TGGATATGGGGAAGTCC	TCGA-27-1838-01A-01D-1494-08	5638183	39282798	131832269	30	13143											
CUL9	23113	broad.mit.edu	37	6	43164484	43164484	+	Missense_Mutation	SNP	C	C	A	rs142672693	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:43164484C>A	uc003ouk.3	+	10	2762	c.2687C>A	c.(2686-2688)aCg>aAg	p.T896K	CUL9_uc003oul.3_Missense_Mutation_p.T896K|CUL9_uc010jyk.3_Missense_Mutation_p.T48K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	896					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGAGAGACACGTTGTTTAGG	0.517													A	43164484	C	A	43164484	3	1	190	1	0	0	0	0	1	0	0	0	4061	536	19	5	2725	5	CUL9	6	43164484	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	3881686	43164484	127950583	31	13144											
ABCC10	89845	broad.mit.edu	37	6	43413522	43413522	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:43413522G>A	uc003ouy.1	+	14	3431	c.3216G>A	c.(3214-3216)ccG>ccA	p.P1072P	ABCC10_uc003ouz.1_Silent_p.P1044P|ABCC10_uc010jyo.1_Silent_p.P178P	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1072	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCTGCTGCCGCCTTTGAGCA	0.662													A	43413522	G	A	43413522	2	1	190	1	0	0	0	0	0	0	0	1	50	1074	38	1		1	ABCC10	6	43413522	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	249038	43413522	127701545	32	13145											
GCM1	8521	broad.mit.edu	37	6	52993580	52993580	+	Silent	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:52993580T>C	uc003pbp.3	-	5	944	c.735A>G	c.(733-735)ggA>ggG	p.G245G		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	245						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTGTGATTCCTCCCAGACCAT	0.453													C	52993580	T	C	52993580	2	2	190	1	0	0	0	0	0	0	0	1	6297	1538	54	4		4	GCM1	6	52993580	Silent	SNP	T	TCGA-27-1838-01A-01D-1494-08	9580058	52993580	118121487	33	13146											
LGSN	51557	broad.mit.edu	37	6	63990360	63990360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:63990360G>A	uc003peh.3	-	3	1130	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	366					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TAACGCTTTCGGCAGCTAACA	0.478													A	63990360	G	A	63990360	4	1	190	1	0	0	0	0	0	1	0	0	8759	1124	39	2	437	2	LGSN	6	63990360	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	10996780	63990360	107124707	34	13147											
PHF3	23469	broad.mit.edu	37	6	64422167	64422167	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:64422167A>G	uc003pep.1	+	14	4708	c.4683A>G	c.(4681-4683)agA>agG	p.R1561R	PHF3_uc003pen.2_Silent_p.R1473R|PHF3_uc011dxs.1_Silent_p.R830R	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1561					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTAGTCTCAGAGGTAAGCCAC	0.353													G	64422167	A	G	64422167	2	3	190	1	0	0	0	0	0	0	0	1	11836	301	11	4		4	PHF3	6	64422167	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	431807	64422167	106692900	35	13148											
SEC63	11231	broad.mit.edu	37	6	108250659	108250659	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:108250659G>A	uc003psc.4	-	1	453	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	62					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.R62W(2)		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)		TTTAATAACCGTAAACGATAC	0.299													A	108250659	G	A	108250659	3	1	190	1	0	0	0	0	1	0	0	0	14005	1144	40	1	2178	1	SEC63	6	108250659	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	43828492	108250659	62864408	36	13149											
SLC22A2	6582	broad.mit.edu	37	6	160663362	160663362	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:160663362C>A	uc003qtf.3	-	7	1526	c.1352G>T	c.(1351-1353)tGc>tTc	p.C451F		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	451		Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations (By similarity).			body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ATTGACCAGGCAGACTATCTC	0.438													A	160663362	C	A	160663362	3	1	190	1	0	0	0	0	1	0	0	0	14450	710	25	5	331	5	SLC22A2	6	160663362	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	52412703	160663362	10451705	37	13150											
DGKB	1607	broad.mit.edu	37	7	14733777	14733777	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:14733777C>T	uc003ssz.3	-	7	821	c.634G>A	c.(634-636)Gga>Aga	p.G212R	DGKB_uc011jxt.2_Missense_Mutation_p.G205R|DGKB_uc003sta.3_Missense_Mutation_p.G212R|DGKB_uc011jxu.2_Missense_Mutation_p.G212R|DGKB_uc011jxv.1_Missense_Mutation_p.G212R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	212	EF-hand 2.				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			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)	GACACGGTTCCATCATGATCA	0.418													T	14733777	C	T	14733777	3	4	190	1	0	0	0	0	1	0	0	0	4466	603	21	3	1867	3	DGKB	7	14733777	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		14733777	144404886	38	13151											
TRA2A	29896	broad.mit.edu	37	7	23552560	23552560	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:23552560G>C	uc003swi.3	-	3	691	c.478C>G	c.(478-480)Cga>Gga	p.R160G	TRA2A_uc011jzb.2_Non-coding_Transcript|TRA2A_uc011jzc.2_Missense_Mutation_p.R59G|TRA2A_uc011jzd.2_Missense_Mutation_p.R59G|TRA2A_uc010kuo.1_Non-coding_Transcript	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA.	160	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GCAAATCCTCGAGATCGCCCA	0.378													C	23552560	G	C	23552560	3	2	190	1	0	0	0	0	1	0	0	0	16430	1066	37	5	390	5	TRA2A	7	23552560	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	8818783	23552560	135586103	39	13152											
GHRHR	2692	broad.mit.edu	37	7	31009513	31009513	+	Silent	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:31009513C>A	uc003tbx.3	+	3	348	c.300C>A	c.(298-300)ggC>ggA	p.G100G	GHRHR_uc003tby.3_Silent_p.G36G|GHRHR_uc003tbz.3_5'UTR	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	100					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CTATCACTGGCTGGTCTGAGC	0.602													A	31009513	C	A	31009513	2	1	190	1	0	0	0	0	0	0	0	1	6373	784	28	5		5	GHRHR	7	31009513	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	7456953	31009513	128129150	40	13153											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	rs149840192		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:55221822C>A	uc003tqk.3	+	6	1112	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221822	C	A	55221822	3	1	190	1	0	0	0	0	1	0	0	0	4967	739	26	5	892	5	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	24212309	55221822	103916841	41	13154											
PCLO	27445	broad.mit.edu	37	7	82474620	82474620	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:82474620G>A	uc003uhx.2	-	12	14302	c.14013C>T	c.(14011-14013)ccC>ccT	p.P4671P	PCLO_uc003uhv.2_Silent_p.P4671P|PCLO_uc003uht.1_Silent_p.P122P|PCLO_uc003uhu.1_Silent_p.P101P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4559					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						TGCTCACTGAGGGGGACCCTG	0.488													A	82474620	G	A	82474620	2	1	190	1	0	0	0	0	0	0	0	1	11583	987	35	3		3	PCLO	7	82474620	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	27252798	82474620	76664043	42	13155											
STEAP4	79689	broad.mit.edu	37	7	87913202	87913202	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:87913202G>A	uc022agz.1	-	2	606	c.383C>T	c.(382-384)gCc>gTc	p.A128V	STEAP4_uc003ujs.3_Missense_Mutation_p.A128V|STEAP4_uc010lek.3_Missense_Mutation_p.A128V	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	128					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TACCACGTGGGCTCCTGGCAC	0.428													A	87913202	G	A	87913202	3	1	190	1	0	0	0	0	1	0	0	0	15279	1203	42	3	1012	3	STEAP4	7	87913202	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	5438582	87913202	71225461	43	13156											
ZNF655	79027	broad.mit.edu	37	7	99170930	99170930	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:99170930G>T	uc010lga.3	+	3	1697	c.1304G>T	c.(1303-1305)aGa>aTa	p.R435I	ZNF655_uc003urh.3_Missense_Mutation_p.R400I|ZNF655_uc010lgc.3_Missense_Mutation_p.R435I|ZNF655_uc003urj.3_Missense_Mutation_p.R400I|ZNF655_uc003urk.3_Missense_Mutation_p.R237I|ZNF655_uc010lgd.3_Missense_Mutation_p.R237I	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	400					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.R435T(1)|p.R400T(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGCATCAAAGAATTCACACA	0.353													T	99170930	G	T	99170930	3	4	190	1	0	0	0	0	1	0	0	0	18065	942	33	5	1736	5	ZNF655	7	99170930	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	11257728	99170930	59967733	44	13157											
RELN	5649	broad.mit.edu	37	7	103368622	103368622	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:103368622T>C	uc022ajr.1	-	6	849	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	RELN_uc022ajq.1_Missense_Mutation_p.Q230R|RELN_uc010liz.3_Missense_Mutation_p.Q230R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	230					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			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)		CGCGCCACACTGTTCTCCAGT	0.458													C	103368622	T	C	103368622	3	2	190	1	0	0	0	0	1	0	0	0	13220	1580	55	4	9929	4	RELN	7	103368622	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	4197692	103368622	55770041	45	13158											
TAS2R16	50833	broad.mit.edu	37	7	122635067	122635067	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:122635067G>T	uc003vkl.1	-	0	688	c.622C>A	c.(622-624)Caa>Aaa	p.Q208K		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	208					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTATGATGTTGTATCTGCTTG	0.463													T	122635067	G	T	122635067	3	4	190	1	0	0	0	0	1	0	0	0	15566	1386	48	5	257	5	TAS2R16	7	122635067	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	19266445	122635067	36503596	46	13159											
TRPV6	55503	broad.mit.edu	37	7	142575732	142575732	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:142575732T>C	uc003wbx.2	-	1	405	c.176A>G	c.(175-177)cAg>cGg	p.Q59R	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	59					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTTCAGGGCCTGGACATCATT	0.493													C	142575732	T	C	142575732	3	2	190	1	0	0	0	0	1	0	0	0	16597	1580	55	4	2057	4	TRPV6	7	142575732	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	19940665	142575732	16562931	47	13160											
DCTN6	10671	broad.mit.edu	37	8	30040689	30040689	+	Nonstop_Mutation	SNP	A	A	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:30040689A>C	uc003xhy.3	+	6	660	c.573A>C	c.(571-573)taA>taC	p.*191Y	MIR548O2_uc022atm.1_Intron	NM_006571	NP_006562	O00399	DCTN6_HUMAN	Homo sapiens dynactin 6 (DCTN6), mRNA.	0						centrosome	transferase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		TAAAGAACTAAGAACAGTGTA	0.378													C	30040689	A	C	30040689	4	2	190	1	0	0	0	0	0	0	0	0	4311	79	3	5	599	5	DCTN6	8	30040689	Nonstop_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08		30040689	116323333	48	13161											
PLEKHA2	59339	broad.mit.edu	37	8	38826181	38826181	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:38826181C>T	uc003xmi.4	+	10	1143	c.909C>T	c.(907-909)caC>caT	p.H303H	PLEKHA2_uc011lce.2_Silent_p.H253H	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	303					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCAAGTGCCACCCCAGAGTAA	0.498													T	38826181	C	T	38826181	2	4	190	1	0	0	0	0	0	0	0	1	12056	506	18	3		3	PLEKHA2	8	38826181	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	8785492	38826181	107537841	49	13162											
ANK1	286	broad.mit.edu	37	8	41543721	41543721	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:41543721T>A	uc003xok.3	-	35	4423	c.4339A>T	c.(4339-4341)Agt>Tgt	p.S1447C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S763C|ANK1_uc003xoi.3_Missense_Mutation_p.S1447C|ANK1_uc003xoj.3_Missense_Mutation_p.S1447C|ANK1_uc003xol.3_Missense_Mutation_p.S1447C|ANK1_uc003xom.3_Missense_Mutation_p.S1488C	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1447	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AAGGCCACACTCTGCTCCAAC	0.557													A	41543721	T	A	41543721	3	1	190	1	0	0	0	0	1	0	0	0	620	1551	54	5	1660	5	ANK1	8	41543721	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	2717540	41543721	104820301	50	13163											
IL7	3574	broad.mit.edu	37	8	79645969	79645969	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:79645969C>T	uc003ybg.3	-	5	1114	c.513G>A	c.(511-513)ttG>ttA	p.L171L	IL7_uc022awh.1_Silent_p.L153L|IL7_uc022awi.1_Silent_p.L127L|IL7_uc022awj.1_Silent_p.L109L|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	171					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TAGTGCCCATCAAAATTTTAT	0.323													T	79645969	C	T	79645969	2	4	190	1	0	0	0	0	0	0	0	1	7704	825	29	3		3	IL7	8	79645969	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	38102248	79645969	66718053	51	13164											
RGS22	26166	broad.mit.edu	37	8	101016271	101016271	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:101016271C>T	uc003yjb.1	-	16	2705	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R226Q|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	837					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R837Q(3)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATATTCTGTTCGTTTAGAGAC	0.353													T	101016271	C	T	101016271	3	4	190	1	0	0	0	0	1	0	0	0	13305	884	31	2	1328	2	RGS22	8	101016271	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	21370302	101016271	45347751	52	13165											
SMARCA2	6595	broad.mit.edu	37	9	2029232	2029232	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:2029232G>C	uc003zhc.3	+	1	309	c.210G>C	c.(208-210)atG>atC	p.M70I	SMARCA2_uc003zhd.3_Missense_Mutation_p.M70I|SMARCA2_uc010mha.3_Missense_Mutation_p.M61I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	70					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGGAAGGCATGCATCAAATGC	0.493													C	2029232	G	C	2029232	3	2	190	1	0	0	0	0	1	0	0	0	14769	1319	46	5	212	5	SMARCA2	9	2029232	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		2029232	139184199	53	13166											
IL33	90865	broad.mit.edu	37	9	6251142	6251142	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:6251142A>G	uc003zjt.3	+	3	298	c.220A>G	c.(220-222)Aga>Gga	p.R74G	IL33_uc011lmg.2_Missense_Mutation_p.R74G|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Intron	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	74					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTCTGCAGGTAGAAAGCACAA	0.493													G	6251142	A	G	6251142	3	3	190	1	0	0	0	0	1	0	0	0	7693	412	15	4	230	4	IL33	9	6251142	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	4221910	6251142	134962289	54	13167											
ZNF484	83744	broad.mit.edu	37	9	95610513	95610513	+	Nonsense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:95610513C>A	uc004asu.1	-	4	705	c.556G>T	c.(556-558)Gag>Tag	p.E186*	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.E188*|ZNF484_uc004asv.1_Nonsense_Mutation_p.E150*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.E150*	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATGATAGGCTCCAAATTCTTT	0.343													A	95610513	C	A	95610513	4	1	190	1	0	0	0	0	0	1	0	0	17934	864	30	5	2006	5	ZNF484	9	95610513	Nonsense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	89359371	95610513	45602918	55	13168											
ZNF462	58499	broad.mit.edu	37	9	109687562	109687562	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:109687562C>G	uc004bcz.3	+	2	1658	c.1369C>G	c.(1369-1371)Cac>Gac	p.H457D	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.H305D|ZNF462_uc004bda.3_Missense_Mutation_p.H305D	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	457					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CATCTCTCGTCACATAGAAAA	0.438													G	109687562	C	G	109687562	3	3	190	1	0	0	0	0	1	0	0	0	17923	826	29	5	1375	5	ZNF462	9	109687562	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	14077049	109687562	31525869	56	13169											
FAM129B	64855	broad.mit.edu	37	9	130289580	130289580	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:130289580C>T	uc004brh.3	-	2	410	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	FAM129B_uc004bri.3_Missense_Mutation_p.V57I|FAM129B_uc004brj.4_Missense_Mutation_p.V70I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	70	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCGAGAAGACGATGCGCTCG	0.637													T	130289580	C	T	130289580	3	4	190	1	0	0	0	0	1	0	0	0	5437	536	19	1	2080	1	FAM129B	9	130289580	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	20602018	130289580	10923851	57	13170											
PAEP	5047	broad.mit.edu	37	9	138453719	138453719	+	Silent	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:138453719C>A	uc004cge.1	+	0	116	c.72C>A	c.(70-72)acC>acA	p.T24T	PAEP_uc010naw.1_Silent_p.T24T|PAEP_uc010nay.3_Silent_p.T24T|PAEP_uc010naz.3_Non-coding_Transcript|PAEP_uc010nba.1_Silent_p.T24T|PAEP_uc004cgd.1_Silent_p.T24T|PAEP_uc011mdp.1_Silent_p.T24T|PAEP_uc004cgg.1_Silent_p.T24T|PAEP_uc004cgf.1_Silent_p.T24T	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.	24					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TCCCCCAGACCAAGCAGGACC	0.682													A	138453719	C	A	138453719	2	1	190	1	0	0	0	0	0	0	0	1	11382	581	21	5		5	PAEP	9	138453719	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	8164139	138453719	2759712	58	13171											
ADARB2	105	broad.mit.edu	37	10	1262895	1262895	+	Missense_Mutation	SNP	C	C	T	rs142663256	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:1262895C>T	uc009xhq.3	-	6	2004	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	560	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.A560T(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCTCACCTGGCGATCTTGTCC	0.677													T	1262895	C	T	1262895	3	4	190	1	0	0	0	0	1	0	0	0	283	768	27	1	557	1	ADARB2	10	1262895	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		1262895	134271852	59	13172											
GDF10	2662	broad.mit.edu	37	10	48429388	48429388	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:48429388C>T	uc001jfb.3	-	1	926	c.498G>A	c.(496-498)ccG>ccA	p.P166P	GDF10_uc009xnp.3_Silent_p.P165P|GDF10_uc009xnq.2_Silent_p.P166P	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	166					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCGTGTGGGCGGGCCCAGGG	0.726													T	48429388	C	T	48429388	2	4	190	1	0	0	0	0	0	0	0	1	6311	755	27	1		1	GDF10	10	48429388	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	47166493	48429388	87105359	60	13173											
MAT1A	4143	broad.mit.edu	37	10	82034333	82034333	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:82034333C>T	uc001kbw.3	-	7	1283	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	343					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.R343Q(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAGCAGCTCTCGCTCTGTCTT	0.557													T	82034333	C	T	82034333	3	4	190	1	0	0	0	0	1	0	0	0	9329	884	31	2	167	2	MAT1A	10	82034333	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	33604945	82034333	53500414	61	13174											
PTEN	5728	broad.mit.edu	37	10	89720670	89720671	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:89720670_89720671GG>CT	uc001kfb.3	+	7	1853_1854	c.821_822GG>CT	c.(820-822)tgg>tCT	p.W274S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	274	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.W274*(14)|p.R55fs*1(5)|p.W274G(3)|p.?(2)|p.W274fs*2(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F273S(1)|p.G165_*404del(1)|p.W274R(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTCACTTTTGGGTAAATACAT	0.267		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			CT	89720671	GG	CT	89720670	3	2	190	1	0	0	0	0	1	0	0	0	12738	1357	47	5	851	5	PTEN	10	89720670	Missense_Mutation	DNP	GG	TCGA-27-1838-01A-01D-1494-08	7686337	89720670	45814077	62	13175											
AFAP1L2	84632	broad.mit.edu	37	10	116062141	116062141	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:116062141C>T	uc001lbn.3	-	11	1688	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	AFAP1L2_uc001lbo.3_Missense_Mutation_p.D463N|AFAP1L2_uc010qse.2_Missense_Mutation_p.D516N|AFAP1L2_uc001lbp.3_Missense_Mutation_p.D491N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbm.3_5'Flank|AFAP1L2_uc010qsd.2_Missense_Mutation_p.D29N|AFAP1L2_uc001lbq.1_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	463					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAGACCCTATCGGCATCCACA	0.527													T	116062141	C	T	116062141	3	4	190	1	0	0	0	0	1	0	0	0	355	884	31	2	1101	2	AFAP1L2	10	116062141	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	26341471	116062141	19472606	63	13176											
C11orf35	256329	broad.mit.edu	37	11	556891	556891	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:556891C>T	uc001lpx.3	-	7	983	c.920G>A	c.(919-921)cGc>cAc	p.R307H	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	307										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGAAGCGCGGTGGTCCCG	0.692													T	556891	C	T	556891	3	4	190	1	0	0	0	0	1	0	0	0	1638	768	27	1	1012	1	C11orf35	11	556891	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		556891	134449625	64	13177											
OR4A15	81328	broad.mit.edu	37	11	55135749	55135749	+	Silent	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55135749T>C	uc010rif.2	+	0	390	c.390T>C	c.(388-390)ttT>ttC	p.F130F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCAACTTTTTATGGATCATT	0.403													C	55135749	T	C	55135749	2	2	190	1	0	0	0	0	0	0	0	1	11040	1751	61	4		4	OR4A15	11	55135749	Silent	SNP	T	TCGA-27-1838-01A-01D-1494-08	54578858	55135749	79870767	65	13178											
OR5D16	390144	broad.mit.edu	37	11	55606949	55606950	+	Frame_Shift_Ins	INS	-	-	CACCT			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55606949_55606950insCACCT	uc010rio.2	+	0	722_723	c.722_723insCACCT	c.(721-723)tccfs	p.S241fs		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F240L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AAAGTCTTCTCCACCTGTGCCT	0.49													CACCT	55606950	-	CACCT	55606949	7	5	190	1	0	1	1	0	0	0	0	0	11156	855	30	0	724	0	OR5D16	11	55606949	Frame_Shift_Ins	INS	-	TCGA-27-1838-01A-01D-1494-08	471200	55606949	79399567	66	13179											
OR8H2	390151	broad.mit.edu	37	11	55873210	55873210	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55873210C>T	uc010riy.2	+	0	692	c.692C>T	c.(691-693)aCt>aTt	p.T231I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTAATTCCACTTCAGGAAAG	0.373										HNSCC(53;0.14)			T	55873210	C	T	55873210	3	4	190	1	0	0	0	0	1	0	0	0	11238	565	20	3	694	3	OR8H2	11	55873210	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	266261	55873210	79133306	67	13180											
ZP1	22917	broad.mit.edu	37	11	60637220	60637220	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:60637220C>G	uc001nqd.3	+	2	549	c.529C>G	c.(529-531)Cat>Gat	p.H177D	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	177					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTCTGGCCATGCCTTTCC	0.627													G	60637220	C	G	60637220	3	3	190	1	0	0	0	0	1	0	0	0	18212	594	21	5	539	5	ZP1	11	60637220	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	4764010	60637220	74369296	68	13181											
FTH1	2495	broad.mit.edu	37	11	61732280	61732280	+	Silent	SNP	G	G	C	rs11554851		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:61732280G>C	uc001nsu.3	-	3	706	c.471C>G	c.(469-471)cgC>cgG	p.R157R		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	157	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTCCCATCTTGCGCAAGTTGG	0.493													C	61732280	G	C	61732280	2	2	190	1	0	0	0	0	0	0	0	1	6082	1306	46	5		5	FTH1	11	61732280	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	1095060	61732280	73274236	69	13182											
PGR	5241	broad.mit.edu	37	11	100933263	100933263	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:100933263G>T	uc001pgh.2	-	3	2870	c.2127C>A	c.(2125-2127)gaC>gaA	p.D709E	PGR_uc001pgg.2_Missense_Mutation_p.D90E|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	709	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AACTGGAGGTGTCAGGTTTTG	0.408													T	100933263	G	T	100933263	3	4	190	1	0	0	0	0	1	0	0	0	11805	1368	48	5	694	5	PGR	11	100933263	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	39200983	100933263	34073253	70	13183											
CDCA3	83461	broad.mit.edu	37	12	6959664	6959664	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:6959664T>C	uc001qrg.2	-	2	345	c.217A>G	c.(217-219)Att>Gtt	p.I73V	CDCA3_uc001qre.2_Missense_Mutation_p.I73V|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.	73					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GTCCGTGCAATACCAAGAGTA	0.547													C	6959664	T	C	6959664	3	2	190	1	0	0	0	0	1	0	0	0	3087	1406	49	4	605	4	CDCA3	12	6959664	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08		6959664	126892231	71	13184											
ABCC9	10060	broad.mit.edu	37	12	21960380	21960380	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21960380C>G	uc001rfh.3	-	35	4369	c.4349G>C	c.(4348-4350)aGc>aCc	p.S1450T	ABCC9_uc001rfi.1_Missense_Mutation_p.S1450T	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1450	ABC transporter 2.				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			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)	CTGTCCAACGCTAAAATTCTC	0.433													G	21960380	C	G	21960380	3	3	190	1	0	0	0	0	1	0	0	0	59	797	28	5	454	5	ABCC9	12	21960380	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	15000716	21960380	111891515	72	13185											
ABCC9	10060	broad.mit.edu	37	12	21968784	21968784	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21968784G>C	uc001rfh.3	-	31	3956	c.3936C>G	c.(3934-3936)atC>atG	p.I1312M	ABCC9_uc001rfi.1_Missense_Mutation_p.I1312M	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1312	ABC transporter 2.				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			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)	CATGTATCTTGATCTCCCCTT	0.403													C	21968784	G	C	21968784	3	2	190	1	0	0	0	0	1	0	0	0	59	1280	45	5	883	5	ABCC9	12	21968784	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	8404	21968784	111883111	73	13186											
ABCC9	10060	broad.mit.edu	37	12	21970190	21970190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21970190G>A	uc001rfh.3	-	30	3843	c.3823C>T	c.(3823-3825)Cag>Tag	p.Q1275*	ABCC9_uc001rfi.1_Nonsense_Mutation_p.Q1275*	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1275					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			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)	GCACCCATCTGGACCTCCAGG	0.373													A	21970190	G	A	21970190	4	1	190	1	0	0	0	0	0	1	0	0	59	1357	47	3	1000	3	ABCC9	12	21970190	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	1406	21970190	111881705	74	13187											
ABCC9	10060	broad.mit.edu	37	12	21981913	21981913	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21981913G>T	uc001rfh.3	-	28	3668	c.3648C>A	c.(3646-3648)aaC>aaA	p.N1216K	ABCC9_uc001rfi.1_Missense_Mutation_p.N1216K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1216	ABC transmembrane type-1 2.				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			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)	CCAGCCATCTGTTGGCAGCTG	0.423													T	21981913	G	T	21981913	3	4	190	1	0	0	0	0	1	0	0	0	59	1368	48	5	1183	5	ABCC9	12	21981913	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	11723	21981913	111869982	75	13188											
OR6C6	283365	broad.mit.edu	37	12	55688288	55688288	+	Missense_Mutation	SNP	C	C	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:55688288C>G	uc010sph.2	-	0	729	c.729G>C	c.(727-729)atG>atC	p.M243I		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGACAACAATCATGTGGGAAG	0.368													G	55688288	C	G	55688288	3	3	190	1	0	0	0	0	1	0	0	0	11194	826	29	5	217	5	OR6C6	12	55688288	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	33706375	55688288	78163607	76	13189											
NUP107	57122	broad.mit.edu	37	12	69115670	69115670	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:69115670G>A	uc001suf.3	+	15	1476	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	NUP107_uc001sug.3_Missense_Mutation_p.R301Q|NUP107_uc010stj.2_Missense_Mutation_p.R425Q	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	454					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GCCTACTTCCGGGTGATGGTG	0.448													A	69115670	G	A	69115670	3	1	190	1	0	0	0	0	1	0	0	0	10753	1116	39	2	1423	2	NUP107	12	69115670	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	13427382	69115670	64736225	77	13190											
FLT3	2322	broad.mit.edu	37	13	28636174	28636174	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr13:28636174C>T	uc001urw.3	-	2	280	c.198G>A	c.(196-198)gcG>gcA	p.A66A	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.A66A	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	66					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.A66A(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGGTCTCAACGCACACCCGA	0.537			"Mis, O"		"AML, ALL"								T	28636174	C	T	28636174	2	4	190	1	0	0	0	0	0	0	0	1	5942	523	19	1		1	FLT3	13	28636174	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08		28636174	86533704	78	13191											
RNASE11	122651	broad.mit.edu	37	14	21052270	21052270	+	Missense_Mutation	SNP	G	G	A	rs144501463	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:21052270G>A	uc010ahw.3	-	2	700	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RNASE11_uc010ahv.3_Missense_Mutation_p.R122C|RNASE11_uc010ahx.3_Missense_Mutation_p.R122C|RNASE11_uc001vxs.3_Missense_Mutation_p.R122C|RNASE11_uc021rnu.1_Missense_Mutation_p.R122C	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	122						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.R122S(2)|p.R122R(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GTGGAGCTGCGGATGAAGTTA	0.488													A	21052270	G	A	21052270	3	1	190	1	0	0	0	0	1	0	0	0	13401	1116	39	2	239	2	RNASE11	14	21052270	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		21052270	86297270	79	13192											
GALNTL1	57452	broad.mit.edu	37	14	69795188	69795188	+	Missense_Mutation	SNP	G	G	A	rs61748871	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:69795188G>A	uc001xlb.2	+	5	917	c.590G>A	c.(589-591)cGt>cAt	p.R197H	GALNTL1_uc001xla.2_Missense_Mutation_p.R197H|GALNTL1_uc010aqu.2_Missense_Mutation_p.R197H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	197	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		TCCCGAGTGCGTGGGGCGGAC	0.632													A	69795188	G	A	69795188	3	1	190	1	0	0	0	0	1	0	0	0	6221	1145	40	1	612	1	GALNTL1	14	69795188	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	48742918	69795188	37554352	80	13193											
FBLN5	10516	broad.mit.edu	37	14	92343924	92343924	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:92343924G>A	uc010aue.3	-	10	1688	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	FBLN5_uc010aud.3_Silent_p.D369D|FBLN5_uc001xzx.4_Silent_p.D364D|FBLN5_uc001xzw.3_5'Flank	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	364					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			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)				TTTGGAAGATGTCAGCGGGAA	0.537													A	92343924	G	A	92343924	2	1	190	1	0	0	0	0	0	0	0	1	5700	1368	48	3		3	FBLN5	14	92343924	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	22548736	92343924	15005616	81	13194											
PAPOLA	10914	broad.mit.edu	37	14	96991694	96991694	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:96991694A>G	uc001yfq.3	+	3	514	c.297A>G	c.(295-297)acA>acG	p.T99T	PAPOLA_uc001yfp.3_Silent_p.T99T|PAPOLA_uc001yfo.3_Silent_p.T99T|PAPOLA_uc001yfr.3_Silent_p.T99T|PAPOLA_uc010twv.2_Silent_p.T99T|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	99					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AAATTTTTACATTTGGATCTT	0.323													G	96991694	A	G	96991694	2	3	190	1	0	0	0	0	0	0	0	1	11429	204	8	4		4	PAPOLA	14	96991694	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	4647770	96991694	10357846	82	13195											
KIF26A	26153	broad.mit.edu	37	14	104642036	104642036	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:104642036G>T	uc001yos.4	+	11	2911	c.2911G>T	c.(2911-2913)Ggg>Tgg	p.G971W		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	971					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCTGGGGGAGGGGGCACTGA	0.701													T	104642036	G	T	104642036	3	4	190	1	0	0	0	0	1	0	0	0	8294	1000	35	5	2957	5	KIF26A	14	104642036	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	7650342	104642036	2707504	83	13196											
TUBGCP5	114791	broad.mit.edu	37	15	22868917	22868917	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:22868917A>G	uc001yuq.2	+	19	2919	c.2789A>G	c.(2788-2790)cAc>cGc	p.H930R	TUBGCP5_uc001yur.4_Missense_Mutation_p.H930R	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	930					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATTAAAATTCACTATAGGTAT	0.453													G	22868917	A	G	22868917	3	3	190	1	0	0	0	0	1	0	0	0	16766	159	6	4	2867	4	TUBGCP5	15	22868917	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08		22868917	79662475	84	13197											
C15orf2	23742	broad.mit.edu	37	15	24922713	24922713	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:24922713T>C	uc001ywo.3	+	0	2173	c.1699T>C	c.(1699-1701)Tca>Cca	p.S567P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	567					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCACCTAACCTCACAGACTGC	0.488													C	24922713	T	C	24922713	3	2	190	1	0	0	0	0	1	0	0	0	1784	1551	54	4	1701	4	C15orf2	15	24922713	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	2053796	24922713	77608679	85	13198											
RPAP1	26015	broad.mit.edu	37	15	41810311	41810311	+	Missense_Mutation	SNP	G	G	A	rs141969064		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:41810311G>A	uc001zod.3	-	22	3989	c.3865C>T	c.(3865-3867)Cgg>Tgg	p.R1289W		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	1289						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACCAGGGTCCGGAAGTAGAGC	0.582													A	41810311	G	A	41810311	3	1	190	1	0	0	0	0	1	0	0	0	13541	1115	39	2	328	2	RPAP1	15	41810311	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	16887598	41810311	60721081	86	13199											
DUOX2	50506	broad.mit.edu	37	15	45387648	45387648	+	Missense_Mutation	SNP	A	A	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:45387648A>C	uc001zun.3	-	30	4429	c.4226T>G	c.(4225-4227)aTg>aGg	p.M1409R	DUOX2_uc010bea.3_Missense_Mutation_p.M1409R	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1409					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTACACAGCATTTGGCTGCC	0.532													C	45387648	A	C	45387648	3	2	190	1	0	0	0	0	1	0	0	0	4801	217	8	5	436	5	DUOX2	15	45387648	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	3577337	45387648	57143744	87	13200											
ZNF263	10127	broad.mit.edu	37	16	3339694	3339694	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:3339694C>A	uc002cuq.3	+	5	1520	c.1188C>A	c.(1186-1188)caC>caA	p.H396Q	ZNF263_uc010uww.2_Missense_Mutation_p.H44Q|ZNF263_uc002cur.2_Missense_Mutation_p.H44Q	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	396					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TAATTAGGCACCAGAGAATAC	0.478													A	3339694	C	A	3339694	3	1	190	1	0	0	0	0	1	0	0	0	17800	506	18	5	1210	5	ZNF263	16	3339694	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		3339694	87015059	88	13201											
ATF7IP2	80063	broad.mit.edu	37	16	10525310	10525310	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:10525310A>G	uc002czw.3	+	1	992	c.833A>G	c.(832-834)aAc>aGc	p.N278S	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.N278S|ATF7IP2_uc002czv.3_Missense_Mutation_p.N278S|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						ACTAATAACAACAGTAAGTAT	0.313													G	10525310	A	G	10525310	3	3	190	1	0	0	0	0	1	0	0	0	1088	43	2	4	835	4	ATF7IP2	16	10525310	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	7185616	10525310	79829443	89	13202											
AQP8	343	broad.mit.edu	37	16	25232824	25232824	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:25232824G>A	uc002doc.3	+	2	389	c.307G>A	c.(307-309)Gga>Aga	p.G103R		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	103					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CATGCTGATCGGAGGCCTCAA	0.627													A	25232824	G	A	25232824	3	1	190	1	0	0	0	0	1	0	0	0	832	1117	39	2	317	2	AQP8	16	25232824	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	14707514	25232824	65121929	90	13203											
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:7577114C>T	uc002gim.2	-	7	1018	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.C275Y(106)|p.C275F(72)|p.V274F(19)|p.V274A(16)|p.V274L(10)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.C275W(7)|p.V274G(7)|p.C275fs*70(6)|p.C275C(4)|p.C275S(4)|p.V274I(4)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.C275fs*31(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.V274fs*71(1)|p.C275_A276ins10(1)|p.C275*(1)|p.S269fs*21(1)|p.A276fs*29(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)		AGGACAGGCACAAACACGCAC	0.552		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)			T	7577114	C	T	7577114	3	4	190	1	0	0	0	0	1	0	0	0	16378	478	17	3	462	3	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		7577114	73618096	91	13204											
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:7577610T>C	uc002gim.2	-	7	867	c.673_splice	c.e7-1	p.V225_splice	TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.3_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	225	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in a sporadic cancer; 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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		AGAGCCAACCTAGGAGATAAC	0.522		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)			C	7577610	T	C	7577610	5	2	190	1	0	0	0	0	0	0	1	0	16378	1536	53	4	619	4	TP53	17	7577610	Splice_Site	SNP	T	TCGA-27-1838-01A-01D-1494-08	496	7577610	73617600	92	13205											
CCDC42	146849	broad.mit.edu	37	17	8644917	8644917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:8644917G>A	uc002gln.3	-	3	594	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	CCDC42_uc002glo.3_Nonsense_Mutation_p.Q123*	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	123										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTCAGCTCCTGCATGTGCTGG	0.602													A	8644917	G	A	8644917	4	1	190	1	0	0	0	0	0	1	0	0	2814	1328	46	3	599	3	CCDC42	17	8644917	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	1067307	8644917	72550293	93	13206											
DNAH9	1770	broad.mit.edu	37	17	11568211	11568211	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:11568211C>A	uc002gne.3	+	14	2725	c.2657C>A	c.(2656-2658)tCt>tAt	p.S886Y	DNAH9_uc010coo.3_Missense_Mutation_p.S180Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	886	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			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)		TATGTTAACTCTATTGACAAT	0.383													A	11568211	C	A	11568211	3	1	190	1	0	0	0	0	1	0	0	0	4608	913	32	5	2715	5	DNAH9	17	11568211	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	2923294	11568211	69626999	94	13207											
DHX58	79132	broad.mit.edu	37	17	40263362	40263362	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:40263362G>T	uc002hyw.3	-	3	545	c.322C>A	c.(322-324)Cag>Aag	p.Q108K	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.Q101K	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	108	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTGCCATCTGCAGAAGCTCT	0.622													T	40263362	G	T	40263362	3	4	190	1	0	0	0	0	1	0	0	0	4514	1328	46	5	1758	5	DHX58	17	40263362	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	28695151	40263362	40931848	95	13208											
HEATR6	63897	broad.mit.edu	37	17	58137429	58137429	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:58137429G>C	uc002iyk.1	-	9	1462	c.1445C>G	c.(1444-1446)tCt>tGt	p.S482C	HEATR6_uc010ddk.1_Missense_Mutation_p.S21C|HEATR6_uc010wos.1_Missense_Mutation_p.S314C	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	482							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAAGATGGCAGATAAAACTTG	0.433													C	58137429	G	C	58137429	3	2	190	1	0	0	0	0	1	0	0	0	7033	942	33	5	2144	5	HEATR6	17	58137429	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	17874067	58137429	23057781	96	13209											
KCNJ16	3773	broad.mit.edu	37	17	68128948	68128948	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:68128948A>T	uc002jiq.3	+	2	956	c.816A>T	c.(814-816)ttA>ttT	p.L272F	KCNJ16_uc002jin.3_Missense_Mutation_p.L240F|KCNJ16_uc002jio.3_Missense_Mutation_p.L240F|KCNJ16_uc002jip.3_Missense_Mutation_p.L240F|KCNJ16_uc021uch.1_Missense_Mutation_p.L240F	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	240					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			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)					ACCTCAAATTAGTCAACGACC	0.483													T	68128948	A	T	68128948	3	4	190	1	0	0	0	0	1	0	0	0	8050	417	15	5	722	5	KCNJ16	17	68128948	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	9991519	68128948	13066262	97	13210											
SMCHD1	23347	broad.mit.edu	37	18	2688412	2688412	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:2688412G>A	uc002klm.4	+	5	848	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	220					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGATATGTTCGTCCAGTACCA	0.368													A	2688412	G	A	2688412	3	1	190	1	0	0	0	0	1	0	0	0	14788	1145	40	1	681	1	SMCHD1	18	2688412	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		2688412	75388836	98	13211											
DSG4	147409	broad.mit.edu	37	18	28993484	28993484	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:28993484G>A	uc002kwr.2	+	14	3241	c.3106G>A	c.(3106-3108)Gtt>Att	p.V1036I	DSG4_uc002kwq.2_Missense_Mutation_p.V1017I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	1017					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			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)			AGGCCAAACCGTTGGCTCCAC	0.453													A	28993484	G	A	28993484	3	1	190	1	0	0	0	0	1	0	0	0	4779	1145	40	1	3232	1	DSG4	18	28993484	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	26305072	28993484	49083764	99	13212											
CDH19	28513	broad.mit.edu	37	18	64218401	64218401	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:64218401C>T	uc002lkc.1	-	4	843	c.705G>A	c.(703-705)gcG>gcA	p.A235A	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Silent_p.A235A|CDH19_uc002lkd.3_Silent_p.A235A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	235	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTCCAGACAACGCTCCTGGCT	0.328													T	64218401	C	T	64218401	2	4	190	1	0	0	0	0	0	0	0	1	3104	523	19	1		1	CDH19	18	64218401	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	35224917	64218401	13858847	100	13213											
FBN3	84467	broad.mit.edu	37	19	8191373	8191373	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:8191373G>C	uc002mjf.3	-	18	2550	c.2533C>G	c.(2533-2535)Ccc>Gcc	p.P845A		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	845	TB 4.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTCGCAGGGGCTCCCCCAG	0.667													C	8191373	G	C	8191373	3	2	190	1	0	0	0	0	1	0	0	0	5704	1232	43	5	6076	5	FBN3	19	8191373	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		8191373	50937610	101	13214											
TNPO2	30000	broad.mit.edu	37	19	12825902	12825902	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:12825902G>A	uc002mup.3	-	6	1468	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TNPO2_uc002muq.3_Missense_Mutation_p.R244W|TNPO2_uc002muo.3_Missense_Mutation_p.R244W|TNPO2_uc002mur.3_Missense_Mutation_p.R244W	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	244					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.R336C(1)|p.R336H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCAATCCGCACTTCCAGA	0.632													A	12825902	G	A	12825902	3	1	190	1	0	0	0	0	1	0	0	0	16333	1086	38	1	2031	1	TNPO2	19	12825902	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	4634529	12825902	46303081	102	13215											
ZNF17	7565	broad.mit.edu	37	19	57931383	57931383	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:57931383A>G	uc002qop.1	+	3	795	c.529A>G	c.(529-531)Agg>Ggg	p.R177G	ZNF17_uc021vck.1_Missense_Mutation_p.R168G|ZNF17_uc002qoo.1_Missense_Mutation_p.R175G	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GAAGCCACACAGGGACACTCA	0.488													G	57931383	A	G	57931383	3	3	190	1	0	0	0	0	1	0	0	0	17740	179	7	4	533	4	ZNF17	19	57931383	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	45105481	57931383	1197600	103	13216											
ANGPT4	51378	broad.mit.edu	37	20	870858	870858	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:870858G>A	uc002wei.3	-	1	566	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	ANGPT4_uc010zpn.2_Nonsense_Mutation_p.Q149*	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	155					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTGTTACCTGAGCCTCCATG	0.607													A	870858	G	A	870858	4	1	190	1	0	0	0	0	0	1	0	0	612	1299	45	3	1080	3	ANGPT4	20	870858	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		870858	62154662	104	13217											
SIRPA	140885	broad.mit.edu	37	20	1915375	1915375	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:1915375A>T	uc002wfq.3	+	7	1601	c.1241A>T	c.(1240-1242)gAg>gTg	p.E414V	SIRPA_uc010zps.2_Missense_Mutation_p.E394V|SIRPA_uc002wfr.3_Missense_Mutation_p.E414V|SIRPA_uc002wfs.3_Missense_Mutation_p.E414V|SIRPA_uc002wft.3_Missense_Mutation_p.E414V	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	414					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.E414*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATGAGCCCGAGAAGAATGCC	0.448													T	1915375	A	T	1915375	3	4	190	1	0	0	0	0	1	0	0	0	14332	304	11	5	1267	5	SIRPA	20	1915375	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	1044517	1915375	61110145	105	13218											
PTPRT	11122	broad.mit.edu	37	20	41385120	41385120	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:41385120C>T	uc002xkg.3	-	5	1025	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	PTPRT_uc010ggj.3_Missense_Mutation_p.A281T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	281	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.A281V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCAGCTCCGCGTAGTTGGAC	0.567													T	41385120	C	T	41385120	3	4	190	1	0	0	0	0	1	0	0	0	12812	768	27	1	3649	1	PTPRT	20	41385120	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	39469745	41385120	21640400	106	13219											
MXRA5	25878	broad.mit.edu	37	X	3235331	3235331	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:3235331C>T	uc004crg.4	-	5	6548	c.6391G>A	c.(6391-6393)Gcg>Acg	p.A2131T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2131	Ig-like C2-type 5.					extracellular region				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)				GTCCTGCGCGCGGAGCCTACC	0.662													T	3235331	C	T	3235331	3	4	190	1	0	0	0	0	1	0	0	0	10003	768	27	1	2103	1	MXRA5	23	3235331	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		3235331	152035229	107	13220											
MAGEB6	158809	broad.mit.edu	37	X	26212996	26212996	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:26212996C>T	uc022buc.1	+	0	1033	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	MAGEB6_uc004dbr.3_Missense_Mutation_p.R345W	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	345	MAGE.							p.R345W(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGTGGTTTACCGGCAGGTGTG	0.498													T	26212996	C	T	26212996	3	4	190	1	0	0	0	0	1	0	0	0	9179	643	23	2	1035	2	MAGEB6	23	26212996	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	22977665	26212996	129057564	108	13221											
USP9X	8239	broad.mit.edu	37	X	41075579	41075579	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:41075579G>C	uc004dfb.3	+	34	6392	c.5759G>C	c.(5758-5760)tGt>tCt	p.C1920S	USP9X_uc004dfc.3_Missense_Mutation_p.C1920S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1920					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAAAACCAGTGTTTTGGTGGA	0.388													C	41075579	G	C	41075579	3	2	190	1	0	0	0	0	1	0	0	0	17087	1377	48	5	5893	5	USP9X	23	41075579	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	14862583	41075579	114194981	109	13222											
SLC9A7	84679	broad.mit.edu	37	X	46491045	46491047	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:46491045_46491047delGTT	uc004dgu.1	-	13	1719_1721	c.1711_1713delAAC	c.(1711-1713)aacdel	p.N571del		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	571					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GAAAGCTGTCGTTGTTGGGTGGT	0.483													-	46491047	GTT	-	46491045	7	5	190	1	0	1	0	1	0	0	0	0	14719	1136	40	0	480	0	SLC9A7	23	46491045	In_Frame_Del	DEL	GTT	TCGA-27-1838-01A-01D-1494-08	5415466	46491045	108779515	110	13223											
SSX7	280658	broad.mit.edu	37	X	52677324	52677324	+	Silent	SNP	A	A	G			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:52677324A>G	uc004dqx.1	-	5	612	c.453T>C	c.(451-453)atT>atC	p.I151I		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ATGTCTTGTTAATCTTCTCAG	0.512													G	52677324	A	G	52677324	2	3	190	1	0	0	0	0	0	0	0	1	15208	358	13	4		4	SSX7	23	52677324	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	6186279	52677324	102593236	111	13224											
KIAA2022	340533	broad.mit.edu	37	X	73963402	73963402	+	Silent	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:73963402C>T	uc004eby.3	-	2	1607	c.990G>A	c.(988-990)caG>caA	p.Q330Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	330					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			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						GGGCATCTTCCTGCATCAAAA	0.448													T	73963402	C	T	73963402	2	4	190	1	0	0	0	0	0	0	0	1	8269	680	24	3		3	KIAA2022	23	73963402	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	21286078	73963402	81307158	112	13225											
PAK3	5063	broad.mit.edu	37	X	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:110406206_110406208delGAA	uc010npv.1	+	6	667_669	c.640_642delGAA	c.(640-642)gaadel	p.E218del	PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_In_Frame_Del_p.E203del|PAK3_uc004epa.2_In_Frame_Del_p.E197del	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			-	110406208	GAA	-	110406206	7	5	190	1	0	1	0	1	0	0	0	0	11402	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-27-1838-01A-01D-1494-08	36442804	110406206	44864354	113	13226											
KIAA1210	57481	broad.mit.edu	37	X	118220581	118220581	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:118220581C>T	uc004era.4	-	10	4612	c.4612G>A	c.(4612-4614)Gtt>Att	p.V1538I		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1538										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTATCTGCAACGTAAGATATT	0.507													T	118220581	C	T	118220581	3	4	190	1	0	0	0	0	1	0	0	0	8214	536	19	1	533	1	KIAA1210	23	118220581	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	7814375	118220581	37049979	114	13227											
DCAF12L1	139170	broad.mit.edu	37	X	125686304	125686304	+	Silent	SNP	C	C	T	rs141018282		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:125686304C>T	uc022cds.1	-	0	288	c.288G>A	c.(286-288)acG>acA	p.T96T	DCAF12L1_uc004eul.3_Silent_p.T96T	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	96								p.T96R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCTTGTTGACCGTGCCCAGCT	0.657													T	125686304	C	T	125686304	2	4	190	1	0	0	0	0	0	0	0	1	4264	639	23	2		2	DCAF12L1	23	125686304	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	7465723	125686304	29584256	115	13228											
USP26	83844	broad.mit.edu	37	X	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:132160788delA	uc011mvf.2	-	0	1513	c.1461delT	c.(1459-1461)tttfs	p.F487fs	USP26_uc010nrm.1_Frame_Shift_Del_p.F487fs	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	487					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.F487fs*7(2)|p.G488fs*6(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383													-	132160788	A	-	132160788	7	5	190	1	0	1	0	1	0	0	0	0	17054	127	5	0	1283	0	USP26	23	132160788	Frame_Shift_Del	DEL	A	TCGA-27-1838-01A-01D-1494-08	6474484	132160788	23109772	116	13229											
MAGEA10	4109	broad.mit.edu	37	X	151303934	151303934	+	Silent	SNP	G	G	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:151303934G>A	uc022cgz.1	-	0	159	c.159C>T	c.(157-159)ccC>ccT	p.P53P	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.P53P|MAGEA10_uc004ffm.2_Silent_p.P53P|MAGEA10_uc004ffl.3_Silent_p.P53P	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	53										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggagggaaaagagg	0.562													A	151303934	G	A	151303934	2	1	190	1	0	0	0	0	0	0	0	1	9164	987	35	3		3	MAGEA10	23	151303934	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	19143146	151303934	3966626	117	13230											
RENBP	5973	broad.mit.edu	37	X	153209567	153209567	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:153209567C>A	uc004fjo.2	-	2	348	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	RENBP_uc011mzh.1_Missense_Mutation_p.D60Y	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	60					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)				N-Acetyl-D-glucosamine(DB00141)	TTGAGGTCATCATACACCCGC	0.632													A	153209567	C	A	153209567	3	1	190	1	0	0	0	0	1	0	0	0	13225	826	29	5	1141	5	RENBP	23	153209567	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	1905633	153209567	2060993	118	13231											
LOC649330	649330	broad.mit.edu	37	1	12907821	12907821	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:12907821A>T	uc010obf.2	-	1	548	c.322T>A	c.(322-324)Tct>Act	p.S108T	LOC649330_uc009vno.2_Missense_Mutation_p.S108T	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	108							nucleic acid binding|nucleotide binding										AAGTCAAAAGAGGAGCCGTAC	0.493													T	12907821	A	T	12907821	3	4	191	1	0	0	0	0	1	0	0	0	8885	304	11	5	563	5	LOC649330	1	12907821	Missense_Mutation	SNP	A	TCGA-27-2518-01A-01D-1494-08		12907821	236342800	1	13232											
HPCAL4	51440	broad.mit.edu	37	1	40150150	40150150	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:40150150G>A	uc001cdr.3	-	1	246	c.126C>T	c.(124-126)atC>atT	p.I42I	HPCAL4_uc010oix.2_Silent_p.I42I	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	42	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCAGGTTGAGGATGCCGCTGG	0.627													A	40150150	G	A	40150150	2	1	191	1	0	0	0	0	0	0	0	1	7331	1164	41	3		3	HPCAL4	1	40150150	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	27242329	40150150	209100471	2	13233											
ELTD1	64123	broad.mit.edu	37	1	79383365	79383365	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:79383365T>C	uc001diq.4	-	11	1859	c.1703A>G	c.(1702-1704)aAc>aGc	p.N568S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	568					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATAAAGTTGTTTTCGGTGCT	0.279													C	79383365	T	C	79383365	3	2	191	1	0	0	0	0	1	0	0	0	5084	1725	60	4	385	4	ELTD1	1	79383365	Missense_Mutation	SNP	T	TCGA-27-2518-01A-01D-1494-08	39233215	79383365	169867256	3	13234											
SLC26A9	115019	broad.mit.edu	37	1	205890886	205890886	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:205890886G>A	uc001hdp.3	-	16	1977	c.1863C>T	c.(1861-1863)agC>agT	p.S621S	SLC26A9_uc001hdo.3_Silent_p.S289S|SLC26A9_uc001hdq.3_Silent_p.S621S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	621	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TATAGGACACGCTGGTGCCGT	0.642													A	205890886	G	A	205890886	2	1	191	1	0	0	0	0	0	0	0	1	14524	1078	38	1		1	SLC26A9	1	205890886	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	126507521	205890886	43359735	4	13235											
WDR64	128025	broad.mit.edu	37	1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:241959665G>A	uc001hzg.2	+	25	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_uc021plh.1_Missense_Mutation_p.R679H|WDR64_uc021pli.1_Missense_Mutation_p.R605H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1052										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGTTCAACGTGAAAAAGTA	0.378													A	241959665	G	A	241959665	3	1	191	1	0	0	0	0	1	0	0	0	17312	1145	40	1	3257	1	WDR64	1	241959665	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	36068779	241959665	7290956	5	13236											
KLF11	8462	broad.mit.edu	37	2	10186413	10186413	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:10186413G>T	uc002raf.1	+	1	341	c.179G>T	c.(178-180)aGa>aTa	p.R60I	KLF11_uc021vdq.1_Missense_Mutation_p.R43I|KLF11_uc010yjc.2_Missense_Mutation_p.R43I	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	60					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGGGGTCAAAGATCCCAGAAA	0.537													T	10186413	G	T	10186413	3	4	191	1	0	0	0	0	1	0	0	0	8339	942	33	5	185	5	KLF11	2	10186413	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		10186413	233012960	6	13237											
LAPTM4A	9741	broad.mit.edu	37	2	20240757	20240757	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:20240757T>A	uc002rdm.3	-	1	635	c.127A>T	c.(127-129)Atg>Ttg	p.M43L	LAPTM4A_uc010yjx.2_Missense_Mutation_p.M43L	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	Homo sapiens lysosomal protein transmembrane 4 alpha (LAPTM4A), mRNA.	43					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAATTGCCATCAATAGGTTT	0.378													A	20240757	T	A	20240757	3	1	191	1	0	0	0	0	1	0	0	0	8624	1435	50	5	598	5	LAPTM4A	2	20240757	Missense_Mutation	SNP	T	TCGA-27-2518-01A-01D-1494-08	10054344	20240757	222958616	7	13238											
PROM2	150696	broad.mit.edu	37	2	95947041	95947041	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:95947041C>T	uc002suk.3	+	11	1612	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	PROM2_uc002suh.2_Silent_p.F493F|PROM2_uc002sui.3_Silent_p.F493F|PROM2_uc002suj.3_Silent_p.F147F|PROM2_uc002sul.3_Silent_p.F19F|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	493						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGGTGTTCGCCACCTTCC	0.642													T	95947041	C	T	95947041	2	4	191	1	0	0	0	0	0	0	0	1	12556	883	31	2		2	PROM2	2	95947041	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	75706284	95947041	147252332	8	13239											
DPP10	57628	broad.mit.edu	37	2	116534868	116534868	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:116534868C>A	uc002tle.3	+	13	1339	c.1318C>A	c.(1318-1320)Caa>Aaa	p.Q440K	DPP10_uc002tla.2_Missense_Mutation_p.Q436K|DPP10_uc002tlb.2_Missense_Mutation_p.Q386K|DPP10_uc002tlc.2_Missense_Mutation_p.Q432K|DPP10_uc002tlf.2_Missense_Mutation_p.Q429K	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	436					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGAAACTACTCAAAAAATGTG	0.378													A	116534868	C	A	116534868	3	1	191	1	0	0	0	0	1	0	0	0	4727	827	29	5	1531	5	DPP10	2	116534868	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	20587827	116534868	126664505	9	13240											
SCN2A	6326	broad.mit.edu	37	2	166179852	166179852	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:166179852C>T	uc002udc.3	+	11	2148	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	SCN2A_uc002udd.3_Missense_Mutation_p.R620W|SCN2A_uc002ude.3_Missense_Mutation_p.R620W	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	620					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACATGGAGAACGGCGCCACAG	0.562													T	166179852	C	T	166179852	3	4	191	1	0	0	0	0	1	0	0	0	13916	527	19	1	1996	1	SCN2A	2	166179852	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	49644984	166179852	77019521	10	13241											
SPEG	10290	broad.mit.edu	37	2	220329174	220329174	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:220329174G>A	uc010fwg.3	+	8	2725	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Missense_Mutation_p.V117M|SPEG_uc002vln.1_Missense_Mutation_p.V117M|SPEG_uc002vlp.1_Missense_Mutation_p.V117M|SPEG_uc002vlq.3_Missense_Mutation_p.V60M	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	909	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			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)		CCGCCAGCCCGTGCGCCCAGA	0.662													A	220329174	G	A	220329174	3	1	191	1	0	0	0	0	1	0	0	0	15035	1145	40	1	2759	1	SPEG	2	220329174	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	54149322	220329174	22870199	11	13242											
SPHKAP	80309	broad.mit.edu	37	2	228856023	228856023	+	Nonsense_Mutation	SNP	T	T	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:228856023T>A	uc002vpq.2	-	9	4788	c.4741A>T	c.(4741-4743)Aag>Tag	p.K1581*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.K1552*|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1581						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTAAGAATCTTCTTTTCTTCT	0.403													A	228856023	T	A	228856023	4	1	191	1	0	0	0	0	0	1	0	0	15047	1792	62	5	373	5	SPHKAP	2	228856023	Nonsense_Mutation	SNP	T	TCGA-27-2518-01A-01D-1494-08	8526849	228856023	14343350	12	13243											
IL5RA	3568	broad.mit.edu	37	3	3139660	3139660	+	Silent	SNP	A	A	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:3139660A>C	uc011ask.2	-	7	1247	c.603T>G	c.(601-603)acT>acG	p.T201T	IL5RA_uc010hbq.3_Silent_p.T201T|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.T201T|IL5RA_uc011asl.2_Silent_p.T201T|IL5RA_uc011asm.1_Silent_p.T201T|IL5RA_uc010hbt.2_Silent_p.T201T|IL5RA_uc011asn.1_Silent_p.T201T|IL5RA_uc010hbu.2_Silent_p.T201T	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	201					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TGAGGATAAAAGTCCTGGGAA	0.493													C	3139660	A	C	3139660	2	2	191	1	0	0	0	0	0	0	0	1	7700	59	3	5		5	IL5RA	3	3139660	Silent	SNP	A	TCGA-27-2518-01A-01D-1494-08		3139660	194882770	13	13244											
FAM19A1	407738	broad.mit.edu	37	3	68466552	68466552	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:68466552C>T	uc003dnd.3	+	2	457	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	FAM19A1_uc003dne.3_Missense_Mutation_p.R81W|FAM19A1_uc003dng.3_Missense_Mutation_p.R81W	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	81						endoplasmic reticulum|extracellular region		p.R81Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		AACAAGAAACCGGCCTTCTTG	0.418													T	68466552	C	T	68466552	3	4	191	1	0	0	0	0	1	0	0	0	5531	643	23	2	247	2	FAM19A1	3	68466552	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	65326892	68466552	129555878	14	13245											
HPS3	84343	broad.mit.edu	37	3	148868422	148868422	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:148868422G>A	uc003ewu.1	+	5	1340	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	HPS3_uc011bnq.1_Silent_p.A235A|HPS3_uc021xfk.1_Silent_p.A293A	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	400						cytoplasm				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)			GGTGCAGTGCGGCGGCAGCTC	0.532									Hermansky-Pudlak syndrome				A	148868422	G	A	148868422	2	1	191	1	0	0	0	0	0	0	0	1	7340	1103	39	2		2	HPS3	3	148868422	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	80401870	148868422	49154008	15	13246											
CP	1356	broad.mit.edu	37	3	148925268	148925268	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:148925268G>T	uc003ewy.4	-	4	1171	c.918C>A	c.(916-918)aaC>aaA	p.N306K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.N87K|CP_uc003ewz.3_Missense_Mutation_p.N306K|CP_uc010hvf.1_Missense_Mutation_p.N32K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	306	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGTAGTTCTTGTTAGTCAGTG	0.458													T	148925268	G	T	148925268	3	4	191	1	0	0	0	0	1	0	0	0	3787	1368	48	5	2339	5	CP	3	148925268	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	56846	148925268	49097162	16	13247											
SAMD7	344658	broad.mit.edu	37	3	169654200	169654200	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:169654200G>C	uc003fgd.3	+	7	1382	c.1115G>C	c.(1114-1116)gGa>gCa	p.G372A	SAMD7_uc003fge.3_Missense_Mutation_p.G372A|SAMD7_uc011bpo.2_Missense_Mutation_p.G273A	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	372	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGCACTATGGGATTAAAGCTA	0.343													C	169654200	G	C	169654200	3	2	191	1	0	0	0	0	1	0	0	0	13824	1174	41	5	1137	5	SAMD7	3	169654200	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	20728932	169654200	28368230	17	13248											
PCDHB12	56124	broad.mit.edu	37	5	140589502	140589502	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:140589502C>T	uc003liz.3	+	0	1212	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	PCDHB12_uc011dak.2_Silent_p.N4N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	341	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGTAAACGACAACGCTC	0.413													T	140589502	C	T	140589502	2	4	191	1	0	0	0	0	0	0	0	1	11537	535	19	1		1	PCDHB12	5	140589502	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		140589502	40325758	18	13249											
GFPT2	9945	broad.mit.edu	37	5	179731784	179731784	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:179731784G>A	uc003mlw.1	-	16	1928	c.1830C>T	c.(1828-1830)gtC>gtT	p.V610V		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	610	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGCGGGCCGTGACTTGCTGCA	0.592													A	179731784	G	A	179731784	2	1	191	1	0	0	0	0	0	0	0	1	6346	1277	45	3		3	GFPT2	5	179731784	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	39142282	179731784	1183476	19	13250											
GFPT2	9945	broad.mit.edu	37	5	179731922	179731922	+	Silent	SNP	G	G	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:179731922G>C	uc003mlw.1	-	16	1790	c.1692C>G	c.(1690-1692)acC>acG	p.T564T		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	564	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGTGCATGTAGGTTATCTCTT	0.537													C	179731922	G	C	179731922	2	2	191	1	0	0	0	0	0	0	0	1	6346	987	35	5		5	GFPT2	5	179731922	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	138	179731922	1183338	20	13251											
VARS2	57176	broad.mit.edu	37	6	30883807	30883807	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr6:30883807G>T	uc011dmz.2	+	5	727	c.646G>T	c.(646-648)Gca>Tca	p.A216S	VARS2_uc003nsc.2_Missense_Mutation_p.A186S|VARS2_uc003nsd.3_Missense_Mutation_p.A186S|VARS2_uc011dmx.2_Missense_Mutation_p.A186S|VARS2_uc011dmy.2_Missense_Mutation_p.A46S|VARS2_uc011dna.2_Missense_Mutation_p.A186S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	186					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTCAGATCATGCAGGAATTGC	0.478													T	30883807	G	T	30883807	3	4	191	1	0	0	0	0	1	0	0	0	17121	1319	46	5	668	5	VARS2	6	30883807	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		30883807	140231260	21	13252											
CLCN1	1180	broad.mit.edu	37	7	143047569	143047569	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr7:143047569G>C	uc003wcr.1	+	21	2595	c.2508_splice	c.e21+1	p.K836_splice	CLCN1_uc011ktc.1_Splice_Site_p.K448_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	836	CBS 2.				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)					CCCTGCACAAGGTGAGTCTTT	0.567													C	143047569	G	C	143047569	3	2	191	1	0	0	0	0	1	0	0	0	3462	1014	35	5	2590	5	CLCN1	7	143047569	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		143047569	16091094	22	13253											
WHSC1L1	54904	broad.mit.edu	37	8	38148069	38148069	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:38148069G>A	uc003xli.3	-	16	3560	c.3042C>T	c.(3040-3042)ggC>ggT	p.G1014G	WHSC1L1_uc011lbm.2_Silent_p.G1014G|WHSC1L1_uc010lwe.3_Silent_p.G965G	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1014	PWWP 2.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGAACACTCTGCCCTGGTGTA	0.463			T	NUP98	AML								A	38148069	G	A	38148069	2	1	191	1	0	0	0	0	0	0	0	1	17360	1306	46	3		3	WHSC1L1	8	38148069	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08		38148069	108215953	23	13254											
JPH1	56704	broad.mit.edu	37	8	75171695	75171695	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:75171695C>T	uc003yae.3	-	2	1223	c.1183G>A	c.(1183-1185)Gcg>Acg	p.A395T	JPH1_uc003yaf.3_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(2)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCCAGCGCGGCCTGGTCG	0.597													T	75171695	C	T	75171695	3	4	191	1	0	0	0	0	1	0	0	0	7960	768	27	1	814	1	JPH1	8	75171695	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	37023626	75171695	71192327	24	13255											
RALYL	138046	broad.mit.edu	37	8	85774546	85774546	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:85774546C>T	uc003yct.4	+	5	602	c.468C>T	c.(466-468)caC>caT	p.H156H	RALYL_uc003ycq.4_Silent_p.H143H|RALYL_uc003ycr.4_Silent_p.H143H|RALYL_uc003ycs.4_Silent_p.H143H|RALYL_uc010lzy.3_Silent_p.H132H|RALYL_uc003ycu.4_Silent_p.H70H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	143							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTGATTACCACGGGCGTGTGC	0.483													T	85774546	C	T	85774546	2	4	191	1	0	0	0	0	0	0	0	1	13020	535	19	1		1	RALYL	8	85774546	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	10602851	85774546	60589476	25	13256											
CORO2A	7464	broad.mit.edu	37	9	100897128	100897128	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr9:100897128G>A	uc004aym.3	-	3	544	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CORO2A_uc004ayl.3_Missense_Mutation_p.T143M	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	143					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTTGGCGGCCGTGGGGTGCCA	0.587													A	100897128	G	A	100897128	3	1	191	1	0	0	0	0	1	0	0	0	3756	1145	40	1	1185	1	CORO2A	9	100897128	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		100897128	40316303	26	13257											
OR51B6	390058	broad.mit.edu	37	11	5373571	5373571	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:5373571C>A	uc010qzb.2	+	0	834	c.834C>A	c.(832-834)caC>caA	p.H278Q	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACATCCACTTCCTTTTCC	0.398													A	5373571	C	A	5373571	3	1	191	1	0	0	0	0	1	0	0	0	11092	564	20	5	836	5	OR51B6	11	5373571	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		5373571	129632945	27	13258											
ADM	133	broad.mit.edu	37	11	10327296	10327296	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:10327296C>T	uc001mil.1	+	1	205	c.49C>T	c.(49-51)Cta>Tta	p.L17L		NM_001124	NP_001115	P35318	ADML_HUMAN	Homo sapiens adrenomedullin (ADM), mRNA.	17					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCTCGCCTTCCTAGGCGCTGA	0.612													T	10327296	C	T	10327296	2	4	191	1	0	0	0	0	0	0	0	1	321	680	24	3		3	ADM	11	10327296	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	4953725	10327296	124679220	28	13259											
CHST1	8534	broad.mit.edu	37	11	45671304	45671304	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:45671304C>T	uc021qgn.1	-	0	1170	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	CHST1_uc001mys.2_Silent_p.S390S	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	390					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTCCTCCTCCGAGGCGGCGA	0.692													T	45671304	C	T	45671304	2	4	191	1	0	0	0	0	0	0	0	1	3397	639	23	2		2	CHST1	11	45671304	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	35344008	45671304	89335212	29	13260											
OR4P4	81300	broad.mit.edu	37	11	55406609	55406609	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:55406609C>T	uc010rij.2	+	0	776	c.776C>T	c.(775-777)cCg>cTg	p.P259L		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TACATTAGACCGGTCACAACA	0.418													T	55406609	C	T	55406609	3	4	191	1	0	0	0	0	1	0	0	0	11080	652	23	2	778	2	OR4P4	11	55406609	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	9735305	55406609	79599907	30	13261											
OR5D13	390142	broad.mit.edu	37	11	55541762	55541762	+	Silent	SNP	G	G	A	rs150209335	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:55541762G>A	uc010ril.2	+	0	849	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A283A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACACAGTGGCGATTCCAATGC	0.363													A	55541762	G	A	55541762	2	1	191	1	0	0	0	0	0	0	0	1	11154	1045	37	2		2	OR5D13	11	55541762	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	135153	55541762	79464754	31	13262											
OR6Q1	219952	broad.mit.edu	37	11	57798597	57798597	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:57798597G>A	uc010rjz.2	+	0	173	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				CACCGACTACGGAGACCCATG	0.483													A	57798597	G	A	57798597	3	1	191	1	0	0	0	0	1	0	0	0	11208	1116	39	2	175	2	OR6Q1	11	57798597	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	2256835	57798597	77207919	32	13263											
PLAC1L	219990	broad.mit.edu	37	11	59807922	59807922	+	Translation_Start_Site	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:59807922C>T	uc001nol.3	+	0						NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.							extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TCTGCTCAGACGAAGGTCTCC	0.473													T	59807922	C	T	59807922	1	4	191	1	0	0	0	0	0	0	0	0	12013	551	19	1		1	PLAC1L	11	59807922	Translation_Start_Site	SNP	C	TCGA-27-2518-01A-01D-1494-08	2009325	59807922	75198594	33	13264											
SLC22A11	55867	broad.mit.edu	37	11	64329558	64329558	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:64329558G>A	uc001oai.3	+	2	954	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	SLC22A11_uc001oah.1_Missense_Mutation_p.R159H|SLC22A11_uc009ypq.3_Missense_Mutation_p.V194I|SLC22A11_uc001oak.1_Missense_Mutation_p.V23I	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	194					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCCAACATTCGTCATCTACTG	0.622											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64329558	G	A	64329558	3	1	191	1	0	0	0	0	1	0	0	0	14442	1145	40	1	590	1	SLC22A11	11	64329558	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	4521636	64329558	70676958	34	13265											
RAB38	23682	broad.mit.edu	37	11	87847172	87847172	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:87847172C>A	uc001pcj.2	-	2	703	c.620G>T	c.(619-621)gGc>gTc	p.G207V		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	207					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTGGCACAGCCAGAGCAGCT	0.473													A	87847172	C	A	87847172	3	1	191	1	0	0	0	0	1	0	0	0	12928	739	26	5	19	5	RAB38	11	87847172	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	23517614	87847172	47159344	35	13266											
CCND2	894	broad.mit.edu	37	12	4409083	4409083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:4409083C>T	uc001qmo.3	+	4	1083	c.778C>T	c.(778-780)Cag>Tag	p.Q260*		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	260					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TAGCCTGCAGCAGTACCGTCA	0.542			T	IGL@	"NHL,CLL"								T	4409083	C	T	4409083	4	4	191	1	0	0	0	0	0	1	0	0	2917	711	25	3	796	3	CCND2	12	4409083	Nonsense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		4409083	129442812	36	13267											
PRPF40B	25766	broad.mit.edu	37	12	50030609	50030609	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:50030609C>T	uc001rur.1	+	14	1534	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	PRPF40B_uc001rup.1_Missense_Mutation_p.R513C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R485C|PRPF40B_uc001rus.1_Missense_Mutation_p.R434C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	491					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						ACGCCAACAACGCAAGAATCG	0.577											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50030609	C	T	50030609	3	4	191	1	0	0	0	0	1	0	0	0	12572	536	19	1	1529	1	PRPF40B	12	50030609	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	45621526	50030609	83821286	37	13268											
LEMD3	23592	broad.mit.edu	37	12	65564282	65564282	+	Silent	SNP	C	C	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:65564282C>A	uc001ssl.2	+	0	932	c.906C>A	c.(904-906)gcC>gcA	p.A302A	LEMD3_uc009zqo.2_Silent_p.A302A	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	302					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CTAAATCGGCCGGCGGCAGGC	0.622													A	65564282	C	A	65564282	2	1	191	1	0	0	0	0	0	0	0	1	8721	639	23	5		5	LEMD3	12	65564282	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	15533673	65564282	68287613	38	13269											
GLT1D1	144423	broad.mit.edu	37	12	129360521	129360521	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:129360521G>A	uc010tbh.1	+	1	107	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	GLT1D1_uc001uhx.1_Missense_Mutation_p.R44Q|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	44					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTGAAAGCCGATCTGAGATT	0.488													A	129360521	G	A	129360521	3	1	191	1	0	0	0	0	1	0	0	0	6465	1058	37	2	137	2	GLT1D1	12	129360521	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	63796239	129360521	4491374	39	13270											
F7	2155	broad.mit.edu	37	13	113771870	113771870	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr13:113771870C>T	uc001vsv.3	+	7	816	c.765C>T	c.(763-765)ttC>ttT	p.F255F	F7_uc001vsw.3_Silent_p.F233F|F7_uc010tjt.2_Silent_p.F186F	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	255	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCACTGTTTCGACAAAATCA	0.622													T	113771870	C	T	113771870	2	4	191	1	0	0	0	0	0	0	0	1	5349	883	31	2		2	F7	13	113771870	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		113771870	1398008	40	13271											
STYX	6815	broad.mit.edu	37	14	53217446	53217446	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:53217446C>T	uc010tqy.2	+	4	252	c.190C>T	c.(190-192)Cga>Tga	p.R64*	STYX_uc001xaa.3_Nonsense_Mutation_p.R64*	NM_001130701	NP_660294	Q8WUJ0	STYX_HUMAN	Homo sapiens serine/threonine/tyrosine interacting protein (STYX), transcript variant 2, mRNA.	64					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AATATGCATACGACAAAATAT	0.289													T	53217446	C	T	53217446	4	4	191	1	0	0	0	0	0	1	0	0	15359	528	19	1	204	1	STYX	14	53217446	Nonsense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		53217446	54132094	41	13272											
AHNAK2	113146	broad.mit.edu	37	14	105418809	105418809	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:105418809G>A	uc010axc.1	-	6	3099	c.2979C>T	c.(2977-2979)gcC>gcT	p.A993A	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A893A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	993						nucleus				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)			TGCTGTCTTTGGCAGTCACGT	0.602													A	105418809	G	A	105418809	2	1	191	1	0	0	0	0	0	0	0	1	415	1335	47	3		3	AHNAK2	14	105418809	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	52201363	105418809	1930731	42	13273											
SYNM	23336	broad.mit.edu	37	15	99671205	99671205	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr15:99671205C>T	uc002bup.3	+	4	2757	c.2637C>T	c.(2635-2637)gaC>gaT	p.D879D	SYNM_uc002buo.3_Silent_p.D879D|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	880	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CACAGAAGGACGGTGCAGTGG	0.582													T	99671205	C	T	99671205	2	4	191	1	0	0	0	0	0	0	0	1	15452	535	19	1		1	SYNM	15	99671205	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		99671205	2860187	43	13274											
GRIN2A	2903	broad.mit.edu	37	16	9857448	9857448	+	Missense_Mutation	SNP	C	C	T	rs149745535		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:9857448C>T	uc010uym.2	-	13	4263	c.3953G>A	c.(3952-3954)cGg>cAg	p.R1318Q	GRIN2A_uc002czo.4_Missense_Mutation_p.R1318Q|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1318					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1318W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCAGAAGCCGTTCCCTGTC	0.527													T	9857448	C	T	9857448	3	4	191	1	0	0	0	0	1	0	0	0	6779	652	23	2	445	2	GRIN2A	16	9857448	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		9857448	80497305	44	13275											
DNAH3	55567	broad.mit.edu	37	16	21156695	21156695	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:21156695C>G	uc010vbe.2	-	2	255	c.255G>C	c.(253-255)ttG>ttC	p.L85F	DNAH3_uc002die.2_Missense_Mutation_p.L56F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	85	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCGTTGCATCAAGGGCGGGT	0.527													G	21156695	C	G	21156695	3	3	191	1	0	0	0	0	1	0	0	0	4603	825	29	5	12334	5	DNAH3	16	21156695	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	11299247	21156695	69198058	45	13276											
SEZ6L2	26470	broad.mit.edu	37	16	29884862	29884862	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:29884862C>T	uc010vec.2	-	12	2538	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.A695T|SEZ6L2_uc002dur.4_Missense_Mutation_p.A695T|SEZ6L2_uc002duq.4_Missense_Mutation_p.A765T|SEZ6L2_uc010ved.2_Missense_Mutation_p.A721T|SEZ6L2_uc002dus.4_Missense_Mutation_p.A651T	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	765	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTCACAGGCGCATTTGGGG	0.672													T	29884862	C	T	29884862	3	4	191	1	0	0	0	0	1	0	0	0	14144	768	27	1	502	1	SEZ6L2	16	29884862	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	8728167	29884862	60469891	46	13277											
CMTM2	146225	broad.mit.edu	37	16	66613682	66613682	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:66613682C>T	uc002ept.3	+	0	332	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	CMTM2_uc010cdu.3_Missense_Mutation_p.P58S	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.	58					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GGCGGTGCAGCCCAAGCACGA	0.557													T	66613682	C	T	66613682	3	4	191	1	0	0	0	0	1	0	0	0	3583	739	26	3	174	3	CMTM2	16	66613682	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	36728820	66613682	23741071	47	13278											
DNAI2	64446	broad.mit.edu	37	17	72308276	72308276	+	Silent	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr17:72308276G>A	uc002jkf.3	+	11	1739	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	DNAI2_uc002jkg.3_Silent_p.A531A|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	543					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACCTGGAGGCGCTGGTCAGCA	0.617									Kartagener syndrome				A	72308276	G	A	72308276	2	1	191	1	0	0	0	0	0	0	0	1	4610	1074	38	1		1	DNAI2	17	72308276	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08		72308276	8886934	48	13279											
QRICH2	84074	broad.mit.edu	37	17	74276772	74276772	+	Frame_Shift_Del	DEL	T	T	-			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr17:74276772delT	uc002jrd.1	-	9	4106	c.3926delA	c.(3925-3927)aagfs	p.K1309fs	QRICH2_uc010dgw.1_Frame_Shift_Del_p.K153fs	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1309							protein binding			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						CCTGTTGGCCTTTTCCTTTTC	0.587													-	74276772	T	-	74276772	7	5	191	1	0	1	0	1	0	0	0	0	12880	1609	56	0	1105	0	QRICH2	17	74276772	Frame_Shift_Del	DEL	T	TCGA-27-2518-01A-01D-1494-08	1968496	74276772	6918438	49	13280											
SERPINB13	5275	broad.mit.edu	37	18	61255920	61255920	+	Missense_Mutation	SNP	G	G	A	rs139825462		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr18:61255920G>A	uc010xep.2	+	1	187	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	SERPINB13_uc002ljc.3_Missense_Mutation_p.V7I|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	7					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.V7I(6)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACTTGGCGCCGTCAGCACTCG	0.418													A	61255920	G	A	61255920	3	1	191	1	0	0	0	0	1	0	0	0	14100	1145	40	1	21	1	SERPINB13	18	61255920	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		61255920	16821328	50	13281											
CLEC4M	10332	broad.mit.edu	37	19	7833731	7833731	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:7833731C>T	uc010dvt.3	+	6	1175	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	CLEC4M_uc002mih.3_Missense_Mutation_p.R330W|CLEC4M_uc010xjw.2_Missense_Mutation_p.R286W|CLEC4M_uc010dvs.3_Missense_Mutation_p.R329W|CLEC4M_uc010xjx.2_Missense_Mutation_p.R302W|CLEC4M_uc002mhz.3_Missense_Mutation_p.A223V|CLEC4M_uc002mic.3_Missense_Mutation_p.A287V|CLEC4M_uc002mia.3_Missense_Mutation_p.R217W	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	353	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			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGCTTCCAGCGGTACTGGAA	0.498													T	7833731	C	T	7833731	3	4	191	1	0	0	0	0	1	0	0	0	3518	768	27	1	1104	1	CLEC4M	19	7833731	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		7833731	51295252	51	13282											
SLC1A6	6511	broad.mit.edu	37	19	15067440	15067440	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:15067440C>T	uc002naa.1	-	5	1024	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Silent_p.L275L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	339					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGTACATGCCCAGCTGACCCC	0.587													T	15067440	C	T	15067440	2	4	191	1	0	0	0	0	0	0	0	1	14436	581	21	3		3	SLC1A6	19	15067440	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	7233709	15067440	44061543	52	13283											
KCNN1	3780	broad.mit.edu	37	19	18084899	18084899	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:18084899G>A	uc002nht.3	+	2	512	c.202G>A	c.(202-204)Gat>Aat	p.D68N	KCNN1_uc010xqa.1_Missense_Mutation_p.D68N	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	68					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GGACCAGGACGATGACGAGGA	0.701													A	18084899	G	A	18084899	3	1	191	1	0	0	0	0	1	0	0	0	8078	1058	37	2	204	2	KCNN1	19	18084899	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	3017459	18084899	41044084	53	13284											
PSG4	5675	broad.mit.edu	37	19	43414919	43414919	+	Silent	SNP	C	C	T	rs1065506		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:43414919C>T	uc002ovj.1	-	2	618	c.519G>A	c.(517-519)ccG>ccA	p.P173P	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.P173P	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	174	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGCTTGCATCCGGAGTCTCAG	0.532													T	43414919	C	T	43414919	2	4	191	1	0	0	0	0	0	0	0	1	12657	639	23	2		2	PSG4	19	43414919	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	25330020	43414919	15714064	54	13285											
SIGLEC5	8778	broad.mit.edu	37	19	52115643	52115643	+	Silent	SNP	G	G	A	rs141897891	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:52115643G>A	uc002pxe.3	-	8	1636	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	499			P -> A (in dbSNP:rs3829655).		cell adhesion	integral to membrane	sugar binding			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)		CTTGATCTCCGGGGCTGTCTG	0.507													A	52115643	G	A	52115643	2	1	191	1	0	0	0	0	0	0	0	1	14311	1103	39	2		2	SIGLEC5	19	52115643	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	8700724	52115643	7013340	55	13286											
NLRP5	126206	broad.mit.edu	37	19	56515208	56515208	+	Silent	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:56515208C>T	uc002qmj.3	+	1	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y	NLRP5_uc002qmi.3_Silent_p.Y63Y	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	63	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTTCCAGCTACGGGCTGCAAT	0.423													T	56515208	C	T	56515208	2	4	191	1	0	0	0	0	0	0	0	1	10480	547	19	1		1	NLRP5	19	56515208	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	4399565	56515208	2613775	56	13287											
SALL4	57167	broad.mit.edu	37	20	50407509	50407509	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr20:50407509C>T	uc002xwh.4	-	1	1614	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	505					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G505S(2)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCAGGTCACCGGGCAAGGAG	0.567													T	50407509	C	T	50407509	3	4	191	1	0	0	0	0	1	0	0	0	13813	652	23	2	1660	2	SALL4	20	50407509	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		50407509	12618011	57	13288											
ZGPAT	84619	broad.mit.edu	37	20	62365995	62365995	+	Splice_Site	SNP	A	A	C			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr20:62365995A>C	uc002ygk.3	+	5	1061	c.872_splice	c.e5-2	p.V291_splice	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Intron|ZGPAT_uc002ygm.3_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc002ygn.4_Intron|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	291					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CATCTCTTGCAGTGGTGGGGT	0.622													C	62365995	A	C	62365995	5	2	191	1	0	0	0	0	0	0	1	0	17671	202	7	5	884	5	ZGPAT	20	62365995	Splice_Site	SNP	A	TCGA-27-2518-01A-01D-1494-08	11958486	62365995	659525	58	13289											
NRIP1	8204	broad.mit.edu	37	21	16339283	16339283	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr21:16339283G>T	uc021whl.1	-	0	1231	c.1231C>A	c.(1231-1233)Cct>Act	p.P411T	NRIP1_uc002yjx.2_Missense_Mutation_p.P411T	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	411	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATAGTTGTAGGTGTACTACTT	0.373													T	16339283	G	T	16339283	3	4	191	1	0	0	0	0	1	0	0	0	10652	1261	44	5	2249	5	NRIP1	21	16339283	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		16339283	31790612	59	13290											
TUBA8	51807	broad.mit.edu	37	22	18609536	18609536	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr22:18609536G>A	uc002znw.1	+	2	1160	c.863G>A	c.(862-864)cGc>cAc	p.R288H	TUBA8_uc002znv.2_Missense_Mutation_p.R264H|TUBA8_uc021wkt.1_Missense_Mutation_p.R198H	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	264					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCCTACCCCCGCATCCACTTC	0.567													A	18609536	G	A	18609536	3	1	191	1	0	0	0	0	1	0	0	0	16747	1087	38	1	805	1	TUBA8	22	18609536	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		18609536	32695030	60	13291											
SCUBE1	80274	broad.mit.edu	37	22	43600126	43600126	+	Silent	SNP	G	G	A	rs140846155	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr22:43600126G>A	uc003bdt.2	-	21	2971	c.2844C>T	c.(2842-2844)gaC>gaT	p.D948D		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	948					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCGCCAGCACGTCGAAGAGGG	0.572													A	43600126	G	A	43600126	2	1	191	1	0	0	0	0	0	0	0	1	13944	1136	40	1		1	SCUBE1	22	43600126	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	24990590	43600126	7704440	61	13292											
RAB9A	9367	broad.mit.edu	37	X	13727279	13727279	+	Silent	SNP	C	C	G	rs146572677	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chrX:13727279C>G	uc022bte.1	+	0	414	c.414C>G	c.(412-414)gcC>gcG	p.A138A	RAB9A_uc004cvm.3_Silent_p.A138A|RAB9A_uc010neh.3_Silent_p.A138A	NM_004251	NP_004242	P51151	RAB9A_HUMAN	Homo sapiens RAB9A, member RAS oncogene family (RAB9A), transcript variant 1, mRNA.	138					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	p.A138V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CAGAAGAAGCCCAAGCTTGGT	0.458													G	13727279	C	G	13727279	2	3	191	1	0	0	0	0	0	0	0	1	12958	610	22	5		5	RAB9A	23	13727279	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		13727279	141543281	62	13293											
CHD5	26038	broad.mit.edu	37	1	6172293	6172293	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:6172293T>G	uc001amb.2	-	34	5158	c.5047A>C	c.(5047-5049)Aat>Cat	p.N1683H	CHD5_uc001alz.2_Missense_Mutation_p.N540H|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1683					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGTCACCATTTTGCTGTGTT	0.512													G	6172293	T	G	6172293	3	3	192	1	0	0	0	0	1	0	0	0	3328	1841	64	5	845	5	CHD5	1	6172293	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08		6172293	243078328	1	13294											
AIM1L	55057	broad.mit.edu	37	1	26658052	26658052	+	Silent	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:26658052G>A	uc001bmd.4	-	14	4392	c.4242C>T	c.(4240-4242)ggC>ggT	p.G1414G		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	369							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGGGAACTCGCCCTCAGAGA	0.567													A	26658052	G	A	26658052	2	1	192	1	0	0	0	0	0	0	0	1	431	1074	38	1		1	AIM1L	1	26658052	Silent	SNP	G	TCGA-27-2519-01A-01D-1494-08	20485759	26658052	222592569	2	13295											
WDR65	149465	broad.mit.edu	37	1	43663300	43663300	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:43663300G>A	uc021omk.1	+	6	1345	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R389H|WDR65_uc001ciq.2_Missense_Mutation_p.R400H|WDR65_uc001cip.2_Missense_Mutation_p.R400H	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	400								p.R400H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCATCCGCAAACCCCTT	0.458													A	43663300	G	A	43663300	3	1	192	1	0	0	0	0	1	0	0	0	17313	1087	38	1	1221	1	WDR65	1	43663300	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	17005248	43663300	205587321	3	13296											
PTPRF	5792	broad.mit.edu	37	1	44069848	44069848	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:44069848C>T	uc001cjr.3	+	15	3365	c.3025C>T	c.(3025-3027)Ccg>Tcg	p.P1009S	PTPRF_uc001cjs.3_Missense_Mutation_p.P1000S|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Missense_Mutation_p.P569S|PTPRF_uc001cjv.3_Missense_Mutation_p.P469S|PTPRF_uc001cjw.3_Missense_Mutation_p.P235S	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1009					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGGACCATGCCGGTGGAGCA	0.617													T	44069848	C	T	44069848	3	4	192	1	0	0	0	0	1	0	0	0	12801	739	26	3	3079	3	PTPRF	1	44069848	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	406548	44069848	205180773	4	13297											
TCHH	7062	broad.mit.edu	37	1	152080572	152080572	+	Missense_Mutation	SNP	T	T	A	rs71585886		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:152080572T>A	uc009wne.1	-	2	5393	c.5121A>T	c.(5119-5121)agA>agT	p.R1707S	TCHH_uc001ezp.2_Missense_Mutation_p.R1707S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1707	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGAATTTTCTCTCTCGTT	0.587													A	152080572	T	A	152080572	3	1	192	1	0	0	0	0	1	0	0	0	15697	1780	62	5	714	5	TCHH	1	152080572	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	108010724	152080572	97170049	5	13298											
TCHH	7062	broad.mit.edu	37	1	152081047	152081047	+	Missense_Mutation	SNP	C	C	T	rs71585886		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:152081047C>T	uc009wne.1	-	2	4918	c.4646G>A	c.(4645-4647)cGg>cAg	p.R1549Q	TCHH_uc001ezp.2_Missense_Mutation_p.R1549Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1549	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGACGCCGCTGTTGCCC	0.607													T	152081047	C	T	152081047	3	4	192	1	0	0	0	0	1	0	0	0	15697	652	23	2	1189	2	TCHH	1	152081047	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	475	152081047	97169574	6	13299											
OR2M2	391194	broad.mit.edu	37	1	248344068	248344068	+	Missense_Mutation	SNP	C	C	T	rs150685608		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:248344068C>T	uc010pzf.2	+	0	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CATGTACATACGGCCCACATC	0.517													T	248344068	C	T	248344068	3	4	192	1	0	0	0	0	1	0	0	0	11010	527	19	1	783	1	OR2M2	1	248344068	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	96263021	248344068	906553	7	13300											
C2orf89	129293	broad.mit.edu	37	2	85051138	85051138	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:85051138G>A	uc010ysl.2	-	5	1362	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	C2orf89_uc002sou.4_Missense_Mutation_p.R376W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	425						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CGCTGTGACCGCCTCCGCTTC	0.652													A	85051138	G	A	85051138	3	1	192	1	0	0	0	0	1	0	0	0	2203	1086	38	1	252	1	C2orf89	2	85051138	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		85051138	158148235	8	13301											
SCN9A	6335	broad.mit.edu	37	2	167055444	167055444	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:167055444C>T	uc010fpl.3	-	26	6013	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1902	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAGCGGTAACGTCTATAAGC	0.363													T	167055444	C	T	167055444	3	4	192	1	0	0	0	0	1	0	0	0	13925	536	19	1	265	1	SCN9A	2	167055444	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	82004306	167055444	76143929	9	13302											
PDE1A	5136	broad.mit.edu	37	2	183066517	183066517	+	Splice_Site	SNP	C	C	G			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:183066517C>G	uc002uos.3	-	10	1035	c.951_splice	c.e10-1	p.R317_splice	PDE1A_uc010zfp.1_Splice_Site_p.R213_splice|PDE1A_uc002uoq.1_Splice_Site_p.R317_splice|PDE1A_uc010zfq.1_Splice_Site_p.R317_splice|PDE1A_uc002uor.3_Splice_Site_p.R301_splice|PDE1A_uc002uou.3_Splice_Site_p.R283_splice	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	317	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCGAAGATCCCTGCAGAGTCA	0.363													G	183066517	C	G	183066517	5	3	192	1	0	0	0	0	0	0	1	0	11633	695	24	5	759	5	PDE1A	2	183066517	Splice_Site	SNP	C	TCGA-27-2519-01A-01D-1494-08	16011073	183066517	60132856	10	13303											
PASK	23178	broad.mit.edu	37	2	242054741	242054741	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:242054741C>T	uc002wao.2	-	12	3293	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	PASK_uc010zol.2_Missense_Mutation_p.A868T|PASK_uc010zom.2_Missense_Mutation_p.A1019T|PASK_uc010fzl.2_Missense_Mutation_p.A1054T|PASK_uc010zon.2_Missense_Mutation_p.A835T|PASK_uc021vzf.1_Missense_Mutation_p.A1054T|PASK_uc002wap.3_Missense_Mutation_p.A597T|PASK_uc002waq.3_Missense_Mutation_p.A1054T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1054	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GATAGAATTGCGATCTCTAAA	0.433													T	242054741	C	T	242054741	3	4	192	1	0	0	0	0	1	0	0	0	11472	768	27	1	835	1	PASK	2	242054741	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	58988224	242054741	1144632	11	13304											
OR5H6	79295	broad.mit.edu	37	3	97983628	97983628	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr3:97983628G>C	uc003dsi.1	+	0	500	c.500G>C	c.(499-501)gGt>gCt	p.G167A		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCATTTATAGGTGGCCTTCTT	0.348													C	97983628	G	C	97983628	3	2	192	1	0	0	0	0	1	0	0	0	11163	1261	44	5	502	5	OR5H6	3	97983628	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		97983628	100038802	12	13305											
REST	5978	broad.mit.edu	37	4	57797807	57797807	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:57797807C>T	uc003hch.3	+	3	3130	c.2783C>T	c.(2782-2784)aCg>aTg	p.T928M	REST_uc003hci.3_Missense_Mutation_p.T928M|REST_uc010ihf.3_Missense_Mutation_p.T602M	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	928					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AACTTGAATACGCCAGAGGGT	0.413													T	57797807	C	T	57797807	3	4	192	1	0	0	0	0	1	0	0	0	13234	536	19	1	2793	1	REST	4	57797807	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08		57797807	133356469	13	13306											
NDST4	64579	broad.mit.edu	37	4	115997685	115997685	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:115997685T>A	uc003ibu.3	-	1	1187	c.508A>T	c.(508-510)Aac>Tac	p.N170Y	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	170	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGTAAGCTGTTCTCATTGGCT	0.368													A	115997685	T	A	115997685	3	1	192	1	0	0	0	0	1	0	0	0	10258	1783	62	5	2162	5	NDST4	4	115997685	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	58199878	115997685	75156591	14	13307											
KLKB1	3818	broad.mit.edu	37	4	187173239	187173239	+	Missense_Mutation	SNP	C	C	A	rs61733605		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:187173239C>A	uc003iyy.3	+	10	1284	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	KLKB1_uc011clc.2_Missense_Mutation_p.Q203K|KLKB1_uc011cld.2_Missense_Mutation_p.Q367K	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	405	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTGGCCCTGGCAGGTGAGCCT	0.542													A	187173239	C	A	187173239	3	1	192	1	0	0	0	0	1	0	0	0	8412	711	25	5	1251	5	KLKB1	4	187173239	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	71175554	187173239	3981037	15	13308											
RAB3C	115827	broad.mit.edu	37	5	57913622	57913622	+	Silent	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:57913622C>T	uc003jrp.3	+	1	274	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.	59					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CATCTGCATTCGTCAGCACAG	0.383													T	57913622	C	T	57913622	2	4	192	1	0	0	0	0	0	0	0	1	12933	883	31	2		2	RAB3C	5	57913622	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08		57913622	123001638	16	13309											
MAP1B	4131	broad.mit.edu	37	5	71493036	71493036	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:71493036delA	uc003kbw.4	+	4	4095	c.3854delA	c.(3853-3855)gagfs	p.E1285fs	MAP1B_uc010iyw.1_Frame_Shift_Del_p.E1302fs|MAP1B_uc010iyx.1_Frame_Shift_Del_p.E1159fs|MAP1B_uc010iyy.1_Frame_Shift_Del_p.E1159fs	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1285						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACGCCCAATGAGATTAAAGTC	0.527													-	71493036	A	-	71493036	7	5	192	1	0	1	0	1	0	0	0	0	9228	304	11	0	3872	0	MAP1B	5	71493036	Frame_Shift_Del	DEL	A	TCGA-27-2519-01A-01D-1494-08	13579414	71493036	109422224	17	13310											
SV2C	22987	broad.mit.edu	37	5	75428035	75428035	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:75428035C>A	uc003kei.1	+	1	594	c.460C>A	c.(460-462)Ctt>Att	p.L154I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	154					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCAGTGGGCCCTTTTCTTCGT	0.527													A	75428035	C	A	75428035	3	1	192	1	0	0	0	0	1	0	0	0	15416	681	24	5	462	5	SV2C	5	75428035	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	3934999	75428035	105487225	18	13311											
GABRA1	2554	broad.mit.edu	37	5	161324208	161324208	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:161324208C>T	uc010jiw.3	+	10	1619	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	GABRA1_uc010jix.3_Missense_Mutation_p.P384L|GABRA1_uc010jiy.3_Missense_Mutation_p.P384L|GABRA1_uc003lyx.4_Missense_Mutation_p.P384L|GABRA1_uc010jiz.3_Missense_Mutation_p.P384L|GABRA1_uc010jja.3_Missense_Mutation_p.P384L|GABRA1_uc010jjb.3_Missense_Mutation_p.P384L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	384					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.P384Q(2)		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)	AGGGGCGACCCGGGCTTAGCC	0.458													T	161324208	C	T	161324208	3	4	192	1	0	0	0	0	1	0	0	0	6160	652	23	2	1185	2	GABRA1	5	161324208	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	85896173	161324208	19591052	19	13312											
PKHD1	5314	broad.mit.edu	37	6	51910930	51910930	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr6:51910930C>T	uc003pah.1	-	23	2740	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	PKHD1_uc003pai.3_Missense_Mutation_p.D822N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	822					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			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)					GTGAAGTCATCGGCATTATTC	0.443													T	51910930	C	T	51910930	3	4	192	1	0	0	0	0	1	0	0	0	11971	884	31	2	9975	2	PKHD1	6	51910930	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08		51910930	119204137	20	13313											
EZR	7430	broad.mit.edu	37	6	159192358	159192358	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr6:159192358G>A	uc003qrt.4	-	7	1092	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	EZR_uc011efr.2_5'Flank|EZR_uc011efs.2_Missense_Mutation_p.R261C|EZR_uc003qru.4_Missense_Mutation_p.R293C	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	293	FERM.|Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCCTGCGGCGCATATACAAC	0.572			T	ROS1	NSCLC								A	159192358	G	A	159192358	3	1	192	1	0	0	0	0	1	0	0	0	5335	1087	38	1	907	1	EZR	6	159192358	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	107281428	159192358	11922709	21	13314											
FAM126A	84668	broad.mit.edu	37	7	22985627	22985627	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:22985627G>A	uc003svm.4	-	10	1402	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	FAM126A_uc003svn.4_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	383						cytoplasm|membrane	signal transducer activity	p.R383Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCTCCTGACCGTCTGTGGTTC	0.438													A	22985627	G	A	22985627	3	1	192	1	0	0	0	0	1	0	0	0	5429	1144	40	1	422	1	FAM126A	7	22985627	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		22985627	136153036	22	13315											
AMPH	273	broad.mit.edu	37	7	38516566	38516566	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:38516566G>A	uc003tgu.3	-	5	616	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	AMPH_uc003tgv.3_Missense_Mutation_p.R134C	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	134	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGGCGATGCGATTCTGTCAA	0.522													A	38516566	G	A	38516566	3	1	192	1	0	0	0	0	1	0	0	0	588	1058	37	2	1751	2	AMPH	7	38516566	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	15530939	38516566	120622097	23	13316											
ABCA13	154664	broad.mit.edu	37	7	48287865	48287865	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:48287865G>T	uc003toq.2	+	13	1713	c.1689G>T	c.(1687-1689)tgG>tgT	p.W563C	ABCA13_uc010kyr.2_Missense_Mutation_p.W66C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	563					transport	integral to membrane	ATP binding|ATPase activity			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						TCATTACTTGGCACAAAAATA	0.388													T	48287865	G	T	48287865	3	4	192	1	0	0	0	0	1	0	0	0	31	1212	42	5	1572	5	ABCA13	7	48287865	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	9771299	48287865	110850798	24	13317											
TRPV6	55503	broad.mit.edu	37	7	142572296	142572296	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:142572296T>A	uc003wbx.2	-	10	1629	c.1400A>T	c.(1399-1401)tAc>tTc	p.Y467F	TRPV6_uc003wbw.1_Missense_Mutation_p.Y253F|TRPV6_uc010lou.1_Missense_Mutation_p.Y338F	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	467					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCGGGCGAAGTACATGACGTT	0.582													A	142572296	T	A	142572296	3	1	192	1	0	0	0	0	1	0	0	0	16597	1638	57	5	797	5	TRPV6	7	142572296	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	94284431	142572296	16566367	25	13318											
ARHGEF5	7984	broad.mit.edu	37	7	144062310	144062310	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:144062310G>A	uc003wel.3	+	1	2666	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	ARHGEF5_uc003wek.3_Missense_Mutation_p.E850K|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	850					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCTCCCACCGAACCACCCCC	0.587													A	144062310	G	A	144062310	3	1	192	1	0	0	0	0	1	0	0	0	909	1059	37	2	2550	2	ARHGEF5	7	144062310	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	1490014	144062310	15076353	26	13319											
ZNF786	136051	broad.mit.edu	37	7	148768162	148768162	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:148768162C>T	uc003wfh.2	-	3	1839	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R	ZNF786_uc011kuk.1_Missense_Mutation_p.G531R|ZNF786_uc003wfi.2_Missense_Mutation_p.G482R	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACACTCCCCGCACGAGAAC	0.632													T	148768162	C	T	148768162	3	4	192	1	0	0	0	0	1	0	0	0	18155	652	23	2	650	2	ZNF786	7	148768162	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	4705852	148768162	10370501	27	13320											
HTR5A	3361	broad.mit.edu	37	7	154875908	154875908	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:154875908G>A	uc003wlu.1	+	1	849	c.785G>A	c.(784-786)cGc>cAc	p.R262H		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	262			R -> C (in a colorectal cancer sample; somatic mutation).			integral to plasma membrane	serotonin receptor activity	p.R262C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCACGGTCCGCCACGCCACC	0.607													A	154875908	G	A	154875908	3	1	192	1	0	0	0	0	1	0	0	0	7450	1087	38	1	791	1	HTR5A	7	154875908	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	6107746	154875908	4262755	28	13321											
TEX15	56154	broad.mit.edu	37	8	30701172	30701172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:30701172G>A	uc003xil.3	-	0	5362	c.5362C>T	c.(5362-5364)Cga>Tga	p.R1788*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1788										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)		TTAACCTGTCGTTTGTACTTT	0.343													A	30701172	G	A	30701172	4	1	192	1	0	0	0	0	0	1	0	0	15776	1153	40	1	3023	1	TEX15	8	30701172	Nonsense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		30701172	115662850	29	13322											
TRIM55	84675	broad.mit.edu	37	8	67040581	67040581	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:67040581G>T	uc003xvv.3	+	1	437	c.211G>T	c.(211-213)Gca>Tca	p.A71S	TRIM55_uc003xvu.3_Missense_Mutation_p.A71S|TRIM55_uc003xvw.3_Missense_Mutation_p.A71S|TRIM55_uc003xvx.3_Missense_Mutation_p.A71S	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	71						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)			TACCACCATGGCATCAGGGGG	0.493													T	67040581	G	T	67040581	3	4	192	1	0	0	0	0	1	0	0	0	16526	1203	42	5	217	5	TRIM55	8	67040581	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	36339409	67040581	79323441	30	13323											
ZHX2	22882	broad.mit.edu	37	8	123965254	123965254	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:123965254A>C	uc022bag.1	+	0	1504	c.1504A>C	c.(1504-1506)Acc>Ccc	p.T502P	ZHX2_uc003ypk.1_Missense_Mutation_p.T502P	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	502						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGTCCACATCACCAGCGAATC	0.572													C	123965254	A	C	123965254	3	2	192	1	0	0	0	0	1	0	0	0	17673	159	6	5	1506	5	ZHX2	8	123965254	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08	56924673	123965254	22398768	31	13324											
FER1L6	654463	broad.mit.edu	37	8	125110086	125110086	+	Silent	SNP	C	C	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:125110086C>A	uc003yqw.3	+	36	5051	c.4845C>A	c.(4843-4845)atC>atA	p.I1615I	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1615	C2 6.					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)			ATGAGAATATCTTCACAGGCC	0.408													A	125110086	C	A	125110086	2	1	192	1	0	0	0	0	0	0	0	1	5815	903	32	5		5	FER1L6	8	125110086	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08	1144832	125110086	21253936	32	13325											
RAD23B	5887	broad.mit.edu	37	9	110084381	110084383	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr9:110084381_110084383delACA	uc004bde.3	+	6	1193_1195	c.799_801delACA	c.(799-801)acadel	p.T269del	RAD23B_uc011lwa.2_In_Frame_Del_p.T269del|RAD23B_uc022blj.1_In_Frame_Del_p.T197del|RAD23B_uc011lwb.2_In_Frame_Del_p.T248del	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	269	Poly-Thr.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGCAACAACTACAACAACAAGTT	0.468								Direct reversal of damage;Nucleotide excision repair (NER)					-	110084383	ACA	-	110084381	7	5	192	1	0	1	0	1	0	0	0	0	12983	391	14	0	825	0	RAD23B	9	110084381	In_Frame_Del	DEL	ACA	TCGA-27-2519-01A-01D-1494-08		110084381	31129050	33	13326											
PTPN3	5774	broad.mit.edu	37	9	112153417	112153417	+	Splice_Site	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr9:112153417C>T	uc004bed.2	-	21	2218	c.2106_splice	c.e21+1	p.N702_splice	PTPN3_uc004beb.2_Splice_Site_p.N571_splice|PTPN3_uc004bec.2_Splice_Site_p.N526_splice|PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.N657_splice|PTPN3_uc011lwh.1_Splice_Site_p.N548_splice|PTPN3_uc011lwd.1_Splice_Site_p.N170_splice|PTPN3_uc011lwe.1_Splice_Site_p.N415_splice|PTPN3_uc011lwf.1_Splice_Site_p.N370_splice	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	702	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCTAACTTACGTTCACGTAA	0.458													T	112153417	C	T	112153417	5	4	192	1	0	0	0	0	0	0	1	0	12789	550	19	1	658	1	PTPN3	9	112153417	Splice_Site	SNP	C	TCGA-27-2519-01A-01D-1494-08	2069036	112153417	29060014	34	13327											
C10orf113	387638	broad.mit.edu	37	10	21435284	21435284	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:21435284G>A	uc001iqm.3	-	0	205	c.154C>T	c.(154-156)Cca>Tca	p.P52S	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.P52S	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	52										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTCATGTCTGGAATGTACATT	0.443													A	21435284	G	A	21435284	3	1	192	1	0	0	0	0	1	0	0	0	1584	1174	41	3	356	3	C10orf113	10	21435284	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		21435284	114099463	35	13328											
PTEN	5728	broad.mit.edu	37	10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	rs121913293		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:89711899C>T	uc001kfb.3	+	5	1549	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R173C(69)|p.0?(37)|p.R173H(24)|p.R55fs*1(5)|p.?(4)|p.R173fs*10(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173P(1)|p.R173R(1)|p.R172W(1)|p.R172R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89711899	C	T	89711899	3	4	192	1	0	0	0	0	1	0	0	0	12738	768	27	1	539	1	PTEN	10	89711899	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	68276615	89711899	45822848	36	13329											
DNMBP	23268	broad.mit.edu	37	10	101654794	101654794	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:101654794A>G	uc001kqj.2	-	10	3157	c.3065T>C	c.(3064-3066)gTa>gCa	p.V1022A	DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Missense_Mutation_p.V310A|DNMBP_uc001kqh.2_Missense_Mutation_p.V654A	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1022	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTCTTCAAATACTTCATCTTT	0.353													G	101654794	A	G	101654794	3	3	192	1	0	0	0	0	1	0	0	0	4674	391	14	4	1696	4	DNMBP	10	101654794	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08	11942895	101654794	33879953	37	13330											
SORCS1	114815	broad.mit.edu	37	10	108389034	108389034	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:108389034C>T	uc001kyl.3	-	18	2770	c.2588G>A	c.(2587-2589)gGc>gAc	p.G863D	SORCS1_uc021pxw.1_Missense_Mutation_p.G863D|SORCS1_uc009xxs.3_Missense_Mutation_p.G863D|SORCS1_uc001kym.3_Missense_Mutation_p.G863D|SORCS1_uc001kyn.2_Missense_Mutation_p.G863D|SORCS1_uc001kyo.3_Missense_Mutation_p.G863D	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	863	PKD.					integral to membrane	neuropeptide receptor activity|protein binding	p.G863D(3)		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)		ACGGAAAATGCCCACGTTCTG	0.483													T	108389034	C	T	108389034	3	4	192	1	0	0	0	0	1	0	0	0	14930	739	26	3	1184	3	SORCS1	10	108389034	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	6734240	108389034	27145713	38	13331											
RAB11FIP2	22841	broad.mit.edu	37	10	119798511	119798511	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:119798511T>C	uc001ldj.2	-	2	1677	c.1237A>G	c.(1237-1239)Agg>Ggg	p.R413G	RAB11FIP2_uc009xyz.2_Missense_Mutation_p.R413G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	413					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTTGAAGCCCTGAATTTTGCT	0.343													C	119798511	T	C	119798511	3	2	192	1	0	0	0	0	1	0	0	0	12894	1579	55	4	313	4	RAB11FIP2	10	119798511	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	11409477	119798511	15736236	39	13332											
GRM5	2915	broad.mit.edu	37	11	88780659	88780659	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr11:88780659G>A	uc001pcq.3	-	0	582	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	GRM5_uc009yvm.3_Missense_Mutation_p.R128C|GRM5_uc009yvn.2_Missense_Mutation_p.R128C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	128					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R128H(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCCACACAGCGTACCAAGCCT	0.522													A	88780659	G	A	88780659	3	1	192	1	0	0	0	0	1	0	0	0	6800	1145	40	1	3292	1	GRM5	11	88780659	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		88780659	46225857	40	13333											
ANO4	121601	broad.mit.edu	37	12	101480464	101480464	+	Silent	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr12:101480464C>T	uc010svm.1	+	16	2135	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	ANO4_uc001thw.2_Silent_p.F486F|ANO4_uc001thx.2_Silent_p.F521F|ANO4_uc001thy.2_Silent_p.F41F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	521						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGCCGTGTTCGGGATCGTCA	0.517										HNSCC(74;0.22)			T	101480464	C	T	101480464	2	4	192	1	0	0	0	0	0	0	0	1	699	883	31	2		2	ANO4	12	101480464	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08		101480464	32371431	41	13334											
EML1	2009	broad.mit.edu	37	14	100363508	100363508	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr14:100363508G>A	uc001ygr.3	+	7	830	c.761G>A	c.(760-762)cGt>cAt	p.R254H	EML1_uc010avt.1_Missense_Mutation_p.R222H|EML1_uc010tww.2_Missense_Mutation_p.R223H|EML1_uc001ygq.3_Missense_Mutation_p.R254H|EML1_uc001ygs.3_Missense_Mutation_p.R235H	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	235						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			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)				CGAGACTGCCGTAACAACCTG	0.468													A	100363508	G	A	100363508	3	1	192	1	0	0	0	0	1	0	0	0	5096	1145	40	1	791	1	EML1	14	100363508	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		100363508	6986032	42	13335											
CIB2	10518	broad.mit.edu	37	15	78403609	78403609	+	Silent	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr15:78403609C>T	uc010ums.1	-	2	417	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_uc002bdb.1_Silent_p.S32S|CIB2_uc002bdc.1_5'UTR	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	32							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612													T	78403609	C	T	78403609	2	4	192	1	0	0	0	0	0	0	0	1	3421	755	27	1		1	CIB2	15	78403609	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08		78403609	24127783	43	13336											
ACSM2B	348158	broad.mit.edu	37	16	20570756	20570756	+	Missense_Mutation	SNP	A	A	G	rs74479331		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr16:20570756A>G	uc002dhj.4	-	3	401	c.191T>C	c.(190-192)cTc>cCc	p.L64P	ACSM2B_uc002dhk.4_Missense_Mutation_p.L64P|ACSM2B_uc010bwf.1_Missense_Mutation_p.L64P	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	64					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.L64P(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGGCTTGGGAGTCGCTTGCC	0.512													G	20570756	A	G	20570756	3	3	192	1	0	0	0	0	1	0	0	0	184	304	11	4	1590	4	ACSM2B	16	20570756	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08		20570756	69783997	44	13337											
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Frame_Shift_Del	DEL	G	G	-	rs28934574		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:7577094delG	uc002gim.2	-	7	1038	c.844delC	c.(844-846)cggfs	p.R282fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.R282fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.R150fs|TP53_uc010cnf.1_Frame_Shift_Del_p.R150fs|TP53_uc002gii.1_Frame_Shift_Del_p.R150fs|TP53_uc010cni.1_Frame_Shift_Del_p.R282fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R282fs|TP53_uc002gij.2_Frame_Shift_Del_p.R282fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			-	7577094	G	-	7577094	7	5	192	1	0	1	0	1	0	0	0	0	16378	1115	39	0	442	0	TP53	17	7577094	Frame_Shift_Del	DEL	G	TCGA-27-2519-01A-01D-1494-08		7577094	73618116	45	13338											
SGCA	6442	broad.mit.edu	37	17	48245006	48245006	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:48245006G>A	uc002iqi.3	+	2	257	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.3_Missense_Mutation_p.R74Q|SGCA_uc010wmi.2_Non-coding_Transcript	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	74			R -> W (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.P73P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GACCTGCCCCGGTGGCTCCGC	0.657													A	48245006	G	A	48245006	3	1	192	1	0	0	0	0	1	0	0	0	14199	1116	39	2	231	2	SGCA	17	48245006	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	40667912	48245006	32950204	46	13339											
ARHGAP28	79822	broad.mit.edu	37	18	6859897	6859897	+	Splice_Site	SNP	G	G	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr18:6859897G>T	uc002knc.3	+	5	3781	c.570_splice	c.e5+1	p.V190_splice	ARHGAP28_uc002kne.3_Splice_Site_p.V83_splice|ARHGAP28_uc010wzi.2_Splice_Site_p.V65_splice|ARHGAP28_uc002knf.3_Splice_Site_p.V74_splice	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	65					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGACTCTGTGGTAAGTCATCC	0.428													T	6859897	G	T	6859897	5	4	192	1	0	0	0	0	0	0	1	0	877	1275	44	5	260	5	ARHGAP28	18	6859897	Splice_Site	SNP	G	TCGA-27-2519-01A-01D-1494-08		6859897	71217351	47	13340											
SIGLEC11	114132	broad.mit.edu	37	19	50462137	50462137	+	Missense_Mutation	SNP	C	C	A	rs142292396	byFrequency	TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:50462137C>A	uc010ybh.2	-	6	1217	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	SIGLEC11_uc010ybi.2_Missense_Mutation_p.G376C	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding	p.R376S(1)|p.R376R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGGGATGTGCCGTTCCCGAGG	0.662													A	50462137	C	A	50462137	3	1	192	1	0	0	0	0	1	0	0	0	14307	652	23	5	990	5	SIGLEC11	19	50462137	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08		50462137	8666846	48	13341											
KLK15	55554	broad.mit.edu	37	19	51329907	51329907	+	Silent	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:51329907G>A	uc002ptl.3	-	3	619	c.588C>T	c.(586-588)ggC>ggT	p.G196G	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Intron|KLK15_uc002pto.3_Silent_p.G195G|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Intron|KLK15_uc010eod.3_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	196	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGCCCTCCGCGCCTGCACACA	0.582													A	51329907	G	A	51329907	2	1	192	1	0	0	0	0	0	0	0	1	8403	1074	38	1		1	KLK15	19	51329907	Silent	SNP	G	TCGA-27-2519-01A-01D-1494-08	867770	51329907	7799076	49	13342											
BRSK1	84446	broad.mit.edu	37	19	55814187	55814187	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:55814187G>C	uc002qkf.3	+	11	1155	c.1028G>C	c.(1027-1029)gGc>gCc	p.G343A	BRSK1_uc021vbs.1_Missense_Mutation_p.G327A|BRSK1_uc002qkg.3_Missense_Mutation_p.G327A|BRSK1_uc002qkh.3_Missense_Mutation_p.G22A|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	327	UBA.				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.G327D(1)		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)		GCATCACTGGGCTGCTTCAGG	0.682													C	55814187	G	C	55814187	3	2	192	1	0	0	0	0	1	0	0	0	1523	1203	42	5	1018	5	BRSK1	19	55814187	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	4484280	55814187	3314796	50	13343											
TM9SF4	9777	broad.mit.edu	37	20	30745712	30745712	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr20:30745712G>A	uc002wxj.2	+	13	1680	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	TM9SF4_uc010zts.1_Missense_Mutation_p.R389H|TM9SF4_uc002wxk.2_Missense_Mutation_p.R465H	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	482						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AACCCTGTGCGCACCAACCAG	0.587													A	30745712	G	A	30745712	3	1	192	1	0	0	0	0	1	0	0	0	15977	1087	38	1	1499	1	TM9SF4	20	30745712	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		30745712	32279808	51	13344											
MC3R	4159	broad.mit.edu	37	20	54824428	54824428	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr20:54824428G>A	uc002xxb.2	+	0	641	c.529G>A	c.(529-531)Gtg>Atg	p.V177M		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	214					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			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTCTGTGGCGTGGTGTTCAT	0.562													A	54824428	G	A	54824428	3	1	192	1	0	0	0	0	1	0	0	0	9365	1145	40	1	531	1	MC3R	20	54824428	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	24078716	54824428	8201092	52	13345											
HUNK	30811	broad.mit.edu	37	21	33370854	33370854	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr21:33370854G>A	uc002yph.3	+	10	1862	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	501					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTTGGCTGCCGCAATATTTTC	0.527													A	33370854	G	A	33370854	3	1	192	1	0	0	0	0	1	0	0	0	7458	1087	38	1	1544	1	HUNK	21	33370854	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		33370854	14759041	53	13346											
ARSF	416	broad.mit.edu	37	X	2994636	2994636	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chrX:2994636A>C	uc022brz.1	+	3	345	c.209A>C	c.(208-210)cAg>cCg	p.Q70P	ARSF_uc004cre.2_Missense_Mutation_p.Q70P|ARSF_uc004crf.2_Missense_Mutation_p.Q70P	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	70						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				CGACTGACTCAGCACATCTCT	0.637													C	2994636	A	C	2994636	3	2	192	1	0	0	0	0	1	0	0	0	991	188	7	5	219	5	ARSF	23	2994636	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08		2994636	152275924	54	13347											
PHKA1	5255	broad.mit.edu	37	X	71821869	71821869	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chrX:71821869C>T	uc004eax.4	-	27	3345	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H	PHKA1_uc004eay.4_Intron|PHKA1_uc011mqi.2_Intron	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	1015					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R1015C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGACAGTCTACGAAATTCCAC	0.358													T	71821869	C	T	71821869	3	4	192	1	0	0	0	0	1	0	0	0	11843	536	19	1	647	1	PHKA1	23	71821869	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	68827233	71821869	83448691	55	13348											
NPHP4	261734	broad.mit.edu	37	1	5969267	5969267	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:5969267G>C	uc001alq.2	-	11	1716	c.1448C>G	c.(1447-1449)cCa>cGa	p.P483R	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Intron|NPHP4_uc001alt.2_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	483					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TACTGGCGCTGGCGGGCCTGG	0.642													C	5969267	G	C	5969267	3	2	193	1	0	0	0	0	1	0	0	0	10581	1348	47	5	2908	5	NPHP4	1	5969267	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		5969267	243281354	1	13349											
PRAMEF2	65122	broad.mit.edu	37	1	12918957	12918957	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:12918957G>A	uc001aum.1	+	1	180	c.93G>A	c.(91-93)ctG>ctA	p.L31L		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	31										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGAGCTGCCCAGGGTGC	0.622													A	12918957	G	A	12918957	2	1	193	1	0	0	0	0	0	0	0	1	12435	1306	46	3		3	PRAMEF2	1	12918957	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	6949690	12918957	236331664	2	13350											
MACF1	23499	broad.mit.edu	37	1	39753206	39753206	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:39753206A>T	uc021olt.1	+	13	1824	c.1772A>T	c.(1771-1773)gAa>gTa	p.E591V	MACF1_uc021ols.1_Missense_Mutation_p.E591V|MACF1_uc001cdc.2_Missense_Mutation_p.E591V|MACF1_uc001cda.1_Missense_Mutation_p.E499V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	591					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			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)			TTTGTGTATGAACTACTGTCT	0.463													T	39753206	A	T	39753206	3	4	193	1	0	0	0	0	1	0	0	0	9144	246	9	5	1826	5	MACF1	1	39753206	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	26834249	39753206	209497415	3	13351											
FAAH	2166	broad.mit.edu	37	1	46871972	46871972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:46871972C>T	uc001cpu.2	+	6	965	c.883C>T	c.(883-885)Cga>Tga	p.R295*	FAAH_uc001cpv.2_Intron	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	295					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	ACTGTGCCTGCGAGCCCTGCT	0.642											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46871972	C	T	46871972	4	4	193	1	0	0	0	0	0	1	0	0	5353	760	27	1	909	1	FAAH	1	46871972	Nonsense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	7118766	46871972	202378649	4	13352											
HOOK1	51361	broad.mit.edu	37	1	60312821	60312821	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:60312821A>T	uc009wad.3	+	10	995	c.893A>T	c.(892-894)gAa>gTa	p.E298V	HOOK1_uc001czo.3_Missense_Mutation_p.E298V|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.E256V	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	298	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			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)					CTTGCAGAAGAAACAAGAGCC	0.348													T	60312821	A	T	60312821	3	4	193	1	0	0	0	0	1	0	0	0	7282	246	9	5	931	5	HOOK1	1	60312821	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	13440849	60312821	188937800	5	13353											
PDE4B	5142	broad.mit.edu	37	1	66831413	66831413	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:66831413C>T	uc001dcn.3	+	12	1539	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	PDE4B_uc009war.3_Missense_Mutation_p.H358Y|PDE4B_uc001dco.3_Missense_Mutation_p.H450Y|PDE4B_uc001dcp.3_Missense_Mutation_p.H435Y|PDE4B_uc001dcq.3_Missense_Mutation_p.H278Y|PDE4B_uc009was.3_Missense_Mutation_p.H217Y	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	450					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			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)	TGACGTTGATCATCCTGGAGT	0.418													T	66831413	C	T	66831413	3	4	193	1	0	0	0	0	1	0	0	0	11640	826	29	3	1752	3	PDE4B	1	66831413	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	6518592	66831413	182419208	6	13354											
SLC44A3	126969	broad.mit.edu	37	1	95322914	95322914	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:95322914G>A	uc001dqv.4	+	9	1203	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S	SLC44A3_uc001dqx.4_Missense_Mutation_p.G366S|SLC44A3_uc010otq.2_Missense_Mutation_p.G298S|SLC44A3_uc010otr.2_Missense_Mutation_p.G330S|SLC44A3_uc001dqw.4_Missense_Mutation_p.G318S|SLC44A3_uc010ots.2_Missense_Mutation_p.G286S|SLC44A3_uc009wds.3_Missense_Mutation_p.G269S|SLC44A3_uc010ott.2_Missense_Mutation_p.G286S|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	366						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TATGGAAGGCGGCCAAGTGGA	0.458													A	95322914	G	A	95322914	3	1	193	1	0	0	0	0	1	0	0	0	14637	1116	39	2	1134	2	SLC44A3	1	95322914	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	28491501	95322914	153927707	7	13355											
FLG2	388698	broad.mit.edu	37	1	152327770	152327770	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:152327770G>T	uc001ezw.4	-	2	2565	c.2492C>A	c.(2491-2493)tCt>tAt	p.S831Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	831	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGATTGTCC	0.517													T	152327770	G	T	152327770	3	4	193	1	0	0	0	0	1	0	0	0	5923	942	33	5	4687	5	FLG2	1	152327770	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	57004856	152327770	96922851	8	13356											
GORAB	92344	broad.mit.edu	37	1	170508571	170508571	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:170508571C>T	uc001gha.2	+	1	384	c.357C>T	c.(355-357)ccC>ccT	p.P119P	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.4_Silent_p.P119P|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	119						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCACCTCCCCCGTTGGTGATG	0.468													T	170508571	C	T	170508571	2	4	193	1	0	0	0	0	0	0	0	1	6574	639	23	2		2	GORAB	1	170508571	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	18180801	170508571	78742050	9	13357											
NEK7	140609	broad.mit.edu	37	1	198262082	198262082	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:198262082G>A	uc001gun.4	+	7	924	c.597G>A	c.(595-597)acG>acA	p.T199T	NEK7_uc021pgx.1_Silent_p.T199T	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	199	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CAGTTGGTACGCCTTATTACA	0.323													A	198262082	G	A	198262082	2	1	193	1	0	0	0	0	0	0	0	1	10329	1074	38	1		1	NEK7	1	198262082	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	27753511	198262082	50988539	10	13358											
HNRNPU	3192	broad.mit.edu	37	1	245025769	245025769	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:245025769C>G	uc001iaz.1	-	2	1089	c.871G>C	c.(871-873)Gat>Cat	p.D291H	HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.D272H	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	291	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTACAAGTATCAAGACAAACC	0.378													G	245025769	C	G	245025769	3	3	193	1	0	0	0	0	1	0	0	0	7273	826	29	5	1654	5	HNRNPU	1	245025769	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	46763687	245025769	4224852	11	13359											
ATP6V1C2	245973	broad.mit.edu	37	2	10912727	10912727	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:10912727G>A	uc002ras.3	+	7	738	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	ATP6V1C2_uc002rat.3_Missense_Mutation_p.R210Q	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	210					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.P209P(1)|p.R210R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GTGGTCCCTCGATCAACCAAG	0.507													A	10912727	G	A	10912727	3	1	193	1	0	0	0	0	1	0	0	0	1181	1058	37	2	655	2	ATP6V1C2	2	10912727	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		10912727	232286646	12	13360											
TET3	200424	broad.mit.edu	37	2	74328397	74328397	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:74328397C>T	uc002skb.4	+	8	4077	c.4077C>T	c.(4075-4077)ccC>ccT	p.P1359P		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1359							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P1359P(2)|p.P636P(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTGTTCCCCGGTGAGGGGC	0.657													T	74328397	C	T	74328397	2	4	193	1	0	0	0	0	0	0	0	1	15768	639	23	2		2	TET3	2	74328397	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	63415670	74328397	168870976	13	13361											
RANBP2	5903	broad.mit.edu	37	2	109388156	109388156	+	Splice_Site	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:109388156G>A	uc002tem.4	+	21	7976	c.7850_splice	c.e21-1	p.A2617_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2617					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGTGTTACAGCAAAAGAGAA	0.348													A	109388156	G	A	109388156	5	1	193	1	0	0	0	0	0	0	1	0	13028	985	34	3	7931	3	RANBP2	2	109388156	Splice_Site	SNP	G	TCGA-27-2521-01A-01D-1494-08	35059759	109388156	133811217	14	13362											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	193	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	99724956	209113112	34086261	15	13363											
SCLY	51540	broad.mit.edu	37	2	239002554	239002554	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:239002554A>T	uc010fyv.3	+	8	1105	c.974A>T	c.(973-975)gAc>gTc	p.D325V	SCLY_uc002vxm.4_Missense_Mutation_p.D292V|SCLY_uc010znr.2_Missense_Mutation_p.D231V|SCLY_uc010znq.2_Missense_Mutation_p.D119V	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	325					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CACATGAGGGACGTCCGCGAC	0.622													T	239002554	A	T	239002554	3	4	193	1	0	0	0	0	1	0	0	0	13907	275	10	5	1008	5	SCLY	2	239002554	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	29889442	239002554	4196819	16	13364											
STAB1	23166	broad.mit.edu	37	3	52536060	52536060	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:52536060G>A	uc003dej.3	+	3	444	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	STAB1_uc003dei.1_Missense_Mutation_p.G124R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	124	EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAATGGCCACGGGACCTGCTT	0.637													A	52536060	G	A	52536060	3	1	193	1	0	0	0	0	1	0	0	0	15236	1116	39	2	384	2	STAB1	3	52536060	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		52536060	145486370	17	13365											
MINA	84864	broad.mit.edu	37	3	97664110	97664110	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:97664110T>C	uc003drz.1	-	9	1822	c.1316A>G	c.(1315-1317)aAg>aGg	p.K439R	MINA_uc003dsa.1_Missense_Mutation_p.K438R|MINA_uc003dsb.1_Missense_Mutation_p.K439R|MINA_uc003dsc.1_Missense_Mutation_p.K438R	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	439					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TTTCAGGTCCTTGACAGAAAT	0.383													C	97664110	T	C	97664110	3	2	193	1	0	0	0	0	1	0	0	0	9586	1609	56	4	85	4	MINA	3	97664110	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	45128050	97664110	100358320	18	13366											
EAF2	55840	broad.mit.edu	37	3	121554141	121554141	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:121554141C>A	uc003een.3	+	0	108	c.9C>A	c.(7-9)agC>agA	p.S3R	IQCB1_uc010hrf.1_5'Flank|IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|EAF2_uc003eem.3_Non-coding_Transcript|EAF2_uc003eeo.3_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	3					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTATGAATAGCGCAGCGGGAT	0.572													A	121554141	C	A	121554141	3	1	193	1	0	0	0	0	1	0	0	0	4876	767	27	5	11	5	EAF2	3	121554141	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	23890031	121554141	76468289	19	13367											
CLSTN2	64084	broad.mit.edu	37	3	140281698	140281698	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:140281698G>A	uc003etn.3	+	13	2448	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	753					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATCACATCCGCTACCGCAAC	0.552										HNSCC(16;0.037)			A	140281698	G	A	140281698	3	1	193	1	0	0	0	0	1	0	0	0	3562	1087	38	1	2312	1	CLSTN2	3	140281698	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	18727557	140281698	57740732	20	13368											
LRRIQ4	344657	broad.mit.edu	37	3	169555374	169555374	+	Silent	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:169555374A>G	uc003fgb.3	+	4	1638	c.1638A>G	c.(1636-1638)ggA>ggG	p.G546G		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	546								p.K545K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATAAGAAAGGAAAGAAGGATG	0.363													G	169555374	A	G	169555374	2	3	193	1	0	0	0	0	0	0	0	1	9031	233	9	4		4	LRRIQ4	3	169555374	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08	29273676	169555374	28467056	21	13369											
SLC7A14	57709	broad.mit.edu	37	3	170219101	170219101	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:170219101G>A	uc003fgz.2	-	2	654	c.338C>T	c.(337-339)cCc>cTc	p.P113L	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	113						integral to membrane	amino acid transmembrane transporter activity	p.V112V(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)			TGTGGTCTTGGGGACTCGAAC	0.507													A	170219101	G	A	170219101	3	1	193	1	0	0	0	0	1	0	0	0	14696	1232	43	3	2001	3	SLC7A14	3	170219101	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	663727	170219101	27803329	22	13370											
CSF2	1437	broad.mit.edu	37	5	131409784	131409784	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:131409784T>C	uc003kwf.3	+	1	202	c.170T>C	c.(169-171)gTa>gCa	p.V57A		NM_000758	NP_000749	P04141	CSF2_HUMAN	Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	57					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	AATGAAACAGTAGAAGTCATC	0.517													C	131409784	T	C	131409784	3	2	193	1	0	0	0	0	1	0	0	0	3933	1638	57	4	176	4	CSF2	5	131409784	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08		131409784	49505476	23	13371											
PDE6A	5145	broad.mit.edu	37	5	149323959	149323959	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:149323959C>T	uc003lrg.4	-	0	398	c.278G>A	c.(277-279)cGc>cAc	p.R93H	PDE6A_uc021yfs.1_Missense_Mutation_p.R93H	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	93	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGGCTCATGCGGTCTGCCTG	0.522													T	149323959	C	T	149323959	3	4	193	1	0	0	0	0	1	0	0	0	11645	768	27	1	2392	1	PDE6A	5	149323959	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	17914175	149323959	31591301	24	13372											
SOX30	11063	broad.mit.edu	37	5	157065654	157065654	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:157065654G>A	uc003lxb.1	-	3	1806	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.S183S	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	488					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGGAGACGCTGGGCTGGA	0.532													A	157065654	G	A	157065654	2	1	193	1	0	0	0	0	0	0	0	1	14952	1078	38	1		1	SOX30	5	157065654	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	7741695	157065654	23849606	25	13373											
FARS2	10667	broad.mit.edu	37	6	5613545	5613545	+	Silent	SNP	A	A	T	rs147628137		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:5613545A>T	uc010jnv.1	+	5	1545	c.1209A>T	c.(1207-1209)gtA>gtT	p.V403V	FARS2_uc003mwr.2_Silent_p.V403V	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	403	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ACAAGTTTGTACATCCAAAGT	0.393													T	5613545	A	T	5613545	2	4	193	1	0	0	0	0	0	0	0	1	5678	378	14	5		5	FARS2	6	5613545	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		5613545	165501522	26	13374											
MDC1	9656	broad.mit.edu	37	6	30680501	30680501	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:30680501G>A	uc003nrg.4	-	4	1658	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	MDC1_uc003nrf.4_Silent_p.D60D|MDC1_uc011dmp.1_Silent_p.D278D|MDC1_uc003nrh.1_Silent_p.D278D|MDC1_uc003nri.2_Silent_p.D406D	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	406	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTCTTCCTCGTCATCTGTAT	0.522								Other conserved DNA damage response genes					A	30680501	G	A	30680501	2	1	193	1	0	0	0	0	0	0	0	1	9403	1136	40	1		1	MDC1	6	30680501	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	25066956	30680501	140434566	27	13375											
LTA	4049	broad.mit.edu	37	6	31540609	31540609	+	Silent	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:31540609T>C	uc011dnu.1	+	1	303	c.90T>C	c.(88-90)ccT>ccC	p.P30P	LTA_uc003nue.1_Silent_p.P30P|LTA_uc003nuf.3_5'Flank|LTA_uc003nuh.3_5'Flank|LTA_uc003nug.3_5'Flank|LTA_uc010jsr.3_5'Flank|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	30					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TTCTGCTGCCTGGGGCCCAGG	0.632													C	31540609	T	C	31540609	2	2	193	1	0	0	0	0	0	0	0	1	9068	1567	55	4		4	LTA	6	31540609	Silent	SNP	T	TCGA-27-2521-01A-01D-1494-08	860108	31540609	139574458	28	13376											
GRM4	2914	broad.mit.edu	37	6	34003985	34003985	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:34003985G>A	uc003oir.4	-	7	2265	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	GRM4_uc011dsn.2_Silent_p.F587F|GRM4_uc010jvh.3_Silent_p.F634F|GRM4_uc010jvi.3_Silent_p.F326F|GRM4_uc003oio.3_Silent_p.F326F|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.F494F|GRM4_uc003oiq.3_Silent_p.F501F|GRM4_uc011dsm.2_Silent_p.F465F	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	634					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)	CATAGCACAGGAAGATGCCTG	0.592													A	34003985	G	A	34003985	2	1	193	1	0	0	0	0	0	0	0	1	6799	1165	41	3		3	GRM4	6	34003985	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	2463376	34003985	137111082	29	13377											
LAMA2	3908	broad.mit.edu	37	6	129663557	129663557	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:129663557G>T	uc021zfb.1	+	29	4486	c.4381G>T	c.(4381-4383)Gga>Tga	p.G1461*	LAMA2_uc003qbn.3_Nonsense_Mutation_p.G1461*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.G1461*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1461	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.K1460K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATTGTCAAGGGATTGCCAAA	0.403													T	129663557	G	T	129663557	4	4	193	1	0	0	0	0	0	1	0	0	8606	1233	43	5	4499	5	LAMA2	6	129663557	Nonsense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	95659572	129663557	41451510	30	13378											
HIVEP2	3097	broad.mit.edu	37	6	143093267	143093267	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:143093267T>C	uc003qjd.3	-	4	3352	c.2609A>G	c.(2608-2610)cAg>cGg	p.Q870R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGACTGCTGCTGCACCTGCTG	0.557													C	143093267	T	C	143093267	3	2	193	1	0	0	0	0	1	0	0	0	7187	1580	55	4	4755	4	HIVEP2	6	143093267	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	13429710	143093267	28021800	31	13379											
ARID1B	57492	broad.mit.edu	37	6	157488293	157488293	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:157488293C>T	uc003qqp.3	+	8	2960	c.2960C>T	c.(2959-2961)gCg>gTg	p.A987V	ARID1B_uc003qqo.3_Missense_Mutation_p.A1000V|ARID1B_uc003qqn.3_Missense_Mutation_p.A987V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	987					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACAGCATGGCGCCCGCCATG	0.597													T	157488293	C	T	157488293	3	4	193	1	0	0	0	0	1	0	0	0	914	768	27	1	3037	1	ARID1B	6	157488293	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	14395026	157488293	13626774	32	13380											
ITGB8	3696	broad.mit.edu	37	7	20420296	20420296	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:20420296A>G	uc003suu.3	+	4	1348	c.643A>G	c.(643-645)Aat>Gat	p.N215D	ITGB8_uc011jyh.2_Missense_Mutation_p.N80D|ITGB8_uc003sut.3_Missense_Mutation_p.N215D	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	215	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTGACTACAATTTAGACTG	0.388													G	20420296	A	G	20420296	3	3	193	1	0	0	0	0	1	0	0	0	7901	130	5	4	661	4	ITGB8	7	20420296	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08		20420296	138718367	33	13381											
MTERF	7978	broad.mit.edu	37	7	91503603	91503603	+	Missense_Mutation	SNP	G	G	A	rs148973867		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:91503603G>A	uc003ulc.1	-	2	581	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.R149W|MTERF_uc010leu.1_Missense_Mutation_p.R149W	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	169	Interaction with DNA.				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TTATTGGACCGAAAAAAGGAT	0.398													A	91503603	G	A	91503603	3	1	193	1	0	0	0	0	1	0	0	0	9918	1057	37	2	698	2	MTERF	7	91503603	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	71083307	91503603	67635060	34	13382											
STAR	6770	broad.mit.edu	37	8	38005844	38005844	+	Silent	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr8:38005844A>G	uc003xkv.1	-	3	443	c.179_splice	c.e3-1	p.G60_splice		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	60					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		CTAGCCGAGAACCTGGATACA	0.577													G	38005844	A	G	38005844	2	3	193	1	0	0	0	0	0	0	0	1	15253	57	2	4		4	STAR	8	38005844	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		38005844	108358178	35	13383											
GDF6	392255	broad.mit.edu	37	8	97157751	97157751	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr8:97157751G>C	uc003yhp.3	-	2	507	c.407_splice	c.e2-1	p.D136_splice		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	136					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCGAGAGATCGTCTGCGAGAT	0.557													C	97157751	G	C	97157751	3	2	193	1	0	0	0	0	1	0	0	0	6317	1159	40	5	963	5	GDF6	8	97157751	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	59151907	97157751	49206271	36	13384											
IFNW1	3467	broad.mit.edu	37	9	21141019	21141019	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:21141019C>G	uc003zol.1	-	0	1126	c.551G>C	c.(550-552)aGa>aCa	p.R184T		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	184					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACTTCTCAGTCTTTCTTGCAT	0.383													G	21141019	C	G	21141019	3	3	193	1	0	0	0	0	1	0	0	0	7552	913	32	5	40	5	IFNW1	9	21141019	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		21141019	120072412	37	13385											
IFNW1	3467	broad.mit.edu	37	9	21141108	21141108	+	Silent	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:21141108C>G	uc003zol.1	-	0	1037	c.462G>C	c.(460-462)ctG>ctC	p.L154L		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	154					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCTTTCAGGTAGACAC	0.473													G	21141108	C	G	21141108	2	3	193	1	0	0	0	0	0	0	0	1	7552	813	29	5		5	IFNW1	9	21141108	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	89	21141108	120072323	38	13386											
TMEM2	23670	broad.mit.edu	37	9	74324239	74324239	+	Missense_Mutation	SNP	C	C	T	rs147272925	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:74324239C>T	uc011lsa.1	-	16	3461	c.2921G>A	c.(2920-2922)cGc>cAc	p.R974H	TMEM2_uc010mos.2_Missense_Mutation_p.R911H|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	974						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCTTGGATGGCGGATCAGGTA	0.448													T	74324239	C	T	74324239	3	4	193	1	0	0	0	0	1	0	0	0	16118	768	27	1	1262	1	TMEM2	9	74324239	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	53183131	74324239	66889192	39	13387											
ZNF618	114991	broad.mit.edu	37	9	116811982	116811982	+	Silent	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:116811982G>T	uc004bid.3	+	14	2499	c.2400G>T	c.(2398-2400)ccG>ccT	p.P800P	ZNF618_uc004bic.3_Silent_p.P707P|ZNF618_uc011lxi.2_Silent_p.P767P|ZNF618_uc011lxj.2_Silent_p.P768P|ZNF618_uc010mvb.3_Silent_p.P390P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGTGCACCCGGCCCACAAGG	0.612													T	116811982	G	T	116811982	2	4	193	1	0	0	0	0	0	0	0	1	18039	1103	39	5		5	ZNF618	9	116811982	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	42487743	116811982	24401449	40	13388											
DEC1	50514	broad.mit.edu	37	9	118162691	118162691	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:118162691C>G	uc004bjk.1	+	5	586	c.67C>G	c.(67-69)Ctt>Gtt	p.L23V	DEC1_uc004bjl.1_Intron	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN	Homo sapiens deleted in esophageal cancer 1 (DEC1), mRNA.	23					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						tgagggccttcttgccgtgtt	0.453													G	118162691	C	G	118162691	3	3	193	1	0	0	0	0	1	0	0	0	4381	913	32	5	73	5	DEC1	9	118162691	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	1350709	118162691	23050740	41	13389											
ASTN2	23245	broad.mit.edu	37	9	119204775	119204775	+	Silent	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:119204775G>T	uc004bjt.2	-	19	3503	c.3402C>A	c.(3400-3402)acC>acA	p.T1134T	ASTN2_uc022bml.1_Silent_p.T830T|ASTN2_uc022bmm.1_Silent_p.T834T|ASTN2_uc004bjp.2_Silent_p.T286T|ASTN2_uc011lxr.2_Silent_p.T237T|ASTN2_uc011lxs.2_Silent_p.T237T|ASTN2_uc011lxt.2_Silent_p.T237T|ASTN2_uc004bjq.2_Silent_p.T237T	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1185	Fibronectin type-III.					integral to membrane		p.T1134I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGTCCTCAGGGTCACCGTGC	0.512													T	119204775	G	T	119204775	2	4	193	1	0	0	0	0	0	0	0	1	1065	1219	43	5		5	ASTN2	9	119204775	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	1042084	119204775	22008656	42	13390											
GLT6D1	360203	broad.mit.edu	37	9	138517954	138517954	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:138517954C>T	uc010nbd.1	-	3	472	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	73					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTGATATTCCGCCTTCTGTA	0.498													T	138517954	C	T	138517954	3	4	193	1	0	0	0	0	1	0	0	0	6468	652	23	2	620	2	GLT6D1	9	138517954	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	19313179	138517954	2695477	43	13391											
MYO3A	53904	broad.mit.edu	37	10	26414537	26414537	+	Missense_Mutation	SNP	G	G	T	rs141374777		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:26414537G>T	uc001isn.2	+	19	2474	c.2114_splice	c.e19+1	p.S705_splice	MYO3A_uc009xko.1_Splice_Site_p.S705_splice|MYO3A_uc009xkp.1_Splice_Site|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	705	Myosin head-like.				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			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						TCATCACCAAGGTAAAAATTT	0.338													T	26414537	G	T	26414537	3	4	193	1	0	0	0	0	1	0	0	0	10076	1014	35	5	2180	5	MYO3A	10	26414537	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		26414537	109120210	44	13392											
MPP7	143098	broad.mit.edu	37	10	28378639	28378639	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:28378639G>A	uc001iua.1	-	13	1488	c.1084C>T	c.(1084-1086)Cga>Tga	p.R362*	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Nonsense_Mutation_p.R362*|MPP7_uc009xla.2_Nonsense_Mutation_p.R362*|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	362					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R361Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTAGTTTGTCGCCGATACGGT	0.383													A	28378639	G	A	28378639	4	1	193	1	0	0	0	0	0	1	0	0	9739	1095	38	1	670	1	MPP7	10	28378639	Nonsense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	1964102	28378639	107156108	45	13393											
RUFY2	55680	broad.mit.edu	37	10	70139220	70139220	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:70139220G>T	uc001job.3	-	11	1598	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joa.3_5'Flank|RUFY2_uc001joc.3_Missense_Mutation_p.T355N|RUFY2_uc010qiw.2_Missense_Mutation_p.T331N|RUFY2_uc001jod.1_Missense_Mutation_p.T389N	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	438						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338													T	70139220	G	T	70139220	3	4	193	1	0	0	0	0	1	0	0	0	13739	1261	44	5	795	5	RUFY2	10	70139220	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	41760581	70139220	65395527	46	13394											
ZMIZ1	57178	broad.mit.edu	37	10	81058831	81058831	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:81058831T>G	uc001kaf.2	+	15	2263	c.1691T>G	c.(1690-1692)cTc>cGc	p.L564R	ZMIZ1_uc001kag.2_Missense_Mutation_p.L440R	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	564					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GAGCTGCGGCTCACATTCCCT	0.647													G	81058831	T	G	81058831	3	3	193	1	0	0	0	0	1	0	0	0	17693	1551	54	5	1737	5	ZMIZ1	10	81058831	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	10919611	81058831	54475916	47	13395											
MAPK8IP1	9479	broad.mit.edu	37	11	45923593	45923593	+	Silent	SNP	A	A	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:45923593A>T	uc001nbr.3	+	3	910	c.585A>T	c.(583-585)tcA>tcT	p.S195S		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	195	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	p.R194R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGTCTCGATCATCCTCACCCC	0.527													T	45923593	A	T	45923593	2	4	193	1	0	0	0	0	0	0	0	1	9284	204	8	5		5	MAPK8IP1	11	45923593	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		45923593	89082923	48	13396											
DLAT	1737	broad.mit.edu	37	11	111899615	111899615	+	Silent	SNP	G	G	A	rs148153443		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:111899615G>A	uc001pmo.3	+	3	1265	c.606G>A	c.(604-606)tcG>tcA	p.S202S	DLAT_uc010rwr.2_Intron|DLAT_uc021qqn.1_Silent_p.S146S	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	202					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CCACTGCTTCGCCACCTACAC	0.532													A	111899615	G	A	111899615	2	1	193	1	0	0	0	0	0	0	0	1	4549	1074	38	1		1	DLAT	11	111899615	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	65976022	111899615	23106901	49	13397											
HTR3A	3359	broad.mit.edu	37	11	113857602	113857602	+	Silent	SNP	C	C	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:113857602C>A	uc010rxb.2	+	6	1319	c.1086C>A	c.(1084-1086)atC>atA	p.I362I	HTR3A_uc010rxa.2_Silent_p.I330I|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.I309I	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	324					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCGAGACCATCTTCATTGTGC	0.582													A	113857602	C	A	113857602	2	1	193	1	0	0	0	0	0	0	0	1	7444	903	32	5		5	HTR3A	11	113857602	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	1957987	113857602	21148914	50	13398			1	34		2	2	13	N	G_C	3.217342e-05
HTR3A	3359	broad.mit.edu	37	11	113857614	113857614	+	Silent	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:113857614G>C	uc010rxb.2	+	6	1331	c.1098G>C	c.(1096-1098)cgG>cgC	p.R366R	HTR3A_uc010rxa.2_Silent_p.R334R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R313R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	328					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCATTGTGCGGCTGGTGCACA	0.572													C	113857614	G	C	113857614	2	2	193	1	0	0	0	0	0	0	0	1	7444	1190	42	5		5	HTR3A	11	113857614	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	12	113857614	21148902	51	13399			1	34		2	2	13	N	G_C	3.217342e-05
APOA5	116519	broad.mit.edu	37	11	116661604	116661604	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:116661604G>A	uc009yzg.3	-	1	851	c.419C>T	c.(418-420)gCg>gTg	p.A140V	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.A114V|APOA5_uc009yzf.3_Missense_Mutation_p.A114V			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	114					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGCTCGTGCGCCTCTGCCAT	0.662													A	116661604	G	A	116661604	3	1	193	1	0	0	0	0	1	0	0	0	784	1087	38	1	763	1	APOA5	11	116661604	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	2803990	116661604	18344912	52	13400											
GRIP1	23426	broad.mit.edu	37	12	66786170	66786170	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr12:66786170C>T	uc001stk.3	-	17	2467	c.2226G>A	c.(2224-2226)atG>atA	p.M742I	GRIP1_uc010sta.1_Missense_Mutation_p.M686I|GRIP1_uc001stj.3_Missense_Mutation_p.M524I|GRIP1_uc001stm.3_Missense_Mutation_p.M742I|GRIP1_uc001stl.1_Missense_Mutation_p.M634I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	794	PDZ 6.				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			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)		TGGAGGGGTACATGTCGGAGA	0.537													T	66786170	C	T	66786170	3	4	193	1	0	0	0	0	1	0	0	0	6787	478	17	3	1032	3	GRIP1	12	66786170	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		66786170	67065725	53	13401											
GOLGA3	2802	broad.mit.edu	37	12	133381337	133381337	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr12:133381337T>A	uc001ukz.1	-	6	2121	c.1562A>T	c.(1561-1563)gAc>gTc	p.D521V	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.D521V|GOLGA3_uc001ulb.3_Missense_Mutation_p.D521V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	521					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTCTGCATGTCCTCTACCTT	0.607													A	133381337	T	A	133381337	3	1	193	1	0	0	0	0	1	0	0	0	6554	1667	58	5	3144	5	GOLGA3	12	133381337	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	66595167	133381337	470558	54	13402											
BRCA2	675	broad.mit.edu	37	13	32914389	32914389	+	Missense_Mutation	SNP	A	A	G	rs80358823		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr13:32914389A>G	uc001uub.1	+	10	6124	c.5897A>G	c.(5896-5898)cAt>cGt	p.H1966R		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1966					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGGAAGCTTCATAAGTCAGTC	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G	32914389	A	G	32914389	3	3	193	1	0	0	0	0	1	0	0	0	1499	217	8	4	5935	4	BRCA2	13	32914389	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08		32914389	82255489	55	13403											
SLITRK6	84189	broad.mit.edu	37	13	86370282	86370282	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr13:86370282T>G	uc001vll.1	-	1	821	c.362A>C	c.(361-363)cAc>cCc	p.H121P	SLITRK6_uc021rla.1_Missense_Mutation_p.H121P	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	121						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)		TAAAGAATTGTGATTGATATG	0.353													G	86370282	T	G	86370282	3	3	193	1	0	0	0	0	1	0	0	0	14747	1696	59	5	2167	5	SLITRK6	13	86370282	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	53455893	86370282	28799596	56	13404											
SALL2	6297	broad.mit.edu	37	14	21991030	21991030	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr14:21991030G>T	uc001wbe.3	-	1	3114	c.2832C>A	c.(2830-2832)ttC>ttA	p.F944L	SALL2_uc010tly.2_Missense_Mutation_p.F942L|SALL2_uc010tlz.1_Missense_Mutation_p.F807L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.F809L|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	944							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTGCCTGCAGAAAACACAAG	0.597													T	21991030	G	T	21991030	3	4	193	1	0	0	0	0	1	0	0	0	13811	933	33	5	195	5	SALL2	14	21991030	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		21991030	85358510	57	13405											
ACIN1	22985	broad.mit.edu	37	14	23531439	23531439	+	Missense_Mutation	SNP	C	C	T	rs138390500	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr14:23531439C>T	uc001wit.4	-	15	3539	c.3211G>A	c.(3211-3213)Ggg>Agg	p.G1071R	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.G313R|ACIN1_uc001wiq.4_Missense_Mutation_p.G313R|ACIN1_uc001wir.4_Missense_Mutation_p.G344R|ACIN1_uc001wis.4_Missense_Mutation_p.G752R|ACIN1_uc010akg.3_Missense_Mutation_p.G1058R|ACIN1_uc010tnj.2_Missense_Mutation_p.G1031R	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1071					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.G1071W(2)|p.G344W(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CATTTGACCCCGTGCAGAGCT	0.552													T	23531439	C	T	23531439	3	4	193	1	0	0	0	0	1	0	0	0	142	652	23	2	830	2	ACIN1	14	23531439	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	1540409	23531439	83818101	58	13406											
SECISBP2L	9728	broad.mit.edu	37	15	49325161	49325161	+	Splice_Site	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:49325161C>G	uc001zxe.2	-	4	928	c.664_splice	c.e4+1	p.D222_splice	SECISBP2L_uc001zxd.2_Splice_Site_p.D222_splice|SECISBP2L_uc010bep.2_Splice_Site|SECISBP2L_uc010beq.2_Intron	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	222										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTTGCCTTACCAGTTTGCTG	0.393													G	49325161	C	G	49325161	5	3	193	1	0	0	0	0	0	0	1	0	14007	521	18	5	2561	5	SECISBP2L	15	49325161	Splice_Site	SNP	C	TCGA-27-2521-01A-01D-1494-08		49325161	53206231	59	13407			2	35		2	2	20	C		5.094077e-05
SECISBP2L	9728	broad.mit.edu	37	15	49325180	49325180	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:49325180C>G	uc001zxe.2	-	3	910	c.646G>C	c.(646-648)Gat>Cat	p.D216H	SECISBP2L_uc001zxd.2_Missense_Mutation_p.D216H|SECISBP2L_uc010bep.2_5'UTR|SECISBP2L_uc010beq.2_Intron	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	216										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TGTGAAGCATCTACCAGAAGC	0.398													G	49325180	C	G	49325180	3	3	193	1	0	0	0	0	1	0	0	0	14007	913	32	5	2580	5	SECISBP2L	15	49325180	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	19	49325180	53206212	60	13408			2	35		2	2	20	C		5.094077e-05
FBXO22	26263	broad.mit.edu	37	15	76225151	76225151	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:76225151A>G	uc002bbk.3	+	6	1025	c.920A>G	c.(919-921)cAg>cGg	p.Q307R	FBXO22_uc002bbl.3_Missense_Mutation_p.Q203R|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	307					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCTGCGATGCAGCGCCTCAAA	0.527													G	76225151	A	G	76225151	3	3	193	1	0	0	0	0	1	0	0	0	5734	188	7	4	983	4	FBXO22	15	76225151	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	26899971	76225151	26306241	61	13409											
TSC2	7249	broad.mit.edu	37	16	2138318	2138318	+	Missense_Mutation	SNP	C	C	T	rs137854397		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr16:2138318C>T	uc002con.3	+	40	5357	c.5251C>T	c.(5251-5253)Cgc>Tgc	p.R1751C	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.R1728C|TSC2_uc002coo.3_Missense_Mutation_p.R1684C|TSC2_uc010uvv.2_Missense_Mutation_p.R1648C|TSC2_uc010uvw.2_Missense_Mutation_p.R1636C|TSC2_uc002cop.3_Missense_Mutation_p.R1507C|TSC2_uc002coq.3_Missense_Mutation_p.R526C	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1751	Rap-GAP.		Missing (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAAGCGGCTCCGCCAGCGGGT	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				T	2138318	C	T	2138318	3	4	193	1	0	0	0	0	1	0	0	0	16603	652	23	2	5409	2	TSC2	16	2138318	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		2138318	88216435	62	13410											
RRAD	6236	broad.mit.edu	37	16	66957423	66957424	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr16:66957423_66957424CA>AC	uc002eqn.2	-	3	796_797	c.644_645TG>GT	c.(643-645)gtg>gGT	p.V215G	RRAD_uc002eqo.2_Missense_Mutation_p.V215G	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	215					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ACTCACCATCCACCGAGACCTC	0.634													AC	66957424	CA	AC	66957423	3	1	193	1	0	0	0	0	1	0	0	0	13671	581	21	5	289	5	RRAD	16	66957423	Missense_Mutation	DNP	CA	TCGA-27-2521-01A-01D-1494-08	64819105	66957423	23397330	63	13411											
ACADVL	37	broad.mit.edu	37	17	7125285	7125285	+	Missense_Mutation	SNP	G	G	A	rs140629318		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:7125285G>A	uc002gev.3	+	7	788	c.637G>A	c.(637-639)Gct>Act	p.A213T	DLG4_uc002get.4_5'Flank|DLG4_uc010vto.2_5'Flank|ACADVL_uc010vtp.2_Missense_Mutation_p.A223T|ACADVL_uc010vtq.1_Missense_Mutation_p.A259T|ACADVL_uc002gew.3_Missense_Mutation_p.A191T|ACADVL_uc002gex.3_Missense_Mutation_p.A137T	NM_000018	NP_000009	P49748	ACADV_HUMAN	Homo sapiens acyl-CoA dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213	Catalytic.		A -> P (in ACADVLD).		energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GACTGTGGCCGCTTTCTGTCT	0.572													A	7125285	G	A	7125285	3	1	193	1	0	0	0	0	1	0	0	0	116	1087	38	1	667	1	ACADVL	17	7125285	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		7125285	74069925	64	13412											
TP53	7157	broad.mit.edu	37	17	7577149	7577149	+	Frame_Shift_Del	DEL	A	A	-			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:7577149delA	uc002gim.2	-	7	983	c.789delT	c.(787-789)aatfs	p.N263fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.N263fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.N131fs|TP53_uc010cnf.1_Frame_Shift_Del_p.N131fs|TP53_uc002gii.1_Frame_Shift_Del_p.N131fs|TP53_uc010cni.1_Frame_Shift_Del_p.N263fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N263fs|TP53_uc002gij.2_Frame_Shift_Del_p.N263fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	263	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; 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.G262V(15)|p.0?(8)|p.G262fs*83(5)|p.G262_F270delGNLLGRNSF(4)|p.G262D(4)|p.G262_S269delGNLLGRNS(4)|p.?(3)|p.N263fs*82(3)|p.N263D(2)|p.N263K(2)|p.N263H(2)|p.N263I(2)|p.G262del(2)|p.G262S(2)|p.S261_L264>R(2)|p.N263fs*5(2)|p.G262fs*2(2)|p.G262H(1)|p.G262G(1)|p.E258fs*71(1)|p.S261_G262insX(1)|p.N263fs*84(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)		GTCCCAGTAGATTACCACTAC	0.517		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)			-	7577149	A	-	7577149	7	5	193	1	0	1	0	1	0	0	0	0	16378	330	12	0	497	0	TP53	17	7577149	Frame_Shift_Del	DEL	A	TCGA-27-2521-01A-01D-1494-08	451864	7577149	73618061	65	13413											
SLC13A2	9058	broad.mit.edu	37	17	26823547	26823547	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:26823547T>C	uc010wan.2	+	10	1764	c.1697T>C	c.(1696-1698)gTg>gCg	p.V566A	SLC13A2_uc010wam.2_Missense_Mutation_p.V473A|SLC13A2_uc002hbh.3_Missense_Mutation_p.V517A|SLC13A2_uc010wao.2_Missense_Mutation_p.V474A|SLC13A2_uc002hbi.3_Missense_Mutation_p.V446A	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	517						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ATGTTGCCTGTGGCCACCCCG	0.617													C	26823547	T	C	26823547	3	2	193	1	0	0	0	0	1	0	0	0	14392	1696	59	4	1739	4	SLC13A2	17	26823547	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	19246398	26823547	54371663	66	13414											
MYO18A	399687	broad.mit.edu	37	17	27424842	27424842	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:27424842C>T	uc002hdt.1	-	25	4224	c.4066G>A	c.(4066-4068)Gcg>Acg	p.A1356T	MYO18A_uc010wbc.1_Missense_Mutation_p.A898T|MYO18A_uc002hds.2_Missense_Mutation_p.A898T|MYO18A_uc010csa.1_Missense_Mutation_p.A1356T|MYO18A_uc002hdu.1_Missense_Mutation_p.A1356T|MYO18A_uc010wbd.1_Missense_Mutation_p.A1025T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1356					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTGATCTCCGCTGCCCGGATG	0.602													T	27424842	C	T	27424842	3	4	193	1	0	0	0	0	1	0	0	0	10065	797	28	3	2166	3	MYO18A	17	27424842	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	601295	27424842	53770368	67	13415											
SUZ12	23512	broad.mit.edu	37	17	30320320	30320320	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:30320320G>A	uc002hgs.2	+	10	1483	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	SUZ12_uc002hgt.2_Missense_Mutation_p.E398K	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	421					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TACTCCAAATGAAAACCGACA	0.264			T	JAZF1	endometrial stromal tumours								A	30320320	G	A	30320320	3	1	193	1	0	0	0	0	1	0	0	0	15413	1291	45	3	1303	3	SUZ12	17	30320320	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	2895478	30320320	50874890	68	13416											
GNGT2	2793	broad.mit.edu	37	17	47284162	47284162	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:47284162T>C	uc002ioo.2	-	3	474	c.167A>G	c.(166-168)gAc>gGc	p.D56G	GNGT2_uc021tzo.1_Missense_Mutation_p.D56G|GNGT2_uc021tzp.1_Missense_Mutation_p.D56G|GNGT2_uc021tzq.1_Missense_Mutation_p.D56G	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.	56					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGGATTCTTGTCCTCAGGGAT	0.507													C	47284162	T	C	47284162	3	2	193	1	0	0	0	0	1	0	0	0	6534	1667	58	4	46	4	GNGT2	17	47284162	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	16963842	47284162	33911048	69	13417											
WIPI1	55062	broad.mit.edu	37	17	66417949	66417949	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:66417949G>A	uc010dey.3	-	12	1397	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	WIPI1_uc010wqo.2_Missense_Mutation_p.R354C	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	436					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGATTTCCACGGCACAAGATT	0.468													A	66417949	G	A	66417949	3	1	193	1	0	0	0	0	1	0	0	0	17367	1116	39	2	38	2	WIPI1	17	66417949	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	19133787	66417949	14777261	70	13418											
CLUL1	27098	broad.mit.edu	37	18	633305	633305	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr18:633305C>A	uc010wys.2	+	7	1254	c.1020C>A	c.(1018-1020)gaC>gaA	p.D340E	CLUL1_uc002kkp.3_Missense_Mutation_p.D288E|CLUL1_uc002kkq.3_Missense_Mutation_p.D288E	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	288					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TAGCTCCTGACCACGGAGGCC	0.428													A	633305	C	A	633305	3	1	193	1	0	0	0	0	1	0	0	0	3570	506	18	5	882	5	CLUL1	18	633305	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		633305	77443943	71	13419											
TCEB3C	162699	broad.mit.edu	37	18	44554624	44554624	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr18:44554624C>T	uc010xdb.2	-	0	1826	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TGGCCATCAGCGGGGCCACTT	0.632													T	44554624	C	T	44554624	2	4	193	1	0	0	0	0	0	0	0	1	15680	755	27	1		1	TCEB3C	18	44554624	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	43921319	44554624	33522624	72	13420											
SLC39A3	29985	broad.mit.edu	37	19	2733097	2733097	+	Silent	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:2733097G>A	uc010xgy.1	-	2	851	c.597C>T	c.(595-597)agC>agT	p.S199S	SLC39A3_uc002lwg.3_Silent_p.S199S	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	199						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		CCACGAACAGGCTCACCACTT	0.716													A	2733097	G	A	2733097	2	1	193	1	0	0	0	0	0	0	0	1	14619	1194	42	3		3	SLC39A3	19	2733097	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08		2733097	56395886	73	13421											
OR2Z1	284383	broad.mit.edu	37	19	8841547	8841547	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:8841547T>C	uc010xkg.2	+	0	157	c.157T>C	c.(157-159)Tcc>Ccc	p.S53P		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCGTGTGGACTCCCGGCTCCA	0.542													C	8841547	T	C	8841547	3	2	193	1	0	0	0	0	1	0	0	0	11036	1551	54	4	159	4	OR2Z1	19	8841547	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	6108450	8841547	50287436	74	13422											
CIC	23152	broad.mit.edu	37	19	42795881	42795881	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:42795881delC	uc002otf.1	+	10	2910	c.2870delC	c.(2869-2871)gccfs	p.A957fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	957	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGAATGGTGCCCAGCCCCCC	0.602			"Mis, F, S"		oligodendroglioma								-	42795881	C	-	42795881	7	5	193	1	0	1	0	1	0	0	0	0	3424	739	26	0	2912	0	CIC	19	42795881	Frame_Shift_Del	DEL	C	TCGA-27-2521-01A-01D-1494-08	33954334	42795881	16333102	75	13423											
GPR4	2828	broad.mit.edu	37	19	46094298	46094298	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:46094298C>T	uc002pcm.3	-	1	1772	c.827G>A	c.(826-828)aGc>aAc	p.S276N	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.S276N	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	276						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACAGTTGAGGCTGGTGAAAGC	0.647													T	46094298	C	T	46094298	3	4	193	1	0	0	0	0	1	0	0	0	6694	797	28	3	265	3	GPR4	19	46094298	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	3298417	46094298	13034685	76	13424											
ARHGAP35	2909	broad.mit.edu	37	19	47503900	47503901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:47503900_47503901insC	uc010ekv.3	+	5	4455_4456	c.4455_4456insC	c.(4453-4458)atgcagfs	p.M1485fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	1485	Pro-rich.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGTCCCCAATGCAGCCACTGCT	0.649													C	47503901	-	C	47503900	7	5	193	1	0	1	1	0	0	0	0	0	6795	1319	46	0	4477	0	ARHGAP35	19	47503900	Frame_Shift_Ins	INS	-	TCGA-27-2521-01A-01D-1494-08	1409602	47503900	11625083	77	13425											
ZNF71	58491	broad.mit.edu	37	19	57132720	57132721	+	Frame_Shift_Ins	INS	-	-	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:57132720_57132721insG	uc002qnm.4	+	2	303_304	c.65_66insG	c.(64-66)acgfs	p.T22fs	ZNF71_uc021vcg.1_Frame_Shift_Ins_p.T22fs	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	22						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGGAGGCCACGGGGGGACCCA	0.554													G	57132721	-	G	57132720	7	5	193	1	0	1	1	0	0	0	0	0	18111	536	19	0	67	0	ZNF71	19	57132720	Frame_Shift_Ins	INS	-	TCGA-27-2521-01A-01D-1494-08	9628820	57132720	1996263	78	13426											
SPTLC3	55304	broad.mit.edu	37	20	13052999	13052999	+	Silent	SNP	C	C	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr20:13052999C>G	uc002wod.1	+	2	688	c.399C>G	c.(397-399)gcC>gcG	p.A133A		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	133					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCTGCAGTGCCCCAGGGCCTC	0.438													G	13052999	C	G	13052999	2	3	193	1	0	0	0	0	0	0	0	1	15124	610	22	5		5	SPTLC3	20	13052999	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08		13052999	49972521	79	13427											
ZNF831	128611	broad.mit.edu	37	20	57829379	57829379	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr20:57829379G>A	uc002yan.3	+	4	4615	c.4615G>A	c.(4615-4617)Gca>Aca	p.A1539T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1539						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)					AGAGGGCAGAGCACAGACCCT	0.498													A	57829379	G	A	57829379	3	1	193	1	0	0	0	0	1	0	0	0	18182	971	34	3	4633	3	ZNF831	20	57829379	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	44776380	57829379	5196141	80	13428											
MAGEB16	139604	broad.mit.edu	37	X	35820799	35820799	+	Silent	SNP	A	A	G			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:35820799A>G	uc010ngt.1	+	1	765	c.486A>G	c.(484-486)ctA>ctG	p.L162L	MAGEB16_uc022bus.1_Silent_p.L162L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	162	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGAGCACCTAGAGATGATAT	0.468													G	35820799	A	G	35820799	2	3	193	1	0	0	0	0	0	0	0	1	9174	407	15	4		4	MAGEB16	23	35820799	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		35820799	119449761	81	13429											
WDR13	64743	broad.mit.edu	37	X	48458765	48458765	+	Silent	SNP	C	C	T			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:48458765C>T	uc004dkj.2	+	4	1087	c.582C>T	c.(580-582)gaC>gaT	p.D194D	WDR13_uc004dkk.2_Silent_p.D102D|WDR13_uc004dkl.4_Silent_p.D102D|WDR13_uc011mme.2_Silent_p.D72D	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	194						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCTCACTCGACGGCAGCATCT	0.632													T	48458765	C	T	48458765	2	4	193	1	0	0	0	0	0	0	0	1	17272	535	19	1		1	WDR13	23	48458765	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	12637966	48458765	106811795	82	13430											
ATRX	546	broad.mit.edu	37	X	76875916	76875916	+	Nonsense_Mutation	SNP	G	G	C			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:76875916G>C	uc004ecp.4	-	19	5451	c.5219C>G	c.(5218-5220)tCa>tGa	p.S1740*	ATRX_uc004ecq.4_Nonsense_Mutation_p.S1702*|ATRX_uc004eco.4_Nonsense_Mutation_p.S1525*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1740	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.S1740*(3)|p.R1739*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTCCTCCTTGATCGTATAGA	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76875916	G	C	76875916	4	2	193	1	0	0	0	0	0	1	0	0	1208	1294	45	5	2323	5	ATRX	23	76875916	Nonsense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	28417151	76875916	78394644	83	13431											
HRNR	388697	broad.mit.edu	37	1	152187663	152187663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:152187663G>A	uc001ezt.1	-	2	6518	c.6442C>T	c.(6442-6444)Cga>Tga	p.R2148*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2148					keratinization		calcium ion binding|protein binding	p.R2148*(2)|p.R2148L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTCGTTCACCCCTA	0.587													A	152187663	G	A	152187663	4	1	194	1	0	0	0	0	0	1	0	0	7359	1153	40	1	2114	1	HRNR	1	152187663	Nonsense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		152187663	97062958	1	13432											
MEF2D	4209	broad.mit.edu	37	1	156446904	156446904	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:156446904G>A	uc001fpc.3	-	6	1145	c.755C>T	c.(754-756)cCa>cTa	p.P252L	MEF2D_uc001fpb.3_Missense_Mutation_p.P252L|MEF2D_uc001fpd.3_Missense_Mutation_p.P252L|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.P252L	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	252	Poly-Pro.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGTGGGGGTGGAGACTTGGC	0.607													A	156446904	G	A	156446904	3	1	194	1	0	0	0	0	1	0	0	0	9458	1348	47	3	834	3	MEF2D	1	156446904	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	4259241	156446904	92803717	2	13433											
FCER1A	2205	broad.mit.edu	37	1	159275846	159275846	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:159275846G>A	uc001ftq.3	+	4	497	c.400G>A	c.(400-402)Ggt>Agt	p.G134S		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	134	Ig-like 2.					integral to plasma membrane				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)	CAGGTGCCATGGTTGGAGGAA	0.468													A	159275846	G	A	159275846	3	1	194	1	0	0	0	0	1	0	0	0	5774	1348	47	3	414	3	FCER1A	1	159275846	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	2828942	159275846	89974775	3	13434											
DUSP27	92235	broad.mit.edu	37	1	167097485	167097485	+	Silent	SNP	C	C	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:167097485C>A	uc001geb.1	+	4	3133	c.3117C>A	c.(3115-3117)ccC>ccA	p.P1039P		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1039					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCCAGAGCCCTACTTCTTCC	0.587													A	167097485	C	A	167097485	2	1	194	1	0	0	0	0	0	0	0	1	4824	668	24	5		5	DUSP27	1	167097485	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08	7821639	167097485	82153136	4	13435											
HMCN1	83872	broad.mit.edu	37	1	185878633	185878633	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:185878633T>A	uc001grq.1	+	4	1015	c.786T>A	c.(784-786)aaT>aaA	p.N262K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	262					response to stimulus|visual perception	basement membrane	calcium ion binding	p.R261H(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						AAATTCGCAATCCTTTAGGTG	0.363													A	185878633	T	A	185878633	3	1	194	1	0	0	0	0	1	0	0	0	7220	1432	50	5	804	5	HMCN1	1	185878633	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08	18781148	185878633	63371988	5	13436											
LAMB3	3914	broad.mit.edu	37	1	209790792	209790792	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:209790792G>A	uc001hhg.3	-	19	3581	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	LAMB3_uc009xco.3_Missense_Mutation_p.A1064V|LAMB3_uc001hhh.3_Missense_Mutation_p.A1064V	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1064	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCACCTTCCGCAAGCTGCTG	0.627													A	209790792	G	A	209790792	3	1	194	1	0	0	0	0	1	0	0	0	8612	1087	38	1	339	1	LAMB3	1	209790792	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	23912159	209790792	39459829	6	13437											
LAMB3	3914	broad.mit.edu	37	1	209801465	209801465	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:209801465G>C	uc001hhg.3	-	9	1593	c.1203C>G	c.(1201-1203)tgC>tgG	p.C401W	LAMB3_uc009xco.3_Missense_Mutation_p.C401W|LAMB3_uc001hhh.3_Missense_Mutation_p.C401W|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	401	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CATGCTCCTTGCACACACACT	0.642											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	209801465	G	C	209801465	3	2	194	1	0	0	0	0	1	0	0	0	8612	1311	46	5	2367	5	LAMB3	1	209801465	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	10673	209801465	39449156	7	13438											
PGBD2	267002	broad.mit.edu	37	1	249212387	249212387	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:249212387G>A	uc001ifh.3	+	2	1751	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	PGBD2_uc001ifg.3_Missense_Mutation_p.G284E|PGBD2_uc009xhd.3_Missense_Mutation_p.G532E|PGBD2_uc021pmh.1_Missense_Mutation_p.G284E	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	535										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACATCTCAAGGGAGGCGAAGC	0.547													A	249212387	G	A	249212387	3	1	194	1	0	0	0	0	1	0	0	0	11781	1232	43	3	1610	3	PGBD2	1	249212387	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	39410922	249212387	38234	8	13439											
PGBD2	267002	broad.mit.edu	37	1	249212544	249212544	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:249212544G>T	uc001ifh.3	+	2	1908	c.1761G>T	c.(1759-1761)agG>agT	p.R587S	PGBD2_uc001ifg.3_Missense_Mutation_p.R336S|PGBD2_uc009xhd.3_Missense_Mutation_p.R584S|PGBD2_uc021pmh.1_Missense_Mutation_p.R336S	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	587										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AATGCTTCAGGGAGTACCACA	0.478													T	249212544	G	T	249212544	3	4	194	1	0	0	0	0	1	0	0	0	11781	1223	43	5	1767	5	PGBD2	1	249212544	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	157	249212544	38077	9	13440											
HK2	3099	broad.mit.edu	37	2	75081480	75081480	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:75081480C>T	uc002snd.3	+	1	2050	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	42	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R42Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GATCTCTAAGCGGTTCCGCAA	0.527													T	75081480	C	T	75081480	3	4	194	1	0	0	0	0	1	0	0	0	7191	759	27	1	130	1	HK2	2	75081480	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		75081480	168117893	10	13441											
UGGT1	56886	broad.mit.edu	37	2	128944331	128944331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:128944331G>A	uc002tps.3	+	38	4612	c.4434G>A	c.(4432-4434)tgG>tgA	p.W1478*	UGGT1_uc002tpr.3_Nonsense_Mutation_p.W1454*	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1478	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTGAAACGTGGTGTGATGACG	0.413													A	128944331	G	A	128944331	4	1	194	1	0	0	0	0	0	1	0	0	16938	1270	44	3	4588	3	UGGT1	2	128944331	Nonsense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	53862851	128944331	114255042	11	13442											
TTN	7273	broad.mit.edu	37	2	179571370	179571370	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:179571370C>T	uc021vsy.1	-	98	25724	c.25499G>A	c.(25498-25500)cGt>cAt	p.R8500H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5161H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9427	Ig-like 67.						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)			GATGAAAACACGACCTCCTTG	0.443													T	179571370	C	T	179571370	3	4	194	1	0	0	0	0	1	0	0	0	16732	536	19	1	75342	1	TTN	2	179571370	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	50627039	179571370	63628003	12	13443											
AQP12B	653437	broad.mit.edu	37	2	241621969	241621969	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:241621969C>T	uc010fzj.3	-	0	349	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	AQP12B_uc002vzt.3_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.	84						integral to membrane	transporter activity	p.V96V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGCAGGGACACGGTGGGGTTG	0.687													T	241621969	C	T	241621969	3	4	194	1	0	0	0	0	1	0	0	0	825	536	19	1	649	1	AQP12B	2	241621969	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	62050599	241621969	1577404	13	13444											
DCLK3	85443	broad.mit.edu	37	3	36779774	36779774	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:36779774C>T	uc003cgi.2	-	1	868	c.377G>A	c.(376-378)gGg>gAg	p.G126E		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	126						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.G126E(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AATCTCCACCCCAAGATGCTT	0.567													T	36779774	C	T	36779774	3	4	194	1	0	0	0	0	1	0	0	0	4293	623	22	3	1585	3	DCLK3	3	36779774	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		36779774	161242656	14	13445											
SLC6A20	54716	broad.mit.edu	37	3	45801400	45801400	+	Silent	SNP	G	G	A	rs143985135		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:45801400G>A	uc011bai.2	-	9	1702	c.1578C>T	c.(1576-1578)agC>agT	p.S526S	SLC6A20_uc003cow.3_Silent_p.S176S|SLC6A20_uc011baj.2_Silent_p.S489S	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	526					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.S526S(1)|p.S489S(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGATGTAGTCGCTCAGGTAGA	0.592													A	45801400	G	A	45801400	2	1	194	1	0	0	0	0	0	0	0	1	14684	1078	38	1		1	SLC6A20	3	45801400	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08	9021626	45801400	152221030	15	13446											
NIT2	56954	broad.mit.edu	37	3	100057936	100057936	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:100057936C>T	uc003dtv.3	+	1	87	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	NIT2_uc011bha.1_Missense_Mutation_p.R5C	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	5	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTCAGCTTTCCGCTTGGCCCT	0.473													T	100057936	C	T	100057936	3	4	194	1	0	0	0	0	1	0	0	0	10434	652	23	2	19	2	NIT2	3	100057936	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	54256536	100057936	97964494	16	13447											
DLG1	1739	broad.mit.edu	37	3	196921382	196921382	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:196921382C>G	uc010ial.3	-	4	656	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Missense_Mutation_p.E133Q|DLG1_uc003fxn.4_Missense_Mutation_p.E133Q|DLG1_uc011bue.2_Missense_Mutation_p.E133Q|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.E133Q	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	133					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGAACCAATTCTGGACCTATC	0.353													G	196921382	C	G	196921382	3	3	194	1	0	0	0	0	1	0	0	0	4554	922	32	5	2509	5	DLG1	3	196921382	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	96863446	196921382	1101048	17	13448											
SLIT2	9353	broad.mit.edu	37	4	20543202	20543202	+	Silent	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:20543202C>T	uc003gpr.1	+	19	2307	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	SLIT2_uc003gps.1_Silent_p.P693P	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	701	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATACCCATCCAGGATG	0.443													T	20543202	C	T	20543202	2	4	194	1	0	0	0	0	0	0	0	1	14740	581	21	3		3	SLIT2	4	20543202	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		20543202	170611074	18	13449											
N4BP2	55728	broad.mit.edu	37	4	40119548	40119548	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:40119548G>A	uc003guy.4	+	7	2062	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	N4BP2_uc010ifq.3_Missense_Mutation_p.R495H|N4BP2_uc010ifr.3_Missense_Mutation_p.R495H	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	575						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CATTATCAACGTTTTGTTTCA	0.363													A	40119548	G	A	40119548	3	1	194	1	0	0	0	0	1	0	0	0	10110	1145	40	1	1746	1	N4BP2	4	40119548	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	19576346	40119548	151034728	19	13450											
PCDH10	57575	broad.mit.edu	37	4	134084209	134084209	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:134084209G>T	uc003iha.3	+	3	3701	c.2875G>T	c.(2875-2877)Gtc>Ttc	p.V959F		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	959					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		GCCTTCTTTTGTCCCTTCTGA	0.488													T	134084209	G	T	134084209	3	4	194	1	0	0	0	0	1	0	0	0	11507	1377	48	5	2949	5	PCDH10	4	134084209	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	93964661	134084209	57070067	20	13451											
DCLK2	166614	broad.mit.edu	37	4	151170830	151170830	+	Silent	SNP	C	C	G			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:151170830C>G	uc003ilo.4	+	15	2872	c.2118C>G	c.(2116-2118)gtC>gtG	p.V706V	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.V689V|DCLK2_uc003iln.4_Silent_p.V688V	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	689					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGGTCTCCGTCATCATGGTGA	0.532													G	151170830	C	G	151170830	2	3	194	1	0	0	0	0	0	0	0	1	4292	813	29	5		5	DCLK2	4	151170830	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08	17086621	151170830	39983446	21	13452											
AP3S1	1176	broad.mit.edu	37	5	115177778	115177778	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr5:115177778G>A	uc003krl.3	+	0	160	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	AP3S1_uc003krk.3_5'UTR|ATG12_uc021ycr.1_5'Flank|ATG12_uc021ycs.1_5'Flank|ATG12_uc003krh.3_5'Flank|ATG12_uc003kri.3_5'Flank	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	15					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		GGGAAGCCGCGGCTCTCCAAG	0.692													A	115177778	G	A	115177778	3	1	194	1	0	0	0	0	1	0	0	0	749	1116	39	2	46	2	AP3S1	5	115177778	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		115177778	65737482	22	13453											
DOCK2	1794	broad.mit.edu	37	5	169506008	169506008	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr5:169506008C>T	uc003maf.3	+	48	5104	c.5024C>T	c.(5023-5025)aCg>aTg	p.T1675M	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.T1167M|DOCK2_uc003mah.3_Missense_Mutation_p.T231M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1675					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			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)			TCACCCAAGACGCCGAGAGTG	0.557													T	169506008	C	T	169506008	3	4	194	1	0	0	0	0	1	0	0	0	4687	536	19	1	5218	1	DOCK2	5	169506008	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	54328230	169506008	11409252	23	13454											
WDR27	253769	broad.mit.edu	37	6	170036474	170036474	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr6:170036474T>C	uc003qwx.3	-	18	2516	c.1996A>G	c.(1996-1998)Att>Gtt	p.I666V	WDR27_uc003qwv.2_Intron|WDR27_uc021zio.1_Missense_Mutation_p.I666V|WDR27_uc003qwy.3_Missense_Mutation_p.I539V	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	636										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TACCTCTTAATCTCATCTTTG	0.378													C	170036474	T	C	170036474	3	2	194	1	0	0	0	0	1	0	0	0	17281	1435	50	4	605	4	WDR27	6	170036474	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08		170036474	1078593	24	13455											
FAM126A	84668	broad.mit.edu	37	7	23023600	23023600	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr7:23023600G>T	uc003svm.4	-	2	371	c.116C>A	c.(115-117)tCa>tAa	p.S39*	FAM126A_uc003svn.4_5'UTR|FAM126A_uc011jyr.1_Intron	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	39						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ATAGAGAGATGAAACTAAAGA	0.269													T	23023600	G	T	23023600	4	4	194	1	0	0	0	0	0	1	0	0	5429	1294	45	5	1485	5	FAM126A	7	23023600	Nonsense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		23023600	136115063	25	13456											
MUC17	140453	broad.mit.edu	37	7	100683180	100683180	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr7:100683180G>A	uc003uxp.1	+	2	8536	c.8483G>A	c.(8482-8484)gGc>gAc	p.G2828D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2828	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					TCTGAGGCTGGCACCCTTTCA	0.498													A	100683180	G	A	100683180	3	1	194	1	0	0	0	0	1	0	0	0	9974	1203	42	3	8493	3	MUC17	7	100683180	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	77659580	100683180	58455483	26	13457											
ARFGEF1	10565	broad.mit.edu	37	8	68140317	68140317	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr8:68140317T>C	uc003xxo.2	-	24	3862	c.3472A>G	c.(3472-3474)Acg>Gcg	p.T1158A	ARFGEF1_uc003xxl.1_Missense_Mutation_p.T612A|ARFGEF1_uc003xxn.2_Missense_Mutation_p.T141A	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1158					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGGTGTGTCGTGGAAAGTAAT	0.318													C	68140317	T	C	68140317	3	2	194	1	0	0	0	0	1	0	0	0	852	1696	59	4	2137	4	ARFGEF1	8	68140317	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08		68140317	78223705	27	13458											
SLC39A4	55630	broad.mit.edu	37	8	145642115	145642115	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr8:145642115G>A	uc003zcq.3	-	0	159	c.59C>T	c.(58-60)gCg>gTg	p.A20V	SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_5'Flank	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	20						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGACGCCGTCGCCGTCACCAC	0.662													A	145642115	G	A	145642115	3	1	194	1	0	0	0	0	1	0	0	0	14620	1087	38	1	2049	1	SLC39A4	8	145642115	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	77501798	145642115	721907	28	13459											
WASH1	375690	broad.mit.edu	37	9	17147	17147	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:17147T>C	uc010mgm.1	-	6	844	c.701A>G	c.(700-702)tAt>tGt	p.Y234C	WASH1_uc022bcs.1_Non-coding_Transcript|WASH1_uc011llq.1_Non-coding_Transcript|WASH1_uc003zfu.1_Missense_Mutation_p.Y247C	NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	234					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	early endosome membrane|recycling endosome membrane|WASH complex	actin binding|alpha-tubulin binding					all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTCTGGCACATAGAAGTAGTT	0.587													C	17147	T	C	17147	3	2	194	1	0	0	0	0	1	0	0	0	17252	1406	49	4	716	4	WASH1	9	17147	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08		17147	141196284	29	13460											
PAPPA	5069	broad.mit.edu	37	9	118997909	118997909	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:118997909G>A	uc004bjn.3	+	6	3106	c.2725G>A	c.(2725-2727)Gta>Ata	p.V909I	PAPPA_uc011lxp.1_Missense_Mutation_p.V604I|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	909					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TAGGAAATTCGTAGACATGTA	0.517													A	118997909	G	A	118997909	3	1	194	1	0	0	0	0	1	0	0	0	11432	1145	40	1	2751	1	PAPPA	9	118997909	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	118980762	118997909	22215522	30	13461											
LAMC3	10319	broad.mit.edu	37	9	133907535	133907535	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:133907535C>T	uc004caa.1	+	2	880	c.782C>T	c.(781-783)gCc>gTc	p.A261V		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	261	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TACTATTATGCCGTGTCCGAC	0.612													T	133907535	C	T	133907535	3	4	194	1	0	0	0	0	1	0	0	0	8616	739	26	3	792	3	LAMC3	9	133907535	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	14909626	133907535	7305896	31	13462											
LBX1	10660	broad.mit.edu	37	10	102987489	102987489	+	Silent	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr10:102987489C>T	uc001ksx.3	-	1	529	c.384G>A	c.(382-384)tcG>tcA	p.S128S	FLJ41350_uc010qpy.2_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	Homo sapiens ladybird homeobox 1 (LBX1), mRNA.	128					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		AGGCCGTGCGCGACTTTCGCC	0.587													T	102987489	C	T	102987489	2	4	194	1	0	0	0	0	0	0	0	1	8653	755	27	1		1	LBX1	10	102987489	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		102987489	32547258	32	13463											
OR52B2	255725	broad.mit.edu	37	11	6190634	6190634	+	Missense_Mutation	SNP	C	C	T	rs147668114	by1000genomes	TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:6190634C>T	uc010qzy.2	-	0	923	c.923G>A	c.(922-924)cGg>cAg	p.R308Q		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R308Q(3)|p.R308R(1)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCAAAGAACCGGTGGGCTAC	0.478													T	6190634	C	T	6190634	3	4	194	1	0	0	0	0	1	0	0	0	11111	652	23	2	51	2	OR52B2	11	6190634	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		6190634	128815882	33	13464											
INSC	387755	broad.mit.edu	37	11	15260573	15260573	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:15260573G>C	uc001mlz.3	+	10	1457	c.1346G>C	c.(1345-1347)cGt>cCt	p.R449P	INSC_uc001mly.3_Missense_Mutation_p.R496P|INSC_uc001mma.3_Missense_Mutation_p.R449P|INSC_uc010rcs.2_Missense_Mutation_p.R484P|INSC_uc001mmb.3_Missense_Mutation_p.R449P|INSC_uc001mmc.3_Missense_Mutation_p.R407P	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	496					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGGCTCGTCTCAGCCGA	0.607													C	15260573	G	C	15260573	3	2	194	1	0	0	0	0	1	0	0	0	7764	1145	40	5	1529	5	INSC	11	15260573	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	9069939	15260573	119745943	34	13465											
HIPK3	10114	broad.mit.edu	37	11	33362619	33362619	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:33362619C>A	uc001mul.1	+	6	1989	c.1719C>A	c.(1717-1719)agC>agA	p.S573R	HIPK3_uc001mum.1_Missense_Mutation_p.S573R|HIPK3_uc009yjv.1_Missense_Mutation_p.S573R	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	573					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTGCTTCAAGCAGTACTGCTA	0.318													A	33362619	C	A	33362619	3	1	194	1	0	0	0	0	1	0	0	0	7118	709	25	5	1741	5	HIPK3	11	33362619	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	18102046	33362619	101643897	35	13466											
DGKZ	8525	broad.mit.edu	37	11	46393049	46393049	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:46393049G>A	uc001ncn.1	+	8	1344	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	DGKZ_uc001nch.2_Missense_Mutation_p.V235M|DGKZ_uc010rgq.2_Missense_Mutation_p.V201M|DGKZ_uc010rgr.2_Missense_Mutation_p.V223M|DGKZ_uc001ncj.2_Missense_Mutation_p.V185M|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Missense_Mutation_p.V218M|DGKZ_uc001ncl.2_Missense_Mutation_p.V219M|DGKZ_uc009yky.1_Missense_Mutation_p.V219M|DGKZ_uc010rgs.1_Missense_Mutation_p.V196M	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	407					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCACAGCAAGGTGTCCTGCTT	0.701													A	46393049	G	A	46393049	3	1	194	1	0	0	0	0	1	0	0	0	4474	1261	44	3	1696	3	DGKZ	11	46393049	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	13030430	46393049	88613467	36	13467											
PEX5	5830	broad.mit.edu	37	12	7343512	7343512	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:7343512A>G	uc009zfu.2	+	3	756	c.176A>G	c.(175-177)gAa>gGa	p.E59G	PEX5_uc001qsw.3_Missense_Mutation_p.E59G|PEX5_uc010sgc.2_Missense_Mutation_p.E74G|PEX5_uc001qsu.3_Missense_Mutation_p.E59G|PEX5_uc010sgd.2_Missense_Mutation_p.E80G|PEX5_uc001qsv.3_Missense_Mutation_p.E59G	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	59					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTAGCTTCTGAAGATGAGGTA	0.428													G	7343512	A	G	7343512	3	3	194	1	0	0	0	0	1	0	0	0	11748	246	9	4	227	4	PEX5	12	7343512	Missense_Mutation	SNP	A	TCGA-27-2523-01A-01D-1494-08		7343512	126508383	37	13468											
CD163	9332	broad.mit.edu	37	12	7651670	7651670	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:7651670T>A	uc001qsz.3	-	3	700	c.572A>T	c.(571-573)gAt>gTt	p.D191V	CD163_uc001qta.3_Missense_Mutation_p.D191V|CD163_uc009zfw.2_Missense_Mutation_p.D191V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	191	SRCR 2.				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						AGATGCATGATCTATGTTGAA	0.428													A	7651670	T	A	7651670	3	1	194	1	0	0	0	0	1	0	0	0	2967	1435	50	5	2950	5	CD163	12	7651670	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08	308158	7651670	126200225	38	13469											
METTL7A	25840	broad.mit.edu	37	12	51319018	51319018	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:51319018C>T	uc001rxb.3	+	0	485	c.197C>T	c.(196-198)gCg>gTg	p.A66V	METTL7A_uc010smv.1_Missense_Mutation_p.A66V	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	Homo sapiens methyltransferase like 7A (METTL7A), mRNA.	66						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	p.A66V(2)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAGGAGTTTGCGGGCCCCTCC	0.552													T	51319018	C	T	51319018	3	4	194	1	0	0	0	0	1	0	0	0	9505	768	27	1	199	1	METTL7A	12	51319018	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	43667348	51319018	82532877	39	13470											
TRHDE	29953	broad.mit.edu	37	12	73056901	73056901	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:73056901G>A	uc001sxa.3	+	18	3031	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	1001					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGAAACTGTCGAAGCCAATGT	0.373													A	73056901	G	A	73056901	3	1	194	1	0	0	0	0	1	0	0	0	16476	1059	37	2	3075	2	TRHDE	12	73056901	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	21737883	73056901	60794994	40	13471											
NAP1L1	4673	broad.mit.edu	37	12	76447581	76447581	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:76447581A>C	uc001sxw.2	-	8	1151	c.739T>G	c.(739-741)Ttt>Gtt	p.F247V	NAP1L1_uc001sxz.2_Missense_Mutation_p.F178V|NAP1L1_uc010stz.1_Missense_Mutation_p.F64V|NAP1L1_uc001sxx.2_Missense_Mutation_p.F247V|NAP1L1_uc010sty.1_Missense_Mutation_p.F204V|NAP1L1_uc010sua.1_Missense_Mutation_p.F247V|NAP1L1_uc001syb.3_Missense_Mutation_p.F247V	NM_139207	NP_631946	P55209	NP1L1_HUMAN	Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.	247					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GGTCCATCAAAAGAAAAGGGA	0.333													C	76447581	A	C	76447581	3	2	194	1	0	0	0	0	1	0	0	0	10156	14	1	5	464	5	NAP1L1	12	76447581	Missense_Mutation	SNP	A	TCGA-27-2523-01A-01D-1494-08	3390680	76447581	57404314	41	13472											
CRY1	1407	broad.mit.edu	37	12	107393552	107393552	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:107393552C>T	uc001tmi.3	-	6	1773	c.914G>A	c.(913-915)cGc>cAc	p.R305H		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	305	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TTTATCAAAGCGTGGATTATT	0.433													T	107393552	C	T	107393552	3	4	194	1	0	0	0	0	1	0	0	0	3903	768	27	1	870	1	CRY1	12	107393552	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	30945971	107393552	26458343	42	13473											
PCDH9	5101	broad.mit.edu	37	13	67802035	67802035	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr13:67802035C>T	uc001vik.3	-	1	1230	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	PCDH9_uc001vil.3_Missense_Mutation_p.E180K|PCDH9_uc010thl.2_Missense_Mutation_p.E180K|PCDH9_uc001vin.3_Missense_Mutation_p.E180K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	180	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTAACAATTCATAATGCTGT	0.423													T	67802035	C	T	67802035	3	4	194	1	0	0	0	0	1	0	0	0	11518	835	29	3	3191	3	PCDH9	13	67802035	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		67802035	47367843	43	13474											
FOXA1	3169	broad.mit.edu	37	14	38060635	38060635	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr14:38060635G>C	uc001wuf.3	-	1	1666	c.1354C>G	c.(1354-1356)Ccc>Gcc	p.P452A	FOXA1_uc010tpz.2_Missense_Mutation_p.P419A	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	452					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)		AGGGCTGAGGGCTCGATGGGG	0.617													C	38060635	G	C	38060635	3	2	194	1	0	0	0	0	1	0	0	0	5989	1203	42	5	68	5	FOXA1	14	38060635	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		38060635	69288905	44	13475											
LPCAT4	254531	broad.mit.edu	37	15	34653631	34653631	+	Silent	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr15:34653631C>T	uc001zig.3	-	10	1207	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	371					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CACCAGCCACCGTCTGAGGAT	0.587													T	34653631	C	T	34653631	2	4	194	1	0	0	0	0	0	0	0	1	8913	639	23	2		2	LPCAT4	15	34653631	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		34653631	67877761	45	13476											
ITGA11	22801	broad.mit.edu	37	15	68612685	68612685	+	Silent	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr15:68612685G>A	uc010bib.3	-	19	2541	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	ITGA11_uc002ari.3_Silent_p.S818S	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	818					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCGTGTATGCGGAGCAGTCCT	0.592													A	68612685	G	A	68612685	2	1	194	1	0	0	0	0	0	0	0	1	7874	1103	39	2		2	ITGA11	15	68612685	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08	33959054	68612685	33918707	46	13477											
SETD1A	9739	broad.mit.edu	37	16	30976386	30976386	+	Silent	SNP	T	T	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr16:30976386T>C	uc002ead.1	+	6	2009	c.1323T>C	c.(1321-1323)ggT>ggC	p.G441G		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	441	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGAACCTGGTGGAGGCGGGG	0.716													C	30976386	T	C	30976386	2	2	194	1	0	0	0	0	0	0	0	1	14130	1683	59	4		4	SETD1A	16	30976386	Silent	SNP	T	TCGA-27-2523-01A-01D-1494-08		30976386	59378367	47	13478											
PRSS36	146547	broad.mit.edu	37	16	31159857	31159857	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr16:31159857C>T	uc002ebd.3	-	4	471	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	PRSS36_uc010vff.2_5'UTR|PRSS36_uc010vfg.2_Missense_Mutation_p.A138T|PRSS36_uc010vfh.2_Missense_Mutation_p.A138T	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	138	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCCAGGTCGGCGCCCAGCTCC	0.756													T	31159857	C	T	31159857	3	4	194	1	0	0	0	0	1	0	0	0	12625	768	27	1	2199	1	PRSS36	16	31159857	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	183471	31159857	59194896	48	13479											
POLR2A	5430	broad.mit.edu	37	17	7399844	7399844	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:7399844G>A	uc002ghf.4	+	3	835	c.449G>A	c.(448-450)gGc>gAc	p.G150D	POLR2A_uc002ghe.3_Missense_Mutation_p.G150D	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	150					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTTGCAAGGGCAAAAACATA	0.537													A	7399844	G	A	7399844	3	1	194	1	0	0	0	0	1	0	0	0	12214	1203	42	3	463	3	POLR2A	17	7399844	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		7399844	73795366	49	13480											
KIAA0100	9703	broad.mit.edu	37	17	26967617	26967617	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:26967617T>C	uc002hbu.3	-	7	954	c.851A>G	c.(850-852)gAg>gGg	p.E284G	KIAA0100_uc002hbv.3_Missense_Mutation_p.E284G|KIAA0100_uc010crr.2_Missense_Mutation_p.E141G	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	284						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCTTGTGTTCTCCATCTTAAC	0.463													C	26967617	T	C	26967617	3	2	194	1	0	0	0	0	1	0	0	0	8154	1551	54	4	5984	4	KIAA0100	17	26967617	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08	19567773	26967617	54227593	50	13481											
TUBG1	7283	broad.mit.edu	37	17	40766544	40766544	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:40766544C>T	uc002ian.3	+	9	1425	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	343					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GATCCGGGAACGCAAGTTGGC	0.657													T	40766544	C	T	40766544	3	4	194	1	0	0	0	0	1	0	0	0	16761	536	19	1	1065	1	TUBG1	17	40766544	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	13798927	40766544	40428666	51	13482											
TNFRSF11A	8792	broad.mit.edu	37	18	60021766	60021766	+	Silent	SNP	G	G	A	rs139968917		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr18:60021766G>A	uc002lin.3	+	4	465	c.427_splice	c.e4+1	p.L143_splice	TNFRSF11A_uc010dpv.3_Splice_Site_p.L143_splice	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	143					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCCAGCACCCGTGTACGGGTT	0.647													A	60021766	G	A	60021766	2	1	194	1	0	0	0	0	0	0	0	1	16281	1159	40	1		1	TNFRSF11A	18	60021766	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08		60021766	18055482	52	13483											
MUC16	94025	broad.mit.edu	37	19	8962003	8962003	+	Silent	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:8962003G>A	uc002mkp.3	-	82	43578	c.43374C>T	c.(43372-43374)atC>atT	p.I14458I	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.I1258I|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13929	SEA 16.			Missing (in Ref. 3; AAK74120).	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						CTGCCAAGCCGATGAGGATGA	0.577													A	8962003	G	A	8962003	2	1	194	1	0	0	0	0	0	0	0	1	9973	1048	37	2		2	MUC16	19	8962003	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08		8962003	50166980	53	13484											
LPPR2	64748	broad.mit.edu	37	19	11472001	11472001	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:11472001C>T	uc002mrf.2	+	5	801	c.425C>T	c.(424-426)aCg>aTg	p.T142M	LPPR2_uc002mre.2_Missense_Mutation_p.T167M|LPPR2_uc010dxy.2_5'UTR	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	167						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						CCCAACTACACGGCCCTGGGC	0.682													T	11472001	C	T	11472001	3	4	194	1	0	0	0	0	1	0	0	0	8925	536	19	1	514	1	LPPR2	19	11472001	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	2509998	11472001	47656982	54	13485											
CYP4F8	11283	broad.mit.edu	37	19	15726591	15726591	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:15726591G>A	uc002nbi.3	+	1	228	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	CYP4F8_uc010xoi.1_Missense_Mutation_p.R55Q|CYP4F8_uc010xoj.2_Missense_Mutation_p.G17R	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	55					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCGCAGCCCCGGAAACAGAAC	0.642													A	15726591	G	A	15726591	3	1	194	1	0	0	0	0	1	0	0	0	4191	1116	39	2	166	2	CYP4F8	19	15726591	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	4254590	15726591	43402392	55	13486											
PIK3R2	5296	broad.mit.edu	37	19	18277106	18277106	+	Frame_Shift_Del	DEL	T	T	-			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:18277106delT	uc002nia.1	+	11	2065	c.1553delT	c.(1552-1554)atgfs	p.M518fs	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	518					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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GAGAAAGAGATGCAAAGGTGA	0.567													-	18277106	T	-	18277106	7	5	194	1	0	1	0	1	0	0	0	0	11919	1464	51	0	1595	0	PIK3R2	19	18277106	Frame_Shift_Del	DEL	T	TCGA-27-2523-01A-01D-1494-08	2550515	18277106	40851877	56	13487											
KIRREL2	84063	broad.mit.edu	37	19	36351843	36351843	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:36351843G>A	uc002ocb.4	+	7	1173	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	KIRREL2_uc002obz.4_Missense_Mutation_p.V321M|KIRREL2_uc002oca.4_Missense_Mutation_p.V271M|KIRREL2_uc002ocd.4_Missense_Mutation_p.V318M	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	321	Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				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)			GCCGGAGCCCGTGTCCGTGGA	0.672													A	36351843	G	A	36351843	3	1	194	1	0	0	0	0	1	0	0	0	8325	1145	40	1	991	1	KIRREL2	19	36351843	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	18074737	36351843	22777140	57	13488											
SLC17A7	57030	broad.mit.edu	37	19	49934369	49934369	+	Missense_Mutation	SNP	G	G	A	rs17855709		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:49934369G>A	uc002pnp.3	-	10	1464	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	SLC17A7_uc002pno.3_Missense_Mutation_p.P93L	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	431			P -> R (in dbSNP:rs17855709).		glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCGTAGCGCGGGGCTATGTC	0.607													A	49934369	G	A	49934369	3	1	194	1	0	0	0	0	1	0	0	0	14422	1116	39	2	398	2	SLC17A7	19	49934369	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	13582526	49934369	9194614	58	13489											
SULF2	55959	broad.mit.edu	37	20	46386007	46386007	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr20:46386007C>T	uc002xto.3	-	1	431	c.101G>A	c.(100-102)aGg>aAg	p.R34K	SULF2_uc002xtr.3_Missense_Mutation_p.R34K|SULF2_uc002xtq.3_Missense_Mutation_p.R34K|SULF2_uc010ghv.1_Missense_Mutation_p.R34K	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	34					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTCTGAAACCTGCCTTTCAG	0.647													T	46386007	C	T	46386007	3	4	194	1	0	0	0	0	1	0	0	0	15370	681	24	3	2591	3	SULF2	20	46386007	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		46386007	16639513	59	13490											
SLCO4A1	28231	broad.mit.edu	37	20	61291766	61291766	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr20:61291766C>T	uc002ydb.1	+	3	1095	c.890C>T	c.(889-891)aCg>aTg	p.T297M		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	297					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.T297M(2)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTCCACAGGACGGAGCTGACC	0.687													T	61291766	C	T	61291766	3	4	194	1	0	0	0	0	1	0	0	0	14729	536	19	1	900	1	SLCO4A1	20	61291766	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	14905759	61291766	1733754	60	13491											
KRTAP10-5	386680	broad.mit.edu	37	21	46000294	46000294	+	Silent	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr21:46000294C>T	uc002zfl.1	-	0	188	c.162G>A	c.(160-162)gcG>gcA	p.A54A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	54	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCTCACAGGCCGCCTGGCAGC	0.716													T	46000294	C	T	46000294	2	4	194	1	0	0	0	0	0	0	0	1	8512	639	23	2		2	KRTAP10-5	21	46000294	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		46000294	2129601	61	13492											
C1QTNF6	114904	broad.mit.edu	37	22	37581311	37581311	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr22:37581311C>T	uc003aqx.1	-	1	499	c.236G>A	c.(235-237)cGc>cAc	p.R79H	C1QTNF6_uc003aqw.1_Missense_Mutation_p.R60H|C1QTNF6_uc003aqy.1_Missense_Mutation_p.R79H|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	60	Collagen-like.					collagen		p.G78C(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GGCGTGGGGGCGGCCGGAGGA	0.632													T	37581311	C	T	37581311	3	4	194	1	0	0	0	0	1	0	0	0	1967	768	27	1	608	1	C1QTNF6	22	37581311	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		37581311	13723255	62	13493											
GABRQ	55879	broad.mit.edu	37	X	151820044	151820044	+	Silent	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chrX:151820044C>T	uc004ffp.1	+	7	977	c.957C>T	c.(955-957)ctC>ctT	p.L319L		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	319						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATAAGCTCCCCAACATTT	0.448													T	151820044	C	T	151820044	2	4	194	1	0	0	0	0	0	0	0	1	6175	842	30	3		3	GABRQ	23	151820044	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		151820044	3450516	63	13494											
PCDH11Y	83259	broad.mit.edu	37	Y	5605715	5605715	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chrY:5605715C>T	uc004fqo.3	+	4	4489	c.3755C>T	c.(3754-3756)tCt>tTt	p.S1252F	PCDH11Y_uc022ciy.1_Non-coding_Transcript	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1252					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCCACAGCTCTTCTCTGCCA	0.552													T	5605715	C	T	5605715	3	4	194	1	0	0	0	0	1	0	0	0	11509	913	32	3	3831	3	PCDH11Y	24	5605715	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		5605715	53767851	64	13495											
TAS1R1	80835	broad.mit.edu	37	1	6639227	6639227	+	Silent	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:6639227A>G	uc001ant.3	+	5	2205	c.2109A>G	c.(2107-2109)ccA>ccG	p.P703P	TAS1R1_uc001anu.3_Silent_p.P449P|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	703					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGTGGACCCCACTGCCTGCTA	0.577													G	6639227	A	G	6639227	2	3	195	1	0	0	0	0	0	0	0	1	15559	146	6	4		4	TAS1R1	1	6639227	Silent	SNP	A	TCGA-27-2524-01A-01D-1494-08		6639227	242611394	1	13496											
PABPC4	8761	broad.mit.edu	37	1	40029374	40029374	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:40029374G>A	uc001cdl.2	-	11	2478	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V	PABPC4_uc010oiv.1_Missense_Mutation_p.A511V|PABPC4_uc001cdm.2_Missense_Mutation_p.A498V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	511					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCAGCAACAGCAGCGCGTGG	0.572													A	40029374	G	A	40029374	3	1	195	1	0	0	0	0	1	0	0	0	11366	971	34	3	418	3	PABPC4	1	40029374	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	33390147	40029374	209221247	2	13497											
WDR47	22911	broad.mit.edu	37	1	109553699	109553699	+	Silent	SNP	T	T	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:109553699T>A	uc001dwl.3	-	4	1366	c.990A>T	c.(988-990)ggA>ggT	p.G330G	WDR47_uc001dwi.3_Silent_p.G323G|WDR47_uc001dwj.3_Silent_p.G323G|WDR47_uc001dwk.2_Silent_p.G295G|WDR47_uc010ovf.2_Silent_p.G250G	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	323										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GACTGGTTAGTCCACAGGTGA	0.448													A	109553699	T	A	109553699	2	1	195	1	0	0	0	0	0	0	0	1	17297	1654	58	5		5	WDR47	1	109553699	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	69524325	109553699	139696922	3	13498											
RPTN	126638	broad.mit.edu	37	1	152127651	152127651	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:152127651G>A	uc001ezs.1	-	2	1989	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	642	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCGTTCTGCTGTGAGTCCCTA	0.483													A	152127651	G	A	152127651	4	1	195	1	0	0	0	0	0	1	0	0	13664	1386	48	3	434	3	RPTN	1	152127651	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	42573952	152127651	97122970	4	13499											
PLXNA2	5362	broad.mit.edu	37	1	208205103	208205103	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:208205103C>T	uc001hgz.3	-	29	5814	c.5056_splice	c.e29-1	p.G1686_splice	PLXNA2_uc001hgy.3_5'Flank	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1686					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCAGGGTGCCCTGGAGGAG	0.572													T	208205103	C	T	208205103	3	4	195	1	0	0	0	0	1	0	0	0	12120	753	26	3	643	3	PLXNA2	1	208205103	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	56077452	208205103	41045518	5	13500											
ADD2	119	broad.mit.edu	37	2	70890611	70890611	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:70890611G>C	uc021vjc.1	-	15	2392	c.2127C>G	c.(2125-2127)ttC>ttG	p.F709L	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.F709L	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	709	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGGGGTTCGGAATTTCTTTT	0.527													C	70890611	G	C	70890611	3	2	195	1	0	0	0	0	1	0	0	0	305	1165	41	5	57	5	ADD2	2	70890611	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		70890611	172308762	6	13501											
CLASP1	23332	broad.mit.edu	37	2	122216417	122216417	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:122216417C>T	uc002tnc.3	-	13	1704	c.1314_splice	c.e13+1	p.R438_splice	CLASP1_uc002tna.3_5'Flank|CLASP1_uc010yyw.2_Splice_Site|CLASP1_uc002tnb.3_Splice_Site|CLASP1_uc010yyx.2_Splice_Site|CLASP1_uc010yyy.2_Splice_Site|CLASP1_uc010yyz.2_Splice_Site_p.R438_splice|CLASP1_uc010yza.2_Splice_Site_p.R438_splice|CLASP1_uc021vnl.1_Splice_Site_p.R438_splice|CLASP1_uc010yzc.2_Splice_Site|CLASP1_uc002tng.1_Splice_Site_p.R438_splice	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	438					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CATACTTACCCGAATAATTAA	0.338													T	122216417	C	T	122216417	3	4	195	1	0	0	0	0	1	0	0	0	3454	666	23	2	3467	2	CLASP1	2	122216417	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	51325806	122216417	120982956	7	13502											
MBD5	55777	broad.mit.edu	37	2	149220206	149220206	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:149220206G>A	uc002twm.4	+	6	1166	c.169G>A	c.(169-171)Gat>Aat	p.D57N	MBD5_uc010zbs.2_Non-coding_Transcript	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	57	MBD.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCTGCTTACTGATGGAACATG	0.353													A	149220206	G	A	149220206	3	1	195	1	0	0	0	0	1	0	0	0	9347	1290	45	3	175	3	MBD5	2	149220206	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	27003789	149220206	93979167	8	13503											
PMS1	5378	broad.mit.edu	37	2	190660525	190660525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:190660525C>T	uc002urh.4	+	2	692	c.163C>T	c.(163-165)Cga>Tga	p.R55*	PMS1_uc010zga.1_Nonsense_Mutation_p.R55*|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.4_Nonsense_Mutation_p.R55*|PMS1_uc002uri.4_Nonsense_Mutation_p.R55*|PMS1_uc010zgc.2_5'UTR|PMS1_uc010zgd.2_Intron|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Nonsense_Mutation_p.R55*|PMS1_uc010frz.3_Nonsense_Mutation_p.R55*|PMS1_uc010zfz.1_Nonsense_Mutation_p.R55*	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	55					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATTGAGGTGCGAGATAACGG	0.323			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					T	190660525	C	T	190660525	4	4	195	1	0	0	0	0	0	1	0	0	12142	760	27	1	169	1	PMS1	2	190660525	Nonsense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	41440319	190660525	52538848	9	13504											
DYTN	391475	broad.mit.edu	37	2	207530695	207530695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:207530695G>A	uc002vbr.1	-	9	1156	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	347						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTTTCTTCCTGGGAGGTGTAT	0.408													A	207530695	G	A	207530695	4	1	195	1	0	0	0	0	0	1	0	0	4861	1357	47	3	709	3	DYTN	2	207530695	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	16870170	207530695	35668678	10	13505											
WNT10A	80326	broad.mit.edu	37	2	219745829	219745829	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:219745829A>T	uc002vjd.1	+	1	576	c.113_splice	c.e1+1	p.R38_splice		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	38					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCATGCCCAGGTGAGCCCT	0.687													T	219745829	A	T	219745829	3	4	195	1	0	0	0	0	1	0	0	0	17379	202	7	5	114	5	WNT10A	2	219745829	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08	12215134	219745829	23453544	11	13506											
KCNJ13	3769	broad.mit.edu	37	2	233632952	233632952	+	Silent	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:233632952A>G	uc002vto.3	-	1	1075	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_3'UTR|KCNJ13_uc002vtp.3_Silent_p.N344N|KCNJ13_uc021vyk.1_Silent_p.N264N	NM_001172417	NP_001165888	O60928	IRK13_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.	344						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGCTTTGTCCATTGATGTGGA	0.383													G	233632952	A	G	233632952	2	3	195	1	0	0	0	0	0	0	0	1	8047	214	8	4		4	KCNJ13	2	233632952	Silent	SNP	A	TCGA-27-2524-01A-01D-1494-08	13887123	233632952	9566421	12	13507											
CAND2	23066	broad.mit.edu	37	3	12856711	12856711	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr3:12856711G>T	uc003bxk.2	+	7	1127	c.1078G>T	c.(1078-1080)Gca>Tca	p.A360S	CAND2_uc003bxj.2_Missense_Mutation_p.A267S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	360					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAAGTGCATCGCAGCCTTGAT	0.597													T	12856711	G	T	12856711	3	4	195	1	0	0	0	0	1	0	0	0	2616	1087	38	5	1108	5	CAND2	3	12856711	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		12856711	185165719	13	13508											
SLC7A11	23657	broad.mit.edu	37	4	139100426	139100426	+	Silent	SNP	C	C	A	rs145453312	by1000genomes	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr4:139100426C>A	uc021xrw.1	-	10	1669	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	463					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	AGAGATAATACGCAGGGACTC	0.423													A	139100426	C	A	139100426	2	1	195	1	0	0	0	0	0	0	0	1	14694	523	19	5		5	SLC7A11	4	139100426	Silent	SNP	C	TCGA-27-2524-01A-01D-1494-08		139100426	52053850	14	13509											
CARD6	84674	broad.mit.edu	37	5	40843343	40843343	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:40843343C>A	uc003jmg.3	+	1	448	c.373C>A	c.(373-375)Cct>Act	p.P125T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	125					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AATAAAACAGCCTGAAGCCCC	0.403													A	40843343	C	A	40843343	3	1	195	1	0	0	0	0	1	0	0	0	2650	739	26	5	379	5	CARD6	5	40843343	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		40843343	140071917	15	13510											
HARS	3035	broad.mit.edu	37	5	140056309	140056309	+	Missense_Mutation	SNP	C	C	T	rs151258227		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:140056309C>T	uc003lgv.3	-	9	1206	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	HARS_uc003lgu.3_Missense_Mutation_p.R306H|HARS_uc011czm.2_Missense_Mutation_p.R335H|HARS_uc003lgw.3_Missense_Mutation_p.R355H|HARS_uc011czn.2_Missense_Mutation_p.R315H|HARS_uc011czo.2_Missense_Mutation_p.R301H|HARS_uc011czp.2_Missense_Mutation_p.R261H|HARS_uc011czq.2_Missense_Mutation_p.R265H	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	375					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TGGCACCTTGCGCCCTTTGGG	0.597													T	140056309	C	T	140056309	3	4	195	1	0	0	0	0	1	0	0	0	6959	768	27	1	421	1	HARS	5	140056309	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	99212966	140056309	40858951	16	13511											
PCDHB13	56123	broad.mit.edu	37	5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:140594357C>T	uc003lja.1	+	0	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P221L(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532													T	140594357	C	T	140594357	3	4	195	1	0	0	0	0	1	0	0	0	11538	652	23	2	664	2	PCDHB13	5	140594357	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	538048	140594357	40320903	17	13512											
RREB1	6239	broad.mit.edu	37	6	7229251	7229251	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:7229251C>T	uc003mxb.3	+	9	1411	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	RREB1_uc021yky.1_Missense_Mutation_p.R307W|RREB1_uc003mxc.3_Missense_Mutation_p.R307W|RREB1_uc010jnx.3_Missense_Mutation_p.R307W|RREB1_uc021ykz.1_Missense_Mutation_p.R307W|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	307					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACAAACCTGCGGAGGTGCAT	0.507													T	7229251	C	T	7229251	3	4	195	1	0	0	0	0	1	0	0	0	13679	759	27	1	945	1	RREB1	6	7229251	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		7229251	163885816	18	13513											
TDP2	51567	broad.mit.edu	37	6	24658115	24658115	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:24658115T>C	uc003nej.3	-	3	467	c.442A>G	c.(442-444)Ata>Gta	p.I148V	TDP2_uc010jpu.1_Missense_Mutation_p.I148V	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	148					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TGTAGAAATATCACATCTGGG	0.313								Direct reversal of damage					C	24658115	T	C	24658115	3	2	195	1	0	0	0	0	1	0	0	0	15726	1435	50	4	662	4	TDP2	6	24658115	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	17428864	24658115	146456952	19	13514											
MDC1	9656	broad.mit.edu	37	6	30671570	30671570	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:30671570G>A	uc003nrg.4	-	9	5830	c.5390C>T	c.(5389-5391)tCt>tTt	p.S1797F	MDC1_uc003nrf.4_Missense_Mutation_p.S428F|MDC1_uc011dmp.1_Missense_Mutation_p.S1404F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1797	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGTGAACCTAGATCTACCTGC	0.537								Other conserved DNA damage response genes					A	30671570	G	A	30671570	3	1	195	1	0	0	0	0	1	0	0	0	9403	942	33	3	903	3	MDC1	6	30671570	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	6013455	30671570	140443497	20	13515											
DST	667	broad.mit.edu	37	6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:56566691G>A	uc021zay.1	-	4	562	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DST_uc011dxl.1_Missense_Mutation_p.R135C|DST_uc021zaz.1_Missense_Mutation_p.R106C	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	106	Actin-binding.				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.E146K(1)		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)			CATACCTGGCGTCTTTTCAAA	0.343													A	56566691	G	A	56566691	3	1	195	1	0	0	0	0	1	0	0	0	4783	1160	40	1		1	DST	6	56566691	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	25895121	56566691	114548376	21	13516											
PMS2	5395	broad.mit.edu	37	7	6026906	6026906	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:6026906C>T	uc003spl.3	-	10	1577	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	PMS2_uc003spj.3_Missense_Mutation_p.G391D|PMS2_uc003spk.3_Missense_Mutation_p.G362D|PMS2_uc011jwl.2_Missense_Mutation_p.G362D|PMS2_uc010ktg.3_Missense_Mutation_p.G186D|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.G497D	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	497					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGAAGTGCTGCCGTGCCCCGA	0.632			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				T	6026906	C	T	6026906	3	4	195	1	0	0	0	0	1	0	0	0	12143	739	26	3	1118	3	PMS2	7	6026906	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		6026906	153111757	22	13517											
ARPP21	445347	broad.mit.edu	37	7	38305013	38305013	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:38305013C>T	uc003tge.1	-	4	1071	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	ARPP21_uc022aby.1_Missense_Mutation_p.V28I|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_Missense_Mutation_p.V28I|ARPP21_uc003tgc.1_Missense_Mutation_p.V28I|ARPP21_uc003tgd.1_Missense_Mutation_p.V28I|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCATGTCTGACGATACATCTG	0.393													T	38305013	C	T	38305013	3	4	195	1	0	0	0	0	1	0	0	0	978	536	19	1		1	ARPP21	7	38305013	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	32278107	38305013	120833650	23	13518											
PCLO	27445	broad.mit.edu	37	7	82584287	82584287	+	Silent	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:82584287T>C	uc003uhx.2	-	4	6271	c.5982A>G	c.(5980-5982)agA>agG	p.R1994R	PCLO_uc003uhv.2_Silent_p.R1994R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1925					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						GTTCTGAAAGTCTTATCTTTT	0.388													C	82584287	T	C	82584287	2	2	195	1	0	0	0	0	0	0	0	1	11583	1664	58	4		4	PCLO	7	82584287	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	44279274	82584287	76554376	24	13519											
TRRAP	8295	broad.mit.edu	37	7	98509724	98509724	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:98509724G>A	uc003upp.3	+	17	2296	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	TRRAP_uc011kis.2_Missense_Mutation_p.R696H|TRRAP_uc003upr.3_Missense_Mutation_p.R388H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	696					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTTGATCGCCTGCCAGAA	0.468													A	98509724	G	A	98509724	3	1	195	1	0	0	0	0	1	0	0	0	16598	1087	38	1	2153	1	TRRAP	7	98509724	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	15925437	98509724	60628939	25	13520											
PLOD3	8985	broad.mit.edu	37	7	100852149	100852149	+	Silent	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:100852149T>C	uc003uyd.3	-	15	2229	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	591					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			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)	GCCGGCCGCCTGACCACTGGC	0.582													C	100852149	T	C	100852149	2	2	195	1	0	0	0	0	0	0	0	1	12103	1567	55	4		4	PLOD3	7	100852149	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	2342425	100852149	58286514	26	13521											
KIAA1549	57670	broad.mit.edu	37	7	138603251	138603251	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:138603251G>A	uc011kql.2	-	1	1170	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	KIAA1549_uc011kqj.2_Missense_Mutation_p.P374L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	374						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AACATCAGTTGGTGAAGCAGA	0.507			O	BRAF	pilocytic astrocytoma								A	138603251	G	A	138603251	3	1	195	1	0	0	0	0	1	0	0	0	8244	1348	47	3	4807	3	KIAA1549	7	138603251	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	37751102	138603251	20535412	27	13522											
TRPV5	56302	broad.mit.edu	37	7	142609825	142609825	+	Silent	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:142609825A>G	uc003wby.1	-	12	1875	c.1611T>C	c.(1609-1611)ttT>ttC	p.F537F		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	537					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAACAGTGAGAAAAAGCTCAA	0.502													G	142609825	A	G	142609825	2	3	195	1	0	0	0	0	0	0	0	1	16596	243	9	4		4	TRPV5	7	142609825	Silent	SNP	A	TCGA-27-2524-01A-01D-1494-08	4006574	142609825	16528838	28	13523											
ECM2	1842	broad.mit.edu	37	9	95263237	95263237	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr9:95263237A>G	uc011lty.2	-	8	1890	c.1703T>C	c.(1702-1704)aTt>aCt	p.I568T	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.I546T|ECM2_uc004asg.3_Missense_Mutation_p.I546T|ECM2_uc010mqz.2_5'UTR	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	568					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GATCCGTTCAATCTGGTTCCC	0.478													G	95263237	A	G	95263237	3	3	195	1	0	0	0	0	1	0	0	0	4898	101	4	4	404	4	ECM2	9	95263237	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08		95263237	45950194	29	13524											
KIAA1217	56243	broad.mit.edu	37	10	24832950	24832950	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:24832950C>A	uc001iru.4	+	18	5154	c.4751C>A	c.(4750-4752)gCt>gAt	p.A1584D	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.A1267D|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.A420D	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1584					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						CAACTCGCCGCTCTCACTCAA	0.473													A	24832950	C	A	24832950	3	1	195	1	0	0	0	0	1	0	0	0	8216	797	28	5	4825	5	KIAA1217	10	24832950	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		24832950	110701797	30	13525											
AGAP7	653268	broad.mit.edu	37	10	51464835	51464835	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:51464835C>T	uc001jio.3	-	6	1747	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	541	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATCCACCGTTCCTTCTCTTCC	0.572													T	51464835	C	T	51464835	3	4	195	1	0	0	0	0	1	0	0	0	373	864	30	3	374	3	AGAP7	10	51464835	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	26631885	51464835	84069912	31	13526											
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:89692904C>T	uc001kfb.3	+	4	1420	c.388C>T	c.(388-390)Cga>Tga	p.R130*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692904	C	T	89692904	4	4	195	1	0	0	0	0	0	1	0	0	12738	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	38228069	89692904	45841843	32	13527											
OR51B2	79345	broad.mit.edu	37	11	5344773	5344773	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:5344773G>A	uc001mao.1	-	0	810	c.755C>T	c.(754-756)aCa>aTa	p.T252I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCATCACTGTAACATAGAA	0.393													A	5344773	G	A	5344773	3	1	195	1	0	0	0	0	1	0	0	0	11089	1377	48	3	187	3	OR51B2	11	5344773	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		5344773	129661743	33	13528											
OR52D1	390066	broad.mit.edu	37	11	5510785	5510785	+	Silent	SNP	C	C	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:5510785C>G	uc010qzg.2	+	0	871	c.849C>G	c.(847-849)ctC>ctG	p.L283L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTAATCTCTATGTGCTGG	0.493													G	5510785	C	G	5510785	2	3	195	1	0	0	0	0	0	0	0	1	11114	900	32	5		5	OR52D1	11	5510785	Silent	SNP	C	TCGA-27-2524-01A-01D-1494-08	166012	5510785	129495731	34	13529											
SLC17A6	57084	broad.mit.edu	37	11	22363249	22363249	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:22363249C>A	uc001mqk.3	+	1	675	c.262C>A	c.(262-264)Cgc>Agc	p.R88S		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	88					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTCGGTATCCGCTGCAACCT	0.642													A	22363249	C	A	22363249	3	1	195	1	0	0	0	0	1	0	0	0	14421	652	23	5	268	5	SLC17A6	11	22363249	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	16852464	22363249	112643267	35	13530											
CD5	921	broad.mit.edu	37	11	60885944	60885944	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:60885944C>A	uc009ynk.3	+	2	495	c.392C>A	c.(391-393)aCc>aAc	p.T131N		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	131	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGGGCCTGACCTGCTTAGGT	0.607													A	60885944	C	A	60885944	3	1	195	1	0	0	0	0	1	0	0	0	3021	507	18	5	402	5	CD5	11	60885944	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	38522695	60885944	74120572	36	13531											
OR2AT4	341152	broad.mit.edu	37	11	74799893	74799893	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:74799893A>T	uc010rro.2	-	0	866	c.866T>A	c.(865-867)aTt>aAt	p.I289N		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGGGTTGAGAATTGGTGTGAG	0.488													T	74799893	A	T	74799893	3	4	195	1	0	0	0	0	1	0	0	0	10987	101	4	5	99	5	OR2AT4	11	74799893	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08	13913949	74799893	60206623	37	13532											
MLL	4297	broad.mit.edu	37	11	118382698	118382698	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:118382698G>C	uc001pta.3	+	30	11118	c.11095G>C	c.(11095-11097)Gaa>Caa	p.E3699Q	MLL_uc001ptb.3_Missense_Mutation_p.E3702Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3699	FYR C-terminal.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TAAAGTCCAGGAAGCTCGATC	0.418			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								C	118382698	G	C	118382698	3	2	195	1	0	0	0	0	1	0	0	0	9620	1175	41	5	11217	5	MLL	11	118382698	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	43582805	118382698	16623818	38	13533											
OR8G2	26492	broad.mit.edu	37	11	124095935	124095935	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:124095935T>C	uc010saf.2	+	0	538	c.538T>C	c.(538-540)Ttt>Ctt	p.F180L		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	180						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTGAGACTCTTTTTGTGCAA	0.428													C	124095935	T	C	124095935	3	2	195	1	0	0	0	0	1	0	0	0	11235	1609	56	4	540	4	OR8G2	11	124095935	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	5713237	124095935	10910581	39	13534											
ERP27	121506	broad.mit.edu	37	12	15073953	15073953	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:15073953G>A	uc001rco.3	-	3	384	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	121	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CAATGTCTTCGTCCTCTAAAT	0.378													A	15073953	G	A	15073953	2	1	195	1	0	0	0	0	0	0	0	1	5241	1136	40	1		1	ERP27	12	15073953	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08		15073953	118777942	40	13535											
SLCO1B3	338821	broad.mit.edu	37	12	21175884	21175884	+	Silent	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:21175884T>C	uc010sil.2	+						SLCO1B3_uc010sim.2_Silent_p.S194S|SLCO1B3_uc010sin.2_Silent_p.S147S			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGGGGATTTCTTACATTGATG	0.383													C	21175884	T	C	21175884	2	2	195	1	0	0	0	0	0	0	0	1	14724	1596	56	4		4	SLCO1B3	12	21175884	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	6101931	21175884	112676011	41	13536											
ABCD2	225	broad.mit.edu	37	12	40012546	40012546	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:40012546T>C	uc001rmb.2	-	0	1298	c.872A>G	c.(871-873)tAt>tGt	p.Y291C		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	291	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.G290G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATACCGCAAATAGCCTTTTCT	0.413													C	40012546	T	C	40012546	3	2	195	1	0	0	0	0	1	0	0	0	61	1406	49	4	1390	4	ABCD2	12	40012546	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	18836662	40012546	93839349	42	13537											
AMHR2	269	broad.mit.edu	37	12	53823327	53823327	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:53823327G>A	uc001scx.2	+	7	1138	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	AMHR2_uc009zmy.2_Missense_Mutation_p.G353D|AMHR2_uc021qyg.1_Missense_Mutation_p.G353D	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	353	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGAGACCTGGGCCTTGCCTTG	0.572													A	53823327	G	A	53823327	3	1	195	1	0	0	0	0	1	0	0	0	573	1203	42	3	1088	3	AMHR2	12	53823327	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	13810781	53823327	80028568	43	13538											
LUM	4060	broad.mit.edu	37	12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:91497971G>A	uc001tbm.3	-	2	1377	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	330					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R330H(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGCAACACGTAGACATTCA	0.383													A	91497971	G	A	91497971	3	1	195	1	0	0	0	0	1	0	0	0	9085	1145	40	1	32	1	LUM	12	91497971	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	37674644	91497971	42353924	44	13539											
CORO1C	23603	broad.mit.edu	37	12	109052586	109052586	+	Silent	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:109052586G>C	uc009zva.3	-	4	766	c.717C>G	c.(715-717)ggC>ggG	p.G239G	CORO1C_uc001tnj.3_Silent_p.G186G|CORO1C_uc010sxf.2_Silent_p.G149G	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	186					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AGATCAGACTGCCATTCCGGT	0.433													C	109052586	G	C	109052586	2	2	195	1	0	0	0	0	0	0	0	1	3755	1306	46	5		5	CORO1C	12	109052586	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	17554615	109052586	24799309	45	13540											
TRPV4	59341	broad.mit.edu	37	12	110226433	110226433	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:110226433G>A	uc001tpj.2	-	11	2075	c.1980C>T	c.(1978-1980)tgC>tgT	p.C660C	TRPV4_uc001tpg.2_Silent_p.C626C|TRPV4_uc021rdp.1_Silent_p.C600C|TRPV4_uc001tph.2_Silent_p.C613C|TRPV4_uc001tpi.2_Silent_p.C553C|TRPV4_uc001tpk.2_Silent_p.C660C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	660					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.C660C(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGCTGTCACGGCACGAGGGGT	0.597													A	110226433	G	A	110226433	2	1	195	1	0	0	0	0	0	0	0	1	16595	1195	42	3		3	TRPV4	12	110226433	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	1173847	110226433	23625462	46	13541											
TRPV4	59341	broad.mit.edu	37	12	110238470	110238470	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:110238470C>T	uc001tpj.2	-	3	901	c.806G>A	c.(805-807)cGt>cAt	p.R269H	TRPV4_uc001tpg.2_Missense_Mutation_p.R235H|TRPV4_uc021rdp.1_Missense_Mutation_p.R269H|TRPV4_uc001tph.2_Intron|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Missense_Mutation_p.R269H	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	269			R -> C (in CMT2C).|R -> H (in CMT2C and DSMAC).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAAGCGCCCACGGGCCTGGGC	0.632													T	110238470	C	T	110238470	3	4	195	1	0	0	0	0	1	0	0	0	16595	536	19	1	1857	1	TRPV4	12	110238470	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	12037	110238470	23613425	47	13542											
RB1	5925	broad.mit.edu	37	13	48951053	48951053	+	Splice_Site	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr13:48951053G>C	uc001vcb.3	+	13	1382	c.1216_splice	c.e13-1	p.N406_splice	RB1_uc010act.1_Splice_Site_p.N107_splice	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	406	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTCCTAAAGAACTGCACAG	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			C	48951053	G	C	48951053	5	2	195	1	0	0	0	0	0	0	1	0	13098	956	33	5	1265	5	RB1	13	48951053	Splice_Site	SNP	G	TCGA-27-2524-01A-01D-1494-08		48951053	66218825	48	13543											
LEO1	123169	broad.mit.edu	37	15	52258194	52258194	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr15:52258194T>C	uc002abo.3	-	1	582	c.566A>G	c.(565-567)gAt>gGt	p.D189G	LEO1_uc010bfd.3_Missense_Mutation_p.D189G	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA.	189	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTCCTCATCATCTGTGTTCTG	0.433													C	52258194	T	C	52258194	3	2	195	1	0	0	0	0	1	0	0	0	8726	1435	50	4	1478	4	LEO1	15	52258194	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08		52258194	50273198	49	13544											
PDILT	204474	broad.mit.edu	37	16	20380898	20380898	+	Silent	SNP	G	G	A	rs150342728	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:20380898G>A	uc002dhc.1	-	7	1255	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	344					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.D344D(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTACCTGGCGTCAGAGCTCA	0.468													A	20380898	G	A	20380898	2	1	195	1	0	0	0	0	0	0	0	1	11674	1136	40	1		1	PDILT	16	20380898	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08		20380898	69973855	50	13545											
CHD9	80205	broad.mit.edu	37	16	53330872	53330872	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:53330872A>G	uc002ehb.3	+	28	5679	c.5515A>G	c.(5515-5517)Aca>Gca	p.T1839A	CHD9_uc002egy.3_Missense_Mutation_p.T1839A|CHD9_uc002ehc.3_Missense_Mutation_p.T1839A|CHD9_uc002ehf.3_Missense_Mutation_p.T953A|CHD9_uc002ehg.2_Missense_Mutation_p.T953A|CHD9_uc010cbw.3_Missense_Mutation_p.T207A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1839					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAATAGATGGACAAGAAGAGA	0.299													G	53330872	A	G	53330872	3	3	195	1	0	0	0	0	1	0	0	0	3332	275	10	4	5629	4	CHD9	16	53330872	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08	32949974	53330872	37023881	51	13546											
ZFHX3	463	broad.mit.edu	37	16	72827367	72827367	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:72827367C>T	uc002fck.3	-	8	9887	c.9214G>A	c.(9214-9216)Gta>Ata	p.V3072I	ZFHX3_uc002fcl.3_Missense_Mutation_p.V2158I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3072					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.T3071T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACTGACGTACGGTGGCTGGG	0.488													T	72827367	C	T	72827367	3	4	195	1	0	0	0	0	1	0	0	0	17631	536	19	1	1905	1	ZFHX3	16	72827367	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	19496495	72827367	17527386	52	13547											
CPD	1362	broad.mit.edu	37	17	28770823	28770823	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:28770823C>A	uc002hfb.2	+	10	2434	c.2377C>A	c.(2377-2379)Cat>Aat	p.H793N	CPD_uc010wbo.2_Missense_Mutation_p.H546N|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	793	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AATCCAGGTTCATCAGGGCGT	0.378													A	28770823	C	A	28770823	3	1	195	1	0	0	0	0	1	0	0	0	3798	826	29	5	2419	5	CPD	17	28770823	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		28770823	52424387	53	13548											
CPD	1362	broad.mit.edu	37	17	28770972	28770972	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:28770972C>G	uc002hfb.2	+	10	2583	c.2526C>G	c.(2524-2526)atC>atG	p.I842M	CPD_uc010wbo.2_Missense_Mutation_p.I595M|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	842	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTTATAAAATCACAGCATCTG	0.423													G	28770972	C	G	28770972	3	3	195	1	0	0	0	0	1	0	0	0	3798	816	29	5	2568	5	CPD	17	28770972	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	149	28770972	52424238	54	13549											
SLC4A1	6521	broad.mit.edu	37	17	42337808	42337808	+	Missense_Mutation	SNP	C	C	T	rs55735880		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:42337808C>T	uc002igf.4	-	5	598	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SLC4A1_uc021tyc.1_Missense_Mutation_p.R150Q	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	150					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCTCTCGGTCCTGAGG	0.607													T	42337808	C	T	42337808	3	4	195	1	0	0	0	0	1	0	0	0	14650	884	31	2	2346	2	SLC4A1	17	42337808	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	13566836	42337808	38857402	55	13550											
GJC1	10052	broad.mit.edu	37	17	42882259	42882259	+	Silent	SNP	G	G	T	rs138440006		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:42882259G>T	uc002ihj.3	-	1	1438	c.927C>A	c.(925-927)atC>atA	p.I309I	GJC1_uc002ihk.3_Silent_p.I309I|GJC1_uc002ihl.3_Silent_p.I309I|GJC1_uc021tyf.1_Silent_p.I309I	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	309					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GCTTGTAGGCGATCTTAGCAT	0.507													T	42882259	G	T	42882259	2	4	195	1	0	0	0	0	0	0	0	1	6414	1048	37	5		5	GJC1	17	42882259	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	544451	42882259	38312951	56	13551											
FMNL1	752	broad.mit.edu	37	17	43322740	43322740	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:43322740C>T	uc002iin.3	+	21	3049	c.2849C>T	c.(2848-2850)tCg>tTg	p.S950L	FMNL1_uc002iiq.3_Missense_Mutation_p.S528L|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Missense_Mutation_p.S277L|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	950	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGGGCCAACTCGCCCACCATG	0.617													T	43322740	C	T	43322740	3	4	195	1	0	0	0	0	1	0	0	0	5951	893	31	2	2935	2	FMNL1	17	43322740	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	440481	43322740	37872470	57	13552											
C17orf47	284083	broad.mit.edu	37	17	56621327	56621327	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:56621327T>A	uc002iwq.2	-	0	407	c.221A>T	c.(220-222)cAg>cTg	p.Q74L		NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	74										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGTCCTGACTGGAGGGAGAC	0.567													A	56621327	T	A	56621327	3	1	195	1	0	0	0	0	1	0	0	0	1858	1580	55	5	1499	5	C17orf47	17	56621327	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	13298587	56621327	24573883	58	13553											
USP32	84669	broad.mit.edu	37	17	58258719	58258719	+	Missense_Mutation	SNP	C	C	T	rs17405739	by1000genomes	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:58258719C>T	uc002iyo.1	-	31	4800	c.4514G>A	c.(4513-4515)cGt>cAt	p.R1505H	USP32_uc002iyn.1_Missense_Mutation_p.R1175H	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1505					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGGCTTAATACGAGTATCTTC	0.383													T	58258719	C	T	58258719	3	4	195	1	0	0	0	0	1	0	0	0	17060	536	19	1	312	1	USP32	17	58258719	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	1637392	58258719	22936491	59	13554											
GAA	2548	broad.mit.edu	37	17	78081639	78081639	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:78081639C>T	uc002jxp.3	+	4	1266	c.899C>T	c.(898-900)gCg>gTg	p.A300V	GAA_uc002jxo.3_Missense_Mutation_p.A300V|GAA_uc002jxq.3_Missense_Mutation_p.A300V	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	300					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TTCTACCTGGCGCTGGAGGAC	0.697													T	78081639	C	T	78081639	3	4	195	1	0	0	0	0	1	0	0	0	6147	768	27	1	913	1	GAA	17	78081639	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	19822920	78081639	3113571	60	13555											
MUC16	94025	broad.mit.edu	37	19	9056586	9056586	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr19:9056586G>T	uc002mkp.3	-	2	31064	c.30860C>A	c.(30859-30861)aCt>aAt	p.T10287N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10289	Ser-rich.|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						GGCAAATGAAGTCATGGCCTC	0.493													T	9056586	G	T	9056586	3	4	195	1	0	0	0	0	1	0	0	0	9973	1029	36	5	12991	5	MUC16	19	9056586	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		9056586	50072397	61	13556											
NR1H2	7376	broad.mit.edu	37	19	50882004	50882004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr19:50882004delC	uc010enw.3	+	5	1167	c.698delC	c.(697-699)gccfs	p.A233fs	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Del_p.A136fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	233	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.A232T(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTGGTGGCGGCCCAACTGCAG	0.612													-	50882004	C	-	50882004	7	5	195	1	0	1	0	1	0	0	0	0	10617	739	26	0	712	0	NR1H2	19	50882004	Frame_Shift_Del	DEL	C	TCGA-27-2524-01A-01D-1494-08	41825418	50882004	8246979	62	13557											
SIRPG	55423	broad.mit.edu	37	20	1616837	1616837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:1616837G>A	uc002wfm.1	-	2	810	c.745C>T	c.(745-747)Cga>Tga	p.R249*	SIRPG_uc002wfn.1_Nonsense_Mutation_p.R249*|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	249					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCTCTACCTCGGATGGCCTCA	0.622													A	1616837	G	A	1616837	4	1	195	1	0	0	0	0	0	1	0	0	14336	1124	39	2	430	2	SIRPG	20	1616837	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		1616837	61408683	63	13558											
PLK1S1	55857	broad.mit.edu	37	20	21143753	21143753	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:21143753C>G	uc002wsb.3	+	5	1438	c.1305C>G	c.(1303-1305)agC>agG	p.S435R	PLK1S1_uc010zsh.2_Missense_Mutation_p.S332R|PLK1S1_uc010zsi.2_Missense_Mutation_p.S302R|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	435					spindle organization	centrosome	protein kinase binding										AAACCCTAAGCTCTCCTGATT	0.368													G	21143753	C	G	21143753	3	3	195	1	0	0	0	0	1	0	0	0	12095	796	28	5	1327	5	PLK1S1	20	21143753	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	19526916	21143753	41881767	64	13559											
PYGB	5834	broad.mit.edu	37	20	25271172	25271172	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:25271172G>T	uc002wup.3	+	15	1992	c.1883G>T	c.(1882-1884)gGc>gTc	p.G628V	BC128043_uc010gdm.1_5'Flank	NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	628					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	p.G628G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	ACCTCCATCGGCGACGTCGTC	0.522													T	25271172	G	T	25271172	3	4	195	1	0	0	0	0	1	0	0	0	12860	1203	42	5	1945	5	PYGB	20	25271172	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	4127419	25271172	37754348	65	13560											
SLC32A1	140679	broad.mit.edu	37	20	37356106	37356106	+	Silent	SNP	G	G	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:37356106G>C	uc002xjc.3	+	1	665	c.402G>C	c.(400-402)gtG>gtC	p.V134V		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	134					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCATGTTCGTGCTGGGCCTAC	0.647													C	37356106	G	C	37356106	2	2	195	1	0	0	0	0	0	0	0	1	14565	1306	46	5		5	SLC32A1	20	37356106	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	12084934	37356106	25669414	66	13561											
CASS4	57091	broad.mit.edu	37	20	55033502	55033502	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:55033502T>A	uc002xxp.2	+	6	2285	c.2060T>A	c.(2059-2061)aTc>aAc	p.I687N	CASS4_uc010zze.1_Missense_Mutation_p.I633N|CASS4_uc002xxr.2_Missense_Mutation_p.I687N|CASS4_uc010gio.2_Missense_Mutation_p.I250N	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	687					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTCAAAGCCATCAGCGCATTT	0.577													A	55033502	T	A	55033502	3	1	195	1	0	0	0	0	1	0	0	0	2683	1435	50	5	2082	5	CASS4	20	55033502	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	17677396	55033502	7992018	67	13562											
SLCO4A1	28231	broad.mit.edu	37	20	61288142	61288142	+	Silent	SNP	C	C	T			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:61288142C>T	uc002ydb.1	+	1	541	c.336C>T	c.(334-336)gcC>gcT	p.A112A		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	112					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGTGTGCGGCCGCATTCCTGC	0.647													T	61288142	C	T	61288142	2	4	195	1	0	0	0	0	0	0	0	1	14729	639	23	2		2	SLCO4A1	20	61288142	Silent	SNP	C	TCGA-27-2524-01A-01D-1494-08	6254640	61288142	1737378	68	13563											
POTEH	23784	broad.mit.edu	37	22	16287657	16287657	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr22:16287657T>C	uc010gqp.2	-	0	281	c.229A>G	c.(229-231)Aag>Gag	p.K77E	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	77								p.G76C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACGTTGCTCTTGCCGCTCCCC	0.587													C	16287657	T	C	16287657	3	2	195	1	0	0	0	0	1	0	0	0	12267	1821	63	4	1448	4	POTEH	22	16287657	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08		16287657	35016909	69	13564											
ELFN2	114794	broad.mit.edu	37	22	37769172	37769172	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr22:37769172G>A	uc003asq.4	-	2	3189	c.2403C>T	c.(2401-2403)gaC>gaT	p.D801D	ELFN2_uc021wph.1_Silent_p.D801D	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	801						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GCAGATCCTCGTCCTTGGCGA	0.632													A	37769172	G	A	37769172	2	1	195	1	0	0	0	0	0	0	0	1	5058	1136	40	1		1	ELFN2	22	37769172	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	21481515	37769172	13535394	70	13565											
RIBC1	158787	broad.mit.edu	37	X	53455349	53455349	+	Silent	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:53455349G>A	uc004dsk.3	+	4	522	c.318G>A	c.(316-318)aaG>aaA	p.K106K	RIBC1_uc004dsj.1_Silent_p.K106K|RIBC1_uc011mog.1_Intron	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA.	106										lung(2)	2						AGCAGCTCAAGAACGGGCGTG	0.512													A	53455349	G	A	53455349	2	1	195	1	0	0	0	0	0	0	0	1	13352	933	33	3		3	RIBC1	23	53455349	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08		53455349	101815211	71	13566											
CT45A5	441521	broad.mit.edu	37	X	134947910	134947910	+	Nonsense_Mutation	SNP	G	G	A	rs146235294	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:134947910G>A	uc004eze.3	-	2	660	c.415C>T	c.(415-417)Cga>Tga	p.R139*	CT45A5_uc022ces.1_Nonsense_Mutation_p.R139*|CT45A5_uc011mvu.2_Nonsense_Mutation_p.R139*	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	139								p.R139Q(2)		endometrium(1)|large_intestine(2)|lung(6)	9						TACTTACTTCGTCCAAGGCAT	0.383													A	134947910	G	A	134947910	4	1	195	1	0	0	0	0	0	1	0	0	3988	1153	40	1	166	1	CT45A5	23	134947910	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	81492561	134947910	20322650	72	13567											
AFF2	2334	broad.mit.edu	37	X	148069012	148069012	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:148069012G>A	uc004fcp.3	+	19	4218	c.3739G>A	c.(3739-3741)Gtc>Atc	p.V1247I	AFF2_uc004fcq.3_Missense_Mutation_p.V1237I|AFF2_uc004fcr.3_Missense_Mutation_p.V1208I|AFF2_uc011mxb.2_Missense_Mutation_p.V1212I|AFF2_uc004fcs.3_Missense_Mutation_p.V1212I|AFF2_uc011mxc.2_Missense_Mutation_p.V888I	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1247					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGCCACGTCAACATCAC	0.498													A	148069012	G	A	148069012	3	1	195	1	0	0	0	0	1	0	0	0	357	1145	40	1	3872	1	AFF2	23	148069012	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	13121102	148069012	7201548	73	13568											
PRAMEF2	65122	broad.mit.edu	37	1	12919829	12919829	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:12919829C>T	uc001aum.1	+	2	656	c.569C>T	c.(568-570)aCg>aTg	p.T190M		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	190								p.T190M(2)|p.T190T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTATCTAACGCCAATTAAA	0.398													T	12919829	C	T	12919829	3	4	196	1	0	0	0	0	1	0	0	0	12435	536	19	1	575	1	PRAMEF2	1	12919829	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		12919829	236330792	1	13569											
ATP13A2	23400	broad.mit.edu	37	1	17318252	17318252	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:17318252C>T	uc001baa.2	-	19	2418	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	ATP13A2_uc001bac.2_Missense_Mutation_p.R738H|ATP13A2_uc001bab.2_Missense_Mutation_p.R738H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	743					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCGCGGATGCGGGTCCTTCG	0.622													T	17318252	C	T	17318252	3	4	196	1	0	0	0	0	1	0	0	0	1124	768	27	1	1590	1	ATP13A2	1	17318252	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	4398423	17318252	231932369	2	13570											
WDR78	79819	broad.mit.edu	37	1	67301450	67301450	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:67301450C>T	uc001dcx.3	-	10	1648	c.1592G>A	c.(1591-1593)cGt>cAt	p.R531H	WDR78_uc009waw.3_Missense_Mutation_p.R277H|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	531										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTGATAAATACGTTCTGGCCA	0.368													T	67301450	C	T	67301450	3	4	196	1	0	0	0	0	1	0	0	0	17325	536	19	1	982	1	WDR78	1	67301450	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	49983198	67301450	181949171	3	13571											
CELSR2	1952	broad.mit.edu	37	1	109795999	109795999	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:109795999G>A	uc001dxa.4	+	0	3359	c.3298G>A	c.(3298-3300)Gtg>Atg	p.V1100M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1100	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATCATGAGCGTGCTGGTGTC	0.637													A	109795999	G	A	109795999	3	1	196	1	0	0	0	0	1	0	0	0	3222	1145	40	1	3300	1	CELSR2	1	109795999	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	42494549	109795999	139454622	4	13572											
HRNR	388697	broad.mit.edu	37	1	152191194	152191194	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:152191194C>G	uc001ezt.1	-	2	2987	c.2911G>C	c.(2911-2913)Gaa>Caa	p.E971Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	971					keratinization		calcium ion binding|protein binding	p.E971K(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGTTCGCTCCTAGAT	0.562													G	152191194	C	G	152191194	3	3	196	1	0	0	0	0	1	0	0	0	7359	893	31	5	5645	5	HRNR	1	152191194	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	42395195	152191194	97059427	5	13573											
CD5L	922	broad.mit.edu	37	1	157804375	157804375	+	Silent	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:157804375T>C	uc001frk.4	-	3	683	c.540A>G	c.(538-540)ggA>ggG	p.G180G		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	180	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTCCCACATCCCAGCTGCC	0.587													C	157804375	T	C	157804375	2	2	196	1	0	0	0	0	0	0	0	1	3027	1422	50	4		4	CD5L	1	157804375	Silent	SNP	T	TCGA-27-2526-01A-01D-1494-08	5613181	157804375	91446246	6	13574											
CEP350	9857	broad.mit.edu	37	1	180063502	180063505	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:180063502_180063505delGACA	uc001gnt.3	+	33	8645_8648	c.8262_8265delGACA	c.(8260-8265)ctgacafs	p.L2754fs	CEP350_uc009wxl.2_Frame_Shift_Del_p.L2753fs|CEP350_uc001gnv.3_Frame_Shift_Del_p.L889fs|CEP350_uc001gnw.1_Frame_Shift_Del_p.L511fs|CEP350_uc001gnx.1_Frame_Shift_Del_p.L511fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2754						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAGCTTACTGACAGACAGTTTAC	0.358													-	180063505	GACA	-	180063502	7	5	196	1	0	1	0	1	0	0	0	0	3254	1277	45	0	8392	0	CEP350	1	180063502	Frame_Shift_Del	DEL	GACA	TCGA-27-2526-01A-01D-1494-08	22259127	180063502	69187119	7	13575											
SLC5A6	8884	broad.mit.edu	37	2	27425742	27425742	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:27425742C>T	uc010eyv.1	-	12	1536	c.1214G>A	c.(1213-1215)gGc>gAc	p.G405D	SLC5A6_uc002rjd.3_Missense_Mutation_p.G405D	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	405					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CAGCCCATAGCCAAAGGCTGG	0.493													T	27425742	C	T	27425742	3	4	196	1	0	0	0	0	1	0	0	0	14669	739	26	3	717	3	SLC5A6	2	27425742	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		27425742	215773631	8	13576											
SLC1A4	6509	broad.mit.edu	37	2	65237852	65237852	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:65237852A>G	uc010yqa.2	+	3	1038	c.755A>G	c.(754-756)aAt>aGt	p.N252S	SLC1A4_uc010ypz.2_Missense_Mutation_p.N32S|SLC1A4_uc002sdh.3_Missense_Mutation_p.N32S	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	252					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CGTTTCTTCAATTCCCTCAAC	0.498													G	65237852	A	G	65237852	3	3	196	1	0	0	0	0	1	0	0	0	14434	101	4	4	769	4	SLC1A4	2	65237852	Missense_Mutation	SNP	A	TCGA-27-2526-01A-01D-1494-08	37812110	65237852	177961521	9	13577											
GPR45	11250	broad.mit.edu	37	2	105858641	105858641	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:105858641T>C	uc002tco.1	+	0	442	c.326T>C	c.(325-327)cTc>cCc	p.L109P		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	109						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TTCTGCCGCCTCTCAGCCACG	0.612													C	105858641	T	C	105858641	3	2	196	1	0	0	0	0	1	0	0	0	6696	1551	54	4	328	4	GPR45	2	105858641	Missense_Mutation	SNP	T	TCGA-27-2526-01A-01D-1494-08	40620789	105858641	137340732	10	13578											
NDUFA10	4705	broad.mit.edu	37	2	240944658	240944658	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:240944658C>T	uc010fzc.2	-	8	1050	c.949G>A	c.(949-951)Gac>Aac	p.D317N	NDUFA10_uc002vyn.3_Missense_Mutation_p.D287N	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	287					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	GTGCGATTGTCCTGCTTGAGC	0.463													T	240944658	C	T	240944658	3	4	196	1	0	0	0	0	1	0	0	0	10260	855	30	3	220	3	NDUFA10	2	240944658	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	135086017	240944658	2254715	11	13579											
DPPA2	151871	broad.mit.edu	37	3	109026881	109026881	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:109026881G>A	uc003dxo.3	-	5	903	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	219						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATCTTACCAGAGGCTTGCAT	0.438													A	109026881	G	A	109026881	3	1	196	1	0	0	0	0	1	0	0	0	4734	942	33	3	252	3	DPPA2	3	109026881	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		109026881	88995549	12	13580											
CD200R1L	344807	broad.mit.edu	37	3	112546470	112546470	+	Silent	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:112546470T>C	uc003dzi.1	-	2	400	c.174A>G	c.(172-174)gcA>gcG	p.A58A	CD200R1L_uc010hqf.1_Silent_p.A37A|CD200R1L_uc011bhw.1_Silent_p.A37A	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	58	Ig-like V-type.					integral to membrane	receptor activity	p.I57V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AATTTCTTAATGCGATAGGAG	0.393													C	112546470	T	C	112546470	2	2	196	1	0	0	0	0	0	0	0	1	2982	1451	51	4		4	CD200R1L	3	112546470	Silent	SNP	T	TCGA-27-2526-01A-01D-1494-08	3519589	112546470	85475960	13	13581											
RNF168	165918	broad.mit.edu	37	3	196230195	196230195	+	Translation_Start_Site	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:196230195C>T	uc003fwq.3	-	0					RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.						double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCATCCAACACGTCTTGAAGC	0.493													T	196230195	C	T	196230195	1	4	196	1	0	0	0	0	0	0	0	0	13459	551	19	1		1	RNF168	3	196230195	Translation_Start_Site	SNP	C	TCGA-27-2526-01A-01D-1494-08	83683725	196230195	1792235	14	13582											
HGFAC	3083	broad.mit.edu	37	4	3451018	3451018	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:3451018G>A	uc003ghc.3	+	13	1843	c.1840G>A	c.(1840-1842)Ggc>Agc	p.G614S	HGFAC_uc010icw.3_Missense_Mutation_p.G621S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	614	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTACCTCTACGGCATCATCAG	0.672													A	3451018	G	A	3451018	3	1	196	1	0	0	0	0	1	0	0	0	7086	1116	39	2	1894	2	HGFAC	4	3451018	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		3451018	187703258	15	13583											
RBM47	54502	broad.mit.edu	37	4	40439840	40439840	+	Silent	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:40439840G>A	uc003gvc.2	-	3	1781	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y	RBM47_uc003gvd.2_Silent_p.Y357Y|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.Y319Y|RBM47_uc003gvg.1_Silent_p.Y357Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	357						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGGGGTAGCCGTAGTAGGCCA	0.642													A	40439840	G	A	40439840	2	1	196	1	0	0	0	0	0	0	0	1	13141	1140	40	1		1	RBM47	4	40439840	Silent	SNP	G	TCGA-27-2526-01A-01D-1494-08	36988822	40439840	150714436	16	13584											
ANK2	287	broad.mit.edu	37	4	114276299	114276299	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:114276299C>G	uc003ibe.4	+	37	6625	c.6525C>G	c.(6523-6525)aaC>aaG	p.N2175K	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.N2190K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2142					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		GTCCTTTCAACACAACATTTC	0.433													G	114276299	C	G	114276299	3	3	196	1	0	0	0	0	1	0	0	0	621	477	17	5	6740	5	ANK2	4	114276299	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	73836459	114276299	76877977	17	13585											
DNAH5	1767	broad.mit.edu	37	5	13876806	13876806	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:13876806T>A	uc003jfd.2	-	21	3425	c.3383A>T	c.(3382-3384)aAc>aTc	p.N1128I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1128	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					TTTGGTGGAGTTGATAATTGT	0.378									Kartagener syndrome				A	13876806	T	A	13876806	3	1	196	1	0	0	0	0	1	0	0	0	4604	1725	60	5	10723	5	DNAH5	5	13876806	Missense_Mutation	SNP	T	TCGA-27-2526-01A-01D-1494-08		13876806	167038454	18	13586											
C6	729	broad.mit.edu	37	5	41186199	41186199	+	Silent	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:41186199C>T	uc003jmk.2	-	5	909	c.699G>A	c.(697-699)ccG>ccA	p.P233P	C6_uc003jml.1_Silent_p.P233P	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	233	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCAGATTGGCCGGAACACGGT	0.443													T	41186199	C	T	41186199	2	4	196	1	0	0	0	0	0	0	0	1	2315	639	23	2		2	C6	5	41186199	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	27309393	41186199	139729061	19	13587											
PCDHB7	56129	broad.mit.edu	37	5	140554315	140554315	+	Silent	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:140554315C>T	uc003lit.3	+	0	2073	c.1899C>T	c.(1897-1899)cgC>cgT	p.R633R		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.687													T	140554315	C	T	140554315	2	4	196	1	0	0	0	0	0	0	0	1	11547	755	27	1		1	PCDHB7	5	140554315	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	99368116	140554315	40360945	20	13588											
SH3TC2	79628	broad.mit.edu	37	5	148407984	148407984	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:148407984G>C	uc003lpu.3	-	10	1463	c.1311C>G	c.(1309-1311)gaC>gaG	p.D437E	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.D81E|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.D430E|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.D322E	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	437							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGATAGCTGTCTGAGGTGG	0.622													C	148407984	G	C	148407984	3	2	196	1	0	0	0	0	1	0	0	0	14262	1368	48	5	2583	5	SH3TC2	5	148407984	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	7853669	148407984	32507276	21	13589											
GABRB2	2561	broad.mit.edu	37	5	160761758	160761758	+	Splice_Site	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:160761758C>T	uc003lys.1	-	8	1050	c.832_splice	c.e8+1	p.G278_splice	GABRB2_uc011deh.1_Splice_Site_p.G117_splice|GABRB2_uc003lyr.1_Splice_Site_p.G278_splice|GABRB2_uc003lyt.1_Splice_Site_p.G278_splice|GABRB2_uc021yhg.1_Splice_Site_p.G215_splice	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	278					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAATGGCCTACCTAATGCCAC	0.443													T	160761758	C	T	160761758	5	4	196	1	0	0	0	0	0	0	1	0	6167	521	18	3	721	3	GABRB2	5	160761758	Splice_Site	SNP	C	TCGA-27-2526-01A-01D-1494-08	12353774	160761758	20153502	22	13590											
GABRA6	2559	broad.mit.edu	37	5	161117359	161117359	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:161117359G>A	uc003lyu.2	+	7	1164	c.826_splice	c.e7+1	p.G276_splice	GABRA6_uc003lyv.2_Splice_Site_p.G47_splice	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	276					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AACTGTTTTTGGTATATGTCA	0.378										TCGA Ovarian(5;0.080)			A	161117359	G	A	161117359	3	1	196	1	0	0	0	0	1	0	0	0	6165	1362	47	3	852	3	GABRA6	5	161117359	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	355601	161117359	19797901	23	13591											
HIST1H1C	3006	broad.mit.edu	37	6	26056237	26056245	+	In_Frame_Del	DEL	CTTCTTGGG	CTTCTTGGG	-	rs149712381	by1000genomes	TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:26056237_26056245delCTTCTTGGG	uc003nfw.3	-	0	455_463	c.412_420delCCCAAGAAG	c.(412-420)cccaagaagdel	p.PKK138del		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	138					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGCCAGCCGCCTTCTTGGGCTTCTTGGCT	0.565													-	26056245	CTTCTTGGG	-	26056237	7	5	196	1	0	1	0	1	0	0	0	0	7124	680	24	0	225	0	HIST1H1C	6	26056237	In_Frame_Del	DEL	CTTCTTGGG	TCGA-27-2526-01A-01D-1494-08		26056237	145058830	24	13592											
TAP2	6891	broad.mit.edu	37	6	32803482	32803482	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:32803482C>T	uc011dqf.1	-	3	799	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	TAP2_uc003ocb.1_Missense_Mutation_p.R226Q|TAP2_uc003occ.3_Missense_Mutation_p.R226Q|TAP2_uc003ocd.3_Missense_Mutation_p.R226Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	226	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AAGCTGCTCCCGGATCCGCAA	0.582													T	32803482	C	T	32803482	3	4	196	1	0	0	0	0	1	0	0	0	15548	652	23	2	1504	2	TAP2	6	32803482	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	6747245	32803482	138311585	25	13593											
DNAH8	1769	broad.mit.edu	37	6	38750809	38750809	+	Silent	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:38750809C>T	uc021yzh.1	+	16	2398	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	DNAH8_uc003ooe.2_Silent_p.D546D	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						CAAGTCCGGACGGTAAAGCTG	0.378													T	38750809	C	T	38750809	2	4	196	1	0	0	0	0	0	0	0	1	4607	535	19	1		1	DNAH8	6	38750809	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	5947327	38750809	132364258	26	13594											
MANEA	79694	broad.mit.edu	37	6	96053740	96053740	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:96053740C>T	uc003poo.2	+	4	1028	c.848C>T	c.(847-849)aCc>aTc	p.T283I		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	283	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AATCTGTTAACCACCTCAGGG	0.398													T	96053740	C	T	96053740	3	4	196	1	0	0	0	0	1	0	0	0	9221	507	18	3	862	3	MANEA	6	96053740	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	57302931	96053740	75061327	27	13595											
SIM1	6492	broad.mit.edu	37	6	100841630	100841630	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:100841630C>T	uc003pqj.4	-	9	1770	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	SIM1_uc021zdg.1_Missense_Mutation_p.A435T|SIM1_uc010kcu.3_Missense_Mutation_p.A435T	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	435	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGTCTGTAGGCGCACGATGCG	0.617													T	100841630	C	T	100841630	3	4	196	1	0	0	0	0	1	0	0	0	14323	768	27	1	1005	1	SIM1	6	100841630	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	4787890	100841630	70273437	28	13596											
CALCR	799	broad.mit.edu	37	7	93108720	93108720	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:93108720C>T	uc003umv.2	-	4	505	c.205G>A	c.(205-207)Gca>Aca	p.A69T	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A51T|CALCR_uc003umw.2_Missense_Mutation_p.A51T	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	51					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTGTACTGTGCATCCATCATC	0.418													T	93108720	C	T	93108720	3	4	196	1	0	0	0	0	1	0	0	0	2579	710	25	3	1369	3	CALCR	7	93108720	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		93108720	66029943	29	13597											
TMEM130	222865	broad.mit.edu	37	7	98457803	98457803	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:98457803C>T	uc003upo.3	-	3	740	c.551_splice	c.e3+1	p.G184_splice	TMEM130_uc011kiq.2_Splice_Site_p.G165_splice|TMEM130_uc011kir.2_Splice_Site_p.G184_splice|TMEM130_uc003upn.3_Splice_Site_p.G82_splice	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	184	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGACCTACCCGTCCCCGAAG	0.557													T	98457803	C	T	98457803	3	4	196	1	0	0	0	0	1	0	0	0	16040	666	23	2	781	2	TMEM130	7	98457803	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	5349083	98457803	60680860	30	13598											
LAMB4	22798	broad.mit.edu	37	7	107745023	107745023	+	Silent	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:107745023C>T	uc010ljo.1	-	8	996	c.912G>A	c.(910-912)ccG>ccA	p.P304P	LAMB4_uc003vey.2_Silent_p.P304P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	304	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTCACAGTTCGGACCATCTG	0.522													T	107745023	C	T	107745023	2	4	196	1	0	0	0	0	0	0	0	1	8613	871	31	2		2	LAMB4	7	107745023	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	9287220	107745023	51393640	31	13599											
UBE3C	9690	broad.mit.edu	37	7	157041080	157041081	+	In_Frame_Ins	INS	-	-	TGG			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:157041080_157041081insTGG	uc010lqs.3	+	18	2812_2813	c.2500_2501insTGG	c.(2500-2502)ctg>cTGGtg	p.835_836insV	UBE3C_uc003wni.4_In_Frame_Ins_p.198_199insV	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	835	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.E836E(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)		TGAGAACATGCTGGTGGAGCTG	0.47													TGG	157041081	-	TGG	157041080	7	5	196	1	0	1	1	0	0	0	0	0	16878	796	28	0	2574	0	UBE3C	7	157041080	In_Frame_Ins	INS	-	TCGA-27-2526-01A-01D-1494-08	49296057	157041080	2097583	32	13600											
RP1L1	94137	broad.mit.edu	37	8	10467799	10467799	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr8:10467799G>A	uc003wtc.3	-	3	4038	c.3809C>T	c.(3808-3810)gCc>gTc	p.A1270V		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1270					intracellular signal transduction					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)		CTCATTGGTGGCACAAGCGCA	0.517													A	10467799	G	A	10467799	3	1	196	1	0	0	0	0	1	0	0	0	13533	1203	42	3	3397	3	RP1L1	8	10467799	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		10467799	135896223	33	13601											
CSMD3	114788	broad.mit.edu	37	8	113420591	113420591	+	Nonsense_Mutation	SNP	G	G	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr8:113420591G>T	uc003ynu.3	-	33	5720	c.5561C>A	c.(5560-5562)tCa>tAa	p.S1854*	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Nonsense_Mutation_p.S1814*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.S1750*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1854	CUB 10.					integral to membrane|plasma membrane		p.T1853N(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						TGGTCCAACTGAAGTAAATCG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113420591	G	T	113420591	4	4	196	1	0	0	0	0	0	1	0	0	3946	1294	45	5	5714	5	CSMD3	8	113420591	Nonsense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	102952792	113420591	32943431	34	13602											
MAT1A	4143	broad.mit.edu	37	10	82034790	82034790	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr10:82034790G>A	uc001kbw.3	-	6	1189	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	312					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCACTCTCCGGCAGAGCCCT	0.632													A	82034790	G	A	82034790	3	1	196	1	0	0	0	0	1	0	0	0	9329	1115	39	2	265	2	MAT1A	10	82034790	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		82034790	53499957	35	13603											
PTEN	5728	broad.mit.edu	37	10	89692923	89692923	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr10:89692923G>A	uc001kfb.3	+	4	1439	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C136Y(16)|p.C136F(10)|p.C136R(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*44(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTAATGATATGTGCATATTTA	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692923	G	A	89692923	3	1	196	1	0	0	0	0	1	0	0	0	12738	1377	48	3	425	3	PTEN	10	89692923	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	7658133	89692923	45841824	36	13604											
OR9G4	283189	broad.mit.edu	37	11	56510803	56510803	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr11:56510803C>A	uc010rjo.2	-	0	485	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G162G(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TATGTAGGAGCCAGCAACAAG	0.463													A	56510803	C	A	56510803	3	1	196	1	0	0	0	0	1	0	0	0	11251	739	26	5	501	5	OR9G4	11	56510803	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		56510803	78495713	37	13605											
TECTA	7007	broad.mit.edu	37	11	121028677	121028677	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr11:121028677G>A	uc010rzo.2	+	12	4433	c.4433G>A	c.(4432-4434)gGc>gAc	p.G1478D		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1478					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGTGCGCGGCTGCTTCAGC	0.682													A	121028677	G	A	121028677	3	1	196	1	0	0	0	0	1	0	0	0	15744	1203	42	3	4483	3	TECTA	11	121028677	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	64517874	121028677	13977839	38	13606											
LRIG3	121227	broad.mit.edu	37	12	59270251	59270251	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:59270251A>G	uc001sqr.3	-	15	2917	c.2671T>C	c.(2671-2673)Ttc>Ctc	p.F891L	LRIG3_uc009zqh.3_Missense_Mutation_p.F831L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	891						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTGGTAAGAAAAATCCAGCA	0.418			T	ROS1	NSCLC								G	59270251	A	G	59270251	3	3	196	1	0	0	0	0	1	0	0	0	8946	14	1	4	704	4	LRIG3	12	59270251	Missense_Mutation	SNP	A	TCGA-27-2526-01A-01D-1494-08		59270251	74581644	39	13607											
LRIG3	121227	broad.mit.edu	37	12	59271192	59271192	+	Silent	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:59271192A>G	uc001sqr.3	-	14	2772	c.2526T>C	c.(2524-2526)atT>atC	p.I842I	LRIG3_uc009zqh.3_Silent_p.I782I|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	842						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGTGTTGGTAATGCTGCAAT	0.493			T	ROS1	NSCLC								G	59271192	A	G	59271192	2	3	196	1	0	0	0	0	0	0	0	1	8946	358	13	4		4	LRIG3	12	59271192	Silent	SNP	A	TCGA-27-2526-01A-01D-1494-08	941	59271192	74580703	40	13608											
PLBD2	196463	broad.mit.edu	37	12	113825637	113825637	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:113825637G>A	uc001tve.2	+	10	1563	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	PLBD2_uc001tvf.2_Missense_Mutation_p.D478N	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	510					lipid catabolic process	lysosomal lumen	hydrolase activity	p.S509S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGCCCGCTCCGACCTCAACCC	0.617													A	113825637	G	A	113825637	3	1	196	1	0	0	0	0	1	0	0	0	12026	1058	37	2	1570	2	PLBD2	12	113825637	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	54554445	113825637	20026258	41	13609											
ZMYM2	7750	broad.mit.edu	37	13	20625722	20625722	+	Silent	SNP	T	T	C			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr13:20625722T>C	uc001umr.3	+	13	2740	c.2442T>C	c.(2440-2442)ccT>ccC	p.P814P	ZMYM2_uc001ums.3_Silent_p.P814P|ZMYM2_uc021rgy.1_Silent_p.P814P|ZMYM2_uc001umt.3_Silent_p.P814P|ZMYM2_uc010tco.1_Non-coding_Transcript|ZMYM2_uc001umv.3_Silent_p.P194P|ZMYM2_uc001umw.3_Silent_p.P267P	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGAAAGGACCTGAAAACTTAC	0.368													C	20625722	T	C	20625722	2	2	196	1	0	0	0	0	0	0	0	1	17697	1567	55	4		4	ZMYM2	13	20625722	Silent	SNP	T	TCGA-27-2526-01A-01D-1494-08		20625722	94544156	42	13610											
GALC	2581	broad.mit.edu	37	14	88416243	88416243	+	Silent	SNP	G	G	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr14:88416243G>T	uc001xvt.3	-	11	1391	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.T405T|GALC_uc010tvx.2_Silent_p.T402T|GALC_uc010tvz.1_Silent_p.T372T	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	428					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCCAAGTTTGGTATACCATA	0.333													T	88416243	G	T	88416243	2	4	196	1	0	0	0	0	0	0	0	1	6201	1335	47	5		5	GALC	14	88416243	Silent	SNP	G	TCGA-27-2526-01A-01D-1494-08		88416243	18933297	43	13611											
CKMT1B	1159	broad.mit.edu	37	15	43891425	43891425	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:43891425G>A	uc001zsc.3	+	9	1600	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	CKMT1B_uc010uds.2_Missense_Mutation_p.G434D|CKMT1B_uc010bdj.3_Non-coding_Transcript	NM_020990	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	403					creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CTGGAGAGAGGCCAGGATATC	0.493													A	43891425	G	A	43891425	3	1	196	1	0	0	0	0	1	0	0	0	3450	1203	42	3	1242	3	CKMT1B	15	43891425	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		43891425	58639967	44	13612											
FBN1	2200	broad.mit.edu	37	15	48760692	48760692	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:48760692C>T	uc001zwx.2	-	36	4894	c.4499G>A	c.(4498-4500)gGg>gAg	p.G1500E	FBN1_uc010beo.2_5'Flank	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1500	EGF-like 26; calcium-binding.				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			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)		GACACAGTTCCCACTGATGCA	0.473													T	48760692	C	T	48760692	3	4	196	1	0	0	0	0	1	0	0	0	5702	623	22	3	4236	3	FBN1	15	48760692	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	4869267	48760692	53770700	45	13613											
IGF1R	3480	broad.mit.edu	37	15	99251008	99251008	+	Silent	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:99251008G>A	uc002bul.3	+	1	362	c.312G>A	c.(310-312)acG>acA	p.T104T	IGF1R_uc010urq.2_Silent_p.T104T|IGF1R_uc010bon.3_Silent_p.T104T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	104					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAACCTCACGGTCATCCGCG	0.547													A	99251008	G	A	99251008	2	1	196	1	0	0	0	0	0	0	0	1	7571	1103	39	2		2	IGF1R	15	99251008	Silent	SNP	G	TCGA-27-2526-01A-01D-1494-08	50490316	99251008	3280384	46	13614											
RLTPR	146206	broad.mit.edu	37	16	67681065	67681065	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr16:67681065C>T	uc002etn.3	+	8	778	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	RLTPR_uc010cel.1_Missense_Mutation_p.R220W|RLTPR_uc010vjr.2_Missense_Mutation_p.R220W	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	220										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTGTGGTTCCGGTGCCTCTC	0.672													T	67681065	C	T	67681065	3	4	196	1	0	0	0	0	1	0	0	0	13394	643	23	2	692	2	RLTPR	16	67681065	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		67681065	22673688	47	13615											
MUC16	94025	broad.mit.edu	37	19	9021119	9021119	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:9021119C>T	uc002mkp.3	-	18	37408	c.37204G>A	c.(37204-37206)Ggg>Agg	p.G12402R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12404	SEA 3.				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						ATGTCCTCCCCATACTGCAGG	0.547													T	9021119	C	T	9021119	3	4	196	1	0	0	0	0	1	0	0	0	9973	594	21	3	6583	3	MUC16	19	9021119	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		9021119	50107864	48	13616											
NWD1	284434	broad.mit.edu	37	19	16874718	16874718	+	Missense_Mutation	SNP	A	A	G	rs111332125		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:16874718A>G	uc002neu.4	+	8	2635	c.2213A>G	c.(2212-2214)cAc>cGc	p.H738R	NWD1_uc002net.4_Missense_Mutation_p.H603R|NWD1_uc002nev.4_Missense_Mutation_p.H532R|NWD1_uc021uqg.1_Missense_Mutation_p.H603R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	738							ATP binding	p.T737T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCTGCTTCACTCGGGCCGC	0.612													G	16874718	A	G	16874718	3	3	196	1	0	0	0	0	1	0	0	0	10781	159	6	4	1826	4	NWD1	19	16874718	Missense_Mutation	SNP	A	TCGA-27-2526-01A-01D-1494-08	7853599	16874718	42254265	49	13617											
SYCP2	10388	broad.mit.edu	37	20	58471554	58471554	+	Silent	SNP	A	A	G			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr20:58471554A>G	uc002yaz.3	-	17	1573	c.1434T>C	c.(1432-1434)tcT>tcC	p.S478S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	478					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGATGCTTCAGACATTTTTC	0.313													G	58471554	A	G	58471554	2	3	196	1	0	0	0	0	0	0	0	1	15429	175	7	4		4	SYCP2	20	58471554	Silent	SNP	A	TCGA-27-2526-01A-01D-1494-08		58471554	4553966	50	13618											
PITPNB	23760	broad.mit.edu	37	22	28310333	28310333	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr22:28310333C>T	uc011akh.2	-	1	101	c.29G>A	c.(28-30)cGt>cAt	p.R10H	PITPNB_uc003adk.3_Missense_Mutation_p.R8H|PITPNB_uc003adl.3_Missense_Mutation_p.R8H	NM_012399	NP_036531	P48739	PIPNB_HUMAN	Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.	8					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						CAAAACCACACGGCTAAAAAG	0.318													T	28310333	C	T	28310333	3	4	196	1	0	0	0	0	1	0	0	0	11948	536	19	1	832	1	PITPNB	22	28310333	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		28310333	22994233	51	13619											
ELK1	2002	broad.mit.edu	37	X	47509844	47509844	+	Translation_Start_Site	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chrX:47509844G>A	uc004dik.4	-	0					ELK1_uc010nhv.3_5'UTR|ELK1_uc010nhw.3_5'UTR|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGGCGGTGGCGTTGGCAATGT	0.726													A	47509844	G	A	47509844	1	1	196	1	0	0	0	0	0	0	0	0	5059	1160	40	1		1	ELK1	23	47509844	Translation_Start_Site	SNP	G	TCGA-27-2526-01A-01D-1494-08		47509844	107760716	52	13620											
PNMA3	29944	broad.mit.edu	37	X	152226004	152226004	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chrX:152226004G>A	uc022cho.1	+	0	592	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PNMA3_uc004fhc.2_Missense_Mutation_p.E198K|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	198					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaggtgcccgagggggaaaa	0.577													A	152226004	G	A	152226004	3	1	196	1	0	0	0	0	1	0	0	0	12155	1059	37	2	594	2	PNMA3	23	152226004	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	104716160	152226004	3044556	53	13621											
TAS1R2	80834	broad.mit.edu	37	1	19181421	19181421	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:19181421C>T	uc001bba.1	-	2	544	c.543G>A	c.(541-543)ctG>ctA	p.L181L		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	181					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			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)	GTGTGGTACGCAGCAAAGCCG	0.622													T	19181421	C	T	19181421	2	4	197	1	0	0	0	0	0	0	0	1	15560	697	25	3		3	TAS1R2	1	19181421	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08		19181421	230069200	1	13622											
COL16A1	1307	broad.mit.edu	37	1	32126216	32126216	+	Silent	SNP	G	G	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:32126216G>T	uc001btk.1	-	61	4214	c.3849C>A	c.(3847-3849)ccC>ccA	p.P1283P	COL16A1_uc001btj.1_Silent_p.P1081P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1283	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTCTTCCCTGGGGTCCCATGG	0.547													T	32126216	G	T	32126216	2	4	197	1	0	0	0	0	0	0	0	1	3673	1219	43	5		5	COL16A1	1	32126216	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	12944795	32126216	217124405	2	13623											
DAB1	1600	broad.mit.edu	37	1	57491656	57491656	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:57491656G>A	uc009vzx.1	-	9	1104	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	DAB1_uc001cyt.1_Missense_Mutation_p.P260S|DAB1_uc001cyq.1_Missense_Mutation_p.P260S|DAB1_uc001cyr.1_Missense_Mutation_p.P176S|DAB1_uc009vzw.1_Missense_Mutation_p.P244S|DAB1_uc001cys.1_Missense_Mutation_p.P262S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	295					cell differentiation|nervous system development					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						ATACTTACGGGGGGAGAGGTT	0.463													A	57491656	G	A	57491656	3	1	197	1	0	0	0	0	1	0	0	0	4217	1232	43	3	903	3	DAB1	1	57491656	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	25365440	57491656	191758965	3	13624											
HFM1	164045	broad.mit.edu	37	1	91846537	91846537	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:91846537C>T	uc001doa.4	-	6	904	c.805G>A	c.(805-807)Gca>Aca	p.A269T	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.A269T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	269							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.P268L(2)|p.A269T(2)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTAAATTTTGCCGCTTACAAT	0.219													T	91846537	C	T	91846537	3	4	197	1	0	0	0	0	1	0	0	0	7083	739	26	3	3634	3	HFM1	1	91846537	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	34354881	91846537	157404084	4	13625											
CCDC18	343099	broad.mit.edu	37	1	93649564	93649564	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:93649564C>T	uc021opx.1	+	2	325	c.164C>T	c.(163-165)gCc>gTc	p.A55V		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	55										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTGATTATGCCCCTAATCCT	0.323													T	93649564	C	T	93649564	3	4	197	1	0	0	0	0	1	0	0	0	2794	739	26	3	528	3	CCDC18	1	93649564	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	1803027	93649564	155601057	5	13626											
PHGDH	26227	broad.mit.edu	37	1	120285535	120285535	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:120285535C>G	uc001ehz.3	+	10	1542	c.1315C>G	c.(1315-1317)Caa>Gaa	p.Q439E	PHGDH_uc009whm.3_Missense_Mutation_p.Q337E|PHGDH_uc001eib.3_Missense_Mutation_p.Q405E	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	439					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GGGCTTGGTCCAAGGCACTAC	0.657													G	120285535	C	G	120285535	3	3	197	1	0	0	0	0	1	0	0	0	11841	595	21	5	1357	5	PHGDH	1	120285535	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	26635971	120285535	128965086	6	13627											
THBS3	7059	broad.mit.edu	37	1	155170717	155170719	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:155170717_155170719delCAT	uc001fix.3	-	12	1622_1624	c.1517_1519delATG	c.(1516-1521)gatgct>gct	p.D506del	THBS3_uc021pat.1_5'UTR|THBS3_uc010pfu.2_In_Frame_Del_p.D386del|THBS3_uc009wqi.3_In_Frame_Del_p.D497del|THBS3_uc001fiy.3_In_Frame_Del_p.D35del|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	506					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCCATCAGCATCATCATCACA	0.542													-	155170719	CAT	-	155170717	7	5	197	1	0	1	0	1	0	0	0	0	15852	710	25	0	1395	0	THBS3	1	155170717	In_Frame_Del	DEL	CAT	TCGA-27-2527-01A-01D-1494-08	34885182	155170717	94079904	7	13628											
GON4L	55249	broad.mit.edu	37	1	155629578	155629578	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:155629578C>G	uc010pgi.2	-	9	2729	c.2537G>C	c.(2536-2538)gGa>gCa	p.G846A	GON4L_uc021paz.1_Missense_Mutation_p.G688A|GON4L_uc010pgg.2_Missense_Mutation_p.G593A|GON4L_uc010pgh.2_Missense_Mutation_p.G697A|GON4L_uc009wqt.3_Missense_Mutation_p.G677A|GON4L_uc001flh.3_Missense_Mutation_p.G826A|GON4L_uc001fll.3_Missense_Mutation_p.G708A|GON4L_uc001flk.3_Missense_Mutation_p.G697A|GON4L_uc001flm.3_Missense_Mutation_p.G697A|GON4L_uc009wqu.3_Missense_Mutation_p.G541A|GON4L_uc009wqv.3_Missense_Mutation_p.G425A|GON4L_uc009wqw.3_Missense_Mutation_p.G677A|GON4L_uc001flj.3_Missense_Mutation_p.G688A|GON4L_uc001fli.3_Missense_Mutation_p.G708A|GON4L_uc001flo.3_Missense_Mutation_p.G642A|GON4L_uc001fln.3_Missense_Mutation_p.G754A|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.G708A	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1298					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCTTGCCTTCCCTCCTCTGT	0.527													G	155629578	C	G	155629578	3	3	197	1	0	0	0	0	1	0	0	0	6572	855	30	5		5	GON4L	1	155629578	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	458861	155629578	93621043	8	13629											
CFHR1	10878	broad.mit.edu	37	1	196749091	196749091	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:196749091T>C	uc001gtl.3	+	2	505	c.418T>C	c.(418-420)Tgc>Cgc	p.C140R	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.C140R|CFHR1_uc010poy.2_Missense_Mutation_p.C140R|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	140	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TACTCCCAGATGCATCCGTGT	0.493													C	196749091	T	C	196749091	3	2	197	1	0	0	0	0	1	0	0	0	3284	1464	51	4		4	CFHR1	1	196749091	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	41119513	196749091	52501530	9	13630	16	2									
CFHR1	10878	broad.mit.edu	37	1	196749101	196749101	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:196749101T>A	uc001gtl.3	+	2	515	c.428T>A	c.(427-429)gTc>gAc	p.V143D	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.V143D|CFHR1_uc010poy.2_Missense_Mutation_p.V143D|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	143					complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGCATCCGTGTCAGTAAGTAC	0.478													A	196749101	T	A	196749101	3	1	197	1	0	0	0	0	1	0	0	0	3284	1667	58	5		5	CFHR1	1	196749101	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	10	196749101	52501520	10	13631	16	2									
OR2G2	81470	broad.mit.edu	37	1	247752159	247752159	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:247752159C>T	uc010pyy.2	+	0	498	c.498C>T	c.(496-498)acC>acT	p.T166T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T166T(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			CCACCCTCACCCTGCAGCTGC	0.542													T	247752159	C	T	247752159	2	4	197	1	0	0	0	0	0	0	0	1	10998	610	22	3		3	OR2G2	1	247752159	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	51003058	247752159	1498462	11	13632											
NRXN1	9378	broad.mit.edu	37	2	50850508	50850508	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:50850508C>T	uc021vhh.1	-	4	1999	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	NRXN1_uc002rxb.4_Missense_Mutation_p.G40R|NRXN1_uc021vhg.1_Missense_Mutation_p.G393R|NRXN1_uc021vhi.1_Missense_Mutation_p.G389R|NRXN1_uc021vhj.1_Missense_Mutation_p.G356R|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	360	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G393*(1)|p.G394*(1)|p.G360*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAAACTTTCCATTCACAGGC	0.458													T	50850508	C	T	50850508	3	4	197	1	0	0	0	0	1	0	0	0	10665	603	21	3	3801	3	NRXN1	2	50850508	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		50850508	192348865	12	13633											
PROM2	150696	broad.mit.edu	37	2	95947910	95947910	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:95947910C>T	uc002suk.3	+	13	1797	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	PROM2_uc002suh.2_Missense_Mutation_p.A555V|PROM2_uc002sui.3_Missense_Mutation_p.A555V|PROM2_uc002suj.3_Missense_Mutation_p.A209V|PROM2_uc002sul.3_Missense_Mutation_p.A81V|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	555						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAAGGGGCAGCGCTCTGGACA	0.627													T	95947910	C	T	95947910	3	4	197	1	0	0	0	0	1	0	0	0	12556	768	27	1	1718	1	PROM2	2	95947910	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	45097402	95947910	147251463	13	13634											
MCM6	4175	broad.mit.edu	37	2	136630337	136630337	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:136630337C>G	uc002tuw.3	-	1	260	c.184G>C	c.(184-186)Gtt>Ctt	p.V62L		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	62					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AAACTCACAACCAATGTGTTT	0.403													G	136630337	C	G	136630337	3	3	197	1	0	0	0	0	1	0	0	0	9391	507	18	5	2345	5	MCM6	2	136630337	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	40682427	136630337	106569036	14	13635											
TTN	7273	broad.mit.edu	37	2	179458739	179458739	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:179458739C>T	uc021vsy.1	-	245	50902	c.50677G>A	c.(50677-50679)Gtg>Atg	p.V16893M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10588M|TTN_uc021vta.1_Missense_Mutation_p.V10521M|TTN_uc021vtb.1_Missense_Mutation_p.V10396M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17820	Fibronectin type-III 22.						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)			CTGTTCTCCACAACCACACAG	0.403													T	179458739	C	T	179458739	3	4	197	1	0	0	0	0	1	0	0	0	16732	478	17	3	49862	3	TTN	2	179458739	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	42828402	179458739	63740634	15	13636											
ALS2CR12	130540	broad.mit.edu	37	2	202216040	202216040	+	Missense_Mutation	SNP	G	G	A	rs143899839		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:202216040G>A	uc010ftg.3	-	1	532	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	ALS2CR12_uc002uya.4_Missense_Mutation_p.R30C|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	30					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GAGTTCTTGCGTGGTAGTTGA	0.517													A	202216040	G	A	202216040	3	1	197	1	0	0	0	0	1	0	0	0	553	1145	40	1	1305	1	ALS2CR12	2	202216040	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	22757301	202216040	40983333	16	13637											
THAP4	51078	broad.mit.edu	37	2	242573479	242573479	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:242573479G>A	uc002wbt.3	-	1	386	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	31							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GACGTTTTGAGTCCTTTAGGG	0.353													A	242573479	G	A	242573479	2	1	197	1	0	0	0	0	0	0	0	1	15843	1020	36	3		3	THAP4	2	242573479	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	40357439	242573479	625894	17	13638											
FANCD2	2177	broad.mit.edu	37	3	10108908	10108908	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:10108908T>C	uc003buw.3	+	25	2479	c.2401T>C	c.(2401-2403)Tgc>Cgc	p.C801R	FANCD2_uc003bux.1_Missense_Mutation_p.C801R|FANCD2_uc003buy.1_Missense_Mutation_p.C801R|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	801					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAATGCCTTCTGCCAGGAAAC	0.378			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C	10108908	T	C	10108908	3	2	197	1	0	0	0	0	1	0	0	0	5665	1580	55	4	2499	4	FANCD2	3	10108908	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		10108908	187913522	18	13639											
IRAK2	3656	broad.mit.edu	37	3	10254939	10254939	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:10254939G>A	uc003bve.1	+	4	653	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	193					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGCTTGGCTGGAGACAGCCT	0.493													A	10254939	G	A	10254939	3	1	197	1	0	0	0	0	1	0	0	0	7823	1349	47	3	595	3	IRAK2	3	10254939	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	146031	10254939	187767491	19	13640											
FGD5	152273	broad.mit.edu	37	3	14862951	14862951	+	Silent	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:14862951C>A	uc003bzc.3	+	0	2483	c.2373C>A	c.(2371-2373)ccC>ccA	p.P791P	FGD5_uc011avk.2_Silent_p.P791P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	791					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A791A(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGATTCCACCCCGGAGACCTG	0.537													A	14862951	C	A	14862951	2	1	197	1	0	0	0	0	0	0	0	1	5836	610	22	5		5	FGD5	3	14862951	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	4608012	14862951	183159479	20	13641											
XIRP1	165904	broad.mit.edu	37	3	39229284	39229284	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:39229284C>T	uc003cjk.2	-	1	1882	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	XIRP1_uc003cji.3_Silent_p.R551R|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.R551R	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	551	Interaction with CTNNB1 (By similarity).		R -> Q (in dbSNP:rs34121641).				actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAAAAAGCCACCGAGCTGTGC	0.632													T	39229284	C	T	39229284	2	4	197	1	0	0	0	0	0	0	0	1	17426	494	18	3		3	XIRP1	3	39229284	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	24366333	39229284	158793146	21	13642											
IMPDH2	3615	broad.mit.edu	37	3	49062153	49062153	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:49062153G>A	uc003cvt.3	-	11	1470	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	460					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCAGCAATCAGGTAAGGGACA	0.552													A	49062153	G	A	49062153	2	1	197	1	0	0	0	0	0	0	0	1	7727	991	35	3		3	IMPDH2	3	49062153	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	9832869	49062153	148960277	22	13643											
PBRM1	55193	broad.mit.edu	37	3	52595840	52595840	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:52595840G>A	uc003des.2	-	24	4243	c.4231C>T	c.(4231-4233)Cgc>Tgc	p.R1411C	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.R1411C|PBRM1_uc003der.2_Missense_Mutation_p.R1379C|PBRM1_uc003det.2_Missense_Mutation_p.R1426C|PBRM1_uc003deu.2_Missense_Mutation_p.R1426C|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.R1411C|PBRM1_uc010hmk.1_Missense_Mutation_p.R1386C|PBRM1_uc003dey.2_Missense_Mutation_p.R1359C|PBRM1_uc003dez.1_Missense_Mutation_p.R1410C	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1411					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCCACCAGGCGGCTGAGCTCC	0.498			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								A	52595840	G	A	52595840	3	1	197	1	0	0	0	0	1	0	0	0	11491	1116	39	2	693	2	PBRM1	3	52595840	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	3533687	52595840	145426590	23	13644											
ATXN7	6314	broad.mit.edu	37	3	63981678	63981678	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:63981678delC	uc003dlv.3	+	11	2733	c.2180delC	c.(2179-2181)tctfs	p.S727fs	ATXN7_uc003dlw.4_Frame_Shift_Del_p.S727fs|ATXN7_uc021wzy.1_Frame_Shift_Del_p.S727fs|ATXN7_uc011bfn.2_Frame_Shift_Del_p.S582fs	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	727	Poly-Ser.|Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		tcctcctcttcttcTCATTCC	0.512													-	63981678	C	-	63981678	7	5	197	1	0	1	0	1	0	0	0	0	1215	913	32	0	2286	0	ATXN7	3	63981678	Frame_Shift_Del	DEL	C	TCGA-27-2527-01A-01D-1494-08	11385838	63981678	134040752	24	13645											
FNDC3B	64778	broad.mit.edu	37	3	172065012	172065012	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:172065012G>C	uc003fhy.3	+	20	2547	c.2375G>C	c.(2374-2376)aGt>aCt	p.S792T	FNDC3B_uc003fhz.4_Missense_Mutation_p.S792T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	792	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				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)		AGTCCTGATAGTTCTGGTGCT	0.398													C	172065012	G	C	172065012	3	2	197	1	0	0	0	0	1	0	0	0	5970	1029	36	5	2453	5	FNDC3B	3	172065012	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	108083334	172065012	25957418	25	13646											
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	197	1	0	0	0	0	1	0	0	0	11913	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08	6887073	178952085	19070345	26	13647											
IL1RAP	3556	broad.mit.edu	37	3	190345166	190345166	+	Missense_Mutation	SNP	G	G	A	rs138101360		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:190345166G>A	uc010hzg.2	+	8	1251	c.830G>A	c.(829-831)cGc>cAc	p.R277H	IL1RAP_uc003fsk.3_Missense_Mutation_p.R277H|IL1RAP_uc003fsl.3_Missense_Mutation_p.R277H|IL1RAP_uc003fsm.2_Missense_Mutation_p.R277H|IL1RAP_uc003fso.2_Missense_Mutation_p.R277H|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Missense_Mutation_p.R277H	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	277	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATGGATTCTCGCAATGAGGTT	0.378													A	190345166	G	A	190345166	3	1	197	1	0	0	0	0	1	0	0	0	7660	1087	38	1	852	1	IL1RAP	3	190345166	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	11393081	190345166	7677264	27	13648											
UGT2B11	10720	broad.mit.edu	37	4	70079956	70079956	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr4:70079956G>A	uc003heh.3	-	0	494	c.485C>T	c.(484-486)gCg>gTg	p.A162V	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	162					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A162V(2)|p.A162A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTTAAGTAGCGCAGCCAGCAG	0.423													A	70079956	G	A	70079956	3	1	197	1	0	0	0	0	1	0	0	0	16954	1087	38	1	1128	1	UGT2B11	4	70079956	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08		70079956	121074320	28	13649											
ADAM29	11086	broad.mit.edu	37	4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr4:175897289G>A	uc003iuc.3	+	4	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_uc003iud.3_Missense_Mutation_p.V205I|ADAM29_uc010irr.3_Missense_Mutation_p.V205I|ADAM29_uc011cki.2_Missense_Mutation_p.V205I|ADAM29_uc021xuo.1_Missense_Mutation_p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	205	Peptidase M12B.		V -> I (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V205I(4)|p.V204V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348													A	175897289	G	A	175897289	3	1	197	1	0	0	0	0	1	0	0	0	247	1145	40	1	615	1	ADAM29	4	175897289	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	105817333	175897289	15256987	29	13650											
TMEM174	134288	broad.mit.edu	37	5	72469396	72469396	+	Missense_Mutation	SNP	C	C	T	rs34059261	byFrequency	TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr5:72469396C>T	uc010izc.3	+	0	374	c.326C>T	c.(325-327)cCg>cTg	p.P109L		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	109						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAAAGGGTCCCGGACTCGGAA	0.527													T	72469396	C	T	72469396	3	4	197	1	0	0	0	0	1	0	0	0	16087	652	23	2	328	2	TMEM174	5	72469396	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		72469396	108445864	30	13651											
EGR1	1958	broad.mit.edu	37	5	137803019	137803019	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr5:137803019C>A	uc003ldb.1	+	1	1151	c.881C>A	c.(880-882)gCc>gAc	p.A294D		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	294					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTATTAAGGCCTTTGCCACT	0.627													A	137803019	C	A	137803019	3	1	197	1	0	0	0	0	1	0	0	0	4971	739	26	5	887	5	EGR1	5	137803019	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	65333623	137803019	43112241	31	13652											
DSP	1832	broad.mit.edu	37	6	7583937	7583937	+	Missense_Mutation	SNP	G	G	A	rs144539278		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:7583937G>A	uc003mxp.1	+	23	6721	c.6442G>A	c.(6442-6444)Gcc>Acc	p.A2148T	DSP_uc003mxq.1_Missense_Mutation_p.A1549T|DSP_uc021yle.1_Missense_Mutation_p.A1705T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2148	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAAGATGTCGCCTTGGCCCG	0.478													A	7583937	G	A	7583937	3	1	197	1	0	0	0	0	1	0	0	0	4781	1087	38	1	6536	1	DSP	6	7583937	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08		7583937	163531130	32	13653											
HIST1H2AM	8336	broad.mit.edu	37	6	27860752	27860752	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:27860752A>T	uc003nkb.1	-	0	212	c.176T>A	c.(175-177)cTa>cAa	p.L59Q	HIST1H3J_uc003nka.3_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2am (HIST1H2AM), mRNA.	59					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.Y58H(1)|p.Y58N(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CTCGGCAGTTAGGTACTCCAG	0.662													T	27860752	A	T	27860752	3	4	197	1	0	0	0	0	1	0	0	0	7139	420	15	5	220	5	HIST1H2AM	6	27860752	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08	20276815	27860752	143254315	33	13654											
NEU1	4758	broad.mit.edu	37	6	31830506	31830506	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:31830506C>T	uc003nxq.4	-	0	204	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	16						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GAATCCGCGGCCCCCAGCGTC	0.662													T	31830506	C	T	31830506	2	4	197	1	0	0	0	0	0	0	0	1	10341	726	26	3		3	NEU1	6	31830506	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	3969754	31830506	139284561	34	13655											
PKHD1	5314	broad.mit.edu	37	6	51751972	51751972	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:51751972C>T	uc003pah.1	-	43	7344	c.7068G>A	c.(7066-7068)ccG>ccA	p.P2356P	PKHD1_uc010jzn.1_Silent_p.P339P|PKHD1_uc003pai.3_Silent_p.P2356P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2356					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.P2356P(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)					AGGAAAGAAGCGGAGCTTGTG	0.388													T	51751972	C	T	51751972	2	4	197	1	0	0	0	0	0	0	0	1	11971	755	27	1		1	PKHD1	6	51751972	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	19921466	51751972	119363095	35	13656											
C6orf165	154313	broad.mit.edu	37	6	88170826	88170826	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:88170826G>A	uc003plv.3	+	11	1704	c.1581G>A	c.(1579-1581)acG>acA	p.T527T	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Silent_p.T339T|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	527										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGCCACCAACGATTGTGAGAT	0.328													A	88170826	G	A	88170826	2	1	197	1	0	0	0	0	0	0	0	1	2341	1045	37	2		2	C6orf165	6	88170826	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	36418854	88170826	82944241	36	13657											
SDK1	221935	broad.mit.edu	37	7	4215452	4215452	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:4215452T>C	uc003smx.3	+	33	5121	c.4982T>C	c.(4981-4983)aTg>aCg	p.M1661T	SDK1_uc010kso.3_Intron|SDK1_uc003smy.3_Missense_Mutation_p.M148T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1661	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACATCGACGATGTGTGAACTA	0.582													C	4215452	T	C	4215452	3	2	197	1	0	0	0	0	1	0	0	0	13968	1464	51	4	5116	4	SDK1	7	4215452	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		4215452	154923211	37	13658											
GPR141	353345	broad.mit.edu	37	7	37780665	37780665	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:37780665C>G	uc003tfm.1	+	0	670	c.670C>G	c.(670-672)Cag>Gag	p.Q224E	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	224						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q224*(2)|p.Q224K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTGGGCTCAGCTGAAAAA	0.438													G	37780665	C	G	37780665	3	3	197	1	0	0	0	0	1	0	0	0	6649	827	29	5	672	5	GPR141	7	37780665	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	33565213	37780665	121357998	38	13659											
GLI3	2737	broad.mit.edu	37	7	42004153	42004153	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:42004153G>A	uc011kbh.2	-	14	4609	c.4518C>T	c.(4516-4518)ttC>ttT	p.F1506F	GLI3_uc011kbg.2_Silent_p.F1447F	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1506	Asp/Glu-rich (acidic).				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			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						TGATGGCATCGAAGTCAATCT	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				A	42004153	G	A	42004153	2	1	197	1	0	0	0	0	0	0	0	1	6439	1049	37	2		2	GLI3	7	42004153	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	4223488	42004153	117134510	39	13660											
SEMA3E	9723	broad.mit.edu	37	7	83095907	83095907	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:83095907G>T	uc003uhy.2	-	3	968	c.347C>A	c.(346-348)gCa>gAa	p.A116E	SEMA3E_uc022agy.1_Missense_Mutation_p.A56E	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	116	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACATAATTTGCACATTCACC	0.388													T	83095907	G	T	83095907	3	4	197	1	0	0	0	0	1	0	0	0	14028	1319	46	5	2036	5	SEMA3E	7	83095907	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	41091754	83095907	76042756	40	13661											
SAMD9L	219285	broad.mit.edu	37	7	92763418	92763418	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:92763418T>G	uc003umh.1	-	4	3083	c.1867A>C	c.(1867-1869)Aaa>Caa	p.K623Q	SAMD9L_uc003umj.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umi.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umk.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.K623Q|SAMD9L_uc022ahh.1_Missense_Mutation_p.K623Q	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	623										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GATTTTAGTTTAAGGATAGTG	0.383													G	92763418	T	G	92763418	3	3	197	1	0	0	0	0	1	0	0	0	13827	1763	61	5	2891	5	SAMD9L	7	92763418	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	9667511	92763418	66375245	41	13662											
TRRAP	8295	broad.mit.edu	37	7	98581850	98581850	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:98581850G>A	uc003upp.3	+	59	9378	c.9169G>A	c.(9169-9171)Gct>Act	p.A3057T	TRRAP_uc011kis.2_Missense_Mutation_p.A3028T|TRRAP_uc003upr.3_Missense_Mutation_p.A2745T	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3057	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTCAATGTAGCTCTGGATAT	0.448													A	98581850	G	A	98581850	3	1	197	1	0	0	0	0	1	0	0	0	16598	971	34	3	9312	3	TRRAP	7	98581850	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	5818432	98581850	60556813	42	13663											
ZCWPW1	55063	broad.mit.edu	37	7	99998699	99998699	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:99998699C>T	uc003uut.3	-	17	2133	c.1885G>A	c.(1885-1887)Ggg>Agg	p.G629R	ZCWPW1_uc011kjq.2_Missense_Mutation_p.G509R|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Missense_Mutation_p.G458R|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	629							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCAGCTCCCCGCTCTGCCCC	0.602													T	99998699	C	T	99998699	3	4	197	1	0	0	0	0	1	0	0	0	17594	652	23	2	65	2	ZCWPW1	7	99998699	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	1416849	99998699	59139964	43	13664											
NEFM	4741	broad.mit.edu	37	8	24772136	24772136	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:24772136T>C	uc003xed.4	+	0	863	c.830T>C	c.(829-831)cTc>cCc	p.L277P	NEFM_uc011lac.1_Missense_Mutation_p.L277P|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	277	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCTCCCAGCTCGAAAGCCAC	0.587													C	24772136	T	C	24772136	3	2	197	1	0	0	0	0	1	0	0	0	10316	1551	54	4	832	4	NEFM	8	24772136	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		24772136	121591886	44	13665											
ANK1	286	broad.mit.edu	37	8	41753935	41753935	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:41753935G>C	uc003xom.3	-	0	346	c.64C>G	c.(64-66)Cag>Gag	p.Q22E		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.	0	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S22L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTCCTTCTGCTCCTGGAGG	0.637													C	41753935	G	C	41753935	3	2	197	1	0	0	0	0	1	0	0	0	620	1328	46	5	6233	5	ANK1	8	41753935	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	16981799	41753935	104610087	45	13666											
RALYL	138046	broad.mit.edu	37	8	85774569	85774569	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:85774569G>A	uc003yct.4	+	5	625	c.491G>A	c.(490-492)cGt>cAt	p.R164H	RALYL_uc003ycq.4_Missense_Mutation_p.R151H|RALYL_uc003ycr.4_Missense_Mutation_p.R151H|RALYL_uc003ycs.4_Missense_Mutation_p.R151H|RALYL_uc010lzy.3_Missense_Mutation_p.R140H|RALYL_uc003ycu.4_Missense_Mutation_p.R78H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	151							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCACCTCCCCGTGCAGTAATT	0.498													A	85774569	G	A	85774569	3	1	197	1	0	0	0	0	1	0	0	0	13020	1145	40	1	513	1	RALYL	8	85774569	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	44020634	85774569	60589453	46	13667											
KCNS2	3788	broad.mit.edu	37	8	99440635	99440635	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:99440635G>A	uc003yin.3	+	1	778	c.428G>A	c.(427-429)aGc>aAc	p.S143N	KCNS2_uc022azb.1_Missense_Mutation_p.S143N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	143						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GACCAGGAGAGCACCACGTCT	0.582													A	99440635	G	A	99440635	3	1	197	1	0	0	0	0	1	0	0	0	8089	971	34	3	430	3	KCNS2	8	99440635	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	13666066	99440635	46923387	47	13668											
SNX30	401548	broad.mit.edu	37	9	115598647	115598647	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr9:115598647A>T	uc004bgj.4	+	4	920	c.772A>T	c.(772-774)Acc>Tcc	p.T258S	SNX30_uc004bgi.4_5'Flank	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	258					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAAACTGGGAACCATTGATCG	0.498													T	115598647	A	T	115598647	3	4	197	1	0	0	0	0	1	0	0	0	14900	43	2	5	790	5	SNX30	9	115598647	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08		115598647	25614784	48	13669											
PDCD11	22984	broad.mit.edu	37	10	105176336	105176336	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:105176336A>G	uc001kwy.1	+	12	1694	c.1607A>G	c.(1606-1608)tAt>tGt	p.Y536C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	536					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATTACCTGCTATGCCGATGCC	0.493											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	105176336	A	G	105176336	3	3	197	1	0	0	0	0	1	0	0	0	11617	449	16	4	1653	4	PDCD11	10	105176336	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08		105176336	30358411	49	13670											
KIAA1598	57698	broad.mit.edu	37	10	118671332	118671332	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:118671332T>G	uc021pzk.1	-	13	1826	c.1328A>C	c.(1327-1329)gAa>gCa	p.E443A	KIAA1598_uc009xyw.3_Missense_Mutation_p.E443A|KIAA1598_uc001lcz.4_Missense_Mutation_p.E443A|KIAA1598_uc010qso.2_Missense_Mutation_p.E383A|KIAA1598_uc010qsp.1_Missense_Mutation_p.E443A|KIAA1598_uc010qsq.1_Missense_Mutation_p.E383A|KIAA1598_uc001lcy.4_Missense_Mutation_p.E413A	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	443					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CACTGCACTTTCGCAGCCTTT	0.299													G	118671332	T	G	118671332	3	3	197	1	0	0	0	0	1	0	0	0	8246	1783	62	5	583	5	KIAA1598	10	118671332	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	13494996	118671332	16863415	50	13671											
CPXM2	119587	broad.mit.edu	37	10	125506512	125506512	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:125506512C>T	uc001lhk.1	-	13	2364	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H	CPXM2_uc001lhj.3_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	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)		GTTCAGGAGGCGCCAGTAATC	0.547													T	125506512	C	T	125506512	3	4	197	1	0	0	0	0	1	0	0	0	3838	768	27	1	235	1	CPXM2	10	125506512	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	6835180	125506512	10028235	51	13672											
HPS5	11234	broad.mit.edu	37	11	18309168	18309168	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:18309168C>T	uc001mod.1	-	17	2909	c.2631G>A	c.(2629-2631)tcG>tcA	p.S877S	HPS5_uc001moe.1_Silent_p.S763S|HPS5_uc001mof.1_Silent_p.S763S	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	877						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTATGATATCCGATGGCAAAA	0.408									Hermansky-Pudlak syndrome				T	18309168	C	T	18309168	2	4	197	1	0	0	0	0	0	0	0	1	7342	639	23	2		2	HPS5	11	18309168	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08		18309168	116697348	52	13673											
SLC5A12	159963	broad.mit.edu	37	11	26708091	26708091	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:26708091delC	uc001mra.2	-	10	1467	c.1154_splice	c.e10-1	p.C385_splice	SLC5A12_uc001mrb.2_Splice_Site	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	385					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAATAAGAGACCTGAAAGAAA	0.453													-	26708091	C	-	26708091	7	5	197	1	0	1	0	1	0	0	0	0	14664	521	18	0	726	0	SLC5A12	11	26708091	Frame_Shift_Del	DEL	C	TCGA-27-2527-01A-01D-1494-08	8398923	26708091	108298425	53	13674											
EXT2	2132	broad.mit.edu	37	11	44129545	44129545	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:44129545C>T	uc001mya.3	+	1	438	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	EXT2_uc010rfo.2_Missense_Mutation_p.R123C|EXT2_uc009ykt.3_Missense_Mutation_p.R95C|EXT2_uc001mxz.3_Missense_Mutation_p.R95C	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	95					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.R95C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGATGTCTATCGCTGTGGCTT	0.512			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				T	44129545	C	T	44129545	3	4	197	1	0	0	0	0	1	0	0	0	5324	884	31	2	388	2	EXT2	11	44129545	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	17421454	44129545	90876971	54	13675											
OR4A5	81318	broad.mit.edu	37	11	51412077	51412077	+	Missense_Mutation	SNP	C	C	T	rs5002407		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:51412077C>T	uc001nhi.2	-	0	372	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACCTCAGCCCCACCAAAGAAA	0.443													T	51412077	C	T	51412077	3	4	197	1	0	0	0	0	1	0	0	0	11043	594	21	3	632	3	OR4A5	11	51412077	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	7282532	51412077	83594439	55	13676											
MMP13	4322	broad.mit.edu	37	11	102816396	102816396	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:102816396C>A	uc001phl.3	-	8	1323	c.1294G>T	c.(1294-1296)Gat>Tat	p.D432Y		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	432	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAGACAGCATCTACTTTATCA	0.328													A	102816396	C	A	102816396	3	1	197	1	0	0	0	0	1	0	0	0	9652	913	32	5	129	5	MMP13	11	102816396	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	51404319	102816396	32190120	56	13677											
MMP13	4322	broad.mit.edu	37	11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:102826101C>T	uc001phl.3	-	1	271	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	81					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCAAGTTTGCCAGTCACCTC	0.473													T	102826101	C	T	102826101	3	4	197	1	0	0	0	0	1	0	0	0	9652	739	26	3	1209	3	MMP13	11	102826101	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	9705	102826101	32180415	57	13678											
OR10G8	219869	broad.mit.edu	37	11	123900834	123900834	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:123900834G>A	uc001pzp.1	+	0	505	c.505G>A	c.(505-507)Gga>Aga	p.G169R		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G169A(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCCTACTGTGGACCCAACTG	0.537													A	123900834	G	A	123900834	3	1	197	1	0	0	0	0	1	0	0	0	10903	1349	47	3	507	3	OR10G8	11	123900834	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	21074733	123900834	11105682	58	13679											
CACNA1C	775	broad.mit.edu	37	12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:2716164C>T	uc009zdu.1	+	26	3597	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	CACNA1C_uc001qkc.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qke.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1075M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkj.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkk.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkm.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qko.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qku.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qks.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdv.1_Missense_Mutation_p.T1072M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qka.1_Missense_Mutation_p.T610M|CACNA1C_uc001qki.1_Missense_Mutation_p.T811M	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1095					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			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)	AACTACATCACGTACAAAGAC	0.557													T	2716164	C	T	2716164	3	4	197	1	0	0	0	0	1	0	0	0	2540	536	19	1	3498	1	CACNA1C	12	2716164	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		2716164	131135731	59	13680											
C1S	716	broad.mit.edu	37	12	7174399	7174399	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:7174399T>A	uc001qsj.3	+	11	1763	c.1044T>A	c.(1042-1044)agT>agA	p.S348R	C1S_uc001qsk.3_Missense_Mutation_p.S348R|C1S_uc001qsl.3_Missense_Mutation_p.S348R|C1S_uc009zfr.3_Missense_Mutation_p.S181R|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	348	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAAAGTGGAGTAATTCCAAAC	0.368													A	7174399	T	A	7174399	3	1	197	1	0	0	0	0	1	0	0	0	1974	1635	57	5	1074	5	C1S	12	7174399	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	4458235	7174399	126677496	60	13681											
SYT10	341359	broad.mit.edu	37	12	33538180	33538180	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:33538180G>A	uc001rll.1	-	3	1421	c.1124C>T	c.(1123-1125)cCg>cTg	p.P375L	SYT10_uc009zju.1_Missense_Mutation_p.P185L	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	375	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCCAGCCGTCGGTAGGTAACA	0.438													A	33538180	G	A	33538180	3	1	197	1	0	0	0	0	1	0	0	0	15463	1116	39	2	463	2	SYT10	12	33538180	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	26363781	33538180	100313715	61	13682											
C12orf68	387856	broad.mit.edu	37	12	48578422	48578422	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:48578422C>T	uc001rrj.2	+	0	1057	c.517C>T	c.(517-519)Cca>Tca	p.P173S		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.	173						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						GGGGGACGGGCCACTTGTGGA	0.662													T	48578422	C	T	48578422	3	4	197	1	0	0	0	0	1	0	0	0	1710	739	26	3	519	3	C12orf68	12	48578422	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	15040242	48578422	85273473	62	13683											
SCN8A	6334	broad.mit.edu	37	12	52180608	52180608	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:52180608G>A	uc001ryw.3	+	21	4403	c.4225G>A	c.(4225-4227)Gta>Ata	p.V1409I	SCN8A_uc010snl.2_Missense_Mutation_p.V1368I|SCN8A_uc001rza.1_Non-coding_Transcript	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1409					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTTCTTCAAGTAGTAAGTAG	0.403													A	52180608	G	A	52180608	3	1	197	1	0	0	0	0	1	0	0	0	13924	1029	36	3	4307	3	SCN8A	12	52180608	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	3602186	52180608	81671287	63	13684											
KLHL1	57626	broad.mit.edu	37	13	70535514	70535514	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr13:70535514G>A	uc001vip.3	-	2	1537	c.743C>T	c.(742-744)gCc>gTc	p.A248V	KLHL1_uc010thm.2_Missense_Mutation_p.A187V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	248	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCTTGCTTGGCTTCACAAAC	0.413													A	70535514	G	A	70535514	3	1	197	1	0	0	0	0	1	0	0	0	8365	1203	42	3	1539	3	KLHL1	13	70535514	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08		70535514	44634364	64	13685											
SPTB	6710	broad.mit.edu	37	14	65245925	65245925	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr14:65245925C>T	uc001xht.3	-	20	4564	c.4513G>A	c.(4513-4515)Gac>Aac	p.D1505N	SPTB_uc001xhr.3_Missense_Mutation_p.D1505N|SPTB_uc001xhs.3_Missense_Mutation_p.D1505N|SPTB_uc001xhu.3_Missense_Mutation_p.D1505N|SPTB_uc010aqi.3_Missense_Mutation_p.D166N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1505					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			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)		GTGCCATAGTCGGCTGACTGG	0.587													T	65245925	C	T	65245925	3	4	197	1	0	0	0	0	1	0	0	0	15117	884	31	2	2602	2	SPTB	14	65245925	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		65245925	42103615	65	13686											
SPTBN5	51332	broad.mit.edu	37	15	42168354	42168354	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:42168354G>A	uc001zos.3	-	20	4308	c.3975C>T	c.(3973-3975)agC>agT	p.S1325S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1360					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGAGTAGCTCGCTCTCAGCTG	0.622													A	42168354	G	A	42168354	2	1	197	1	0	0	0	0	0	0	0	1	15121	1078	38	1		1	SPTBN5	15	42168354	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08		42168354	60363038	66	13687											
HERC1	8925	broad.mit.edu	37	15	63948489	63948489	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:63948489C>T	uc002amp.3	-	48	9816	c.9668G>A	c.(9667-9669)cGa>cAa	p.R3223Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3223					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			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						GCACATTAATCGAACTAGCGT	0.532													T	63948489	C	T	63948489	3	4	197	1	0	0	0	0	1	0	0	0	7057	884	31	2	5037	2	HERC1	15	63948489	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	21780135	63948489	38582903	67	13688											
TMC3	342125	broad.mit.edu	37	15	81628948	81628948	+	Splice_Site	SNP	A	A	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:81628948A>G	uc021ssk.1	-	20	2203	c.2203_splice	c.e20+1	p.A735_splice	TMC3_uc021ssj.1_Splice_Site|TMC3_uc010blr.1_Splice_Site	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	735				A -> AA (in Ref. 1; AAP78778).		integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGAAATACTTACCTTCTACCA	0.428													G	81628948	A	G	81628948	5	3	197	1	0	0	0	0	0	0	1	0	15983	405	14	4	1109	4	TMC3	15	81628948	Splice_Site	SNP	A	TCGA-27-2527-01A-01D-1494-08	17680459	81628948	20902444	68	13689											
IL34	146433	broad.mit.edu	37	16	70693910	70693910	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr16:70693910C>A	uc002ezh.2	+	6	1104	c.549C>A	c.(547-549)agC>agA	p.S183R	IL34_uc002ezi.2_Missense_Mutation_p.S182R|IL34_uc021tkk.1_Missense_Mutation_p.S183R	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	Homo sapiens interleukin 34 (IL34), transcript variant 1, mRNA.	183					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTAAACAAAGCTCCGTCCTAA	0.562													A	70693910	C	A	70693910	3	1	197	1	0	0	0	0	1	0	0	0	7694	796	28	5	571	5	IL34	16	70693910	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		70693910	19660843	69	13690											
TTC25	83538	broad.mit.edu	37	17	40092757	40092757	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr17:40092757G>A	uc002hyj.4	+	3	518	c.429G>A	c.(427-429)ggG>ggA	p.G143G	TTC25_uc021txp.1_Silent_p.G143G	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	143						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGAACAAAGGGGACCTCTCCT	0.522													A	40092757	G	A	40092757	2	1	197	1	0	0	0	0	0	0	0	1	16690	1219	43	3		3	TTC25	17	40092757	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08		40092757	41102453	70	13691											
BZRAP1	9256	broad.mit.edu	37	17	56389930	56389930	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr17:56389930C>G	uc002ivx.4	-	16	3123	c.2252G>C	c.(2251-2253)gGc>gCc	p.G751A	BZRAP1_uc010dcs.3_Missense_Mutation_p.G691A|BZRAP1_uc010wnt.2_Missense_Mutation_p.G751A	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	751						mitochondrion	benzodiazepine receptor binding			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)					GCTACTGCTGCCACCCCCACC	0.632													G	56389930	C	G	56389930	3	3	197	1	0	0	0	0	1	0	0	0	1577	739	26	5	3381	5	BZRAP1	17	56389930	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	16297173	56389930	24805280	71	13692											
RYR1	6261	broad.mit.edu	37	19	38990280	38990280	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:38990280A>C	uc002oit.3	+	43	7163	c.7033A>C	c.(7033-7035)Agc>Cgc	p.S2345R	RYR1_uc002oiu.3_Missense_Mutation_p.S2345R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2345	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			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)	GCCAGGCGAGAGCGTGGAGGA	0.667													C	38990280	A	C	38990280	3	2	197	1	0	0	0	0	1	0	0	0	13768	304	11	5	7207	5	RYR1	19	38990280	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08		38990280	20138703	72	13693											
CADM4	199731	broad.mit.edu	37	19	44130439	44130439	+	Silent	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:44130439T>C	uc002oxc.1	-	5	549	c.500_splice	c.e5-1	p.G167_splice		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	167	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TGCTGCTCACTCCTGCCACAC	0.592													C	44130439	T	C	44130439	2	2	197	1	0	0	0	0	0	0	0	1	2569	1565	54	4		4	CADM4	19	44130439	Silent	SNP	T	TCGA-27-2527-01A-01D-1494-08	5140159	44130439	14998544	73	13694											
EML2	24139	broad.mit.edu	37	19	46124852	46124852	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:46124852G>A	uc010xxm.2	-	12	1561	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	EML2_uc002pcn.3_Silent_p.G295G|EML2_uc002pcp.3_Silent_p.G179G|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.G442G|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.G295G|EML2_uc010ekj.3_Missense_Mutation_p.A262V	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	295					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CAAACACGCCGCCGTCGTGGG	0.687													A	46124852	G	A	46124852	2	1	197	1	0	0	0	0	0	0	0	1	5097	1074	38	1		1	EML2	19	46124852	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	1994413	46124852	13004131	74	13695											
ZNF324B	388569	broad.mit.edu	37	19	58967238	58967238	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:58967238C>T	uc002qsv.1	+	3	1034	c.927C>T	c.(925-927)ggC>ggT	p.G309G	ZNF324B_uc002qsu.1_Silent_p.G299G|ZNF324B_uc010euq.1_Silent_p.G309G	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCACAGCGGCGAGACGCCCT	0.687													T	58967238	C	T	58967238	2	4	197	1	0	0	0	0	0	0	0	1	17842	755	27	1		1	ZNF324B	19	58967238	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	12842386	58967238	161745	75	13696											
ADAMTS1	9510	broad.mit.edu	37	21	28212824	28212824	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr21:28212824C>A	uc002ymf.3	-	4	1891	c.1436G>T	c.(1435-1437)gGc>gTc	p.G479V		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	479	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTACGAGGTGCCAGGGAGATC	0.527													A	28212824	C	A	28212824	3	1	197	1	0	0	0	0	1	0	0	0	255	739	26	5	1487	5	ADAMTS1	21	28212824	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		28212824	19917071	76	13697											
PRAME	23532	broad.mit.edu	37	22	22893261	22893261	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr22:22893261T>C	uc002zwf.3	-	2	428	c.272A>G	c.(271-273)cAt>cGt	p.H91R	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.H75R|PRAME_uc010gtr.3_Missense_Mutation_p.H91R|PRAME_uc002zwg.3_Missense_Mutation_p.H91R|PRAME_uc002zwh.3_Missense_Mutation_p.H91R|PRAME_uc002zwi.3_Missense_Mutation_p.H91R|PRAME_uc002zwj.3_Missense_Mutation_p.H91R|PRAME_uc002zwk.3_Missense_Mutation_p.H91R	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	91					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGGTGAAGATGTTGTCCCTT	0.582													C	22893261	T	C	22893261	3	2	197	1	0	0	0	0	1	0	0	0	12424	1464	51	4	1269	4	PRAME	22	22893261	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		22893261	28411305	77	13698											
FRMD7	90167	broad.mit.edu	37	X	131212279	131212279	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chrX:131212279C>A	uc004ewn.3	-	11	1944	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M	FRMD7_uc022cdy.1_Missense_Mutation_p.R469M|FRMD7_uc011muy.2_Missense_Mutation_p.R574M	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	589					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTCTGGGACCTTTTAGGGGT	0.433													A	131212279	C	A	131212279	3	1	197	1	0	0	0	0	1	0	0	0	6055	681	24	5	382	5	FRMD7	23	131212279	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		131212279	24058281	78	13699											
GPR50	9248	broad.mit.edu	37	X	150349759	150349759	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chrX:150349759C>T	uc010ntg.2	+	1	1842	c.1704C>T	c.(1702-1704)gcC>gcT	p.A568A		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	568	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCCTGCCGCTGGGCCCA	0.602													T	150349759	C	T	150349759	2	4	197	1	0	0	0	0	0	0	0	1	6697	639	23	2		2	GPR50	23	150349759	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	19137480	150349759	4920801	79	13700											
CELA3B	23436	broad.mit.edu	37	1	22313121	22313121	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:22313121G>A	uc001bfk.3	+	6	855	c.740G>A	c.(739-741)cGc>cAc	p.R247H	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	247	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCAACACCCGCAGGAAGCCC	0.622													A	22313121	G	A	22313121	3	1	198	1	0	0	0	0	1	0	0	0	3214	1087	38	1	766	1	CELA3B	1	22313121	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		22313121	226937500	1	13701											
ZNF683	257101	broad.mit.edu	37	1	26691223	26691223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:26691223G>A	uc001bmg.1	-	3	932	c.814C>T	c.(814-816)Cga>Tga	p.R272*	ZNF683_uc001bmh.1_Nonsense_Mutation_p.R272*|ZNF683_uc009vsj.1_Nonsense_Mutation_p.R272*	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCTGGATTTCGGGCCTGGGAA	0.652													A	26691223	G	A	26691223	4	1	198	1	0	0	0	0	0	1	0	0	18087	1124	39	2	712	2	ZNF683	1	26691223	Nonsense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	4378102	26691223	222559398	2	13702											
SPTA1	6708	broad.mit.edu	37	1	158614117	158614117	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:158614117C>T	uc001fst.1	-	29	4463	c.4264G>A	c.(4264-4266)Gac>Aac	p.D1422N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1422					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAACTTTTGTCATCTGACCTC	0.443													T	158614117	C	T	158614117	3	4	198	1	0	0	0	0	1	0	0	0	15115	826	29	3	3087	3	SPTA1	1	158614117	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	131922894	158614117	90636504	3	13703											
CNTN2	6900	broad.mit.edu	37	1	205033757	205033758	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:205033757_205033758delTG	uc001hbr.3	+	11	1667_1668	c.1398_1399delTG	c.(1396-1401)actgtafs	p.T466fs	CNTN2_uc001hbq.1_Frame_Shift_Del_p.T357fs|CNTN2_uc001hbs.3_Frame_Shift_Del_p.T254fs	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	466	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAGAGTGACTGTAACTCCAGA	0.525													-	205033758	TG	-	205033757	7	5	198	1	0	1	0	1	0	0	0	0	3641	1567	55	0	1440	0	CNTN2	1	205033757	Frame_Shift_Del	DEL	TG	TCGA-27-2528-01A-01D-1494-08	46419640	205033757	44216864	4	13704											
OBSCN	84033	broad.mit.edu	37	1	228468436	228468436	+	Silent	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:228468436C>T	uc009xez.1	+	29	8180	c.8136C>T	c.(8134-8136)gaC>gaT	p.D2712D	OBSCN_uc001hsn.3_Silent_p.D2712D|OBSCN_uc001hsp.1_Silent_p.D411D|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2712	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCTGAAGACGCCGGCCTGT	0.692													T	228468436	C	T	228468436	2	4	198	1	0	0	0	0	0	0	0	1	10812	535	19	1		1	OBSCN	1	228468436	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08	23434679	228468436	20782185	5	13705											
SLC4A5	57835	broad.mit.edu	37	2	74479508	74479508	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:74479508C>T	uc002sko.1	-	10	1278	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.V426M|SLC4A5_uc010ffc.1_Missense_Mutation_p.V426M|SLC4A5_uc002skp.1_Missense_Mutation_p.V362M|SLC4A5_uc002sks.1_Missense_Mutation_p.V426M	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	426						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGGAGAACACAGATTTCCTG	0.552													T	74479508	C	T	74479508	3	4	198	1	0	0	0	0	1	0	0	0	14657	478	17	3	2201	3	SLC4A5	2	74479508	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		74479508	168719865	6	13706											
UGGT1	56886	broad.mit.edu	37	2	128935427	128935427	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:128935427G>A	uc002tps.3	+	32	3824	c.3646G>A	c.(3646-3648)Gtg>Atg	p.V1216M	UGGT1_uc002tpr.3_Missense_Mutation_p.V1192M	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1216					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGCAGATATGGTGAACGAAGA	0.398													A	128935427	G	A	128935427	3	1	198	1	0	0	0	0	1	0	0	0	16938	1261	44	3	3776	3	UGGT1	2	128935427	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	54455919	128935427	114263946	7	13707											
SP110	3431	broad.mit.edu	37	2	231067312	231067312	+	Missense_Mutation	SNP	C	C	T	rs144163010		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:231067312C>T	uc002vqg.3	-	8	1271	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	SP110_uc002vqh.3_Missense_Mutation_p.R344Q|SP110_uc002vqi.4_Missense_Mutation_p.R344Q|SP110_uc010fxk.3_Missense_Mutation_p.R342Q|SP110_uc021vxx.1_Missense_Mutation_p.R350Q|SP110_uc010fxj.3_Intron	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	344					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTCGACTTTCGGGCACATTC	0.478													T	231067312	C	T	231067312	3	4	198	1	0	0	0	0	1	0	0	0	14961	884	31	2	1218	2	SP110	2	231067312	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	102131885	231067312	12132061	8	13708											
KIF1A	547	broad.mit.edu	37	2	241657468	241657468	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:241657468G>A	uc010fzk.3	-	48	5580	c.5333_splice	c.e48+1	p.R1778_splice	KIF1A_uc002vzy.3_Splice_Site_p.R1677_splice|KIF1A_uc002vzw.3_Splice_Site_p.R338_splice|KIF1A_uc002vzx.3_Splice_Site_p.R404_splice	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1677					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGGCCCTACCGTATGGTCCCG	0.662													A	241657468	G	A	241657468	3	1	198	1	0	0	0	0	1	0	0	0	8283	1159	40	1	51	1	KIF1A	2	241657468	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	10590156	241657468	1541905	9	13709											
WDR48	57599	broad.mit.edu	37	3	39126186	39126186	+	Silent	SNP	T	T	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr3:39126186T>G	uc003cit.3	+	12	1342	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	WDR48_uc011ayt.1_Silent_p.S435S|WDR48_uc011ayu.1_Silent_p.S362S|WDR48_uc011ayv.1_Silent_p.S169S|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	444					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTGGGTTTCTGCAAAAGATG	0.363													G	39126186	T	G	39126186	2	3	198	1	0	0	0	0	0	0	0	1	17298	1567	55	5		5	WDR48	3	39126186	Silent	SNP	T	TCGA-27-2528-01A-01D-1494-08		39126186	158896244	10	13710											
FBXL5	26234	broad.mit.edu	37	4	15626935	15626935	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:15626935C>A	uc003goc.2	-	8	1915	c.1790G>T	c.(1789-1791)gGa>gTa	p.G597V	FBXL5_uc010idw.2_Missense_Mutation_p.G510V|FBXL5_uc003gob.2_Missense_Mutation_p.G459V|FBXL5_uc010idx.2_Missense_Mutation_p.G596V|FBXL5_uc003god.2_Missense_Mutation_p.G580V|FBXL5_uc010idy.2_Missense_Mutation_p.G597V	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	597					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AAGTACACGTCCAGTCTCTTG	0.393													A	15626935	C	A	15626935	3	1	198	1	0	0	0	0	1	0	0	0	5722	855	30	5	297	5	FBXL5	4	15626935	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		15626935	175527341	11	13711											
NIPAL1	152519	broad.mit.edu	37	4	48037778	48037778	+	Silent	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:48037778G>A	uc003gxw.3	+	5	888	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	274						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAACATCCGCTGGTCTTTG	0.428													A	48037778	G	A	48037778	2	1	198	1	0	0	0	0	0	0	0	1	10424	1074	38	1		1	NIPAL1	4	48037778	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08	32410843	48037778	143116498	12	13712											
BMP3	651	broad.mit.edu	37	4	81967723	81967723	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:81967723G>T	uc003hmg.4	+	1	1468	c.1148G>T	c.(1147-1149)gGc>gTc	p.G383V		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	383					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCAGATATTGGCTGGAGTGAA	0.478													T	81967723	G	T	81967723	3	4	198	1	0	0	0	0	1	0	0	0	1461	1203	42	5	1154	5	BMP3	4	81967723	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	33929945	81967723	109186553	13	13713											
NDST4	64579	broad.mit.edu	37	4	115998108	115998108	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:115998108A>G	uc003ibu.3	-	1	764	c.85T>C	c.(85-87)Tct>Cct	p.S29P	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	29						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAATAGGCAGAAATGACAATG	0.358													G	115998108	A	G	115998108	3	3	198	1	0	0	0	0	1	0	0	0	10258	246	9	4	2585	4	NDST4	4	115998108	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	34030385	115998108	75156168	14	13714											
RAI14	26064	broad.mit.edu	37	5	34811182	34811182	+	Frame_Shift_Del	DEL	G	G	-			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:34811182delG	uc003jis.3	+	9	1064	c.525delG	c.(523-525)ctgfs	p.L175fs	RAI14_uc003jir.3_Frame_Shift_Del_p.L172fs|RAI14_uc010iur.3_Frame_Shift_Del_p.L172fs|RAI14_uc011coj.2_Frame_Shift_Del_p.L172fs|RAI14_uc010ius.1_Frame_Shift_Del_p.L101fs|RAI14_uc003jit.3_Frame_Shift_Del_p.L172fs|RAI14_uc011cok.2_Frame_Shift_Del_p.L164fs	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	172						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACTTTCTCCTGGATCATGGAG	0.418													-	34811182	G	-	34811182	7	5	198	1	0	1	0	1	0	0	0	0	13008	1335	47	0	607	0	RAI14	5	34811182	Frame_Shift_Del	DEL	G	TCGA-27-2528-01A-01D-1494-08		34811182	146104078	15	13715											
UGT3A2	167127	broad.mit.edu	37	5	36035914	36035914	+	Silent	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:36035914G>A	uc003jjz.2	-	6	1590	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	UGT3A2_uc011cos.2_Silent_p.L452L|UGT3A2_uc011cot.2_Silent_p.L184L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	486				L -> F (in Ref. 1; AAQ88782).		integral to membrane	glucuronosyltransferase activity	p.L486I(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)			CAAAAACGTCGAGCAGGTACT	0.612													A	36035914	G	A	36035914	2	1	198	1	0	0	0	0	0	0	0	1	16961	1045	37	2		2	UGT3A2	5	36035914	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08	1224732	36035914	144879346	16	13716											
SLCO6A1	133482	broad.mit.edu	37	5	101816115	101816115	+	Missense_Mutation	SNP	C	C	T	rs111320089	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:101816115C>T	uc003knn.3	-	1	554	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	SLCO6A1_uc003kno.3_Missense_Mutation_p.V128I|SLCO6A1_uc003knp.3_Missense_Mutation_p.V128I|SLCO6A1_uc003knq.3_Missense_Mutation_p.V128I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	128						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCAATGCTGACATCTATAAGA	0.328													T	101816115	C	T	101816115	3	4	198	1	0	0	0	0	1	0	0	0	14732	478	17	3	1825	3	SLCO6A1	5	101816115	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	65780201	101816115	79099145	17	13717											
PCDHB5	26167	broad.mit.edu	37	5	140516912	140516912	+	Silent	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:140516912C>T	uc003liq.3	+	0	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	632	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692													T	140516912	C	T	140516912	2	4	198	1	0	0	0	0	0	0	0	1	11545	755	27	1		1	PCDHB5	5	140516912	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08	38700797	140516912	40398348	18	13718											
ABLIM3	22885	broad.mit.edu	37	5	148586637	148586637	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:148586637A>G	uc003lpy.2	+	5	766	c.515A>G	c.(514-516)cAc>cGc	p.H172R	ABLIM3_uc003lpz.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqa.1_Missense_Mutation_p.H180R|ABLIM3_uc003lqb.3_Missense_Mutation_p.H172R|ABLIM3_uc003lqc.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqd.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqe.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqf.3_Missense_Mutation_p.H172R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	172	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCAGTGGCACGTCAGCTGC	0.612													G	148586637	A	G	148586637	3	3	198	1	0	0	0	0	1	0	0	0	96	159	6	4	533	4	ABLIM3	5	148586637	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	8069725	148586637	32328623	19	13719											
GABRA1	2554	broad.mit.edu	37	5	161300296	161300296	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:161300296C>A	uc010jiw.3	+	5	897	c.429C>A	c.(427-429)aaC>aaA	p.N143K	GABRA1_uc010jix.3_Missense_Mutation_p.N143K|GABRA1_uc010jiy.3_Missense_Mutation_p.N143K|GABRA1_uc003lyx.4_Missense_Mutation_p.N143K|GABRA1_uc010jiz.3_Missense_Mutation_p.N143K|GABRA1_uc010jja.3_Missense_Mutation_p.N143K|GABRA1_uc010jjb.3_Missense_Mutation_p.N143K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	143					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			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)	CCATGCCCAACAAACTCCTGC	0.473													A	161300296	C	A	161300296	3	1	198	1	0	0	0	0	1	0	0	0	6160	477	17	5	443	5	GABRA1	5	161300296	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	12713659	161300296	19614964	20	13720											
RARS	5917	broad.mit.edu	37	5	167919770	167919770	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:167919770A>G	uc003lzx.3	+	2	328	c.287A>G	c.(286-288)gAa>gGa	p.E96G	RARS_uc011deo.2_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	96					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CCAGATTTGGAAAATCCTCCT	0.418													G	167919770	A	G	167919770	3	3	198	1	0	0	0	0	1	0	0	0	13058	246	9	4	297	4	RARS	5	167919770	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	6619474	167919770	12995490	21	13721											
HIST1H2BE	8344	broad.mit.edu	37	6	26184206	26184207	+	In_Frame_Ins	INS	-	-	ATC			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:26184206_26184207insATC	uc003ngt.3	+	0	183_184	c.183_184insATC	c.(181-186)insATC	p.62_63insI		NM_003523	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.	62					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						AAGCCATGGGGATCATGAATTC	0.574													ATC	26184207	-	ATC	26184206	7	5	198	1	0	1	1	0	0	0	0	0	7144	1161	41	0	185	0	HIST1H2BE	6	26184206	In_Frame_Ins	INS	-	TCGA-27-2528-01A-01D-1494-08		26184206	144930861	22	13722											
SLC35D3	340146	broad.mit.edu	37	6	137245675	137245675	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:137245675G>T	uc003qhe.3	+	1	1257	c.1092G>T	c.(1090-1092)agG>agT	p.R364S		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	364					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AAGAGGTCAGGGGCAGCCCCC	0.637													T	137245675	G	T	137245675	3	4	198	1	0	0	0	0	1	0	0	0	14583	1223	43	5	1098	5	SLC35D3	6	137245675	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	111061469	137245675	33869392	23	13723											
SYNE1	23345	broad.mit.edu	37	6	152751311	152751311	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:152751311A>T	uc021zhb.1	-	33	4947	c.4724T>A	c.(4723-4725)cTt>cAt	p.L1575H	SYNE1_uc003qot.4_Missense_Mutation_p.L1582H|SYNE1_uc003qou.4_Missense_Mutation_p.L1575H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1558H|SYNE1_uc003qow.3_Missense_Mutation_p.L870H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1575					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			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)		TGGAACAGCAAGTTTATCTTC	0.303										HNSCC(10;0.0054)			T	152751311	A	T	152751311	3	4	198	1	0	0	0	0	1	0	0	0	15442	72	3	5	22186	5	SYNE1	6	152751311	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	15505636	152751311	18363756	24	13724											
C7orf26	79034	broad.mit.edu	37	7	6630085	6630085	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:6630085G>C	uc003sqo.1	+	0	171	c.171G>C	c.(169-171)aaG>aaC	p.K57N	DQ579268_uc021zzi.1_5'Flank|C7orf26_uc003sqp.1_Missense_Mutation_p.K57N	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	57										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGGTGCCCAAGGAGCGCAGCG	0.701													C	6630085	G	C	6630085	3	2	198	1	0	0	0	0	1	0	0	0	2381	991	35	5	173	5	C7orf26	7	6630085	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		6630085	152508578	25	13725											
DNAH11	8701	broad.mit.edu	37	7	21603893	21603893	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:21603893C>T	uc003svc.3	+	5	1103	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	358	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R358R(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCACAGACACGCATATTAAT	0.443									Kartagener syndrome				T	21603893	C	T	21603893	3	4	198	1	0	0	0	0	1	0	0	0	4599	536	19	1	1094	1	DNAH11	7	21603893	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	14973808	21603893	137534770	26	13726											
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220274	C	T	55220274	3	4	198	1	0	0	0	0	1	0	0	0	4967	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	33616381	55220274	103918389	27	13727											
SPAM1	6677	broad.mit.edu	37	7	123593667	123593667	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:123593667G>A	uc003vle.3	+	2	482	c.43G>A	c.(43-45)Gtt>Att	p.V15I	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.V15I|SPAM1_uc022aks.1_Missense_Mutation_p.V15I|SPAM1_uc003vlf.4_Missense_Mutation_p.V15I|SPAM1_uc010lku.3_Missense_Mutation_p.V15I	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	15					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAGAAGCTTTGTTAAATCAAG	0.373													A	123593667	G	A	123593667	3	1	198	1	0	0	0	0	1	0	0	0	14986	1377	48	3	45	3	SPAM1	7	123593667	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	68373393	123593667	35544996	28	13728											
CUL1	8454	broad.mit.edu	37	7	148484161	148484161	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:148484161C>G	uc010lpg.3	+	12	1954	c.1428C>G	c.(1426-1428)caC>caG	p.H476Q	CUL1_uc003wey.3_Missense_Mutation_p.H476Q|CUL1_uc003wez.3_Missense_Mutation_p.H366Q|CUL1_uc003wfa.3_Missense_Mutation_p.H137Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	476					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGCTCGTCCACCAGAACAGTG	0.448													G	148484161	C	G	148484161	3	3	198	1	0	0	0	0	1	0	0	0	4054	506	18	5	1474	5	CUL1	7	148484161	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	24890494	148484161	10654502	29	13729											
ENG	2022	broad.mit.edu	37	9	130579436	130579436	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:130579436T>C	uc004bsj.4	-	12	2146	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	ENG_uc011mam.2_Missense_Mutation_p.D389G|ENG_uc004bsk.4_Missense_Mutation_p.D578G|AK057719_uc004bsl.1_Non-coding_Transcript	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	578					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						ACCAGACAGGTCAGGGCTGAT	0.572									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				C	130579436	T	C	130579436	3	2	198	1	0	0	0	0	1	0	0	0	5117	1667	58	4	281	4	ENG	9	130579436	Missense_Mutation	SNP	T	TCGA-27-2528-01A-01D-1494-08		130579436	10633995	30	13730											
CACNA1B	774	broad.mit.edu	37	9	141006952	141006952	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:141006952A>G	uc004cog.3	+	38	5670	c.5525A>G	c.(5524-5526)cAt>cGt	p.H1842R	CACNA1B_uc022bqn.1_Missense_Mutation_p.H1842R|CACNA1B_uc004coi.3_Missense_Mutation_p.H1056R|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.H124R	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1844					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTACCACCCCATAAGCGTAAG	0.577													G	141006952	A	G	141006952	3	3	198	1	0	0	0	0	1	0	0	0	2539	217	8	4	5685	4	CACNA1B	9	141006952	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	10427516	141006952	206479	31	13731											
JMJD1C	221037	broad.mit.edu	37	10	64954062	64954062	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr10:64954062T>A	uc001jmn.3	-	13	6018	c.5718A>T	c.(5716-5718)caA>caT	p.Q1906H	JMJD1C_uc001jml.3_Missense_Mutation_p.Q1687H|JMJD1C_uc001jmm.3_Missense_Mutation_p.Q1618H|JMJD1C_uc010qiq.2_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpi.3_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.Q804H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1906					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			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)					CAGGTATAATTTGGGTTGGCA	0.333													A	64954062	T	A	64954062	3	1	198	1	0	0	0	0	1	0	0	0	7950	1838	64	5	1956	5	JMJD1C	10	64954062	Missense_Mutation	SNP	T	TCGA-27-2528-01A-01D-1494-08		64954062	70580685	32	13732											
PDCD11	22984	broad.mit.edu	37	10	105204397	105204397	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr10:105204397A>G	uc001kwy.1	+	34	5489	c.5402A>G	c.(5401-5403)tAt>tGt	p.Y1801C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1801					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTCGGTCTATATCGACATG	0.597													G	105204397	A	G	105204397	3	3	198	1	0	0	0	0	1	0	0	0	11617	449	16	4	5536	4	PDCD11	10	105204397	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	40250335	105204397	30330350	33	13733											
CHID1	66005	broad.mit.edu	37	11	902312	902312	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:902312C>T	uc010qwu.1	-	3	483	c.370G>A	c.(370-372)Gat>Aat	p.D124N	CHID1_uc010qwv.2_Missense_Mutation_p.D155N|CHID1_uc001lsn.3_Missense_Mutation_p.D119N|CHID1_uc001lso.3_Missense_Mutation_p.D94N|CHID1_uc001lsm.3_Missense_Mutation_p.D94N|CHID1_uc001lsp.3_Missense_Mutation_p.D94N|CHID1_uc010qww.2_Missense_Mutation_p.D94N	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.	94					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	p.T124M(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TTGGTGACATCGTAGCCATGG	0.562													T	902312	C	T	902312	3	4	198	1	0	0	0	0	1	0	0	0	3345	884	31	2	941	2	CHID1	11	902312	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		902312	134104204	34	13734											
WT1	7490	broad.mit.edu	37	11	32413578	32413578	+	Nonsense_Mutation	SNP	G	G	A	rs121907909		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:32413578G>A	uc001mtn.2	-	8	1562	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	WT1_uc001mtl.2_Nonsense_Mutation_p.R246*|WT1_uc001mtm.2_Nonsense_Mutation_p.R229*|WT1_uc001mto.2_Nonsense_Mutation_p.R458*|WT1_uc001mtq.2_Nonsense_Mutation_p.R441*|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	390					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R390*(9)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAGAACTTTCGCTGACAAGTT	0.458			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				A	32413578	G	A	32413578	4	1	198	1	0	0	0	0	0	1	0	0	17405	1095	38	1	189	1	WT1	11	32413578	Nonsense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	31511266	32413578	102592938	35	13735											
OR5W2	390148	broad.mit.edu	37	11	55681478	55681478	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:55681478A>T	uc010rir.2	-	0	581	c.581T>A	c.(580-582)gTc>gAc	p.V194D		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q193K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAACTCATTGACCTGTGTATC	0.393													T	55681478	A	T	55681478	3	4	198	1	0	0	0	0	1	0	0	0	11185	275	10	5	353	5	OR5W2	11	55681478	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	23267900	55681478	79325038	36	13736											
ATM	472	broad.mit.edu	37	11	108143569	108143572	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:108143569_108143572delTCAA	uc001pkb.1	+	21	3659_3662	c.3274_3277delTCAA	c.(3274-3279)tcaatcfs	p.S1092fs	ATM_uc009yxr.1_Frame_Shift_Del_p.S1092fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1092					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			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)		GGCTGCAGAGTCAATCAATAGGTA	0.363			"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)			-	108143572	TCAA	-	108143569	7	5	198	1	0	1	0	1	0	0	0	0	1109	1667	58	0	3356	0	ATM	11	108143569	Frame_Shift_Del	DEL	TCAA	TCGA-27-2528-01A-01D-1494-08	52462091	108143569	26862947	37	13737											
FOXM1	2305	broad.mit.edu	37	12	2975658	2975658	+	Silent	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:2975658G>A	uc001qlf.3	-	4	1159	c.876C>T	c.(874-876)caC>caT	p.H292H	FOXM1_uc001qle.3_Silent_p.H292H|FOXM1_uc009zea.3_Silent_p.H291H|FOXM1_uc009zeb.3_Silent_p.H291H|FOXM1_uc001qlg.3_Silent_p.H292H	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	292					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAAACATGTCGTGCAGGGAAA	0.502													A	2975658	G	A	2975658	2	1	198	1	0	0	0	0	0	0	0	1	6018	1136	40	1		1	FOXM1	12	2975658	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08		2975658	130876237	38	13738											
FAM90A1	55138	broad.mit.edu	37	12	8376154	8376154	+	Splice_Site	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:8376154C>T	uc001qui.2	-	6	883	c.324_splice	c.e6-1	p.R108_splice	FAM90A1_uc001quh.2_Splice_Site_p.R108_splice	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	108							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTCTTGTGGCCTGCAGAACAG	0.542													T	8376154	C	T	8376154	5	4	198	1	0	0	0	0	0	0	1	0	5650	695	24	3	1079	3	FAM90A1	12	8376154	Splice_Site	SNP	C	TCGA-27-2528-01A-01D-1494-08	5400496	8376154	125475741	39	13739											
PTPRO	5800	broad.mit.edu	37	12	15650274	15650274	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:15650274G>A	uc001rcv.2	+	2	915	c.445G>A	c.(445-447)Gtt>Att	p.V149I	PTPRO_uc001rcw.2_Missense_Mutation_p.V149I|PTPRO_uc001rcu.2_Missense_Mutation_p.V149I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	149	Fibronectin type-III 2.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAATATAACGTTTTCACAAG	0.378													A	15650274	G	A	15650274	3	1	198	1	0	0	0	0	1	0	0	0	12809	1145	40	1	455	1	PTPRO	12	15650274	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	7274120	15650274	118201621	40	13740											
ANP32D	23519	broad.mit.edu	37	12	48866783	48866783	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:48866783A>C	uc010slt.2	+	0	336	c.336A>C	c.(334-336)ttA>ttC	p.L112F		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	112								p.L112_E113>*(2)		central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGAAAAAGTTAGAAAACCTCG	0.408													C	48866783	A	C	48866783	3	2	198	1	0	0	0	0	1	0	0	0	708	417	15	5	338	5	ANP32D	12	48866783	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	33216509	48866783	84985112	41	13741											
NR4A1	3164	broad.mit.edu	37	12	52451031	52451031	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:52451031G>A	uc001rzs.3	+	5	1668	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	NR4A1_uc010sno.2_Missense_Mutation_p.R463H|NR4A1_uc001rzt.3_Missense_Mutation_p.R450H|NR4A1_uc009zmc.3_Missense_Mutation_p.A64T	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	450	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TTCATCCTCCGCCTGGCGTAC	0.612													A	52451031	G	A	52451031	3	1	198	1	0	0	0	0	1	0	0	0	10632	1087	38	1	1363	1	NR4A1	12	52451031	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	3584248	52451031	81400864	42	13742											
EFS	10278	broad.mit.edu	37	14	23829158	23829158	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr14:23829158C>T	uc001wjo.3	-	3	1137	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	EFS_uc001wjp.3_Missense_Mutation_p.A84T|EFS_uc010tnm.2_Missense_Mutation_p.A84T	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	177	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCTGCGGGGCAACCCGGGTC	0.652													T	23829158	C	T	23829158	3	4	198	1	0	0	0	0	1	0	0	0	4959	710	25	3	1168	3	EFS	14	23829158	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		23829158	83520382	43	13743											
CPPED1	55313	broad.mit.edu	37	16	12798557	12798557	+	Silent	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr16:12798557G>A	uc002dca.4	-	2	750	c.639C>T	c.(637-639)atC>atT	p.I213I	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	213							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CGTCCTCGTCGATGCTCTCCA	0.602													A	12798557	G	A	12798557	2	1	198	1	0	0	0	0	0	0	0	1	3822	1048	37	2		2	CPPED1	16	12798557	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08		12798557	77556196	44	13744											
EFNB3	1949	broad.mit.edu	37	17	7612770	7612770	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:7612770G>A	uc002gis.3	+	4	1296	c.899G>A	c.(898-900)gGc>gAc	p.G300D		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	300					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGCGGGGTGGCGGGGCTGCA	0.667													A	7612770	G	A	7612770	3	1	198	1	0	0	0	0	1	0	0	0	4957	1203	42	3	917	3	EFNB3	17	7612770	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		7612770	73582440	45	13745											
DNAH2	146754	broad.mit.edu	37	17	7626952	7626952	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:7626952G>A	uc002giu.1	+	1	187	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	DNAH2_uc002git.3_Missense_Mutation_p.R58Q|DNAH2_uc010vuk.2_Missense_Mutation_p.R58Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	58	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTAGAGCCACGGTTGGAGGGA	0.512													A	7626952	G	A	7626952	3	1	198	1	0	0	0	0	1	0	0	0	4602	1116	39	2	179	2	DNAH2	17	7626952	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	14182	7626952	73568258	46	13746											
ULK2	9706	broad.mit.edu	37	17	19705231	19705231	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:19705231C>T	uc002gwm.4	-	15	1809	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	ULK2_uc002gwn.3_Missense_Mutation_p.A434T	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	434					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CGTACCACTGCAGATCTGAAA	0.468													T	19705231	C	T	19705231	3	4	198	1	0	0	0	0	1	0	0	0	16973	710	25	3	1858	3	ULK2	17	19705231	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	12078279	19705231	61489979	47	13747											
UNC45B	146862	broad.mit.edu	37	17	33482349	33482349	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:33482349G>A	uc002hja.3	+	6	771	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	UNC45B_uc002hjb.3_Missense_Mutation_p.R225Q|UNC45B_uc002hjc.3_Missense_Mutation_p.R225Q|UNC45B_uc010cto.3_Missense_Mutation_p.R225Q	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	225					cell differentiation|muscle organ development	cytosol	binding	p.R225Q(2)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGGATAGACCGAATCTGTAGC	0.562													A	33482349	G	A	33482349	3	1	198	1	0	0	0	0	1	0	0	0	16986	1058	37	2	696	2	UNC45B	17	33482349	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	13777118	33482349	47712861	48	13748											
RNF43	54894	broad.mit.edu	37	17	56439918	56439918	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:56439918C>T	uc002iwf.3	-	4	2630	c.674G>A	c.(673-675)cGc>cAc	p.R225H	RNF43_uc010wnv.2_Missense_Mutation_p.R184H|RNF43_uc002iwh.4_Missense_Mutation_p.R225H|RNF43_uc002iwg.4_Missense_Mutation_p.R225H|RNF43_uc010dcw.3_Missense_Mutation_p.R98H	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	225				R -> H (in Ref. 2; BAH12429).		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGCTGTGGCGGGGGCGGCA	0.597													T	56439918	C	T	56439918	3	4	198	1	0	0	0	0	1	0	0	0	13495	768	27	1	1697	1	RNF43	17	56439918	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	22957569	56439918	24755292	49	13749											
BPTF	2186	broad.mit.edu	37	17	65889572	65889572	+	Silent	SNP	T	T	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:65889572T>C	uc002jgf.3	+	5	2203	c.2142T>C	c.(2140-2142)ttT>ttC	p.F714F	BPTF_uc002jge.3_Silent_p.F840F|BPTF_uc010wqm.1_Silent_p.F777F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	840	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAATTATTTTAAATTGGGTC	0.373													C	65889572	T	C	65889572	2	2	198	1	0	0	0	0	0	0	0	1	1495	1751	61	4		4	BPTF	17	65889572	Silent	SNP	T	TCGA-27-2528-01A-01D-1494-08	9449654	65889572	15305638	50	13750											
DSC1	1823	broad.mit.edu	37	18	28736074	28736074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:28736074G>A	uc002kwn.3	-	3	665	c.403C>T	c.(403-405)Cga>Tga	p.R135*	DSC1_uc002kwm.3_Nonsense_Mutation_p.R135*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	135	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGAGCCCATCGTCTCTTGCTG	0.413													A	28736074	G	A	28736074	4	1	198	1	0	0	0	0	0	1	0	0	4765	1153	40	1	2373	1	DSC1	18	28736074	Nonsense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		28736074	49341174	51	13751											
ALPK2	115701	broad.mit.edu	37	18	56171191	56171191	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:56171191A>C	uc002lhj.4	-	10	6433	c.6219T>G	c.(6217-6219)agT>agG	p.S2073R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2073	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGGCAGCCACTTGTTTTCT	0.522													C	56171191	A	C	56171191	3	2	198	1	0	0	0	0	1	0	0	0	545	156	6	5	305	5	ALPK2	18	56171191	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	27435117	56171191	21906057	52	13752											
SERPINB2	5273	broad.mit.edu	37	18	61585273	61585273	+	Silent	SNP	C	C	T	rs61761878	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:61585273C>T	uc010xev.2	+	3	399	c.309C>T	c.(307-309)aaC>aaT	p.N103N	SERPINB2_uc010xew.2_Silent_p.N103N	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	118					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAAGCCCAACGATGACTACT	0.353													T	61585273	C	T	61585273	2	4	198	1	0	0	0	0	0	0	0	1	14101	535	19	1		1	SERPINB2	18	61585273	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08	5414082	61585273	16491975	53	13753											
C3	718	broad.mit.edu	37	19	6681977	6681977	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr19:6681977T>G	uc002mfm.3	-	34	4387	c.4325A>C	c.(4324-4326)aAc>aCc	p.N1442T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1442	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GATGAGGGTGTTCCTATCGGA	0.532													G	6681977	T	G	6681977	3	3	198	1	0	0	0	0	1	0	0	0	2204	1725	60	5	694	5	C3	19	6681977	Missense_Mutation	SNP	T	TCGA-27-2528-01A-01D-1494-08		6681977	52447006	54	13754											
LILRA1	11027	broad.mit.edu	37	19	55086977	55086977	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr19:55086977G>A	uc010ern.3	+	5	1379	c.910G>A	c.(910-912)Gag>Aag	p.E304K	LILRA1_uc002qgg.4_Missense_Mutation_p.E304K|LILRA1_uc002qgf.3_Missense_Mutation_p.E304K|LILRA1_uc010yfe.1_Missense_Mutation_p.E304K|LILRA1_uc010yff.1_Missense_Mutation_p.E292K|LILRA1_uc010ero.3_Missense_Mutation_p.E292K|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	306	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTCTCCTCCGAGTGGTCGGC	0.677													A	55086977	G	A	55086977	3	1	198	1	0	0	0	0	1	0	0	0	8784	1059	37	2		2	LILRA1	19	55086977	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	48405000	55086977	4042006	55	13755											
NTSR1	4923	broad.mit.edu	37	20	61386135	61386135	+	Silent	SNP	C	C	T			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr20:61386135C>T	uc002ydf.3	+	1	1184	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	271						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.A270S(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)			GCCAGGCGGCCGAGCAGGGCC	0.632													T	61386135	C	T	61386135	2	4	198	1	0	0	0	0	0	0	0	1	10710	639	23	2		2	NTSR1	20	61386135	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08		61386135	1639385	56	13756											
CXorf22	170063	broad.mit.edu	37	X	35938122	35938122	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chrX:35938122G>A	uc004ddj.3	+	0	272	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	69										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATATTTGCCGCTGGAACCAG	0.582													A	35938122	G	A	35938122	3	1	198	1	0	0	0	0	1	0	0	0	4102	1087	38	1	208	1	CXorf22	23	35938122	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		35938122	119332438	57	13757											
CLCA1	1179	broad.mit.edu	37	1	86954794	86954794	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:86954794A>G	uc001dlt.3	+	7	1558	c.1298A>G	c.(1297-1299)cAc>cGc	p.H433R	CLCA1_uc001dls.1_Missense_Mutation_p.H372R	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	433	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.I432I(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCCATCATCCACACAGTCGCT	0.498													G	86954794	A	G	86954794	3	3	199	1	0	0	0	0	1	0	0	0	3457	159	6	4	1328	4	CLCA1	1	86954794	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08		86954794	162295827	1	13758											
DCLRE1B	64858	broad.mit.edu	37	1	114454356	114454356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:114454356G>A	uc001eeg.3	+	3	1436	c.1142G>A	c.(1141-1143)tGg>tAg	p.W381*	DCLRE1B_uc001eeh.3_Nonsense_Mutation_p.W255*|DCLRE1B_uc001eei.3_Nonsense_Mutation_p.W255*	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	381					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCTCCCTGGCCTGCGGAC	0.483								Other identified genes with known or suspected DNA repair function					A	114454356	G	A	114454356	4	1	199	1	0	0	0	0	0	1	0	0	4295	1357	47	3	1156	3	DCLRE1B	1	114454356	Nonsense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	27499562	114454356	134796265	2	13759											
HMCN1	83872	broad.mit.edu	37	1	186120829	186120829	+	Silent	SNP	C	C	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:186120829C>A	uc001grq.1	+	94	15079	c.14850C>A	c.(14848-14850)ctC>ctA	p.L4950L	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.L519L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4950	Nidogen G2 beta-barrel.				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						GCTTTACCCTCACCAATGCAG	0.348													A	186120829	C	A	186120829	2	1	199	1	0	0	0	0	0	0	0	1	7220	813	29	5		5	HMCN1	1	186120829	Silent	SNP	C	TCGA-28-1747-01C-01D-1494-08	71666473	186120829	63129792	3	13760											
PLA2G4A	5321	broad.mit.edu	37	1	186948519	186948519	+	Missense_Mutation	SNP	T	T	G			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:186948519T>G	uc001gsc.3	+	16	2238	c.2033T>G	c.(2032-2034)tTt>tGt	p.F678C	PLA2G4A_uc010pos.2_Missense_Mutation_p.F618C	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	678	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GAATCACCATTTTCAACCTTC	0.358													G	186948519	T	G	186948519	3	3	199	1	0	0	0	0	1	0	0	0	12001	1841	64	5	2095	5	PLA2G4A	1	186948519	Missense_Mutation	SNP	T	TCGA-28-1747-01C-01D-1494-08	827690	186948519	62302102	4	13761											
IL18R1	8809	broad.mit.edu	37	2	102988458	102988459	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:102988458_102988459delAC	uc002tbw.4	+	3	498_499	c.348_349delAC	c.(346-351)aaacacfs	p.K116fs	IL18R1_uc010ywb.1_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywd.2_5'UTR|IL18R1_uc010fiy.3_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywc.2_Frame_Shift_Del_p.K116fs	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	116	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGAAATAAACACAGCTGTTT	0.277													-	102988459	AC	-	102988458	7	5	199	1	0	1	0	1	0	0	0	0	7647	40	2	0	358	0	IL18R1	2	102988458	Frame_Shift_Del	DEL	AC	TCGA-28-1747-01C-01D-1494-08		102988458	140210915	5	13762											
CALCRL	10203	broad.mit.edu	37	2	188223966	188223966	+	Missense_Mutation	SNP	A	A	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:188223966A>T	uc010frt.3	-	9	1198	c.815T>A	c.(814-816)aTt>aAt	p.I272N	CALCRL_uc002upv.4_Missense_Mutation_p.I272N	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	272						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCTTCTAGCAATGGCATGTAT	0.244													T	188223966	A	T	188223966	3	4	199	1	0	0	0	0	1	0	0	0	2580	101	4	5	590	5	CALCRL	2	188223966	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08	85235508	188223966	54975407	6	13763											
BMPR2	659	broad.mit.edu	37	2	203397336	203397336	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:203397336A>G	uc002uzf.4	+	8	2305	c.1157A>G	c.(1156-1158)gAa>gGa	p.E386G	BMPR2_uc010ftr.3_Missense_Mutation_p.E386G	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	386	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATGGCACCAGAAGTGCTAGAA	0.383													G	203397336	A	G	203397336	3	3	199	1	0	0	0	0	1	0	0	0	1471	246	9	4	1191	4	BMPR2	2	203397336	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08	15173370	203397336	39802037	7	13764											
SCG2	7857	broad.mit.edu	37	2	224463759	224463759	+	Missense_Mutation	SNP	T	T	C			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:224463759T>C	uc021vxk.1	-	0	242	c.242A>G	c.(241-243)tAc>tGc	p.Y81C	SCG2_uc002vnm.3_Missense_Mutation_p.Y81C	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	81					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACACCTTGGTAGGGATTATA	0.448													C	224463759	T	C	224463759	3	2	199	1	0	0	0	0	1	0	0	0	13891	1638	57	4	1615	4	SCG2	2	224463759	Missense_Mutation	SNP	T	TCGA-28-1747-01C-01D-1494-08	21066423	224463759	18735614	8	13765											
OR5K4	403278	broad.mit.edu	37	3	98072818	98072818	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr3:98072818G>A	uc011bgv.2	+	0	121	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41W(2)|p.V40V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CACCATGGTGGGGAATCTTGG	0.458													A	98072818	G	A	98072818	3	1	199	1	0	0	0	0	1	0	0	0	11169	1232	43	3	123	3	OR5K4	3	98072818	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		98072818	99949612	9	13766											
ADAM29	11086	broad.mit.edu	37	4	175897608	175897608	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr4:175897608G>A	uc003iuc.3	+	4	1602	c.932G>A	c.(931-933)cGt>cAt	p.R311H	ADAM29_uc003iud.3_Missense_Mutation_p.R311H|ADAM29_uc010irr.3_Missense_Mutation_p.R311H|ADAM29_uc011cki.2_Missense_Mutation_p.R311H|ADAM29_uc021xuo.1_Missense_Mutation_p.R311H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	311	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACCACACCGTAGTTGTGCA	0.428													A	175897608	G	A	175897608	3	1	199	1	0	0	0	0	1	0	0	0	247	1145	40	1	934	1	ADAM29	4	175897608	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		175897608	15256668	10	13767											
SLC6A3	6531	broad.mit.edu	37	5	1409844	1409844	+	Missense_Mutation	SNP	C	C	T	rs140401978		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:1409844C>T	uc003jck.3	-	9	1516	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	464					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ACGTTGGTGACGCAGAACAGG	0.612													T	1409844	C	T	1409844	3	4	199	1	0	0	0	0	1	0	0	0	14685	536	19	1	496	1	SLC6A3	5	1409844	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		1409844	179505416	11	13768											
ZFYVE16	9765	broad.mit.edu	37	5	79768699	79768699	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:79768699G>A	uc003kgr.4	+	15	4446	c.4144G>A	c.(4144-4146)Gtg>Atg	p.V1382M	ZFYVE16_uc003kgq.4_Missense_Mutation_p.V1382M|ZFYVE16_uc003kgs.4_Missense_Mutation_p.V1382M|ZFYVE16_uc003kgt.4_Missense_Mutation_p.V470M|ZFYVE16_uc003kgu.4_Missense_Mutation_p.V134M	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	1382					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GAGAGAATACGTGGATATCTG	0.368													A	79768699	G	A	79768699	3	1	199	1	0	0	0	0	1	0	0	0	17661	1145	40	1	4198	1	ZFYVE16	5	79768699	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	78358855	79768699	101146561	12	13769											
ACOT12	134526	broad.mit.edu	37	5	80643625	80643625	+	Silent	SNP	C	C	T	rs150238683	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:80643625C>T	uc003khl.4	-	5	676	c.621G>A	c.(619-621)gcG>gcA	p.A207A	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	207	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCTCCATCCACGCCATAATCT	0.502													T	80643625	C	T	80643625	2	4	199	1	0	0	0	0	0	0	0	1	150	523	19	1		1	ACOT12	5	80643625	Silent	SNP	C	TCGA-28-1747-01C-01D-1494-08	874926	80643625	100271635	13	13770											
PCSK1	5122	broad.mit.edu	37	5	95735874	95735874	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:95735874G>A	uc003kls.2	-	9	1452	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	PCSK1_uc010jbi.2_Nonsense_Mutation_p.R95*|PCSK1_uc021ybq.1_Nonsense_Mutation_p.R358*	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	405	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R405Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCATATCTCGCCAGGTGAGA	0.478													A	95735874	G	A	95735874	4	1	199	1	0	0	0	0	0	1	0	0	11600	1095	38	1	1068	1	PCSK1	5	95735874	Nonsense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	15092249	95735874	85179386	14	13771											
PCDHAC2	9752	broad.mit.edu	37	5	140230084	140230084	+	Silent	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:140230084G>A	uc003lhu.2	+	0	2728	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S668S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	679	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGTGTCGCTGGTGGAGA	0.677													A	140230084	G	A	140230084	2	1	199	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140230084	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	44494210	140230084	40685176	15	13772											
PCDHGC5	26025	broad.mit.edu	37	5	140811313	140811313	+	Silent	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:140811313G>A	uc003lkt.2	+	0	1156	c.987G>A	c.(985-987)gcG>gcA	p.A329A	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.A329A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	332	Cadherin 3.				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)			GATATTCTGCGCGAGCCAAAG	0.512													A	140811313	G	A	140811313	2	1	199	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHGC5	5	140811313	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	581229	140811313	40103947	16	13773											
FAM50B	26240	broad.mit.edu	37	6	3850733	3850733	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr6:3850733G>A	uc003mvu.3	+	1	800	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	FAM50B_uc021ykt.1_Missense_Mutation_p.A230T	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	230						nucleus		p.A230A(1)|p.S229F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCTGCGCTCCGCCGGCGTGGA	0.652													A	3850733	G	A	3850733	3	1	199	1	0	0	0	0	1	0	0	0	5578	1087	38	1	690	1	FAM50B	6	3850733	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		3850733	167264334	17	13774											
GPX5	2880	broad.mit.edu	37	6	28497327	28497327	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr6:28497327C>T	uc003nll.2	+	1	189	c.187C>T	c.(187-189)Cac>Tac	p.H63Y	GPX5_uc003nlm.2_Missense_Mutation_p.H63Y|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	63					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGTGGGCAAGCACATCCTCTT	0.443													T	28497327	C	T	28497327	3	4	199	1	0	0	0	0	1	0	0	0	6743	710	25	3	193	3	GPX5	6	28497327	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	24646594	28497327	142617740	18	13775											
DNAH11	8701	broad.mit.edu	37	7	21658736	21658736	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:21658736G>A	uc003svc.3	+	23	4319	c.4288G>A	c.(4288-4290)Gaa>Aaa	p.E1430K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1430	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTAATAAATGAAGCCACAAC	0.418									Kartagener syndrome				A	21658736	G	A	21658736	3	1	199	1	0	0	0	0	1	0	0	0	4599	1291	45	3	4382	3	DNAH11	7	21658736	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		21658736	137479927	19	13776											
EGFR	1956	broad.mit.edu	37	7	55211079	55211079	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55211079A>G	uc003tqk.3	+	2	568	c.322A>G	c.(322-324)Aga>Gga	p.R108G	EGFR_uc003tqh.3_Missense_Mutation_p.R108G|EGFR_uc003tqi.3_Missense_Mutation_p.R108G|EGFR_uc003tqj.3_Missense_Mutation_p.R108G|EGFR_uc022adm.1_Missense_Mutation_p.R108G|EGFR_uc010kzg.2_Missense_Mutation_p.R108G|EGFR_uc022adn.1_Missense_Mutation_p.R108G|EGFR_uc011kco.2_Missense_Mutation_p.R55G	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCAGATCATCAGAGGAAATAT	0.418		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55211079	A	G	55211079	3	3	199	1	0	0	0	0	1	0	0	0	4967	180	7	4	332	4	EGFR	7	55211079	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08	33552343	55211079	103927584	20	13777											
EGFR	1956	broad.mit.edu	37	7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55223543C>T	uc003tqk.3	+	7	1156	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	304					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGACAGATCACGGCTCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55223543	C	T	55223543	3	4	199	1	0	0	0	0	1	0	0	0	4967	826	29	3	940	3	EGFR	7	55223543	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	12464	55223543	103915120	21	13778											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	199	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	9500	55233043	103905620	22	13779											
PCLO	27445	broad.mit.edu	37	7	82585035	82585035	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:82585035G>A	uc003uhx.2	-	4	5523	c.5234C>T	c.(5233-5235)cCg>cTg	p.P1745L	PCLO_uc003uhv.2_Missense_Mutation_p.P1745L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1676					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						TTTGTGACTCGGGCTACTGTC	0.488													A	82585035	G	A	82585035	3	1	199	1	0	0	0	0	1	0	0	0	11583	1116	39	2	10295	2	PCLO	7	82585035	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	27351992	82585035	76553628	23	13780											
DYNC1I1	1780	broad.mit.edu	37	7	95442583	95442583	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:95442583C>T	uc003uoc.4	+	3	576	c.299C>T	c.(298-300)tCg>tTg	p.S100L	DYNC1I1_uc003uod.4_Missense_Mutation_p.S83L|DYNC1I1_uc003uob.3_Missense_Mutation_p.S83L|DYNC1I1_uc003uoe.4_Missense_Mutation_p.S100L|DYNC1I1_uc010lfl.3_Missense_Mutation_p.S89L	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	100	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.S100S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTCCCTCCTCGAAATCAGTG	0.468													T	95442583	C	T	95442583	3	4	199	1	0	0	0	0	1	0	0	0	4842	893	31	2	309	2	DYNC1I1	7	95442583	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	12857548	95442583	63696080	24	13781											
OR2A7	401427	broad.mit.edu	37	7	143956670	143956670	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:143956670C>T	uc011kuc.2	-	0	52	c.52G>A	c.(52-54)Gtt>Att	p.V18I	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P17S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CTTGGGCCAACGGGAAATCCC	0.498													T	143956670	C	T	143956670	3	4	199	1	0	0	0	0	1	0	0	0	10982	536	19	1	883	1	OR2A7	7	143956670	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	48514087	143956670	15181993	25	13782											
MTUS1	57509	broad.mit.edu	37	8	17503489	17503489	+	Missense_Mutation	SNP	C	C	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr8:17503489C>A	uc003wxv.3	-	14	4233	c.3759G>T	c.(3757-3759)ttG>ttT	p.L1253F	MTUS1_uc003wxt.3_Missense_Mutation_p.L500F|MTUS1_uc011kyg.2_Missense_Mutation_p.L398F|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.L1199F|MTUS1_uc003wxs.3_Missense_Mutation_p.L419F	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	1253						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTGGTGACTGCAAAGGGATGG	0.537													A	17503489	C	A	17503489	3	1	199	1	0	0	0	0	1	0	0	0	9965	709	25	5	57	5	MTUS1	8	17503489	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		17503489	128860533	26	13783											
TG	7038	broad.mit.edu	37	8	133925395	133925395	+	Silent	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr8:133925395C>T	uc003ytw.3	+	19	4304	c.4263C>T	c.(4261-4263)acC>acT	p.T1421T	TG_uc010mdw.3_Silent_p.T180T	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1421					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			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)		CAGCGGAAACCATCCGCTTCC	0.562													T	133925395	C	T	133925395	2	4	199	1	0	0	0	0	0	0	0	1	15810	581	21	3		3	TG	8	133925395	Silent	SNP	C	TCGA-28-1747-01C-01D-1494-08	116421906	133925395	12438627	27	13784											
AKNA	80709	broad.mit.edu	37	9	117099371	117099371	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr9:117099371C>T	uc004biq.3	-	20	4418	c.4283G>A	c.(4282-4284)cGc>cAc	p.R1428H	AKNA_uc004bin.3_Missense_Mutation_p.R675H|AKNA_uc004bio.3_Missense_Mutation_p.R888H|AKNA_uc004bip.3_Missense_Mutation_p.R1347H|AKNA_uc004bir.3_Missense_Mutation_p.R1428H|AKNA_uc004bis.3_Missense_Mutation_p.R1428H|AKNA_uc010mve.2_Missense_Mutation_p.R1309H	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGAGCCTGGCGCAGGTCGGC	0.682													T	117099371	C	T	117099371	3	4	199	1	0	0	0	0	1	0	0	0	463	768	27	1	40	1	AKNA	9	117099371	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		117099371	24114060	28	13785											
ALX4	60529	broad.mit.edu	37	11	44297101	44297101	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:44297101delC	uc001myb.3	-	1	678	c.574delG	c.(574-576)gacfs	p.D192fs		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	192					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGGCCCGGTCCTGGGGCCCC	0.632													-	44297101	C	-	44297101	7	5	199	1	0	1	0	1	0	0	0	0	558	855	30	0	673	0	ALX4	11	44297101	Frame_Shift_Del	DEL	C	TCGA-28-1747-01C-01D-1494-08		44297101	90709415	29	13786											
NCAM1	4684	broad.mit.edu	37	11	113076266	113076266	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:113076266C>T	uc021qqp.1	+	3	734	c.362C>T	c.(361-363)gCg>gTg	p.A121V	NCAM1_uc001pno.3_Missense_Mutation_p.A5V|NCAM1_uc001pnp.3_Missense_Mutation_p.A121V|NCAM1_uc021qqo.1_Missense_Mutation_p.A121V|NCAM1_uc001pnq.3_Missense_Mutation_p.A121V|NCAM1_uc001pnr.3_Missense_Mutation_p.A121V	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	123	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				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)		TTCAAGAATGCGCCAACCCCA	0.522													T	113076266	C	T	113076266	3	4	199	1	0	0	0	0	1	0	0	0	10202	768	27	1	383	1	NCAM1	11	113076266	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	68779165	113076266	21930250	30	13787											
FAM55A	120400	broad.mit.edu	37	11	114400948	114400948	+	Missense_Mutation	SNP	C	C	T	rs150857743	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:114400948C>T	uc001ppa.3	-	2	773	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.R261Q	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	261						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		CTCTCTATTCCGGGTGGTCAT	0.458													T	114400948	C	T	114400948	3	4	199	1	0	0	0	0	1	0	0	0	5584	652	23	2	877	2	FAM55A	11	114400948	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	1324682	114400948	20605568	31	13788											
CD163L1	283316	broad.mit.edu	37	12	7531814	7531814	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr12:7531814C>T	uc010sge.2	-	8	2187	c.2161G>A	c.(2161-2163)Gtg>Atg	p.V721M	CD163L1_uc001qsy.3_Missense_Mutation_p.V711M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	711	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAATTCCCACGGCACCCTGG	0.502													T	7531814	C	T	7531814	3	4	199	1	0	0	0	0	1	0	0	0	2968	536	19	1	2274	1	CD163L1	12	7531814	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		7531814	126320081	32	13789											
PPM1H	57460	broad.mit.edu	37	12	63195712	63195712	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr12:63195712C>T	uc001srk.3	-	2	789	c.640G>A	c.(640-642)Gga>Aga	p.G214R		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	214	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CCCACCCCTCCGCGCAGGGAG	0.682													T	63195712	C	T	63195712	3	4	199	1	0	0	0	0	1	0	0	0	12341	661	23	2	936	2	PPM1H	12	63195712	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	55663898	63195712	70656183	33	13790											
ATP11A	23250	broad.mit.edu	37	13	113527920	113527920	+	Missense_Mutation	SNP	A	A	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr13:113527920A>T	uc001vsj.4	+	26	3179	c.3091A>T	c.(3091-3093)Aac>Tac	p.N1031Y	ATP11A_uc001vsi.4_Missense_Mutation_p.N1031Y|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	1031					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GACTTGGATCAACCATTTTGT	0.448											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	113527920	A	T	113527920	3	4	199	1	0	0	0	0	1	0	0	0	1119	130	5	5	3197	5	ATP11A	13	113527920	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08		113527920	1641958	34	13791											
AK7	122481	broad.mit.edu	37	14	96953242	96953242	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr14:96953242G>A	uc001yfn.2	+	16	2026	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	661	Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TAGAATAAACGACTGGAGGAA	0.393													A	96953242	G	A	96953242	3	1	199	1	0	0	0	0	1	0	0	0	444	1058	37	2	2048	2	AK7	14	96953242	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		96953242	10396298	35	13792											
RYR3	6263	broad.mit.edu	37	15	33944995	33944995	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:33944995G>A	uc001zhi.3	+	31	4289	c.4219G>A	c.(4219-4221)Gtg>Atg	p.V1407M	RYR3_uc010bar.3_Missense_Mutation_p.V1407M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1407	4 X approximate repeats.|B30.2/SPRY 3.				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)		TCGGAGCAACGTGGACCTGGA	0.557													A	33944995	G	A	33944995	3	1	199	1	0	0	0	0	1	0	0	0	13770	1145	40	1	4345	1	RYR3	15	33944995	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		33944995	68586397	36	13793											
ZSCAN29	146050	broad.mit.edu	37	15	43658464	43658464	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:43658464C>T	uc001zrk.1	-	2	1213	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	ZSCAN29_uc001zrj.1_Missense_Mutation_p.D236N|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.D355N|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.D355N	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	356					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		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;8.97e-07)		GTCTCAGCATCGCTGCCTACC	0.572													T	43658464	C	T	43658464	3	4	199	1	0	0	0	0	1	0	0	0	18233	884	31	2	1504	2	ZSCAN29	15	43658464	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	9713469	43658464	58872928	37	13794											
SLC28A2	9153	broad.mit.edu	37	15	45555359	45555359	+	Silent	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:45555359G>A	uc001zva.2	+	4	428	c.363G>A	c.(361-363)tcG>tcA	p.S121S		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	121					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TGGTTCACTCGTTTTTGAAAA	0.458													A	45555359	G	A	45555359	2	1	199	1	0	0	0	0	0	0	0	1	14532	1132	40	1		1	SLC28A2	15	45555359	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	1896895	45555359	56976033	38	13795											
GRIN2A	2903	broad.mit.edu	37	16	10273879	10273879	+	Silent	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr16:10273879G>A	uc010uym.2	-	2	700	c.390C>T	c.(388-390)ggC>ggT	p.G130G	GRIN2A_uc002czo.4_Silent_p.G130G|GRIN2A_uc002czr.4_Silent_p.G130G|GRIN2A_uc010buk.3_Silent_p.G130G	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	130					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.G130C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATAGATGCGCCCCCATGAA	0.597													A	10273879	G	A	10273879	2	1	199	1	0	0	0	0	0	0	0	1	6779	1074	38	1		1	GRIN2A	16	10273879	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08		10273879	80080874	39	13796											
HS3ST3A1	9955	broad.mit.edu	37	17	13400088	13400088	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:13400088G>A	uc002gob.1	-	1	1445	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	216	Substrate binding.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	p.T216T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTAACTGGGCGTCTTCTCCAT	0.622													A	13400088	G	A	13400088	3	1	199	1	0	0	0	0	1	0	0	0	7365	1145	40	1	577	1	HS3ST3A1	17	13400088	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		13400088	67795122	40	13797											
HEXIM1	10614	broad.mit.edu	37	17	43226653	43226653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:43226653delC	uc002iig.3	+	0	1970	c.96delC	c.(94-96)cgcfs	p.R32fs		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	32					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCTGAGCGCCCCCCAGGCG	0.632											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	43226653	C	-	43226653	7	5	199	1	0	1	0	1	0	0	0	0	7076	726	26	0	98	0	HEXIM1	17	43226653	Frame_Shift_Del	DEL	C	TCGA-28-1747-01C-01D-1494-08	29826565	43226653	37968557	41	13798											
ABCA9	10350	broad.mit.edu	37	17	67016638	67016638	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:67016638C>T	uc002jhu.3	-	18	2634	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	ABCA9_uc010dez.3_Missense_Mutation_p.E831K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	831					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCCTTGTTTCGTGGAAGGAA	0.413													T	67016638	C	T	67016638	3	4	199	1	0	0	0	0	1	0	0	0	39	893	31	2	2467	2	ABCA9	17	67016638	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	23789985	67016638	14178572	42	13799											
LIPG	9388	broad.mit.edu	37	18	47101837	47101837	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr18:47101837C>T	uc002ldv.3	+	4	922	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	LIPG_uc002ldu.1_Missense_Mutation_p.R224C|LIPG_uc010xdh.2_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	224					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTACACGCGTTCCTTCGG	0.557													T	47101837	C	T	47101837	3	4	199	1	0	0	0	0	1	0	0	0	8823	768	27	1	688	1	LIPG	18	47101837	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		47101837	30975411	43	13800											
MUC16	94025	broad.mit.edu	37	19	9073488	9073488	+	Missense_Mutation	SNP	G	G	T			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:9073488G>T	uc002mkp.3	-	2	14162	c.13958C>A	c.(13957-13959)aCa>aAa	p.T4653K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4655	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						TGGGAACTTTGTTGACTGAGC	0.458													T	9073488	G	T	9073488	3	4	199	1	0	0	0	0	1	0	0	0	9973	1377	48	5	29893	5	MUC16	19	9073488	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		9073488	50055495	44	13801											
GRAMD1A	57655	broad.mit.edu	37	19	35500871	35500871	+	Missense_Mutation	SNP	T	T	C			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:35500871T>C	uc010xsf.1	+	3	335	c.335T>C	c.(334-336)aTt>aCt	p.I112T	GRAMD1A_uc002nxi.1_Missense_Mutation_p.I194T|GRAMD1A_uc010xse.1_Missense_Mutation_p.I107T|GRAMD1A_uc002nxk.2_Missense_Mutation_p.I100T|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	107	GRAM.					integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAACGCCTCATTGTGGGTGAG	0.607													C	35500871	T	C	35500871	3	2	199	1	0	0	0	0	1	0	0	0	6747	1493	52	4	334	4	GRAMD1A	19	35500871	Missense_Mutation	SNP	T	TCGA-28-1747-01C-01D-1494-08	26427383	35500871	23628112	45	13802											
ZNF610	162963	broad.mit.edu	37	19	52868955	52868955	+	Silent	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:52868955G>A	uc002pyx.4	+	5	730	c.324G>A	c.(322-324)agG>agA	p.R108R	ZNF610_uc002pyy.4_Silent_p.R108R|ZNF610_uc002pyz.4_Silent_p.R65R|ZNF610_uc002pza.3_Silent_p.R108R	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTCTAGGGAGGAGCTGTGTAT	0.453													A	52868955	G	A	52868955	2	1	199	1	0	0	0	0	0	0	0	1	18033	1165	41	3		3	ZNF610	19	52868955	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	17368084	52868955	6260028	46	13803											
PTPRH	5794	broad.mit.edu	37	19	55693262	55693262	+	Missense_Mutation	SNP	C	C	T	rs140496718		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:55693262C>T	uc002qjq.3	-	19	3281	c.3208G>A	c.(3208-3210)Gta>Ata	p.V1070I	PTPRH_uc010esv.3_Missense_Mutation_p.V892I|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1070	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		TGCAGGAATACGTACTGAGCC	0.622													T	55693262	C	T	55693262	3	4	199	1	0	0	0	0	1	0	0	0	12803	536	19	1	143	1	PTPRH	19	55693262	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	2824307	55693262	3435721	47	13804											
ANGPT4	51378	broad.mit.edu	37	20	853677	853677	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr20:853677G>A	uc002wei.3	-	8	1541	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	ANGPT4_uc010zpn.2_3'UTR	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	480	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TAGTGCCAGCGGATGCCGTCC	0.587													A	853677	G	A	853677	3	1	199	1	0	0	0	0	1	0	0	0	612	1116	39	2	77	2	ANGPT4	20	853677	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		853677	62171843	48	13805											
MOCS3	27304	broad.mit.edu	37	20	49576424	49576424	+	Missense_Mutation	SNP	G	G	C			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr20:49576424G>C	uc002xvy.1	+	0	1062	c.1045G>C	c.(1045-1047)Gca>Cca	p.A349P	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	349	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GGATTCTGGGGCATTCCACCT	0.552													C	49576424	G	C	49576424	3	2	199	1	0	0	0	0	1	0	0	0	9692	1203	42	5	1047	5	MOCS3	20	49576424	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	48722747	49576424	13449096	49	13806											
TRPM2	7226	broad.mit.edu	37	21	45798938	45798938	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr21:45798938G>A	uc010gpt.1	+	7	1173	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	TRPM2_uc002zet.1_Missense_Mutation_p.R358H|TRPM2_uc002zeu.1_Missense_Mutation_p.R358H|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R358H|TRPM2_uc002zex.1_Missense_Mutation_p.R144H	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	358						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCTCGGGCCGCGTGGCCGAC	0.622													A	45798938	G	A	45798938	3	1	199	1	0	0	0	0	1	0	0	0	16583	1087	38	1	1103	1	TRPM2	21	45798938	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		45798938	2330957	50	13807											
CROCC	9696	broad.mit.edu	37	1	17296756	17296756	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:17296756G>A	uc001azt.2	+	33	5529	c.5460G>A	c.(5458-5460)cgG>cgA	p.R1820R	CROCC_uc001azu.2_Silent_p.R1123R|CROCC_uc001azv.2_Silent_p.R156R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1820					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGTGCTGCGGCAGCGGCAGG	0.657													A	17296756	G	A	17296756	2	1	200	1	0	0	0	0	0	0	0	1	3893	1190	42	3		3	CROCC	1	17296756	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08		17296756	231953865	1	13808											
HCRTR1	3061	broad.mit.edu	37	1	32086485	32086485	+	Silent	SNP	C	C	T	rs140406432		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:32086485C>T	uc009vtx.2	+	4	805	c.420C>T	c.(418-420)atC>atT	p.I140I	HCRTR1_uc001btc.4_Silent_p.I54I|HCRTR1_uc001btd.2_Silent_p.I140I|HCRTR1_uc010ogl.2_Silent_p.I140I	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	140					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TCAGCTTCATCGCCCTGGACC	0.627													T	32086485	C	T	32086485	2	4	200	1	0	0	0	0	0	0	0	1	7001	874	31	2		2	HCRTR1	1	32086485	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	14789729	32086485	217164136	2	13809											
PABPC4	8761	broad.mit.edu	37	1	40038250	40038250	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:40038250C>T	uc001cdl.2	-	1	1100	c.202G>A	c.(202-204)Gct>Act	p.A68T	PABPC4_uc010oiv.1_Missense_Mutation_p.A68T|PABPC4_uc001cdm.2_Missense_Mutation_p.A68T	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	68	RRM 1.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.R67W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGTCCAAAGCCCGCTCAGCT	0.463													T	40038250	C	T	40038250	3	4	200	1	0	0	0	0	1	0	0	0	11366	739	26	3	1836	3	PABPC4	1	40038250	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	7951765	40038250	209212371	3	13810											
CYP4X1	260293	broad.mit.edu	37	1	47512186	47512186	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:47512186C>T	uc001cqt.3	+	8	1371	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	CYP4X1_uc001cqr.3_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.3_Missense_Mutation_p.T309M	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	374						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATCAAGGAGACGTGCCGATTG	0.493													T	47512186	C	T	47512186	3	4	200	1	0	0	0	0	1	0	0	0	4193	536	19	1	1155	1	CYP4X1	1	47512186	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	7473936	47512186	201738435	4	13811											
CYP4A22	284541	broad.mit.edu	37	1	47606460	47606460	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:47606460C>T	uc001cqv.1	+	1	255	c.204C>T	c.(202-204)caC>caT	p.H68H	CYP4A22_uc009vyo.3_Silent_p.H68H|CYP4A22_uc009vyp.3_Silent_p.H68H	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	68						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTTCCAACACGACCAGGAGC	0.498													T	47606460	C	T	47606460	2	4	200	1	0	0	0	0	0	0	0	1	4184	535	19	1		1	CYP4A22	1	47606460	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	94274	47606460	201644161	5	13812											
CDKN2C	1031	broad.mit.edu	37	1	51439583	51439583	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:51439583delC	uc001csf.3	+	2	2123	c.148delC	c.(148-150)cccfs	p.P50fs	CDKN2C_uc001csg.3_Frame_Shift_Del_p.P50fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	50					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ACTTGGAAATCCCGAGATTGC	0.428			D		"glioma, MM"								-	51439583	C	-	51439583	7	5	200	1	0	1	0	1	0	0	0	0	3165	855	30	0	154	0	CDKN2C	1	51439583	Frame_Shift_Del	DEL	C	TCGA-28-1753-01A-01D-1494-08	3833123	51439583	197811038	6	13813											
FCRLA	84824	broad.mit.edu	37	1	161682005	161682005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:161682005C>T	uc001gbe.3	+	4	1092	c.850C>T	c.(850-852)Cag>Tag	p.Q284*	FCRLA_uc001gbg.3_Nonsense_Mutation_p.Q138*|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Nonsense_Mutation_p.Q278*|FCRLA_uc001gbf.3_Nonsense_Mutation_p.Q189*|FCRLA_uc009wuo.3_Nonsense_Mutation_p.Q144*	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	261	Pro-rich.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GATCAGAGTGCAGGGTGAGTT	0.527													T	161682005	C	T	161682005	4	4	200	1	0	0	0	0	0	1	0	0	5800	711	25	3	868	3	FCRLA	1	161682005	Nonsense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	110242422	161682005	87568616	7	13814											
RYR2	6262	broad.mit.edu	37	1	237754030	237754030	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:237754030A>G	uc001hyl.1	+	30	4018	c.3898A>G	c.(3898-3900)Atg>Gtg	p.M1300V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1300	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.F1299Y(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)			CACTGATATCATGTTTTATCG	0.522													G	237754030	A	G	237754030	3	3	200	1	0	0	0	0	1	0	0	0	13769	217	8	4	4020	4	RYR2	1	237754030	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08	76072025	237754030	11496591	8	13815											
TEKT4	150483	broad.mit.edu	37	2	95539765	95539765	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:95539765G>A	uc002stw.1	+	2	718	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	209					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAAGATGGAGGCCTACAACAT	0.652													A	95539765	G	A	95539765	3	1	200	1	0	0	0	0	1	0	0	0	15752	1203	42	3	635	3	TEKT4	2	95539765	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		95539765	147659608	9	13816											
MARCO	8685	broad.mit.edu	37	2	119752091	119752091	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:119752091G>A	uc002tln.1	+	16	1690	c.1558G>A	c.(1558-1560)Gtc>Atc	p.V520I	MARCO_uc010yyf.1_Missense_Mutation_p.V442I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	520					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.V520I(6)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGTGCAGCGTCTGACCCGG	0.602													A	119752091	G	A	119752091	3	1	200	1	0	0	0	0	1	0	0	0	9311	1145	40	1	1624	1	MARCO	2	119752091	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	24212326	119752091	123447282	10	13817											
NEB	4703	broad.mit.edu	37	2	152484105	152484105	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:152484105C>T	uc021vrb.1	-	63	9375	c.9346G>A	c.(9346-9348)Gag>Aag	p.E3116K	NEB_uc002txu.3_Missense_Mutation_p.E3359K|NEB_uc021vrc.1_Missense_Mutation_p.E3359K|NEB_uc010fnx.3_Missense_Mutation_p.E3104K|NEB_uc021vrd.1_Missense_Mutation_p.E3116K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3116					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACGTCCACTCGTGCAGGTAG	0.532													T	152484105	C	T	152484105	3	4	200	1	0	0	0	0	1	0	0	0	10302	893	31	2	16067	2	NEB	2	152484105	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	32732014	152484105	90715268	11	13818											
LRP2	4036	broad.mit.edu	37	2	170044684	170044684	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:170044684C>T	uc002ues.3	-	48	9337	c.9124G>A	c.(9124-9126)Ggg>Agg	p.G3042R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3042	LDL-receptor class A 24.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGCAGCGCCCGTTCTGACAG	0.512													T	170044684	C	T	170044684	3	4	200	1	0	0	0	0	1	0	0	0	8956	652	23	2	4967	2	LRP2	2	170044684	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	17560579	170044684	73154689	12	13819											
TTN	7273	broad.mit.edu	37	2	179437646	179437646	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:179437646C>T	uc021vsy.1	-	274	65734	c.65509G>A	c.(65509-65511)Gaa>Aaa	p.E21837K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E15532K|TTN_uc021vta.1_Missense_Mutation_p.E15465K|TTN_uc021vtb.1_Missense_Mutation_p.E15340K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22764	Fibronectin type-III 58.						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)			CCAAGTCCTTCGGAATTCATG	0.488													T	179437646	C	T	179437646	3	4	200	1	0	0	0	0	1	0	0	0	16732	893	31	2	34914	2	TTN	2	179437646	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	9392962	179437646	63761727	13	13820											
ITGA4	3676	broad.mit.edu	37	2	182360569	182360569	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:182360569C>T	uc002unu.3	+	13	2208	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	482					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.R481K(1)|p.R481G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTAAATAGAACGAAATTTGAC	0.388													T	182360569	C	T	182360569	3	4	200	1	0	0	0	0	1	0	0	0	7878	536	19	1	1499	1	ITGA4	2	182360569	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	2922923	182360569	60838804	14	13821											
BARD1	580	broad.mit.edu	37	2	215646041	215646041	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:215646041C>T	uc002veu.2	-	3	692	c.557G>A	c.(556-558)aGt>aAt	p.S186N	BARD1_uc021vwe.1_Missense_Mutation_p.S167N|BARD1_uc021vwf.1_Missense_Mutation_p.S89N|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Missense_Mutation_p.S42N|BARD1_uc021vwj.1_Missense_Mutation_p.S186N	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	186			S -> G (in dbSNP:rs16852741).		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			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)		TGCAGGAGGACTTGGGGAAAC	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T	215646041	C	T	215646041	3	4	200	1	0	0	0	0	1	0	0	0	1312	565	20	3	1808	3	BARD1	2	215646041	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	33285472	215646041	27553332	15	13822											
SPEG	10290	broad.mit.edu	37	2	220342016	220342016	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:220342016C>T	uc010fwg.3	+	19	4578	c.4578C>T	c.(4576-4578)acC>acT	p.T1526T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1526	Ig-like 8.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			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)		TGCTGCTGACCGAGAGCAGCC	0.642													T	220342016	C	T	220342016	2	4	200	1	0	0	0	0	0	0	0	1	15035	639	23	2		2	SPEG	2	220342016	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	4695975	220342016	22857357	16	13823											
FGD5	152273	broad.mit.edu	37	3	14861789	14861789	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:14861789C>T	uc003bzc.3	+	0	1321	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	FGD5_uc011avk.2_Missense_Mutation_p.A404V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	404					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGGTGGAGCGGCCGAGGGT	0.647													T	14861789	C	T	14861789	3	4	200	1	0	0	0	0	1	0	0	0	5836	768	27	1	1213	1	FGD5	3	14861789	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		14861789	183160641	17	13824											
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:121822548G>A	uc003eet.3	+	2	382	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_uc011bjo.2_Missense_Mutation_p.R3H|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.R79H|CD86_uc021xcz.1_Missense_Mutation_p.R79H	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423													A	121822548	G	A	121822548	3	1	200	1	0	0	0	0	1	0	0	0	3043	1087	38	1	264	1	CD86	3	121822548	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	106960759	121822548	76199882	18	13825											
SLBP	7884	broad.mit.edu	37	4	1701407	1701407	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:1701407C>T	uc003gdi.1	-	4	478	c.363G>A	c.(361-363)atG>atA	p.M121I	SLBP_uc003gdk.1_Missense_Mutation_p.M82I|SLBP_uc011bvf.1_Missense_Mutation_p.M86I|SLBP_uc003gdl.1_Missense_Mutation_p.M38I	NM_006527	NP_006518	Q14493	SLBP_HUMAN	Homo sapiens stem-loop binding protein (SLBP), mRNA.	121					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			GCACAGTAGACATAGACTCCT	0.393													T	1701407	C	T	1701407	3	4	200	1	0	0	0	0	1	0	0	0	14372	478	17	3	465	3	SLBP	4	1701407	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		1701407	189452869	19	13826											
ANK2	287	broad.mit.edu	37	4	114278539	114278539	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:114278539C>T	uc003ibe.4	+	37	8865	c.8765C>T	c.(8764-8766)cCa>cTa	p.P2922L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P2937L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2889					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		ATCTATGATCCACAAATCACT	0.408													T	114278539	C	T	114278539	3	4	200	1	0	0	0	0	1	0	0	0	621	594	21	3	8980	3	ANK2	4	114278539	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	112577132	114278539	76875737	20	13827											
ZFP42	132625	broad.mit.edu	37	4	188924445	188924445	+	Missense_Mutation	SNP	C	C	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:188924445C>G	uc003izh.1	+	3	892	c.484C>G	c.(484-486)Cta>Gta	p.L162V	ZFP42_uc003izi.1_Missense_Mutation_p.L162V|ZFP42_uc021xvm.1_Missense_Mutation_p.L162V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	162					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGGCATTGACCTATCAGATCC	0.453													G	188924445	C	G	188924445	3	3	200	1	0	0	0	0	1	0	0	0	17647	680	24	5	486	5	ZFP42	4	188924445	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	74645906	188924445	2229831	21	13828											
PCDHB16	57717	broad.mit.edu	37	5	140563779	140563779	+	Missense_Mutation	SNP	G	G	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr5:140563779G>T	uc003liv.3	+	0	2800	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	549	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCGCGTGCTGGTGCT	0.711													T	140563779	G	T	140563779	3	4	200	1	0	0	0	0	1	0	0	0	11541	1145	40	5	1647	5	PCDHB16	5	140563779	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		140563779	40351481	22	13829											
GABRG2	2566	broad.mit.edu	37	5	161580200	161580200	+	Silent	SNP	C	C	T	rs113085352		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr5:161580200C>T	uc010jjc.3	+	10	1732	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	GABRG2_uc003lyy.4_Silent_p.D418D|GABRG2_uc003lyz.4_Silent_p.D410D|GABRG2_uc011dej.2_Silent_p.D315D	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	410					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.D418D(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGTGTCTGGACGGCAAGGACT	0.463													T	161580200	C	T	161580200	2	4	200	1	0	0	0	0	0	0	0	1	6172	535	19	1		1	GABRG2	5	161580200	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	21016421	161580200	19335060	23	13830											
RFX6	222546	broad.mit.edu	37	6	117232121	117232121	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr6:117232121G>A	uc003pxm.3	+	6	759	c.696G>A	c.(694-696)tcG>tcA	p.S232S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	232					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTAAATATTCGCTTAGCTCAA	0.343													A	117232121	G	A	117232121	2	1	200	1	0	0	0	0	0	0	0	1	13267	1074	38	1		1	RFX6	6	117232121	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08		117232121	53882946	24	13831											
CD36	948	broad.mit.edu	37	7	80300317	80300317	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:80300317C>T	uc003uhc.3	+	12	1527	c.843C>T	c.(841-843)tcC>tcT	p.S281S	CD36_uc011kgv.2_Silent_p.S205S|CD36_uc003uhd.4_Silent_p.S281S|CD36_uc003uhe.4_Silent_p.S281S|CD36_uc003uhf.4_Silent_p.S281S|CD36_uc003uhg.4_Silent_p.S281S|CD36_uc003uhh.4_Silent_p.S281S|CD36_uc022agu.1_Silent_p.S242S|CD36_uc022agv.1_Silent_p.S221S	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	281					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TATTTGAATCCGACGTTAATC	0.388													T	80300317	C	T	80300317	2	4	200	1	0	0	0	0	0	0	0	1	3007	639	23	2		2	CD36	7	80300317	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08		80300317	78838346	25	13832											
SEMA3C	10512	broad.mit.edu	37	7	80434993	80434993	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:80434993G>A	uc011kgw.2	-	6	753	c.674C>T	c.(673-675)gCg>gTg	p.A225V	SEMA3C_uc003uhj.3_Missense_Mutation_p.A207V|SEMA3C_uc011kgx.1_Missense_Mutation_p.A59V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	207	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGTTCTGACCGCATTCCTCTT	0.323													A	80434993	G	A	80434993	3	1	200	1	0	0	0	0	1	0	0	0	14026	1087	38	1	1683	1	SEMA3C	7	80434993	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	134676	80434993	78703670	26	13833											
TES	26136	broad.mit.edu	37	7	115892026	115892026	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:115892026C>T	uc003vho.3	+	4	1130	c.915C>T	c.(913-915)gaC>gaT	p.D305D	TES_uc011kmy.2_Silent_p.D63D|TES_uc003vhp.3_Silent_p.D296D|TES_uc022aki.1_Non-coding_Transcript|BD495725_uc003vhq.1_5'Flank	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	305	LIM zinc-binding 2.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CTGGCTGTGACGAGGTATGTT	0.478													T	115892026	C	T	115892026	2	4	200	1	0	0	0	0	0	0	0	1	15762	535	19	1		1	TES	7	115892026	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	35457033	115892026	43246637	27	13834											
WEE2	494551	broad.mit.edu	37	7	141408767	141408767	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:141408767C>T	uc003vwn.2	+	0	615	c.209C>T	c.(208-210)tCg>tTg	p.S70L	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	70					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GACACATCTTCGGAAAAAGAC	0.517													T	141408767	C	T	141408767	3	4	200	1	0	0	0	0	1	0	0	0	17342	893	31	2	211	2	WEE2	7	141408767	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	25516741	141408767	17729896	28	13835											
ARHGEF5	7984	broad.mit.edu	37	7	144060365	144060365	+	Missense_Mutation	SNP	T	T	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:144060365T>A	uc003wel.3	+	1	721	c.603T>A	c.(601-603)agT>agA	p.S201R	ARHGEF5_uc003wek.3_Missense_Mutation_p.S201R	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	201					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTCTGAAAGTGGGACTATCA	0.532													A	144060365	T	A	144060365	3	1	200	1	0	0	0	0	1	0	0	0	909	1693	59	5	605	5	ARHGEF5	7	144060365	Missense_Mutation	SNP	T	TCGA-28-1753-01A-01D-1494-08	2651598	144060365	15078298	29	13836											
DOCK5	80005	broad.mit.edu	37	8	25190203	25190203	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:25190203G>A	uc003xeg.3	+	19	2223	c.2086G>A	c.(2086-2088)Gca>Aca	p.A696T	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.A410T|DOCK5_uc003xei.3_Missense_Mutation_p.A266T|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	696						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGTGTTTGACGCACTGGTAAG	0.318													A	25190203	G	A	25190203	3	1	200	1	0	0	0	0	1	0	0	0	4690	1087	38	1	2164	1	DOCK5	8	25190203	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		25190203	121173819	30	13837											
DOCK5	80005	broad.mit.edu	37	8	25225732	25225732	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:25225732C>T	uc003xeg.3	+	31	3386	c.3249C>T	c.(3247-3249)atC>atT	p.I1083I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.3_Silent_p.I653I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1083						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAAGGAAATCGGCTTTAGAA	0.413													T	25225732	C	T	25225732	2	4	200	1	0	0	0	0	0	0	0	1	4690	874	31	2		2	DOCK5	8	25225732	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	35529	25225732	121138290	31	13838											
NOV	4856	broad.mit.edu	37	8	120431487	120431487	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:120431487C>T	uc003yoq.2	+	3	900	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	227	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTCTCCACCCGGGTCACCAA	0.532													T	120431487	C	T	120431487	3	4	200	1	0	0	0	0	1	0	0	0	10553	643	23	2	693	2	NOV	8	120431487	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	95205755	120431487	25932535	32	13839											
CPSF1	29894	broad.mit.edu	37	8	145620691	145620691	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:145620691G>A	uc003zcj.3	-	26	3130	c.3055C>T	c.(3055-3057)Cgc>Tgc	p.R1019C	MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1019					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.R1019C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCGTGCAGCGCAGCGGGATC	0.667													A	145620691	G	A	145620691	3	1	200	1	0	0	0	0	1	0	0	0	3824	1087	38	1	1324	1	CPSF1	8	145620691	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	25189204	145620691	743331	33	13840											
UHRF2	115426	broad.mit.edu	37	9	6413501	6413501	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr9:6413501A>G	uc003zjy.3	+	0	351	c.11A>G	c.(10-12)cAg>cGg	p.Q4R	UHRF2_uc003zjz.3_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.	4	Ubiquitin-like.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGTGGATACAGGTTCGCACC	0.662													G	6413501	A	G	6413501	3	3	200	1	0	0	0	0	1	0	0	0	16967	188	7	4	13	4	UHRF2	9	6413501	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08		6413501	134799930	34	13841											
IPPK	64768	broad.mit.edu	37	9	95400529	95400529	+	Missense_Mutation	SNP	G	G	A	rs146634367		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr9:95400529G>A	uc004asl.1	-	8	947	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	224					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACGGGGCTCCGGGCATCTTTG	0.562													A	95400529	G	A	95400529	3	1	200	1	0	0	0	0	1	0	0	0	7801	1115	39	2	825	2	IPPK	9	95400529	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	88987028	95400529	45812902	35	13842											
KIF5B	3799	broad.mit.edu	37	10	32306085	32306085	+	Missense_Mutation	SNP	T	T	C			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr10:32306085T>C	uc001iwe.4	-	23	3217	c.2747A>G	c.(2746-2748)cAt>cGt	p.H916R		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	916	Globular.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTGTGCAGAATGCCCTCTTCT	0.383			T	"RET, ALK"	NSCLC								C	32306085	T	C	32306085	3	2	200	1	0	0	0	0	1	0	0	0	8306	1464	51	4	152	4	KIF5B	10	32306085	Missense_Mutation	SNP	T	TCGA-28-1753-01A-01D-1494-08		32306085	103228662	36	13843											
PTEN	5728	broad.mit.edu	37	10	89720857	89720857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr10:89720857C>A	uc001kfb.3	+	7	2040	c.1008C>A	c.(1006-1008)taC>taA	p.Y336*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	336	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R335*(25)|p.Y336*(10)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*4(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*7(1)|p.R335G(1)|p.Y336F(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAACCGATACTTTTCTCCAA	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720857	C	A	89720857	4	1	200	1	0	0	0	0	0	1	0	0	12738	576	20	5	1038	5	PTEN	10	89720857	Nonsense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	57414772	89720857	45813890	37	13844											
SLC6A13	6540	broad.mit.edu	37	12	333249	333249	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:333249G>A	uc001qic.2	-	10	1310	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	SLC6A13_uc009zdj.2_Missense_Mutation_p.P397L|SLC6A13_uc010sdl.2_Missense_Mutation_p.P315L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	407					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GAACACGTGAGGGTACATGTC	0.562													A	333249	G	A	333249	3	1	200	1	0	0	0	0	1	0	0	0	14676	1000	35	3	608	3	SLC6A13	12	333249	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		333249	133518646	38	13845											
SLCO1B3	338821	broad.mit.edu	37	12	21201718	21201718	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:21201718C>T	uc010sil.2	+						SLCO1B3_uc010sim.2_Missense_Mutation_p.S403F|SLCO1B3_uc010sin.2_Missense_Mutation_p.S356F			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCAAATTGTCTTTAGTTGGA	0.353													T	21201718	C	T	21201718	3	4	200	1	0	0	0	0	1	0	0	0	14724	913	32	3		3	SLCO1B3	12	21201718	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	20868469	21201718	112650177	39	13846											
E2F7	144455	broad.mit.edu	37	12	77426878	77426878	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:77426878A>G	uc001sym.4	-	8	1570	c.1334T>C	c.(1333-1335)aTt>aCt	p.I445T	E2F7_uc009zse.3_5'Flank	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	445					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGGCTTCCAATTTCTAAAGA	0.353													G	77426878	A	G	77426878	3	3	200	1	0	0	0	0	1	0	0	0	4872	101	4	4	1421	4	E2F7	12	77426878	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08	56225160	77426878	56425017	40	13847											
RPH3A	22895	broad.mit.edu	37	12	113313505	113313505	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:113313505C>T	uc010syl.2	+	11	1267	c.905C>T	c.(904-906)cCg>cTg	p.P302L	RPH3A_uc001ttz.3_Missense_Mutation_p.P302L|RPH3A_uc001tty.3_Missense_Mutation_p.P298L|RPH3A_uc009zwe.1_Missense_Mutation_p.P298L|RPH3A_uc010sym.2_Missense_Mutation_p.P253L|RPH3A_uc001tua.3_Missense_Mutation_p.P62L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	302	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.G301R(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGAAGCAGACCGGGTCCTGGG	0.577													T	113313505	C	T	113313505	3	4	200	1	0	0	0	0	1	0	0	0	13551	652	23	2	943	2	RPH3A	12	113313505	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	35886627	113313505	20538390	41	13848											
SLC7A1	6541	broad.mit.edu	37	13	30110213	30110213	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr13:30110213A>G	uc001uso.3	-	2	500	c.113T>C	c.(112-114)gTg>gCg	p.V38A		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	38					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCGAGGGCCACCAGATCAAA	0.627													G	30110213	A	G	30110213	3	3	200	1	0	0	0	0	1	0	0	0	14692	159	6	4	1820	4	SLC7A1	13	30110213	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08		30110213	85059665	42	13849											
SPERT	220082	broad.mit.edu	37	13	46287863	46287863	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr13:46287863G>A	uc001van.1	+	2	783	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	SPERT_uc001vao.2_Missense_Mutation_p.A199T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	235						cytoplasmic membrane-bounded vesicle				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)		GGACCACGTCGCCCTGCAGGT	0.677													A	46287863	G	A	46287863	3	1	200	1	0	0	0	0	1	0	0	0	15038	1087	38	1	713	1	SPERT	13	46287863	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	16177650	46287863	68882015	43	13850											
C15orf2	23742	broad.mit.edu	37	15	24921157	24921157	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:24921157G>A	uc001ywo.3	+	0	617	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	48					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGCCCTTTCCGCGGCCTGTTC	0.761													A	24921157	G	A	24921157	3	1	200	1	0	0	0	0	1	0	0	0	1784	1087	38	1	145	1	C15orf2	15	24921157	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		24921157	77610235	44	13851											
SPPL2A	84888	broad.mit.edu	37	15	51031880	51031880	+	Silent	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:51031880A>G	uc001zyv.3	-	5	910	c.730T>C	c.(730-732)Ttg>Ctg	p.L244L		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	244						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TTCTTACCCAACCATTTGTAG	0.308													G	51031880	A	G	51031880	2	3	200	1	0	0	0	0	0	0	0	1	15087	40	2	4		4	SPPL2A	15	51031880	Silent	SNP	A	TCGA-28-1753-01A-01D-1494-08	26110723	51031880	51499512	45	13852											
LARP6	55323	broad.mit.edu	37	15	71128745	71128745	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:71128745G>A	uc002ass.3	-	1	371	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	100	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGTAGAATTCGATCTGATCCA	0.502													A	71128745	G	A	71128745	2	1	200	1	0	0	0	0	0	0	0	1	8632	1048	37	2		2	LARP6	15	71128745	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08	20096865	71128745	31402647	46	13853											
MSLNL	401827	broad.mit.edu	37	16	820272	820272	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr16:820272C>T	uc002cjz.1	-	14	2713	c.2713G>A	c.(2713-2715)Gtg>Atg	p.V905M	MIR662_uc021tac.1_Non-coding_Transcript	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	554					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGCGCAGTCACGTTGCCAACA	0.692													T	820272	C	T	820272	3	4	200	1	0	0	0	0	1	0	0	0	9882	536	19	1	456	1	MSLNL	16	820272	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		820272	89534481	47	13854											
OSGIN1	29948	broad.mit.edu	37	16	83994249	83994249	+	Missense_Mutation	SNP	C	C	T	rs62640906	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr16:83994249C>T	uc002fha.3	+	4	529	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	OSGIN1_uc002fhb.3_Missense_Mutation_p.R94C|OSGIN1_uc002fhc.3_Missense_Mutation_p.R94C	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	177					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCCCTTCTACGCCCAGACAC	0.632													T	83994249	C	T	83994249	3	4	200	1	0	0	0	0	1	0	0	0	11289	536	19	1	547	1	OSGIN1	16	83994249	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	83173977	83994249	6360504	48	13855											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			T	7577120	C	T	7577120	3	4	200	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		7577120	73618090	49	13856											
SPAG5	124923	broad.mit.edu	37	17	26939067	26939067	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:26939067C>T	uc010crq.2	-	6	720	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Non-coding_Transcript|SPAG5_uc021ttt.1_Missense_Mutation_p.V230M	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN	Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.	1019					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTACCTTCACATCTCGATGC	0.443													T	26939067	C	T	26939067	3	4	200	1	0	0	0	0	1	0	0	0	14981	478	17	3		3	SPAG5	17	26939067	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	19361947	26939067	54256143	50	13857											
KIF2B	84643	broad.mit.edu	37	17	51901460	51901460	+	Missense_Mutation	SNP	T	T	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:51901460T>A	uc002iua.2	+	0	1222	c.1066T>A	c.(1066-1068)Ttt>Att	p.F356I	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	356	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTATGGGACATTTTTTGAGAT	0.453													A	51901460	T	A	51901460	3	1	200	1	0	0	0	0	1	0	0	0	8298	1493	52	5	1068	5	KIF2B	17	51901460	Missense_Mutation	SNP	T	TCGA-28-1753-01A-01D-1494-08	24962393	51901460	29293750	51	13858											
USH1G	124590	broad.mit.edu	37	17	72916669	72916669	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:72916669C>T	uc002jme.1	-	1	445	c.262G>A	c.(262-264)Gga>Aga	p.G88R	USH1G_uc010wro.1_5'UTR	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	88					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)					ATGTTGGCTCCGAAGGACACC	0.602													T	72916669	C	T	72916669	3	4	200	1	0	0	0	0	1	0	0	0	17032	661	23	2	1131	2	USH1G	17	72916669	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	21015209	72916669	8278541	52	13859											
DNAH17	8632	broad.mit.edu	37	17	76502887	76502887	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:76502887G>A	uc010dhp.2	-	29	4843	c.4718C>T	c.(4717-4719)aCg>aTg	p.T1573M		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.T1570M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTCTTTTCGTCTCTAAATA	0.557													A	76502887	G	A	76502887	3	1	200	1	0	0	0	0	1	0	0	0	4601	1145	40	1	8878	1	DNAH17	17	76502887	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	3586218	76502887	4692323	53	13860											
SIPA1L3	23094	broad.mit.edu	37	19	38655177	38655177	+	Missense_Mutation	SNP	G	G	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:38655177G>T	uc002ohk.3	+	14	4348	c.3839G>T	c.(3838-3840)aGc>aTc	p.S1280I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1280					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			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)			AACGCATCCAGCAGCCACAGC	0.607													T	38655177	G	T	38655177	3	4	200	1	0	0	0	0	1	0	0	0	14331	971	34	5	3889	5	SIPA1L3	19	38655177	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		38655177	20473806	54	13861											
LILRB2	10288	broad.mit.edu	37	19	54780739	54780739	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:54780739C>T	uc002qfb.3	-	9	1671	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.V469I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.V468I|LILRB2_uc010yet.2_Missense_Mutation_p.V353I	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	469					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		agtaggaCGACGGCCACCAAG	0.577													T	54780739	C	T	54780739	3	4	200	1	0	0	0	0	1	0	0	0	8791	536	19	1	411	1	LILRB2	19	54780739	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	16125562	54780739	4348244	55	13862											
LILRB1	10859	broad.mit.edu	37	19	55146136	55146136	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:55146136G>A	uc002qgj.3	+	10	1745	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	LILRB1_uc010erp.1_Missense_Mutation_p.V84I|LILRB1_uc002qgl.3_Missense_Mutation_p.V469I|LILRB1_uc002qgk.3_Missense_Mutation_p.V470I|LILRB1_uc002qgm.3_Missense_Mutation_p.V470I|LILRB1_uc010erq.3_Missense_Mutation_p.V453I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	469					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		CTTGGTGGCCGTCAtcctact	0.577										HNSCC(37;0.09)			A	55146136	G	A	55146136	3	1	200	1	0	0	0	0	1	0	0	0	8790	1145	40	1	1442	1	LILRB1	19	55146136	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	365397	55146136	3982847	56	13863											
TPTE	7179	broad.mit.edu	37	21	10951337	10951337	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:10951337C>T	uc002yip.1	-	9	743	c.375G>A	c.(373-375)gaG>gaA	p.E125E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.E107E|TPTE_uc002yir.1_Silent_p.E87E|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	125					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		TAGAACGATACTCCAAAGGAA	0.328													T	10951337	C	T	10951337	2	4	200	1	0	0	0	0	0	0	0	1	16427	564	20	3		3	TPTE	21	10951337	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08		10951337	37178558	57	13864											
KRTAP6-1	337966	broad.mit.edu	37	21	31986020	31986020	+	Silent	SNP	G	G	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:31986020G>T	uc002yop.3	-	0	204	c.204C>A	c.(202-204)ggC>ggA	p.G68G	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	68						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						AATAATAGTAGCCAGAGCCAG	0.537													T	31986020	G	T	31986020	2	4	200	1	0	0	0	0	0	0	0	1	8569	958	34	5		5	KRTAP6-1	21	31986020	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08	21034683	31986020	16143875	58	13865											
ITSN1	6453	broad.mit.edu	37	21	35254584	35254584	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:35254584C>T	uc002yta.1	+	34	4647	c.4379C>T	c.(4378-4380)cCg>cTg	p.P1460L	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.P1455L|ITSN1_uc002ytj.2_Missense_Mutation_p.P1399L|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Intron|ITSN1_uc002ytk.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1460					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCTTGGGGCCGCGCAAATTT	0.473													T	35254584	C	T	35254584	3	4	200	1	0	0	0	0	1	0	0	0	7926	652	23	2	4519	2	ITSN1	21	35254584	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	3268564	35254584	12875311	59	13866											
DIP2A	23181	broad.mit.edu	37	21	47957153	47957153	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:47957153C>T	uc002zjo.2	+	13	1842	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	DIP2A_uc011afy.1_Silent_p.N489N|DIP2A_uc011afz.1_Silent_p.N549N|DIP2A_uc002zjl.3_Silent_p.N553N|DIP2A_uc002zjm.3_Silent_p.N553N|DIP2A_uc010gql.3_Silent_p.N510N|DIP2A_uc002zjn.3_Silent_p.N553N|DIP2A_uc002zjp.1_Silent_p.N298N|DIP2A_uc002zjq.3_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	553					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CATTAACAAACGTGCTGGATT	0.443													T	47957153	C	T	47957153	2	4	200	1	0	0	0	0	0	0	0	1	4527	535	19	1		1	DIP2A	21	47957153	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	12702569	47957153	172742	60	13867											
SUSD2	56241	broad.mit.edu	37	22	24582099	24582099	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr22:24582099G>A	uc002zzn.1	+	8	1499	c.1455G>A	c.(1453-1455)gcG>gcA	p.A485A		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	485	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGGTGCAGGCGCGGGCCCAGC	0.647													A	24582099	G	A	24582099	2	1	200	1	0	0	0	0	0	0	0	1	15405	1074	38	1		1	SUSD2	22	24582099	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08		24582099	26722467	61	13868											
CYBB	1536	broad.mit.edu	37	X	37668843	37668843	+	Silent	SNP	T	T	C			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:37668843T>C	uc004ddr.2	+	11	1546	c.1485T>C	c.(1483-1485)caT>caC	p.H495H	CYBB_uc011mkf.1_Silent_p.H463H|CYBB_uc011mkg.1_Silent_p.H228H	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	495					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CTGTGCACCATGATGAGGAGA	0.398													C	37668843	T	C	37668843	2	2	200	1	0	0	0	0	0	0	0	1	4133	1461	51	4		4	CYBB	23	37668843	Silent	SNP	T	TCGA-28-1753-01A-01D-1494-08		37668843	117601717	62	13869											
GDPD2	54857	broad.mit.edu	37	X	69652284	69652284	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:69652284C>T	uc011mpk.2	+	13	1949	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	GDPD2_uc010nky.2_3'UTR|GDPD2_uc004dyh.3_Missense_Mutation_p.R479C|GDPD2_uc011mpl.2_Missense_Mutation_p.R400C|GDPD2_uc011mpm.2_Missense_Mutation_p.R400C	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	479					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	p.R479C(1)|p.L530L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCAGCAGATGCGTTACCCTAT	0.522													T	69652284	C	T	69652284	3	4	200	1	0	0	0	0	1	0	0	0	6324	768	27	1	1638	1	GDPD2	23	69652284	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	31983441	69652284	85618276	63	13870											
NXF3	56000	broad.mit.edu	37	X	102337213	102337213	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:102337213G>A	uc004eju.3	-	8	931	c.860C>T	c.(859-861)aCg>aTg	p.T287M	NXF3_uc010noi.1_Missense_Mutation_p.T137M|NXF3_uc011mrw.1_Missense_Mutation_p.T287M|NXF3_uc011mrx.1_Missense_Mutation_p.T198M	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	287						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CGAGAAGGTCGTGCACACTGG	0.542													A	102337213	G	A	102337213	3	1	200	1	0	0	0	0	1	0	0	0	10785	1145	40	1	779	1	NXF3	23	102337213	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	32684929	102337213	52933347	64	13871											
IRS4	8471	broad.mit.edu	37	X	107978476	107978476	+	Missense_Mutation	SNP	C	C	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:107978476C>G	uc004eoc.2	-	0	1132	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	367						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCTCCCGGCTCGAGCGGCACC	0.632													G	107978476	C	G	107978476	3	3	200	1	0	0	0	0	1	0	0	0	7842	893	31	5	2678	5	IRS4	23	107978476	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	5641263	107978476	47292084	65	13872											
CTSS	1520	broad.mit.edu	37	1	150727568	150727568	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr1:150727568C>T	uc001evn.3	-	3	569	c.308G>A	c.(307-309)aGa>aAa	p.R103K	CTSS_uc010pcj.2_Intron	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	103					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGATATTTCTCTGCCACTG	0.408													T	150727568	C	T	150727568	3	4	201	1	0	0	0	0	1	0	0	0	4041	913	32	3	707	3	CTSS	1	150727568	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		150727568	98523053	1	13873											
SPP2	6694	broad.mit.edu	37	2	234967547	234967547	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr2:234967547G>A	uc002vvk.1	+	2	363	c.278G>A	c.(277-279)aGg>aAg	p.R93K	SPP2_uc010fyl.1_Missense_Mutation_p.R13K	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	93					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ACTACATGCAGGAAGGATTCT	0.453													A	234967547	G	A	234967547	3	1	201	1	0	0	0	0	1	0	0	0	15086	1000	35	3	288	3	SPP2	2	234967547	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		234967547	8231826	2	13874											
NFXL1	152518	broad.mit.edu	37	4	47886362	47886362	+	Splice_Site	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr4:47886362C>T	uc010igh.3	-	15	2093	c.1916_splice	c.e15+1	p.M639_splice	NFXL1_uc003gxp.3_Splice_Site_p.M639_splice|NFXL1_uc003gxq.4_Splice_Site|NFXL1_uc010igi.3_Splice_Site_p.M639_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	639						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTAATACTTACATAGGAATAG	0.368													T	47886362	C	T	47886362	5	4	201	1	0	0	0	0	0	0	1	0	10388	492	17	3	854	3	NFXL1	4	47886362	Splice_Site	SNP	C	TCGA-28-2499-01A-01D-1494-08		47886362	143267914	3	13875											
FRAS1	80144	broad.mit.edu	37	4	79402982	79402982	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr4:79402982G>A	uc003hlb.2	+	56	8908	c.8468G>A	c.(8467-8469)cGc>cAc	p.R2823H		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2818	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			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						CCAGTTATCCGCCATGGTACT	0.468													A	79402982	G	A	79402982	3	1	201	1	0	0	0	0	1	0	0	0	6042	1087	38	1	8769	1	FRAS1	4	79402982	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	31516620	79402982	111751294	4	13876											
CDH9	1007	broad.mit.edu	37	5	26902807	26902807	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:26902807G>T	uc003jgs.1	-	6	1200	c.1031C>A	c.(1030-1032)aCt>aAt	p.T344N		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	344	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CACTCTTAAAGTATAGAGCAT	0.328													T	26902807	G	T	26902807	3	4	201	1	0	0	0	0	1	0	0	0	3117	1029	36	5	1362	5	CDH9	5	26902807	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		26902807	154012453	5	13877											
PTCD2	79810	broad.mit.edu	37	5	71618025	71618025	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:71618025G>A	uc003kcb.3	+	1	164	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Missense_Mutation_p.V52M|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	52										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TACAGATAATGTGGTGAAATT	0.284													A	71618025	G	A	71618025	3	1	201	1	0	0	0	0	1	0	0	0	12728	1377	48	3	160	3	PTCD2	5	71618025	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	44715218	71618025	109297235	6	13878											
VDAC1	7416	broad.mit.edu	37	5	133326760	133326760	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:133326760C>T	uc003kyp.2	-	3	526	c.203G>A	c.(202-204)gGc>gAc	p.G68D	VDAC1_uc003kyq.2_Missense_Mutation_p.G68D|VDAC1_uc003kyr.2_Missense_Mutation_p.G68D	NM_003374	NP_003365	P21796	VDAC1_HUMAN	Homo sapiens voltage-dependent anion channel 1 (VDAC1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	68					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	AAACGTCAGGCCGTACTCAGT	0.463													T	133326760	C	T	133326760	3	4	201	1	0	0	0	0	1	0	0	0	17143	739	26	3	672	3	VDAC1	5	133326760	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	61708735	133326760	47588500	7	13879											
TAP2	6891	broad.mit.edu	37	6	32782892	32782892	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr6:32782892C>T	uc011dqf.1	-	12	2233	c.2111G>A	c.(2110-2112)aGc>aAc	p.S704N	TAP2_uc003oca.3_Missense_Mutation_p.S97N|TAP2_uc011dqg.1_Missense_Mutation_p.S97N	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GGCCTGTCTGCTCCTCTCCAA	0.592													T	32782892	C	T	32782892	3	4	201	1	0	0	0	0	1	0	0	0	15548	797	28	3		3	TAP2	6	32782892	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		32782892	138332175	8	13880											
FAM83B	222584	broad.mit.edu	37	6	54806575	54806575	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr6:54806575C>T	uc003pck.3	+	4	2922	c.2806C>T	c.(2806-2808)Cgt>Tgt	p.R936C		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	936								p.R936H(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)					TGTTTACAGTCGTTTTGAGCC	0.438													T	54806575	C	T	54806575	3	4	201	1	0	0	0	0	1	0	0	0	5634	884	31	2	2820	2	FAM83B	6	54806575	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	22023683	54806575	116308492	9	13881											
DDX56	54606	broad.mit.edu	37	7	44611974	44611974	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:44611974G>A	uc003tlg.3	-	4	1260	c.617C>T	c.(616-618)gCa>gTa	p.A206V	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.A206V|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	206	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTCCTTGAGTGCTTGTACGTC	0.473													A	44611974	G	A	44611974	3	1	201	1	0	0	0	0	1	0	0	0	4374	1319	46	3	1066	3	DDX56	7	44611974	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		44611974	114526689	10	13882											
MAGI2	9863	broad.mit.edu	37	7	77756518	77756518	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:77756518G>T	uc003ugx.3	-	18	3673	c.3419C>A	c.(3418-3420)cCc>cAc	p.P1140H	MAGI2_uc003ugy.3_Missense_Mutation_p.P1126H|MAGI2_uc010ldx.1_Missense_Mutation_p.P733H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1140						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGTACCTGGGGTTGTCTGTA	0.597													T	77756518	G	T	77756518	3	4	201	1	0	0	0	0	1	0	0	0	9191	1232	43	5	964	5	MAGI2	7	77756518	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	33144544	77756518	81382145	11	13883											
LAMB4	22798	broad.mit.edu	37	7	107746315	107746315	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:107746315C>T	uc010ljo.1	-	7	901	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	LAMB4_uc003vey.2_Missense_Mutation_p.E273K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	273	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGCGACATTCGCTAGCATGG	0.468													T	107746315	C	T	107746315	3	4	201	1	0	0	0	0	1	0	0	0	8613	893	31	2	4576	2	LAMB4	7	107746315	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	29989797	107746315	51392348	12	13884											
LGI3	203190	broad.mit.edu	37	8	22005999	22005999	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:22005999G>A	uc003xav.3	-	7	1610	c.1321C>T	c.(1321-1323)Cgc>Tgc	p.R441C	LGI3_uc010ltu.3_Missense_Mutation_p.R417C	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	441					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCAATGTAGCGGCTGAGGCAC	0.657													A	22005999	G	A	22005999	3	1	201	1	0	0	0	0	1	0	0	0	8753	1116	39	2	329	2	LGI3	8	22005999	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		22005999	124358023	13	13885											
NRG1	3084	broad.mit.edu	37	8	32599524	32599524	+	Splice_Site	SNP	A	A	G			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:32599524A>G	uc003xiv.2	+	7	1150	c.633_splice	c.e7-2	p.K211_splice	NRG1_uc022ats.1_Intron|NRG1_uc003xip.3_Intron|NRG1_uc010lvn.3_Intron|NRG1_uc003xis.3_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Splice_Site_p.K211_splice|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.3_Splice_Site_p.K101_splice|NRG1_uc003xiy.3_Intron|NRG1_uc011lbg.1_Splice_Site_p.K57_splice|NRG1_uc011lbh.1_Intron|NRG1_uc003xiz.1_Splice_Site|NRG1_uc003xja.2_Splice_Site_p.K14_splice	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	211	EGF-like.				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			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)		TTTGCCCTCTAGGTGCCAACC	0.378													G	32599524	A	G	32599524	5	3	201	1	0	0	0	0	0	0	1	0	10647	434	15	4	2127	4	NRG1	8	32599524	Splice_Site	SNP	A	TCGA-28-2499-01A-01D-1494-08	10593525	32599524	113764498	14	13886											
GML	2765	broad.mit.edu	37	8	143928002	143928002	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:143928002G>A	uc003yxg.3	+	3	463	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	125	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P124P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATGTTACCCGATGAAGTAAC	0.418													A	143928002	G	A	143928002	3	1	201	1	0	0	0	0	1	0	0	0	6492	1058	37	2	383	2	GML	8	143928002	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	111328478	143928002	2436020	15	13887											
OR2K2	26248	broad.mit.edu	37	9	114090554	114090554	+	Missense_Mutation	SNP	G	G	A	rs117283259	byFrequency	TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr9:114090554G>A	uc011lwp.2	-	0	160	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTTTTAAGGCGTGAATCTAGG	0.433													A	114090554	G	A	114090554	3	1	201	1	0	0	0	0	1	0	0	0	11005	1145	40	1	793	1	OR2K2	9	114090554	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		114090554	27122877	16	13888											
PHRF1	57661	broad.mit.edu	37	11	607393	607393	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:607393C>T	uc001lqe.3	+	13	2068	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	PHRF1_uc010qwc.2_Missense_Mutation_p.A645V|PHRF1_uc010qwd.2_Missense_Mutation_p.A644V|PHRF1_uc010qwe.2_Missense_Mutation_p.A642V|PHRF1_uc009ybz.1_Missense_Mutation_p.A436V|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	646							RNA polymerase binding|zinc ion binding	p.A651V(1)|p.A646V(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCTCTGCCGCGTCTAAGATC	0.587													T	607393	C	T	607393	3	4	201	1	0	0	0	0	1	0	0	0	11861	768	27	1	1984	1	PHRF1	11	607393	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		607393	134399123	17	13889											
FAT3	120114	broad.mit.edu	37	11	92531786	92531786	+	Silent	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:92531786C>T	uc001pdj.4	+	8	5624	c.5607C>T	c.(5605-5607)gtC>gtT	p.V1869V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1869	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				CCGTTGAAGTCAACATTGAGG	0.463										TCGA Ovarian(4;0.039)			T	92531786	C	T	92531786	2	4	201	1	0	0	0	0	0	0	0	1	5691	813	29	3		3	FAT3	11	92531786	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08	91924393	92531786	42474730	18	13890											
TRPC6	7225	broad.mit.edu	37	11	101323804	101323804	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:101323804C>A	uc001pgk.4	-	12	3103	c.2678G>T	c.(2677-2679)aGt>aTt	p.S893I	TRPC6_uc009ywy.3_Missense_Mutation_p.S777I	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	893					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATAGCGGAGACTTGAGATGTC	0.388													A	101323804	C	A	101323804	3	1	201	1	0	0	0	0	1	0	0	0	16580	565	20	5	121	5	TRPC6	11	101323804	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	8792018	101323804	33682712	19	13891											
ANO2	57101	broad.mit.edu	37	12	5908717	5908717	+	Silent	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr12:5908717C>T	uc001qnm.2	-	9	1071	c.999G>A	c.(997-999)gcG>gcA	p.A333A		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	338						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTCCATAGCGCGCCCATTCTT	0.418													T	5908717	C	T	5908717	2	4	201	1	0	0	0	0	0	0	0	1	697	755	27	1		1	ANO2	12	5908717	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08		5908717	127943178	20	13892											
LECT1	11061	broad.mit.edu	37	13	53307443	53307443	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr13:53307443A>G	uc001vhf.2	-	2	376	c.265T>C	c.(265-267)Tca>Cca	p.S89P	LECT1_uc001vhg.2_Missense_Mutation_p.S89P|LECT1_uc001vhh.2_Missense_Mutation_p.S116P	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	89					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ATTTCCATTGACCCATCTTGT	0.363													G	53307443	A	G	53307443	3	3	201	1	0	0	0	0	1	0	0	0	8712	275	10	4	759	4	LECT1	13	53307443	Missense_Mutation	SNP	A	TCGA-28-2499-01A-01D-1494-08		53307443	61862435	21	13893											
TFDP1	7027	broad.mit.edu	37	13	114286001	114286001	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr13:114286001C>A	uc001vtw.3	+	4	462	c.250C>A	c.(250-252)Ccc>Acc	p.P84T	TFDP1_uc010tkd.2_Intron|TFDP1_uc010tke.2_Intron|TFDP1_uc001vty.4_Missense_Mutation_p.P84T|TFDP1_uc010agx.3_Missense_Mutation_p.P84T	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	84					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CCCACACACCCCCAGCACTCA	0.557										TSP Lung(29;0.18)			A	114286001	C	A	114286001	3	1	201	1	0	0	0	0	1	0	0	0	15794	623	22	5	264	5	TFDP1	13	114286001	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	60978558	114286001	883877	22	13894											
WDR72	256764	broad.mit.edu	37	15	53908374	53908374	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr15:53908374C>T	uc002acj.2	-	14	2071	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	WDR72_uc010bfi.1_Missense_Mutation_p.V677I	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	677										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGAAAGCCAACGTTACTCCAT	0.378													T	53908374	C	T	53908374	3	4	201	1	0	0	0	0	1	0	0	0	17319	536	19	1	1303	1	WDR72	15	53908374	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		53908374	48623018	23	13895											
TLN2	83660	broad.mit.edu	37	15	63063321	63063321	+	Silent	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr15:63063321C>T	uc002alb.4	+	38	5355	c.5355C>T	c.(5353-5355)ggC>ggT	p.G1785G	TLN2_uc002alc.4_Silent_p.G178G|TLN2_uc002ald.3_Silent_p.G178G	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1785					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGAAGGTGGCGGAAACCCCA	0.507													T	63063321	C	T	63063321	2	4	201	1	0	0	0	0	0	0	0	1	15945	755	27	1		1	TLN2	15	63063321	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08	9154947	63063321	39468071	24	13896											
AXIN1	8312	broad.mit.edu	37	16	339566	339566	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:339566G>A	uc002cgp.2	-	9	2725	c.2336C>T	c.(2335-2337)cCg>cTg	p.P779L	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.P743L	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	779	Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.P779L(2)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTGTCACACGGCTGGGCACT	0.637													A	339566	G	A	339566	3	1	201	1	0	0	0	0	1	0	0	0	1236	1116	39	2	260	2	AXIN1	16	339566	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		339566	90015187	25	13897											
TEKT5	146279	broad.mit.edu	37	16	10788283	10788283	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:10788283A>G	uc002czz.1	-	0	520	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	150					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GACTTCCAGAAGCCAATGTCC	0.597													G	10788283	A	G	10788283	3	3	201	1	0	0	0	0	1	0	0	0	15753	72	3	4	1037	4	TEKT5	16	10788283	Missense_Mutation	SNP	A	TCGA-28-2499-01A-01D-1494-08	10448717	10788283	79566470	26	13898											
PKD1L2	114780	broad.mit.edu	37	16	81219137	81219137	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:81219137G>A	uc002fgh.1	-	10	1957	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	PKD1L2_uc002fgj.3_Missense_Mutation_p.L653F	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	653	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			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						GACACGTAGAGGCACTGCTCT	0.622													A	81219137	G	A	81219137	3	1	201	1	0	0	0	0	1	0	0	0	11965	1000	35	3	5623	3	PKD1L2	16	81219137	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	70430854	81219137	9135616	27	13899											
SLC13A2	9058	broad.mit.edu	37	17	26822743	26822743	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr17:26822743C>T	uc010wan.2	+	9	1593	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	SLC13A2_uc010wam.2_Missense_Mutation_p.A416V|SLC13A2_uc002hbh.3_Missense_Mutation_p.A460V|SLC13A2_uc010wao.2_Missense_Mutation_p.A417V|SLC13A2_uc002hbi.3_Missense_Mutation_p.A389V	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	460						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAGCCATTGCCATCATCCTC	0.607													T	26822743	C	T	26822743	3	4	201	1	0	0	0	0	1	0	0	0	14392	739	26	3	1564	3	SLC13A2	17	26822743	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		26822743	54372467	28	13900											
GPS1	2873	broad.mit.edu	37	17	80011213	80011213	+	Missense_Mutation	SNP	G	G	A	rs146475501		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr17:80011213G>A	uc002kdk.1	+	1	637	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	RFNG_uc002kdh.3_5'Flank|RFNG_uc021ufl.1_5'Flank|RFNG_uc002kdj.3_5'Flank|GPS1_uc002kdl.1_Missense_Mutation_p.V33I|GPS1_uc010dij.1_Missense_Mutation_p.V73I|GPS1_uc002kdm.1_Missense_Mutation_p.V17I|GPS1_uc002kdn.1_Missense_Mutation_p.V33I|GPS1_uc010wvh.1_Missense_Mutation_p.V25I	NM_212492	NP_997657	Q13098	CSN1_HUMAN	Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.	33					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGCACCTGACGTCAACTACGT	0.667													A	80011213	G	A	80011213	3	1	201	1	0	0	0	0	1	0	0	0	6732	1145	40	1	260	1	GPS1	17	80011213	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	53188470	80011213	1183997	29	13901											
TSPAN16	26526	broad.mit.edu	37	19	11408879	11408879	+	Missense_Mutation	SNP	C	C	T	rs138340787		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:11408879C>T	uc002mqv.1	+	1	281	c.131C>T	c.(130-132)aCg>aTg	p.T44M	TSPAN16_uc002mqu.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	44						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GCCTCTCTGACGAATGTCCTC	0.532													T	11408879	C	T	11408879	3	4	201	1	0	0	0	0	1	0	0	0	16637	536	19	1	137	1	TSPAN16	19	11408879	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		11408879	47720104	30	13902											
CALR	811	broad.mit.edu	37	19	13050871	13050871	+	Silent	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:13050871C>T	uc002mvu.2	+	3	482	c.402C>T	c.(400-402)ccC>ccT	p.P134P		NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	134	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTAGGTCCCGACATCTGTG	0.502													T	13050871	C	T	13050871	2	4	201	1	0	0	0	0	0	0	0	1	2592	639	23	2		2	CALR	19	13050871	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08	1641992	13050871	46078112	31	13903											
PGLYRP2	114770	broad.mit.edu	37	19	15586693	15586693	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:15586693G>A	uc002nbg.3	-	1	921	c.788C>T	c.(787-789)cCc>cTc	p.P263L	PGLYRP2_uc002nbf.4_Missense_Mutation_p.P263L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	263					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AGATGCCTTGGGGTCCAAAAG	0.617													A	15586693	G	A	15586693	3	1	201	1	0	0	0	0	1	0	0	0	11794	1232	43	3	958	3	PGLYRP2	19	15586693	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	2535822	15586693	43542290	32	13904											
ZNF337	26152	broad.mit.edu	37	20	25655873	25655873	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr20:25655873delG	uc002wva.3	-	3	2573	c.2051delC	c.(2050-2052)cctfs	p.P684fs	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Frame_Shift_Del_p.P652fs|ZNF337_uc002wvc.3_Frame_Shift_Del_p.P684fs	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCAAACAAAAGGCTTCTCCTT	0.502													-	25655873	G	-	25655873	7	5	201	1	0	1	0	1	0	0	0	0	17850	1000	35	0	208	0	ZNF337	20	25655873	Frame_Shift_Del	DEL	G	TCGA-28-2499-01A-01D-1494-08		25655873	37369647	33	13905											
PABPC1L	80336	broad.mit.edu	37	20	43559261	43559261	+	Nonsense_Mutation	SNP	T	T	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr20:43559261T>A	uc010ggv.1	+	7	1215	c.1133T>A	c.(1132-1134)tTg>tAg	p.L378*	PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.3_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	378							nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						AAGGCCATCTTGACCAACCAG	0.627													A	43559261	T	A	43559261	4	1	201	1	0	0	0	0	0	1	0	0	11364	1821	63	5	1163	5	PABPC1L	20	43559261	Nonsense_Mutation	SNP	T	TCGA-28-2499-01A-01D-1494-08	17903388	43559261	19466259	34	13906											
SCNN1D	6339	broad.mit.edu	37	1	1222931	1222931	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:1222931A>G	uc001adt.1	+	9	1580	c.1354A>G	c.(1354-1356)Acg>Gcg	p.T452A	SCNN1D_uc001adu.1_Missense_Mutation_p.T288A|SCNN1D_uc001adw.2_Missense_Mutation_p.T354A|SCNN1D_uc001adv.2_Missense_Mutation_p.T288A|SCNN1D_uc001adx.2_Silent_p.T51T	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGCTGCTACACGGTCGATGG	0.677													G	1222931	A	G	1222931	3	3	202	1	0	0	0	0	1	0	0	0	13929	159	6	4	1086	4	SCNN1D	1	1222931	Missense_Mutation	SNP	A	TCGA-28-2501-01A-01D-1696-08		1222931	248027690	1	13907											
ACTL8	81569	broad.mit.edu	37	1	18152553	18152553	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:18152553G>A	uc001bat.3	+	2	856	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	214						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGTGCTACGTGCCGCAGAA	0.567											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18152553	G	A	18152553	3	1	202	1	0	0	0	0	1	0	0	0	202	1145	40	1	646	1	ACTL8	1	18152553	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	16929622	18152553	231098068	2	13908											
SCMH1	22955	broad.mit.edu	37	1	41514522	41514522	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:41514522G>A	uc001cgo.3	-	10	1485	c.1116C>T	c.(1114-1116)caC>caT	p.H372H	SCMH1_uc010ojr.2_Silent_p.H214H|SCMH1_uc001cgp.3_Silent_p.H311H|SCMH1_uc001cgr.3_Silent_p.H311H|SCMH1_uc001cgq.3_Silent_p.H325H|SCMH1_uc001cgs.3_Silent_p.H382H|SCMH1_uc001cgt.3_Silent_p.H311H|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	372					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TCTTATCTAAGTGGGGGCCTG	0.493													A	41514522	G	A	41514522	2	1	202	1	0	0	0	0	0	0	0	1	13908	1020	36	3		3	SCMH1	1	41514522	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	23361969	41514522	207736099	3	13909											
CPT2	1376	broad.mit.edu	37	1	53666396	53666396	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:53666396C>T	uc001cvb.4	+	1	673	c.158C>T	c.(157-159)cCt>cTt	p.P53L		NM_000098	NP_000089	P23786	CPT2_HUMAN	Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.	53					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CCCAGGCTGCCTATTCCCAAA	0.433													T	53666396	C	T	53666396	3	4	202	1	0	0	0	0	1	0	0	0	3834	681	24	3	164	3	CPT2	1	53666396	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	12151874	53666396	195584225	4	13910											
PKLR	5313	broad.mit.edu	37	1	155264053	155264053	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:155264053C>T	uc001fkb.4	-	6	1128	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	PKLR_uc001fka.4_Silent_p.A332A	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	363					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAGGCTTGCCCGCCAAGTTGC	0.577													T	155264053	C	T	155264053	2	4	202	1	0	0	0	0	0	0	0	1	11976	639	23	2		2	PKLR	1	155264053	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	101597657	155264053	93986568	5	13911											
MPZL1	9019	broad.mit.edu	37	1	167757139	167757139	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:167757139C>T	uc001geo.3	+	5	993	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MPZL1_uc001gep.3_3'UTR|MPZL1_uc001geq.3_Missense_Mutation_p.A114V|MPZL1_uc009wvh.3_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	264					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GTGGTGTATGCGGATATCCGA	0.448													T	167757139	C	T	167757139	3	4	202	1	0	0	0	0	1	0	0	0	9749	768	27	1	813	1	MPZL1	1	167757139	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	12493086	167757139	81493482	6	13912											
HMCN1	83872	broad.mit.edu	37	1	185956672	185956672	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:185956672C>G	uc001grq.1	+	19	3273	c.3044C>G	c.(3043-3045)tCc>tGc	p.S1015C	HMCN1_uc001grr.1_Missense_Mutation_p.S356C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1015	Ig-like C2-type 7.				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						GTCATCTGGTCCAAGGTAAAT	0.458													G	185956672	C	G	185956672	3	3	202	1	0	0	0	0	1	0	0	0	7220	855	30	5	3122	5	HMCN1	1	185956672	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	18199533	185956672	63293949	7	13913											
RBBP5	5929	broad.mit.edu	37	1	205065884	205065884	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:205065884G>A	uc010prd.2	-	10	1708	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L	RBBP5_uc010pre.2_Missense_Mutation_p.S314L|RBBP5_uc001hbu.2_Missense_Mutation_p.S441L|RBBP5_uc001hbv.2_Missense_Mutation_p.S441L	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	441					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCCATCTGCTGAGGACTGCCT	0.493													A	205065884	G	A	205065884	3	1	202	1	0	0	0	0	1	0	0	0	13102	1294	45	3	306	3	RBBP5	1	205065884	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	19109212	205065884	44184737	8	13914											
KCNK1	3775	broad.mit.edu	37	1	233802400	233802400	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:233802400G>A	uc010pxo.1	+	1	583	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	139						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CATCTACTCCGTCATTGGCAT	0.582													A	233802400	G	A	233802400	3	1	202	1	0	0	0	0	1	0	0	0	8058	1145	40	1	421	1	KCNK1	1	233802400	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	28736516	233802400	15448221	9	13915											
RYR2	6262	broad.mit.edu	37	1	237947838	237947838	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:237947838G>A	uc001hyl.1	+	89	12946	c.12826G>A	c.(12826-12828)Gtg>Atg	p.V4276M	RYR2_uc010pya.2_Missense_Mutation_p.V691M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4276					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.V4274L(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)			AAAGATGACCGTGAAGGACAT	0.468													A	237947838	G	A	237947838	3	1	202	1	0	0	0	0	1	0	0	0	13769	1145	40	1	13184	1	RYR2	1	237947838	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	4145438	237947838	11302783	10	13916											
NLRP3	114548	broad.mit.edu	37	1	247587842	247587842	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:247587842G>A	uc001icr.3	+	4	1235	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	NLRP3_uc001ics.3_Missense_Mutation_p.R366Q|NLRP3_uc001icu.3_Missense_Mutation_p.R366Q|NLRP3_uc001icw.3_Missense_Mutation_p.R366Q|NLRP3_uc001icv.3_Missense_Mutation_p.R366Q|NLRP3_uc010pyw.2_Missense_Mutation_p.R364Q|NLRP3_uc001ict.1_Missense_Mutation_p.R364Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	366	NACHT.				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			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)			GACCATCCTCGGCATGTGGAG	0.547													A	247587842	G	A	247587842	3	1	202	1	0	0	0	0	1	0	0	0	10478	1116	39	2	1107	2	NLRP3	1	247587842	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	9640004	247587842	1662779	11	13917											
SLC5A7	60482	broad.mit.edu	37	2	108604723	108604723	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:108604723C>T	uc002tdv.3	+	1	388	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.R38C|SLC5A7_uc010ywn.2_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	38					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.R38G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CGCAGAAGAGCGCAGCGAAGC	0.502													T	108604723	C	T	108604723	3	4	202	1	0	0	0	0	1	0	0	0	14670	768	27	1	114	1	SLC5A7	2	108604723	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		108604723	134594650	12	13918											
MYO7B	4648	broad.mit.edu	37	2	128366343	128366343	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:128366343C>T	uc002top.3	+	21	2757	c.2704C>T	c.(2704-2706)Cgc>Tgc	p.R902C		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	902						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			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)		TGCCAAGAAGCGCAGATCCAT	0.652													T	128366343	C	T	128366343	3	4	202	1	0	0	0	0	1	0	0	0	10083	768	27	1	2786	1	MYO7B	2	128366343	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	19761620	128366343	114833030	13	13919											
POTEE	445582	broad.mit.edu	37	2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:131976471G>A	uc002tsn.2	+	0	548	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	166							ATP binding										GGACACTGACGTGAACAAGAA	0.592													A	131976471	G	A	131976471	3	1	202	1	0	0	0	0	1	0	0	0	12264	1145	40	1	498	1	POTEE	2	131976471	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	3610128	131976471	111222902	14	13920											
TTN	7273	broad.mit.edu	37	2	179542438	179542438	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:179542438C>T	uc021vsy.1	-	142	30694	c.30469G>A	c.(30469-30471)Gaa>Aaa	p.E10157K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6818K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11084	Glu-rich.						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)			TATTCTTCTTCGGGAGGAACT	0.453													T	179542438	C	T	179542438	3	4	202	1	0	0	0	0	1	0	0	0	16732	893	31	2	70196	2	TTN	2	179542438	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	47565967	179542438	63656935	15	13921											
TTN	7273	broad.mit.edu	37	2	179639038	179639038	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:179639038C>T	uc021vsy.1	-	29	7178	c.6953G>A	c.(6952-6954)cGt>cAt	p.R2318H	TTN_uc021vsz.1_Missense_Mutation_p.R2272H|TTN_uc021vta.1_Missense_Mutation_p.R2272H|TTN_uc021vtb.1_Missense_Mutation_p.R2272H|TTN_uc002unb.2_Missense_Mutation_p.R2318H|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2318	Ig-like 12.						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)			CTGACGTCCACGACGAGATGT	0.403													T	179639038	C	T	179639038	3	4	202	1	0	0	0	0	1	0	0	0	16732	536	19	1	104367	1	TTN	2	179639038	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	96600	179639038	63560335	16	13922											
DOCK10	55619	broad.mit.edu	37	2	225670162	225670162	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:225670162T>C	uc010fwz.1	-	34	4138	c.3899A>G	c.(3898-3900)aAt>aGt	p.N1300S	DOCK10_uc002vob.2_Missense_Mutation_p.N1294S|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Missense_Mutation_p.N154S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1300							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCTCTTCTCATTGGTACTTGG	0.423													C	225670162	T	C	225670162	3	2	202	1	0	0	0	0	1	0	0	0	4685	1493	52	4	2749	4	DOCK10	2	225670162	Missense_Mutation	SNP	T	TCGA-28-2501-01A-01D-1696-08	46031124	225670162	17529211	17	13923											
UBA7	7318	broad.mit.edu	37	3	49849871	49849871	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:49849871C>T	uc003cxr.3	-	5	835	c.664G>A	c.(664-666)Gac>Aac	p.D222N		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	222	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGATCACAGTCGTTGAGCTCA	0.567													T	49849871	C	T	49849871	3	4	202	1	0	0	0	0	1	0	0	0	16830	884	31	2	2450	2	UBA7	3	49849871	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		49849871	148172559	18	13924											
EPHB1	2047	broad.mit.edu	37	3	134851749	134851749	+	Silent	SNP	C	C	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:134851749C>A	uc003eqt.3	+	4	1530	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_3'UTR|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	385	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G385V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCAGCTGGGCCTGACGGAGT	0.597													A	134851749	C	A	134851749	2	1	202	1	0	0	0	0	0	0	0	1	5174	726	26	5		5	EPHB1	3	134851749	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	85001878	134851749	63170681	19	13925											
HTR3E	285242	broad.mit.edu	37	3	183824082	183824082	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:183824082G>A	uc010hxr.3	+	5	1364	c.1170G>A	c.(1168-1170)gcG>gcA	p.A390A	HTR3E_uc010hxq.3_Silent_p.A364A|HTR3E_uc003fml.4_Silent_p.A349A|HTR3E_uc003fmm.3_Silent_p.A379A|HTR3E_uc003fmn.3_Silent_p.A364A	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	364						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.A379A(1)|p.T390N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTCCCACTGCGCCCCAGAAGG	0.667													A	183824082	G	A	183824082	2	1	202	1	0	0	0	0	0	0	0	1	7448	1074	38	1		1	HTR3E	3	183824082	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	48972333	183824082	14198348	20	13926											
DGKG	1608	broad.mit.edu	37	3	185975697	185975697	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:185975697G>A	uc003fqa.3	-	16	1993	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	DGKG_uc003fqb.3_Missense_Mutation_p.R447C|DGKG_uc003fqc.3_Missense_Mutation_p.R461C|DGKG_uc011brx.2_Missense_Mutation_p.R427C	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	486	DAGKc.				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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCAAAACACGGAAGTCTGGA	0.463													A	185975697	G	A	185975697	3	1	202	1	0	0	0	0	1	0	0	0	4469	1116	39	2	955	2	DGKG	3	185975697	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	2151615	185975697	12046733	21	13927											
BDH1	622	broad.mit.edu	37	3	197238913	197238913	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:197238913C>T	uc003fxr.3	-	7	1287	c.885G>A	c.(883-885)acG>acA	p.T295T	BDH1_uc003fxs.3_Silent_p.T295T|BDH1_uc003fxu.3_Silent_p.T295T	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	295					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TGACAGGGGACGTGTCTGTGG	0.577													T	197238913	C	T	197238913	2	4	202	1	0	0	0	0	0	0	0	1	1390	523	19	1		1	BDH1	3	197238913	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	11263216	197238913	783517	22	13928											
AMBN	258	broad.mit.edu	37	4	71472354	71472354	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr4:71472354G>A	uc003hfl.3	+	12	1352	c.1251G>A	c.(1249-1251)acG>acA	p.T417T		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	417					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGGATACCACGATGGCCCCAA	0.512													A	71472354	G	A	71472354	2	1	202	1	0	0	0	0	0	0	0	1	563	1045	37	2		2	AMBN	4	71472354	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08		71472354	119681922	23	13929											
IRX1	79192	broad.mit.edu	37	5	3600344	3600344	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:3600344G>A	uc003jde.3	+	1	1334	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	428						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGAGACAAGGCCTCGGTCCG	0.697													A	3600344	G	A	3600344	3	1	202	1	0	0	0	0	1	0	0	0	7843	1203	42	3	1288	3	IRX1	5	3600344	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		3600344	177314916	24	13930											
CMYA5	202333	broad.mit.edu	37	5	79026546	79026546	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:79026546T>C	uc003kgc.3	+	1	2030	c.1958T>C	c.(1957-1959)cTc>cCc	p.L653P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	653						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGCTCTCTCTCACCATCC	0.458													C	79026546	T	C	79026546	3	2	202	1	0	0	0	0	1	0	0	0	3590	1551	54	4	1964	4	CMYA5	5	79026546	Missense_Mutation	SNP	T	TCGA-28-2501-01A-01D-1696-08	75426202	79026546	101888714	25	13931											
ABLIM3	22885	broad.mit.edu	37	5	148617052	148617052	+	Silent	SNP	G	G	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:148617052G>T	uc003lpy.2	+	10	1181	c.930G>T	c.(928-930)gcG>gcT	p.A310A	ABLIM3_uc003lpz.1_Silent_p.A310A|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Silent_p.A310A|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	310					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCTGGCGGCTCTCCCCA	0.468													T	148617052	G	T	148617052	2	4	202	1	0	0	0	0	0	0	0	1	96	1103	39	5		5	ABLIM3	5	148617052	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	69590506	148617052	32298208	26	13932											
SLIT3	6586	broad.mit.edu	37	5	168620553	168620553	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:168620553G>A	uc010jjg.3	-	4	762	c.342_splice	c.e4-1	p.L114_splice	SLIT3_uc003mab.3_Splice_Site_p.L114_splice|SLIT3_uc010jji.2_Splice_Site_p.L114_splice	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	114					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.R115C(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)			TTGTTCAGGCGCCTAAAGAGG	0.438													A	168620553	G	A	168620553	3	1	202	1	0	0	0	0	1	0	0	0	14741	1101	38	1	4360	1	SLIT3	5	168620553	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	20003501	168620553	12294707	27	13933											
MDC1	9656	broad.mit.edu	37	6	30682871	30682871	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr6:30682871C>T	uc003nrg.4	-	1	522	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Missense_Mutation_p.V28M	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	28	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACTGGCTCCACGTTACACCTC	0.458								Other conserved DNA damage response genes					T	30682871	C	T	30682871	3	4	202	1	0	0	0	0	1	0	0	0	9403	536	19	1	6243	1	MDC1	6	30682871	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		30682871	140432196	28	13934											
IER3	8870	broad.mit.edu	37	6	30711832	30711832	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr6:30711832C>T	uc003nrn.3	-	1	384	c.352G>A	c.(352-354)Gca>Aca	p.A118T	FLOT1_uc003nrm.3_5'Flank|FLOT1_uc011dmr.2_5'Flank	NM_003897	NP_003888	P46695	IEX1_HUMAN	Homo sapiens immediate early response 3 (IER3), mRNA.	118					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						GCCAGGGATGCGGCGTTAGGG	0.627													T	30711832	C	T	30711832	3	4	202	1	0	0	0	0	1	0	0	0	7506	768	27	1	122	1	IER3	6	30711832	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	28961	30711832	140403235	29	13935											
BBS9	27241	broad.mit.edu	37	7	33397475	33397475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:33397475C>T	uc003tdn.1	+	15	2074	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	521			R -> Q (in dbSNP:rs34218557).		fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R521Q(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGGCATTCCGCGAGTTATCCA	0.323									Bardet-Biedl syndrome				T	33397475	C	T	33397475	4	4	202	1	0	0	0	0	0	1	0	0	1342	760	27	1	1619	1	BBS9	7	33397475	Nonsense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		33397475	125741188	30	13936											
PCLO	27445	broad.mit.edu	37	7	82584801	82584801	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:82584801G>A	uc003uhx.2	-	4	5757	c.5468C>T	c.(5467-5469)cCa>cTa	p.P1823L	PCLO_uc003uhv.2_Missense_Mutation_p.P1823L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1754					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1822M(1)		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						TGGTGTCTTTGGCCTTTCCCT	0.423													A	82584801	G	A	82584801	3	1	202	1	0	0	0	0	1	0	0	0	11583	1348	47	3	10061	3	PCLO	7	82584801	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	49187326	82584801	76553862	31	13937											
DMTF1	9988	broad.mit.edu	37	7	86815172	86815172	+	Silent	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:86815172A>G	uc003uih.3	+	11	1403	c.1077A>G	c.(1075-1077)gaA>gaG	p.E359E	DMTF1_uc003uii.3_Silent_p.E93E|DMTF1_uc003uij.3_Silent_p.E93E|DMTF1_uc011khb.2_Silent_p.E271E|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Silent_p.E359E|DMTF1_uc003uin.3_Silent_p.E93E	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	359	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 2.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCTGATGAAAATGACATTA	0.398													G	86815172	A	G	86815172	2	3	202	1	0	0	0	0	0	0	0	1	4592	11	1	4		4	DMTF1	7	86815172	Silent	SNP	A	TCGA-28-2501-01A-01D-1696-08	4230371	86815172	72323491	32	13938											
CNTNAP2	26047	broad.mit.edu	37	7	146997320	146997320	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:146997320C>T	uc003weu.2	+	8	1952	c.1436C>T	c.(1435-1437)gCa>gTa	p.A479V	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	479	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAGATGAAGCATCAGCAGTT	0.428										HNSCC(39;0.1)			T	146997320	C	T	146997320	3	4	202	1	0	0	0	0	1	0	0	0	3647	710	25	3	1470	3	CNTNAP2	7	146997320	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	60182148	146997320	12141343	33	13939											
DOCK8	81704	broad.mit.edu	37	9	404947	404947	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:404947G>A	uc003zgf.2	+	26	3376	c.3264G>A	c.(3262-3264)acG>acA	p.T1088T	DOCK8_uc022bcu.1_Silent_p.T1020T|DOCK8_uc010mgv.3_Silent_p.T988T|DOCK8_uc010mgu.3_Silent_p.T390T|DOCK8_uc010mgw.2_Silent_p.T390T|DOCK8_uc003zgk.2_Silent_p.T546T	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1088					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACCTTCCAACGCTCATTTCCA	0.418													A	404947	G	A	404947	2	1	202	1	0	0	0	0	0	0	0	1	4693	1074	38	1		1	DOCK8	9	404947	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08		404947	140808484	34	13940											
ANKS6	203286	broad.mit.edu	37	9	101533299	101533299	+	Silent	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:101533299G>A	uc004ayu.3	-	9	1872	c.1851C>T	c.(1849-1851)agC>agT	p.S617S	ANKS6_uc004ayv.2_Silent_p.S79S|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.S316S	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	617	Ser-rich.							p.P616S(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTCTGGGGAGGCTTGGAAATT	0.582													A	101533299	G	A	101533299	2	1	202	1	0	0	0	0	0	0	0	1	692	1194	42	3		3	ANKS6	9	101533299	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	101128352	101533299	39680132	35	13941											
BRD3	8019	broad.mit.edu	37	9	136918434	136918434	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:136918434C>T	uc004cew.3	-	1	354	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	BRD3_uc004cex.2_Missense_Mutation_p.A56T	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	56	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGGGCCAGGCGAACTGGTGT	0.617			T	C15orf55	lethal midline carcinoma of young people								T	136918434	C	T	136918434	3	4	202	1	0	0	0	0	1	0	0	0	1503	768	27	1	2058	1	BRD3	9	136918434	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	35385135	136918434	4294997	36	13942											
MYO3A	53904	broad.mit.edu	37	10	26465747	26465747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr10:26465747C>T	uc001isn.2	+	30	4771	c.4411C>T	c.(4411-4413)Cga>Tga	p.R1471*	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1471					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			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						AATTAATAGACGAGTTTCTTC	0.378													T	26465747	C	T	26465747	4	4	202	1	0	0	0	0	0	1	0	0	10076	528	19	1	4525	1	MYO3A	10	26465747	Nonsense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		26465747	109069000	37	13943											
OR5D16	390144	broad.mit.edu	37	11	55606359	55606359	+	Silent	SNP	T	T	C			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:55606359T>C	uc010rio.2	+	0	132	c.132T>C	c.(130-132)aaT>aaC	p.N44N		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGGTAGGGAATCTTGGGATGA	0.438													C	55606359	T	C	55606359	2	2	202	1	0	0	0	0	0	0	0	1	11156	1432	50	4		4	OR5D16	11	55606359	Silent	SNP	T	TCGA-28-2501-01A-01D-1696-08		55606359	79400157	38	13944											
OR5AR1	219493	broad.mit.edu	37	11	56431688	56431688	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:56431688A>G	uc010rjm.2	+	0	527	c.527A>G	c.(526-528)cAt>cGt	p.H176R	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATCATCAATCATTTCTTCTGC	0.488													G	56431688	A	G	56431688	3	3	202	1	0	0	0	0	1	0	0	0	11145	217	8	4	529	4	OR5AR1	11	56431688	Missense_Mutation	SNP	A	TCGA-28-2501-01A-01D-1696-08	825329	56431688	78574828	39	13945											
LRRC32	2615	broad.mit.edu	37	11	76372493	76372493	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:76372493C>T	uc001oxq.4	-	2	387	c.144G>A	c.(142-144)ccG>ccA	p.P48P	LRRC32_uc001oxr.4_Silent_p.P48P|LRRC32_uc010rsf.2_Silent_p.P48P	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	48						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGTGTCTGGCGGGAGCACCG	0.622													T	76372493	C	T	76372493	2	4	202	1	0	0	0	0	0	0	0	1	8987	755	27	1		1	LRRC32	11	76372493	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	19940805	76372493	58634023	40	13946											
PTPRR	5801	broad.mit.edu	37	12	71078010	71078010	+	Missense_Mutation	SNP	G	G	A	rs150540173		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr12:71078010G>A	uc001swi.2	-	9	1808	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M	PTPRR_uc001swh.2_Missense_Mutation_p.T220M|PTPRR_uc009zrs.3_Missense_Mutation_p.T259M|PTPRR_uc010stq.2_Missense_Mutation_p.T353M|PTPRR_uc010str.1_Missense_Mutation_p.T314M	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	465	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGGCCCTGCGTGGCAATGAA	0.433													A	71078010	G	A	71078010	3	1	202	1	0	0	0	0	1	0	0	0	12810	1145	40	1	599	1	PTPRR	12	71078010	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		71078010	62773885	41	13947											
CHD8	57680	broad.mit.edu	37	14	21897194	21897194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr14:21897194G>A	uc001war.2	-	1	1209	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	CHD8_uc001was.2_Nonsense_Mutation_p.Q103*	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	382	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCATTATCTGAGCCTGCTGT	0.517													A	21897194	G	A	21897194	4	1	202	1	0	0	0	0	0	1	0	0	3331	1299	45	3	6745	3	CHD8	14	21897194	Nonsense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		21897194	85452346	42	13948											
EPB42	2038	broad.mit.edu	37	15	43499515	43499515	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:43499515C>T	uc001zrb.4	-	8	1590	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E	EPB42_uc001zqz.4_Silent_p.E67E|EPB42_uc001zra.4_Silent_p.E400E|EPB42_uc010udm.2_Silent_p.E322E	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	400					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-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;8.7e-07)		GTGTCCCATCCTCACAGCACT	0.552													T	43499515	C	T	43499515	2	4	202	1	0	0	0	0	0	0	0	1	5158	680	24	3		3	EPB42	15	43499515	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08		43499515	59031877	43	13949											
CILP	8483	broad.mit.edu	37	15	65489544	65489544	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:65489544A>G	uc002aon.2	-	8	3261	c.3080T>C	c.(3079-3081)gTc>gCc	p.V1027A		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	1027					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTGGGGGATGACCTTCACCAG	0.592													G	65489544	A	G	65489544	3	3	202	1	0	0	0	0	1	0	0	0	3429	275	10	4	478	4	CILP	15	65489544	Missense_Mutation	SNP	A	TCGA-28-2501-01A-01D-1696-08	21990029	65489544	37041848	44	13950											
DNAH2	146754	broad.mit.edu	37	17	7643079	7643079	+	Missense_Mutation	SNP	G	G	A	rs145686578		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:7643079G>A	uc002giu.1	+	7	1213	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	DNAH2_uc002git.3_Missense_Mutation_p.R482H|DNAH2_uc010vuk.2_Missense_Mutation_p.R400H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	400	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R400H(2)|p.A399V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACTTCGCCCGCTGGGAAGAT	0.483													A	7643079	G	A	7643079	3	1	202	1	0	0	0	0	1	0	0	0	4602	1087	38	1	1229	1	DNAH2	17	7643079	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		7643079	73552131	45	13951											
DNAH9	1770	broad.mit.edu	37	17	11650946	11650946	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:11650946C>T	uc002gne.3	+	31	6541	c.6473C>T	c.(6472-6474)tCa>tTa	p.S2158L	DNAH9_uc010coo.3_Missense_Mutation_p.S1452L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2158	AAA 2 (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			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)		ACCGGCAAGTCACAGGTGCTG	0.562													T	11650946	C	T	11650946	3	4	202	1	0	0	0	0	1	0	0	0	4608	838	29	3	6599	3	DNAH9	17	11650946	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	4007867	11650946	69544264	46	13952											
ITGB3	3690	broad.mit.edu	37	17	45376748	45376748	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:45376748C>T	uc002ilj.3	+	10	1785	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	589	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTGTACCACGCGTACTGACAC	0.607													T	45376748	C	T	45376748	3	4	202	1	0	0	0	0	1	0	0	0	7895	768	27	1	1807	1	ITGB3	17	45376748	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	33725802	45376748	35818462	47	13953											
SPAG9	9043	broad.mit.edu	37	17	49062314	49062314	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:49062314C>T	uc002itc.3	-	23	3267	c.3058G>A	c.(3058-3060)Ggc>Agc	p.G1020S	SPAG9_uc002itd.3_Missense_Mutation_p.G1010S|SPAG9_uc002itb.3_Missense_Mutation_p.G1006S|SPAG9_uc002ita.3_Missense_Mutation_p.G863S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	1020					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCAAGGGTGCCGTCAGCCAGG	0.458													T	49062314	C	T	49062314	3	4	202	1	0	0	0	0	1	0	0	0	14985	652	23	2	935	2	SPAG9	17	49062314	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	3685566	49062314	32132896	48	13954											
CD300LB	124599	broad.mit.edu	37	17	72521999	72521999	+	Silent	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:72521999C>T	uc002jkx.2	-	1	382	c.369G>A	c.(367-369)acG>acA	p.T123T	CD300LB_uc010wqz.1_Silent_p.T123T	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCACAGTGAACGTGCGGTCTT	0.517													T	72521999	C	T	72521999	2	4	202	1	0	0	0	0	0	0	0	1	2999	523	19	1		1	CD300LB	17	72521999	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	23459685	72521999	8673211	49	13955											
EVPL	2125	broad.mit.edu	37	17	74005267	74005267	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:74005267G>A	uc010wss.1	-	21	4313	c.4085C>T	c.(4084-4086)gCg>gTg	p.A1362V	EVPL_uc002jqi.2_Missense_Mutation_p.A1340V|EVPL_uc010wst.1_Missense_Mutation_p.A810V	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1340	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTCTGGGCCGCCTCCCGCAC	0.672													A	74005267	G	A	74005267	3	1	202	1	0	0	0	0	1	0	0	0	5292	1087	38	1	2086	1	EVPL	17	74005267	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	1483268	74005267	7189943	50	13956											
ENGASE	64772	broad.mit.edu	37	17	77073797	77073797	+	Silent	SNP	G	G	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:77073797G>T	uc002jwv.3	+	2	275	c.267G>T	c.(265-267)tcG>tcT	p.S89S	ENGASE_uc002jwu.1_Silent_p.S89S|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	89						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACTTGTCTTCGCTGGAGGAGC	0.527													T	77073797	G	T	77073797	2	4	202	1	0	0	0	0	0	0	0	1	5118	1074	38	5		5	ENGASE	17	77073797	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	3068530	77073797	4121413	51	13957											
DENND1C	79958	broad.mit.edu	37	19	6479059	6479059	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr19:6479059G>A	uc002mfe.3	-	4	277	c.185C>T	c.(184-186)cCc>cTc	p.P62L	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.P18L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	62	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGCGGGGCTGGGGGGCTCCCT	0.632													A	6479059	G	A	6479059	3	1	202	1	0	0	0	0	1	0	0	0	4428	1232	43	3	2296	3	DENND1C	19	6479059	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		6479059	52649924	52	13958											
MUC16	94025	broad.mit.edu	37	19	9069613	9069613	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr19:9069613C>T	uc002mkp.3	-	2	18037	c.17833G>A	c.(17833-17835)Gca>Aca	p.A5945T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5947	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						CCTGATACTGCGGAATAAAGA	0.512													T	9069613	C	T	9069613	3	4	202	1	0	0	0	0	1	0	0	0	9973	768	27	1	26018	1	MUC16	19	9069613	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	2590554	9069613	50059370	53	13959											
MC3R	4159	broad.mit.edu	37	20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr20:54824818C>T	uc002xxb.2	+	0	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	344					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.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517													T	54824818	C	T	54824818	3	4	202	1	0	0	0	0	1	0	0	0	9365	768	27	1	921	1	MC3R	20	54824818	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		54824818	8200702	54	13960											
TPTE	7179	broad.mit.edu	37	21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr21:10969096C>T	uc002yip.1	-	6	520	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	51					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		AGGTGACACCCGGGCTGCTCC	0.453													T	10969096	C	T	10969096	3	4	202	1	0	0	0	0	1	0	0	0	16427	652	23	2	1575	2	TPTE	21	10969096	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		10969096	37160799	55	13961											
MYO18B	84700	broad.mit.edu	37	22	26228907	26228907	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr22:26228907C>A	uc003abz.1	+	15	3253	c.3003C>A	c.(3001-3003)gaC>gaA	p.D1001E	MYO18B_uc003aca.1_Missense_Mutation_p.D882E|MYO18B_uc010guy.1_Missense_Mutation_p.D882E|MYO18B_uc010guz.1_Missense_Mutation_p.D882E|MYO18B_uc011aka.1_Missense_Mutation_p.D155E|MYO18B_uc011akb.1_Missense_Mutation_p.D514E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1001	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCAGTTTGACCTCCCGGACC	0.507													A	26228907	C	A	26228907	3	1	202	1	0	0	0	0	1	0	0	0	10066	506	18	5	3061	5	MYO18B	22	26228907	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		26228907	25075659	56	13962											
FMR1NB	158521	broad.mit.edu	37	X	147088330	147088330	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chrX:147088330C>T	uc004fcm.3	+	2	580	c.506C>T	c.(505-507)aCg>aTg	p.T169M		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	169	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGGGACCACGAGCTTCAAA	0.368													T	147088330	C	T	147088330	3	4	202	1	0	0	0	0	1	0	0	0	5961	536	19	1	516	1	FMR1NB	23	147088330	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		147088330	8182230	57	13963											
MTOR	2475	broad.mit.edu	37	1	11188183	11188183	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:11188183C>T	uc001asd.3	-	43	6032	c.5911_splice	c.e43-1	p.A1971_splice	MTOR_uc001asc.3_Splice_Site_p.A176_splice	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1971	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TAGATGAGGGCCTGAGGGAAA	0.458													T	11188183	C	T	11188183	3	4	203	1	0	0	0	0	1	0	0	0	9954	753	26	3	1802	3	MTOR	1	11188183	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		11188183	238062438	1	13964											
C1QC	714	broad.mit.edu	37	1	22973963	22973963	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:22973963C>T	uc001bgc.4	+	2	528	c.425C>T	c.(424-426)gCg>gTg	p.A142V	C1QC_uc001bga.4_Missense_Mutation_p.A142V	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	142	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	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)	AGATTCAACGCGGTCCTCACC	0.567													T	22973963	C	T	22973963	3	4	203	1	0	0	0	0	1	0	0	0	1957	768	27	1	431	1	C1QC	1	22973963	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	11785780	22973963	226276658	2	13965											
SPOCD1	90853	broad.mit.edu	37	1	32279589	32279589	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:32279589C>T	uc001bts.1	-	1	1404	c.1346G>A	c.(1345-1347)aGg>aAg	p.R449K	SPOCD1_uc001btu.3_Missense_Mutation_p.R449K|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	449					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTCCTCTGGCCTGTCCTGGTG	0.567													T	32279589	C	T	32279589	3	4	203	1	0	0	0	0	1	0	0	0	15077	681	24	3	2364	3	SPOCD1	1	32279589	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	9305626	32279589	216971032	3	13966											
LPAR3	23566	broad.mit.edu	37	1	85331474	85331474	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:85331474G>A	uc001dkl.2	-	0	369	c.330C>T	c.(328-330)gaC>gaT	p.D110D	LPAR3_uc009wcj.1_Silent_p.D110D	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	110					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCAAGCTACTGTCCAGAAGCC	0.493													A	85331474	G	A	85331474	2	1	203	1	0	0	0	0	0	0	0	1	8906	1368	48	3		3	LPAR3	1	85331474	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	53051885	85331474	163919147	4	13967											
WDR63	126820	broad.mit.edu	37	1	85564213	85564213	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:85564213C>G	uc001dkt.3	+	13	1542	c.1351_splice	c.e13-1	p.P451_splice	WDR63_uc009wcl.3_Splice_Site_p.P412_splice	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	451										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATTTTTCAGCCTATGTTTCT	0.318													G	85564213	C	G	85564213	3	3	203	1	0	0	0	0	1	0	0	0	17311	753	26	5	1397	5	WDR63	1	85564213	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	232739	85564213	163686408	5	13968											
ADAM30	11085	broad.mit.edu	37	1	120438173	120438173	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:120438173G>A	uc001eij.3	-	0	975	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	263	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATCCAACGCGTATTTTGTTA	0.358													A	120438173	G	A	120438173	3	1	203	1	0	0	0	0	1	0	0	0	248	1145	40	1	1589	1	ADAM30	1	120438173	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	34873960	120438173	128812448	6	13969											
FLG	2312	broad.mit.edu	37	1	152277058	152277058	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:152277058C>T	uc001ezu.1	-	2	10340	c.10304G>A	c.(10303-10305)cGt>cAt	p.R3435H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3435	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			CGGGTGTCCACGAATGGTGTC	0.602									Ichthyosis				T	152277058	C	T	152277058	3	4	203	1	0	0	0	0	1	0	0	0	5922	536	19	1	1885	1	FLG	1	152277058	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	31838885	152277058	96973563	7	13970											
FBLN2	2199	broad.mit.edu	37	3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:13679189G>A	uc011avc.2	+	17	3848	c.3466G>A	c.(3466-3468)Gcg>Acg	p.A1156T	FBLN2_uc011auz.2_Missense_Mutation_p.A1135T|FBLN2_uc011avb.2_Missense_Mutation_p.A1109T|FBLN2_uc011ava.2_Missense_Mutation_p.A1156T	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1156T(2)|p.A575T(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATTGGCCCCGCGCCAGCCTT	0.622													A	13679189	G	A	13679189	3	1	203	1	0	0	0	0	1	0	0	0	5699	1087	38	1	2222	1	FBLN2	3	13679189	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		13679189	184343241	8	13971											
SCN10A	6336	broad.mit.edu	37	3	38833608	38833608	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:38833608G>A	uc003ciq.3	-	1	322	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	108					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACAGGGCCCGAGTGGCACTA	0.463													A	38833608	G	A	38833608	3	1	203	1	0	0	0	0	1	0	0	0	13912	1057	37	2	5652	2	SCN10A	3	38833608	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	25154419	38833608	159188822	9	13972											
CCDC71	64925	broad.mit.edu	37	3	49200468	49200468	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:49200468T>C	uc003cwg.4	-	1	1312	c.1174A>G	c.(1174-1176)Agg>Ggg	p.R392G	CCDC71_uc021wxs.1_Missense_Mutation_p.R392G	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	392										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCTCAGCCCTTTTCCTCTTC	0.572													C	49200468	T	C	49200468	3	2	203	1	0	0	0	0	1	0	0	0	2844	1608	56	4	233	4	CCDC71	3	49200468	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08	10366860	49200468	148821962	10	13973											
GPR128	84873	broad.mit.edu	37	3	100365559	100365559	+	Silent	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:100365559T>C	uc003duc.3	+	9	1525	c.1257T>C	c.(1255-1257)gcT>gcC	p.A419A	GPR128_uc011bhc.2_Silent_p.A120A	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	419	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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						CTAATTTTGCTGTATTAATGG	0.413													C	100365559	T	C	100365559	2	2	203	1	0	0	0	0	0	0	0	1	6641	1567	55	4		4	GPR128	3	100365559	Silent	SNP	T	TCGA-28-2502-01B-01D-1494-08	51165091	100365559	97656871	11	13974											
PHLDB2	90102	broad.mit.edu	37	3	111603461	111603461	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:111603461G>C	uc010hqa.3	+	1	948	c.537G>C	c.(535-537)atG>atC	p.M179I	PHLDB2_uc003dyc.3_Missense_Mutation_p.M206I|PHLDB2_uc003dyd.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyg.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyh.3_Missense_Mutation_p.M179I|PHLDB2_uc003dye.4_Missense_Mutation_p.M179I|PHLDB2_uc003dyf.4_Missense_Mutation_p.M179I	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	179						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCCTGGCCATGTGGAATGGAA	0.537													C	111603461	G	C	111603461	3	2	203	1	0	0	0	0	1	0	0	0	11852	1377	48	5	624	5	PHLDB2	3	111603461	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	11237902	111603461	86418969	12	13975											
CASR	846	broad.mit.edu	37	3	122003132	122003132	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:122003132C>T	uc003eew.4	+	6	2799	c.2361C>T	c.(2359-2361)atC>atT	p.I787I	CASR_uc003eev.4_Silent_p.I777I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	777					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCTTCCTGATCGGCTACACCT	0.582													T	122003132	C	T	122003132	2	4	203	1	0	0	0	0	0	0	0	1	2682	874	31	2		2	CASR	3	122003132	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	10399671	122003132	76019298	13	13976											
UGT2B28	54490	broad.mit.edu	37	4	70146911	70146911	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr4:70146911G>T	uc003hej.3	+	0	695	c.693G>T	c.(691-693)aaG>aaT	p.K231N	UGT2B28_uc010ihr.3_Missense_Mutation_p.K231N	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	231					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATATGAAGAAGTGGGATCAGT	0.323													T	70146911	G	T	70146911	3	4	203	1	0	0	0	0	1	0	0	0	16957	1020	36	5	695	5	UGT2B28	4	70146911	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		70146911	121007365	14	13977											
INTS12	57117	broad.mit.edu	37	4	106604288	106604288	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr4:106604288C>T	uc003hxw.3	-	7	1249	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	INTS12_uc010ilr.3_Missense_Mutation_p.V331M	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	331	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GTCAAACCCACAGGTTTCTGG	0.448													T	106604288	C	T	106604288	3	4	203	1	0	0	0	0	1	0	0	0	7777	478	17	3	401	3	INTS12	4	106604288	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	36457377	106604288	84549988	15	13978											
CDH18	1016	broad.mit.edu	37	5	19544080	19544080	+	Missense_Mutation	SNP	A	A	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr5:19544080A>T	uc003jgd.3	-	8	1822	c.1288T>A	c.(1288-1290)Ttt>Att	p.F430I	CDH18_uc011cnm.2_Missense_Mutation_p.F430I|CDH18_uc003jgc.3_Missense_Mutation_p.F430I|CDH18_uc021xwu.1_Missense_Mutation_p.F430I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	430	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGTTGAAAAATCTGTCGTCT	0.353													T	19544080	A	T	19544080	3	4	203	1	0	0	0	0	1	0	0	0	3103	101	4	5	1104	5	CDH18	5	19544080	Missense_Mutation	SNP	A	TCGA-28-2502-01B-01D-1494-08		19544080	161371180	16	13979											
MAP1B	4131	broad.mit.edu	37	5	71490832	71490832	+	Silent	SNP	A	A	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr5:71490832A>G	uc003kbw.4	+	4	1891	c.1650A>G	c.(1648-1650)aaA>aaG	p.K550K	MAP1B_uc010iyw.1_Silent_p.K567K|MAP1B_uc010iyx.1_Silent_p.K424K|MAP1B_uc010iyy.1_Silent_p.K424K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	550						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCCGCAAAACCACTTCCTA	0.493													G	71490832	A	G	71490832	2	3	203	1	0	0	0	0	0	0	0	1	9228	40	2	4		4	MAP1B	5	71490832	Silent	SNP	A	TCGA-28-2502-01B-01D-1494-08	51946752	71490832	109424428	17	13980											
HIST1H2BA	255626	broad.mit.edu	37	6	25727356	25727356	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:25727356C>T	uc003nfd.3	+	0	220	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	74					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						TATCTTTGAGCGTATAGCGAG	0.483													T	25727356	C	T	25727356	3	4	203	1	0	0	0	0	1	0	0	0	7140	768	27	1	222	1	HIST1H2BA	6	25727356	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		25727356	145387711	18	13981											
HIST1H2BE	8344	broad.mit.edu	37	6	26184091	26184093	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:26184091_26184093delAGA	uc003ngt.3	+	0	68_70	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del		NM_003523	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						ACCAAGGCGCAGAAGAAGGACGG	0.576													-	26184093	AGA	-	26184091	7	5	203	1	0	1	0	1	0	0	0	0	7144	188	7	0	70	0	HIST1H2BE	6	26184091	In_Frame_Del	DEL	AGA	TCGA-28-2502-01B-01D-1494-08	456735	26184091	144930976	19	13982											
TRIM10	10107	broad.mit.edu	37	6	30121907	30121907	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:30121907G>A	uc003npo.3	-	6	1361	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	429	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CTCACCTGCCGGGGCTGCTCC	0.642													A	30121907	G	A	30121907	3	1	203	1	0	0	0	0	1	0	0	0	16483	1115	39	2	252	2	TRIM10	6	30121907	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	3937816	30121907	140993160	20	13983											
MICB	4277	broad.mit.edu	37	6	31474137	31474137	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:31474137C>T	uc003ntn.4	+	2	659	c.543C>T	c.(541-543)cgC>cgT	p.R181R	MICB_uc011dnm.2_Silent_p.R149R|MICB_uc021yuq.1_Silent_p.R149R|MICB_uc003nto.4_Silent_p.R138R	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	181					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CACACTATCGCGCTATGCAGG	0.532													T	31474137	C	T	31474137	2	4	203	1	0	0	0	0	0	0	0	1	9575	755	27	1		1	MICB	6	31474137	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	1352230	31474137	139640930	21	13984											
MEP1A	4224	broad.mit.edu	37	6	46797155	46797155	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:46797155G>A	uc011dwh.1	+	8	1083	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	MEP1A_uc010jzh.1_Missense_Mutation_p.E331K|MEP1A_uc011dwg.1_Missense_Mutation_p.E53K|MEP1A_uc011dwi.1_Missense_Mutation_p.E231K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	331	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.V359I(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGCCCTACTGGAGTCTCGGAT	0.532													A	46797155	G	A	46797155	3	1	203	1	0	0	0	0	1	0	0	0	9475	1175	41	3	1029	3	MEP1A	6	46797155	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	15323018	46797155	124317912	22	13985											
GPR116	221395	broad.mit.edu	37	6	46845996	46845996	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:46845996C>A	uc003oyo.3	-	9	1472	c.1183G>T	c.(1183-1185)Ggt>Tgt	p.G395C	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G395C|GPR116_uc010jzi.1_Missense_Mutation_p.G67C|GPR116_uc003oyr.2_Missense_Mutation_p.G395C	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	395	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTAACATTACCCTGACTGCAG	0.373													A	46845996	C	A	46845996	3	1	203	1	0	0	0	0	1	0	0	0	6633	623	22	5	2905	5	GPR116	6	46845996	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	48841	46845996	124269071	23	13986											
SYNE1	23345	broad.mit.edu	37	6	152527476	152527476	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:152527476G>A	uc021zhb.1	-	123	23069	c.22846C>T	c.(22846-22848)Cgg>Tgg	p.R7616W	SYNE1_uc003qos.4_Missense_Mutation_p.R2140W|SYNE1_uc003qot.4_Missense_Mutation_p.R7545W|SYNE1_uc003qou.4_Missense_Mutation_p.R7616W|SYNE1_uc003qor.4_Missense_Mutation_p.R516W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7616					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			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)		CCTTGTTGCCGCAGAAACACT	0.483										HNSCC(10;0.0054)			A	152527476	G	A	152527476	3	1	203	1	0	0	0	0	1	0	0	0	15442	1086	38	1	3704	1	SYNE1	6	152527476	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	105681480	152527476	18587591	24	13987											
UNC93A	54346	broad.mit.edu	37	6	167709567	167709567	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:167709567C>T	uc003qvq.3	+	2	492	c.317C>T	c.(316-318)cCg>cTg	p.P106L	UNC93A_uc003qvr.3_Missense_Mutation_p.P106L	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	106						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGCCGCCCCGCTGTGGTCT	0.557													T	167709567	C	T	167709567	3	4	203	1	0	0	0	0	1	0	0	0	16993	652	23	2	327	2	UNC93A	6	167709567	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	15182091	167709567	3405500	25	13988											
SDK1	221935	broad.mit.edu	37	7	4153883	4153883	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:4153883T>C	uc003smx.3	+	24	3939	c.3800T>C	c.(3799-3801)gTg>gCg	p.V1267A	SDK1_uc010kso.3_Missense_Mutation_p.V543A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1267	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGAGGTGGTGCGGGGCCGG	0.637													C	4153883	T	C	4153883	3	2	203	1	0	0	0	0	1	0	0	0	13968	1696	59	4	3898	4	SDK1	7	4153883	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		4153883	154984780	26	13989											
ZNF679	168417	broad.mit.edu	37	7	63727109	63727109	+	Silent	SNP	T	T	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:63727109T>A	uc003tsx.3	+	4	1367	c.1098T>A	c.(1096-1098)acT>acA	p.T366T		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCTCCTCAACTCTTAATACTC	0.378													A	63727109	T	A	63727109	2	1	203	1	0	0	0	0	0	0	0	1	18083	1538	54	5		5	ZNF679	7	63727109	Silent	SNP	T	TCGA-28-2502-01B-01D-1494-08	59573226	63727109	95411554	27	13990											
MUC17	140453	broad.mit.edu	37	7	100696360	100696360	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:100696360C>T	uc003uxp.1	+	9	13250	c.13197C>T	c.(13195-13197)gtC>gtT	p.V4399V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4399						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.G4398G(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)					GGGCAGGGGTCGTGCTGATGC	0.587													T	100696360	C	T	100696360	2	4	203	1	0	0	0	0	0	0	0	1	9974	871	31	2		2	MUC17	7	100696360	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	36969251	100696360	58442303	28	13991											
OR2A1	346528	broad.mit.edu	37	7	143929644	143929644	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:143929644G>A	uc011kub.2	-	0	293	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T98M(1)		large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					AAAGGTCTGCGTCATGCAACC	0.572													A	143929644	G	A	143929644	3	1	203	1	0	0	0	0	1	0	0	0	10974	1145	40	1		1	OR2A1	7	143929644	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	43233284	143929644	15209019	29	13992											
NOBOX	135935	broad.mit.edu	37	7	144098530	144098530	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:144098530G>A	uc022aoj.1	-	3	453	c.453C>T	c.(451-453)acC>acT	p.T151T		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	151					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CATCAGCCCCGGTGGCTTCTC	0.637													A	144098530	G	A	144098530	2	1	203	1	0	0	0	0	0	0	0	1	10512	1103	39	2		2	NOBOX	7	144098530	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	168886	144098530	15040133	30	13993											
CALB1	793	broad.mit.edu	37	8	91094855	91094855	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr8:91094855T>C	uc003yel.1	-	0	253	c.71A>G	c.(70-72)gAc>gGc	p.D24G	CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	24	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ACCGTCAGCGTCGAAATGGAG	0.502													C	91094855	T	C	91094855	3	2	203	1	0	0	0	0	1	0	0	0	2573	1667	58	4	758	4	CALB1	8	91094855	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		91094855	55269167	31	13994											
ASAP1	50807	broad.mit.edu	37	8	131140283	131140283	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr8:131140283C>T	uc003yta.2	-	15	1499	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	ASAP1_uc003ysz.2_Missense_Mutation_p.R235H|ASAP1_uc011liw.2_Missense_Mutation_p.R417H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	424					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTGCTCTCCACGGAAGGCCAT	0.458													T	131140283	C	T	131140283	3	4	203	1	0	0	0	0	1	0	0	0	1010	536	19	1	2178	1	ASAP1	8	131140283	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	40045428	131140283	15223739	32	13995											
ANKS6	203286	broad.mit.edu	37	9	101530471	101530471	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:101530471T>A	uc004ayu.3	-	10	2055	c.2034A>T	c.(2032-2034)ttA>ttT	p.L678F	ANKS6_uc004ayv.2_Missense_Mutation_p.L140F|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.L377F	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	678	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCTGCTCCAATAATCCGGCTG	0.582													A	101530471	T	A	101530471	3	1	203	1	0	0	0	0	1	0	0	0	692	1403	49	5	601	5	ANKS6	9	101530471	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		101530471	39682960	33	13996											
SMC2	10592	broad.mit.edu	37	9	106889054	106889054	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:106889054G>A	uc004bbv.3	+	18	2872	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	SMC2_uc004bbw.3_Missense_Mutation_p.A862T|SMC2_uc011lvl.2_Missense_Mutation_p.A862T|SMC2_uc004bbx.3_Missense_Mutation_p.A862T|SMC2_uc004bby.3_5'Flank	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	862					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGCTGAGGTGGCTAAAAATAA	0.338													A	106889054	G	A	106889054	3	1	203	1	0	0	0	0	1	0	0	0	14783	1203	42	3	2654	3	SMC2	9	106889054	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	5358583	106889054	34324377	34	13997											
COL27A1	85301	broad.mit.edu	37	9	117014903	117014903	+	Missense_Mutation	SNP	G	G	A	rs141446597		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:117014903G>A	uc011lxl.2	+	25	3064	c.3064G>A	c.(3064-3066)Gtg>Atg	p.V1022M	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1022	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCCCCAGGCGTGCCTGGACC	0.607													A	117014903	G	A	117014903	3	1	203	1	0	0	0	0	1	0	0	0	3685	1145	40	1	3166	1	COL27A1	9	117014903	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	10125849	117014903	24198528	35	13998											
PTEN	5728	broad.mit.edu	37	10	89690805	89690805	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr10:89690805G>A	uc001kfb.3	+	3	1244	c.212G>A	c.(211-213)tGt>tAt	p.C71Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	71	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L70fs*7(8)|p.?(6)|p.C71Y(6)|p.R55fs*1(5)|p.C71fs*6(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.L70P(1)|p.L70F(1)|p.C71W(1)|p.R55_L70>S(1)|p.F56fs*2(1)|p.C71fs*28(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTTTAGTTGTGCTGAAAGA	0.303		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89690805	G	A	89690805	3	1	203	1	0	0	0	0	1	0	0	0	12738	1377	48	3	226	3	PTEN	10	89690805	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		89690805	45843942	36	13999											
CPN1	1369	broad.mit.edu	37	10	101835788	101835788	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr10:101835788C>T	uc001kql.2	-	1	560	c.300G>A	c.(298-300)tcG>tcA	p.S100S		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	100	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.S100L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACAGAAACTCCGACAGCTGCA	0.582													T	101835788	C	T	101835788	2	4	203	1	0	0	0	0	0	0	0	1	3809	639	23	2		2	CPN1	10	101835788	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	12144983	101835788	33698959	37	14000											
GTF2H1	2965	broad.mit.edu	37	11	18369172	18369172	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:18369172C>G	uc001moi.2	+	8	1569	c.875C>G	c.(874-876)tCt>tGt	p.S292C	GTF2H1_uc001moh.2_Missense_Mutation_p.S292C|GTF2H1_uc009yhm.2_Missense_Mutation_p.S176C	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	292				S -> P (in Ref. 2; BAB15621).	mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCTTCCAATTCTAAATCCATA	0.363								Nucleotide excision repair (NER)					G	18369172	C	G	18369172	3	3	203	1	0	0	0	0	1	0	0	0	6860	913	32	5	901	5	GTF2H1	11	18369172	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		18369172	116637344	38	14001											
DEPDC7	91614	broad.mit.edu	37	11	33049298	33049299	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:33049298_33049299delTC	uc001mub.3	+	2	623_624	c.531_532delTC	c.(529-534)aatctgfs	p.N177fs	DEPDC7_uc010reh.1_Frame_Shift_Del_p.N177fs|DEPDC7_uc001muc.3_Frame_Shift_Del_p.N168fs	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA.	177					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TGTGggaaaatctgagtttaaa	0.376													-	33049299	TC	-	33049298	7	5	203	1	0	1	0	1	0	0	0	0	4444	1432	50	0	591	0	DEPDC7	11	33049298	Frame_Shift_Del	DEL	TC	TCGA-28-2502-01B-01D-1494-08	14680126	33049298	101957218	39	14002											
NUMA1	4926	broad.mit.edu	37	11	71729878	71729878	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:71729878T>C	uc001orl.1	-	9	905	c.733A>G	c.(733-735)Acc>Gcc	p.T245A	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.T245A|NUMA1_uc001orm.1_Missense_Mutation_p.T245A|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.T245A|NUMA1_uc001oro.1_Missense_Mutation_p.T245A|NUMA1_uc009ysy.2_Missense_Mutation_p.T245A|NUMA1_uc001orp.3_Missense_Mutation_p.T245A|NUMA1_uc001orq.3_Missense_Mutation_p.T245A	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	245					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCTTCTCGGTGAGGAGCTTG	0.577			T	RARA	APL								C	71729878	T	C	71729878	3	2	203	1	0	0	0	0	1	0	0	0	10750	1696	59	4	5686	4	NUMA1	11	71729878	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08	38680580	71729878	63276638	40	14003											
MMP3	4314	broad.mit.edu	37	11	102713433	102713433	+	Missense_Mutation	SNP	G	G	A	rs151123532		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:102713433G>A	uc001phj.1	-	1	385	c.320C>T	c.(319-321)cCg>cTg	p.P107L		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	107					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCTCCACTTCGGGATGCCAGG	0.473													A	102713433	G	A	102713433	3	1	203	1	0	0	0	0	1	0	0	0	9666	1116	39	2	1149	2	MMP3	11	102713433	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	30983555	102713433	32293083	41	14004											
KDM5A	5927	broad.mit.edu	37	12	416884	416884	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr12:416884C>T	uc001qif.1	-	22	4029	c.3666G>A	c.(3664-3666)agG>agA	p.R1222R		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1222					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAGTCTCTAGCCTGGGCCTTC	0.478			T	NUP98	AML								T	416884	C	T	416884	2	4	203	1	0	0	0	0	0	0	0	1	8133	738	26	3		3	KDM5A	12	416884	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08		416884	133435011	42	14005											
RERGL	79785	broad.mit.edu	37	12	18237478	18237478	+	Missense_Mutation	SNP	C	C	T	rs61757396	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr12:18237478C>T	uc001rdq.3	-	4	502	c.308G>A	c.(307-309)cGg>cAg	p.R103Q		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	103	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.R103Q(3)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGTGGCTCCCGGATTCTGTA	0.383													T	18237478	C	T	18237478	3	4	203	1	0	0	0	0	1	0	0	0	13233	652	23	2	317	2	RERGL	12	18237478	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	17820594	18237478	115614417	43	14006											
LMO7	4008	broad.mit.edu	37	13	76301190	76301190	+	Missense_Mutation	SNP	G	G	A	rs140368500	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr13:76301190G>A	uc021rkq.1	+	2	501	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	LMO7_uc010thv.2_Missense_Mutation_p.V108I|LMO7_uc001vjt.1_Missense_Mutation_p.V56I	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	108	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.V108I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAACCTGGCGTCATTAAGAA	0.303													A	76301190	G	A	76301190	3	1	203	1	0	0	0	0	1	0	0	0	8855	1145	40	1	336	1	LMO7	13	76301190	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		76301190	38868688	44	14007											
C14orf39	317761	broad.mit.edu	37	14	60938273	60938273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr14:60938273G>A	uc001xez.4	-	5	618	c.508C>T	c.(508-510)Cga>Tga	p.R170*	C14orf39_uc010apo.3_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	170										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTAATACCTCGAAATTTCATA	0.249													A	60938273	G	A	60938273	4	1	203	1	0	0	0	0	0	1	0	0	1772	1066	37	2	1307	2	C14orf39	14	60938273	Nonsense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		60938273	46411267	45	14008											
RYR3	6263	broad.mit.edu	37	15	33855071	33855071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr15:33855071C>T	uc001zhi.3	+	10	1076	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	RYR3_uc010bar.3_Nonsense_Mutation_p.R336*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	336					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)		CAGTCACAAGCGAGACATAGA	0.398													T	33855071	C	T	33855071	4	4	203	1	0	0	0	0	0	1	0	0	13770	760	27	1	1048	1	RYR3	15	33855071	Nonsense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		33855071	68676321	46	14009											
EXD1	161829	broad.mit.edu	37	15	41488149	41488149	+	Missense_Mutation	SNP	T	T	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr15:41488149T>G	uc010ucv.2	-	7	893	c.621A>C	c.(619-621)gaA>gaC	p.E207D	EXD1_uc001znk.3_Missense_Mutation_p.E149D	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	149					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTCTCTTGTCTTCTAGTATCA	0.378													G	41488149	T	G	41488149	3	3	203	1	0	0	0	0	1	0	0	0	5297	1606	56	5	1117	5	EXD1	15	41488149	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08	7633078	41488149	61043243	47	14010											
CLCN7	1186	broad.mit.edu	37	16	1507256	1507256	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:1507256T>C	uc002clv.2	-	9	932	c.822_splice	c.e9+1	p.K274_splice	CLCN7_uc002clw.2_Splice_Site_p.K250_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	274						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAACTCACCTTGAAATCTCG	0.592													C	1507256	T	C	1507256	3	2	203	1	0	0	0	0	1	0	0	0	3468	1623	56	4	1664	4	CLCN7	16	1507256	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		1507256	88847497	48	14011											
MKL2	57496	broad.mit.edu	37	16	14234551	14234551	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:14234551C>G	uc010uza.2	+	2	243	c.88C>G	c.(88-90)Cat>Gat	p.H30D	MKL2_uc002dcg.3_Missense_Mutation_p.H30D	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGTGGCTCATGAATTCCA	0.488													G	14234551	C	G	14234551	3	3	203	1	0	0	0	0	1	0	0	0	9602	826	29	5	90	5	MKL2	16	14234551	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	12727295	14234551	76120202	49	14012											
SETD1A	9739	broad.mit.edu	37	16	30977133	30977133	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:30977133C>G	uc002ead.1	+	7	2617	c.1931C>G	c.(1930-1932)cCt>cGt	p.P644R		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	644	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCGCCGCCCCCTGAGTACCCC	0.652													G	30977133	C	G	30977133	3	3	203	1	0	0	0	0	1	0	0	0	14130	681	24	5	1957	5	SETD1A	16	30977133	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	16742582	30977133	59377620	50	14013											
NF1	4763	broad.mit.edu	37	17	29496924	29496927	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:29496924_29496927delTGTT	uc002hgg.3	+	4	878_881	c.495_498delTGTT	c.(493-498)actgttfs	p.T165fs	NF1_uc002hge.2_Frame_Shift_Del_p.T165fs|NF1_uc002hgf.2_Frame_Shift_Del_p.T165fs|NF1_uc002hgh.3_Frame_Shift_Del_p.T165fs|NF1_uc010csn.2_Intron	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	165					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.C167fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGAATTAACTGTTTGTTCAGAAG	0.328			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29496927	TGTT	-	29496924	7	5	203	1	0	1	0	1	0	0	0	0	10356	1567	55	0	513	0	NF1	17	29496924	Frame_Shift_Del	DEL	TGTT	TCGA-28-2502-01B-01D-1494-08		29496924	51698286	51	14014											
KRT36	8689	broad.mit.edu	37	17	39644595	39644595	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:39644595C>T	uc002hwt.3	-	2	599	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	200	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGGATCCTACGCAGGCCGTT	0.577													T	39644595	C	T	39644595	3	4	203	1	0	0	0	0	1	0	0	0	8473	536	19	1	824	1	KRT36	17	39644595	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	10147671	39644595	41550615	52	14015											
BCAS3	54828	broad.mit.edu	37	17	58756885	58756885	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:58756885C>T	uc002iyv.4	+	1	176	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	BCAS3_uc010wow.1_Missense_Mutation_p.R19C|BCAS3_uc002iyu.4_Missense_Mutation_p.R23C|BCAS3_uc002iyw.4_Missense_Mutation_p.R19C	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	23						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTTGTGGTTCGCCCCCAGGC	0.403													T	58756885	C	T	58756885	3	4	203	1	0	0	0	0	1	0	0	0	1352	884	31	2	69	2	BCAS3	17	58756885	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	19112290	58756885	22438325	53	14016											
ABCA10	10349	broad.mit.edu	37	17	67212489	67212489	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:67212489C>A	uc010dfa.1	-	7	1420	c.541G>T	c.(541-543)Gga>Tga	p.G181*	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Nonsense_Mutation_p.G73*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	181					transport	integral to membrane	ATP binding|ATPase activity			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)					TATGTCAATCCCCAGGAGAGC	0.368													A	67212489	C	A	67212489	4	1	203	1	0	0	0	0	0	1	0	0	29	632	22	5	4222	5	ABCA10	17	67212489	Nonsense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	8455604	67212489	13982721	54	14017											
KCNJ16	3773	broad.mit.edu	37	17	68128849	68128849	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:68128849G>A	uc002jiq.3	+	2	857	c.717G>A	c.(715-717)cgG>cgA	p.R239R	KCNJ16_uc002jin.3_Silent_p.R207R|KCNJ16_uc002jio.3_Silent_p.R207R|KCNJ16_uc002jip.3_Silent_p.R207R|KCNJ16_uc021uch.1_Silent_p.R207R	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	207					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			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)					GTGATTTTCGGCCAAACCACG	0.468													A	68128849	G	A	68128849	2	1	203	1	0	0	0	0	0	0	0	1	8050	1190	42	3		3	KCNJ16	17	68128849	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	916360	68128849	13066361	55	14018											
ZNF556	80032	broad.mit.edu	37	19	2877814	2877814	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:2877814G>A	uc002lwp.1	+	3	945	c.858G>A	c.(856-858)ccG>ccA	p.P286P	ZNF556_uc002lwq.3_Silent_p.P285P	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GAGGGAGACCGTATGAGTGCA	0.517													A	2877814	G	A	2877814	2	1	203	1	0	0	0	0	0	0	0	1	17984	1132	40	1		1	ZNF556	19	2877814	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08		2877814	56251169	56	14019											
CCDC105	126402	broad.mit.edu	37	19	15132710	15132710	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:15132710G>A	uc002nae.2	+	5	1329	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	410					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCCAACTCCCGGAGGCTGCGC	0.632													A	15132710	G	A	15132710	2	1	203	1	0	0	0	0	0	0	0	1	2740	1103	39	2		2	CCDC105	19	15132710	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	12254896	15132710	43996273	57	14020											
CYP4F22	126410	broad.mit.edu	37	19	15648391	15648391	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:15648391G>A	uc002nbh.4	+	5	634	c.467G>A	c.(466-468)cGt>cAt	p.R156H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	156						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R156L(2)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCCGGCACCGTCGCCTGCTG	0.542													A	15648391	G	A	15648391	3	1	203	1	0	0	0	0	1	0	0	0	4189	1145	40	1	481	1	CYP4F22	19	15648391	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	515681	15648391	43480592	58	14021											
FFAR2	2867	broad.mit.edu	37	19	35940986	35940986	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:35940986C>T	uc002nzg.2	+	1	450	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	FFAR2_uc010eea.3_Silent_p.L124L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	124						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			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)			CCGCCGGCCTCTGTATGGAGT	0.577													T	35940986	C	T	35940986	2	4	203	1	0	0	0	0	0	0	0	1	5828	912	32	3		3	FFAR2	19	35940986	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	20292595	35940986	23187997	59	14022											
MAP4K1	11184	broad.mit.edu	37	19	39098515	39098515	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:39098515G>A	uc002oix.1	-	15	1254	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D	MAP4K1_uc002oiy.1_Silent_p.D382D|MAP4K1_uc010xug.2_Silent_p.D44D	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	382					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTCCACGTCGTCATAGTCAT	0.597													A	39098515	G	A	39098515	2	1	203	1	0	0	0	0	0	0	0	1	9259	1136	40	1		1	MAP4K1	19	39098515	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	3157529	39098515	20030468	60	14023											
DMPK	1760	broad.mit.edu	37	19	46275974	46275974	+	Silent	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:46275974C>T	uc002pdi.1	-	10	1533	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	DMPK_uc021uwb.1_5'Flank|DMPK_uc010xxs.1_Silent_p.L334L|DMPK_uc002pdd.1_Silent_p.L433L|DMPK_uc002pde.1_Silent_p.L428L|DMPK_uc002pdg.1_Silent_p.L418L|DMPK_uc002pdf.1_Silent_p.L423L|DMPK_uc002pdh.1_Silent_p.L418L|DMPK_uc010xxt.1_Silent_p.L418L	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	433					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTCGGCCTCCAGTTCCATGG	0.627													T	46275974	C	T	46275974	2	4	203	1	0	0	0	0	0	0	0	1	4584	581	21	3		3	DMPK	19	46275974	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	7177459	46275974	12853009	61	14024											
ZNF831	128611	broad.mit.edu	37	20	57766702	57766702	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr20:57766702G>A	uc002yan.3	+	0	628	c.628G>A	c.(628-630)Ggg>Agg	p.G210R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	210						intracellular	nucleic acid binding|zinc ion binding	p.A209V(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)					CGAGGGCGCCGGGGGCGGCCT	0.677													A	57766702	G	A	57766702	3	1	203	1	0	0	0	0	1	0	0	0	18182	1116	39	2	630	2	ZNF831	20	57766702	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		57766702	5258818	62	14025											
IFNGR2	3460	broad.mit.edu	37	21	34799266	34799266	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr21:34799266T>C	uc002yrp.4	+	3	1136	c.488T>C	c.(487-489)tTt>tCt	p.F163S		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	163	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TCCTCTCCCTTTGACATCGCT	0.443													C	34799266	T	C	34799266	3	2	203	1	0	0	0	0	1	0	0	0	7550	1841	64	4	502	4	IFNGR2	21	34799266	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		34799266	13330629	63	14026											
MYH9	4627	broad.mit.edu	37	22	36696181	36696181	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:36696181G>A	uc003apg.3	-	22	3199	c.2968C>T	c.(2968-2970)Ctg>Ttg	p.L990L	MYH9_uc003aph.1_Silent_p.L854L	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	990					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCTTGGCCAGCTTGCAGTTC	0.662			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				A	36696181	G	A	36696181	2	1	203	1	0	0	0	0	0	0	0	1	10042	962	34	3		3	MYH9	22	36696181	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08		36696181	14608385	64	14027											
TMEM184B	25829	broad.mit.edu	37	22	38617546	38617546	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:38617546C>T	uc003avf.1	-	8	1378	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	TMEM184B_uc003avh.2_Missense_Mutation_p.R319H|TMEM184B_uc003avg.2_Missense_Mutation_p.R385H|TMEM184B_uc021wpo.1_Non-coding_Transcript	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	385						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GCTGTGGGAGCGGGAGAGGCC	0.652													T	38617546	C	T	38617546	3	4	203	1	0	0	0	0	1	0	0	0	16102	768	27	1	73	1	TMEM184B	22	38617546	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	1921365	38617546	12687020	65	14028											
MEI1	150365	broad.mit.edu	37	22	42191460	42191460	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:42191460G>C	uc003baz.1	+	28	3605	c.3580G>C	c.(3580-3582)Ggt>Cgt	p.G1194R	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.G580R|MEI1_uc003bbc.1_Missense_Mutation_p.G562R|MEI1_uc010gym.1_Missense_Mutation_p.G527R|MEI1_uc003bbd.1_Intron|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc003bbg.2_Intron	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	1194							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAAGAGGTGGGTGATGTTCT	0.557													C	42191460	G	C	42191460	3	2	203	1	0	0	0	0	1	0	0	0	9465	1232	43	5	3694	5	MEI1	22	42191460	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	3573914	42191460	9113106	66	14029											
PANX2	56666	broad.mit.edu	37	22	50617532	50617532	+	Silent	SNP	C	C	T	rs145485598		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:50617532C>T	uc003bjn.4	+	2	1860	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	PANX2_uc003bjp.4_Silent_p.N486N|PANX2_uc003bjo.4_Silent_p.N620N	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	620					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGAGCCGAAACGCCACACACC	0.716													T	50617532	C	T	50617532	2	4	203	1	0	0	0	0	0	0	0	1	11421	535	19	1		1	PANX2	22	50617532	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	8426072	50617532	687034	67	14030											
FAM47B	170062	broad.mit.edu	37	X	34962109	34962109	+	Silent	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chrX:34962109G>A	uc004ddi.2	+	0	1197	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	387										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATCCTGTCCGCGGCCTTTTG	0.567													A	34962109	G	A	34962109	2	1	203	1	0	0	0	0	0	0	0	1	5570	1074	38	1		1	FAM47B	23	34962109	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08		34962109	120308451	68	14031											
FAM45A	55855	broad.mit.edu	37	X	129629950	129629950	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chrX:129629950G>A	uc010nrh.3	+	0	1036	c.818G>A	c.(817-819)gGc>gAc	p.G273D	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	273								p.G273D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ATGGCAATGGGCAAACTGCAC	0.448													A	129629950	G	A	129629950	3	1	203	1	0	0	0	0	1	0	0	0	5564	1218	42	3		3	FAM45A	23	129629950	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	94667841	129629950	25640610	69	14032											
DARC	2532	broad.mit.edu	37	1	159175495	159175495	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr1:159175495G>A	uc001ftp.4	+	0	447	c.272G>A	c.(271-273)cGc>cAc	p.R91H	DARC_uc001fto.3_Missense_Mutation_p.R89H	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	89					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCTCTCTTCCGCTGGCAGCTC	0.602													A	159175495	G	A	159175495	3	1	204	1	0	0	0	0	1	0	0	0	4240	1087	38	1	299	1	DARC	1	159175495	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		159175495	90075126	1	14033											
OBSCN	84033	broad.mit.edu	37	1	228529316	228529316	+	Splice_Site	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr1:228529316G>A	uc009xez.1	+	74	18078	c.18034_splice	c.e74+1	p.R6012_splice	OBSCN_uc001hsn.3_Splice_Site_p.R6012_splice|OBSCN_uc001hsr.1_Splice_Site_p.R641_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6012					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGTGTGGCGTGAGTGTCCA	0.667													A	228529316	G	A	228529316	5	1	204	1	0	0	0	0	0	0	1	0	10812	1159	40	1	18325	1	OBSCN	1	228529316	Splice_Site	SNP	G	TCGA-28-2509-01A-01D-1494-08	69353821	228529316	20721305	2	14034											
GALNT3	2591	broad.mit.edu	37	2	166611230	166611230	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:166611230G>A	uc010fph.1	-	8	1920	c.1533C>T	c.(1531-1533)agC>agT	p.S511S		NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	511	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCTGACCAACGCTTTTAATCT	0.303													A	166611230	G	A	166611230	2	1	204	1	0	0	0	0	0	0	0	1	6214	1078	38	1		1	GALNT3	2	166611230	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		166611230	76588143	3	14035											
SESTD1	91404	broad.mit.edu	37	2	180014058	180014058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:180014058C>A	uc002uni.4	-	6	697	c.547G>T	c.(547-549)Gga>Tga	p.G183*		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	183					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTATCACTTCCATTGTTAATC	0.308													A	180014058	C	A	180014058	4	1	204	1	0	0	0	0	0	1	0	0	14127	603	21	5	1591	5	SESTD1	2	180014058	Nonsense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	13402828	180014058	63185315	4	14036											
SP100	6672	broad.mit.edu	37	2	231328786	231328786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:231328786delC	uc002vqt.3	+	10	1203	c.1062delC	c.(1060-1062)atcfs	p.I354fs	SP100_uc002vqs.3_Frame_Shift_Del_p.I354fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I354fs|SP100_uc002vqq.2_Frame_Shift_Del_p.I354fs|SP100_uc010zmc.2_Frame_Shift_Del_p.I329fs|SP100_uc002vqv.2_Frame_Shift_Del_p.I319fs	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	354					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GTGCAGTGATCAATAATGACA	0.408													-	231328786	C	-	231328786	7	5	204	1	0	1	0	1	0	0	0	0	14960	816	29	0	1104	0	SP100	2	231328786	Frame_Shift_Del	DEL	C	TCGA-28-2509-01A-01D-1494-08	51314728	231328786	11870587	5	14037											
TRAT1	50852	broad.mit.edu	37	3	108572602	108572602	+	Missense_Mutation	SNP	G	G	A	rs142175794	byFrequency	TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:108572602G>A	uc003dxi.1	+	5	583	c.439G>A	c.(439-441)Gtt>Att	p.V147I	TRAT1_uc010hpx.1_Missense_Mutation_p.V110I	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	147					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGATGCCAGCGTTTCTAAGAC	0.458													A	108572602	G	A	108572602	3	1	204	1	0	0	0	0	1	0	0	0	16463	1145	40	1	461	1	TRAT1	3	108572602	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		108572602	89449828	6	14038											
PARP9	83666	broad.mit.edu	37	3	122274913	122274913	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:122274913G>C	uc010hri.3	-	3	355	c.210C>G	c.(208-210)gaC>gaG	p.D70E	PARP9_uc003eff.4_Missense_Mutation_p.D35E|PARP9_uc011bjs.2_Missense_Mutation_p.D35E|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.D35E|PARP9_uc003efh.3_Missense_Mutation_p.D70E|PARP9_uc003efj.2_Missense_Mutation_p.D35E	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	70					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAATTTTGAAGTCATTGTGGT	0.353													C	122274913	G	C	122274913	3	2	204	1	0	0	0	0	1	0	0	0	11466	1020	36	5	2439	5	PARP9	3	122274913	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	13702311	122274913	75747517	7	14039											
DBR1	51163	broad.mit.edu	37	3	137880744	137880746	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:137880744_137880746delTCA	uc003erv.3	-	7	1774_1776	c.1620_1622delTGA	c.(1618-1623)gatgac>gac	p.540_541DD>D	DBR1_uc003eru.3_In_Frame_Del_p.489_490DD>D|DBR1_uc003ert.3_In_Frame_Del_p.308_309DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	540						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTGCATCGTCATCATCATCAT	0.399													-	137880746	TCA	-	137880744	7	5	204	1	0	1	0	1	0	0	0	0	4257	1667	58	0	16	0	DBR1	3	137880744	In_Frame_Del	DEL	TCA	TCGA-28-2509-01A-01D-1494-08	15605831	137880744	60141686	8	14040											
KIT	3815	broad.mit.edu	37	4	55564507	55564507	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:55564507C>T	uc010igr.3	+	2	482	c.395C>T	c.(394-396)aCg>aTg	p.T132M	KIT_uc010igs.3_Missense_Mutation_p.T132M	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	132	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.D131N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACAACGACACGCTGGTCCGC	0.498		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				T	55564507	C	T	55564507	3	4	204	1	0	0	0	0	1	0	0	0	8329	536	19	1	405	1	KIT	4	55564507	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		55564507	135589769	9	14041											
SULT1B1	27284	broad.mit.edu	37	4	70592883	70592883	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:70592883C>T	uc003hen.3	-	7	1112	c.814G>A	c.(814-816)Gcc>Acc	p.A272T		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	272					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCATTTTGGGCCACGGTGAAG	0.343													T	70592883	C	T	70592883	3	4	204	1	0	0	0	0	1	0	0	0	15373	739	26	3	80	3	SULT1B1	4	70592883	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	15028376	70592883	120561393	10	14042											
FRAS1	80144	broad.mit.edu	37	4	79447726	79447726	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:79447726C>G	uc003hlb.2	+	69	11280	c.10840C>G	c.(10840-10842)Ctg>Gtg	p.L3614V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3609					cell communication	integral to membrane|plasma membrane	metal ion binding			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						CACCATCTACCTGATCCCTTG	0.517													G	79447726	C	G	79447726	3	3	204	1	0	0	0	0	1	0	0	0	6042	680	24	5	11193	5	FRAS1	4	79447726	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	8854843	79447726	111706550	11	14043											
FAT1	2195	broad.mit.edu	37	4	187522529	187522529	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:187522529G>A	uc003izf.3	-	20	11722	c.11534C>T	c.(11533-11535)aCg>aTg	p.T3845M		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3845	Laminin G-like.				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.T3845M(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						TTCATTTTCCGTCAGACGGTA	0.413										HNSCC(5;0.00058)			A	187522529	G	A	187522529	3	1	204	1	0	0	0	0	1	0	0	0	5689	1145	40	1	2260	1	FAT1	4	187522529	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	108074803	187522529	3631747	12	14044											
PCDHB7	56129	broad.mit.edu	37	5	140553530	140553530	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:140553530G>C	uc003lit.3	+	0	1288	c.1114G>C	c.(1114-1116)Gac>Cac	p.D372H		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	372	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGGATTAGAGACAGAGATTC	0.468													C	140553530	G	C	140553530	3	2	204	1	0	0	0	0	1	0	0	0	11547	942	33	5	1116	5	PCDHB7	5	140553530	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		140553530	40361730	13	14045											
GM2A	2760	broad.mit.edu	37	5	150639411	150639411	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:150639411C>T	uc003ltr.4	+	1	342	c.177C>T	c.(175-177)atC>atT	p.I59I	GM2A_uc011dcr.2_Silent_p.I59I|GM2A_uc003ltt.1_5'UTR	NM_000405	NP_000396	P17900	SAP3_HUMAN	Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.	59			I -> V (in dbSNP:rs153477).			lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCATCATCGTTCCTGGAA	0.587													T	150639411	C	T	150639411	2	4	204	1	0	0	0	0	0	0	0	1	6484	874	31	2		2	GM2A	5	150639411	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	10085881	150639411	30275849	14	14046											
FAT2	2196	broad.mit.edu	37	5	150922530	150922530	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:150922530C>G	uc003lue.4	-	8	8171	c.8158G>C	c.(8158-8160)Gat>Cat	p.D2720H		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2720	Cadherin 24.				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)			ATGACTGGATCTTGAGCTGCC	0.478													G	150922530	C	G	150922530	3	3	204	1	0	0	0	0	1	0	0	0	5690	913	32	5	4951	5	FAT2	5	150922530	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	283119	150922530	29992730	15	14047											
SLIT3	6586	broad.mit.edu	37	5	168233574	168233574	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:168233574G>T	uc010jjg.3	-	8	1232	c.812C>A	c.(811-813)cCa>cAa	p.P271Q	SLIT3_uc003mab.3_Missense_Mutation_p.P271Q|SLIT3_uc010jji.2_Missense_Mutation_p.P271Q|SLIT3_uc003mac.1_Missense_Mutation_p.P68Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	271	LRRNT 2.				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			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)			ATTGCAGGATGGGGGCTCCGA	0.567													T	168233574	G	T	168233574	3	4	204	1	0	0	0	0	1	0	0	0	14741	1348	47	5	3871	5	SLIT3	5	168233574	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	17311044	168233574	12681686	16	14048											
FOXI1	2299	broad.mit.edu	37	5	169535115	169535115	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:169535115C>T	uc003mai.4	+	1	682	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	213					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAATTTCCGCAGGAAAAG	0.488									Pendred syndrome				T	169535115	C	T	169535115	3	4	204	1	0	0	0	0	1	0	0	0	6009	652	23	2	643	2	FOXI1	5	169535115	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	1301541	169535115	11380145	17	14049											
ARID1B	57492	broad.mit.edu	37	6	157495209	157495209	+	Silent	SNP	C	C	T	rs147853607		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr6:157495209C>T	uc003qqp.3	+	9	3054	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	ARID1B_uc003qqo.3_Silent_p.D1031D|ARID1B_uc003qqn.3_Silent_p.D1018D	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1018					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCAAAGCAGACGGCAAAGAAG	0.507													T	157495209	C	T	157495209	2	4	204	1	0	0	0	0	0	0	0	1	914	535	19	1		1	ARID1B	6	157495209	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08		157495209	13619858	18	14050											
GCC1	79571	broad.mit.edu	37	7	127222986	127222986	+	Silent	SNP	A	A	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:127222986A>G	uc003vma.3	-	1	1828	c.1410T>C	c.(1408-1410)gcT>gcC	p.A470A		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	470						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCCATCAGCAGCCTCCGAGC	0.542													G	127222986	A	G	127222986	2	3	204	1	0	0	0	0	0	0	0	1	6285	175	7	4		4	GCC1	7	127222986	Silent	SNP	A	TCGA-28-2509-01A-01D-1494-08		127222986	31915677	19	14051											
OR2A25	392138	broad.mit.edu	37	7	143771552	143771552	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:143771552G>A	uc011ktx.2	+	0	240	c.240G>A	c.(238-240)atG>atA	p.M80I		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M80I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGCCCCAGATGCTGGTGAACC	0.547													A	143771552	G	A	143771552	3	1	204	1	0	0	0	0	1	0	0	0	10978	1319	46	3	242	3	OR2A25	7	143771552	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	16548566	143771552	15367111	20	14052											
ABCB8	11194	broad.mit.edu	37	7	150737710	150737710	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:150737710C>G	uc003wil.4	+	11	1521	c.1428C>G	c.(1426-1428)aaC>aaG	p.N476K	ABCB8_uc010lpw.1_Missense_Mutation_p.N348K|ABCB8_uc010lpx.3_Missense_Mutation_p.N459K|ABCB8_uc011kvd.2_Missense_Mutation_p.N371K|ABCB8_uc003wim.4_Missense_Mutation_p.N254K|ABCB8_uc003wik.4_Missense_Mutation_p.N459K	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	476	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			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)		CATTTCAGAACGTCTGCTTCA	0.632													G	150737710	C	G	150737710	3	3	204	1	0	0	0	0	1	0	0	0	47	535	19	5	1419	5	ABCB8	7	150737710	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	6966158	150737710	8400953	21	14053											
SGK223	157285	broad.mit.edu	37	8	8235473	8235473	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:8235473G>T	uc003wsh.4	-	1	446	c.446C>A	c.(445-447)cCt>cAt	p.P149H		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	149							ATP binding|non-membrane spanning protein tyrosine kinase activity										ATTGCCATCAGGGGAGGTAGA	0.642													T	8235473	G	T	8235473	3	4	204	1	0	0	0	0	1	0	0	0	14210	1000	35	5	3778	5	SGK223	8	8235473	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		8235473	138128549	22	14054											
PRKDC	5591	broad.mit.edu	37	8	48869810	48869810	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:48869810C>T	uc003xqi.3	-	2	302	c.245G>A	c.(244-246)aGa>aAa	p.R82K	PRKDC_uc003xqj.3_Missense_Mutation_p.R82K|MCM4_uc003xqk.2_5'Flank|MCM4_uc003xql.2_5'Flank|MCM4_uc011ldi.2_5'Flank|MCM4_uc010lxw.2_5'Flank	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	82					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GATTTCTTCTCTACATTCACG	0.318								Non-homologous end-joining					T	48869810	C	T	48869810	3	4	204	1	0	0	0	0	1	0	0	0	12521	913	32	3	12476	3	PRKDC	8	48869810	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	40634337	48869810	97494212	23	14055											
TSNARE1	203062	broad.mit.edu	37	8	143425640	143425640	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:143425640G>A	uc003ywj.3	-	2	471	c.432C>T	c.(430-432)caC>caT	p.H144H	TSNARE1_uc011lju.2_Silent_p.H144H|TSNARE1_uc003ywk.3_Silent_p.H144H|TSNARE1_uc003ywl.4_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	144					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGCAGCTGGTGGTGCTTGC	0.667													A	143425640	G	A	143425640	2	1	204	1	0	0	0	0	0	0	0	1	16627	1252	44	3		3	TSNARE1	8	143425640	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	94555830	143425640	2938382	24	14056											
ZNF658	26149	broad.mit.edu	37	9	40772759	40772759	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr9:40772759G>A	uc004abs.2	-	4	2668	c.2516C>T	c.(2515-2517)aCa>aTa	p.T839I	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.T839I	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAGAGGTGTGTTCTTTGGGA	0.428													A	40772759	G	A	40772759	3	1	204	1	0	0	0	0	1	0	0	0	18066	1377	48	3	667	3	ZNF658	9	40772759	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		40772759	100440672	25	14057											
AGAP6	414189	broad.mit.edu	37	10	51748567	51748567	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:51748567C>T	uc001jix.4	+	0	490	c.92C>T	c.(91-93)aCc>aTc	p.T31I		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	31					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GAATCTGAGACCTATGAGGCA	0.597													T	51748567	C	T	51748567	3	4	204	1	0	0	0	0	1	0	0	0	372	507	18	3	94	3	AGAP6	10	51748567	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		51748567	83786180	26	14058											
VENTX	27287	broad.mit.edu	37	10	135053299	135053299	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:135053299C>T	uc010quy.1	+	1	372	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	121					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCCTCTGGAGCGGAAGAGGCT	0.687													T	135053299	C	T	135053299	3	4	204	1	0	0	0	0	1	0	0	0	17150	759	27	1	367	1	VENTX	10	135053299	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	83304732	135053299	481448	27	14059											
OR4C3	256144	broad.mit.edu	37	11	48346680	48346680	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:48346680C>T	uc010rhv.2	+	0	188	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TATGTGGTCACGGTTTGTGGC	0.463													T	48346680	C	T	48346680	3	4	204	1	0	0	0	0	1	0	0	0	11050	536	19	1	190	1	OR4C3	11	48346680	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		48346680	86659836	28	14060											
OR4A47	403253	broad.mit.edu	37	11	48510660	48510660	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:48510660G>A	uc010rhx.2	+	0	316	c.316G>A	c.(316-318)Ggt>Agt	p.G106S		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GCACATTTTCGGTGGGTCAGA	0.453													A	48510660	G	A	48510660	3	1	204	1	0	0	0	0	1	0	0	0	11042	1116	39	2	318	2	OR4A47	11	48510660	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	163980	48510660	86495856	29	14061											
OR5W2	390148	broad.mit.edu	37	11	55681751	55681751	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:55681751A>G	uc010rir.2	-	0	308	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V103V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATACAGAAGACCAAGAATTG	0.468													G	55681751	A	G	55681751	3	3	204	1	0	0	0	0	1	0	0	0	11185	275	10	4	626	4	OR5W2	11	55681751	Missense_Mutation	SNP	A	TCGA-28-2509-01A-01D-1494-08	7171091	55681751	79324765	30	14062											
GANAB	23193	broad.mit.edu	37	11	62400735	62400735	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:62400735C>T	uc001nua.3	-	7	738	c.705G>A	c.(703-705)gaG>gaA	p.E235E	GANAB_uc001nub.3_Silent_p.E213E|GANAB_uc001nuc.3_Silent_p.E116E|GANAB_uc010rma.2_Silent_p.E121E|GANAB_uc010rmb.2_Silent_p.E99E	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	213					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCCCCTGAGTCTCCTCTGGCT	0.527													T	62400735	C	T	62400735	2	4	204	1	0	0	0	0	0	0	0	1	6233	912	32	3		3	GANAB	11	62400735	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	6718984	62400735	72605781	31	14063											
USP28	57646	broad.mit.edu	37	11	113672259	113672259	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:113672259C>T	uc001poh.3	-	23	3037	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	USP28_uc001pog.3_Missense_Mutation_p.A678T|USP28_uc010rwy.2_Missense_Mutation_p.A845T|USP28_uc001poi.3_Missense_Mutation_p.A325T	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	1002					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCTCAATGGCATCCAGATCA	0.393													T	113672259	C	T	113672259	3	4	204	1	0	0	0	0	1	0	0	0	17055	710	25	3	237	3	USP28	11	113672259	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	51271524	113672259	21334257	32	14064											
DDX25	29118	broad.mit.edu	37	11	125788549	125788549	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:125788549C>T	uc001qcz.4	+	9	1206	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	DDX25_uc010sbk.2_Silent_p.T355T	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	355	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AGTGGTTGACCGTGGAGATGA	0.512													T	125788549	C	T	125788549	2	4	204	1	0	0	0	0	0	0	0	1	4352	639	23	2		2	DDX25	11	125788549	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	12116290	125788549	9217967	33	14065											
LRRK2	120892	broad.mit.edu	37	12	40618993	40618996	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:40618993_40618996delAGTC	uc001rmg.4	+	0	181_184	c.60_63delAGTC	c.(58-63)atagtcfs	p.I20fs		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	20					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAAGTTGATAGTCAGGCTGAACA	0.544													-	40618996	AGTC	-	40618993	7	5	204	1	0	1	0	1	0	0	0	0	9033	410	15	0	62	0	LRRK2	12	40618993	Frame_Shift_Del	DEL	AGTC	TCGA-28-2509-01A-01D-1494-08		40618993	93232902	34	14066											
PTPRB	5787	broad.mit.edu	37	12	70928634	70928634	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:70928634G>A	uc001swb.4	-	27	5559	c.5529C>T	c.(5527-5529)atC>atT	p.I1843I	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.I1753I|PTPRB_uc010stp.2_Silent_p.I1753I|PTPRB_uc001swc.4_Silent_p.I2061I|PTPRB_uc001swa.4_Silent_p.I1973I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1843	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAAACTCCCGGATGGTCCACT	0.512													A	70928634	G	A	70928634	2	1	204	1	0	0	0	0	0	0	0	1	12796	1164	41	3		3	PTPRB	12	70928634	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	30309641	70928634	62923261	35	14067											
UHRF1BP1L	23074	broad.mit.edu	37	12	100451481	100451482	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:100451481_100451482delAG	uc001tgq.3	-	14	3520_3521	c.3291_3292delCT	c.(3289-3294)ctctgtfs	p.L1097fs	UHRF1BP1L_uc001tgp.3_Frame_Shift_Del_p.L747fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1097										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAAGAAACACAGAGAGGAGCCA	0.332													-	100451482	AG	-	100451481	7	5	204	1	0	1	0	1	0	0	0	0	16966	188	7	0	1130	0	UHRF1BP1L	12	100451481	Frame_Shift_Del	DEL	AG	TCGA-28-2509-01A-01D-1494-08	29522847	100451481	33400414	36	14068											
SLC24A6	80024	broad.mit.edu	37	12	113737741	113737741	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:113737741G>A	uc001tvc.3	-	15	1806	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	SLC24A6_uc001tuz.3_Silent_p.G237G|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.G270G	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	532					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						GCCCCAGGGCGCCTGCCAGGA	0.627													A	113737741	G	A	113737741	2	1	204	1	0	0	0	0	0	0	0	1	14470	1074	38	1		1	SLC24A6	12	113737741	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	13286260	113737741	20114154	37	14069											
KSR2	283455	broad.mit.edu	37	12	118105354	118105354	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:118105354G>A	uc001two.2	-	4	1064	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	366					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R398C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAAGGAGCGGAGGGAGCGC	0.602													A	118105354	G	A	118105354	3	1	204	1	0	0	0	0	1	0	0	0	8582	1116	39	2	1820	2	KSR2	12	118105354	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	4367613	118105354	15746541	38	14070											
GCN1L1	10985	broad.mit.edu	37	12	120628101	120628101	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:120628101C>T	uc001txo.3	-	2	134	c.121_splice	c.e2+1	p.D41_splice		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	41					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAATAAATACCTTTTCCAGCA	0.393													T	120628101	C	T	120628101	3	4	204	1	0	0	0	0	1	0	0	0	6299	695	24	3	8122	3	GCN1L1	12	120628101	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	2522747	120628101	13223794	39	14071											
NEK3	4752	broad.mit.edu	37	13	52728302	52728302	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr13:52728302A>G	uc001vgh.3	-	1	1418	c.187T>C	c.(187-189)Tct>Cct	p.S63P	NEK3_uc001vgi.3_Missense_Mutation_p.S42P|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Missense_Mutation_p.S42P	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.	42	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTGTATTAGAGAAAGACTAG	0.284													G	52728302	A	G	52728302	3	3	204	1	0	0	0	0	1	0	0	0	10325	304	11	4	1452	4	NEK3	13	52728302	Missense_Mutation	SNP	A	TCGA-28-2509-01A-01D-1494-08		52728302	62441576	40	14072											
RIN3	79890	broad.mit.edu	37	14	93022210	93022210	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr14:93022210G>A	uc001yap.3	+	1	311	c.159G>A	c.(157-159)ctG>ctA	p.L53L	RIN3_uc010auk.3_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	53					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCAGCATCCTGGAGAAGCTCA	0.612													A	93022210	G	A	93022210	2	1	204	1	0	0	0	0	0	0	0	1	13373	1335	47	3		3	RIN3	14	93022210	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		93022210	14327330	41	14073											
TJP1	7082	broad.mit.edu	37	15	30053400	30053400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:30053400G>A	uc001zcr.3	-	7	1427	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	TJP1_uc010azl.3_Nonsense_Mutation_p.Q306*|TJP1_uc001zcq.3_Nonsense_Mutation_p.Q322*|TJP1_uc001zcs.3_Nonsense_Mutation_p.Q318*	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	318					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTGACCGCTGGTCAGGAGAT	0.488													A	30053400	G	A	30053400	4	1	204	1	0	0	0	0	0	1	0	0	15926	1357	47	3	4378	3	TJP1	15	30053400	Nonsense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		30053400	72477992	42	14074											
MAPKBP1	23005	broad.mit.edu	37	15	42067489	42067489	+	Missense_Mutation	SNP	T	T	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:42067489T>G	uc001zok.4	+	1	302	c.16T>G	c.(16-18)Tca>Gca	p.S6A	MAPKBP1_uc010bci.3_Missense_Mutation_p.S6A|MAPKBP1_uc010udb.2_5'UTR|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S6A|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	6										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGTGGAAGGGTCAACCATTAC	0.557													G	42067489	T	G	42067489	3	3	204	1	0	0	0	0	1	0	0	0	9292	1667	58	5	18	5	MAPKBP1	15	42067489	Missense_Mutation	SNP	T	TCGA-28-2509-01A-01D-1494-08	12014089	42067489	60463903	43	14075											
SEMA7A	8482	broad.mit.edu	37	15	74708161	74708161	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:74708161C>T	uc002axv.3	-	7	1007	c.967G>A	c.(967-969)Ggt>Agt	p.G323S	SEMA7A_uc010ulk.2_Missense_Mutation_p.G158S|SEMA7A_uc010ull.2_Missense_Mutation_p.G309S	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	323	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GAGAAAACACCATAGACCCTG	0.612													T	74708161	C	T	74708161	3	4	204	1	0	0	0	0	1	0	0	0	14043	594	21	3	1061	3	SEMA7A	15	74708161	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	32640672	74708161	27823231	44	14076											
FBXO22	26263	broad.mit.edu	37	15	76196838	76196838	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:76196838C>T	uc002bbk.3	+	1	252	c.147C>T	c.(145-147)tgC>tgT	p.C49C	FBXO22_uc002bbj.2_Silent_p.C49C|FBXO22_uc002bbl.3_Intron	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	49	F-box.				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCAGCGTGTGCCGCTTATGGA	0.622													T	76196838	C	T	76196838	2	4	204	1	0	0	0	0	0	0	0	1	5734	747	26	3		3	FBXO22	15	76196838	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	1488677	76196838	26334554	45	14077											
ZNF174	7727	broad.mit.edu	37	16	3458790	3458790	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:3458790G>A	uc002cvc.3	+	2	1910	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R		NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	365					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GCTTTGGGCGGCAGTCAACCC	0.542													A	3458790	G	A	3458790	2	1	204	1	0	0	0	0	0	0	0	1	17741	1190	42	3		3	ZNF174	16	3458790	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		3458790	86895963	46	14078											
DNAH3	55567	broad.mit.edu	37	16	21080833	21080833	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:21080833G>A	uc010vbe.2	-	22	3284	c.3284C>T	c.(3283-3285)cCa>cTa	p.P1095L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1095	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTGAAGATTGGTTCCAGGTA	0.438													A	21080833	G	A	21080833	3	1	204	1	0	0	0	0	1	0	0	0	4603	1348	47	3	9225	3	DNAH3	16	21080833	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	17622043	21080833	69273920	47	14079											
SRCAP	10847	broad.mit.edu	37	16	30734359	30734359	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:30734359C>G	uc002dze.1	+	23	4353	c.3968C>G	c.(3967-3969)cCt>cGt	p.P1323R	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1118R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1323	Pro-rich.				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			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)			GGACTGACTCCTGTTCCTCCA	0.587													G	30734359	C	G	30734359	3	3	204	1	0	0	0	0	1	0	0	0	15134	681	24	5	4054	5	SRCAP	16	30734359	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	9653526	30734359	59620394	48	14080											
SRCAP	10847	broad.mit.edu	37	16	30749342	30749342	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:30749342delG	uc002dze.1	+	33	8366	c.7981delG	c.(7981-7983)gatfs	p.D2661fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.D2456fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2661	Pro-rich.				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			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)			AGCAGCATCTGATGAGCCACT	0.602													-	30749342	G	-	30749342	7	5	204	1	0	1	0	1	0	0	0	0	15134	1290	45	0	8107	0	SRCAP	16	30749342	Frame_Shift_Del	DEL	G	TCGA-28-2509-01A-01D-1494-08	14983	30749342	59605411	49	14081											
RLTPR	146206	broad.mit.edu	37	16	67683468	67683468	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:67683468G>A	uc002etn.3	+	19	1985	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E	RLTPR_uc010cel.1_Missense_Mutation_p.G615E|RLTPR_uc010vjr.2_Missense_Mutation_p.G586E	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	622	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACGCCATGGGGGACGCGGGC	0.701													A	67683468	G	A	67683468	3	1	204	1	0	0	0	0	1	0	0	0	13394	1232	43	3	1943	3	RLTPR	16	67683468	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	36934126	67683468	22671285	50	14082											
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	rs121912655		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr17:7577556C>T	uc002gim.2	-	6	919	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TP53_uc002gig.1_Missense_Mutation_p.C242Y|TP53_uc002gih.3_Missense_Mutation_p.C242Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C110Y|TP53_uc010cnf.1_Missense_Mutation_p.C110Y|TP53_uc002gii.1_Missense_Mutation_p.C110Y|TP53_uc010cni.1_Missense_Mutation_p.C242Y|TP53_uc010cnh.1_Missense_Mutation_p.C242Y|TP53_uc002gij.2_Missense_Mutation_p.C242Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C149Y|TP53_uc002gio.2_Missense_Mutation_p.C110Y|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.C242F(156)|p.C242Y(85)|p.S241F(78)|p.C242S(43)|p.S241C(24)|p.C242fs*5(16)|p.C242R(12)|p.S241A(9)|p.S241fs*6(9)|p.0?(8)|p.S241Y(8)|p.C242W(7)|p.N239_C242delNSSC(6)|p.C149F(6)|p.S241T(6)|p.S241del(5)|p.?(5)|p.C242*(3)|p.S241S(3)|p.S241P(3)|p.C242fs*20(2)|p.C242G(2)|p.Y236_M243delYMCNSSCM(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.C242C(2)|p.C242fs*98(2)|p.C149Y(2)|p.H233_C242del10(2)|p.S241fs*22(2)|p.S241_G245delSCMGG(2)|p.C242fs*23(1)|p.N239fs*4(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N239_C242del(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)		GCCGCCCATGCAGGAACTGTT	0.577		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)			T	7577556	C	T	7577556	3	4	204	1	0	0	0	0	1	0	0	0	16378	710	25	3	565	3	TP53	17	7577556	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		7577556	73617654	51	14083											
MYH8	4626	broad.mit.edu	37	17	10304743	10304743	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr17:10304743G>A	uc002gmm.2	-	23	3052	c.2957C>T	c.(2956-2958)gCa>gTa	p.A986V	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	986					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCCAGGCCTGCCATCTCTTC	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10304743	G	A	10304743	3	1	204	1	0	0	0	0	1	0	0	0	10041	1319	46	3	2924	3	MYH8	17	10304743	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	2727187	10304743	70890467	52	14084											
CNDP1	84735	broad.mit.edu	37	18	72226676	72226676	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr18:72226676G>A	uc002llq.3	+	2	483	c.272G>A	c.(271-273)cGt>cAt	p.R91H	BC047599_uc002llr.3_Non-coding_Transcript	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	91					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGGGGCCCGTGTGGCCTCG	0.632													A	72226676	G	A	72226676	3	1	204	1	0	0	0	0	1	0	0	0	3593	1145	40	1	282	1	CNDP1	18	72226676	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		72226676	5850572	53	14085											
MUC16	94025	broad.mit.edu	37	19	9090864	9090864	+	Silent	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:9090864G>A	uc002mkp.3	-	0	1155	c.951C>T	c.(949-951)gcC>gcT	p.A317A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	317	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						TGCTGGCTCTGGCCTCGGGCA	0.498													A	9090864	G	A	9090864	2	1	204	1	0	0	0	0	0	0	0	1	9973	1335	47	3		3	MUC16	19	9090864	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		9090864	50038119	54	14086											
MAST1	22983	broad.mit.edu	37	19	12979571	12979571	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:12979571G>A	uc002mvm.3	+	20	2809	c.2681G>A	c.(2680-2682)gGg>gAg	p.G894E		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	894					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G894E(3)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGATGTCAGGGGATGTGGCA	0.577													A	12979571	G	A	12979571	3	1	204	1	0	0	0	0	1	0	0	0	9324	1232	43	3	2763	3	MAST1	19	12979571	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	3888707	12979571	46149412	55	14087											
ZNF626	199777	broad.mit.edu	37	19	20808078	20808078	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:20808078T>A	uc002npb.1	-	3	755	c.605A>T	c.(604-606)aAa>aTa	p.K202I	ZNF626_uc002npc.1_Missense_Mutation_p.K126I	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTCTTCACATTTGTAGGGTTT	0.368													A	20808078	T	A	20808078	3	1	204	1	0	0	0	0	1	0	0	0	18047	1841	64	5	985	5	ZNF626	19	20808078	Missense_Mutation	SNP	T	TCGA-28-2509-01A-01D-1494-08	7828507	20808078	38320905	56	14088											
FKRP	79147	broad.mit.edu	37	19	47258817	47258817	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:47258817G>A	uc002pfn.2	+	3	407	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	FKRP_uc002pfp.2_Missense_Mutation_p.R37Q|FKRP_uc021uwj.1_Missense_Mutation_p.R37Q	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	37						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TCCCGGGCCCGGGGGCCCCGT	0.677													A	47258817	G	A	47258817	3	1	204	1	0	0	0	0	1	0	0	0	5917	1116	39	2	112	2	FKRP	19	47258817	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	26450739	47258817	11870166	57	14089											
LILRB3	11025	broad.mit.edu	37	19	54724484	54724484	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:54724484G>A	uc010erh.1	-	5	1296	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	LILRB3_uc002qee.1_Missense_Mutation_p.A391V|LILRB3_uc002qef.1_Missense_Mutation_p.A391V|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.A391V|LILRB3_uc002qeh.1_Missense_Mutation_p.A391V|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.A391V|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.A391V|LILRB3_uc002qep.1_Missense_Mutation_p.A391V|LILRB3_uc002qeq.1_Missense_Mutation_p.A391V|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	391	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			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)		GTAGGTCCCCGCGTGGGCTGA	0.607													A	54724484	G	A	54724484	3	1	204	1	0	0	0	0	1	0	0	0	8792	1087	38	1	758	1	LILRB3	19	54724484	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	7465667	54724484	4404499	58	14090											
LILRB3	79168	broad.mit.edu	37	19	54744236	54744236	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:54744236G>A	uc010erh.1	-						LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.A391V|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.A391V|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc010yep.1_Missense_Mutation_p.A391V|LILRB3_uc010yeq.1_Missense_Mutation_p.A391V|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.A391V|LILRB3_uc002qev.1_Missense_Mutation_p.A252V	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.A391V(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)		GTAGGTCCCCGCGTGGGCTGA	0.592													A	54744236	G	A	54744236	3	1	204	1	0	0	0	0	1	0	0	0	8792	1087	38	1		1	LILRB3	19	54744236	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	19752	54744236	4384747	59	14091											
ERG	2078	broad.mit.edu	37	21	39764312	39764312	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr21:39764312G>A	uc010gnw.3	-	8	1116	c.821C>T	c.(820-822)aCg>aTg	p.T274M	ERG_uc021wjd.1_Missense_Mutation_p.T274M|ERG_uc002yxa.3_Missense_Mutation_p.T267M|ERG_uc011aek.2_Missense_Mutation_p.T175M|ERG_uc010gnv.3_Missense_Mutation_p.T151M|ERG_uc010gnx.3_Missense_Mutation_p.T250M|ERG_uc011ael.2_Missense_Mutation_p.T274M|ERG_uc002yxb.3_Missense_Mutation_p.T250M|ERG_uc011aem.1_Missense_Mutation_p.T148M|ERG_uc010gny.1_Non-coding_Transcript	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	274					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.T274M(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CGACTGGGGCGTGGGGTGGCC	0.448			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								A	39764312	G	A	39764312	3	1	204	1	0	0	0	0	1	0	0	0	5222	1145	40	1	655	1	ERG	21	39764312	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		39764312	8365583	60	14092											
HCCS	3052	broad.mit.edu	37	X	11139917	11139917	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:11139917G>A	uc004cul.2	+	6	974	c.794G>A	c.(793-795)cGt>cAt	p.R265H	HCCS_uc004cuk.3_Missense_Mutation_p.R265H|HCCS_uc004cuj.3_Missense_Mutation_p.R265H	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	265					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						GCTTGGTGGCGTTGGACCTCG	0.428													A	11139917	G	A	11139917	3	1	204	1	0	0	0	0	1	0	0	0	6990	1145	40	1	816	1	HCCS	23	11139917	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		11139917	144130643	61	14093											
MAGEB6	158809	broad.mit.edu	37	X	26212632	26212632	+	Silent	SNP	G	G	A	rs141448892		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:26212632G>A	uc022buc.1	+	0	669	c.669G>A	c.(667-669)aaG>aaA	p.K223K	MAGEB6_uc004dbr.3_Silent_p.K223K	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	223	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ACATGCTGAAGTGTGTCCGCA	0.463													A	26212632	G	A	26212632	2	1	204	1	0	0	0	0	0	0	0	1	9179	1020	36	3		3	MAGEB6	23	26212632	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	15072715	26212632	129057928	62	14094											
CXorf22	170063	broad.mit.edu	37	X	35985763	35985763	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:35985763C>T	uc004ddj.3	+	9	1694	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	543								p.P542P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CGTAATCCCACGGGAAAGTTT	0.353													T	35985763	C	T	35985763	3	4	204	1	0	0	0	0	1	0	0	0	4102	536	19	1	1666	1	CXorf22	23	35985763	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	9773131	35985763	119284797	63	14095											
ZNF157	7712	broad.mit.edu	37	X	47272290	47272290	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:47272290C>T	uc004dhr.1	+	3	887	c.818C>T	c.(817-819)cCc>cTc	p.P273L		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	273					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGGGAGAAACCCTATGAATGT	0.448													T	47272290	C	T	47272290	3	4	204	1	0	0	0	0	1	0	0	0	17734	623	22	3	832	3	ZNF157	23	47272290	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	11286527	47272290	107998270	64	14096											
MORF4L2	9643	broad.mit.edu	37	X	102931771	102931771	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:102931771C>T	uc022cbw.1	-	0	185	c.185G>A	c.(184-186)cGc>cAc	p.R62H	MORF4L2_uc004ekw.3_Missense_Mutation_p.R62H|MORF4L2_uc004ela.3_Missense_Mutation_p.R62H|MORF4L2_uc004elb.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekx.3_Missense_Mutation_p.R62H|MORF4L2_uc004eky.3_Missense_Mutation_p.R62H|MORF4L2_uc010nos.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekz.3_Missense_Mutation_p.R62H|MORF4L2_uc011mry.2_Missense_Mutation_p.R62H|MORF4L2_uc011mrz.2_Missense_Mutation_p.R62H|MORF4L2_uc004elc.3_Missense_Mutation_p.R62H|MORF4L2_uc004ele.3_Missense_Mutation_p.R62H|MORF4L2_uc004elf.3_Missense_Mutation_p.R62H|MORF4L2_uc011msa.2_Missense_Mutation_p.R62H|MORF4L2_uc011msb.2_Missense_Mutation_p.R62H|MORF4L2_uc011msc.2_Missense_Mutation_p.R62H|MORF4L2_uc011msd.2_Missense_Mutation_p.R62H|MORF4L2_uc004eld.3_Missense_Mutation_p.R62H	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.	62					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTCTGCAGAGCGACCACCCCA	0.532													T	102931771	C	T	102931771	3	4	204	1	0	0	0	0	1	0	0	0	9707	768	27	1	685	1	MORF4L2	23	102931771	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	55659481	102931771	52338789	65	14097											
MID2	11043	broad.mit.edu	37	X	107084129	107084129	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:107084129C>T	uc004enl.3	+	1	807	c.234C>T	c.(232-234)acC>acT	p.T78T	MID2_uc004enk.3_Silent_p.T78T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	78						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGTGTCCTACCTGCAGGTATG	0.512													T	107084129	C	T	107084129	2	4	204	1	0	0	0	0	0	0	0	1	9578	668	24	3		3	MID2	23	107084129	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	4152358	107084129	48186431	66	14098											
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:107977802_107977803insC	uc004eoc.2	-	0	1805_1806	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													C	107977803	-	C	107977802	7	5	204	1	0	1	1	0	0	0	0	0	7842	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-28-2509-01A-01D-1494-08	893673	107977802	47292758	67	14099											
ELF4	2000	broad.mit.edu	37	X	129201458	129201458	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:129201458delG	uc004evd.4	-	8	1615	c.1230delC	c.(1228-1230)cccfs	p.P410fs	ELF4_uc004eve.4_Frame_Shift_Del_p.P410fs	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	410					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCGACCCCACGGGGGCCACTC	0.592			T	ERG	AML								-	129201458	G	-	129201458	7	5	204	1	0	1	0	1	0	0	0	0	5056	1103	39	0	765	0	ELF4	23	129201458	Frame_Shift_Del	DEL	G	TCGA-28-2509-01A-01D-1494-08	21223656	129201458	26069102	68	14100											
IGSF1	3547	broad.mit.edu	37	X	130416634	130416634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:130416634G>A	uc004ewe.4	-	6	1313	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.R344*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.R335*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.R324*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	344	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACTGGTCCTCGACACCGTAGG	0.488													A	130416634	G	A	130416634	4	1	204	1	0	0	0	0	0	1	0	0	7596	1066	37	2	3051	2	IGSF1	23	130416634	Nonsense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	1215176	130416634	24853926	69	14101											
DDX26B	203522	broad.mit.edu	37	X	134655171	134655171	+	Silent	SNP	C	C	T			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:134655171C>T	uc004eyw.4	+	1	480	c.117C>T	c.(115-117)cgC>cgT	p.R39R		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	39	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CGCAGCTGCGCGCCCGGGACC	0.632													T	134655171	C	T	134655171	2	4	204	1	0	0	0	0	0	0	0	1	4353	755	27	1		1	DDX26B	23	134655171	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	4238537	134655171	20615389	70	14102											
FLG	2312	broad.mit.edu	37	1	152280065	152280065	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr1:152280065T>C	uc001ezu.1	-	2	7333	c.7297A>G	c.(7297-7299)Acc>Gcc	p.T2433A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2433	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			CCAGTGCTGGTCCCGGTCCGT	0.597									Ichthyosis				C	152280065	T	C	152280065	3	2	205	1	0	0	0	0	1	0	0	0	5922	1667	58	4	4892	4	FLG	1	152280065	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08		152280065	96970556	1	14103											
HMCN1	83872	broad.mit.edu	37	1	186057366	186057366	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr1:186057366C>T	uc001grq.1	+	61	9764	c.9535C>T	c.(9535-9537)Cca>Tca	p.P3179S	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3179	Ig-like C2-type 30.				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						CACTGGGATCCCACCTCCCAC	0.438													T	186057366	C	T	186057366	3	4	205	1	0	0	0	0	1	0	0	0	7220	623	22	3	9781	3	HMCN1	1	186057366	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	33777301	186057366	63193255	2	14104											
LRPPRC	10128	broad.mit.edu	37	2	44203309	44203309	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr2:44203309G>A	uc002rtr.2	-	5	768	c.710C>T	c.(709-711)gCc>gTc	p.A237V	LRPPRC_uc010yob.1_Missense_Mutation_p.A137V|LRPPRC_uc010faw.1_Missense_Mutation_p.A211V	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	237					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCACAAGGGCACTGAATAC	0.398													A	44203309	G	A	44203309	3	1	205	1	0	0	0	0	1	0	0	0	8965	1203	42	3	3606	3	LRPPRC	2	44203309	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		44203309	198996064	3	14105											
TTN	7273	broad.mit.edu	37	2	179633437	179633437	+	Silent	SNP	A	A	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr2:179633437A>G	uc021vsy.1	-	37	9351	c.9126T>C	c.(9124-9126)gcT>gcC	p.A3042A	TTN_uc021vsz.1_Silent_p.A2996A|TTN_uc021vta.1_Silent_p.A2996A|TTN_uc021vtb.1_Silent_p.A2996A|TTN_uc002unb.2_Silent_p.A3042A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3042	Ig-like 17.						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)			TTGCTTTTCCAGCCACAAAGG	0.388													G	179633437	A	G	179633437	2	3	205	1	0	0	0	0	0	0	0	1	16732	175	7	4		4	TTN	2	179633437	Silent	SNP	A	TCGA-28-2510-01A-01D-1696-08	135430128	179633437	63565936	4	14106											
MUC4	4585	broad.mit.edu	37	3	195516052	195516052	+	Missense_Mutation	SNP	G	G	A	rs142259629	by1000genomes	TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr3:195516052G>A	uc021xjp.1	-	1	2555	c.2399C>T	c.(2398-2400)gCg>gTg	p.A800V	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.A682V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	805	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		AGCTGTGCCCGCTGAGGTGGT	0.587													A	195516052	G	A	195516052	3	1	205	1	0	0	0	0	1	0	0	0	9978	1087	38	1		1	MUC4	3	195516052	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		195516052	2506378	5	14107											
LIN54	132660	broad.mit.edu	37	4	83905798	83905798	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr4:83905798G>C	uc003hnx.3	-	1	578	c.200C>G	c.(199-201)aCa>aGa	p.T67R	LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.T67R|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	67					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTGTACACTGTGATTGGTTC	0.428													C	83905798	G	C	83905798	3	2	205	1	0	0	0	0	1	0	0	0	8809	1377	48	5	2097	5	LIN54	4	83905798	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		83905798	107248478	6	14108											
CLCN3	1182	broad.mit.edu	37	4	170610366	170610366	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr4:170610366C>G	uc003ish.3	+	4	1150	c.591C>G	c.(589-591)atC>atG	p.I197M	CLCN3_uc003isi.3_Missense_Mutation_p.I197M|CLCN3_uc011cka.2_Missense_Mutation_p.I197M|CLCN3_uc011cjz.2_Missense_Mutation_p.I180M|CLCN3_uc003isj.2_Missense_Mutation_p.I170M	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	197					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CAGAATTAATCATAGGTCAAG	0.353													G	170610366	C	G	170610366	3	3	205	1	0	0	0	0	1	0	0	0	3464	816	29	5	605	5	CLCN3	4	170610366	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	86704568	170610366	20543910	7	14109											
LRRC16A	55604	broad.mit.edu	37	6	25606465	25606465	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr6:25606465G>A	uc011djw.2	+	34	4179	c.3811G>A	c.(3811-3813)Gtc>Atc	p.V1271I	LRRC16A_uc010jpy.3_Missense_Mutation_p.V1265I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1271					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCACGGCCCGTCATCCCGCA	0.607													A	25606465	G	A	25606465	3	1	205	1	0	0	0	0	1	0	0	0	8971	1145	40	1	3949	1	LRRC16A	6	25606465	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		25606465	145508602	8	14110											
CHN2	1124	broad.mit.edu	37	7	29407575	29407575	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr7:29407575G>A	uc003szz.3	+	2	553	c.116G>A	c.(115-117)cGt>cAt	p.R39H	CHN2_uc011jzs.2_Missense_Mutation_p.R114H|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Intron|CHN2_uc011jzt.2_Missense_Mutation_p.R52H|CHN2_uc010kvd.3_Missense_Mutation_p.R39H|CHN2_uc011jzu.2_Missense_Mutation_p.R24H	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	39					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.R39C(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAGGCACCTCGTCCCAAGAGA	0.413													A	29407575	G	A	29407575	3	1	205	1	0	0	0	0	1	0	0	0	3363	1145	40	1	126	1	CHN2	7	29407575	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		29407575	129731088	9	14111											
SAMD9	54809	broad.mit.edu	37	7	92731863	92731863	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr7:92731863G>A	uc003umf.3	-	2	3818	c.3548C>T	c.(3547-3549)cCg>cTg	p.P1183L	SAMD9_uc003umg.3_Missense_Mutation_p.P1183L|SAMD9_uc022ahg.1_Missense_Mutation_p.P1183L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1183						cytoplasm		p.P1183Q(2)|p.P1183P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTGACTTCGGATACAATCT	0.378													A	92731863	G	A	92731863	3	1	205	1	0	0	0	0	1	0	0	0	13826	1116	39	2	1225	2	SAMD9	7	92731863	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	63324288	92731863	66406800	10	14112											
PTEN	5728	broad.mit.edu	37	10	89711900	89711900	+	Missense_Mutation	SNP	G	G	A	rs121913294		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:89711900G>A	uc001kfb.3	+	5	1550	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R173H(47)|p.R173C(37)|p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.R173P(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R172R(1)|p.R172W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTCAGAGGCGCTATGTGTAT	0.348	R173H(RL952_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89711900	G	A	89711900	3	1	205	1	0	0	0	0	1	0	0	0	12738	1087	38	1	540	1	PTEN	10	89711900	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		89711900	45822847	11	14113											
POLL	27343	broad.mit.edu	37	10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	rs146112511		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:103342623C>T	uc001ktg.1	-	5	1857	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R37H|POLL_uc001kte.1_Missense_Mutation_p.R56H|POLL_uc001kth.1_Missense_Mutation_p.R89H|POLL_uc001ktj.2_Missense_Mutation_p.R364H|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.R272H|POLL_uc001kti.2_Missense_Mutation_p.R364H|POLL_uc001ktl.3_Missense_Mutation_p.R276H|POLL_uc001ktm.3_Missense_Mutation_p.R364H|POLL_uc010qqc.2_Missense_Mutation_p.R56H|POLL_uc010qqa.2_Missense_Mutation_p.R103H	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	364					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)					T	103342623	C	T	103342623	3	4	205	1	0	0	0	0	1	0	0	0	12205	768	27	1	648	1	POLL	10	103342623	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	13630723	103342623	32192124	12	14114											
C10orf96	374355	broad.mit.edu	37	10	118084588	118084588	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:118084588G>A	uc001lck.3	+	1	316	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	22								p.R22H(2)		kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		GAGAGTCGCCGTTTGATGCGA	0.557													A	118084588	G	A	118084588	3	1	205	1	0	0	0	0	1	0	0	0	1627	1145	40	1	67	1	C10orf96	10	118084588	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	14741965	118084588	17450159	13	14115											
LPXN	9404	broad.mit.edu	37	11	58318640	58318640	+	Silent	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:58318640C>T	uc001nmw.3	-	4	529	c.384G>A	c.(382-384)ctG>ctA	p.L128L	LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Silent_p.L133L|LPXN_uc010rkk.2_Silent_p.L108L|LPXN_uc010rkl.2_Non-coding_Transcript	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	128					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCATTGAGTCCAGGGAGGCCT	0.557													T	58318640	C	T	58318640	2	4	205	1	0	0	0	0	0	0	0	1	8929	581	21	3		3	LPXN	11	58318640	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08		58318640	76687876	14	14116											
AHNAK	79026	broad.mit.edu	37	11	62296010	62296010	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:62296010A>G	uc001ntl.3	-	4	6179	c.5879T>C	c.(5878-5880)gTg>gCg	p.V1960A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1960					nervous system development	nucleus	protein binding	p.V1960A(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACATCAGGCACCTCCACACC	0.507													G	62296010	A	G	62296010	3	3	205	1	0	0	0	0	1	0	0	0	414	159	6	4	11913	4	AHNAK	11	62296010	Missense_Mutation	SNP	A	TCGA-28-2510-01A-01D-1696-08	3977370	62296010	72710506	15	14117											
C11orf65	160140	broad.mit.edu	37	11	108302505	108302505	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:108302505G>A	uc001pkh.3	-	2	212	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACTATCTGACGTGGTTCTCCT	0.299													A	108302505	G	A	108302505	3	1	205	1	0	0	0	0	1	0	0	0	1655	1145	40	1	827	1	C11orf65	11	108302505	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	46006495	108302505	26704011	16	14118											
OR8D1	283159	broad.mit.edu	37	11	124180280	124180280	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:124180280C>T	uc010sag.2	-	0	383	c.383G>A	c.(382-384)aGc>aAc	p.S128N		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAGCAGTGGGCTACAGATGGC	0.498													T	124180280	C	T	124180280	3	4	205	1	0	0	0	0	1	0	0	0	11231	797	28	3	546	3	OR8D1	11	124180280	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	15877775	124180280	10826236	17	14119											
ZBTB39	9880	broad.mit.edu	37	12	57396726	57396726	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:57396726A>G	uc001sml.2	-	1	2129	c.1976T>C	c.(1975-1977)cTc>cCc	p.L659P	ZBTB39_uc021qzg.1_Missense_Mutation_p.L659P	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCGGTACATGAGGGCCCCCGA	0.557													G	57396726	A	G	57396726	3	3	205	1	0	0	0	0	1	0	0	0	17537	304	11	4	166	4	ZBTB39	12	57396726	Missense_Mutation	SNP	A	TCGA-28-2510-01A-01D-1696-08		57396726	76455169	18	14120											
CUX2	23316	broad.mit.edu	37	12	111748209	111748209	+	Silent	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:111748209C>T	uc001tsa.2	+	14	1777	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	541						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGGTGGGGGCGGAGCGGCGG	0.721													T	111748209	C	T	111748209	2	4	205	1	0	0	0	0	0	0	0	1	4065	755	27	1		1	CUX2	12	111748209	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08	54351483	111748209	22103686	19	14121											
RIMBP2	23504	broad.mit.edu	37	12	130898833	130898833	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:130898833C>T	uc001uil.2	-	13	2705	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	830						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGAGAAAGGCGGTCTCGCCC	0.572													T	130898833	C	T	130898833	3	4	205	1	0	0	0	0	1	0	0	0	13363	768	27	1	693	1	RIMBP2	12	130898833	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	19150624	130898833	2953062	20	14122											
NID2	22795	broad.mit.edu	37	14	52507433	52507433	+	Silent	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr14:52507433G>A	uc001wzo.3	-	7	2196	c.1962C>T	c.(1960-1962)taC>taT	p.Y654Y	NID2_uc010tqs.2_Silent_p.Y654Y|NID2_uc010tqt.1_Silent_p.Y654Y|NID2_uc001wzp.3_Silent_p.Y654Y	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	654	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TTGCTGAGACGTAAGGCACCT	0.498													A	52507433	G	A	52507433	2	1	205	1	0	0	0	0	0	0	0	1	10415	1140	40	1		1	NID2	14	52507433	Silent	SNP	G	TCGA-28-2510-01A-01D-1696-08		52507433	54842107	21	14123											
RBM25	58517	broad.mit.edu	37	14	73578303	73578303	+	Silent	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr14:73578303T>C	uc010ttu.2	+	16	2361	c.2085T>C	c.(2083-2085)ttT>ttC	p.F695F	RBM25_uc001xno.3_Silent_p.F695F|RBM25_uc001xnp.3_Silent_p.F490F	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	695					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAGTGTCTTTAACAAATTTG	0.403													C	73578303	T	C	73578303	2	2	205	1	0	0	0	0	0	0	0	1	13125	1751	61	4		4	RBM25	14	73578303	Silent	SNP	T	TCGA-28-2510-01A-01D-1696-08	21070870	73578303	33771237	22	14124											
ADAM10	102	broad.mit.edu	37	15	58904096	58904096	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr15:58904096A>C	uc002afd.1	-	11	2050	c.1606T>G	c.(1606-1608)Tgt>Ggt	p.C536G	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.C235G|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.C73G	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	536	Disintegrin.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AAGCCATTACATATTCCTTCC	0.448													C	58904096	A	C	58904096	3	2	205	1	0	0	0	0	1	0	0	0	234	217	8	5	660	5	ADAM10	15	58904096	Missense_Mutation	SNP	A	TCGA-28-2510-01A-01D-1696-08		58904096	43627296	23	14125											
SNX29	92017	broad.mit.edu	37	16	12220512	12220512	+	Silent	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr16:12220512G>A	uc002dby.4	+	11	1487	c.270G>A	c.(268-270)gtG>gtA	p.V90V	SNX29_uc010uyx.1_Silent_p.V117V	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	90					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGCCACTGTGGCCATGATGA	0.488													A	12220512	G	A	12220512	2	1	205	1	0	0	0	0	0	0	0	1	14898	1335	47	3		3	SNX29	16	12220512	Silent	SNP	G	TCGA-28-2510-01A-01D-1696-08		12220512	78134241	24	14126											
GTF3C1	2975	broad.mit.edu	37	16	27480738	27480738	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr16:27480738C>T	uc002dov.2	-	31	4988	c.4948G>A	c.(4948-4950)Ggc>Agc	p.G1650S	GTF3C1_uc002dou.3_Missense_Mutation_p.G1650S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1650						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAGTAGTAGCCCCTCATCAGC	0.602													T	27480738	C	T	27480738	3	4	205	1	0	0	0	0	1	0	0	0	6872	623	22	3	1405	3	GTF3C1	16	27480738	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	15260226	27480738	62874015	25	14127											
CTAGE1	64693	broad.mit.edu	37	18	19997766	19997766	+	Silent	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr18:19997766G>A	uc002ktv.1	-	0	113	c.9C>T	c.(7-9)ccC>ccT	p.P3P		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	3						integral to membrane		p.P3P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GATGAGAATCGGGTCTCATAC	0.507													A	19997766	G	A	19997766	2	1	205	1	0	0	0	0	0	0	0	1	3992	1103	39	2		2	CTAGE1	18	19997766	Silent	SNP	G	TCGA-28-2510-01A-01D-1696-08		19997766	58079482	26	14128											
SERPINB3	6318	broad.mit.edu	37	18	61325755	61325755	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr18:61325755T>A	uc002lji.3	-	4	605	c.461A>T	c.(460-462)cAa>cTa	p.Q154L	SERPINB3_uc002ljg.3_Missense_Mutation_p.Q154L|SERPINB3_uc010dqa.3_Missense_Mutation_p.Q154L|SERPINB3_uc010dqb.3_3'UTR	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	154					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACCATTCGTTTGACTTTCCAC	0.448													A	61325755	T	A	61325755	3	1	205	1	0	0	0	0	1	0	0	0	14102	1812	63	5	727	5	SERPINB3	18	61325755	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08	41327989	61325755	16751493	27	14129											
OR7A5	26659	broad.mit.edu	37	19	14938368	14938368	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:14938368G>A	uc002mzw.3	-	0	909	c.686C>T	c.(685-687)tCa>tTa	p.S229L	OR7A5_uc010xoa.2_Missense_Mutation_p.S229L	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CTGAGCTGATGAGATTGCATG	0.448													A	14938368	G	A	14938368	3	1	205	1	0	0	0	0	1	0	0	0	11216	1294	45	3	277	3	OR7A5	19	14938368	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		14938368	44190615	28	14130											
HIPK4	147746	broad.mit.edu	37	19	40890043	40890043	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:40890043T>C	uc002onp.3	-	1	754	c.469A>G	c.(469-471)Att>Gtt	p.I157V		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	157	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCGAAGTCAATCACCTGTCGG	0.627													C	40890043	T	C	40890043	3	2	205	1	0	0	0	0	1	0	0	0	7119	1435	50	4	1393	4	HIPK4	19	40890043	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08	25951675	40890043	18238940	29	14131											
SPTBN4	57731	broad.mit.edu	37	19	41060491	41060491	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:41060491G>A	uc002ony.3	+	23	5109	c.5023G>A	c.(5023-5025)Gaa>Aaa	p.E1675K	SPTBN4_uc002onx.3_Missense_Mutation_p.E1675K|SPTBN4_uc002onz.3_Missense_Mutation_p.E1675K|SPTBN4_uc010egx.3_Missense_Mutation_p.E418K|SPTBN4_uc010egy.1_Missense_Mutation_p.E351K|SPTBN4_uc002ooa.3_Missense_Mutation_p.E351K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1675					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			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)			GAACTACGAGGAAAGCATCGC	0.662													A	41060491	G	A	41060491	3	1	205	1	0	0	0	0	1	0	0	0	15120	1175	41	3	5113	3	SPTBN4	19	41060491	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	170448	41060491	18068492	30	14132											
KLK13	26085	broad.mit.edu	37	19	51563780	51563780	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:51563780T>C	uc002pvn.3	-	1	192	c.149A>G	c.(148-150)cAg>cGg	p.Q50R	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Missense_Mutation_p.Q50R|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Missense_Mutation_p.Q50R	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	50	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TAGGGCAGCCTGCCAGGGCTG	0.602													C	51563780	T	C	51563780	3	2	205	1	0	0	0	0	1	0	0	0	8401	1580	55	4	700	4	KLK13	19	51563780	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08	10503289	51563780	7565203	31	14133											
NLRP4	147945	broad.mit.edu	37	19	56372800	56372800	+	Silent	SNP	C	C	A			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:56372800C>A	uc002qmd.4	+	3	2327	c.1905C>A	c.(1903-1905)acC>acA	p.T635T	NLRP4_uc002qmf.3_Silent_p.T560T|NLRP4_uc010etf.3_Silent_p.T466T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	635							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGTGCTCACCACCAGCGGGC	0.592													A	56372800	C	A	56372800	2	1	205	1	0	0	0	0	0	0	0	1	10479	581	21	5		5	NLRP4	19	56372800	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08	4809020	56372800	2756183	32	14134											
BEND2	139105	broad.mit.edu	37	X	18195711	18195711	+	Silent	SNP	C	C	T	rs150572716		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chrX:18195711C>T	uc004cyj.4	-	9	1762	c.1608G>A	c.(1606-1608)ccG>ccA	p.P536P	BEND2_uc010nfb.2_Silent_p.P445P	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	536	BEN 1.							p.P536Q(2)|p.P536P(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCATTTTGTTCGGGTCGAGGG	0.388													T	18195711	C	T	18195711	2	4	205	1	0	0	0	0	0	0	0	1	1398	871	31	2		2	BEND2	23	18195711	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08		18195711	137074849	33	14135											
YY2	404281	broad.mit.edu	37	X	21875351	21875351	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chrX:21875351C>T	uc011mjp.2	+	0	1247	c.749C>T	c.(748-750)cCt>cTt	p.P250L	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	250	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AAAGGAGAACCTCCCAAAACA	0.502													T	21875351	C	T	21875351	3	4	205	1	0	0	0	0	1	0	0	0	17506	681	24	3	751	3	YY2	23	21875351	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	3679640	21875351	133395209	34	14136											
ZFYVE9	9372	broad.mit.edu	37	1	52704095	52704095	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:52704095G>T	uc001cto.3	+	3	1178	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	ZFYVE9_uc001ctn.3_Missense_Mutation_p.G336C|ZFYVE9_uc001ctp.3_Missense_Mutation_p.G336C	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	336					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCTCCGGTCTGGTTTACCTTT	0.468													T	52704095	G	T	52704095	3	4	206	1	0	0	0	0	1	0	0	0	17668	1348	47	5	1012	5	ZFYVE9	1	52704095	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		52704095	196546526	1	14137											
FLG	2312	broad.mit.edu	37	1	152275656	152275656	+	Silent	SNP	G	G	A	rs147335121		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:152275656G>A	uc001ezu.1	-	2	11742	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3902L(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)			GAGAGGATCCGGGGTGTCTGG	0.517									Ichthyosis				A	152275656	G	A	152275656	2	1	206	1	0	0	0	0	0	0	0	1	5922	1103	39	2		2	FLG	1	152275656	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	99571561	152275656	96974965	2	14138											
FLG2	388698	broad.mit.edu	37	1	152329436	152329436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:152329436G>A	uc001ezw.4	-	2	899	c.826C>T	c.(826-828)Cga>Tga	p.R276*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	276	Ser-rich.		R -> Q (in dbSNP:rs2282303).				calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCATGACTTCGCCTCCCACTG	0.448													A	152329436	G	A	152329436	4	1	206	1	0	0	0	0	0	1	0	0	5923	1095	38	1	6353	1	FLG2	1	152329436	Nonsense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	53780	152329436	96921185	3	14139											
PFDN2	5202	broad.mit.edu	37	1	161072146	161072146	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:161072146C>T	uc001fxu.3	-	1	145	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	Homo sapiens prefoldin subunit 2 (PFDN2), mRNA.	32				GFNRLR -> SFNAF (in Ref. 3; AAF36151).	'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCCGAAGGCGGTTGAAGCC	0.527													T	161072146	C	T	161072146	3	4	206	1	0	0	0	0	1	0	0	0	11756	768	27	1	381	1	PFDN2	1	161072146	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	8742710	161072146	88178475	4	14140											
HMCN1	83872	broad.mit.edu	37	1	186114957	186114957	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:186114957G>A	uc001grq.1	+	92	14739	c.14510G>A	c.(14509-14511)cGg>cAg	p.R4837Q	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R406Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4837	TSP type-1 6.				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						GAAAAGACTCGGAAGCGGCTG	0.552													A	186114957	G	A	186114957	3	1	206	1	0	0	0	0	1	0	0	0	7220	1116	39	2	14880	2	HMCN1	1	186114957	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	25042811	186114957	63135664	5	14141											
CACNA1S	779	broad.mit.edu	37	1	201047161	201047161	+	Missense_Mutation	SNP	G	G	A	rs9333651		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:201047161G>A	uc001gvv.3	-	10	1692	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	489					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTACTGGCGCAGGCCCAGC	0.582													A	201047161	G	A	201047161	3	1	206	1	0	0	0	0	1	0	0	0	2547	1087	38	1	4292	1	CACNA1S	1	201047161	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	14932204	201047161	48203460	6	14142											
NRXN1	9378	broad.mit.edu	37	2	50765581	50765581	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:50765581G>A	uc021vhh.1	-	8	2874	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	NRXN1_uc002rxb.4_Silent_p.G323G|NRXN1_uc021vhg.1_Silent_p.G691G|NRXN1_uc021vhi.1_Silent_p.G687G|NRXN1_uc021vhj.1_Silent_p.G647G|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	651	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTGCTTTGGCCATCGATGA	0.502													A	50765581	G	A	50765581	2	1	206	1	0	0	0	0	0	0	0	1	10665	1190	42	3		3	NRXN1	2	50765581	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08		50765581	192433792	7	14143											
PSD4	23550	broad.mit.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:113940279C>T	uc002tjc.3	+	1	429	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D81D|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	82					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622													T	113940279	C	T	113940279	2	4	206	1	0	0	0	0	0	0	0	1	12649	535	19	1		1	PSD4	2	113940279	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	63174698	113940279	129259094	8	14144											
SLC4A10	57282	broad.mit.edu	37	2	162815003	162815003	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:162815003C>T	uc002ubx.4	+	20	2984	c.2800C>T	c.(2800-2802)Ccc>Tcc	p.P934S	SLC4A10_uc010zcs.2_Missense_Mutation_p.P915S|SLC4A10_uc002uby.4_Missense_Mutation_p.P904S	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	934					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACAGTTTATTCCCATGCCAGT	0.343													T	162815003	C	T	162815003	3	4	206	1	0	0	0	0	1	0	0	0	14651	855	30	3	2967	3	SLC4A10	2	162815003	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	48874724	162815003	80384370	9	14145											
TTN	7273	broad.mit.edu	37	2	179469893	179469893	+	Missense_Mutation	SNP	T	T	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:179469893T>G	uc021vsy.1	-	228	46532	c.46307A>C	c.(46306-46308)gAa>gCa	p.E15436A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9131A|TTN_uc021vta.1_Missense_Mutation_p.E9064A|TTN_uc021vtb.1_Missense_Mutation_p.E8939A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16363	Fibronectin type-III 12.						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)			AATTACAGTTTCATTTTTGGA	0.468													G	179469893	T	G	179469893	3	3	206	1	0	0	0	0	1	0	0	0	16732	1783	62	5	54014	5	TTN	2	179469893	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	16654890	179469893	63729480	10	14146											
ZNF804A	91752	broad.mit.edu	37	2	185802437	185802437	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:185802437C>T	uc002uph.3	+	3	2908	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	772						intracellular	zinc ion binding	p.R772C(2)|p.R772R(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						CTATCGAAAACGTAGACAACA	0.343													T	185802437	C	T	185802437	3	4	206	1	0	0	0	0	1	0	0	0	18167	536	19	1	2328	1	ZNF804A	2	185802437	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	6332544	185802437	57396936	11	14147											
NBEAL1	65065	broad.mit.edu	37	2	204000539	204000539	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:204000539T>C	uc002uzt.3	+	26	4199	c.3866T>C	c.(3865-3867)gTt>gCt	p.V1289A	NBEAL1_uc021vvj.1_5'UTR	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1289							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTAGAGCTGTTTTAATGAAA	0.343													C	204000539	T	C	204000539	3	2	206	1	0	0	0	0	1	0	0	0	10188	1725	60	4	3968	4	NBEAL1	2	204000539	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	18198102	204000539	39198834	12	14148											
CADM2	253559	broad.mit.edu	37	3	85932587	85932587	+	Missense_Mutation	SNP	G	G	A	rs138383256		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:85932587G>A	uc003dql.3	+	2	364	c.364G>A	c.(364-366)Gtt>Att	p.V122I	CADM2_uc003dqj.3_Missense_Mutation_p.V120I|CADM2_uc003dqk.3_Missense_Mutation_p.V129I|CADM2_uc003dqm.2_Missense_Mutation_p.V12I|CADM2_uc021xay.1_Missense_Mutation_p.V12I|CADM2_uc021xaz.1_Missense_Mutation_p.V12I|CADM2_uc021xba.1_Missense_Mutation_p.V12I	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	120					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATATCTCACCGTTCTGGGTAA	0.358													A	85932587	G	A	85932587	3	1	206	1	0	0	0	0	1	0	0	0	2567	1145	40	1	439	1	CADM2	3	85932587	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		85932587	112089843	13	14149											
MYLK	4638	broad.mit.edu	37	3	123333123	123333123	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:123333123G>A	uc003ego.3	-	33	5856	c.5574C>T	c.(5572-5574)gaC>gaT	p.D1858D	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Silent_p.D98D|MYLK_uc003egm.3_Silent_p.D97D|MYLK_uc010hrr.3_Silent_p.D293D|MYLK_uc011bjv.2_Silent_p.D658D|MYLK_uc011bjw.2_Silent_p.D1857D|MYLK_uc003egp.3_Silent_p.D1789D|MYLK_uc003egq.3_Silent_p.D1807D|MYLK_uc003egr.3_Silent_p.D1738D|MYLK_uc003egs.3_Silent_p.D1682D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1858	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			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)		CCTCATCGTAGTCTATCTGGA	0.502													A	123333123	G	A	123333123	2	1	206	1	0	0	0	0	0	0	0	1	10056	1020	36	3		3	MYLK	3	123333123	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	37400536	123333123	74689307	14	14150											
ZBBX	79740	broad.mit.edu	37	3	167035369	167035369	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:167035369G>C	uc011bpc.2	-	12	1337	c.1000C>G	c.(1000-1002)Ctt>Gtt	p.L334V	ZBBX_uc003feq.3_Missense_Mutation_p.L305V|ZBBX_uc003fep.3_Missense_Mutation_p.L334V	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	334						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTAAAAAGTTGCTCTTGT	0.348													C	167035369	G	C	167035369	3	2	206	1	0	0	0	0	1	0	0	0	17513	1029	36	5	1438	5	ZBBX	3	167035369	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	43702246	167035369	30987061	15	14151											
ABCC5	10057	broad.mit.edu	37	3	183665139	183665139	+	Silent	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:183665139C>A	uc003fmg.3	-	22	3552	c.3387G>T	c.(3385-3387)gcG>gcT	p.A1129A	ABCC5_uc011bqt.2_Silent_p.A657A|ABCC5_uc010hxl.3_Silent_p.A1086A	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1129	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGCGAGACCCGCATAGGCTG	0.567													A	183665139	C	A	183665139	2	1	206	1	0	0	0	0	0	0	0	1	56	639	23	5		5	ABCC5	3	183665139	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	16629770	183665139	14357291	16	14152											
EIF4G1	1981	broad.mit.edu	37	3	184044341	184044341	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:184044341G>A	uc003fnp.3	+	21	3520	c.3249G>A	c.(3247-3249)caG>caA	p.Q1083Q	EIF4G1_uc010hxx.3_Silent_p.Q1090Q|EIF4G1_uc003fnt.3_Silent_p.Q794Q|EIF4G1_uc010hxy.3_Silent_p.Q1090Q|EIF4G1_uc003fnq.3_Silent_p.Q996Q|EIF4G1_uc003fnr.3_Silent_p.Q919Q|EIF4G1_uc003fns.3_Silent_p.Q1043Q|EIF4G1_uc003fnv.4_Silent_p.Q1084Q|EIF4G1_uc003fnw.3_Silent_p.Q1090Q|EIF4G1_uc003fnx.3_Silent_p.Q888Q	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1083	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTAACAACCAGCTCTTTGCAC	0.587													A	184044341	G	A	184044341	2	1	206	1	0	0	0	0	0	0	0	1	5036	962	34	3		3	EIF4G1	3	184044341	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	379202	184044341	13978089	17	14153											
CCDC96	257236	broad.mit.edu	37	4	7043696	7043696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:7043696C>A	uc003gjv.2	-	0	1033	c.970G>T	c.(970-972)Gag>Tag	p.E324*	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	324										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CACTCCTTCTCCACCCTGGTG	0.642													A	7043696	C	A	7043696	4	1	206	1	0	0	0	0	0	1	0	0	2874	864	30	5	701	5	CCDC96	4	7043696	Nonsense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		7043696	184110580	18	14154											
FGFBP1	9982	broad.mit.edu	37	4	15937922	15937922	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:15937922A>G	uc003gom.3	-	2	629	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	FGFBP1_uc021xml.1_Missense_Mutation_p.Y112H	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	112					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TGTTTCCAATAGACTCTCTCA	0.448													G	15937922	A	G	15937922	3	3	206	1	0	0	0	0	1	0	0	0	5860	420	15	4	374	4	FGFBP1	4	15937922	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08	8894226	15937922	175216354	19	14155											
ARAP2	116984	broad.mit.edu	37	4	36168644	36168644	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:36168644G>C	uc003gsq.2	-	9	2221	c.1883C>G	c.(1882-1884)aCc>aGc	p.T628S	ARAP2_uc003gsr.1_Missense_Mutation_p.T628S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	628	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.T628P(1)|p.T628T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGGAATTATGGTAATACCAAG	0.294													C	36168644	G	C	36168644	3	2	206	1	0	0	0	0	1	0	0	0	839	1261	44	5	3327	5	ARAP2	4	36168644	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	20230722	36168644	154985632	20	14156											
RBM47	54502	broad.mit.edu	37	4	40440352	40440352	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:40440352C>T	uc003gvc.2	-	3	1269	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	RBM47_uc003gvd.2_Missense_Mutation_p.A187T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A149T|RBM47_uc003gvg.1_Missense_Mutation_p.A187T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	187	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGTCGGCCGCGCTGGCGTAG	0.637													T	40440352	C	T	40440352	3	4	206	1	0	0	0	0	1	0	0	0	13141	768	27	1	1238	1	RBM47	4	40440352	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	4271708	40440352	150713924	21	14157											
TMEM150C	441027	broad.mit.edu	37	4	83417295	83417295	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:83417295G>T	uc011ccj.1	-	5	494	c.379C>A	c.(379-381)Ccg>Acg	p.P127T	TMEM150C_uc003hmy.1_Missense_Mutation_p.P97T	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	97						integral to membrane				ovary(1)	1						TTCAGCCACGGGTTTAAAACC	0.418													T	83417295	G	T	83417295	3	4	206	1	0	0	0	0	1	0	0	0	16066	1232	43	5	472	5	TMEM150C	4	83417295	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	42976943	83417295	107736981	22	14158											
ENPEP	2028	broad.mit.edu	37	4	111430927	111430927	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:111430927G>T	uc003iab.4	+	4	1500	c.1158G>T	c.(1156-1158)agG>agT	p.R386S		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	386					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACCAACAGAGGGTGGCCACTG	0.453													T	111430927	G	T	111430927	3	4	206	1	0	0	0	0	1	0	0	0	5128	1223	43	5	1176	5	ENPEP	4	111430927	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	28013632	111430927	79723349	23	14159											
ALPK1	80216	broad.mit.edu	37	4	113353567	113353567	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:113353567G>A	uc003ian.4	+	10	3091	c.2864G>A	c.(2863-2865)gGg>gAg	p.G955E	ALPK1_uc003iap.4_Missense_Mutation_p.G955E|ALPK1_uc011cfx.2_Missense_Mutation_p.G877E|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.G783E	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	955	Ser-rich.						ATP binding|protein serine/threonine kinase activity			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)		AATTCCAGTGGGAGTTCTTGG	0.512													A	113353567	G	A	113353567	3	1	206	1	0	0	0	0	1	0	0	0	544	1232	43	3	2898	3	ALPK1	4	113353567	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	1922640	113353567	77800709	24	14160											
PPID	5481	broad.mit.edu	37	4	159638287	159638287	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:159638287A>C	uc003iqc.3	-	3	511	c.399T>G	c.(397-399)ttT>ttG	p.F133L		NM_005038	NP_005029	Q08752	PPID_HUMAN	Homo sapiens peptidylprolyl isomerase D (PPID), mRNA.	133	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CTGTTGTGATAAAAAACTGAG	0.403													C	159638287	A	C	159638287	3	2	206	1	0	0	0	0	1	0	0	0	12321	359	13	5	741	5	PPID	4	159638287	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08	46284720	159638287	31515989	25	14161											
PIK3R1	5295	broad.mit.edu	37	5	67591085	67591085	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:67591085G>C	uc003jva.3	+	12	2258	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	PIK3R1_uc003jvc.3_Missense_Mutation_p.D260H|PIK3R1_uc003jvd.3_Missense_Mutation_p.D290H|PIK3R1_uc003jve.3_Missense_Mutation_p.D239H|PIK3R1_uc021xzn.1_Missense_Mutation_p.D197H|PIK3R1_uc011crb.2_Missense_Mutation_p.D230H	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	560					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560H(2)|p.D560_S565del(2)|p.R557_K561>Q(2)|p.D560Y(2)|p.0?(1)|p.?(1)|p.R557_D560del(1)|p.I559V(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCGAGAAATTGACAAACGTAT	0.358			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			C	67591085	G	C	67591085	3	2	206	1	0	0	0	0	1	0	0	0	11918	1290	45	5	1854	5	PIK3R1	5	67591085	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		67591085	113324175	26	14162											
MCTP1	79772	broad.mit.edu	37	5	94288921	94288921	+	Splice_Site	SNP	A	A	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:94288921A>G	uc003kkx.2	-	3	981	c.981_splice	c.e3+1	p.K327_splice	MCTP1_uc003kkv.2_Splice_Site_p.K106_splice|MCTP1_uc003kkw.2_Splice_Site_p.K106_splice|MCTP1_uc003kkz.2_Splice_Site	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	327	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAAATGGCTCACCTTTATATA	0.363													G	94288921	A	G	94288921	5	3	206	1	0	0	0	0	0	0	1	0	9400	173	6	4	2100	4	MCTP1	5	94288921	Splice_Site	SNP	A	TCGA-28-2513-01A-01D-1494-08	26697836	94288921	86626339	27	14163											
YIPF5	81555	broad.mit.edu	37	5	143540055	143540055	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:143540055A>C	uc003lnk.4	-	5	1121	c.680T>G	c.(679-681)tTt>tGt	p.F227C	YIPF5_uc003lnl.4_Missense_Mutation_p.F227C|YIPF5_uc010jgl.3_Missense_Mutation_p.F173C	NM_001024947	NP_110426	Q969M3	YIPF5_HUMAN	Homo sapiens Yip1 domain family, member 5 (YIPF5), transcript variant 1, mRNA.	227					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGCAGAAATAAATATTTTGGA	0.388													C	143540055	A	C	143540055	3	2	206	1	0	0	0	0	1	0	0	0	17478	14	1	5	97	5	YIPF5	5	143540055	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08	49251134	143540055	37375205	28	14164											
FAT2	2196	broad.mit.edu	37	5	150921921	150921921	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:150921921C>T	uc003lue.4	-	8	8780	c.8767G>A	c.(8767-8769)Gaa>Aaa	p.E2923K		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2923	Cadherin 26.				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)			GCCACCAGTTCGCCAGGCTCA	0.512													T	150921921	C	T	150921921	3	4	206	1	0	0	0	0	1	0	0	0	5690	893	31	2	4342	2	FAT2	5	150921921	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	7381866	150921921	29993339	29	14165											
BTN3A2	11118	broad.mit.edu	37	6	26373202	26373202	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:26373202G>A	uc010jqh.2	+	5	1052	c.793G>A	c.(793-795)Gga>Aga	p.G265R	BTN3A2_uc003nhp.3_Missense_Mutation_p.G265R|BTN3A2_uc011dkd.2_Missense_Mutation_p.G223R|BTN3A2_uc011dke.2_Missense_Mutation_p.G242R|BTN3A2_uc010jqi.2_Missense_Mutation_p.G265R	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	265						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GCTTCTCGCCGGAGCCAGTTA	0.542													A	26373202	G	A	26373202	3	1	206	1	0	0	0	0	1	0	0	0	1563	1117	39	2	807	2	BTN3A2	6	26373202	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		26373202	144741865	30	14166											
PRSS35	167681	broad.mit.edu	37	6	84234218	84234218	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:84234218G>A	uc003pjz.3	+	1	1298	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PRSS35_uc010kbm.3_Missense_Mutation_p.R353H|PRSS35_uc021zce.1_Missense_Mutation_p.R353H	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	353	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R353H(2)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTCTATCTGCGTCTGAAAGAT	0.512													A	84234218	G	A	84234218	3	1	206	1	0	0	0	0	1	0	0	0	12624	1145	40	1	1060	1	PRSS35	6	84234218	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	57861016	84234218	86880849	31	14167											
REPS1	85021	broad.mit.edu	37	6	139251126	139251126	+	Frame_Shift_Del	DEL	A	A	-			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:139251126delA	uc003qii.3	-	8	1824	c.1245delT	c.(1243-1245)aatfs	p.N415fs	REPS1_uc003qig.4_Frame_Shift_Del_p.N415fs|REPS1_uc011edr.2_Frame_Shift_Del_p.N415fs|REPS1_uc003qij.3_Frame_Shift_Del_p.N415fs|REPS1_uc003qik.3_Frame_Shift_Del_p.N48fs	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	415						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CACTGCTCTGATTCAGCTCAG	0.448													-	139251126	A	-	139251126	7	5	206	1	0	1	0	1	0	0	0	0	13228	330	12	0	1193	0	REPS1	6	139251126	Frame_Shift_Del	DEL	A	TCGA-28-2513-01A-01D-1494-08	55016908	139251126	31863941	32	14168											
OPRM1	4988	broad.mit.edu	37	6	154412222	154412222	+	Missense_Mutation	SNP	G	G	A	rs1799974		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:154412222G>A	uc011efe.2	+	4	1581	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	OPRM1_uc011efd.2_Missense_Mutation_p.R160H|OPRM1_uc011efc.1_Missense_Mutation_p.R179H|OPRM1_uc003qpn.2_Missense_Mutation_p.R260H|OPRM1_uc003qpo.1_Missense_Mutation_p.R260H|OPRM1_uc011eff.1_Missense_Mutation_p.R260H|OPRM1_uc011efg.1_Missense_Mutation_p.R260H|OPRM1_uc011efi.2_Missense_Mutation_p.R260H|OPRM1_uc011efh.1_Missense_Mutation_p.R260H|OPRM1_uc003qpq.1_Missense_Mutation_p.R260H|OPRM1_uc003qpr.2_Missense_Mutation_p.R260H|OPRM1_uc003qpt.1_Missense_Mutation_p.R260H|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.R160H|OPRM1_uc003qpu.2_Missense_Mutation_p.R160H	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	260					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R260H(4)|p.R353H(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATGATCTTGCGCCTCAAGAGT	0.502													A	154412222	G	A	154412222	3	1	206	1	0	0	0	0	1	0	0	0	10887	1087	38	1	1123	1	OPRM1	6	154412222	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	15161096	154412222	16702845	33	14169											
RABGEF1	27342	broad.mit.edu	37	7	66240254	66240254	+	Missense_Mutation	SNP	A	A	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:66240254A>T	uc003tvf.3	+	5					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Missense_Mutation_p.S74C|RABGEF1_uc010lag.3_Missense_Mutation_p.S74C|RABGEF1_uc011kee.2_Missense_Mutation_p.S88C|RABGEF1_uc003tvi.3_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAGCAGTCAGAGCAGCCAAGG	0.473													T	66240254	A	T	66240254	3	4	206	1	0	0	0	0	1	0	0	0	12966	304	11	5	226	5	RABGEF1	7	66240254	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08		66240254	92898409	34	14170											
PPP1R3A	5506	broad.mit.edu	37	7	113519322	113519322	+	Missense_Mutation	SNP	C	C	T	rs144397367		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:113519322C>T	uc010ljy.1	-	3	1856	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	609					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTCCTAAAGCGCTGCCTTCA	0.403													T	113519322	C	T	113519322	3	4	206	1	0	0	0	0	1	0	0	0	12371	768	27	1	1547	1	PPP1R3A	7	113519322	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	47279068	113519322	45619341	35	14171											
ZNF786	136051	broad.mit.edu	37	7	148769373	148769373	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:148769373C>T	uc003wfh.2	-	3	628	c.491G>A	c.(490-492)gGa>gAa	p.G164E	ZNF786_uc011kuk.1_Missense_Mutation_p.G127E|ZNF786_uc003wfi.2_Missense_Mutation_p.G78E	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACCTGGGATTCCTTCTTTTAG	0.617													T	148769373	C	T	148769373	3	4	206	1	0	0	0	0	1	0	0	0	18155	855	30	3	1861	3	ZNF786	7	148769373	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	35250051	148769373	10369290	36	14172											
KRBA1	84626	broad.mit.edu	37	7	149427522	149427522	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:149427522G>A	uc003wfz.3	+	15	2406	c.2007G>A	c.(2005-2007)agG>agA	p.R669R	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.R277R	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	670	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTTAGAGAGGGACCGCCTTC	0.642													A	149427522	G	A	149427522	2	1	206	1	0	0	0	0	0	0	0	1	8439	1223	43	3		3	KRBA1	7	149427522	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	658149	149427522	9711141	37	14173											
NSMAF	8439	broad.mit.edu	37	8	59512581	59512581	+	Splice_Site	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:59512581C>T	uc011lee.2	-	17	1435	c.1374_splice	c.e17-1	p.S458_splice	NSMAF_uc003xtt.3_Splice_Site_p.S427_splice	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	427	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTCTGCAATACTACATATGAA	0.373													T	59512581	C	T	59512581	5	4	206	1	0	0	0	0	0	0	1	0	10674	579	20	3	1533	3	NSMAF	8	59512581	Splice_Site	SNP	C	TCGA-28-2513-01A-01D-1494-08		59512581	86851441	38	14174											
PKHD1L1	93035	broad.mit.edu	37	8	110497284	110497284	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:110497284G>A	uc003yne.3	+	57	9692	c.9588G>A	c.(9586-9588)gaG>gaA	p.E3196E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3196					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.E3195D(1)|p.G3196R(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)			AGGGAGAAGAGATTGTGATAA	0.284										HNSCC(38;0.096)			A	110497284	G	A	110497284	2	1	206	1	0	0	0	0	0	0	0	1	11972	933	33	3		3	PKHD1L1	8	110497284	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	50984703	110497284	35866738	39	14175											
TRPS1	7227	broad.mit.edu	37	8	116426785	116426785	+	Missense_Mutation	SNP	G	G	T	rs145393309		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:116426785G>T	uc003yny.3	-	6	3929	c.3351C>A	c.(3349-3351)ttC>ttA	p.F1117L	TRPS1_uc011lhy.2_Missense_Mutation_p.F1108L|TRPS1_uc003ynz.3_Missense_Mutation_p.F1104L|TRPS1_uc010mcy.3_Missense_Mutation_p.F1104L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	1104	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.F1104F(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)			CTTCACTCTGGAAGTCATTAT	0.473									Langer-Giedion syndrome				T	116426785	G	T	116426785	3	4	206	1	0	0	0	0	1	0	0	0	16590	1165	41	5	537	5	TRPS1	8	116426785	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	5929501	116426785	29937237	40	14176											
COL14A1	7373	broad.mit.edu	37	8	121293282	121293282	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:121293282G>A	uc003yox.3	+	30	4073	c.3808G>A	c.(3808-3810)Gtt>Att	p.V1270I	COL14A1_uc003yoz.3_Missense_Mutation_p.V235I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1270	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			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)			AGATGCCCTGGTTTCCCAGCC	0.378													A	121293282	G	A	121293282	3	1	206	1	0	0	0	0	1	0	0	0	3671	1261	44	3	3926	3	COL14A1	8	121293282	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	4866497	121293282	25070740	41	14177											
PTEN	5728	broad.mit.edu	37	10	89693009	89693009	+	Splice_Site	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr10:89693009G>T	uc001kfb.3	+	5	1524	c.492_splice	c.e5+1	p.K164_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	164	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.Y27fs*1(2)|p.K163_V166>NKGE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACAAAAAGGTAAGTTATTT	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89693009	G	T	89693009	5	4	206	1	0	0	0	0	0	0	1	0	12738	1275	44	5	511	5	PTEN	10	89693009	Splice_Site	SNP	G	TCGA-28-2513-01A-01D-1494-08		89693009	45841738	42	14178											
PIK3AP1	118788	broad.mit.edu	37	10	98411291	98411291	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr10:98411291G>A	uc001kmq.3	-	4	958	c.830C>T	c.(829-831)gCg>gTg	p.A277V	PIK3AP1_uc001kmp.3_Missense_Mutation_p.A99V	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	277	DBB.					cytoplasm|plasma membrane				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)		CACAGGATTCGCGGCATTGGA	0.398													A	98411291	G	A	98411291	3	1	206	1	0	0	0	0	1	0	0	0	11908	1087	38	1	1639	1	PIK3AP1	10	98411291	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	8718282	98411291	37123456	43	14179											
CNGA4	1262	broad.mit.edu	37	11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:6261464C>T	uc001mco.3	+	3	555	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.A107V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	147					response to stimulus|sensory perception of smell		cAMP binding	p.A147V(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCCGCGCGCCCCGCCTC	0.587													T	6261464	C	T	6261464	3	4	206	1	0	0	0	0	1	0	0	0	3599	768	27	1	454	1	CNGA4	11	6261464	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		6261464	128745052	44	14180											
OR5D14	219436	broad.mit.edu	37	11	55563770	55563770	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:55563770C>A	uc010rim.2	+	0	739	c.739C>A	c.(739-741)Ctg>Atg	p.L247M		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGCCTCCCACCTGACTTCTAT	0.453													A	55563770	C	A	55563770	3	1	206	1	0	0	0	0	1	0	0	0	11155	680	24	5	741	5	OR5D14	11	55563770	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	49302306	55563770	79442746	45	14181											
DDI1	414301	broad.mit.edu	37	11	103908142	103908142	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:103908142C>G	uc001phr.2	+	0	835	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	198					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCAAGAGAGGCTTCGTCTCTA	0.522													G	103908142	C	G	103908142	3	3	206	1	0	0	0	0	1	0	0	0	4328	797	28	5	594	5	DDI1	11	103908142	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	48344372	103908142	31098374	46	14182											
OR8A1	390275	broad.mit.edu	37	11	124440263	124440263	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:124440263T>A	uc010san.2	+	0	299	c.299T>A	c.(298-300)gTg>gAg	p.V100E		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAGATGCTGGTGAACTTTGTG	0.463													A	124440263	T	A	124440263	3	1	206	1	0	0	0	0	1	0	0	0	11225	1696	59	5	301	5	OR8A1	11	124440263	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	20532121	124440263	10566253	47	14183											
ANKRD33	341405	broad.mit.edu	37	12	52284606	52284606	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:52284606C>A	uc001rzd.3	+	4	1054	c.876C>A	c.(874-876)agC>agA	p.S292R	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S167R|ANKRD33_uc001rze.3_Missense_Mutation_p.S188R|ANKRD33_uc001rzg.4_Missense_Mutation_p.S94R|ANKRD33_uc001rzi.4_Missense_Mutation_p.S167R	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	167										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CTACCTTGAGCCTCCCCTTTG	0.667													A	52284606	C	A	52284606	3	1	206	1	0	0	0	0	1	0	0	0	661	738	26	5	924	5	ANKRD33	12	52284606	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		52284606	81567289	48	14184											
OR6C3	254786	broad.mit.edu	37	12	55726370	55726370	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:55726370C>A	uc010spj.2	+	0	886	c.886C>A	c.(886-888)Caa>Aaa	p.Q296K		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCAAGTAAAACAAGCCTTCAA	0.338													A	55726370	C	A	55726370	3	1	206	1	0	0	0	0	1	0	0	0	11192	479	17	5	888	5	OR6C3	12	55726370	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	3441764	55726370	78125525	49	14185											
PTPRB	5787	broad.mit.edu	37	12	70933755	70933755	+	Missense_Mutation	SNP	C	C	T	rs139546127	by1000genomes	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:70933755C>T	uc001swb.4	-	21	5018	c.4988G>A	c.(4987-4989)cGa>cAa	p.R1663Q	PTPRB_uc010sto.2_Missense_Mutation_p.R1573Q|PTPRB_uc010stp.2_Missense_Mutation_p.R1573Q|PTPRB_uc001swc.4_Missense_Mutation_p.R1881Q|PTPRB_uc001swa.4_Missense_Mutation_p.R1793Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1663					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGATAATGGTCGATCCCTACG	0.413													T	70933755	C	T	70933755	3	4	206	1	0	0	0	0	1	0	0	0	12796	884	31	2	1049	2	PTPRB	12	70933755	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	15207385	70933755	62918140	50	14186											
PTPRR	5801	broad.mit.edu	37	12	71286587	71286587	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:71286587G>A	uc001swi.2	-	1	643	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	77					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R77H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATCTGGTGGCGTTTGCTTACT	0.448													A	71286587	G	A	71286587	3	1	206	1	0	0	0	0	1	0	0	0	12810	1145	40	1	1796	1	PTPRR	12	71286587	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	352832	71286587	62565308	51	14187											
C12orf63	374467	broad.mit.edu	37	12	97073486	97073486	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:97073486G>A	uc021rcc.1	+	6	1025	c.947G>A	c.(946-948)cGa>cAa	p.R316Q				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	316										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGATCAATCCGACACAGCAGA	0.453													A	97073486	G	A	97073486	3	1	206	1	0	0	0	0	1	0	0	0	1706	1058	37	2	969	2	C12orf63	12	97073486	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	25786899	97073486	36778409	52	14188											
OASL	8638	broad.mit.edu	37	12	121465457	121465457	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:121465457C>G	uc001tzj.1	-	3	827	c.821G>C	c.(820-822)tGt>tCt	p.C274S	OASL_uc001tzk.1_Intron	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	274					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGTAGATACAGATGACTTC	0.453													G	121465457	C	G	121465457	3	3	206	1	0	0	0	0	1	0	0	0	10802	478	17	5	735	5	OASL	12	121465457	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	24391971	121465457	12386438	53	14189											
EP400	57634	broad.mit.edu	37	12	132512816	132512816	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:132512816G>A	uc001ujn.3	+	26	5516	c.5364G>A	c.(5362-5364)ctG>ctA	p.L1788L	EP400_uc021rgq.1_Silent_p.L1787L|EP400_uc001ujm.3_Silent_p.L1707L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1824					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGAGTCTCTGCAGGATGTTA	0.557													A	132512816	G	A	132512816	2	1	206	1	0	0	0	0	0	0	0	1	5149	1306	46	3		3	EP400	12	132512816	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	11047359	132512816	1339079	54	14190											
KCNK10	54207	broad.mit.edu	37	14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr14:88652226G>A	uc001xwm.3	-	6	1407	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	KCNK10_uc001xwn.3_Missense_Mutation_p.R429C|KCNK10_uc001xwo.3_Missense_Mutation_p.R424C	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	424					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P428P(1)|p.P428T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607													A	88652226	G	A	88652226	3	1	206	1	0	0	0	0	1	0	0	0	8059	1087	38	1	350	1	KCNK10	14	88652226	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		88652226	18697314	55	14191											
AXIN1	8312	broad.mit.edu	37	16	339599	339599	+	Nonsense_Mutation	SNP	G	G	T	rs138816818		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:339599G>T	uc002cgp.2	-	9	2692	c.2303C>A	c.(2302-2304)tCg>tAg	p.S768*	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Nonsense_Mutation_p.S732*	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	768	Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTTCCTCTGCGATCTTGTCCT	0.637													T	339599	G	T	339599	4	4	206	1	0	0	0	0	0	1	0	0	1236	1059	37	5	293	5	AXIN1	16	339599	Nonsense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		339599	90015154	56	14192											
ATF7IP2	80063	broad.mit.edu	37	16	10534246	10534246	+	Missense_Mutation	SNP	G	G	A	rs141687995		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:10534246G>A	uc002czw.3	+	4	1280	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R374H|ATF7IP2_uc002czv.3_Missense_Mutation_p.R374H|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CTTCAAAGACGTATTAAAACA	0.289													A	10534246	G	A	10534246	3	1	206	1	0	0	0	0	1	0	0	0	1088	1145	40	1	1135	1	ATF7IP2	16	10534246	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	10194647	10534246	79820507	57	14193											
ACSM5	54988	broad.mit.edu	37	16	20442617	20442617	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:20442617C>T	uc002dhe.3	+	9	1429	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	428					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R427Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCCACTCGGCCCTTCTGTTT	0.488													T	20442617	C	T	20442617	3	4	206	1	0	0	0	0	1	0	0	0	187	739	26	3	1316	3	ACSM5	16	20442617	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	9908371	20442617	69912136	58	14194											
ITGAM	3684	broad.mit.edu	37	16	31308873	31308873	+	Silent	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:31308873C>T	uc002ebr.3	+	12	1493	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	ITGAM_uc002ebq.3_Silent_p.D465D|ITGAM_uc010cam.1_Missense_Mutation_p.R69C|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	465					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCTCCGTGGACGTGGACAGCA	0.627													T	31308873	C	T	31308873	2	4	206	1	0	0	0	0	0	0	0	1	7887	535	19	1		1	ITGAM	16	31308873	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	10866256	31308873	59045880	59	14195											
ZFHX3	463	broad.mit.edu	37	16	72821854	72821854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:72821854C>A	uc002fck.3	-	9	10994	c.10321G>T	c.(10321-10323)Gag>Tag	p.E3441*	ZFHX3_uc002fcl.3_Nonsense_Mutation_p.E2527*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3441					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTTCTGGCTCTTCAGGGAGT	0.557													A	72821854	C	A	72821854	4	1	206	1	0	0	0	0	0	1	0	0	17631	922	32	5	794	5	ZFHX3	16	72821854	Nonsense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	41512981	72821854	17532899	60	14196											
MYH1	4619	broad.mit.edu	37	17	10399320	10399320	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:10399320C>T	uc002gmo.3	-	34	5210	c.5116G>A	c.(5116-5118)Gca>Aca	p.A1706T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1706						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.I1705I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGTTCTGCGATTTTCCTG	0.532													T	10399320	C	T	10399320	3	4	206	1	0	0	0	0	1	0	0	0	10029	768	27	1	727	1	MYH1	17	10399320	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		10399320	70795890	61	14197											
MYH2	4620	broad.mit.edu	37	17	10427956	10427956	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:10427956G>A	uc010coi.3	-	34	5130	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1668W|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1668					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						TCCTGGCTCCGGAGAGCATCA	0.572													A	10427956	G	A	10427956	3	1	206	1	0	0	0	0	1	0	0	0	10035	1115	39	2	847	2	MYH2	17	10427956	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	28636	10427956	70767254	62	14198											
ACACA	31	broad.mit.edu	37	17	35615262	35615262	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:35615262C>G	uc002hnm.3	-	12	1614	c.1423G>C	c.(1423-1425)Gat>Cat	p.D475H	ACACA_uc002hnk.3_Missense_Mutation_p.D397H|ACACA_uc002hnl.3_Missense_Mutation_p.D417H|ACACA_uc002hnn.3_Missense_Mutation_p.D475H|ACACA_uc002hno.3_Missense_Mutation_p.D512H|ACACA_uc010cuz.3_Missense_Mutation_p.D475H	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	475	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACGGATATCCTTGATTCTA	0.413													G	35615262	C	G	35615262	3	3	206	1	0	0	0	0	1	0	0	0	106	855	30	5	5793	5	ACACA	17	35615262	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	25187306	35615262	45579948	63	14199											
MKS1	54903	broad.mit.edu	37	17	56294074	56294074	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:56294074C>T	uc002ivr.2	-	2	289	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	MKS1_uc010wnq.2_5'UTR|MKS1_uc021uam.1_Missense_Mutation_p.E62K	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	72					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.D71V(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCTCCTCTTCGTCTTCCTCT	0.483													T	56294074	C	T	56294074	3	4	206	1	0	0	0	0	1	0	0	0	9609	893	31	2	1529	2	MKS1	17	56294074	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	20678812	56294074	24901136	64	14200											
CDR2L	30850	broad.mit.edu	37	17	73000053	73000053	+	Missense_Mutation	SNP	C	C	T	rs144796205	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:73000053C>T	uc002jml.4	+	4	1694	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W		NM_014603	NP_055418	Q86X02	CDR2L_HUMAN	Homo sapiens cerebellar degeneration-related protein 2-like (CDR2L), mRNA.	428												all_lung(278;0.226)					CGTGGACAAGCGGCTGGAACA	0.612													T	73000053	C	T	73000053	3	4	206	1	0	0	0	0	1	0	0	0	3173	759	27	1	1300	1	CDR2L	17	73000053	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	16705979	73000053	8195157	65	14201											
ITGB4	3691	broad.mit.edu	37	17	73725429	73725429	+	Missense_Mutation	SNP	G	G	A	rs144968507		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:73725429G>A	uc002jpg.3	+	6	837	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	ITGB4_uc002jph.3_Missense_Mutation_p.R217Q|ITGB4_uc010dgo.3_Missense_Mutation_p.R217Q|ITGB4_uc002jpi.4_Missense_Mutation_p.R217Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R217Q|ITGB4_uc002jpj.3_Missense_Mutation_p.R217Q|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	217	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATGAGTTCCGGAATAAACTG	0.602													A	73725429	G	A	73725429	3	1	206	1	0	0	0	0	1	0	0	0	7897	1116	39	2	672	2	ITGB4	17	73725429	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	725376	73725429	7469781	66	14202											
ROCK1	6093	broad.mit.edu	37	18	18547745	18547745	+	Nonsense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:18547745T>A	uc002kte.3	-	25	4101	c.3160A>T	c.(3160-3162)Aaa>Taa	p.K1054*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1054					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCTGATGTTTCACTACCATC	0.353													A	18547745	T	A	18547745	4	1	206	1	0	0	0	0	0	1	0	0	13517	1792	62	5	936	5	ROCK1	18	18547745	Nonsense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08		18547745	59529503	67	14203											
CTAGE1	64693	broad.mit.edu	37	18	19996798	19996798	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:19996798T>A	uc002ktv.1	-	0	1081	c.977A>T	c.(976-978)aAt>aTt	p.N326I		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	326						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGTCTGAAGATTTTTAATATG	0.308													A	19996798	T	A	19996798	3	1	206	1	0	0	0	0	1	0	0	0	3992	1493	52	5	1264	5	CTAGE1	18	19996798	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	1449053	19996798	58080450	68	14204											
DSC2	1824	broad.mit.edu	37	18	28673541	28673541	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:28673541G>A	uc002kwl.4	-	1	589	c.135C>T	c.(133-135)gcC>gcT	p.A45A	DSC2_uc002kwk.4_Silent_p.A45A|DSC2_uc010xbo.1_Silent_p.A45A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	45					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAGTTTCTCGGCATCTAGTT	0.338													A	28673541	G	A	28673541	2	1	206	1	0	0	0	0	0	0	0	1	4766	1103	39	2		2	DSC2	18	28673541	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	8676743	28673541	49403707	69	14205											
SMAD4	4089	broad.mit.edu	37	18	48604808	48604808	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:48604808C>T	uc010xdp.2	+	11	2168	c.1630C>T	c.(1630-1632)Ccg>Tcg	p.P544S	SMAD4_uc002lfb.4_Missense_Mutation_p.P389S	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	544	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.P544P(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCATACCATGCCGATTGCAGA	0.458													T	48604808	C	T	48604808	3	4	206	1	0	0	0	0	1	0	0	0	14760	739	26	3	1672	3	SMAD4	18	48604808	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	19931267	48604808	29472440	70	14206											
SERPINB3	6318	broad.mit.edu	37	18	61305084	61305084	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:61305084C>T	uc002ljf.3	-	7	1128	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T	SERPINB3_uc002lje.3_Missense_Mutation_p.A327T|SERPINB3_uc002ljg.3_Missense_Mutation_p.A348T	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	348					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.A348T(1)|p.A348S(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						ACTACTACAGCGGTGGCAGCT	0.468													T	61305084	C	T	61305084	3	4	206	1	0	0	0	0	1	0	0	0	14102	768	27	1		1	SERPINB3	18	61305084	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	12700276	61305084	16772164	71	14207											
FBN3	84467	broad.mit.edu	37	19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:8190851C>T	uc002mjf.3	-	20	2673	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	886	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGTGTTGACGCAACGCCCG	0.637													T	8190851	C	T	8190851	3	4	206	1	0	0	0	0	1	0	0	0	5704	536	19	1	5945	1	FBN3	19	8190851	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		8190851	50938132	72	14208											
MUC16	94025	broad.mit.edu	37	19	9068764	9068764	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:9068764G>T	uc002mkp.3	-	2	18886	c.18682C>A	c.(18682-18684)Ctt>Att	p.L6228I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6230	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						GTTGTCACAAGGAGAGGTGCC	0.478													T	9068764	G	T	9068764	3	4	206	1	0	0	0	0	1	0	0	0	9973	1000	35	5	25169	5	MUC16	19	9068764	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	877913	9068764	50060219	73	14209											
RTBDN	83546	broad.mit.edu	37	19	12939705	12939705	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:12939705G>A	uc002mvj.3	-	3	646	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	RTBDN_uc002mvh.1_Missense_Mutation_p.R110C|RTBDN_uc002mvi.3_Missense_Mutation_p.R78C|RTBDN_uc021upo.1_Missense_Mutation_p.R88C	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	78						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						ACTCCACAGCGTTCTGGATGG	0.582													A	12939705	G	A	12939705	3	1	206	1	0	0	0	0	1	0	0	0	13717	1145	40	1	473	1	RTBDN	19	12939705	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	3870941	12939705	46189278	74	14210											
GTPBP3	84705	broad.mit.edu	37	19	17450006	17450006	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:17450006C>A	uc002ngg.4	+	4	930	c.835C>A	c.(835-837)Cgc>Agc	p.R279S	GTPBP3_uc010xpo.2_Missense_Mutation_p.R269S|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Missense_Mutation_p.R247S|GTPBP3_uc002ngh.4_Missense_Mutation_p.R247S	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	247					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCAGAGGCTCCGCTCAGGGGT	0.662													A	17450006	C	A	17450006	3	1	206	1	0	0	0	0	1	0	0	0	6881	652	23	5	853	5	GTPBP3	19	17450006	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	4510301	17450006	41678977	75	14211											
UBA52	7311	broad.mit.edu	37	19	18684123	18684123	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:18684123G>C	uc002njr.3	+	1	127	c.13G>C	c.(13-15)Gtg>Ctg	p.V5L	UBA52_uc002njs.3_Missense_Mutation_p.V5L|UBA52_uc021uqs.1_5'Flank	NM_001033930	NP_003324	P62987	RL40_HUMAN	Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA.	5	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						GCAGATCTTTGTGAAGACCCT	0.517													C	18684123	G	C	18684123	3	2	206	1	0	0	0	0	1	0	0	0	16828	1377	48	5	15	5	UBA52	19	18684123	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	1234117	18684123	40444860	76	14212											
ZNF787	126208	broad.mit.edu	37	19	56614551	56614551	+	Silent	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:56614551C>T	uc010eth.1	-	1	155	c.36G>A	c.(34-36)ccG>ccA	p.P12P	ZNF787_uc002qml.1_Silent_p.P12P	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CAGAATCCAGCGGCCCCGGAG	0.632													T	56614551	C	T	56614551	2	4	206	1	0	0	0	0	0	0	0	1	18156	755	27	1		1	ZNF787	19	56614551	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	37930428	56614551	2514432	77	14213											
ZFP28	140612	broad.mit.edu	37	19	57060380	57060380	+	Missense_Mutation	SNP	G	G	A	rs142184982		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:57060380G>A	uc002qnj.3	+	4	648	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ZFP28_uc002qni.3_Missense_Mutation_p.E193K|BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C192C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GGACTTCTGCGAAGGAAAGCT	0.413													A	57060380	G	A	57060380	3	1	206	1	0	0	0	0	1	0	0	0	17639	1059	37	2	595	2	ZFP28	19	57060380	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	445829	57060380	2068603	78	14214											
MRPS26	64949	broad.mit.edu	37	20	3027090	3027090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:3027090delC	uc002whs.3	+	1	324	c.284delC	c.(283-285)gccfs	p.A95fs		NM_030811	NP_110438	Q9BYN8	RT26_HUMAN	Homo sapiens mitochondrial ribosomal protein S26 (MRPS26), nuclear gene encoding mitochondrial protein, mRNA.	95					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						GAGCGCAAGGCCCTGAAGGAC	0.716													-	3027090	C	-	3027090	7	5	206	1	0	1	0	1	0	0	0	0	9837	739	26	0	290	0	MRPS26	20	3027090	Frame_Shift_Del	DEL	C	TCGA-28-2513-01A-01D-1494-08		3027090	59998430	79	14215											
SNX21	90203	broad.mit.edu	37	20	44469563	44469563	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:44469563C>T	uc002xpv.1	+	3	822	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	SNX21_uc002xpt.1_3'UTR|SNX21_uc002xps.1_Intron|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R56W|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R56W|SNX21_uc002xpz.1_Missense_Mutation_p.R56W	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	245	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCCGGAGCTGCGGCGGGCACA	0.662													T	44469563	C	T	44469563	3	4	206	1	0	0	0	0	1	0	0	0	14893	759	27	1	762	1	SNX21	20	44469563	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	41442473	44469563	18555957	80	14216											
PREX1	57580	broad.mit.edu	37	20	47276521	47276521	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:47276521C>T	uc002xtw.1	-	15	1840	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	606					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			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)			TTTGTTCTTGCTGCTGGTCCC	0.562													T	47276521	C	T	47276521	3	4	206	1	0	0	0	0	1	0	0	0	12476	797	28	3	3262	3	PREX1	20	47276521	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	2806958	47276521	15748999	81	14217											
TBC1D22A	25771	broad.mit.edu	37	22	47507479	47507479	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr22:47507479C>G	uc003bib.3	+	11	1571	c.1405C>G	c.(1405-1407)Cta>Gta	p.L469V	TBC1D22A_uc010haf.3_Missense_Mutation_p.L439V|TBC1D22A_uc003bie.3_Missense_Mutation_p.L391V|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.L422V	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	469						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GAAGGAAATACTAGAAGAAAA	0.368													G	47507479	C	G	47507479	3	3	206	1	0	0	0	0	1	0	0	0	15608	564	20	5	1451	5	TBC1D22A	22	47507479	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		47507479	3797087	82	14218											
POLA1	5422	broad.mit.edu	37	X	24766501	24766501	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:24766501G>A	uc004dbl.3	+	24	2762	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	916					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	p.R916Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	AGAGAGATCCGGAAACTGGTA	0.398													A	24766501	G	A	24766501	3	1	206	1	0	0	0	0	1	0	0	0	12187	1116	39	2	2845	2	POLA1	23	24766501	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		24766501	130504059	83	14219											
MAGEB2	4113	broad.mit.edu	37	X	30236767	30236767	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:30236767G>T	uc022buf.1	+	0	70	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C	MAGEB2_uc004dbz.3_Missense_Mutation_p.G24C	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	24							protein binding	p.R23W(1)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGAGACCCGGGGTCTCAATGT	0.577													T	30236767	G	T	30236767	3	4	206	1	0	0	0	0	1	0	0	0	9176	1232	43	5	72	5	MAGEB2	23	30236767	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	5470266	30236767	125033793	84	14220											
MAGEB4	4115	broad.mit.edu	37	X	30260607	30260607	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:30260607T>A	uc004dcb.3	+	0	551	c.355T>A	c.(355-357)Ttc>Atc	p.F119I	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	119	MAGE.							p.Q118K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GTTAGTGCAGTTCCTGCTGTA	0.443													A	30260607	T	A	30260607	3	1	206	1	0	0	0	0	1	0	0	0	9178	1725	60	5	357	5	MAGEB4	23	30260607	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	23840	30260607	125009953	85	14221											
DMD	1756	broad.mit.edu	37	X	32404521	32404521	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:32404521C>T	uc004dda.1	-	32	4824	c.4580G>A	c.(4579-4581)cGt>cAt	p.R1527H	DMD_uc004dcw.2_Missense_Mutation_p.R183H|DMD_uc004dcx.2_Missense_Mutation_p.R186H|DMD_uc004dcz.2_Missense_Mutation_p.R1404H|DMD_uc004dcy.1_Missense_Mutation_p.R1523H|DMD_uc004ddb.1_Missense_Mutation_p.R1519H|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1527	Interaction with SYNM (By similarity).				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			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)				TACAATCTGACGTCCAGTCTT	0.353													T	32404521	C	T	32404521	3	4	206	1	0	0	0	0	1	0	0	0	4580	536	19	1	6813	1	DMD	23	32404521	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	2143914	32404521	122866039	86	14222											
OTC	5009	broad.mit.edu	37	X	38260580	38260580	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:38260580G>A	uc004def.4	+	4	653	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	147					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TAAACAATCAGATTTGGACAC	0.408													A	38260580	G	A	38260580	3	1	206	1	0	0	0	0	1	0	0	0	11301	942	33	3	457	3	OTC	23	38260580	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	5856059	38260580	117009980	87	14223											
MAGED1	9500	broad.mit.edu	37	X	51640084	51640084	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:51640084T>A	uc004dpn.3	+	4	1691	c.1501T>A	c.(1501-1503)Tcg>Acg	p.S501T	MAGED1_uc004dpm.3_Missense_Mutation_p.S445T|MAGED1_uc004dpo.3_Missense_Mutation_p.S445T	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	445	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	p.S501S(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTGCGCCCCTCGCCTAACCT	0.602										Multiple Myeloma(10;0.10)			A	51640084	T	A	51640084	3	1	206	1	0	0	0	0	1	0	0	0	9183	1551	54	5	1515	5	MAGED1	23	51640084	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	13379504	51640084	103630476	88	14224											
CDX4	1046	broad.mit.edu	37	X	72667161	72667161	+	Silent	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:72667161C>T	uc011mqk.2	+	0	72	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	24						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTGGGGGCGACGGCACAGCTG	0.612													T	72667161	C	T	72667161	2	4	206	1	0	0	0	0	0	0	0	1	3184	535	19	1		1	CDX4	23	72667161	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	21027077	72667161	82603399	89	14225											
PCDH19	57526	broad.mit.edu	37	X	99662512	99662512	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:99662512C>T	uc010nmz.3	-	0	2760	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T	PCDH19_uc004efw.4_Missense_Mutation_p.A362T|PCDH19_uc004efx.4_Missense_Mutation_p.A362T	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	362	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCCGGGGGGGCGCTCTCGCTG	0.607													T	99662512	C	T	99662512	3	4	206	1	0	0	0	0	1	0	0	0	11514	768	27	1	2386	1	PCDH19	23	99662512	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	26995351	99662512	55608048	90	14226											
DDX26B	203522	broad.mit.edu	37	X	134681139	134681139	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:134681139G>A	uc004eyw.4	+	5	1054	c.691G>A	c.(691-693)Gta>Ata	p.V231I		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	231										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTGGTGTAGTTATTAA	0.338													A	134681139	G	A	134681139	3	1	206	1	0	0	0	0	1	0	0	0	4353	1377	48	3	713	3	DDX26B	23	134681139	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	35018627	134681139	20589421	91	14227											
CSAG1	158511	broad.mit.edu	37	X	151908921	151908921	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:151908921C>A	uc004fge.3	+	3	488	c.160C>A	c.(160-162)Cca>Aca	p.P54T	CSAG1_uc004fgf.3_Missense_Mutation_p.P54T|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	54										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATCAACACCAAAGAGGCG	0.557													A	151908921	C	A	151908921	3	1	206	1	0	0	0	0	1	0	0	0	3926	507	18	5	166	5	CSAG1	23	151908921	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	17227782	151908921	3361639	92	14228											
G6PD	2539	broad.mit.edu	37	X	153760436	153760436	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:153760436T>C	uc004fly.1	-	11	1537	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	G6PD_uc004flx.1_Missense_Mutation_p.E505G	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	475					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGGGCTTCTCCAGCTCAAT	0.627													C	153760436	T	C	153760436	3	2	206	1	0	0	0	0	1	0	0	0	6146	1551	54	4	131	4	G6PD	23	153760436	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	1851515	153760436	1510124	93	14229											
PLCH2	9651	broad.mit.edu	37	1	2411398	2411398	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:2411398G>A	uc001aji.1	+	2	771	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	166					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTGGCTCGCCGCCAGCGCACC	0.687													A	2411398	G	A	2411398	3	1	207	1	0	0	0	0	1	0	0	0	12038	1087	38	1	507	1	PLCH2	1	2411398	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		2411398	246839223	1	14230											
PTPN22	26191	broad.mit.edu	37	1	114399229	114399229	+	Missense_Mutation	SNP	G	G	A	rs115552198	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:114399229G>A	uc001eds.3	-	5	551	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LOC100287722_uc001edv.1_5'Flank|PTPN22_uc021orx.1_Missense_Mutation_p.R141C|PTPN22_uc009wgq.3_Missense_Mutation_p.R141C|PTPN22_uc021ory.1_Intron|PTPN22_uc010owo.2_Intron|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.R141C|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.R141C	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	141	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCAGTAGCGCTCACACTTT	0.438													A	114399229	G	A	114399229	3	1	207	1	0	0	0	0	1	0	0	0	12787	1087	38	1	2089	1	PTPN22	1	114399229	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	111987831	114399229	134851392	2	14231											
DYSF	8291	broad.mit.edu	37	2	71801344	71801344	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:71801344C>T	uc010fen.3	+	29	3386	c.3245C>T	c.(3244-3246)gCg>gTg	p.A1082V	DYSF_uc010fei.3_Missense_Mutation_p.A1081V|DYSF_uc010feh.3_Missense_Mutation_p.A1050V|DYSF_uc002sig.4_Missense_Mutation_p.A1050V|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.A1095V|DYSF_uc010fee.3_Missense_Mutation_p.A1064V|DYSF_uc010fef.3_Missense_Mutation_p.A1081V|DYSF_uc002sie.3_Missense_Mutation_p.A1064V|DYSF_uc010feo.3_Missense_Mutation_p.A1096V|DYSF_uc010fej.3_Missense_Mutation_p.A1051V|DYSF_uc010fel.3_Missense_Mutation_p.A1051V|DYSF_uc010fem.3_Missense_Mutation_p.A1065V|DYSF_uc002sif.3_Missense_Mutation_p.A1065V|DYSF_uc010fek.3_Missense_Mutation_p.A1082V|DYSF_uc010yqy.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1064	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGGCGGAGGCGGAGGGCGAG	0.662													T	71801344	C	T	71801344	3	4	207	1	0	0	0	0	1	0	0	0	4859	768	27	1	3501	1	DYSF	2	71801344	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		71801344	171398029	3	14232											
SLC9A4	389015	broad.mit.edu	37	2	103095611	103095611	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:103095611C>T	uc002tbz.4	+	1	1027	c.570C>T	c.(568-570)gaC>gaT	p.D190D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	190					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.D190D(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCTGGGCGACGTCAACCTGC	0.632													T	103095611	C	T	103095611	2	4	207	1	0	0	0	0	0	0	0	1	14716	535	19	1		1	SLC9A4	2	103095611	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	31294267	103095611	140103762	4	14233											
DPP10	57628	broad.mit.edu	37	2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:116447456G>A	uc002tle.3	+	6	568	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	DPP10_uc002tla.2_Missense_Mutation_p.V179I|DPP10_uc002tlb.2_Missense_Mutation_p.V129I|DPP10_uc002tlc.2_Missense_Mutation_p.V175I|DPP10_uc002tlf.2_Missense_Mutation_p.V172I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	179					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438													A	116447456	G	A	116447456	3	1	207	1	0	0	0	0	1	0	0	0	4727	1145	40	1	732	1	DPP10	2	116447456	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	13351845	116447456	126751917	5	14234											
ABCB11	8647	broad.mit.edu	37	2	169850255	169850255	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:169850255G>C	uc002ueo.1	-	7	875	c.749C>G	c.(748-750)cCt>cGt	p.P250R		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	250	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCCAATGAGAGGGCTGACAGA	0.453													C	169850255	G	C	169850255	3	2	207	1	0	0	0	0	1	0	0	0	42	1000	35	5	3300	5	ABCB11	2	169850255	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	53402799	169850255	73349118	6	14235											
FBLN2	2199	broad.mit.edu	37	3	13670777	13670777	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:13670777G>A	uc011avc.2	+	12	3209	c.2827G>A	c.(2827-2829)Ggc>Agc	p.G943S	FBLN2_uc011auz.2_Missense_Mutation_p.G922S|FBLN2_uc011avb.2_Missense_Mutation_p.G896S|FBLN2_uc011ava.2_Missense_Mutation_p.G943S	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	938	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGATGCCTTTGGCCGGGGCTG	0.662													A	13670777	G	A	13670777	3	1	207	1	0	0	0	0	1	0	0	0	5699	1348	47	3	1563	3	FBLN2	3	13670777	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		13670777	184351653	7	14236											
TRAT1	50852	broad.mit.edu	37	3	108549621	108549621	+	Nonsense_Mutation	SNP	C	C	T	rs148894492		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:108549621C>T	uc003dxi.1	+	1	256	c.112C>T	c.(112-114)Cga>Tga	p.R38*	TRAT1_uc010hpx.1_Intron	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	38					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.R38Q(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAAGCAACGACAAGGTAA	0.418													T	108549621	C	T	108549621	4	4	207	1	0	0	0	0	0	1	0	0	16463	528	19	1	118	1	TRAT1	3	108549621	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	94878844	108549621	89472809	8	14237											
IFT80	57560	broad.mit.edu	37	3	160083930	160083930	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:160083930C>T	uc021xgr.1	-	4	496	c.450G>A	c.(448-450)gtG>gtA	p.V150V	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Silent_p.V13V|IFT80_uc021xgq.1_Silent_p.V148V|IFT80_uc003fde.2_Silent_p.V13V|IFT80_uc003fdd.2_Intron	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	150						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTACTGAATACACTGGTGTTC	0.353													T	160083930	C	T	160083930	2	4	207	1	0	0	0	0	0	0	0	1	7564	465	17	3		3	IFT80	3	160083930	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	51534309	160083930	37938500	9	14238											
RBM47	54502	broad.mit.edu	37	4	40440481	40440481	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:40440481C>T	uc003gvc.2	-	3	1140	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	RBM47_uc003gvd.2_Missense_Mutation_p.V144M|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.V106M|RBM47_uc003gvg.1_Missense_Mutation_p.V144M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	144	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTGCAGCACACGCCGAGCAGG	0.637													T	40440481	C	T	40440481	3	4	207	1	0	0	0	0	1	0	0	0	13141	536	19	1	1367	1	RBM47	4	40440481	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		40440481	150713795	10	14239											
LRRC66	339977	broad.mit.edu	37	4	52869513	52869513	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:52869513T>C	uc003gzi.3	-	1	549	c.542A>G	c.(541-543)aAt>aGt	p.N181S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	181						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAATATCCCATTGAATGACAG	0.383													C	52869513	T	C	52869513	3	2	207	1	0	0	0	0	1	0	0	0	9018	1493	52	4	2112	4	LRRC66	4	52869513	Missense_Mutation	SNP	T	TCGA-28-2514-01A-02D-1494-08	12429032	52869513	138284763	11	14240											
SULT1B1	27284	broad.mit.edu	37	4	70596318	70596318	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:70596318G>A	uc003hen.3	-	6	977	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	227					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATGAGGTGTGATGGATGATC	0.378													A	70596318	G	A	70596318	3	1	207	1	0	0	0	0	1	0	0	0	15373	1290	45	3	219	3	SULT1B1	4	70596318	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	17726805	70596318	120557958	12	14241											
C4orf40	401137	broad.mit.edu	37	4	71021774	71021774	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:71021774C>T	uc003hfa.4	+	2	128	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	C4orf40_uc003hfb.4_Missense_Mutation_p.R19W	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	19						extracellular region		p.R19W(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATTTTAGAGACGGTTCCCCTT	0.259													T	71021774	C	T	71021774	3	4	207	1	0	0	0	0	1	0	0	0	2269	527	19	1	61	1	C4orf40	4	71021774	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	425456	71021774	120132502	13	14242											
AFM	173	broad.mit.edu	37	4	74365901	74365901	+	Missense_Mutation	SNP	A	A	C	rs149561663		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:74365901A>C	uc003hhb.3	+	11	1634	c.1603A>C	c.(1603-1605)Atg>Ctg	p.M535L		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	535	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCACGCAGACATGTGTCAATC	0.393													C	74365901	A	C	74365901	3	2	207	1	0	0	0	0	1	0	0	0	361	217	8	5	1649	5	AFM	4	74365901	Missense_Mutation	SNP	A	TCGA-28-2514-01A-02D-1494-08	3344127	74365901	116788375	14	14243											
AGXT2L1	64850	broad.mit.edu	37	4	109667553	109667553	+	Splice_Site	SNP	A	A	G			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:109667553A>G	uc003hzc.3	-	11	1484	c.1303_splice	c.e11+1	p.V435_splice	AGXT2L1_uc010imc.3_Splice_Site_p.V429_splice|AGXT2L1_uc011cfm.2_Splice_Site_p.V395_splice|AGXT2L1_uc011cfn.2_Splice_Site_p.V362_splice|AGXT2L1_uc011cfo.2_Splice_Site_p.V377_splice	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	435					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CCATGGACCCACCTGTTAGAA	0.413													G	109667553	A	G	109667553	5	3	207	1	0	0	0	0	0	0	1	0	406	173	6	4	206	4	AGXT2L1	4	109667553	Splice_Site	SNP	A	TCGA-28-2514-01A-02D-1494-08	35301652	109667553	81486723	15	14244											
SYNPO2	171024	broad.mit.edu	37	4	119948017	119948017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:119948017C>T	uc010inb.3	+	2	689	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	SYNPO2_uc010ina.3_Nonsense_Mutation_p.Q165*|SYNPO2_uc003icm.4_Nonsense_Mutation_p.Q165*|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Nonsense_Mutation_p.Q93*	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	165						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCGAGCTACCAAAGGGCTCC	0.557													T	119948017	C	T	119948017	4	4	207	1	0	0	0	0	0	1	0	0	15454	595	21	3	503	3	SYNPO2	4	119948017	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	10280464	119948017	71206259	16	14245											
CAMK4	814	broad.mit.edu	37	5	110818505	110818505	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr5:110818505A>C	uc003kpf.3	+	9	1086	c.851A>C	c.(850-852)gAt>gCt	p.D284A	CAMK4_uc010jbv.3_Missense_Mutation_p.D87A|CAMK4_uc003kpg.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	284	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTGTTTTGGATCCAAAGAAA	0.423													C	110818505	A	C	110818505	3	2	207	1	0	0	0	0	1	0	0	0	2605	333	12	5	889	5	CAMK4	5	110818505	Missense_Mutation	SNP	A	TCGA-28-2514-01A-02D-1494-08		110818505	70096755	17	14246											
PCDHB7	56129	broad.mit.edu	37	5	140553289	140553289	+	Silent	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr5:140553289G>T	uc003lit.3	+	0	1047	c.873G>T	c.(871-873)acG>acT	p.T291T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	291	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCAAAACGTTTCAAATCA	0.418													T	140553289	G	T	140553289	2	4	207	1	0	0	0	0	0	0	0	1	11547	1132	40	5		5	PCDHB7	5	140553289	Silent	SNP	G	TCGA-28-2514-01A-02D-1494-08	29734784	140553289	40361971	18	14247											
KIAA1244	57221	broad.mit.edu	37	6	138559683	138559683	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr6:138559683G>A	uc003qhu.3	+	5	629	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	153					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGTCACCAGCGTAGCATAAAC	0.453													A	138559683	G	A	138559683	3	1	207	1	0	0	0	0	1	0	0	0	8217	1145	40	1	480	1	KIAA1244	6	138559683	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		138559683	32555384	19	14248											
RNASET2	8635	broad.mit.edu	37	6	167360227	167360227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr6:167360227C>T	uc003qve.3	-	4	611	c.204_splice	c.e4-1	p.W68_splice	RNASET2_uc003qvf.3_Splice_Site|RNASET2_uc003qvi.1_Intron	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	68					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTATCGGGCCTGGAAATTC	0.348													T	167360227	C	T	167360227	4	4	207	1	0	0	0	0	0	1	0	0	13418	753	26	3	590	3	RNASET2	6	167360227	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	28800544	167360227	3754840	20	14249											
ABCA13	154664	broad.mit.edu	37	7	48443394	48443394	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:48443394C>T	uc003toq.2	+	38	12012	c.11988C>T	c.(11986-11988)acC>acT	p.T3996T	ABCA13_uc010kys.1_Silent_p.T1070T|ABCA13_uc003tos.1_Silent_p.T822T|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3996	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.R3996M(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						TGTCGAGGACCGTGGTTCTGG	0.572													T	48443394	C	T	48443394	2	4	207	1	0	0	0	0	0	0	0	1	31	639	23	2		2	ABCA13	7	48443394	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08		48443394	110695269	21	14250											
EIF4H	7458	broad.mit.edu	37	7	73601967	73601967	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:73601967G>T	uc003uad.1	+	1	94	c.86G>T	c.(85-87)gGt>gTt	p.G29V	EIF4H_uc011kfg.1_Missense_Mutation_p.G29V|EIF4H_uc003uae.1_Missense_Mutation_p.G29V	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	29					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GGTGGCCATGGTTCCCGTAGC	0.527													T	73601967	G	T	73601967	3	4	207	1	0	0	0	0	1	0	0	0	5039	1261	44	5	92	5	EIF4H	7	73601967	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	25158573	73601967	85536696	22	14251											
PILRA	29992	broad.mit.edu	37	7	99996939	99996939	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:99996939C>T	uc003uuo.1	+	4	945	c.733C>T	c.(733-735)Cca>Tca	p.P245S	PILRA_uc011kjo.2_Missense_Mutation_p.P172S|PILRA_uc003uup.1_Missense_Mutation_p.P172S|PILRA_uc003uuq.1_Silent_p.S160S	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	245					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGAGGAGCCATATGAGAA	0.502													T	99996939	C	T	99996939	3	4	207	1	0	0	0	0	1	0	0	0	11925	739	26	3	751	3	PILRA	7	99996939	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	26394972	99996939	59141724	23	14252											
GRM8	2918	broad.mit.edu	37	7	126249517	126249517	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:126249517C>T	uc003vlr.2	-	6	1704	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G465R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	465					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.G465E(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGAGCATCTCCGTTTTCATTA	0.378										HNSCC(24;0.065)			T	126249517	C	T	126249517	3	4	207	1	0	0	0	0	1	0	0	0	6803	661	23	2	1399	2	GRM8	7	126249517	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	26252578	126249517	32889146	24	14253											
IDO1	3620	broad.mit.edu	37	8	39782809	39782809	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr8:39782809T>A	uc003xnm.3	+	8	889	c.775T>A	c.(775-777)Ttt>Att	p.F259I		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	259					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CCCAAAGGAGTTTGCAGGGGG	0.507													A	39782809	T	A	39782809	3	1	207	1	0	0	0	0	1	0	0	0	7501	1725	60	5	809	5	IDO1	8	39782809	Missense_Mutation	SNP	T	TCGA-28-2514-01A-02D-1494-08		39782809	106581213	25	14254											
RAD21	5885	broad.mit.edu	37	8	117875483	117875483	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr8:117875483G>A	uc003yod.3	-	2	448	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	54					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			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)					CCTGATGTCCGTAATGCCATT	0.348													A	117875483	G	A	117875483	3	1	207	1	0	0	0	0	1	0	0	0	12981	1144	40	1	1783	1	RAD21	8	117875483	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	78092674	117875483	28488539	26	14255											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112686091	112686091	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr9:112686091C>T	uc004bei.2	+	3	526	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	PALM2-AKAP2_uc004beg.3_Silent_p.L114L|PALM2-AKAP2_uc004beh.4_Silent_p.L112L|PALM2-AKAP2_uc004bej.4_Silent_p.L112L|PALM2-AKAP2_uc004bek.4_Silent_p.L112L|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCTAGAGAAACTGAAGGAAAC	0.403													T	112686091	C	T	112686091	2	4	207	1	0	0	0	0	0	0	0	1	11410	564	20	3		3	PALM2-AKAP2	9	112686091	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08		112686091	28527340	27	14256											
SUV39H2	79723	broad.mit.edu	37	10	14938880	14938880	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr10:14938880G>T	uc021png.1	+	2	319	c.213G>T	c.(211-213)tgG>tgT	p.W71C	SUV39H2_uc001ing.3_Missense_Mutation_p.W71C|SUV39H2_uc001inh.3_Missense_Mutation_p.W11C|SUV39H2_uc001ini.3_Missense_Mutation_p.W11C|SUV39H2_uc021pnh.1_Missense_Mutation_p.W11C|SUV39H2_uc001inj.3_Missense_Mutation_p.W11C	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	71	Chromo.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GGAAAGGATGGCCAGATTCTA	0.323													T	14938880	G	T	14938880	3	4	207	1	0	0	0	0	1	0	0	0	15410	1212	42	5	35	5	SUV39H2	10	14938880	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		14938880	120595867	28	14257											
MKI67	4288	broad.mit.edu	37	10	129901939	129901947	+	In_Frame_Del	DEL	CTCTTTGTG	CTCTTTGTG	-	rs1050767	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr10:129901939_129901947delCTCTTTGTG	uc001lke.3	-	12	8352_8360	c.8157_8165delCACAAAGAG	c.(8155-8166)agcacaaagagg>agg	p.STK2719del	MKI67_uc001lkf.3_In_Frame_Del_p.STK2359del|MKI67_uc009yav.1_In_Frame_Del_p.STK2294del|MKI67_uc009yaw.1_In_Frame_Del_p.STK1869del	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2719	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAGATGCCTCTTTGTGCTTGCTGTGG	0.483													-	129901947	CTCTTTGTG	-	129901939	7	5	207	1	0	1	0	1	0	0	0	0	9598	681	24	0	1617	0	MKI67	10	129901939	In_Frame_Del	DEL	CTCTTTGTG	TCGA-28-2514-01A-02D-1494-08	114963059	129901939	5632808	29	14258											
SYTL2	54843	broad.mit.edu	37	11	85445443	85445443	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:85445443C>T	uc010rth.2	-	5	1315	c.926G>A	c.(925-927)aGa>aAa	p.R309K	SYTL2_uc010rtg.2_Missense_Mutation_p.R310K|SYTL2_uc010rti.2_Missense_Mutation_p.R309K|SYTL2_uc010rtj.2_Missense_Mutation_p.R261K|SYTL2_uc001pbf.4_Missense_Mutation_p.R309K|SYTL2_uc010rtf.2_Missense_Mutation_p.R167K	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	309					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCAGAAATTCTCTCATGGAT	0.438													T	85445443	C	T	85445443	3	4	207	1	0	0	0	0	1	0	0	0	15480	913	32	3	4411	3	SYTL2	11	85445443	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		85445443	49561073	30	14259											
PDZD3	79849	broad.mit.edu	37	11	119058000	119058000	+	Missense_Mutation	SNP	A	A	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:119058000A>T	uc001pwb.3	+	2	1074	c.550A>T	c.(550-552)Agc>Tgc	p.S184C	PDZD3_uc001pvz.3_Missense_Mutation_p.S118C|PDZD3_uc010rzd.2_Missense_Mutation_p.S105C|PDZD3_uc001pvy.3_Missense_Mutation_p.S118C|PDZD3_uc001pwa.3_5'UTR			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	184	PDZ 1.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CATCCGGGCCAGCAGCCCTCG	0.632													T	119058000	A	T	119058000	3	4	207	1	0	0	0	0	1	0	0	0	11702	188	7	5	370	5	PDZD3	11	119058000	Missense_Mutation	SNP	A	TCGA-28-2514-01A-02D-1494-08	33612557	119058000	15948516	31	14260											
PRIM1	5557	broad.mit.edu	37	12	57140741	57140741	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr12:57140741T>C	uc001smd.3	-	2	401	c.337A>G	c.(337-339)Aca>Gca	p.T113A		NM_000946	NP_000937	P49642	PRI1_HUMAN	Homo sapiens primase, DNA, polypeptide 1 (49kDa) (PRIM1), mRNA.	113					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TCATAGTCTGTCATGTCAATG	0.428													C	57140741	T	C	57140741	3	2	207	1	0	0	0	0	1	0	0	0	12490	1667	58	4	969	4	PRIM1	12	57140741	Missense_Mutation	SNP	T	TCGA-28-2514-01A-02D-1494-08		57140741	76711154	32	14261											
IL26	55801	broad.mit.edu	37	12	68619487	68619487	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr12:68619487G>C	uc001stx.1	-	0	85	c.50C>G	c.(49-51)tCt>tGt	p.S17C		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	17					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		AATGGCAAGAGACAGAGTGAC	0.478													C	68619487	G	C	68619487	3	2	207	1	0	0	0	0	1	0	0	0	7679	942	33	5	485	5	IL26	12	68619487	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	11478746	68619487	65232408	33	14262											
MIPEP	4285	broad.mit.edu	37	13	24448985	24448985	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:24448985C>T	uc001uox.4	-	5	731	c.603_splice	c.e5+1	p.K201_splice		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	201					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAAGATGTACCTTTTCTTTGT	0.333													T	24448985	C	T	24448985	2	4	207	1	0	0	0	0	0	0	0	1	9592	695	24	3		3	MIPEP	13	24448985	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08		24448985	90720893	34	14263											
ARHGEF7	8874	broad.mit.edu	37	13	111896312	111896315	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:111896312_111896315delAAGT	uc001vrs.2	+	8	1167	c.917_splice	c.e8+1	p.K306_splice	ARHGEF7_uc001vrr.2_Splice_Site_p.K285_splice|ARHGEF7_uc001vrt.2_Splice_Site_p.K256_splice|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Splice_Site_p.K128_splice|ARHGEF7_uc001vrw.4_Splice_Site_p.K128_splice|ARHGEF7_uc001vrx.4_Splice_Site_p.K128_splice|ARHGEF7_uc010tjo.2_Splice_Site_p.K203_splice|ARHGEF7_uc010tjp.1_Splice_Site_p.K50_splice|ARHGEF7_uc010agn.1_Splice_Site_p.K50_splice	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	306	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GACCAGTGAGAAGTAAGTTAGATG	0.324													-	111896315	AAGT	-	111896312	8	5	207	1	0	1	0	1	0	0	1	0	911	260	9	0	946	0	ARHGEF7	13	111896312	Splice_Site	DEL	AAGT	TCGA-28-2514-01A-02D-1494-08	87447327	111896312	3273566	35	14264											
DLK1	8788	broad.mit.edu	37	14	101200827	101200827	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr14:101200827C>T	uc001yhs.4	+	4	950	c.746C>T	c.(745-747)gCg>gTg	p.A249V	DLK1_uc001yhu.4_Intron|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	249					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.A249V(2)		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)				AAGAAGCGCGCGCTGAGCCCC	0.682													T	101200827	C	T	101200827	3	4	207	1	0	0	0	0	1	0	0	0	4564	768	27	1	764	1	DLK1	14	101200827	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		101200827	6148713	36	14265											
SIN3A	25942	broad.mit.edu	37	15	75693090	75693090	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr15:75693090C>T	uc002bai.3	-	10	1977	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	SIN3A_uc002baj.3_Missense_Mutation_p.R573Q|SIN3A_uc010uml.2_Missense_Mutation_p.R573Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	573	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			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						GAGAGGAGTCCGTCCTGTACA	0.493													T	75693090	C	T	75693090	3	4	207	1	0	0	0	0	1	0	0	0	14325	652	23	2	2147	2	SIN3A	15	75693090	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		75693090	26838302	37	14266											
PKD1	5310	broad.mit.edu	37	16	2156265	2156265	+	Silent	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:2156265G>A	uc002cos.1	-	18	7739	c.7530C>T	c.(7528-7530)taC>taT	p.Y2510Y	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.Y2510Y|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2510	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGCAGGGCGTACACCAGCG	0.687													A	2156265	G	A	2156265	2	1	207	1	0	0	0	0	0	0	0	1	11963	1140	40	1		1	PKD1	16	2156265	Silent	SNP	G	TCGA-28-2514-01A-02D-1494-08		2156265	88198488	38	14267											
CREBBP	1387	broad.mit.edu	37	16	3779062	3779062	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:3779062C>T	uc002cvv.3	-	30	6190	c.5986G>A	c.(5986-5988)Gcc>Acc	p.A1996T	CREBBP_uc002cvw.3_Missense_Mutation_p.A1958T	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1996					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTCACGGGGGCCATCTGGCTC	0.697			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						T	3779062	C	T	3779062	3	4	207	1	0	0	0	0	1	0	0	0	3861	739	26	3	1346	3	CREBBP	16	3779062	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	1622797	3779062	86575691	39	14268											
ANKS3	124401	broad.mit.edu	37	16	4755095	4755095	+	Splice_Site	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:4755095C>T	uc002cxj.2	-	8	1163	c.868_splice	c.e8+1	p.E290_splice	ANKS3_uc002cxi.2_Splice_Site_p.E217_splice|ANKS3_uc021tcj.1_Splice_Site_p.E161_splice|ANKS3_uc021tck.1_Splice_Site_p.E183_splice|ANKS3_uc002cxk.3_Splice_Site_p.E161_splice|ANKS3_uc010uxs.2_Splice_Site_p.E217_splice|ANKS3_uc002cxm.3_Splice_Site_p.E84_splice	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	290										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCCACTCACCATAGCGAGG	0.597													T	4755095	C	T	4755095	5	4	207	1	0	0	0	0	0	0	1	0	690	521	18	3	1141	3	ANKS3	16	4755095	Splice_Site	SNP	C	TCGA-28-2514-01A-02D-1494-08	976033	4755095	85599658	40	14269											
CNGB1	1258	broad.mit.edu	37	16	57918280	57918280	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:57918280C>T	uc002emt.2	-	32	3609	c.3544G>A	c.(3544-3546)Gac>Aac	p.D1182N	CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1182					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.D1182N(2)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCGGGTGGGTCGGTGGCGGCC	0.721													T	57918280	C	T	57918280	3	4	207	1	0	0	0	0	1	0	0	0	3600	884	31	2	215	2	CNGB1	16	57918280	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	53163185	57918280	32436473	41	14270											
KRT39	390792	broad.mit.edu	37	17	39116542	39116542	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr17:39116542G>A	uc002hvo.1	-	5	1244	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L	KRT39_uc010wfm.1_Missense_Mutation_p.S136L	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	403	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.S403S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTTGCCATCCGAGCTCTCCAG	0.468													A	39116542	G	A	39116542	3	1	207	1	0	0	0	0	1	0	0	0	8476	1059	37	2	275	2	KRT39	17	39116542	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		39116542	42078668	42	14271											
ONECUT2	9480	broad.mit.edu	37	18	55103358	55103358	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr18:55103358C>T	uc002lgo.3	+	0	442	c.410C>T	c.(409-411)tCg>tTg	p.S137L		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	137					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCCTGCGACTCGTCTCCGCCT	0.652													T	55103358	C	T	55103358	3	4	207	1	0	0	0	0	1	0	0	0	10869	893	31	2	412	2	ONECUT2	18	55103358	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		55103358	22973890	43	14272											
APC2	10297	broad.mit.edu	37	19	1466495	1466496	+	Frame_Shift_Ins	INS	-	-	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:1466495_1466496insT	uc002lsr.1	+	14	3403_3404	c.3195_3196insT	c.(3193-3198)ctctcgfs	p.L1065fs	APC2_uc002lss.1_Frame_Shift_Ins_p.L647fs|APC2_uc002lst.1_Frame_Shift_Ins_p.L1065fs|APC2_uc002lsu.1_Frame_Shift_Ins_p.L1064fs|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1065	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		AGGGGCCACTCTCGCTGTCCCG	0.683													T	1466496	-	T	1466495	7	5	207	1	0	1	1	0	0	0	0	0	764	900	32	0	3249	0	APC2	19	1466495	Frame_Shift_Ins	INS	-	TCGA-28-2514-01A-02D-1494-08		1466495	57662488	44	14273											
CELF5	60680	broad.mit.edu	37	19	3293345	3293345	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:3293345C>T	uc002lxm.3	+	11	1396	c.1359C>T	c.(1357-1359)agC>agT	p.S453S	CELF5_uc010dtj.2_3'UTR|CELF5_uc002lxl.2_3'UTR|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	453	RRM 3.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						ACCCGGCCAGCGCCCAGGCAG	0.622													T	3293345	C	T	3293345	2	4	207	1	0	0	0	0	0	0	0	1	3219	767	27	1		1	CELF5	19	3293345	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	1826850	3293345	55835638	45	14274											
TNFSF14	8740	broad.mit.edu	37	19	6664993	6664993	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:6664993G>A	uc002mfk.2	-	4	1049	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TNFSF14_uc002mfj.2_Missense_Mutation_p.R187C	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	223					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.R223C(2)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGAACCAGGCGTTCATCCAGC	0.612													A	6664993	G	A	6664993	3	1	207	1	0	0	0	0	1	0	0	0	16304	1145	40	1	59	1	TNFSF14	19	6664993	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	3371648	6664993	52463990	46	14275											
TNFSF14	8740	broad.mit.edu	37	19	6665273	6665273	+	Silent	SNP	G	G	A	rs147375196		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:6665273G>A	uc002mfk.2	-	4	769	c.387C>T	c.(385-387)caC>caT	p.H129H	TNFSF14_uc002mfj.2_Silent_p.H93H	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	129					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGGCCCCATCGTGGTAGCTGA	0.647													A	6665273	G	A	6665273	2	1	207	1	0	0	0	0	0	0	0	1	16304	1136	40	1		1	TNFSF14	19	6665273	Silent	SNP	G	TCGA-28-2514-01A-02D-1494-08	280	6665273	52463710	47	14276											
LRRC8E	80131	broad.mit.edu	37	19	7964176	7964176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:7964176C>T	uc002mir.3	+	2	870	c.769C>T	c.(769-771)Cga>Tga	p.R257*		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	257						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CATGTACATCCGACAGACGGT	0.532													T	7964176	C	T	7964176	4	4	207	1	0	0	0	0	0	1	0	0	9025	644	23	2	775	2	LRRC8E	19	7964176	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	1298903	7964176	51164807	48	14277											
LDLR	3949	broad.mit.edu	37	19	11221368	11221368	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:11221368C>T	uc002mqk.4	+	6	1168	c.981C>T	c.(979-981)caC>caT	p.H327H	LDLR_uc010xlk.2_Silent_p.H327H|LDLR_uc010xll.2_Silent_p.H286H|LDLR_uc021upc.1_Silent_p.H206H|LDLR_uc010xln.2_Silent_p.H200H|LDLR_uc010xlo.2_Silent_p.H159H|LDLR_uc010xlm.2_Silent_p.H180H|LDLR_uc021upd.1_Silent_p.H64H	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	327	EGF-like 1.		H -> Y (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCTGTTCCCACGTCTGCAATG	0.627													T	11221368	C	T	11221368	2	4	207	1	0	0	0	0	0	0	0	1	8704	535	19	1		1	LDLR	19	11221368	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	3257192	11221368	47907615	49	14278											
FFAR2	2867	broad.mit.edu	37	19	35941517	35941517	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:35941517C>T	uc002nzg.2	+	1	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_uc010eea.3_Missense_Mutation_p.R301C	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	301						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.R301H(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)			CCTGTTGGGACGCAGAGGCAA	0.567													T	35941517	C	T	35941517	3	4	207	1	0	0	0	0	1	0	0	0	5828	536	19	1	903	1	FFAR2	19	35941517	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	24720149	35941517	23187466	50	14279											
PSG3	440533	broad.mit.edu	37	19	43359720	43359720	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:43359720C>G	uc002oug.1	-						PSG3_uc002ouf.3_Intron|PSG3_uc002oun.3_Intron|PSG10P_uc010eip.3_Non-coding_Transcript			Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 3, mRNA.						defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTGAGCAGGACCCCCTTCCAT	0.567													G	43359720	C	G	43359720	3	3	207	1	0	0	0	0	1	0	0	0	12656	522	18	5		5	PSG3	19	43359720	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	7418203	43359720	15769263	51	14280											
KIR3DL2	3809	broad.mit.edu	37	19	55351111	55351111	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55351111C>T	uc002qhm.1	+	4	643	c.597C>T	c.(595-597)taC>taT	p.Y199Y	KIR3DL2_uc010yfj.2_Missense_Mutation_p.T193M|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.T200M|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	302	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACGCTCCCTACGAGTGGTCAA	0.562													T	55351111	C	T	55351111	2	4	207	1	0	0	0	0	0	0	0	1	8321	536	19	1		1	KIR3DL2	19	55351111	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	11991391	55351111	3777872	52	14281											
NLRP2	55655	broad.mit.edu	37	19	55495082	55495082	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55495082C>T	uc021vbq.1	+	5	2127	c.2016C>T	c.(2014-2016)gaC>gaT	p.D672D	NLRP2_uc010yfp.2_Silent_p.D649D|NLRP2_uc002qij.3_Silent_p.D672D|NLRP2_uc010esp.3_Silent_p.D650D|NLRP2_uc010esn.3_Silent_p.D648D|NLRP2_uc010eso.3_Silent_p.D669D	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	672					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGAATCAGACGCCGAGGTTG	0.507													T	55495082	C	T	55495082	2	4	207	1	0	0	0	0	0	0	0	1	10477	535	19	1		1	NLRP2	19	55495082	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	143971	55495082	3633901	53	14282											
PTPRH	5794	broad.mit.edu	37	19	55693402	55693402	+	Silent	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55693402C>T	uc002qjq.3	-	18	3253	c.3180G>A	c.(3178-3180)ccG>ccA	p.P1060P	PTPRH_uc010esv.3_Silent_p.P882P|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1060	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		GCACCATCAACGGCCGACTCT	0.637													T	55693402	C	T	55693402	2	4	207	1	0	0	0	0	0	0	0	1	12803	523	19	1		1	PTPRH	19	55693402	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	198320	55693402	3435581	54	14283											
ZNF337	26152	broad.mit.edu	37	20	25666266	25666266	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr20:25666266G>A	uc002wva.3	-	2	709	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	ZNF337_uc010ztg.2_Intron|ZNF337_uc002wvc.3_Missense_Mutation_p.R63W	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTCTAGCCGCCTGATGAGT	0.577													A	25666266	G	A	25666266	3	1	207	1	0	0	0	0	1	0	0	0	17850	1086	38	1	2076	1	ZNF337	20	25666266	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		25666266	37359254	55	14284											
STAU1	6780	broad.mit.edu	37	20	47741010	47741010	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr20:47741010C>T	uc002xud.3	-	6	1135	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	STAU1_uc002xua.3_Missense_Mutation_p.A161T|STAU1_uc002xub.3_Missense_Mutation_p.A167T|STAU1_uc002xuc.3_Missense_Mutation_p.A161T|STAU1_uc002xue.3_Missense_Mutation_p.A161T|STAU1_uc002xuf.3_Missense_Mutation_p.A167T|STAU1_uc002xug.3_Missense_Mutation_p.A242T	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	242	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	p.A242T(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCTATGGCGGCATTTTTC	0.468													T	47741010	C	T	47741010	3	4	207	1	0	0	0	0	1	0	0	0	15271	768	27	1	1041	1	STAU1	20	47741010	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	22074744	47741010	15284510	56	14285											
SERPINA7	6906	broad.mit.edu	37	X	105280734	105280734	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chrX:105280734C>T	uc010npd.3	-	0	551	c.316G>A	c.(316-318)Gta>Ata	p.V106I	SERPINA7_uc004eme.2_Missense_Mutation_p.V106I|SERPINA7_uc010npe.2_Missense_Mutation_p.V106I	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	106					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V106L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATCTCTACCATTGGAGTG	0.478													T	105280734	C	T	105280734	3	4	207	1	0	0	0	0	1	0	0	0	14094	507	18	3	947	3	SERPINA7	23	105280734	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		105280734	49989826	57	14286											
YOD1	55432	broad.mit.edu	37	1	207224090	207224090	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:207224090C>T	uc001hfe.1	-	0	333	c.286G>A	c.(286-288)Gag>Aag	p.E96K	PFKFB2_uc010psc.2_Intron|YOD1_uc001hff.1_Missense_Mutation_p.E52K	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	Homo sapiens YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) (YOD1), mRNA.	96	UBX-like.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TCCAGGCACTCGGGAGGGTAT	0.632											OREG0014189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	207224090	C	T	207224090	3	4	208	1	0	0	0	0	1	0	0	0	17485	893	31	2	768	2	YOD1	1	207224090	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		207224090	42026531	1	14287											
SLC35F3	148641	broad.mit.edu	37	1	234455909	234455909	+	Missense_Mutation	SNP	G	G	A	rs149597390		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:234455909G>A	uc001hvy.1	+	6	1358	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	SLC35F3_uc001hwa.1_Missense_Mutation_p.V336I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	336					transport	integral to membrane		p.V405I(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTTGGAATCGTCCTCAGCAT	0.393													A	234455909	G	A	234455909	3	1	208	1	0	0	0	0	1	0	0	0	14590	1145	40	1	1239	1	SLC35F3	1	234455909	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	27231819	234455909	14794712	2	14288											
OR2W5	441932	broad.mit.edu	37	1	247654793	247654793	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:247654793C>T	uc001icz.2	+	0	424	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCCATGACCGCTATGTGGC	0.587													T	247654793	C	T	247654793	3	4	208	1	0	0	0	0	1	0	0	0	11034	652	23	2	366	2	OR2W5	1	247654793	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	13198884	247654793	1595828	3	14289											
IL1A	3552	broad.mit.edu	37	2	113532647	113532647	+	Silent	SNP	C	C	T	rs3783588		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr2:113532647C>T	uc002tig.3	-	6	1773	c.813G>A	c.(811-813)gcG>gcA	p.A271A		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	271					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TCCAGACCTACGCCTGGTTTT	0.458													T	113532647	C	T	113532647	2	4	208	1	0	0	0	0	0	0	0	1	7650	523	19	1		1	IL1A	2	113532647	Silent	SNP	C	TCGA-28-5204-01A-01D-1486-08		113532647	129666726	4	14290											
TTN	7273	broad.mit.edu	37	2	179448473	179448473	+	Silent	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr2:179448473G>A	uc021vsy.1	-	260	57957	c.57732C>T	c.(57730-57732)caC>caT	p.H19244H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.H12939H|TTN_uc021vta.1_Silent_p.H12872H|TTN_uc021vtb.1_Silent_p.H12747H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20171	Fibronectin type-III 39.						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)			GGGGAATCTGGTGAGGTGCAG	0.463													A	179448473	G	A	179448473	2	1	208	1	0	0	0	0	0	0	0	1	16732	1252	44	3		3	TTN	2	179448473	Silent	SNP	G	TCGA-28-5204-01A-01D-1486-08	65915826	179448473	63750900	5	14291											
XPC	7508	broad.mit.edu	37	3	14197915	14197915	+	Silent	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:14197915C>T	uc011ave.2	-	9	2057	c.1953G>A	c.(1951-1953)cgG>cgA	p.R651R	XPC_uc011avf.2_Silent_p.R458R|XPC_uc011avg.2_Silent_p.R614R|XPC_uc021wtl.1_Silent_p.R57R|XPC_uc021wtm.1_Intron	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	651	DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGGAGATGCCGCTTCAGGG	0.532			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T	14197915	C	T	14197915	2	4	208	1	0	0	0	0	0	0	0	1	17438	726	26	3		3	XPC	3	14197915	Silent	SNP	C	TCGA-28-5204-01A-01D-1486-08		14197915	183824515	6	14292											
TMPRSS7	344805	broad.mit.edu	37	3	111769547	111769547	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:111769547A>G	uc010hqb.2	+	6	912	c.742A>G	c.(742-744)Atc>Gtc	p.I248V	TMPRSS7_uc011bhr.1_Missense_Mutation_p.I103V	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	374	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGTCAAAGACATCACTGGCTT	0.403													G	111769547	A	G	111769547	3	3	208	1	0	0	0	0	1	0	0	0	16249	217	8	4	764	4	TMPRSS7	3	111769547	Missense_Mutation	SNP	A	TCGA-28-5204-01A-01D-1486-08	97571632	111769547	86252883	7	14293											
RPL22L1	200916	broad.mit.edu	37	3	170584263	170584263	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:170584263T>C	uc003fhc.4	-	3	364	c.275A>G	c.(274-276)gAt>gGt	p.D92G	RPL22L1_uc003fhb.4_Non-coding_Transcript	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	Homo sapiens ribosomal protein L22-like 1 (RPL22L1), mRNA.	92					translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCGAAGCCAATCACGAAGATT	0.353													C	170584263	T	C	170584263	3	2	208	1	0	0	0	0	1	0	0	0	13569	1435	50	4	97	4	RPL22L1	3	170584263	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	58814716	170584263	27438167	8	14294											
HRG	3273	broad.mit.edu	37	3	186390618	186390618	+	Missense_Mutation	SNP	C	C	T	rs140916341		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:186390618C>T	uc003fqq.3	+	4	624	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	201	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTCTCTGTGCGGAACTGCCC	0.423													T	186390618	C	T	186390618	3	4	208	1	0	0	0	0	1	0	0	0	7354	759	27	1	619	1	HRG	3	186390618	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	15806355	186390618	11631812	9	14295											
CNOT6L	246175	broad.mit.edu	37	4	78665959	78665959	+	Silent	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr4:78665959G>A	uc011ccd.2	-	6	761	c.630C>T	c.(628-630)tgC>tgT	p.C210C	CNOT6L_uc003hks.3_Silent_p.C210C|CNOT6L_uc003hkt.1_Silent_p.C53C|CNOT6L_uc011cce.1_Intron	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	210					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCCAGGATGGGCAATAGCCAT	0.393													A	78665959	G	A	78665959	2	1	208	1	0	0	0	0	0	0	0	1	3623	1195	42	3		3	CNOT6L	4	78665959	Silent	SNP	G	TCGA-28-5204-01A-01D-1486-08		78665959	112488317	10	14296											
PLCXD3	345557	broad.mit.edu	37	5	41382448	41382448	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr5:41382448G>A	uc003jmm.1	-	1	394	c.292C>T	c.(292-294)Cga>Tga	p.R98*		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	98	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R98*(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGGAAATTCGAAGATCAAAA	0.443													A	41382448	G	A	41382448	4	1	208	1	0	0	0	0	0	1	0	0	12043	1066	37	2	681	2	PLCXD3	5	41382448	Nonsense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		41382448	139532812	11	14297											
ERAP2	64167	broad.mit.edu	37	5	96239220	96239220	+	Silent	SNP	T	T	C	rs115987752	by1000genomes	TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr5:96239220T>C	uc003kmq.3	+	12	2678	c.1968T>C	c.(1966-1968)ccT>ccC	p.P656P	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.P656P|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.P605P|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	656					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTCTCAGACCTAAGGACAGAG	0.418													C	96239220	T	C	96239220	2	2	208	1	0	0	0	0	0	0	0	1	5204	1509	53	4		4	ERAP2	5	96239220	Silent	SNP	T	TCGA-28-5204-01A-01D-1486-08	54856772	96239220	84676040	12	14298											
OOEP	441161	broad.mit.edu	37	6	74079407	74079407	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr6:74079407G>A	uc003pgu.4	-	0	109	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	OOEP_uc003pgv.4_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	37						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CACCAGGGCCGGATGCGAATC	0.622													A	74079407	G	A	74079407	3	1	208	1	0	0	0	0	1	0	0	0	10870	1115	39	2	352	2	OOEP	6	74079407	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		74079407	97035660	13	14299											
UST	10090	broad.mit.edu	37	6	149342488	149342488	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr6:149342488G>A	uc003qmg.3	+	6	1104	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.	270					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CCTTGAGAGAGCAAAGCTGAA	0.388													A	149342488	G	A	149342488	3	1	208	1	0	0	0	0	1	0	0	0	17090	971	34	3	834	3	UST	6	149342488	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	75263081	149342488	21772579	14	14300											
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	G	A	rs139754746		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:71571179G>A	uc003twb.4	-	3	736	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													A	71571179	G	A	71571179	2	1	208	1	0	0	0	0	0	0	0	1	2591	1078	38	1		1	CALN1	7	71571179	Silent	SNP	G	TCGA-28-5204-01A-01D-1486-08		71571179	87567484	15	14301											
GNAT3	346562	broad.mit.edu	37	7	80103615	80103615	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:80103615G>A	uc011kgu.2	-	4	542	c.542C>T	c.(541-543)aCg>aTg	p.T181M	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	181					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GATTCCAGTCGTTTTCACTCG	0.343													A	80103615	G	A	80103615	3	1	208	1	0	0	0	0	1	0	0	0	6513	1145	40	1	536	1	GNAT3	7	80103615	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	8532436	80103615	79035048	16	14302											
TRRAP	8295	broad.mit.edu	37	7	98609721	98609721	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:98609721C>T	uc003upp.3	+	71	11532	c.11323C>T	c.(11323-11325)Cgg>Tgg	p.R3775W	TRRAP_uc011kis.2_Missense_Mutation_p.R3746W|TRRAP_uc003upr.3_Missense_Mutation_p.R3481W|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3775	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AACGGTTCTCCGGGACGAGAT	0.547													T	98609721	C	T	98609721	3	4	208	1	0	0	0	0	1	0	0	0	16598	643	23	2	11514	2	TRRAP	7	98609721	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	18506106	98609721	60528942	17	14303											
GJC3	349149	broad.mit.edu	37	7	99521178	99521178	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:99521178C>G	uc011kjd.2	-	1	830	c.830G>C	c.(829-831)aGa>aCa	p.R277T		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	277						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tcaggcatctctgggtccaac	0.388													G	99521178	C	G	99521178	3	3	208	1	0	0	0	0	1	0	0	0	6416	913	32	5	13	5	GJC3	7	99521178	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	911457	99521178	59617485	18	14304											
MUC17	140453	broad.mit.edu	37	7	100684383	100684383	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:100684383T>C	uc003uxp.1	+	2	9739	c.9686T>C	c.(9685-9687)gTc>gCc	p.V3229A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3229	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					AGTGTACCTGTCAGCAACACG	0.478													C	100684383	T	C	100684383	3	2	208	1	0	0	0	0	1	0	0	0	9974	1667	58	4	9696	4	MUC17	7	100684383	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	1163205	100684383	58454280	19	14305											
ADAM2	2515	broad.mit.edu	37	8	39678526	39678526	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr8:39678526C>T	uc003xnj.3	-	5	583	c.508G>A	c.(508-510)Gta>Ata	p.V170I	ADAM2_uc003xnk.3_Missense_Mutation_p.V170I|ADAM2_uc011lck.2_Missense_Mutation_p.V170I|ADAM2_uc003xnl.3_Missense_Mutation_p.V170I	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	170				V -> A (in Ref. 2; AAD04206).	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTACCTCTACGCTTTGTAAT	0.294													T	39678526	C	T	39678526	3	4	208	1	0	0	0	0	1	0	0	0	241	536	19	1	1759	1	ADAM2	8	39678526	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		39678526	106685496	20	14306											
RORB	6096	broad.mit.edu	37	9	77249548	77249548	+	Missense_Mutation	SNP	G	G	T	rs143312543		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:77249548G>T	uc004aji.3	+	3	176	c.127_splice	c.e3-1	p.G43_splice	RORB_uc004ajh.3_Splice_Site_p.G32_splice	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	43					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.G32E(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCCTCAAGGGATTCTTTAGG	0.413													T	77249548	G	T	77249548	3	4	208	1	0	0	0	0	1	0	0	0	13529	1188	41	5	105	5	RORB	9	77249548	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		77249548	63963883	21	14307											
BICD2	23299	broad.mit.edu	37	9	95481024	95481024	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:95481024G>A	uc004asp.1	-	4	1960	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	BICD2_uc004aso.1_Missense_Mutation_p.R635C	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	635					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	p.R635H(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCTGGTCACGGATGATAGCG	0.652													A	95481024	G	A	95481024	3	1	208	1	0	0	0	0	1	0	0	0	1429	1116	39	2	686	2	BICD2	9	95481024	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	18231476	95481024	45732407	22	14308											
CYLC2	1539	broad.mit.edu	37	9	105767590	105767590	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:105767590A>C	uc004bbs.2	+	4	747	c.677A>C	c.(676-678)aAg>aCg	p.K226T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	226	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATTCAAAGAAGGGCAAGGAT	0.373													C	105767590	A	C	105767590	3	2	208	1	0	0	0	0	1	0	0	0	4142	72	3	5	695	5	CYLC2	9	105767590	Missense_Mutation	SNP	A	TCGA-28-5204-01A-01D-1486-08	10286566	105767590	35445841	23	14309											
TAF3	83860	broad.mit.edu	37	10	8007617	8007625	+	In_Frame_Del	DEL	AGAAGGAGA	AGAAGGAGA	-			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:8007617_8007625delAGAAGGAGA	uc010qbd.2	+	2	2144_2152	c.2144_2152delAGAAGGAGA	c.(2143-2154)gagaaggagaag>gag	p.KEK719del		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	719	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aaggaaaaagagaaggagaagaaggagaa	0.383													-	8007625	AGAAGGAGA	-	8007617	7	5	208	1	0	1	0	1	0	0	0	0	15522	304	11	0	2154	0	TAF3	10	8007617	In_Frame_Del	DEL	AGAAGGAGA	TCGA-28-5204-01A-01D-1486-08		8007617	127527130	24	14310											
FAM13C	220965	broad.mit.edu	37	10	61029825	61029825	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:61029825C>T	uc010qif.1	-	6	769	c.703G>A	c.(703-705)Gca>Aca	p.A235T	FAM13C_uc010qid.2_Missense_Mutation_p.A130T|FAM13C_uc001jkn.3_Missense_Mutation_p.A213T|FAM13C_uc001jko.3_Missense_Mutation_p.A213T|FAM13C_uc010qie.2_Missense_Mutation_p.A130T|FAM13C_uc001jkp.3_Missense_Mutation_p.A130T	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	213										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTTCTGGTGCACTGTCGGCC	0.532													T	61029825	C	T	61029825	3	4	208	1	0	0	0	0	1	0	0	0	5454	710	25	3	1152	3	FAM13C	10	61029825	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	53022208	61029825	74504922	25	14311											
RTKN2	219790	broad.mit.edu	37	10	63957685	63957685	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:63957685C>G	uc001jlw.3	-	11	1909	c.1812G>C	c.(1810-1812)tgG>tgC	p.W604C	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Missense_Mutation_p.W258C	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	604					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTGCCTGCAGCCATGATCTAG	0.378													G	63957685	C	G	63957685	3	3	208	1	0	0	0	0	1	0	0	0	13723	740	26	5	21	5	RTKN2	10	63957685	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	2927860	63957685	71577062	26	14312											
OR51A2	401667	broad.mit.edu	37	11	4976153	4976153	+	Missense_Mutation	SNP	C	C	T	rs61744535		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:4976153C>T	uc010qyt.2	-	0	791	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R264H(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGGCAAAGCGGTGGACAAC	0.453													T	4976153	C	T	4976153	3	4	208	1	0	0	0	0	1	0	0	0	11086	768	27	1	152	1	OR51A2	11	4976153	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		4976153	130030363	27	14313											
OR4C12	283093	broad.mit.edu	37	11	50003720	50003720	+	Silent	SNP	A	A	G			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:50003720A>G	uc010ria.2	-	0	352	c.318T>C	c.(316-318)ggT>ggC	p.G106G		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106C(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTCAGTAGCACCAAAAATGT	0.453													G	50003720	A	G	50003720	2	3	208	1	0	0	0	0	0	0	0	1	11046	146	6	4		4	OR4C12	11	50003720	Silent	SNP	A	TCGA-28-5204-01A-01D-1486-08	45027567	50003720	85002796	28	14314											
CASP1	114769	broad.mit.edu	37	11	104912141	104912141	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:104912141G>A	uc001pip.1	-	2	607	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_3'UTR	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	0					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GATAATTTATGAGTTCCAGTT	0.398													A	104912141	G	A	104912141	3	1	208	1	0	0	0	0	1	0	0	0	2668	1290	45	3		3	CASP1	11	104912141	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	54908421	104912141	30094375	29	14315											
SLC38A1	81539	broad.mit.edu	37	12	46594890	46594890	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr12:46594890T>C	uc009zkj.1	-	12	1679	c.994A>G	c.(994-996)Aca>Gca	p.T332A	SLC38A1_uc001rpb.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpc.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpd.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpe.3_Missense_Mutation_p.T332A|SLC38A1_uc010slh.2_Missense_Mutation_p.T305A|SLC38A1_uc001rpa.3_Missense_Mutation_p.T332A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	332					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATAGAATGTCAAGTAGCCA	0.294													C	46594890	T	C	46594890	3	2	208	1	0	0	0	0	1	0	0	0	14601	1667	58	4	489	4	SLC38A1	12	46594890	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08		46594890	87257005	30	14316											
TRPC4	7223	broad.mit.edu	37	13	38266163	38266163	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr13:38266163C>T	uc010abx.3	-	3	1442	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.E403K|TRPC4_uc001uws.3_Missense_Mutation_p.E403K|TRPC4_uc010tey.2_Missense_Mutation_p.E403K|TRPC4_uc010abw.3_Missense_Mutation_p.E230K|TRPC4_uc010aby.3_Missense_Mutation_p.E403K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	403					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCATCCACTCGACGATGGTT	0.438													T	38266163	C	T	38266163	3	4	208	1	0	0	0	0	1	0	0	0	16577	893	31	2	1773	2	TRPC4	13	38266163	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		38266163	76903715	31	14317											
DACH1	1602	broad.mit.edu	37	13	72053352	72053352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr13:72053352C>A	uc021rkj.1	-	7	2248	c.1825G>T	c.(1825-1827)Gaa>Taa	p.E609*	DACH1_uc021rkk.1_Nonsense_Mutation_p.E461*|DACH1_uc021rkl.1_Nonsense_Mutation_p.E407*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	659					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCCCTTAGTTCTCTTTCCCTT	0.363													A	72053352	C	A	72053352	4	1	208	1	0	0	0	0	0	1	0	0	4220	922	32	5	317	5	DACH1	13	72053352	Nonsense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	33787189	72053352	43116526	32	14318											
ACAN	176	broad.mit.edu	37	15	89400787	89400787	+	Silent	SNP	A	A	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr15:89400787A>T	uc010upo.1	+	11	5345	c.4971A>T	c.(4969-4971)ccA>ccT	p.P1657P	ACAN_uc010upp.1_Silent_p.P1657P|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1657					cell adhesion		hyaluronic acid binding|sugar binding			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)			CTGGATTCCCAACTGTTTCCC	0.537													T	89400787	A	T	89400787	2	4	208	1	0	0	0	0	0	0	0	1	117	117	5	5		5	ACAN	15	89400787	Silent	SNP	A	TCGA-28-5204-01A-01D-1486-08		89400787	13130605	33	14319											
DPEP1	1800	broad.mit.edu	37	16	89703308	89703308	+	Missense_Mutation	SNP	G	G	A	rs34815649		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr16:89703308G>A	uc010cin.3	+	5	759	c.556G>A	c.(556-558)Gag>Aag	p.E186K	DPEP1_uc002fnr.4_Missense_Mutation_p.E186K|DPEP1_uc002fns.4_Missense_Mutation_p.E186K	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	186					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGGAGACAGCGAGCCCCAGAG	0.657													A	89703308	G	A	89703308	3	1	208	1	0	0	0	0	1	0	0	0	4713	1059	37	2	574	2	DPEP1	16	89703308	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		89703308	651445	34	14320											
PIK3R5	23533	broad.mit.edu	37	17	8792501	8792501	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:8792501G>T	uc002glt.3	-	8	917	c.850C>A	c.(850-852)Cct>Act	p.P284T	PIK3R5_uc010vuz.2_Missense_Mutation_p.P284T|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	284				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGGCGACAGGGATGGGGATG	0.592													T	8792501	G	T	8792501	3	4	208	1	0	0	0	0	1	0	0	0	11922	1232	43	5	1836	5	PIK3R5	17	8792501	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		8792501	72402709	35	14321											
DBF4B	80174	broad.mit.edu	37	17	42828248	42828248	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:42828248G>A	uc002ihf.3	+	13	1688	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	492					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTGTTAAGGGCCCACTCCTC	0.592													A	42828248	G	A	42828248	3	1	208	1	0	0	0	0	1	0	0	0	4249	1203	42	3	1574	3	DBF4B	17	42828248	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	34035747	42828248	38366962	36	14322											
RGS9	8787	broad.mit.edu	37	17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:63206625C>T	uc002jfe.3	+	16	1512	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	RGS9_uc021ubw.1_Missense_Mutation_p.R434W|RGS9_uc010dem.3_Missense_Mutation_p.R434W|RGS9_uc002jfd.3_Missense_Mutation_p.R434W|RGS9_uc002jfg.3_Missense_Mutation_p.R208W	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	437					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCTTTTATGCGGCGTCACCT	0.572													T	63206625	C	T	63206625	3	4	208	1	0	0	0	0	1	0	0	0	13313	759	27	1	1375	1	RGS9	17	63206625	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	20378377	63206625	17988585	37	14323											
ABCA5	23461	broad.mit.edu	37	17	67264191	67264191	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:67264191T>A	uc002jif.2	-	21	4255	c.3037A>T	c.(3037-3039)Act>Tct	p.T1013S	ABCA5_uc002jib.2_5'UTR|ABCA5_uc002jic.2_Missense_Mutation_p.T236S|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.T1013S	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1013					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACTATATCAGTAATTTCCTGA	0.303													A	67264191	T	A	67264191	3	1	208	1	0	0	0	0	1	0	0	0	35	1638	57	5	1959	5	ABCA5	17	67264191	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	4057566	67264191	13931019	38	14324											
TNRC6C	57690	broad.mit.edu	37	17	76083173	76083173	+	Silent	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:76083173C>T	uc002jud.2	+	14	4402	c.3802_splice	c.e14+1	p.A1268_splice	TNRC6C_uc002juf.2_Splice_Site_p.A1265_splice	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1268					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTTACCCTCTCGGTGAGTGTC	0.572													T	76083173	C	T	76083173	2	4	208	1	0	0	0	0	0	0	0	1	16339	898	31	2		2	TNRC6C	17	76083173	Silent	SNP	C	TCGA-28-5204-01A-01D-1486-08	8818982	76083173	5112037	39	14325											
ZNF554	115196	broad.mit.edu	37	19	2834236	2834236	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:2834236C>T	uc002lwm.2	+	4	1201	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	ZNF554_uc002lwl.2_Missense_Mutation_p.R284W	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		GGTGTTCAACCGGAGGCATTC	0.532													T	2834236	C	T	2834236	3	4	208	1	0	0	0	0	1	0	0	0	17982	643	23	2	1021	2	ZNF554	19	2834236	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		2834236	56294747	40	14326											
LDLR	3949	broad.mit.edu	37	19	11222312	11222312	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:11222312G>A	uc002mqk.4	+	7	1370	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	LDLR_uc010xlk.2_Missense_Mutation_p.V395M|LDLR_uc010xll.2_Missense_Mutation_p.V354M|LDLR_uc021upc.1_Missense_Mutation_p.V274M|LDLR_uc010xln.2_Missense_Mutation_p.V268M|LDLR_uc010xlo.2_Missense_Mutation_p.V227M|LDLR_uc010xlm.2_Missense_Mutation_p.V248M|LDLR_uc021upd.1_Missense_Mutation_p.V132M	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	395					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CTGCAAGGCTGTGGGTGAGCA	0.632													A	11222312	G	A	11222312	3	1	208	1	0	0	0	0	1	0	0	0	8704	1377	48	3	1213	3	LDLR	19	11222312	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	8388076	11222312	47906671	41	14327											
RYR1	6261	broad.mit.edu	37	19	39008083	39008083	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:39008083C>T	uc002oit.3	+	65	9900	c.9770C>T	c.(9769-9771)gCc>gTc	p.A3257V	RYR1_uc002oiu.3_Missense_Mutation_p.A3257V|RYR1_uc002oiv.1_Missense_Mutation_p.A177V|RYR1_uc010xuf.1_Missense_Mutation_p.A177V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3257					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			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)	GGGGGGCTGGCCGAGTCAGGT	0.657													T	39008083	C	T	39008083	3	4	208	1	0	0	0	0	1	0	0	0	13768	739	26	3	10032	3	RYR1	19	39008083	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	27785771	39008083	20120900	42	14328											
ZNF235	9310	broad.mit.edu	37	19	44803797	44803797	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:44803797T>C	uc002oza.4	-	2	207	c.104A>G	c.(103-105)gAt>gGt	p.D35G	ZNF235_uc002oyx.1_Non-coding_Transcript|ZNF235_uc010eji.3_Missense_Mutation_p.D35G|ZNF235_uc002ozb.4_Missense_Mutation_p.D35G	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CAGCATCACATCTCGGTACAG	0.517													C	44803797	T	C	44803797	3	2	208	1	0	0	0	0	1	0	0	0	17785	1435	50	4	2124	4	ZNF235	19	44803797	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	5795714	44803797	14325186	43	14329											
FPR2	2358	broad.mit.edu	37	19	52272072	52272072	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:52272072G>A	uc002pxr.3	+	1	206	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR2_uc002pxs.4_Missense_Mutation_p.R54Q|FPR2_uc010epf.3_Missense_Mutation_p.R54Q|FPR2_uc021uyp.1_Missense_Mutation_p.R54Q	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	54					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTGGATTCCGGATGACACGC	0.562													A	52272072	G	A	52272072	3	1	208	1	0	0	0	0	1	0	0	0	6039	1116	39	2	163	2	FPR2	19	52272072	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	7468275	52272072	6856911	44	14330											
UBE2M	9040	broad.mit.edu	37	19	59067682	59067682	+	Splice_Site	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:59067682C>T	uc002qtl.4	-	5	1006	c.411_splice	c.e5+1	p.L137_splice	CHMP2A_uc002qti.3_5'Flank|CHMP2A_uc002qtj.3_5'Flank|CHMP2A_uc002qtk.3_5'Flank|LOC100131691_uc002qtm.3_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2M (UBE2M), mRNA.	137					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCCTACTCACCAAGAAGAGA	0.552													T	59067682	C	T	59067682	5	4	208	1	0	0	0	0	0	0	1	0	16862	521	18	3	147	3	UBE2M	19	59067682	Splice_Site	SNP	C	TCGA-28-5204-01A-01D-1486-08	6795610	59067682	61301	45	14331											
MATN4	8785	broad.mit.edu	37	20	43927050	43927050	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr20:43927050C>T	uc002xnn.2	-	6	1373	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	437	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAGGGAACTCGGTGCGCACG	0.657													T	43927050	C	T	43927050	3	4	208	1	0	0	0	0	1	0	0	0	9336	893	31	2	575	2	MATN4	20	43927050	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		43927050	19098470	46	14332											
USP25	29761	broad.mit.edu	37	21	17199405	17199405	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr21:17199405C>T	uc011aby.1	+	13	1793	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	USP25_uc002yjz.1_Missense_Mutation_p.R526W|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.R526W	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	526					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TACTCAGTCCCGGATACCTCC	0.473													T	17199405	C	T	17199405	3	4	208	1	0	0	0	0	1	0	0	0	17053	643	23	2	1630	2	USP25	21	17199405	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		17199405	30930490	47	14333											
NEFH	4744	broad.mit.edu	37	22	29886478	29886478	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr22:29886478delC	uc003afo.3	+	3	2920	c.2849delC	c.(2848-2850)gcafs	p.A950fs	KIAA0845_uc003afp.3_Frame_Shift_Del_p.Q16fs	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	956	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGAAGGAGGCAGCACCGGAG	0.512													-	29886478	C	-	29886478	7	5	208	1	0	1	0	1	0	0	0	0	10314	710	25	0	2863	0	NEFH	22	29886478	Frame_Shift_Del	DEL	C	TCGA-28-5204-01A-01D-1486-08		29886478	21418088	48	14334											
GGA1	26088	broad.mit.edu	37	22	38016358	38016366	+	In_Frame_Del	DEL	AAAGAAGCA	AAAGAAGCA	-			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr22:38016358_38016366delAAAGAAGCA	uc003atc.3	+	4	804_812	c.417_425delAAAGAAGCA	c.(415-426)ctaaagaagcag>ctg	p.KKQ140del	GGA1_uc003ate.3_In_Frame_Del_p.KKQ140del|GGA1_uc003atd.3_In_Frame_Del_p.KKQ140del|GGA1_uc003atf.3_In_Frame_Del_p.KKQ67del	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	140	Interaction with ARF3.|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACCAGATGCTAAAGAAGCAGGGTGAGGCA	0.617													-	38016366	AAAGAAGCA	-	38016358	7	5	208	1	0	1	0	1	0	0	0	0	6352	349	13	0	501	0	GGA1	22	38016358	In_Frame_Del	DEL	AAAGAAGCA	TCGA-28-5204-01A-01D-1486-08	8129880	38016358	13288208	49	14335											
KIAA2022	340533	broad.mit.edu	37	X	73961437	73961437	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chrX:73961437C>T	uc004eby.3	-	2	3572	c.2955G>A	c.(2953-2955)atG>atA	p.M985I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	985					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			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						GACCATCATCCATATTGACTG	0.448													T	73961437	C	T	73961437	3	4	208	1	0	0	0	0	1	0	0	0	8269	594	21	3	1603	3	KIAA2022	23	73961437	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		73961437	81309123	50	14336											
IRS4	8471	broad.mit.edu	37	X	107977902	107977902	+	Nonsense_Mutation	SNP	G	G	T			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chrX:107977902G>T	uc004eoc.2	-	0	1706	c.1673C>A	c.(1672-1674)tCa>tAa	p.S558*		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	558						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.G557R(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCACCACCTGAACCGTGCCC	0.657													T	107977902	G	T	107977902	4	4	208	1	0	0	0	0	0	1	0	0	7842	1294	45	5	2104	5	IRS4	23	107977902	Nonsense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	34016465	107977902	47292658	51	14337											
NOL9	79707	broad.mit.edu	37	1	6589196	6589196	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:6589196G>T	uc001ans.3	-	9	1779	c.1683C>A	c.(1681-1683)caC>caA	p.H561Q	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	561					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	p.T560I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CGACATCAGAGTGGGTAATCC	0.463													T	6589196	G	T	6589196	3	4	209	1	0	0	0	0	1	0	0	0	10528	1020	36	5	437	5	NOL9	1	6589196	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		6589196	242661425	1	14338											
MACF1	23499	broad.mit.edu	37	1	39800817	39800817	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:39800817C>T	uc021olw.1	+	0	3877	c.3877C>T	c.(3877-3879)Cgt>Tgt	p.R1293C	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2858					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			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)			CAAGGATCAACGTAAGCCAAG	0.398													T	39800817	C	T	39800817	3	4	209	1	0	0	0	0	1	0	0	0	9144	536	19	1	8648	1	MACF1	1	39800817	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	33211621	39800817	209449804	2	14339											
HYI	81888	broad.mit.edu	37	1	43917642	43917642	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:43917642T>C	uc001cjo.3	-	3	665	c.469A>G	c.(469-471)Act>Gct	p.T157A	SZT2_uc001cjk.2_3'UTR|SZT2_uc001cjl.2_3'UTR|HYI_uc021omp.1_Missense_Mutation_p.T84A|HYI_uc001cjm.3_Missense_Mutation_p.T84A|HYI_uc021omq.1_Missense_Mutation_p.T182A|HYI_uc001cjn.3_Missense_Mutation_p.T157A	NM_001190880	NP_001177809	Q5T013	HYI_HUMAN	Homo sapiens hydroxypyruvate isomerase (putative) (HYI), transcript variant 3, mRNA.	157							hydroxypyruvate isomerase activity	p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGGGTCAGTGATGCGGGTG	0.587													C	43917642	T	C	43917642	3	2	209	1	0	0	0	0	1	0	0	0	7468	1696	59	4	384	4	HYI	1	43917642	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	4116825	43917642	205332979	3	14340											
FCRL2	79368	broad.mit.edu	37	1	157740305	157740305	+	Silent	SNP	A	A	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:157740305A>T	uc001fre.2	-	2	263	c.204T>A	c.(202-204)ctT>ctA	p.L68L	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L68L|FCRL2_uc009wsp.2_Silent_p.L68L|FCRL2_uc010pia.1_Silent_p.L68L	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	68	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			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)			CACTTTGGATAAGGAAATCTG	0.338													T	157740305	A	T	157740305	2	4	209	1	0	0	0	0	0	0	0	1	5795	349	13	5		5	FCRL2	1	157740305	Silent	SNP	A	TCGA-28-5207-01A-01D-1486-08	113822663	157740305	91510316	4	14341											
ZBTB37	84614	broad.mit.edu	37	1	173840057	173840057	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:173840057C>T	uc009wwp.1	+	2	970	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	GAS5_uc001gjj.3_5'Flank|GAS5_uc001gjk.3_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.R232W|ZBTB37_uc001gjq.4_Missense_Mutation_p.R232W|ZBTB37_uc001gjr.2_Missense_Mutation_p.R232W	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	Homo sapiens zinc finger and BTB domain containing 37 (ZBTB37), transcript variant 1, mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CCGTGGGGGTCGGAGTGATGA	0.522													T	173840057	C	T	173840057	3	4	209	1	0	0	0	0	1	0	0	0	17535	875	31	2	696	2	ZBTB37	1	173840057	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	16099752	173840057	75410564	5	14342											
HMCN1	83872	broad.mit.edu	37	1	186099745	186099745	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:186099745G>A	uc001grq.1	+	84	13375	c.13146G>A	c.(13144-13146)caG>caA	p.Q4382Q	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4382	Ig-like C2-type 43.				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						CAACCATCCAGTGGAACAGAA	0.488													A	186099745	G	A	186099745	2	1	209	1	0	0	0	0	0	0	0	1	7220	1020	36	3		3	HMCN1	1	186099745	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	12259688	186099745	63150876	6	14343											
ASPM	259266	broad.mit.edu	37	1	197062332	197062332	+	Silent	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:197062332G>C	uc001gtu.3	-	20	9401	c.9144C>G	c.(9142-9144)gtC>gtG	p.V3048V	ASPM_uc001gtv.3_Silent_p.V1463V|ASPM_uc001gtw.4_Silent_p.V896V	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3048	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			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						GCCGAAGAAAGACCTGCCTTC	0.348													C	197062332	G	C	197062332	2	2	209	1	0	0	0	0	0	0	0	1	1056	929	33	5		5	ASPM	1	197062332	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	10962587	197062332	52188289	7	14344											
USH2A	7399	broad.mit.edu	37	1	216465647	216465647	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:216465647G>C	uc001hku.1	-	9	2097	c.1710C>G	c.(1708-1710)ttC>ttG	p.F570L	USH2A_uc001hkv.3_Missense_Mutation_p.F570L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	570	Laminin EGF-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GTTTACAATTGAAAGCGTAAA	0.413										HNSCC(13;0.011)			C	216465647	G	C	216465647	3	2	209	1	0	0	0	0	1	0	0	0	17033	1281	45	5	14164	5	USH2A	1	216465647	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	19403315	216465647	32784974	8	14345											
OR2T27	403239	broad.mit.edu	37	1	248814129	248814129	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:248814129G>T	uc010pzo.2	-	0	57	c.57C>A	c.(55-57)agC>agA	p.S19R		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACGGGCGTTGCTGAACAAAC	0.468													T	248814129	G	T	248814129	3	4	209	1	0	0	0	0	1	0	0	0	11021	1310	46	5	899	5	OR2T27	1	248814129	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	32348482	248814129	436492	9	14346											
SNTG2	54221	broad.mit.edu	37	2	1271233	1271233	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:1271233G>A	uc002qwq.3	+	13	1303	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	SNTG2_uc010ewi.3_Missense_Mutation_p.V265M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	392	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTTCAGCATCGTGGCCGGCCA	0.522													A	1271233	G	A	1271233	3	1	209	1	0	0	0	0	1	0	0	0	14875	1145	40	1	1228	1	SNTG2	2	1271233	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		1271233	241928140	10	14347											
STRN	6801	broad.mit.edu	37	2	37152302	37152302	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:37152302T>C	uc002rpn.3	-	1	293	c.284A>G	c.(283-285)aAg>aGg	p.K95R	STRN_uc010ezx.3_Missense_Mutation_p.K95R	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	95					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				AAGATCCTTCTTCAAATTTTC	0.368													C	37152302	T	C	37152302	3	2	209	1	0	0	0	0	1	0	0	0	15328	1609	56	4	2126	4	STRN	2	37152302	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	35881069	37152302	206047071	11	14348											
SOCS5	9655	broad.mit.edu	37	2	46987001	46987001	+	Silent	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:46987001G>T	uc021vgx.1	+	0	1332	c.1332G>T	c.(1330-1332)ccG>ccT	p.P444P	SOCS5_uc002rvf.3_Silent_p.P444P|SOCS5_uc002rvg.3_Silent_p.P444P	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	444	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCCATGACCCGTGTGTATTTC	0.443													T	46987001	G	T	46987001	2	4	209	1	0	0	0	0	0	0	0	1	14917	1132	40	5		5	SOCS5	2	46987001	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	9834699	46987001	196212372	12	14349											
IL1R1	3554	broad.mit.edu	37	2	102793083	102793083	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:102793083C>T	uc002tbq.3	+	11	1892	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	IL1R1_uc010fix.3_Missense_Mutation_p.S494F|IL1R1_uc002tbr.3_Missense_Mutation_p.S525F	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	525	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GGACCACAGTCTGCAAAGACA	0.468													T	102793083	C	T	102793083	3	4	209	1	0	0	0	0	1	0	0	0	7658	913	32	3	1612	3	IL1R1	2	102793083	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	55806082	102793083	140406290	13	14350											
LCT	3938	broad.mit.edu	37	2	136558294	136558294	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:136558294G>A	uc002tuu.1	-	11	4760	c.4749C>T	c.(4747-4749)aaC>aaT	p.N1583N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1583	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTACACATCGTTGTACAGAT	0.537													A	136558294	G	A	136558294	2	1	209	1	0	0	0	0	0	0	0	1	8693	1136	40	1		1	LCT	2	136558294	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	33765211	136558294	106641079	14	14351											
ARHGAP15	55843	broad.mit.edu	37	2	144381721	144381721	+	Silent	SNP	C	C	T	rs138120208		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:144381721C>T	uc002tvm.4	+	11	1174	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	ARHGAP15_uc002tvn.3_Silent_p.D107D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	341	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448													T	144381721	C	T	144381721	2	4	209	1	0	0	0	0	0	0	0	1	866	535	19	1		1	ARHGAP15	2	144381721	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	7823427	144381721	98817652	15	14352											
TTN	7273	broad.mit.edu	37	2	179647001	179647001	+	Silent	SNP	G	G	A	rs141768043		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:179647001G>A	uc021vsy.1	-	19	3543	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_uc021vsz.1_Silent_p.G1060G|TTN_uc021vta.1_Silent_p.G1060G|TTN_uc021vtb.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1106	Ig-like 4.						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)			TTGGGTTGCCGCCAACTTGGC	0.488													A	179647001	G	A	179647001	2	1	209	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179647001	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	35265280	179647001	63552372	16	14353											
LRIG1	26018	broad.mit.edu	37	3	66432740	66432740	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:66432740C>A	uc003dmx.3	-	15	2588	c.2574G>T	c.(2572-2574)agG>agT	p.R858S	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.R478S|LRIG1_uc003dmw.3_Missense_Mutation_p.R524S|LRIG1_uc010hnz.3_Missense_Mutation_p.R574S|LRIG1_uc010hoa.3_Missense_Mutation_p.R835S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	858						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CACCCTCGGTCCTGACCACGG	0.552													A	66432740	C	A	66432740	3	1	209	1	0	0	0	0	1	0	0	0	8944	854	30	5	723	5	LRIG1	3	66432740	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		66432740	131589690	17	14354											
STXBP5L	9515	broad.mit.edu	37	3	120957900	120957900	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:120957900C>T	uc003eec.4	+	12	1407	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	STXBP5L_uc011bji.2_Missense_Mutation_p.P423S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	423					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGATTGTCCTCCGGATTTGAT	0.308													T	120957900	C	T	120957900	3	4	209	1	0	0	0	0	1	0	0	0	15356	855	30	3	1313	3	STXBP5L	3	120957900	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	54525160	120957900	77064530	18	14355											
SLC25A36	55186	broad.mit.edu	37	3	140692641	140692641	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:140692641G>A	uc003etr.2	+	5	771	c.536G>A	c.(535-537)gGc>gAc	p.G179D	SLC25A36_uc003ets.2_Missense_Mutation_p.G179D|SLC25A36_uc003etq.2_Missense_Mutation_p.G22D|SLC25A36_uc011bmz.1_Missense_Mutation_p.G153D	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.	179					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTTTATAGGGGCATGTCTGCT	0.368													A	140692641	G	A	140692641	3	1	209	1	0	0	0	0	1	0	0	0	14500	1203	42	3	558	3	SLC25A36	3	140692641	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	19734741	140692641	57329789	19	14356											
PAQR3	152559	broad.mit.edu	37	4	79856373	79856373	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr4:79856373A>G	uc003hlp.1	-	1	454	c.250T>C	c.(250-252)Ttc>Ctc	p.F84L	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Intron|PAQR3_uc003hlq.1_Intron	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	84						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCCAGGGTGAAGAAGAGAAAG	0.368													G	79856373	A	G	79856373	3	3	209	1	0	0	0	0	1	0	0	0	11436	72	3	4	705	4	PAQR3	4	79856373	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08		79856373	111297903	20	14357											
APC	324	broad.mit.edu	37	5	112175591	112175591	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:112175591A>G	uc003kpz.4	+	16	4493	c.4300A>G	c.(4300-4302)Agc>Ggc	p.S1434G	APC_uc011cvt.2_Missense_Mutation_p.S1416G|APC_uc003kpy.4_Missense_Mutation_p.S1434G|APC_uc010jbz.3_Missense_Mutation_p.S1151G|APC_uc010jca.3_Missense_Mutation_p.S734G	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1434	Ser-rich.				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.S1434I(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.P1432fs*35(1)		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)		CATGCCACCAAGCAGAAGTAA	0.483		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)			G	112175591	A	G	112175591	3	3	209	1	0	0	0	0	1	0	0	0	763	72	3	4	4358	4	APC	5	112175591	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08		112175591	68739669	21	14358											
PCDHGC5	9708	broad.mit.edu	37	5	140773167	140773167	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:140773167A>G	uc003lkd.2	+	0	1685	c.787A>G	c.(787-789)Act>Gct	p.T263A	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.T263A|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	263	Cadherin 3.				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)			GCGGCTGCTTACTGTAACAGC	0.473													G	140773167	A	G	140773167	3	3	209	1	0	0	0	0	1	0	0	0	11571	391	14	4		4	PCDHGC5	5	140773167	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	28597576	140773167	40142093	22	14359											
SPRY4	81848	broad.mit.edu	37	5	141694230	141694230	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:141694230G>A	uc010jgi.1	-	2	754	c.513C>T	c.(511-513)gtC>gtT	p.V171V	SPRY4_uc003lml.2_Silent_p.V148V|SPRY4_uc021yet.1_Silent_p.V148V	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	148	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGGGTGGGACCGCCGGGC	0.652									Testicular Cancer, Familial Clustering of				A	141694230	G	A	141694230	2	1	209	1	0	0	0	0	0	0	0	1	15107	1161	41	3		3	SPRY4	5	141694230	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	921063	141694230	39221030	23	14360											
HLA-DOA	3111	broad.mit.edu	37	6	32974898	32974898	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:32974898G>A	uc003ocr.3	-	3	784	c.708C>T	c.(706-708)acC>acT	p.T236T	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	236					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGATGAGGACGGTGCCCACGA	0.627													A	32974898	G	A	32974898	2	1	209	1	0	0	0	0	0	0	0	1	7200	1103	39	2		2	HLA-DOA	6	32974898	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08		32974898	138140169	24	14361											
PLA2G7	7941	broad.mit.edu	37	6	46678392	46678392	+	Silent	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:46678392G>T	uc010jzf.3	-	7	936	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	PLA2G7_uc021zae.1_Silent_p.R223R|PLA2G7_uc011dwd.1_Silent_p.R178R|PLA2G7_uc011dwe.1_Silent_p.R96R	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	223					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GCTCTTTGCCGTACCTAATAT	0.323													T	46678392	G	T	46678392	2	4	209	1	0	0	0	0	0	0	0	1	12009	1144	40	5		5	PLA2G7	6	46678392	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	13703494	46678392	124436675	25	14362											
QKI	9444	broad.mit.edu	37	6	163984582	163984585	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:163984582_163984585delCAGA	uc003qui.3	+	5	1316_1319	c.765_768delCAGA	c.(763-768)atcagafs	p.I255fs	QKI_uc003quj.3_Frame_Shift_Del_p.I247fs|QKI_uc003quh.3_Frame_Shift_Del_p.I247fs|QKI_uc003que.3_Frame_Shift_Del_p.I255fs|QKI_uc003quf.3_Frame_Shift_Del_p.I255fs|QKI_uc003qug.3_Frame_Shift_Del_p.I255fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	255					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGCCTTTGATCAGACAAATACAGA	0.554													-	163984585	CAGA	-	163984582	7	5	209	1	0	1	0	1	0	0	0	0	12873	816	29	0	787	0	QKI	6	163984582	Frame_Shift_Del	DEL	CAGA	TCGA-28-5207-01A-01D-1486-08	117306190	163984582	7130485	26	14363											
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221821	G	A	55221821	3	1	209	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		55221821	103916842	27	14364											
HYAL4	23553	broad.mit.edu	37	7	123508443	123508443	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:123508443G>A	uc003vlc.3	+	2	754	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	HYAL4_uc011knz.2_Missense_Mutation_p.R39Q	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	39					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAACCTGCTCGACTTCCAATT	0.323													A	123508443	G	A	123508443	3	1	209	1	0	0	0	0	1	0	0	0	7466	1058	37	2	118	2	HYAL4	7	123508443	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	68286622	123508443	35630220	28	14365											
PLXNA4	91584	broad.mit.edu	37	7	131859666	131859666	+	Silent	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:131859666C>T	uc003vra.4	-	20	4117	c.3888G>A	c.(3886-3888)ctG>ctA	p.L1296L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1296						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCCGTCTGCAGCTCGGCAA	0.562													T	131859666	C	T	131859666	2	4	209	1	0	0	0	0	0	0	0	1	12122	697	25	3		3	PLXNA4	7	131859666	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	8351223	131859666	27278997	29	14366											
CHRM2	1129	broad.mit.edu	37	7	136700324	136700324	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:136700324G>C	uc003vtf.1	+	3	1335	c.712G>C	c.(712-714)Gga>Cga	p.G238R	CHRM2_uc003vtg.1_Missense_Mutation_p.G238R|CHRM2_uc003vti.1_Missense_Mutation_p.G238R|CHRM2_uc003vtm.1_Missense_Mutation_p.G238R|CHRM2_uc003vtj.1_Missense_Mutation_p.G238R|CHRM2_uc003vtk.1_Missense_Mutation_p.G238R|CHRM2_uc003vtl.1_Missense_Mutation_p.G238R|CHRM2_uc003vtn.1_Missense_Mutation_p.G238R|CHRM2_uc003vto.1_Missense_Mutation_p.G238R|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G238R	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	238					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCTGGTACAAGGAAGGATAGT	0.507													C	136700324	G	C	136700324	3	2	209	1	0	0	0	0	1	0	0	0	3377	1001	35	5	714	5	CHRM2	7	136700324	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	4840658	136700324	22438339	30	14367											
TNKS	8658	broad.mit.edu	37	8	9620738	9620738	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:9620738A>G	uc003wss.3	+	21	3361	c.3356A>G	c.(3355-3357)cAg>cGg	p.Q1119R	TNKS_uc011kww.2_Missense_Mutation_p.Q882R	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1119	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAGAATATCAGTCAGTGGAA	0.358													G	9620738	A	G	9620738	3	3	209	1	0	0	0	0	1	0	0	0	16316	188	7	4	3442	4	TNKS	8	9620738	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08		9620738	136743284	31	14368											
GSDMC	56169	broad.mit.edu	37	8	130762682	130762682	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:130762682T>C	uc003ysr.3	-	10	1960	c.1078A>G	c.(1078-1080)Aac>Gac	p.N360D		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	360						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTCACCATGTTCATCAGGTCC	0.468													C	130762682	T	C	130762682	3	2	209	1	0	0	0	0	1	0	0	0	6818	1783	62	4	464	4	GSDMC	8	130762682	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	121141944	130762682	15601340	32	14369											
PYCRL	65263	broad.mit.edu	37	8	144690265	144690265	+	Silent	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:144690265A>G	uc003yyy.3	-	1	189	c.159T>C	c.(157-159)agT>agC	p.S53S	PYCRL_uc011lkm.2_Silent_p.S53S|PYCRL_uc011lkn.2_Non-coding_Transcript	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase-like (PYCRL), mRNA.	41					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGTTGGTGCACTGGCCAGTA	0.532													G	144690265	A	G	144690265	2	3	209	1	0	0	0	0	0	0	0	1	12857	156	6	4		4	PYCRL	8	144690265	Silent	SNP	A	TCGA-28-5207-01A-01D-1486-08	13927583	144690265	1673757	33	14370											
MPDZ	8777	broad.mit.edu	37	9	13107002	13107002	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr9:13107002G>A	uc010mhy.3	-	44	6145	c.6088C>T	c.(6088-6090)Cgg>Tgg	p.R2030W	MPDZ_uc003zkx.4_Missense_Mutation_p.R254W|MPDZ_uc003zky.4_Missense_Mutation_p.R593W|MPDZ_uc010mib.3_Missense_Mutation_p.R764W|MPDZ_uc010mhx.3_Missense_Mutation_p.R881W|MPDZ_uc011lmm.2_Missense_Mutation_p.R918W|MPDZ_uc003zkz.4_Missense_Mutation_p.R752W|MPDZ_uc010mhz.3_Missense_Mutation_p.R2026W|MPDZ_uc011lmn.2_Missense_Mutation_p.R1997W|MPDZ_uc003zlb.4_Missense_Mutation_p.R2030W	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	2059	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCTTTTGTCCGTTTAAGGATG	0.483													A	13107002	G	A	13107002	3	1	209	1	0	0	0	0	1	0	0	0	9722	1144	40	1	41	1	MPDZ	9	13107002	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		13107002	128106429	34	14371											
ZCCHC6	79670	broad.mit.edu	37	9	88967843	88967843	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr9:88967843T>C	uc004aou.3	-	1	410	c.272A>G	c.(271-273)aAt>aGt	p.N91S	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aot.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aow.3_Missense_Mutation_p.N91S|ZCCHC6_uc010mqf.2_Missense_Mutation_p.N91S	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	91					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTGGCTGTCATTCATCCAAGC	0.438													C	88967843	T	C	88967843	3	2	209	1	0	0	0	0	1	0	0	0	17589	1493	52	4	4319	4	ZCCHC6	9	88967843	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	75860841	88967843	52245588	35	14372											
NEBL	10529	broad.mit.edu	37	10	21124444	21124444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr10:21124444C>A	uc001iqi.3	-	13	1844	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	483					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTACTAACCTCACTCGCTATC	0.423													A	21124444	C	A	21124444	4	1	209	1	0	0	0	0	0	1	0	0	10303	835	29	5	1657	5	NEBL	10	21124444	Nonsense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		21124444	114410303	36	14373											
COL17A1	1308	broad.mit.edu	37	10	105798222	105798222	+	Silent	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr10:105798222C>A	uc001kxr.3	-	44	3181	c.3012G>T	c.(3010-3012)ccG>ccT	p.P1004P		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1004	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P1004L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAGAGCCCGGAGGCCCAG	0.607													A	105798222	C	A	105798222	2	1	209	1	0	0	0	0	0	0	0	1	3674	639	23	5		5	COL17A1	10	105798222	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	84673778	105798222	29736525	37	14374											
CTSF	8722	broad.mit.edu	37	11	66334786	66334786	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:66334786G>A	uc001oip.3	-	3	628	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	180					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATCTTCACAGGCAAGTCCTGG	0.522													A	66334786	G	A	66334786	3	1	209	1	0	0	0	0	1	0	0	0	4034	1203	42	3	956	3	CTSF	11	66334786	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		66334786	68671730	38	14375											
SLCO2B1	11309	broad.mit.edu	37	11	74904384	74904384	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:74904384G>A	uc001owb.3	+	8	1592	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SLCO2B1_uc010rrq.2_Silent_p.E144E|SLCO2B1_uc010rrr.2_Silent_p.E255E|SLCO2B1_uc010rrs.2_Silent_p.E283E|SLCO2B1_uc001owc.3_Silent_p.E172E|SLCO2B1_uc001owd.3_Silent_p.E377E	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	399					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AGTTCCTGGAGCGCCAGTTTT	0.612													A	74904384	G	A	74904384	2	1	209	1	0	0	0	0	0	0	0	1	14727	962	34	3		3	SLCO2B1	11	74904384	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	8569598	74904384	60102132	39	14376											
C11orf63	79864	broad.mit.edu	37	11	122756720	122756720	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:122756720A>G	uc001pym.3	+	1	460	c.163A>G	c.(163-165)Atg>Gtg	p.M55V	C11orf63_uc001pyl.1_Missense_Mutation_p.M55V	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	55										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAAGAGATTATGTGCCATTC	0.488													G	122756720	A	G	122756720	3	3	209	1	0	0	0	0	1	0	0	0	1654	449	16	4	165	4	C11orf63	11	122756720	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	47852336	122756720	12249796	40	14377											
ATP5B	506	broad.mit.edu	37	12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr12:57033894G>A	uc001slr.3	-	7	1262	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	386					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGGCACGCGACAGTACAGT	0.512													A	57033894	G	A	57033894	3	1	209	1	0	0	0	0	1	0	0	0	1148	1059	37	2	444	2	ATP5B	12	57033894	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		57033894	76818001	41	14378											
MARS	4141	broad.mit.edu	37	12	57883052	57883053	+	Frame_Shift_Ins	INS	-	-	T	rs11540808		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr12:57883052_57883053insT	uc001sog.3	+	2	357_358	c.203_204insT	c.(202-204)tatfs	p.Y68fs	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	68					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGGCAGATATTTTTTTTTGT	0.485													T	57883053	-	T	57883052	7	5	209	1	0	1	1	0	0	0	0	0	9316	449	16	0	213	0	MARS	12	57883052	Frame_Shift_Ins	INS	-	TCGA-28-5207-01A-01D-1486-08	849158	57883052	75968843	42	14379											
FLT1	2321	broad.mit.edu	37	13	28877307	28877307	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr13:28877307G>C	uc001usb.3	-	29	4299	c.4014C>G	c.(4012-4014)atC>atG	p.I1338M	FLT1_uc010aap.2_Missense_Mutation_p.I343M|FLT1_uc010aaq.2_Missense_Mutation_p.I463M|FLT1_uc001usa.3_Missense_Mutation_p.I556M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1338					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			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)	TCAAACTCTAGATGGGTGGGG	0.488													C	28877307	G	C	28877307	3	2	209	1	0	0	0	0	1	0	0	0	5941	932	33	5	6	5	FLT1	13	28877307	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		28877307	86292571	43	14380											
NALCN	259232	broad.mit.edu	37	13	101742235	101742235	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr13:101742235C>T	uc001vox.1	-	28	3541	c.3352G>A	c.(3352-3354)Gtg>Atg	p.V1118M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1118						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCACTTCCACCCAGCCTTTC	0.453													T	101742235	C	T	101742235	3	4	209	1	0	0	0	0	1	0	0	0	10148	507	18	3	1928	3	NALCN	13	101742235	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	72864928	101742235	13427643	44	14381											
HERC1	8925	broad.mit.edu	37	15	63970125	63970125	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr15:63970125C>T	uc002amp.3	-	36	7137	c.6989G>A	c.(6988-6990)cGc>cAc	p.R2330H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2330					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			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						CGTGGCATGGCGCCCAGTTTG	0.527													T	63970125	C	T	63970125	3	4	209	1	0	0	0	0	1	0	0	0	7057	768	27	1	7764	1	HERC1	15	63970125	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		63970125	38561267	45	14382											
LCAT	3931	broad.mit.edu	37	16	67976842	67976842	+	Missense_Mutation	SNP	C	C	T	rs28940886		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr16:67976842C>T	uc002euy.1	-	2	360	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_000229	NP_000220	P04180	LCAT_HUMAN	Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.	117			A -> T (in LCATD; dbSNP:rs28940886).		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ACACCAGGGGCGTTGGACACG	0.642													T	67976842	C	T	67976842	3	4	209	1	0	0	0	0	1	0	0	0	8658	768	27	1	989	1	LCAT	16	67976842	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		67976842	22377911	46	14383											
USP6	9098	broad.mit.edu	37	17	5037198	5037198	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:5037198G>A	uc002gau.1	+	14	2631	c.401G>A	c.(400-402)gGc>gAc	p.G134D	USP6_uc002gav.1_Missense_Mutation_p.G134D|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.G195D|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	134	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGGAGAGGGGCAAGAGGTCA	0.552			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								A	5037198	G	A	5037198	3	1	209	1	0	0	0	0	1	0	0	0	17083	1203	42	3	423	3	USP6	17	5037198	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		5037198	76158012	47	14384											
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:7577141C>A	uc002gim.2	-	7	991	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134V|TP53_uc010cnf.1_Missense_Mutation_p.G134V|TP53_uc002gii.1_Missense_Mutation_p.G134V|TP53_uc010cni.1_Missense_Mutation_p.G266V|TP53_uc010cnh.1_Missense_Mutation_p.G266V|TP53_uc002gij.2_Missense_Mutation_p.G266V|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> 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.G266E(99)|p.G266V(78)|p.G266R(45)|p.L265P(15)|p.G266*(13)|p.G266fs*79(8)|p.0?(8)|p.G262_F270delGNLLGRNSF(4)|p.G266A(4)|p.L265R(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.L265del(2)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.L265Q(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)		GCTGTTCCGTCCCAGTAGATT	0.517		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)			A	7577141	C	A	7577141	3	1	209	1	0	0	0	0	1	0	0	0	16378	855	30	5	489	5	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	2539943	7577141	73618069	48	14385											
KRT40	125115	broad.mit.edu	37	17	39135111	39135111	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:39135111G>A	uc010cxh.1	-	7	1302	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	381	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCCTCCAGCCGGGCCTTCACG	0.582													A	39135111	G	A	39135111	3	1	209	1	0	0	0	0	1	0	0	0	8478	1115	39	2	162	2	KRT40	17	39135111	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	31557970	39135111	42060099	49	14386											
SP6	80320	broad.mit.edu	37	17	45925367	45925367	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:45925367G>A	uc002imh.1	-	1	707	c.429C>T	c.(427-429)ggC>ggT	p.G143G	SP6_uc002img.1_Silent_p.G143G|SP6_uc021tzc.1_Silent_p.G143G	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCCCCGGGTGGCCAGGTGAGG	0.706													A	45925367	G	A	45925367	2	1	209	1	0	0	0	0	0	0	0	1	14968	1190	42	3		3	SP6	17	45925367	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	6790256	45925367	35269843	50	14387											
OTOP2	92736	broad.mit.edu	37	17	72926423	72926423	+	Silent	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:72926423C>T	uc010wrp.2	+	5	785	c.693C>T	c.(691-693)gcC>gcT	p.A231A		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	231						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCACGGCCGTCTGCCAGA	0.562													T	72926423	C	T	72926423	2	4	209	1	0	0	0	0	0	0	0	1	11306	639	23	2		2	OTOP2	17	72926423	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	27001056	72926423	8268787	51	14388											
PRPSAP1	5635	broad.mit.edu	37	17	74326154	74326154	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:74326154A>G	uc010wtb.1	-	5	517	c.296T>C	c.(295-297)aTt>aCt	p.I99T	PRPSAP1_uc010wta.1_Missense_Mutation_p.I202T	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	173					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTAGCTACAATGACTGCATT	0.393													G	74326154	A	G	74326154	3	3	209	1	0	0	0	0	1	0	0	0	12581	101	4	4	572	4	PRPSAP1	17	74326154	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	1399731	74326154	6869056	52	14389											
COLEC12	81035	broad.mit.edu	37	18	335090	335090	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr18:335090C>G	uc002kkm.3	-	5	1683	c.1468G>C	c.(1468-1470)Gct>Cct	p.A490P		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	490	Collagen-like 2.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	p.P489L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGGGGACCAGCTGGTCCAATT	0.677													G	335090	C	G	335090	3	3	209	1	0	0	0	0	1	0	0	0	3712	797	28	5	780	5	COLEC12	18	335090	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		335090	77742158	53	14390											
ICAM1	3383	broad.mit.edu	37	19	10394791	10394791	+	Silent	SNP	C	C	T	rs143689328	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:10394791C>T	uc002mnq.2	+	3	1039	c.720C>T	c.(718-720)gaC>gaT	p.D240D	ICAM1_uc010xle.1_Intron|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	240	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GTTCCCTGGACGGGCTGTTCC	0.637													T	10394791	C	T	10394791	2	4	209	1	0	0	0	0	0	0	0	1	7479	535	19	1		1	ICAM1	19	10394791	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08		10394791	48734192	54	14391											
SMARCA4	6597	broad.mit.edu	37	19	11132404	11132404	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:11132404C>T	uc010dxp.3	+	19	2980	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SMARCA4_uc010dxo.3_Missense_Mutation_p.R874C|SMARCA4_uc002mqf.4_Missense_Mutation_p.R874C|SMARCA4_uc002mqg.1_Missense_Mutation_p.R874C|SMARCA4_uc010dxq.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxr.3_Missense_Mutation_p.R874C|SMARCA4_uc002mqj.4_Missense_Mutation_p.R874C|SMARCA4_uc010dxs.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R94C|SMARCA4_uc002mqh.4_5'UTR|SMARCA4_uc002mqi.1_Missense_Mutation_p.R77C	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	874	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCGCAGATCCGTTGGAAGTA	0.632			"F, N, Mis"		NSCLC								T	11132404	C	T	11132404	3	4	209	1	0	0	0	0	1	0	0	0	14770	652	23	2	2690	2	SMARCA4	19	11132404	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	737613	11132404	47996579	55	14392											
ZNF625	90589	broad.mit.edu	37	19	12256527	12256527	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:12256527C>T	uc010dyo.2	-	3	877	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Missense_Mutation_p.R169Q|ZNF625_uc021upn.1_Missense_Mutation_p.R169Q	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R169Q(2)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTCATGTATTCGAAGGCTACC	0.408													T	12256527	C	T	12256527	3	4	209	1	0	0	0	0	1	0	0	0	18046	884	31	2	418	2	ZNF625	19	12256527	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	1124123	12256527	46872456	56	14393											
B3GNT3	10331	broad.mit.edu	37	19	17922705	17922705	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:17922705T>C	uc002nhl.1	+	2	1040	c.893T>C	c.(892-894)gTc>gCc	p.V298A	B3GNT3_uc010ebd.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebe.1_Missense_Mutation_p.V298A	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	298					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.D297D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ATTGATGATGTCTTCCTGGGT	0.632													C	17922705	T	C	17922705	3	2	209	1	0	0	0	0	1	0	0	0	1258	1667	58	4	899	4	B3GNT3	19	17922705	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	5666178	17922705	41206278	57	14394											
JAK3	3718	broad.mit.edu	37	19	17943330	17943330	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:17943330G>A	uc002nhn.4	-	18	2778	c.2678C>T	c.(2677-2679)cCg>cTg	p.P893L	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.P893L	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	893	Protein kinase 2.				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			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						TGGCTCACCCGGGCCATAGCT	0.542		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								A	17943330	G	A	17943330	3	1	209	1	0	0	0	0	1	0	0	0	7939	1116	39	2	720	2	JAK3	19	17943330	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	20625	17943330	41185653	58	14395											
ZNF792	126375	broad.mit.edu	37	19	35449589	35449589	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:35449589G>A	uc002nxh.1	-	3	1557	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCACTTCTGCCCGTATGAA	0.468													A	35449589	G	A	35449589	2	1	209	1	0	0	0	0	0	0	0	1	18161	1306	46	3		3	ZNF792	19	35449589	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	17506259	35449589	23679394	59	14396											
FCGBP	8857	broad.mit.edu	37	19	40360855	40360855	+	Splice_Site	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:40360855C>A	uc002omp.4	-	33	15560	c.15552_splice	c.e33+1	p.P5184_splice		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5184	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCTACTCACCGGCAAGTAT	0.577													A	40360855	C	A	40360855	5	1	209	1	0	0	0	0	0	0	1	0	5778	521	18	5	680	5	FCGBP	19	40360855	Splice_Site	SNP	C	TCGA-28-5207-01A-01D-1486-08	4911266	40360855	18768128	60	14397											
C19orf48	84798	broad.mit.edu	37	19	51301380	51301380	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:51301380C>A	uc002ptf.3	-	4	1248	c.326G>T	c.(325-327)aGa>aTa	p.R109I	C19orf48_uc002pte.3_Non-coding_Transcript|C19orf48_uc002ptg.3_Missense_Mutation_p.R109I|C19orf48_uc021uyh.1_Missense_Mutation_p.R109I	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN	Homo sapiens chromosome 19 open reading frame 48 (C19orf48), mRNA.	109										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCAGGATTCTGGCCTGCTT	0.627													A	51301380	C	A	51301380	3	1	209	1	0	0	0	0	1	0	0	0	1931	913	32	5	31	5	C19orf48	19	51301380	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	10940525	51301380	7827603	61	14398											
SIGLEC8	27181	broad.mit.edu	37	19	51960480	51960480	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:51960480G>C	uc002pwt.3	-	2	806	c.739C>G	c.(739-741)Cct>Gct	p.P247A	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.P154A	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	247	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAGTTCCAAGGAGGGTCTGGG	0.557													C	51960480	G	C	51960480	3	2	209	1	0	0	0	0	1	0	0	0	14314	1174	41	5	780	5	SIGLEC8	19	51960480	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	659100	51960480	7168503	62	14399											
ADRBK2	157	broad.mit.edu	37	22	26117315	26117315	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr22:26117315G>A	uc003abx.4	+	19	2003	c.1856G>A	c.(1855-1857)tGc>tAc	p.C619Y	ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	619	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GACAAAAAATGCATTTTGTTC	0.274													A	26117315	G	A	26117315	3	1	209	1	0	0	0	0	1	0	0	0	344	1319	46	3	1934	3	ADRBK2	22	26117315	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		26117315	25187251	63	14400											
DDX17	10521	broad.mit.edu	37	22	38883964	38883964	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr22:38883964T>C	uc003avy.4	-	11	1707	c.1604A>G	c.(1603-1605)aAa>aGa	p.K535R	DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.K535R	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	456					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTCCAGCACTTTGATAAGCTC	0.547													C	38883964	T	C	38883964	3	2	209	1	0	0	0	0	1	0	0	0	4344	1841	64	4	599	4	DDX17	22	38883964	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	12766649	38883964	12420602	64	14401											
PHF8	23133	broad.mit.edu	37	X	54037681	54037681	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:54037681C>G	uc004dsu.3	-	7	1174	c.928G>C	c.(928-930)Gcc>Ccc	p.A310P	PHF8_uc004dsv.3_Missense_Mutation_p.A140P|PHF8_uc004dst.3_Missense_Mutation_p.A274P|PHF8_uc004dsw.3_Missense_Mutation_p.A274P|PHF8_uc004dsx.3_Missense_Mutation_p.A38P|PHF8_uc004dsy.3_Missense_Mutation_p.A274P	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	310	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTCAGATTGGCATTTGTTGGG	0.448													G	54037681	C	G	54037681	3	3	209	1	0	0	0	0	1	0	0	0	11840	710	25	5	2484	5	PHF8	23	54037681	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		54037681	101232879	65	14402											
MAGEE1	57692	broad.mit.edu	37	X	75649443	75649443	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:75649443G>C	uc004ecm.2	+	0	1398	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	374	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCGCCTCTGATGGATCGGA	0.677													C	75649443	G	C	75649443	3	2	209	1	0	0	0	0	1	0	0	0	9185	1290	45	5	1122	5	MAGEE1	23	75649443	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	21611762	75649443	79621117	66	14403											
RPA4	29935	broad.mit.edu	37	X	96139742	96139742	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:96139742A>G	uc004efv.4	+	0	836	c.433A>G	c.(433-435)Att>Gtt	p.I145V	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	145					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	p.I145T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GGTATTGAAAATTCATGTCCT	0.453								Other identified genes with known or suspected DNA repair function					G	96139742	A	G	96139742	3	3	209	1	0	0	0	0	1	0	0	0	13539	101	4	4	435	4	RPA4	23	96139742	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	20490299	96139742	59130818	67	14404											
TMEM61	199964	broad.mit.edu	37	1	55457654	55457654	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:55457654G>A	uc001cyd.3	+	2	785	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	Homo sapiens transmembrane protein 61 (TMEM61), mRNA.	171						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CACCCAGCCCGCCTGGCCTCC	0.642													A	55457654	G	A	55457654	3	1	210	1	0	0	0	0	1	0	0	0	16185	1087	38	1	521	1	TMEM61	1	55457654	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		55457654	193792967	1	14405											
TTF2	8458	broad.mit.edu	37	1	117638845	117638845	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:117638845C>T	uc001egy.3	+	19	3130	c.3110C>T	c.(3109-3111)gCc>gTc	p.A1037V		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	1037	Helicase C-terminal.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGACTTATGCCACCATCGAT	0.458													T	117638845	C	T	117638845	3	4	210	1	0	0	0	0	1	0	0	0	16716	739	26	3	3188	3	TTF2	1	117638845	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	62181191	117638845	131611776	2	14406											
PI4KB	5298	broad.mit.edu	37	1	151271347	151271347	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:151271347C>T	uc001exr.3	-	9	2627	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H	PI4KB_uc001exs.3_Missense_Mutation_p.R636H|PI4KB_uc001exu.3_Missense_Mutation_p.R636H|PI4KB_uc010pcw.2_Missense_Mutation_p.R319H|PI4KB_uc001ext.3_Missense_Mutation_p.R651H	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	651	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.R663C(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CACAAAATTGCGCTGTGCACT	0.502													T	151271347	C	T	151271347	3	4	210	1	0	0	0	0	1	0	0	0	11874	768	27	1	514	1	PI4KB	1	151271347	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	33632502	151271347	97979274	3	14407											
HRNR	388697	broad.mit.edu	37	1	152188049	152188049	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:152188049T>G	uc001ezt.1	-	2	6132	c.6056A>C	c.(6055-6057)cAt>cCt	p.H2019P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2019					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGAACCATGTTGCCCATG	0.552													G	152188049	T	G	152188049	3	3	210	1	0	0	0	0	1	0	0	0	7359	1464	51	5	2500	5	HRNR	1	152188049	Missense_Mutation	SNP	T	TCGA-28-5208-01A-01D-1486-08	916702	152188049	97062572	4	14408											
LCE5A	254910	broad.mit.edu	37	1	152484251	152484251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:152484251C>T	uc021oyx.1	+	0	241	c.241C>T	c.(241-243)Cga>Tga	p.R81*	LCE5A_uc001ezy.3_Nonsense_Mutation_p.R81*|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	81	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCGACGCCGACCTCAGAG	0.677													T	152484251	C	T	152484251	4	4	210	1	0	0	0	0	0	1	0	0	8675	644	23	2	243	2	LCE5A	1	152484251	Nonsense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	296202	152484251	96766370	5	14409											
ITLN1	55600	broad.mit.edu	37	1	160851913	160851913	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:160851913G>T	uc001fxc.3	-	3	355	c.239C>A	c.(238-240)aCc>aAc	p.T80N		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	80	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGCCACCAGGGTCCAGCCGCC	0.592													T	160851913	G	T	160851913	3	4	210	1	0	0	0	0	1	0	0	0	7910	1261	44	5	722	5	ITLN1	1	160851913	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	8367662	160851913	88398708	6	14410											
WNT9A	7483	broad.mit.edu	37	1	228112065	228112065	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:228112065G>A	uc001hri.2	-	2	477	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	130					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGGCCAGCCGAGGAGATGGC	0.662													A	228112065	G	A	228112065	3	1	210	1	0	0	0	0	1	0	0	0	17395	1059	37	2	716	2	WNT9A	1	228112065	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	67260152	228112065	21138556	7	14411											
NLRP3	114548	broad.mit.edu	37	1	247587155	247587155	+	Missense_Mutation	SNP	G	G	A	rs138946894	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:247587155G>A	uc001icr.3	+	4	548	c.410G>A	c.(409-411)cGt>cAt	p.R137H	NLRP3_uc001ics.3_Missense_Mutation_p.R137H|NLRP3_uc001icu.3_Missense_Mutation_p.R137H|NLRP3_uc001icw.3_Missense_Mutation_p.R137H|NLRP3_uc001icv.3_Missense_Mutation_p.R137H|NLRP3_uc010pyw.2_Missense_Mutation_p.R135H|NLRP3_uc001ict.1_Missense_Mutation_p.R135H	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	137					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			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)			GTAGATTACCGTAAGAAGTAC	0.507													A	247587155	G	A	247587155	3	1	210	1	0	0	0	0	1	0	0	0	10478	1145	40	1	420	1	NLRP3	1	247587155	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	19475090	247587155	1663466	8	14412											
SNTG2	54221	broad.mit.edu	37	2	1168837	1168837	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:1168837G>A	uc002qwq.3	+	7	688	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	187					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.G187S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTTTGACAGCGGTTTGCATCT	0.468													A	1168837	G	A	1168837	3	1	210	1	0	0	0	0	1	0	0	0	14875	1116	39	2	589	2	SNTG2	2	1168837	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		1168837	242030536	9	14413											
ABCG5	64240	broad.mit.edu	37	2	44051252	44051252	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:44051252A>G	uc002rtn.3	-	8	1264	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A	ABCG5_uc002rtm.3_5'UTR|ABCG5_uc002rto.3_Missense_Mutation_p.V204A|ABCG5_uc002rtp.3_5'UTR	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	375					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			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTTTCTTGTCACTCTCCTGAA	0.433													G	44051252	A	G	44051252	3	3	210	1	0	0	0	0	1	0	0	0	71	159	6	4	851	4	ABCG5	2	44051252	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	42882415	44051252	199148121	10	14414											
APLF	200558	broad.mit.edu	37	2	68729870	68729870	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:68729870C>G	uc002sep.3	+	2	349	c.176C>G	c.(175-177)aCa>aGa	p.T59R	APLF_uc010fdf.2_Missense_Mutation_p.T35R	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	Homo sapiens aprataxin and PNKP like factor (APLF), mRNA.	59	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TAGATACACACAAATCCATGT	0.264													G	68729870	C	G	68729870	3	3	210	1	0	0	0	0	1	0	0	0	776	478	17	5	186	5	APLF	2	68729870	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	24678618	68729870	174469503	11	14415											
ALPPL2	251	broad.mit.edu	37	2	233274393	233274393	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:233274393C>T	uc002vss.4	+	10	1463	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	470					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGGTTCACGGCGTGCAGGAGC	0.716													T	233274393	C	T	233274393	2	4	210	1	0	0	0	0	0	0	0	1	549	755	27	1		1	ALPPL2	2	233274393	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	164544523	233274393	9924980	12	14416											
SETD2	29072	broad.mit.edu	37	3	47098909	47098909	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:47098909C>T	uc003cqv.3	-	15	6652	c.6566G>A	c.(6565-6567)cGg>cAg	p.R2189Q	SETD2_uc003cqs.3_Missense_Mutation_p.R2122Q|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2122	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACAACTTCCGGCGTTCCTC	0.423			"N, F, S, Mis"		clear cell renal carcinoma								T	47098909	C	T	47098909	3	4	210	1	0	0	0	0	1	0	0	0	14131	652	23	2	1357	2	SETD2	3	47098909	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		47098909	150923521	13	14417											
ABHD14A	25864	broad.mit.edu	37	3	52014464	52014464	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:52014464G>A	uc003dco.3	+	3	563	c.453G>A	c.(451-453)gcG>gcA	p.A151A	ABHD14B_uc003dcn.3_Intron|ACY1_uc011bea.2_Intron|ACY1_uc011beb.2_5'Flank|ACY1_uc003dcp.3_5'Flank|ACY1_uc003dcq.3_5'Flank|ACY1_uc021wzb.1_5'Flank|ACY1_uc021wzc.1_5'Flank|ACY1_uc021wzd.1_5'Flank	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	Homo sapiens abhydrolase domain containing 14A (ABHD14A), mRNA.	151						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCGGGCAGCGCTGCTGGAGC	0.652													A	52014464	G	A	52014464	2	1	210	1	0	0	0	0	0	0	0	1	79	1074	38	1		1	ABHD14A	3	52014464	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	4915555	52014464	146007966	14	14418											
CACNA2D3	55799	broad.mit.edu	37	3	55107854	55107854	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:55107854C>T	uc003dhf.3	+	36	3199	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C		NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1051						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.R1051K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GATCAGAAGGCGCCCAGAATC	0.448													T	55107854	C	T	55107854	3	4	210	1	0	0	0	0	1	0	0	0	2550	768	27	1	3297	1	CACNA2D3	3	55107854	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	3093390	55107854	142914576	15	14419											
SENP7	57337	broad.mit.edu	37	3	101136587	101136587	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:101136587C>T	uc003dut.3	-	4	443	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	SENP7_uc003duu.3_Missense_Mutation_p.R111Q|SENP7_uc003duv.3_Missense_Mutation_p.R78Q|SENP7_uc003duw.3_Intron|SENP7_uc003dux.3_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	111					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTGAATTTTCGTCCTAAATC	0.378													T	101136587	C	T	101136587	3	4	210	1	0	0	0	0	1	0	0	0	14051	884	31	2	2900	2	SENP7	3	101136587	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	46028733	101136587	96885843	16	14420											
MMRN1	22915	broad.mit.edu	37	4	90857233	90857233	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr4:90857233A>C	uc003hst.3	+	5	2473	c.2402A>C	c.(2401-2403)cAa>cCa	p.Q801P	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.Q543P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	801					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				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)		TTTGTTTTGCAAGTCGCCAAG	0.378													C	90857233	A	C	90857233	3	2	210	1	0	0	0	0	1	0	0	0	9670	130	5	5	2424	5	MMRN1	4	90857233	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08		90857233	100297043	17	14421											
PCDHAC2	56147	broad.mit.edu	37	5	140167729	140167729	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140167729G>A	uc003lhb.2	+	0	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A618A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCGGCGCGCGCATCCCGT	0.667													A	140167729	G	A	140167729	2	1	210	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140167729	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08		140167729	40747531	18	14422											
PCDHB12	56124	broad.mit.edu	37	5	140590288	140590288	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140590288G>A	uc003liz.3	+	0	1998	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	PCDHB12_uc011dak.2_Silent_p.S266S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	603	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.721													A	140590288	G	A	140590288	2	1	210	1	0	0	0	0	0	0	0	1	11537	1132	40	1		1	PCDHB12	5	140590288	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	422559	140590288	40324972	19	14423											
PCDHGC5	56111	broad.mit.edu	37	5	140736435	140736435	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140736435C>T	uc003ljq.2	+	0	1668	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.N556N	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	558	Cadherin 5.				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)			TGGACCAGAACGACAATGTCC	0.577													T	140736435	C	T	140736435	2	4	210	1	0	0	0	0	0	0	0	1	11571	535	19	1		1	PCDHGC5	5	140736435	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	146147	140736435	40178825	20	14424											
NOTCH4	4855	broad.mit.edu	37	6	32172007	32172007	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:32172007C>T	uc003obb.3	-	18	3164	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	NOTCH4_uc003oba.3_5'Flank|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1009	EGF-like 26.				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			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						TCCAGACACTCGTCCACGTCT	0.612													T	32172007	C	T	32172007	3	4	210	1	0	0	0	0	1	0	0	0	10551	893	31	2	3034	2	NOTCH4	6	32172007	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		32172007	138943060	21	14425											
QKI	9444	broad.mit.edu	37	6	163899821	163899821	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:163899821delG	uc003qui.3	+	2	846	c.295delG	c.(295-297)gttfs	p.V99fs	QKI_uc003quj.3_Frame_Shift_Del_p.V99fs|QKI_uc003quh.3_Frame_Shift_Del_p.V99fs|QKI_uc003que.3_Frame_Shift_Del_p.V99fs|QKI_uc003quf.3_Frame_Shift_Del_p.V99fs|QKI_uc003qug.3_Frame_Shift_Del_p.V99fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	99	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GTTTAATTTTGTTGGGAGAAT	0.358													-	163899821	G	-	163899821	7	5	210	1	0	1	0	1	0	0	0	0	12873	1377	48	0	305	0	QKI	6	163899821	Frame_Shift_Del	DEL	G	TCGA-28-5208-01A-01D-1486-08	131727814	163899821	7215246	22	14426											
ANLN	54443	broad.mit.edu	37	7	36459856	36459856	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:36459856A>G	uc003tff.3	+	10	2152	c.1948A>G	c.(1948-1950)Aga>Gga	p.R650G	ANLN_uc011kaz.2_Missense_Mutation_p.R562G|ANLN_uc003tfg.3_Missense_Mutation_p.R613G|ANLN_uc010kxe.3_Missense_Mutation_p.R612G	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	650	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.Q649R(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAAATTCCAAAGAACTCGTGT	0.433													G	36459856	A	G	36459856	3	3	210	1	0	0	0	0	1	0	0	0	694	64	3	4	1990	4	ANLN	7	36459856	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08		36459856	122678807	23	14427											
CACNA2D1	781	broad.mit.edu	37	7	81799924	81799924	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:81799924C>T	uc003uhr.1	-	4	551	c.295_splice	c.e4-1	p.R99_splice		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	99				R -> S (in Ref. 1; AAA51903).		voltage-gated calcium channel complex	metal ion binding			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)	CAATGCCAGGCGCTGAAAAAC	0.348													T	81799924	C	T	81799924	3	4	210	1	0	0	0	0	1	0	0	0	2548	782	27	1	3123	1	CACNA2D1	7	81799924	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	45340068	81799924	77338739	24	14428											
PCLO	27445	broad.mit.edu	37	7	82784341	82784341	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:82784341G>T	uc003uhx.2	-	1	1905	c.1616C>A	c.(1615-1617)cCc>cAc	p.P539H	PCLO_uc003uhv.2_Missense_Mutation_p.P539H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	485	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P539P(1)		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						TTGAGCTGAGGGTTTTGCTGA	0.547													T	82784341	G	T	82784341	3	4	210	1	0	0	0	0	1	0	0	0	11583	1232	43	5	13925	5	PCLO	7	82784341	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	984417	82784341	76354322	25	14429											
SAMD9L	219285	broad.mit.edu	37	7	92763758	92763758	+	Nonsense_Mutation	SNP	A	A	C			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:92763758A>C	uc003umh.1	-	4	2743	c.1527T>G	c.(1525-1527)taT>taG	p.Y509*	SAMD9L_uc003umj.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc022ahh.1_Nonsense_Mutation_p.Y509*	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	509										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTAGAGGTTTATATGTCTCGC	0.378													C	92763758	A	C	92763758	4	2	210	1	0	0	0	0	0	1	0	0	13827	456	16	5	3231	5	SAMD9L	7	92763758	Nonsense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	9979417	92763758	66374905	26	14430											
TPD52L3	89882	broad.mit.edu	37	9	6328761	6328761	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:6328761C>T	uc003zjw.3	+	0	413	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	TPD52L3_uc003zjv.3_Missense_Mutation_p.R56C|TPD52L3_uc003zjx.2_Missense_Mutation_p.R56C	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	56							protein binding	p.R56C(3)|p.R56L(1)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CAAAGAGAGACGCTGTGGGGA	0.512													T	6328761	C	T	6328761	3	4	210	1	0	0	0	0	1	0	0	0	16397	536	19	1	168	1	TPD52L3	9	6328761	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		6328761	134884670	27	14431											
TMEM215	401498	broad.mit.edu	37	9	32784670	32784670	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:32784670C>T	uc022bfh.1	+	0	489	c.489C>T	c.(487-489)gaC>gaT	p.D163D	TMEM215_uc003zri.4_Silent_p.D163D	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	163						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GATACCTGGACGGCTACTGCC	0.602													T	32784670	C	T	32784670	2	4	210	1	0	0	0	0	0	0	0	1	16135	535	19	1		1	TMEM215	9	32784670	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	26455909	32784670	108428761	28	14432											
TRPM6	140803	broad.mit.edu	37	9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:77423011C>T	uc004ajl.1	-	13	1815	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_uc004ajk.1_Missense_Mutation_p.R521H|TRPM6_uc022bib.1_Missense_Mutation_p.R521H|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R526H|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	526					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			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						GTAGTTGCTGCGATATGCTCT	0.388													T	77423011	C	T	77423011	3	4	210	1	0	0	0	0	1	0	0	0	16587	768	27	1	4595	1	TRPM6	9	77423011	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	44638341	77423011	63790420	29	14433											
FGD3	89846	broad.mit.edu	37	9	95792189	95792189	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:95792189C>T	uc004asz.2	+	14	2119	c.1591C>T	c.(1591-1593)Cgt>Tgt	p.R531C	FGD3_uc004asw.2_Missense_Mutation_p.R531C|FGD3_uc004asx.2_Missense_Mutation_p.R531C|FGD3_uc011luc.1_Missense_Mutation_p.R134C	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	531					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TAAGACCAGACGTGACAAGGA	0.537													T	95792189	C	T	95792189	3	4	210	1	0	0	0	0	1	0	0	0	5834	536	19	1	1641	1	FGD3	9	95792189	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	18369178	95792189	45421242	30	14434											
ODF3	113746	broad.mit.edu	37	11	197577	197577	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:197577G>A	uc001lob.3	+	2	420	c.126G>A	c.(124-126)acG>acA	p.T42T	ODF3_uc010qvk.2_Silent_p.T42T|ODF3_uc001loc.3_Silent_p.T42T	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	Homo sapiens outer dense fiber of sperm tails 3 (ODF3), mRNA.	42					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm		p.T42T(2)		biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGAAGCACACGCCCACCAAGC	0.652													A	197577	G	A	197577	2	1	210	1	0	0	0	0	0	0	0	1	10829	1074	38	1		1	ODF3	11	197577	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08		197577	134808939	31	14435											
APBB1	322	broad.mit.edu	37	11	6423823	6423823	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:6423823A>G	uc001mdb.1	-	6	1337	c.1237T>C	c.(1237-1239)Tct>Cct	p.S413P	APBB1_uc001mdd.3_Missense_Mutation_p.S193P|APBB1_uc001mdc.1_Missense_Mutation_p.S413P|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_Missense_Mutation_p.S34P|APBB1_uc010rae.1_Missense_Mutation_p.S178P|APBB1_uc009yey.2_Missense_Mutation_p.S154P|APBB1_uc009yfa.2_Missense_Mutation_p.S154P|APBB1_uc010rag.1_Missense_Mutation_p.S154P|APBB1_uc009yfb.2_Missense_Mutation_p.S154P|APBB1_uc001mde.2_Missense_Mutation_p.S154P|APBB1_uc010rah.1_Missense_Mutation_p.S154P	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	413	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGCCCCCAGACATGGGGTCA	0.582													G	6423823	A	G	6423823	3	3	210	1	0	0	0	0	1	0	0	0	759	275	10	4	927	4	APBB1	11	6423823	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	6226246	6423823	128582693	32	14436											
OR5D16	390144	broad.mit.edu	37	11	55606713	55606713	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:55606713G>A	uc010rio.2	+	0	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A162T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACACTCGCGTGCTCTGCTT	0.453													A	55606713	G	A	55606713	2	1	210	1	0	0	0	0	0	0	0	1	11156	1132	40	1		1	OR5D16	11	55606713	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	49182890	55606713	79399803	33	14437											
OR8H3	390152	broad.mit.edu	37	11	55890211	55890211	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:55890211T>G	uc001nii.1	+	0	363	c.363T>G	c.(361-363)gaT>gaG	p.D121E		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGCCTATGATCGCTATGCAG	0.468													G	55890211	T	G	55890211	3	3	210	1	0	0	0	0	1	0	0	0	11239	1432	50	5	365	5	OR8H3	11	55890211	Missense_Mutation	SNP	T	TCGA-28-5208-01A-01D-1486-08	283498	55890211	79116305	34	14438											
TCN1	6947	broad.mit.edu	37	11	59630133	59630133	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:59630133C>T	uc001noj.2	-	2	420	c.322G>A	c.(322-324)Gct>Act	p.A108T		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	108					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.A108S(2)		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)	TTTTCCTCAGCGTTACGACAT	0.358													T	59630133	C	T	59630133	3	4	210	1	0	0	0	0	1	0	0	0	15703	768	27	1	1007	1	TCN1	11	59630133	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	3739922	59630133	75376383	35	14439											
AHNAK	79026	broad.mit.edu	37	11	62284308	62284308	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:62284308G>A	uc001ntl.3	-	4	17881	c.17581C>T	c.(17581-17583)Cga>Tga	p.R5861*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5861					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGGACAGTCGGGACTTCTTA	0.522													A	62284308	G	A	62284308	4	1	210	1	0	0	0	0	0	1	0	0	414	1124	39	2	211	2	AHNAK	11	62284308	Nonsense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	2654175	62284308	72722208	36	14440											
TECTA	7007	broad.mit.edu	37	11	120983846	120983846	+	Silent	SNP	C	C	T	rs148364865	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:120983846C>T	uc010rzo.2	+	3	552	c.552C>T	c.(550-552)taC>taT	p.Y184Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	184	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCAATTATTACGAAATCAACT	0.567											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	120983846	C	T	120983846	2	4	210	1	0	0	0	0	0	0	0	1	15744	547	19	1		1	TECTA	11	120983846	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	58699538	120983846	14022670	37	14441											
OR4D5	219875	broad.mit.edu	37	11	123811110	123811110	+	Missense_Mutation	SNP	C	C	T	rs141929562		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:123811110C>T	uc001pzk.1	+	0	787	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGGCCTTTTCGGACATTCCC	0.512													T	123811110	C	T	123811110	3	4	210	1	0	0	0	0	1	0	0	0	11057	875	31	2	789	2	OR4D5	11	123811110	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	2827264	123811110	11195406	38	14442											
ATN1	1822	broad.mit.edu	37	12	7047759	7047759	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:7047759C>T	uc001qrw.1	+	6	2870	c.2633C>T	c.(2632-2634)cCt>cTt	p.P878L	ATN1_uc001qrx.1_Missense_Mutation_p.P878L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	878					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TACCTGGGTCCTGACACTCCA	0.632											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7047759	C	T	7047759	3	4	210	1	0	0	0	0	1	0	0	0	1111	681	24	3	2655	3	ATN1	12	7047759	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		7047759	126804136	39	14443											
SLC26A10	65012	broad.mit.edu	37	12	58014190	58014190	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:58014190G>A	uc001spe.3	+	0	498	c.187G>A	c.(187-189)Gtc>Atc	p.V63I	BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	63						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TTTCTTCCCCGTCCTCATCTA	0.537													A	58014190	G	A	58014190	3	1	210	1	0	0	0	0	1	0	0	0	14515	1145	40	1	189	1	SLC26A10	12	58014190	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	50966431	58014190	75837705	40	14444											
NOS1	4842	broad.mit.edu	37	12	117723944	117723944	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:117723944G>A	uc001twn.2	-	5	1966	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NOS1_uc021ren.1_Missense_Mutation_p.R83C|NOS1_uc021reo.1_Missense_Mutation_p.R83C|NOS1_uc001twm.2_Missense_Mutation_p.R419C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	419					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCACACAGCGCGAGGCATTC	0.557													A	117723944	G	A	117723944	3	1	210	1	0	0	0	0	1	0	0	0	10541	1087	38	1	3145	1	NOS1	12	117723944	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	59709754	117723944	16127951	41	14445											
KDM2B	84678	broad.mit.edu	37	12	121890960	121890960	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:121890960C>T	uc001uat.3	-	12	2026	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	KDM2B_uc010szy.2_Missense_Mutation_p.R81H|KDM2B_uc001uaq.3_Missense_Mutation_p.R81H|KDM2B_uc001uar.3_Missense_Mutation_p.R232H|KDM2B_uc001uas.3_Missense_Mutation_p.R610H|KDM2B_uc021rfd.1_Missense_Mutation_p.R610H|KDM2B_uc001uau.3_Missense_Mutation_p.R524H|KDM2B_uc021rfe.1_Missense_Mutation_p.R641H	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	641					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGCTTCATGCGCCCGGGGCC	0.706													T	121890960	C	T	121890960	3	4	210	1	0	0	0	0	1	0	0	0	8125	768	27	1	2184	1	KDM2B	12	121890960	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	4167016	121890960	11960935	42	14446											
KBTBD6	89890	broad.mit.edu	37	13	41705212	41705212	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr13:41705212A>G	uc001uxu.1	-	0	1725	c.1436T>C	c.(1435-1437)cTa>cCa	p.L479P	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	479							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AATTACCATTAGGTCAAAGGA	0.433													G	41705212	A	G	41705212	3	3	210	1	0	0	0	0	1	0	0	0	7997	420	15	4	592	4	KBTBD6	13	41705212	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08		41705212	73464666	43	14447											
TSHR	7253	broad.mit.edu	37	14	81610025	81610025	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr14:81610025C>T	uc001xvd.1	+	9	1779	c.1623C>T	c.(1621-1623)atC>atT	p.I541I		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	541					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGTGCCATCATGGTTGGGG	0.587			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						T	81610025	C	T	81610025	2	4	210	1	0	0	0	0	0	0	0	1	16619	816	29	3		3	TSHR	14	81610025	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08		81610025	25739515	44	14448											
ASB2	51676	broad.mit.edu	37	14	94404157	94404157	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr14:94404157G>A	uc001ycd.3	-	8	2028	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	ASB2_uc001ycb.2_Missense_Mutation_p.A199V|ASB2_uc001ycc.2_Missense_Mutation_p.A505V|ASB2_uc001yce.1_Missense_Mutation_p.A451V	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	505	SOCS box.				intracellular signal transduction			p.R553Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GATGGGCCCCGCCCAGCGGCT	0.597													A	94404157	G	A	94404157	3	1	210	1	0	0	0	0	1	0	0	0	1023	1087	38	1	257	1	ASB2	14	94404157	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	12794132	94404157	12945383	45	14449											
MGA	23269	broad.mit.edu	37	15	42058284	42058284	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:42058284C>T	uc010ucy.2	+	23	8185	c.8004C>T	c.(8002-8004)ggC>ggT	p.G2668G	MGA_uc010ucz.2_Silent_p.G2459G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2629						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATATGGGTGGCAGCAAATATC	0.393													T	42058284	C	T	42058284	2	4	210	1	0	0	0	0	0	0	0	1	9540	697	25	3		3	MGA	15	42058284	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08		42058284	60473108	46	14450											
EIF3J	8669	broad.mit.edu	37	15	44849840	44849840	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:44849840G>A	uc001ztv.3	+	5	690	c.563G>A	c.(562-564)tGt>tAt	p.C188Y	EIF3J_uc010ueg.2_Intron	NM_003758	NP_003749	O75822	EIF3J_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.	188						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CGAGATGTGTGTATTTCATGT	0.313													A	44849840	G	A	44849840	3	1	210	1	0	0	0	0	1	0	0	0	5020	1377	48	3	585	3	EIF3J	15	44849840	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	2791556	44849840	57681552	47	14451											
MORF4L1	10933	broad.mit.edu	37	15	79183885	79183885	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:79183885A>G	uc002bel.3	+	7	714	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	MORF4L1_uc010bli.1_3'UTR|MORF4L1_uc010blj.1_Missense_Mutation_p.R110G|MORF4L1_uc002bem.3_Missense_Mutation_p.R137G|MORF4L1_uc010une.2_Missense_Mutation_p.R49G	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	Homo sapiens mortality factor 4 like 1 (MORF4L1), transcript variant 2, mRNA.	176	Interaction with RB1-1.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TCGGAAGAAAAGGGCCCGGGT	0.448													G	79183885	A	G	79183885	3	3	210	1	0	0	0	0	1	0	0	0	9706	63	3	4	556	4	MORF4L1	15	79183885	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	34334045	79183885	23347507	48	14452											
GRIN2A	2903	broad.mit.edu	37	16	9943716	9943716	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr16:9943716C>T	uc010uym.2	-	5	1535	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	GRIN2A_uc002czo.4_Missense_Mutation_p.V409I|GRIN2A_uc010uyn.2_Missense_Mutation_p.V252I|GRIN2A_uc002czr.4_Missense_Mutation_p.V409I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	409					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCAGGGTGACGATGCTGAGA	0.582													T	9943716	C	T	9943716	3	4	210	1	0	0	0	0	1	0	0	0	6779	536	19	1	3205	1	GRIN2A	16	9943716	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		9943716	80411037	49	14453											
CPNE7	27132	broad.mit.edu	37	16	89649923	89649923	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr16:89649923C>T	uc002fnp.3	+	3	699	c.569C>T	c.(568-570)aCg>aTg	p.T190M	CPNE7_uc002fnq.3_Intron	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	190					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGTGGCCACACGCAGGGATGG	0.642													T	89649923	C	T	89649923	3	4	210	1	0	0	0	0	1	0	0	0	3817	536	19	1	583	1	CPNE7	16	89649923	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	79706207	89649923	704830	50	14454											
NF1	4763	broad.mit.edu	37	17	29533378	29533378	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:29533378C>T	uc002hgg.3	+	11	1764	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	NF1_uc002hge.2_Nonsense_Mutation_p.R461*|NF1_uc002hgf.2_Nonsense_Mutation_p.R461*|NF1_uc002hgh.3_Nonsense_Mutation_p.R461*|NF1_uc010csn.2_Nonsense_Mutation_p.R321*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	461					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R461*(6)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCAGCAATACGAATGGCACC	0.383			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29533378	C	T	29533378	4	4	210	1	0	0	0	0	0	1	0	0	10356	528	19	1	1427	1	NF1	17	29533378	Nonsense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		29533378	51661832	51	14455											
NF1	4763	broad.mit.edu	37	17	29552132	29552132	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:29552132G>T	uc002hgg.3	+	16	2248	c.1865G>T	c.(1864-1866)tGt>tTt	p.C622F	NF1_uc002hgh.3_Missense_Mutation_p.C622F|NF1_uc010csn.2_Missense_Mutation_p.C482F|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	622					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.C622*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAGTTCCTGTCACTTTCTC	0.373			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29552132	G	T	29552132	3	4	210	1	0	0	0	0	1	0	0	0	10356	1377	48	5	1992	5	NF1	17	29552132	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	18754	29552132	51643078	52	14456											
TMEM132E	124842	broad.mit.edu	37	17	32956104	32956104	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:32956104C>T	uc002hif.3	+	4	1277	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	317						integral to membrane		p.R317W(2)		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)		GTCAGTCAAGCGGAGGATCAT	0.612													T	32956104	C	T	32956104	3	4	210	1	0	0	0	0	1	0	0	0	16045	759	27	1	967	1	TMEM132E	17	32956104	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	3403972	32956104	48239106	53	14457											
LRRC37A3	374819	broad.mit.edu	37	17	62893283	62893283	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:62893283C>G	uc002jey.2	-	2	709	c.93G>C	c.(91-93)tgG>tgC	p.W31C	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	31						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGACTAGTAGCCACAATAGTT	0.622													G	62893283	C	G	62893283	3	3	210	1	0	0	0	0	1	0	0	0	8993	740	26	5	4859	5	LRRC37A3	17	62893283	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	29937179	62893283	18301927	54	14458											
ZNF532	55205	broad.mit.edu	37	18	56587257	56587257	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr18:56587257G>A	uc010xeg.2	+	2	1935	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M	ZNF532_uc002lhp.3_Missense_Mutation_p.V578M|ZNF532_uc002lho.3_Missense_Mutation_p.V580M|ZNF532_uc002lhr.3_Missense_Mutation_p.V578M|ZNF532_uc002lhs.3_Missense_Mutation_p.V578M	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCAGAGTTCTGTGGTGGAAGC	0.522													A	56587257	G	A	56587257	3	1	210	1	0	0	0	0	1	0	0	0	17969	1377	48	3	1740	3	ZNF532	18	56587257	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		56587257	21489991	55	14459											
ZNF236	7776	broad.mit.edu	37	18	74680222	74680222	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr18:74680222G>T	uc002lmi.3	+	30	5663	c.5465G>T	c.(5464-5466)aGc>aTc	p.S1822I	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1822					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGAGCTGAGCCGGACCCTC	0.602													T	74680222	G	T	74680222	3	4	210	1	0	0	0	0	1	0	0	0	17786	971	34	5	5587	5	ZNF236	18	74680222	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	18092965	74680222	3397026	56	14460											
ACTL9	284382	broad.mit.edu	37	19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	rs139329295		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:8808430C>T	uc002mkl.2	-	0	743	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	208						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGGAAGACGGGCACTGTG	0.667													T	8808430	C	T	8808430	3	4	210	1	0	0	0	0	1	0	0	0	203	536	19	1	632	1	ACTL9	19	8808430	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		8808430	50320553	57	14461											
PVR	5817	broad.mit.edu	37	19	45153152	45153152	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:45153152G>A	uc002ozm.3	+	2	798	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	PVR_uc010ejs.3_Missense_Mutation_p.V167I|PVR_uc010xxb.2_Missense_Mutation_p.V167I|PVR_uc010xxc.2_Missense_Mutation_p.V167I|PVR_uc002ozn.3_Missense_Mutation_p.V112I	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	167	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCCCGCTGCGTCTCCACAGG	0.617													A	45153152	G	A	45153152	3	1	210	1	0	0	0	0	1	0	0	0	12837	1145	40	1	509	1	PVR	19	45153152	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	36344722	45153152	13975831	58	14462											
NTF4	4909	broad.mit.edu	37	19	49564639	49564639	+	Missense_Mutation	SNP	G	G	A	rs121918427		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:49564639G>A	uc002pmf.4	-	1	752	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.R206W	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	206			R -> Q (in a patient with primary open- angle glaucoma; uncertain pathological significance).|R -> W (in patients with primary open- angle glaucoma and normal pressure glaucoma; uncertain pathological significance; impaired ligand-mediated TRKB signaling and reduced neurite outgrowth).		adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CGGCCAGTCCGGCTGAGGAGT	0.602													A	49564639	G	A	49564639	3	1	210	1	0	0	0	0	1	0	0	0	10697	1115	39	2	20	2	NTF4	19	49564639	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	4411487	49564639	9564344	59	14463											
ZNF813	126017	broad.mit.edu	37	19	53994271	53994271	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:53994271G>A	uc021uzf.1	+	0					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.R262H	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GTGTGCCATCGTAGATGTCAC	0.413													A	53994271	G	A	53994271	3	1	210	1	0	0	0	0	1	0	0	0	18172	1145	40	1	795	1	ZNF813	19	53994271	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	4429632	53994271	5134712	60	14464											
ZNF335	63925	broad.mit.edu	37	20	44587938	44587938	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr20:44587938G>A	uc002xqw.3	-	14	2278	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNF335_uc010zxk.2_Missense_Mutation_p.R564C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R719C(4)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCGACGGCGGGAGGGGGGC	0.657													A	44587938	G	A	44587938	3	1	210	1	0	0	0	0	1	0	0	0	17849	1116	39	2	1929	2	ZNF335	20	44587938	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		44587938	18437582	61	14465											
UCKL1	54963	broad.mit.edu	37	20	62571758	62571758	+	Silent	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr20:62571758C>T	uc010gkn.3	-	12	1458	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	UCKL1_uc011abm.2_Silent_p.A446A|UCKL1_uc011abn.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	461					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCATCATGGCCGCCGCGCCCG	0.642													T	62571758	C	T	62571758	2	4	210	1	0	0	0	0	0	0	0	1	16922	639	23	2		2	UCKL1	20	62571758	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	17983820	62571758	453762	62	14466											
TPTE	7179	broad.mit.edu	37	21	10942995	10942995	+	Nonsense_Mutation	SNP	G	G	A	rs147014138	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr21:10942995G>A	uc002yip.1	-	11	960	c.592C>T	c.(592-594)Cga>Tga	p.R198*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R180*|TPTE_uc002yir.1_Nonsense_Mutation_p.R160*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R60*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	198					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L197H(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)		ATAATAAGTCGTAGAAGTCGA	0.313													A	10942995	G	A	10942995	4	1	210	1	0	0	0	0	0	1	0	0	16427	1153	40	1	1115	1	TPTE	21	10942995	Nonsense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		10942995	37186900	63	14467											
KLHL22	84861	broad.mit.edu	37	22	20819524	20819524	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr22:20819524G>A	uc002zsl.2	-	3	890	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	KLHL22_uc011ahr.2_Missense_Mutation_p.R102W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	245					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCGGAAACCGCACTGTCTCA	0.607													A	20819524	G	A	20819524	3	1	210	1	0	0	0	0	1	0	0	0	8377	1086	38	1	1187	1	KLHL22	22	20819524	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		20819524	30485042	64	14468											
RFPL2	10739	broad.mit.edu	37	22	32586994	32586994	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr22:32586994C>T	uc003amg.3	-	4	1838	c.902G>A	c.(901-903)cGc>cAc	p.R301H	RFPL2_uc003ame.3_Missense_Mutation_p.R240H|RFPL2_uc003amf.3_Missense_Mutation_p.R211H|RFPL2_uc003amh.3_Missense_Mutation_p.R211H	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	301	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTGTAACTTGCGGTCTACGAA	0.512													T	32586994	C	T	32586994	3	4	210	1	0	0	0	0	1	0	0	0	13254	768	27	1	238	1	RFPL2	22	32586994	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	11767470	32586994	18717572	65	14469											
TLR7	51284	broad.mit.edu	37	X	12906487	12906487	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:12906487G>A	uc004cvc.3	+	2	2999	c.2860G>A	c.(2860-2862)Gtg>Atg	p.V954M		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	954	TIR.				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			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)	CAAAAAGACAGTGTTTGTGAT	0.388													A	12906487	G	A	12906487	3	1	210	1	0	0	0	0	1	0	0	0	15953	1029	36	3	2866	3	TLR7	23	12906487	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		12906487	142364073	66	14470											
CHRDL1	91851	broad.mit.edu	37	X	109922646	109922646	+	Silent	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:109922646G>A	uc004eou.4	-	10	1513	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	CHRDL1_uc004eov.3_Silent_p.L377L|CHRDL1_uc004eow.3_Silent_p.L386L|CHRDL1_uc010nps.3_Silent_p.L387L|CHRDL1_uc011mss.2_Silent_p.L308L	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	380					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGAAGTGCTGGAGAATGCCTA	0.453													A	109922646	G	A	109922646	2	1	210	1	0	0	0	0	0	0	0	1	3373	1161	41	3		3	CHRDL1	23	109922646	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	97016159	109922646	45347914	67	14471											
AFF2	2334	broad.mit.edu	37	X	148039907	148039907	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:148039907G>A	uc004fcp.3	+	11	3088	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H	AFF2_uc004fcq.3_Missense_Mutation_p.R860H|AFF2_uc004fcr.3_Missense_Mutation_p.R831H|AFF2_uc011mxb.2_Missense_Mutation_p.R835H|AFF2_uc004fcs.3_Missense_Mutation_p.R837H|AFF2_uc011mxc.2_Missense_Mutation_p.R511H	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	870					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGCAGCGCCTGGAGGAG	0.512													A	148039907	G	A	148039907	3	1	210	1	0	0	0	0	1	0	0	0	357	1087	38	1	2710	1	AFF2	23	148039907	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	38117261	148039907	7230653	68	14472											
L1CAM	3897	broad.mit.edu	37	X	153130576	153130576	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:153130576C>T	uc004fjb.3	-	20	2947	c.2839G>A	c.(2839-2841)Gtg>Atg	p.V947M	L1CAM_uc004fjc.3_Missense_Mutation_p.V947M|L1CAM_uc010nuo.3_Missense_Mutation_p.V942M	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	947	Fibronectin type-III 4.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.V947M(2)|p.G946C(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					CCGGTGAGCACGCCGTTGTGG	0.716													T	153130576	C	T	153130576	3	4	210	1	0	0	0	0	1	0	0	0	8588	536	19	1	966	1	L1CAM	23	153130576	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	5090669	153130576	2139984	69	14473											
AVPR2	554	broad.mit.edu	37	X	153171843	153171843	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:153171843G>A	uc004fjh.4	+	1	1055	c.883G>A	c.(883-885)Gcg>Acg	p.A295T	AVPR2_uc004fjg.4_Missense_Mutation_p.A84T|AVPR2_uc004fji.3_Missense_Mutation_p.A295T	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	295					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTGTGGGCCGCGTGGGACCC	0.647													A	153171843	G	A	153171843	3	1	210	1	0	0	0	0	1	0	0	0	1233	1087	38	1	889	1	AVPR2	23	153171843	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	41267	153171843	2098717	70	14474											
AKR7A3	22977	broad.mit.edu	37	1	19611245	19611245	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:19611245delG	uc001bbv.1	-	4	716	c.639delC	c.(637-639)gacfs	p.D213fs		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	213					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCATTCTTGTCCTCATACT	0.597													-	19611245	G	-	19611245	7	5	211	1	0	1	0	1	0	0	0	0	476	1368	48	0	368	0	AKR7A3	1	19611245	Frame_Shift_Del	DEL	G	TCGA-28-5209-01A-01D-1486-08		19611245	229639376	1	14475											
SLC1A7	6512	broad.mit.edu	37	1	53559217	53559217	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:53559217C>T	uc021onn.1	-	5	881	c.713G>A	c.(712-714)cGc>cAc	p.R238H	SLC1A7_uc021onm.1_Missense_Mutation_p.R166H|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Missense_Mutation_p.R238H|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	238						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R238C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GTCACCCATGCGGCCCAGCAT	0.617													T	53559217	C	T	53559217	3	4	211	1	0	0	0	0	1	0	0	0	14437	768	27	1	993	1	SLC1A7	1	53559217	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	33947972	53559217	195691404	2	14476											
ODF2L	57489	broad.mit.edu	37	1	86838137	86838137	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:86838137T>A	uc001dll.2	-	8	1259	c.897A>T	c.(895-897)gaA>gaT	p.E299D	ODF2L_uc001dlp.3_Missense_Mutation_p.E299D|ODF2L_uc010osg.2_Missense_Mutation_p.E299D|ODF2L_uc001dlm.2_Missense_Mutation_p.E299D|ODF2L_uc021opg.1_Missense_Mutation_p.E168D|ODF2L_uc001dlq.2_Missense_Mutation_p.E129D|ODF2L_uc009wcr.2_Missense_Mutation_p.E168D	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	299						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CAATCTGTACTTCCAATTCGG	0.259													A	86838137	T	A	86838137	3	1	211	1	0	0	0	0	1	0	0	0	10828	1606	56	5	1229	5	ODF2L	1	86838137	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	33278920	86838137	162412484	3	14477											
SPAG17	200162	broad.mit.edu	37	1	118574428	118574428	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:118574428C>A	uc001ehk.2	-	24	3564	c.3496G>T	c.(3496-3498)Gtt>Ttt	p.V1166F		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1166						cilium|flagellar axoneme|microtubule		p.V1165V(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)		ATAACAGGAACCACTGTTGGA	0.353													A	118574428	C	A	118574428	3	1	211	1	0	0	0	0	1	0	0	0	14979	507	18	5	3271	5	SPAG17	1	118574428	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	31736291	118574428	130676193	4	14478											
FCER1A	2205	broad.mit.edu	37	1	159272655	159272655	+	Missense_Mutation	SNP	G	G	A	rs142162478		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:159272655G>A	uc001ftq.3	+	2	164	c.67G>A	c.(67-69)Gtg>Atg	p.V23M		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	23						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)	TCCAGATGGCGTGTTAGCAGG	0.463													A	159272655	G	A	159272655	3	1	211	1	0	0	0	0	1	0	0	0	5774	1145	40	1	73	1	FCER1A	1	159272655	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	40698227	159272655	89977966	5	14479											
PLA2G4A	5321	broad.mit.edu	37	1	186863266	186863266	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:186863266A>T	uc001gsc.3	+	4	506	c.301A>T	c.(301-303)Act>Tct	p.T101S	PLA2G4A_uc010pos.2_Missense_Mutation_p.T101S	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	101	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.E100*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CATGGATGAAACTCTAGGGAC	0.328													T	186863266	A	T	186863266	3	4	211	1	0	0	0	0	1	0	0	0	12001	43	2	5	315	5	PLA2G4A	1	186863266	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	27590611	186863266	62387355	6	14480											
MIA3	375056	broad.mit.edu	37	1	222833136	222833136	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:222833136A>G	uc001hnl.3	+	21	4876	c.4867A>G	c.(4867-4869)Aga>Gga	p.R1623G	MIA3_uc001hnm.3_Missense_Mutation_p.R501G	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1623					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGCCAATTTGAGACACAAGTA	0.358													G	222833136	A	G	222833136	3	3	211	1	0	0	0	0	1	0	0	0	9565	296	11	4	4953	4	MIA3	1	222833136	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	35969870	222833136	26417485	7	14481											
USP39	10713	broad.mit.edu	37	2	85863233	85863233	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:85863233G>A	uc002sqe.3	+	6	1043	c.1007G>A	c.(1006-1008)gGc>gAc	p.G336D	USP39_uc002sqb.3_Missense_Mutation_p.G67D|USP39_uc010ysu.2_Missense_Mutation_p.G258D|USP39_uc010ysv.2_Missense_Mutation_p.G233D|USP39_uc010fgn.1_Missense_Mutation_p.G336D|USP39_uc002sqg.3_Missense_Mutation_p.G336D|USP39_uc010fgo.3_Missense_Mutation_p.G336D	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	336					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCTCTGGGGGGCACAAAGAAG	0.423													A	85863233	G	A	85863233	3	1	211	1	0	0	0	0	1	0	0	0	17067	1203	42	3	1033	3	USP39	2	85863233	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		85863233	157336140	8	14482											
TTN	7273	broad.mit.edu	37	2	179631234	179631234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:179631234G>A	uc021vsy.1	-	40	9802	c.9577C>T	c.(9577-9579)Cga>Tga	p.R3193*	TTN_uc021vsz.1_Nonsense_Mutation_p.R3147*|TTN_uc021vta.1_Nonsense_Mutation_p.R3147*|TTN_uc021vtb.1_Nonsense_Mutation_p.R3147*|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Nonsense_Mutation_p.R3193*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3193							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3147*(6)|p.R3193*(5)|p.P3192L(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)			TATTTGTGTCGTTCTTGAACT	0.423													A	179631234	G	A	179631234	4	1	211	1	0	0	0	0	0	1	0	0	16732	1153	40	1	101699	1	TTN	2	179631234	Nonsense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	93768001	179631234	63568139	9	14483											
MKRN2	23609	broad.mit.edu	37	3	12616291	12616291	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:12616291A>G	uc003bxd.3	+	5	699	c.643_splice	c.e5-1	p.I215_splice	MKRN2_uc011aus.2_Splice_Site_p.I172_splice	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	215	Makorin-type Cys-His.					intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGTGCTTCAGATCTGCATGTT	0.542													G	12616291	A	G	12616291	3	3	211	1	0	0	0	0	1	0	0	0	9607	347	12	4	661	4	MKRN2	3	12616291	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08		12616291	185406139	10	14484											
MST1R	4486	broad.mit.edu	37	3	49940348	49940348	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:49940348A>T	uc003cxy.4	-	0	959	c.695T>A	c.(694-696)tTt>tAt	p.F232Y	MST1R_uc011bdc.2_Missense_Mutation_p.F232Y|MST1R_uc011bdd.2_Missense_Mutation_p.F232Y|MST1R_uc011bde.1_Missense_Mutation_p.F232Y|MST1R_uc011bdf.1_Missense_Mutation_p.F232Y|MST1R_uc011bdg.2_Missense_Mutation_p.F232Y	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	232	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAACGCCACAAAGCCCGGTGC	0.577													T	49940348	A	T	49940348	3	4	211	1	0	0	0	0	1	0	0	0	9891	14	1	5	3587	5	MST1R	3	49940348	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	37324057	49940348	148082082	11	14485											
CACNA1D	776	broad.mit.edu	37	3	53837549	53837549	+	Nonsense_Mutation	SNP	T	T	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:53837549T>G	uc003dgv.4	+	43	5698	c.5535T>G	c.(5533-5535)taT>taG	p.Y1845*	CACNA1D_uc003dgu.4_Nonsense_Mutation_p.Y1865*|CACNA1D_uc003dgy.4_Nonsense_Mutation_p.Y1821*|CACNA1D_uc003dgw.4_Nonsense_Mutation_p.Y1512*|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1845					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGCAGGAGTATTTCAGTAGTG	0.597													G	53837549	T	G	53837549	4	3	211	1	0	0	0	0	0	1	0	0	2541	1500	52	5	5881	5	CACNA1D	3	53837549	Nonsense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	3897201	53837549	144184881	12	14486											
NPHP3	84129	broad.mit.edu	37	3	132360955	132360955	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:132360955G>C	uc003eov.4	-	3	778	c.398C>G	c.(397-399)aCa>aGa	p.T133R		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAGGAATTGTTAAATCACG	0.378													C	132360955	G	C	132360955	3	2	211	1	0	0	0	0	1	0	0	0	10580	1377	48	5		5	NPHP3	3	132360955	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	78523406	132360955	65661475	13	14487											
RNF168	165918	broad.mit.edu	37	3	196229875	196229876	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:196229875_196229876delCG	uc003fwq.3	-	0	764_765	c.169_170delCG	c.(169-171)cggfs	p.R57fs	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	57					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CGACGATACCCGGCGGCGACAG	0.545													-	196229876	CG	-	196229875	7	5	211	1	0	1	0	1	0	0	0	0	13459	652	23	0	1569	0	RNF168	3	196229875	Frame_Shift_Del	DEL	CG	TCGA-28-5209-01A-01D-1486-08	63868920	196229875	1792555	14	14488											
ABCG2	9429	broad.mit.edu	37	4	89053763	89053763	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:89053763G>A	uc003hrg.3	-	2	721	c.228C>T	c.(226-228)aaC>aaT	p.N76N	ABCG2_uc003hrh.3_Silent_p.N76N|ABCG2_uc003hrf.3_5'Flank|ABCG2_uc003hri.1_Silent_p.N76N|ABCG2_uc003hrj.1_Silent_p.N76N|ABCG2_uc003hrk.1_Silent_p.N76N	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	76	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCAGGATGGCGTTGAGACCAG	0.393													A	89053763	G	A	89053763	2	1	211	1	0	0	0	0	0	0	0	1	69	1136	40	1		1	ABCG2	4	89053763	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08		89053763	102100513	15	14489											
UNC5C	8633	broad.mit.edu	37	4	96256705	96256705	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:96256705G>C	uc003hto.3	-	1	555	c.202C>G	c.(202-204)Cct>Gct	p.P68A	UNC5C_uc010ilc.2_Missense_Mutation_p.P68A|UNC5C_uc003htq.3_Missense_Mutation_p.P68A	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	68	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTTCTTCAGGCTCAATAAGG	0.418													C	96256705	G	C	96256705	3	2	211	1	0	0	0	0	1	0	0	0	16990	1203	42	5	2653	5	UNC5C	4	96256705	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	7202942	96256705	94897571	16	14490											
PDHA2	5161	broad.mit.edu	37	4	96762205	96762205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:96762205C>T	uc003htr.4	+	0	967	c.904C>T	c.(904-906)Cga>Tga	p.R302*		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	302					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TTATCGTACACGAGAAGAAAT	0.423													T	96762205	C	T	96762205	4	4	211	1	0	0	0	0	0	1	0	0	11665	528	19	1	906	1	PDHA2	4	96762205	Nonsense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	505500	96762205	94392071	17	14491											
ADAD1	132612	broad.mit.edu	37	4	123317517	123317517	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:123317517T>C	uc003ieo.3	+	6	941	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	ADAD1_uc003iep.3_Missense_Mutation_p.F237L|ADAD1_uc003ieq.3_Missense_Mutation_p.F219L	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	237					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTGGCTGCTTTTATAATTGA	0.279													C	123317517	T	C	123317517	3	2	211	1	0	0	0	0	1	0	0	0	231	1841	64	4	727	4	ADAD1	4	123317517	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	26555312	123317517	67836759	18	14492											
RASGRF2	5924	broad.mit.edu	37	5	80382758	80382758	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:80382758C>T	uc003kha.2	+	8	1426	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.T287M	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	459					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAGCCAAACGTTCATCCGC	0.532													T	80382758	C	T	80382758	3	4	211	1	0	0	0	0	1	0	0	0	13073	536	19	1	1410	1	RASGRF2	5	80382758	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		80382758	100532502	19	14493											
SLC22A5	6584	broad.mit.edu	37	5	131729923	131729923	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:131729923G>T	uc003kwx.4	+	10	1969	c.1705G>T	c.(1705-1707)Ggt>Tgt	p.G569C	SLC22A5_uc003kww.4_Missense_Mutation_p.G545C	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	545					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTTAAAAGATGGTCAAGAAAG	0.393													T	131729923	G	T	131729923	3	4	211	1	0	0	0	0	1	0	0	0	14457	1348	47	5	1671	5	SLC22A5	5	131729923	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	51347165	131729923	49185337	20	14494											
PCDHGC5	56102	broad.mit.edu	37	5	140751480	140751480	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:140751480G>A	uc003ljw.2	+	0	1519	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M	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.V507M|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	509	Cadherin 5.				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)			CTACGTGTCCGTGAGCGCGCG	0.667													A	140751480	G	A	140751480	3	1	211	1	0	0	0	0	1	0	0	0	11571	1145	40	1		1	PCDHGC5	5	140751480	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	9021557	140751480	40163780	21	14495											
GRM6	2916	broad.mit.edu	37	5	178408768	178408768	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:178408768C>T	uc003mjr.3	-	9	2703	c.2524G>A	c.(2524-2526)Gtc>Atc	p.V842I	GRM6_uc003mjq.3_Missense_Mutation_p.V245I	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	842					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		AAGAGGATGACGTAGGTTTTG	0.587													T	178408768	C	T	178408768	3	4	211	1	0	0	0	0	1	0	0	0	6801	536	19	1	113	1	GRM6	5	178408768	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	37657288	178408768	2506492	22	14496											
LRFN2	57497	broad.mit.edu	37	6	40359728	40359728	+	Missense_Mutation	SNP	C	C	T	rs146316351	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:40359728C>T	uc003oph.1	-	2	2789	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	775						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAAGTCCCCCGGGCCCCCAC	0.607													T	40359728	C	T	40359728	3	4	211	1	0	0	0	0	1	0	0	0	8938	652	23	2	49	2	LRFN2	6	40359728	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		40359728	130755339	23	14497											
TTBK1	84630	broad.mit.edu	37	6	43222352	43222352	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:43222352C>T	uc003ouq.1	+	5	818	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	180	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTCGGGCTGGCCCGGCAGTAC	0.652													T	43222352	C	T	43222352	3	4	211	1	0	0	0	0	1	0	0	0	16673	739	26	3	557	3	TTBK1	6	43222352	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	2862624	43222352	127892715	24	14498											
DEFB114	245928	broad.mit.edu	37	6	49928132	49928132	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:49928132C>T	uc011dwp.2	-	1	83	c.83G>A	c.(82-84)cGt>cAt	p.R28H		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	28					defense response to bacterium	extracellular region		p.R28C(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTTGGTGCAACGATCAGCATT	0.353													T	49928132	C	T	49928132	3	4	211	1	0	0	0	0	1	0	0	0	4403	536	19	1	129	1	DEFB114	6	49928132	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	6705780	49928132	121186935	25	14499											
SYNJ2	8871	broad.mit.edu	37	6	158483053	158483053	+	Silent	SNP	C	C	T	rs142499089		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:158483053C>T	uc003qqx.2	+	7	1090	c.984C>T	c.(982-984)ggC>ggT	p.G328G	SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Silent_p.G328G|SYNJ2_uc003qqy.2_Silent_p.G91G|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.G277G|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	328	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.A327V(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCCACGCGGGCGACACGCCTA	0.567													T	158483053	C	T	158483053	2	4	211	1	0	0	0	0	0	0	0	1	15450	755	27	1		1	SYNJ2	6	158483053	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	108554921	158483053	12632014	26	14500											
CARD11	84433	broad.mit.edu	37	7	2953020	2953020	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:2953020G>A	uc003smv.3	-	21	3254	c.2920C>T	c.(2920-2922)Cgc>Tgc	p.R974C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	974	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACGGGCCGGCGGCGCTCGCAG	0.652			Mis		DLBCL								A	2953020	G	A	2953020	3	1	211	1	0	0	0	0	1	0	0	0	2645	1116	39	2	560	2	CARD11	7	2953020	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		2953020	156185643	27	14501											
CCDC129	223075	broad.mit.edu	37	7	31682505	31682505	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:31682505G>A	uc011kae.2	+	10	1611	c.1599G>A	c.(1597-1599)ctG>ctA	p.L533L	CCDC129_uc011kad.1_Silent_p.L517L|CCDC129_uc003tcj.1_Silent_p.L507L|CCDC129_uc003tci.1_Silent_p.L358L|CCDC129_uc003tck.1_Silent_p.L415L	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	507								p.L359L(1)|p.L507L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAGAGTTTCTGCTTGAGGCCA	0.532													A	31682505	G	A	31682505	2	1	211	1	0	0	0	0	0	0	0	1	2764	1306	46	3		3	CCDC129	7	31682505	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	28729485	31682505	127456158	28	14502											
AEBP1	165	broad.mit.edu	37	7	44146386	44146386	+	Silent	SNP	G	G	A	rs144974496		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:44146386G>A	uc003tkb.3	+	1	800	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	165	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAAGCCCCCGTCAGGGAAGA	0.652													A	44146386	G	A	44146386	2	1	211	1	0	0	0	0	0	0	0	1	349	1132	40	1		1	AEBP1	7	44146386	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	12463881	44146386	114992277	29	14503											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	C	rs139236063		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55233043G>C	uc003tqk.3	+	14	2039	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55233043	G	C	55233043	3	2	211	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	11086657	55233043	103905620	30	14504											
EGFR	1956	broad.mit.edu	37	7	55268064	55268064	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55268064C>T	uc003tqk.3	+	23	3150	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F	EGFR_uc022adm.1_Silent_p.F968F|EGFR_uc010kzg.2_Silent_p.F923F|EGFR_uc022adn.1_Silent_p.F923F|EGFR_uc011kco.2_Silent_p.F915F	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	968	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F968L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCATCGAATTCTCCAAAATGG	0.478		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55268064	C	T	55268064	2	4	211	1	0	0	0	0	0	0	0	1	4967	912	32	3		3	EGFR	7	55268064	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	35021	55268064	103870599	31	14505	17	2									
EGFR	1956	broad.mit.edu	37	7	55268067	55268067	+	Silent	SNP	C	C	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55268067C>G	uc003tqk.3	+	23	3153	c.2907C>G	c.(2905-2907)tcC>tcG	p.S969S	EGFR_uc022adm.1_Silent_p.S969S|EGFR_uc010kzg.2_Silent_p.S924S|EGFR_uc022adn.1_Silent_p.S924S|EGFR_uc011kco.2_Silent_p.S916S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	969	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F968L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGAATTCTCCAAAATGGCCC	0.483		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55268067	C	G	55268067	2	3	211	1	0	0	0	0	0	0	0	1	4967	581	21	5		5	EGFR	7	55268067	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	3	55268067	103870596	32	14506	17	2									
CHCHD2	51142	broad.mit.edu	37	7	56170668	56170670	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:56170668_56170670delGCT	uc003tsa.3	-	2	416_418	c.335_337delAGC	c.(334-339)cagcct>cct	p.Q112del	PSPH_uc003trj.3_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.	112	CHCH.					mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGAGGCAAGGCTGCTGCTGCTG	0.488													-	56170670	GCT	-	56170668	7	5	211	1	0	1	0	1	0	0	0	0	3316	1203	42	0	126	0	CHCHD2	7	56170668	In_Frame_Del	DEL	GCT	TCGA-28-5209-01A-01D-1486-08	902601	56170668	102967995	33	14507											
CALN1	83698	broad.mit.edu	37	7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	rs144352678	by1000genomes	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:71252855C>T	uc003twb.4	-	6	1082	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	189						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537													T	71252855	C	T	71252855	3	4	211	1	0	0	0	0	1	0	0	0	2591	536	19	1	98	1	CALN1	7	71252855	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	15082187	71252855	87885808	34	14508											
SEMA3E	9723	broad.mit.edu	37	7	83032082	83032082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:83032082G>A	uc003uhy.2	-	9	1630	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SEMA3E_uc022agy.1_Nonsense_Mutation_p.R277*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	337	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.R337*(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCATGCCCTCGAAAAATATTA	0.403													A	83032082	G	A	83032082	4	1	211	1	0	0	0	0	0	1	0	0	14028	1066	37	2	1350	2	SEMA3E	7	83032082	Nonsense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	11779227	83032082	76106581	35	14509											
ABCB4	5244	broad.mit.edu	37	7	87074204	87074204	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:87074204A>G	uc003uiv.1	-	9	1169	c.1093T>C	c.(1093-1095)Tat>Cat	p.Y365H	ABCB4_uc003uiw.1_Missense_Mutation_p.Y365H|ABCB4_uc003uix.1_Missense_Mutation_p.Y365H	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	365					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAGATCACATATGCTGCTCCT	0.343													G	87074204	A	G	87074204	3	3	211	1	0	0	0	0	1	0	0	0	43	449	16	4	2843	4	ABCB4	7	87074204	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	4042122	87074204	72064459	36	14510											
COL1A2	1278	broad.mit.edu	37	7	94054949	94054949	+	Missense_Mutation	SNP	G	G	T	rs72659309		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:94054949G>T	uc003ung.1	+	42	3280	c.2809G>T	c.(2809-2811)Ggt>Tgt	p.G937C	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	937					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G937S(2)|p.P936S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCCCAGGTCGCGATGG	0.478										HNSCC(75;0.22)			T	94054949	G	T	94054949	3	4	211	1	0	0	0	0	1	0	0	0	3678	1000	35	5	2979	5	COL1A2	7	94054949	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	6980745	94054949	65083714	37	14511											
CUX1	1523	broad.mit.edu	37	7	101926060	101926060	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:101926060C>T	uc003uyt.3	+	21	2086	c.1959C>T	c.(1957-1959)tgC>tgT	p.C653C	CUX1_uc003uyw.3_Silent_p.C607C|CUX1_uc003uyv.3_Silent_p.C637C|CUX1_uc003uyu.3_Silent_p.C651C|CUX1_uc011kkn.2_Silent_p.C614C|SH2B2_uc011kko.2_5'Flank	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	0					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCACCTTCTGCGCCAAGAAGT	0.662													T	101926060	C	T	101926060	2	4	211	1	0	0	0	0	0	0	0	1	4064	776	27	1		1	CUX1	7	101926060	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	7871111	101926060	57212603	38	14512											
SVOPL	136306	broad.mit.edu	37	7	138305873	138305873	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:138305873G>A	uc011kqh.2	-	12	1271	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	SVOPL_uc003vue.3_Missense_Mutation_p.P272L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	424						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CATCGTGGTGGGGTAGACCTG	0.587													A	138305873	G	A	138305873	3	1	211	1	0	0	0	0	1	0	0	0	15421	1232	43	3	219	3	SVOPL	7	138305873	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	36379813	138305873	20832790	39	14513											
EPPK1	83481	broad.mit.edu	37	8	144940353	144940353	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr8:144940353C>T	uc003zaa.1	-	0	7082	c.7069G>A	c.(7069-7071)Gtg>Atg	p.V2357M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2357						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCACGGGCACGCGGTGGCTG	0.692													T	144940353	C	T	144940353	3	4	211	1	0	0	0	0	1	0	0	0	5190	536	19	1	197	1	EPPK1	8	144940353	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		144940353	1423669	40	14514											
ARMC4	55130	broad.mit.edu	37	10	28228843	28228843	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:28228843C>T	uc009xky.3	-	13	2178	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	ARMC4_uc010qds.2_Missense_Mutation_p.A219T|ARMC4_uc010qdt.2_Missense_Mutation_p.A386T|ARMC4_uc001itz.3_Missense_Mutation_p.A694T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	694							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATGGCCATGGCGCAGTGCTCC	0.458													T	28228843	C	T	28228843	3	4	211	1	0	0	0	0	1	0	0	0	953	768	27	1	1082	1	ARMC4	10	28228843	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		28228843	107305904	41	14515											
HNRNPF	3185	broad.mit.edu	37	10	43882701	43882701	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:43882701T>C	uc009xmh.1	-	2	1119	c.632A>G	c.(631-633)gAc>gGc	p.D211G	HNRNPF_uc001jar.2_Missense_Mutation_p.D211G|HNRNPF_uc001jas.2_Missense_Mutation_p.D211G|HNRNPF_uc001jat.2_Missense_Mutation_p.D211G|HNRNPF_uc001jav.2_Missense_Mutation_p.D211G|HNRNPF_uc001jau.2_Missense_Mutation_p.D211G|HNRNPF_uc021ppg.1_Missense_Mutation_p.D211G|HNRNPF_uc010qfa.1_Missense_Mutation_p.V128A	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	211					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCCGGGCCGGTCATAGGGCCC	0.592													C	43882701	T	C	43882701	3	2	211	1	0	0	0	0	1	0	0	0	7265	1667	58	4	619	4	HNRNPF	10	43882701	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	15653858	43882701	91652046	42	14516											
PTEN	5728	broad.mit.edu	37	10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:89717695_89717696insT	uc001kfb.3	+	6	1752_1753	c.720_721insT	c.(718-723)tactttfs	p.Y240fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	240	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.Y240*(3)|p.F241L(2)|p.F241S(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241fs*1(2)|p.F241fs*17(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.K237_Y240>N(1)|p.F241fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTCATGTACTTTGAGTTCCC	0.411		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717696	-	T	89717695	7	5	211	1	0	1	1	0	0	0	0	0	12738	576	20	0	746	0	PTEN	10	89717695	Frame_Shift_Ins	INS	-	TCGA-28-5209-01A-01D-1486-08	45834994	89717695	45817052	43	14517											
PI4K2A	55361	broad.mit.edu	37	10	99426254	99426254	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:99426254G>T	uc001kog.1	+	6	1201	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y	PI4K2A_uc010qoy.1_Missense_Mutation_p.D352Y|PI4K2A_uc009xvw.1_Intron	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	382	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GGAGATCAAAGATCTGATCCT	0.468													T	99426254	G	T	99426254	3	4	211	1	0	0	0	0	1	0	0	0	11871	942	33	5	1170	5	PI4K2A	10	99426254	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	9708559	99426254	36108493	44	14518											
BTRC	8945	broad.mit.edu	37	10	103190197	103190197	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:103190197C>T	uc001kta.3	+	1	257	c.144C>T	c.(142-144)ctC>ctT	p.L48L	BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.3_Intron|BTRC_uc001ktc.3_Silent_p.L48L	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGCGCACTCACAGCTTTCC	0.527													T	103190197	C	T	103190197	2	4	211	1	0	0	0	0	0	0	0	1	1569	813	29	3		3	BTRC	10	103190197	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	3763943	103190197	32344550	45	14519											
DMBT1	1755	broad.mit.edu	37	10	124345651	124345651	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:124345651G>A	uc001lgk.1	+	15	1641	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R502Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R512Q|DMBT1_uc021qag.1_Missense_Mutation_p.R502Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R512Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	512	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCCTATACCGAGGCTCCTGG	0.592													A	124345651	G	A	124345651	3	1	211	1	0	0	0	0	1	0	0	0	4577	1058	37	2	1597	2	DMBT1	10	124345651	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	21155454	124345651	11189096	46	14520											
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5625849	5625849	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:5625849C>A	uc001mbf.3	+	2	856	c.593C>A	c.(592-594)aCa>aAa	p.T198K	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.T144K|TRIM6-TRIM34_uc010qzj.2_5'UTR|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.T170K|TRIM6-TRIM34_uc001mbe.3_5'UTR|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.T198K|TRIM6-TRIM34_uc010qzk.2_5'UTR|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	198						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GAGAAGAAAACATCCTGGAAG	0.468													A	5625849	C	A	5625849	3	1	211	1	0	0	0	0	1	0	0	0	16531	478	17	5	603	5	TRIM6-TRIM34	11	5625849	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		5625849	129380667	47	14521											
COPB1	1315	broad.mit.edu	37	11	14498486	14498486	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:14498486C>A	uc001mlh.2	-	11	1680	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	COPB1_uc001mli.2_Missense_Mutation_p.E478D|COPB1_uc001mlg.2_Missense_Mutation_p.E478D|U7_uc021qee.1_5'Flank	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	478					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACCTGCGGATCTCAGTCATCA	0.373													A	14498486	C	A	14498486	3	1	211	1	0	0	0	0	1	0	0	0	3728	912	32	5	1471	5	COPB1	11	14498486	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	8872637	14498486	120508030	48	14522											
KCNA4	3739	broad.mit.edu	37	11	30033178	30033178	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:30033178A>T	uc021qfi.1	-	0	1048	c.1048T>A	c.(1048-1050)Ttg>Atg	p.L350M	KCNA4_uc001msk.3_Missense_Mutation_p.L350M	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	350						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCATTCAACAACCCACCATGC	0.478													T	30033178	A	T	30033178	3	4	211	1	0	0	0	0	1	0	0	0	8005	40	2	5	917	5	KCNA4	11	30033178	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	15534692	30033178	104973338	49	14523											
LRP4	4038	broad.mit.edu	37	11	46900805	46900805	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:46900805T>C	uc001ndn.4	-	20	3119	c.2876A>G	c.(2875-2877)tAt>tGt	p.Y959C		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	959					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			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)		GTCAGTCCAATAGATGCGCTC	0.567													C	46900805	T	C	46900805	3	2	211	1	0	0	0	0	1	0	0	0	8959	1406	49	4	2913	4	LRP4	11	46900805	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	16867627	46900805	88105711	50	14524											
MS4A15	219995	broad.mit.edu	37	11	60531221	60531221	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:60531221C>T	uc009ynf.1	+	1	235	c.15C>T	c.(13-15)ccC>ccT	p.P5P	MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Silent_p.P5P	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	5						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CTGCAGCTCCCGCCAGCAATG	0.527													T	60531221	C	T	60531221	2	4	211	1	0	0	0	0	0	0	0	1	9859	639	23	2		2	MS4A15	11	60531221	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	13630416	60531221	74475295	51	14525											
PGA5	5222	broad.mit.edu	37	11	61018718	61018718	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:61018718G>A	uc001nqz.3	+	8	1187	c.1132G>A	c.(1132-1134)Gca>Aca	p.A378T		NM_014224	NP_055039	P00790	PEPA_HUMAN	Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.	378					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						CTTCGACAGGGCAAACAACCA	0.557													A	61018718	G	A	61018718	3	1	211	1	0	0	0	0	1	0	0	0	11772	1203	42	3	1166	3	PGA5	11	61018718	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	487497	61018718	73987798	52	14526											
MMP27	64066	broad.mit.edu	37	11	102573550	102573550	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:102573550G>A	uc001phd.1	-	3	576	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	185					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCCGGACCAGGAGGAAAGGCA	0.458													A	102573550	G	A	102573550	3	1	211	1	0	0	0	0	1	0	0	0	9664	1174	41	3	1016	3	MMP27	11	102573550	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	41554832	102573550	32432966	53	14527											
DSCAML1	57453	broad.mit.edu	37	11	117342628	117342628	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:117342628C>T	uc001prh.1	-	14	3091	c.3089G>A	c.(3088-3090)cGc>cAc	p.R1030H		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	970	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTTCACTGCGGCCAATCTT	0.587													T	117342628	C	T	117342628	3	4	211	1	0	0	0	0	1	0	0	0	4769	768	27	1	3328	1	DSCAML1	11	117342628	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	14769078	117342628	17663888	54	14528											
DPPA3	359787	broad.mit.edu	37	12	7869602	7869602	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:7869602G>A	uc001qtf.3	+	3	487	c.409G>A	c.(409-411)Gtg>Atg	p.V137M		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	137						cytoplasm|nucleus		p.V137M(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAGTTTCTGCGTGTCTAATGG	0.378													A	7869602	G	A	7869602	3	1	211	1	0	0	0	0	1	0	0	0	4735	1145	40	1	423	1	DPPA3	12	7869602	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		7869602	125982293	55	14529											
CLEC4E	26253	broad.mit.edu	37	12	8689778	8689778	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:8689778G>A	uc001quo.1	-	3	470	c.305C>T	c.(304-306)gCg>gTg	p.A102V		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	102	C-type lectin.					integral to membrane	sugar binding	p.W101C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TAAACTTAACGCCCAGGAAAT	0.458													A	8689778	G	A	8689778	3	1	211	1	0	0	0	0	1	0	0	0	3515	1087	38	1	366	1	CLEC4E	12	8689778	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	820176	8689778	125162117	56	14530											
ABCC9	10060	broad.mit.edu	37	12	21991021	21991021	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:21991021C>T	uc001rfh.3	-	27	3577	c.3557G>A	c.(3556-3558)cGg>cAg	p.R1186Q	ABCC9_uc001rfi.1_Missense_Mutation_p.R1186Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1186	ABC transmembrane type-1 2.				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.R1186L(3)		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)	CCTAAAGGCCCGAATGGTGGT	0.423													T	21991021	C	T	21991021	3	4	211	1	0	0	0	0	1	0	0	0	59	652	23	2	1278	2	ABCC9	12	21991021	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	13301243	21991021	111860874	57	14531											
ADCY6	112	broad.mit.edu	37	12	49164592	49164592	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49164592C>T	uc001rsh.4	-	18	3873	c.3213G>A	c.(3211-3213)aaG>aaA	p.K1071K	ADCY6_uc001rsi.4_Silent_p.K1018K|ADCY6_uc001rsj.4_Silent_p.K1071K|ADCY6_uc010slw.1_3'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	1071					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CATTGATGTGCTTCATCTGCT	0.552													T	49164592	C	T	49164592	2	4	211	1	0	0	0	0	0	0	0	1	298	796	28	3		3	ADCY6	12	49164592	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	27173571	49164592	84687303	58	14532											
CACNB3	784	broad.mit.edu	37	12	49221583	49221583	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49221583G>A	uc001rsl.2	+	12	1815	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	CACNB3_uc010sly.2_Silent_p.G439G|CACNB3_uc010slz.2_Silent_p.G451G|CACNB3_uc001rsk.2_Silent_p.G299G|CACNB3_uc021qxm.1_Silent_p.G411G	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	452					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GTGCTAACGGGCATGACCCCC	0.622													A	49221583	G	A	49221583	2	1	211	1	0	0	0	0	0	0	0	1	2554	1190	42	3		3	CACNB3	12	49221583	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	56991	49221583	84630312	59	14533											
TUBA1B	10376	broad.mit.edu	37	12	49523423	49523423	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49523423C>T	uc001rtm.3	-	1	307	c.86G>A	c.(85-87)gGc>gAc	p.G29D	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_5'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	29					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGGCTGGATGCCGTGTTCCAG	0.582													T	49523423	C	T	49523423	3	4	211	1	0	0	0	0	1	0	0	0	16741	739	26	3	1281	3	TUBA1B	12	49523423	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	301840	49523423	84328472	60	14534											
KRT1	3848	broad.mit.edu	37	12	53072002	53072002	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:53072002T>C	uc001sau.1	-	2	871	c.812A>G	c.(811-813)gAg>gGg	p.E271G	KRT1_uc001sav.1_Missense_Mutation_p.E271G	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	271	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.E271Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GATTTCATCCTCATACCTGCA	0.403													C	53072002	T	C	53072002	3	2	211	1	0	0	0	0	1	0	0	0	8447	1551	54	4	1150	4	KRT1	12	53072002	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	3548579	53072002	80779893	61	14535											
TRHDE	29953	broad.mit.edu	37	12	73046818	73046818	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:73046818T>A	uc001sxa.3	+	16	2761	c.2731T>A	c.(2731-2733)Tct>Act	p.S911T		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	911					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTCACTGAATTCTGAGGTGGT	0.343													A	73046818	T	A	73046818	3	1	211	1	0	0	0	0	1	0	0	0	16476	1783	62	5	2797	5	TRHDE	12	73046818	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	19974816	73046818	60805077	62	14536											
NUDT4	11163	broad.mit.edu	37	12	93792556	93792556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:93792556C>T	uc010sup.2	+	3	666	c.268C>T	c.(268-270)Cga>Tga	p.R90*	NUDT4_uc001tcm.3_Nonsense_Mutation_p.R89*|NUDT4_uc001tcn.3_Nonsense_Mutation_p.R37*|NUDT4_uc010suq.2_Nonsense_Mutation_p.R38*|NUDT4_uc001tco.3_Nonsense_Mutation_p.R37*	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.	89	Nudix hydrolase.|Substrate binding (By similarity).				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						GAACCAAGACCGAAAGCACAG	0.343													T	93792556	C	T	93792556	4	4	211	1	0	0	0	0	0	1	0	0	10741	644	23	2	282	2	NUDT4	12	93792556	Nonsense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	20745738	93792556	40059339	63	14537											
MTERFD3	80298	broad.mit.edu	37	12	107371336	107371336	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:107371336C>T	uc001tme.1	-	1	2976	c.1157G>A	c.(1156-1158)tGa>tAa	p.*386*	MTERFD3_uc001tmf.1_Silent_p.*386*|MTERFD3_uc001tmg.1_Silent_p.*386*|MTERFD3_uc021rdh.1_Splice_Site_p.*386_splice|MTERFD3_uc001tmh.1_Splice_Site	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTCAGTATGTCATTCTTCAAC	0.358													T	107371336	C	T	107371336	2	4	211	1	0	0	0	0	0	0	0	1	9921	837	29	3		3	MTERFD3	12	107371336	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	13578780	107371336	26480559	64	14538											
WSCD2	9671	broad.mit.edu	37	12	108603986	108603986	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:108603986G>A	uc001tms.3	+	3	1330	c.586G>A	c.(586-588)Gac>Aac	p.D196N	WSCD2_uc001tmt.3_Missense_Mutation_p.D196N	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	196	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGCAGAGTGCGACATGGAGTG	0.682													A	108603986	G	A	108603986	3	1	211	1	0	0	0	0	1	0	0	0	17404	1058	37	2	596	2	WSCD2	12	108603986	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	1232650	108603986	25247909	65	14539											
TUBA3C	7278	broad.mit.edu	37	13	19752451	19752451	+	Missense_Mutation	SNP	C	C	T	rs145210942		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:19752451C>T	uc009zzj.3	-	2	415	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	104					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGCCTCTGGCGTAATTATTG	0.532													T	19752451	C	T	19752451	3	4	211	1	0	0	0	0	1	0	0	0	16743	768	27	1	1054	1	TUBA3C	13	19752451	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		19752451	95417427	66	14540											
FLT3	2322	broad.mit.edu	37	13	28636176	28636176	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:28636176C>T	uc001urw.3	-	2	278	c.196G>A	c.(196-198)Gcg>Acg	p.A66T	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.A66T	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	66					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.A66A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGTCTCAACGCACACCCGAGG	0.532			"Mis, O"		"AML, ALL"								T	28636176	C	T	28636176	3	4	211	1	0	0	0	0	1	0	0	0	5942	710	25	3	2873	3	FLT3	13	28636176	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	8883725	28636176	86533702	67	14541											
SUCLA2	8803	broad.mit.edu	37	13	48571116	48571116	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:48571116C>T	uc001vbs.3	-	1	190	c.133G>A	c.(133-135)Gta>Ata	p.V45I	SUCLA2_uc010tgb.2_5'UTR|SUCLA2_uc010tgc.2_5'UTR|SUCLA2_uc010tgd.2_5'UTR	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	45					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TGCTGCTGTACTTGGAGTCCA	0.403													T	48571116	C	T	48571116	3	4	211	1	0	0	0	0	1	0	0	0	15362	565	20	3	1298	3	SUCLA2	13	48571116	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	19934940	48571116	66598762	68	14542											
KLF5	688	broad.mit.edu	37	13	73636601	73636601	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:73636601G>A	uc001vje.3	+	1	1188	c.864G>A	c.(862-864)atG>atA	p.M288I	KLF5_uc001vjd.3_Missense_Mutation_p.M197I	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	288					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CATACACAATGCCAAGTCAGT	0.522													A	73636601	G	A	73636601	3	1	211	1	0	0	0	0	1	0	0	0	8349	1319	46	3	870	3	KLF5	13	73636601	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	25065485	73636601	41533277	69	14543											
FOXG1	2290	broad.mit.edu	37	14	29237185	29237185	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:29237185T>G	uc001wqe.3	+	0	899	c.700T>G	c.(700-702)Tcc>Gcc	p.S234A		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	234					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			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)		CCACAATCTGTCCCTCAACAA	0.587													G	29237185	T	G	29237185	3	3	211	1	0	0	0	0	1	0	0	0	6007	1667	58	5	702	5	FOXG1	14	29237185	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08		29237185	78112355	70	14544											
SIPA1L1	26037	broad.mit.edu	37	14	72176033	72176033	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:72176033G>A	uc001xms.3	+	14	4284	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1308H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R762H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1308	Ser-rich.				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)		GATGGGGACCGCACAGAATCC	0.537													A	72176033	G	A	72176033	3	1	211	1	0	0	0	0	1	0	0	0	14329	1087	38	1	3977	1	SIPA1L1	14	72176033	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	42938848	72176033	35173507	71	14545											
AHNAK2	113146	broad.mit.edu	37	14	105413876	105413876	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:105413876C>T	uc010axc.1	-	6	8032	c.7912G>A	c.(7912-7914)Gac>Aac	p.D2638N	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D2538N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2638						nucleus				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)			ACACCCTTGTCGGCCAGGGAC	0.602													T	105413876	C	T	105413876	3	4	211	1	0	0	0	0	1	0	0	0	415	884	31	2	9479	2	AHNAK2	14	105413876	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	33237843	105413876	1935664	72	14546											
SPG11	80208	broad.mit.edu	37	15	44858195	44858195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr15:44858195G>A	uc001ztx.3	-	37	6887	c.6856C>T	c.(6856-6858)Cga>Tga	p.R2286*	SPG11_uc010bdw.3_Nonsense_Mutation_p.R416*|SPG11_uc010ueh.2_Nonsense_Mutation_p.R2173*|SPG11_uc010uei.2_Intron	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2286					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGGGCCTGTCGCACACAGGAG	0.532													A	44858195	G	A	44858195	4	1	211	1	0	0	0	0	0	1	0	0	15040	1095	38	1	487	1	SPG11	15	44858195	Nonsense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		44858195	57673197	73	14547											
ACSM2A	123876	broad.mit.edu	37	16	20492203	20492203	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:20492203A>T	uc010bwe.3	+	12	1708	c.1469A>T	c.(1468-1470)gAg>gTg	p.E490V	ACSM2A_uc010vax.1_Missense_Mutation_p.E411V|ACSM2A_uc002dhf.4_Missense_Mutation_p.E490V|ACSM2A_uc002dhg.4_Missense_Mutation_p.E490V|ACSM2A_uc010vay.2_Missense_Mutation_p.E411V|ACSM2A_uc002dhh.4_Missense_Mutation_p.E120V	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	490					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTGTGGTTGAGACGGCTGTG	0.562													T	20492203	A	T	20492203	3	4	211	1	0	0	0	0	1	0	0	0	183	304	11	5	1511	5	ACSM2A	16	20492203	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08		20492203	69862550	74	14548											
DNAH3	55567	broad.mit.edu	37	16	21128600	21128600	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:21128600C>T	uc010vbe.2	-	11	1738	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	DNAH3_uc002die.2_Missense_Mutation_p.A520T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	580	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTTCTTCTGCGTTAACAGTT	0.358													T	21128600	C	T	21128600	3	4	211	1	0	0	0	0	1	0	0	0	4603	768	27	1	10815	1	DNAH3	16	21128600	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	636397	21128600	69226153	75	14549											
CHP2	63928	broad.mit.edu	37	16	23768582	23768582	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:23768582C>T	uc002dmb.1	+	5	898	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	159	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CATCGCTGACCGCACGGTGCA	0.577													T	23768582	C	T	23768582	3	4	211	1	0	0	0	0	1	0	0	0	3367	652	23	2	497	2	CHP2	16	23768582	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	2639982	23768582	66586171	76	14550											
SLC38A7	55238	broad.mit.edu	37	16	58709937	58709937	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:58709937C>T	uc002eod.1	-	7	1183	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	SLC38A7_uc002eoc.1_Missense_Mutation_p.V264I|SLC38A7_uc010vil.1_Missense_Mutation_p.V175I|SLC38A7_uc002eoe.1_Missense_Mutation_p.V264I	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	264					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTTGAAGACGGGCACACTG	0.572													T	58709937	C	T	58709937	3	4	211	1	0	0	0	0	1	0	0	0	14609	536	19	1	618	1	SLC38A7	16	58709937	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	34941355	58709937	31644816	77	14551											
ATP2A3	489	broad.mit.edu	37	17	3840720	3840720	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:3840720C>T	uc002fwy.2	-	14	2484	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	ATP2A3_uc002fwz.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxa.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxb.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxc.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxd.2_Missense_Mutation_p.E771K|ATP2A3_uc002fwx.2_Missense_Mutation_p.E771K	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	771					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			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)		CAGACGACCTCGCCAACATTG	0.602													T	3840720	C	T	3840720	3	4	211	1	0	0	0	0	1	0	0	0	1138	893	31	2	927	2	ATP2A3	17	3840720	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		3840720	77354490	78	14552											
C17orf59	54785	broad.mit.edu	37	17	8092644	8092645	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:8092644_8092645CC>AA	uc010vut.2	-	0	920_921	c.814_815GG>TT	c.(814-816)gga>TTa	p.G272L		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.	272										large_intestine(2)|lung(3)|urinary_tract(1)	6						CACCCGGCCTCCCAGCTCCCGA	0.703													AA	8092645	CC	AA	8092644	3	1	211	1	0	0	0	0	1	0	0	0	1867	855	30	5	262	5	C17orf59	17	8092644	Missense_Mutation	DNP	CC	TCGA-28-5209-01A-01D-1486-08	4251924	8092644	73102566	79	14553											
TAOK1	57551	broad.mit.edu	37	17	27778581	27778593	+	Frame_Shift_Del	DEL	CAGAGCAGGCAGC	CAGAGCAGGCAGC	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:27778581_27778593delCAGAGCAGGCAGC	uc002hdz.2	+	1	209_221	c.15_27delCAGAGCAGGCAGC	c.(13-27)aacagagcaggcagcfs	p.N5fs	TAOK1_uc010wbe.2_Frame_Shift_Del_p.N5fs	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	5					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATCAACTAACAGAGCAGGCAGCCTGAAGGACC	0.46													-	27778593	CAGAGCAGGCAGC	-	27778581	7	5	211	1	0	1	0	1	0	0	0	0	15544	477	17	0	17	0	TAOK1	17	27778581	Frame_Shift_Del	DEL	CAGAGCAGGCAGC	TCGA-28-5209-01A-01D-1486-08	19685937	27778581	53416629	80	14554											
LAMA1	284217	broad.mit.edu	37	18	6965403	6965403	+	Missense_Mutation	SNP	C	C	A	rs141811330		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr18:6965403C>A	uc002knm.3	-	49	7173	c.7079G>T	c.(7078-7080)cGt>cTt	p.R2360L	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.R1836L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2360	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTCTGCCACGAAACAGCTC	0.443													A	6965403	C	A	6965403	3	1	211	1	0	0	0	0	1	0	0	0	8605	536	19	5	2204	5	LAMA1	18	6965403	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		6965403	71111845	81	14555											
AFG3L2	10939	broad.mit.edu	37	18	12351333	12351333	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr18:12351333C>T	uc002kqz.2	-	10	1592	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	466					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CGAAACGCCCCGGCCTAAGCA	0.463													T	12351333	C	T	12351333	2	4	211	1	0	0	0	0	0	0	0	1	360	639	23	2		2	AFG3L2	18	12351333	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	5385930	12351333	65725915	82	14556											
TMPRSS9	360200	broad.mit.edu	37	19	2418090	2418090	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:2418090G>A	uc010xgx.2	+	11	2006	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	669	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CTCACAGACCGCATGATCTGC	0.557													A	2418090	G	A	2418090	3	1	211	1	0	0	0	0	1	0	0	0	16250	1087	38	1	2052	1	TMPRSS9	19	2418090	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		2418090	56710893	83	14557											
ZNF358	140467	broad.mit.edu	37	19	7585507	7585507	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:7585507G>A	uc002mgn.2	+	1	1549	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	ZNF358_uc021unu.1_Missense_Mutation_p.R460H|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	460					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						agctctggccgcaaccctgac	0.667													A	7585507	G	A	7585507	3	1	211	1	0	0	0	0	1	0	0	0	17864	1087	38	1	1381	1	ZNF358	19	7585507	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	5167417	7585507	51543476	84	14558											
ICAM1	3383	broad.mit.edu	37	19	10394191	10394191	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:10394191C>T	uc002mnq.2	+	2	685	c.366C>T	c.(364-366)ccC>ccT	p.P122P	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	122					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CACCCCTCCCCTCTTGGCAGC	0.637													T	10394191	C	T	10394191	2	4	211	1	0	0	0	0	0	0	0	1	7479	668	24	3		3	ICAM1	19	10394191	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	2808684	10394191	48734792	85	14559											
MAN2B1	4125	broad.mit.edu	37	19	12759205	12759205	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:12759205C>G	uc002mub.2	-	20	2524	c.2448G>C	c.(2446-2448)agG>agC	p.R816S	MAN2B1_uc010dyv.1_Missense_Mutation_p.R815S	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	816					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTCAGCAGCCTTCGGTGCA	0.652													G	12759205	C	G	12759205	3	3	211	1	0	0	0	0	1	0	0	0	9216	738	26	5	603	5	MAN2B1	19	12759205	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	2365014	12759205	46369778	86	14560											
EMR2	30817	broad.mit.edu	37	19	14865775	14865775	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:14865775G>A	uc002mzp.1	-	13	2037	c.1581C>T	c.(1579-1581)taC>taT	p.Y527Y	EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Silent_p.Y516Y|EMR2_uc002mzq.1_Silent_p.Y467Y|EMR2_uc002mzr.1_Silent_p.Y478Y|EMR2_uc002mzs.1_Silent_p.Y385Y|EMR2_uc002mzt.1_Silent_p.Y423Y|EMR2_uc002mzu.1_Silent_p.Y434Y|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	527	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCTGCACATCGTAGTGGGCCA	0.527													A	14865775	G	A	14865775	2	1	211	1	0	0	0	0	0	0	0	1	5105	1140	40	1		1	EMR2	19	14865775	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	2106570	14865775	44263208	87	14561											
ZNF98	148198	broad.mit.edu	37	19	22575722	22575722	+	Silent	SNP	T	T	C			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:22575722T>C	uc002nqt.2	-	3	437	c.315A>G	c.(313-315)caA>caG	p.Q105Q		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F104I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTATCACTTTTTGGAAATAAT	0.299													C	22575722	T	C	22575722	2	2	211	1	0	0	0	0	0	0	0	1	18200	1838	64	4		4	ZNF98	19	22575722	Silent	SNP	T	TCGA-28-5209-01A-01D-1486-08	7709947	22575722	36553261	88	14562											
GPATCH1	55094	broad.mit.edu	37	19	33585093	33585093	+	Silent	SNP	C	C	T	rs149673951		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:33585093C>T	uc002nug.1	+	4	785	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	157	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGTTGGTTTCGAATTGCTAA	0.393													T	33585093	C	T	33585093	2	4	211	1	0	0	0	0	0	0	0	1	6590	883	31	2		2	GPATCH1	19	33585093	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	11009371	33585093	25543890	89	14563											
NPHS1	4868	broad.mit.edu	37	19	36336653	36336653	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:36336653G>A	uc002oby.3	-	12	1831	c.1675C>T	c.(1675-1677)Ccg>Tcg	p.P559S		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	559	Ig-like C2-type 6.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				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)			GCGTCTCCCGGGCGCAGTGCG	0.622													A	36336653	G	A	36336653	3	1	211	1	0	0	0	0	1	0	0	0	10582	1232	43	3	2118	3	NPHS1	19	36336653	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	2751560	36336653	22792330	90	14564											
PLEKHG2	64857	broad.mit.edu	37	19	39913516	39913516	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:39913516G>A	uc010xuz.2	+	17	2147	c.1822G>A	c.(1822-1824)Ggg>Agg	p.G608R	PLEKHG2_uc010xuy.2_Missense_Mutation_p.G549R|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.G386R	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	608					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			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGATGAACGGGGGCCTTCCCC	0.587													A	39913516	G	A	39913516	3	1	211	1	0	0	0	0	1	0	0	0	12069	1232	43	3	1888	3	PLEKHG2	19	39913516	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	3576863	39913516	19215467	91	14565											
C5AR1	728	broad.mit.edu	37	19	47823297	47823297	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:47823297C>T	uc002pgj.1	+	1	312	c.263C>T	c.(262-264)gCg>gTg	p.A88V		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	88					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			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)		TCCTGCCTGGCGCTGCCCATC	0.602													T	47823297	C	T	47823297	3	4	211	1	0	0	0	0	1	0	0	0	2281	768	27	1	268	1	C5AR1	19	47823297	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	7909781	47823297	11305686	92	14566											
SHANK1	50944	broad.mit.edu	37	19	51205832	51205832	+	Missense_Mutation	SNP	G	G	A	rs148526987		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:51205832G>A	uc002psx.1	-	10	1658	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	547					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCTTCCTCCGCCTCCCGCGG	0.711													A	51205832	G	A	51205832	3	1	211	1	0	0	0	0	1	0	0	0	14264	1086	38	1	4898	1	SHANK1	19	51205832	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	3382535	51205832	7923151	93	14567											
CD33	945	broad.mit.edu	37	19	51729289	51729289	+	Missense_Mutation	SNP	G	G	A	rs150408980	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:51729289G>A	uc002pwa.2	+	2	689	c.649G>A	c.(649-651)Gct>Act	p.A217T	CD33_uc010eos.1_Missense_Mutation_p.A217T|CD33_uc010eot.1_Missense_Mutation_p.A90T|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	217	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			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)	GGTGAAGTTCGCTGGAGCTGG	0.622													A	51729289	G	A	51729289	3	1	211	1	0	0	0	0	1	0	0	0	3005	1087	38	1	659	1	CD33	19	51729289	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	523457	51729289	7399694	94	14568											
PEG3	5178	broad.mit.edu	37	19	57326473	57326473	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:57326473C>T	uc002qnu.2	-	6	3688	c.3337G>A	c.(3337-3339)Ggc>Agc	p.G1113S	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1084S|PEG3_uc002qnv.2_Missense_Mutation_p.G1113S|PEG3_uc002qnw.2_Missense_Mutation_p.G989S|PEG3_uc002qnx.2_Missense_Mutation_p.G987S|PEG3_uc010etr.2_Missense_Mutation_p.G1113S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1113					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		AAGCCCAGGCCACAGTCCTCA	0.488													T	57326473	C	T	57326473	3	4	211	1	0	0	0	0	1	0	0	0	11720	594	21	3	1433	3	PEG3	19	57326473	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	5597184	57326473	1802510	95	14569											
ZNF543	125919	broad.mit.edu	37	19	57839653	57839653	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:57839653C>T	uc002qoi.2	+	3	1180	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		ACGGCACCAGCGGATTCACAG	0.527													T	57839653	C	T	57839653	3	4	211	1	0	0	0	0	1	0	0	0	17973	759	27	1	837	1	ZNF543	19	57839653	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	513180	57839653	1289330	96	14570											
RSPO4	343637	broad.mit.edu	37	20	948682	948682	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:948682C>T	uc002wej.3	-	1	279	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	RSPO4_uc002wek.3_Missense_Mutation_p.R60Q	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	60					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GATGCCTTCCCGGCGGATGAA	0.622													T	948682	C	T	948682	3	4	211	1	0	0	0	0	1	0	0	0	13712	652	23	2	541	2	RSPO4	20	948682	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		948682	62076838	97	14571											
PROKR2	128674	broad.mit.edu	37	20	5283318	5283318	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:5283318C>T	uc010zqw.2	-	1	531	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	PROKR2_uc010zqx.2_Missense_Mutation_p.A175T|PROKR2_uc010zqy.2_Missense_Mutation_p.A175T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	175						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A175S(4)|p.I174N(1)|p.I174I(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						CAGACCAAGGCGATCAGGAAG	0.493										HNSCC(71;0.22)			T	5283318	C	T	5283318	3	4	211	1	0	0	0	0	1	0	0	0	12553	768	27	1	634	1	PROKR2	20	5283318	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	4334636	5283318	57742202	98	14572											
PROKR2	128674	broad.mit.edu	37	20	5294853	5294853	+	Missense_Mutation	SNP	C	C	T	rs146963803	by1000genomes	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:5294853C>T	uc010zqw.2	-	0	171	c.163G>A	c.(163-165)Gtc>Atc	p.V55I	PROKR2_uc010zqx.2_Missense_Mutation_p.V55I|PROKR2_uc010zqy.2_Missense_Mutation_p.V55I|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	55						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.I54I(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						ATGCCAATGACGATCTTGGCT	0.517										HNSCC(71;0.22)			T	5294853	C	T	5294853	3	4	211	1	0	0	0	0	1	0	0	0	12553	536	19	1	998	1	PROKR2	20	5294853	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	11535	5294853	57730667	99	14573											
PCSK2	5126	broad.mit.edu	37	20	17434533	17434533	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:17434533C>T	uc002wpm.3	+	8	1386	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_uc002wpl.3_Silent_p.D325D|PCSK2_uc010zrm.2_Silent_p.D309D	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	344	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.D344D(2)|p.Y343Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTGTACGACGAGAGCTGCT	0.597													T	17434533	C	T	17434533	2	4	211	1	0	0	0	0	0	0	0	1	11601	535	19	1		1	PCSK2	20	17434533	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	12139680	17434533	45590987	100	14574											
TPTE	7179	broad.mit.edu	37	21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	rs113140892	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr21:10951332C>T	uc002yip.1	-	9	748	c.380G>A	c.(379-381)cGt>cAt	p.R127H	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R109H|TPTE_uc002yir.1_Missense_Mutation_p.R89H|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	127					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R126Q(1)|p.R126*(1)|p.R109H(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)		AGAAATAGAACGATACTCCAA	0.338													T	10951332	C	T	10951332	3	4	211	1	0	0	0	0	1	0	0	0	16427	536	19	1	1335	1	TPTE	21	10951332	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		10951332	37178563	101	14575											
ITGB2	3689	broad.mit.edu	37	21	46320316	46320316	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr21:46320316G>A	uc002zgd.2	-	5	860	c.816C>T	c.(814-816)gaC>gaT	p.D272D	ITGB2_uc002zgf.3_Silent_p.D272D|ITGB2_uc011afl.1_Silent_p.D194D|ITGB2_uc010gpw.2_Silent_p.D215D|ITGB2_uc002zgg.2_Silent_p.D272D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	272	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAGCTTCCCGTCGCCCGCGA	0.632													A	46320316	G	A	46320316	2	1	211	1	0	0	0	0	0	0	0	1	7894	1136	40	1		1	ITGB2	21	46320316	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	35368984	46320316	1809579	102	14576											
ZNF280B	140883	broad.mit.edu	37	22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:22842526C>T	uc002zwc.1	-	3	1974	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G399G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433													T	22842526	C	T	22842526	3	4	211	1	0	0	0	0	1	0	0	0	17812	893	31	2	437	2	ZNF280B	22	22842526	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		22842526	28462040	103	14577											
ZNF280A	129025	broad.mit.edu	37	22	22868784	22868784	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:22868784C>T	uc002zwe.3	-	1	1424	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.E391K	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E391K(2)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.453													T	22868784	C	T	22868784	3	4	211	1	0	0	0	0	1	0	0	0	17811	893	31	2	461	2	ZNF280A	22	22868784	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	26258	22868784	28435782	104	14578											
AP1B1	162	broad.mit.edu	37	22	29754763	29754763	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:29754763C>A	uc003afj.3	-	4	664	c.477G>T	c.(475-477)caG>caT	p.Q159H	AP1B1_uc003afl.3_Missense_Mutation_p.Q159H|AP1B1_uc003afi.3_Missense_Mutation_p.Q159H	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	159					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCAGGAAGCCCTGGTCCTCCA	0.597													A	29754763	C	A	29754763	3	1	211	1	0	0	0	0	1	0	0	0	731	680	24	5	2448	5	AP1B1	22	29754763	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	6885979	29754763	21549803	105	14579											
CPT1B	1375	broad.mit.edu	37	22	51008725	51008725	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:51008725G>A	uc003bmm.3	-	16	2238	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	CPT1B_uc003bmk.4_Silent_p.G713G|CPT1B_uc003bml.3_Silent_p.G713G|CPT1B_uc003bmo.3_Silent_p.G713G|CPT1B_uc011asa.2_Silent_p.G679G|CPT1B_uc003bmn.3_Silent_p.G713G|CPT1B_uc011asb.2_Silent_p.G632G|CPT1B_uc003bmp.3_Silent_p.G508G|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_5'Flank	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	713					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.G713G(2)|p.G713S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CACTCACAGGGCCAAAGCCAC	0.652													A	51008725	G	A	51008725	2	1	211	1	0	0	0	0	0	0	0	1	3832	1190	42	3		3	CPT1B	22	51008725	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	21253962	51008725	295841	106	14580											
MAGEB1	4112	broad.mit.edu	37	X	30268850	30268850	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:30268850C>T	uc022buh.1	+	0	240	c.240C>T	c.(238-240)gaC>gaT	p.D80D	MAGEB1_uc004dcc.3_Silent_p.D80D|MAGEB1_uc004dcd.3_Silent_p.D80D|MAGEB1_uc004dce.3_Silent_p.D80D	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	80										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCGAATCTGACGAAGGTGCCA	0.557													T	30268850	C	T	30268850	2	4	211	1	0	0	0	0	0	0	0	1	9172	535	19	1		1	MAGEB1	23	30268850	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08		30268850	125001710	107	14581											
ZNF157	7712	broad.mit.edu	37	X	47272323	47272323	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:47272323G>A	uc004dhr.1	+	3	920	c.851G>A	c.(850-852)cGt>cAt	p.R284H		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	284					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AAAACATTTCGTGTAAAGATA	0.443													A	47272323	G	A	47272323	3	1	211	1	0	0	0	0	1	0	0	0	17734	1145	40	1	865	1	ZNF157	23	47272323	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	17003473	47272323	107998237	108	14582											
SUV39H1	6839	broad.mit.edu	37	X	48564987	48564987	+	Silent	SNP	C	C	T			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:48564987C>T	uc004dkn.3	+	4	1119	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	SUV39H1_uc011mmf.2_Silent_p.G369G|SUV39H1_uc011mmg.2_Non-coding_Transcript	NM_003173	NP_003164	O43463	SUV91_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA.	358	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCCGGGCAGGCGAGGAGCTCA	0.592													T	48564987	C	T	48564987	2	4	211	1	0	0	0	0	0	0	0	1	15409	755	27	1		1	SUV39H1	23	48564987	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	1292664	48564987	106705573	109	14583											
ZC3H12B	340554	broad.mit.edu	37	X	64722205	64722205	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:64722205C>A	uc010nko.3	+	4	1694	c.1627C>A	c.(1627-1629)Cat>Aat	p.H543N		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	532							endonuclease activity|nucleic acid binding|zinc ion binding	p.H393N(1)|p.H479N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGGGGACCATGGCTACTA	0.478													A	64722205	C	A	64722205	3	1	211	1	0	0	0	0	1	0	0	0	17559	594	21	5	1645	5	ZC3H12B	23	64722205	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	16157218	64722205	90548355	110	14584											
GPR174	84636	broad.mit.edu	37	X	78427065	78427065	+	Silent	SNP	C	C	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:78427065C>A	uc004edg.1	+	0	597	c.561C>A	c.(559-561)acC>acA	p.T187T		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	187						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.T187fs*3(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTATGATGACCATTGGCGAGT	0.458										HNSCC(63;0.18)			A	78427065	C	A	78427065	2	1	211	1	0	0	0	0	0	0	0	1	6672	581	21	5		5	GPR174	23	78427065	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	13704860	78427065	76843495	111	14585											
BRWD3	254065	broad.mit.edu	37	X	79960260	79960260	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:79960260G>A	uc004edt.3	-	22	2901	c.2638C>T	c.(2638-2640)Cgt>Tgt	p.R880C	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.R709C|BRWD3_uc004edq.3_Missense_Mutation_p.R476C|BRWD3_uc010nmj.2_Missense_Mutation_p.R476C|BRWD3_uc004edr.3_Missense_Mutation_p.R550C|BRWD3_uc004eds.3_Missense_Mutation_p.R476C|BRWD3_uc004edo.3_Missense_Mutation_p.R476C|BRWD3_uc004edu.3_Missense_Mutation_p.R550C|BRWD3_uc004edv.3_Missense_Mutation_p.R476C|BRWD3_uc004edw.3_Missense_Mutation_p.R476C|BRWD3_uc004edx.3_Missense_Mutation_p.R476C|BRWD3_uc004edy.3_Missense_Mutation_p.R476C|BRWD3_uc004edz.3_Missense_Mutation_p.R550C|BRWD3_uc004eea.3_Missense_Mutation_p.R550C|BRWD3_uc004eeb.3_Missense_Mutation_p.R476C	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	880										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATATTTTACGTGTTGTCTGT	0.368													A	79960260	G	A	79960260	3	1	211	1	0	0	0	0	1	0	0	0	1526	1145	40	1	2846	1	BRWD3	23	79960260	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	1533195	79960260	75310300	112	14586											
NRK	203447	broad.mit.edu	37	X	105156744	105156744	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:105156744T>G	uc004emd.3	+	13	2649	c.2346T>G	c.(2344-2346)atT>atG	p.I782M	NRK_uc010npc.1_Missense_Mutation_p.I450M	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	782							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.I782fs*66(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTAAAAAAATTGAGGTAAATT	0.338										HNSCC(51;0.14)			G	105156744	T	G	105156744	3	3	211	1	0	0	0	0	1	0	0	0	10655	1800	63	5	2400	5	NRK	23	105156744	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	25196484	105156744	50113816	113	14587											
DOCK11	139818	broad.mit.edu	37	X	117748723	117748723	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:117748723delC	uc004eqp.2	+	28	3228	c.3165delC	c.(3163-3165)agcfs	p.S1055fs	DOCK11_uc004eqq.2_Frame_Shift_Del_p.S821fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1055					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGGATTCAGCCCCAAAGATC	0.343													-	117748723	C	-	117748723	7	5	211	1	0	1	0	1	0	0	0	0	4686	738	26	0	3279	0	DOCK11	23	117748723	Frame_Shift_Del	DEL	C	TCGA-28-5209-01A-01D-1486-08	12591979	117748723	37521837	114	14588											
MTMR1	8776	broad.mit.edu	37	X	149898608	149898608	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:149898608A>G	uc004feh.1	+	6	718	c.583A>G	c.(583-585)Aaa>Gaa	p.K195E	MTMR1_uc011mya.1_Missense_Mutation_p.K93E|MTMR1_uc004feg.1_Missense_Mutation_p.K187E|MTMR1_uc004fei.3_Missense_Mutation_p.K187E|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	187						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCTTATAAACAGGAAGA	0.383													G	149898608	A	G	149898608	3	3	211	1	0	0	0	0	1	0	0	0	9938	363	13	4	581	4	MTMR1	23	149898608	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	32149885	149898608	5371952	115	14589											
PLXNB3	5365	broad.mit.edu	37	X	153032873	153032873	+	Silent	SNP	G	G	A			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:153032873G>A	uc010nuk.2	+	3	931	c.660G>A	c.(658-660)tcG>tcA	p.S220S	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Silent_p.S197S|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	197	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			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)					GCAAGCTGTCGGCAGGGGTGC	0.716													A	153032873	G	A	153032873	2	1	211	1	0	0	0	0	0	0	0	1	12125	1103	39	2		2	PLXNB3	23	153032873	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	3134265	153032873	2237687	116	14590											
ABCA4	24	broad.mit.edu	37	1	94466600	94466600	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:94466600C>T	uc001dqh.3	-	45	6448	c.6344G>A	c.(6343-6345)aGc>aAc	p.S2115N		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2115	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGATGATGCTCACGATGAC	0.632													T	94466600	C	T	94466600	3	4	212	1	0	0	0	0	1	0	0	0	34	797	28	3	497	3	ABCA4	1	94466600	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		94466600	154784021	1	14591											
PPM1J	333926	broad.mit.edu	37	1	113252867	113252867	+	Missense_Mutation	SNP	C	C	T	rs113935705	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:113252867C>T	uc001ect.1	-	9	1463	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	RHOC_uc001ecq.1_5'Flank|RHOC_uc001ecr.1_5'Flank|RHOC_uc009wgk.1_5'Flank|PPM1J_uc009wgl.1_Intron|PPM1J_uc001ecs.1_Missense_Mutation_p.R273H	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	479	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGGAGACGCCAGCCACG	0.622													T	113252867	C	T	113252867	3	4	212	1	0	0	0	0	1	0	0	0	12342	536	19	1	85	1	PPM1J	1	113252867	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	18786267	113252867	135997754	2	14592											
TCHH	7062	broad.mit.edu	37	1	152082812	152082812	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:152082812G>A	uc009wne.1	-	2	3153	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	TCHH_uc001ezp.2_Missense_Mutation_p.R961W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	961	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ttatccttcCGATATTGCCTT	0.562													A	152082812	G	A	152082812	3	1	212	1	0	0	0	0	1	0	0	0	15697	1057	37	2	2954	2	TCHH	1	152082812	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	38829945	152082812	97167809	3	14593											
FLG	2312	broad.mit.edu	37	1	152278705	152278705	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:152278705C>T	uc001ezu.1	-	2	8693	c.8657G>A	c.(8656-8658)cGc>cAc	p.R2886H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2886	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GGATCCCTGGCGCCTGCTTCT	0.562									Ichthyosis				T	152278705	C	T	152278705	3	4	212	1	0	0	0	0	1	0	0	0	5922	768	27	1	3532	1	FLG	1	152278705	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	195893	152278705	96971916	4	14594											
USH2A	7399	broad.mit.edu	37	1	216595382	216595382	+	Silent	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:216595382G>A	uc001hku.1	-	1	684	c.297C>T	c.(295-297)gcC>gcT	p.A99A	USH2A_uc001hkv.3_Silent_p.A99A	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	99					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.A99V(2)		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)		CTGAGAAAAGGGCAGTGTAGG	0.453										HNSCC(13;0.011)			A	216595382	G	A	216595382	2	1	212	1	0	0	0	0	0	0	0	1	17033	1219	43	3		3	USH2A	1	216595382	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08	64316677	216595382	32655239	5	14595											
OR2G2	81470	broad.mit.edu	37	1	247752222	247752222	+	Silent	SNP	C	C	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:247752222C>A	uc010pyy.2	+	0	561	c.561C>A	c.(559-561)ctC>ctA	p.L187L		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			TCCCTGTGCTCATCAAGCTGG	0.537													A	247752222	C	A	247752222	2	1	212	1	0	0	0	0	0	0	0	1	10998	813	29	5		5	OR2G2	1	247752222	Silent	SNP	C	TCGA-28-5211-01C-11D-1845-08	31156840	247752222	1498399	6	14596											
DYSF	8291	broad.mit.edu	37	2	71886153	71886153	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:71886153C>G	uc010fen.3	+	43	5042	c.4901C>G	c.(4900-4902)cCc>cGc	p.P1634R	DYSF_uc010fei.3_Missense_Mutation_p.P1612R|DYSF_uc010feh.3_Missense_Mutation_p.P1602R|DYSF_uc002sig.4_Missense_Mutation_p.P1581R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1626R|DYSF_uc010fee.3_Missense_Mutation_p.P1616R|DYSF_uc010fef.3_Missense_Mutation_p.P1633R|DYSF_uc002sie.3_Missense_Mutation_p.P1595R|DYSF_uc010feo.3_Missense_Mutation_p.P1627R|DYSF_uc010fej.3_Missense_Mutation_p.P1603R|DYSF_uc010fel.3_Missense_Mutation_p.P1582R|DYSF_uc010fem.3_Missense_Mutation_p.P1617R|DYSF_uc002sif.3_Missense_Mutation_p.P1596R|DYSF_uc010fek.3_Missense_Mutation_p.P1613R|DYSF_uc010yqy.2_Missense_Mutation_p.P476R|DYSF_uc010yqz.2_Missense_Mutation_p.P356R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1595	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCAAGGACCCCAATGGAAAG	0.577													G	71886153	C	G	71886153	3	3	212	1	0	0	0	0	1	0	0	0	4859	623	22	5	5213	5	DYSF	2	71886153	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		71886153	171313220	7	14597											
FAM176A	84141	broad.mit.edu	37	2	75720533	75720533	+	Silent	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:75720533G>A	uc002sni.2	-	3	766	c.288C>T	c.(286-288)tcC>tcT	p.S96S	FAM176A_uc002snj.1_Silent_p.S83S|FAM176A_uc002snk.1_Silent_p.S96S	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	96					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		p.S96F(1)		endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						GTCTCCGCACGGAGAGATCGG	0.647													A	75720533	G	A	75720533	2	1	212	1	0	0	0	0	0	0	0	1	5499	1103	39	2		2	FAM176A	2	75720533	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08	3834380	75720533	167478840	8	14598											
NEB	4703	broad.mit.edu	37	2	152363440	152363440	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:152363440G>T	uc021vrb.1	-	133	18465	c.18436C>A	c.(18436-18438)Cag>Aag	p.Q6146K	NEB_uc002txr.3_Missense_Mutation_p.Q2612K|NEB_uc002txu.3_Missense_Mutation_p.Q7847K|NEB_uc021vrc.1_Missense_Mutation_p.Q7847K|NEB_uc010fnx.3_Missense_Mutation_p.Q6134K|NEB_uc021vrd.1_Missense_Mutation_p.Q6146K|RIF1_uc002txp.3_Intron|NEB_uc010zca.2_5'Flank|NEB_uc010zcb.2_5'UTR|NEB_uc002txt.4_Missense_Mutation_p.Q651K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6146					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATTCTTCTGATTTTCTTTT	0.318													T	152363440	G	T	152363440	3	4	212	1	0	0	0	0	1	0	0	0	10302	1299	45	5	2118	5	NEB	2	152363440	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	76642907	152363440	90835933	9	14599											
COL6A3	1293	broad.mit.edu	37	2	238275426	238275426	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:238275426C>T	uc002vwl.2	-	10	5689	c.5404G>A	c.(5404-5406)Gtc>Atc	p.V1802I	COL6A3_uc002vwo.2_Missense_Mutation_p.V1596I|COL6A3_uc010znj.1_Missense_Mutation_p.V1195I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1802	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		AGCTCCTGGACGTTGCCCACG	0.532													T	238275426	C	T	238275426	3	4	212	1	0	0	0	0	1	0	0	0	3701	536	19	1	4265	1	COL6A3	2	238275426	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	85911986	238275426	4923947	10	14600											
TRAIP	10293	broad.mit.edu	37	3	49869443	49869443	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr3:49869443C>A	uc003cxs.1	-	10	1049	c.943G>T	c.(943-945)Gat>Tat	p.D315Y	TRAIP_uc010hla.1_Missense_Mutation_p.D216Y	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	315	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCATTGAGATCAATATCATCA	0.542													A	49869443	C	A	49869443	3	1	212	1	0	0	0	0	1	0	0	0	16445	826	29	5	486	5	TRAIP	3	49869443	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		49869443	148152987	11	14601											
TLR6	10333	broad.mit.edu	37	4	38830190	38830190	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr4:38830190G>A	uc010ifg.2	-	1	1026	c.905C>T	c.(904-906)aCg>aTg	p.T302M	TLR6_uc003gtm.3_Missense_Mutation_p.T302M	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	302					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCAATGTCGTTTTAGAATA	0.323													A	38830190	G	A	38830190	3	1	212	1	0	0	0	0	1	0	0	0	15952	1145	40	1	1489	1	TLR6	4	38830190	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		38830190	152324086	12	14602											
TNIP3	79931	broad.mit.edu	37	4	122085228	122085228	+	Missense_Mutation	SNP	G	G	A	rs144762502	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr4:122085228G>A	uc021xrj.1	-	3	363	c.284C>T	c.(283-285)aCg>aTg	p.T95M	TNIP3_uc010ing.3_Missense_Mutation_p.T18M|TNIP3_uc011cgj.2_Missense_Mutation_p.T88M|TNIP3_uc010ini.3_Missense_Mutation_p.T18M	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	18								p.T18M(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTTATGCTCCGTAGAACTTTC	0.398													A	122085228	G	A	122085228	3	1	212	1	0	0	0	0	1	0	0	0	16313	1145	40	1	968	1	TNIP3	4	122085228	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	83255038	122085228	69069048	13	14603											
HCN1	348980	broad.mit.edu	37	5	45695952	45695952	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr5:45695952C>T	uc003jok.3	-	0	269	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	82						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.F81I(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGGCGTCTTCGAAGCCCCCC	0.711													T	45695952	C	T	45695952	3	4	212	1	0	0	0	0	1	0	0	0	6996	893	31	2	2460	2	HCN1	5	45695952	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		45695952	135219308	14	14604											
ZNF366	167465	broad.mit.edu	37	5	71757119	71757120	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr5:71757119_71757120CG>AT	uc003kce.1	-	1	390_391	c.204_205CG>AT	c.(202-207)cccggg>ccATgg	p.G69W		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCGAAGACCCCGGGGAACCCAT	0.584													AT	71757120	CG	AT	71757119	3	1	212	1	0	0	0	0	1	0	0	0	17867	652	23	5	2045	5	ZNF366	5	71757119	Missense_Mutation	DNP	CG	TCGA-28-5211-01C-11D-1845-08	26061167	71757119	109158141	15	14605											
E2F3	1871	broad.mit.edu	37	6	20402625	20402625	+	Silent	SNP	G	G	C			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:20402625G>C	uc003nda.2	+	0	489	c.162G>C	c.(160-162)ccG>ccC	p.P54P	E2F3_uc003ncz.2_Silent_p.P54P|E2F3_uc021ymj.1_5'Flank	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	54					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccCCGGGCGCGTACA	0.731													C	20402625	G	C	20402625	2	2	212	1	0	0	0	0	0	0	0	1	4868	1103	39	5		5	E2F3	6	20402625	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08		20402625	150712442	16	14606											
LAMA2	3908	broad.mit.edu	37	6	129802525	129802525	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:129802525C>G	uc021zfb.1	+	54	7795	c.7690C>G	c.(7690-7692)Ctt>Gtt	p.L2564V	LAMA2_uc003qbn.3_Missense_Mutation_p.L2562V|LAMA2_uc003qbo.3_Missense_Mutation_p.L2558V|BC035400_uc003qbq.3_Non-coding_Transcript	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2564	Laminin G-like 3.		L -> P (in MDC1A).		cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGGCATCATTCTTTTGGGAAG	0.488													G	129802525	C	G	129802525	3	3	212	1	0	0	0	0	1	0	0	0	8606	913	32	5	7908	5	LAMA2	6	129802525	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	109399900	129802525	41312542	17	14607											
SYNE1	23345	broad.mit.edu	37	6	152861113	152861113	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:152861113G>C	uc021zhb.1	-	1	334	c.111C>G	c.(109-111)atC>atG	p.I37M	SYNE1_uc003qot.4_Missense_Mutation_p.I37M|SYNE1_uc003qou.4_Missense_Mutation_p.I37M|SYNE1_uc010kjb.1_Missense_Mutation_p.I37M|SYNE1_uc003qpa.1_Missense_Mutation_p.I37M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	37	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			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)		GATGAGAGTTGATCCATTTTG	0.338										HNSCC(10;0.0054)			C	152861113	G	C	152861113	3	2	212	1	0	0	0	0	1	0	0	0	15442	1280	45	5	26952	5	SYNE1	6	152861113	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	23058588	152861113	18253954	18	14608											
GRB10	2887	broad.mit.edu	37	7	50674041	50674041	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr7:50674041G>A	uc003tpi.2	-	10	1311	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	GRB10_uc003tph.3_Missense_Mutation_p.T364M|GRB10_uc003tpj.2_Missense_Mutation_p.T376M|GRB10_uc003tpk.2_Missense_Mutation_p.T422M|GRB10_uc010kzb.2_Missense_Mutation_p.T364M|GRB10_uc003tpl.2_Missense_Mutation_p.T416M|GRB10_uc003tpm.2_Missense_Mutation_p.T364M	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	422					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	p.T422M(2)|p.T416M(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TACCACTGGCGTCGAGAACGG	0.517									Russell-Silver syndrome				A	50674041	G	A	50674041	3	1	212	1	0	0	0	0	1	0	0	0	6756	1145	40	1	543	1	GRB10	7	50674041	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		50674041	108464622	19	14609											
DLC1	10395	broad.mit.edu	37	8	12957581	12957581	+	Silent	SNP	C	C	T	rs138749997	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr8:12957581C>T	uc003wwm.2	-	8	2709	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	DLC1_uc003wwk.1_Silent_p.T318T|DLC1_uc003wwl.1_Silent_p.T352T|DLC1_uc011kxx.1_Silent_p.T244T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	755					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGGGCTGGGCGTGCTGACCG	0.582													T	12957581	C	T	12957581	2	4	212	1	0	0	0	0	0	0	0	1	4550	755	27	1		1	DLC1	8	12957581	Silent	SNP	C	TCGA-28-5211-01C-11D-1845-08		12957581	133406441	20	14610											
SEMA4D	10507	broad.mit.edu	37	9	92003832	92003832	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:92003832G>T	uc004aqo.1	-	11	1477	c.905C>A	c.(904-906)cCg>cAg	p.P302Q	SEMA4D_uc011ltm.1_Missense_Mutation_p.P302Q|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Missense_Mutation_p.P302Q	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	302	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCAGGCCCGGGGACCTGAG	0.602													T	92003832	G	T	92003832	3	4	212	1	0	0	0	0	1	0	0	0	14034	1116	39	5	2281	5	SEMA4D	9	92003832	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		92003832	49209599	21	14611											
ST6GALNAC4	27090	broad.mit.edu	37	9	130670779	130670779	+	Silent	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:130670779C>T	uc004bss.3	-	5	1077	c.801G>A	c.(799-801)gaG>gaA	p.E267E	ST6GALNAC4_uc004bst.3_Silent_p.E183E	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	267					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGGGCGCCTGCTCGTGTGCCA	0.627													T	130670779	C	T	130670779	2	4	212	1	0	0	0	0	0	0	0	1	15225	796	28	3		3	ST6GALNAC4	9	130670779	Silent	SNP	C	TCGA-28-5211-01C-11D-1845-08	38666947	130670779	10542652	22	14612											
PKN3	29941	broad.mit.edu	37	9	131476566	131476566	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:131476566C>T	uc004bvw.3	+	10	1796	c.1403C>T	c.(1402-1404)cCg>cTg	p.P468L	PKN3_uc010myh.3_Missense_Mutation_p.P468L|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	468	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TGCAGCTCCCCGAGCACAATC	0.652													T	131476566	C	T	131476566	3	4	212	1	0	0	0	0	1	0	0	0	11981	652	23	2	1445	2	PKN3	9	131476566	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	805787	131476566	9736865	23	14613											
WDR11	55717	broad.mit.edu	37	10	122622305	122622305	+	Silent	SNP	A	A	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr10:122622305A>G	uc021pzt.1	+	4	831	c.585A>G	c.(583-585)tcA>tcG	p.S195S	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	195						integral to membrane		p.S195L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGCCTCCCTCAGGCCCTGGGA	0.443													G	122622305	A	G	122622305	2	3	212	1	0	0	0	0	0	0	0	1	17270	175	7	4		4	WDR11	10	122622305	Silent	SNP	A	TCGA-28-5211-01C-11D-1845-08		122622305	12912442	24	14614											
CDON	50937	broad.mit.edu	37	11	125853903	125853903	+	Frame_Shift_Del	DEL	C	C	-	rs139149075		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr11:125853903delC	uc009zbw.3	-	15	2987	c.2859delG	c.(2857-2859)gggfs	p.G953fs	CDON_uc001qdb.4_Frame_Shift_Del_p.G330fs|CDON_uc001qdc.4_Frame_Shift_Del_p.G953fs	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	953					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGGTTGCAGGCCCCACATTTC	0.463													-	125853903	C	-	125853903	7	5	212	1	0	1	0	1	0	0	0	0	3170	726	26	0	955	0	CDON	11	125853903	Frame_Shift_Del	DEL	C	TCGA-28-5211-01C-11D-1845-08		125853903	9152613	25	14615											
LRP1	4035	broad.mit.edu	37	12	57603612	57603612	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr12:57603612T>C	uc001snd.3	+	79	12866	c.12400T>C	c.(12400-12402)Tct>Cct	p.S4134P		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4134					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			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)	GAGCCACGCCTCTGACGTGGT	0.572													C	57603612	T	C	57603612	3	2	212	1	0	0	0	0	1	0	0	0	8951	1551	54	4	12718	4	LRP1	12	57603612	Missense_Mutation	SNP	T	TCGA-28-5211-01C-11D-1845-08		57603612	76248283	26	14616											
LUM	4060	broad.mit.edu	37	12	91498030	91498030	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr12:91498030C>T	uc001tbm.3	-	2	1318	c.929G>A	c.(928-930)cGt>cAt	p.R310H		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	310					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R310L(4)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GCCATCCAAACGCAAATGCTT	0.373													T	91498030	C	T	91498030	3	4	212	1	0	0	0	0	1	0	0	0	9085	536	19	1	91	1	LUM	12	91498030	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	33894418	91498030	42353865	27	14617											
SYNE2	23224	broad.mit.edu	37	14	64497733	64497733	+	Splice_Site	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr14:64497733G>A	uc001xgl.3	+	45	7110	c.6880_splice	c.e45-1	p.E2294_splice	SYNE2_uc001xgm.3_Splice_Site_p.E2294_splice|SYNE2_uc021ruh.1_Splice_Site_p.E2294_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2294					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			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)		TCCACTCGTAGGAACTAGAGA	0.353													A	64497733	G	A	64497733	5	1	212	1	0	0	0	0	0	0	1	0	15443	1014	35	3	7053	3	SYNE2	14	64497733	Splice_Site	SNP	G	TCGA-28-5211-01C-11D-1845-08		64497733	42851807	28	14618											
GJD2	57369	broad.mit.edu	37	15	35045227	35045227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:35045227G>A	uc001zis.1	-	1	418	c.418C>T	c.(418-420)Cga>Tga	p.R140*	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	140					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTATCTTCTCGTTTGCCCCCA	0.532													A	35045227	G	A	35045227	4	1	212	1	0	0	0	0	0	1	0	0	6417	1153	40	1	551	1	GJD2	15	35045227	Nonsense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		35045227	67486165	29	14619											
ADAMTSL3	57188	broad.mit.edu	37	15	84651232	84651232	+	Missense_Mutation	SNP	G	G	A	rs147113160		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:84651232G>A	uc002bjz.4	+	20	3076	c.2852G>A	c.(2851-2853)cGt>cAt	p.R951H	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R951H	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	951	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGATGGCCGTTGCCTGCAG	0.532													A	84651232	G	A	84651232	3	1	212	1	0	0	0	0	1	0	0	0	276	1145	40	1	2930	1	ADAMTSL3	15	84651232	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	49606005	84651232	17880160	30	14620											
MCTP2	55784	broad.mit.edu	37	15	94943189	94943189	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:94943189C>T	uc002btj.3	+	14	1995	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	MCTP2_uc010boj.3_Missense_Mutation_p.R373C|MCTP2_uc010bok.3_Missense_Mutation_p.R644C|MCTP2_uc002btk.4_Missense_Mutation_p.R232C|MCTP2_uc002btl.3_Missense_Mutation_p.R232C	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	644					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCGGGAAAAGCGCTTTGTTGA	0.458													T	94943189	C	T	94943189	3	4	212	1	0	0	0	0	1	0	0	0	9401	768	27	1	1988	1	MCTP2	15	94943189	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	10291957	94943189	7588203	31	14621											
ABCC6	368	broad.mit.edu	37	16	16272807	16272807	+	Missense_Mutation	SNP	C	C	T	rs72653787		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr16:16272807C>T	uc002den.4	-	17	2300	c.2263G>A	c.(2263-2265)Gga>Aga	p.G755R	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	755	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TTCTGGCCTCCGGAGAGATTC	0.627													T	16272807	C	T	16272807	3	4	212	1	0	0	0	0	1	0	0	0	57	661	23	2	2304	2	ABCC6	16	16272807	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		16272807	74081946	32	14622											
C16orf93	90835	broad.mit.edu	37	16	30770347	30770347	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr16:30770347G>C	uc002dzm.3	-	7	1299	c.803C>G	c.(802-804)cCa>cGa	p.P268R	PHKG2_uc021tgo.1_Intron|PHKG2_uc002dzk.2_3'UTR|C16orf93_uc002dzo.3_Missense_Mutation_p.P231R|C16orf93_uc021tgp.1_Silent_p.T154T|RNF40_uc010caa.3_5'Flank|RNF40_uc002dzq.3_5'Flank|RNF40_uc010cab.3_5'Flank|RNF40_uc010vfa.2_5'Flank	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	Homo sapiens chromosome 16 open reading frame 93 (C16orf93), transcript variant 1, mRNA.	268										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTCTGGCTCTGGTGGGGCCAC	0.537													C	30770347	G	C	30770347	3	2	212	1	0	0	0	0	1	0	0	0	1846	1348	47	5	200	5	C16orf93	16	30770347	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	14497540	30770347	59584406	33	14623											
MYH10	4628	broad.mit.edu	37	17	8390908	8390908	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:8390908C>A	uc002glm.3	-	35	4985	c.4889G>T	c.(4888-4890)cGg>cTg	p.R1630L	MYH10_uc002gll.3_Missense_Mutation_p.R1599L|MYH10_uc010cnx.3_Missense_Mutation_p.R1608L	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1599					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	p.E1630K(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCGAGCTCCCGCACCTAATG	0.542													A	8390908	C	A	8390908	3	1	212	1	0	0	0	0	1	0	0	0	10030	652	23	5	1166	5	MYH10	17	8390908	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		8390908	72804302	34	14624											
GLP2R	9340	broad.mit.edu	37	17	9792806	9792806	+	Silent	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:9792806G>A	uc002gmd.1	+	12	1446	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	482					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.L481L(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AGAAGCTCTCGGAAGGAGATG	0.597													A	9792806	G	A	9792806	2	1	212	1	0	0	0	0	0	0	0	1	6453	1103	39	2		2	GLP2R	17	9792806	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08	1401898	9792806	71402404	35	14625											
KRT35	3886	broad.mit.edu	37	17	39633981	39633981	+	Silent	SNP	A	A	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:39633981A>G	uc002hws.3	-	5	1052	c.1009T>C	c.(1009-1011)Ttg>Ctg	p.L337L		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	337	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GTGGATTCCAAAGCATCTCTC	0.577													G	39633981	A	G	39633981	2	3	212	1	0	0	0	0	0	0	0	1	8472	11	1	4		4	KRT35	17	39633981	Silent	SNP	A	TCGA-28-5211-01C-11D-1845-08	29841175	39633981	41561229	36	14626											
ENGASE	64772	broad.mit.edu	37	17	77073856	77073856	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:77073856A>G	uc002jwv.3	+	2	334	c.326A>G	c.(325-327)gAg>gGg	p.E109G	ENGASE_uc002jwu.1_Missense_Mutation_p.E109G|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	109						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GTGGCCCTGGAGCCCCTGGCG	0.592													G	77073856	A	G	77073856	3	3	212	1	0	0	0	0	1	0	0	0	5118	304	11	4	336	4	ENGASE	17	77073856	Missense_Mutation	SNP	A	TCGA-28-5211-01C-11D-1845-08	37439875	77073856	4121354	37	14627											
SLC1A6	6511	broad.mit.edu	37	19	15067457	15067457	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr19:15067457C>T	uc002naa.1	-	5	1007	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.V270I	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	334					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V334I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCCCCCAGGACGGCCATGTCT	0.582													T	15067457	C	T	15067457	3	4	212	1	0	0	0	0	1	0	0	0	14436	536	19	1	710	1	SLC1A6	19	15067457	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		15067457	44061526	38	14628											
PTPRH	5794	broad.mit.edu	37	19	55698964	55698964	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr19:55698964G>A	uc002qjq.3	-	13	2556	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F	PTPRH_uc010esv.3_Missense_Mutation_p.S650F|BC034929_uc002qjr.3_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	828	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		GCCCACCAGGGAGAGTTGCTG	0.587													A	55698964	G	A	55698964	3	1	212	1	0	0	0	0	1	0	0	0	12803	1174	41	3	892	3	PTPRH	19	55698964	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	40631507	55698964	3430019	39	14629											
ARHGAP6	395	broad.mit.edu	37	X	11682473	11682473	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chrX:11682473G>A	uc004cup.1	-	0	1349	c.476C>T	c.(475-477)tCc>tTc	p.S159F	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.S159F	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	159					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCCTCCCCCGGATGAACAGAG	0.657													A	11682473	G	A	11682473	3	1	212	1	0	0	0	0	1	0	0	0	887	1174	41	3	2622	3	ARHGAP6	23	11682473	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		11682473	143588087	40	14630											
MAGEC2	51438	broad.mit.edu	37	X	141291609	141291609	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chrX:141291609G>T	uc022cfj.1	-	0	165	c.165C>A	c.(163-165)ttC>ttA	p.F55L	MAGEC2_uc004fbu.2_Missense_Mutation_p.F55L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	55	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATGTGGAGAAAGAAGAGG	0.512										HNSCC(46;0.14)			T	141291609	G	T	141291609	3	4	212	1	0	0	0	0	1	0	0	0	9181	933	33	5	960	5	MAGEC2	23	141291609	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	129609136	141291609	13978951	41	14631											
TAS1R1	80835	broad.mit.edu	37	1	6634905	6634905	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:6634905G>A	uc001ant.3	+	2	809	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.C160Y	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	238					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGGATCTGCATTGCTTTC	0.622													A	6634905	G	A	6634905	3	1	213	1	0	0	0	0	1	0	0	0	15559	1319	46	3	723	3	TAS1R1	1	6634905	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		6634905	242615716	1	14632											
KLHDC7A	127707	broad.mit.edu	37	1	18808936	18808936	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:18808936G>A	uc001bax.3	+	0	1513	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R	KLHDC7A_uc009vpg.3_Silent_p.R269R	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	487						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGCGCCGGCTCCGGGGCC	0.662													A	18808936	G	A	18808936	2	1	213	1	0	0	0	0	0	0	0	1	8360	1190	42	3		3	KLHDC7A	1	18808936	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	12174031	18808936	230441685	2	14633											
RSPO1	284654	broad.mit.edu	37	1	38079485	38079485	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:38079485G>A	uc001cbl.2	-	6	1408	c.516C>T	c.(514-516)tcC>tcT	p.S172S	RSPO1_uc009vvf.2_Silent_p.S145S|RSPO1_uc001cbm.2_Silent_p.S172S|RSPO1_uc009vvg.2_Intron	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	172	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCGCTCCTCGGAGCCCCTCC	0.632													A	38079485	G	A	38079485	2	1	213	1	0	0	0	0	0	0	0	1	13709	1103	39	2		2	RSPO1	1	38079485	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	19270549	38079485	211171136	3	14634											
MACF1	23499	broad.mit.edu	37	1	39799225	39799225	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:39799225C>T	uc021olw.1	+	0	2285	c.2285C>T	c.(2284-2286)gCc>gTc	p.A762V	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2327					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			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)			AGTCACACTGCCGTGAAGCTT	0.423													T	39799225	C	T	39799225	3	4	213	1	0	0	0	0	1	0	0	0	9144	739	26	3	7056	3	MACF1	1	39799225	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	1719740	39799225	209451396	4	14635											
C1orf177	163747	broad.mit.edu	37	1	55273665	55273665	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:55273665G>A	uc001cyb.4	+	3	515	c.461G>A	c.(460-462)cGc>cAc	p.R154H	C1orf177_uc001cya.4_Missense_Mutation_p.R154H	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	154										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGGGAGGTTCGCTTCCGAGGA	0.552													A	55273665	G	A	55273665	3	1	213	1	0	0	0	0	1	0	0	0	2017	1087	38	1	475	1	C1orf177	1	55273665	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	15474440	55273665	193976956	5	14636											
INADL	10207	broad.mit.edu	37	1	62253476	62253476	+	Silent	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:62253476C>T	uc001dab.3	+	7	1014	c.900C>T	c.(898-900)aaC>aaT	p.N300N	INADL_uc009waf.1_Silent_p.N300N|INADL_uc001daa.2_Silent_p.N300N|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	300	PDZ 2.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTGGCACAAACGTGCAGGGAA	0.438													T	62253476	C	T	62253476	2	4	213	1	0	0	0	0	0	0	0	1	7731	535	19	1		1	INADL	1	62253476	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	6979811	62253476	186997145	6	14637											
TRIM45	80263	broad.mit.edu	37	1	117663350	117663350	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:117663350G>A	uc001egz.2	-	0	1062	c.474C>T	c.(472-474)tgC>tgT	p.C158C	TRIM45_uc009whe.2_Silent_p.C158C	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	158						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GAGCCTGGCAGCAGAAGTGGC	0.527													A	117663350	G	A	117663350	2	1	213	1	0	0	0	0	0	0	0	1	16517	963	34	3		3	TRIM45	1	117663350	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	55409874	117663350	131587271	7	14638											
TCHH	7062	broad.mit.edu	37	1	152083970	152083970	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:152083970G>A	uc009wne.1	-	2	1995	c.1723C>T	c.(1723-1725)Cgc>Tgc	p.R575C	TCHH_uc001ezp.2_Missense_Mutation_p.R575C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	575	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGATCGCGCCTCTCCTCC	0.677													A	152083970	G	A	152083970	3	1	213	1	0	0	0	0	1	0	0	0	15697	1087	38	1	4112	1	TCHH	1	152083970	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	34420620	152083970	97166651	8	14639											
SPTA1	6708	broad.mit.edu	37	1	158606471	158606471	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:158606471C>T	uc001fst.1	-	36	5469	c.5270G>A	c.(5269-5271)cGc>cAc	p.R1757H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1757					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1757C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCCTCTAGGCGTTTGTGCTT	0.473													T	158606471	C	T	158606471	3	4	213	1	0	0	0	0	1	0	0	0	15115	768	27	1	2053	1	SPTA1	1	158606471	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	6522501	158606471	90644150	9	14640											
PYHIN1	149628	broad.mit.edu	37	1	158906881	158906881	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:158906881G>A	uc001ftb.3	+	1	431	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	PYHIN1_uc001fta.4_Missense_Mutation_p.G61S|PYHIN1_uc001ftc.3_Missense_Mutation_p.G61S|PYHIN1_uc001ftd.3_Missense_Mutation_p.G61S|PYHIN1_uc001fte.3_Missense_Mutation_p.G61S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	61	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGGTGATGCCGGTTTGGGCAA	0.368													A	158906881	G	A	158906881	3	1	213	1	0	0	0	0	1	0	0	0	12865	1116	39	2	183	2	PYHIN1	1	158906881	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	300410	158906881	90343740	10	14641											
IGFN1	91156	broad.mit.edu	37	1	201195009	201195009	+	Missense_Mutation	SNP	C	C	T	rs145852390		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:201195009C>T	uc001gwc.3	+	21	10674	c.10544C>T	c.(10543-10545)aCg>aTg	p.T3515M	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGACGGTGACGGCCGAGTGG	0.687													T	201195009	C	T	201195009	3	4	213	1	0	0	0	0	1	0	0	0	7590	536	19	1	10626	1	IGFN1	1	201195009	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	42288128	201195009	48055612	11	14642											
OR2T33	391195	broad.mit.edu	37	1	248436203	248436203	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:248436203G>A	uc010pzi.2	-	0	914	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GTTTACACACGTCCCCAGCCA	0.423													A	248436203	G	A	248436203	3	1	213	1	0	0	0	0	1	0	0	0	11024	1145	40	1	51	1	OR2T33	1	248436203	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	47241194	248436203	814418	12	14643											
CCDC85A	114800	broad.mit.edu	37	2	56603032	56603032	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:56603032C>T	uc002rzn.3	+	4	2036	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	512								p.P512A(2)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATGCCACACCTTCCCAGCA	0.473													T	56603032	C	T	56603032	3	4	213	1	0	0	0	0	1	0	0	0	2859	507	18	3	1552	3	CCDC85A	2	56603032	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		56603032	186596341	13	14644											
POLR1B	84172	broad.mit.edu	37	2	113315616	113315616	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:113315616T>C	uc002thw.2	+	7	1868	c.1288T>C	c.(1288-1290)Ttt>Ctt	p.F430L	POLR1B_uc010fkn.2_Missense_Mutation_p.F374L|POLR1B_uc002thx.2_Missense_Mutation_p.F291L|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.F291L|POLR1B_uc010yxo.1_Missense_Mutation_p.F207L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	430					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TACAAAACCATTTGAATACCT	0.328													C	113315616	T	C	113315616	3	2	213	1	0	0	0	0	1	0	0	0	12210	1493	52	4	1318	4	POLR1B	2	113315616	Missense_Mutation	SNP	T	TCGA-28-5213-01A-01D-1486-08	56712584	113315616	129883757	14	14645											
TTN	7273	broad.mit.edu	37	2	179410767	179410767	+	Silent	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:179410767C>T	uc021vsy.1	-	291	87717	c.87492G>A	c.(87490-87492)ccG>ccA	p.P29164P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P22859P|TTN_uc021vta.1_Silent_p.P22792P|TTN_uc021vtb.1_Silent_p.P22667P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30091	Fibronectin type-III 112.						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)			CGTCTTCCTGCGGAAGGCTCC	0.527													T	179410767	C	T	179410767	2	4	213	1	0	0	0	0	0	0	0	1	16732	755	27	1		1	TTN	2	179410767	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	66095151	179410767	63788606	15	14646											
CRYGC	1420	broad.mit.edu	37	2	208993026	208993026	+	Silent	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:208993026C>T	uc002vco.4	-	2	464	c.426G>A	c.(424-426)cgG>cgA	p.R142R	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	142	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCAGGTATTGCCGCCCCCGGT	0.622													T	208993026	C	T	208993026	2	4	213	1	0	0	0	0	0	0	0	1	3916	726	26	3		3	CRYGC	2	208993026	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	29582259	208993026	34206347	16	14647											
PNKD	25953	broad.mit.edu	37	2	219206751	219206751	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:219206751G>A	uc002vhn.3	+	6	809	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	PNKD_uc002vhq.3_Missense_Mutation_p.R198Q	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	222						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.I221M(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCAGATCCGGGCCCTGGCT	0.597													A	219206751	G	A	219206751	3	1	213	1	0	0	0	0	1	0	0	0	12146	1116	39	2	1056	2	PNKD	2	219206751	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	10213725	219206751	23992622	17	14648											
SGOL1	151648	broad.mit.edu	37	3	20225255	20225255	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:20225255T>C	uc003cbu.3	-	2	339	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	SGOL1_uc003cbw.3_Missense_Mutation_p.K62E|SGOL1_uc003cbv.3_Missense_Mutation_p.K62E|SGOL1_uc003cbt.3_Missense_Mutation_p.K62E|SGOL1_uc010hfa.3_Missense_Mutation_p.K62E|SGOL1_uc003cbs.3_Missense_Mutation_p.K62E|SGOL1_uc003cbr.3_Missense_Mutation_p.K62E|SGOL1_uc003ccc.3_Missense_Mutation_p.K62E|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Missense_Mutation_p.K62E|SGOL1_uc003cca.3_Missense_Mutation_p.K62E|SGOL1_uc003cby.3_Missense_Mutation_p.K62E|SGOL1_uc003cbx.3_Missense_Mutation_p.K62E|SGOL1_uc003cbz.3_Missense_Mutation_p.K62E	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	62	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ACTAACATTTTGTTGTTGTCT	0.294													C	20225255	T	C	20225255	3	2	213	1	0	0	0	0	1	0	0	0	14216	1821	63	4	1549	4	SGOL1	3	20225255	Missense_Mutation	SNP	T	TCGA-28-5213-01A-01D-1486-08		20225255	177797175	18	14649											
MAPKAPK3	7867	broad.mit.edu	37	3	50655078	50655078	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:50655078C>T	uc003day.2	+	3	724	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S	MAPKAPK3_uc003daz.2_Missense_Mutation_p.P28S|MAPKAPK3_uc003dba.2_Missense_Mutation_p.P28S|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.P28S	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	28			P -> S (in a glioblastoma multiforme sample; somatic mutation).		activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.P28S(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGGCGGTGCTCCGGGGGGGCG	0.697													T	50655078	C	T	50655078	3	4	213	1	0	0	0	0	1	0	0	0	9290	855	30	3	84	3	MAPKAPK3	3	50655078	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	30429823	50655078	147367352	19	14650											
CASR	846	broad.mit.edu	37	3	122003457	122003457	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:122003457C>T	uc003eew.4	+	6	3124	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	CASR_uc003eev.4_Missense_Mutation_p.R886W	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	886	Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGTGGCTGCCCGGGCCACGCT	0.612													T	122003457	C	T	122003457	3	4	213	1	0	0	0	0	1	0	0	0	2682	643	23	2	2708	2	CASR	3	122003457	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	71348379	122003457	76018973	20	14651											
GHSR	2693	broad.mit.edu	37	3	172165482	172165482	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:172165482C>T	uc003fib.2	-	0	765	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	GHSR_uc011bpv.2_Missense_Mutation_p.R241Q	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	241					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCGCCTCCTCCGCCACAGCTT	0.602													T	172165482	C	T	172165482	3	4	213	1	0	0	0	0	1	0	0	0	6375	652	23	2	460	2	GHSR	3	172165482	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	50162025	172165482	25856948	21	14652											
WDFY3	23001	broad.mit.edu	37	4	85634313	85634313	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr4:85634313C>T	uc003hpd.3	-	51	8450	c.8042_splice	c.e51+1	p.G2681_splice	WDFY3_uc003hpe.1_Splice_Site_p.G292_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2681						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCACCTACCCCTGCTCCACA	0.398													T	85634313	C	T	85634313	3	4	213	1	0	0	0	0	1	0	0	0	17267	637	22	3	2611	3	WDFY3	4	85634313	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		85634313	105519963	22	14653											
SLCO6A1	133482	broad.mit.edu	37	5	101834365	101834365	+	Missense_Mutation	SNP	C	C	T	rs144293843		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr5:101834365C>T	uc003knn.3	-	0	356	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	SLCO6A1_uc003kno.3_Missense_Mutation_p.G62S|SLCO6A1_uc003knp.3_Missense_Mutation_p.G62S|SLCO6A1_uc003knq.3_Missense_Mutation_p.G62S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	62						integral to membrane|plasma membrane	transporter activity	p.G62A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGGAAACCGCCGAACCTTATC	0.537													T	101834365	C	T	101834365	3	4	213	1	0	0	0	0	1	0	0	0	14732	652	23	2	2027	2	SLCO6A1	5	101834365	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		101834365	79080895	23	14654											
TFAP2B	7021	broad.mit.edu	37	6	50791291	50791291	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr6:50791291C>T	uc003pag.3	+	1	419	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	85	Gln/Pro-rich (transactivation domain).				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			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)					GAGCCAGGACCCCTACTCCCA	0.682													T	50791291	C	T	50791291	3	4	213	1	0	0	0	0	1	0	0	0	15785	623	22	3	259	3	TFAP2B	6	50791291	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		50791291	120323776	24	14655											
GJA10	84694	broad.mit.edu	37	6	90605129	90605129	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr6:90605129C>A	uc011eaa.2	+	0	942	c.942C>A	c.(940-942)gaC>gaA	p.D314E		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	314					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TTGAAGTAGACCCTTCCAATG	0.498													A	90605129	C	A	90605129	3	1	213	1	0	0	0	0	1	0	0	0	6401	506	18	5	944	5	GJA10	6	90605129	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	39813838	90605129	80509938	25	14656											
ADCY1	107	broad.mit.edu	37	7	45717835	45717835	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:45717835G>A	uc003tne.4	+	9	1889	c.1871G>A	c.(1870-1872)gGc>gAc	p.G624D		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	624					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCCTTATTTGGCCTTGTCTAC	0.493													A	45717835	G	A	45717835	3	1	213	1	0	0	0	0	1	0	0	0	292	1203	42	3	1909	3	ADCY1	7	45717835	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		45717835	113420828	26	14657											
SUN3	256979	broad.mit.edu	37	7	48056901	48056901	+	Silent	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:48056901A>G	uc003tof.3	-	3	343	c.246T>C	c.(244-246)taT>taC	p.Y82Y	SUN3_uc003tog.3_Silent_p.Y82Y|SUN3_uc011kcf.2_Silent_p.Y70Y	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	82						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAATTATGGCATATAATTGTC	0.299													G	48056901	A	G	48056901	2	3	213	1	0	0	0	0	0	0	0	1	15390	224	8	4		4	SUN3	7	48056901	Silent	SNP	A	TCGA-28-5213-01A-01D-1486-08	2339066	48056901	111081762	27	14658											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	213	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	7176142	55233043	103905620	28	14659											
TRPM3	80036	broad.mit.edu	37	9	73213424	73213424	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr9:73213424C>T	uc004aid.3	-	19	3167	c.2923G>A	c.(2923-2925)Gtg>Atg	p.V975M	TRPM3_uc004ahu.3_Missense_Mutation_p.V805M|TRPM3_uc004ahv.3_Missense_Mutation_p.V777M|TRPM3_uc004ahw.3_Missense_Mutation_p.V847M|TRPM3_uc004ahx.3_Missense_Mutation_p.V834M|TRPM3_uc004ahy.3_Missense_Mutation_p.V837M|TRPM3_uc004ahz.3_Missense_Mutation_p.V824M|TRPM3_uc004aia.3_Missense_Mutation_p.V822M|TRPM3_uc004aib.3_Missense_Mutation_p.V812M|TRPM3_uc004aic.3_Missense_Mutation_p.V975M	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1000						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGATGTTCACGCAGTAGATG	0.483													T	73213424	C	T	73213424	3	4	213	1	0	0	0	0	1	0	0	0	16584	536	19	1	2224	1	TRPM3	9	73213424	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		73213424	68000007	29	14660											
ERP44	23071	broad.mit.edu	37	9	102784454	102784454	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr9:102784454C>T	uc004bam.3	-	4	549	c.341G>A	c.(340-342)cGt>cAt	p.R114H	ERP44_uc010msy.3_Non-coding_Transcript	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	Homo sapiens endoplasmic reticulum protein 44 (ERP44), mRNA.	114	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CATCCCATTACGAAACAATTT	0.393													T	102784454	C	T	102784454	3	4	213	1	0	0	0	0	1	0	0	0	5243	536	19	1	911	1	ERP44	9	102784454	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	29571030	102784454	38428977	30	14661											
NEBL	10529	broad.mit.edu	37	10	21120216	21120216	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr10:21120216A>G	uc001iqi.3	-	15	1977	c.1580T>C	c.(1579-1581)tTa>tCa	p.L527S	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	527					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCATTTTCTAAGTCCTTCTT	0.353													G	21120216	A	G	21120216	3	3	213	1	0	0	0	0	1	0	0	0	10303	372	13	4	1516	4	NEBL	10	21120216	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08		21120216	114414531	31	14662											
ADAM12	8038	broad.mit.edu	37	10	127755335	127755335	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr10:127755335A>G	uc001ljk.2	-	12	1786	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	ADAM12_uc010qul.1_Missense_Mutation_p.L409P|ADAM12_uc001ljm.3_Missense_Mutation_p.L458P|ADAM12_uc001ljn.3_Missense_Mutation_p.L455P|ADAM12_uc001ljl.4_Missense_Mutation_p.L455P	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	458	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCCGGCTTCAGGGTACAGGT	0.547													G	127755335	A	G	127755335	3	3	213	1	0	0	0	0	1	0	0	0	236	188	7	4	1508	4	ADAM12	10	127755335	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08	106635119	127755335	7779412	32	14663											
MICAL2	9645	broad.mit.edu	37	11	12278418	12278418	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:12278418G>A	uc001mjz.3	+	23	3330	c.3042G>A	c.(3040-3042)cgG>cgA	p.R1014R	MICAL2_uc010rch.1_Silent_p.R824R|MICAL2_uc001mka.3_Silent_p.R1014R|MICAL2_uc010rci.2_Silent_p.R993R|MICAL2_uc001mkb.3_Silent_p.R788R|MICAL2_uc001mkc.3_Silent_p.R767R|MICAL2_uc001mkd.3_Silent_p.R596R|MICAL2_uc010rcj.2_Silent_p.R226R|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	1014	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.R1014R(2)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGATGGAACGGCTGAGCGCCG	0.572													A	12278418	G	A	12278418	2	1	213	1	0	0	0	0	0	0	0	1	9570	1190	42	3		3	MICAL2	11	12278418	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08		12278418	122728098	33	14664											
AHNAK	79026	broad.mit.edu	37	11	62288237	62288237	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:62288237G>A	uc001ntl.3	-	4	13952	c.13652C>T	c.(13651-13653)cCc>cTc	p.P4551L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4551					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACTTTGGGACCTTTCAG	0.423													A	62288237	G	A	62288237	3	1	213	1	0	0	0	0	1	0	0	0	414	1232	43	3	4140	3	AHNAK	11	62288237	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	50009819	62288237	72718279	34	14665											
GANAB	23193	broad.mit.edu	37	11	62396739	62396739	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:62396739G>A	uc001nua.3	-	16	1962	c.1929C>T	c.(1927-1929)gcC>gcT	p.A643A	GANAB_uc001nub.3_Silent_p.A621A|GANAB_uc001nuc.3_Silent_p.A524A|GANAB_uc010rma.2_Silent_p.A529A|GANAB_uc010rmb.2_Silent_p.A507A	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	621					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGTCCCACTCGGCAGTGTTGT	0.527													A	62396739	G	A	62396739	2	1	213	1	0	0	0	0	0	0	0	1	6233	1103	39	2		2	GANAB	11	62396739	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	108502	62396739	72609777	35	14666											
MUS81	80198	broad.mit.edu	37	11	65628471	65628471	+	Silent	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:65628471C>T	uc001ofv.4	+	1	516	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	CFL1_uc001ofs.3_5'Flank|CFL1_uc001oft.3_5'Flank|MUS81_uc001ofx.4_5'Flank	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	55					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ACGGTACCCACTGCCGCTGCG	0.682								Homologous recombination					T	65628471	C	T	65628471	2	4	213	1	0	0	0	0	0	0	0	1	9988	564	20	3		3	MUS81	11	65628471	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	3231732	65628471	69378045	36	14667											
OR2AT4	341152	broad.mit.edu	37	11	74800717	74800717	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:74800717G>A	uc010rro.2	-	0	42	c.42C>T	c.(40-42)ccC>ccT	p.P14P		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GATAGAAGACGGGTGAGCCAT	0.478													A	74800717	G	A	74800717	2	1	213	1	0	0	0	0	0	0	0	1	10987	1103	39	2		2	OR2AT4	11	74800717	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	9172246	74800717	60205799	37	14668											
MLL	4297	broad.mit.edu	37	11	118375649	118375649	+	Silent	SNP	A	A	C			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:118375649A>C	uc001pta.3	+	26	9056	c.9033A>C	c.(9031-9033)tcA>tcC	p.S3011S	MLL_uc001ptb.3_Silent_p.S3014S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3011					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTTGTGGTTCAGTAGAGCAAG	0.502			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								C	118375649	A	C	118375649	2	2	213	1	0	0	0	0	0	0	0	1	9620	175	7	5		5	MLL	11	118375649	Silent	SNP	A	TCGA-28-5213-01A-01D-1486-08	43574932	118375649	16630867	38	14669											
C12orf35	55196	broad.mit.edu	37	12	32137685	32137685	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:32137685A>C	uc001rks.3	+	3	4210	c.3796A>C	c.(3796-3798)Agc>Cgc	p.S1266R		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1266										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AAAACATAAAAGCTTACCAAG	0.348													C	32137685	A	C	32137685	3	2	213	1	0	0	0	0	1	0	0	0	1682	72	3	5	3798	5	C12orf35	12	32137685	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08		32137685	101714210	39	14670											
LRP1	4035	broad.mit.edu	37	12	57562923	57562923	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:57562923A>G	uc001snd.3	+	20	3462	c.2996_splice	c.e20-1	p.D999_splice	LRP1_uc009zpi.1_Splice_Site	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	999	LDL-receptor class A 6.				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			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)	CCACCGCCAGACAATGACTGT	0.627													G	57562923	A	G	57562923	3	3	213	1	0	0	0	0	1	0	0	0	8951	289	10	4	3074	4	LRP1	12	57562923	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08	25425238	57562923	76288972	40	14671											
UBE3B	89910	broad.mit.edu	37	12	109921388	109921388	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:109921388G>A	uc001top.3	+	2	635	c.32G>A	c.(31-33)tGg>tAg	p.W11*	UBE3B_uc001toq.3_Nonsense_Mutation_p.W11*|UBE3B_uc001tom.3_Nonsense_Mutation_p.W11*|UBE3B_uc001ton.3_Nonsense_Mutation_p.W11*|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tor.3_Nonsense_Mutation_p.W11*	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	11					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCGAGAGCATGGTTCATCGAT	0.512													A	109921388	G	A	109921388	4	1	213	1	0	0	0	0	0	1	0	0	16877	1357	47	3	34	3	UBE3B	12	109921388	Nonsense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	52358465	109921388	23930507	41	14672											
KDM2B	84678	broad.mit.edu	37	12	121880495	121880495	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:121880495C>T	uc001uat.3	-	18	2853	c.2749G>A	c.(2749-2751)Gcg>Acg	p.A917T	KDM2B_uc010szy.2_Missense_Mutation_p.A357T|KDM2B_uc001uaq.3_Missense_Mutation_p.A357T|KDM2B_uc001uar.3_Missense_Mutation_p.A508T|KDM2B_uc001uas.3_Missense_Mutation_p.A848T|KDM2B_uc021rfd.1_Missense_Mutation_p.A848T|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.A917T|KDM2B_uc001uao.3_Missense_Mutation_p.A165T|KDM2B_uc010szx.2_Missense_Mutation_p.A165T|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	917					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.D916N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGGGTCCCGCGGTGGGGGAG	0.692													T	121880495	C	T	121880495	3	4	213	1	0	0	0	0	1	0	0	0	8125	768	27	1	1333	1	KDM2B	12	121880495	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	11959107	121880495	11971400	42	14673											
SACS	26278	broad.mit.edu	37	13	23942617	23942617	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr13:23942617C>A	uc001uon.2	-	4	858	c.269G>T	c.(268-270)gGt>gTt	p.G90V	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	90					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGTTGTCTGACCAAATCGACC	0.393													A	23942617	C	A	23942617	3	1	213	1	0	0	0	0	1	0	0	0	13804	507	18	5	13494	5	SACS	13	23942617	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		23942617	91227261	43	14674											
ATL1	51062	broad.mit.edu	37	14	51027003	51027003	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr14:51027003A>G	uc021rsw.1	+	0	261	c.20A>G	c.(19-21)gAc>gGc	p.D7G	ATL1_uc001wyd.4_Missense_Mutation_p.D7G|ATL1_uc001wyf.4_Missense_Mutation_p.D7G|ATL1_uc001wye.4_Missense_Mutation_p.D7G|ATL1_uc021rsx.1_Missense_Mutation_p.D7G	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	7					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AACCGCAGGGACAGAAACAGT	0.632													G	51027003	A	G	51027003	3	3	213	1	0	0	0	0	1	0	0	0	1106	275	10	4	22	4	ATL1	14	51027003	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08		51027003	56322537	44	14675											
CLMN	79789	broad.mit.edu	37	14	95677204	95677204	+	Silent	SNP	C	C	T	rs139868659		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr14:95677204C>T	uc001yef.2	-	6	737	c.621G>A	c.(619-621)gcG>gcA	p.A207A		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	207	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGTCCTGCACCGCCACGCCAT	0.582													T	95677204	C	T	95677204	2	4	213	1	0	0	0	0	0	0	0	1	3542	639	23	2		2	CLMN	14	95677204	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	44650201	95677204	11672336	45	14676											
ATP10A	57194	broad.mit.edu	37	15	25953147	25953147	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr15:25953147G>A	uc010ayu.3	-	11	2657	c.2551C>T	c.(2551-2553)Ctg>Ttg	p.L851L		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	851					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R850C(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGGTCTCCAGGCGAATGGCA	0.537													A	25953147	G	A	25953147	2	1	213	1	0	0	0	0	0	0	0	1	1116	991	35	3		3	ATP10A	15	25953147	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08		25953147	76578245	46	14677											
SERINC4	619189	broad.mit.edu	37	15	44090144	44090144	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr15:44090144A>G	uc001zte.1	-	4	718	c.86T>C	c.(85-87)cTt>cCt	p.L29P	ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.3_Intron|SERINC4_uc001ztc.1_Non-coding_Transcript|SERINC4_uc010bds.1_Missense_Mutation_p.L29P|C15orf63_uc001ztf.3_5'Flank|C15orf63_uc021skf.1_5'Flank|C15orf63_uc001ztg.1_5'Flank	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	Homo sapiens serine incorporator 4 (SERINC4), mRNA.	272					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		AATGGGCAAAAGCTGTAATAA	0.463											OREG0003944	type=REGULATORY REGION|Gene=AK094716|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	44090144	A	G	44090144	3	3	213	1	0	0	0	0	1	0	0	0	14082	72	3	4	766	4	SERINC4	15	44090144	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08	18136997	44090144	58441248	47	14678											
GRIN2A	2903	broad.mit.edu	37	16	9857047	9857047	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:9857047G>A	uc010uym.2	-	13	4664	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	GRIN2A_uc002czo.4_Missense_Mutation_p.R1452C|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1452					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1452H(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGTACACGCGTCTATTGCTG	0.363													A	9857047	G	A	9857047	3	1	213	1	0	0	0	0	1	0	0	0	6779	1145	40	1	44	1	GRIN2A	16	9857047	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		9857047	80497706	48	14679											
GRIN2A	2903	broad.mit.edu	37	16	9934645	9934645	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:9934645G>A	uc010uym.2	-	7	1820	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	GRIN2A_uc002czo.4_Missense_Mutation_p.R504W|GRIN2A_uc010uyn.2_Missense_Mutation_p.R347W|GRIN2A_uc002czr.4_Missense_Mutation_p.R504W	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	504					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGACTGCCCGTTGATAGACC	0.453													A	9934645	G	A	9934645	3	1	213	1	0	0	0	0	1	0	0	0	6779	1144	40	1	2912	1	GRIN2A	16	9934645	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	77598	9934645	80420108	49	14680											
CDH15	1013	broad.mit.edu	37	16	89261354	89261354	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:89261354G>A	uc002fmt.3	+	13	2313	c.2236G>A	c.(2236-2238)Gcg>Acg	p.A746T		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	746					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGGCTCGGTGGCGGGGACGCT	0.637													A	89261354	G	A	89261354	3	1	213	1	0	0	0	0	1	0	0	0	3100	1203	42	3	2290	3	CDH15	16	89261354	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	79326709	89261354	1093399	50	14681											
PFAS	5198	broad.mit.edu	37	17	8158344	8158344	+	Splice_Site	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:8158344G>A	uc002gkr.3	+	4	420	c.279_splice	c.e4-1	p.R93_splice	PFAS_uc010vuv.2_Splice_Site	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	93					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCATTGTTCAGGCTGAACTTC	0.632													A	8158344	G	A	8158344	5	1	213	1	0	0	0	0	0	0	1	0	11754	1014	35	3	288	3	PFAS	17	8158344	Splice_Site	SNP	G	TCGA-28-5213-01A-01D-1486-08		8158344	73036866	51	14682											
NTN1	9423	broad.mit.edu	37	17	9066204	9066204	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:9066204G>A	uc002glw.4	+	2	1200	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R		NM_004822	NP_004813	O95631	NET1_HUMAN	Homo sapiens netrin 1 (NTN1), mRNA.	365	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GCGCAAGAGCGGAGGTGTCTG	0.627													A	9066204	G	A	9066204	3	1	213	1	0	0	0	0	1	0	0	0	10700	1117	39	2	1099	2	NTN1	17	9066204	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	907860	9066204	72129006	52	14683											
DGKE	8526	broad.mit.edu	37	17	54925329	54925329	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:54925329G>T	uc002iur.3	+	4	971	c.791G>T	c.(790-792)tGt>tTt	p.C264F	DGKE_uc002ius.1_Missense_Mutation_p.C264F	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	264	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CTACAACTCTGTACTCTTCTC	0.388													T	54925329	G	T	54925329	3	4	213	1	0	0	0	0	1	0	0	0	4468	1377	48	5	805	5	DGKE	17	54925329	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	45859125	54925329	26269881	53	14684											
MIDN	90007	broad.mit.edu	37	19	1257138	1257138	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:1257138G>A	uc002lrp.3	+	7	1789	c.1274G>A	c.(1273-1275)gGc>gAc	p.G425D		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	425						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CGCAAGGCCGGCCGCAGCGAC	0.697													A	1257138	G	A	1257138	3	1	213	1	0	0	0	0	1	0	0	0	9579	1203	42	3	1300	3	MIDN	19	1257138	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		1257138	57871845	54	14685											
FUT3	2525	broad.mit.edu	37	19	5844200	5844200	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:5844200G>A	uc002mdk.2	-	1	748	c.651C>T	c.(649-651)ctC>ctT	p.L217L	FUT3_uc002mdm.2_Silent_p.L217L|FUT3_uc002mdj.2_Silent_p.L217L|FUT3_uc002mdl.2_Silent_p.L217L|FUT3_uc021unn.1_Silent_p.L217L	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	217					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CGTCCACCTTGAGATGAGCCT	0.622													A	5844200	G	A	5844200	2	1	213	1	0	0	0	0	0	0	0	1	6105	1277	45	3		3	FUT3	19	5844200	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	4587062	5844200	53284783	55	14686											
RAB11B	9230	broad.mit.edu	37	19	8464851	8464851	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:8464851G>T	uc002mju.4	+	1	241	c.145G>T	c.(145-147)Gcc>Tcc	p.A49S	RAB11B_uc021uof.1_5'Flank	NM_004218	NP_004209	Q15907	RB11B_HUMAN	Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.	49					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						CGTGGAGTTCGCCACCCGCAG	0.652													T	8464851	G	T	8464851	3	4	213	1	0	0	0	0	1	0	0	0	12892	1087	38	5	151	5	RAB11B	19	8464851	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	2620651	8464851	50664132	56	14687											
MUC16	94025	broad.mit.edu	37	19	9069909	9069909	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:9069909C>A	uc002mkp.3	-	2	17741	c.17537G>T	c.(17536-17538)aGg>aTg	p.R5846M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5848	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						AGTGGAGAGCCTGGTGATGGT	0.488													A	9069909	C	A	9069909	3	1	213	1	0	0	0	0	1	0	0	0	9973	681	24	5	26314	5	MUC16	19	9069909	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	605058	9069909	50059074	57	14688											
FBXL12	54850	broad.mit.edu	37	19	9929295	9929296	+	Splice_Site	INS	-	-	G			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:9929295_9929296insG	uc002mme.3	-	2	329	c.87_splice	c.e2-1	p.R29_splice	FBXL12_uc002mmd.3_5'UTR|FBXL12_uc002mmf.3_Splice_Site|FBXL12_uc002mmg.3_Splice_Site	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	29	F-box.						protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TGACAGACCCTGGGGGAGGGGA	0.723													G	9929296	-	G	9929295	8	5	213	1	0	1	1	0	0	0	1	0	5708	1594	55	0	903	0	FBXL12	19	9929295	Splice_Site	INS	-	TCGA-28-5213-01A-01D-1486-08	859386	9929295	49199688	58	14689											
MATN4	8785	broad.mit.edu	37	20	43933304	43933304	+	Silent	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr20:43933304G>A	uc002xnn.2	-	2	394	c.207C>T	c.(205-207)aaC>aaT	p.N69N	MATN4_uc002xnp.2_Silent_p.N69N|MATN4_uc002xno.2_Silent_p.N69N|MATN4_uc010zwr.1_Silent_p.N17N|MATN4_uc002xnr.1_Silent_p.N69N|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	69	VWFA 1.					extracellular region	protein binding	p.N69fs*3(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGCGCGTGGCGTTGGGACCCA	0.642													A	43933304	G	A	43933304	2	1	213	1	0	0	0	0	0	0	0	1	9336	1136	40	1		1	MATN4	20	43933304	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08		43933304	19092216	59	14690											
LAMA5	3911	broad.mit.edu	37	20	60897158	60897158	+	Missense_Mutation	SNP	C	C	T	rs143066016	byFrequency	TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr20:60897158C>T	uc002ycq.3	-	47	6480	c.6413G>A	c.(6412-6414)aGc>aAc	p.S2138N	LAMA5_uc021wfw.1_Missense_Mutation_p.S2138N	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2138	Laminin EGF-like 22.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCTCCCCGCTGAGCCCCGG	0.701													T	60897158	C	T	60897158	3	4	213	1	0	0	0	0	1	0	0	0	8609	797	28	3	4806	3	LAMA5	20	60897158	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	16963854	60897158	2128362	60	14691											
ASMT	438	broad.mit.edu	37	X	1746630	1746630	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:1746630G>A	uc004cqd.3	+	4	625	c.409G>A	c.(409-411)Gtt>Att	p.V137I	ASMT_uc010ncy.3_Missense_Mutation_p.V137I|ASMT_uc004cqe.3_Missense_Mutation_p.V137I	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	137					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			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)				GACGTTTGGCGTTCCCGCTGA	0.378													A	1746630	G	A	1746630	3	1	213	1	0	0	0	0	1	0	0	0	1045	1145	40	1	423	1	ASMT	23	1746630	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		1746630	153523930	61	14692											
NR0B1	190	broad.mit.edu	37	X	30327199	30327199	+	Silent	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:30327199C>T	uc004dcf.4	-	0	297	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	94	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.P94P(2)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGGCGCCTTCGGTGCCGCGT	0.687													T	30327199	C	T	30327199	2	4	213	1	0	0	0	0	0	0	0	1	10613	871	31	2		2	NR0B1	23	30327199	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	28580569	30327199	124943361	62	14693											
KIAA2022	340533	broad.mit.edu	37	X	73962950	73962950	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:73962950C>T	uc004eby.3	-	2	2059	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	481					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.R481*(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						TCTCTTGGCTCGCAGCCCATA	0.453													T	73962950	C	T	73962950	3	4	213	1	0	0	0	0	1	0	0	0	8269	884	31	2	3116	2	KIAA2022	23	73962950	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	43635751	73962950	81307610	63	14694											
CPSF3L	54973	broad.mit.edu	37	1	1256376	1256376	+	Silent	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:1256376G>A	uc001aef.1	-	4	657	c.144_splice	c.e4+1	p.D48_splice	CPSF3L_uc001aee.1_Splice_Site_p.D42_splice|CPSF3L_uc009vjz.1_Splice_Site_p.D42_splice|CPSF3L_uc010nyj.1_Splice_Site_p.D13_splice|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Splice_Site_p.D42_splice|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001ael.2_5'UTR|CPSF3L_uc001aen.1_Silent_p.D42D			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	42						Golgi apparatus|nucleus	hydrolase activity	p.D42E(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGGGACTCACGTCGTCATTGA	0.647													A	1256376	G	A	1256376	2	1	214	1	0	0	0	0	0	0	0	1	3827	1159	40	1		1	CPSF3L	1	1256376	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08		1256376	247994245	1	14695											
NPHP4	261734	broad.mit.edu	37	1	5937354	5937354	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:5937354T>C	uc001alq.2	-	19	2884	c.2616A>G	c.(2614-2616)aaA>aaG	p.K872K	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	872					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCACGTGTTTTCCTGCGA	0.632													C	5937354	T	C	5937354	2	2	214	1	0	0	0	0	0	0	0	1	10581	1722	60	4		4	NPHP4	1	5937354	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08	4680978	5937354	243313267	2	14696											
MACF1	23499	broad.mit.edu	37	1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:39833905C>T	uc021olw.1	+	13	8177	c.8177C>T	c.(8176-8178)gCg>gTg	p.A2726V	MACF1_uc021ols.1_Missense_Mutation_p.A2224V|MACF1_uc001cdc.2_Missense_Mutation_p.A2224V|MACF1_uc021olt.1_Missense_Mutation_p.A2224V|MACF1_uc001cda.1_Missense_Mutation_p.A2132V|MACF1_uc001cdb.1_Missense_Mutation_p.A1311V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4291					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			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)			TGTGGCTTTGCGCTGGACTTG	0.453													T	39833905	C	T	39833905	3	4	214	1	0	0	0	0	1	0	0	0	9144	768	27	1	13000	1	MACF1	1	39833905	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	33896551	39833905	209416716	3	14697											
CLCA2	9635	broad.mit.edu	37	1	86916416	86916416	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:86916416G>A	uc001dlr.4	+	12	2317	c.2155_splice	c.e12+1	p.G719_splice		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	719					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CACAGCAAACGGTAAGAACCA	0.453													A	86916416	G	A	86916416	3	1	214	1	0	0	0	0	1	0	0	0	3458	1130	39	2	2201	2	CLCA2	1	86916416	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	47082511	86916416	162334205	4	14698											
EPHX4	253152	broad.mit.edu	37	1	92528664	92528664	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:92528664G>A	uc001don.2	+	6	1014	c.910G>A	c.(910-912)Gga>Aga	p.G304R		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	304						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACTACTGTGGGGAGAGAATGA	0.398													A	92528664	G	A	92528664	3	1	214	1	0	0	0	0	1	0	0	0	5182	1233	43	3	936	3	EPHX4	1	92528664	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	5612248	92528664	156721957	5	14699											
DPYD	1806	broad.mit.edu	37	1	98293688	98293688	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:98293688G>C	uc001drv.3	-	2	352	c.215C>G	c.(214-216)gCt>gGt	p.A72G	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.A72G	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	72	4Fe-4S ferredoxin-type 1.				'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			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)	TTCTCGGAGAGCTCCTCGCTC	0.393													C	98293688	G	C	98293688	3	2	214	1	0	0	0	0	1	0	0	0	4745	971	34	5	2989	5	DPYD	1	98293688	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	5765024	98293688	150956933	6	14700											
FLG	2312	broad.mit.edu	37	1	152280977	152280977	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:152280977A>G	uc001ezu.1	-	2	6421	c.6385T>C	c.(6385-6387)Tca>Cca	p.S2129P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2129	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TGGGATGCTGAGTGCCTGGAG	0.572									Ichthyosis				G	152280977	A	G	152280977	3	3	214	1	0	0	0	0	1	0	0	0	5922	304	11	4	5804	4	FLG	1	152280977	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	53987289	152280977	96969644	7	14701											
FLG	2312	broad.mit.edu	37	1	152282616	152282616	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:152282616C>T	uc001ezu.1	-	2	4782	c.4746G>A	c.(4744-4746)gcG>gcA	p.A1582A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1582	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			TCTTGGACCCCGCTGATTCTC	0.602									Ichthyosis				T	152282616	C	T	152282616	2	4	214	1	0	0	0	0	0	0	0	1	5922	639	23	2		2	FLG	1	152282616	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	1639	152282616	96968005	8	14702											
PKP1	5317	broad.mit.edu	37	1	201289494	201289494	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:201289494C>T	uc001gwd.3	+	7	1646	c.1395C>T	c.(1393-1395)agC>agT	p.S465S	PKP1_uc001gwe.3_Silent_p.S444S|PKP1_uc009wzm.3_Silent_p.S52S	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	465					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TAGCGGCCAGCCGCTGTGACG	0.612													T	201289494	C	T	201289494	2	4	214	1	0	0	0	0	0	0	0	1	11984	738	26	3		3	PKP1	1	201289494	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	49006878	201289494	47961127	9	14703											
USH2A	7399	broad.mit.edu	37	1	216061963	216061963	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:216061963C>T	uc001hku.1	-	40	8415	c.8028G>A	c.(8026-8028)ccG>ccA	p.P2676P		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2676	Fibronectin type-III 13.				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.L2675V(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)		AATGACTCCTCGGGAGAGTCA	0.468										HNSCC(13;0.011)			T	216061963	C	T	216061963	2	4	214	1	0	0	0	0	0	0	0	1	17033	871	31	2		2	USH2A	1	216061963	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	14772469	216061963	33188658	10	14704											
POLR1A	25885	broad.mit.edu	37	2	86272753	86272753	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:86272753C>T	uc002sqs.3	-	19	3252	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	POLR1A_uc010ytb.2_Missense_Mutation_p.G324D|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	958					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGTTTGATGCCGGTGAGGAA	0.512													T	86272753	C	T	86272753	3	4	214	1	0	0	0	0	1	0	0	0	12209	739	26	3	2349	3	POLR1A	2	86272753	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		86272753	156926620	11	14705											
PCDP1	200373	broad.mit.edu	37	2	120385285	120385285	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:120385285C>T	uc002tmb.3	+	16	1827	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	PCDP1_uc010yyq.2_Missense_Mutation_p.R369W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	525						cilium	calmodulin binding					Colorectal(110;0.196)					TTATACCAGCCGGTTCTCTGT	0.537													T	120385285	C	T	120385285	3	4	214	1	0	0	0	0	1	0	0	0	11572	643	23	2	745	2	PCDP1	2	120385285	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	34112532	120385285	122814088	12	14706											
ZNF142	7701	broad.mit.edu	37	2	219503257	219503257	+	Silent	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:219503257G>A	uc002vin.3	-	9	5305	c.4869C>T	c.(4867-4869)tgC>tgT	p.C1623C	ZNF142_uc002vil.3_Silent_p.C1584C|ZNF142_uc010fvt.3_Silent_p.C1460C|ZNF142_uc002vim.3_Silent_p.C1460C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCAGAGGCGGCAAAAGAAGG	0.607													A	219503257	G	A	219503257	2	1	214	1	0	0	0	0	0	0	0	1	17728	1195	42	3		3	ZNF142	2	219503257	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08	99117972	219503257	23696116	13	14707											
SCN11A	11280	broad.mit.edu	37	3	38892224	38892224	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:38892224C>T	uc021wvy.1	-	24	4274	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	SCN11A_uc003cis.1_Missense_Mutation_p.V24M	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1359					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTCGAACACGAGACCTTGA	0.308													T	38892224	C	T	38892224	3	4	214	1	0	0	0	0	1	0	0	0	13913	536	19	1	1308	1	SCN11A	3	38892224	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		38892224	159130206	14	14708											
GPR128	84873	broad.mit.edu	37	3	100349573	100349573	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:100349573A>G	uc003duc.3	+	2	522	c.254A>G	c.(253-255)tAt>tGt	p.Y85C		NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	85					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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						AATAGTACCTATATGGGTTTT	0.323													G	100349573	A	G	100349573	3	3	214	1	0	0	0	0	1	0	0	0	6641	449	16	4	264	4	GPR128	3	100349573	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	61457349	100349573	97672857	15	14709											
EPHB1	2047	broad.mit.edu	37	3	134898744	134898744	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:134898744A>G	uc003eqt.3	+	9	2177	c.1802A>G	c.(1801-1803)gAg>gGg	p.E601G	EPHB1_uc003equ.3_Missense_Mutation_p.E162G	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	601						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTCACTTACGAGGATCCCAAC	0.483													G	134898744	A	G	134898744	3	3	214	1	0	0	0	0	1	0	0	0	5174	304	11	4	1840	4	EPHB1	3	134898744	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	34549171	134898744	63123686	16	14710											
CORIN	10699	broad.mit.edu	37	4	47679958	47679958	+	Missense_Mutation	SNP	C	C	T	rs149563697	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:47679958C>T	uc003gxm.3	-	8	1339	c.1246G>A	c.(1246-1248)Gtc>Atc	p.V416I	CORIN_uc011bzf.2_Missense_Mutation_p.V277I|CORIN_uc011bzg.2_Missense_Mutation_p.V349I|CORIN_uc011bzh.1_Missense_Mutation_p.V379I|CORIN_uc011bzi.1_Missense_Mutation_p.V379I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	416					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACTTACTGACGCTGCAGTTC	0.493													T	47679958	C	T	47679958	3	4	214	1	0	0	0	0	1	0	0	0	3752	536	19	1	1938	1	CORIN	4	47679958	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		47679958	143474318	17	14711											
UGT2B15	7366	broad.mit.edu	37	4	69536075	69536075	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:69536075C>A	uc021xow.1	-	0	420	c.262G>T	c.(262-264)Gat>Tat	p.D88Y		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	88					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGAAGAGAATCTTCCAAATAA	0.294													A	69536075	C	A	69536075	3	1	214	1	0	0	0	0	1	0	0	0	16955	913	32	5	2971	5	UGT2B15	4	69536075	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	21856117	69536075	121618201	18	14712											
WDFY3	23001	broad.mit.edu	37	4	85611704	85611704	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:85611704C>G	uc003hpd.3	-	60	9726	c.9318G>C	c.(9316-9318)gaG>gaC	p.E3106D		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3106						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGTGCCCATCTCCCACACAC	0.517													G	85611704	C	G	85611704	3	3	214	1	0	0	0	0	1	0	0	0	17267	912	32	5	1294	5	WDFY3	4	85611704	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	16075629	85611704	105542572	19	14713											
FSTL5	56884	broad.mit.edu	37	4	162577555	162577555	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:162577555T>C	uc003iqh.3	-	6	1255	c.819A>G	c.(817-819)caA>caG	p.Q273Q	FSTL5_uc003iqi.3_Silent_p.Q272Q|FSTL5_uc010iqv.3_Silent_p.Q272Q	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	273	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGGGTTCCTTGAATGGCAC	0.388													C	162577555	T	C	162577555	2	2	214	1	0	0	0	0	0	0	0	1	6080	1606	56	4		4	FSTL5	4	162577555	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08	76965851	162577555	28576721	20	14714											
CDH9	1007	broad.mit.edu	37	5	26988213	26988213	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:26988213C>G	uc003jgs.1	-	2	397	c.228_splice	c.e2+1	p.K76_splice	CDH9_uc010iug.3_Splice_Site_p.K76_splice	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	76	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTCTTACCTTGCCTACAT	0.348													G	26988213	C	G	26988213	3	3	214	1	0	0	0	0	1	0	0	0	3117	695	24	5	2185	5	CDH9	5	26988213	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		26988213	153927047	21	14715											
C5orf48	389320	broad.mit.edu	37	5	125971812	125971812	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:125971812G>A	uc003kub.1	+	2	297	c.284G>A	c.(283-285)cGt>cAt	p.R95H		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	95										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						GGGGAAGATCGTAAAGTTGTC	0.443													A	125971812	G	A	125971812	3	1	214	1	0	0	0	0	1	0	0	0	2306	1145	40	1	294	1	C5orf48	5	125971812	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	98983599	125971812	54943448	22	14716											
IK	3550	broad.mit.edu	37	5	140033536	140033536	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:140033536delG	uc003lgq.3	+	5	528	c.418delG	c.(418-420)gcafs	p.A140fs	IK_uc011czk.1_Frame_Shift_Del_p.A140fs|IK_uc021yen.1_Frame_Shift_Del_p.A81fs	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	140					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATCAGCTGCAGAGAAGAG	0.478													-	140033536	G	-	140033536	7	5	214	1	0	1	0	1	0	0	0	0	7608	1319	46	0	440	0	IK	5	140033536	Frame_Shift_Del	DEL	G	TCGA-28-5214-01A-01D-1486-08	14061724	140033536	40881724	23	14717											
PCDHGC5	56107	broad.mit.edu	37	5	140783915	140783915	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:140783915G>A	uc003lkh.2	+	0	1396	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.A466T	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	468	Cadherin 5.				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)			GGAAAACAACGCCAGAGGTAC	0.468													A	140783915	G	A	140783915	3	1	214	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140783915	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	750379	140783915	40131345	24	14718											
GRIA1	2890	broad.mit.edu	37	5	153149798	153149798	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:153149798G>A	uc011dcy.2	+	12	2150	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	GRIA1_uc003lva.4_Missense_Mutation_p.R698Q|GRIA1_uc003luy.4_Missense_Mutation_p.R698Q|GRIA1_uc003luz.4_Missense_Mutation_p.R603Q|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R618Q|GRIA1_uc011dcx.2_Missense_Mutation_p.R629Q|GRIA1_uc011dcz.2_Missense_Mutation_p.R708Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	698					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTTTTTGTGCGGACCACAGAG	0.468													A	153149798	G	A	153149798	3	1	214	1	0	0	0	0	1	0	0	0	6767	1116	39	2	2143	2	GRIA1	5	153149798	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	12365883	153149798	27765462	25	14719											
RNF130	55819	broad.mit.edu	37	5	179393829	179393829	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:179393829C>T	uc003mll.1	-	6	1534	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	RNF130_uc003mlm.1_Missense_Mutation_p.G376E	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	376					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGATTTCTCCTGTTCTCGG	0.587													T	179393829	C	T	179393829	3	4	214	1	0	0	0	0	1	0	0	0	13438	855	30	3	144	3	RNF130	5	179393829	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	26244031	179393829	1521431	26	14720											
HIVEP1	3096	broad.mit.edu	37	6	12123451	12123451	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr6:12123451C>T	uc003nac.3	+	3	3602	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1141					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			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)				ACACCAACTCCCTGAGCAGGC	0.507													T	12123451	C	T	12123451	2	4	214	1	0	0	0	0	0	0	0	1	7186	610	22	3		3	HIVEP1	6	12123451	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		12123451	158991616	27	14721											
PGK2	5232	broad.mit.edu	37	6	49754388	49754388	+	Silent	SNP	G	G	A	rs147140024	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr6:49754388G>A	uc003ozu.3	-	0	666	c.513C>T	c.(511-513)cgC>cgT	p.R171R		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	171					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AACTATGAGCGCGGTGTGCAG	0.458													A	49754388	G	A	49754388	2	1	214	1	0	0	0	0	0	0	0	1	11791	1074	38	1		1	PGK2	6	49754388	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08	37630937	49754388	121360679	28	14722											
INHBA	3624	broad.mit.edu	37	7	41729925	41729925	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:41729925T>A	uc003thq.3	-	1	839	c.604A>T	c.(604-606)Agt>Tgt	p.S202C	INHBA_uc003thr.3_Missense_Mutation_p.S202C	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	202					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.R201S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AACAGTTCACTCCTCTCCCCC	0.582										TSP Lung(11;0.080)			A	41729925	T	A	41729925	3	1	214	1	0	0	0	0	1	0	0	0	7741	1551	54	5	680	5	INHBA	7	41729925	Missense_Mutation	SNP	T	TCGA-28-5214-01A-01D-1486-08		41729925	117408738	29	14723											
TMEM120A	83862	broad.mit.edu	37	7	75617603	75617603	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:75617603A>C	uc003ued.3	-	6	631	c.527T>G	c.(526-528)aTc>aGc	p.I176S	TMEM120A_uc003ueb.1_5'Flank|TMEM120A_uc003uec.2_Missense_Mutation_p.I81S|TMEM120A_uc022agl.1_Missense_Mutation_p.I81S	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN	Homo sapiens transmembrane protein 120A (TMEM120A), mRNA.	177						integral to membrane											GCTCTCCCGGATGGTCAGGGT	0.652													C	75617603	A	C	75617603	3	2	214	1	0	0	0	0	1	0	0	0	16030	333	12	5	529	5	TMEM120A	7	75617603	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	33887678	75617603	83521060	30	14724											
SMURF1	57154	broad.mit.edu	37	7	98636012	98636012	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:98636012G>A	uc003upu.2	-	15	2106	c.1766_splice	c.e15+1	p.R589_splice	SMURF1_uc003upv.2_Splice_Site_p.R563_splice|SMURF1_uc003upt.3_Splice_Site_p.R563_splice	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	589	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGGCATTACCGGACGTATTCT	0.577													A	98636012	G	A	98636012	3	1	214	1	0	0	0	0	1	0	0	0	14819	1130	39	2	528	2	SMURF1	7	98636012	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	23018409	98636012	60502651	31	14725											
PIK3CG	5294	broad.mit.edu	37	7	106509059	106509059	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:106509059C>T	uc003vdv.4	+	1	1138	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	PIK3CG_uc003vdu.3_Silent_p.T351T|PIK3CG_uc003vdw.3_Silent_p.T351T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	351					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			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						GTGTGTTCACCGTGTCCCTGT	0.572													T	106509059	C	T	106509059	2	4	214	1	0	0	0	0	0	0	0	1	11916	639	23	2		2	PIK3CG	7	106509059	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	7873047	106509059	52629604	32	14726											
PRSS1	5644	broad.mit.edu	37	7	142460295	142460295	+	Silent	SNP	C	C	T	rs146076691		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:142460295C>T	uc003wak.2	+	3	485	c.468C>T	c.(466-468)gaC>gaT	p.D156D	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Silent_p.D96D	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	156	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACTACCCAGACGAGCTGCAGT	0.507													T	142460295	C	T	142460295	2	4	214	1	0	0	0	0	0	0	0	1	12614	535	19	1		1	PRSS1	7	142460295	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	35951236	142460295	16678368	33	14727											
TRAPPC9	83696	broad.mit.edu	37	8	141310662	141310662	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr8:141310662T>C	uc003yvh.2	-	10	1983	c.1968A>G	c.(1966-1968)aaA>aaG	p.K656K	TRAPPC9_uc003yvj.2_Silent_p.K558K|TRAPPC9_uc003yvi.1_Silent_p.K549K	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	558					cell differentiation	endoplasmic reticulum|Golgi apparatus				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						CCAGCAAGCTTTTCATTTTGT	0.443													C	141310662	T	C	141310662	2	2	214	1	0	0	0	0	0	0	0	1	16462	1838	64	4		4	TRAPPC9	8	141310662	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08		141310662	5053360	34	14728											
LINGO2	158038	broad.mit.edu	37	9	27949565	27949565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:27949565G>A	uc003zqv.1	-	6	1755	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	LINGO2_uc010mjf.1_Nonsense_Mutation_p.R369*|LINGO2_uc003zqu.1_Nonsense_Mutation_p.R369*|LINGO2_uc022bfc.1_Nonsense_Mutation_p.R369*	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	369	LRRCT.					integral to membrane		p.R369Q(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GTGGGCTGTCGCTGCAAGATC	0.547													A	27949565	G	A	27949565	4	1	214	1	0	0	0	0	0	1	0	0	8815	1095	38	1	719	1	LINGO2	9	27949565	Nonsense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08		27949565	113263866	35	14729											
KLF9	687	broad.mit.edu	37	9	73002796	73002796	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:73002796G>A	uc004aht.3	-	1	1925	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Homo sapiens Kruppel-like factor 9 (KLF9), mRNA.	211					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CTCATGAAGCGCTTCTCACAC	0.592													A	73002796	G	A	73002796	3	1	214	1	0	0	0	0	1	0	0	0	8353	1087	38	1	107	1	KLF9	9	73002796	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	45053231	73002796	68210635	36	14730											
EPB41L4B	54566	broad.mit.edu	37	9	112015778	112015778	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:112015778T>C	uc004bdz.1	-	11	1517	c.1222A>G	c.(1222-1224)Acc>Gcc	p.T408A	EPB41L4B_uc004bea.3_Missense_Mutation_p.T408A	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	408						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCAAAGGTGCTGGTTCTT	0.403													C	112015778	T	C	112015778	3	2	214	1	0	0	0	0	1	0	0	0	5156	1696	59	4	1692	4	EPB41L4B	9	112015778	Missense_Mutation	SNP	T	TCGA-28-5214-01A-01D-1486-08	39012982	112015778	29197653	37	14731											
MAP3K11	4296	broad.mit.edu	37	11	65367001	65367001	+	Silent	SNP	C	C	A	rs138509783		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr11:65367001C>A	uc001oew.3	-	8	2563	c.2070G>T	c.(2068-2070)ccG>ccT	p.P690P	MAP3K11_uc001oev.3_Silent_p.P106P|MAP3K11_uc010rol.2_Silent_p.P433P|MAP3K11_uc001oex.1_Silent_p.P197P	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	690	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGAAGGGGGCGGCTCGGTCG	0.736													A	65367001	C	A	65367001	2	1	214	1	0	0	0	0	0	0	0	1	9245	755	27	5		5	MAP3K11	11	65367001	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		65367001	69639515	38	14732											
ANKRD33	341405	broad.mit.edu	37	12	52284680	52284680	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:52284680G>C	uc001rzd.3	+	4	1128	c.950G>C	c.(949-951)aGt>aCt	p.S317T	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S192T|ANKRD33_uc001rze.3_Missense_Mutation_p.S213T|ANKRD33_uc001rzg.4_Missense_Mutation_p.S119T|ANKRD33_uc001rzi.4_Missense_Mutation_p.S192T	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	192										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGCCTGGCCAGTCCCTTCGTC	0.632													C	52284680	G	C	52284680	3	2	214	1	0	0	0	0	1	0	0	0	661	1029	36	5	998	5	ANKRD33	12	52284680	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08		52284680	81567215	39	14733											
PAN2	9924	broad.mit.edu	37	12	56717611	56717611	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:56717611A>T	uc001skx.3	-	13	2541	c.2164T>A	c.(2164-2166)Tgt>Agt	p.C722S	PAN2_uc001skw.3_5'UTR|PAN2_uc001sky.3_Missense_Mutation_p.C718S|PAN2_uc001skz.3_Missense_Mutation_p.C721S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	722					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TACTTTTCACAGGTGTCACAC	0.522													T	56717611	A	T	56717611	3	4	214	1	0	0	0	0	1	0	0	0	11414	188	7	5	1496	5	PAN2	12	56717611	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	4432931	56717611	77134284	40	14734											
FGD6	55785	broad.mit.edu	37	12	95603097	95603097	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:95603097C>T	uc001tdp.4	-	1	2187	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	655					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGGTGTCTCCGAGTTGGCTA	0.443													T	95603097	C	T	95603097	3	4	214	1	0	0	0	0	1	0	0	0	5837	661	23	2	2409	2	FGD6	12	95603097	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	38885486	95603097	38248798	41	14735											
MIPEP	4285	broad.mit.edu	37	13	24330744	24330744	+	Missense_Mutation	SNP	G	G	A	rs148780512	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr13:24330744G>A	uc001uox.4	-	17	2112	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	662					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.R662H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTGCGATAGCGCTCCCCGGCA	0.517													A	24330744	G	A	24330744	3	1	214	1	0	0	0	0	1	0	0	0	9592	1087	38	1	165	1	MIPEP	13	24330744	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08		24330744	90839134	42	14736											
FMN1	342184	broad.mit.edu	37	15	33359642	33359642	+	Silent	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:33359642A>G	uc001zhf.4	-	0	444	c.444T>C	c.(442-444)tcT>tcC	p.S148S	FMN1_uc001zhg.2_Silent_p.S148S	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CATCAGAGTCAGAATCACTGG	0.522													G	33359642	A	G	33359642	2	3	214	1	0	0	0	0	0	0	0	1	5949	175	7	4		4	FMN1	15	33359642	Silent	SNP	A	TCGA-28-5214-01A-01D-1486-08		33359642	69171750	43	14737											
SPATA5L1	79029	broad.mit.edu	37	15	45709546	45709546	+	Silent	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:45709546A>G	uc001zve.3	+	5	2026	c.1917A>G	c.(1915-1917)ttA>ttG	p.L639L	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	639						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CTGCTTTGTTACGACCTGGAA	0.393													G	45709546	A	G	45709546	2	3	214	1	0	0	0	0	0	0	0	1	15011	388	14	4		4	SPATA5L1	15	45709546	Silent	SNP	A	TCGA-28-5214-01A-01D-1486-08	12349904	45709546	56821846	44	14738											
VPS13C	54832	broad.mit.edu	37	15	62182532	62182532	+	Missense_Mutation	SNP	C	C	T	rs150364963		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:62182532C>T	uc002agz.3	-	66	9264	c.9173G>A	c.(9172-9174)cGc>cAc	p.R3058H	VPS13C_uc002aha.3_Missense_Mutation_p.R3015H|VPS13C_uc002ahb.2_Missense_Mutation_p.R3058H|VPS13C_uc002ahc.2_Missense_Mutation_p.R3015H	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3058					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACTCTCTGGCGCCCATCCAG	0.443													T	62182532	C	T	62182532	3	4	214	1	0	0	0	0	1	0	0	0	17188	768	27	1	2192	1	VPS13C	15	62182532	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	16472986	62182532	40348860	45	14739											
NR2F2	7026	broad.mit.edu	37	15	96877739	96877739	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:96877739C>T	uc010uri.2	+	1	2101	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	NR2F2_uc002btp.3_Missense_Mutation_p.R160W|NR2F2_uc010urj.2_Missense_Mutation_p.R140W|NR2F2_uc010urk.2_Missense_Mutation_p.R140W	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	293	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGACCACATACGGATCTTCCA	0.627													T	96877739	C	T	96877739	3	4	214	1	0	0	0	0	1	0	0	0	10628	527	19	1	930	1	NR2F2	15	96877739	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	34695207	96877739	5653653	46	14740											
FOXN1	8456	broad.mit.edu	37	17	26864328	26864328	+	Silent	SNP	A	A	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr17:26864328A>C	uc010crm.3	+	8	2019	c.1821A>C	c.(1819-1821)gcA>gcC	p.A607A	FOXN1_uc002hbj.3_Silent_p.A607A	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	607					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCTCCGGGGCACTGGGTGACC	0.687													C	26864328	A	C	26864328	2	2	214	1	0	0	0	0	0	0	0	1	6019	146	6	5		5	FOXN1	17	26864328	Silent	SNP	A	TCGA-28-5214-01A-01D-1486-08		26864328	54330882	47	14741											
GJC1	10052	broad.mit.edu	37	17	42882434	42882434	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr17:42882434A>G	uc002ihj.3	-	1	1263	c.752T>C	c.(751-753)cTt>cCt	p.L251P	GJC1_uc002ihk.3_Missense_Mutation_p.L251P|GJC1_uc002ihl.3_Missense_Mutation_p.L251P|GJC1_uc021tyf.1_Missense_Mutation_p.L251P	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	251					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CCCTAAATGAAGCATCTCCCA	0.413													G	42882434	A	G	42882434	3	3	214	1	0	0	0	0	1	0	0	0	6414	72	3	4	442	4	GJC1	17	42882434	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	16018106	42882434	38312776	48	14742											
MC4R	4160	broad.mit.edu	37	18	58039563	58039563	+	Missense_Mutation	SNP	C	C	T	rs142837166		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr18:58039563C>T	uc002lie.1	-	0	439	c.20G>A	c.(19-21)cGt>cAt	p.R7H		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	7					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GTGCATCCCACGGTGGGTGGA	0.537													T	58039563	C	T	58039563	3	4	214	1	0	0	0	0	1	0	0	0	9366	536	19	1	982	1	MC4R	18	58039563	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		58039563	20037685	49	14743											
HDGFRP2	84717	broad.mit.edu	37	19	4475292	4475292	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:4475292C>T	uc002mao.3	+	1	186	c.93C>T	c.(91-93)ggC>ggT	p.G31G	HDGFRP2_uc002map.3_Silent_p.G31G|HDGFRP2_uc010dtz.1_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	31	PWWP.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										TCGCGGATGGCGCCGTGAAGC	0.562													T	4475292	C	T	4475292	2	4	214	1	0	0	0	0	0	0	0	1	7020	755	27	1		1	HDGFRP2	19	4475292	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		4475292	54653691	50	14744											
ZNF709	163050	broad.mit.edu	37	19	12638084	12638084	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:12638084G>A	uc002mty.3	-	3	1048	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATTCATGGGGTTTCTCTCCA	0.403													A	12638084	G	A	12638084	3	1	214	1	0	0	0	0	1	0	0	0	18110	1261	44	3		3	ZNF709	19	12638084	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	8162792	12638084	46490899	51	14745											
PSG9	5678	broad.mit.edu	37	19	43762524	43762524	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:43762524G>C	uc002owd.4	-	4	1172	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C	PSG9_uc002owe.4_Missense_Mutation_p.S265C|PSG9_uc010xwm.2_Missense_Mutation_p.S265C|PSG9_uc002owf.4_Missense_Mutation_p.S172C|PSG9_uc002owg.2_Missense_Mutation_p.S265C	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	358	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGGTGGGTTAGATTCCGTGAA	0.448													C	43762524	G	C	43762524	3	2	214	1	0	0	0	0	1	0	0	0	12662	942	33	5	215	5	PSG9	19	43762524	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	31124440	43762524	15366459	52	14746											
SYNGR4	23546	broad.mit.edu	37	19	48878966	48878966	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:48878966C>T	uc002piz.3	+	3	679	c.428C>T	c.(427-429)gCc>gTc	p.A143V		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	143	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGCAGCAGTGCCCAGGCAGCC	0.612													T	48878966	C	T	48878966	3	4	214	1	0	0	0	0	1	0	0	0	15448	739	26	3	438	3	SYNGR4	19	48878966	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	5116442	48878966	10250017	53	14747											
LILRA1	11024	broad.mit.edu	37	19	55106242	55106242	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:55106242T>C	uc002qgh.1	+	3	365	c.183T>C	c.(181-183)taT>taC	p.Y61Y	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.Y61Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	61	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L60L(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCGTCTGTATAGAGAAAAGA	0.577													C	55106242	T	C	55106242	2	2	214	1	0	0	0	0	0	0	0	1	8784	1413	49	4		4	LILRA1	19	55106242	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08	6227276	55106242	4022741	54	14748											
ISM1	140862	broad.mit.edu	37	20	13279761	13279761	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr20:13279761C>T	uc010gce.1	+	5	1056	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	350	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCTGGAAGGACGCCAGCGGGC	0.647													T	13279761	C	T	13279761	2	4	214	1	0	0	0	0	0	0	0	1	7860	535	19	1		1	ISM1	20	13279761	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		13279761	49745759	55	14749											
ZBTB46	140685	broad.mit.edu	37	20	62421878	62421878	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr20:62421878A>C	uc002ygv.2	-	1	434	c.233T>G	c.(232-234)gTc>gGc	p.V78G	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	78	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGGGCCGTGACGATGTCCAG	0.612													C	62421878	A	C	62421878	3	2	214	1	0	0	0	0	1	0	0	0	17544	275	10	5	1552	5	ZBTB46	20	62421878	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	49142117	62421878	603642	56	14750											
CDX4	1046	broad.mit.edu	37	X	72667327	72667327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:72667327C>T	uc011mqk.2	+	0	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P79L(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CAGTCCCCCGCGAGAAGACTG	0.607													T	72667327	C	T	72667327	4	4	214	1	0	0	0	0	0	1	0	0	3184	760	27	1	240	1	CDX4	23	72667327	Nonsense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		72667327	82603233	57	14751											
ATRX	546	broad.mit.edu	37	X	76918965	76918965	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:76918965C>T	uc004ecp.4	-	11	4258	c.4026G>A	c.(4024-4026)cgG>cgA	p.R1342R	ATRX_uc004ecq.4_Silent_p.R1304R|ATRX_uc004eco.4_Silent_p.R1127R|ATRX_uc004ecr.2_Silent_p.R1274R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1342					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R1342W(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCAATTTGTGCCGCAAAAGCC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76918965	C	T	76918965	2	4	214	1	0	0	0	0	0	0	0	1	1208	726	26	3		3	ATRX	23	76918965	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	4251638	76918965	78351595	58	14752											
MAGEA8	4107	broad.mit.edu	37	X	149013838	149013838	+	Silent	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:149013838G>A	uc022cgq.1	+	0	792	c.792G>A	c.(790-792)gcG>gcA	p.A264A	MAGEA8_uc022cgo.1_Silent_p.A264A|MAGEA8_uc004fdw.2_Silent_p.A264A|MAGEA8_uc022cgp.1_Silent_p.A264A	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	264	MAGE.							p.A264A(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGCCAGGCGCCCGGCAGTG	0.582													A	149013838	G	A	149013838	2	1	214	1	0	0	0	0	0	0	0	1	9171	1074	38	1		1	MAGEA8	23	149013838	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08	72094873	149013838	6256722	59	14753											
UBR4	23352	broad.mit.edu	37	1	19451182	19451182	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:19451182A>G	uc001bbi.3	-	64	9445	c.9441T>C	c.(9439-9441)ggT>ggC	p.G3147G	UBR4_uc001bbk.1_Silent_p.G794G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3147					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCAGCATGACCCTGGGAGA	0.413													G	19451182	A	G	19451182	2	3	215	1	0	0	0	0	0	0	0	1	16901	262	10	4		4	UBR4	1	19451182	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08		19451182	229799439	1	14754											
SFN	2810	broad.mit.edu	37	1	27190037	27190037	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:27190037G>T	uc010ofi.1	-	0		c.413C>A			BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Missense_Mutation_p.G112W			P31947	1433S_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.						DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CAAGGAGGCCGGGGACGCCGA	0.637													T	27190037	G	T	27190037	3	4	215	1	0	0	0	0	1	0	0	0	14159	1116	39	5	336	5	SFN	1	27190037	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	7738855	27190037	222060584	2	14755											
BCAR3	8412	broad.mit.edu	37	1	94032964	94032964	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:94032964A>G	uc001dpz.3	-	10	2446	c.2171T>C	c.(2170-2172)tTt>tCt	p.F724S	BCAR3_uc001dqa.3_Missense_Mutation_p.F724S|BCAR3_uc001dqb.3_Missense_Mutation_p.F724S|BCAR3_uc001dpx.4_Missense_Mutation_p.F400S|BCAR3_uc001dpy.3_Missense_Mutation_p.F633S	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	724	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGTTCCTTCAAAAGTCACAGC	0.502													G	94032964	A	G	94032964	3	3	215	1	0	0	0	0	1	0	0	0	1349	14	1	4	314	4	BCAR3	1	94032964	Missense_Mutation	SNP	A	TCGA-28-5215-01A-01D-1486-08	66842927	94032964	155217657	3	14756											
IRF6	3664	broad.mit.edu	37	1	209961847	209961847	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:209961847C>T	uc001hhq.2	-	8	1626	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	IRF6_uc010psm.2_Missense_Mutation_p.R346H	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	441					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGAAGGATGCGGTACAGCTG	0.557										HNSCC(57;0.16)			T	209961847	C	T	209961847	3	4	215	1	0	0	0	0	1	0	0	0	7834	768	27	1	85	1	IRF6	1	209961847	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	115928883	209961847	39288774	4	14757											
ST6GAL2	84620	broad.mit.edu	37	2	107459661	107459661	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:107459661C>T	uc002tdq.3	-	1	892	c.773G>A	c.(772-774)cGc>cAc	p.R258H	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R258H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R258H	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	258					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CACGCGCGCGCGGCTCCGCAG	0.736													T	107459661	C	T	107459661	3	4	215	1	0	0	0	0	1	0	0	0	15221	768	27	1	923	1	ST6GAL2	2	107459661	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		107459661	135739712	5	14758											
PSD4	23550	broad.mit.edu	37	2	113950118	113950118	+	Missense_Mutation	SNP	G	G	A	rs140435814	byFrequency	TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:113950118G>A	uc002tjc.3	+	5	1973	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	PSD4_uc002tjd.3_Missense_Mutation_p.R218H|PSD4_uc002tje.3_Missense_Mutation_p.R568H|PSD4_uc002tjf.3_Missense_Mutation_p.R218H	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	597	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCTCTATCGCCTGGAGGGC	0.597													A	113950118	G	A	113950118	3	1	215	1	0	0	0	0	1	0	0	0	12649	1087	38	1	1808	1	PSD4	2	113950118	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	6490457	113950118	129249255	6	14759											
INPP5D	3635	broad.mit.edu	37	2	234112804	234112804	+	Missense_Mutation	SNP	C	C	T	rs142742228	by1000genomes	TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:234112804C>T	uc010zmo.2	+	24	3074	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M	INPP5D_uc010zmp.2_Missense_Mutation_p.T973M	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1003	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCAGGGGACACGCTGCCTCAG	0.602													T	234112804	C	T	234112804	3	4	215	1	0	0	0	0	1	0	0	0	7756	536	19	1	2618	1	INPP5D	2	234112804	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	120162686	234112804	9086569	7	14760											
TRIM71	131405	broad.mit.edu	37	3	32933302	32933302	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr3:32933302A>G	uc003cff.3	+	3	2669	c.2606A>G	c.(2605-2607)tAa>tGa	p.*869*		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	0					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCGTCTTCTAATTGCATTTC	0.488													G	32933302	A	G	32933302	2	3	215	1	0	0	0	0	0	0	0	1	16541	369	13	4		4	TRIM71	3	32933302	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08		32933302	165089128	8	14761											
SI	6476	broad.mit.edu	37	3	164733001	164733001	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr3:164733001A>G	uc003fei.3	-	32	3972	c.3909T>C	c.(3907-3909)aaT>aaC	p.N1303N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1303	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			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)	TCTTTGTTTCATTTCCTGAAA	0.348										HNSCC(35;0.089)			G	164733001	A	G	164733001	2	3	215	1	0	0	0	0	0	0	0	1	14297	214	8	4		4	SI	3	164733001	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08	131799699	164733001	33289429	9	14762											
NDST4	64579	broad.mit.edu	37	4	115998231	115998231	+	Translation_Start_Site	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr4:115998231G>A	uc003ibu.3	-	1					NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCCAATTTCGTTTCCTAAAG	0.338													A	115998231	G	A	115998231	1	1	215	1	0	0	0	0	0	0	0	0	10258	1160	40	1		1	NDST4	4	115998231	Translation_Start_Site	SNP	G	TCGA-28-5215-01A-01D-1486-08		115998231	75156045	10	14763											
TRIML2	205860	broad.mit.edu	37	4	189012730	189012730	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr4:189012730C>T	uc011cle.1	-	7	1408	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	TRIML2_uc003izj.1_Missense_Mutation_p.G149S|TRIML2_uc003izk.1_Missense_Mutation_p.G129S|TRIML2_uc003izl.2_Missense_Mutation_p.G321S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	321							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGAAAACGCCAACTGTGTCC	0.517													T	189012730	C	T	189012730	3	4	215	1	0	0	0	0	1	0	0	0	16548	594	21	3	206	3	TRIML2	4	189012730	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	73014499	189012730	2141546	11	14764											
ADAMTS6	11174	broad.mit.edu	37	5	64520167	64520167	+	Missense_Mutation	SNP	G	G	A	rs143194045		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr5:64520167G>A	uc003jtp.3	-	17	3066	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.A372V	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	751	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CTTTGACATGGCAACTTCTCT	0.408													A	64520167	G	A	64520167	3	1	215	1	0	0	0	0	1	0	0	0	270	1203	42	3	1133	3	ADAMTS6	5	64520167	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		64520167	116395093	12	14765											
PCDHAC2	56146	broad.mit.edu	37	5	140176553	140176553	+	Silent	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr5:140176553G>A	uc003lhd.2	+	0	2110	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S668S|PCDHAC2_uc011czy.2_Silent_p.S668S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	679	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S668S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGTCGTTGGTGGAAA	0.652													A	140176553	G	A	140176553	2	1	215	1	0	0	0	0	0	0	0	1	11533	1132	40	1		1	PCDHAC2	5	140176553	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08	75656386	140176553	40738707	13	14766											
TRIM26	7726	broad.mit.edu	37	6	30164404	30164404	+	Silent	SNP	C	C	T	rs137972961		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:30164404C>T	uc003npr.3	-	4	863	c.654G>A	c.(652-654)acG>acA	p.T218T	TRIM26_uc003nps.3_Silent_p.T218T|TRIM26_uc003npt.3_Silent_p.T218T|TRIM26_uc010jry.3_5'UTR	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	218							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CCCTGCCCTCCGTGAGCTCCT	0.642													T	30164404	C	T	30164404	2	4	215	1	0	0	0	0	0	0	0	1	16497	639	23	2		2	TRIM26	6	30164404	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		30164404	140950663	14	14767											
SIM1	6492	broad.mit.edu	37	6	100911318	100911318	+	Silent	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:100911318C>T	uc003pqj.4	-	0	494	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_uc021zdg.1_Silent_p.A9A|SIM1_uc010kcu.3_Silent_p.A9A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	9					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423													T	100911318	C	T	100911318	2	4	215	1	0	0	0	0	0	0	0	1	14323	755	27	1		1	SIM1	6	100911318	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08	70746914	100911318	70203749	15	14768											
FNDC1	84624	broad.mit.edu	37	6	159655381	159655381	+	Silent	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:159655381G>A	uc010kjv.3	+	10	4037	c.3837G>A	c.(3835-3837)ccG>ccA	p.P1279P	FNDC1_uc010kjw.1_Silent_p.P1164P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1279						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCCCTGGCCGCAGTACACCA	0.701													A	159655381	G	A	159655381	2	1	215	1	0	0	0	0	0	0	0	1	5968	1074	38	1		1	FNDC1	6	159655381	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08	58744063	159655381	11459686	16	14769											
CHN2	1124	broad.mit.edu	37	7	29438049	29438049	+	Silent	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:29438049C>T	uc003szz.3	+	4	674	c.237C>T	c.(235-237)gcC>gcT	p.A79A	CHN2_uc011jzs.2_Silent_p.A154A|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.A44A|CHN2_uc011jzt.2_Silent_p.A92A|CHN2_uc010kvd.3_Intron|CHN2_uc011jzu.2_Silent_p.A64A	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	79	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGGAGGGTGCCTACATCCTTA	0.522													T	29438049	C	T	29438049	2	4	215	1	0	0	0	0	0	0	0	1	3363	668	24	3		3	CHN2	7	29438049	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		29438049	129700614	17	14770											
ASB4	51666	broad.mit.edu	37	7	95115358	95115358	+	Silent	SNP	A	A	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:95115358A>G	uc011kij.2	+	0	146	c.75A>G	c.(73-75)ctA>ctG	p.L25L	ASB4_uc003unx.3_Silent_p.L25L	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	25					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTGAGGCGCTAAAGTCCAATG	0.438													G	95115358	A	G	95115358	2	3	215	1	0	0	0	0	0	0	0	1	1025	349	13	4		4	ASB4	7	95115358	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08	65677309	95115358	64023305	18	14771											
ANK1	286	broad.mit.edu	37	8	41566469	41566469	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr8:41566469C>T	uc003xok.3	-	16	1909	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Missense_Mutation_p.A609T|ANK1_uc003xoj.3_Missense_Mutation_p.A609T|ANK1_uc003xol.3_Missense_Mutation_p.A609T|ANK1_uc003xom.3_Missense_Mutation_p.A642T	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	609	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.A609T(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCTTGGCAGCGATGTGCAAA	0.582													T	41566469	C	T	41566469	3	4	215	1	0	0	0	0	1	0	0	0	620	768	27	1	4278	1	ANK1	8	41566469	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		41566469	104797553	19	14772											
ATP6V0D2	245972	broad.mit.edu	37	8	87162356	87162356	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr8:87162356C>T	uc003ydp.1	+	5	724	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	219					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGCCGACAGACGTGCTTTTAT	0.408													T	87162356	C	T	87162356	3	4	215	1	0	0	0	0	1	0	0	0	1174	536	19	1	677	1	ATP6V0D2	8	87162356	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	45595887	87162356	59201666	20	14773											
ADAMTSL1	92949	broad.mit.edu	37	9	18777555	18777555	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr9:18777555C>T	uc003zne.4	+	18	3480	c.3328C>T	c.(3328-3330)Cgc>Tgc	p.R1110C		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1110						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGATCTTCCGCAGCCACCT	0.647													T	18777555	C	T	18777555	3	4	215	1	0	0	0	0	1	0	0	0	274	652	23	2	3406	2	ADAMTSL1	9	18777555	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		18777555	122435876	21	14774											
CDH23	64072	broad.mit.edu	37	10	73375274	73375274	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr10:73375274C>G	uc001jrx.4	+	9	1236	c.846C>G	c.(844-846)agC>agG	p.S282R	CDH23_uc001jrw.4_Missense_Mutation_p.S282R|CDH23_uc001jry.3_Missense_Mutation_p.S282R|CDH23_uc001jrz.3_Missense_Mutation_p.S282R|CDH23_uc021psl.1_Missense_Mutation_p.S282R|CDH23_uc009xql.3_Missense_Mutation_p.S282R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	282	Cadherin 3.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATACCAACAGCATCTTTGCCC	0.607													G	73375274	C	G	73375274	3	3	215	1	0	0	0	0	1	0	0	0	3108	709	25	5	880	5	CDH23	10	73375274	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		73375274	62159473	22	14775											
DHX32	55760	broad.mit.edu	37	10	127541113	127541113	+	Silent	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr10:127541113T>C	uc001ljf.1	-	5	1683	c.1192_splice	c.e5+1	p.G398_splice	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Splice_Site_p.G22_splice|DHX32_uc001ljg.1_Splice_Site_p.G398_splice|DHX32_uc009yam.1_Splice_Site_p.G153_splice	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	398						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGCACTACCTGAAGAAGATG	0.433													C	127541113	T	C	127541113	2	2	215	1	0	0	0	0	0	0	0	1	4505	1594	55	4		4	DHX32	10	127541113	Silent	SNP	T	TCGA-28-5215-01A-01D-1486-08	54165839	127541113	7993634	23	14776											
PNPLA2	57104	broad.mit.edu	37	11	824015	824015	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:824015G>A	uc001lrt.3	+	7	1140	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	PNPLA2_uc009ycl.3_Missense_Mutation_p.R124H|EFCAB4A_uc010qwt.1_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	Homo sapiens patatin-like phospholipase domain containing 2 (PNPLA2), mRNA.	313					negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGCCTGCGTGGAGCCCAC	0.716													A	824015	G	A	824015	3	1	215	1	0	0	0	0	1	0	0	0	12165	1145	40	1	963	1	PNPLA2	11	824015	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		824015	134182501	24	14777											
OR5D16	390144	broad.mit.edu	37	11	55606777	55606777	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:55606777T>C	uc010rio.2	+	0	550	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTGTGAGTTATCCTCCCTGAT	0.418													C	55606777	T	C	55606777	3	2	215	1	0	0	0	0	1	0	0	0	11156	1435	50	4	552	4	OR5D16	11	55606777	Missense_Mutation	SNP	T	TCGA-28-5215-01A-01D-1486-08	54782762	55606777	79399739	25	14778											
UVRAG	7405	broad.mit.edu	37	11	75852116	75852116	+	Nonsense_Mutation	SNP	G	G	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:75852116G>T	uc001oxc.3	+	14	2000	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	UVRAG_uc010rrw.2_Nonsense_Mutation_p.E486*|UVRAG_uc001oxd.3_Nonsense_Mutation_p.E215*|UVRAG_uc010rrx.2_Nonsense_Mutation_p.E215*|UVRAG_uc010rry.2_Nonsense_Mutation_p.E143*	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	587					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGAACAAGGAGAAGCCCTCTC	0.577													T	75852116	G	T	75852116	4	4	215	1	0	0	0	0	0	1	0	0	17105	943	33	5	1817	5	UVRAG	11	75852116	Nonsense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	20245339	75852116	59154400	26	14779											
RACGAP1	29127	broad.mit.edu	37	12	50387942	50387942	+	Silent	SNP	G	G	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:50387942G>C	uc001rvt.2	-	13	1621	c.1311C>G	c.(1309-1311)cgC>cgG	p.R437R	RACGAP1_uc009zlm.1_Silent_p.R437R|RACGAP1_uc001rvs.2_Silent_p.R437R|RACGAP1_uc001rvu.2_Silent_p.R437R	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	437	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTCTGTTAAGGCGAAAGGTCA	0.403													C	50387942	G	C	50387942	2	2	215	1	0	0	0	0	0	0	0	1	12977	1190	42	5		5	RACGAP1	12	50387942	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08		50387942	83463953	27	14780											
LRP1	4035	broad.mit.edu	37	12	57571370	57571370	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:57571370G>A	uc001snd.3	+	25	4823	c.4357G>A	c.(4357-4359)Gcc>Acc	p.A1453T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1453					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.D1452D(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)	TTGGATTGACGCCAGGTCAGC	0.657													A	57571370	G	A	57571370	3	1	215	1	0	0	0	0	1	0	0	0	8951	1087	38	1	4459	1	LRP1	12	57571370	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	7183428	57571370	76280525	28	14781											
CLIP1	6249	broad.mit.edu	37	12	122839754	122839754	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:122839754G>A	uc001ucg.2	-	5	1266	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	CLIP1_uc001uch.1_Missense_Mutation_p.R371W|CLIP1_uc001uci.1_Missense_Mutation_p.R371W|CLIP1_uc001ucj.1_Missense_Mutation_p.R72W|CLIP1_uc009zxo.1_5'Flank|CLIP1_uc010tae.2_Intron	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	371					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCCAGATCCCGTTCCGCCAGC	0.632													A	122839754	G	A	122839754	3	1	215	1	0	0	0	0	1	0	0	0	3532	1144	40	1	3252	1	CLIP1	12	122839754	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	65268384	122839754	11012141	29	14782											
TMEM132D	121256	broad.mit.edu	37	12	129694161	129694161	+	Silent	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:129694161G>A	uc009zyl.1	-	4	1675	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	449						integral to membrane		p.A449V(1)		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)		TCACCGGGACGGCCACCGTCT	0.572													A	129694161	G	A	129694161	2	1	215	1	0	0	0	0	0	0	0	1	16044	1103	39	2		2	TMEM132D	12	129694161	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08	6854407	129694161	4157734	30	14783											
OR6S1	341799	broad.mit.edu	37	14	21109809	21109809	+	Silent	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr14:21109809G>A	uc001vxv.1	-	0	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGCCAGGACGAACTCTGTTG	0.453													A	21109809	G	A	21109809	2	1	215	1	0	0	0	0	0	0	0	1	11209	1049	37	2		2	OR6S1	14	21109809	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08		21109809	86239731	31	14784											
VPS18	57617	broad.mit.edu	37	15	41191139	41191139	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:41191139G>A	uc001zne.3	+	2	607	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	90					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCCAACCACGTGGAGCTGGG	0.488													A	41191139	G	A	41191139	3	1	215	1	0	0	0	0	1	0	0	0	17191	1145	40	1	278	1	VPS18	15	41191139	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		41191139	61340253	32	14785											
SLC30A4	7782	broad.mit.edu	37	15	45814527	45814527	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:45814527C>T	uc001zvj.3	-	1	338	c.26G>A	c.(25-27)cGc>cAc	p.R9H	HMGN2P46_uc010beg.1_Intron|HMGN2P46_uc010beh.1_Intron|HMGN2P46_uc010bei.1_Intron|HMGN2P46_uc010bej.1_Intron|HMGN2P46_uc001zvn.1_Intron|HMGN2P46_uc001zvm.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	9					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGATTTGAGGCGCTTCCACGC	0.652													T	45814527	C	T	45814527	3	4	215	1	0	0	0	0	1	0	0	0	14557	768	27	1	1291	1	SLC30A4	15	45814527	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	4623388	45814527	56716865	33	14786											
SHCBP1	79801	broad.mit.edu	37	16	46615749	46615749	+	Silent	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr16:46615749C>T	uc002eec.4	-	12	1951	c.1911G>A	c.(1909-1911)ggG>ggA	p.G637G		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	637										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTTGCGTGATCCCCAGTTCAC	0.433													T	46615749	C	T	46615749	2	4	215	1	0	0	0	0	0	0	0	1	14274	842	30	3		3	SHCBP1	16	46615749	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		46615749	43739004	34	14787											
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Silent	SNP	C	C	T	rs55863639		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:7579312C>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice|TP53_uc010cnk.1_Splice_Site_p.T140_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537		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)			T	7579312	C	T	7579312	2	4	215	1	0	0	0	0	0	0	0	1	16378	666	23	2		2	TP53	17	7579312	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		7579312	73615898	35	14788											
MYH2	4620	broad.mit.edu	37	17	10432722	10432722	+	Nonsense_Mutation	SNP	A	A	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:10432722A>T	uc010coi.3	-	24	3322	c.3194T>A	c.(3193-3195)tTg>tAg	p.L1065*	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.L1065*|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1065					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						GGCCAACTTCAAGTCACCCTC	0.373													T	10432722	A	T	10432722	4	4	215	1	0	0	0	0	0	1	0	0	10035	131	5	5	2695	5	MYH2	17	10432722	Nonsense_Mutation	SNP	A	TCGA-28-5215-01A-01D-1486-08	2853410	10432722	70762488	36	14789											
NR1D1	9572	broad.mit.edu	37	17	38252312	38252312	+	Silent	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:38252312T>C	uc002htz.2	-	4	1259	c.633A>G	c.(631-633)cgA>cgG	p.R211R	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	211					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCTGCTTCTCTCGTTTGGGGA	0.562													C	38252312	T	C	38252312	2	2	215	1	0	0	0	0	0	0	0	1	10615	1538	54	4		4	NR1D1	17	38252312	Silent	SNP	T	TCGA-28-5215-01A-01D-1486-08	27819590	38252312	42942898	37	14790											
KRT17	3872	broad.mit.edu	37	17	39780481	39780481	+	Missense_Mutation	SNP	C	C	T	rs28928897		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:39780481C>T	uc002hxh.2	-	0	402	c.281G>A	c.(280-282)cGc>cAc	p.R94H	JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.R94H	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	94	Coil 1A.|Rod.		Missing (in PC2).|R -> C (in PC2 and SM).|R -> H (in SM).|R -> P (in PC2).	Missing (in Ref. 5; AAH72018).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGAGGCCAGGCGGTCATTGAG	0.627													T	39780481	C	T	39780481	3	4	215	1	0	0	0	0	1	0	0	0	8454	768	27	1	1049	1	KRT17	17	39780481	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	1528169	39780481	41414729	38	14791											
HELZ	9931	broad.mit.edu	37	17	65157047	65157047	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:65157047C>T	uc010wqk.2	-	15	2228	c.2041G>A	c.(2041-2043)Gct>Act	p.A681T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.A681T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTTTGACAGCCTGAGCTAGA	0.493													T	65157047	C	T	65157047	3	4	215	1	0	0	0	0	1	0	0	0	7049	739	26	3	3859	3	HELZ	17	65157047	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	25376566	65157047	16038163	39	14792											
EPB41L3	23136	broad.mit.edu	37	18	5434010	5434010	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr18:5434010T>C	uc002kmt.1	-	6	802	c.716A>G	c.(715-717)gAc>gGc	p.D239G	EPB41L3_uc010wzh.1_Missense_Mutation_p.D239G|EPB41L3_uc002kmu.1_Missense_Mutation_p.D239G|EPB41L3_uc010dkq.1_Missense_Mutation_p.D130G|EPB41L3_uc010dks.1_Missense_Mutation_p.D261G|EPB41L3_uc002kmv.1_Missense_Mutation_p.D130G	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	239	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G238R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGGGTCATAGTCTCCGAGCTC	0.522													C	5434010	T	C	5434010	3	2	215	1	0	0	0	0	1	0	0	0	5154	1667	58	4	2611	4	EPB41L3	18	5434010	Missense_Mutation	SNP	T	TCGA-28-5215-01A-01D-1486-08		5434010	72643238	40	14793											
CABIN1	23523	broad.mit.edu	37	22	24452748	24452748	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr22:24452748G>A	uc002zzi.1	+	9	1314	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	CABIN1_uc021wnc.1_Missense_Mutation_p.R346H|CABIN1_uc002zzj.1_Missense_Mutation_p.R346H|CABIN1_uc002zzl.2_Missense_Mutation_p.R396H|CABIN1_uc010guk.1_Missense_Mutation_p.R351H|CABIN1_uc002zzk.2_Missense_Mutation_p.R351H	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	396					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGGTCTGCCCGTGTCCGAAAC	0.448													A	24452748	G	A	24452748	3	1	215	1	0	0	0	0	1	0	0	0	2528	1145	40	1	1221	1	CABIN1	22	24452748	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		24452748	26851818	41	14794											
DCAF8L2	347442	broad.mit.edu	37	X	27765562	27765562	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:27765562C>T	uc011mjy.2	+	0	637	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGCCCTGCCCCGACCTCGCTG	0.612													T	27765562	C	T	27765562	4	4	215	1	0	0	0	0	0	1	0	0	4278	644	23	2	552	2	DCAF8L2	23	27765562	Nonsense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		27765562	127504998	42	14795											
ZNF630	57232	broad.mit.edu	37	X	47918931	47918931	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:47918931G>C	uc004div.4	-	4	1152	c.900C>G	c.(898-900)ttC>ttG	p.F300L	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Missense_Mutation_p.F286L|ZNF630_uc022bvs.1_Missense_Mutation_p.F300L	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ATTTCTCACTGAAGGCTTTCC	0.413													C	47918931	G	C	47918931	3	2	215	1	0	0	0	0	1	0	0	0	18051	1281	45	5	1077	5	ZNF630	23	47918931	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	20153369	47918931	107351629	43	14796											
DCX	1641	broad.mit.edu	37	X	110644549	110644549	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:110644549T>G	uc004epd.3	-	2	789	c.617A>C	c.(616-618)tAt>tCt	p.Y206S	DCX_uc011msv.2_Missense_Mutation_p.Y206S|DCX_uc004epe.3_Missense_Mutation_p.Y125S|DCX_uc004epf.3_Missense_Mutation_p.Y125S|DCX_uc004epg.3_Missense_Mutation_p.Y125S	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	206	Doublecortin 1.		Y -> D (in SBHX).|Y -> H (in LISX1 and SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.Y206F(2)|p.Y125F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGAACAGACATAGCTTTCCCC	0.378													G	110644549	T	G	110644549	3	3	215	1	0	0	0	0	1	0	0	0	4318	1406	49	5	743	5	DCX	23	110644549	Missense_Mutation	SNP	T	TCGA-28-5215-01A-01D-1486-08	62725618	110644549	44626011	44	14797											
AIFM1	9131	broad.mit.edu	37	X	129264005	129264005	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:129264005G>T	uc004evg.3	-	14	1941	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	AIFM1_uc011mur.2_Missense_Mutation_p.D218E|AIFM1_uc011mus.2_3'UTR|AIFM1_uc004evh.3_Missense_Mutation_p.D566E|AIFM1_uc004evi.3_Missense_Mutation_p.D283E|AIFM1_uc004evk.3_Missense_Mutation_p.D218E	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	570					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CGACCACTTTGTCCCTGAGGT	0.517													T	129264005	G	T	129264005	3	4	215	1	0	0	0	0	1	0	0	0	426	1368	48	5	139	5	AIFM1	23	129264005	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	18619456	129264005	26006555	45	14798											
ATP6AP1	537	broad.mit.edu	37	X	153663708	153663708	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:153663708G>A	uc004flf.1	+	8	1121	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.A314T|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	354					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCTCCGTCGCCTACTTCAA	0.597													A	153663708	G	A	153663708	3	1	215	1	0	0	0	0	1	0	0	0	1165	1087	38	1	1094	1	ATP6AP1	23	153663708	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	24399703	153663708	1606852	46	14799											
ABCA4	24	broad.mit.edu	37	1	94512564	94512564	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:94512564C>T	uc001dqh.3	-	18	2933	c.2829G>A	c.(2827-2829)cgG>cgA	p.R943R	ABCA4_uc010otn.1_Silent_p.R869R	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	943	ABC transporter 1.		R -> Q (in linkage disequilibrium with A- 863 in the European population; dbSNP:rs1801581).|R -> W (in STGD1 and FFM).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGCTGGCCGGCCACAGG	0.522													T	94512564	C	T	94512564	2	4	216	1	0	0	0	0	0	0	0	1	34	726	26	3		3	ABCA4	1	94512564	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08		94512564	154738057	1	14800											
PSMD4	5710	broad.mit.edu	37	1	151237667	151237667	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:151237667A>G	uc001exl.3	+	4	457	c.395A>G	c.(394-396)aAg>aGg	p.K132R		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	132	VWFA.				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|DNA repair|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|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			AAACGCCTCAAGAAGGAGAAA	0.453													G	151237667	A	G	151237667	3	3	216	1	0	0	0	0	1	0	0	0	12700	72	3	4	413	4	PSMD4	1	151237667	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	56725103	151237667	98012954	2	14801											
XCL1	6375	broad.mit.edu	37	1	168549318	168549318	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:168549318T>G	uc001gfo.2	+	1	244	c.79T>G	c.(79-81)Tca>Gca	p.S27A		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	27					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGTGAAGTCTCAGATAAGAG	0.433													G	168549318	T	G	168549318	3	3	216	1	0	0	0	0	1	0	0	0	17420	1551	54	5	85	5	XCL1	1	168549318	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08	17311651	168549318	80701303	3	14802											
HHIPL2	79802	broad.mit.edu	37	1	222717273	222717273	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:222717273G>C	uc001hnh.1	-	1	638	c.580C>G	c.(580-582)Ctg>Gtg	p.L194V		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	194					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ACCATGCCCAGGTGGCGGTTG	0.607													C	222717273	G	C	222717273	3	2	216	1	0	0	0	0	1	0	0	0	7094	991	35	5	1626	5	HHIPL2	1	222717273	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	54167955	222717273	26533348	4	14803											
GPN1	11321	broad.mit.edu	37	2	27861753	27861753	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:27861753C>T	uc010ymc.2	+	9	634	c.613_splice	c.e9-1	p.T205_splice	GPN1_uc010ezf.3_Splice_Site_p.T179_splice|GPN1_uc010yma.2_Splice_Site_p.T112_splice|GPN1_uc010ymb.2_Splice_Site_p.T96_splice|GPN1_uc010ymd.2_Splice_Site_p.T86_splice|GPN1_uc010ezg.1_Splice_Site_p.T86_splice	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN	Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.	191						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CTGGTACAGACTGACATCATT	0.393													T	27861753	C	T	27861753	3	4	216	1	0	0	0	0	1	0	0	0	6617	579	20	3	731	3	GPN1	2	27861753	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		27861753	215337620	5	14804											
TTN	7273	broad.mit.edu	37	2	179496000	179496000	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:179496000A>C	uc021vsy.1	-	185	36296	c.36071T>G	c.(36070-36072)cTt>cGt	p.L12024R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L5719R|TTN_uc021vta.1_Missense_Mutation_p.L5652R|TTN_uc021vtb.1_Missense_Mutation_p.L5527R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12951	Pro-rich.						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)			ATAATCTTGAAGTTTTCCTGT	0.348													C	179496000	A	C	179496000	3	2	216	1	0	0	0	0	1	0	0	0	16732	72	3	5	64422	5	TTN	2	179496000	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	151634247	179496000	63703373	6	14805											
DNAH7	56171	broad.mit.edu	37	2	196753131	196753131	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:196753131C>G	uc002utj.4	-	32	5358	c.5257G>C	c.(5257-5259)Gag>Cag	p.E1753Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1753	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						ATGTGAGGCTCCATGTAAATC	0.393													G	196753131	C	G	196753131	3	3	216	1	0	0	0	0	1	0	0	0	4606	864	30	5	6949	5	DNAH7	2	196753131	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	17257131	196753131	46446242	7	14806											
ZDBF2	57683	broad.mit.edu	37	2	207171009	207171009	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:207171009A>G	uc002vbp.2	+	4	2007	c.1757A>G	c.(1756-1758)gAt>gGt	p.D586G		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	586							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTGATTGTGATGTTTCTCTT	0.428													G	207171009	A	G	207171009	3	3	216	1	0	0	0	0	1	0	0	0	17596	333	12	4	1767	4	ZDBF2	2	207171009	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	10417878	207171009	36028364	8	14807											
ZNF860	344787	broad.mit.edu	37	3	32031844	32031844	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:32031844T>G	uc011axg.2	+	1	1822	c.1273T>G	c.(1273-1275)Tct>Gct	p.S425A	ZNF860_uc021wuv.1_Missense_Mutation_p.S425A	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TGAAGAGAGATCTTACAAGTG	0.348													G	32031844	T	G	32031844	3	3	216	1	0	0	0	0	1	0	0	0	18191	1435	50	5	1275	5	ZNF860	3	32031844	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08		32031844	165990586	9	14808											
SETD2	29072	broad.mit.edu	37	3	47127761	47127761	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:47127761T>C	uc003cqv.3	-	11	5608	c.5522A>G	c.(5521-5523)cAt>cGt	p.H1841R	SETD2_uc003cqs.3_Missense_Mutation_p.H1774R|SETD2_uc003cqt.1_5'Flank	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGACAGCCCATGACGTTCCAG	0.498			"N, F, S, Mis"		clear cell renal carcinoma								C	47127761	T	C	47127761	3	2	216	1	0	0	0	0	1	0	0	0	14131	1464	51	4	2417	4	SETD2	3	47127761	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08	15095917	47127761	150894669	10	14809											
MST1	4485	broad.mit.edu	37	3	49723304	49723304	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:49723304C>T	uc003cxg.3	-	9	1311	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MST1_uc011bcs.1_Missense_Mutation_p.R452H	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	399	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682													T	49723304	C	T	49723304	2	4	216	1	0	0	0	0	0	0	0	1	9890	755	27	1		1	MST1	3	49723304	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	2595543	49723304	148299126	11	14810											
SLMAP	7871	broad.mit.edu	37	3	57898233	57898233	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:57898233G>T	uc003dje.1	+	17	1979	c.1774G>T	c.(1774-1776)Gca>Tca	p.A592S	SLMAP_uc003djd.1_Missense_Mutation_p.A575S|SLMAP_uc003djf.1_Missense_Mutation_p.A554S|SLMAP_uc003djg.1_Missense_Mutation_p.A186S|SLMAP_uc011bez.1_Missense_Mutation_p.A60S|SLMAP_uc011bfa.1_Missense_Mutation_p.A126S|SLMAP_uc003djh.3_Missense_Mutation_p.A85S|SLMAP_uc003dji.1_Missense_Mutation_p.A126S|SLMAP_uc011bfb.1_Missense_Mutation_p.A126S|SLMAP_uc011bfc.1_Missense_Mutation_p.A85S	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	592					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAAGCAGCAGCAAAGGTTGC	0.483													T	57898233	G	T	57898233	3	4	216	1	0	0	0	0	1	0	0	0	14749	971	34	5	1789	5	SLMAP	3	57898233	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	8174929	57898233	140124197	12	14811											
KIAA1109	84162	broad.mit.edu	37	4	123238013	123238013	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr4:123238013C>G	uc003ieh.3	+	59	10711	c.10666C>G	c.(10666-10668)Ctg>Gtg	p.L3556V	KIAA1109_uc003iel.1_Missense_Mutation_p.L1491V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3556					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATAGATGATCTGAAGTATGT	0.328													G	123238013	C	G	123238013	3	3	216	1	0	0	0	0	1	0	0	0	8208	912	32	5	10904	5	KIAA1109	4	123238013	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		123238013	67916263	13	14812											
ZNF608	57507	broad.mit.edu	37	5	124080387	124080387	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr5:124080387T>G	uc003ktq.1	-	0	479	c.296A>C	c.(295-297)aAa>aCa	p.K99T	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Missense_Mutation_p.K99T|ZNF608_uc003ktt.1_Missense_Mutation_p.K99T	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	99						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCTGGTCTCTTTGTGTGAATT	0.507													G	124080387	T	G	124080387	3	3	216	1	0	0	0	0	1	0	0	0	18031	1841	64	5	4278	5	ZNF608	5	124080387	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08		124080387	56834873	14	14813											
PCDHAC2	56147	broad.mit.edu	37	5	140166327	140166327	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr5:140166327G>A	uc003lhb.2	+	0	452	c.452G>A	c.(451-453)cGt>cAt	p.R151H	PCDHAC2_uc003lha.2_Missense_Mutation_p.R151H|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R151H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	166	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R150Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAATTCGCGTTTTCCGATA	0.448													A	140166327	G	A	140166327	3	1	216	1	0	0	0	0	1	0	0	0	11533	1145	40	1		1	PCDHAC2	5	140166327	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	16085940	140166327	40748933	15	14814											
MYLIP	29116	broad.mit.edu	37	6	16141881	16141881	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr6:16141881G>C	uc003nbq.3	+	2	541	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	MYLIP_uc003nbr.3_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	102	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCACATCAAGGAGGCCCTCTT	0.512													C	16141881	G	C	16141881	3	2	216	1	0	0	0	0	1	0	0	0	10055	1175	41	5	314	5	MYLIP	6	16141881	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		16141881	154973186	16	14815											
C7orf65	401335	broad.mit.edu	37	7	47698593	47698593	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:47698593C>A	uc010kyp.1	+	2	258	c.223C>A	c.(223-225)Cta>Ata	p.L75I		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	75										endometrium(1)|lung(2)	3						CAGGGAGCTGCTATTTCTGTT	0.502													A	47698593	C	A	47698593	3	1	216	1	0	0	0	0	1	0	0	0	2411	796	28	5	233	5	C7orf65	7	47698593	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		47698593	111440070	17	14816											
MUC17	140453	broad.mit.edu	37	7	100701312	100701312	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:100701312C>T	uc003uxp.1	+	12	13522	c.13469C>T	c.(13468-13470)aCg>aTg	p.T4490M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4490						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T4490T(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)					CAGGTAATGACGACATCATTT	0.493													T	100701312	C	T	100701312	3	4	216	1	0	0	0	0	1	0	0	0	9974	536	19	1	13519	1	MUC17	7	100701312	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	53002719	100701312	58437351	18	14817											
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:107416977C>G	uc003ver.2	-	14	1808	c.1597G>C	c.(1597-1599)Gaa>Caa	p.E533Q	SLC26A3_uc003ves.2_Missense_Mutation_p.E498Q	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(2)|p.P532Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378													G	107416977	C	G	107416977	3	3	216	1	0	0	0	0	1	0	0	0	14518	922	32	5	725	5	SLC26A3	7	107416977	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	6715665	107416977	51721686	19	14818											
OR6B1	135946	broad.mit.edu	37	7	143701298	143701298	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:143701298A>T	uc003wdt.1	+	0	209	c.209A>T	c.(208-210)gAg>gTg	p.E70V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCCTTCTTGGAGACCTGGTAC	0.458													T	143701298	A	T	143701298	3	4	216	1	0	0	0	0	1	0	0	0	11187	304	11	5	211	5	OR6B1	7	143701298	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	36284321	143701298	15437365	20	14819											
RUNX1T1	862	broad.mit.edu	37	8	93027036	93027036	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:93027036G>A	uc022axs.1	-	3	603	c.416C>T	c.(415-417)aCg>aTg	p.T139M	RUNX1T1_uc003yfc.2_Missense_Mutation_p.T53M|RUNX1T1_uc010mam.3_Missense_Mutation_p.T53M|RUNX1T1_uc003yfe.2_Missense_Mutation_p.T43M|RUNX1T1_uc003yfd.3_Missense_Mutation_p.T80M|RUNX1T1_uc022axo.1_Missense_Mutation_p.T80M|RUNX1T1_uc010mao.3_Missense_Mutation_p.T53M|RUNX1T1_uc011lgi.2_Missense_Mutation_p.T91M|RUNX1T1_uc022axp.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axq.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axr.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axt.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axu.1_Missense_Mutation_p.T60M|RUNX1T1_uc022axv.1_Missense_Mutation_p.T80M|RUNX1T1_uc003yfb.2_Missense_Mutation_p.T43M|RUNX1T1_uc003yff.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfg.2_Missense_Mutation_p.T43M	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	80	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGAATGGCTCGTGCCATTAGT	0.473													A	93027036	G	A	93027036	3	1	216	1	0	0	0	0	1	0	0	0	13747	1145	40	1	1611	1	RUNX1T1	8	93027036	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		93027036	53336986	21	14820											
KCNK9	51305	broad.mit.edu	37	8	140630517	140630517	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:140630517C>T	uc003yvf.1	-	1	1173	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KCNK9_uc003yvg.1_Missense_Mutation_p.R370H|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	370						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGACTTCCGGCGTTTCATCAG	0.453													T	140630517	C	T	140630517	3	4	216	1	0	0	0	0	1	0	0	0	8072	768	27	1	19	1	KCNK9	8	140630517	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	47603481	140630517	5733505	22	14821											
PLEC	5339	broad.mit.edu	37	8	144992145	144992145	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:144992145C>T	uc003zaf.1	-	31	12425	c.12255G>A	c.(12253-12255)tcG>tcA	p.S4085S	PLEC_uc003zab.1_Silent_p.S3948S|PLEC_uc003zac.1_Silent_p.S3952S|PLEC_uc003zad.2_Silent_p.S3948S|PLEC_uc003zae.1_Silent_p.S3916S|PLEC_uc003zag.1_Silent_p.S3926S|PLEC_uc003zah.2_Silent_p.S3934S|PLEC_uc003zaj.2_Silent_p.S3975S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4085	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTGGTACACCGAGAGCCGTT	0.612													T	144992145	C	T	144992145	2	4	216	1	0	0	0	0	0	0	0	1	12052	639	23	2		2	PLEC	8	144992145	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	4361628	144992145	1371877	23	14822											
PTEN	5728	broad.mit.edu	37	10	89653826	89653826	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr10:89653826C>G	uc001kfb.3	+	1	1156	c.124C>G	c.(124-126)Ctt>Gtt	p.L42V	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	42	Phosphatase tensin-type.		L -> R (in glioma; retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.L42R(6)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.L42P(1)|p.R41fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGAAAGACTTGAAGGCGT	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89653826	C	G	89653826	3	3	216	1	0	0	0	0	1	0	0	0	12738	565	20	5	130	5	PTEN	10	89653826	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		89653826	45880921	24	14823											
SLC18A2	6571	broad.mit.edu	37	10	119014867	119014867	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr10:119014867C>T	uc001ldd.2	+	6	943	c.780C>T	c.(778-780)ctC>ctT	p.L260L	SLC18A2_uc009xyy.2_Silent_p.L57L	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	260					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCCTGGTACTCTTGGATGGAG	0.627													T	119014867	C	T	119014867	2	4	216	1	0	0	0	0	0	0	0	1	14426	900	32	3		3	SLC18A2	10	119014867	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	29361041	119014867	16519880	25	14824											
OR51E1	143503	broad.mit.edu	37	11	4673967	4673967	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:4673967G>C	uc021qcq.1	+	0	211	c.211G>C	c.(211-213)Ggc>Cgc	p.G71R	OR51E1_uc001lzi.4_Missense_Mutation_p.G71R	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGCTTTCAGGCATTGACAT	0.453													C	4673967	G	C	4673967	3	2	216	1	0	0	0	0	1	0	0	0	11094	1000	35	5	213	5	OR51E1	11	4673967	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		4673967	130332549	26	14825											
OR4B1	119765	broad.mit.edu	37	11	48238725	48238725	+	Missense_Mutation	SNP	G	G	A	rs150231573	byFrequency	TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:48238725G>A	uc010rhs.2	+	0	364	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGATTGCTACGTGGCCATTTG	0.473													A	48238725	G	A	48238725	3	1	216	1	0	0	0	0	1	0	0	0	11044	1145	40	1	366	1	OR4B1	11	48238725	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	43564758	48238725	86767791	27	14826											
MS4A14	84689	broad.mit.edu	37	11	60164081	60164081	+	Silent	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:60164081A>T	uc001npj.3	+	0	595	c.30A>T	c.(28-30)gcA>gcT	p.A10A	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Silent_p.A10A|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	10						integral to membrane	receptor activity	p.A10D(2)|p.A10A(2)|p.A10E(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAGAAGGGCAACTCACGTCA	0.458													T	60164081	A	T	60164081	2	4	216	1	0	0	0	0	0	0	0	1	9858	117	5	5		5	MS4A14	11	60164081	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	11925356	60164081	74842435	28	14827											
P2RY2	5029	broad.mit.edu	37	11	72946285	72946285	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:72946285C>T	uc021qna.1	+	0	1081	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	P2RY2_uc001otk.3_Missense_Mutation_p.R361W|P2RY2_uc001otj.3_Missense_Mutation_p.R361W|P2RY2_uc001otl.3_Missense_Mutation_p.R361W	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	361					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R361P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGACTCTAGGCGGACAGAGTC	0.582													T	72946285	C	T	72946285	3	4	216	1	0	0	0	0	1	0	0	0	11352	759	27	1	1083	1	P2RY2	11	72946285	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	12782204	72946285	62060231	29	14828											
GDPD5	81544	broad.mit.edu	37	11	75160035	75160035	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:75160035C>T	uc001owo.4	-	9	1238	c.701G>A	c.(700-702)cGc>cAc	p.R234H	GDPD5_uc001owp.4_Missense_Mutation_p.R234H|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Missense_Mutation_p.R96H|GDPD5_uc009yud.3_Missense_Mutation_p.R115H|GDPD5_uc009yue.1_Missense_Mutation_p.R122H	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	234	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.R234H(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGGGGCCCCGCGGTGGCCAAT	0.607													T	75160035	C	T	75160035	3	4	216	1	0	0	0	0	1	0	0	0	6327	768	27	1	1152	1	GDPD5	11	75160035	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	2213750	75160035	59846481	30	14829											
USP35	57558	broad.mit.edu	37	11	77920718	77920718	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:77920718G>A	uc021qny.1	+	9	2173	c.1817G>A	c.(1816-1818)tGt>tAt	p.C606Y	USP35_uc001oze.2_Missense_Mutation_p.C362Y|USP35_uc001ozc.3_Missense_Mutation_p.C174Y|USP35_uc010rsp.2_Missense_Mutation_p.C38Y|USP35_uc001ozd.3_Missense_Mutation_p.C217Y|USP35_uc001ozf.3_Missense_Mutation_p.C337Y	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	606					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTGAGCGCTGTCGCCGCCGC	0.657													A	77920718	G	A	77920718	3	1	216	1	0	0	0	0	1	0	0	0	17063	1377	48	3	1851	3	USP35	11	77920718	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	2760683	77920718	57085798	31	14830											
HEPHL1	341208	broad.mit.edu	37	11	93803618	93803618	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:93803618G>A	uc001pep.2	+	5	1299	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	381	Plastocyanin-like 3.		R -> C (in dbSNP:rs12291622).		copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAACAGAGGCGCTACTTTATA	0.443													A	93803618	G	A	93803618	3	1	216	1	0	0	0	0	1	0	0	0	7055	1087	38	1	1164	1	HEPHL1	11	93803618	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	15882900	93803618	41202898	32	14831											
FUT4	2526	broad.mit.edu	37	11	94278241	94278244	+	Frame_Shift_Del	DEL	CAAC	CAAC	-			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:94278241_94278244delCAAC	uc001pez.3	+	0	1225_1228	c.942_945delCAAC	c.(940-945)ttcaacfs	p.F314fs	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	314					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTAACCTCTTCAACTGGACGCTCT	0.681													-	94278244	CAAC	-	94278241	7	5	216	1	0	1	0	1	0	0	0	0	6106	825	29	0	944	0	FUT4	11	94278241	Frame_Shift_Del	DEL	CAAC	TCGA-28-5216-01A-01D-1486-08	474623	94278241	40728275	33	14832											
SOX5	6660	broad.mit.edu	37	12	24048786	24048786	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:24048786A>G	uc001rfw.3	-	1	313	c.211T>C	c.(211-213)Tct>Cct	p.S71P	SOX5_uc001rfx.3_Missense_Mutation_p.S58P|SOX5_uc001rfy.3_Missense_Mutation_p.S58P|SOX5_uc010siv.2_Missense_Mutation_p.S58P|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.3_Intron	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	71					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GTCAGCAGAGAAACTGGCTGA	0.483													G	24048786	A	G	24048786	3	3	216	1	0	0	0	0	1	0	0	0	14954	246	9	4	2146	4	SOX5	12	24048786	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08		24048786	109803109	34	14833											
OR8S1	341568	broad.mit.edu	37	12	48919470	48919470	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:48919470C>T	uc010slu.2	+	0	56	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GGGCTGTCTGCCGACCCCAAC	0.512													T	48919470	C	T	48919470	3	4	216	1	0	0	0	0	1	0	0	0	11246	739	26	3	58	3	OR8S1	12	48919470	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	24870684	48919470	84932425	35	14834											
ADCY6	112	broad.mit.edu	37	12	49177053	49177053	+	Silent	SNP	G	G	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:49177053G>T	uc001rsh.4	-	0	825	c.165C>A	c.(163-165)ccC>ccA	p.P55P	ADCY6_uc001rsi.4_Silent_p.P55P|ADCY6_uc001rsj.4_Silent_p.P55P	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	55					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.P55A(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCGCAGGGGTGGGGCTGGGTG	0.726													T	49177053	G	T	49177053	2	4	216	1	0	0	0	0	0	0	0	1	298	1335	47	5		5	ADCY6	12	49177053	Silent	SNP	G	TCGA-28-5216-01A-01D-1486-08	257583	49177053	84674842	36	14835	18	2									
ADCY6	112	broad.mit.edu	37	12	49177063	49177063	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:49177063G>A	uc001rsh.4	-	0	815	c.155C>T	c.(154-156)cCa>cTa	p.P52L	ADCY6_uc001rsi.4_Missense_Mutation_p.P52L|ADCY6_uc001rsj.4_Missense_Mutation_p.P52L	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	52					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGGGCTGGGTGGCTCTGCATC	0.716													A	49177063	G	A	49177063	3	1	216	1	0	0	0	0	1	0	0	0	298	1348	47	3	3435	3	ADCY6	12	49177063	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	10	49177063	84674832	37	14836	18	2									
CEP290	80184	broad.mit.edu	37	12	88505570	88505570	+	Silent	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:88505570A>G	uc001tar.3	-	20	2462	c.2118T>C	c.(2116-2118)gaT>gaC	p.D706D	CEP290_uc001tat.3_Silent_p.D499D|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	706					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CGGTAAGCTGATCAACTTGGG	0.368													G	88505570	A	G	88505570	2	3	216	1	0	0	0	0	0	0	0	1	3253	330	12	4		4	CEP290	12	88505570	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	39328507	88505570	45346325	38	14837											
ARL1	400	broad.mit.edu	37	12	101796696	101796696	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:101796696C>T	uc001tib.3	-	2	320	c.171G>A	c.(169-171)acG>acA	p.T57T	ARL1_uc010svn.2_Silent_p.T11T|ARL1_uc010svo.2_Non-coding_Transcript	NM_001177	NP_001168	P40616	ARL1_HUMAN	Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.	57					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	p.T57T(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GGTTTTTGTACGTCACCGTCT	0.358													T	101796696	C	T	101796696	2	4	216	1	0	0	0	0	0	0	0	1	925	523	19	1		1	ARL1	12	101796696	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	13291126	101796696	32055199	39	14838											
SACS	26278	broad.mit.edu	37	13	23911703	23911703	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr13:23911703C>T	uc001uon.2	-	9	6901	c.6312G>A	c.(6310-6312)ggG>ggA	p.G2104G	SACS_uc001uoo.2_Silent_p.G1957G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2104					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.Q2104E(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAAAGGATGCCCCTCCAAGG	0.403													T	23911703	C	T	23911703	2	4	216	1	0	0	0	0	0	0	0	1	13804	726	26	3		3	SACS	13	23911703	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08		23911703	91258175	40	14839											
HEATR5A	25938	broad.mit.edu	37	14	31816973	31816973	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr14:31816973C>T	uc001wrf.4	-	18	3034	c.2849G>A	c.(2848-2850)aGc>aAc	p.S950N	HEATR5A_uc010ami.3_Missense_Mutation_p.S555N|HEATR5A_uc001wrg.1_Missense_Mutation_p.S539N|HEATR5A_uc010tpk.1_Missense_Mutation_p.S950N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	944							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGGAGAAGTGCTGTCCTGCGC	0.383													T	31816973	C	T	31816973	3	4	216	1	0	0	0	0	1	0	0	0	7031	797	28	3	3363	3	HEATR5A	14	31816973	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		31816973	75532567	41	14840											
GPR132	29933	broad.mit.edu	37	14	105518249	105518249	+	Silent	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr14:105518249G>A	uc001yqd.3	-	3	1124	c.225C>T	c.(223-225)aaC>aaT	p.N75N	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Silent_p.N66N	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	75					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGGCCAGCACGTTGCCCTGCA	0.647													A	105518249	G	A	105518249	2	1	216	1	0	0	0	0	0	0	0	1	6642	1136	40	1		1	GPR132	14	105518249	Silent	SNP	G	TCGA-28-5216-01A-01D-1486-08	73701276	105518249	1831291	42	14841											
C15orf55	256646	broad.mit.edu	37	15	34640826	34640826	+	Missense_Mutation	SNP	C	C	T	rs138533937		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:34640826C>T	uc010ucc.2	+	2	1139	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	C15orf55_uc010ucd.2_Missense_Mutation_p.R243W|C15orf55_uc001zif.3_Missense_Mutation_p.R225W	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	225						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AGCCTTGGCCCGGAGGCACCT	0.483			T	"BRD3, BRD4"	lethal midline carcinoma								T	34640826	C	T	34640826	3	4	216	1	0	0	0	0	1	0	0	0	1803	643	23	2	679	2	C15orf55	15	34640826	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		34640826	67890566	43	14842											
TRPM7	54822	broad.mit.edu	37	15	50935595	50935595	+	Silent	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:50935595A>G	uc001zyt.4	-	4	759	c.477T>C	c.(475-477)ggT>ggC	p.G159G	TRPM7_uc010bew.2_Silent_p.G159G	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	159					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTTTAATAAGACCTTTTCCAA	0.383													G	50935595	A	G	50935595	2	3	216	1	0	0	0	0	0	0	0	1	16588	262	10	4		4	TRPM7	15	50935595	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	16294769	50935595	51595797	44	14843											
KIF7	374654	broad.mit.edu	37	15	90189143	90189143	+	Missense_Mutation	SNP	G	G	A	rs150543610		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:90189143G>A	uc002bof.2	-	7	1980	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	KIF7_uc010upw.1_Missense_Mutation_p.R122W	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	635					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTAAGGTCCGCCTGGGCGGc	0.652													A	90189143	G	A	90189143	3	1	216	1	0	0	0	0	1	0	0	0	8309	1086	38	1	2176	1	KIF7	15	90189143	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	39253548	90189143	12342249	45	14844											
UMOD	7369	broad.mit.edu	37	16	20357616	20357616	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr16:20357616A>T	uc002dhb.3	-	5	1242	c.1113T>A	c.(1111-1113)aaT>aaA	p.N371K	UMOD_uc002dgz.3_Missense_Mutation_p.N338K|UMOD_uc002dha.3_Missense_Mutation_p.N338K	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	338	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			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCTTCATGTCATTGGCCCCAC	0.557													T	20357616	A	T	20357616	3	4	216	1	0	0	0	0	1	0	0	0	16976	214	8	5	936	5	UMOD	16	20357616	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08		20357616	69997137	46	14845											
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	rs67185453		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:7577535C>A	uc002gim.2	-	6	940	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.3_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R248Q(565)|p.R248W(513)|p.R249S(326)|p.R248L(70)|p.R249M(69)|p.R249K(36)|p.R249T(32)|p.R249W(31)|p.R249G(28)|p.R248P(16)|p.R248G(12)|p.R249fs*96(10)|p.R248R(10)|p.0?(8)|p.R249R(6)|p.?(5)|p.M246_P250delMNRRP(4)|p.R249fs*14(3)|p.N247_P250delNRRP(2)|p.R249_I251delRPI(2)|p.N247_R248>KW(2)|p.R249_P250delRP(2)|p.N247_R248delNR(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248fs*97(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250insR(1)|p.R248Y(1)|p.R248C(1)|p.N247_R248>IP(1)|p.R249_P250>SS(1)|p.R248fs*16(1)|p.R249fs*15(1)|p.R249fs*19(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)		GAGGATGGGCCTCCGGTTCAT	0.567		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)			A	7577535	C	A	7577535	3	1	216	1	0	0	0	0	1	0	0	0	16378	681	24	5	544	5	TP53	17	7577535	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		7577535	73617675	47	14846											
CHD3	1107	broad.mit.edu	37	17	7811263	7811263	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:7811263G>A	uc002gjd.2	+	33	5257	c.5255G>A	c.(5254-5256)cGg>cAg	p.R1752Q	CHD3_uc002gje.2_Missense_Mutation_p.R1693Q|CHD3_uc002gjf.2_Missense_Mutation_p.R1659Q|CHD3_uc002gjh.2_Missense_Mutation_p.R270Q|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1693	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GATGAGCCACGGTCCAATGGG	0.567													A	7811263	G	A	7811263	3	1	216	1	0	0	0	0	1	0	0	0	3326	1116	39	2	5493	2	CHD3	17	7811263	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	233728	7811263	73383947	48	14847											
MYH2	4620	broad.mit.edu	37	17	10428377	10428377	+	Silent	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:10428377A>G	uc010coi.3	-	33	4796	c.4668T>C	c.(4666-4668)tcT>tcC	p.S1556S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.S1556S|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1556					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						CATGTTCAAGAGATGCCTTAA	0.388													G	10428377	A	G	10428377	2	3	216	1	0	0	0	0	0	0	0	1	10035	291	11	4		4	MYH2	17	10428377	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	2617114	10428377	70766833	49	14848											
ABCA8	10351	broad.mit.edu	37	17	66924136	66924136	+	Silent	SNP	A	A	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:66924136A>T	uc002jhq.3	-	9	1534	c.1194T>A	c.(1192-1194)atT>atA	p.I398I	ABCA8_uc002jhp.3_Silent_p.I398I|ABCA8_uc010wqq.2_Silent_p.I398I|ABCA8_uc010wqr.2_Silent_p.I337I|ABCA8_uc002jhr.3_Silent_p.I398I	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	398						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGTTGCTACAATGAGATTTG	0.328													T	66924136	A	T	66924136	2	4	216	1	0	0	0	0	0	0	0	1	38	126	5	5		5	ABCA8	17	66924136	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	56495759	66924136	14271074	50	14849											
DSG3	1830	broad.mit.edu	37	18	29052349	29052349	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr18:29052349A>G	uc002kws.3	+	12	2109	c.2000A>G	c.(1999-2001)cAt>cGt	p.H667R	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	667					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAACAATTCATCAGTGGGGA	0.448													G	29052349	A	G	29052349	3	3	216	1	0	0	0	0	1	0	0	0	4778	217	8	4	2050	4	DSG3	18	29052349	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08		29052349	49024899	51	14850											
ZFR2	23217	broad.mit.edu	37	19	3823274	3823274	+	Silent	SNP	C	C	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:3823274C>A	uc002lyw.2	-	7	1353	c.1341G>T	c.(1339-1341)gcG>gcT	p.A447A	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	447						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCACCGGCTGCGCATCAGAGC	0.622													A	3823274	C	A	3823274	2	1	216	1	0	0	0	0	0	0	0	1	17657	755	27	5		5	ZFR2	19	3823274	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08		3823274	55305709	52	14851											
RFX1	5989	broad.mit.edu	37	19	14079442	14079442	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:14079442C>T	uc002mxv.3	-	11	1939	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	556					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGCTGCTGCCCCACCGCCAC	0.662													T	14079442	C	T	14079442	3	4	216	1	0	0	0	0	1	0	0	0	13262	623	22	3	1312	3	RFX1	19	14079442	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	10256168	14079442	45049541	53	14852											
CPAMD8	27151	broad.mit.edu	37	19	17013524	17013524	+	Silent	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:17013524G>A	uc002nfb.3	-	34	4793	c.4761C>T	c.(4759-4761)gaC>gaT	p.D1587D	CPAMD8_uc002nfd.1_Silent_p.D52D	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1540						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTCATCATCGTCAGCTGGGG	0.662													A	17013524	G	A	17013524	2	1	216	1	0	0	0	0	0	0	0	1	3795	1136	40	1		1	CPAMD8	19	17013524	Silent	SNP	G	TCGA-28-5216-01A-01D-1486-08	2934082	17013524	42115459	54	14853											
CEACAM20	125931	broad.mit.edu	37	19	45021085	45021085	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:45021085C>T	uc010ejn.1	-	5	1247	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	CEACAM20_uc010ejo.1_Missense_Mutation_p.D411N|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	411	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TAGATCCCGTCGTGTTCCCAG	0.592													T	45021085	C	T	45021085	3	4	216	1	0	0	0	0	1	0	0	0	3191	884	31	2	588	2	CEACAM20	19	45021085	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	28007561	45021085	14107898	55	14854											
VN1R2	317701	broad.mit.edu	37	19	53761868	53761868	+	Silent	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:53761868C>T	uc002qbi.2	+	0	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	80					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctctgcacacggagagaaac	0.458													T	53761868	C	T	53761868	2	4	216	1	0	0	0	0	0	0	0	1	17176	535	19	1		1	VN1R2	19	53761868	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	8740783	53761868	5367115	56	14855											
MMP9	4318	broad.mit.edu	37	20	44639814	44639814	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr20:44639814G>A	uc002xqz.3	+	4	701	c.682G>A	c.(682-684)Gcg>Acg	p.A228T		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	228	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.A228A(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGCAGATGGCGCGGCCTGCCA	0.637													A	44639814	G	A	44639814	3	1	216	1	0	0	0	0	1	0	0	0	9669	1087	38	1	700	1	MMP9	20	44639814	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		44639814	18385706	57	14856											
SALL4	57167	broad.mit.edu	37	20	50408434	50408434	+	Silent	SNP	C	C	A	rs143754390		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr20:50408434C>A	uc002xwh.4	-	1	689	c.588G>T	c.(586-588)cgG>cgT	p.R196R	SALL4_uc010gii.3_Silent_p.R196R|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	196					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCGCGCTCCGCTGATTCA	0.602													A	50408434	C	A	50408434	2	1	216	1	0	0	0	0	0	0	0	1	13813	842	30	5		5	SALL4	20	50408434	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	5768620	50408434	12617086	58	14857											
CXorf65	158830	broad.mit.edu	37	X	70325861	70325861	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chrX:70325861C>T	uc011mpo.2	-	2	471	c.239G>A	c.(238-240)cGt>cAt	p.R80H	CXorf65_uc011mpp.2_Missense_Mutation_p.R32H	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	80										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TGGTGGCCCACGTTCCACCTT	0.453													T	70325861	C	T	70325861	3	4	216	1	0	0	0	0	1	0	0	0	4117	536	19	1	328	1	CXorf65	23	70325861	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		70325861	84944699	59	14858											
ZBTB40	9923	broad.mit.edu	37	1	22835047	22835047	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:22835047G>T	uc001bft.2	+	8	2033	c.1522G>T	c.(1522-1524)Gac>Tac	p.D508Y	ZBTB40_uc001bfu.2_Missense_Mutation_p.D508Y|ZBTB40_uc009vqi.1_Missense_Mutation_p.D396Y|ZBTB40_uc001bfv.1_Missense_Mutation_p.D137Y	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	508					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTGAAACGTGACTCTGGTTC	0.483													T	22835047	G	T	22835047	3	4	217	1	0	0	0	0	1	0	0	0	17539	1290	45	5	1548	5	ZBTB40	1	22835047	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		22835047	226415574	1	14859											
HMCN1	83872	broad.mit.edu	37	1	186121993	186121993	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:186121993T>G	uc001grq.1	+	95	15237	c.15008T>G	c.(15007-15009)gTc>gGc	p.V5003G	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.V572G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5003	Nidogen G2 beta-barrel.				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						CCTGCTGAAGTCACTGTAAAG	0.438													G	186121993	T	G	186121993	3	3	217	1	0	0	0	0	1	0	0	0	7220	1667	58	5	15390	5	HMCN1	1	186121993	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	163286946	186121993	63128628	2	14860											
OBSCN	84033	broad.mit.edu	37	1	228559651	228559651	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:228559651C>T	uc009xez.1	+	93	21216	c.21172C>T	c.(21172-21174)Cct>Tct	p.P7058S	OBSCN_uc001hsr.1_Missense_Mutation_p.P1687S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7058	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCATGCCCTCCTGGCTCCTT	0.672													T	228559651	C	T	228559651	3	4	217	1	0	0	0	0	1	0	0	0	10812	855	30	3	22752	3	OBSCN	1	228559651	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	42437658	228559651	20690970	3	14861											
KIAA1804	84451	broad.mit.edu	37	1	233518426	233518426	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:233518426T>C	uc001hvt.4	+	9	3341	c.3080T>C	c.(3079-3081)aTa>aCa	p.I1027T	KIAA1804_uc001hvu.4_Missense_Mutation_p.I473T	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	1027					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CGGCCATCTATATATGAACTG	0.428													C	233518426	T	C	233518426	3	2	217	1	0	0	0	0	1	0	0	0	8259	1406	49	4	3118	4	KIAA1804	1	233518426	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	4958775	233518426	15732195	4	14862											
FIGN	55137	broad.mit.edu	37	2	164467616	164467616	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr2:164467616G>A	uc002uck.1	-	2	1037	c.726C>T	c.(724-726)ctC>ctT	p.L242L		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	242	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGTAACTGGAGAGGTTAGAAG	0.612													A	164467616	G	A	164467616	2	1	217	1	0	0	0	0	0	0	0	1	5891	929	33	3		3	FIGN	2	164467616	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08		164467616	78731757	5	14863											
SENP5	205564	broad.mit.edu	37	3	196613120	196613120	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr3:196613120G>A	uc003fwz.4	+	1	1317	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	SENP5_uc011bty.2_Nonsense_Mutation_p.W356*	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	356					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CAAACGCCTGGGACCAGTCAT	0.468													A	196613120	G	A	196613120	4	1	217	1	0	0	0	0	0	1	0	0	14049	1241	43	3	1070	3	SENP5	3	196613120	Nonsense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		196613120	1409310	6	14864											
OR2J2	26707	broad.mit.edu	37	6	29142195	29142195	+	Silent	SNP	C	C	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr6:29142195C>G	uc011dlm.2	+	0	885	c.783C>G	c.(781-783)ctC>ctG	p.L261L		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCATGTATCTCCAGCCACCAT	0.433													G	29142195	C	G	29142195	2	3	217	1	0	0	0	0	0	0	0	1	11003	842	30	5		5	OR2J2	6	29142195	Silent	SNP	C	TCGA-28-5218-01A-01D-1486-08		29142195	141972872	7	14865											
MUC17	140453	broad.mit.edu	37	7	100677921	100677921	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr7:100677921C>T	uc003uxp.1	+	2	3277	c.3224C>T	c.(3223-3225)aCt>aTt	p.T1075I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1075	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					CCTGTGACCACTTATTCTCAA	0.488													T	100677921	C	T	100677921	3	4	217	1	0	0	0	0	1	0	0	0	9974	565	20	3	3234	3	MUC17	7	100677921	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		100677921	58460742	8	14866											
EPHA1	2041	broad.mit.edu	37	7	143098437	143098437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr7:143098437G>A	uc003wcz.3	-	2	499	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	138						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AAGGGCCGTCGGAGCTGAATG	0.592													A	143098437	G	A	143098437	4	1	217	1	0	0	0	0	0	1	0	0	5165	1124	39	2	2582	2	EPHA1	7	143098437	Nonsense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	42420516	143098437	16040226	9	14867											
ATP6V1C1	528	broad.mit.edu	37	8	104075258	104075258	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr8:104075258C>G	uc003ykz.4	+	8	962	c.717C>G	c.(715-717)caC>caG	p.H239Q	ATP6V1C1_uc010mbz.3_Missense_Mutation_p.H164Q|ATP6V1C1_uc003yla.3_Missense_Mutation_p.H239Q|ATP6V1C1_uc011lhl.2_Missense_Mutation_p.H164Q	NM_001695	NP_001686	P21283	VATC1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.	239					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			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)			ACTTCAGACACAAAGCCAGAG	0.328													G	104075258	C	G	104075258	3	3	217	1	0	0	0	0	1	0	0	0	1180	477	17	5	747	5	ATP6V1C1	8	104075258	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		104075258	42288764	10	14868											
LRRC6	23639	broad.mit.edu	37	8	133645122	133645122	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr8:133645122C>T	uc003ytk.3	-	4	591	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	LRRC6_uc022bbp.1_Missense_Mutation_p.E173K|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	173						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGATCTTTTTCCTGCTCTCTG	0.398													T	133645122	C	T	133645122	3	4	217	1	0	0	0	0	1	0	0	0	9016	864	30	3	915	3	LRRC6	8	133645122	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	29569864	133645122	12718900	11	14869											
CDKN2B	1030	broad.mit.edu	37	9	22006044	22006044	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr9:22006044G>T	uc003zpo.3	-	1	719	c.359C>A	c.(358-360)gCc>gAc	p.A120D	MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.	120					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CCGCTCCTCGGCCAAGTCCAC	0.701													T	22006044	G	T	22006044	3	4	217	1	0	0	0	0	1	0	0	0	3164	1203	42	5	61	5	CDKN2B	9	22006044	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		22006044	119207387	12	14870			1	36		2	2	25	N	G_C	2.6359e-05
CDKN2B	1030	broad.mit.edu	37	9	22006068	22006068	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr9:22006068C>A	uc003zpo.3	-	1	695	c.335G>T	c.(334-336)tGg>tTg	p.W112L	MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.	112					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CAGACGACCCCAGGCATCGCG	0.726													A	22006068	C	A	22006068	3	1	217	1	0	0	0	0	1	0	0	0	3164	595	21	5	85	5	CDKN2B	9	22006068	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	24	22006068	119207363	13	14871			1	36		2	2	25	N	G_C	2.6359e-05
PTPRE	5791	broad.mit.edu	37	10	129861345	129861345	+	Splice_Site	SNP	A	A	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr10:129861345A>T	uc009yat.3	+	11	1076	c.659_splice	c.e11-2	p.G220_splice	PTPRE_uc001lkb.3_Splice_Site_p.G209_splice|PTPRE_uc010qup.1_Splice_Site|PTPRE_uc009yau.2_Splice_Site_p.G209_splice|PTPRE_uc001lkd.3_Splice_Site_p.G151_splice|PTPRE_uc010quq.1_Splice_Site_p.G110_splice	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	209	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTACACACAGGTCCCAAAC	0.522													T	129861345	A	T	129861345	5	4	217	1	0	0	0	0	0	0	1	0	12800	202	7	5	693	5	PTPRE	10	129861345	Splice_Site	SNP	A	TCGA-28-5218-01A-01D-1486-08		129861345	5673402	14	14872											
MEN1	4221	broad.mit.edu	37	11	64575521	64575521	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:64575521G>A	uc001obj.3	-	2	584	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	MEN1_uc001obk.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obl.3_Nonsense_Mutation_p.Q166*|MEN1_uc001obm.3_Nonsense_Mutation_p.Q166*|MEN1_uc001obn.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obo.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obq.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obr.3_Nonsense_Mutation_p.Q171*	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	171			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.R171Q(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCCAGGGCCTGGCAGGCCCCA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				A	64575521	G	A	64575521	4	1	217	1	0	0	0	0	0	1	0	0	9472	1357	47	3	1368	3	MEN1	11	64575521	Nonsense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		64575521	70430995	15	14873											
KRTAP5-11	440051	broad.mit.edu	37	11	71293418	71293418	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:71293418T>G	uc001oqu.3	-	0	504	c.466A>C	c.(466-468)Atc>Ctc	p.I156L		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	156						keratin filament		p.K155N(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGCCTCAGATCTTACACTGG	0.542													G	71293418	T	G	71293418	3	3	217	1	0	0	0	0	1	0	0	0	8560	1435	50	5	8	5	KRTAP5-11	11	71293418	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	6717897	71293418	63713098	16	14874											
INPPL1	3636	broad.mit.edu	37	11	71942586	71942586	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:71942586delC	uc001osf.3	+	12	1689	c.1542delC	c.(1540-1542)gtcfs	p.V514fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.V272fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	514					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGCTGGTCAAGCCAGAGC	0.567													-	71942586	C	-	71942586	7	5	217	1	0	1	0	1	0	0	0	0	7761	813	29	0	1592	0	INPPL1	11	71942586	Frame_Shift_Del	DEL	C	TCGA-28-5218-01A-01D-1486-08	649168	71942586	63063930	17	14875											
RAB30	27314	broad.mit.edu	37	11	82693315	82693315	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:82693315G>A	uc001ozu.3	-	5	765	c.504C>T	c.(502-504)tgC>tgT	p.C168C	RAB30_uc009yve.3_Silent_p.C166C|RAB30_uc010rst.2_Silent_p.C168C|RAB30_uc001ozv.3_3'UTR	NM_014488	NP_055303	Q15771	RAB30_HUMAN	Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.	168					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TGATGAGTCGGCATGCTAAGT	0.438													A	82693315	G	A	82693315	2	1	217	1	0	0	0	0	0	0	0	1	12919	1195	42	3		3	RAB30	11	82693315	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08	10750729	82693315	52313201	18	14876											
SESN3	143686	broad.mit.edu	37	11	94924753	94924756	+	Frame_Shift_Del	DEL	TTGC	TTGC	-			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:94924753_94924756delTTGC	uc001pfk.1	-	2	376_379	c.154_157delGCAA	c.(154-159)gcaaacfs	p.A52fs	SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.3_Frame_Shift_Del_p.A52fs	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	52					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCCACTGTGTTTGCTTGGACAACC	0.368													-	94924756	TTGC	-	94924753	7	5	217	1	0	1	0	1	0	0	0	0	14126	1841	64	0	1353	0	SESN3	11	94924753	Frame_Shift_Del	DEL	TTGC	TCGA-28-5218-01A-01D-1486-08	12231438	94924753	40081763	19	14877											
HELB	92797	broad.mit.edu	37	12	66698566	66698566	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr12:66698566G>A	uc001sti.2	+	1	271	c.243G>A	c.(241-243)ccG>ccA	p.P81P	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	81					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GACGTTTTCCGATAACAGGTG	0.378													A	66698566	G	A	66698566	2	1	217	1	0	0	0	0	0	0	0	1	7045	1045	37	2		2	HELB	12	66698566	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08		66698566	67153329	20	14878											
CABP1	9478	broad.mit.edu	37	12	121098105	121098105	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr12:121098105G>A	uc001tyu.3	+	2	859	c.792G>A	c.(790-792)atG>atA	p.M264I	CABP1_uc001tyv.3_Missense_Mutation_p.M121I|CABP1_uc001tyw.3_Missense_Mutation_p.M61I|CABP1_uc001tyx.3_Missense_Mutation_p.M106I	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA.	264	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACCGAGATGGAGCTCATCG	0.572													A	121098105	G	A	121098105	3	1	217	1	0	0	0	0	1	0	0	0	2531	1348	47	3	1035	3	CABP1	12	121098105	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	54399539	121098105	12753790	21	14879											
HERC2	8924	broad.mit.edu	37	15	28389261	28389261	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr15:28389261G>A	uc001zbj.3	-	72	11367	c.11261C>T	c.(11260-11262)gCg>gTg	p.A3754V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3754					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCGAGGCCGCAAGGCGAGG	0.537													A	28389261	G	A	28389261	3	1	217	1	0	0	0	0	1	0	0	0	7058	1087	38	1	3327	1	HERC2	15	28389261	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		28389261	74142131	22	14880											
MRPS34	65993	broad.mit.edu	37	16	1823074	1823075	+	Frame_Shift_Ins	INS	-	-	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr16:1823074_1823075insG	uc002cmo.3	-	0	66_67	c.46_47insC	c.(46-48)cgcfs	p.R16fs	NME3_uc002cmm.3_5'Flank|NME3_uc010brv.3_5'Flank|MRPS34_uc021taj.1_Frame_Shift_Ins_p.R16fs|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_023936	NP_076425	P82930	RT34_HUMAN	Homo sapiens mitochondrial ribosomal protein S34 (MRPS34), nuclear gene encoding mitochondrial protein, mRNA.	16						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						GCGCACGCGGCGGGCCAGCTCC	0.723													G	1823075	-	G	1823074	7	5	217	1	0	1	1	0	0	0	0	0	9843	768	27	0	621	0	MRPS34	16	1823074	Frame_Shift_Ins	INS	-	TCGA-28-5218-01A-01D-1486-08		1823074	88531679	23	14881											
RNF40	9810	broad.mit.edu	37	16	30774843	30774843	+	Silent	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr16:30774843G>A	uc002dzq.3	+	3	1225	c.405G>A	c.(403-405)ggG>ggA	p.G135G	C16orf93_uc002dzo.3_5'Flank|C16orf93_uc021tgp.1_5'Flank|C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Silent_p.G135G|RNF40_uc010cab.3_Silent_p.G135G|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Silent_p.G135G	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	135					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CATGTGATGGGACTCCTCTCC	0.612													A	30774843	G	A	30774843	2	1	217	1	0	0	0	0	0	0	0	1	13493	1161	41	3		3	RNF40	16	30774843	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08	28951769	30774843	59579910	24	14882											
KRTAP1-1	81851	broad.mit.edu	37	17	39197186	39197186	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr17:39197186C>T	uc002hvw.1	-	0	528	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	155						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GTAGGATGGGCGGCAGCAGGA	0.637													T	39197186	C	T	39197186	3	4	217	1	0	0	0	0	1	0	0	0	8502	768	27	1	73	1	KRTAP1-1	17	39197186	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		39197186	41998024	25	14883											
C19orf10	56005	broad.mit.edu	37	19	4668644	4668644	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:4668644C>T	uc002may.3	-	1	257	c.188G>A	c.(187-189)tGt>tAt	p.C63Y		NM_019107	NP_061980	Q969H8	CS010_HUMAN	Homo sapiens chromosome 19 open reading frame 10 (C19orf10), mRNA.	63						ER-Golgi intermediate compartment|extracellular region				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AGTGAACATACACGTATATTT	0.413													T	4668644	C	T	4668644	3	4	217	1	0	0	0	0	1	0	0	0	1908	478	17	3	353	3	C19orf10	19	4668644	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		4668644	54460339	26	14884											
ZNF317	57693	broad.mit.edu	37	19	9267420	9267420	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:9267420C>T	uc002mku.3	+	2	463	c.158C>T	c.(157-159)tCc>tTc	p.S53F	ZNF317_uc010xkm.2_Silent_p.F94F|ZNF317_uc002mkv.3_5'UTR|ZNF317_uc002mkw.3_Missense_Mutation_p.S53F|ZNF317_uc002mkx.3_5'UTR|ZNF317_uc002mky.3_5'UTR	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGTGTTGGTTCCCAGGTGCAC	0.527													T	9267420	C	T	9267420	3	4	217	1	0	0	0	0	1	0	0	0	17832	855	30	3	164	3	ZNF317	19	9267420	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	4598776	9267420	49861563	27	14885											
MAN2B1	4125	broad.mit.edu	37	19	12763065	12763065	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:12763065C>G	uc002mub.2	-	15	2024	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	MAN2B1_uc010dyv.1_Missense_Mutation_p.D649H	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	650					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTTTCGTTGTCACCTATACTG	0.597													G	12763065	C	G	12763065	3	3	217	1	0	0	0	0	1	0	0	0	9216	826	29	5	1123	5	MAN2B1	19	12763065	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	3495645	12763065	46365918	28	14886											
TMEM147	10430	broad.mit.edu	37	19	36037641	36037641	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:36037641C>T	uc002oaj.2	+	3	415	c.275C>T	c.(274-276)gCc>gTc	p.A92V	AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Missense_Mutation_p.A43V|TMEM147_uc021usr.1_Intron	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.	92						endoplasmic reticulum membrane|integral to membrane	protein binding	p.A92V(2)|p.A92A(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGAATGCCGGCAAGGGA	0.572													T	36037641	C	T	36037641	3	4	217	1	0	0	0	0	1	0	0	0	16058	739	26	3	289	3	TMEM147	19	36037641	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	23274576	36037641	23091342	29	14887											
EXOSC5	56915	broad.mit.edu	37	19	41895788	41895788	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:41895788G>A	uc002oqo.3	-	3	430	c.407C>T	c.(406-408)gCc>gTc	p.A136V	BCKDHA_uc002oqm.4_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	Homo sapiens exosome component 5 (EXOSC5), mRNA.	136					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CATGCAGGCGGCATTCAGACA	0.552													A	41895788	G	A	41895788	3	1	217	1	0	0	0	0	1	0	0	0	5318	1203	42	3	312	3	EXOSC5	19	41895788	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	5858147	41895788	17233195	30	14888											
NLRP5	126206	broad.mit.edu	37	19	56539217	56539217	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:56539217T>A	uc002qmj.3	+	6	1618	c.1618T>A	c.(1618-1620)Tgg>Agg	p.W540R	NLRP5_uc002qmi.3_Missense_Mutation_p.W521R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	540	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGGGAGTGTGGAATAGGAA	0.552													A	56539217	T	A	56539217	3	1	217	1	0	0	0	0	1	0	0	0	10480	1696	59	5	1644	5	NLRP5	19	56539217	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	14643429	56539217	2589766	31	14889											
SNRPB	6628	broad.mit.edu	37	20	2443779	2443779	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr20:2443779C>T	uc002wfz.1	-	4	678	c.515G>A	c.(514-516)cGt>cAt	p.R172H	SNRPB_uc002wga.1_Missense_Mutation_p.R172H|SNRPB_uc010zpv.2_Missense_Mutation_p.R93H|SNRPB_uc002wgb.3_Missense_Mutation_p.R172H|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	172				RG -> L (in Ref. 4).	histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGACCCCCACGGCCAGGTGG	0.597													T	2443779	C	T	2443779	3	4	217	1	0	0	0	0	1	0	0	0	14861	536	19	1	234	1	SNRPB	20	2443779	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		2443779	60581741	32	14890											
OTC	5009	broad.mit.edu	37	X	38260629	38260629	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chrX:38260629T>C	uc004def.4	+	4	702	c.488T>C	c.(487-489)cTg>cCg	p.L163P		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	163					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ATCAATGGGCTGTCAGATTTG	0.408													C	38260629	T	C	38260629	3	2	217	1	0	0	0	0	1	0	0	0	11301	1580	55	4	506	4	OTC	23	38260629	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08		38260629	117009931	33	14891											
HUWE1	10075	broad.mit.edu	37	X	53569470	53569470	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chrX:53569470G>A	uc004dsp.3	-	73	11812	c.11410C>T	c.(11410-11412)Cgg>Tgg	p.R3804W	HUWE1_uc004dsn.3_Missense_Mutation_p.R2612W|HUWE1_uc004dsq.1_Missense_Mutation_p.R104W	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3804					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTCCCTCCGGACAGACGCC	0.502													A	53569470	G	A	53569470	3	1	217	1	0	0	0	0	1	0	0	0	7461	1115	39	2	1758	2	HUWE1	23	53569470	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	15308841	53569470	101701090	34	14892											
GABRD	2563	broad.mit.edu	37	1	1957086	1957086	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:1957086G>A	uc001aip.2	+	3	474	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	127						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CACCTTCATCGTGAACGCCAA	0.637													A	1957086	G	A	1957086	3	1	218	1	0	0	0	0	1	0	0	0	6169	1145	40	1	393	1	GABRD	1	1957086	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		1957086	247293535	1	14893											
RERE	473	broad.mit.edu	37	1	8419978	8419978	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:8419978G>A	uc001ape.3	-	19	4274	c.3464C>T	c.(3463-3465)gCc>gTc	p.A1155V	RERE_uc001apf.3_Missense_Mutation_p.A1155V|RERE_uc001apd.3_Missense_Mutation_p.A601V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1155					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTGGACCCGGCCAGAGGCAT	0.597													A	8419978	G	A	8419978	3	1	218	1	0	0	0	0	1	0	0	0	13231	1203	42	3	1256	3	RERE	1	8419978	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	6462892	8419978	240830643	2	14894											
RERE	473	broad.mit.edu	37	1	8684379	8684379	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:8684379T>G	uc001ape.3	-	3	1196	c.386A>C	c.(385-387)gAc>gCc	p.D129A	RERE_uc001apf.3_Missense_Mutation_p.D129A|RERE_uc001aph.1_Missense_Mutation_p.D129A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	129	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D129V(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGTTTGAAGTCTTGAATGCT	0.383													G	8684379	T	G	8684379	3	3	218	1	0	0	0	0	1	0	0	0	13231	1667	58	5	4398	5	RERE	1	8684379	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08	264401	8684379	240566242	3	14895											
KPNA6	23633	broad.mit.edu	37	1	32622514	32622514	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:32622514C>A	uc010ogy.2	+	2	241	c.214C>A	c.(214-216)Ctc>Atc	p.L72I	KPNA6_uc001bug.3_Missense_Mutation_p.L67I|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.L64I	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	67					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGATAGTCTTCTCATGGACTC	0.468													A	32622514	C	A	32622514	3	1	218	1	0	0	0	0	1	0	0	0	8434	913	32	5	209	5	KPNA6	1	32622514	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	23938135	32622514	216628107	4	14896											
HPCA	3208	broad.mit.edu	37	1	33354728	33354728	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:33354728G>A	uc001bwh.3	+	1	269	c.229G>A	c.(229-231)Gat>Aat	p.D77N		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	77	EF-hand 2.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CACCAACAGCGATGGCACCAT	0.547													A	33354728	G	A	33354728	3	1	218	1	0	0	0	0	1	0	0	0	7329	1058	37	2	231	2	HPCA	1	33354728	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	732214	33354728	215895893	5	14897											
JAK1	3716	broad.mit.edu	37	1	65301859	65301860	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:65301859_65301860insAT	uc001dbu.1	-	22	3428_3429	c.3179_3180insAT	c.(3178-3180)attfs	p.I1060fs	JAK1_uc009wam.1_Frame_Shift_Ins_p.I1060fs|JAK1_uc009wal.1_Frame_Shift_Ins_p.I237fs	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	1060	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CGTCAGAGGCAATATAAAATTT	0.421			Mis		ALL								AT	65301860	-	AT	65301859	7	5	218	1	0	1	1	0	0	0	0	0	7937	126	5	0	296	0	JAK1	1	65301859	Frame_Shift_Ins	INS	-	TCGA-28-5219-01A-01D-1486-08	31947131	65301859	183948762	6	14898											
CDC73	79577	broad.mit.edu	37	1	193099308	193099309	+	Frame_Shift_Ins	INS	-	-	AAATATT			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:193099308_193099309insAAATATT	uc001gtb.3	+	2	485_486	c.242_243insAAATATT	c.(241-243)gaafs	p.E81fs		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	81					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTTTAGACTGAAAATATTCCTG	0.292													AAATATT	193099309	-	AAATATT	193099308	7	5	218	1	0	1	1	0	0	0	0	0	3085	246	9	0	252	0	CDC73	1	193099308	Frame_Shift_Ins	INS	-	TCGA-28-5219-01A-01D-1486-08	127797449	193099308	56151313	7	14899											
NAV1	89796	broad.mit.edu	37	1	201782286	201782286	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:201782286C>T	uc021phi.1	+	27	5587	c.5240C>T	c.(5239-5241)tCg>tTg	p.S1747L	NAV1_uc001gwu.3_Missense_Mutation_p.S1744L|NAV1_uc001gwx.3_Missense_Mutation_p.S1353L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1747					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCTTTCTGTCGTGTCCCATT	0.507													T	201782286	C	T	201782286	3	4	218	1	0	0	0	0	1	0	0	0	10183	893	31	2	5407	2	NAV1	1	201782286	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	8682978	201782286	47468335	8	14900											
RYR2	6262	broad.mit.edu	37	1	237936883	237936883	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:237936883C>T	uc001hyl.1	+	86	11830	c.11710C>T	c.(11710-11712)Cgg>Tgg	p.R3904W	RYR2_uc010pya.2_Missense_Mutation_p.R319W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3904					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			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)			ACAAGGACAACGGAATTTCTC	0.338													T	237936883	C	T	237936883	3	4	218	1	0	0	0	0	1	0	0	0	13769	527	19	1	12056	1	RYR2	1	237936883	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	36154597	237936883	11313738	9	14901											
RRM2	6241	broad.mit.edu	37	2	10264898	10264898	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:10264898T>C	uc021vdr.1	+	4	721	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_001034	NP_001159403	P31350	RIR2_HUMAN	Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.	164					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	p.R224H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTTCTATGGCTTCCAAATTGC	0.383													C	10264898	T	C	10264898	3	2	218	1	0	0	0	0	1	0	0	0	13682	1609	56	4	688	4	RRM2	2	10264898	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08		10264898	232934475	10	14902											
POLR1A	25885	broad.mit.edu	37	2	86272410	86272410	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:86272410T>C	uc002sqs.3	-	20	3339	c.2960A>G	c.(2959-2961)tAt>tGt	p.Y987C	POLR1A_uc010ytb.2_Missense_Mutation_p.Y353C|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	987					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTTTGGAGATAGCCTGAGCG	0.522													C	86272410	T	C	86272410	3	2	218	1	0	0	0	0	1	0	0	0	12209	1406	49	4	2258	4	POLR1A	2	86272410	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08	76007512	86272410	156926963	11	14903											
GLI2	2736	broad.mit.edu	37	2	121744096	121744096	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:121744096delG	uc010flp.3	+	11	2229	c.2199delG	c.(2197-2199)aagfs	p.K733fs	GLI2_uc002tmq.1_Frame_Shift_Del_p.K405fs|GLI2_uc002tmr.1_Frame_Shift_Del_p.K388fs|GLI2_uc002tmt.4_Frame_Shift_Del_p.K405fs|GLI2_uc002tmu.4_Frame_Shift_Del_p.K388fs|GLI2_uc002tmw.1_Frame_Shift_Del_p.K716fs	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	733					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCAGCTCAAGAAGGAGAAGC	0.647													-	121744096	G	-	121744096	7	5	218	1	0	1	0	1	0	0	0	0	6438	933	33	0	2245	0	GLI2	2	121744096	Frame_Shift_Del	DEL	G	TCGA-28-5219-01A-01D-1486-08	35471686	121744096	121455277	12	14904											
TTN	7273	broad.mit.edu	37	2	179438951	179438951	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:179438951G>A	uc021vsy.1	-	274	64429	c.64204C>T	c.(64204-64206)Cgg>Tgg	p.R21402W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15097W|TTN_uc021vta.1_Missense_Mutation_p.R15030W|TTN_uc021vtb.1_Missense_Mutation_p.R14905W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22329	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R21402C(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)			TTCAGCCACCGTCCATTAGGA	0.413													A	179438951	G	A	179438951	3	1	218	1	0	0	0	0	1	0	0	0	16732	1144	40	1	36219	1	TTN	2	179438951	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	57694855	179438951	63760422	13	14905											
TTN	7273	broad.mit.edu	37	2	179466465	179466465	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:179466465C>A	uc021vsy.1	-	234	47873	c.47648G>T	c.(47647-47649)cGa>cTa	p.R15883L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9578L|TTN_uc021vta.1_Missense_Mutation_p.R9511L|TTN_uc021vtb.1_Missense_Mutation_p.R9386L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16810	Fibronectin type-III 15.						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)			TGTATGAGATCGTTTACACTC	0.363													A	179466465	C	A	179466465	3	1	218	1	0	0	0	0	1	0	0	0	16732	884	31	5	52649	5	TTN	2	179466465	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	27514	179466465	63732908	14	14906											
DNAH7	56171	broad.mit.edu	37	2	196825609	196825609	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:196825609G>A	uc002utj.4	-	17	2367	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	756	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			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						ATTTTTTTACGTTGAGGATAT	0.368													A	196825609	G	A	196825609	3	1	218	1	0	0	0	0	1	0	0	0	4606	1145	40	1	10000	1	DNAH7	2	196825609	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	17359144	196825609	46373764	15	14907											
SUSD5	26032	broad.mit.edu	37	3	33194586	33194586	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:33194586G>A	uc003cfo.1	-	4	1956	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	513					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCATGATCGTTGAGGGGAT	0.522													A	33194586	G	A	33194586	3	1	218	1	0	0	0	0	1	0	0	0	15408	1145	40	1	355	1	SUSD5	3	33194586	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		33194586	164827844	16	14908											
STAB1	23166	broad.mit.edu	37	3	52551109	52551109	+	Silent	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:52551109C>T	uc003dej.3	+	41	4547	c.4473C>T	c.(4471-4473)gaC>gaT	p.D1491D	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1491	EGF-like 11.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATGGGCGACGGGGAGCTGT	0.622													T	52551109	C	T	52551109	2	4	218	1	0	0	0	0	0	0	0	1	15236	535	19	1		1	STAB1	3	52551109	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	19356523	52551109	145471321	17	14909											
TMEM14E	645843	broad.mit.edu	37	3	152058532	152058532	+	Silent	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:152058532A>G	uc010hvo.3	-	0	248	c.162T>C	c.(160-162)tcT>tcC	p.S54S	MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN	Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.	54						integral to membrane				lung(1)	1						GTGATGGCTGAGAAGCATCCA	0.453													G	152058532	A	G	152058532	2	3	218	1	0	0	0	0	0	0	0	1	16063	291	11	4		4	TMEM14E	3	152058532	Silent	SNP	A	TCGA-28-5219-01A-01D-1486-08	99507423	152058532	45963898	18	14910											
PDE6B	5158	broad.mit.edu	37	4	619881	619881	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:619881G>A	uc003gap.3	+	0	519	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PDE6B_uc003gao.4_Missense_Mutation_p.E156K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	156	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGACGTGGCCGAGGTGGGTCT	0.642													A	619881	G	A	619881	3	1	218	1	0	0	0	0	1	0	0	0	11646	1059	37	2	468	2	PDE6B	4	619881	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		619881	190534395	19	14911											
HS3ST1	9957	broad.mit.edu	37	4	11401266	11401266	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:11401266C>T	uc003gmq.3	-	1	687	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	HS3ST1_uc021xmg.1_Missense_Mutation_p.A122T	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	122						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.P121L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTGAAATACGCGGGGGTCTTC	0.612													T	11401266	C	T	11401266	3	4	218	1	0	0	0	0	1	0	0	0	7363	768	27	1	563	1	HS3ST1	4	11401266	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	10781385	11401266	179753010	20	14912											
UGT2A1	10941	broad.mit.edu	37	4	70455276	70455276	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:70455276C>T	uc011caq.2	-	6	2012	c.1896G>A	c.(1894-1896)atG>atA	p.M632I	UGT2A1_uc010ihu.3_Missense_Mutation_p.M466I|UGT2A1_uc003hem.4_Missense_Mutation_p.M466I|UGT2A1_uc010ihs.3_Missense_Mutation_p.M475I|UGT2A1_uc021xox.1_Missense_Mutation_p.M431I|UGT2A1_uc010iht.3_Missense_Mutation_p.M422I	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	466					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTTTGTGGCGCATGACAAACT	0.478													T	70455276	C	T	70455276	3	4	218	1	0	0	0	0	1	0	0	0	16950	710	25	3	189	3	UGT2A1	4	70455276	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	59054010	70455276	120699000	21	14913											
ODAM	54959	broad.mit.edu	37	4	71062419	71062419	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:71062419A>T	uc003hfc.3	+	1	79	c.62A>T	c.(61-63)cAg>cTg	p.Q21L		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	21					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CTTATCCCACAGCGTCTCATG	0.333													T	71062419	A	T	71062419	3	4	218	1	0	0	0	0	1	0	0	0	10824	188	7	5	68	5	ODAM	4	71062419	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	607143	71062419	120091857	22	14914											
MAST4	375449	broad.mit.edu	37	5	66084566	66084566	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:66084566G>A	uc021xzk.1	+	2	894	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	MAST4_uc010iwz.3_Missense_Mutation_p.V196M|MAST4_uc003jur.4_Missense_Mutation_p.V196M	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	196						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			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)		GTCCAACCTCGTGCGCATGCG	0.657													A	66084566	G	A	66084566	3	1	218	1	0	0	0	0	1	0	0	0	9327	1145	40	1	596	1	MAST4	5	66084566	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		66084566	114830694	23	14915											
PCDHAC2	56147	broad.mit.edu	37	5	140167892	140167892	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:140167892G>A	uc003lhb.2	+	0	2017	c.2017G>A	c.(2017-2019)Ggc>Agc	p.G673S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G673S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	682	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGAGCGGCCAGGCGCC	0.657													A	140167892	G	A	140167892	3	1	218	1	0	0	0	0	1	0	0	0	11533	1116	39	2		2	PCDHAC2	5	140167892	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	74083326	140167892	40747368	24	14916											
SLC44A4	80736	broad.mit.edu	37	6	31838592	31838592	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr6:31838592C>T	uc010jti.3	-	9	1000	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	SLC44A4_uc011dol.2_Missense_Mutation_p.A236T|SLC44A4_uc011dom.2_Missense_Mutation_p.A270T	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	312						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACTCACGGGCGGCCAGCCAG	0.692													T	31838592	C	T	31838592	3	4	218	1	0	0	0	0	1	0	0	0	14638	768	27	1	1246	1	SLC44A4	6	31838592	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		31838592	139276475	25	14917											
COL19A1	1310	broad.mit.edu	37	6	70637867	70637867	+	Silent	SNP	C	C	T	rs143252227	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr6:70637867C>T	uc003pfc.1	+	4	450	c.333C>T	c.(331-333)aaC>aaT	p.N111N	COL19A1_uc010kam.2_Silent_p.N7N	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	111	TSP N-terminal.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACGAAGAAACGCCAAAAAGG	0.428													T	70637867	C	T	70637867	2	4	218	1	0	0	0	0	0	0	0	1	3676	535	19	1		1	COL19A1	6	70637867	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	38799275	70637867	100477200	26	14918											
AHR	196	broad.mit.edu	37	7	17378648	17378648	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:17378648C>T	uc011jxz.1	+	9	1812	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	400					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAACGAAATACGAAGTTGCCT	0.333													T	17378648	C	T	17378648	3	4	218	1	0	0	0	0	1	0	0	0	416	536	19	1	1237	1	AHR	7	17378648	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		17378648	141760015	27	14919											
RABGEF1	27342	broad.mit.edu	37	7	66240279	66240279	+	Missense_Mutation	SNP	C	C	T	rs149995446	by1000genomes	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:66240279C>T	uc003tvf.3	+	5					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Missense_Mutation_p.T82I|RABGEF1_uc010lag.3_Missense_Mutation_p.T82I|RABGEF1_uc011kee.2_Missense_Mutation_p.T96I|RABGEF1_uc003tvi.3_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAATCCCTCACATTCTCCAAG	0.483													T	66240279	C	T	66240279	3	4	218	1	0	0	0	0	1	0	0	0	12966	478	17	3	251	3	RABGEF1	7	66240279	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	48861631	66240279	92898384	28	14920											
PCLO	27445	broad.mit.edu	37	7	82784650	82784650	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:82784650G>A	uc003uhx.2	-	1	1596	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	PCLO_uc003uhv.2_Missense_Mutation_p.P436L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	388	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				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						AGTCTTTGTAGGCCCAGGTGC	0.587													A	82784650	G	A	82784650	3	1	218	1	0	0	0	0	1	0	0	0	11583	1000	35	3	14234	3	PCLO	7	82784650	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	16544371	82784650	76354013	29	14921											
SEMA3D	223117	broad.mit.edu	37	7	84671590	84671590	+	Silent	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:84671590T>C	uc003uic.3	-	7	913	c.873A>G	c.(871-873)ggA>ggG	p.G291G	SEMA3D_uc010led.3_Silent_p.G291G|SEMA3D_uc003uib.3_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	291	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCGTTGTCCTCCTACATCAT	0.378													C	84671590	T	C	84671590	2	2	218	1	0	0	0	0	0	0	0	1	14027	1538	54	4		4	SEMA3D	7	84671590	Silent	SNP	T	TCGA-28-5219-01A-01D-1486-08	1886940	84671590	74467073	30	14922											
AKAP9	10142	broad.mit.edu	37	7	91708676	91708676	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:91708676delC	uc003ulg.3	+	30	7454	c.7229delC	c.(7228-7230)accfs	p.T2410fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.T2402fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.T2033fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.T180fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2422	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGAAATGACCTTCATGAAA	0.353			T	BRAF	papillary thyroid								-	91708676	C	-	91708676	7	5	218	1	0	1	0	1	0	0	0	0	459	507	18	0	7351	0	AKAP9	7	91708676	Frame_Shift_Del	DEL	C	TCGA-28-5219-01A-01D-1486-08	7037086	91708676	67429987	31	14923											
AP4M1	9179	broad.mit.edu	37	7	99702962	99702962	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:99702962A>T	uc003utb.4	+	9	1035	c.827A>T	c.(826-828)cAg>cTg	p.Q276L	AP4M1_uc011kjg.1_Missense_Mutation_p.Q230L|AP4M1_uc010lgl.1_Missense_Mutation_p.Q276L|AP4M1_uc003utd.3_Missense_Mutation_p.Q276L|AP4M1_uc011kjh.2_Missense_Mutation_p.Q228L|AP4M1_uc003ute.4_Missense_Mutation_p.Q51L|AP4M1_uc003utf.4_Missense_Mutation_p.Q148L	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	276	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAACCACCTCAGGGCGAGGTC	0.552													T	99702962	A	T	99702962	3	4	218	1	0	0	0	0	1	0	0	0	753	188	7	5	865	5	AP4M1	7	99702962	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	7994286	99702962	59435701	32	14924											
RELN	5649	broad.mit.edu	37	7	103293088	103293088	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:103293088A>G	uc022ajr.1	-	13	1833	c.1673T>C	c.(1672-1674)tTc>tCc	p.F558S	RELN_uc022ajq.1_Missense_Mutation_p.F558S|RELN_uc010liz.3_Missense_Mutation_p.F558S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	558					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.F558L(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)		CAAGACATGGAAAAAGTCTAC	0.448													G	103293088	A	G	103293088	3	3	218	1	0	0	0	0	1	0	0	0	13220	246	9	4	8917	4	RELN	7	103293088	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	3590126	103293088	55845575	33	14925											
REPIN1	29803	broad.mit.edu	37	7	150068992	150068992	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:150068992C>T	uc010lpr.1	+	2	1026	c.833C>T	c.(832-834)gCg>gTg	p.A278V	REPIN1_uc003whd.2_Missense_Mutation_p.A210V|REPIN1_uc010lpq.1_Missense_Mutation_p.A221V|REPIN1_uc003whc.2_Missense_Mutation_p.A221V|REPIN1_uc003whe.2_Missense_Mutation_p.A221V	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	221					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ggccgccccgcggtgaccgcc	0.711													T	150068992	C	T	150068992	3	4	218	1	0	0	0	0	1	0	0	0	13227	768	27	1	839	1	REPIN1	7	150068992	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	46775904	150068992	9069671	34	14926											
MLL3	58508	broad.mit.edu	37	7	151904459	151904459	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:151904459G>C	uc003wla.3	-	23	3986	c.3767C>G	c.(3766-3768)gCt>gGt	p.A1256G	MLL3_uc003wkz.3_Missense_Mutation_p.A317G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1256					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATCATCCACAGCTTCCCGCTC	0.393			N		medulloblastoma								C	151904459	G	C	151904459	3	2	218	1	0	0	0	0	1	0	0	0	9622	971	34	5	11112	5	MLL3	7	151904459	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	1835467	151904459	7234204	35	14927											
UBE3C	9690	broad.mit.edu	37	7	157000142	157000142	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:157000142T>C	uc010lqs.3	+	11	1781	c.1469T>C	c.(1468-1470)tTt>tCt	p.F490S	UBE3C_uc003wng.2_Missense_Mutation_p.F490S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	490					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.S489T(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)		CCTATGTCTTTTGAAGATTCT	0.358													C	157000142	T	C	157000142	3	2	218	1	0	0	0	0	1	0	0	0	16878	1841	64	4	1515	4	UBE3C	7	157000142	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08	5095683	157000142	2138521	36	14928											
SGK223	157285	broad.mit.edu	37	8	8234543	8234543	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr8:8234543C>T	uc003wsh.4	-	1	1376	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	459							ATP binding|non-membrane spanning protein tyrosine kinase activity										TGGGCTGTCCCGGCCCCAGCC	0.622													T	8234543	C	T	8234543	3	4	218	1	0	0	0	0	1	0	0	0	14210	652	23	2	2848	2	SGK223	8	8234543	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		8234543	138129479	37	14929											
CNTNAP3	79937	broad.mit.edu	37	9	39140559	39140559	+	Silent	SNP	T	T	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:39140559T>A	uc004abi.3	-	11	2072	c.1833A>T	c.(1831-1833)ggA>ggT	p.G611G	CNTNAP3_uc004abj.3_Silent_p.G611G|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.G611G|CNTNAP3_uc011lqs.1_Silent_p.G518G	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	611	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGGGCCACTTCCATCTGCAT	0.453													A	39140559	T	A	39140559	2	1	218	1	0	0	0	0	0	0	0	1	3648	1770	62	5		5	CNTNAP3	9	39140559	Silent	SNP	T	TCGA-28-5219-01A-01D-1486-08		39140559	102072872	38	14930											
ZNF618	114991	broad.mit.edu	37	9	116810979	116810979	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:116810979G>A	uc004bid.3	+	14	1496	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	ZNF618_uc004bic.3_Missense_Mutation_p.R373Q|ZNF618_uc011lxi.2_Missense_Mutation_p.R433Q|ZNF618_uc011lxj.2_Missense_Mutation_p.R434Q|ZNF618_uc010mvb.3_Missense_Mutation_p.R56Q	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GAAAAGGAGCGGCAGAACATC	0.552													A	116810979	G	A	116810979	3	1	218	1	0	0	0	0	1	0	0	0	18039	1116	39	2	1172	2	ZNF618	9	116810979	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	77670420	116810979	24402452	39	14931											
PNPLA7	375775	broad.mit.edu	37	9	140389550	140389550	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:140389550G>A	uc010ncj.1	-	18	2399	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.R663W	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	663					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTGAGTCCCGAACGGCATGC	0.687													A	140389550	G	A	140389550	3	1	218	1	0	0	0	0	1	0	0	0	12170	1057	37	2	2034	2	PNPLA7	9	140389550	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	23578571	140389550	823881	40	14932											
C10orf2	56652	broad.mit.edu	37	10	102748161	102748161	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr10:102748161G>A	uc001ksf.2	+	0	869	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.R65Q|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	65					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	p.R65Q(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGTATTTGCGGGGGCATGGG	0.572													A	102748161	G	A	102748161	3	1	218	1	0	0	0	0	1	0	0	0	1597	1116	39	2	196	2	C10orf2	10	102748161	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		102748161	32786586	41	14933											
OR5L2	26338	broad.mit.edu	37	11	55594981	55594981	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr11:55594981G>T	uc001nhy.1	+	0	287	c.287G>T	c.(286-288)gGg>gTg	p.G96V		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L95I(1)|p.L95V(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)				TCCTTCCTAGGGTGCATGGTG	0.473										HNSCC(27;0.073)			T	55594981	G	T	55594981	3	4	218	1	0	0	0	0	1	0	0	0	11171	1232	43	5	289	5	OR5L2	11	55594981	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		55594981	79411535	42	14934											
MED17	9440	broad.mit.edu	37	11	93543034	93543034	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr11:93543034C>A	uc001pem.4	+	10	2011	c.1736C>A	c.(1735-1737)gCt>gAt	p.A579D		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	579					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGTGACTATGCTATTTCAGGT	0.408													A	93543034	C	A	93543034	3	1	218	1	0	0	0	0	1	0	0	0	9435	797	28	5	1778	5	MED17	11	93543034	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	37948053	93543034	41463482	43	14935											
KRT18	3875	broad.mit.edu	37	12	53345364	53345364	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:53345364C>T	uc001sbe.3	+	4	826	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	KRT18_uc009zmn.2_Missense_Mutation_p.R253W|KRT18_uc001sbg.3_Missense_Mutation_p.R253W|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	253	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GGCAGACATCCGGGCCCAATA	0.582													T	53345364	C	T	53345364	3	4	218	1	0	0	0	0	1	0	0	0	8455	643	23	2	771	2	KRT18	12	53345364	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		53345364	80506531	44	14936											
C12orf12	196477	broad.mit.edu	37	12	91347528	91347528	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:91347528C>G	uc001tbj.3	-	0	1426	c.992G>C	c.(991-993)gGa>gCa	p.G331A		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	331	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						ctcctcctctccctcctccac	0.547													G	91347528	C	G	91347528	3	3	218	1	0	0	0	0	1	0	0	0	1676	855	30	5	232	5	C12orf12	12	91347528	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	38002164	91347528	42504367	45	14937											
FOXN4	121643	broad.mit.edu	37	12	109719317	109719317	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:109719317G>T	uc001toe.4	-	8	1294	c.1189C>A	c.(1189-1191)Cac>Aac	p.H397N	FOXN4_uc009zvg.3_Missense_Mutation_p.H194N|FOXN4_uc001tof.4_Missense_Mutation_p.H217N	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	397					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|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			large_intestine(5)|lung(9)|ovary(2)	16						ATGGCGGGGTGGGGGAGCGGG	0.647													T	109719317	G	T	109719317	3	4	218	1	0	0	0	0	1	0	0	0	6022	1348	47	5	372	5	FOXN4	12	109719317	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	18371789	109719317	24132578	46	14938											
HVCN1	84329	broad.mit.edu	37	12	111099035	111099035	+	Silent	SNP	G	G	A	rs138491014		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:111099035G>A	uc001trs.1	-	3	405	c.240C>T	c.(238-240)ccC>ccT	p.P80P	HVCN1_uc001trq.1_Silent_p.P80P|HVCN1_uc001trt.1_Silent_p.P80P|HVCN1_uc010syd.1_Silent_p.P60P	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	80					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCCTGGGTGCGGGGCCAGGGG	0.642													A	111099035	G	A	111099035	2	1	218	1	0	0	0	0	0	0	0	1	7462	1103	39	2		2	HVCN1	12	111099035	Silent	SNP	G	TCGA-28-5219-01A-01D-1486-08	1379718	111099035	22752860	47	14939											
KNTC1	9735	broad.mit.edu	37	12	123097664	123097664	+	Silent	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:123097664A>G	uc001ucv.3	+	53	5791	c.5628A>G	c.(5626-5628)ttA>ttG	p.L1876L	KNTC1_uc010taf.2_Silent_p.L801L	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1876					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCAGACATTAGGTATGCATC	0.373													G	123097664	A	G	123097664	2	3	218	1	0	0	0	0	0	0	0	1	8428	417	15	4		4	KNTC1	12	123097664	Silent	SNP	A	TCGA-28-5219-01A-01D-1486-08	11998629	123097664	10754231	48	14940											
GTF3C1	2975	broad.mit.edu	37	16	27499713	27499713	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr16:27499713C>G	uc002dov.2	-	22	3575	c.3535G>C	c.(3535-3537)Ggg>Cgg	p.G1179R	GTF3C1_uc002dou.3_Missense_Mutation_p.G1179R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1179						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTGCTTCCCCCCAAATATTC	0.552													G	27499713	C	G	27499713	3	3	218	1	0	0	0	0	1	0	0	0	6872	623	22	5	2854	5	GTF3C1	16	27499713	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		27499713	62855040	49	14941											
RPAIN	84268	broad.mit.edu	37	17	5329307	5329307	+	Missense_Mutation	SNP	C	C	A	rs142664022	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr17:5329307C>A	uc002gbp.1	+						RPAIN_uc010vsz.1_Missense_Mutation_p.S110R|RPAIN_uc010vta.1_Intron|RPAIN_uc002gbq.2_Missense_Mutation_p.S110R|RPAIN_uc010vtb.1_Missense_Mutation_p.S110R|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Missense_Mutation_p.S110R|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_Non-coding_Transcript|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank			Q86UA6	RIP_HUMAN	Homo sapiens RPA interacting protein (RPAIN), transcript variant 8, non-coding RNA.						DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CCATCATCAGCGAGTATGAGA	0.478													A	5329307	C	A	5329307	3	1	218	1	0	0	0	0	1	0	0	0	13540	767	27	5	344	5	RPAIN	17	5329307	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		5329307	75865903	50	14942											
TP53	7157	broad.mit.edu	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr17:7579699C>T	uc002gim.2	-	3	290	c.96_splice	c.e3+1	p.L32_splice	TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.3_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	32	Interaction with HRMT1L2.|Transcription activation (acidic).				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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CTTGTCCTTACCAGAACGTTG	0.597		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)			T	7579699	C	T	7579699	5	4	218	1	0	0	0	0	0	0	1	0	16378	521	18	3	1209	3	TP53	17	7579699	Splice_Site	SNP	C	TCGA-28-5219-01A-01D-1486-08	2250392	7579699	73615511	51	14943											
MBD3	53615	broad.mit.edu	37	19	1578435	1578435	+	Silent	SNP	C	C	T	rs150880184		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:1578435C>T	uc002ltj.3	-	5	802	c.780G>A	c.(778-780)gcG>gcA	p.A260A	AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Silent_p.A228A|MBD3_uc002ltl.1_Silent_p.A260A	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	260					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCAGCGGCGCCTCCCCGT	0.692													T	1578435	C	T	1578435	2	4	218	1	0	0	0	0	0	0	0	1	9344	755	27	1		1	MBD3	19	1578435	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08		1578435	57550548	52	14944											
NOTCH3	4854	broad.mit.edu	37	19	15280951	15280951	+	Silent	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:15280951C>T	uc002nan.3	-	27	5221	c.5145G>A	c.(5143-5145)ggG>ggA	p.G1715G		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1715					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			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)			TGGCCACCTCCCCCATCAGGC	0.627													T	15280951	C	T	15280951	2	4	218	1	0	0	0	0	0	0	0	1	10550	610	22	3		3	NOTCH3	19	15280951	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	13702516	15280951	43848032	53	14945											
FKBP8	23770	broad.mit.edu	37	19	18648452	18648452	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:18648452G>A	uc002njk.1	-	5	1014	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	FKBP8_uc010xqi.1_Missense_Mutation_p.H330Y|FKBP8_uc002njj.1_Missense_Mutation_p.H302Y|FKBP8_uc021uqp.1_Missense_Mutation_p.H142Y	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	301					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	p.H302Y(1)|p.E301D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TCTGGCTGGTGCTCCAGCACA	0.642													A	18648452	G	A	18648452	3	1	218	1	0	0	0	0	1	0	0	0	5914	1319	46	3	353	3	FKBP8	19	18648452	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	3367501	18648452	40480531	54	14946											
NFKBIB	4793	broad.mit.edu	37	19	39398200	39398200	+	Silent	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:39398200C>T	uc002ojw.3	+	4	973	c.870C>T	c.(868-870)gcC>gcT	p.A290A	NFKBIB_uc010egk.2_Silent_p.A204A|NFKBIB_uc002ojx.3_Silent_p.A258A|NFKBIB_uc002ojy.3_Silent_p.A290A	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	290					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCATCCTCGCCCGCCTCCTCC	0.706													T	39398200	C	T	39398200	2	4	218	1	0	0	0	0	0	0	0	1	10378	610	22	3		3	NFKBIB	19	39398200	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	20749748	39398200	19730783	55	14947											
AXL	558	broad.mit.edu	37	19	41744401	41744401	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:41744401A>G	uc010ehj.3	+	7	1211	c.1021A>G	c.(1021-1023)Agt>Ggt	p.S341G	AXL_uc010ehi.1_Missense_Mutation_p.S341G|AXL_uc010ehk.3_Missense_Mutation_p.S341G	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	341	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGAGAACATTAGTGCTACGCG	0.657													G	41744401	A	G	41744401	3	3	218	1	0	0	0	0	1	0	0	0	1238	420	15	4	1051	4	AXL	19	41744401	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	2346201	41744401	17384582	56	14948											
C20orf85	128602	broad.mit.edu	37	20	56728664	56728664	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr20:56728664A>T	uc002xyv.3	+	1	171	c.133A>T	c.(133-135)Aca>Tca	p.T45S		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.	45										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGGGTTTTTAACAACCCCTTT	0.433													T	56728664	A	T	56728664	3	4	218	1	0	0	0	0	1	0	0	0	2120	43	2	5	139	5	C20orf85	20	56728664	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08		56728664	6296856	57	14949											
TMPRSS15	5651	broad.mit.edu	37	21	19713765	19713765	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr21:19713765G>C	uc002ykw.3	-	12	1560	c.1529C>G	c.(1528-1530)cCa>cGa	p.P510R		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	510					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.E509*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACCAAAGTTGGTTCTGGATA	0.398													C	19713765	G	C	19713765	3	2	218	1	0	0	0	0	1	0	0	0	16243	1348	47	5	1582	5	TMPRSS15	21	19713765	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		19713765	28416130	58	14950											
RIPK4	54101	broad.mit.edu	37	21	43161460	43161460	+	Silent	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr21:43161460G>A	uc002yzn.1	-	7	1941	c.1893C>T	c.(1891-1893)aaC>aaT	p.N631N		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	631						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGCAGACGTTGACGTCGG	0.697													A	43161460	G	A	43161460	2	1	218	1	0	0	0	0	0	0	0	1	13383	1136	40	1		1	RIPK4	21	43161460	Silent	SNP	G	TCGA-28-5219-01A-01D-1486-08	23447695	43161460	4968435	59	14951											
PRAME	23532	broad.mit.edu	37	22	22892481	22892481	+	Missense_Mutation	SNP	C	C	T	rs116965324	by1000genomes	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr22:22892481C>T	uc002zwf.3	-	3	776	c.620G>A	c.(619-621)cGc>cAc	p.R207H	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.R191H|PRAME_uc010gtr.3_Missense_Mutation_p.R207H|PRAME_uc002zwg.3_Missense_Mutation_p.R207H|PRAME_uc002zwh.3_Missense_Mutation_p.R207H|PRAME_uc002zwi.3_Missense_Mutation_p.R207H|PRAME_uc002zwj.3_Missense_Mutation_p.R207H|PRAME_uc002zwk.3_Missense_Mutation_p.R207H	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	207					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.R207H(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACAGCACAGGCGTAGTACATT	0.443													T	22892481	C	T	22892481	3	4	218	1	0	0	0	0	1	0	0	0	12424	768	27	1	917	1	PRAME	22	22892481	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		22892481	28412085	60	14952											
DEPDC5	9681	broad.mit.edu	37	22	32239092	32239092	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr22:32239092C>T	uc011alu.2	+	27	2729	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	DEPDC5_uc011als.2_Nonsense_Mutation_p.R765*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R834*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R834*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R283*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R164*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R132*|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	834					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTTGTGTCCCGAAACCGCCC	0.433													T	32239092	C	T	32239092	4	4	218	1	0	0	0	0	0	1	0	0	4442	644	23	2	2624	2	DEPDC5	22	32239092	Nonsense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	9346611	32239092	19065474	61	14953											
ZCCHC13	389874	broad.mit.edu	37	X	73524398	73524398	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chrX:73524398T>A	uc004ebs.4	+	0	374	c.297T>A	c.(295-297)caT>caA	p.H99Q		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	99							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GACTAGGACATCTGGCTCGTG	0.512													A	73524398	T	A	73524398	3	1	218	1	0	0	0	0	1	0	0	0	17579	1432	50	5	299	5	ZCCHC13	23	73524398	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08		73524398	81746162	62	14954											
MAGEA12	4111	broad.mit.edu	37	X	151900252	151900252	+	Silent	SNP	G	G	A			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chrX:151900252G>A	uc022chj.1	-	0	549	c.549C>T	c.(547-549)ggC>ggT	p.G183G	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.G183G|MAGEA12_uc022chi.1_Silent_p.G183G|MAGEA12_uc004fgc.3_Silent_p.G183G|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	183	MAGE.							p.L182Q(1)|p.G183V(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGTAGGAGAGGCCCAGGCAGG	0.577													A	151900252	G	A	151900252	2	1	218	1	0	0	0	0	0	0	0	1	9166	1190	42	3		3	MAGEA12	23	151900252	Silent	SNP	G	TCGA-28-5219-01A-01D-1486-08	78375854	151900252	3370308	63	14955											
VPS13D	55187	broad.mit.edu	37	1	12371650	12371650	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:12371650C>T	uc001atv.3	+	27	6931	c.6790C>T	c.(6790-6792)Cgg>Tgg	p.R2264W	VPS13D_uc001atw.3_Missense_Mutation_p.R2264W|VPS13D_uc001atx.3_Missense_Mutation_p.R1452W|VPS13D_uc001aty.1_Missense_Mutation_p.R2W	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2264					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATTTATGCGGCCTTATGA	0.438													T	12371650	C	T	12371650	3	4	219	1	0	0	0	0	1	0	0	0	17189	759	27	1	6896	1	VPS13D	1	12371650	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		12371650	236878971	1	14956											
SLC2A1	6513	broad.mit.edu	37	1	43396818	43396818	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:43396818G>A	uc001cik.2	-	2	699	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	58					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGAGCGTGGTGGGCAGGATGC	0.602											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	43396818	G	A	43396818	2	1	219	1	0	0	0	0	0	0	0	1	14538	1335	47	3		3	SLC2A1	1	43396818	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	31025168	43396818	205853803	2	14957											
TGFBR3	7049	broad.mit.edu	37	1	92178062	92178062	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:92178062G>A	uc001doh.3	-	12	2419	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	TGFBR3_uc009wde.3_Intron|TGFBR3_uc010osy.2_Missense_Mutation_p.A593V|TGFBR3_uc001doi.3_Missense_Mutation_p.A634V|TGFBR3_uc001doj.3_Missense_Mutation_p.A634V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	635	ZP.		A -> T.		BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGTTTGGATGGCAAATCCCAG	0.368													A	92178062	G	A	92178062	3	1	219	1	0	0	0	0	1	0	0	0	15820	1203	42	3	671	3	TGFBR3	1	92178062	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	48781244	92178062	157072559	3	14958											
TGFBRAP1	9392	broad.mit.edu	37	2	105897164	105897164	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:105897164C>T	uc002tcq.3	-	5	1222	c.1138G>A	c.(1138-1140)Gtc>Atc	p.V380I	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.V150I|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.V380I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGCTCCCGGACATCAAGCTGG	0.532													T	105897164	C	T	105897164	3	4	219	1	0	0	0	0	1	0	0	0	15821	478	17	3	1472	3	TGFBRAP1	2	105897164	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		105897164	137302209	4	14959											
CNTNAP5	129684	broad.mit.edu	37	2	125367398	125367398	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:125367398G>A	uc010flu.3	+	11	2141	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E592K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	592	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAATCCTGCGAGGTGTACAG	0.517													A	125367398	G	A	125367398	3	1	219	1	0	0	0	0	1	0	0	0	3650	1059	37	2	1820	2	CNTNAP5	2	125367398	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	19470234	125367398	117831975	5	14960											
GALNT5	11227	broad.mit.edu	37	2	158114680	158114681	+	Frame_Shift_Ins	INS	-	-	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:158114680_158114681insC	uc002tzg.3	+	0	341_342	c.86_87insC	c.(85-87)gacfs	p.D29fs	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	29					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCCTCTTTGACATGGCAGCTC	0.495													C	158114681	-	C	158114680	7	5	219	1	0	1	1	0	0	0	0	0	6216	275	10	0	88	0	GALNT5	2	158114680	Frame_Shift_Ins	INS	-	TCGA-28-5220-01A-01D-1486-08	32747282	158114680	85084693	6	14961											
PDE11A	50940	broad.mit.edu	37	2	178936459	178936459	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:178936459C>G	uc002ulq.3	-	0	1024	c.706G>C	c.(706-708)Gac>Cac	p.D236H	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	236	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GAGCAGCGGTCAGCATCCACC	0.493									Primary Pigmented Nodular Adrenocortical Disease, Familial				G	178936459	C	G	178936459	3	3	219	1	0	0	0	0	1	0	0	0	11631	826	29	5	2175	5	PDE11A	2	178936459	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	20821779	178936459	64262914	7	14962											
SPHKAP	80309	broad.mit.edu	37	2	228882884	228882884	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:228882884C>T	uc002vpq.2	-	6	2733	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E896K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E896K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	896						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTTGAACTTCGTTGATGCGA	0.502													T	228882884	C	T	228882884	3	4	219	1	0	0	0	0	1	0	0	0	15047	893	31	2	2440	2	SPHKAP	2	228882884	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	49946425	228882884	14316489	8	14963											
CADPS	8618	broad.mit.edu	37	3	62636671	62636671	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr3:62636671C>T	uc003dll.2	-	4	1414	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	CADPS_uc003dlm.2_Missense_Mutation_p.A352T|CADPS_uc003dln.2_Missense_Mutation_p.A352T|CADPS_uc021wzv.1_Missense_Mutation_p.A352T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	352					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCCAAGTTGGCCATGAGCAGG	0.478													T	62636671	C	T	62636671	3	4	219	1	0	0	0	0	1	0	0	0	2570	739	26	3	3184	3	CADPS	3	62636671	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		62636671	135385759	9	14964											
HEATR7B2	133558	broad.mit.edu	37	5	41070948	41070948	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:41070948G>T	uc003jmj.4	-	0	497	c.7C>A	c.(7-9)Ctt>Att	p.L3I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.L3I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	3							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCTGTACTAAGTGTCATGTCT	0.398													T	41070948	G	T	41070948	3	4	219	1	0	0	0	0	1	0	0	0	7035	1029	36	5	4918	5	HEATR7B2	5	41070948	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		41070948	139844312	10	14965											
ENC1	8507	broad.mit.edu	37	5	73931652	73931652	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:73931652T>C	uc003kdc.4	-	1	1790	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	ENC1_uc011css.2_Missense_Mutation_p.Y147C|ENC1_uc021yao.1_Missense_Mutation_p.Y220C	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	220					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTTCAGGTCATAGCTGATCCA	0.512													C	73931652	T	C	73931652	3	2	219	1	0	0	0	0	1	0	0	0	5113	1406	49	4	1114	4	ENC1	5	73931652	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08	32860704	73931652	106983608	11	14966											
PDGFRB	5159	broad.mit.edu	37	5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:149503887G>A	uc003lro.3	-	13	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	650	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								A	149503887	G	A	149503887	3	1	219	1	0	0	0	0	1	0	0	0	11662	1059	37	2	1411	2	PDGFRB	5	149503887	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	75572235	149503887	31411373	12	14967											
SDK1	221935	broad.mit.edu	37	7	4011129	4011129	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:4011129C>A	uc003smx.3	+	11	1885	c.1746C>A	c.(1744-1746)gaC>gaA	p.D582E		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	582	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCCTGAGGACCACGTGGTGA	0.542													A	4011129	C	A	4011129	3	1	219	1	0	0	0	0	1	0	0	0	13968	506	18	5	1792	5	SDK1	7	4011129	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		4011129	155127534	13	14968											
FAM188B	358	broad.mit.edu	37	7	30961834	30961834	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:30961834C>T	uc003tbv.2	+	1	648	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	FAM188B_uc011kac.1_Missense_Mutation_p.H240Y|FAM188B_uc010kwf.1_Missense_Mutation_p.H97Y|FAM188B_uc010kwh.1_Missense_Mutation_p.H129Y|FAM188B_uc022abh.1_Missense_Mutation_p.H65Y	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCCTTGGACACCTCCTGGC	0.692													T	30961834	C	T	30961834	3	4	219	1	0	0	0	0	1	0	0	0	5515	478	17	3		3	FAM188B	7	30961834	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	26950705	30961834	128176829	14	14969											
PKD1L1	168507	broad.mit.edu	37	7	47840381	47840381	+	Missense_Mutation	SNP	G	G	A	rs141837186		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:47840381G>A	uc003tny.2	-	53	8093	c.8059C>T	c.(8059-8061)Ccc>Tcc	p.P2687S	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2687					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCAGCCCGGGGAAGGCGTCT	0.577													A	47840381	G	A	47840381	3	1	219	1	0	0	0	0	1	0	0	0	11964	1232	43	3	506	3	PKD1L1	7	47840381	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	16878547	47840381	111298282	15	14970											
AKAP9	10142	broad.mit.edu	37	7	91624020	91624020	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:91624020A>G	uc003ulg.3	+	5	887	c.662A>G	c.(661-663)aAg>aGg	p.K221R	AKAP9_uc003uld.4_Missense_Mutation_p.K221R|AKAP9_uc003ule.2_Missense_Mutation_p.K233R|AKAP9_uc003ulf.3_Missense_Mutation_p.K221R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	233	Gln-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGAGAAAAGGATGAGACA	0.318			T	BRAF	papillary thyroid								G	91624020	A	G	91624020	3	3	219	1	0	0	0	0	1	0	0	0	459	72	3	4	684	4	AKAP9	7	91624020	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08	43783639	91624020	67514643	16	14971											
RELN	5649	broad.mit.edu	37	7	103191670	103191670	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:103191670G>A	uc022ajr.1	-	40	6306	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	RELN_uc022ajq.1_Missense_Mutation_p.A2049V|RELN_uc010liz.3_Missense_Mutation_p.A2049V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2049					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.A2049V(2)		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)		GTGCCAGGTCGCCCCGAAGTC	0.547													A	103191670	G	A	103191670	3	1	219	1	0	0	0	0	1	0	0	0	13220	1087	38	1	4336	1	RELN	7	103191670	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	11567650	103191670	55946993	17	14972											
RNF32	140545	broad.mit.edu	37	7	156451221	156451221	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:156451221C>G	uc003wmo.3	+	6	871	c.641C>G	c.(640-642)cCt>cGt	p.P214R	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.P214R|RNF32_uc003wmq.3_Missense_Mutation_p.P214R|RNF32_uc003wmr.3_Missense_Mutation_p.P214R|RNF32_uc003wms.3_Missense_Mutation_p.P214R|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.P214R	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	214	IQ.					aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAAACAGTACCTCCCACAGAT	0.383													G	156451221	C	G	156451221	3	3	219	1	0	0	0	0	1	0	0	0	13488	681	24	5	663	5	RNF32	7	156451221	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	53259551	156451221	2687442	18	14973											
LYN	4067	broad.mit.edu	37	8	56863056	56863056	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:56863056A>G	uc003xsk.4	+	4	605	c.323A>G	c.(322-324)aAa>aGa	p.K108R	LYN_uc003xsl.4_Missense_Mutation_p.K87R	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	108	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CTTTTAACAAAAAAAGAAGGC	0.388													G	56863056	A	G	56863056	3	3	219	1	0	0	0	0	1	0	0	0	9107	14	1	4	337	4	LYN	8	56863056	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08		56863056	89500966	19	14974											
TRAM1	23471	broad.mit.edu	37	8	71510232	71510256	+	Splice_Site	DEL	TCGCCTGTTAATTTTCTAAAAATAA	TCGCCTGTTAATTTTCTAAAAATAA	-			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA	uc003xyo.2	-	4	570	c.310_splice	c.e4-1	p.K104_splice	TRAM1_uc011lfc.2_Splice_Site_p.K73_splice	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	104					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.R108*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AGAAGTGCATTCGCCTGTTAATTTTCTAAAAATAAAAACAGCCAT	0.307													-	71510256	TCGCCTGTTAATTTTCTAAAAATAA	-	71510232	8	5	219	1	0	1	0	1	0	0	1	0	16448	1770	62	0	832	0	TRAM1	8	71510232	Splice_Site	DEL	TCGCCTGTTAATTTTCTAAAAATAA	TCGA-28-5220-01A-01D-1486-08	14647176	71510232	74853790	20	14975											
COL14A1	7373	broad.mit.edu	37	8	121219270	121219270	+	Silent	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:121219270C>T	uc003yox.3	+	9	1393	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	COL14A1_uc003yoy.3_Silent_p.A54A|COL14A1_uc010mde.1_Silent_p.A54A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	376	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			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)			GGACTCATGCCCCAGGAAATG	0.428													T	121219270	C	T	121219270	2	4	219	1	0	0	0	0	0	0	0	1	3671	610	22	3		3	COL14A1	8	121219270	Silent	SNP	C	TCGA-28-5220-01A-01D-1486-08	49709038	121219270	25144752	21	14976											
FOXB2	442425	broad.mit.edu	37	9	79635212	79635212	+	Silent	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr9:79635212C>T	uc004ako.1	+	0	642	c.642C>T	c.(640-642)ccC>ccT	p.P214P		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	214					brain development|embryo development|pattern specification process|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			breast(1)|lung(8)|ovary(1)	10						CGTCTCACCCCGGCAAGATGC	0.751													T	79635212	C	T	79635212	2	4	219	1	0	0	0	0	0	0	0	1	5993	639	23	2		2	FOXB2	9	79635212	Silent	SNP	C	TCGA-28-5220-01A-01D-1486-08		79635212	61578219	22	14977											
OR13C4	138804	broad.mit.edu	37	9	107289309	107289309	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr9:107289309A>G	uc011lvn.2	-	0	182	c.182T>C	c.(181-183)tTc>tCc	p.F61S		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCCCAGGAAGAAGTACATGGG	0.418													G	107289309	A	G	107289309	3	3	219	1	0	0	0	0	1	0	0	0	10936	246	9	4	776	4	OR13C4	9	107289309	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08	27654097	107289309	33924122	23	14978											
PTCHD3	374308	broad.mit.edu	37	10	27702773	27702773	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr10:27702773G>A	uc001itu.2	-	0	525	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	136					spermatid development	integral to membrane	hedgehog receptor activity	p.G135G(1)|p.A136A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCAGGGGTGCGCGCCCACCTG	0.667													A	27702773	G	A	27702773	3	1	219	1	0	0	0	0	1	0	0	0	12734	1087	38	1	1912	1	PTCHD3	10	27702773	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		27702773	107831974	24	14979											
OR51M1	390059	broad.mit.edu	37	11	5410816	5410816	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:5410816C>A	uc010qzc.2	+	0	210	c.188C>A	c.(187-189)aCc>aAc	p.T63N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	63						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTATTAAGACCAACCCTCGT	0.478													A	5410816	C	A	5410816	3	1	219	1	0	0	0	0	1	0	0	0	11103	507	18	5	190	5	OR51M1	11	5410816	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		5410816	129595700	25	14980											
CTNND1	1500	broad.mit.edu	37	11	57559037	57559037	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:57559037G>A	uc001nmc.4	+	2	658	c.87G>A	c.(85-87)gcG>gcA	p.A29A	CTNND1_uc001nlf.2_Silent_p.A29A|CTNND1_uc021qjk.1_Silent_p.A29A|CTNND1_uc001nlh.1_Silent_p.A29A|CTNND1_uc001nlj.4_5'UTR|CTNND1_uc001nlq.4_Intron|CTNND1_uc001nlr.4_5'UTR|CTNND1_uc001nln.4_Silent_p.A29A|CTNND1_uc001nli.4_Silent_p.A29A|CTNND1_uc001nlo.4_Intron|CTNND1_uc001nlp.4_5'UTR|CTNND1_uc001nlu.4_Intron|CTNND1_uc001nlt.4_Intron|CTNND1_uc001nlv.4_Intron|CTNND1_uc001nls.4_Intron|CTNND1_uc001nlw.4_Intron|CTNND1_uc001nmf.4_Silent_p.A29A|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_5'UTR|CTNND1_uc001nlk.4_5'UTR|CTNND1_uc001nme.4_Silent_p.A29A|CTNND1_uc001nll.4_5'UTR|CTNND1_uc001nlm.4_Silent_p.A29A|CTNND1_uc001nmi.4_Intron|CTNND1_uc001nmg.4_5'UTR|CTNND1_uc001nmh.4_Silent_p.A29A	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	29					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGACCCGGGCGCTGGAGGAGG	0.637													A	57559037	G	A	57559037	2	1	219	1	0	0	0	0	0	0	0	1	4019	1074	38	1		1	CTNND1	11	57559037	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	52148221	57559037	77447479	26	14981											
ACER3	55331	broad.mit.edu	37	11	76701596	76701596	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:76701596T>C	uc009yum.1	+	5	520	c.416T>C	c.(415-417)gTa>gCa	p.V139A	ACER3_uc010rsg.1_Missense_Mutation_p.V97A|ACER3_uc009yul.1_Non-coding_Transcript|ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yun.1_Missense_Mutation_p.V97A|ACER3_uc009yuo.1_Missense_Mutation_p.V44A|ACER3_uc010rsh.1_Missense_Mutation_p.V102A|ACER3_uc010rsi.1_Missense_Mutation_p.V44A|ACER3_uc010rsj.1_Missense_Mutation_p.V44A	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	Homo sapiens alkaline ceramidase 3 (ACER3), mRNA.	139					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TACCTTAAGGTAAAAGAGCCG	0.338													C	76701596	T	C	76701596	3	2	219	1	0	0	0	0	1	0	0	0	140	1638	57	4	438	4	ACER3	11	76701596	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08	19142559	76701596	58304920	27	14982											
NNMT	4837	broad.mit.edu	37	11	114182998	114182998	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:114182998G>A	uc001por.1	+	4	858	c.594G>A	c.(592-594)gcG>gcA	p.A198A	NNMT_uc001pos.1_Silent_p.A198A	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	198					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCATGGATGCGCTCAAGAGCA	0.612													A	114182998	G	A	114182998	2	1	219	1	0	0	0	0	0	0	0	1	10509	1074	38	1		1	NNMT	11	114182998	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	37481402	114182998	20823518	28	14983											
OR6X1	390260	broad.mit.edu	37	11	123624636	123624636	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:123624636G>A	uc010rzy.2	-	0	591	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TTGCTATGACGCCCAGGAGTT	0.448													A	123624636	G	A	123624636	2	1	219	1	0	0	0	0	0	0	0	1	11212	1074	38	1		1	OR6X1	11	123624636	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	9441638	123624636	11381880	29	14984											
NDUFA12	55967	broad.mit.edu	37	12	95365322	95365322	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr12:95365322G>A	uc001tdl.3	-	3	387	c.332C>T	c.(331-333)aCg>aTg	p.T111M		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), nuclear gene encoding mitochondrial protein, mRNA.	111					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	TTTATGGTTCGTCCAAATGAA	0.423													A	95365322	G	A	95365322	3	1	219	1	0	0	0	0	1	0	0	0	10262	1145	40	1	109	1	NDUFA12	12	95365322	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		95365322	38486573	30	14985											
RBM19	9904	broad.mit.edu	37	12	114282577	114282577	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr12:114282577A>G	uc009zwi.2	-	22	2825	c.2681T>C	c.(2680-2682)cTg>cCg	p.L894P	RBM19_uc001tvn.4_Missense_Mutation_p.L894P|RBM19_uc001tvm.3_Missense_Mutation_p.L894P	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	894	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			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)					GCTGTGACACAGGGCGTTGAA	0.637													G	114282577	A	G	114282577	3	3	219	1	0	0	0	0	1	0	0	0	13121	188	7	4	209	4	RBM19	12	114282577	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08	18917255	114282577	19569318	31	14986											
RABGGTA	5875	broad.mit.edu	37	14	24739285	24739285	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr14:24739285G>A	uc001wof.3	-	3	723	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	RABGGTA_uc001wog.3_Missense_Mutation_p.R101W|HP08474_uc021rro.1_5'Flank	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	101					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGGTTCACCCGCAGGCAGCTC	0.632													A	24739285	G	A	24739285	3	1	219	1	0	0	0	0	1	0	0	0	12967	1086	38	1	1454	1	RABGGTA	14	24739285	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		24739285	82610255	32	14987											
KRT20	54474	broad.mit.edu	37	17	39041346	39041346	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:39041346G>A	uc002hvl.3	-	0	150	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	31	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCTGGGTGTCGTCCCGAGGCG	0.607													A	39041346	G	A	39041346	3	1	219	1	0	0	0	0	1	0	0	0	8458	1145	40	1	1214	1	KRT20	17	39041346	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		39041346	42153864	33	14988											
TBKBP1	9755	broad.mit.edu	37	17	45776024	45776024	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:45776024C>G	uc002ilu.3	+	3	1366	c.517C>G	c.(517-519)Caa>Gaa	p.Q173E		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	Homo sapiens TBK1 binding protein 1 (TBKBP1), mRNA.	173					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCGGCAACAGCAAGGCCTCCA	0.647											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	45776024	C	G	45776024	3	3	219	1	0	0	0	0	1	0	0	0	15635	711	25	5	531	5	TBKBP1	17	45776024	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	6734678	45776024	35419186	34	14989											
EXOC7	23265	broad.mit.edu	37	17	74084564	74084564	+	Missense_Mutation	SNP	T	T	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:74084564T>G	uc002jqs.3	-	10	1528	c.1433A>C	c.(1432-1434)gAc>gCc	p.D478A	EXOC7_uc010dgv.2_Missense_Mutation_p.D374A|EXOC7_uc010wsv.2_Missense_Mutation_p.D386A|EXOC7_uc010wsw.2_Missense_Mutation_p.D450A|EXOC7_uc002jqq.3_Missense_Mutation_p.D427A|EXOC7_uc010wsx.2_Missense_Mutation_p.D419A|EXOC7_uc002jqr.3_Missense_Mutation_p.D396A	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	478					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTCTGCGAAGTCCTCCAGCGC	0.632													G	74084564	T	G	74084564	3	3	219	1	0	0	0	0	1	0	0	0	5310	1667	58	5	814	5	EXOC7	17	74084564	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08	28308540	74084564	7110646	35	14990											
ZNF407	55628	broad.mit.edu	37	18	72775660	72775660	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr18:72775660G>A	uc002llw.2	+	7	6036	c.5983G>A	c.(5983-5985)Gcg>Acg	p.A1995T		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		ATTGCTCTGTGCGGTCACTGA	0.627													A	72775660	G	A	72775660	3	1	219	1	0	0	0	0	1	0	0	0	17884	1319	46	3	6143	3	ZNF407	18	72775660	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		72775660	5301588	36	14991											
FBN3	84467	broad.mit.edu	37	19	8176555	8176555	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:8176555G>A	uc002mjf.3	-	30	4078	c.4061C>T	c.(4060-4062)gCc>gTc	p.A1354V		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1354	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCATCCCCGGCAAAGCCCTG	0.637													A	8176555	G	A	8176555	3	1	219	1	0	0	0	0	1	0	0	0	5704	1203	42	3	4500	3	FBN3	19	8176555	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		8176555	50952428	37	14992											
ZNF101	94039	broad.mit.edu	37	19	19790246	19790247	+	Frame_Shift_Ins	INS	-	-	C			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:19790246_19790247insC	uc002nni.2	+	3	558_559	c.448_449insC	c.(448-450)tccfs	p.S150fs	ZNF101_uc010ecg.2_Frame_Shift_Ins_p.S30fs|ZNF101_uc002nnj.2_Frame_Shift_Ins_p.S30fs	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TGGGAAAGCCTCCATTTCCCCC	0.51													C	19790247	-	C	19790246	7	5	219	1	0	1	1	0	0	0	0	0	17711	1551	54	0	462	0	ZNF101	19	19790246	Frame_Shift_Ins	INS	-	TCGA-28-5220-01A-01D-1486-08	11613691	19790246	39338737	38	14993											
CCDC155	147872	broad.mit.edu	37	19	49910497	49910497	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:49910497C>T	uc002pnm.2	+	11	1082	c.877_splice	c.e11-1	p.R293_splice	CCDC155_uc010emx.2_Splice_Site_p.R266_splice	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	293						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TTCTTGGCAGCGGCAGCTCTT	0.592													T	49910497	C	T	49910497	3	4	219	1	0	0	0	0	1	0	0	0	2788	782	27	1	915	1	CCDC155	19	49910497	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	30120251	49910497	9218486	39	14994											
TBC1D17	79735	broad.mit.edu	37	19	50387771	50387771	+	Silent	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:50387771C>T	uc002pqo.3	+	11	1598	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	TBC1D17_uc010ybg.2_Silent_p.N400N|TBC1D17_uc002pqp.3_Silent_p.N84N|TBC1D17_uc002pqr.3_Silent_p.N84N	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	433	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATTCAGAACGAGGTGGATG	0.607													T	50387771	C	T	50387771	2	4	219	1	0	0	0	0	0	0	0	1	15603	535	19	1		1	TBC1D17	19	50387771	Silent	SNP	C	TCGA-28-5220-01A-01D-1486-08	477274	50387771	8741212	40	14995											
TGM2	7052	broad.mit.edu	37	20	36789862	36789862	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr20:36789862G>A	uc002xhr.3	-	1	250	c.150C>T	c.(148-150)taC>taT	p.Y50Y	TGM2_uc010zvx.2_Silent_p.Y50Y|TGM2_uc010zvy.2_Intron|TGM2_uc002xhs.1_Silent_p.Y50Y|TGM2_uc002xht.3_Silent_p.Y50Y|TGM2_uc002xhu.3_Silent_p.Y50Y	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	50					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGGCCTCGTAGTTGCGGC	0.642													A	36789862	G	A	36789862	2	1	219	1	0	0	0	0	0	0	0	1	15827	1140	40	1		1	TGM2	20	36789862	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08		36789862	26235658	41	14996											
PFDN4	5203	broad.mit.edu	37	20	52830966	52830966	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr20:52830966C>T	uc002xwx.3	+	1	239	c.101C>T	c.(100-102)aCa>aTa	p.T34I		NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	Homo sapiens prefoldin subunit 4 (PFDN4), mRNA.	34					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			AGTAGAATCACAGAGCTGAAG	0.284													T	52830966	C	T	52830966	3	4	219	1	0	0	0	0	1	0	0	0	11757	478	17	3	107	3	PFDN4	20	52830966	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	16041104	52830966	10194554	42	14997											
TRPM2	7226	broad.mit.edu	37	21	45786659	45786659	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr21:45786659C>G	uc010gpt.1	+	3	546	c.446C>G	c.(445-447)aCg>aGg	p.T149R	TRPM2_uc002zet.1_Missense_Mutation_p.T149R|TRPM2_uc002zeu.1_Missense_Mutation_p.T149R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.T149R|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	149						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCCAGGACACGCCCTCCAGC	0.617													G	45786659	C	G	45786659	3	3	219	1	0	0	0	0	1	0	0	0	16583	536	19	5	460	5	TRPM2	21	45786659	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		45786659	2343236	43	14998											
PICK1	9463	broad.mit.edu	37	22	38471061	38471061	+	Silent	SNP	G	G	A			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr22:38471061G>A	uc003auq.3	+	12	1560	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	PICK1_uc003aur.3_Silent_p.T390T|PICK1_uc003aus.3_Silent_p.T390T|PICK1_uc003aut.3_Silent_p.T390T	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					aggaagaCACGGCAGCTGGGG	0.642													A	38471061	G	A	38471061	2	1	219	1	0	0	0	0	0	0	0	1	11881	1103	39	2		2	PICK1	22	38471061	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08		38471061	12833505	44	14999											
RIBC2	26150	broad.mit.edu	37	22	45813805	45813805	+	Missense_Mutation	SNP	C	C	T	rs137932273		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr22:45813805C>T	uc011aqs.2	+	3	726	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	106										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAAGAACGCCCGTGCTGAACA	0.418													T	45813805	C	T	45813805	3	4	219	1	0	0	0	0	1	0	0	0	13353	652	23	2	529	2	RIBC2	22	45813805	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	7342744	45813805	5490761	45	15000											
SMC1A	8243	broad.mit.edu	37	X	53432322	53432322	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chrX:53432322G>T	uc004dsg.3	-	12	1981	c.1912_splice	c.e12-1	p.T638_splice	SMC1A_uc011moe.2_Splice_Site_p.T616_splice|SMC1A_uc011mof.2_Splice_Site_p.T404_splice	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	638	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGTGCCACTGTCTACACACA	0.562													T	53432322	G	T	53432322	3	4	219	1	0	0	0	0	1	0	0	0	14781	1391	48	5	1844	5	SMC1A	23	53432322	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		53432322	101838238	46	15001											
SATL1	340562	broad.mit.edu	37	X	84347411	84347411	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chrX:84347411C>G	uc004een.3	-	4					APOOL_uc004eem.3_3'UTR|APOOL_uc010nmp.3_Non-coding_Transcript	NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.								N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TCTTCCCATGCCATGTCCAGG	0.458													G	84347411	C	G	84347411	3	3	219	1	0	0	0	0	1	0	0	0	13855	754	26	5		5	SATL1	23	84347411	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	30915089	84347411	70923149	47	15002											
DNAJC11	55735	broad.mit.edu	37	1	6705885	6705885	+	Silent	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:6705885T>C	uc001aof.2	-	7	964	c.858A>G	c.(856-858)cgA>cgG	p.R286R	DNAJC11_uc001aog.2_Silent_p.R286R|DNAJC11_uc010nzu.1_Silent_p.R196R	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	286					protein folding		heat shock protein binding|unfolded protein binding			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)		TTTTAGTGTCTCGGACGATGC	0.587													C	6705885	T	C	6705885	2	2	220	1	0	0	0	0	0	0	0	1	4630	1538	54	4		4	DNAJC11	1	6705885	Silent	SNP	T	TCGA-28-6450-01A-11D-1696-08		6705885	242544736	1	15003											
NPPA	4878	broad.mit.edu	37	1	11907662	11907662	+	Missense_Mutation	SNP	G	G	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:11907662G>C	uc001ati.3	-	0	179	c.80C>G	c.(79-81)cCc>cGc	p.P27R	CLCN6_uc010oba.1_Non-coding_Transcript|CLCN6_uc010oav.1_Non-coding_Transcript|CLCN6_uc010oay.1_Non-coding_Transcript|CLCN6_uc010oax.1_Non-coding_Transcript|CLCN6_uc010oaw.1_Non-coding_Transcript|CLCN6_uc010oaz.1_Non-coding_Transcript	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	27					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTACATGGGATTAGCTCT	0.567													C	11907662	G	C	11907662	3	2	220	1	0	0	0	0	1	0	0	0	10591	1232	43	5	387	5	NPPA	1	11907662	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	5201777	11907662	237342959	2	15004											
NPPA	4878	broad.mit.edu	37	1	11907712	11907712	+	Missense_Mutation	SNP	G	G	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:11907712G>C	uc001ati.3	-	0	129	c.30C>G	c.(28-30)agC>agG	p.S10R		NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	10					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGAGGAAGCTCACGGTGG	0.557													C	11907712	G	C	11907712	3	2	220	1	0	0	0	0	1	0	0	0	10591	962	34	5	437	5	NPPA	1	11907712	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	50	11907712	237342909	3	15005											
ADC	113451	broad.mit.edu	37	1	33583641	33583641	+	Missense_Mutation	SNP	T	T	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:33583641T>A	uc009vug.3	+	7	1300	c.1228T>A	c.(1228-1230)Tac>Aac	p.Y410N	ADC_uc001bwr.3_Missense_Mutation_p.Y390N|ADC_uc001bws.3_Missense_Mutation_p.Y390N|ADC_uc009vue.3_Missense_Mutation_p.Y390N|ADC_uc001bwt.1_Missense_Mutation_p.Y295N|ADC_uc001bwu.3_Missense_Mutation_p.Y295N|ADC_uc001bwv.3_Missense_Mutation_p.Y295N|ADC_uc001bwx.1_Missense_Mutation_p.Y367N	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	390					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CATGGGCGCCTACACTGTGGG	0.632													A	33583641	T	A	33583641	3	1	220	1	0	0	0	0	1	0	0	0	287	1522	53	5	1198	5	ADC	1	33583641	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	21675929	33583641	215666980	4	15006											
FLG	2312	broad.mit.edu	37	1	152285965	152285965	+	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:152285965C>A	uc001ezu.1	-	2	1433	c.1397G>T	c.(1396-1398)gGg>gTg	p.G466V	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	466	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GAGGGAAGACCCTGAACGTCC	0.607									Ichthyosis				A	152285965	C	A	152285965	3	1	220	1	0	0	0	0	1	0	0	0	5922	623	22	5	10792	5	FLG	1	152285965	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	118702324	152285965	96964656	5	15007											
AQP10	89872	broad.mit.edu	37	1	154293715	154293715	+	Silent	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:154293715T>C	uc001feu.3	+	0	124	c.84T>C	c.(82-84)ttT>ttC	p.F28F		NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	28					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCAGAGTTTCTGGGTGTGT	0.552													C	154293715	T	C	154293715	2	2	220	1	0	0	0	0	0	0	0	1	822	1780	62	4		4	AQP10	1	154293715	Silent	SNP	T	TCGA-28-6450-01A-11D-1696-08	2007750	154293715	94956906	6	15008											
EFNA3	1944	broad.mit.edu	37	1	155058900	155058900	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:155058900G>A	uc001fhf.3	+	4	668	c.598G>A	c.(598-600)Gga>Aga	p.G200R	EFNA3_uc010pew.2_Missense_Mutation_p.G195R|EFNA3_uc010pex.2_Missense_Mutation_p.G174R	NM_004952	NP_004943	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A3 (EFNA3), mRNA.	200					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGACTTTGAGGGAGAGAACCC	0.632											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	155058900	G	A	155058900	3	1	220	1	0	0	0	0	1	0	0	0	4952	1233	43	3	616	3	EFNA3	1	155058900	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	765185	155058900	94191721	7	15009											
AIM2	9447	broad.mit.edu	37	1	159043117	159043117	+	Missense_Mutation	SNP	G	G	A	rs149324922		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:159043117G>A	uc001ftj.1	-	1	418	c.173C>T	c.(172-174)gCg>gTg	p.A58V		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	58	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TGCAGACACCGCCCCAGCATT	0.393													A	159043117	G	A	159043117	3	1	220	1	0	0	0	0	1	0	0	0	432	1087	38	1	878	1	AIM2	1	159043117	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	3984217	159043117	90207504	8	15010											
TLR5	7100	broad.mit.edu	37	1	223285929	223285929	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:223285929G>A	uc021pjl.1	-	0	445	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	TLR5_uc001hnv.2_Missense_Mutation_p.R149C|TLR5_uc001hnw.2_Missense_Mutation_p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	149					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGATCCAAGCGAGTTAAAGCC	0.368													A	223285929	G	A	223285929	3	1	220	1	0	0	0	0	1	0	0	0	15951	1058	37	2	2135	2	TLR5	1	223285929	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	64242812	223285929	25964692	9	15011											
DHX57	90957	broad.mit.edu	37	2	39088222	39088222	+	Frame_Shift_Del	DEL	A	A	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:39088222delA	uc002rrf.3	-	4	1429	c.1330delT	c.(1330-1332)tctfs	p.S444fs	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Frame_Shift_Del_p.S444fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	444							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTGGTCCTAGAGGGTACTGGC	0.378													-	39088222	A	-	39088222	7	5	220	1	0	1	0	1	0	0	0	0	4513	304	11	0	2910	0	DHX57	2	39088222	Frame_Shift_Del	DEL	A	TCGA-28-6450-01A-11D-1696-08		39088222	204111151	10	15012											
SEMA4F	10505	broad.mit.edu	37	2	74902997	74902997	+	Missense_Mutation	SNP	G	G	A	rs146294784		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:74902997G>A	uc002sna.1	+	11	1715	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	SEMA4F_uc010ffq.1_Missense_Mutation_p.R502Q|SEMA4F_uc010ffr.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snb.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snc.1_Missense_Mutation_p.R380Q	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	535	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGGAGCTTCCGGCTGGATGAG	0.587													A	74902997	G	A	74902997	3	1	220	1	0	0	0	0	1	0	0	0	14035	1116	39	2	1650	2	SEMA4F	2	74902997	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	35814775	74902997	168296376	11	15013											
KYNU	8942	broad.mit.edu	37	2	143713833	143713833	+	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:143713833C>A	uc010fnm.3	+	6	713	c.497C>A	c.(496-498)cCt>cAt	p.P166H	KYNU_uc002tvk.3_Missense_Mutation_p.P166H|KYNU_uc002tvl.3_Missense_Mutation_p.P166H	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	166	Pyridoxal phosphate binding.				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.P166L(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AAAGCCTTCCCTTCTGATCAT	0.343													A	143713833	C	A	143713833	3	1	220	1	0	0	0	0	1	0	0	0	8587	681	24	5	515	5	KYNU	2	143713833	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	68810836	143713833	99485540	12	15014											
SPC25	57405	broad.mit.edu	37	2	169728042	169728042	+	Missense_Mutation	SNP	C	C	T	rs146133605	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:169728042C>T	uc002uel.3	-	6	705	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	192	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						GCTAGGCCCTCAAGATGAGGG	0.338													T	169728042	C	T	169728042	3	4	220	1	0	0	0	0	1	0	0	0	15021	835	29	3	104	3	SPC25	2	169728042	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	26014209	169728042	73471331	13	15015											
LRP2	4036	broad.mit.edu	37	2	170050292	170050292	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:170050292C>T	uc002ues.3	-	46	9022	c.8809G>A	c.(8809-8811)Gag>Aag	p.E2937K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2937	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTTATCCTCGTCACTCATA	0.473													T	170050292	C	T	170050292	3	4	220	1	0	0	0	0	1	0	0	0	8956	893	31	2	5290	2	LRP2	2	170050292	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	322250	170050292	73149081	14	15016											
GPD1L	23171	broad.mit.edu	37	3	32180198	32180198	+	Silent	SNP	G	G	A	rs149167213		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:32180198G>A	uc003cew.3	+	2	546	c.345G>A	c.(343-345)gcG>gcA	p.A115A		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.	115					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						CCAAGAAAGCGCTGGGAATCA	0.502													A	32180198	G	A	32180198	2	1	220	1	0	0	0	0	0	0	0	1	6605	1074	38	1		1	GPD1L	3	32180198	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08		32180198	165842232	15	15017											
RUVBL1	8607	broad.mit.edu	37	3	127806571	127806571	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:127806571T>C	uc003ekh.3	-	8	1201	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C	RUVBL1_uc003ekf.3_Missense_Mutation_p.Y306C|RUVBL1_uc010hss.3_Missense_Mutation_p.Y366C	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.	366					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGTGGAGTATACAGCATGGT	0.507													C	127806571	T	C	127806571	3	2	220	1	0	0	0	0	1	0	0	0	13752	1406	49	4	285	4	RUVBL1	3	127806571	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	95626373	127806571	70215859	16	15018											
PIK3CA	5290	broad.mit.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:178936094C>A	uc003fjk.3	+	9	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.Q546K(183)|p.E545A(96)|p.E545G(79)|p.Q546R(28)|p.Q546E(24)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.Q546P(15)|p.Q546L(6)|p.E545V(6)|p.Q546H(5)|p.(542_545)E>K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936094	C	A	178936094	3	1	220	1	0	0	0	0	1	0	0	0	11913	711	25	5	1670	5	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	51129523	178936094	19086336	17	15019											
MFSD10	10227	broad.mit.edu	37	4	2934851	2934851	+	Silent	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:2934851C>T	uc003gfw.3	-	2	668	c.354G>A	c.(352-354)ccG>ccA	p.P118P	MFSD10_uc021xks.1_Silent_p.P42P|MFSD10_uc003gfz.3_Silent_p.P118P|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	118					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGCATCACCGGGCGCCTCC	0.627													T	2934851	C	T	2934851	2	4	220	1	0	0	0	0	0	0	0	1	9528	639	23	2		2	MFSD10	4	2934851	Silent	SNP	C	TCGA-28-6450-01A-11D-1696-08		2934851	188219425	18	15020											
UGT2A3	79799	broad.mit.edu	37	4	69798434	69798434	+	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:69798434A>G	uc003hef.2	-	2	939	c.908T>C	c.(907-909)gTg>gCg	p.V303A	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	303						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAAACACCACAATACCATC	0.363													G	69798434	A	G	69798434	3	3	220	1	0	0	0	0	1	0	0	0	16952	159	6	4	691	4	UGT2A3	4	69798434	Missense_Mutation	SNP	A	TCGA-28-6450-01A-11D-1696-08	66863583	69798434	121355842	19	15021											
PRKG2	5593	broad.mit.edu	37	4	82125748	82125748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:82125748delC	uc003hmh.2	-	0	467	c.454delG	c.(454-456)gacfs	p.D152fs	PRKG2_uc011cch.1_Frame_Shift_Del_p.D152fs	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	152					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TACCTGGAGTCTTTTCTGACT	0.428													-	82125748	C	-	82125748	7	5	220	1	0	1	0	1	0	0	0	0	12523	913	32	0	1906	0	PRKG2	4	82125748	Frame_Shift_Del	DEL	C	TCGA-28-6450-01A-11D-1696-08	12327314	82125748	109028528	20	15022											
FGG	2266	broad.mit.edu	37	4	155527975	155527975	+	Missense_Mutation	SNP	C	C	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:155527975C>A	uc003ioj.3	-	7	1152	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H	FGG_uc003iog.3_Missense_Mutation_p.Q337H	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	337	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGGTACTGAACTGCATGCCAT	0.473													A	155527975	C	A	155527975	3	1	220	1	0	0	0	0	1	0	0	0	5870	564	20	5	377	5	FGG	4	155527975	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	73402227	155527975	35626301	21	15023											
FBXO8	26269	broad.mit.edu	37	4	175160248	175160248	+	Silent	SNP	G	G	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:175160248G>C	uc003itp.3	-	4	1519	c.669C>G	c.(667-669)gcC>gcG	p.A223A	FBXO8_uc003itq.3_Silent_p.A182A	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	Homo sapiens F-box protein 8 (FBXO8), mRNA.	223	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GCTCTTCAGGGGCATGGATAT	0.398													C	175160248	G	C	175160248	2	2	220	1	0	0	0	0	0	0	0	1	5761	1219	43	5		5	FBXO8	4	175160248	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	19632273	175160248	15994028	22	15024											
PLEKHG4B	153478	broad.mit.edu	37	5	161999	161999	+	Missense_Mutation	SNP	G	G	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:161999G>T	uc003jak.2	+	9	1571	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	507					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			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)		TGGTCAGCCAGGCTGAGTGCA	0.627													T	161999	G	T	161999	3	4	220	1	0	0	0	0	1	0	0	0	12072	991	35	5	1559	5	PLEKHG4B	5	161999	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		161999	180753261	23	15025											
HCN1	348980	broad.mit.edu	37	5	45262526	45262526	+	Missense_Mutation	SNP	C	C	T	rs141383188	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:45262526C>T	uc003jok.3	-	7	2195	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	724						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGCTGGGAGGCGGTGGGGGAG	0.652													T	45262526	C	T	45262526	3	4	220	1	0	0	0	0	1	0	0	0	6996	768	27	1	506	1	HCN1	5	45262526	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	45100527	45262526	135652734	24	15026											
PCDHAC2	56141	broad.mit.edu	37	5	140214002	140214002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:140214002C>T	uc003lhq.2	+	0	34	c.34C>T	c.(34-36)Cga>Tga	p.R12*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Nonsense_Mutation_p.R12*	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGGGGGCCGACATCTACT	0.468													T	140214002	C	T	140214002	4	4	220	1	0	0	0	0	0	1	0	0	11533	644	23	2		2	PCDHAC2	5	140214002	Nonsense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	94951476	140214002	40701258	25	15027											
PCDHGC5	56102	broad.mit.edu	37	5	140751755	140751755	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:140751755G>A	uc003ljw.2	+	0	1794	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	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_Silent_p.S598S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	599	Cadherin 6.				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)			ACGCAGACTCGGGATACAACG	0.672													A	140751755	G	A	140751755	2	1	220	1	0	0	0	0	0	0	0	1	11571	1103	39	2		2	PCDHGC5	5	140751755	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	537753	140751755	40163505	26	15028											
DRD1	1812	broad.mit.edu	37	5	174869045	174869045	+	Missense_Mutation	SNP	G	G	A	rs144813919	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:174869045G>A	uc003mcz.3	-	1	2003	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	DRD1_uc021yia.1_Missense_Mutation_p.A353V	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	353					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	ATTATTCGTCGCAGGGCAAAG	0.478													A	174869045	G	A	174869045	3	1	220	1	0	0	0	0	1	0	0	0	4756	1087	38	1	286	1	DRD1	5	174869045	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	34117290	174869045	6046215	27	15029											
NKAPL	222698	broad.mit.edu	37	6	28227813	28227813	+	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:28227813A>G	uc003nkt.3	+	0	716	c.664A>G	c.(664-666)Aga>Gga	p.R222G	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	222	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TGATAAAAAGAGAGTTAAAGC	0.313													G	28227813	A	G	28227813	3	3	220	1	0	0	0	0	1	0	0	0	10440	296	11	4	666	4	NKAPL	6	28227813	Missense_Mutation	SNP	A	TCGA-28-6450-01A-11D-1696-08		28227813	142887254	28	15030											
PPP1R10	5514	broad.mit.edu	37	6	30573989	30573989	+	Silent	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:30573989A>G	uc003nqn.1	-	8	1218	c.666T>C	c.(664-666)ccT>ccC	p.P222P	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	222	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCTTCTTCACAGGCACCAAGG	0.527													G	30573989	A	G	30573989	2	3	220	1	0	0	0	0	0	0	0	1	12352	175	7	4		4	PPP1R10	6	30573989	Silent	SNP	A	TCGA-28-6450-01A-11D-1696-08	2346176	30573989	140541078	29	15031											
COL11A2	1302	broad.mit.edu	37	6	33141808	33141808	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:33141808G>A	uc003ocx.1	-	32	2737	c.2509C>T	c.(2509-2511)Cgg>Tgg	p.R837W	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.R751W|COL11A2_uc003ocz.1_Missense_Mutation_p.R730W	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	837	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.P836S(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGTTCTCCCCGAGGCCCTGAC	0.612													A	33141808	G	A	33141808	3	1	220	1	0	0	0	0	1	0	0	0	3668	1057	37	2	2837	2	COL11A2	6	33141808	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	2567819	33141808	137973259	30	15032											
NOX3	50508	broad.mit.edu	37	6	155743956	155743957	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:155743956_155743957TC>AA	uc003qqm.3	-	9	1282_1283	c.1179_1180GA>TT	c.(1177-1182)ctgaca>ctTTca	p.T394S		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	394	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			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)		AATACATCTGTCAGGGCAGTTC	0.52													AA	155743957	TC	AA	155743956	3	1	220	1	0	0	0	0	1	0	0	0	10557	1667	58	5	542	5	NOX3	6	155743956	Missense_Mutation	DNP	TC	TCGA-28-6450-01A-11D-1696-08	122602148	155743956	15371111	31	15033											
PPP1R9A	55607	broad.mit.edu	37	7	94827740	94827740	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr7:94827740C>T	uc003unp.3	+	5	2116	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	PPP1R9A_uc010lfj.3_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.2_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.3_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.2_Missense_Mutation_p.R612C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	612	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.478										HNSCC(28;0.073)			T	94827740	C	T	94827740	3	4	220	1	0	0	0	0	1	0	0	0	12378	768	27	1	1852	1	PPP1R9A	7	94827740	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		94827740	64310923	32	15034											
EPHB6	2051	broad.mit.edu	37	7	142561895	142561895	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr7:142561895G>A	uc011kst.2	+	6	1124	c.337G>A	c.(337-339)Gca>Aca	p.A113T	EPHB6_uc011ksu.2_Missense_Mutation_p.A113T|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	113						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTCTGTGCGGGCATGCTCCAG	0.657													A	142561895	G	A	142561895	3	1	220	1	0	0	0	0	1	0	0	0	5178	1203	42	3	347	3	EPHB6	7	142561895	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	47734155	142561895	16576768	33	15035											
IDO1	3620	broad.mit.edu	37	8	39781104	39781104	+	Silent	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr8:39781104C>T	uc003xnm.3	+	7	769	c.655_splice	c.e7+1	p.D219_splice		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	219					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ACCAAATCCACGGCAAGTGTT	0.433													T	39781104	C	T	39781104	2	4	220	1	0	0	0	0	0	0	0	1	7501	550	19	1		1	IDO1	8	39781104	Silent	SNP	C	TCGA-28-6450-01A-11D-1696-08		39781104	106582918	34	15036											
TAF1L	138474	broad.mit.edu	37	9	32632187	32632187	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr9:32632187T>C	uc003zrg.1	-	0	3481	c.3391A>G	c.(3391-3393)Aaa>Gaa	p.K1131E	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1131					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			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)		GAGCTGGTTTTCTTGTTCTGC	0.468													C	32632187	T	C	32632187	3	2	220	1	0	0	0	0	1	0	0	0	15520	1792	62	4	2093	4	TAF1L	9	32632187	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08		32632187	108581244	35	15037											
GPR107	57720	broad.mit.edu	37	9	132842036	132842036	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr9:132842036C>G	uc004bze.2	+	4	741	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	GPR107_uc004bzb.2_5'UTR|GPR107_uc011mbx.1_Missense_Mutation_p.Q172E|GPR107_uc004bzd.2_Missense_Mutation_p.Q172E	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	172						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CAACCAGACCCAGAAGACACA	0.433													G	132842036	C	G	132842036	3	3	220	1	0	0	0	0	1	0	0	0	6623	595	21	5	532	5	GPR107	9	132842036	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	100209849	132842036	8371395	36	15038											
CUBN	8029	broad.mit.edu	37	10	16873370	16873370	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:16873370C>T	uc001ioo.3	-	64	10461	c.10409G>A	c.(10408-10410)tGt>tAt	p.C3470Y		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3470	CUB 26.				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			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)	CAGAGTTCCACAGTACTTGCC	0.368													T	16873370	C	T	16873370	3	4	220	1	0	0	0	0	1	0	0	0	4051	478	17	3	474	3	CUBN	10	16873370	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		16873370	118661377	37	15039											
ARMC3	219681	broad.mit.edu	37	10	23287264	23287264	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:23287264G>A	uc001irm.4	+	10	1446	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	ARMC3_uc010qcv.2_Missense_Mutation_p.V455M|ARMC3_uc010qcw.2_Missense_Mutation_p.V192M	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	455							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAACACAGTCGTGCAGAGCAA	0.498													A	23287264	G	A	23287264	3	1	220	1	0	0	0	0	1	0	0	0	952	1145	40	1	1401	1	ARMC3	10	23287264	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	6413894	23287264	112247483	38	15040											
MICAL2	9645	broad.mit.edu	37	11	12261088	12261088	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr11:12261088G>A	uc001mjz.3	+	16	2458	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	MICAL2_uc010rch.1_Missense_Mutation_p.A724T|MICAL2_uc001mka.3_Missense_Mutation_p.A724T|MICAL2_uc010rci.2_Missense_Mutation_p.A724T|MICAL2_uc001mkb.3_Missense_Mutation_p.A724T|MICAL2_uc001mkc.3_Missense_Mutation_p.A724T|MICAL2_uc001mkd.3_Missense_Mutation_p.A553T|MICAL2_uc010rcj.2_Missense_Mutation_p.A126T|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	724						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAGCTGCTGGCCAAGTTTGA	0.493													A	12261088	G	A	12261088	3	1	220	1	0	0	0	0	1	0	0	0	9570	1203	42	3	2228	3	MICAL2	11	12261088	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		12261088	122745428	39	15041											
ABCC9	10060	broad.mit.edu	37	12	21954093	21954093	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:21954093G>A	uc001rfh.3	-	37	4555	c.4535C>T	c.(4534-4536)aCg>aTg	p.T1512M		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1512	ABC transporter 2.				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			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)	CAGGTCTGCCGTCAGAATAGT	0.383													A	21954093	G	A	21954093	3	1	220	1	0	0	0	0	1	0	0	0	59	1145	40	1	118	1	ABCC9	12	21954093	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		21954093	111897802	40	15042											
OR6C75	390323	broad.mit.edu	37	12	55758950	55758950	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:55758950C>T	uc010spk.2	+	0	56	c.56C>T	c.(55-57)cCa>cTa	p.P19L		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACAAGTGACCCACAGTGGCAG	0.363													T	55758950	C	T	55758950	3	4	220	1	0	0	0	0	1	0	0	0	11199	594	21	3	58	3	OR6C75	12	55758950	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	33804857	55758950	78092945	41	15043											
CUX2	23316	broad.mit.edu	37	12	111742051	111742051	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:111742051G>A	uc001tsa.2	+	9	945	c.791G>A	c.(790-792)cGg>cAg	p.R264Q		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAAGTCTCCGGGAACAGCTG	0.652													A	111742051	G	A	111742051	3	1	220	1	0	0	0	0	1	0	0	0	4065	1116	39	2	829	2	CUX2	12	111742051	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	55983101	111742051	22109844	42	15044											
LCP1	3936	broad.mit.edu	37	13	46718596	46718596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr13:46718596G>A	uc001vaz.4	-	10	1360	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	LCP1_uc010ack.3_5'Flank|LCP1_uc001vay.4_Nonsense_Mutation_p.R9*|LCP1_uc001vba.4_Nonsense_Mutation_p.R412*	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	412	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		TGATTGACTCGAGGGTTAACA	0.418			T	BCL6	NHL								A	46718596	G	A	46718596	4	1	220	1	0	0	0	0	0	1	0	0	8691	1066	37	2	673	2	LCP1	13	46718596	Nonsense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		46718596	68451282	43	15045											
RGS6	9628	broad.mit.edu	37	14	72943451	72943451	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr14:72943451C>G	uc001xna.4	+	11	1217	c.694_splice	c.e11-1	p.S232_splice	RGS6_uc021rvv.1_Splice_Site_p.S197_splice|RGS6_uc010ttn.2_Splice_Site_p.S232_splice|RGS6_uc021rvw.1_Splice_Site_p.S232_splice|RGS6_uc021rvx.1_Splice_Site_p.S232_splice|RGS6_uc021rvy.1_Splice_Site_p.S232_splice|RGS6_uc021rvz.1_Splice_Site_p.S232_splice|RGS6_uc001xmy.4_Splice_Site_p.S232_splice|RGS6_uc010tto.2_Splice_Site|RGS6_uc001xmx.4_Splice_Site_p.S232_splice|RGS6_uc021rwa.1_Splice_Site_p.S232_splice|RGS6_uc021rwb.1_Splice_Site_p.S232_splice|RGS6_uc010ttp.1_Splice_Site_p.S163_splice|RGS6_uc021rwc.1_Splice_Site_p.S93_splice	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	232					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|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCTCCTAGTCCGTGTATGGC	0.517													G	72943451	C	G	72943451	3	3	220	1	0	0	0	0	1	0	0	0	13309	869	30	5	733	5	RGS6	14	72943451	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		72943451	34406089	44	15046											
CCPG1	9236	broad.mit.edu	37	15	55652658	55652658	+	Missense_Mutation	SNP	A	A	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr15:55652658A>G	uc010bfk.2	-	7	1612	c.1313T>C	c.(1312-1314)cTa>cCa	p.L438P	CCPG1_uc002acy.3_Missense_Mutation_p.L438P|CCPG1_uc002acu.2_Missense_Mutation_p.L294P|CCPG1_uc002acz.2_Missense_Mutation_p.L438P|CCPG1_uc002acw.2_Missense_Mutation_p.L163P|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Missense_Mutation_p.L438P|CCPG1_uc021smu.1_Missense_Mutation_p.L58P	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	438					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCGAAGGTTAGCTTCCGTTC	0.413													G	55652658	A	G	55652658	3	3	220	1	0	0	0	0	1	0	0	0	2938	420	15	4	964	4	CCPG1	15	55652658	Missense_Mutation	SNP	A	TCGA-28-6450-01A-11D-1696-08		55652658	46878734	45	15047											
POLG	5428	broad.mit.edu	37	15	89876416	89876416	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr15:89876416G>A	uc002bns.4	-	1	852	c.570C>T	c.(568-570)ccC>ccT	p.P190P	POLG_uc002bnr.4_Silent_p.P190P|TRNA_Arg_uc021sue.1_5'Flank	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	190					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCCGCTCCTCGGGGATGGCCA	0.711								DNA polymerases (catalytic subunits)					A	89876416	G	A	89876416	2	1	220	1	0	0	0	0	0	0	0	1	12200	1103	39	2		2	POLG	15	89876416	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	34223758	89876416	12654976	46	15048											
IFT140	9742	broad.mit.edu	37	16	1574572	1574572	+	Missense_Mutation	SNP	T	T	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:1574572T>A	uc002cmb.3	-	23	3484	c.3122A>T	c.(3121-3123)aAt>aTt	p.N1041I	IFT140_uc002clz.3_Missense_Mutation_p.N654I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1041										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCGGATGGCATTCTTGAAGGC	0.652													A	1574572	T	A	1574572	3	1	220	1	0	0	0	0	1	0	0	0	7556	1493	52	5	1298	5	IFT140	16	1574572	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08		1574572	88780181	47	15049											
ZNF768	79724	broad.mit.edu	37	16	30535896	30535897	+	Missense_Mutation	DNP	AA	AA	GC			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:30535896_30535897AA>GC	uc002dyk.4	-	1	1740_1741	c.1564_1565TT>GC	c.(1564-1566)ttc>GCc	p.F522A	ZNF768_uc010vex.2_Missense_Mutation_p.F491A|ZNF768_uc010vew.2_Missense_Mutation_p.F491A	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	522					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTCTGGGAGAAGGCCTTTCCG	0.678													GC	30535897	AA	GC	30535896	3	3	220	1	0	0	0	0	1	0	0	0	18138	246	9	4	61	4	ZNF768	16	30535896	Missense_Mutation	DNP	AA	TCGA-28-6450-01A-11D-1696-08	28961324	30535896	59818857	48	15050											
ZNF629	23361	broad.mit.edu	37	16	30795519	30795519	+	Missense_Mutation	SNP	T	T	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:30795519T>G	uc002dzs.1	-	2	338	c.130A>C	c.(130-132)Atc>Ctc	p.I44L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCATGATGATCTCCTCCCCA	0.577													G	30795519	T	G	30795519	3	3	220	1	0	0	0	0	1	0	0	0	18050	1435	50	5	2483	5	ZNF629	16	30795519	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	259623	30795519	59559234	49	15051											
PKD1L2	114780	broad.mit.edu	37	16	81151072	81151072	+	Missense_Mutation	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:81151072G>A	uc002fgh.1	-	40	6671	c.6671C>T	c.(6670-6672)gCc>gTc	p.A2224V	PKD1L2_uc002fgf.1_Missense_Mutation_p.A26V|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2226					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			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						CAGGATGATGGCCAGCTCCAG	0.612													A	81151072	G	A	81151072	3	1	220	1	0	0	0	0	1	0	0	0	11965	1203	42	3	722	3	PKD1L2	16	81151072	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	50355553	81151072	9203681	50	15052											
NF1	4763	broad.mit.edu	37	17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:29527568_29527569delCT	uc002hgg.3	+	8	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.N339fs	NF1_uc002hge.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgf.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgh.3_Frame_Shift_Del_p.N339fs|NF1_uc010csn.2_Frame_Shift_Del_p.N199fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	339					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29527569	CT	-	29527568	7	5	220	1	0	1	0	1	0	0	0	0	10356	564	20	0	1051	0	NF1	17	29527568	Frame_Shift_Del	DEL	CT	TCGA-28-6450-01A-11D-1696-08		29527568	51667642	51	15053											
NF1	4763	broad.mit.edu	37	17	29684388	29684391	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:29684388_29684391delGTAA	uc002hgg.3	+	54	8353	c.7970_splice	c.e54+1	p.V2657_splice	NF1_uc002hgh.3_Splice_Site_p.V2636_splice|NF1_uc010cso.3_Splice_Site_p.V845_splice|NF1_uc010wbt.1_Splice_Site_p.V135_splice|NF1_uc010wbu.1_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2657					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCCTGTTGTGTAAGTATCTCCTT	0.377			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29684391	GTAA	-	29684388	8	5	220	1	0	1	0	1	0	0	1	0	10356	1391	48	0	8246	0	NF1	17	29684388	Splice_Site	DEL	GTAA	TCGA-28-6450-01A-11D-1696-08	156820	29684388	51510822	52	15054											
KRT31	3881	broad.mit.edu	37	17	39550299	39550299	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:39550299C>T	uc002hwn.3	-	6	1273	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KRT31_uc010cxn.3_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	407	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.P406A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGGCCCACAGCGGGGGCGTGG	0.632													T	39550299	C	T	39550299	3	4	220	1	0	0	0	0	1	0	0	0	8467	768	27	1	34	1	KRT31	17	39550299	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	9865911	39550299	41644911	53	15055											
LAMA1	284217	broad.mit.edu	37	18	6985300	6985300	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:6985300C>T	uc002knm.3	-	38	5690	c.5596G>A	c.(5596-5598)Gac>Aac	p.D1866N	LAMA1_uc010wzj.2_Missense_Mutation_p.D1342N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1866	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGACCAGGTCGACTGCGTTC	0.507													T	6985300	C	T	6985300	3	4	220	1	0	0	0	0	1	0	0	0	8605	884	31	2	3731	2	LAMA1	18	6985300	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		6985300	71091948	54	15056											
ME2	4200	broad.mit.edu	37	18	48450505	48450505	+	Missense_Mutation	SNP	T	T	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:48450505T>G	uc002ley.3	+	10	1353	c.1094T>G	c.(1093-1095)tTt>tGt	p.F365C	ME2_uc010dpd.3_Missense_Mutation_p.F365C	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	365					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CAGGAACCATTTACTCACTCA	0.313													G	48450505	T	G	48450505	3	3	220	1	0	0	0	0	1	0	0	0	9418	1841	64	5	1132	5	ME2	18	48450505	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	41465205	48450505	29626743	55	15057											
ZNF350	59348	broad.mit.edu	37	19	52472376	52472376	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:52472376T>C	uc002pyd.3	-	2	252	c.24A>G	c.(22-24)atA>atG	p.I8M	BC014606_uc002pyc.3_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	Homo sapiens zinc finger protein 350 (ZNF350), mRNA.	8	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCTCCAGTGTTATGGATTCCT	0.453													C	52472376	T	C	52472376	3	2	220	1	0	0	0	0	1	0	0	0	17860	1744	61	4	1586	4	ZNF350	19	52472376	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08		52472376	6656607	56	15058											
PEG3	5178	broad.mit.edu	37	19	57327924	57327924	+	Missense_Mutation	SNP	C	C	G	rs140555816	by1000genomes	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57327924C>G	uc002qnu.2	-	6	2237	c.1886G>C	c.(1885-1887)tGt>tCt	p.C629S	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C600S|PEG3_uc002qnv.2_Missense_Mutation_p.C629S|PEG3_uc002qnw.2_Missense_Mutation_p.C505S|PEG3_uc002qnx.2_Missense_Mutation_p.C503S|PEG3_uc010etr.2_Missense_Mutation_p.C629S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	629					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		ACACACCTTACATTCGTACAT	0.443													G	57327924	C	G	57327924	3	3	220	1	0	0	0	0	1	0	0	0	11720	478	17	5	2884	5	PEG3	19	57327924	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	4855548	57327924	1801059	57	15059			1	37		4	4	621	C		4.003519e-10
PEG3	5178	broad.mit.edu	37	19	57327945	57327945	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57327945C>G	uc002qnu.2	-	6	2216	c.1865G>C	c.(1864-1866)gGt>gCt	p.G622A	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G593A|PEG3_uc002qnv.2_Missense_Mutation_p.G622A|PEG3_uc002qnw.2_Missense_Mutation_p.G498A|PEG3_uc002qnx.2_Missense_Mutation_p.G496A|PEG3_uc010etr.2_Missense_Mutation_p.G622A	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	622					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y621Y(1)		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)		TTTCTCTTTACCATACATTTT	0.443													G	57327945	C	G	57327945	3	3	220	1	0	0	0	0	1	0	0	0	11720	507	18	5	2905	5	PEG3	19	57327945	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	21	57327945	1801038	58	15060			1	37		4	4	621	C		4.003519e-10
PEG3	5178	broad.mit.edu	37	19	57328102	57328102	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57328102C>G	uc002qnu.2	-	6	2059	c.1708G>C	c.(1708-1710)Gaa>Caa	p.E570Q	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E541Q|PEG3_uc002qnv.2_Missense_Mutation_p.E570Q|PEG3_uc002qnw.2_Missense_Mutation_p.E446Q|PEG3_uc002qnx.2_Missense_Mutation_p.E444Q|PEG3_uc010etr.2_Missense_Mutation_p.E570Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	570					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		AGGAAGGTTTCCTTACACACC	0.448													G	57328102	C	G	57328102	3	3	220	1	0	0	0	0	1	0	0	0	11720	864	30	5	3062	5	PEG3	19	57328102	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	157	57328102	1800881	59	15061			1	37		4	4	621	C		4.003519e-10
PEG3	5178	broad.mit.edu	37	19	57328544	57328544	+	Missense_Mutation	SNP	C	C	G			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57328544C>G	uc002qnu.2	-	6	1617	c.1266G>C	c.(1264-1266)atG>atC	p.M422I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M393I|PEG3_uc002qnv.2_Missense_Mutation_p.M422I|PEG3_uc002qnw.2_Missense_Mutation_p.M298I|PEG3_uc002qnx.2_Missense_Mutation_p.M296I|PEG3_uc010etr.2_Missense_Mutation_p.M422I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	422					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E421E(1)		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)		TGGCTTTTCTCATCTCACTAC	0.493													G	57328544	C	G	57328544	3	3	220	1	0	0	0	0	1	0	0	0	11720	826	29	5	3504	5	PEG3	19	57328544	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	442	57328544	1800439	60	15062			1	37		4	4	621	C		4.003519e-10
SLC12A5	57468	broad.mit.edu	37	20	44669236	44669236	+	Silent	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:44669236C>T	uc010zxl.1	+	6	982	c.906C>T	c.(904-906)ttC>ttT	p.F302F	SLC12A5_uc002xra.2_Silent_p.F279F|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.F279F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	302					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			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)	AGTCTGCCTTCGACCCACCCA	0.557													T	44669236	C	T	44669236	2	4	220	1	0	0	0	0	0	0	0	1	14386	883	31	2		2	SLC12A5	20	44669236	Silent	SNP	C	TCGA-28-6450-01A-11D-1696-08		44669236	18356284	61	15063											
STAU1	6780	broad.mit.edu	37	20	47734907	47734907	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:47734907delG	uc002xud.3	-	9	1563	c.1152delC	c.(1150-1152)accfs	p.T384fs	STAU1_uc002xua.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xub.3_Frame_Shift_Del_p.T309fs|STAU1_uc002xuc.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xue.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xuf.3_Frame_Shift_Del_p.T309fs|STAU1_uc002xug.3_Frame_Shift_Del_p.T384fs	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	384				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).		microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTCAAAAAAGGTTACTTTTC	0.388													-	47734907	G	-	47734907	7	5	220	1	0	1	0	1	0	0	0	0	15271	987	35	0	601	0	STAU1	20	47734907	Frame_Shift_Del	DEL	G	TCGA-28-6450-01A-11D-1696-08	3065671	47734907	15290613	62	15064											
KLHL34	257240	broad.mit.edu	37	X	21675508	21675508	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:21675508G>A	uc004czz.1	-	0	941	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	133	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTTGGCGGCGAAGCAGCAGT	0.697													A	21675508	G	A	21675508	2	1	220	1	0	0	0	0	0	0	0	1	8387	1049	37	2		2	KLHL34	23	21675508	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08		21675508	133595052	63	15065											
GPR34	2857	broad.mit.edu	37	X	41555067	41555067	+	Missense_Mutation	SNP	T	T	C			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:41555067T>C	uc022bvc.1	+	0	181	c.181T>C	c.(181-183)Tac>Cac	p.Y61H	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.Y61H|GPR34_uc004dfq.4_Missense_Mutation_p.Y61H|GPR34_uc010nhg.3_Missense_Mutation_p.Y61H|GPR34_uc004dfr.4_Missense_Mutation_p.Y61H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	61						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACCACATCCTACTCTGTTAT	0.398													C	41555067	T	C	41555067	3	2	220	1	0	0	0	0	1	0	0	0	6689	1522	53	4	183	4	GPR34	23	41555067	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	19879559	41555067	113715493	64	15066											
MAGEC3	139081	broad.mit.edu	37	X	140967026	140967026	+	Silent	SNP	G	G	A			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:140967026G>A	uc011mwp.2	+	2	324	c.324G>A	c.(322-324)ccG>ccA	p.P108P		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	108										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)					GGAGTCAGCCGGAGGGGAAGT	0.562													A	140967026	G	A	140967026	2	1	220	1	0	0	0	0	0	0	0	1	9182	1103	39	2		2	MAGEC3	23	140967026	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	99411959	140967026	14303534	65	15067											
ZNF275	10838	broad.mit.edu	37	X	152612297	152612297	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:152612297C>T	uc011myn.2	+	1					ZNF275_uc004fhg.2_Missense_Mutation_p.H52Y|ZNF275_uc022cht.1_5'UTR|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.							intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCGACCCGACACCAGATGAA	0.552													T	152612297	C	T	152612297	3	4	220	1	0	0	0	0	1	0	0	0	17807	478	17	3	164	3	ZNF275	23	152612297	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	11645271	152612297	2658263	66	15068											
L1CAM	3897	broad.mit.edu	37	X	153128302	153128302	+	Missense_Mutation	SNP	C	C	T			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:153128302C>T	uc004fjb.3	-	27	3698	c.3590G>A	c.(3589-3591)gGg>gAg	p.G1197E	L1CAM_uc004fjc.3_Missense_Mutation_p.G1193E|L1CAM_uc010nuo.3_Missense_Mutation_p.G1188E	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1197					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					CTTGATGTCCCCGTTGAGCGA	0.607													T	153128302	C	T	153128302	3	4	220	1	0	0	0	0	1	0	0	0	8588	623	22	3	187	3	L1CAM	23	153128302	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	516005	153128302	2142258	67	15069											
TNFRSF8	943	broad.mit.edu	37	1	12164492	12164492	+	Nonsense_Mutation	SNP	C	C	T	rs148756853		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:12164492C>T	uc001atq.3	+	3	547	c.325C>T	c.(325-327)Cga>Tga	p.R109*	TNFRSF8_uc010obc.2_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	109					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGAATGTCGACCCGGCAT	0.577													T	12164492	C	T	12164492	4	4	221	1	0	0	0	0	0	1	0	0	16296	876	31	2	339	2	TNFRSF8	1	12164492	Nonsense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		12164492	237086129	1	15070											
DPH2	1802	broad.mit.edu	37	1	44437537	44437537	+	Silent	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:44437537G>T	uc001ckz.3	+	3	1158	c.963G>T	c.(961-963)cgG>cgT	p.R321R	DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Silent_p.R186R|DPH2_uc001clb.3_Silent_p.R245R	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	321					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCCTGGGGCGGCCCACCCCTG	0.607													T	44437537	G	T	44437537	2	4	221	1	0	0	0	0	0	0	0	1	4720	1190	42	5		5	DPH2	1	44437537	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	32273045	44437537	204813084	2	15071											
PTGFR	5737	broad.mit.edu	37	1	79002163	79002163	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:79002163C>T	uc001din.3	+	2	1137	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	291					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R291R(1)|p.R290M(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TTTTGCTCTCCGAATGGCAAC	0.388													T	79002163	C	T	79002163	4	4	221	1	0	0	0	0	0	1	0	0	12749	644	23	2	952	2	PTGFR	1	79002163	Nonsense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	34564626	79002163	170248458	3	15072											
HRNR	388697	broad.mit.edu	37	1	152193260	152193260	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:152193260C>G	uc001ezt.1	-	2	921	c.845G>C	c.(844-846)aGc>aCc	p.S282T		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	282					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCATAGCTGGAAGACGA	0.587													G	152193260	C	G	152193260	3	3	221	1	0	0	0	0	1	0	0	0	7359	797	28	5	7711	5	HRNR	1	152193260	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	73191097	152193260	97057361	4	15073											
IQGAP3	128239	broad.mit.edu	37	1	156518190	156518190	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:156518190G>C	uc001fpf.3	-	17	2158	c.2083C>G	c.(2083-2085)Cct>Gct	p.P695A		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	695					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGCCAGGAGGTTGCTCCCAG	0.557													C	156518190	G	C	156518190	3	2	221	1	0	0	0	0	1	0	0	0	7816	1261	44	5	2896	5	IQGAP3	1	156518190	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	4324930	156518190	92732431	5	15074											
ASPM	259266	broad.mit.edu	37	1	197061071	197061071	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:197061071G>T	uc001gtu.3	-	21	9667	c.9410C>A	c.(9409-9411)gCt>gAt	p.A3137D	ASPM_uc001gtv.3_Missense_Mutation_p.A1552D|ASPM_uc001gtw.4_Missense_Mutation_p.A985D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3137					mitosis	cytoplasm|nucleus	calmodulin binding			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						CTGCTTGTTAGCATTCTTCAC	0.338													T	197061071	G	T	197061071	3	4	221	1	0	0	0	0	1	0	0	0	1056	971	34	5	1051	5	ASPM	1	197061071	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	40542881	197061071	52189550	6	15075											
OR2W5	441932	broad.mit.edu	37	1	247654810	247654810	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:247654810C>T	uc001icz.2	+	0	441	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	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;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGCCGTCTGCCGGTCCCTGC	0.587													T	247654810	C	T	247654810	2	4	221	1	0	0	0	0	0	0	0	1	11034	747	26	3		3	OR2W5	1	247654810	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	50593739	247654810	1595811	7	15076											
TRIM58	25893	broad.mit.edu	37	1	248039235	248039235	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248039235C>T	uc001ido.3	+	5	953	c.905C>T	c.(904-906)cCg>cTg	p.P302L	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	302	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACGGCGCACCCGAGTCTGCTC	0.557													T	248039235	C	T	248039235	3	4	221	1	0	0	0	0	1	0	0	0	16528	652	23	2	927	2	TRIM58	1	248039235	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	384425	248039235	1211386	8	15077											
OR2L3	391192	broad.mit.edu	37	1	248224640	248224640	+	Silent	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248224640G>T	uc001idx.1	+	0	657	c.657G>T	c.(655-657)cgG>cgT	p.R219R	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			CCTATGGCCGGGTTCTCCTTG	0.498													T	248224640	G	T	248224640	2	4	221	1	0	0	0	0	0	0	0	1	11008	1219	43	5		5	OR2L3	1	248224640	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	185405	248224640	1025981	9	15078											
OR2G6	391211	broad.mit.edu	37	1	248685400	248685400	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248685400C>T	uc001ien.1	+	0	453	c.453C>T	c.(451-453)agC>agT	p.S151S		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGGCTCAGCGGCCTCATCA	0.577													T	248685400	C	T	248685400	2	4	221	1	0	0	0	0	0	0	0	1	11000	767	27	1		1	OR2G6	1	248685400	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	460760	248685400	565221	10	15079											
EHD3	30845	broad.mit.edu	37	2	31484475	31484475	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:31484475A>T	uc002rnu.3	+	4	1584	c.976A>T	c.(976-978)Aac>Tac	p.N326Y	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	326					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			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGGGAAGGACAACAAGAAGAA	0.552													T	31484475	A	T	31484475	3	4	221	1	0	0	0	0	1	0	0	0	4979	130	5	5	994	5	EHD3	2	31484475	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08		31484475	211714898	11	15080											
DPP10	57628	broad.mit.edu	37	2	116497460	116497460	+	Silent	SNP	G	G	A	rs146251151		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:116497460G>A	uc002tle.3	+	8	876	c.855G>A	c.(853-855)ccG>ccA	p.P285P	DPP10_uc002tla.2_Silent_p.P281P|DPP10_uc002tlb.2_Silent_p.P231P|DPP10_uc002tlc.2_Silent_p.P277P|DPP10_uc002tlf.2_Silent_p.P274P	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	281					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAGTATCCGTATCCTAAGG	0.423													A	116497460	G	A	116497460	2	1	221	1	0	0	0	0	0	0	0	1	4727	1132	40	1		1	DPP10	2	116497460	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	85012985	116497460	126701913	12	15081											
UGGT1	56886	broad.mit.edu	37	2	128939777	128939777	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:128939777G>T	uc002tps.3	+	36	4335	c.4157G>T	c.(4156-4158)tGt>tTt	p.C1386F	UGGT1_uc002tpr.3_Missense_Mutation_p.C1362F	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1386	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCCTTTCTGTGACAGCCGA	0.418													T	128939777	G	T	128939777	3	4	221	1	0	0	0	0	1	0	0	0	16938	1377	48	5	4303	5	UGGT1	2	128939777	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	12442317	128939777	114259596	13	15082											
GCA	25801	broad.mit.edu	37	2	163204170	163204170	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:163204170G>C	uc002ucg.3	+	1	286	c.110G>C	c.(109-111)gGa>gCa	p.G37A		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	37					cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	p.G37*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CTCCTCGATGGATACTCTGGG	0.463													C	163204170	G	C	163204170	3	2	221	1	0	0	0	0	1	0	0	0	6283	1174	41	5	116	5	GCA	2	163204170	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	34264393	163204170	79995203	14	15083											
TTN	7273	broad.mit.edu	37	2	179598493	179598493	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:179598493A>G	uc021vsy.1	-	49	12116	c.11891T>C	c.(11890-11892)aTc>aCc	p.I3964T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I625T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4891							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)			GTCTTCTCTGATGACCTCTTG	0.448													G	179598493	A	G	179598493	3	3	221	1	0	0	0	0	1	0	0	0	16732	333	12	4	89146	4	TTN	2	179598493	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08	16394323	179598493	63600880	15	15084											
GLS	2744	broad.mit.edu	37	2	191765419	191765419	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:191765419G>A	uc002usf.2	+	4	999	c.735_splice	c.e4+1	p.K245_splice	GLS_uc002use.2_Splice_Site_p.K245_splice	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	245					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGAGGAAAGGTAATGCTTT	0.323													A	191765419	G	A	191765419	2	1	221	1	0	0	0	0	0	0	0	1	6463	1014	35	3		3	GLS	2	191765419	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	12166926	191765419	51433954	16	15085											
RBMS3	27303	broad.mit.edu	37	3	30032601	30032601	+	Missense_Mutation	SNP	C	C	G	rs143165101		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:30032601C>G	uc003cel.3	+	13	1578	c.1208C>G	c.(1207-1209)aCa>aGa	p.T403R	RBMS3_uc010hfq.3_Missense_Mutation_p.T400R|RBMS3_uc003cek.3_Missense_Mutation_p.T387R|RBMS3_uc010hfr.3_Missense_Mutation_p.T387R|RBMS3_uc003cem.3_Missense_Mutation_p.T385R	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	403						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TCTCCCCAGACAGTGGCACCT	0.483													G	30032601	C	G	30032601	3	3	221	1	0	0	0	0	1	0	0	0	13150	478	17	5	1305	5	RBMS3	3	30032601	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		30032601	167989829	17	15086											
CCR9	10803	broad.mit.edu	37	3	45942421	45942421	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:45942421G>A	uc003coz.2	+	2	321	c.141G>A	c.(139-141)gcG>gcA	p.A47A	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.A35A|CCR9_uc003cpa.2_Silent_p.A35A|CCR9_uc021wwv.1_Silent_p.A35A	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	47					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGCAGTTTGCGAGCCATTTCC	0.468													A	45942421	G	A	45942421	2	1	221	1	0	0	0	0	0	0	0	1	2948	1045	37	2		2	CCR9	3	45942421	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	15909820	45942421	152080009	18	15087											
STAB1	23166	broad.mit.edu	37	3	52540233	52540233	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:52540233G>A	uc003dej.3	+	16	1871	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	STAB1_uc003dei.1_Silent_p.A599A	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	599	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.A599A(2)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCACCATGGCGAACCAGGTCC	0.622													A	52540233	G	A	52540233	2	1	221	1	0	0	0	0	0	0	0	1	15236	1045	37	2		2	STAB1	3	52540233	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	6597812	52540233	145482197	19	15088											
GCET2	257144	broad.mit.edu	37	3	111852081	111852081	+	Translation_Start_Site	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:111852081G>A	uc021xcl.1	-	0					GCET2_uc003dys.2_5'UTR|GCET2_uc021xcm.1_5'UTR	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.							mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						CTGGCCACCCGTGCAGAGACA	0.557													A	111852081	G	A	111852081	1	1	221	1	0	0	0	0	0	0	0	0	6288	1160	40	1		1	GCET2	3	111852081	Translation_Start_Site	SNP	G	TCGA-32-1970-01A-01D-1494-08	59311848	111852081	86170349	20	15089											
STXBP5L	9515	broad.mit.edu	37	3	120764376	120764376	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:120764376G>A	uc003eec.4	+	4	604	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	STXBP5L_uc011bji.2_Missense_Mutation_p.R155Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	155					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.R155L(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAATTTAACCGGGAACGGTAA	0.358													A	120764376	G	A	120764376	3	1	221	1	0	0	0	0	1	0	0	0	15356	1116	39	2	478	2	STXBP5L	3	120764376	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	8912295	120764376	77258054	21	15090											
MECOM	2122	broad.mit.edu	37	3	168833869	168833869	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:168833869C>T	uc011bpj.1	-	7	2194	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	MECOM_uc010hwk.1_Silent_p.S432S|MECOM_uc003ffj.3_Silent_p.S474S|MECOM_uc003ffi.3_Silent_p.S409S|MECOM_uc011bpi.1_Silent_p.S410S|MECOM_uc003ffn.3_Silent_p.S409S|MECOM_uc003ffk.2_Silent_p.S409S|MECOM_uc003ffl.2_Silent_p.S569S|MECOM_uc011bpk.1_Silent_p.S409S|MECOM_uc010hwn.2_Silent_p.S597S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATCAGAGCCCGAGGTTGTTT	0.423													T	168833869	C	T	168833869	2	4	221	1	0	0	0	0	0	0	0	1	9422	639	23	2		2	MECOM	3	168833869	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	48069493	168833869	29188561	22	15091											
ACAP2	23527	broad.mit.edu	37	3	195102729	195102729	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:195102729A>G	uc003fun.4	-	2	375	c.134T>C	c.(133-135)aTg>aCg	p.M45T	ACAP2_uc003fuo.3_Missense_Mutation_p.M45T	NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	45	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGTATCAATCATTGCAATACA	0.343													G	195102729	A	G	195102729	3	3	221	1	0	0	0	0	1	0	0	0	119	217	8	4	2286	4	ACAP2	3	195102729	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08	26268860	195102729	2919701	23	15092											
TNK2	10188	broad.mit.edu	37	3	195597005	195597006	+	Frame_Shift_Ins	INS	-	-	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:195597005_195597006insG	uc003fvu.1	-	10	2065_2066	c.1522_1523insC	c.(1522-1524)cagfs	p.Q508fs	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Frame_Shift_Ins_p.Q18fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.Q540fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.Q571fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Frame_Shift_Ins_p.Q338fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	508				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCTAGATGCTGGGGGGGCCGG	0.614													G	195597006	-	G	195597005	7	5	221	1	0	1	1	0	0	0	0	0	16315	1580	55	0	1662	0	TNK2	3	195597005	Frame_Shift_Ins	INS	-	TCGA-32-1970-01A-01D-1494-08	494276	195597005	2425425	24	15093											
GPR78	27201	broad.mit.edu	37	4	8583361	8583361	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr4:8583361G>A	uc003glk.3	+	0	1145	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	218					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGCGCTGCTCGCCGACCTGCA	0.687													A	8583361	G	A	8583361	3	1	221	1	0	0	0	0	1	0	0	0	6710	1087	38	1	654	1	GPR78	4	8583361	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		8583361	182570915	25	15094											
FGB	2244	broad.mit.edu	37	4	155487823	155487823	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr4:155487823A>T	uc003ioa.4	+	3	529	c.490_splice	c.e3+1	p.D164_splice	FGB_uc010ipu.1_Splice_Site|FGB_uc010ipv.3_Splice_Site_p.D105_splice	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	164		Cleavage; by plasmin; to break down fibrin clots.			platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCAAGTAAAAGGTAGATATC	0.403													T	155487823	A	T	155487823	3	4	221	1	0	0	0	0	1	0	0	0	5831	86	3	5	499	5	FGB	4	155487823	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08	146904462	155487823	35666453	26	15095											
C5orf42	65250	broad.mit.edu	37	5	37167302	37167302	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:37167302T>A	uc011cpa.1	-	34	7478	c.7247A>T	c.(7246-7248)cAa>cTa	p.Q2416L	C5orf42_uc011coy.1_Missense_Mutation_p.Q916L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.Q1491L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2416										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGGATAAGTTGTGTTTTTTT	0.313													A	37167302	T	A	37167302	3	1	221	1	0	0	0	0	1	0	0	0	2301	1812	63	5	2418	5	C5orf42	5	37167302	Missense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08		37167302	143747958	27	15096											
C7	730	broad.mit.edu	37	5	40976859	40976859	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:40976859G>A	uc003jmh.3	+	15	2196	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	694					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TAGAAAATCCGTTAACACAGG	0.433													A	40976859	G	A	40976859	2	1	221	1	0	0	0	0	0	0	0	1	2375	1132	40	1		1	C7	5	40976859	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	3809557	40976859	139938401	28	15097											
ACTBL2	345651	broad.mit.edu	37	5	56778318	56778318	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:56778318C>T	uc003jrm.3	-	0	319	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	73						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		ACTCCATGCTCGATAGGATAC	0.542													T	56778318	C	T	56778318	3	4	221	1	0	0	0	0	1	0	0	0	194	893	31	2	917	2	ACTBL2	5	56778318	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	15801459	56778318	124136942	29	15098											
GPR98	84059	broad.mit.edu	37	5	89990447	89990447	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:89990447G>A	uc003kju.3	+	32	7970	c.7874G>A	c.(7873-7875)cGt>cAt	p.R2625H	GPR98_uc003kjt.3_Missense_Mutation_p.R331H|GPR98_uc003kjv.3_Missense_Mutation_p.R225H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2625					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCGAATGGCGTGTTGTTGGT	0.473													A	89990447	G	A	89990447	3	1	221	1	0	0	0	0	1	0	0	0	6721	1145	40	1	8004	1	GPR98	5	89990447	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	33212129	89990447	90924813	30	15099											
PCDHAC2	56146	broad.mit.edu	37	5	140176747	140176747	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:140176747C>T	uc003lhd.2	+	0	2304	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A733V|PCDHAC2_uc011czy.2_Missense_Mutation_p.A733V	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	752					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCGCGCCAGGAAAG	0.682													T	140176747	C	T	140176747	3	4	221	1	0	0	0	0	1	0	0	0	11533	768	27	1		1	PCDHAC2	5	140176747	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	50186300	140176747	40738513	31	15100											
PCDHGC5	56104	broad.mit.edu	37	5	140730079	140730079	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:140730079C>T	uc003ljo.2	+	0	252	c.252C>T	c.(250-252)aaC>aaT	p.N84N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.N84N	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	87	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N84N(2)		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)			TGTTAGTGAACGGTAGGATAG	0.473											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	140730079	C	T	140730079	2	4	221	1	0	0	0	0	0	0	0	1	11571	535	19	1		1	PCDHGC5	5	140730079	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	553332	140730079	40185181	32	15101											
FAM71B	153745	broad.mit.edu	37	5	156592869	156592869	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:156592869C>T	uc003lwn.3	-	0	411	c.311G>A	c.(310-312)cGg>cAg	p.R104Q		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	104						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGGCAAACCGGCCCCATCT	0.542													T	156592869	C	T	156592869	3	4	221	1	0	0	0	0	1	0	0	0	5608	652	23	2	1514	2	FAM71B	5	156592869	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	15862790	156592869	24322391	33	15102											
RANBP17	64901	broad.mit.edu	37	5	170725815	170725815	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:170725815C>T	uc003mba.3	+	27	3362	c.3220C>T	c.(3220-3222)Cgc>Tgc	p.R1074C	RANBP17_uc003mbb.3_Missense_Mutation_p.R399C|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	1074					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAGGCGTTGCGCAGTGATGG	0.502			T	TRD@	ALL								T	170725815	C	T	170725815	3	4	221	1	0	0	0	0	1	0	0	0	13027	768	27	1	3330	1	RANBP17	5	170725815	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	14132946	170725815	10189445	34	15103											
FBXW11	23291	broad.mit.edu	37	5	171299943	171299943	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:171299943G>A	uc003mbm.1	-	8	1581	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	FBXW11_uc011dey.1_Missense_Mutation_p.R372W|FBXW11_uc003mbl.1_Missense_Mutation_p.R391W|FBXW11_uc003mbn.1_Missense_Mutation_p.R370W	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	404					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R404Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAATGCCCCGCTTGTGCCCA	0.463													A	171299943	G	A	171299943	3	1	221	1	0	0	0	0	1	0	0	0	5764	1086	38	1	434	1	FBXW11	5	171299943	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	574128	171299943	9615317	35	15104											
BCLAF1	9774	broad.mit.edu	37	6	136597406	136597406	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr6:136597406C>A	uc003qgx.1	-	4	1510	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	BCLAF1_uc003qgy.1_Missense_Mutation_p.Q417H|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.Q417H|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	419					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACTTTTACCCTGATCTGCGA	0.418													A	136597406	C	A	136597406	3	1	221	1	0	0	0	0	1	0	0	0	1383	680	24	5	1541	5	BCLAF1	6	136597406	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		136597406	34517661	36	15105											
CDK13	8621	broad.mit.edu	37	7	40127783	40127783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:40127783C>T	uc003thh.4	+	11	3370	c.3088C>T	c.(3088-3090)Cag>Tag	p.Q1030*	CDK13_uc003thi.4_Nonsense_Mutation_p.Q1030*|CDK13_uc003thj.3_Nonsense_Mutation_p.Q81*	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1030					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.K1029K(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGACAGAAGCAGATGGGCAT	0.423													T	40127783	C	T	40127783	4	4	221	1	0	0	0	0	0	1	0	0	3129	711	25	3	3134	3	CDK13	7	40127783	Nonsense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		40127783	119010880	37	15106											
ABCA13	154664	broad.mit.edu	37	7	48287917	48287917	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:48287917C>G	uc003toq.2	+	13	1765	c.1741C>G	c.(1741-1743)Ctt>Gtt	p.L581V	ABCA13_uc010kyr.2_Missense_Mutation_p.L84V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	581					transport	integral to membrane	ATP binding|ATPase activity			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						CTGGCAGGAACTTGAGATGCA	0.428													G	48287917	C	G	48287917	3	3	221	1	0	0	0	0	1	0	0	0	31	565	20	5	1624	5	ABCA13	7	48287917	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	8160134	48287917	110850746	38	15107											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	221	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	6933905	55221822	103916841	39	15108											
PSPH	5723	broad.mit.edu	37	7	56088826	56088826	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:56088826C>G	uc003trj.3	-	1	482	c.167G>C	c.(166-168)aGa>aCa	p.R56T	PSPH_uc003trh.3_Missense_Mutation_p.R27T|PSPH_uc003tri.3_Missense_Mutation_p.R27T	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	27					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCTTCTTCTCTGATGACCGT	0.448													G	56088826	C	G	56088826	3	3	221	1	0	0	0	0	1	0	0	0	12717	913	32	5	617	5	PSPH	7	56088826	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	867004	56088826	103049837	40	15109											
ZNF735	730291	broad.mit.edu	37	7	63680236	63680236	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:63680236C>T	uc011kdn.2	+	3	807	c.807C>T	c.(805-807)taC>taT	p.Y269Y		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGAAACCCTACGCATGTGAAG	0.458													T	63680236	C	T	63680236	2	4	221	1	0	0	0	0	0	0	0	1	18121	547	19	1		1	ZNF735	7	63680236	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	7591410	63680236	95458427	41	15110											
ZNF107	51427	broad.mit.edu	37	7	64167281	64167281	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:64167281C>A	uc003ttd.3	+	6	1385	c.599C>A	c.(598-600)gCc>gAc	p.A200D	ZNF107_uc003tte.3_Missense_Mutation_p.A200D	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTAAACAGGCCTCACACCTT	0.373													A	64167281	C	A	64167281	3	1	221	1	0	0	0	0	1	0	0	0	17712	739	26	5	605	5	ZNF107	7	64167281	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	487045	64167281	94971382	42	15111											
MAGI2	9863	broad.mit.edu	37	7	77807399	77807399	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:77807399C>T	uc003ugx.3	-	13	2586	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	MAGI2_uc003ugy.3_Missense_Mutation_p.D764N|MAGI2_uc010ldx.1_Missense_Mutation_p.D371N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	778	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGATGAACATCCAATTCCTTA	0.453													T	77807399	C	T	77807399	3	4	221	1	0	0	0	0	1	0	0	0	9191	855	30	3	2071	3	MAGI2	7	77807399	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	13640118	77807399	81331264	43	15112											
PCLO	27445	broad.mit.edu	37	7	82582560	82582560	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:82582560G>A	uc003uhx.2	-	4	7998	c.7709C>T	c.(7708-7710)cCa>cTa	p.P2570L	PCLO_uc003uhv.2_Missense_Mutation_p.P2570L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2501					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						GGAAAATCTTGGTGAAGACTT	0.403													A	82582560	G	A	82582560	3	1	221	1	0	0	0	0	1	0	0	0	11583	1348	47	3	7820	3	PCLO	7	82582560	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	4775161	82582560	76556103	44	15113											
GRM3	2913	broad.mit.edu	37	7	86416220	86416220	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86416220G>A	uc003uid.3	+	2	2211	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	GRM3_uc010lef.3_Missense_Mutation_p.R369H|GRM3_uc010leg.3_Missense_Mutation_p.R243H|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	371					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCACAGGCGCGTCTGCGAC	0.567													A	86416220	G	A	86416220	3	1	221	1	0	0	0	0	1	0	0	0	6798	1087	38	1	1118	1	GRM3	7	86416220	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	3833660	86416220	72722443	45	15114											
GRM3	2913	broad.mit.edu	37	7	86416334	86416334	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86416334G>A	uc003uid.3	+	2	2325	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	GRM3_uc010lef.3_Missense_Mutation_p.R407H|GRM3_uc010leg.3_Missense_Mutation_p.R281H|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	409					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAAATGCAGCGCACCCTCTGT	0.498													A	86416334	G	A	86416334	3	1	221	1	0	0	0	0	1	0	0	0	6798	1087	38	1	1232	1	GRM3	7	86416334	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	114	86416334	72722329	46	15115											
GRM3	2913	broad.mit.edu	37	7	86468918	86468918	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86468918C>T	uc003uid.3	+	3	3187	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.I568I|GRM3_uc010leh.3_Silent_p.I288I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	696					synaptic transmission	integral to plasma membrane		p.I696T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGGGTCTGATCCTGGTGCAAA	0.527													T	86468918	C	T	86468918	2	4	221	1	0	0	0	0	0	0	0	1	6798	845	30	3		3	GRM3	7	86468918	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	52584	86468918	72669745	47	15116											
STEAP1	26872	broad.mit.edu	37	7	89791325	89791325	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:89791325T>C	uc003ujx.3	+	3	895	c.695T>C	c.(694-696)cTg>cCg	p.L232P	STEAP1_uc010lem.3_Missense_Mutation_p.L232P	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	232	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATACTGGCTCTGTTGGCTGTG	0.378													C	89791325	T	C	89791325	3	2	221	1	0	0	0	0	1	0	0	0	15276	1580	55	4	705	4	STEAP1	7	89791325	Missense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08	3322407	89791325	69347338	48	15117											
TRPV5	56302	broad.mit.edu	37	7	142611855	142611855	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:142611855G>A	uc003wby.1	-	11	1738	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	492					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R492H(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGCAGAAACGCATTAGGTCT	0.463													A	142611855	G	A	142611855	3	1	221	1	0	0	0	0	1	0	0	0	16596	1087	38	1	731	1	TRPV5	7	142611855	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	52820530	142611855	16526808	49	15118											
GATA4	2626	broad.mit.edu	37	8	11607623	11607623	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:11607623G>A	uc011kxc.1	+	2	1247	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	GATA4_uc003wub.1_Missense_Mutation_p.A57T|GATA4_uc003wuc.2_Missense_Mutation_p.A263T	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	263					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTTGCAGTCCGCCTCCCGCCG	0.637													A	11607623	G	A	11607623	3	1	221	1	0	0	0	0	1	0	0	0	6256	1087	38	1	797	1	GATA4	8	11607623	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		11607623	134756399	50	15119											
ENPP2	5168	broad.mit.edu	37	8	120629759	120629759	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:120629759C>T	uc003yos.2	-	5	610	c.524G>A	c.(523-525)cGt>cAt	p.R175H	ENPP2_uc010mdd.2_Missense_Mutation_p.R175H|ENPP2_uc003yot.2_Missense_Mutation_p.R175H	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	175					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTATGATGCACGGAAGCCATC	0.373													T	120629759	C	T	120629759	3	4	221	1	0	0	0	0	1	0	0	0	5130	536	19	1	2386	1	ENPP2	8	120629759	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	109022136	120629759	25734263	51	15120											
BAI1	575	broad.mit.edu	37	8	143625027	143625027	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:143625027C>T	uc003ywm.3	+	28	4698	c.4515C>T	c.(4513-4515)caC>caT	p.H1505H		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1505	Necessary for interaction with MAGI1.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCTGCAGCACGCAGCGGAGA	0.662													T	143625027	C	T	143625027	2	4	221	1	0	0	0	0	0	0	0	1	1298	535	19	1		1	BAI1	8	143625027	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	22995268	143625027	2738995	52	15121											
OR13C9	286362	broad.mit.edu	37	9	107379553	107379553	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:107379553C>T	uc011lvr.2	-	0	933	c.933G>A	c.(931-933)ccG>ccA	p.P311P		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L310I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACCTTCTGTTCGGTAGGTGTT	0.353													T	107379553	C	T	107379553	2	4	221	1	0	0	0	0	0	0	0	1	10939	871	31	2		2	OR13C9	9	107379553	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08		107379553	33833878	53	15122											
CEL	1056	broad.mit.edu	37	9	135945963	135945963	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:135945963G>A	uc010naa.1	+	9	1427	c.1411G>A	c.(1411-1413)Gcc>Acc	p.A471T		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	468					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAAGCCCTTCGCCACCCCCAC	0.582													A	135945963	G	A	135945963	3	1	221	1	0	0	0	0	1	0	0	0	3209	1087	38	1	1449	1	CEL	9	135945963	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	28566410	135945963	5267468	54	15123											
ITIH5	80760	broad.mit.edu	37	10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:7605143G>A	uc021pmv.1	-	13	2838	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_uc021pmu.1_Missense_Mutation_p.A697V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	911					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522													A	7605143	G	A	7605143	3	1	221	1	0	0	0	0	1	0	0	0	7907	1203	42	3	142	3	ITIH5	10	7605143	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		7605143	127929604	55	15124											
ITIH5	80760	broad.mit.edu	37	10	7659109	7659109	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:7659109G>T	uc021pmv.1	-	5	895	c.789C>A	c.(787-789)gaC>gaA	p.D263E	ITIH5_uc021pmu.1_Missense_Mutation_p.D49E|ITIH5_uc001ijr.2_Missense_Mutation_p.D263E	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	263					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTCTATTGACGTCATATCTAA	0.388													T	7659109	G	T	7659109	3	4	221	1	0	0	0	0	1	0	0	0	7907	1136	40	5	2198	5	ITIH5	10	7659109	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	53966	7659109	127875638	56	15125											
CYP2C19	1562	broad.mit.edu	37	10	96447617	96447617	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:96447617C>T	uc001kjv.4	+	1	585	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	CYP2C19_uc001kjw.4_Silent_p.L87L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	87					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAAGGAGGCCCTGATTGATCA	0.433													T	96447617	C	T	96447617	2	4	221	1	0	0	0	0	0	0	0	1	4166	680	24	3		3	CYP2C19	10	96447617	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	88788508	96447617	39087130	57	15126											
SOX6	55553	broad.mit.edu	37	11	16007846	16007846	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:16007846C>T	uc001mme.3	-	14	2159	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	SOX6_uc001mmd.3_Missense_Mutation_p.R672H|SOX6_uc001mmf.3_Missense_Mutation_p.R669H|SOX6_uc001mmg.3_Missense_Mutation_p.R676H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	696					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.G708V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AATGCAGGTGCGTTTCGGTCG	0.473													T	16007846	C	T	16007846	3	4	221	1	0	0	0	0	1	0	0	0	14955	768	27	1	407	1	SOX6	11	16007846	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		16007846	118998670	58	15127											
MRGPRX3	117195	broad.mit.edu	37	11	18158842	18158842	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:18158842G>A	uc021qek.1	+	0	93	c.93G>A	c.(91-93)acG>acA	p.T31T	MRGPRX3_uc001mnu.3_Silent_p.T31T	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	31						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGAGCTTCACGGGGCTGACGT	0.567													A	18158842	G	A	18158842	2	1	221	1	0	0	0	0	0	0	0	1	9768	1103	39	2		2	MRGPRX3	11	18158842	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	2150996	18158842	116847674	59	15128											
MYBPC3	4607	broad.mit.edu	37	11	47360181	47360181	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:47360181C>T	uc021qis.1	-	22	2253	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	MYBPC3_uc021qir.1_Missense_Mutation_p.R385H|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	732	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAGATGCTGCGGTCCTTGGT	0.632													T	47360181	C	T	47360181	3	4	221	1	0	0	0	0	1	0	0	0	10013	768	27	1	1674	1	MYBPC3	11	47360181	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	29201339	47360181	87646335	60	15129											
OR4B1	119765	broad.mit.edu	37	11	48238965	48238965	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:48238965G>A	uc010rhs.2	+	0	604	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCCAACAGTGGATTATTCTC	0.473													A	48238965	G	A	48238965	3	1	221	1	0	0	0	0	1	0	0	0	11044	1349	47	3	606	3	OR4B1	11	48238965	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	878784	48238965	86767551	61	15130											
RTN4RL2	349667	broad.mit.edu	37	11	57235097	57235097	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:57235097G>C	uc010rjt.2	+	1	47	c.47G>C	c.(46-48)tGc>tCc	p.C16S		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA.	16					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCCTCGGCCTGCCTCCTGCTG	0.682													C	57235097	G	C	57235097	3	2	221	1	0	0	0	0	1	0	0	0	13732	1319	46	5	53	5	RTN4RL2	11	57235097	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	8996132	57235097	77771419	62	15131											
OR1S1	219959	broad.mit.edu	37	11	57982381	57982381	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:57982381C>T	uc010rkc.2	+	0	165	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGATTGGGAACGGGCTCATCA	0.443													T	57982381	C	T	57982381	2	4	221	1	0	0	0	0	0	0	0	1	10972	535	19	1		1	OR1S1	11	57982381	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	747284	57982381	77024135	63	15132											
MS4A3	932	broad.mit.edu	37	11	59837091	59837091	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:59837091C>T	uc001nom.3	+	5	686	c.558C>T	c.(556-558)tgC>tgT	p.C186C	MS4A3_uc001non.3_Silent_p.C140C|MS4A3_uc001noo.3_Silent_p.C63C	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	186						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.C186C(2)|p.L185S(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGGAATTATGCGTAACCATCT	0.413													T	59837091	C	T	59837091	2	4	221	1	0	0	0	0	0	0	0	1	9861	776	27	1		1	MS4A3	11	59837091	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	1854710	59837091	75169425	64	15133											
POLD4	57804	broad.mit.edu	37	11	67120265	67120265	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:67120265G>A	uc001okm.3	-	2	378	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.3_Non-coding_Transcript	NM_021173	NP_066996	Q9HCU8	DPOD4_HUMAN	Homo sapiens polymerase (DNA-directed), delta 4 (POLD4), mRNA.	66					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			CGCTGCAGCCGTGTGATCCCT	0.637													A	67120265	G	A	67120265	3	1	221	1	0	0	0	0	1	0	0	0	12193	1144	40	1	135	1	POLD4	11	67120265	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	7283174	67120265	67886251	65	15134											
MTNR1B	4544	broad.mit.edu	37	11	92714860	92714860	+	Silent	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:92714860C>A	uc001pdk.1	+	1	574	c.471C>A	c.(469-471)acC>acA	p.T157T		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	157					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCTGGCACACCCCTCTGCACA	0.572													A	92714860	C	A	92714860	2	1	221	1	0	0	0	0	0	0	0	1	9952	610	22	5		5	MTNR1B	11	92714860	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	25594595	92714860	42291656	66	15135											
CWF19L2	143884	broad.mit.edu	37	11	107200691	107200691	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:107200691C>T	uc010rvp.2	-	16	2524	c.2494G>A	c.(2494-2496)Gcc>Acc	p.A832T	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	832							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATGACATGGGCAAACCCTCCG	0.383													T	107200691	C	T	107200691	3	4	221	1	0	0	0	0	1	0	0	0	4072	710	25	3	198	3	CWF19L2	11	107200691	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	14485831	107200691	27805825	67	15136											
PRPF40B	25766	broad.mit.edu	37	12	50030600	50030600	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:50030600C>T	uc001rur.1	+	14	1525	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	PRPF40B_uc001rup.1_Missense_Mutation_p.R510C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R482C|PRPF40B_uc001rus.1_Missense_Mutation_p.R431C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	488					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGGGAGCGACGCCAACAACG	0.562											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50030600	C	T	50030600	3	4	221	1	0	0	0	0	1	0	0	0	12572	536	19	1	1520	1	PRPF40B	12	50030600	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		50030600	83821295	68	15137											
CELA1	1990	broad.mit.edu	37	12	51723540	51723540	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:51723540G>A	uc001ryi.1	-	6	728	c.687C>T	c.(685-687)agC>agT	p.S229S		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	229	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TACAGCCCCGGCTGGACACAA	0.512													A	51723540	G	A	51723540	2	1	221	1	0	0	0	0	0	0	0	1	3210	1194	42	3		3	CELA1	12	51723540	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	1692940	51723540	82128355	69	15138											
STAT2	6773	broad.mit.edu	37	12	56748251	56748251	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:56748251A>G	uc001slc.3	-	8	985	c.782_splice	c.e8+1	p.W261_splice	STAT2_uc001sld.3_Splice_Site_p.W257_splice|STAT2_uc010sqn.2_Splice_Site_p.W257_splice	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	261					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ACCTCTCACCATGTCTCCAGC	0.527													G	56748251	A	G	56748251	3	3	221	1	0	0	0	0	1	0	0	0	15264	231	8	4	1842	4	STAT2	12	56748251	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08	5024711	56748251	77103644	70	15139											
UTP20	27340	broad.mit.edu	37	12	101750729	101750729	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:101750729C>A	uc001tia.1	+	42	5716	c.5560C>A	c.(5560-5562)Ctc>Atc	p.L1854I		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1854					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTGTGCCCTACTCAAGAACAG	0.363													A	101750729	C	A	101750729	3	1	221	1	0	0	0	0	1	0	0	0	17096	565	20	5	5730	5	UTP20	12	101750729	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	45002478	101750729	32101166	71	15140											
TMEM132B	114795	broad.mit.edu	37	12	125834519	125834519	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:125834519G>A	uc001uhe.1	+	1	582	c.574G>A	c.(574-576)Gag>Aag	p.E192K	TMEM132B_uc021rgl.1_Missense_Mutation_p.E82K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	192						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCTGCTGCCCGAGTGGTTCAG	0.632													A	125834519	G	A	125834519	3	1	221	1	0	0	0	0	1	0	0	0	16043	1059	37	2	580	2	TMEM132B	12	125834519	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	24083790	125834519	8017376	72	15141											
RB1	5925	broad.mit.edu	37	13	49039351	49039351	+	Nonsense_Mutation	SNP	T	T	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr13:49039351T>A	uc001vcb.3	+	22	2502	c.2336T>A	c.(2335-2337)tTg>tAg	p.L779*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCCTACCTTGTCACCAATA	0.398		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	49039351	T	A	49039351	4	1	221	1	0	0	0	0	0	1	0	0	13098	1821	63	5	2426	5	RB1	13	49039351	Nonsense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08		49039351	66130527	73	15142											
FGF14	2259	broad.mit.edu	37	13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr13:102375254G>A	uc001vpf.2	-	4	782	c.686C>T	c.(685-687)aCg>aTg	p.T229M	FGF14_uc001vpe.2_Missense_Mutation_p.T224M	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	224					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.T229M(2)|p.T224M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473													A	102375254	G	A	102375254	3	1	221	1	0	0	0	0	1	0	0	0	5843	1145	40	1	76	1	FGF14	13	102375254	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	53335903	102375254	12794624	74	15143											
RNF31	55072	broad.mit.edu	37	14	24627141	24627141	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:24627141C>A	uc001wmn.1	+	16	3011	c.2762C>A	c.(2761-2763)tCc>tAc	p.S921Y	RNF31_uc001wml.1_Missense_Mutation_p.S770Y|RNF31_uc010alg.1_Missense_Mutation_p.S680Y|RNF31_uc001wmo.1_Missense_Mutation_p.S388Y|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.S105Y|IRF9_uc001wmq.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	921					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GTGAAAAAGTCCCTGCACGGC	0.587													A	24627141	C	A	24627141	3	1	221	1	0	0	0	0	1	0	0	0	13487	855	30	5	2828	5	RNF31	14	24627141	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		24627141	82722399	75	15144											
FLRT2	23768	broad.mit.edu	37	14	86088466	86088466	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:86088466T>C	uc021rxf.1	+	0	608	c.608T>C	c.(607-609)cTc>cCc	p.L203P	FLRT2_uc001xvr.3_Missense_Mutation_p.L203P|FLRT2_uc010atd.3_Missense_Mutation_p.L203P	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	203					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCAGAATCTCACGAGCTTG	0.522													C	86088466	T	C	86088466	3	2	221	1	0	0	0	0	1	0	0	0	5939	1551	54	4	610	4	FLRT2	14	86088466	Missense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08	61461325	86088466	21261074	76	15145											
GATM	2628	broad.mit.edu	37	15	45668979	45668979	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:45668979G>T	uc001zvc.3	-	1	437	c.108C>A	c.(106-108)ttC>ttA	p.F36L	GATM_uc001zvb.3_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.F89L|LOC145663_uc021sko.1_5'Flank	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	36					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GGGTGCTCTGGAAAGTTCGCT	0.512													T	45668979	G	T	45668979	3	4	221	1	0	0	0	0	1	0	0	0	6263	1165	41	5	1195	5	GATM	15	45668979	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		45668979	56862413	77	15146											
MEGF11	84465	broad.mit.edu	37	15	66191203	66191203	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:66191203G>T	uc002apm.2	-	21	2978	c.2837C>A	c.(2836-2838)aCa>aAa	p.T946K	MEGF11_uc002apl.2_Missense_Mutation_p.T871K|MEGF11_uc002apn.1_Missense_Mutation_p.T946K	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	946						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GTCCTTAATTGTGGCGTAAGG	0.468													T	66191203	G	T	66191203	3	4	221	1	0	0	0	0	1	0	0	0	9461	1377	48	5	305	5	MEGF11	15	66191203	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	20522224	66191203	36340189	78	15147											
PGPEP1L	145814	broad.mit.edu	37	15	99512679	99512679	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:99512679C>T	uc002bum.3	-	3	646	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	PGPEP1L_uc010bop.3_Missense_Mutation_p.V62M|PGPEP1L_uc002bun.3_Missense_Mutation_p.V62M	NM_001102612	NP_001161374	A6NFU8	PGPIL_HUMAN	Homo sapiens pyroglutamyl-peptidase I-like (PGPEP1L), transcript variant 1, mRNA.	116					proteolysis		cysteine-type peptidase activity	p.D115N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GAAAAGATCACGTCGACACCC	0.627													T	99512679	C	T	99512679	3	4	221	1	0	0	0	0	1	0	0	0	11804	536	19	1	252	1	PGPEP1L	15	99512679	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	33321476	99512679	3018713	79	15148											
TMEM219	124446	broad.mit.edu	37	16	29979390	29979390	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:29979390A>G	uc002duw.2	+	3	567	c.400A>G	c.(400-402)Aca>Gca	p.T134A	BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.T134A|TMEM219_uc010bzk.1_Missense_Mutation_p.T134A|TMEM219_uc010bzl.1_Non-coding_Transcript	NM_194280	NP_919256	Q86XT9	TM219_HUMAN	Homo sapiens transmembrane protein 219 (TMEM219), transcript variant 2, mRNA.	134						integral to membrane				large_intestine(1)|lung(1)|prostate(2)	4						CAGGGTGACCACAGAAAGGAC	0.527													G	29979390	A	G	29979390	3	3	221	1	0	0	0	0	1	0	0	0	16139	159	6	4	410	4	TMEM219	16	29979390	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08		29979390	60375363	80	15149											
SNX20	124460	broad.mit.edu	37	16	50707501	50707501	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:50707501C>T	uc002egk.2	-	3	940	c.767G>A	c.(766-768)cGc>cAc	p.R256H	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	256					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	p.R256H(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGCCTGCAGGCGCTGCAGGGC	0.741													T	50707501	C	T	50707501	3	4	221	1	0	0	0	0	1	0	0	0	14892	768	27	1	330	1	SNX20	16	50707501	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	20728111	50707501	39647252	81	15150											
CPNE2	221184	broad.mit.edu	37	16	57153520	57153520	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:57153520C>T	uc010cct.2	+	7	1064	c.717C>T	c.(715-717)ccC>ccT	p.P239P	CPNE2_uc002eks.2_Silent_p.P213P|CPNE2_uc010ccu.2_Silent_p.P213P	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	213	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCACAGTGCCCTTGGTGTCCC	0.617													T	57153520	C	T	57153520	2	4	221	1	0	0	0	0	0	0	0	1	3812	668	24	3		3	CPNE2	16	57153520	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	6446019	57153520	33201233	82	15151											
PKD1L2	114780	broad.mit.edu	37	16	81181065	81181065	+	Missense_Mutation	SNP	C	C	T	rs113696594		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:81181065C>T	uc002fgh.1	-	29	5026	c.5026G>A	c.(5026-5028)Gcc>Acc	p.A1676T	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1676					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			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						CAGCCCAAGGCGGGGGATGGC	0.547													T	81181065	C	T	81181065	3	4	221	1	0	0	0	0	1	0	0	0	11965	768	27	1	2408	1	PKD1L2	16	81181065	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	24027545	81181065	9173688	83	15152											
GPS2	84461	broad.mit.edu	37	17	7220634	7220634	+	Silent	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:7220634G>A	uc002gga.1	-	27	4381	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.F1456F	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	138					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CAGGCTCCTCGAACCCTACCC	0.607													A	7220634	G	A	7220634	2	1	221	1	0	0	0	0	0	0	0	1	6733	1049	37	2		2	GPS2	17	7220634	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08		7220634	73974576	84	15153											
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:7577138C>G	uc002gim.2	-	7	994	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.G266E(49)|p.G266R(45)|p.G266V(36)|p.R267P(32)|p.R267W(23)|p.R267Q(20)|p.G266*(13)|p.R267L(10)|p.0?(8)|p.G266fs*79(5)|p.R267R(5)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.N268fs*77(3)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267G(1)|p.R267fs*78(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)		AAAGCTGTTCCGTCCCAGTAG	0.527		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)			G	7577138	C	G	7577138	3	3	221	1	0	0	0	0	1	0	0	0	16378	652	23	5	486	5	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	356504	7577138	73618072	85	15154											
SLC47A2	146802	broad.mit.edu	37	17	19618087	19618087	+	Missense_Mutation	SNP	C	C	T	rs148775490	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:19618087C>T	uc002gwe.4	-	2	416	c.241G>A	c.(241-243)Gga>Aga	p.G81R	SLC47A2_uc002gwg.4_Missense_Mutation_p.G81R|SLC47A2_uc002gwf.4_Missense_Mutation_p.G81R|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	81						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					ACAGAAACTCCGCAGACATTG	0.587													T	19618087	C	T	19618087	3	4	221	1	0	0	0	0	1	0	0	0	14648	661	23	2	1627	2	SLC47A2	17	19618087	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	12040949	19618087	61577123	86	15155											
DHRS13	147015	broad.mit.edu	37	17	27228288	27228288	+	Silent	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:27228288C>T	uc002hde.4	-	3	529	c.402G>A	c.(400-402)gcG>gcA	p.A134A	DHRS13_uc002hdd.4_Silent_p.A84A|DHRS13_uc010wba.2_Silent_p.A53A	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	134						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCAGGTTAAACGCCTCACGGG	0.592													T	27228288	C	T	27228288	2	4	221	1	0	0	0	0	0	0	0	1	4489	523	19	1		1	DHRS13	17	27228288	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	7610201	27228288	53966922	87	15156											
AXIN2	8313	broad.mit.edu	37	17	63553948	63553948	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:63553948G>A	uc002jfi.3	-	1	1080	c.791C>T	c.(790-792)aCg>aTg	p.T264M	AXIN2_uc010den.1_Missense_Mutation_p.T264M|AXIN2_uc002jfh.3_Missense_Mutation_p.T264M|AXIN2_uc002jfj.1_Missense_Mutation_p.T264M	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	264					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AACAGTTTCCGTGGACCTCAC	0.537									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				A	63553948	G	A	63553948	3	1	221	1	0	0	0	0	1	0	0	0	1237	1145	40	1	1780	1	AXIN2	17	63553948	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	36325660	63553948	17641262	88	15157											
EMR3	84658	broad.mit.edu	37	19	14785604	14785604	+	Translation_Start_Site	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:14785604C>T	uc002mzi.4	-	0					EMR3_uc010dzp.3_5'UTR|EMR3_uc010xnv.2_5'UTR	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.						neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGGTATCCCACGCCAGCCAGC	0.507													T	14785604	C	T	14785604	1	4	221	1	0	0	0	0	0	0	0	0	5106	551	19	1		1	EMR3	19	14785604	Translation_Start_Site	SNP	C	TCGA-32-1970-01A-01D-1494-08		14785604	44343379	89	15158											
F2RL3	9002	broad.mit.edu	37	19	17000950	17000950	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:17000950G>A	uc002nfa.3	+	1	851	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	226					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCGATCGCGTGCTCTGCCA	0.701													A	17000950	G	A	17000950	3	1	221	1	0	0	0	0	1	0	0	0	5346	1145	40	1	682	1	F2RL3	19	17000950	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	2215346	17000950	42128033	90	15159											
FFAR3	2865	broad.mit.edu	37	19	35849928	35849928	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:35849928C>T	uc002nzd.3	+	1	211	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	FFAR3_uc021usm.1_Missense_Mutation_p.R46C	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	46						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.R46R(1)|p.R45H(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCTGCAGCGCCGCCCGGTGGC	0.637													T	35849928	C	T	35849928	3	4	221	1	0	0	0	0	1	0	0	0	5829	652	23	2	138	2	FFAR3	19	35849928	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	18848978	35849928	23279055	91	15160											
ZNF229	7772	broad.mit.edu	37	19	44932920	44932920	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:44932920G>A	uc002oze.1	-	5	2470	c.2036C>T	c.(2035-2037)aCg>aTg	p.T679M	ZNF229_uc010ejk.1_Missense_Mutation_p.T333M|ZNF229_uc010ejl.1_Missense_Mutation_p.T673M	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTTTTTTCCCGTGTGGACTCG	0.512													A	44932920	G	A	44932920	3	1	221	1	0	0	0	0	1	0	0	0	17779	1145	40	1	445	1	ZNF229	19	44932920	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	9082992	44932920	14196063	92	15161											
ZNFX1	57169	broad.mit.edu	37	20	47887010	47887010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr20:47887010G>A	uc002xui.3	-	2	1586	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	447							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGAGCAATCGTTTGGAATTC	0.468													A	47887010	G	A	47887010	4	1	221	1	0	0	0	0	0	1	0	0	18202	1153	40	1	4465	1	ZNFX1	20	47887010	Nonsense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		47887010	15138510	93	15162											
PRIC285	85441	broad.mit.edu	37	20	62200284	62200284	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr20:62200284G>A	uc002yfm.2	-	5	2049	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	386					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCCCGGAGGCGCGAAGAGCAT	0.677													A	62200284	G	A	62200284	3	1	221	1	0	0	0	0	1	0	0	0	12485	1087	38	1	6875	1	PRIC285	20	62200284	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	14313274	62200284	825236	94	15163											
EGFL6	25975	broad.mit.edu	37	X	13624543	13624543	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chrX:13624543G>A	uc004cvj.3	+	5	853	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	EGFL6_uc004cvi.3_Missense_Mutation_p.R189Q|EGFL6_uc011mik.1_Missense_Mutation_p.R90Q	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	189	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CCCTACAATCGAAGATGTGTG	0.398													A	13624543	G	A	13624543	3	1	221	1	0	0	0	0	1	0	0	0	4963	1058	37	2	588	2	EGFL6	23	13624543	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		13624543	141646017	95	15164											
PLEKHN1	84069	broad.mit.edu	37	1	909247	909247	+	Missense_Mutation	SNP	C	C	T	rs72631892	by1000genomes	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:909247C>T	uc001ace.3	+	12	1660	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	PLEKHN1_uc001acd.3_Missense_Mutation_p.T490M|PLEKHN1_uc001acf.3_Missense_Mutation_p.T455M	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	542										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CGTGGACCCACGCCCTCGAGC	0.682													T	909247	C	T	909247	3	4	222	1	0	0	0	0	1	0	0	0	12083	536	19	1	1559	1	PLEKHN1	1	909247	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		909247	248341374	1	15165											
TAS1R2	80834	broad.mit.edu	37	1	19168299	19168299	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:19168299C>T	uc001bba.1	-	4	1516	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	505					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			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)	CCACAGGCTTCTTCTTTTGCC	0.562													T	19168299	C	T	19168299	2	4	222	1	0	0	0	0	0	0	0	1	15560	912	32	3		3	TAS1R2	1	19168299	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	18259052	19168299	230082322	2	15166											
RIMS3	9783	broad.mit.edu	37	1	41107474	41107474	+	Missense_Mutation	SNP	C	C	T	rs149583022		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:41107474C>T	uc001cfu.1	-	2	589	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	RIMS3_uc001cfv.1_Missense_Mutation_p.A42T	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	42					neurotransmitter transport	cell junction|synapse		p.A42T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGCTTCTTGGCGGTGGTGGTC	0.657													T	41107474	C	T	41107474	3	4	222	1	0	0	0	0	1	0	0	0	13369	768	27	1	826	1	RIMS3	1	41107474	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	21939175	41107474	208143147	3	15167											
PTPRF	5792	broad.mit.edu	37	1	44069550	44069550	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:44069550G>A	uc001cjr.3	+	15	3067	c.2727G>A	c.(2725-2727)agG>agA	p.R909R	PTPRF_uc001cjs.3_Silent_p.R900R|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Silent_p.R469R|PTPRF_uc001cjv.3_Silent_p.R369R|PTPRF_uc001cjw.3_Silent_p.R135R	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	909	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAGATCAGGACCCCCGAGG	0.627													A	44069550	G	A	44069550	2	1	222	1	0	0	0	0	0	0	0	1	12801	1165	41	3		3	PTPRF	1	44069550	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	2962076	44069550	205181071	4	15168											
WLS	79971	broad.mit.edu	37	1	68603590	68603590	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:68603590G>A	uc001dee.3	-	10	1685	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Silent_p.G463G|WLS_uc001deg.2_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	463					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTGTGACGCCGCCCCATTTCC	0.443													A	68603590	G	A	68603590	2	1	222	1	0	0	0	0	0	0	0	1	17373	1074	38	1		1	WLS	1	68603590	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	24534040	68603590	180647031	5	15169											
ATP1A1	476	broad.mit.edu	37	1	116943788	116943788	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:116943788C>T	uc001ege.3	+	19	3094	c.2755C>T	c.(2755-2757)Cac>Tac	p.H919Y	ATP1A1_uc010owv.1_Missense_Mutation_p.H888Y|ATP1A1_uc010oww.2_Missense_Mutation_p.H919Y|ATP1A1_uc010owx.2_Missense_Mutation_p.H888Y|ATP1A1OS_uc009whb.2_Intron|ATP1A1OS_uc001egg.3_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	919					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GTTCACCTGCCACACAGCCTT	0.532													T	116943788	C	T	116943788	3	4	222	1	0	0	0	0	1	0	0	0	1128	594	21	3	2849	3	ATP1A1	1	116943788	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	48340198	116943788	132306833	6	15170											
TBX15	6913	broad.mit.edu	37	1	119441665	119441665	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:119441665A>G	uc001ehl.1	-	6	1007	c.692T>C	c.(691-693)aTg>aCg	p.M231T	TBX15_uc009whj.1_Missense_Mutation_p.M22T	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	337						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCTTCTGCATGGTGGTGAA	0.527													G	119441665	A	G	119441665	3	3	222	1	0	0	0	0	1	0	0	0	15649	217	8	4	806	4	TBX15	1	119441665	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	2497877	119441665	129808956	7	15171											
SV2A	9900	broad.mit.edu	37	1	149885276	149885276	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:149885276G>A	uc001etg.3	-	1	608	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_uc001eth.2_Silent_p.D39D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	39	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D39D(4)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAATATTCGTCCTGGACTC	0.542													A	149885276	G	A	149885276	2	1	222	1	0	0	0	0	0	0	0	1	15414	1136	40	1		1	SV2A	1	149885276	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	30443611	149885276	99365345	8	15172											
FLG	2312	broad.mit.edu	37	1	152283084	152283084	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:152283084G>A	uc001ezu.1	-	2	4314	c.4278C>T	c.(4276-4278)tcC>tcT	p.S1426S	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1426	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GGCCACGTGCGGACTCTTTGT	0.557									Ichthyosis				A	152283084	G	A	152283084	2	1	222	1	0	0	0	0	0	0	0	1	5922	1103	39	2		2	FLG	1	152283084	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	2397808	152283084	96967537	9	15173											
E2F6	1876	broad.mit.edu	37	2	11587770	11587770	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:11587770G>A	uc002rbh.3	-	5	1074	c.782C>T	c.(781-783)cCa>cTa	p.P261L	E2F6_uc002rbg.3_Missense_Mutation_p.P186L|E2F6_uc002rbi.3_Missense_Mutation_p.P186L|E2F6_uc010yjl.2_Non-coding_Transcript|E2F6_uc002rbe.3_Missense_Mutation_p.P186L|E2F6_uc002rbf.3_Missense_Mutation_p.P229L	NM_198256	NP_937987	O75461	E2F6_HUMAN	Homo sapiens E2F transcription factor 6 (E2F6), mRNA.	261	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AGGGCCTTCTGGATGAGTGCT	0.398													A	11587770	G	A	11587770	3	1	222	1	0	0	0	0	1	0	0	0	4871	1348	47	3	71	3	E2F6	2	11587770	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		11587770	231611603	10	15174											
MAP4K3	8491	broad.mit.edu	37	2	39509673	39509673	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:39509673G>A	uc002rro.3	-	21	1701	c.1610C>T	c.(1609-1611)cCt>cTt	p.P537L	MAP4K3_uc002rrp.3_Missense_Mutation_p.P516L|MAP4K3_uc010yns.2_Missense_Mutation_p.P90L	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	537					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.L536I(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGGTGTTGGAGGAAGACCATT	0.323													A	39509673	G	A	39509673	3	1	222	1	0	0	0	0	1	0	0	0	9261	1000	35	3	1126	3	MAP4K3	2	39509673	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	27921903	39509673	203689700	11	15175											
PPM1B	5495	broad.mit.edu	37	2	44428594	44428594	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:44428594A>G	uc002rtt.3	+	1	684	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	PPM1B_uc002rts.3_Missense_Mutation_p.R86G|PPM1B_uc002rtu.3_Missense_Mutation_p.R86G|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.R86G|PPM1B_uc002rtx.3_Missense_Mutation_p.R86G	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	86					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.R86G(2)|p.F85F(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGAAGACTTTAGGGCAGCTGG	0.383													G	44428594	A	G	44428594	3	3	222	1	0	0	0	0	1	0	0	0	12336	411	15	4	258	4	PPM1B	2	44428594	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	4918921	44428594	198770779	12	15176											
POU3F3	5455	broad.mit.edu	37	2	105473303	105473303	+	Silent	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:105473303C>G	uc010ywg.2	+	0	1335	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L		NM_006236	NP_006227	P20264	PO3F3_HUMAN	Homo sapiens POU class 3 homeobox 3 (POU3F3), mRNA.	445					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTGCAGCTCGAGAAGGAGG	0.642													G	105473303	C	G	105473303	2	3	222	1	0	0	0	0	0	0	0	1	12276	871	31	5		5	POU3F3	2	105473303	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	61044709	105473303	137726070	13	15177											
MERTK	10461	broad.mit.edu	37	2	112786347	112786347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:112786347G>A	uc002thk.1	+	18	3028	c.2906G>A	c.(2905-2907)tGg>tAg	p.W969*	MERTK_uc002thl.1_Nonsense_Mutation_p.W793*	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	969					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGGGTCTCCTGGTCCCATTCG	0.527													A	112786347	G	A	112786347	4	1	222	1	0	0	0	0	0	1	0	0	9479	1357	47	3	2980	3	MERTK	2	112786347	Nonsense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	7313044	112786347	130413026	14	15178											
MCM6	4175	broad.mit.edu	37	2	136627932	136627932	+	Splice_Site	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:136627932C>G	uc002tuw.3	-	3	331	c.255_splice	c.e3-1	p.R85_splice		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	85					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AGGGTAAACTCTGAAAAACAA	0.428													G	136627932	C	G	136627932	5	3	222	1	0	0	0	0	0	0	1	0	9391	927	32	5	2271	5	MCM6	2	136627932	Splice_Site	SNP	C	TCGA-32-1977-01A-01D-1353-08	23841585	136627932	106571441	15	15179											
ACVR1C	130399	broad.mit.edu	37	2	158412763	158412763	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:158412763G>A	uc002tzk.4	-	2	629	c.386C>T	c.(385-387)gCg>gTg	p.A129V	ACVR1C_uc002tzl.4_Intron|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_Missense_Mutation_p.A79V	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	129					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	p.A129A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TGTCAGCATCGCAGCTATGGA	0.478													A	158412763	G	A	158412763	3	1	222	1	0	0	0	0	1	0	0	0	222	1087	38	1	1123	1	ACVR1C	2	158412763	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	21784831	158412763	84786610	16	15180											
FAP	2191	broad.mit.edu	37	2	163070563	163070563	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:163070563A>T	uc002ucd.3	-	10	1095	c.887T>A	c.(886-888)cTc>cAc	p.L296H	FAP_uc010zct.2_Missense_Mutation_p.L271H|FAP_uc010fpe.1_Missense_Mutation_p.L263H	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	296					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			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						AACCCACGTGAGCCAACTGAA	0.368													T	163070563	A	T	163070563	3	4	222	1	0	0	0	0	1	0	0	0	5673	304	11	5	1459	5	FAP	2	163070563	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	4657800	163070563	80128810	17	15181											
LRP2	4036	broad.mit.edu	37	2	170115593	170115593	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:170115593G>A	uc002ues.3	-	16	2668	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	LRP2_uc010zdf.1_Missense_Mutation_p.R682C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	819					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R819C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTACTGTGCGTCTCGTTTTA	0.398													A	170115593	G	A	170115593	3	1	222	1	0	0	0	0	1	0	0	0	8956	1145	40	1	11764	1	LRP2	2	170115593	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	7045030	170115593	73083780	18	15182											
COL3A1	1281	broad.mit.edu	37	2	189867049	189867049	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:189867049C>G	uc002uqj.1	+	34	2534	c.2417C>G	c.(2416-2418)cCa>cGa	p.P806R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	806	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			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)	ACTGGCCCTCCAGGACCTGCT	0.438													G	189867049	C	G	189867049	3	3	222	1	0	0	0	0	1	0	0	0	3688	594	21	5	2555	5	COL3A1	2	189867049	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	19751456	189867049	53332324	19	15183											
MARCH4	57574	broad.mit.edu	37	2	217234856	217234856	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:217234856C>T	uc002vgb.3	-	0	1895	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	43						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAGAGCATGCGGCAGCGGCA	0.652													T	217234856	C	T	217234856	3	4	222	1	0	0	0	0	1	0	0	0	9303	768	27	1	1120	1	MARCH4	2	217234856	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	27367807	217234856	25964517	20	15184											
DIS3L2	129563	broad.mit.edu	37	2	233194556	233194556	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:233194556G>C	uc010fxz.3	+	14	2049	c.1773G>C	c.(1771-1773)atG>atC	p.M591I	DIS3L2_uc002vsm.4_Intron|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	591							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGGCCAACATGGCAGTGGCCC	0.657													C	233194556	G	C	233194556	3	2	222	1	0	0	0	0	1	0	0	0	4537	1348	47	5	1827	5	DIS3L2	2	233194556	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	15959700	233194556	10004817	21	15185											
ITIH4	3700	broad.mit.edu	37	3	52857940	52857940	+	Missense_Mutation	SNP	C	C	T	rs141154056	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:52857940C>T	uc011bem.2	-	9	1280	c.1252G>A	c.(1252-1254)Ggt>Agt	p.G418S	ITIH4_uc011bel.2_Missense_Mutation_p.G148S|ITIH4_uc003dfy.3_Missense_Mutation_p.G282S|ITIH4_uc003dfz.3_Missense_Mutation_p.G418S|ITIH4_uc011ben.2_Missense_Mutation_p.G418S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	418	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACGTCGAAACCGAAGCCCAGG	0.612													T	52857940	C	T	52857940	3	4	222	1	0	0	0	0	1	0	0	0	7906	652	23	2	1600	2	ITIH4	3	52857940	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		52857940	145164490	22	15186											
IL17RB	55540	broad.mit.edu	37	3	53891662	53891662	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:53891662C>T	uc003dha.3	+	7	731	c.692C>T	c.(691-693)aCg>aTg	p.T231M		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	231					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AAGAAACAAACGCGAGCTTCA	0.517													T	53891662	C	T	53891662	3	4	222	1	0	0	0	0	1	0	0	0	7640	536	19	1	722	1	IL17RB	3	53891662	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1033722	53891662	144130768	23	15187											
PTPRG	5793	broad.mit.edu	37	3	61975388	61975388	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:61975388C>T	uc003dlb.3	+	2	999	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PTPRG_uc003dlc.3_Missense_Mutation_p.R94C	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	94	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R94C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCAGTATGCGCGTGTTGGGGA	0.488													T	61975388	C	T	61975388	3	4	222	1	0	0	0	0	1	0	0	0	12802	768	27	1	290	1	PTPRG	3	61975388	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	8083726	61975388	136047042	24	15188											
C3orf30	152405	broad.mit.edu	37	3	118865302	118865302	+	Missense_Mutation	SNP	G	G	A	rs138666071		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:118865302G>A	uc003ecb.1	+	0	306	c.266G>A	c.(265-267)cGc>cAc	p.R89H	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R89H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	89								p.G88C(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGGCTGGCCGCAGAGCATCC	0.502													A	118865302	G	A	118865302	3	1	222	1	0	0	0	0	1	0	0	0	2220	1087	38	1	268	1	C3orf30	3	118865302	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	56889914	118865302	79157128	25	15189											
OTOL1	131149	broad.mit.edu	37	3	161221595	161221595	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:161221595G>C	uc011bpb.2	+	3	1299	c.1299G>C	c.(1297-1299)ttG>ttC	p.L433F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	433	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCGTCATCTTGAAATTAAGTG	0.468													C	161221595	G	C	161221595	3	2	222	1	0	0	0	0	1	0	0	0	11304	1281	45	5	1313	5	OTOL1	3	161221595	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	42356293	161221595	36800835	26	15190											
TP63	8626	broad.mit.edu	37	3	189604307	189604307	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:189604307C>T	uc003fry.2	+	10	1563	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	TP63_uc003frz.2_Missense_Mutation_p.P492S|TP63_uc010hzc.1_Missense_Mutation_p.P492S|TP63_uc003fsc.2_Missense_Mutation_p.P398S|TP63_uc003fsd.2_Missense_Mutation_p.P398S|TP63_uc021xir.1_Missense_Mutation_p.P398S|TP63_uc010hzd.1_Missense_Mutation_p.P313S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	492					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCCCTCACTCCTACAACCAT	0.498										HNSCC(45;0.13)			T	189604307	C	T	189604307	3	4	222	1	0	0	0	0	1	0	0	0	16389	855	30	3	1681	3	TP63	3	189604307	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	28382712	189604307	8418123	27	15191											
FGFRL1	53834	broad.mit.edu	37	4	1019042	1019042	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:1019042C>T	uc003gce.3	+	6	1583	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	FGFRL1_uc003gcf.3_Silent_p.L474L|FGFRL1_uc003gcg.3_Silent_p.L474L|FGFRL1_uc010ibo.3_Silent_p.L474L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	474					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACCCCAAACTCTacacagaca	0.597													T	1019042	C	T	1019042	2	4	222	1	0	0	0	0	0	0	0	1	5869	900	32	3		3	FGFRL1	4	1019042	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		1019042	190135234	28	15192											
PCDH7	5099	broad.mit.edu	37	4	30725505	30725505	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:30725505delG	uc003gsk.1	+	0	3469	c.2461delG	c.(2461-2463)gtgfs	p.V821fs	PCDH7_uc011bxx.2_Frame_Shift_Del_p.V821fs|PCDH7_uc021xnd.1_Frame_Shift_Del_p.V821fs|PCDH7_uc021xnc.1_Frame_Shift_Del_p.V821fs	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	821	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGTGGTGCAAGTGAATGACAG	0.483													-	30725505	G	-	30725505	7	5	222	1	0	1	0	1	0	0	0	0	11516	1029	36	0	2463	0	PCDH7	4	30725505	Frame_Shift_Del	DEL	G	TCGA-32-1977-01A-01D-1353-08	29706463	30725505	160428771	29	15193											
CNGA1	1259	broad.mit.edu	37	4	47945299	47945299	+	Silent	SNP	T	T	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:47945299T>A	uc003gxu.3	-	6	696	c.555A>T	c.(553-555)tcA>tcT	p.S185S	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Silent_p.S116S|CNGA1_uc003gxv.1_Silent_p.S116S	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	116					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTTTATCATCTGACTTGCTGA	0.318													A	47945299	T	A	47945299	2	1	222	1	0	0	0	0	0	0	0	1	3596	1567	55	5		5	CNGA1	4	47945299	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08	17219794	47945299	143208977	30	15194											
UGT2B28	54490	broad.mit.edu	37	4	70160416	70160416	+	Silent	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:70160416G>T	uc003hej.3	+	5	1481	c.1479G>T	c.(1477-1479)gtG>gtT	p.V493V	UGT2B28_uc010ihr.3_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	493					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTTTGGATGTGATTGGGTTTC	0.463													T	70160416	G	T	70160416	2	4	222	1	0	0	0	0	0	0	0	1	16957	1277	45	5		5	UGT2B28	4	70160416	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	22215117	70160416	120993860	31	15195											
NAAA	27163	broad.mit.edu	37	4	76836138	76836138	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:76836138G>A	uc003hjb.3	-	10	1063	c.999_splice	c.e10-1	p.N333_splice	NAAA_uc003hja.3_Intron	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	333					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAATTGTGAAGCTGAAAATTA	0.408													A	76836138	G	A	76836138	2	1	222	1	0	0	0	0	0	0	0	1	10127	985	34	3		3	NAAA	4	76836138	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	6675722	76836138	114318138	32	15196											
SHROOM3	57619	broad.mit.edu	37	4	77661454	77661454	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:77661454C>A	uc011cbx.2	+	4	3081	c.2128C>A	c.(2128-2130)Cct>Act	p.P710T	SHROOM3_uc011cbz.1_Missense_Mutation_p.P534T|SHROOM3_uc003hkf.1_Missense_Mutation_p.P585T|SHROOM3_uc003hkg.3_Missense_Mutation_p.P488T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	710					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			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)			GAAAGCCGCTCCTGACCTCGG	0.667													A	77661454	C	A	77661454	3	1	222	1	0	0	0	0	1	0	0	0	14295	855	30	5	2146	5	SHROOM3	4	77661454	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	825316	77661454	113492822	33	15197											
SEC24B	10427	broad.mit.edu	37	4	110437770	110437770	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:110437770C>A	uc003hzk.3	+	10	2155	c.2100C>A	c.(2098-2100)tgC>tgA	p.C700*	SEC24B_uc003hzl.3_Nonsense_Mutation_p.C665*|SEC24B_uc011cfp.2_Nonsense_Mutation_p.C730*|SEC24B_uc011cfq.2_Nonsense_Mutation_p.C699*|SEC24B_uc011cfr.2_Nonsense_Mutation_p.C664*	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	700					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAATTTTGTGCCAGTCACTCC	0.318													A	110437770	C	A	110437770	4	1	222	1	0	0	0	0	0	1	0	0	13995	747	26	5	2142	5	SEC24B	4	110437770	Nonsense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	32776316	110437770	80716506	34	15198											
LYSMD3	116068	broad.mit.edu	37	5	89821101	89821101	+	Silent	SNP	T	T	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:89821101T>C	uc003kjr.3	-	1	154	c.6A>G	c.(4-6)gcA>gcG	p.A2A	LYSMD3_uc010jaz.2_Silent_p.A2A|LYSMD3_uc003kjs.1_Silent_p.A2A	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	2					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GATGCCTCCCTGCCATAATGT	0.403													C	89821101	T	C	89821101	2	2	222	1	0	0	0	0	0	0	0	1	9126	1567	55	4		4	LYSMD3	5	89821101	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08		89821101	91094159	35	15199											
SLC27A6	28965	broad.mit.edu	37	5	128359401	128359401	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:128359401A>G	uc003kuy.3	+	6	1649	c.1253A>G	c.(1252-1254)aAa>aGa	p.K418R	SLC27A6_uc003kuz.3_Missense_Mutation_p.K418R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	418					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CATGTGAAAAAAGGTAAGACT	0.398													G	128359401	A	G	128359401	3	3	222	1	0	0	0	0	1	0	0	0	14530	14	1	4	1275	4	SLC27A6	5	128359401	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	38538300	128359401	52555859	36	15200											
DOCK2	1794	broad.mit.edu	37	5	169097547	169097547	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:169097547G>A	uc003maf.3	+	4	249	c.169_splice	c.e4-1	p.G57_splice	DOCK2_uc011der.2_Splice_Site	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	57	SH3.				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			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)			ttCCAACAGGGCATTTTTCCT	0.348													A	169097547	G	A	169097547	3	1	222	1	0	0	0	0	1	0	0	0	4687	1217	42	3	184	3	DOCK2	5	169097547	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	40738146	169097547	11817713	37	15201											
GFOD1	85411	broad.mit.edu	37	6	13470477	13470477	+	Silent	SNP	C	C	T	rs150464914		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:13470477C>T	uc003nat.2	-						GFOD1_uc003nas.2_Intron|GFOD1_uc003nau.3_Non-coding_Transcript|GFOD1_uc003nav.3_Non-coding_Transcript|GFOD1_uc021ylu.1_3'UTR	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.							extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGGCAATTGCCGGCTCATGAA	0.572													T	13470477	C	T	13470477	2	4	222	1	0	0	0	0	0	0	0	1	6343	639	23	2		2	GFOD1	6	13470477	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		13470477	157644590	38	15202											
PHF1	5252	broad.mit.edu	37	6	33382871	33382871	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:33382871delC	uc003oeh.3	+	11	1425	c.1189delC	c.(1189-1191)cccfs	p.P397fs	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Frame_Shift_Del_p.A393fs|PHF1_uc010jux.3_Frame_Shift_Del_p.P197fs	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	397					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCGCAATCAGCCCGAGCCCCA	0.677											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	33382871	C	-	33382871	7	5	222	1	0	1	0	1	0	0	0	0	11820	739	26	0	1231	0	PHF1	6	33382871	Frame_Shift_Del	DEL	C	TCGA-32-1977-01A-01D-1353-08	19912394	33382871	137732196	39	15203											
ZNF76	7629	broad.mit.edu	37	6	35261624	35261624	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:35261624G>A	uc003oki.1	+	11	1631	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	ZNF76_uc003okj.1_Intron	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	476					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGTCCTGATGCCGACCTGGC	0.627													A	35261624	G	A	35261624	3	1	222	1	0	0	0	0	1	0	0	0	18132	1319	46	3	1468	3	ZNF76	6	35261624	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	1878753	35261624	135853443	40	15204											
DNAH8	1769	broad.mit.edu	37	6	38998047	38998047	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:38998047C>G	uc021yzh.1	+	92	14112	c.14003C>G	c.(14002-14004)cCt>cGt	p.P4668R	DNAH8_uc003ooe.2_Missense_Mutation_p.P4451R	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						TATGTGTGTCCTATTTACAAG	0.507													G	38998047	C	G	38998047	3	3	222	1	0	0	0	0	1	0	0	0	4607	681	24	5	13706	5	DNAH8	6	38998047	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	3736423	38998047	132117020	41	15205											
COL10A1	1300	broad.mit.edu	37	6	116442546	116442546	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:116442546G>T	uc003pwm.3	-	2	829	c.733C>A	c.(733-735)Cca>Aca	p.P245T	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	245	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGGCCAATTGGTCCCATTTCT	0.597													T	116442546	G	T	116442546	3	4	222	1	0	0	0	0	1	0	0	0	3666	1261	44	5	1313	5	COL10A1	6	116442546	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	77444499	116442546	54672521	42	15206											
CRHR2	1395	broad.mit.edu	37	7	30695576	30695576	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:30695576C>T	uc003tbn.3	-	8	1129	c.884G>A	c.(883-885)cGc>cAc	p.R295H	CRHR2_uc010kvw.2_Missense_Mutation_p.R295H|CRHR2_uc010kvx.2_Missense_Mutation_p.R294H|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.R131H|CRHR2_uc003tbo.3_Missense_Mutation_p.R281H|CRHR2_uc003tbp.3_Missense_Mutation_p.R322H	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	295					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTGGACGCGCGTAACTTTGT	0.552													T	30695576	C	T	30695576	3	4	222	1	0	0	0	0	1	0	0	0	3872	768	27	1	367	1	CRHR2	7	30695576	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		30695576	128443087	43	15207											
GTF2IRD1	9569	broad.mit.edu	37	7	74004217	74004217	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:74004217C>T	uc003uaq.3	+	22	2796	c.2403C>T	c.(2401-2403)atC>atT	p.I801I	GTF2IRD1_uc010lbq.3_Silent_p.I818I|GTF2IRD1_uc003uap.3_Silent_p.I786I|GTF2IRD1_uc003uar.1_Silent_p.I786I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	801						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAAGGTGATCCTGCGGGAGC	0.592													T	74004217	C	T	74004217	2	4	222	1	0	0	0	0	0	0	0	1	6868	845	30	3		3	GTF2IRD1	7	74004217	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	43308641	74004217	85134446	44	15208											
CTTNBP2	83992	broad.mit.edu	37	7	117400762	117400762	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:117400762C>A	uc003vjf.3	-	9	2991	c.2899G>T	c.(2899-2901)Gct>Tct	p.A967S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	967										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATTTTAAGAGCATCTGTTAGA	0.284													A	117400762	C	A	117400762	3	1	222	1	0	0	0	0	1	0	0	0	4045	710	25	5	2148	5	CTTNBP2	7	117400762	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	43396545	117400762	41737901	45	15209											
FLNC	2318	broad.mit.edu	37	7	128489530	128489530	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:128489530C>G	uc003vnz.4	+	29	5306	c.5097C>G	c.(5095-5097)gaC>gaG	p.D1699E	FLNC_uc003voa.4_Missense_Mutation_p.D1699E	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1699					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			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						AGAACCATGACGGTACCTTTG	0.612													G	128489530	C	G	128489530	3	3	222	1	0	0	0	0	1	0	0	0	5935	535	19	5	5215	5	FLNC	7	128489530	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	11088768	128489530	30649133	46	15210											
MEST	4232	broad.mit.edu	37	7	130140656	130140656	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:130140656C>G	uc003vqg.3	+	8	930	c.674C>G	c.(673-675)aCt>aGt	p.T225S	MEST_uc003vqc.3_Missense_Mutation_p.T216S|MEST_uc003vqd.3_Intron|MEST_uc022alp.1_Intron|MEST_uc003vqf.3_Missense_Mutation_p.T216S|MEST_uc011kph.2_Missense_Mutation_p.T211S	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	225					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GGGCCGTATACTCGGCCCTCT	0.498													G	130140656	C	G	130140656	3	3	222	1	0	0	0	0	1	0	0	0	9484	565	20	5	708	5	MEST	7	130140656	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1651126	130140656	28998007	47	15211											
BPGM	669	broad.mit.edu	37	7	134346605	134346605	+	Nonsense_Mutation	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:134346605A>T	uc003vrv.3	+	2	887	c.346A>T	c.(346-348)Aga>Tga	p.R116*	BPGM_uc003vrw.3_Nonsense_Mutation_p.R116*	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	116					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						GAGGCTCTGGAGAAGAAGCTA	0.493													T	134346605	A	T	134346605	4	4	222	1	0	0	0	0	0	1	0	0	1488	296	11	5	348	5	BPGM	7	134346605	Nonsense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	4205949	134346605	24792058	48	15212											
CNTNAP2	26047	broad.mit.edu	37	7	147336290	147336290	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:147336290G>A	uc003weu.2	+	12	2506	c.1990G>A	c.(1990-1992)Gtt>Att	p.V664I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	664	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACACAGCTCGTTTACAGCGC	0.498										HNSCC(39;0.1)			A	147336290	G	A	147336290	3	1	222	1	0	0	0	0	1	0	0	0	3647	1145	40	1	2040	1	CNTNAP2	7	147336290	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	12989685	147336290	11802373	49	15213											
DPYSL2	1808	broad.mit.edu	37	8	26510765	26510765	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:26510765G>A	uc003xfb.2	+	12	1910	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	DPYSL2_uc003xfa.3_Silent_p.G598G|DPYSL2_uc011lah.2_Silent_p.G457G	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	493					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGCTGAGAGGGGTTCCTCGTG	0.602													A	26510765	G	A	26510765	2	1	222	1	0	0	0	0	0	0	0	1	4747	1219	43	3		3	DPYSL2	8	26510765	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08		26510765	119853257	50	15214											
FBXL6	26233	broad.mit.edu	37	8	145579316	145579316	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:145579316C>G	uc003zcb.3	-	8	1571	c.1495G>C	c.(1495-1497)Ggc>Cgc	p.G499R	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Missense_Mutation_p.G226R|FBXL6_uc003zca.3_Missense_Mutation_p.G493R|FBXL6_uc010mfx.3_Missense_Mutation_p.G260R|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	499					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TAGAGCAGGCCCGGGCAGCTG	0.657													G	145579316	C	G	145579316	3	3	222	1	0	0	0	0	1	0	0	0	5723	623	22	5	128	5	FBXL6	8	145579316	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	119068551	145579316	784706	51	15215											
IFT74	80173	broad.mit.edu	37	9	26984346	26984346	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:26984346G>C	uc010mja.3	+	4	524	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	IFT74_uc010mjb.3_Missense_Mutation_p.E133Q|IFT74_uc003zqf.4_Missense_Mutation_p.E133Q|IFT74_uc003zqg.4_Missense_Mutation_p.E133Q	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	133						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTTGTCATATGAAAAGAGGTG	0.264													C	26984346	G	C	26984346	3	2	222	1	0	0	0	0	1	0	0	0	7563	1291	45	5	411	5	IFT74	9	26984346	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		26984346	114229085	52	15216											
GAPVD1	26130	broad.mit.edu	37	9	128069702	128069702	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:128069702C>A	uc004bpp.3	+	4	1287	c.1127C>A	c.(1126-1128)gCc>gAc	p.A376D	GAPVD1_uc004bpo.3_Missense_Mutation_p.A376D|GAPVD1_uc011lzs.1_Missense_Mutation_p.A376D|GAPVD1_uc004bpq.3_Missense_Mutation_p.A376D|GAPVD1_uc010mwx.3_Missense_Mutation_p.A376D|GAPVD1_uc004bpr.3_Missense_Mutation_p.A376D|GAPVD1_uc004bps.3_Missense_Mutation_p.A376D|GAPVD1_uc010mwy.1_Missense_Mutation_p.A235D	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	376					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCTGTGTTGCCGCTTTCCTT	0.408													A	128069702	C	A	128069702	3	1	222	1	0	0	0	0	1	0	0	0	6239	739	26	5	1141	5	GAPVD1	9	128069702	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	101085356	128069702	13143729	53	15217											
SLC2A6	11182	broad.mit.edu	37	9	136338317	136338317	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:136338317G>A	uc004cee.3	-	8	1373	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SLC2A6_uc004cef.3_Silent_p.P364P|SLC2A6_uc004ceg.3_Silent_p.P403P	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	426						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGGCACGCAGGGGCAGGACCT	0.672													A	136338317	G	A	136338317	2	1	222	1	0	0	0	0	0	0	0	1	14549	1219	43	3		3	SLC2A6	9	136338317	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	8268615	136338317	4875114	54	15218											
SLC18A3	6572	broad.mit.edu	37	10	50820049	50820049	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:50820049C>T	uc001jhw.3	+	0	1703	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	421					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.V420I(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCAGCGTCTACGCCATCGCCG	0.622													T	50820049	C	T	50820049	2	4	222	1	0	0	0	0	0	0	0	1	14427	547	19	1		1	SLC18A3	10	50820049	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		50820049	84714698	55	15219											
TMEM26	219623	broad.mit.edu	37	10	63212688	63212688	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:63212688G>A	uc001jlo.2	-	0	521	c.152C>T	c.(151-153)gCg>gTg	p.A51V	TMEM26_uc001jlq.3_Non-coding_Transcript|BC041470_uc001jlr.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	51						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGGGTGAGCGCAGTCTCCAG	0.642													A	63212688	G	A	63212688	3	1	222	1	0	0	0	0	1	0	0	0	16148	1087	38	1	978	1	TMEM26	10	63212688	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	12392639	63212688	72322059	56	15220											
ZNF365	22891	broad.mit.edu	37	10	64159484	64159484	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:64159484G>A	uc001jmc.2	+						ZNF365_uc001jly.4_Missense_Mutation_p.R402H|ZNF365_uc001jmb.4_Intron|ZNF365_uc001jlz.4_Missense_Mutation_p.R387H|ZNF365_uc001jma.4_Non-coding_Transcript	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.											breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGTTTGGCCGCAAAGGCAAC	0.537													A	64159484	G	A	64159484	3	1	222	1	0	0	0	0	1	0	0	0	17866	1087	38	1	1174	1	ZNF365	10	64159484	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	946796	64159484	71375263	57	15221											
VCL	7414	broad.mit.edu	37	10	75849002	75849002	+	Silent	SNP	T	T	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:75849002T>C	uc001jwd.3	+	8	1165	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	VCL_uc009xrr.3_Silent_p.S106S|VCL_uc010qky.1_Silent_p.S264S|VCL_uc001jwe.3_Silent_p.S357S|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	357	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGCAGGTATCTCAGGGTCTGG	0.488													C	75849002	T	C	75849002	2	2	222	1	0	0	0	0	0	0	0	1	17136	1538	54	4		4	VCL	10	75849002	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08	11689518	75849002	59685745	58	15222											
PTEN	5728	broad.mit.edu	37	10	89653808	89653808	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:89653808G>A	uc001kfb.3	+	1	1138	c.106G>A	c.(106-108)Gga>Aga	p.G36R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	36	Phosphatase tensin-type.		G -> E (in glioma).|G -> R (in endometrial hyperplasia).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.G36R(8)|p.G36E(4)|p.G36*(2)|p.A34_G36del(2)|p.Y27fs*1(2)|p.M35V(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.M35R(1)|p.G36fs*18(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTGCTATGGGATTTCCTGC	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89653808	G	A	89653808	3	1	222	1	0	0	0	0	1	0	0	0	12738	1233	43	3	112	3	PTEN	10	89653808	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	13804806	89653808	45880939	59	15223											
TNKS2	80351	broad.mit.edu	37	10	93619322	93619322	+	Silent	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:93619322C>A	uc001khp.3	+	24	3495	c.3198C>A	c.(3196-3198)tcC>tcA	p.S1066S		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	1066	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.S1066F(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAAACTCTTCCAAAAGCAATC	0.398													A	93619322	C	A	93619322	2	1	222	1	0	0	0	0	0	0	0	1	16318	581	21	5		5	TNKS2	10	93619322	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	3965514	93619322	41915425	60	15224											
HPSE2	60495	broad.mit.edu	37	10	100374687	100374687	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:100374687C>T	uc001kpn.2	-	8	1367	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	HPSE2_uc009xwc.2_Missense_Mutation_p.V432M|HPSE2_uc001kpo.2_Missense_Mutation_p.V374M|HPSE2_uc009xwd.2_Missense_Mutation_p.V320M	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	432					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTCTGGTCCACGAGGTGATTG	0.418													T	100374687	C	T	100374687	3	4	222	1	0	0	0	0	1	0	0	0	7345	536	19	1	538	1	HPSE2	10	100374687	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	6755365	100374687	35160060	61	15225											
DNMBP	23268	broad.mit.edu	37	10	101716779	101716779	+	Missense_Mutation	SNP	C	C	T	rs138795130		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:101716779C>T	uc001kqj.2	-	3	544	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	151	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CATTAGGGCCCGGGCTTGTCC	0.557													T	101716779	C	T	101716779	3	4	222	1	0	0	0	0	1	0	0	0	4674	652	23	2	4337	2	DNMBP	10	101716779	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1342092	101716779	33817968	62	15226											
OR51F2	119694	broad.mit.edu	37	11	4842972	4842972	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:4842972C>T	uc010qyn.2	+	0	357	c.357C>T	c.(355-357)caC>caT	p.H119H		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468													T	4842972	C	T	4842972	2	4	222	1	0	0	0	0	0	0	0	1	11097	535	19	1		1	OR51F2	11	4842972	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		4842972	130163544	63	15227											
UEVLD	55293	broad.mit.edu	37	11	18587922	18587922	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:18587922C>G	uc001mot.3	-	4	545	c.465G>C	c.(463-465)ttG>ttC	p.L155F	UEVLD_uc001mou.3_Missense_Mutation_p.L155F|UEVLD_uc010rde.2_Missense_Mutation_p.L25F|UEVLD_uc010rdf.2_Missense_Mutation_p.L133F|UEVLD_uc010rdg.2_Missense_Mutation_p.L25F|UEVLD_uc001mov.3_Missense_Mutation_p.L133F|UEVLD_uc010rdh.2_Missense_Mutation_p.L155F	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	155					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATAGGCTAGCAAGTCTACCT	0.368													G	18587922	C	G	18587922	3	3	222	1	0	0	0	0	1	0	0	0	16930	709	25	5	982	5	UEVLD	11	18587922	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	13744950	18587922	116418594	64	15228											
OR10AG1	282770	broad.mit.edu	37	11	55735344	55735344	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:55735344G>A	uc010rit.2	-	0	596	c.596C>T	c.(595-597)aCg>aTg	p.T199M		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATGGCACCGTGATAAACAC	0.408													A	55735344	G	A	55735344	3	1	222	1	0	0	0	0	1	0	0	0	10897	1145	40	1	312	1	OR10AG1	11	55735344	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	37147422	55735344	79271172	65	15229											
OR10AG1	282770	broad.mit.edu	37	11	55735807	55735807	+	Missense_Mutation	SNP	C	C	T	rs139897319	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:55735807C>T	uc010rit.2	-	0	133	c.133G>A	c.(133-135)Gct>Act	p.A45T		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTCTGGAGAGCGGGGTGAATT	0.348													T	55735807	C	T	55735807	3	4	222	1	0	0	0	0	1	0	0	0	10897	768	27	1	775	1	OR10AG1	11	55735807	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	463	55735807	79270709	66	15230											
SLC22A10	387775	broad.mit.edu	37	11	63071595	63071595	+	Missense_Mutation	SNP	G	G	A	rs112720090		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:63071595G>A	uc009yor.3	+	7	1509	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	434						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGACCCTGCGTGTGGCTTTG	0.453													A	63071595	G	A	63071595	3	1	222	1	0	0	0	0	1	0	0	0	14441	1145	40	1	1331	1	SLC22A10	11	63071595	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	7335788	63071595	71934921	67	15231											
NAALADL1	10004	broad.mit.edu	37	11	64820765	64820765	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:64820765C>T	uc001ocn.3	-	7	1139	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	375	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCCACAGCCCCGTGCACCCAG	0.672													T	64820765	C	T	64820765	3	4	222	1	0	0	0	0	1	0	0	0	10129	652	23	2	1143	2	NAALADL1	11	64820765	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1749170	64820765	70185751	68	15232											
PCNXL3	399909	broad.mit.edu	37	11	65402835	65402835	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:65402835G>A	uc001oey.2	+	30	5100	c.5100G>A	c.(5098-5100)gcG>gcA	p.A1700A	PCNXL3_uc001oez.2_Silent_p.A587A|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1700						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCTGCTGGCGCTGCGCCATG	0.632													A	65402835	G	A	65402835	2	1	222	1	0	0	0	0	0	0	0	1	11593	1074	38	1		1	PCNXL3	11	65402835	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	582070	65402835	69603681	69	15233											
GDF3	9573	broad.mit.edu	37	12	7842931	7842931	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:7842931C>T	uc001qte.3	-	1	674	c.638G>A	c.(637-639)gGg>gAg	p.G213E		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	213			G -> R (in dbSNP:rs12819884).		eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.G213R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAAATTCACCCCTGAGTCTCT	0.493													T	7842931	C	T	7842931	3	4	222	1	0	0	0	0	1	0	0	0	6315	623	22	3	460	3	GDF3	12	7842931	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		7842931	126008964	70	15234											
NELL2	4753	broad.mit.edu	37	12	45173691	45173691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:45173691C>T	uc010skz.1	-	4	725	c.600G>A	c.(598-600)tgG>tgA	p.W200*	NELL2_uc001rof.3_Nonsense_Mutation_p.W149*|NELL2_uc001rog.2_Nonsense_Mutation_p.W150*|NELL2_uc001roh.2_Nonsense_Mutation_p.W150*|NELL2_uc009zkd.2_Nonsense_Mutation_p.W149*|NELL2_uc010sla.1_Nonsense_Mutation_p.W173*|NELL2_uc001roi.1_Nonsense_Mutation_p.W150*|NELL2_uc010slb.1_Nonsense_Mutation_p.W149*|NELL2_uc001roj.2_Nonsense_Mutation_p.W150*	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	150	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AGAGCTTGTGCCACTTGTCAT	0.438													T	45173691	C	T	45173691	4	4	222	1	0	0	0	0	0	1	0	0	10334	740	26	3	2068	3	NELL2	12	45173691	Nonsense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	37330760	45173691	88678204	71	15235											
ARID2	196528	broad.mit.edu	37	12	46245949	46245949	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:46245949A>T	uc001ros.1	+	14	4043	c.4043A>T	c.(4042-4044)gAt>gTt	p.D1348V	ARID2_uc001ror.3_Missense_Mutation_p.D1348V|ARID2_uc009zkg.1_Missense_Mutation_p.D804V|ARID2_uc009zkh.1_Missense_Mutation_p.D975V|ARID2_uc001rou.1_Missense_Mutation_p.D682V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1348					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GACATGCAAGATATCAAAAGT	0.358			"N, S, F"		hepatocellular carcinoma								T	46245949	A	T	46245949	3	4	222	1	0	0	0	0	1	0	0	0	915	333	12	5	4101	5	ARID2	12	46245949	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	1072258	46245949	87605946	72	15236											
KRT78	196374	broad.mit.edu	37	12	53242331	53242331	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:53242331C>T	uc001sbc.1	-	1	448	c.384_splice	c.e1+1	p.K128_splice		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	128	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGACCCTCACCTTGTCAATGA	0.537													T	53242331	C	T	53242331	2	4	222	1	0	0	0	0	0	0	0	1	8491	695	24	3		3	KRT78	12	53242331	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	6996382	53242331	80609564	73	15237											
SLC24A6	80024	broad.mit.edu	37	12	113770568	113770568	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:113770568T>A	uc001tvc.3	-	1	326	c.116A>T	c.(115-117)cAg>cTg	p.Q39L	SLC24A6_uc001tvd.1_Missense_Mutation_p.Q39L	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	39					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AGCTGGAAACTGGGGGCTAAT	0.557													A	113770568	T	A	113770568	3	1	222	1	0	0	0	0	1	0	0	0	14470	1580	55	5	1698	5	SLC24A6	12	113770568	Missense_Mutation	SNP	T	TCGA-32-1977-01A-01D-1353-08	60528237	113770568	20081327	74	15238											
TBX5	6910	broad.mit.edu	37	12	114832695	114832695	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:114832695T>A	uc001tvo.3	-	5	1009	c.514A>T	c.(514-516)Att>Ttt	p.I172F	TBX5_uc001tvp.3_Missense_Mutation_p.I172F|TBX5_uc001tvq.3_Missense_Mutation_p.I122F|TBX5_uc010syv.2_Missense_Mutation_p.I172F	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	172					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAATTTAGAATAATCTAAAAA	0.368													A	114832695	T	A	114832695	3	1	222	1	0	0	0	0	1	0	0	0	15658	1406	49	5	1125	5	TBX5	12	114832695	Missense_Mutation	SNP	T	TCGA-32-1977-01A-01D-1353-08	1062127	114832695	19019200	75	15239											
TAOK3	51347	broad.mit.edu	37	12	118639103	118639103	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:118639103delC	uc001twx.3	-	11	1280	c.985delG	c.(985-987)gaafs	p.E329fs	TAOK3_uc001tww.3_Frame_Shift_Del_p.E159fs|TAOK3_uc001twy.4_Frame_Shift_Del_p.E329fs	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	329					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACCTACTTCCTCATCCTCC	0.368													-	118639103	C	-	118639103	7	5	222	1	0	1	0	1	0	0	0	0	15546	864	30	0	1751	0	TAOK3	12	118639103	Frame_Shift_Del	DEL	C	TCGA-32-1977-01A-01D-1353-08	3806408	118639103	15212792	76	15240											
UCHL3	7347	broad.mit.edu	37	13	76134909	76134909	+	Silent	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr13:76134909A>T	uc001vjq.3	+	2	105	c.75A>T	c.(73-75)ctA>ctT	p.L25L		NM_006002	NP_005993	P15374	UCHL3_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA.	25					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AATTAGGTCTACATCCTAACT	0.333													T	76134909	A	T	76134909	2	4	222	1	0	0	0	0	0	0	0	1	16918	378	14	5		5	UCHL3	13	76134909	Silent	SNP	A	TCGA-32-1977-01A-01D-1353-08		76134909	39034969	77	15241											
POTEG	404785	broad.mit.edu	37	14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:19553823G>A	uc001vuz.1	+	0	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	136								p.R136H(2)|p.V135I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577													A	19553823	G	A	19553823	3	1	222	1	0	0	0	0	1	0	0	0	12266	1145	40	1	409	1	POTEG	14	19553823	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		19553823	87795717	78	15242											
OXA1L	5018	broad.mit.edu	37	14	23239044	23239044	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:23239044G>A	uc001wgn.2	+	3	664	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	OXA1L_uc001wgp.2_Missense_Mutation_p.G146S	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	162					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CATCGTGACGGGCCAGCGAGA	0.488													A	23239044	G	A	23239044	3	1	222	1	0	0	0	0	1	0	0	0	11328	1232	43	3	678	3	OXA1L	14	23239044	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	3685221	23239044	84110496	79	15243											
PCK2	5106	broad.mit.edu	37	14	24567814	24567814	+	Silent	SNP	T	T	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:24567814T>C	uc001wlt.3	+	3	723	c.591T>C	c.(589-591)ccT>ccC	p.P197P	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Silent_p.P197P|PCK2_uc010tnw.2_Silent_p.P63P|PCK2_uc010ald.2_Silent_p.P49P|PCK2_uc010ale.2_Silent_p.P63P|PCK2_uc010tnx.2_Silent_p.P63P|PCK2_uc001wlu.4_Silent_p.P63P	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	197					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGGGGACACCTGTGCTTCAGG	0.617													C	24567814	T	C	24567814	2	2	222	1	0	0	0	0	0	0	0	1	11582	1567	55	4		4	PCK2	14	24567814	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08	1328770	24567814	82781726	80	15244											
FOXG1	2290	broad.mit.edu	37	14	29237322	29237322	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:29237322C>T	uc001wqe.3	+	0	1036	c.837C>T	c.(835-837)acC>acT	p.T279T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	279					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.T279N(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)		GCTCCACCACCTCGCGGGCCA	0.701													T	29237322	C	T	29237322	2	4	222	1	0	0	0	0	0	0	0	1	6007	668	24	3		3	FOXG1	14	29237322	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	4669508	29237322	78112218	81	15245											
TDRD9	122402	broad.mit.edu	37	14	104488645	104488645	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:104488645G>A	uc001yom.4	+	23	2614	c.2584G>A	c.(2584-2586)Gtc>Atc	p.V862I	TDRD9_uc001yon.4_Missense_Mutation_p.V600I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	862					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGGCATGAACGTCTCAAAGCT	0.448													A	104488645	G	A	104488645	3	1	222	1	0	0	0	0	1	0	0	0	15733	1145	40	1	2678	1	TDRD9	14	104488645	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	75251323	104488645	2860895	82	15246											
PLD4	122618	broad.mit.edu	37	14	105397140	105397140	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:105397140C>T	uc010tyl.1	+	6	958	c.800C>T	c.(799-801)aCc>aTc	p.T267I	PLD4_uc001ypu.1_Missense_Mutation_p.T260I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	260					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			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)	CTGGAGAAGACCTTCCAGACC	0.572													T	105397140	C	T	105397140	3	4	222	1	0	0	0	0	1	0	0	0	12048	507	18	3	801	3	PLD4	14	105397140	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	908495	105397140	1952400	83	15247											
GPR132	29933	broad.mit.edu	37	14	105518239	105518239	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:105518239C>T	uc001yqd.3	-	3	1134	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.V70I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	79					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGCAGGTAGACGGCCAGCACG	0.657													T	105518239	C	T	105518239	3	4	222	1	0	0	0	0	1	0	0	0	6642	536	19	1	911	1	GPR132	14	105518239	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	121099	105518239	1831301	84	15248											
PLA2G4F	255189	broad.mit.edu	37	15	42442026	42442026	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:42442026C>T	uc001zoz.3	-	10	1036	c.944G>A	c.(943-945)cGc>cAc	p.R315H	PLA2G4F_uc001zoy.3_5'Flank|PLA2G4F_uc001zpa.3_Missense_Mutation_p.R66H|PLA2G4F_uc010bcr.3_Missense_Mutation_p.R66H|PLA2G4F_uc010bcs.3_Missense_Mutation_p.R102H	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	315	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAAGCCAAGGCGTAGGTCTAG	0.632													T	42442026	C	T	42442026	3	4	222	1	0	0	0	0	1	0	0	0	12006	768	27	1	1645	1	PLA2G4F	15	42442026	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		42442026	60089366	85	15249											
TLN2	83660	broad.mit.edu	37	15	63055766	63055766	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:63055766A>C	uc002alb.4	+	36	4966	c.4966A>C	c.(4966-4968)Aag>Cag	p.K1656Q	TLN2_uc002alc.4_Missense_Mutation_p.K49Q|TLN2_uc002ald.3_Missense_Mutation_p.K49Q	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1656					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTCCAGGGACAAGGCCCCTGG	0.617													C	63055766	A	C	63055766	3	2	222	1	0	0	0	0	1	0	0	0	15945	131	5	5	5112	5	TLN2	15	63055766	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	20613740	63055766	39475626	86	15250											
C15orf39	56905	broad.mit.edu	37	15	75503308	75503308	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:75503308G>A	uc002azp.4	+	2	3315	c.2995G>A	c.(2995-2997)Ggc>Agc	p.G999S	C15orf39_uc002azq.4_Missense_Mutation_p.G999S|C15orf39_uc002azr.4_3'UTR	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	999										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGCCCACCTGGCCCCACACT	0.662													A	75503308	G	A	75503308	3	1	222	1	0	0	0	0	1	0	0	0	1793	1348	47	3	3001	3	C15orf39	15	75503308	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	12447542	75503308	27028084	87	15251											
C15orf27	123591	broad.mit.edu	37	15	76496348	76496348	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:76496348C>T	uc002bbq.3	+	10	1443	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S	C15orf27_uc010bkp.3_Missense_Mutation_p.P246S|C15orf27_uc002bbr.3_Missense_Mutation_p.P246S|C15orf27_uc002bbs.3_Missense_Mutation_p.P108S	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	430						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCGCCGCTGCCATCCCAGCA	0.701													T	76496348	C	T	76496348	3	4	222	1	0	0	0	0	1	0	0	0	1788	739	26	3	1326	3	C15orf27	15	76496348	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	993040	76496348	26035044	88	15252											
DECR2	26063	broad.mit.edu	37	16	460737	460737	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:460737G>A	uc002chb.3	+	5	615	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	DECR2_uc002chc.3_Missense_Mutation_p.R86Q|DECR2_uc002chd.3_Missense_Mutation_p.R86Q|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	170						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CTGGGGAACCGGGGGCAGGCG	0.701													A	460737	G	A	460737	3	1	222	1	0	0	0	0	1	0	0	0	4383	1116	39	2	531	2	DECR2	16	460737	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		460737	89894016	89	15253											
IGFALS	3483	broad.mit.edu	37	16	1841525	1841525	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:1841525G>A	uc010uvn.2	-	1	1089	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	IGFALS_uc002cmy.3_Silent_p.S298S|IGFALS_uc010uvo.2_5'UTR	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	298					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TGGCGTTGTGGGACAGCCGCA	0.687													A	1841525	G	A	1841525	2	1	222	1	0	0	0	0	0	0	0	1	7577	1219	43	3		3	IGFALS	16	1841525	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	1380788	1841525	88513228	90	15254											
PRSS22	64063	broad.mit.edu	37	16	2903295	2903295	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:2903295G>A	uc002cry.1	-	5	819	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	251	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCAGGCGCCGTCCACCTGGC	0.711													A	2903295	G	A	2903295	2	1	222	1	0	0	0	0	0	0	0	1	12619	1136	40	1		1	PRSS22	16	2903295	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	1061770	2903295	87451458	91	15255											
DNAH3	55567	broad.mit.edu	37	16	21045351	21045351	+	Silent	SNP	G	G	A	rs143127393	by1000genomes	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:21045351G>A	uc010vbe.2	-	35	5142	c.5142C>T	c.(5140-5142)ggC>ggT	p.G1714G		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1714	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTCTTGCCGCCCATGGGGT	0.498													A	21045351	G	A	21045351	2	1	222	1	0	0	0	0	0	0	0	1	4603	1074	38	1		1	DNAH3	16	21045351	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	18142056	21045351	69309402	92	15256											
ITGAD	3681	broad.mit.edu	37	16	31427865	31427865	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:31427865C>T	uc010cap.1	+	19	2449	c.2400C>T	c.(2398-2400)aaC>aaT	p.N800N	ITGAD_uc002ebv.1_Silent_p.N799N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	799					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			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						TGGAGCTCAACGTGATTGTGA	0.617													T	31427865	C	T	31427865	2	4	222	1	0	0	0	0	0	0	0	1	7884	535	19	1		1	ITGAD	16	31427865	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	10382514	31427865	58926888	93	15257											
ZFHX3	463	broad.mit.edu	37	16	72993903	72993903	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:72993903C>A	uc002fck.3	-	1	815	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	48					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCAAGGGCCCGTGGCTCTCG	0.667													A	72993903	C	A	72993903	3	1	222	1	0	0	0	0	1	0	0	0	17631	652	23	5	11005	5	ZFHX3	16	72993903	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	41566038	72993903	17360850	94	15258											
USP22	23326	broad.mit.edu	37	17	20924447	20924447	+	Silent	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:20924447G>T	uc002gym.4	-	2	601	c.397C>A	c.(397-399)Cga>Aga	p.R133R	USP22_uc002gyn.4_Silent_p.R121R|USP22_uc002gyl.4_Silent_p.R28R	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	133					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CAAGCTTTTCGCTGCTCCTCC	0.478													T	20924447	G	T	20924447	2	4	222	1	0	0	0	0	0	0	0	1	17051	1095	38	5		5	USP22	17	20924447	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08		20924447	60270763	95	15259											
KIF2B	84643	broad.mit.edu	37	17	51901070	51901070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:51901070C>T	uc002iua.2	+	0	832	c.676C>T	c.(676-678)Cga>Tga	p.R226*	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	226	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTCAACCAGCGAGAGACAAC	0.557													T	51901070	C	T	51901070	4	4	222	1	0	0	0	0	0	1	0	0	8298	760	27	1	678	1	KIF2B	17	51901070	Nonsense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	30976623	51901070	29294140	96	15260											
MARCH10	162333	broad.mit.edu	37	17	60879073	60879073	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:60879073C>A	uc010dds.3	-	1	309	c.24G>T	c.(22-24)agG>agT	p.R8S	MARCH10_uc010ddr.3_Missense_Mutation_p.R8S|MARCH10_uc002jag.4_Missense_Mutation_p.R8S|MARCH10_uc002jah.2_Missense_Mutation_p.R8S	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	8							ligase activity|zinc ion binding	p.R8R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AGAACTTCTGCCTGTCCCTTG	0.453													A	60879073	C	A	60879073	3	1	222	1	0	0	0	0	1	0	0	0	9299	738	26	5	2442	5	MARCH10	17	60879073	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	8978003	60879073	20316137	97	15261											
LRRC37A3	374819	broad.mit.edu	37	17	62856062	62856062	+	Missense_Mutation	SNP	A	A	C	rs139735390	by1000genomes	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:62856062A>C	uc002jey.2	-	10	4818	c.4202T>G	c.(4201-4203)gTt>gGt	p.V1401G	LRRC37A3_uc010wqg.1_Missense_Mutation_p.V519G|LRRC37A3_uc002jex.1_Missense_Mutation_p.V378G|LRRC37A3_uc010wqf.1_Missense_Mutation_p.V439G|LRRC37A3_uc010dek.1_Missense_Mutation_p.V407G|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1401						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCATAAAAACATTTTCTTC	0.368													C	62856062	A	C	62856062	3	2	222	1	0	0	0	0	1	0	0	0	8993	43	2	5	718	5	LRRC37A3	17	62856062	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	1976989	62856062	18339148	98	15262											
HELZ	9931	broad.mit.edu	37	17	65119252	65119252	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:65119252A>G	uc010wqk.2	-	25	3654	c.3467T>C	c.(3466-3468)aTt>aCt	p.I1156T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.I1155T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGATTGCCAATAAGTACAGA	0.388													G	65119252	A	G	65119252	3	3	222	1	0	0	0	0	1	0	0	0	7049	101	4	4	2396	4	HELZ	17	65119252	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	2263190	65119252	16075958	99	15263											
KIF19	124602	broad.mit.edu	37	17	72345437	72345437	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:72345437C>T	uc002jkm.4	+	9	1300	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	KIF19_uc002jkj.2_Missense_Mutation_p.R388W|KIF19_uc002jkk.2_Missense_Mutation_p.R346W|KIF19_uc002jkl.2_Missense_Mutation_p.R346W	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	388					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R388Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGACTGGGCGGGGCCAGGC	0.662													T	72345437	C	T	72345437	3	4	222	1	0	0	0	0	1	0	0	0	8282	759	27	1	1200	1	KIF19	17	72345437	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	7226185	72345437	8849773	100	15264											
CBX2	84733	broad.mit.edu	37	17	77758656	77758656	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:77758656G>A	uc002jxc.3	+	4	1472	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	472					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCGACCCCGACTCCGCCTC	0.662													A	77758656	G	A	77758656	3	1	222	1	0	0	0	0	1	0	0	0	2718	1058	37	2	1780	2	CBX2	17	77758656	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	5413219	77758656	3436554	101	15265											
FOXK2	3607	broad.mit.edu	37	17	80521333	80521333	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:80521333G>A	uc002kfn.3	+	1	694	c.523G>A	c.(523-525)Gta>Ata	p.V175I	FOXK2_uc002kfm.1_Missense_Mutation_p.V175I|FOXK2_uc010diu.3_Missense_Mutation_p.V175I	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	175					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGTGAAGGCCGTACAGCCACA	0.582													A	80521333	G	A	80521333	3	1	222	1	0	0	0	0	1	0	0	0	6015	1145	40	1	529	1	FOXK2	17	80521333	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	2762677	80521333	673877	102	15266											
CCDC102B	79839	broad.mit.edu	37	18	66504203	66504204	+	In_Frame_Ins	INS	-	-	TAT			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr18:66504203_66504204insTAT	uc002lkk.2	+	3	426_427	c.203_204insTAT	c.(202-204)gat>gaTATt	p.69_70insI	CCDC102B_uc002lki.2_In_Frame_Ins_p.69_70insI|CCDC102B_uc002lkj.1_In_Frame_Ins_p.69_70insI	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	69										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AACAAATGGGATATTTGTGAAG	0.505													TAT	66504204	-	TAT	66504203	7	5	222	1	0	1	1	0	0	0	0	0	2737	333	12	0	205	0	CCDC102B	18	66504203	In_Frame_Ins	INS	-	TCGA-32-1977-01A-01D-1353-08		66504203	11573045	103	15267											
LRRC8E	80131	broad.mit.edu	37	19	7963647	7963647	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:7963647G>T	uc002mir.3	+	2	341	c.240G>T	c.(238-240)caG>caT	p.Q80H		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	80						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCCCTGAGCAGATTGGGGCCC	0.522													T	7963647	G	T	7963647	3	4	222	1	0	0	0	0	1	0	0	0	9025	933	33	5	246	5	LRRC8E	19	7963647	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		7963647	51165336	104	15268											
TNPO2	30000	broad.mit.edu	37	19	12817567	12817567	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:12817567G>T	uc002mup.3	-	11	2051	c.1589C>A	c.(1588-1590)cCg>cAg	p.P530Q	TNPO2_uc002muq.3_Missense_Mutation_p.P438Q|TNPO2_uc002muo.3_Missense_Mutation_p.P438Q|TNPO2_uc002mur.3_Missense_Mutation_p.P438Q|SNORD41_uc002mut.1_5'Flank	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	438					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATCAGGTGCGGGATCAGCTC	0.632													T	12817567	G	T	12817567	3	4	222	1	0	0	0	0	1	0	0	0	16333	1116	39	5	1428	5	TNPO2	19	12817567	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	4853920	12817567	46311416	105	15269											
ZNF676	163223	broad.mit.edu	37	19	22363820	22363820	+	Silent	SNP	A	A	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:22363820A>T	uc002nqs.1	-	2	1017	c.699T>A	c.(697-699)gcT>gcA	p.A233A		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCGATTAAAAGCTTTGCCAC	0.358													T	22363820	A	T	22363820	2	4	222	1	0	0	0	0	0	0	0	1	18080	59	3	5		5	ZNF676	19	22363820	Silent	SNP	A	TCGA-32-1977-01A-01D-1353-08	9546253	22363820	36765163	106	15270											
RYR1	6261	broad.mit.edu	37	19	38983254	38983254	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:38983254G>A	uc002oit.3	+	37	6382	c.6252G>A	c.(6250-6252)cgG>cgA	p.R2084R	RYR1_uc002oiu.3_Silent_p.R2084R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2084	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.R2084Q(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)	AGGAGGAGCGGTCAGCAGAGG	0.627													A	38983254	G	A	38983254	2	1	222	1	0	0	0	0	0	0	0	1	13768	1248	44	3		3	RYR1	19	38983254	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	16619434	38983254	20145729	107	15271											
TIMM50	92609	broad.mit.edu	37	19	39972604	39972604	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:39972604delA	uc002olu.1	+	1	632	c.499delA	c.(499-501)aaafs	p.K167fs	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	64	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTATGCCAAAAAAGTTGC	0.607													-	39972604	A	-	39972604	7	5	222	1	0	1	0	1	0	0	0	0	15910	131	5	0	505	0	TIMM50	19	39972604	Frame_Shift_Del	DEL	A	TCGA-32-1977-01A-01D-1353-08	989350	39972604	19156379	108	15272											
ZNF284	342909	broad.mit.edu	37	19	44589943	44589943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:44589943G>A	uc002oyg.1	+	4	528	c.312G>A	c.(310-312)tgG>tgA	p.W104*	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AGCAAATCTGGGAACAAACTG	0.468													A	44589943	G	A	44589943	4	1	222	1	0	0	0	0	0	1	0	0	17818	1241	43	3	326	3	ZNF284	19	44589943	Nonsense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	4617339	44589943	14539040	109	15273											
ZNF528	84436	broad.mit.edu	37	19	52918709	52918709	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:52918709A>C	uc002pzh.3	+	6	1030	c.604A>C	c.(604-606)Act>Cct	p.T202P	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGCAAGCCTTACTAACCAAGT	0.398													C	52918709	A	C	52918709	3	2	222	1	0	0	0	0	1	0	0	0	17966	391	14	5	618	5	ZNF528	19	52918709	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	8328766	52918709	6210274	110	15274											
NLRP12	91662	broad.mit.edu	37	19	54314485	54314485	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:54314485C>T	uc002qcj.4	-	2	648	c.428G>A	c.(427-429)cGc>cAc	p.R143H	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R143H|NLRP12_uc002qci.4_Missense_Mutation_p.R143H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R143H	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	143					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			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)		GCGCGCATTGCGGTCTTCCAT	0.567													T	54314485	C	T	54314485	3	4	222	1	0	0	0	0	1	0	0	0	10474	768	27	1	2885	1	NLRP12	19	54314485	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1395776	54314485	4814498	111	15275											
ZNF416	55659	broad.mit.edu	37	19	58084494	58084494	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:58084494G>A	uc002qpf.3	-	3	949	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACTCTTTGCAGCTGAACAAGG	0.458													A	58084494	G	A	58084494	2	1	222	1	0	0	0	0	0	0	0	1	17890	962	34	3		3	ZNF416	19	58084494	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	3770009	58084494	1044489	112	15276											
TRPM2	7226	broad.mit.edu	37	21	45786765	45786765	+	Silent	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr21:45786765G>A	uc010gpt.1	+	3	652	c.552G>A	c.(550-552)ccG>ccA	p.P184P	TRPM2_uc002zet.1_Silent_p.P184P|TRPM2_uc002zeu.1_Silent_p.P184P|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.P184P|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	184						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACATGAAGCCGCGGCTGAAGA	0.637													A	45786765	G	A	45786765	2	1	222	1	0	0	0	0	0	0	0	1	16583	1074	38	1		1	TRPM2	21	45786765	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08		45786765	2343130	113	15277											
LZTR1	8216	broad.mit.edu	37	22	21343151	21343151	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr22:21343151G>A	uc002zto.3	+	5	686	c.583G>A	c.(583-585)Ggc>Agc	p.G195S	LZTR1_uc002ztn.3_Missense_Mutation_p.G154S|LZTR1_uc011ahy.2_Missense_Mutation_p.G176S|LZTR1_uc010gsr.1_Missense_Mutation_p.G66S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	195					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G195C(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGCTATGACGGCAACGCCAG	0.637													A	21343151	G	A	21343151	3	1	222	1	0	0	0	0	1	0	0	0	9137	1116	39	2	605	2	LZTR1	22	21343151	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		21343151	29961415	114	15278											
SYTL5	94122	broad.mit.edu	37	X	37955451	37955451	+	Silent	SNP	C	C	T			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chrX:37955451C>T	uc004ddx.3	+	7	1382	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	SYTL5_uc004ddu.3_Silent_p.S342S|SYTL5_uc004ddv.3_Silent_p.S342S	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	342					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ATACTGTAAGCATAAGAAGCA	0.413													T	37955451	C	T	37955451	2	4	222	1	0	0	0	0	0	0	0	1	15483	709	25	3		3	SYTL5	23	37955451	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		37955451	117315109	115	15279											
GRHL3	57822	broad.mit.edu	37	1	24669384	24669384	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:24669384G>A	uc021oiw.1	+	10	1518	c.1288G>A	c.(1288-1290)Gtc>Atc	p.V430I	GRHL3_uc001bix.3_Missense_Mutation_p.V430I|GRHL3_uc021oix.1_Missense_Mutation_p.V384I|GRHL3_uc001biy.3_Missense_Mutation_p.V435I|GRHL3_uc001biz.3_Missense_Mutation_p.V337I	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	430					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCCATCAGGCGTCAAGGGCTG	0.632													A	24669384	G	A	24669384	3	1	223	1	0	0	0	0	1	0	0	0	6765	1145	40	1	1366	1	GRHL3	1	24669384	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		24669384	224581237	1	15280											
YTHDF2	51441	broad.mit.edu	37	1	29069013	29069013	+	Silent	SNP	G	G	A	rs11553689		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:29069013G>A	uc021okf.1	+	4	494	c.231G>A	c.(229-231)acG>acA	p.T77T	YTHDF2_uc001brc.3_Silent_p.T77T|YTHDF2_uc010ofx.2_Silent_p.T27T|YTHDF2_uc001bre.3_Silent_p.T27T	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	77					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGTCTACGGGGGGTGACA	0.502													A	29069013	G	A	29069013	2	1	223	1	0	0	0	0	0	0	0	1	17496	1103	39	2		2	YTHDF2	1	29069013	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	4399629	29069013	220181608	2	15281											
BRDT	676	broad.mit.edu	37	1	92445139	92445139	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:92445139C>T	uc001dol.4	+	8	1530	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	BRDT_uc010osz.2_Missense_Mutation_p.T375M|BRDT_uc001dok.4_Missense_Mutation_p.T371M|BRDT_uc009wdf.3_Missense_Mutation_p.T298M|BRDT_uc010otb.2_Missense_Mutation_p.T325M|BRDT_uc010ota.2_Missense_Mutation_p.T325M|BRDT_uc001dom.4_Missense_Mutation_p.T371M	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.T371T(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)		GTTTTCGAAACGCATTTTTCA	0.318													T	92445139	C	T	92445139	3	4	223	1	0	0	0	0	1	0	0	0	1508	536	19	1	1138	1	BRDT	1	92445139	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	63376126	92445139	156805482	3	15282											
APH1A	51107	broad.mit.edu	37	1	150241179	150241179	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:150241179A>G	uc001ety.2	-	0	431	c.32T>C	c.(31-33)tTc>tCc	p.F11S	APH1A_uc001etz.2_Missense_Mutation_p.F11S|APH1A_uc010pbx.2_Missense_Mutation_p.F11S|APH1A_uc010pby.2_Missense_Mutation_p.F11S|APH1A_uc010pbz.2_5'UTR	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.	11					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-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)			GAACGCGACGAAAGTGCAGCC	0.662													G	150241179	A	G	150241179	3	3	223	1	0	0	0	0	1	0	0	0	771	246	9	4	804	4	APH1A	1	150241179	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	57796040	150241179	99009442	4	15283											
OR6N2	81442	broad.mit.edu	37	1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	rs144962739		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:158746549G>A	uc010pir.2	-	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418													A	158746549	G	A	158746549	3	1	223	1	0	0	0	0	1	0	0	0	11207	1058	37	2	79	2	OR6N2	1	158746549	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	8505370	158746549	90504072	5	15284											
C1orf49	400798	broad.mit.edu	37	1	178514898	178514898	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:178514898G>A	uc001glv.1	+						C1orf220_uc001glx.1_Non-coding_Transcript			Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 3, mRNA.							microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						CAGTTTGTTCGTCAAAGGGCC	0.483													A	178514898	G	A	178514898	3	1	223	1	0	0	0	0	1	0	0	0	2041	1160	40	1		1	C1orf49	1	178514898	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	19768349	178514898	70735723	6	15285											
GPR25	2848	broad.mit.edu	37	1	200842843	200842843	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:200842843G>A	uc001gvn.1	+	0	678	c.678G>A	c.(676-678)tcG>tcA	p.S226S		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	226						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GCCGCATCTCGCGCCGCCTGC	0.682													A	200842843	G	A	200842843	2	1	223	1	0	0	0	0	0	0	0	1	6683	1074	38	1		1	GPR25	1	200842843	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	22327945	200842843	48407778	7	15286											
DUSP10	11221	broad.mit.edu	37	1	221879666	221879666	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:221879666C>G	uc001hmy.2	-	2	1191	c.954G>C	c.(952-954)gaG>gaC	p.E318D	DUSP10_uc001hmx.2_5'UTR|DUSP10_uc001hmz.2_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	318					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E318*(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GCTCAGCGTTCTCGATGTCAG	0.632													G	221879666	C	G	221879666	3	3	223	1	0	0	0	0	1	0	0	0	4810	912	32	5	502	5	DUSP10	1	221879666	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	21036823	221879666	27370955	8	15287											
APOB	338	broad.mit.edu	37	2	21233457	21233457	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:21233457C>T	uc002red.3	-	25	6411	c.6283G>A	c.(6283-6285)Gta>Ata	p.V2095I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2095	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTCTCTGTACGTTTTCCAGT	0.368													T	21233457	C	T	21233457	3	4	223	1	0	0	0	0	1	0	0	0	785	536	19	1	7424	1	APOB	2	21233457	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		21233457	221965916	9	15288											
TMEM150A	129303	broad.mit.edu	37	2	85828199	85828199	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:85828199C>G	uc002spy.2	-	3	354	c.145G>C	c.(145-147)Gct>Cct	p.A49P	USP39_uc002sqb.3_5'Flank|TMEM150A_uc002spx.2_5'UTR|TMEM150A_uc002spz.2_Silent_p.L18L	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	Homo sapiens transmembrane protein 150A (TMEM150A), transcript variant 1, mRNA.	49						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CCTTGCTCAGCAGGGTCAGGA	0.642													G	85828199	C	G	85828199	3	3	223	1	0	0	0	0	1	0	0	0	16064	710	25	5	690	5	TMEM150A	2	85828199	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	64594742	85828199	157371174	10	15289											
BAZ2B	29994	broad.mit.edu	37	2	160241783	160241783	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:160241783T>C	uc002uao.3	-	22	3974	c.3569A>G	c.(3568-3570)cAa>cGa	p.Q1190R	BAZ2B_uc002uap.3_Missense_Mutation_p.Q1154R	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAGCTCAGTTTGTCCACAGTG	0.438													C	160241783	T	C	160241783	3	2	223	1	0	0	0	0	1	0	0	0	1332	1812	63	4	2997	4	BAZ2B	2	160241783	Missense_Mutation	SNP	T	TCGA-32-1979-01A-01D-1696-08	74413584	160241783	82957590	11	15290											
ARPC2	10109	broad.mit.edu	37	2	219103491	219103492	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:219103491_219103492delTT	uc002vhd.3	+	5	485_486	c.373_374delTT	c.(373-375)tttfs	p.F125fs	ARPC2_uc002vhe.3_Frame_Shift_Del_p.F125fs|ARPC2_uc002vhf.3_Frame_Shift_Del_p.F11fs	NM_152862	NP_690601	O15144	ARPC2_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 2, 34kDa (ARPC2), transcript variant 1, mRNA.	125					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	p.V124V(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TGCCTCTGTCTTTGAAAAATAC	0.416													-	219103492	TT	-	219103491	7	5	223	1	0	1	0	1	0	0	0	0	971	1609	56	0	391	0	ARPC2	2	219103491	Frame_Shift_Del	DEL	TT	TCGA-32-1979-01A-01D-1696-08	58861708	219103491	24095882	12	15291											
UGT1A1	54579	broad.mit.edu	37	2	234621782	234621782	+	Missense_Mutation	SNP	C	C	T	rs41270755	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:234621782C>T	uc002vuw.3	+	0	145	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.R49W	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	48					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGAGGCCTTGCGGGACCTCCA	0.582													T	234621782	C	T	234621782	3	4	223	1	0	0	0	0	1	0	0	0	16941	759	27	1		1	UGT1A1	2	234621782	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	15518291	234621782	8577591	13	15292											
WDR82	80335	broad.mit.edu	37	3	52304745	52304745	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:52304745C>G	uc003ddl.2	-	1	524	c.242G>C	c.(241-243)aGc>aCc	p.S81T	WDR82_uc003ddk.2_5'Flank|MIRLET7G_uc011bee.2_5'Flank	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	81					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTTGTTAGAGCTGTAAACAAC	0.378													G	52304745	C	G	52304745	3	3	223	1	0	0	0	0	1	0	0	0	17328	797	28	5	731	5	WDR82	3	52304745	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		52304745	145717685	14	15293											
DNAH12	201625	broad.mit.edu	37	3	57493505	57493505	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:57493505G>A	uc003dit.2	-	7	943	c.762C>T	c.(760-762)aaC>aaT	p.N254N	DNAH12_uc003diu.2_Silent_p.N254N	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	254	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCTCTTCTGCGTTTCTAGTTT	0.333													A	57493505	G	A	57493505	2	1	223	1	0	0	0	0	0	0	0	1	4600	1136	40	1		1	DNAH12	3	57493505	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	5188760	57493505	140528925	15	15294											
AADACL2	344752	broad.mit.edu	37	3	151475339	151475339	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:151475339G>A	uc003ezc.3	+	4	1283	c.1163G>A	c.(1162-1164)aGg>aAg	p.R388K	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.R175K	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	388						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTAGGTCTTAGGATAAGAGAT	0.328													A	151475339	G	A	151475339	3	1	223	1	0	0	0	0	1	0	0	0	11	1000	35	3	1181	3	AADACL2	3	151475339	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	93981834	151475339	46547091	16	15295											
PIK3CA	5290	broad.mit.edu	37	3	178952152	178952152	+	Nonstop_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:178952152A>G	uc003fjk.3	+	20	3364	c.3207A>G	c.(3205-3207)tgA>tgG	p.*1069W		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	0					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N1068fs*4(15)|p.*1069_*1069insWKDN*(6)|p.N1068fs*5(2)|p.*1069W(1)|p.*1069fs*3(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATTGAACTGAAAAGATAACT	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952152	A	G	178952152	4	3	223	1	0	0	0	0	0	0	0	0	11913	259	9	4	3285	4	PIK3CA	3	178952152	Nonstop_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	27476813	178952152	19070278	17	15296											
GABRG1	2565	broad.mit.edu	37	4	46043099	46043099	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:46043099C>T	uc003gxb.3	-	8	1456	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	435					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R435C(2)		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)		TTTGGCAATGCGTATGTGTAT	0.403													T	46043099	C	T	46043099	3	4	223	1	0	0	0	0	1	0	0	0	6171	768	27	1	97	1	GABRG1	4	46043099	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		46043099	145111177	18	15297											
FRYL	285527	broad.mit.edu	37	4	48536560	48536560	+	Splice_Site	SNP	A	A	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:48536560A>C	uc003gyh.1	-	49	7310	c.6705_splice	c.e49+1	p.Q2235_splice	FRYL_uc003gyg.1_Splice_Site_p.Q931_splice|FRYL_uc003gyi.1_Splice_Site_p.Q1123_splice|FRYL_uc003gyj.1_Splice_Site_p.Q530_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2235					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						gtggtcacTCACCTGTACATA	0.343													C	48536560	A	C	48536560	5	2	223	1	0	0	0	0	0	0	1	0	6064	173	6	5	2398	5	FRYL	4	48536560	Splice_Site	SNP	A	TCGA-32-1979-01A-01D-1696-08	2493461	48536560	142617716	19	15298											
UGT2B28	54490	broad.mit.edu	37	4	70160487	70160487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:70160487G>A	uc003hej.3	+	5	1552	c.1550G>A	c.(1549-1551)tGg>tAg	p.W517*	UGT2B28_uc010ihr.3_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	517					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.F516F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTTTGTTTCTGGAAGTTTGCT	0.413													A	70160487	G	A	70160487	4	1	223	1	0	0	0	0	0	1	0	0	16957	1357	47	3	1572	3	UGT2B28	4	70160487	Nonsense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	21623927	70160487	120993789	20	15299											
ANKRD17	26057	broad.mit.edu	37	4	73959897	73959897	+	Silent	SNP	T	T	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:73959897T>C	uc003hgp.3	-	27	5343	c.5226A>G	c.(5224-5226)ggA>ggG	p.G1742G	ANKRD17_uc003hgo.3_Silent_p.G1629G|ANKRD17_uc003hgq.3_Silent_p.G1491G|ANKRD17_uc003hgr.3_Silent_p.G1741G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1742	KH.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCCTCCTCTTCCAATCACTC	0.333													C	73959897	T	C	73959897	2	2	223	1	0	0	0	0	0	0	0	1	646	1770	62	4		4	ANKRD17	4	73959897	Silent	SNP	T	TCGA-32-1979-01A-01D-1696-08	3799410	73959897	117194379	21	15300											
TRAM1L1	133022	broad.mit.edu	37	4	118005491	118005491	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:118005491T>G	uc003ibv.4	-	0	1246	c.1059A>C	c.(1057-1059)gaA>gaC	p.E353D		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	353					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TATTTGAAGTTTCCACTCCCA	0.393													G	118005491	T	G	118005491	3	3	223	1	0	0	0	0	1	0	0	0	16449	1838	64	5	54	5	TRAM1L1	4	118005491	Missense_Mutation	SNP	T	TCGA-32-1979-01A-01D-1696-08	44045594	118005491	73148785	22	15301											
TKTL2	84076	broad.mit.edu	37	4	164394680	164394680	+	Silent	SNP	G	G	A	rs114941835	by1000genomes	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:164394680G>A	uc003iqp.4	-	0	368	c.207C>T	c.(205-207)aaC>aaT	p.N69N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	69						cytoplasm	metal ion binding|transketolase activity	p.N69K(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAACCGGTCGTTGTCCGGGT	0.557													A	164394680	G	A	164394680	2	1	223	1	0	0	0	0	0	0	0	1	15933	1136	40	1		1	TKTL2	4	164394680	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	46389189	164394680	26759596	23	15302											
IRX2	153572	broad.mit.edu	37	5	2749815	2749815	+	Silent	SNP	G	G	A	rs138413279	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:2749815G>A	uc003jda.3	-	1	578	c.336C>T	c.(334-336)ctC>ctT	p.L112L	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.L112L	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	112						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGTCGTTGAGCTGGTACG	0.682													A	2749815	G	A	2749815	2	1	223	1	0	0	0	0	0	0	0	1	7844	1277	45	3		3	IRX2	5	2749815	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		2749815	178165445	24	15303											
UGT3A2	167127	broad.mit.edu	37	5	36036029	36036029	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:36036029G>A	uc003jjz.2	-	6	1475	c.1343C>T	c.(1342-1344)cCg>cTg	p.P448L	UGT3A2_uc011cos.2_Missense_Mutation_p.P414L|UGT3A2_uc011cot.2_Missense_Mutation_p.P146L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	448						integral to membrane	glucuronosyltransferase activity			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)			GGGGCTGAGCGGGTGGGAGCG	0.597													A	36036029	G	A	36036029	3	1	223	1	0	0	0	0	1	0	0	0	16961	1116	39	2	232	2	UGT3A2	5	36036029	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	33286214	36036029	144879231	25	15304											
HCN1	348980	broad.mit.edu	37	5	45303809	45303809	+	Nonsense_Mutation	SNP	G	G	A	rs35229491		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:45303809G>A	uc003jok.3	-	5	1535	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	504						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R504*(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTCCTTCTCGTATGATATAA	0.403													A	45303809	G	A	45303809	4	1	223	1	0	0	0	0	0	1	0	0	6996	1153	40	1	1174	1	HCN1	5	45303809	Nonsense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9267780	45303809	135611451	26	15305											
P4HA2	8974	broad.mit.edu	37	5	131544873	131544873	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:131544873C>T	uc003kwh.3	-	6	1425	c.861G>A	c.(859-861)agG>agA	p.R287R	P4HA2_uc003kwg.3_Silent_p.R287R|P4HA2_uc003kwi.3_Silent_p.R287R|P4HA2_uc003kwk.3_Silent_p.R287R|P4HA2_uc003kwl.3_Silent_p.R287R|P4HA2_uc003kwj.3_Silent_p.R287R	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	287						endoplasmic reticulum lumen	electron carrier activity|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-proline 4-dioxygenase activity|protein binding	p.R287R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CGTAAACATCCCTCTCAGGCA	0.542													T	131544873	C	T	131544873	2	4	223	1	0	0	0	0	0	0	0	1	11357	622	22	3		3	P4HA2	5	131544873	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	86241064	131544873	49370387	27	15306											
PCDH12	51294	broad.mit.edu	37	5	141336339	141336339	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:141336339G>C	uc003llx.3	-	0	2289	c.1078C>G	c.(1078-1080)Cca>Gca	p.P360A		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	360	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGTGATGGCTGGGAGGCC	0.507													C	141336339	G	C	141336339	3	2	223	1	0	0	0	0	1	0	0	0	11510	1203	42	5	2492	5	PCDH12	5	141336339	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9791466	141336339	39578921	28	15307											
PDE6A	5145	broad.mit.edu	37	5	149265912	149265912	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:149265912G>A	uc003lrg.4	-	13	1874	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	PDE6A_uc021yfs.1_Missense_Mutation_p.T504M	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	585					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTCTAGGTCCGTGAAGTAGCG	0.532													A	149265912	G	A	149265912	3	1	223	1	0	0	0	0	1	0	0	0	11645	1145	40	1	864	1	PDE6A	5	149265912	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	7929573	149265912	31649348	29	15308											
FAM71B	153745	broad.mit.edu	37	5	156590194	156590194	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:156590194G>A	uc003lwn.3	-	1	1182	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	361						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGGCCCCCGCCATCGAGGT	0.567													A	156590194	G	A	156590194	3	1	223	1	0	0	0	0	1	0	0	0	5608	1087	38	1	739	1	FAM71B	5	156590194	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	7324282	156590194	24325066	30	15309											
GABRB2	2561	broad.mit.edu	37	5	160721114	160721114	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:160721114C>T	uc003lys.1	-	10	1731	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I	GABRB2_uc011deh.1_Missense_Mutation_p.V306I|GABRB2_uc003lyr.1_Missense_Mutation_p.V467I|GABRB2_uc003lyt.1_Missense_Mutation_p.V467I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	505					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCCAATAGACGATGTTGAAG	0.453													T	160721114	C	T	160721114	3	4	223	1	0	0	0	0	1	0	0	0	6167	536	19	1	29	1	GABRB2	5	160721114	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	4130920	160721114	20194146	31	15310											
KIF13A	63971	broad.mit.edu	37	6	17779855	17779855	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:17779855C>T	uc003ncg.4	-	31	4067	c.3907G>A	c.(3907-3909)Gta>Ata	p.V1303I	KIF13A_uc003ncf.3_Missense_Mutation_p.V1290I|KIF13A_uc003nch.4_Missense_Mutation_p.V1303I|KIF13A_uc003nci.4_Missense_Mutation_p.V1290I|KIF13A_uc003nce.2_5'Flank	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1303					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCATAGGTTACACCACAGGAA	0.383													T	17779855	C	T	17779855	3	4	223	1	0	0	0	0	1	0	0	0	8274	478	17	3	1567	3	KIF13A	6	17779855	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		17779855	153335212	32	15311											
DEF6	50619	broad.mit.edu	37	6	35280250	35280250	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:35280250C>T	uc003okk.3	+	3	634	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	DEF6_uc010jvs.3_Missense_Mutation_p.R199W|DEF6_uc010jvt.3_Intron	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	199						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGGCGTGGGCCGGGACACCCT	0.652													T	35280250	C	T	35280250	3	4	223	1	0	0	0	0	1	0	0	0	4386	643	23	2	609	2	DEF6	6	35280250	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	17500395	35280250	135834817	33	15312											
MOCS1	4337	broad.mit.edu	37	6	39877612	39877612	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:39877612C>T	uc003opb.3	-	7	1207	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	MOCS1_uc003opa.3_Missense_Mutation_p.A357T|MOCS1_uc003opd.3_Missense_Mutation_p.A357T|MOCS1_uc003ope.3_Missense_Mutation_p.A270T	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	p.A357V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCACAGCAGCCCCAATGATT	0.622													T	39877612	C	T	39877612	3	4	223	1	0	0	0	0	1	0	0	0	9690	739	26	3	96	3	MOCS1	6	39877612	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	4597362	39877612	131237455	34	15313											
KIAA1244	57221	broad.mit.edu	37	6	138531138	138531138	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:138531138C>T	uc003qhu.3	+	3	482	c.311C>T	c.(310-312)aCg>aTg	p.T104M		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	104					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTGAAAGTGACGCCTTCGCTC	0.502													T	138531138	C	T	138531138	3	4	223	1	0	0	0	0	1	0	0	0	8217	536	19	1	325	1	KIAA1244	6	138531138	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	98653526	138531138	32583929	35	15314											
IGF2R	3482	broad.mit.edu	37	6	160501272	160501272	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:160501272A>G	uc003qta.3	+	38	5946	c.5798A>G	c.(5797-5799)tAc>tGc	p.Y1933C		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1933	Fibronectin type-II.				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			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)		ACTGCGGACTACGACAGAGAC	0.577													G	160501272	A	G	160501272	3	3	223	1	0	0	0	0	1	0	0	0	7576	391	14	4	5952	4	IGF2R	6	160501272	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	21970134	160501272	10613795	36	15315											
SCIN	85477	broad.mit.edu	37	7	12683930	12683930	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:12683930C>T	uc003ssn.4	+	11	1959	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	SCIN_uc010ktt.3_Intron|SCIN_uc003sso.4_Silent_p.G336G	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	583	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCCAAGAAGGCGAGGAGCCAG	0.448													T	12683930	C	T	12683930	2	4	223	1	0	0	0	0	0	0	0	1	13905	755	27	1		1	SCIN	7	12683930	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08		12683930	146454733	37	15316											
IKZF1	10320	broad.mit.edu	37	7	50467929	50467929	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:50467929G>A	uc003tow.4	+	7	1319	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	IKZF1_uc022acq.1_Silent_p.A245A|IKZF1_uc003tpa.4_Silent_p.A153A|IKZF1_uc022acr.1_Silent_p.A163A|IKZF1_uc022acs.1_Silent_p.A118A|IKZF1_uc022act.1_Silent_p.A291A|IKZF1_uc022acu.1_Silent_p.A301A|IKZF1_uc003tox.4_Silent_p.A346A|IKZF1_uc022acv.1_Silent_p.A249A|IKZF1_uc022acw.1_Silent_p.A259A|IKZF1_uc022acx.1_Silent_p.A301A|IKZF1_uc022acy.1_Silent_p.A195A|IKZF1_uc022acz.1_Silent_p.A205A|IKZF1_uc011kck.2_Silent_p.A301A|IKZF1_uc003toy.4_Silent_p.A346A|IKZF1_uc003toz.4_Silent_p.A358A|IKZF1_uc010kyx.3_Silent_p.A128A	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	388					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGCGCGAGGCGTCCCCGAGCA	0.672			"D,T"	BCL6	"ALL, DLBCL"								A	50467929	G	A	50467929	2	1	223	1	0	0	0	0	0	0	0	1	7614	1132	40	1		1	IKZF1	7	50467929	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	37783999	50467929	108670734	38	15317											
EGFR	1956	broad.mit.edu	37	7	55221765	55221765	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:55221765A>G	uc003tqk.3	+	6	1055	c.809A>G	c.(808-810)tAc>tGc	p.Y270C	EGFR_uc003tqh.3_Missense_Mutation_p.Y270C|EGFR_uc003tqi.3_Missense_Mutation_p.Y270C|EGFR_uc003tqj.3_Missense_Mutation_p.Y270C|EGFR_uc022adm.1_Missense_Mutation_p.Y270C|EGFR_uc010kzg.2_Missense_Mutation_p.Y225C|EGFR_uc022adn.1_Missense_Mutation_p.Y225C|EGFR_uc011kco.2_Missense_Mutation_p.Y217C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	270					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTCATGCTCTACAACCCCACC	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55221765	A	G	55221765	3	3	223	1	0	0	0	0	1	0	0	0	4967	391	14	4	835	4	EGFR	7	55221765	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	4753836	55221765	103916898	39	15318											
AZGP1	563	broad.mit.edu	37	7	99565820	99565820	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:99565820G>A	uc003ush.3	-	2	663	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	191					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGGTATTTCCGCAGAGTCGCA	0.552													A	99565820	G	A	99565820	3	1	223	1	0	0	0	0	1	0	0	0	1239	1086	38	1	333	1	AZGP1	7	99565820	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	44344055	99565820	59572843	40	15319											
OR6V1	346517	broad.mit.edu	37	7	142749461	142749461	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:142749461C>T	uc011ksv.2	+	0	24	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8S(3)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCAGCCCTCCGAATTTGTCC	0.517													T	142749461	C	T	142749461	2	4	223	1	0	0	0	0	0	0	0	1	11211	639	23	2		2	OR6V1	7	142749461	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	43183641	142749461	16389202	41	15320											
CNTNAP2	26047	broad.mit.edu	37	7	147259237	147259237	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:147259237C>T	uc003weu.2	+	11	2301	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	595	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGCTATCTACGAGCCTTCCT	0.448										HNSCC(39;0.1)			T	147259237	C	T	147259237	2	4	223	1	0	0	0	0	0	0	0	1	3647	547	19	1		1	CNTNAP2	7	147259237	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	4509776	147259237	11879426	42	15321											
SSPO	23145	broad.mit.edu	37	7	149489760	149489760	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:149489760A>C	uc010lpk.3	+	37	5807	c.5807A>C	c.(5806-5808)aAc>aCc	p.N1936T		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1939	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTCCAACAACCCCCGCCCC	0.692													C	149489760	A	C	149489760	3	2	223	1	0	0	0	0	1	0	0	0	15188	43	2	5	5962	5	SSPO	7	149489760	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	2230523	149489760	9648903	43	15322											
PRKDC	5591	broad.mit.edu	37	8	48805878	48805878	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:48805878G>A	uc003xqi.3	-	30	3725	c.3668C>T	c.(3667-3669)aCc>aTc	p.T1223I	PRKDC_uc003xqj.3_Missense_Mutation_p.T1223I	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1223					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCCCTCAAAGGTGTTGATGAG	0.522								Non-homologous end-joining					A	48805878	G	A	48805878	3	1	223	1	0	0	0	0	1	0	0	0	12521	1261	44	3	8941	3	PRKDC	8	48805878	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		48805878	97558144	44	15323											
PENK	5179	broad.mit.edu	37	8	57353950	57353950	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:57353950G>A	uc003xsz.2	-	1	766	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	PENK_uc003xta.3_Missense_Mutation_p.R229W	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	229					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.R229W(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTCCATACCGTTTCTGGTAG	0.517													A	57353950	G	A	57353950	3	1	223	1	0	0	0	0	1	0	0	0	11727	1144	40	1	122	1	PENK	8	57353950	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	8548072	57353950	89010072	45	15324											
OXR1	55074	broad.mit.edu	37	8	107722899	107722899	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:107722899G>T	uc011lht.2	+	8	1776	c.1677G>T	c.(1675-1677)ttG>ttT	p.L559F	OXR1_uc022azp.1_Missense_Mutation_p.L558F|OXR1_uc003ymf.3_Missense_Mutation_p.L558F|OXR1_uc011lhu.2_Missense_Mutation_p.L551F|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.L256F	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	559					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				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)			ATAAGTTCTTGTGTCTCAGAG	0.358													T	107722899	G	T	107722899	3	4	223	1	0	0	0	0	1	0	0	0	11334	1368	48	5	1911	5	OXR1	8	107722899	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	50368949	107722899	38641123	46	15325											
ST3GAL1	6482	broad.mit.edu	37	8	134488106	134488106	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:134488106G>C	uc003yuk.2	-	4	991	c.162C>G	c.(160-162)atC>atG	p.I54M	ST3GAL1_uc003yum.2_Missense_Mutation_p.I54M	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	54					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCCTGTGCTTGATCAGTCTCT	0.597													C	134488106	G	C	134488106	3	2	223	1	0	0	0	0	1	0	0	0	15213	1280	45	5	884	5	ST3GAL1	8	134488106	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	26765207	134488106	11875916	47	15326											
BNC2	54796	broad.mit.edu	37	9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:16436735C>T	uc003zml.3	-	5	1597	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_uc011lmw.2_Missense_Mutation_p.R391H|BNC2_uc003zmm.3_Missense_Mutation_p.R444H|BNC2_uc003zmq.1_Missense_Mutation_p.R500H|BNC2_uc003zmr.1_Missense_Mutation_p.R523H|BNC2_uc003zmp.1_Missense_Mutation_p.R514H|BNC2_uc010mij.1_Missense_Mutation_p.R408H|BNC2_uc011lmv.2_Missense_Mutation_p.R312H|BNC2_uc003zmo.1_Missense_Mutation_p.R408H|BNC2_uc003zmj.3_Missense_Mutation_p.R251H|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R251H|BNC2_uc003zmn.1_Missense_Mutation_p.R251H	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCGATTACGACTTCGGAG	0.463													T	16436735	C	T	16436735	3	4	223	1	0	0	0	0	1	0	0	0	1475	536	19	1	1850	1	BNC2	9	16436735	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		16436735	124776696	48	15327											
C9orf64	84267	broad.mit.edu	37	9	86559803	86559803	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:86559803A>T	uc004anb.3	-	2	947	c.699T>A	c.(697-699)agT>agA	p.S233R	C9orf64_uc004anc.3_Missense_Mutation_p.S92R	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	233								p.S233C(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACATGGTGATACTGGAGATGT	0.428													T	86559803	A	T	86559803	3	4	223	1	0	0	0	0	1	0	0	0	2489	388	14	5	334	5	C9orf64	9	86559803	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	70123068	86559803	54653628	49	15328											
HDHD3	81932	broad.mit.edu	37	9	116136378	116136378	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:116136378G>A	uc022bme.1	-	0	257	c.257C>T	c.(256-258)gCg>gTg	p.A86V	HDHD3_uc004bhi.1_Missense_Mutation_p.A86V|HDHD3_uc004bhk.3_Missense_Mutation_p.A86V	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	86							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CTGGACACCCGCCAGGTGGAA	0.617													A	116136378	G	A	116136378	3	1	223	1	0	0	0	0	1	0	0	0	7024	1087	38	1	502	1	HDHD3	9	116136378	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	29576575	116136378	25077053	50	15329											
FAM129B	64855	broad.mit.edu	37	9	130272452	130272452	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:130272452G>A	uc004brh.3	-	8	1336	c.1134C>T	c.(1132-1134)aaC>aaT	p.N378N	FAM129B_uc004bri.3_Silent_p.N365N|FAM129B_uc004brj.4_Silent_p.N378N	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	378							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCCGCCCTCGTTGATGACGT	0.637													A	130272452	G	A	130272452	2	1	223	1	0	0	0	0	0	0	0	1	5437	1136	40	1		1	FAM129B	9	130272452	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	14136074	130272452	10940979	51	15330											
RET	5979	broad.mit.edu	37	10	43606701	43606701	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:43606701A>T	uc001jal.3	+	6	1500	c.1310A>T	c.(1309-1311)aAc>aTc	p.N437I	RET_uc001jak.1_Missense_Mutation_p.N437I|RET_uc010qez.1_Missense_Mutation_p.N183I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	437					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.N437N(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)	AGTGGCATCAACGTCCAGTAC	0.582		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				T	43606701	A	T	43606701	3	4	223	1	0	0	0	0	1	0	0	0	13235	43	2	5	1336	5	RET	10	43606701	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08		43606701	91928046	52	15331											
DNMBP	23268	broad.mit.edu	37	10	101716663	101716663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:101716663G>A	uc001kqj.2	-	3	660	c.568C>T	c.(568-570)Cga>Tga	p.R190*	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	190	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATGCCTCTTCGGCCCTCTAAC	0.488													A	101716663	G	A	101716663	4	1	223	1	0	0	0	0	0	1	0	0	4674	1124	39	2	4221	2	DNMBP	10	101716663	Nonsense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	58109962	101716663	33818084	53	15332											
ATHL1	80162	broad.mit.edu	37	11	294169	294169	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:294169C>T	uc010qvu.2	+	11	1896	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	ATHL1_uc001lor.4_Missense_Mutation_p.A346V|ATHL1_uc001lou.4_Missense_Mutation_p.A169V|ATHL1_uc001lov.4_Missense_Mutation_p.A55V	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	594					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TTCCTGCAGGCGGTGGTCTTC	0.652													T	294169	C	T	294169	3	4	223	1	0	0	0	0	1	0	0	0	1104	768	27	1	1823	1	ATHL1	11	294169	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		294169	134712347	54	15333											
TNNT3	7140	broad.mit.edu	37	11	1956149	1956149	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:1956149C>T	uc001luu.4	+	14	893	c.681_splice	c.e14+1	p.D227_splice	TNNT3_uc001lun.2_Splice_Site_p.D123_splice|TNNT3_uc001luw.4_Splice_Site_p.D219_splice|TNNT3_uc001luo.4_Splice_Site_p.D219_splice|TNNT3_uc001lup.4_Splice_Site_p.D225_splice|TNNT3_uc001luq.4_Splice_Site_p.D219_splice|TNNT3_uc001lur.3_Splice_Site_p.D219_splice|TNNT3_uc010qxf.2_Splice_Site_p.D225_splice|TNNT3_uc010qxg.2_Splice_Site_p.D159_splice	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	238					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGAAATATGACGTGAGTCCCG	0.617													T	1956149	C	T	1956149	2	4	223	1	0	0	0	0	0	0	0	1	16329	550	19	1		1	TNNT3	11	1956149	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	1661980	1956149	133050367	55	15334											
SLC6A5	9152	broad.mit.edu	37	11	20648387	20648387	+	Missense_Mutation	SNP	C	C	T	rs146647574	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:20648387C>T	uc001mqd.3	+	8	1668	c.1395_splice	c.e8+1	p.T465_splice	SLC6A5_uc009yic.3_Splice_Site_p.T230_splice	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	465					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACGGATGCCACGGTGGGCTTC	0.562													T	20648387	C	T	20648387	3	4	223	1	0	0	0	0	1	0	0	0	14687	550	19	1	1424	1	SLC6A5	11	20648387	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	18692238	20648387	114358129	56	15335											
CHST1	8534	broad.mit.edu	37	11	45671489	45671489	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:45671489C>T	uc021qgn.1	-	0	985	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CHST1_uc001mys.2_Missense_Mutation_p.A329T	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	329					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ATCCAGCGGGCCACGTGGCTG	0.632													T	45671489	C	T	45671489	3	4	223	1	0	0	0	0	1	0	0	0	3397	739	26	3	254	3	CHST1	11	45671489	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	25023102	45671489	89335027	57	15336											
TCN1	6947	broad.mit.edu	37	11	59629106	59629106	+	Missense_Mutation	SNP	G	G	C	rs139772818	by1000genomes	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:59629106G>C	uc001noj.2	-	3	548	c.450C>G	c.(448-450)gaC>gaG	p.D150E		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	150					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			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)	AGGCCAAAACGTCCAGGCTGA	0.438													C	59629106	G	C	59629106	3	2	223	1	0	0	0	0	1	0	0	0	15703	1136	40	5	875	5	TCN1	11	59629106	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	13957617	59629106	75377410	58	15337											
KDELC2	143888	broad.mit.edu	37	11	108352840	108352840	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:108352840G>C	uc001pkj.2	-	3	860	c.794C>G	c.(793-795)tCt>tGt	p.S265C	KDELC2_uc001pki.2_Missense_Mutation_p.S209C	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	265						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGAATCCAGAGAGCCACACCA	0.453													C	108352840	G	C	108352840	3	2	223	1	0	0	0	0	1	0	0	0	8118	942	33	5	749	5	KDELC2	11	108352840	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	48723734	108352840	26653676	59	15338											
AMICA1	120425	broad.mit.edu	37	11	118085599	118085599	+	Translation_Start_Site	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:118085599A>T	uc001psk.2	-	1					AMICA1_uc001psh.2_5'Flank|AMICA1_uc009yzw.1_5'Flank|AMICA1_uc001psi.2_5'Flank|AMICA1_uc010rxw.1_Intron|AMICA1_uc010rxx.1_5'UTR|AMICA1_uc001psl.1_5'Flank	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.						blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		TCAACTTTCAAATCTTAAGAT	0.393													T	118085599	A	T	118085599	1	4	223	1	0	0	0	0	0	0	0	0	574	29	1	5		5	AMICA1	11	118085599	Translation_Start_Site	SNP	A	TCGA-32-1979-01A-01D-1696-08	9732759	118085599	16920917	60	15339											
ALG10B	144245	broad.mit.edu	37	12	38714180	38714180	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:38714180G>A	uc001rln.4	+	2	726	c.587G>A	c.(586-588)tGt>tAt	p.C196Y		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	196					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGTCTTCTGTGCAGGGAAT	0.398													A	38714180	G	A	38714180	3	1	223	1	0	0	0	0	1	0	0	0	512	1377	48	3	597	3	ALG10B	12	38714180	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		38714180	95137715	61	15340											
MYO1A	4640	broad.mit.edu	37	12	57442017	57442017	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:57442017G>A	uc001smw.4	-	1	331	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYO1A_uc010sqz.2_5'Flank|MYO1A_uc009zpd.3_Missense_Mutation_p.R31C	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	31	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTTTCATAGCGAAGCTGAAGA	0.542													A	57442017	G	A	57442017	3	1	223	1	0	0	0	0	1	0	0	0	10068	1058	37	2	3148	2	MYO1A	12	57442017	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	18727837	57442017	76409878	62	15341											
SLC17A8	246213	broad.mit.edu	37	12	100787226	100787226	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:100787226G>A	uc010svi.2	+	3	866	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	SLC17A8_uc009ztx.3_Missense_Mutation_p.V185I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	185					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.C184C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTACGGATGCGTCATGTGTGT	0.448													A	100787226	G	A	100787226	3	1	223	1	0	0	0	0	1	0	0	0	14423	1145	40	1	567	1	SLC17A8	12	100787226	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	43345209	100787226	33064669	63	15342											
CLEC14A	161198	broad.mit.edu	37	14	38724727	38724727	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:38724727G>A	uc001wum.1	-	0	848	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	167	C-type lectin.					integral to membrane	sugar binding	p.N167N(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682													A	38724727	G	A	38724727	2	1	223	1	0	0	0	0	0	0	0	1	3499	1136	40	1		1	CLEC14A	14	38724727	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		38724727	68624813	64	15343											
SOS2	6655	broad.mit.edu	37	14	50626273	50626273	+	Silent	SNP	T	T	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:50626273T>C	uc001wxs.4	-	9	1826	c.1728A>G	c.(1726-1728)gtA>gtG	p.V576V	SOS2_uc010tql.2_Silent_p.V543V|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Silent_p.V264V	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	576					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTCTTTTACTACAAAACGAT	0.333													C	50626273	T	C	50626273	2	2	223	1	0	0	0	0	0	0	0	1	14937	1509	53	4		4	SOS2	14	50626273	Silent	SNP	T	TCGA-32-1979-01A-01D-1696-08	11901546	50626273	56723267	65	15344											
KIF26A	26153	broad.mit.edu	37	14	104639702	104639702	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:104639702C>T	uc001yos.4	+	8	1719	c.1719C>T	c.(1717-1719)gcC>gcT	p.A573A		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	573	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CACCCACGGCCGAGAAGGCGG	0.692													T	104639702	C	T	104639702	2	4	223	1	0	0	0	0	0	0	0	1	8294	639	23	2		2	KIF26A	14	104639702	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	54013429	104639702	2709838	66	15345											
SH3GL3	6457	broad.mit.edu	37	15	84237359	84237359	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:84237359C>T	uc002bjw.3	+	3	461	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SH3GL3_uc010uot.1_Missense_Mutation_p.T89M|SH3GL3_uc002bjx.3_Missense_Mutation_p.T20M|SH3GL3_uc002bju.3_Missense_Mutation_p.T97M|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	89	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TACCCGCAGACGGAAGGCTTG	0.507													T	84237359	C	T	84237359	3	4	223	1	0	0	0	0	1	0	0	0	14252	536	19	1	280	1	SH3GL3	15	84237359	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		84237359	18294033	67	15346											
UNC45A	55898	broad.mit.edu	37	15	91483616	91483616	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:91483616G>C	uc002bqg.3	+	5	940	c.600G>C	c.(598-600)ttG>ttC	p.L200F	UNC45A_uc002bqd.3_Missense_Mutation_p.L185F|UNC45A_uc010uqo.1_Missense_Mutation_p.L192F|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Missense_Mutation_p.L200F	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	200					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTCAGCTCTTGCAACGTTTAC	0.567													C	91483616	G	C	91483616	3	2	223	1	0	0	0	0	1	0	0	0	16985	1310	46	5	622	5	UNC45A	15	91483616	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	7246257	91483616	11047776	68	15347											
SEZ6L2	26470	broad.mit.edu	37	16	29884701	29884701	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr16:29884701G>A	uc010vec.2	-	13	2593	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.T713M|SEZ6L2_uc002dur.4_Missense_Mutation_p.T713M|SEZ6L2_uc002duq.4_Missense_Mutation_p.T783M|SEZ6L2_uc010ved.2_Missense_Mutation_p.T739M|SEZ6L2_uc002dus.4_Missense_Mutation_p.T669M	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	783	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGTACAGCGTCTGGTAGCC	0.622													A	29884701	G	A	29884701	3	1	223	1	0	0	0	0	1	0	0	0	14144	1145	40	1	443	1	SEZ6L2	16	29884701	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		29884701	60470052	69	15348											
MYH1	4619	broad.mit.edu	37	17	10406199	10406199	+	Silent	SNP	C	C	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:10406199C>A	uc002gmo.3	-	23	3061	c.2967G>T	c.(2965-2967)ctG>ctT	p.L989L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	989						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTTTCATCCAGACCCGCCA	0.507													A	10406199	C	A	10406199	2	1	223	1	0	0	0	0	0	0	0	1	10029	581	21	5		5	MYH1	17	10406199	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08		10406199	70789011	70	15349											
SLFN13	146857	broad.mit.edu	37	17	33767745	33767745	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:33767745G>A	uc002hjk.1	-	3	2893	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	SLFN13_uc010wch.1_Missense_Mutation_p.R855W|SLFN13_uc002hjl.2_Missense_Mutation_p.R855W|SLFN13_uc002hjm.2_Missense_Mutation_p.R524W|SLFN13_uc010ctt.2_Missense_Mutation_p.R537W	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	855						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGAATCGCCGGACACTGTCC	0.483													A	33767745	G	A	33767745	3	1	223	1	0	0	0	0	1	0	0	0	14736	1115	39	2	134	2	SLFN13	17	33767745	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	23361546	33767745	47427465	71	15350											
KRTAP1-3	81850	broad.mit.edu	37	17	39190659	39190659	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:39190659C>T	uc002hvv.3	-	0	449	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	149				TP -> HT (in Ref. 1; CAA44938).		extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGGCCTCGGCGTGGTGCAGC	0.652													T	39190659	C	T	39190659	3	4	223	1	0	0	0	0	1	0	0	0	8503	768	27	1	92	1	KRTAP1-3	17	39190659	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	5422914	39190659	42004551	72	15351											
OR4D2	124538	broad.mit.edu	37	17	56247206	56247206	+	Nonsense_Mutation	SNP	C	C	T	rs148589207		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:56247206C>T	uc010wnp.2	+	0	190	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTTTCTGCTCCGAAACCTGGC	0.483													T	56247206	C	T	56247206	4	4	223	1	0	0	0	0	0	1	0	0	11056	644	23	2	192	2	OR4D2	17	56247206	Nonsense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	17056547	56247206	24948004	73	15352											
EPB41L3	23136	broad.mit.edu	37	18	5395100	5395100	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:5395100A>G	uc002kmt.1	-	20	3205	c.3119T>C	c.(3118-3120)gTc>gCc	p.V1040A	EPB41L3_uc010wzh.1_Missense_Mutation_p.V871A|EPB41L3_uc002kmu.1_Missense_Mutation_p.V818A|EPB41L3_uc010dkq.1_Missense_Mutation_p.V709A|EPB41L3_uc002kms.1_Missense_Mutation_p.V275A|EPB41L3_uc010wze.1_Missense_Mutation_p.V345A|EPB41L3_uc010wzf.1_Missense_Mutation_p.V337A|EPB41L3_uc010wzg.1_Missense_Mutation_p.V312A|EPB41L3_uc010dkr.2_Missense_Mutation_p.V432A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1040	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCCGTGATGACTATTCGCTT	0.448													G	5395100	A	G	5395100	3	3	223	1	0	0	0	0	1	0	0	0	5154	275	10	4	152	4	EPB41L3	18	5395100	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08		5395100	72682148	74	15353											
MC5R	4161	broad.mit.edu	37	18	13826447	13826447	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:13826447C>T	uc010xaf.2	+	0	905	c.683C>T	c.(682-684)gCg>gTg	p.A228V		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	228				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.A228T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCCAGCTCTGCGCGGCAGAGG	0.612													T	13826447	C	T	13826447	3	4	223	1	0	0	0	0	1	0	0	0	9367	768	27	1	685	1	MC5R	18	13826447	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	8431347	13826447	64250801	75	15354											
CDH19	28513	broad.mit.edu	37	18	64218345	64218345	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:64218345G>A	uc002lkc.1	-	4	899	c.761C>T	c.(760-762)cCt>cTt	p.P254L	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.P254L|CDH19_uc002lkd.3_Missense_Mutation_p.P254L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	254	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTAAATATAGGCTTATTGTC	0.294													A	64218345	G	A	64218345	3	1	223	1	0	0	0	0	1	0	0	0	3104	1000	35	3	1589	3	CDH19	18	64218345	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	50391898	64218345	13858903	76	15355											
NFIX	4784	broad.mit.edu	37	19	13189498	13189498	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:13189498C>T	uc010xmx.2	+	6	1104	c.1051C>T	c.(1051-1053)Cgc>Tgc	p.R351C	NFIX_uc002mwd.3_Missense_Mutation_p.R343C|NFIX_uc002mwe.3_Missense_Mutation_p.R335C|NFIX_uc002mwf.3_Intron|NFIX_uc002mwg.2_Missense_Mutation_p.R342C			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	343					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CAGCTCCCCGCGCATGGCTTT	0.642													T	13189498	C	T	13189498	3	4	223	1	0	0	0	0	1	0	0	0	10374	768	27	1	1053	1	NFIX	19	13189498	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		13189498	45939485	77	15356											
CYP4F22	126410	broad.mit.edu	37	19	15648390	15648390	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:15648390C>T	uc002nbh.4	+	5	633	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	156						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R156L(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GAGCCGGCACCGTCGCCTGCT	0.542													T	15648390	C	T	15648390	3	4	223	1	0	0	0	0	1	0	0	0	4189	652	23	2	480	2	CYP4F22	19	15648390	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	2458892	15648390	43480593	78	15357											
UPF1	5976	broad.mit.edu	37	19	18968250	18968250	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:18968250G>A	uc002nkg.3	+	14	2398	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H	UPF1_uc002nkf.3_Missense_Mutation_p.R697H|UPF1_uc002nkh.3_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	708					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGCCCATCCGCCTGCAGGTC	0.642													A	18968250	G	A	18968250	3	1	223	1	0	0	0	0	1	0	0	0	17000	1087	38	1	2148	1	UPF1	19	18968250	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	3319860	18968250	40160733	79	15358											
ATP13A1	57130	broad.mit.edu	37	19	19758484	19758484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:19758484delC	uc002nnh.4	-	19	2745	c.2717delG	c.(2716-2718)ggcfs	p.G906fs	ATP13A1_uc002nne.3_Frame_Shift_Del_p.G46fs|ATP13A1_uc002nnf.4_Frame_Shift_Del_p.G274fs|ATP13A1_uc002nng.3_Frame_Shift_Del_p.G788fs	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	906					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTCTGATGCCACTGTTGCT	0.697													-	19758484	C	-	19758484	7	5	223	1	0	1	0	1	0	0	0	0	1123	739	26	0	925	0	ATP13A1	19	19758484	Frame_Shift_Del	DEL	C	TCGA-32-1979-01A-01D-1696-08	790234	19758484	39370499	80	15359											
ZNF676	163223	broad.mit.edu	37	19	22363727	22363727	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:22363727G>A	uc002nqs.1	-	2	1110	c.792C>T	c.(790-792)agC>agT	p.S264S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTGAGACGCTACTAAATC	0.398													A	22363727	G	A	22363727	2	1	223	1	0	0	0	0	0	0	0	1	18080	1078	38	1		1	ZNF676	19	22363727	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	2605243	22363727	36765256	81	15360											
FAM187B	148109	broad.mit.edu	37	19	35719014	35719014	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:35719014G>A	uc002nyk.1	-	0	615	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	190						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCCGCAAGCGGCTAGACCACA	0.577													A	35719014	G	A	35719014	2	1	223	1	0	0	0	0	0	0	0	1	5513	1194	42	3		3	FAM187B	19	35719014	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	13355287	35719014	23409969	82	15361											
RYR1	6261	broad.mit.edu	37	19	39051893	39051893	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:39051893C>T	uc002oit.3	+	89	12553	c.12423C>T	c.(12421-12423)aaC>aaT	p.N4141N	RYR1_uc002oiu.3_Silent_p.N4136N|RYR1_uc002oiv.1_Silent_p.N1050N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4141					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			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)	TCGGCTTCAACGTGGCGGTGC	0.592													T	39051893	C	T	39051893	2	4	223	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	39051893	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	3332879	39051893	20077090	83	15362											
CYP2B6	1555	broad.mit.edu	37	19	41512823	41512823	+	Silent	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:41512823C>T	uc002opr.1	+	3	505	c.498C>T	c.(496-498)gaC>gaT	p.D166D	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	166					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCCTCATGGACCCCACCTTCC	0.512													T	41512823	C	T	41512823	2	4	223	1	0	0	0	0	0	0	0	1	4164	506	18	3		3	CYP2B6	19	41512823	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	2460930	41512823	17616160	84	15363											
MYH14	79784	broad.mit.edu	37	19	50812362	50812362	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:50812362G>A	uc010enu.1	+	41	5935	c.5888G>A	c.(5887-5889)cGt>cAt	p.R1963H	MYH14_uc002prq.1_Missense_Mutation_p.R1930H|MYH14_uc002prr.1_Missense_Mutation_p.R1922H|MYH14_uc010ycb.2_Missense_Mutation_p.R273H|MYH14_uc002prs.1_Missense_Mutation_p.R273H	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1922					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGCTGCAGCGTGAGCTGGAA	0.632													A	50812362	G	A	50812362	3	1	223	1	0	0	0	0	1	0	0	0	10033	1145	40	1	6050	1	MYH14	19	50812362	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9299539	50812362	8316621	85	15364											
ZNF135	7694	broad.mit.edu	37	19	58579130	58579130	+	Silent	SNP	C	C	T	rs141591921		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:58579130C>T	uc002qrg.3	+	3	1353	c.1350C>T	c.(1348-1350)acC>acT	p.T450T	ZNF135_uc002qre.3_Silent_p.T426T|ZNF135_uc002qrf.3_Silent_p.T384T|ZNF135_uc010yhq.2_Silent_p.T438T|ZNF135_uc010yhr.2_Silent_p.T247T|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	438					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T426T(1)|p.T450T(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACTCCTGACCGAGCATCGGA	0.547													T	58579130	C	T	58579130	2	4	223	1	0	0	0	0	0	0	0	1	17722	639	23	2		2	ZNF135	19	58579130	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	7766768	58579130	549853	86	15365											
RSPO4	343637	broad.mit.edu	37	20	944738	944738	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:944738G>A	uc002wej.3	-	3	535	c.435C>T	c.(433-435)ggC>ggT	p.G145G	RSPO4_uc002wek.3_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	145	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding	p.G145G(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGCTCCAGCCGCCCCAGGGAC	0.652													A	944738	G	A	944738	2	1	223	1	0	0	0	0	0	0	0	1	13712	1074	38	1		1	RSPO4	20	944738	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		944738	62080782	87	15366											
FAM83C	128876	broad.mit.edu	37	20	33880014	33880014	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:33880014G>A	uc021wck.1	-	0	212	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	32								p.R32R(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAGCTCTCCCGCCACCACGGC	0.746													A	33880014	G	A	33880014	3	1	223	1	0	0	0	0	1	0	0	0	5635	1086	38	1	2165	1	FAM83C	20	33880014	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	32935276	33880014	29145506	88	15367											
HNF4A	3172	broad.mit.edu	37	20	43052742	43052742	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:43052742G>A	uc002xma.3	+	7	1066	c.977G>A	c.(976-978)cGc>cAc	p.R326H	HNF4A_uc002xlt.3_Missense_Mutation_p.R304H|HNF4A_uc002xlu.3_Missense_Mutation_p.R304H|HNF4A_uc002xlv.3_Missense_Mutation_p.R304H|HNF4A_uc002xly.3_Missense_Mutation_p.R326H|HNF4A_uc010ggq.3_Missense_Mutation_p.R319H|HNF4A_uc002xlz.3_Missense_Mutation_p.R326H	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	326					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATCAACGACCGCCAGTATGAC	0.582													A	43052742	G	A	43052742	3	1	223	1	0	0	0	0	1	0	0	0	7253	1087	38	1	1060	1	HNF4A	20	43052742	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9172728	43052742	19972778	89	15368											
SEMG2	6406	broad.mit.edu	37	20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:43837052C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.R372C|SEMG2_uc002xnj.2_Missense_Mutation_p.R312C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418													T	43837052	C	T	43837052	3	4	223	1	0	0	0	0	1	0	0	0	14045	536	19	1		1	SEMG2	20	43837052	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	784310	43837052	19188468	90	15369											
CBR1	873	broad.mit.edu	37	21	37442646	37442646	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:37442646G>A	uc002yvb.1	+	0	362	c.233G>A	c.(232-234)cGc>cAc	p.R78H	LOC100133286_uc011aea.1_Non-coding_Transcript|SETD4_uc002yva.3_Intron|CBR1_uc010gmx.1_Missense_Mutation_p.R78H|CBR1_uc010gmy.1_Missense_Mutation_p.R78H	NM_001757	NP_001748	P16152	CBR1_HUMAN	Homo sapiens carbonyl reductase 1 (CBR1), mRNA.	78					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding			endometrium(2)|kidney(3)	5					Acetohexamide(DB00414)|Lubiprostone(DB01046)	GACTTCCTGCGCAAGGAGTAC	0.672													A	37442646	G	A	37442646	3	1	223	1	0	0	0	0	1	0	0	0	2708	1087	38	1	235	1	CBR1	21	37442646	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		37442646	10687249	91	15370											
RIPK4	54101	broad.mit.edu	37	21	43161157	43161157	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:43161157G>A	uc002yzn.1	-	7	2244	c.2196C>T	c.(2194-2196)gaC>gaT	p.D732D		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	732						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCCCTGCTCGTCGAACAGGT	0.692													A	43161157	G	A	43161157	2	1	223	1	0	0	0	0	0	0	0	1	13383	1136	40	1		1	RIPK4	21	43161157	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	5718511	43161157	4968738	92	15371											
C21orf58	54058	broad.mit.edu	37	21	47738114	47738114	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:47738114C>A	uc002zjf.3	-	1	1254	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	C21orf58_uc002ziz.3_5'UTR|C21orf58_uc002zja.3_5'UTR|C21orf58_uc002zjc.3_5'UTR|C21orf58_uc011afx.2_5'UTR|C21orf58_uc010gqj.2_Non-coding_Transcript|C21orf58_uc002zjg.1_Non-coding_Transcript	NM_058180	NP_478060	P58505	CU058_HUMAN	Homo sapiens chromosome 21 open reading frame 58 (C21orf58), mRNA.	41										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCAGGGCGGGCCTTACCTCCT	0.652													A	47738114	C	A	47738114	3	1	223	1	0	0	0	0	1	0	0	0	2129	739	26	5	875	5	C21orf58	21	47738114	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	4576957	47738114	391781	93	15372											
DIP2A	23181	broad.mit.edu	37	21	47954567	47954567	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:47954567C>T	uc002zjo.2	+	12	1792	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	DIP2A_uc011afy.1_Missense_Mutation_p.R473W|DIP2A_uc011afz.1_Missense_Mutation_p.R533W|DIP2A_uc002zjl.3_Missense_Mutation_p.R537W|DIP2A_uc002zjm.3_Missense_Mutation_p.R537W|DIP2A_uc010gql.3_Missense_Mutation_p.R494W|DIP2A_uc002zjn.3_Missense_Mutation_p.R537W|DIP2A_uc002zjp.1_Missense_Mutation_p.R282W|Metazoa_SRP_uc021wkb.1_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	537					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCACAGTGCCGGGCTCTGAC	0.562													T	47954567	C	T	47954567	3	4	223	1	0	0	0	0	1	0	0	0	4527	643	23	2	1659	2	DIP2A	21	47954567	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	216453	47954567	175328	94	15373											
ZMYM3	9203	broad.mit.edu	37	X	70469493	70469493	+	Silent	SNP	G	G	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:70469493G>T	uc004dzh.2	-	6	1467	c.1288C>A	c.(1288-1290)Cgg>Agg	p.R430R	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.R430R|ZMYM3_uc004dzj.2_Silent_p.R430R|ZMYM3_uc011mpu.2_Silent_p.R161R|ZMYM3_uc004dzl.4_Silent_p.R430R	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	430					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.H429P(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCAGAGCCGGTGTACCACG	0.587													T	70469493	G	T	70469493	2	4	223	1	0	0	0	0	0	0	0	1	17698	1115	39	5		5	ZMYM3	23	70469493	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		70469493	84801067	95	15374											
COL4A6	1288	broad.mit.edu	37	X	107431199	107431199	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:107431199A>T	uc004enw.4	-	21	1752	c.1649T>A	c.(1648-1650)cTc>cAc	p.L550H	COL4A6_uc004env.4_Missense_Mutation_p.L549H|COL4A6_uc011msn.2_Missense_Mutation_p.L549H|COL4A6_uc010npk.3_Missense_Mutation_p.L549H	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	550	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.L549I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GATTGTACTGAGAATTGGTTC	0.512									Alport syndrome with Diffuse Leiomyomatosis				T	107431199	A	T	107431199	3	4	223	1	0	0	0	0	1	0	0	0	3695	304	11	5	3522	5	COL4A6	23	107431199	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	36961706	107431199	47839361	96	15375											
DCAF12L1	139170	broad.mit.edu	37	X	125685359	125685359	+	Silent	SNP	G	G	A			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:125685359G>A	uc022cds.1	-	0	1233	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	DCAF12L1_uc004eul.3_Silent_p.L411L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	411										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CATTGTGGTTGAGCCAGCCTC	0.552													A	125685359	G	A	125685359	2	1	223	1	0	0	0	0	0	0	0	1	4264	1277	45	3		3	DCAF12L1	23	125685359	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	18254160	125685359	29585201	97	15376											
USH2A	7399	broad.mit.edu	37	1	215820917	215820917	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr1:215820917T>C	uc001hku.1	-	66	15125	c.14738A>G	c.(14737-14739)aAc>aGc	p.N4913S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4913	Fibronectin type-III 34.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GCCCACCTCGTTGTGTGCCAC	0.532										HNSCC(13;0.011)			C	215820917	T	C	215820917	3	2	224	1	0	0	0	0	1	0	0	0	17033	1725	60	4	894	4	USH2A	1	215820917	Missense_Mutation	SNP	T	TCGA-32-1980-01A-01D-1696-08		215820917	33429704	1	15377											
TAF1A	9015	broad.mit.edu	37	1	222761835	222761835	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr1:222761835C>G	uc009xdz.2	-	1	280	c.71G>C	c.(70-72)aGt>aCt	p.S24T	TAF1A_uc001hni.2_5'UTR|TAF1A_uc001hnj.3_Missense_Mutation_p.S24T|TAF1A_uc010pur.2_Missense_Mutation_p.S24T	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	24					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCCTGCACCACTGAGCACAGA	0.373													G	222761835	C	G	222761835	3	3	224	1	0	0	0	0	1	0	0	0	15516	565	20	5	1321	5	TAF1A	1	222761835	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08	6940918	222761835	26488786	2	15378											
TTN	7273	broad.mit.edu	37	2	179640164	179640164	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr2:179640164C>G	uc021vsy.1	-	27	6652	c.6427G>C	c.(6427-6429)Gct>Cct	p.A2143P	TTN_uc021vsz.1_Missense_Mutation_p.A2097P|TTN_uc021vta.1_Missense_Mutation_p.A2097P|TTN_uc021vtb.1_Missense_Mutation_p.A2097P|TTN_uc002unb.2_Missense_Mutation_p.A2143P|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2143	Ig-like 10.						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)			GAGTCCTCAGCAGTCACATCT	0.443													G	179640164	C	G	179640164	3	3	224	1	0	0	0	0	1	0	0	0	16732	710	25	5	104901	5	TTN	2	179640164	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		179640164	63559209	3	15379											
BCL6	604	broad.mit.edu	37	3	187447774	187447774	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr3:187447774C>T	uc003frp.3	-	4	876	c.419G>A	c.(418-420)cGt>cAt	p.R140H	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R140H|BCL6_uc010hza.2_Missense_Mutation_p.R38H|BCL6_uc003frq.2_Missense_Mutation_p.R140H	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	140					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GAACTCTTCACGAGGAGGCTT	0.522			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								T	187447774	C	T	187447774	3	4	224	1	0	0	0	0	1	0	0	0	1376	536	19	1	1725	1	BCL6	3	187447774	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		187447774	10574656	4	15380											
REST	5978	broad.mit.edu	37	4	57777086	57777086	+	Silent	SNP	A	A	G			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:57777086A>G	uc003hch.3	+	1	629	c.282A>G	c.(280-282)gaA>gaG	p.E94E	REST_uc003hci.3_Silent_p.E94E|REST_uc003hcj.1_Silent_p.E94E|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	94	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAGGACTTGAAGAGTCTGCTG	0.458													G	57777086	A	G	57777086	2	3	224	1	0	0	0	0	0	0	0	1	13234	69	3	4		4	REST	4	57777086	Silent	SNP	A	TCGA-32-1980-01A-01D-1696-08		57777086	133377190	5	15381											
SPARCL1	8404	broad.mit.edu	37	4	88415064	88415064	+	Silent	SNP	T	T	C			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:88415064T>C	uc010ikm.3	-	4	1460	c.888A>G	c.(886-888)caA>caG	p.Q296Q	SPARCL1_uc011cdc.2_Silent_p.Q171Q|SPARCL1_uc003hqs.4_Silent_p.Q296Q|SPARCL1_uc011cdd.2_Silent_p.Q171Q	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	296					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTTACCCTCTTGACTCTGCC	0.418													C	88415064	T	C	88415064	2	2	224	1	0	0	0	0	0	0	0	1	14995	1606	56	4		4	SPARCL1	4	88415064	Silent	SNP	T	TCGA-32-1980-01A-01D-1696-08	30637978	88415064	102739212	6	15382											
FAT4	79633	broad.mit.edu	37	4	126337603	126337603	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:126337603G>A	uc003ifj.4	+	6	6844	c.6844_splice	c.e6-1	p.V2282_splice	FAT4_uc011cgp.2_Splice_Site_p.V580_splice	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2282	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						TGTTCTACAGGTGGTGGCAAG	0.368													A	126337603	G	A	126337603	3	1	224	1	0	0	0	0	1	0	0	0	5692	1275	44	3	6866	3	FAT4	4	126337603	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08	37922539	126337603	64816673	7	15383											
NHLRC1	378884	broad.mit.edu	37	6	18122155	18122155	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr6:18122155C>T	uc003ncl.1	-	0	697	c.683G>A	c.(682-684)gGg>gAg	p.G228E		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	228					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TACCACAATCCCATTCTGAGG	0.532													T	18122155	C	T	18122155	3	4	224	1	0	0	0	0	1	0	0	0	10405	623	22	3	508	3	NHLRC1	6	18122155	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		18122155	152992912	8	15384											
OR9A4	130075	broad.mit.edu	37	7	141619469	141619469	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr7:141619469C>T	uc003vwu.1	+	0	794	c.794C>T	c.(793-795)aCg>aTg	p.T265M		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCCAAGCAAACGCAGGCAGCT	0.478													T	141619469	C	T	141619469	3	4	224	1	0	0	0	0	1	0	0	0	11249	536	19	1	796	1	OR9A4	7	141619469	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		141619469	17519194	9	15385											
ZNF782	158431	broad.mit.edu	37	9	99581330	99581330	+	Silent	SNP	G	G	C			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr9:99581330G>C	uc004awp.1	-	5	1256	c.975C>G	c.(973-975)ctC>ctG	p.L325L	ZNF782_uc011lup.1_Silent_p.L193L	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGCACTGGGAGGGTTGAAT	0.398													C	99581330	G	C	99581330	2	2	224	1	0	0	0	0	0	0	0	1	18152	1161	41	5		5	ZNF782	9	99581330	Silent	SNP	G	TCGA-32-1980-01A-01D-1696-08		99581330	41632101	10	15386											
LGALS12	85329	broad.mit.edu	37	11	63273794	63273794	+	Translation_Start_Site	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr11:63273794C>T	uc001nxc.2	+	0					LGALS12_uc001nxa.2_5'UTR|LGALS12_uc001nxb.2_5'UTR|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.						apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGCATTAAAACGCTGCAGGTC	0.637													T	63273794	C	T	63273794	1	4	224	1	0	0	0	0	0	0	0	0	8739	551	19	1		1	LGALS12	11	63273794	Translation_Start_Site	SNP	C	TCGA-32-1980-01A-01D-1696-08		63273794	71732722	11	15387											
ARCN1	372	broad.mit.edu	37	11	118461139	118461139	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr11:118461139T>A	uc009zag.3	+	6	1227	c.1025T>A	c.(1024-1026)aTc>aAc	p.I342N	ARCN1_uc001ptq.3_Missense_Mutation_p.I301N|ARCN1_uc010ryg.2_Missense_Mutation_p.I213N	NM_001142281	NP_001135753	P48444	COPD_HUMAN	Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.	301	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CATGGCATGATCATGCTTAGG	0.393													A	118461139	T	A	118461139	3	1	224	1	0	0	0	0	1	0	0	0	842	1435	50	5	924	5	ARCN1	11	118461139	Missense_Mutation	SNP	T	TCGA-32-1980-01A-01D-1696-08	55187345	118461139	16545377	12	15388											
KIF21A	55605	broad.mit.edu	37	12	39716483	39716483	+	Missense_Mutation	SNP	T	T	C	rs147620197		TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr12:39716483T>C	uc001rly.3	-	26	4078	c.3658A>G	c.(3658-3660)Aag>Gag	p.K1220E	KIF21A_uc001rlv.3_Missense_Mutation_p.K225E|KIF21A_uc001rlw.3_Missense_Mutation_p.K537E|KIF21A_uc001rlx.3_Missense_Mutation_p.K1207E|KIF21A_uc001rlz.3_Missense_Mutation_p.K1184E|KIF21A_uc010skl.2_Missense_Mutation_p.K1200E	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1220					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCCTATCTTAGAAGGTAAG	0.398													C	39716483	T	C	39716483	3	2	224	1	0	0	0	0	1	0	0	0	8288	1763	61	4	1414	4	KIF21A	12	39716483	Missense_Mutation	SNP	T	TCGA-32-1980-01A-01D-1696-08		39716483	94135412	13	15389											
F10	2159	broad.mit.edu	37	13	113803697	113803697	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr13:113803697C>T	uc001vsx.3	+	7	1390	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	445	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCTGTGCCCGTAAGGGGAA	0.627													T	113803697	C	T	113803697	3	4	224	1	0	0	0	0	1	0	0	0	5336	652	23	2	1363	2	F10	13	113803697	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		113803697	1366181	14	15390											
CFL2	1073	broad.mit.edu	37	14	35182132	35182132	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr14:35182132G>A	uc001wsh.3	-	3	723	c.440C>T	c.(439-441)tCg>tTg	p.S147L	CFL2_uc001wsg.3_Missense_Mutation_p.S147L|CFL2_uc010tpn.1_Missense_Mutation_p.S130L|CFL2_uc001wsi.3_Non-coding_Transcript|CFL2_uc001wsj.3_Non-coding_Transcript	NM_138638	NP_001230574	Q9Y281	COF2_HUMAN	Homo sapiens cofilin 2 (muscle) (CFL2), transcript variant 2, mRNA.	147	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding	p.R146C(1)		breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		TCCAAGTGTCGAACGGTCCTT	0.338													A	35182132	G	A	35182132	3	1	224	1	0	0	0	0	1	0	0	0	3291	1059	37	2	64	2	CFL2	14	35182132	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08		35182132	72167408	15	15391											
NF1	4763	broad.mit.edu	37	17	29663349	29663349	+	Splice_Site	SNP	A	A	G			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr17:29663349A>G	uc002hgg.3	+	41	6390	c.6007_splice	c.e41-2	p.I2003_splice	NF1_uc002hgh.3_Splice_Site_p.I1982_splice|NF1_uc010cso.3_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2003					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCTTCAACTAGATTACAGAT	0.323			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29663349	A	G	29663349	5	3	224	1	0	0	0	0	0	0	1	0	10356	434	15	4	6228	4	NF1	17	29663349	Splice_Site	SNP	A	TCGA-32-1980-01A-01D-1696-08		29663349	51531861	16	15392											
MUC16	94025	broad.mit.edu	37	19	9075072	9075072	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:9075072G>A	uc002mkp.3	-	2	12578	c.12374C>T	c.(12373-12375)aCg>aTg	p.T4125M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4127	Ser-rich.|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						TCTCTGAGTCGTAGCCAGTGG	0.502													A	9075072	G	A	9075072	3	1	224	1	0	0	0	0	1	0	0	0	9973	1145	40	1	31477	1	MUC16	19	9075072	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08		9075072	50053911	17	15393											
YJEFN3	51079	broad.mit.edu	37	19	19645858	19645858	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:19645858G>A	uc002nmt.2	+	3	406	c.334G>A	c.(334-336)Gct>Act	p.A112T	YJEFN3_uc021uqv.1_3'UTR|YJEFN3_uc021uqw.1_Missense_Mutation_p.A111T|YJEFN3_uc010ecf.2_Missense_Mutation_p.A62T|YJEFN3_uc002nmu.2_Non-coding_Transcript	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	112	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						CCCGTTGCCCGCTCTCTCCCG	0.647													A	19645858	G	A	19645858	3	1	224	1	0	0	0	0	1	0	0	0	17481	1087	38	1	348	1	YJEFN3	19	19645858	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08	10570786	19645858	39483125	18	15394											
RPSA	388524	broad.mit.edu	37	19	24010412	24010412	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:24010412C>A	uc002nrn.3	+	3	872	c.449C>A	c.(448-450)aCa>aAa	p.T150K		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	150					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTGTGTAACACAGATTCTCCT	0.542													A	24010412	C	A	24010412	3	1	224	1	0	0	0	0	1	0	0	0	13663	493	17	5		5	RPSA	19	24010412	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08	4364554	24010412	35118571	19	15395											
NLRP4	147945	broad.mit.edu	37	19	56379119	56379119	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:56379119C>T	uc002qmd.4	+	5	2653	c.2231C>T	c.(2230-2232)gCt>gTt	p.A744V	NLRP4_uc002qmf.3_Missense_Mutation_p.A669V|NLRP4_uc010etf.3_Intron	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	744							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAGTCCTTGCTGGCCTTCTA	0.483													T	56379119	C	T	56379119	3	4	224	1	0	0	0	0	1	0	0	0	10479	797	28	3	2249	3	NLRP4	19	56379119	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08	32368707	56379119	2749864	20	15396											
PCNT	5116	broad.mit.edu	37	21	47845820	47845820	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr21:47845820G>A	uc002zji.4	+	32	7362	c.7255G>A	c.(7255-7257)Gag>Aag	p.E2419K	PCNT_uc002zjj.3_Missense_Mutation_p.E2301K	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2419					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCCAAGCGGCGAGCCACACCC	0.577													A	47845820	G	A	47845820	3	1	224	1	0	0	0	0	1	0	0	0	11590	1059	37	2	7385	2	PCNT	21	47845820	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08		47845820	284075	21	15397											
MACF1	23499	broad.mit.edu	37	1	39750772	39750772	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:39750772C>T	uc021olt.1	+	10	1216	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	MACF1_uc021ols.1_Silent_p.G388G|MACF1_uc001cdc.2_Silent_p.G388G|MACF1_uc001cda.1_Silent_p.G296G	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	388					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			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)			TTGAATTTGGCCGAATTAAAC	0.433													T	39750772	C	T	39750772	2	4	225	1	0	0	0	0	0	0	0	1	9144	726	26	3		3	MACF1	1	39750772	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		39750772	209499849	1	15398											
ANKRD34A	284615	broad.mit.edu	37	1	145473561	145473561	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:145473561G>A	uc021ouy.1	+	0	233	c.233G>A	c.(232-234)cGc>cAc	p.R78H	ANKRD34A_uc001enq.1_Missense_Mutation_p.R78H	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	78										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGATTAGGGCGCACGGCGCTC	0.706													A	145473561	G	A	145473561	3	1	225	1	0	0	0	0	1	0	0	0	662	1087	38	1	235	1	ANKRD34A	1	145473561	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	105722789	145473561	103777060	2	15399											
MTMR11	10903	broad.mit.edu	37	1	149901667	149901667	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:149901667T>C	uc001etl.4	-	15	2040	c.1789A>G	c.(1789-1791)Atc>Gtc	p.I597V	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.I525V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	597	Myotubularin phosphatase.						phosphatase activity	p.L597delL(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCAGAGGAGATAGCAGGTCGA	0.597													C	149901667	T	C	149901667	3	2	225	1	0	0	0	0	1	0	0	0	9940	1406	49	4	387	4	MTMR11	1	149901667	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	4428106	149901667	99348954	3	15400											
LYST	1130	broad.mit.edu	37	1	235993676	235993676	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:235993676G>A	uc001hxj.2	-	2	217	c.42C>T	c.(40-42)acC>acT	p.T14T	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.T14T|LYST_uc001hxm.3_Non-coding_Transcript|LYST_uc001hxn.1_Silent_p.T14T	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	14					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			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)			GGTTGACATCGGTCAGAAATT	0.458													A	235993676	G	A	235993676	2	1	225	1	0	0	0	0	0	0	0	1	9128	1103	39	2		2	LYST	1	235993676	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	86092009	235993676	13256945	4	15401											
OR2AK2	391191	broad.mit.edu	37	1	248128698	248128698	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:248128698G>A	uc010pzd.2	+	0	65	c.65G>A	c.(64-66)aGt>aAt	p.S22N	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S22R(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)			GGAAATCAAAGTTTTGGGACA	0.363													A	248128698	G	A	248128698	3	1	225	1	0	0	0	0	1	0	0	0	10986	1029	36	3	67	3	OR2AK2	1	248128698	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	12135022	248128698	1121923	5	15402											
OR2T33	391195	broad.mit.edu	37	1	248436720	248436720	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:248436720G>A	uc010pzi.2	-	0	397	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CAGCTCATGAGAGTGGGATAT	0.592													A	248436720	G	A	248436720	3	1	225	1	0	0	0	0	1	0	0	0	11024	942	33	3	568	3	OR2T33	1	248436720	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	308022	248436720	813901	6	15403											
TPO	7173	broad.mit.edu	37	2	1544411	1544411	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:1544411C>T	uc002qwr.3	+	15	2750	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G888G|TPO_uc002qwx.3_Silent_p.G831G|TPO_uc002qwu.3_Silent_p.G831G|TPO_uc010yio.2_Silent_p.G715G|TPO_uc010yip.2_Silent_p.G844G|TPO_uc002qwy.1_Silent_p.G184G|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	888					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.G888G(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGAGACAGGCGGAGGAACTC	0.642													T	1544411	C	T	1544411	2	4	225	1	0	0	0	0	0	0	0	1	16407	755	27	1		1	TPO	2	1544411	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		1544411	241654962	7	15404											
ALLC	55821	broad.mit.edu	37	2	3730599	3730599	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:3730599G>A	uc010ewt.3	+	6	607	c.446G>A	c.(445-447)gGc>gAc	p.G149D		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	168							allantoicase activity	p.S148S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CCTGCTTCCGGCCACAACTAT	0.438										HNSCC(21;0.051)			A	3730599	G	A	3730599	3	1	225	1	0	0	0	0	1	0	0	0	534	1203	42	3	468	3	ALLC	2	3730599	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	2186188	3730599	239468774	8	15405											
APOB	338	broad.mit.edu	37	2	21256280	21256280	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:21256280C>A	uc002red.3	-	8	1143	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	339	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTTTGCTCAGAGATGGTT	0.468													A	21256280	C	A	21256280	4	1	225	1	0	0	0	0	0	1	0	0	785	835	29	5	12760	5	APOB	2	21256280	Nonsense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	17525681	21256280	221943093	9	15406											
C2orf71	388939	broad.mit.edu	37	2	29294478	29294478	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:29294478C>T	uc002rmt.2	-	0	2650	c.2650G>A	c.(2650-2652)Gcc>Acc	p.A884T		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	884					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCACAGAGGCCCTCAGCTTT	0.657													T	29294478	C	T	29294478	3	4	225	1	0	0	0	0	1	0	0	0	2191	739	26	3	1224	3	C2orf71	2	29294478	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	8038198	29294478	213904895	10	15407											
AMMECR1L	83607	broad.mit.edu	37	2	128631538	128631538	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:128631538G>A	uc002tpl.3	-	2	522	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	AMMECR1L_uc002tpm.3_Missense_Mutation_p.R91W	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	91										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CCATTAGGCCGGGGAAGAGGG	0.547													A	128631538	G	A	128631538	3	1	225	1	0	0	0	0	1	0	0	0	579	1115	39	2	685	2	AMMECR1L	2	128631538	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	99337060	128631538	114567835	11	15408											
TTN	7273	broad.mit.edu	37	2	179457195	179457195	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:179457195T>G	uc021vsy.1	-	249	52058	c.51833A>C	c.(51832-51834)aAt>aCt	p.N17278T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N10973T|TTN_uc021vta.1_Missense_Mutation_p.N10906T|TTN_uc021vtb.1_Missense_Mutation_p.N10781T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18205	Fibronectin type-III 25.						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)			ATGGGCAGCATTACGAATTTC	0.378													G	179457195	T	G	179457195	3	3	225	1	0	0	0	0	1	0	0	0	16732	1493	52	5	48690	5	TTN	2	179457195	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	50825657	179457195	63742178	12	15409											
TTN	7273	broad.mit.edu	37	2	179476881	179476881	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:179476881C>T	uc021vsy.1	-	215	42778	c.42553G>A	c.(42553-42555)Gga>Aga	p.G14185R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G7880R|TTN_uc021vta.1_Missense_Mutation_p.G7813R|TTN_uc021vtb.1_Missense_Mutation_p.G7688R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15112	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V14184_T14185delVT(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)			TAGGGTGGTCCAGGAGTGGCT	0.428													T	179476881	C	T	179476881	3	4	225	1	0	0	0	0	1	0	0	0	16732	603	21	3	57820	3	TTN	2	179476881	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	19686	179476881	63722492	13	15410											
DNAH7	56171	broad.mit.edu	37	2	196681639	196681639	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:196681639C>T	uc002utj.4	-	50	9575	c.9474G>A	c.(9472-9474)tcG>tcA	p.S3158S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3158	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S3158L(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						TATTGCCTTCCGAAGATGAAA	0.323													T	196681639	C	T	196681639	2	4	225	1	0	0	0	0	0	0	0	1	4606	639	23	2		2	DNAH7	2	196681639	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	17204758	196681639	46517734	14	15411											
CHDH	55349	broad.mit.edu	37	3	53856599	53856599	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr3:53856599G>A	uc003dgz.3	-	3	1215	c.774C>T	c.(772-774)gcC>gcT	p.A258A		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	258					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CAAGCGTCTCGGCCTCGGCCT	0.632													A	53856599	G	A	53856599	2	1	225	1	0	0	0	0	0	0	0	1	3333	1103	39	2		2	CHDH	3	53856599	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08		53856599	144165831	15	15412											
SULT1B1	27284	broad.mit.edu	37	4	70615520	70615520	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:70615520C>G	uc003hen.3	-	3	592	c.294G>C	c.(292-294)gaG>gaC	p.E98D		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ATGGATTCTTCTCCAATTGTT	0.383													G	70615520	C	G	70615520	3	3	225	1	0	0	0	0	1	0	0	0	15373	912	32	5	616	5	SULT1B1	4	70615520	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		70615520	120538756	16	15413											
PRKG2	5593	broad.mit.edu	37	4	82074799	82074799	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:82074799T>C	uc003hmh.2	-	6	1003	c.990_splice	c.e6+1	p.K330_splice	PRKG2_uc011ccf.1_Splice_Site|PRKG2_uc011ccg.1_Splice_Site|PRKG2_uc011cch.1_Splice_Site_p.K330_splice	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	330					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AATAGTTACCTTTCCTTTTGC	0.333													C	82074799	T	C	82074799	3	2	225	1	0	0	0	0	1	0	0	0	12523	1623	56	4	1351	4	PRKG2	4	82074799	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	11459279	82074799	109079477	17	15414											
MMRN1	22915	broad.mit.edu	37	4	90874400	90874400	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:90874400A>G	uc003hst.3	+	7	3589	c.3518A>G	c.(3517-3519)gAg>gGg	p.E1173G	MMRN1_uc010iku.3_Missense_Mutation_p.E476G|MMRN1_uc011cds.2_Missense_Mutation_p.E915G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1173	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				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)		CTTGCATTTGAGTCTGAAAAT	0.368													G	90874400	A	G	90874400	3	3	225	1	0	0	0	0	1	0	0	0	9670	304	11	4	3548	4	MMRN1	4	90874400	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08	8799601	90874400	100279876	18	15415											
ZFP42	132625	broad.mit.edu	37	4	188924074	188924074	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:188924074C>T	uc003izh.1	+	3	521	c.113C>T	c.(112-114)gCg>gTg	p.A38V	ZFP42_uc003izi.1_Missense_Mutation_p.A38V|ZFP42_uc021xvm.1_Missense_Mutation_p.A38V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	38					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GACCTGCAGGCGGAAATAGAA	0.572													T	188924074	C	T	188924074	3	4	225	1	0	0	0	0	1	0	0	0	17647	768	27	1	115	1	ZFP42	4	188924074	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	98049674	188924074	2230202	19	15416											
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:188924640G>A	uc003izh.1	+	3	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_uc003izi.1_Missense_Mutation_p.V227I|ZFP42_uc021xvm.1_Missense_Mutation_p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	227					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502													A	188924640	G	A	188924640	3	1	225	1	0	0	0	0	1	0	0	0	17647	1145	40	1	681	1	ZFP42	4	188924640	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	566	188924640	2229636	20	15417											
ANKRA2	57763	broad.mit.edu	37	5	72857050	72857050	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:72857050G>A	uc003kcu.2	-	2	1012	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	Homo sapiens ankyrin repeat, family A (RFXANK-like), 2 (ANKRA2), mRNA.	118						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CTTTGTTGTAGAGGGGGTGTA	0.388													A	72857050	G	A	72857050	3	1	225	1	0	0	0	0	1	0	0	0	636	942	33	3	616	3	ANKRA2	5	72857050	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		72857050	108058210	21	15418											
PCDHAC2	56147	broad.mit.edu	37	5	140167547	140167547	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140167547G>A	uc003lhb.2	+	0	1672	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E558K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.672													A	140167547	G	A	140167547	3	1	225	1	0	0	0	0	1	0	0	0	11533	1059	37	2		2	PCDHAC2	5	140167547	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	67310497	140167547	40747713	22	15419											
PCDHAC2	56140	broad.mit.edu	37	5	140221381	140221381	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140221381G>A	uc003lhs.2	+	0	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D159N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	174	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCGTCCGATGCAGATGT	0.458													A	140221381	G	A	140221381	3	1	225	1	0	0	0	0	1	0	0	0	11533	1058	37	2		2	PCDHAC2	5	140221381	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	53834	140221381	40693879	23	15420											
PCDHGC5	8641	broad.mit.edu	37	5	140769126	140769126	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140769126C>T	uc003lkc.2	+	0	1675	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	563	Cadherin 5.				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)			CAATGCGCCACGGGTGCTGTA	0.662													T	140769126	C	T	140769126	3	4	225	1	0	0	0	0	1	0	0	0	11571	527	19	1		1	PCDHGC5	5	140769126	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	547745	140769126	40146134	24	15421											
SLC36A3	285641	broad.mit.edu	37	5	150672978	150672978	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:150672978G>A	uc003ltx.2	-	3	770	c.351C>T	c.(349-351)taC>taT	p.Y117Y	SLC36A3_uc003ltv.2_Silent_p.Y61Y|SLC36A3_uc003ltw.2_Silent_p.Y117Y	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	117						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCAAGGCCGTACATCGTGG	0.428													A	150672978	G	A	150672978	2	1	225	1	0	0	0	0	0	0	0	1	14595	1140	40	1		1	SLC36A3	5	150672978	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	9903852	150672978	30242282	25	15422											
ZNF193	7746	broad.mit.edu	37	6	28200919	28200919	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:28200919G>A	uc010jqz.2	+	4	1490	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	ZNF193_uc003nkr.2_Missense_Mutation_p.R383H|ZNF193_uc003nkq.2_Missense_Mutation_p.R383H	NM_001199479	NP_001186408	O15535	ZN193_HUMAN	Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA.	383					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|lung(5)|prostate(1)	8						AACCTCATTCGCCATCAGAAG	0.502													A	28200919	G	A	28200919	3	1	225	1	0	0	0	0	1	0	0	0	17754	1087	38	1	1158	1	ZNF193	6	28200919	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		28200919	142914148	26	15423											
EEF1A1	1915	broad.mit.edu	37	6	74228304	74228304	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:74228304C>T	uc003phi.3	-	4	1794	c.802G>A	c.(802-804)Gag>Aag	p.E268K	EEF1A1_uc003phj.3_Missense_Mutation_p.E268K|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	268						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCAGTCTCCACTCGGCCA	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	74228304	C	T	74228304	3	4	225	1	0	0	0	0	1	0	0	0	4923	864	30	3	598	3	EEF1A1	6	74228304	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	46027385	74228304	96886763	27	15424											
GPRC6A	222545	broad.mit.edu	37	6	117150029	117150031	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:117150029_117150031delACA	uc003pxj.1	-	0	168_170	c.146_148delTGT	c.(145-150)ttgtcc>tcc	p.L49del	GPRC6A_uc003pxk.1_In_Frame_Del_p.L49del|GPRC6A_uc003pxl.1_In_Frame_Del_p.L49del	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	49					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTTCTGAGGACAACATTTTTTC	0.443													-	117150031	ACA	-	117150029	7	5	225	1	0	1	0	1	0	0	0	0	6728	275	10	0	2656	0	GPRC6A	6	117150029	In_Frame_Del	DEL	ACA	TCGA-32-1982-01A-01D-1494-08	42921725	117150029	53965038	28	15425											
HBS1L	10767	broad.mit.edu	37	6	135318720	135318720	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:135318720G>C	uc003qez.2	-	5	821	c.614C>G	c.(613-615)tCt>tGt	p.S205C	HBS1L_uc003qey.2_Missense_Mutation_p.S41C|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.S41C|HBS1L_uc011eda.1_Missense_Mutation_p.S163C	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	205					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AACATCGGAAGAAGCAATGGC	0.443													C	135318720	G	C	135318720	3	2	225	1	0	0	0	0	1	0	0	0	6987	942	33	5	1492	5	HBS1L	6	135318720	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	18168691	135318720	35796347	29	15426											
BCLAF1	9774	broad.mit.edu	37	6	136582520	136582520	+	Silent	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:136582520T>C	uc003qgx.1	-	11	2893	c.2640A>G	c.(2638-2640)aaA>aaG	p.K880K	BCLAF1_uc011edb.1_Silent_p.K159K|BCLAF1_uc003qgy.1_Silent_p.K829K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.K878K|BCLAF1_uc003qgw.1_Silent_p.K707K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	880					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCTACCTGATTTTTTGAAGT	0.428													C	136582520	T	C	136582520	2	2	225	1	0	0	0	0	0	0	0	1	1383	1490	52	4		4	BCLAF1	6	136582520	Silent	SNP	T	TCGA-32-1982-01A-01D-1494-08	1263800	136582520	34532547	30	15427											
IFNGR1	3459	broad.mit.edu	37	6	137519737	137519737	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:137519737C>G	uc003qho.2	-	6	1004	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	IFNGR1_uc011edm.1_Missense_Mutation_p.E273Q	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	301					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TATTTTGATTCAGGTTTTGTC	0.393													G	137519737	C	G	137519737	3	3	225	1	0	0	0	0	1	0	0	0	7549	835	29	5	572	5	IFNGR1	6	137519737	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	937217	137519737	33595330	31	15428											
SYNE1	23345	broad.mit.edu	37	6	152831380	152831380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:152831380G>A	uc021zhb.1	-	5	752	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	SYNE1_uc003qot.4_Nonsense_Mutation_p.Q184*|SYNE1_uc003qou.4_Nonsense_Mutation_p.Q177*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q177*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.Q177*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	177	Actin-binding.				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			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)		GCATTTCCTTGGATCTTGGTG	0.453										HNSCC(10;0.0054)			A	152831380	G	A	152831380	4	1	225	1	0	0	0	0	0	1	0	0	15442	1357	47	3	26493	3	SYNE1	6	152831380	Nonsense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	15311643	152831380	18283687	32	15429											
MAP3K4	4216	broad.mit.edu	37	6	161527602	161527602	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:161527602G>A	uc003qtn.3	+	19	4055	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	MAP3K4_uc010kkc.1_Missense_Mutation_p.E1301K|MAP3K4_uc003qto.3_Missense_Mutation_p.E1255K|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.E758K|MAP3K4_uc003qtp.3_Missense_Mutation_p.E241K|MAP3K4_uc003qtq.3_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1305					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCGATTGTTTGAAGAAAAGAG	0.408													A	161527602	G	A	161527602	3	1	225	1	0	0	0	0	1	0	0	0	9252	1291	45	3	3991	3	MAP3K4	6	161527602	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	8696222	161527602	9587465	33	15430											
MAP3K4	4216	broad.mit.edu	37	6	161527656	161527656	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:161527656G>A	uc003qtn.3	+	19	4109	c.3967G>A	c.(3967-3969)Gat>Aat	p.D1323N	MAP3K4_uc010kkc.1_Missense_Mutation_p.D1319N|MAP3K4_uc003qto.3_Missense_Mutation_p.D1273N|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.D776N|MAP3K4_uc003qtp.3_Missense_Mutation_p.D259N|MAP3K4_uc003qtq.3_Missense_Mutation_p.D12N	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1323					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.T1323T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCAAGTTTGTGATACGCCTAA	0.398													A	161527656	G	A	161527656	3	1	225	1	0	0	0	0	1	0	0	0	9252	1290	45	3	4045	3	MAP3K4	6	161527656	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	54	161527656	9587411	34	15431											
ELMO1	9844	broad.mit.edu	37	7	37354483	37354483	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:37354483C>T	uc022abv.1	-	3	873	c.163G>A	c.(163-165)Gat>Aat	p.D55N	ELMO1_uc003tfk.2_Missense_Mutation_p.D55N|ELMO1_uc010kxg.2_Missense_Mutation_p.D55N	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	55					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTGAACTATCGGCATGCTGG	0.323													T	37354483	C	T	37354483	3	4	225	1	0	0	0	0	1	0	0	0	5065	884	31	2	2096	2	ELMO1	7	37354483	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		37354483	121784180	35	15432											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	225	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	17878560	55233043	103905620	36	15433											
RABL5	64792	broad.mit.edu	37	7	100959711	100959711	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:100959711C>A	uc003uyl.3	-	3	422	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F	RABL5_uc011kkk.2_Missense_Mutation_p.V30F|RABL5_uc011kkl.2_Missense_Mutation_p.V30F|RABL5_uc003uym.3_Missense_Mutation_p.V77F|RABL5_uc010lhw.3_Non-coding_Transcript|RABL5_uc011kkm.2_Missense_Mutation_p.V107F	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN	Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.	107							GTP binding	p.V107F(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					GGCTGTTGGACAAAGCAGGAA	0.502													A	100959711	C	A	100959711	3	1	225	1	0	0	0	0	1	0	0	0	12973	478	17	5	246	5	RABL5	7	100959711	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	45726668	100959711	58178952	37	15434											
SLC26A5	375611	broad.mit.edu	37	7	103050961	103050961	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:103050961G>A	uc003vbz.3	-	6	868	c.606C>T	c.(604-606)gcC>gcT	p.A202A	SLC26A5_uc003vbt.2_Silent_p.A202A|SLC26A5_uc003vbu.2_Silent_p.A202A|SLC26A5_uc003vbv.2_Silent_p.A202A|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.A202A	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	202					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.A202A(2)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TGAGATATATGGCCACAAATC	0.408													A	103050961	G	A	103050961	2	1	225	1	0	0	0	0	0	0	0	1	14520	1335	47	3		3	SLC26A5	7	103050961	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	2091250	103050961	56087702	38	15435											
NUP205	23165	broad.mit.edu	37	7	135304420	135304420	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:135304420G>T	uc003vsw.3	+	28	4244	c.4213G>T	c.(4213-4215)Gac>Tac	p.D1405Y		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1405					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			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						GAAACTGTTAGACTTCATTTT	0.303													T	135304420	G	T	135304420	3	4	225	1	0	0	0	0	1	0	0	0	10759	942	33	5	4327	5	NUP205	7	135304420	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	32253459	135304420	23834243	39	15436											
KEL	3792	broad.mit.edu	37	7	142650951	142650951	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:142650951G>A	uc003wcb.3	-	8	1227	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	339					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)					AATATTCCACGTCATGGACCA	0.537													A	142650951	G	A	142650951	2	1	225	1	0	0	0	0	0	0	0	1	8142	1136	40	1		1	KEL	7	142650951	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	7346531	142650951	16487712	40	15437											
ARHGEF35	445328	broad.mit.edu	37	7	143884178	143884178	+	Silent	SNP	G	G	A	rs140097295		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:143884178G>A	uc003wdz.2	-	1	1472	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	ARHGEF35_uc022aog.1_Silent_p.P433P	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.	433										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						TCTGAGTCCCGGGAATCTGAG	0.567													A	143884178	G	A	143884178	2	1	225	1	0	0	0	0	0	0	0	1	905	1103	39	2		2	ARHGEF35	7	143884178	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	1233227	143884178	15254485	41	15438											
ADAM28	10863	broad.mit.edu	37	8	24181418	24181418	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:24181418G>A	uc003xdy.3	+	8	875	c.792G>A	c.(790-792)aaG>aaA	p.K264K	ADAM28_uc003xdx.3_Silent_p.K264K|ADAM28_uc011kzz.2_Silent_p.K31K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	264	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATAAGATAAAGATAACCCCAA	0.383													A	24181418	G	A	24181418	2	1	225	1	0	0	0	0	0	0	0	1	246	933	33	3		3	ADAM28	8	24181418	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08		24181418	122182604	42	15439											
JPH1	56704	broad.mit.edu	37	8	75171695	75171695	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:75171695C>T	uc003yae.3	-	2	1223	c.1183G>A	c.(1183-1185)Gcg>Acg	p.A395T	JPH1_uc003yaf.3_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(2)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCCAGCGCGGCCTGGTCG	0.597													T	75171695	C	T	75171695	3	4	225	1	0	0	0	0	1	0	0	0	7960	768	27	1	814	1	JPH1	8	75171695	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	50990277	75171695	71192327	43	15440											
ENPP2	5168	broad.mit.edu	37	8	120629796	120629796	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:120629796G>A	uc003yos.2	-	5	573	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ENPP2_uc010mdd.2_Missense_Mutation_p.R163C|ENPP2_uc003yot.2_Missense_Mutation_p.R163C	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	163					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGAGGGCGAACAAACCTT	0.368													A	120629796	G	A	120629796	3	1	225	1	0	0	0	0	1	0	0	0	5130	1058	37	2	2423	2	ENPP2	8	120629796	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	45458101	120629796	25734226	44	15441											
TSNARE1	203062	broad.mit.edu	37	8	143310871	143310871	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:143310871T>C	uc003ywj.3	-	11	1558	c.1519A>G	c.(1519-1521)Atc>Gtc	p.I507V	TSNARE1_uc011lju.2_Missense_Mutation_p.I505V|TSNARE1_uc003ywk.3_Missense_Mutation_p.I506V	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	506	Poly-Ile.				vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGGCGATGATGATGATGATG	0.512													C	143310871	T	C	143310871	3	2	225	1	0	0	0	0	1	0	0	0	16627	1464	51	4	29	4	TSNARE1	8	143310871	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	22681075	143310871	3053151	45	15442											
EPB41L4B	54566	broad.mit.edu	37	9	112017853	112017853	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr9:112017853C>T	uc004bdz.1	-	10	1402	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_uc004bea.3_Silent_p.T369T	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	369	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.T369M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522													T	112017853	C	T	112017853	2	4	225	1	0	0	0	0	0	0	0	1	5156	755	27	1		1	EPB41L4B	9	112017853	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		112017853	29195578	46	15443											
ARHGAP21	57584	broad.mit.edu	37	10	24874106	24874106	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:24874106G>A	uc001isb.2	-	25	5599	c.5112C>T	c.(5110-5112)tcC>tcT	p.S1704S	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1703	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATTTTTTCCTGGAAAGAGTAT	0.393													A	24874106	G	A	24874106	2	1	225	1	0	0	0	0	0	0	0	1	871	1335	47	3		3	ARHGAP21	10	24874106	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08		24874106	110660641	47	15444											
CUL2	8453	broad.mit.edu	37	10	35299303	35299303	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:35299303A>T	uc010qer.2	-	20	2335	c.2231T>A	c.(2230-2232)cTg>cAg	p.L744Q	CUL2_uc021ppa.1_Missense_Mutation_p.L738Q|CUL2_uc009xma.3_Missense_Mutation_p.L594Q|CUL2_uc001ixv.3_Missense_Mutation_p.L725Q|CUL2_uc001ixw.3_Missense_Mutation_p.L725Q	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	725					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTGTCTATCAGAACTTCAAT	0.463													T	35299303	A	T	35299303	3	4	225	1	0	0	0	0	1	0	0	0	4055	188	7	5	67	5	CUL2	10	35299303	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08	10425197	35299303	100235444	48	15445											
ZNF37A	7587	broad.mit.edu	37	10	38404217	38404217	+	Silent	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:38404217G>T	uc001izk.3	+	7	1068	c.238_splice	c.e7+1	p.E80_splice	ZNF37A_uc001izl.3_Splice_Site_p.E80_splice|ZNF37A_uc001izm.3_Splice_Site_p.E80_splice	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	80						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAGTCATCTGGGTGAGTTAG	0.393													T	38404217	G	T	38404217	2	4	225	1	0	0	0	0	0	0	0	1	17869	1362	47	5		5	ZNF37A	10	38404217	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	3104914	38404217	97130530	49	15446											
LRRC18	474354	broad.mit.edu	37	10	50121795	50121795	+	Missense_Mutation	SNP	C	C	T	rs138127999		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:50121795C>T	uc001jhd.3	-	0	486	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.V136M	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	136						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTGGTGGGCACGCTGTCCAGG	0.602													T	50121795	C	T	50121795	3	4	225	1	0	0	0	0	1	0	0	0	8974	536	19	1	387	1	LRRC18	10	50121795	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	11717578	50121795	85412952	50	15447											
CHAT	1103	broad.mit.edu	37	10	50870733	50870733	+	Missense_Mutation	SNP	C	C	T	rs116097791	by1000genomes	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:50870733C>T	uc001jhz.2	+	13	2035	c.1882C>T	c.(1882-1884)Cgg>Tgg	p.R628W	CHAT_uc001jhv.1_Missense_Mutation_p.R510W|CHAT_uc001jhx.1_Missense_Mutation_p.R510W|CHAT_uc001jhy.1_Missense_Mutation_p.R510W|CHAT_uc001jia.2_Missense_Mutation_p.R546W|CHAT_uc010qgs.1_Missense_Mutation_p.R510W	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	628					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.L627V(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCTGGCACTGCGGGAGCTGGC	0.572													T	50870733	C	T	50870733	3	4	225	1	0	0	0	0	1	0	0	0	3313	759	27	1	1980	1	CHAT	10	50870733	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	748938	50870733	84664014	51	15448											
PTEN	5728	broad.mit.edu	37	10	89692829	89692829	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:89692829T>C	uc001kfb.3	+	4	1345	c.313T>C	c.(313-315)Tgt>Cgt	p.C105R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105W(4)|p.C105fs*2(3)|p.C105S(3)|p.Y27fs*1(2)|p.C105G(2)|p.C105Y(2)|p.C105R(2)|p.Y27_N212>Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAACCCTTTTGTGAAGATCT	0.378		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692829	T	C	89692829	3	2	225	1	0	0	0	0	1	0	0	0	12738	1812	63	4	331	4	PTEN	10	89692829	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	38822096	89692829	45841918	52	15449											
OR5T3	390154	broad.mit.edu	37	11	56020589	56020589	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr11:56020589C>T	uc010rjd.2	+	0	914	c.914C>T	c.(913-915)tCa>tTa	p.S305L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					ATCATAGTGTCAATATTTTAC	0.368													T	56020589	C	T	56020589	3	4	225	1	0	0	0	0	1	0	0	0	11183	838	29	3	916	3	OR5T3	11	56020589	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		56020589	78985927	53	15450											
ANO2	57101	broad.mit.edu	37	12	5724431	5724431	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:5724431G>A	uc001qnm.2	-	17	1921	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	622						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGATCAGGCGCTCTTCAAAA	0.458													A	5724431	G	A	5724431	3	1	225	1	0	0	0	0	1	0	0	0	697	1087	38	1	1183	1	ANO2	12	5724431	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		5724431	128127464	54	15451											
LRRK2	120892	broad.mit.edu	37	12	40689281	40689281	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:40689281G>A	uc001rmg.4	+	22	3052	c.2931G>A	c.(2929-2931)ctG>ctA	p.L977L	LRRK2_uc001rmh.1_Silent_p.L599L|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	977					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTCTTCTCTGGCTTCTGAGA	0.343													A	40689281	G	A	40689281	2	1	225	1	0	0	0	0	0	0	0	1	9033	1335	47	3		3	LRRK2	12	40689281	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	34964850	40689281	93162614	55	15452											
LRRIQ1	84125	broad.mit.edu	37	12	85460676	85460676	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:85460676G>T	uc001tac.3	+	10	2806	c.2695_splice	c.e10+1	p.G899_splice	LRRIQ1_uc021rbo.1_Splice_Site_p.G777_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	899										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)		TACTCGAATTGGTAAGAACAA	0.274													T	85460676	G	T	85460676	4	4	225	1	0	0	0	0	0	1	0	0	9029	1362	47	5	2729	5	LRRIQ1	12	85460676	Nonsense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	44771395	85460676	48391219	56	15453											
CHD8	57680	broad.mit.edu	37	14	21860669	21860673	+	Frame_Shift_Del	DEL	TTTGA	TTTGA	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:21860669_21860673delTTTGA	uc001war.2	-	32	6829_6833	c.6764_6768delTCAAA	c.(6763-6768)atcaaafs	p.I2255fs	CHD8_uc001was.2_Frame_Shift_Del_p.I1976fs|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2255					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGCTTACATCTTTGATTTGAACTGT	0.468													-	21860673	TTTGA	-	21860669	7	5	225	1	0	1	0	1	0	0	0	0	3331	1606	56	0	997	0	CHD8	14	21860669	Frame_Shift_Del	DEL	TTTGA	TCGA-32-1982-01A-01D-1494-08		21860669	85488871	57	15454											
MYH6	4624	broad.mit.edu	37	14	23869930	23869930	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:23869930G>A	uc001wjv.3	-	12	1469	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	MYH6_uc010akp.2_Silent_p.F466F	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	466	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGAAGATCTCGAAGCCAGCGA	0.552													A	23869930	G	A	23869930	2	1	225	1	0	0	0	0	0	0	0	1	10038	1049	37	2		2	MYH6	14	23869930	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	2009261	23869930	83479610	58	15455											
DICER1	23405	broad.mit.edu	37	14	95569923	95569923	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:95569923C>T	uc001ydw.2	-	21	4022	c.3810G>A	c.(3808-3810)gtG>gtA	p.V1270V	DICER1_uc010avh.1_Silent_p.V168V|DICER1_uc021sbc.1_Silent_p.V1270V|DICER1_uc001ydv.2_Silent_p.V1260V|DICER1_uc001ydx.2_Silent_p.V1270V|DICER1_uc001ydy.1_Silent_p.V122V|DICER1_uc021sbd.1_Silent_p.V552V	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1270					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCCCTTGAGCACTTGAATAG	0.468			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				T	95569923	C	T	95569923	2	4	225	1	0	0	0	0	0	0	0	1	4521	697	25	3		3	DICER1	14	95569923	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	71699993	95569923	11779617	59	15456											
RYR3	6263	broad.mit.edu	37	15	33895352	33895352	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:33895352G>A	uc001zhi.3	+	17	2021	c.1951G>A	c.(1951-1953)Gcg>Acg	p.A651T	RYR3_uc010bar.3_Missense_Mutation_p.A651T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	651	B30.2/SPRY 1.				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)		CCTGGGAGTCGCGGAGGGCTC	0.527													A	33895352	G	A	33895352	3	1	225	1	0	0	0	0	1	0	0	0	13770	1087	38	1	2021	1	RYR3	15	33895352	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		33895352	68636040	60	15457											
MFAP1	4236	broad.mit.edu	37	15	44105497	44105497	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:44105497C>G	uc001zth.1	-	4	860	c.676G>C	c.(676-678)Gag>Cag	p.E226Q		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	226						microfibril				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)		GCTTCCTGCTCCAGCTCCTTC	0.483													G	44105497	C	G	44105497	3	3	225	1	0	0	0	0	1	0	0	0	9513	864	30	5	663	5	MFAP1	15	44105497	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	10210145	44105497	58425895	61	15458											
STUB1	10273	broad.mit.edu	37	16	731823	731823	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:731823G>T	uc002cit.3	+	3	966	c.555G>T	c.(553-555)gaG>gaT	p.E185D	STUB1_uc002ciu.3_Missense_Mutation_p.E113D|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA.	185					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				GAAACCACGAGGGTGATGAGG	0.637													T	731823	G	T	731823	3	4	225	1	0	0	0	0	1	0	0	0	15334	991	35	5	569	5	STUB1	16	731823	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		731823	89622930	62	15459											
SEC14L5	9717	broad.mit.edu	37	16	5053502	5053502	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:5053502C>A	uc002cye.2	+	10	1410	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	410	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGGTTGAGGACAATTACCCAG	0.647													A	5053502	C	A	5053502	3	1	225	1	0	0	0	0	1	0	0	0	13985	477	17	5	1268	5	SEC14L5	16	5053502	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	4321679	5053502	85301251	63	15460											
SMG1	23049	broad.mit.edu	37	16	18875017	18875018	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:18875017_18875018delGT	uc002dfm.3	-	24	4012_4013	c.3649_3650delAC	c.(3649-3651)accfs	p.T1217fs	SMG1_uc010bwb.3_Frame_Shift_Del_p.T1077fs	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1217	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGCTACTGGTACTCTTTTTC	0.366													-	18875018	GT	-	18875017	7	5	225	1	0	1	0	1	0	0	0	0	14795	1261	44	0	7491	0	SMG1	16	18875017	Frame_Shift_Del	DEL	GT	TCGA-32-1982-01A-01D-1494-08	13821515	18875017	71479736	64	15461											
IL4R	3566	broad.mit.edu	37	16	27363906	27363906	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:27363906G>A	uc002don.3	+	6	801	c.559G>A	c.(559-561)Gca>Aca	p.A187T	IL4R_uc002dom.3_Missense_Mutation_p.A187T|IL4R_uc002dop.4_Missense_Mutation_p.A172T|IL4R_uc010bxy.3_Missense_Mutation_p.A187T|IL4R_uc002doo.3_Missense_Mutation_p.A27T	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	187	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTCCGCATCGCAGCCAGCAC	0.592													A	27363906	G	A	27363906	3	1	225	1	0	0	0	0	1	0	0	0	7698	1087	38	1	577	1	IL4R	16	27363906	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	8488889	27363906	62990847	65	15462											
MT1E	4493	broad.mit.edu	37	16	56660826	56660826	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:56660826G>A	uc002ejm.3	+	1					MT1A_uc002eji.3_Intron|MT1M_uc010vhe.2_Intron|MT1E_uc002ejl.3_Silent_p.K43K			P04732	MT1E_HUMAN	Homo sapiens metallothionein 1E (MT1E), mRNA.							cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										GCTGTGCCAAGTGTGCCCAGG	0.597													A	56660826	G	A	56660826	2	1	225	1	0	0	0	0	0	0	0	1	9899	1020	36	3		3	MT1E	16	56660826	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	29296920	56660826	33693927	66	15463											
SETD6	79918	broad.mit.edu	37	16	58552049	58552049	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:58552049T>C	uc002ens.3	+	5	946	c.887T>C	c.(886-888)aTg>aCg	p.M296T	SETD6_uc021tjh.1_3'UTR|SETD6_uc002enr.3_Missense_Mutation_p.M272T|SETD6_uc010cdm.3_Non-coding_Transcript	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	Homo sapiens SET domain containing 6 (SETD6), transcript variant 1, mRNA.	296					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CTGATTCATATGTACGGTTTT	0.448													C	58552049	T	C	58552049	3	2	225	1	0	0	0	0	1	0	0	0	14135	1464	51	4	909	4	SETD6	16	58552049	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	1891223	58552049	31802704	67	15464											
ATP6V0D1	9114	broad.mit.edu	37	16	67477049	67477049	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:67477049C>T	uc010vjo.1	-	4	737	c.637G>A	c.(637-639)Gac>Aac	p.D213N	ATP6V0D1_uc002ete.1_Missense_Mutation_p.D172N|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.D95N	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	172					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TCGTCAAGGTCCTGCTCTGAA	0.562													T	67477049	C	T	67477049	3	4	225	1	0	0	0	0	1	0	0	0	1173	855	30	3	561	3	ATP6V0D1	16	67477049	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	8925000	67477049	22877704	68	15465											
CDH1	999	broad.mit.edu	37	16	68855965	68855965	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:68855965C>T	uc002ewg.1	+	11	1897	c.1773C>T	c.(1771-1773)aaC>aaT	p.N591N	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Silent_p.N530N	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	591	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGAATGACAACGCCCCCATAC	0.458			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				T	68855965	C	T	68855965	2	4	225	1	0	0	0	0	0	0	0	1	3095	535	19	1		1	CDH1	16	68855965	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	1378916	68855965	21498788	69	15466											
DNAH2	146754	broad.mit.edu	37	17	7663139	7663139	+	Missense_Mutation	SNP	G	G	A	rs112194246		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:7663139G>A	uc002giu.1	+	15	2682	c.2668G>A	c.(2668-2670)Gca>Aca	p.A890T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	890	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGACTTTGGCAGGTGTGGT	0.522													A	7663139	G	A	7663139	3	1	225	1	0	0	0	0	1	0	0	0	4602	1203	42	3	2730	3	DNAH2	17	7663139	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		7663139	73532071	70	15467											
ZNF624	57547	broad.mit.edu	37	17	16526500	16526500	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:16526500C>T	uc010cpi.2	-	5	1792	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H	ZNF624_uc021tre.1_Missense_Mutation_p.R441H	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGAAGAAGAACGCATGAAGGC	0.368													T	16526500	C	T	16526500	3	4	225	1	0	0	0	0	1	0	0	0	18045	536	19	1	901	1	ZNF624	17	16526500	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	8863361	16526500	64668710	71	15468											
RAD51C	5889	broad.mit.edu	37	17	56772380	56772380	+	Silent	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:56772380A>G	uc002iwu.3	+	1	276	c.234A>G	c.(232-234)acA>acG	p.T78T	TEX14_uc010dcz.2_5'Flank|TEX14_uc002iwr.2_5'Flank|TEX14_uc002iws.2_5'Flank|TEX14_uc010dda.2_5'Flank|RAD51C_uc002iwt.1_Silent_p.T78T|RAD51C_uc010woa.1_Silent_p.T78T|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript|RAD51C_uc010wob.1_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	78					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGCTGGTACATCTGAGTCAC	0.398								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				G	56772380	A	G	56772380	2	3	225	1	0	0	0	0	0	0	0	1	12988	204	8	4		4	RAD51C	17	56772380	Silent	SNP	A	TCGA-32-1982-01A-01D-1494-08	40245880	56772380	24422830	72	15469											
ACE	1636	broad.mit.edu	37	17	61554654	61554654	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:61554654delG	uc002jau.2	+	0	233	c.199delG	c.(199-201)gccfs	p.A67fs	ACE_uc010wph.2_Frame_Shift_Del_p.A67fs|ACE_uc010wpi.2_Frame_Shift_Del_p.A67fs|ACE_uc010ddu.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	67	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGCGTGGCCGCCAGCTGGGC	0.726													-	61554654	G	-	61554654	7	5	225	1	0	1	0	1	0	0	0	0	136	1087	38	0	201	0	ACE	17	61554654	Frame_Shift_Del	DEL	G	TCGA-32-1982-01A-01D-1494-08	4782274	61554654	19640556	73	15470											
CTDP1	9150	broad.mit.edu	37	18	77457977	77457977	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr18:77457977A>G	uc002lnh.2	+	3	757	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	CTDP1_uc002lni.2_Missense_Mutation_p.M204V|CTDP1_uc010drd.2_Missense_Mutation_p.M204V|CTDP1_uc021ult.1_Missense_Mutation_p.M85V	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	204	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTGTCAGCAGATGTCGAATAA	0.493													G	77457977	A	G	77457977	3	3	225	1	0	0	0	0	1	0	0	0	4002	333	12	4	624	4	CTDP1	18	77457977	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08		77457977	619271	74	15471											
ATP8B3	148229	broad.mit.edu	37	19	1792112	1792112	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:1792112C>T	uc002ltw.3	-	18	2312	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q	ATP8B3_uc002ltv.3_Missense_Mutation_p.R646Q|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	693					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GCACAGTGTCCGCAGGGTCTC	0.677													T	1792112	C	T	1792112	3	4	225	1	0	0	0	0	1	0	0	0	1196	652	23	2	1898	2	ATP8B3	19	1792112	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		1792112	57336871	75	15472											
ADAMTS10	81794	broad.mit.edu	37	19	8668748	8668748	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:8668748G>A	uc002mkj.1	-	4	730	c.456C>T	c.(454-456)gaC>gaT	p.D152D	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	152					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTCTTCCTCGTCTGCCACGA	0.572													A	8668748	G	A	8668748	2	1	225	1	0	0	0	0	0	0	0	1	256	1136	40	1		1	ADAMTS10	19	8668748	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	6876636	8668748	50460235	76	15473											
MUC16	94025	broad.mit.edu	37	19	9058871	9058871	+	Silent	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:9058871G>T	uc002mkp.3	-	2	28779	c.28575C>A	c.(28573-28575)acC>acA	p.T9525T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9527	Ser-rich.|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						TAGCACTGGTGGTTTCCACAT	0.478													T	9058871	G	T	9058871	2	4	225	1	0	0	0	0	0	0	0	1	9973	1335	47	5		5	MUC16	19	9058871	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	390123	9058871	50070112	77	15474											
IL12RB1	3594	broad.mit.edu	37	19	18184347	18184347	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:18184347G>A	uc002nhx.1	-	8	934	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	IL12RB1_uc002nhw.1_Missense_Mutation_p.R255W|IL12RB1_uc010xqb.1_Missense_Mutation_p.R255W|IL12RB1_uc002nhy.3_Missense_Mutation_p.R255W	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	255	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGGGTCAGCCGCCTCCTCCCA	0.602													A	18184347	G	A	18184347	3	1	225	1	0	0	0	0	1	0	0	0	7626	1086	38	1	1394	1	IL12RB1	19	18184347	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	9125476	18184347	40944636	78	15475											
ZNF257	113835	broad.mit.edu	37	19	22271312	22271312	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:22271312G>A	uc010ecx.3	+	3	929	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ZNF257_uc010ecy.3_Missense_Mutation_p.E222K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATACTAGAGAGAAACCCTA	0.388													A	22271312	G	A	22271312	3	1	225	1	0	0	0	0	1	0	0	0	17797	943	33	3	774	3	ZNF257	19	22271312	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	4086965	22271312	36857671	79	15476											
MEIS3	56917	broad.mit.edu	37	19	47920129	47920129	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:47920129T>C	uc002pgq.3	-	2	586	c.520A>G	c.(520-522)Aca>Gca	p.T174A	MEIS3_uc002pgp.3_5'Flank|MEIS3_uc002pgr.3_5'UTR|MEIS3_uc002pgs.3_Missense_Mutation_p.T93A|MEIS3_uc002pgt.3_Missense_Mutation_p.T93A|MEIS3_uc010eld.3_Missense_Mutation_p.T93A|MEIS3_uc002pgw.3_3'UTR	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	93						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCAGGGGGTGTCCCCAGCCCA	0.632													C	47920129	T	C	47920129	3	2	225	1	0	0	0	0	1	0	0	0	9469	1667	58	4	1028	4	MEIS3	19	47920129	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	25648817	47920129	11208854	80	15477											
KLK6	5653	broad.mit.edu	37	19	51462468	51462468	+	Silent	SNP	G	G	A	rs148571626		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:51462468G>A	uc002puh.3	-	4	779	c.714C>T	c.(712-714)aaC>aaT	p.N238N	KLK6_uc010eoj.3_Missense_Mutation_p.T101M|KLK6_uc002pui.3_Silent_p.N229N|KLK6_uc002puj.3_Silent_p.N122N|KLK6_uc010ycn.2_Silent_p.N122N|KLK6_uc002pul.3_Silent_p.N229N|KLK6_uc002pum.3_Silent_p.N122N	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	229	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATCTGCAGACGTTGGTGTAGA	0.547													A	51462468	G	A	51462468	2	1	225	1	0	0	0	0	0	0	0	1	8408	1136	40	1		1	KLK6	19	51462468	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	3542339	51462468	7666515	81	15478											
NLRP13	126204	broad.mit.edu	37	19	56423179	56423179	+	Silent	SNP	G	G	A	rs140606375	byFrequency	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:56423179G>A	uc010ygg.2	-	4	2029	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	668							ATP binding			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)		GGAGTTCTTCGTCCTCCAAAA	0.408													A	56423179	G	A	56423179	2	1	225	1	0	0	0	0	0	0	0	1	10475	1136	40	1		1	NLRP13	19	56423179	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	4960711	56423179	2705804	82	15479											
ZNF543	125919	broad.mit.edu	37	19	57840542	57840542	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:57840542C>T	uc002qoi.2	+	3	2069	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GTGGGAAGACCTTTTATGACT	0.418													T	57840542	C	T	57840542	3	4	225	1	0	0	0	0	1	0	0	0	17973	681	24	3	1726	3	ZNF543	19	57840542	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	1417363	57840542	1288441	83	15480											
JPH2	57158	broad.mit.edu	37	20	42788505	42788505	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr20:42788505G>A	uc002xli.1	-	1	1795	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	308					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCACTGGAGCGTTCGCTCACG	0.672													A	42788505	G	A	42788505	3	1	225	1	0	0	0	0	1	0	0	0	7961	1145	40	1	1184	1	JPH2	20	42788505	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		42788505	20237015	84	15481											
COL6A2	1292	broad.mit.edu	37	21	47545189	47545189	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr21:47545189G>A	uc002zia.1	+	23	1862	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I	COL6A2_uc002zhz.1_Missense_Mutation_p.V594I|COL6A2_uc002zhy.1_Missense_Mutation_p.V594I	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	594	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGTGTGACGTCATGACCTA	0.687													A	47545189	G	A	47545189	3	1	225	1	0	0	0	0	1	0	0	0	3700	1145	40	1	1870	1	COL6A2	21	47545189	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		47545189	584706	85	15482											
CABIN1	23523	broad.mit.edu	37	22	24561503	24561503	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr22:24561503A>G	uc002zzi.1	+	30	5043	c.4916A>G	c.(4915-4917)tAt>tGt	p.Y1639C	CABIN1_uc021wnc.1_Missense_Mutation_p.Y1589C|CABIN1_uc002zzj.1_Missense_Mutation_p.Y1560C|CABIN1_uc002zzl.2_Missense_Mutation_p.Y1639C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y64C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1639					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGCAGGAAGTATCTGCGAGAT	0.612													G	24561503	A	G	24561503	3	3	225	1	0	0	0	0	1	0	0	0	2528	449	16	4	5034	4	CABIN1	22	24561503	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08		24561503	26743063	86	15483											
CXorf59	286464	broad.mit.edu	37	X	36103536	36103536	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:36103536C>T	uc004ddk.1	+	4	708	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	174						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						ATGTGCTGCTCCATTTGAGTG	0.353													T	36103536	C	T	36103536	2	4	225	1	0	0	0	0	0	0	0	1	4115	842	30	3		3	CXorf59	23	36103536	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		36103536	119167024	87	15484											
HDAC6	10013	broad.mit.edu	37	X	48661362	48661362	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:48661362G>A	uc011mmi.1	+	2	273	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	HDAC6_uc004dkr.1_Missense_Mutation_p.G60S|HDAC6_uc004dks.1_Missense_Mutation_p.G60S|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.G60S|HDAC6_uc004dku.4_Missense_Mutation_p.G60S|HDAC6_uc011mmj.1_Missense_Mutation_p.G5S|HDAC6_uc011mmk.1_Missense_Mutation_p.G41S	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	60					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule 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)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAAGAAGCTCGGCCAAGCAAT	0.488													A	48661362	G	A	48661362	3	1	225	1	0	0	0	0	1	0	0	0	7011	1116	39	2	184	2	HDAC6	23	48661362	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	12557826	48661362	106609198	88	15485											
SMC1A	8243	broad.mit.edu	37	X	53439144	53439144	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:53439144G>T	uc004dsg.3	-	5	983	c.914C>A	c.(913-915)aCc>aAc	p.T305N	SMC1A_uc011moe.2_Missense_Mutation_p.T283N|SMC1A_uc011mof.2_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	305					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTTGTGGGAGGTGTTCTCCTT	0.498													T	53439144	G	T	53439144	3	4	225	1	0	0	0	0	1	0	0	0	14781	1261	44	5	2867	5	SMC1A	23	53439144	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	4777782	53439144	101831416	89	15486											
TAF1	6872	broad.mit.edu	37	X	70627913	70627913	+	Silent	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:70627913C>T	uc004dzu.4	+	27	4344	c.4293C>T	c.(4291-4293)cgC>cgT	p.R1431R	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.R1452R|TAF1_uc004dzv.4_Silent_p.R605R|TAF1_uc010nld.1_Non-coding_Transcript|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1431	Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.R1431S(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAACACTCCGCGAAAACGTGC	0.443													T	70627913	C	T	70627913	2	4	225	1	0	0	0	0	0	0	0	1	15510	755	27	1		1	TAF1	23	70627913	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	17188769	70627913	84642647	90	15487											
PGK1	5230	broad.mit.edu	37	X	77378404	77378404	+	Silent	SNP	T	T	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:77378404T>A	uc004ecz.4	+	6	886	c.714T>A	c.(712-714)ggT>ggA	p.G238G	PGK1_uc011mqq.2_Silent_p.G210G	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	238					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TTATTGGTGGTGGAATGGCTT	0.398													A	77378404	T	A	77378404	2	1	225	1	0	0	0	0	0	0	0	1	11790	1683	59	5		5	PGK1	23	77378404	Silent	SNP	T	TCGA-32-1982-01A-01D-1494-08	6750491	77378404	77892156	91	15488											
RPA4	29935	broad.mit.edu	37	X	96139791	96139791	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:96139791C>T	uc004efv.4	+	0	885	c.482C>T	c.(481-483)aCg>aTg	p.T161M	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	161					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						ATTCTGGAAACGGTCAATGCA	0.458								Other identified genes with known or suspected DNA repair function					T	96139791	C	T	96139791	3	4	225	1	0	0	0	0	1	0	0	0	13539	536	19	1	484	1	RPA4	23	96139791	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	18761387	96139791	59130769	92	15489											
PCDH19	57526	broad.mit.edu	37	X	99662858	99662858	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:99662858G>A	uc010nmz.3	-	0	2414	c.738C>T	c.(736-738)agC>agT	p.S246S	PCDH19_uc004efw.4_Silent_p.S246S|PCDH19_uc004efx.4_Silent_p.S246S	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	246	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTTCTGGCACGCTCACCGCGT	0.617													A	99662858	G	A	99662858	2	1	225	1	0	0	0	0	0	0	0	1	11514	1078	38	1		1	PCDH19	23	99662858	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	3523067	99662858	55607702	93	15490											
MID2	11043	broad.mit.edu	37	X	107084402	107084402	+	Silent	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:107084402G>A	uc004enl.3	+	1	1080	c.507G>A	c.(505-507)acG>acA	p.T169T	MID2_uc004enk.3_Silent_p.T169T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	169						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCGGGCCACGCACCCCAACA	0.552													A	107084402	G	A	107084402	2	1	225	1	0	0	0	0	0	0	0	1	9578	1074	38	1		1	MID2	23	107084402	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	7421544	107084402	48186158	94	15491											
MAGEA6	4105	broad.mit.edu	37	X	151869622	151869622	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:151869622G>T	uc022chf.1	+	0	312	c.312G>T	c.(310-312)gaG>gaT	p.E104D	MAGEA6_uc004ffq.1_Missense_Mutation_p.E104D|MAGEA6_uc004ffr.1_Missense_Mutation_p.E104D	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	104							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGTCTGAGTTCCAAGCAG	0.547													T	151869622	G	T	151869622	3	4	225	1	0	0	0	0	1	0	0	0	9170	1020	36	5	314	5	MAGEA6	23	151869622	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	44785220	151869622	3400938	95	15492											
DKC1	1736	broad.mit.edu	37	X	154004585	154004585	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:154004585G>A	uc004fmm.3	+	13	1672	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	DKC1_uc010nvf.3_Missense_Mutation_p.E483K	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	488	Nuclear and nucleolar localization.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAGCGGGGCCGAGCCTGGAGA	0.532									Congenital Dyskeratosis				A	154004585	G	A	154004585	3	1	225	1	0	0	0	0	1	0	0	0	4542	1059	37	2	1516	2	DKC1	23	154004585	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	2134963	154004585	1265975	96	15493											
RPA2	6118	broad.mit.edu	37	1	28223599	28223599	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:28223599G>A	uc001bpe.1	-	5	724	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	RPA2_uc010ofp.1_Missense_Mutation_p.P52S	NM_002946	NP_002937	P15927	RFA2_HUMAN	Homo sapiens replication protein A2, 32kDa (RPA2), mRNA.	148					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCAGGGGCATGATCTTA	0.383								Direct reversal of damage;Nucleotide excision repair (NER)					A	28223599	G	A	28223599	3	1	226	1	0	0	0	0	1	0	0	0	13537	1203	42	3	386	3	RPA2	1	28223599	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		28223599	221027022	1	15494											
C8B	732	broad.mit.edu	37	1	57417728	57417728	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:57417728G>A	uc001cyp.3	-	4	726	c.659C>T	c.(658-660)aCg>aTg	p.T220M	C8B_uc010oon.2_Missense_Mutation_p.T158M|C8B_uc010ooo.2_Missense_Mutation_p.T168M	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	220	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCTGTGGCGTGTAGCTTTC	0.562													A	57417728	G	A	57417728	3	1	226	1	0	0	0	0	1	0	0	0	2417	1145	40	1	1148	1	C8B	1	57417728	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	29194129	57417728	191832893	2	15495											
SGIP1	84251	broad.mit.edu	37	1	67206953	67206953	+	Splice_Site	SNP	A	A	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:67206953A>T	uc001dcr.3	+	24	2517	c.2300_splice	c.e24-2	p.G767_splice	SGIP1_uc010opd.2_Splice_Site_p.G367_splice|SGIP1_uc001dcs.3_Splice_Site_p.G367_splice|SGIP1_uc001dct.3_Splice_Site_p.G369_splice|SGIP1_uc009wat.3_Splice_Site_p.G561_splice|SGIP1_uc001dcu.3_Splice_Site_p.G272_splice	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	767					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTTTTTTTTTAGGGGTGGGTT	0.373													T	67206953	A	T	67206953	5	4	226	1	0	0	0	0	0	0	1	0	14206	434	15	5	2392	5	SGIP1	1	67206953	Splice_Site	SNP	A	TCGA-32-1986-01A-01D-1494-08	9789225	67206953	182043668	3	15496											
TDRD10	126668	broad.mit.edu	37	1	154479756	154479756	+	Silent	SNP	G	G	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:154479756G>C	uc009wow.3	+	2	880	c.42G>C	c.(40-42)ctG>ctC	p.L14L	TDRD10_uc001ffd.3_Silent_p.L14L	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	14							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGATAAACTGTTTGGGAAGA	0.502													C	154479756	G	C	154479756	2	2	226	1	0	0	0	0	0	0	0	1	15728	1364	48	5		5	TDRD10	1	154479756	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	87272803	154479756	94770865	4	15497											
SLAMF7	57823	broad.mit.edu	37	1	160718192	160718192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:160718192C>A	uc001fwq.3	+	1	279	c.264C>A	c.(262-264)taC>taA	p.Y88*	SLAMF7_uc010pjn.2_Intron|SLAMF7_uc001fws.3_Intron|SLAMF7_uc001fwr.3_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjo.2_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	88					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGGAGGCTACTCCCTGAAGC	0.507													A	160718192	C	A	160718192	4	1	226	1	0	0	0	0	0	1	0	0	14369	576	20	5	270	5	SLAMF7	1	160718192	Nonsense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	6238436	160718192	88532429	5	15498											
USH2A	7399	broad.mit.edu	37	1	216052106	216052106	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:216052106C>A	uc001hku.1	-	42	8945	c.8558_splice	c.e42+1	p.R2853_splice		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2853	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		CTTCTCTTACCTCAAATTAGG	0.393										HNSCC(13;0.011)			A	216052106	C	A	216052106	3	1	226	1	0	0	0	0	1	0	0	0	17033	695	24	5	7174	5	USH2A	1	216052106	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	55333914	216052106	33198515	6	15499											
OBSCN	84033	broad.mit.edu	37	1	228444458	228444458	+	Silent	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:228444458G>A	uc009xez.1	+	14	4460	c.4416G>A	c.(4414-4416)gaG>gaA	p.E1472E	OBSCN_uc001hsn.3_Silent_p.E1472E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1472	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCAGACGGAGGTGATGTGGT	0.657													A	228444458	G	A	228444458	2	1	226	1	0	0	0	0	0	0	0	1	10812	991	35	3		3	OBSCN	1	228444458	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	12392352	228444458	20806163	7	15500											
MARCO	8685	broad.mit.edu	37	2	119732140	119732140	+	Silent	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr2:119732140G>A	uc002tln.1	+	6	745	c.613_splice	c.e6+1	p.G205_splice	MARCO_uc010yyf.1_Splice_Site_p.G127_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	205	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGGAGAGGCGGGTGAGTAGG	0.572													A	119732140	G	A	119732140	2	1	226	1	0	0	0	0	0	0	0	1	9311	1130	39	2		2	MARCO	2	119732140	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08		119732140	123467233	8	15501											
C2orf80	389073	broad.mit.edu	37	2	209036767	209036767	+	Silent	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr2:209036767C>T	uc002vcr.3	-	6	571	c.399G>A	c.(397-399)ttG>ttA	p.L133L		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	133										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CAAAGGGGTGCAAGGAGAGGC	0.478													T	209036767	C	T	209036767	2	4	226	1	0	0	0	0	0	0	0	1	2197	709	25	3		3	C2orf80	2	209036767	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08	89304627	209036767	34162606	9	15502											
RNF168	165918	broad.mit.edu	37	3	196214417	196214417	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr3:196214417T>G	uc003fwq.3	-	2	1006	c.411A>C	c.(409-411)gaA>gaC	p.E137D	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	137	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTTTGTTTTCTTCTTCCTCGC	0.433													G	196214417	T	G	196214417	3	3	226	1	0	0	0	0	1	0	0	0	13459	1606	56	5	1320	5	RNF168	3	196214417	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08		196214417	1808013	10	15503											
PPEF2	5470	broad.mit.edu	37	4	76811138	76811138	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:76811138G>A	uc003hix.3	-	4	746	c.389C>T	c.(388-390)gCc>gTc	p.A130V	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.A130V	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	130	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCTACCAGGGCAGTTGCATG	0.522													A	76811138	G	A	76811138	3	1	226	1	0	0	0	0	1	0	0	0	12308	1203	42	3	1924	3	PPEF2	4	76811138	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		76811138	114343138	11	15504											
FHDC1	85462	broad.mit.edu	37	4	153897134	153897134	+	Silent	SNP	A	A	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:153897134A>G	uc003inf.2	+	10	2766	c.2691A>G	c.(2689-2691)tcA>tcG	p.S897S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	897					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGACCGCCTCAGAGAACGAGA	0.692													G	153897134	A	G	153897134	2	3	226	1	0	0	0	0	0	0	0	1	5876	175	7	4		4	FHDC1	4	153897134	Silent	SNP	A	TCGA-32-1986-01A-01D-1494-08	77085996	153897134	37257142	12	15505											
FSTL5	56884	broad.mit.edu	37	4	162680612	162680614	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:162680612_162680614delATC	uc003iqh.3	-	5	1112_1114	c.676_678delGAT	c.(676-678)gatdel	p.D226del	FSTL5_uc003iqi.3_In_Frame_Del_p.D225del|FSTL5_uc010iqv.3_In_Frame_Del_p.D225del	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	226	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGCATTAAAATCATCATATTTC	0.34													-	162680614	ATC	-	162680612	7	5	226	1	0	1	0	1	0	0	0	0	6080	98	4	0	1909	0	FSTL5	4	162680612	In_Frame_Del	DEL	ATC	TCGA-32-1986-01A-01D-1494-08	8783478	162680612	28473664	13	15506											
ADCY2	108	broad.mit.edu	37	5	7706894	7706894	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:7706894C>T	uc003jdz.1	+	7	1214	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	ADCY2_uc011cmo.1_Missense_Mutation_p.R203C	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	383					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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATCAACATGCGCGTGGGCGT	0.473													T	7706894	C	T	7706894	3	4	226	1	0	0	0	0	1	0	0	0	294	768	27	1	1177	1	ADCY2	5	7706894	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		7706894	173208366	14	15507											
C6	729	broad.mit.edu	37	5	41149449	41149449	+	Silent	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:41149449G>A	uc003jmk.2	-	16	2727	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	C6_uc003jml.1_Silent_p.D839D	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	839	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418													A	41149449	G	A	41149449	2	1	226	1	0	0	0	0	0	0	0	1	2315	1136	40	1		1	C6	5	41149449	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	33442555	41149449	139765811	15	15508											
CSF2	1437	broad.mit.edu	37	5	131409540	131409540	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:131409540delC	uc003kwf.3	+	0	56	c.24delC	c.(22-24)ctcfs	p.L8fs		NM_000758	NP_000749	P04141	CSF2_HUMAN	Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	8					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	GCCTGCTGCTCTTGGGCACTG	0.597													-	131409540	C	-	131409540	7	5	226	1	0	1	0	1	0	0	0	0	3933	900	32	0	26	0	CSF2	5	131409540	Frame_Shift_Del	DEL	C	TCGA-32-1986-01A-01D-1494-08	90260091	131409540	49505720	16	15509											
PCDHB7	56129	broad.mit.edu	37	5	140553608	140553608	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:140553608G>A	uc003lit.3	+	0	1366	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	398	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E398K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATCTGTCGAAAACTTCTA	0.493													A	140553608	G	A	140553608	3	1	226	1	0	0	0	0	1	0	0	0	11547	1059	37	2	1194	2	PCDHB7	5	140553608	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	9144068	140553608	40361652	17	15510											
GEMIN5	25929	broad.mit.edu	37	5	154311130	154311130	+	Silent	SNP	A	A	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:154311130A>G	uc003lvx.3	-	4	752	c.669T>C	c.(667-669)gcT>gcC	p.A223A	GEMIN5_uc011ddk.1_Silent_p.A222A	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	223					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGTAATTTCAGCTTCTTCTA	0.358													G	154311130	A	G	154311130	2	3	226	1	0	0	0	0	0	0	0	1	6331	175	7	4		4	GEMIN5	5	154311130	Silent	SNP	A	TCGA-32-1986-01A-01D-1494-08	13757522	154311130	26604130	18	15511											
GABRG2	2566	broad.mit.edu	37	5	161524703	161524703	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:161524703C>A	uc010jjc.3	+	3	745	c.387C>A	c.(385-387)aaC>aaA	p.N129K	GABRG2_uc003lyy.4_Missense_Mutation_p.N129K|GABRG2_uc003lyz.4_Missense_Mutation_p.N129K|GABRG2_uc011dej.2_Missense_Mutation_p.N34K	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	129					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGAAATTTAACAGCACCATTA	0.353													A	161524703	C	A	161524703	3	1	226	1	0	0	0	0	1	0	0	0	6172	477	17	5	401	5	GABRG2	5	161524703	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	7213573	161524703	19390557	19	15512											
ODZ2	57451	broad.mit.edu	37	5	167626105	167626105	+	Missense_Mutation	SNP	G	G	A	rs140215976	by1000genomes	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:167626105G>A	uc010jjd.3	+	15	3121	c.3121G>A	c.(3121-3123)Gtg>Atg	p.V1041M	ODZ2_uc003lzr.4_Missense_Mutation_p.V818M|ODZ2_uc003lzt.4_Missense_Mutation_p.V414M|ODZ2_uc010jje.3_Missense_Mutation_p.V312M	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.Q1040*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GAATCCCATCGTGCCTGAGAC	0.587													A	167626105	G	A	167626105	3	1	226	1	0	0	0	0	1	0	0	0	10835	1145	40	1	3183	1	ODZ2	5	167626105	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	6101402	167626105	13289155	20	15513											
ADAMTS2	9509	broad.mit.edu	37	5	178556986	178556986	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:178556986C>T	uc003mjw.3	-	15	2506	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	802	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTCTCCCGGCCGTCCTCGTCT	0.602													T	178556986	C	T	178556986	3	4	226	1	0	0	0	0	1	0	0	0	265	652	23	2	1259	2	ADAMTS2	5	178556986	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	10930881	178556986	2358274	21	15514											
PCLO	27445	broad.mit.edu	37	7	82764629	82764629	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:82764629T>C	uc003uhx.2	-	2	2526	c.2237A>G	c.(2236-2238)aAg>aGg	p.K746R	PCLO_uc003uhv.2_Missense_Mutation_p.K746R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	692	Pro-rich.				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						AACAGGGGCCTTGTCCTGCTC	0.512													C	82764629	T	C	82764629	3	2	226	1	0	0	0	0	1	0	0	0	11583	1609	56	4	13300	4	PCLO	7	82764629	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08		82764629	76374034	22	15515											
GRM3	2913	broad.mit.edu	37	7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:86415655C>T	uc003uid.3	+	2	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	GRM3_uc010lef.3_Missense_Mutation_p.R181C|GRM3_uc010leg.3_Missense_Mutation_p.R55C|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	183					synaptic transmission	integral to plasma membrane		p.R183C(2)|p.S182L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGATAAGTCGCGCTATGATTA	0.562													T	86415655	C	T	86415655	3	4	226	1	0	0	0	0	1	0	0	0	6798	768	27	1	553	1	GRM3	7	86415655	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	3651026	86415655	72723008	23	15516											
CALD1	800	broad.mit.edu	37	7	134552500	134552500	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:134552500C>T	uc003vrz.3	+	2	482	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	CALD1_uc003vry.3_Missense_Mutation_p.R6C|CALD1_uc003vsb.3_Missense_Mutation_p.R6C|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Missense_Mutation_p.R6C	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	6					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			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						TGATTTTGAGCGTCGCAGAGA	0.433													T	134552500	C	T	134552500	3	4	226	1	0	0	0	0	1	0	0	0	2581	768	27	1	18	1	CALD1	7	134552500	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	48136845	134552500	24586163	24	15517											
MGAM	8972	broad.mit.edu	37	7	141747587	141747587	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:141747587G>A	uc003vwy.3	+	21	2555	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	834	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R834Q(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCCACAGTCGAAAGAACCCT	0.413													A	141747587	G	A	141747587	3	1	226	1	0	0	0	0	1	0	0	0	9541	1058	37	2	2583	2	MGAM	7	141747587	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	7195087	141747587	17391076	25	15518											
AGAP3	116988	broad.mit.edu	37	7	150840450	150840450	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:150840450C>T	uc003wjg.1	+	16	2299	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	730					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGCTGGATACGGGCCAAGTA	0.622													T	150840450	C	T	150840450	3	4	226	1	0	0	0	0	1	0	0	0	369	527	19	1	2429	1	AGAP3	7	150840450	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	9092863	150840450	8298213	26	15519											
CDCA2	157313	broad.mit.edu	37	8	25319665	25319665	+	Missense_Mutation	SNP	C	C	T	rs142497699	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr8:25319665C>T	uc003xep.1	+	3	805	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.R110W|CDCA2_uc003xeq.1_Missense_Mutation_p.R95W	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	110					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTCATTGCTCGGCAGCAAAA	0.423													T	25319665	C	T	25319665	3	4	226	1	0	0	0	0	1	0	0	0	3086	875	31	2	338	2	CDCA2	8	25319665	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		25319665	121044357	27	15520											
CUBN	8029	broad.mit.edu	37	10	16870839	16870839	+	Missense_Mutation	SNP	C	C	T	rs139051724		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr10:16870839C>T	uc001ioo.3	-	65	10781	c.10729G>A	c.(10729-10731)Gcc>Acc	p.A3577T		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3577	CUB 27.				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.N3576N(1)		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)	GGAGAGCTGGCGTTGGGCCCA	0.443											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	16870839	C	T	16870839	3	4	226	1	0	0	0	0	1	0	0	0	4051	768	27	1	150	1	CUBN	10	16870839	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		16870839	118663908	28	15521											
OR52M1	119772	broad.mit.edu	37	11	4566817	4566817	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:4566817C>T	uc010qyf.2	+	0	397	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACCCACTACGTCATAGCAT	0.522													T	4566817	C	T	4566817	3	4	226	1	0	0	0	0	1	0	0	0	11126	536	19	1	399	1	OR52M1	11	4566817	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		4566817	130439699	29	15522											
OR4S2	219431	broad.mit.edu	37	11	55419151	55419151	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:55419151C>T	uc001nhs.1	+	0	772	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATGTACATGCGCCCTGATAC	0.463													T	55419151	C	T	55419151	3	4	226	1	0	0	0	0	1	0	0	0	11083	768	27	1	774	1	OR4S2	11	55419151	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	50852334	55419151	79587365	30	15523											
SLC25A45	283130	broad.mit.edu	37	11	65143941	65143941	+	Silent	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:65143941G>A	uc001odr.1	-	6	1008	c.804C>T	c.(802-804)cgC>cgT	p.R268R	SLC25A45_uc009yqi.1_Silent_p.R206R|SLC25A45_uc001odq.1_Silent_p.R244R|SLC25A45_uc001ods.1_Silent_p.R226R|SLC25A45_uc001odt.1_Silent_p.R226R	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	268					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.R268C(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CGGGAAAGGCGCGGGCACTGT	0.617													A	65143941	G	A	65143941	2	1	226	1	0	0	0	0	0	0	0	1	14510	1074	38	1		1	SLC25A45	11	65143941	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	9724790	65143941	69862575	31	15524											
CD3G	917	broad.mit.edu	37	11	118223167	118223167	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:118223167C>A	uc001psu.2	+	5	612	c.532C>A	c.(532-534)Cag>Aag	p.Q178K	CD3G_uc009zaa.1_Missense_Mutation_p.Q118K	NM_000073	NP_000064	P09693	CD3G_HUMAN	Homo sapiens CD3g molecule, gamma (CD3-TCR complex) (CD3G), mRNA.	178					establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	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;3.04e-05)		TCAAGGAAACCAGTTGAGGAG	0.443													A	118223167	C	A	118223167	3	1	226	1	0	0	0	0	1	0	0	0	3013	595	21	5	554	5	CD3G	11	118223167	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	53079226	118223167	16783349	32	15525											
KCNA6	3742	broad.mit.edu	37	12	4919731	4919731	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:4919731G>C	uc001qng.3	+	0	1390	c.524G>C	c.(523-525)gGc>gCc	p.G175A	KCNA6_uc021qtr.1_Missense_Mutation_p.G175A	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	175						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R174R(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCGGCCAGGGGCATCGCCATC	0.597										HNSCC(72;0.22)			C	4919731	G	C	4919731	3	2	226	1	0	0	0	0	1	0	0	0	8007	1203	42	5	526	5	KCNA6	12	4919731	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		4919731	128932164	33	15526											
NANOG	79923	broad.mit.edu	37	12	7945667	7945667	+	Silent	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:7945667C>T	uc009zfy.1	+	1	489	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	91					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AAGACAAGGTCCCGGTCAAGA	0.478													T	7945667	C	T	7945667	2	4	226	1	0	0	0	0	0	0	0	1	10150	842	30	3		3	NANOG	12	7945667	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08	3025936	7945667	125906228	34	15527											
FAM60A	58516	broad.mit.edu	37	12	31451078	31451078	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:31451078C>T	uc001rkc.3	-	0	378	c.136G>A	c.(136-138)Gct>Act	p.A46T	FAM60A_uc010sjz.2_Missense_Mutation_p.A21T|FAM60A_uc001rkd.3_Missense_Mutation_p.A21T|FAM60A_uc010ska.2_Missense_Mutation_p.A21T|FAM60A_uc001rke.3_Missense_Mutation_p.A21T|FAM60A_uc010skb.2_Intron	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	21										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GAGGACTTAGCTCTGCAAATA	0.418													T	31451078	C	T	31451078	3	4	226	1	0	0	0	0	1	0	0	0	5595	797	28	3	624	3	FAM60A	12	31451078	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	23505411	31451078	102400817	35	15528											
TAOK3	51347	broad.mit.edu	37	12	118599775	118599775	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:118599775C>T	uc001twx.3	-	17	2252	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	TAOK3_uc001twv.3_Missense_Mutation_p.D193N|TAOK3_uc001tww.3_Missense_Mutation_p.D483N|TAOK3_uc001twy.4_Missense_Mutation_p.D653N	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	653					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGACTCGTCGTGCCGGATT	0.507													T	118599775	C	T	118599775	3	4	226	1	0	0	0	0	1	0	0	0	15546	884	31	2	755	2	TAOK3	12	118599775	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	87148697	118599775	15252120	36	15529											
ABCB9	23457	broad.mit.edu	37	12	123430663	123430663	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:123430663T>G	uc001udm.4	-	5	1470	c.1160A>C	c.(1159-1161)gAg>gCg	p.E387A	ABCB9_uc021rfo.1_Missense_Mutation_p.E387A|ABCB9_uc021rfp.1_Missense_Mutation_p.E387A|ABCB9_uc010tai.2_5'Flank|ABCB9_uc001udo.4_Missense_Mutation_p.E387A|ABCB9_uc010taj.2_Missense_Mutation_p.E387A|ABCB9_uc001udq.3_Missense_Mutation_p.E169A|ABCB9_uc021rfq.1_Missense_Mutation_p.E387A|ABCB9_uc001udr.3_Missense_Mutation_p.E387A	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	387	ABC transmembrane type-1.|Poly-Glu.				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			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)		CACCTCTGCCTCCTCCTCCTC	0.602													G	123430663	T	G	123430663	3	3	226	1	0	0	0	0	1	0	0	0	48	1551	54	5	1168	5	ABCB9	12	123430663	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08	4830888	123430663	10421232	37	15530											
FRMD6	122786	broad.mit.edu	37	14	52179253	52179253	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:52179253G>T	uc001wzd.3	+	8	1118	c.833G>T	c.(832-834)gGa>gTa	p.G278V	FRMD6_uc001wzb.3_Missense_Mutation_p.G270V|FRMD6_uc001wzc.3_Missense_Mutation_p.G270V|FRMD6_uc001wze.3_Missense_Mutation_p.G201V|FRMD6_uc001wzf.3_5'Flank	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	278	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ACAAATGTTGGAAAATTGGTG	0.284													T	52179253	G	T	52179253	3	4	226	1	0	0	0	0	1	0	0	0	6054	1174	41	5	839	5	FRMD6	14	52179253	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		52179253	55170287	38	15531											
PLEKHH1	57475	broad.mit.edu	37	14	68026397	68026397	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:68026397A>C	uc001xjl.1	+	4	554	c.412A>C	c.(412-414)Aag>Cag	p.K138Q		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	138						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGTGACACTCAAGTTGGCAAA	0.537													C	68026397	A	C	68026397	3	2	226	1	0	0	0	0	1	0	0	0	12076	131	5	5	426	5	PLEKHH1	14	68026397	Missense_Mutation	SNP	A	TCGA-32-1986-01A-01D-1494-08	15847144	68026397	39323143	39	15532											
FBLN5	10516	broad.mit.edu	37	14	92403398	92403398	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:92403398G>A	uc010aue.3	-	4	868	c.395C>T	c.(394-396)cCg>cTg	p.P132L	FBLN5_uc010aud.3_Missense_Mutation_p.P96L|FBLN5_uc001xzx.4_Missense_Mutation_p.P91L	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	91	EGF-like 2; 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			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)				TGCTGGGTACGGACCTgagta	0.532													A	92403398	G	A	92403398	3	1	226	1	0	0	0	0	1	0	0	0	5700	1116	39	2	1106	2	FBLN5	14	92403398	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	24377001	92403398	14946142	40	15533											
TMCO5A	145942	broad.mit.edu	37	15	38233922	38233922	+	Silent	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:38233922C>T	uc001zjw.3	+	6	597	c.495C>T	c.(493-495)ctC>ctT	p.L165L	TMCO5A_uc001zjv.1_Silent_p.L165L|TMCO5A_uc010bbc.1_Silent_p.L165L	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	165						integral to membrane		p.L165P(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						ATCAAGCCCTCTACATAAAGG	0.363													T	38233922	C	T	38233922	2	4	226	1	0	0	0	0	0	0	0	1	15996	900	32	3		3	TMCO5A	15	38233922	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08		38233922	64297470	41	15534											
MAP1A	4130	broad.mit.edu	37	15	43816806	43816806	+	Silent	SNP	T	T	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:43816806T>C	uc001zrt.3	+	3	3602	c.3135T>C	c.(3133-3135)gcT>gcC	p.A1045A		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1045						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGATGCTGCTGAGGAGACAG	0.572													C	43816806	T	C	43816806	2	2	226	1	0	0	0	0	0	0	0	1	9227	1567	55	4		4	MAP1A	15	43816806	Silent	SNP	T	TCGA-32-1986-01A-01D-1494-08	5582884	43816806	58714586	42	15535											
SENP8	123228	broad.mit.edu	37	15	72432114	72432114	+	Silent	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:72432114C>T	uc021spq.1	+	1	483	c.150C>T	c.(148-150)caC>caT	p.H50H	SENP8_uc021spr.1_Silent_p.H50H|SENP8_uc021sps.1_Silent_p.H50H|SENP8_uc021spt.1_Silent_p.H50H|SENP8_uc002atp.3_Silent_p.H50H|SENP8_uc021spu.1_Silent_p.H50H	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	50	Protease.				proteolysis		cysteine-type peptidase activity|protein binding	p.D49H(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GCTCTGATCACGTCAGTTTCA	0.478													T	72432114	C	T	72432114	2	4	226	1	0	0	0	0	0	0	0	1	14052	535	19	1		1	SENP8	15	72432114	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08	28615308	72432114	30099278	43	15536											
LRRK1	79705	broad.mit.edu	37	15	101528988	101528988	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:101528988C>T	uc002bwr.3	+	4	902	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Missense_Mutation_p.R195C	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	195					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCATCGTGCGCTTGCCCCT	0.607													T	101528988	C	T	101528988	3	4	226	1	0	0	0	0	1	0	0	0	9032	768	27	1	597	1	LRRK1	15	101528988	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	29096874	101528988	1002404	44	15537											
ZNF646	9726	broad.mit.edu	37	16	31091658	31091658	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr16:31091658G>A	uc002eap.3	+	1	4302	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	ZNF646_uc021tgu.1_Missense_Mutation_p.R1338H	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.N1337I(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TACTCCAACCGCATGGCCCTG	0.697													A	31091658	G	A	31091658	3	1	226	1	0	0	0	0	1	0	0	0	18059	1087	38	1	4015	1	ZNF646	16	31091658	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		31091658	59263095	45	15538											
CDH13	1012	broad.mit.edu	37	16	83704446	83704446	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr16:83704446G>A	uc010vns.2	+	9	1558	c.1294G>A	c.(1294-1296)Gtt>Att	p.V432I	CDH13_uc002fgx.3_Missense_Mutation_p.V385I|CDH13_uc010vnt.2_Missense_Mutation_p.V131I|CDH13_uc010vnu.2_Missense_Mutation_p.V346I	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	385	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CAATTTGACAGTTGAAGATAA	0.478													A	83704446	G	A	83704446	3	1	226	1	0	0	0	0	1	0	0	0	3099	1029	36	3	1187	3	CDH13	16	83704446	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	52612788	83704446	6650307	46	15539											
MYO15A	51168	broad.mit.edu	37	17	18025430	18025430	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:18025430C>T	uc021trm.1	+	0	3535	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W	MYO15A_uc021trl.1_Missense_Mutation_p.R1106W	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1106	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.R1106W(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGGGGTGAACGGCGCCAGGC	0.672													T	18025430	C	T	18025430	3	4	226	1	0	0	0	0	1	0	0	0	10063	527	19	1	3318	1	MYO15A	17	18025430	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		18025430	63169780	47	15540											
TP53I13	90313	broad.mit.edu	37	17	27899640	27899640	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:27899640C>G	uc002hee.3	+	5	1032	c.994C>G	c.(994-996)Cgg>Ggg	p.R332G		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	332						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GCTCTGCACACGGCTGCACAG	0.682													G	27899640	C	G	27899640	3	3	226	1	0	0	0	0	1	0	0	0	16383	527	19	5	1016	5	TP53I13	17	27899640	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	9874210	27899640	53295570	48	15541											
NF1	4763	broad.mit.edu	37	17	29556164	29556164	+	Missense_Mutation	SNP	T	T	C	rs137854566		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:29556164T>C	uc002hgg.3	+	20	2914	c.2531T>C	c.(2530-2532)cTt>cCt	p.L844P	NF1_uc002hgh.3_Missense_Mutation_p.L844P|NF1_uc010csn.2_Missense_Mutation_p.L704P|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	844			L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGGCTTCCTTTGTGCCCTT	0.517			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29556164	T	C	29556164	3	2	226	1	0	0	0	0	1	0	0	0	10356	1609	56	4	2674	4	NF1	17	29556164	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08	1656524	29556164	51639046	49	15542											
SLFN11	91607	broad.mit.edu	37	17	33680901	33680901	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:33680901C>G	uc002hjg.4	-	3	1623	c.1376G>C	c.(1375-1377)tGt>tCt	p.C459S	SLFN11_uc010ctr.3_Missense_Mutation_p.C459S|SLFN11_uc010ctp.3_Missense_Mutation_p.C459S|SLFN11_uc010ctq.3_Missense_Mutation_p.C459S|SLFN11_uc002hjh.4_Missense_Mutation_p.C459S	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	459						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGAGCATCACAGATGACTCC	0.488													G	33680901	C	G	33680901	3	3	226	1	0	0	0	0	1	0	0	0	14733	478	17	5	1337	5	SLFN11	17	33680901	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	4124737	33680901	47514309	50	15543											
SLFN13	146857	broad.mit.edu	37	17	33769128	33769128	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:33769128C>G	uc002hjk.1	-	2	1706	c.1376G>C	c.(1375-1377)tGt>tCt	p.C459S	SLFN13_uc010wch.1_Missense_Mutation_p.C459S|SLFN13_uc002hjl.2_Missense_Mutation_p.C459S|SLFN13_uc002hjm.2_Missense_Mutation_p.C128S|SLFN13_uc010ctt.2_Missense_Mutation_p.C141S	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	459						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGAGCATCACAGATGACTCC	0.527													G	33769128	C	G	33769128	3	3	226	1	0	0	0	0	1	0	0	0	14736	478	17	5	1325	5	SLFN13	17	33769128	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	88227	33769128	47426082	51	15544											
KRT34	3885	broad.mit.edu	37	17	39535641	39535641	+	Silent	SNP	G	G	A	rs145615462		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:39535641G>A	uc002hwm.3	-	4	978	c.966C>T	c.(964-966)aaC>aaT	p.N322N		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	322	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCTCCAGGGCGTTGACTGTGC	0.597													A	39535641	G	A	39535641	2	1	226	1	0	0	0	0	0	0	0	1	8471	1136	40	1		1	KRT34	17	39535641	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	5766513	39535641	41659569	52	15545											
DDX5	1655	broad.mit.edu	37	17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:62496298delT	uc010deh.2	-	12	1631	c.1588delA	c.(1588-1590)actfs	p.T530fs	DDX5_uc002jek.2_Frame_Shift_Del_p.T530fs|DDX5_uc002jej.2_Frame_Shift_Del_p.T425fs|DDX5_uc010wqa.1_Frame_Shift_Del_p.T451fs	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	530					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCATTCTGAGTTTTTGCCCCA	0.413			T	ETV4	prostate								-	62496298	T	-	62496298	7	5	226	1	0	1	0	1	0	0	0	0	4367	1725	60	0	260	0	DDX5	17	62496298	Frame_Shift_Del	DEL	T	TCGA-32-1986-01A-01D-1494-08	22960657	62496298	18698912	53	15546											
C1QTNF1	114897	broad.mit.edu	37	17	77043872	77043872	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:77043872G>A	uc002jwt.3	+	2	924	c.842G>A	c.(841-843)gGc>gAc	p.G281D	C1QTNF1_uc002jwp.3_Missense_Mutation_p.G183D|C1QTNF1_uc002jwq.3_Missense_Mutation_p.G101D|C1QTNF1_uc002jwr.4_Missense_Mutation_p.G193D|C1QTNF1_uc002jws.3_Missense_Mutation_p.G183D	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	183	C1q.					collagen				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)			ATGTTCACCGGCAAGTTCTAC	0.547													A	77043872	G	A	77043872	3	1	226	1	0	0	0	0	1	0	0	0	1962	1203	42	3	558	3	C1QTNF1	17	77043872	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	14547574	77043872	4151338	54	15547											
NKG7	4818	broad.mit.edu	37	19	51875671	51875671	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr19:51875671G>A	uc002pwj.3	-	0	290	c.119C>T	c.(118-120)tCg>tTg	p.S40L	NKG7_uc002pwk.3_Missense_Mutation_p.S40L	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	40						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCAGAGGCCCGAGTGAGCTGA	0.607													A	51875671	G	A	51875671	3	1	226	1	0	0	0	0	1	0	0	0	10443	1059	37	2	394	2	NKG7	19	51875671	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		51875671	7253312	55	15548											
ITCH	83737	broad.mit.edu	37	20	32981637	32981637	+	Missense_Mutation	SNP	A	A	G			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:32981637A>G	uc010geu.1	+	2	212	c.20A>G	c.(19-21)cAa>cGa	p.Q7R	ITCH_uc002xak.2_Missense_Mutation_p.Q7R|ITCH_uc010zuj.1_5'UTR	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	7	C2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGTGGATCACAACTTGGTTCA	0.378													G	32981637	A	G	32981637	3	3	226	1	0	0	0	0	1	0	0	0	7868	130	5	4	22	4	ITCH	20	32981637	Missense_Mutation	SNP	A	TCGA-32-1986-01A-01D-1494-08		32981637	30043883	56	15549											
RPRD1B	58490	broad.mit.edu	37	20	36668949	36668949	+	Silent	SNP	T	T	C			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:36668949T>C	uc002xho.4	+	1	666	c.264T>C	c.(262-264)gcT>gcC	p.A88A		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	88	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGTGGATGCTTTTTCTCATG	0.353													C	36668949	T	C	36668949	2	2	226	1	0	0	0	0	0	0	0	1	13616	1596	56	4		4	RPRD1B	20	36668949	Silent	SNP	T	TCGA-32-1986-01A-01D-1494-08	3687312	36668949	26356571	57	15550											
HNF4A	3172	broad.mit.edu	37	20	43057004	43057004	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:43057004C>T	uc002xma.3	+	8	1248	c.1159C>T	c.(1159-1161)Cac>Tac	p.H387Y	HNF4A_uc002xlu.3_Missense_Mutation_p.H365Y|HNF4A_uc002xlv.3_Missense_Mutation_p.H365Y|HNF4A_uc010ggq.3_Missense_Mutation_p.H380Y|HNF4A_uc002xlz.3_Missense_Mutation_p.H387Y	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	387					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCATGCCCACCACCCCCTGCA	0.587													T	43057004	C	T	43057004	3	4	226	1	0	0	0	0	1	0	0	0	7253	594	21	3	1371	3	HNF4A	20	43057004	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	6388055	43057004	19968516	58	15551											
KCNB1	3745	broad.mit.edu	37	20	48098546	48098546	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:48098546G>A	uc002xur.1	-	0	638	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	KCNB1_uc002xus.1_Missense_Mutation_p.R158W	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	158					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R158L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCGCCTTCCCGCTCCCGTAGG	0.582													A	48098546	G	A	48098546	3	1	226	1	0	0	0	0	1	0	0	0	8012	1086	38	1	2112	1	KCNB1	20	48098546	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	5041542	48098546	14926974	59	15552											
C22orf23	84645	broad.mit.edu	37	22	38341090	38341090	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr22:38341090C>T	uc003auj.2	-	4	649	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	C22orf23_uc021wpl.1_Missense_Mutation_p.R126Q	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.	147										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					AGCCTTCTGTCGTGCAGGAGG	0.562													T	38341090	C	T	38341090	3	4	226	1	0	0	0	0	1	0	0	0	2137	884	31	2	225	2	C22orf23	22	38341090	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		38341090	12963476	60	15553											
ACRC	93953	broad.mit.edu	37	X	70830624	70830624	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chrX:70830624C>T	uc004eae.2	+	10	2206	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	569						nucleus		p.R568W(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAAGTGGCGGCGCTTTGCCAA	0.517													T	70830624	C	T	70830624	3	4	226	1	0	0	0	0	1	0	0	0	171	768	27	1	1743	1	ACRC	23	70830624	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		70830624	84439936	61	15554											
INPP5B	3633	broad.mit.edu	37	1	38345863	38345863	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:38345863T>C	uc001ccf.1	-	8	980	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	INPP5B_uc009vvk.1_Missense_Mutation_p.K420E|INPP5B_uc001ccg.1_Missense_Mutation_p.K479E|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	559					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTGAATTTTCAGCTATACA	0.398													C	38345863	T	C	38345863	3	2	227	1	0	0	0	0	1	0	0	0	7755	1792	62	4	1346	4	INPP5B	1	38345863	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08		38345863	210904758	1	15555											
CGN	57530	broad.mit.edu	37	1	151491244	151491244	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:151491244G>T	uc009wmw.3	+	1	393	c.249G>T	c.(247-249)aaG>aaT	p.K83N		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	77	Head.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAAATCAAGGGGGCCAATG	0.592													T	151491244	G	T	151491244	3	4	227	1	0	0	0	0	1	0	0	0	3303	991	35	5	251	5	CGN	1	151491244	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	113145381	151491244	97759377	2	15556											
HRNR	388697	broad.mit.edu	37	1	152187646	152187646	+	Silent	SNP	T	T	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:152187646T>C	uc001ezt.1	-	2	6535	c.6459A>G	c.(6457-6459)tcA>tcG	p.S2153S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2153					keratinization		calcium ion binding|protein binding	p.S2152S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACGAACCTGAGCTAGATC	0.607													C	152187646	T	C	152187646	2	2	227	1	0	0	0	0	0	0	0	1	7359	1567	55	4		4	HRNR	1	152187646	Silent	SNP	T	TCGA-32-1991-01A-01D-1353-08	696402	152187646	97062975	3	15557											
ABL2	27	broad.mit.edu	37	1	179077669	179077669	+	Silent	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:179077669C>T	uc001gmj.4	-	11	3020	c.2733G>A	c.(2731-2733)ccG>ccA	p.P911P	ABL2_uc010pnf.2_Silent_p.P808P|ABL2_uc010png.2_Silent_p.P787P|ABL2_uc010pnh.2_Silent_p.P890P|ABL2_uc001gmg.4_Silent_p.P793P|ABL2_uc001gmi.4_Silent_p.P896P|ABL2_uc010pne.2_Silent_p.P772P	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	911	F-actin-binding (By similarity).|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			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)	AAGGCCAGCCCGGCTGCTCTC	0.607			T	ETV6	AML								T	179077669	C	T	179077669	2	4	227	1	0	0	0	0	0	0	0	1	93	639	23	2		2	ABL2	1	179077669	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	26890023	179077669	70172952	4	15558											
CFH	3075	broad.mit.edu	37	1	196709801	196709801	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:196709801G>T	uc001gtj.4	+	17	3075	c.2835G>T	c.(2833-2835)atG>atT	p.M945I	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	945	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAGCTCACATGTCAGACAGTT	0.353													T	196709801	G	T	196709801	3	4	227	1	0	0	0	0	1	0	0	0	3283	1377	48	5	2923	5	CFH	1	196709801	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	17632132	196709801	52540820	5	15559											
PTPRC	5788	broad.mit.edu	37	1	198703534	198703534	+	Silent	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:198703534C>A	uc001gur.1	+	21	2431	c.2251C>A	c.(2251-2253)Cga>Aga	p.R751R	PTPRC_uc001gut.1_Silent_p.R590R|PTPRC_uc021pgy.1_Silent_p.R705R|PTPRC_uc010ppg.1_Silent_p.R687R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	751	Tyrosine-protein phosphatase 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			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						CATGGTCACTCGATGTGAAGA	0.423													A	198703534	C	A	198703534	2	1	227	1	0	0	0	0	0	0	0	1	12797	876	31	5		5	PTPRC	1	198703534	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	1993733	198703534	50547087	6	15560											
SOX13	9580	broad.mit.edu	37	1	204086257	204086259	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:204086257_204086259delAGC	uc001ham.3	+	5	1194_1196	c.599_601delAGC	c.(598-603)aagcag>aag	p.Q204del	SOX13_uc001hal.3_In_Frame_Del_p.Q204del|SOX13_uc010pqp.2_In_Frame_Del_p.Q204del|SOX13_uc010pqq.2_In_Frame_Del_p.Q71del	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	204	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGATTGCAAAGCAGCAGCAGCA	0.581													-	204086259	AGC	-	204086257	7	5	227	1	0	1	0	1	0	0	0	0	14944	72	3	0	617	0	SOX13	1	204086257	In_Frame_Del	DEL	AGC	TCGA-32-1991-01A-01D-1353-08	5382723	204086257	45164364	7	15561											
PIGR	5284	broad.mit.edu	37	1	207108974	207108974	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:207108974C>T	uc001hez.3	-	4	1419	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PIGR_uc009xbz.3_Missense_Mutation_p.R412H	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	412	Ig-like V-type 4.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGGGAGAGGCGGCCCTCGTA	0.637											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	207108974	C	T	207108974	3	4	227	1	0	0	0	0	1	0	0	0	11897	768	27	1	1087	1	PIGR	1	207108974	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	3022717	207108974	42141647	8	15562											
OR2M5	127059	broad.mit.edu	37	1	248308541	248308541	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:248308541T>C	uc010pze.2	+	0	92	c.92T>C	c.(91-93)gTc>gCc	p.V31A		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30L(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)			TTCTTTCTGGTCCTGGCCATC	0.507													C	248308541	T	C	248308541	3	2	227	1	0	0	0	0	1	0	0	0	11013	1667	58	4	94	4	OR2M5	1	248308541	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	41199567	248308541	942080	9	15563											
KCNK3	3777	broad.mit.edu	37	2	26950700	26950700	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:26950700G>A	uc002rhn.2	+	1	612	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	150					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGCATGCGGCGCGCCGAC	0.652													A	26950700	G	A	26950700	3	1	227	1	0	0	0	0	1	0	0	0	8067	1116	39	2	455	2	KCNK3	2	26950700	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		26950700	216248673	10	15564											
THADA	63892	broad.mit.edu	37	2	43458375	43458375	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:43458375G>A	uc002rsw.4	-	37	5926	c.5574C>T	c.(5572-5574)tcC>tcT	p.S1858S	THADA_uc010far.3_Silent_p.S1053S|THADA_uc002rsx.4_Silent_p.S1858S|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1858							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GACGCCAGCCGGACTTTGAGA	0.517													A	43458375	G	A	43458375	2	1	227	1	0	0	0	0	0	0	0	1	15837	1103	39	2		2	THADA	2	43458375	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	16507675	43458375	199740998	11	15565											
CNTNAP5	129684	broad.mit.edu	37	2	125555882	125555882	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:125555882C>A	uc010flu.3	+	18	3566	c.3202C>A	c.(3202-3204)Ctg>Atg	p.L1068M	CNTNAP5_uc002tno.3_Missense_Mutation_p.L1067M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1067	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L1067L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGTGGTTGTTCTGCTCTGCAA	0.498													A	125555882	C	A	125555882	3	1	227	1	0	0	0	0	1	0	0	0	3650	912	32	5	3273	5	CNTNAP5	2	125555882	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	82097507	125555882	117643491	12	15566											
UBR3	130507	broad.mit.edu	37	2	170850840	170850840	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:170850840G>A	uc010zdi.2	+	25	3792	c.3792G>A	c.(3790-3792)ggG>ggA	p.G1264G	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Silent_p.G85G|UBR3_uc002uft.4_Silent_p.G117G	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1264					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TAGTTTTGGGGCAGTGCCGTG	0.418													A	170850840	G	A	170850840	2	1	227	1	0	0	0	0	0	0	0	1	16900	1190	42	3		3	UBR3	2	170850840	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	45294958	170850840	72348533	13	15567											
FAM126B	285172	broad.mit.edu	37	2	201853144	201853144	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:201853144C>G	uc002uws.4	-	11	1020	c.832_splice	c.e11-1	p.V278_splice	FAM126B_uc002uwu.3_Splice_Site_p.V196_splice|FAM126B_uc002uwv.3_Splice_Site_p.V278_splice	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	278						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCATTGGCAACCTACAATGAT	0.338													G	201853144	C	G	201853144	3	3	227	1	0	0	0	0	1	0	0	0	5430	521	18	5	768	5	FAM126B	2	201853144	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	31002304	201853144	41346229	14	15568											
PLEKHM3	389072	broad.mit.edu	37	2	208841553	208841553	+	Silent	SNP	A	A	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:208841553A>G	uc002vcl.2	-	2	1858	c.1368T>C	c.(1366-1368)aaT>aaC	p.N456N	PLEKHM3_uc002vcm.2_Silent_p.N456N	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	456	PH 2.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTCGCCACATTGGCAGCTA	0.522													G	208841553	A	G	208841553	2	3	227	1	0	0	0	0	0	0	0	1	12082	214	8	4		4	PLEKHM3	2	208841553	Silent	SNP	A	TCGA-32-1991-01A-01D-1353-08	6988409	208841553	34357820	15	15569											
C3orf32	51066	broad.mit.edu	37	3	8661576	8661576	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:8661576C>A	uc011atg.2	-	11	1146	c.1106G>T	c.(1105-1107)tGc>tTc	p.C369F	C3orf32_uc003bqz.3_Missense_Mutation_p.C347F|C3orf32_uc003bqs.1_Non-coding_Transcript|C3orf32_uc003bqt.3_Missense_Mutation_p.C296F|C3orf32_uc003bqu.3_Missense_Mutation_p.C347F|C3orf32_uc003bqv.3_Missense_Mutation_p.C296F|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.C347F	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	347										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						ACAGCCACAGCAATACCGCTC	0.507													A	8661576	C	A	8661576	3	1	227	1	0	0	0	0	1	0	0	0	2222	710	25	5	25	5	C3orf32	3	8661576	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		8661576	189360854	16	15570											
CCBP2	1238	broad.mit.edu	37	3	42905968	42905968	+	Translation_Start_Site	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:42905968C>T	uc003cme.3	+	2					CCBP2_uc003cmf.3_5'UTR|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_5'Flank	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.						chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CACTACAGGACGTCGGGACTG	0.527													T	42905968	C	T	42905968	1	4	227	1	0	0	0	0	0	0	0	0	2734	551	19	1		1	CCBP2	3	42905968	Translation_Start_Site	SNP	C	TCGA-32-1991-01A-01D-1353-08	34244392	42905968	155116462	17	15571											
PCNP	57092	broad.mit.edu	37	3	101304326	101304326	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:101304326G>A	uc003dva.3	+	2	343	c.325G>A	c.(325-327)Gta>Ata	p.V109I	PCNP_uc003dvb.3_Non-coding_Transcript|PCNP_uc003dvc.3_Non-coding_Transcript|PCNP_uc003dvd.3_Missense_Mutation_p.V109I	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	Homo sapiens PEST proteolytic signal containing nuclear protein (PCNP), mRNA.	109					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						AACTCTTTCAGTAGCAGCAGC	0.299													A	101304326	G	A	101304326	3	1	227	1	0	0	0	0	1	0	0	0	11589	1029	36	3	335	3	PCNP	3	101304326	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	58398358	101304326	96718104	18	15572											
DNAJC19	131118	broad.mit.edu	37	3	180702463	180702463	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:180702463C>T	uc003fkt.3	-	5	488	c.316G>A	c.(316-318)Gct>Act	p.A106T	DNAJC19_uc021xhv.1_Missense_Mutation_p.A81T|DNAJC19_uc021xhw.1_Missense_Mutation_p.A81T|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	106	J.				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			AAATCTTTAGCTTCATTGATT	0.284													T	180702463	C	T	180702463	3	4	227	1	0	0	0	0	1	0	0	0	4638	797	28	3	38	3	DNAJC19	3	180702463	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	79398137	180702463	17319967	19	15573											
DRD5	1816	broad.mit.edu	37	4	9784083	9784083	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:9784083A>T	uc003gmb.4	+	0	826	c.430A>T	c.(430-432)Agg>Tgg	p.R144W		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	144					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGCCATCTCCAGGCCCTTCCG	0.597													T	9784083	A	T	9784083	3	4	227	1	0	0	0	0	1	0	0	0	4760	179	7	5	432	5	DRD5	4	9784083	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08		9784083	181370193	20	15574											
SEPSECS	51091	broad.mit.edu	37	4	25127315	25127315	+	Splice_Site	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:25127315C>T	uc003grg.3	-	10	1424	c.1211_splice	c.e10+1	p.R404_splice	SEPSECS_uc003gri.3_Splice_Site_p.R403_splice|SEPSECS_uc003grh.3_Splice_Site_p.R325_splice	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	404					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AACATACTTACCTGGCTCCAG	0.388													T	25127315	C	T	25127315	5	4	227	1	0	0	0	0	0	0	1	0	14058	521	18	3	301	3	SEPSECS	4	25127315	Splice_Site	SNP	C	TCGA-32-1991-01A-01D-1353-08	15343232	25127315	166026961	21	15575											
CCKAR	886	broad.mit.edu	37	4	26491828	26491828	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:26491828C>A	uc003gse.1	-	0	215	c.62G>T	c.(61-63)gGg>gTg	p.G21V		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	21					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.L20L(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATTTTCGAGCCCGAGTTCACA	0.493													A	26491828	C	A	26491828	3	1	227	1	0	0	0	0	1	0	0	0	2880	623	22	5	1244	5	CCKAR	4	26491828	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	1364513	26491828	164662448	22	15576											
SRD5A1	6715	broad.mit.edu	37	5	6662995	6662995	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:6662995C>T	uc003jdw.3	+	3	819	c.629C>T	c.(628-630)gCc>gTc	p.A210V	SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Missense_Mutation_p.A163V	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	210					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	TGTGGCTATGCCCTGGCCAGC	0.423													T	6662995	C	T	6662995	3	4	227	1	0	0	0	0	1	0	0	0	15137	739	26	3	643	3	SRD5A1	5	6662995	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		6662995	174252265	23	15577											
ZNF622	90441	broad.mit.edu	37	5	16453250	16453250	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:16453250T>A	uc003jfq.3	-	4	1298	c.1178A>T	c.(1177-1179)cAt>cTt	p.H393L		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	393						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CAAGGAGCGATGACCCACTCT	0.463													A	16453250	T	A	16453250	3	1	227	1	0	0	0	0	1	0	0	0	18043	1464	51	5	263	5	ZNF622	5	16453250	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	9790255	16453250	164462010	24	15578											
NPR3	4883	broad.mit.edu	37	5	32739137	32739137	+	Splice_Site	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:32739137G>A	uc003jhv.3	+	3	1504	c.1059_splice	c.e3+1	p.Y353_splice	NPR3_uc010iuo.3_Splice_Site_p.Y137_splice|NPR3_uc003jhw.2_Splice_Site_p.Y137_splice|NPR3_uc003jhu.3_Splice_Site_p.Y353_splice	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	353					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.?(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGAGGATTACGTAAGTGCCTG	0.408													A	32739137	G	A	32739137	5	1	227	1	0	0	0	0	0	0	1	0	10596	1159	40	1	1070	1	NPR3	5	32739137	Splice_Site	SNP	G	TCGA-32-1991-01A-01D-1353-08	16285887	32739137	148176123	25	15579											
PIK3R1	5295	broad.mit.edu	37	5	67591096	67591098	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:67591096_67591098delGAA	uc003jva.3	+	12	2269_2271	c.1689_1691delGAA	c.(1687-1692)atgaac>atc	p.563_564MN>I	PIK3R1_uc003jvc.3_In_Frame_Del_p.263_264MN>I|PIK3R1_uc003jvd.3_In_Frame_Del_p.293_294MN>I|PIK3R1_uc003jve.3_In_Frame_Del_p.242_243MN>I|PIK3R1_uc021xzn.1_In_Frame_Del_p.200_201MN>I|PIK3R1_uc011crb.2_In_Frame_Del_p.233_234MN>I	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	563					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(8)|p.D560_S565del(2)|p.N564K(2)|p.R562_M563ins13(1)|p.0?(1)|p.?(1)|p.N564fs*?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACAAACGTATGAACAGCATTAAA	0.374			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591098	GAA	-	67591096	7	5	227	1	0	1	0	1	0	0	0	0	11918	1290	45	0	1865	0	PIK3R1	5	67591096	In_Frame_Del	DEL	GAA	TCGA-32-1991-01A-01D-1353-08	34851959	67591096	113324164	26	15580											
SH3RF2	153769	broad.mit.edu	37	5	145393623	145393623	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:145393623A>T	uc003lnt.3	+	5	1297	c.1059_splice	c.e5+1	p.Q353_splice	SH3RF2_uc011dbl.1_Splice_Site_p.Q353_splice	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	353							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGTGGGACAGGTAGGGAAG	0.512													T	145393623	A	T	145393623	3	4	227	1	0	0	0	0	1	0	0	0	14259	202	7	5	1072	5	SH3RF2	5	145393623	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	77802527	145393623	35521637	27	15581											
DCTN4	51164	broad.mit.edu	37	5	150133220	150133220	+	Splice_Site	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:150133220C>A	uc010jhi.3	-	3	309	c.207_splice	c.e3-1	p.R69_splice	DCTN4_uc003lsu.3_Splice_Site_p.R12_splice|DCTN4_uc003lsv.3_Splice_Site_p.R69_splice|DCTN4_uc010jhj.2_Splice_Site|DCTN4_uc011dck.1_Splice_Site_p.R12_splice	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	69						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGCACATCTGTGACATGA	0.438													A	150133220	C	A	150133220	5	1	227	1	0	0	0	0	0	0	1	0	4309	927	32	5	1245	5	DCTN4	5	150133220	Splice_Site	SNP	C	TCGA-32-1991-01A-01D-1353-08	4739597	150133220	30782040	28	15582											
ZFAND3	60685	broad.mit.edu	37	6	38084429	38084429	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:38084429G>C	uc003onx.3	+	4	858	c.443G>C	c.(442-444)cGa>cCa	p.R148P		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.	148							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						GAAACCAGTCGATCTAAACAG	0.507													C	38084429	G	C	38084429	3	2	227	1	0	0	0	0	1	0	0	0	17626	1058	37	5	461	5	ZFAND3	6	38084429	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		38084429	133030638	29	15583											
CAPN11	11131	broad.mit.edu	37	6	44147870	44147870	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:44147870G>A	uc003owt.1	+	13	1648	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	CAPN11_uc011dvn.2_Missense_Mutation_p.R191Q	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	537	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCTGCTTCGGGTCTTCACC	0.577													A	44147870	G	A	44147870	3	1	227	1	0	0	0	0	1	0	0	0	2624	1116	39	2	1664	2	CAPN11	6	44147870	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	6063441	44147870	126967197	30	15584											
BCLAF1	9774	broad.mit.edu	37	6	136599814	136599814	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:136599814G>A	uc003qgx.1	-	3	458	c.205C>T	c.(205-207)Cga>Tga	p.R69*	BCLAF1_uc003qgy.1_Nonsense_Mutation_p.R67*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.R67*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.R69*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	69					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATAAGGTCGTCTCATTCCT	0.433													A	136599814	G	A	136599814	4	1	227	1	0	0	0	0	0	1	0	0	1383	1153	40	1	2597	1	BCLAF1	6	136599814	Nonsense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	92451944	136599814	34515253	31	15585											
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221821	G	A	55221821	3	1	227	1	0	0	0	0	1	0	0	0	4967	1319	46	3	891	3	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		55221821	103916842	32	15586											
RNF133	168433	broad.mit.edu	37	7	122338474	122338474	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:122338474T>G	uc003vkj.1	-	0	735	c.499A>C	c.(499-501)Att>Ctt	p.I167L	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	167	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCCTTCTTAATTAAATGGAAA	0.423													G	122338474	T	G	122338474	3	3	227	1	0	0	0	0	1	0	0	0	13439	1493	52	5	635	5	RNF133	7	122338474	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	67116653	122338474	36800189	33	15587											
SMARCD3	6604	broad.mit.edu	37	7	150945617	150945617	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:150945617C>T	uc003wjs.3	-	0	133	c.32G>A	c.(31-33)cGc>cAc	p.R11H	SMARCD3_uc003wjt.3_Intron|SMARCD3_uc003wju.3_Intron|SMARCD3_uc011kvh.1_Missense_Mutation_p.R11H|SMARCD3_uc010lqa.1_Missense_Mutation_p.R11H	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	11					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGGCTTTGCGCGCCCCTCC	0.582													T	150945617	C	T	150945617	3	4	227	1	0	0	0	0	1	0	0	0	14779	768	27	1	1471	1	SMARCD3	7	150945617	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	28607143	150945617	8193046	34	15588											
DEFA4	1669	broad.mit.edu	37	8	6794410	6794410	+	Silent	SNP	G	G	A	rs61749084	byFrequency	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:6794410G>A	uc003wqu.1	-	1	63	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	4					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.I4I(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAGGAGGGCGATAATCCTCA	0.622													A	6794410	G	A	6794410	2	1	227	1	0	0	0	0	0	0	0	1	4391	1048	37	2		2	DEFA4	8	6794410	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08		6794410	139569612	35	15589											
NKX3-1	4824	broad.mit.edu	37	8	23538761	23538761	+	Silent	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:23538761C>T	uc011kzx.2	-	1	726	c.678G>A	c.(676-678)gtG>gtA	p.V226V	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.	226					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCAGCTGCCCACGCAGTACA	0.542													T	23538761	C	T	23538761	2	4	227	1	0	0	0	0	0	0	0	1	10455	581	21	3		3	NKX3-1	8	23538761	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	16744351	23538761	122825261	36	15590											
PREX2	80243	broad.mit.edu	37	8	68989642	68989642	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:68989642G>A	uc003xxv.1	+	14	1607	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	PREX2_uc003xxu.1_Missense_Mutation_p.R527H|PREX2_uc011lez.1_Missense_Mutation_p.R462H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	527	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAGATTGCCGCACCAGAGAA	0.438													A	68989642	G	A	68989642	3	1	227	1	0	0	0	0	1	0	0	0	12477	1087	38	1	1638	1	PREX2	8	68989642	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	45450881	68989642	77374380	37	15591											
WDYHV1	55093	broad.mit.edu	37	8	124442261	124442261	+	Silent	SNP	A	A	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:124442261A>G	uc003yqn.1	+	2	347	c.222A>G	c.(220-222)ggA>ggG	p.G74G	WDYHV1_uc011lij.1_Silent_p.G14G	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	74					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CTGGAGATGGACCTGTGATCT	0.378													G	124442261	A	G	124442261	2	3	227	1	0	0	0	0	0	0	0	1	17340	262	10	4		4	WDYHV1	8	124442261	Silent	SNP	A	TCGA-32-1991-01A-01D-1353-08	55452619	124442261	21921761	38	15592											
LRRC24	441381	broad.mit.edu	37	8	145748578	145748578	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:145748578C>G	uc003zdm.3	-	4	955	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	275	Ig-like C2-type.					integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCAGGTCCTCACCCAGGTTG	0.682													G	145748578	C	G	145748578	3	3	227	1	0	0	0	0	1	0	0	0	8979	835	29	5	722	5	LRRC24	8	145748578	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	21306317	145748578	615444	39	15593											
KIAA1045	23349	broad.mit.edu	37	9	34971449	34971449	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:34971449G>A	uc003zvq.3	+	1	332	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	KIAA1045_uc003zvr.3_Missense_Mutation_p.V52I	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	52							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGAGGGCTCCGTCCAGGAGGT	0.647													A	34971449	G	A	34971449	3	1	227	1	0	0	0	0	1	0	0	0	8207	1145	40	1	156	1	KIAA1045	9	34971449	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		34971449	106241982	40	15594											
C9orf64	84267	broad.mit.edu	37	9	86554575	86554575	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:86554575G>A	uc004anb.3	-	3	1125	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F	C9orf64_uc004anc.3_Missense_Mutation_p.L152F	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	293										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTCCAGAAGACAATCCCGG	0.458													A	86554575	G	A	86554575	3	1	227	1	0	0	0	0	1	0	0	0	2489	942	33	3	152	3	C9orf64	9	86554575	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	51583126	86554575	54658856	41	15595											
GADD45G	10912	broad.mit.edu	37	9	92220750	92220750	+	Silent	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:92220750C>T	uc004aqq.3	+	2	434	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_006705	NP_006696	O95257	GA45G_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, gamma (GADD45G), mRNA.	108					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding			lung(2)	2						TGGGCGCCGGCGAGGAGGCGG	0.662													T	92220750	C	T	92220750	2	4	227	1	0	0	0	0	0	0	0	1	6183	755	27	1		1	GADD45G	9	92220750	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	5666175	92220750	48992681	42	15596											
DNAJC9	23234	broad.mit.edu	37	10	75006771	75006771	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr10:75006771G>C	uc001jtr.3	-	0	492	c.177C>G	c.(175-177)ttC>ttG	p.F59L	DNAJC9_uc010qkg.2_Missense_Mutation_p.F59L|DNAJC9_uc010qkh.1_Non-coding_Transcript|DNAJC9-AS1_uc021ptm.1_5'Flank	NM_015190	NP_056005	Q8WXX5	DNJC9_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 9 (DNAJC9), mRNA.	59	J.				protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TGCATACCTGGAAGCGGCGGG	0.736													C	75006771	G	C	75006771	3	2	227	1	0	0	0	0	1	0	0	0	4656	1165	41	5	625	5	DNAJC9	10	75006771	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		75006771	60527976	43	15597											
PTEN	5728	broad.mit.edu	37	10	89717636	89717636	+	Nonsense_Mutation	SNP	A	A	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr10:89717636A>T	uc001kfb.3	+	6	1693	c.661A>T	c.(661-663)Aag>Tag	p.K221*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	221	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K221*(2)|p.K221fs*2(1)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.G165_K342del(1)|p.Q214fs*22(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTGCCAGCTAAAGGTGAAGAT	0.413		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717636	A	T	89717636	4	4	227	1	0	0	0	0	0	1	0	0	12738	15	1	5	687	5	PTEN	10	89717636	Nonsense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	14710865	89717636	45817111	44	15598											
SLC22A11	55867	broad.mit.edu	37	11	64337166	64337166	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:64337166G>A	uc001oai.3	+	8	1799	c.1425G>A	c.(1423-1425)ggG>ggA	p.G475G	SLC22A11_uc009ypq.3_Silent_p.G367G	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	475					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GCCGGCTGGGGGCTATGATGG	0.612													A	64337166	G	A	64337166	2	1	227	1	0	0	0	0	0	0	0	1	14442	1219	43	3		3	SLC22A11	11	64337166	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08		64337166	70669350	45	15599											
PHLDB1	23187	broad.mit.edu	37	11	118521224	118521224	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:118521224G>A	uc001ptr.2	+	20	4199	c.3846G>A	c.(3844-3846)cgG>cgA	p.R1282R	PHLDB1_uc001pts.3_Silent_p.R1282R|PHLDB1_uc001ptt.3_Silent_p.R1235R|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.R1097R|PHLDB1_uc001ptw.2_Silent_p.R637R|PHLDB1_uc009zai.2_Silent_p.R318R|PHLDB1_uc001ptx.2_Silent_p.R318R	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1282	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTCGACCGGCTCAAGCGCA	0.572													A	118521224	G	A	118521224	2	1	227	1	0	0	0	0	0	0	0	1	11851	1190	42	3		3	PHLDB1	11	118521224	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	54184058	118521224	16485292	46	15600											
VPS26B	112936	broad.mit.edu	37	11	134104939	134104939	+	Silent	SNP	G	G	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:134104939G>T	uc001qhe.3	+	1	828	c.372G>T	c.(370-372)gtG>gtT	p.V124V		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.	124					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GGCAGAATGTGAAGCTACGGT	0.562													T	134104939	G	T	134104939	2	4	227	1	0	0	0	0	0	0	0	1	17195	1277	45	5		5	VPS26B	11	134104939	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	15583715	134104939	901577	47	15601											
NANOG	79923	broad.mit.edu	37	12	7945568	7945568	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:7945568G>A	uc009zfy.1	+	1	390	c.174G>A	c.(172-174)atG>atA	p.M58I		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	58					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTTCCTCCATGGATCTGCTTA	0.388													A	7945568	G	A	7945568	3	1	227	1	0	0	0	0	1	0	0	0	10150	1348	47	3	180	3	NANOG	12	7945568	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		7945568	125906327	48	15602											
KLRK1	22914	broad.mit.edu	37	12	10539553	10539553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:10539553G>A	uc009zhj.3	-	2	274	c.97C>T	c.(97-99)Cga>Tga	p.R33*	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Nonsense_Mutation_p.R33*|KLRK1_uc009zhk.3_Nonsense_Mutation_p.R33*|KLRK1_uc001qyd.3_Nonsense_Mutation_p.R33*	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	33					natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTTTGCCATCGTGTTGAAAAA	0.343													A	10539553	G	A	10539553	4	1	227	1	0	0	0	0	0	1	0	0	8423	1153	40	1	577	1	KLRK1	12	10539553	Nonsense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	2593985	10539553	123312342	49	15603											
GRIN2B	2904	broad.mit.edu	37	12	13906747	13906747	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:13906747C>T	uc001rbt.2	-	2	693	c.514G>A	c.(514-516)Gtc>Atc	p.V172I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	172					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGGTGGTGACGATAGAAAAG	0.463													T	13906747	C	T	13906747	3	4	227	1	0	0	0	0	1	0	0	0	6780	536	19	1	3984	1	GRIN2B	12	13906747	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	3367194	13906747	119945148	50	15604											
ESPL1	9700	broad.mit.edu	37	12	53662559	53662559	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:53662559C>A	uc001sck.2	+	1	100	c.9C>A	c.(7-9)agC>agA	p.S3R	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	3					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCATGAGGAGCTTCAAAAGAG	0.527													A	53662559	C	A	53662559	3	1	227	1	0	0	0	0	1	0	0	0	5253	796	28	5	11	5	ESPL1	12	53662559	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	39755812	53662559	80189336	51	15605											
KIAA0564	23078	broad.mit.edu	37	13	42142433	42142433	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr13:42142433C>A	uc001uyj.3	-	44	5688	c.5618G>T	c.(5617-5619)aGa>aTa	p.R1873I		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1873	VWFA.					extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGGTAAAGTTCTCTGAAGCCT	0.502													A	42142433	C	A	42142433	3	1	227	1	0	0	0	0	1	0	0	0	8185	913	32	5	103	5	KIAA0564	13	42142433	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		42142433	73027445	52	15606											
C14orf49	161176	broad.mit.edu	37	14	95932331	95932331	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr14:95932331G>A	uc001yei.4	-	2	579	c.564C>T	c.(562-564)agC>agT	p.S188S	C14orf49_uc010avi.3_Silent_p.S188S|C14orf49_uc001yej.1_Silent_p.S188S	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	188					cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	p.P187P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CTTCGTCCACGCTGGGGTCCC	0.627													A	95932331	G	A	95932331	2	1	227	1	0	0	0	0	0	0	0	1	1776	1078	38	1		1	C14orf49	14	95932331	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08		95932331	11417209	53	15607											
CHRFAM7A	89832	broad.mit.edu	37	15	30664456	30664456	+	Silent	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:30664456C>T	uc001zdt.1	-	6	983	c.417G>A	c.(415-417)agG>agA	p.R139R	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.R48R|CHRFAM7A_uc010azn.2_Silent_p.R48R	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN	Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.	139						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		AGTAGAGCGTCCTGCGGCGCA	0.572													T	30664456	C	T	30664456	2	4	227	1	0	0	0	0	0	0	0	1	3375	854	30	3		3	CHRFAM7A	15	30664456	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08		30664456	71866936	54	15608											
RYR3	6263	broad.mit.edu	37	15	33952594	33952594	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:33952594T>A	uc001zhi.3	+	33	4662	c.4592T>A	c.(4591-4593)aTg>aAg	p.M1531K	RYR3_uc010bar.3_Missense_Mutation_p.M1531K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1531	4 X approximate repeats.				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)		CCCCTGCAGATGATGGCGCTC	0.672													A	33952594	T	A	33952594	3	1	227	1	0	0	0	0	1	0	0	0	13770	1464	51	5	4726	5	RYR3	15	33952594	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	3288138	33952594	68578798	55	15609											
WDR72	256764	broad.mit.edu	37	15	53998128	53998128	+	Silent	SNP	A	A	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:53998128A>G	uc002acj.2	-	9	1140	c.1098T>C	c.(1096-1098)ccT>ccC	p.P366P	WDR72_uc010bfi.1_Silent_p.P366P	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	366										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACTTACCTCTAGGAGAACCAT	0.383													G	53998128	A	G	53998128	2	3	227	1	0	0	0	0	0	0	0	1	17319	407	15	4		4	WDR72	15	53998128	Silent	SNP	A	TCGA-32-1991-01A-01D-1353-08	20045534	53998128	48533264	56	15610											
PCSK6	5046	broad.mit.edu	37	15	101972225	101972225	+	Silent	SNP	G	G	A	rs117473739	by1000genomes	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:101972225G>A	uc002bxa.2	-	3	794	c.480C>T	c.(478-480)aaC>aaT	p.N160N	PCSK6_uc010bpd.3_Silent_p.N31N|PCSK6_uc002bwy.3_Silent_p.N160N|PCSK6_uc010bpe.3_Silent_p.N157N|PCSK6_uc002bxb.2_Silent_p.N160N|PCSK6_uc002bxc.1_Silent_p.N160N|PCSK6_uc002bxd.1_Silent_p.N160N|PCSK6_uc002bxe.3_Silent_p.N160N|PCSK6_uc002bxg.1_Silent_p.N160N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	161	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAATGGGGTCGTTGAAGTAAA	0.512													A	101972225	G	A	101972225	2	1	227	1	0	0	0	0	0	0	0	1	11604	1136	40	1		1	PCSK6	15	101972225	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	47974097	101972225	559167	57	15611											
TSC2	7249	broad.mit.edu	37	16	2134267	2134267	+	Missense_Mutation	SNP	C	C	A	rs137854084		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:2134267C>A	uc002con.3	+	33	4150	c.4044C>A	c.(4042-4044)caC>caA	p.H1348Q	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.H1325Q|TSC2_uc002coo.3_Missense_Mutation_p.H1281Q|TSC2_uc010uvv.2_Missense_Mutation_p.H1245Q|TSC2_uc010uvw.2_Missense_Mutation_p.H1233Q|TSC2_uc002cop.3_Missense_Mutation_p.H1104Q|TSC2_uc002coq.3_Missense_Mutation_p.H123Q	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1348					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGTCGCTCCACGCGGAGGAGC	0.657			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				A	2134267	C	A	2134267	3	1	227	1	0	0	0	0	1	0	0	0	16603	535	19	5	4174	5	TSC2	16	2134267	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		2134267	88220486	58	15612											
CHD9	80205	broad.mit.edu	37	16	53190198	53190198	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:53190198C>A	uc002ehb.3	+	0	361	c.197C>A	c.(196-198)aCt>aAt	p.T66N	CHD9_uc002egy.3_Missense_Mutation_p.T66N|CHD9_uc002egz.1_Missense_Mutation_p.T66N|CHD9_uc002ehc.3_Missense_Mutation_p.T66N	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	66					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGAAGATGACTGATTTTGAA	0.363													A	53190198	C	A	53190198	3	1	227	1	0	0	0	0	1	0	0	0	3332	565	20	5	199	5	CHD9	16	53190198	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	51055931	53190198	37164555	59	15613											
SLC38A7	55238	broad.mit.edu	37	16	58705012	58705012	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:58705012C>G	uc002eod.1	-	9	1561	c.1168G>C	c.(1168-1170)Gac>Cac	p.D390H	SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Missense_Mutation_p.D301H	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	390					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TTGCCGATGTCAGGGATGAAG	0.667													G	58705012	C	G	58705012	3	3	227	1	0	0	0	0	1	0	0	0	14609	826	29	5	232	5	SLC38A7	16	58705012	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	5514814	58705012	31649741	60	15614											
B3GNT9	84752	broad.mit.edu	37	16	67184087	67184087	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:67184087T>G	uc021tka.1	-	0	302	c.302A>C	c.(301-303)aAc>aCc	p.N101T	B3GNT9_uc002erf.3_Missense_Mutation_p.N101T|BC007896_uc002erg.1_Missense_Mutation_p.L164V	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 (B3GNT9), mRNA.	101					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GTGCGGCTGGTTAATGAGCAG	0.672													G	67184087	T	G	67184087	3	3	227	1	0	0	0	0	1	0	0	0	1264	1725	60	5	910	5	B3GNT9	16	67184087	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	8479075	67184087	23170666	61	15615											
NEUROD2	4761	broad.mit.edu	37	17	37762281	37762281	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr17:37762281G>A	uc002hry.3	-	1	772	c.572C>T	c.(571-573)aCt>aTt	p.T191I	NEUROD2_uc021tws.1_Missense_Mutation_p.T191I	NM_006160	NP_006151	Q15784	NDF2_HUMAN	Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.	191					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CTTGCACAGAGTCTGCACGTA	0.622													A	37762281	G	A	37762281	3	1	227	1	0	0	0	0	1	0	0	0	10349	1029	36	3	580	3	NEUROD2	17	37762281	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		37762281	43432929	62	15616											
ZNF516	9658	broad.mit.edu	37	18	74090999	74090999	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr18:74090999G>A	uc021ulp.1	-	3	3389	c.3071C>T	c.(3070-3072)gCg>gTg	p.A1024V	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	1024					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGCAAGGCCGCGTCGCCCCT	0.721													A	74090999	G	A	74090999	3	1	227	1	0	0	0	0	1	0	0	0	17957	1087	38	1	437	1	ZNF516	18	74090999	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		74090999	3986249	63	15617											
EVI5L	115704	broad.mit.edu	37	19	7928493	7928493	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:7928493C>A	uc010xjz.2	+	18	2370	c.2323C>A	c.(2323-2325)Cgc>Agc	p.R775S	EVI5L_uc002min.3_Missense_Mutation_p.R764S	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	764						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCGCTTCTTCCGCCGTCTGGA	0.687													A	7928493	C	A	7928493	3	1	227	1	0	0	0	0	1	0	0	0	5290	652	23	5	2397	5	EVI5L	19	7928493	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		7928493	51200490	64	15618											
CILP2	148113	broad.mit.edu	37	19	19654993	19654993	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:19654993G>A	uc002nmw.4	+	7	1742	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	CILP2_uc002nmv.4_Missense_Mutation_p.V547M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	547						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGTGCCGGCGTGTACCACGA	0.622													A	19654993	G	A	19654993	3	1	227	1	0	0	0	0	1	0	0	0	3430	1145	40	1	1669	1	CILP2	19	19654993	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	11726500	19654993	39473990	65	15619											
PSG3	5671	broad.mit.edu	37	19	43233959	43233959	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:43233959C>T	uc002oue.3	-	3	1091	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	320	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.R320C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGGGTAACTGCGGATGCCACC	0.493													T	43233959	C	T	43233959	3	4	227	1	0	0	0	0	1	0	0	0	12656	768	27	1	339	1	PSG3	19	43233959	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	23578966	43233959	15895024	66	15620											
RUVBL2	10856	broad.mit.edu	37	19	49510608	49510608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:49510608C>T	uc002plr.1	+	5	458	c.445C>T	c.(445-447)Cga>Tga	p.R149*	RUVBL2_uc010yab.2_Nonsense_Mutation_p.R149*|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Nonsense_Mutation_p.R104*	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	149					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CCAGATTGATCGACCAGCAAC	0.587													T	49510608	C	T	49510608	4	4	227	1	0	0	0	0	0	1	0	0	13753	876	31	2	467	2	RUVBL2	19	49510608	Nonsense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	6276649	49510608	9618375	67	15621											
LHB	3972	broad.mit.edu	37	19	49519328	49519328	+	Silent	SNP	G	G	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:49519328G>T	uc002plt.3	-	2	432	c.423C>A	c.(421-423)ctC>ctA	p.L141L		NM_000894	NP_000885	P01229	LSHB_HUMAN	Homo sapiens luteinizing hormone beta polypeptide (LHB), mRNA.	141					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	AGGGTCTTTAGAGGAAGAGGA	0.622													T	49519328	G	T	49519328	2	4	227	1	0	0	0	0	0	0	0	1	8761	929	33	5		5	LHB	19	49519328	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	8720	49519328	9609655	68	15622											
AP2A1	160	broad.mit.edu	37	19	50270423	50270423	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:50270423G>A	uc002ppn.3	+	0	244	c.33G>A	c.(31-33)cgG>cgA	p.R11R	AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.3_Silent_p.R11R	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	11					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			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)		ATGGGATGCGGGGGCTCGCGG	0.706													A	50270423	G	A	50270423	2	1	227	1	0	0	0	0	0	0	0	1	739	1219	43	3		3	AP2A1	19	50270423	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	751095	50270423	8858560	69	15623											
CEACAM18	729767	broad.mit.edu	37	19	51981792	51981792	+	Missense_Mutation	SNP	C	C	G	rs140323408	by1000genomes	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:51981792C>G	uc002pwv.1	+	1	79	c.79C>G	c.(79-81)Cga>Gga	p.R27G		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	27						integral to membrane		p.R27*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCTGGGAGACGAGACCGGCA	0.647													G	51981792	C	G	51981792	3	3	227	1	0	0	0	0	1	0	0	0	3189	528	19	5	85	5	CEACAM18	19	51981792	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	1711369	51981792	7147191	70	15624											
PRKCG	5582	broad.mit.edu	37	19	54395012	54395012	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:54395012G>A	uc002qcq.1	+	5	896	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	PRKCG_uc010eqz.1_Missense_Mutation_p.R205Q|PRKCG_uc010yef.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeg.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeh.1_Missense_Mutation_p.R92Q|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	205	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.R205Q(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGACCCTCGGAACCTGACG	0.532													A	54395012	G	A	54395012	3	1	227	1	0	0	0	0	1	0	0	0	12512	1116	39	2	636	2	PRKCG	19	54395012	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	2413220	54395012	4733971	71	15625											
NLRP2	55655	broad.mit.edu	37	19	55494705	55494705	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:55494705A>T	uc021vbq.1	+	5	1750	c.1639A>T	c.(1639-1641)Aac>Tac	p.N547Y	NLRP2_uc010yfp.2_Missense_Mutation_p.N524Y|NLRP2_uc002qij.3_Missense_Mutation_p.N547Y|NLRP2_uc010esp.3_Missense_Mutation_p.N525Y|NLRP2_uc010esn.3_Missense_Mutation_p.N523Y|NLRP2_uc010eso.3_Missense_Mutation_p.N544Y	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	547					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAGACTCAGGAACCCCGACCT	0.567													T	55494705	A	T	55494705	3	4	227	1	0	0	0	0	1	0	0	0	10477	246	9	5	1657	5	NLRP2	19	55494705	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	1099693	55494705	3634278	72	15626											
CEBPB	1051	broad.mit.edu	37	20	48807614	48807614	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr20:48807614C>T	uc002xvi.2	+	0	495	c.44C>T	c.(43-45)cCg>cTg	p.P15L		NM_005194	NP_005185	P17676	CEBPB_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), beta (CEBPB), mRNA.	15	Required for Lys-174 sumoylation.				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CTCCCCCTGCCGCCGCCGCCG	0.726													T	48807614	C	T	48807614	3	4	227	1	0	0	0	0	1	0	0	0	3200	652	23	2	46	2	CEBPB	20	48807614	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		48807614	14217906	73	15627											
HIRA	7290	broad.mit.edu	37	22	19365576	19365576	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr22:19365576C>T	uc002zpf.1	-	13	1649	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	HIRA_uc011agx.1_Missense_Mutation_p.A343T|HIRA_uc010grn.1_Missense_Mutation_p.A477T|HIRA_uc010gro.2_Missense_Mutation_p.A433T|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	477	Interaction with ASF1A.|Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTAAAGAATGCCGTGGAGAAG	0.488													T	19365576	C	T	19365576	3	4	227	1	0	0	0	0	1	0	0	0	7120	739	26	3	1672	3	HIRA	22	19365576	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		19365576	31938990	74	15628											
DDX3X	1654	broad.mit.edu	37	X	41204796	41204796	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:41204796C>A	uc004dfe.3	+	11	2165	c.1310C>A	c.(1309-1311)gCa>gAa	p.A437E	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.A437E|DDX3X_uc011mkq.2_Missense_Mutation_p.A421E|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	437	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTCCTAAATGCAACAGGTAAC	0.418										HNSCC(61;0.18)			A	41204796	C	A	41204796	3	1	227	1	0	0	0	0	1	0	0	0	4358	710	25	5	1356	5	DDX3X	23	41204796	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		41204796	114065764	75	15629											
AKAP4	8852	broad.mit.edu	37	X	49957173	49957173	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:49957173C>T	uc004dow.1	-	4	2315	c.2191G>A	c.(2191-2193)Gca>Aca	p.A731T	AKAP4_uc004dou.1_Missense_Mutation_p.A722T|AKAP4_uc004dov.1_Missense_Mutation_p.A348T|AKAP4_uc010njp.1_Missense_Mutation_p.A553T	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	731					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGCTTATTTGCCGAGGCTGCT	0.448													T	49957173	C	T	49957173	3	4	227	1	0	0	0	0	1	0	0	0	453	739	26	3	381	3	AKAP4	23	49957173	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	8752377	49957173	105313387	76	15630											
RGAG1	57529	broad.mit.edu	37	X	109694254	109694254	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:109694254G>A	uc004eor.2	+	2	655	c.409G>A	c.(409-411)Gta>Ata	p.V137I	RGAG1_uc011msr.1_Missense_Mutation_p.V137I	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	137										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGAGTATGGGGTAATGTCCCC	0.502													A	109694254	G	A	109694254	3	1	227	1	0	0	0	0	1	0	0	0	13274	1261	44	3	411	3	RGAG1	23	109694254	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	59737081	109694254	45576306	77	15631											
MAGEA11	4110	broad.mit.edu	37	X	148794878	148794878	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:148794878A>C	uc004fdq.3	+	1	214	c.59A>C	c.(58-60)aAg>aCg	p.K20T	MAGEA11_uc004fdr.3_Intron	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	20						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATCAAGAGGAAGAAGAAGAGG	0.572													C	148794878	A	C	148794878	3	2	227	1	0	0	0	0	1	0	0	0	9165	72	3	5	74	5	MAGEA11	23	148794878	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	39100624	148794878	6475682	78	15632											
CCDC27	148870	broad.mit.edu	37	1	3684010	3684010	+	Splice_Site	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:3684010G>A	uc001akv.2	+	10	1824	c.1743_splice	c.e10+1	p.R581_splice		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	581										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)		CCAGTCCAGGGTATGCCCAGC	0.647													A	3684010	G	A	3684010	5	1	228	1	0	0	0	0	0	0	1	0	2801	1275	44	3	1782	3	CCDC27	1	3684010	Splice_Site	SNP	G	TCGA-32-2491-01A-01D-1353-08		3684010	245566611	1	15633											
CASZ1	54897	broad.mit.edu	37	1	10702922	10702922	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:10702922C>T	uc001aro.3	-	19	4476	c.4156G>A	c.(4156-4158)Gcg>Acg	p.A1386T		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCACCTGCCGCGGTGCTCTCG	0.687													T	10702922	C	T	10702922	3	4	228	1	0	0	0	0	1	0	0	0	2685	768	27	1	1131	1	CASZ1	1	10702922	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	7018912	10702922	238547699	2	15634											
HSPG2	3339	broad.mit.edu	37	1	22170742	22170742	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:22170742C>G	uc009vqd.3	-	64	8558	c.8518G>C	c.(8518-8520)Gca>Cca	p.A2840P	HSPG2_uc001bfj.3_Missense_Mutation_p.A2839P	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2839	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCCTTCTGCCACTCGGGAG	0.682													G	22170742	C	G	22170742	3	3	228	1	0	0	0	0	1	0	0	0	7430	739	26	5	4792	5	HSPG2	1	22170742	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	11467820	22170742	227079879	3	15635											
GRIK3	2899	broad.mit.edu	37	1	37282846	37282846	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:37282846G>A	uc001caz.2	-	12	2041	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	GRIK3_uc001cba.1_Missense_Mutation_p.R636C	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	636					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCAATGATGCGTGTGGACAGG	0.562													A	37282846	G	A	37282846	3	1	228	1	0	0	0	0	1	0	0	0	6775	1145	40	1	869	1	GRIK3	1	37282846	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	15112104	37282846	211967775	4	15636											
PIK3R3	8503	broad.mit.edu	37	1	46509434	46509434	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:46509434G>T	uc010olw.2	-	9	1452	c.1435C>A	c.(1435-1437)Cag>Aag	p.Q479K	PIK3R3_uc001cpb.4_Missense_Mutation_p.Q433K|PIK3R3_uc009vyb.3_Missense_Mutation_p.Q374K|PIK3R3_uc009vyc.3_Missense_Mutation_p.Q450K|PIK3R3_uc001cpc.4_Missense_Mutation_p.Q433K|PIK3R3_uc010olv.2_Missense_Mutation_p.Q223K	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	433					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGTCTGCTGGTAATGGAGC	0.532													T	46509434	G	T	46509434	3	4	228	1	0	0	0	0	1	0	0	0	11920	1357	47	5	92	5	PIK3R3	1	46509434	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	9226588	46509434	202741187	5	15637											
PARS2	25973	broad.mit.edu	37	1	55224003	55224003	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:55224003A>T	uc021ont.1	-	0	832	c.832T>A	c.(832-834)Ttc>Atc	p.F278I	PARS2_uc001cxy.3_Missense_Mutation_p.F278I	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	278					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TTGGCTGAGAAGCTGCAGCGG	0.562													T	55224003	A	T	55224003	3	4	228	1	0	0	0	0	1	0	0	0	11467	72	3	5	599	5	PARS2	1	55224003	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	8714569	55224003	194026618	6	15638											
LRRIQ3	127255	broad.mit.edu	37	1	74507037	74507037	+	Silent	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:74507037A>G	uc001dfy.4	-	6	1770	c.1578T>C	c.(1576-1578)acT>acC	p.T526T	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	526								p.T526T(2)|p.R525C(2)|p.R525L(1)|p.R525F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGGTCAAAAGAGTGCGCTCAT	0.358													G	74507037	A	G	74507037	2	3	228	1	0	0	0	0	0	0	0	1	9030	291	11	4		4	LRRIQ3	1	74507037	Silent	SNP	A	TCGA-32-2491-01A-01D-1353-08	19283034	74507037	174743584	7	15639											
SF3B4	10262	broad.mit.edu	37	1	149898406	149898406	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:149898406C>G	uc001etk.2	-	2	1061	c.568G>C	c.(568-570)Gca>Cca	p.A190P	SF3B4_uc009wll.1_Missense_Mutation_p.A190P	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	190						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CGTTCGGCTGCTGAGCCATGG	0.562													G	149898406	C	G	149898406	3	3	228	1	0	0	0	0	1	0	0	0	14153	797	28	5	722	5	SF3B4	1	149898406	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	75391369	149898406	99352215	8	15640											
FMO3	2328	broad.mit.edu	37	1	171079944	171079944	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:171079944G>A	uc001ghi.3	+	5	744	c.633G>A	c.(631-633)atG>atA	p.M211I	FMO3_uc001ghh.3_Missense_Mutation_p.M211I|FMO3_uc010pmb.2_Missense_Mutation_p.M191I|FMO3_uc010pmc.2_Missense_Mutation_p.M148I	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	211					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTAAGGTCATGATCAGTTCCA	0.463													A	171079944	G	A	171079944	3	1	228	1	0	0	0	0	1	0	0	0	5956	1290	45	3	651	3	FMO3	1	171079944	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	21181538	171079944	78170677	9	15641											
ABL2	27	broad.mit.edu	37	1	179086548	179086548	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:179086548C>T	uc001gmj.4	-	7	1614	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	ABL2_uc010pnf.2_Missense_Mutation_p.A443T|ABL2_uc010png.2_Missense_Mutation_p.A422T|ABL2_uc010pnh.2_Missense_Mutation_p.A422T|ABL2_uc009wxe.3_Missense_Mutation_p.A422T|ABL2_uc001gmg.4_Missense_Mutation_p.A428T|ABL2_uc001gmi.4_Missense_Mutation_p.A428T|ABL2_uc010pne.2_Missense_Mutation_p.A407T|ABL2_uc001gmk.3_Missense_Mutation_p.A407T|ABL2_uc009wxf.2_Missense_Mutation_p.A428T	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	443	Protein kinase.				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			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)	TTGGCTCCAGCATGAGCAGTA	0.443			T	ETV6	AML								T	179086548	C	T	179086548	3	4	228	1	0	0	0	0	1	0	0	0	93	710	25	3	2286	3	ABL2	1	179086548	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	8006604	179086548	70164073	10	15642											
PTPRC	5788	broad.mit.edu	37	1	198685877	198685877	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:198685877C>T	uc001gur.1	+	12	1532	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	PTPRC_uc001gut.1_Missense_Mutation_p.T290M|PTPRC_uc009wzf.1_Missense_Mutation_p.T339M|PTPRC_uc021pgy.1_Missense_Mutation_p.T405M|PTPRC_uc010ppg.1_Missense_Mutation_p.T387M	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	451	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			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						AAACCTTATACGAAATATGTT	0.313													T	198685877	C	T	198685877	3	4	228	1	0	0	0	0	1	0	0	0	12797	536	19	1	1409	1	PTPRC	1	198685877	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	19599329	198685877	50564744	11	15643											
OPTC	26254	broad.mit.edu	37	1	203466194	203466194	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:203466194G>C	uc001gzu.1	+	2	437	c.321G>C	c.(319-321)atG>atC	p.M107I		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	107	Ser/Thr-rich.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCCCACGATGACCAGACCTA	0.562													C	203466194	G	C	203466194	3	2	228	1	0	0	0	0	1	0	0	0	10888	1290	45	5	327	5	OPTC	1	203466194	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	4780317	203466194	45784427	12	15644											
OBSCN	84033	broad.mit.edu	37	1	228404990	228404990	+	Splice_Site	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:228404990G>T	uc009xez.1	+	8	2697	c.2653_splice	c.e8+1	p.E885_splice	OBSCN_uc001hsn.3_Splice_Site_p.E885_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	885					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCGTCTCTGGTGAGCACGCT	0.652													T	228404990	G	T	228404990	5	4	228	1	0	0	0	0	0	0	1	0	10812	1275	44	5	2680	5	OBSCN	1	228404990	Splice_Site	SNP	G	TCGA-32-2491-01A-01D-1353-08	24938796	228404990	20845631	13	15645											
CHML	1122	broad.mit.edu	37	1	241797601	241797601	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:241797601G>A	uc001hzd.3	-	0	1632	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	490					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCTGTGACCCGTACAGCACAA	0.418													A	241797601	G	A	241797601	3	1	228	1	0	0	0	0	1	0	0	0	3351	1144	40	1	506	1	CHML	1	241797601	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	13392611	241797601	7453020	14	15646											
GDF7	151449	broad.mit.edu	37	2	20870425	20870425	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:20870425G>A	uc002rdz.1	+	1	1169	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	Homo sapiens growth differentiation factor 7 (GDF7), mRNA.	198					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTACTCGCGGGCAGCTGAG	0.731													A	20870425	G	A	20870425	3	1	228	1	0	0	0	0	1	0	0	0	6318	1116	39	2	599	2	GDF7	2	20870425	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		20870425	222328948	15	15647											
CAPN13	92291	broad.mit.edu	37	2	30986009	30986009	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:30986009G>C	uc021vfn.1	-	5	745	c.713C>G	c.(712-714)gCa>gGa	p.A238G	CAPN13_uc021vfm.1_Missense_Mutation_p.A238G|CAPN13_uc002rnp.1_Missense_Mutation_p.A238G	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	238	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CATCGCCTGTGCTGTATCTGT	0.522													C	30986009	G	C	30986009	3	2	228	1	0	0	0	0	1	0	0	0	2626	1319	46	5	1360	5	CAPN13	2	30986009	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10115584	30986009	212213364	16	15648											
EHBP1	23301	broad.mit.edu	37	2	63086375	63086375	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:63086375G>C	uc002sby.3	+	8	1293	c.811G>C	c.(811-813)Gat>Cat	p.D271H	EHBP1_uc010fcp.3_Missense_Mutation_p.D236H|EHBP1_uc002sbx.2_Missense_Mutation_p.D236H|EHBP1_uc002sbz.3_Missense_Mutation_p.D236H|EHBP1_uc002scb.3_Missense_Mutation_p.D236H	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	271						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAATCCATTTGATGATCCTGA	0.358													C	63086375	G	C	63086375	3	2	228	1	0	0	0	0	1	0	0	0	4975	1290	45	5	841	5	EHBP1	2	63086375	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	32100366	63086375	180112998	17	15649											
SMYD5	10322	broad.mit.edu	37	2	73449902	73449902	+	Missense_Mutation	SNP	G	G	A	rs116053390	by1000genomes	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:73449902G>A	uc002siw.2	+	6	691	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	SMYD5_uc010yre.1_Missense_Mutation_p.R105Q	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	221							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAACTTCTGCGGAGACTCTTC	0.592													A	73449902	G	A	73449902	3	1	228	1	0	0	0	0	1	0	0	0	14825	1116	39	2	688	2	SMYD5	2	73449902	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10363527	73449902	169749471	18	15650											
SEMA4F	10505	broad.mit.edu	37	2	74907015	74907016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:74907015_74907016insG	uc002sna.1	+	13	2103_2104	c.1992_1993insG	c.(1990-1995)gctggcfs	p.A664fs	SEMA4F_uc010ffr.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snb.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snc.1_Frame_Shift_Ins_p.A509fs	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	664					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.G665V(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CGGGACTGGCTGGCTTCTTCTT	0.619													G	74907016	-	G	74907015	7	5	228	1	0	1	1	0	0	0	0	0	14035	1567	55	0	2046	0	SEMA4F	2	74907015	Frame_Shift_Ins	INS	-	TCGA-32-2491-01A-01D-1353-08	1457113	74907015	168292358	19	15651											
CLASP1	23332	broad.mit.edu	37	2	122220134	122220134	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:122220134C>T	uc002tnc.3	-	9	1303	c.913G>A	c.(913-915)Gca>Aca	p.A305T	CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.A305T|CLASP1_uc010yza.2_Missense_Mutation_p.A305T|CLASP1_uc021vnl.1_Missense_Mutation_p.A305T|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.A305T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	305					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCATCAAATGCTTTAATAAAA	0.328													T	122220134	C	T	122220134	3	4	228	1	0	0	0	0	1	0	0	0	3454	797	28	3	3879	3	CLASP1	2	122220134	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	47313119	122220134	120979239	20	15652											
MYO3B	140469	broad.mit.edu	37	2	171358331	171358331	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:171358331A>G	uc002ufy.3	+	27	3469	c.3326A>G	c.(3325-3327)aAa>aGa	p.K1109R	MYO3B_uc002ufv.3_Missense_Mutation_p.K1096R|MYO3B_uc010fqb.1_Missense_Mutation_p.K1109R|MYO3B_uc002ufz.3_Intron|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Intron|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1109	IQ 2.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAATTTAAGAAAATAAGCAAC	0.348													G	171358331	A	G	171358331	3	3	228	1	0	0	0	0	1	0	0	0	10077	14	1	4	3436	4	MYO3B	2	171358331	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	49138197	171358331	71841042	21	15653											
DFNB59	494513	broad.mit.edu	37	2	179325759	179325759	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179325759C>A	uc002umi.4	+	6	1173	c.817C>A	c.(817-819)Ctt>Att	p.L273I	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.L273I	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	273					sensory perception of sound			p.L273P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTTGGATGATCTTTTTTCTGA	0.348													A	179325759	C	A	179325759	3	1	228	1	0	0	0	0	1	0	0	0	4456	913	32	5	839	5	DFNB59	2	179325759	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	7967428	179325759	63873614	22	15654											
TTN	7273	broad.mit.edu	37	2	179423224	179423224	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179423224T>A	uc021vsy.1	-	275	79483	c.79258A>T	c.(79258-79260)Aac>Tac	p.N26420Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N20115Y|TTN_uc021vta.1_Missense_Mutation_p.N20048Y|TTN_uc021vtb.1_Missense_Mutation_p.N19923Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27347	Fibronectin type-III 92.						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)			TTAACCCAGTTTTTCTGTCCT	0.438													A	179423224	T	A	179423224	3	1	228	1	0	0	0	0	1	0	0	0	16732	1841	64	5	21161	5	TTN	2	179423224	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	97465	179423224	63776149	23	15655											
TTN	7273	broad.mit.edu	37	2	179424446	179424446	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179424446C>A	uc021vsy.1	-	274	78934	c.78709G>T	c.(78709-78711)Gac>Tac	p.D26237Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D19932Y|TTN_uc021vta.1_Missense_Mutation_p.D19865Y|TTN_uc021vtb.1_Missense_Mutation_p.D19740Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27164	Fibronectin type-III 91.						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)			GTACGAGAGTCTGTGGTATCA	0.433													A	179424446	C	A	179424446	3	1	228	1	0	0	0	0	1	0	0	0	16732	913	32	5	21714	5	TTN	2	179424446	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	1222	179424446	63774927	24	15656											
SGPP2	130367	broad.mit.edu	37	2	223339305	223339305	+	Missense_Mutation	SNP	G	G	A	rs147179845		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:223339305G>A	uc010zlo.2	+	1	238	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	SGPP2_uc010zlp.2_5'UTR	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	80					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		ACAGAAGTACGTCGTGAAGAA	0.363													A	223339305	G	A	223339305	3	1	228	1	0	0	0	0	1	0	0	0	14220	1145	40	1	244	1	SGPP2	2	223339305	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	43914859	223339305	19860068	25	15657											
SP140	11262	broad.mit.edu	37	2	231106159	231106159	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:231106159C>T	uc002vql.3	+	3	562	c.447C>T	c.(445-447)aaC>aaT	p.N149N	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.N149N|SP140_uc002vqn.3_Silent_p.N149N|SP140_uc002vqm.3_Silent_p.N149N|SP140_uc010fxl.3_Silent_p.N149N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	149					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATAATGTAAACGATTTAGAAG	0.373													T	231106159	C	T	231106159	2	4	228	1	0	0	0	0	0	0	0	1	14962	535	19	1		1	SP140	2	231106159	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	7766854	231106159	12093214	26	15658											
RBM44	375316	broad.mit.edu	37	2	238726827	238726827	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:238726827A>G	uc002vxi.4	+	2	1400	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	422							nucleotide binding|RNA binding			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)		AGAGATAATCAGGCAATAGAA	0.368													G	238726827	A	G	238726827	3	3	228	1	0	0	0	0	1	0	0	0	13138	188	7	4	1274	4	RBM44	2	238726827	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	7620668	238726827	4472546	27	15659											
ZFYVE20	64145	broad.mit.edu	37	3	15115967	15115967	+	Silent	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:15115967C>A	uc003bzm.1	-	13	2291	c.1677G>T	c.(1675-1677)ctG>ctT	p.L559L	ZFYVE20_uc010hek.1_Silent_p.L559L	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	559	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGCTGGGCTCCAGCTGAAAAG	0.572													A	15115967	C	A	15115967	2	1	228	1	0	0	0	0	0	0	0	1	17663	581	21	5		5	ZFYVE20	3	15115967	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08		15115967	182906463	28	15660											
DHX30	22907	broad.mit.edu	37	3	47888187	47888187	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:47888187G>A	uc003cru.3	+	10	2051	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	DHX30_uc003crt.3_Missense_Mutation_p.R503H|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	542	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCCTGCTGCGTAAGCTGCAG	0.627													A	47888187	G	A	47888187	3	1	228	1	0	0	0	0	1	0	0	0	4504	1145	40	1	1670	1	DHX30	3	47888187	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	32772220	47888187	150134243	29	15661											
MST1	4485	broad.mit.edu	37	3	49724639	49724639	+	Missense_Mutation	SNP	A	A	G	rs41291704		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:49724639A>G	uc003cxg.3	-	4	622	c.550T>C	c.(550-552)Tac>Cac	p.Y184H	MST1_uc011bcs.1_Missense_Mutation_p.Y184H|MST1_uc010hkx.2_Missense_Mutation_p.Y105H|MST1_uc011bct.1_Missense_Mutation_p.Y184H|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	170	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTTGTGTAGCACCAAGGA	0.627													G	49724639	A	G	49724639	3	3	228	1	0	0	0	0	1	0	0	0	9890	420	15	4	1683	4	MST1	3	49724639	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	1836452	49724639	148297791	30	15662											
NEK4	6787	broad.mit.edu	37	3	52778291	52778291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:52778291G>A	uc003dfq.4	-	10	2061	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	NEK4_uc011bej.2_Nonsense_Mutation_p.R531*|NEK4_uc003dfr.3_Nonsense_Mutation_p.R574*	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	620					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TGCTTTAGTCGCCTCCTCTCT	0.413													A	52778291	G	A	52778291	4	1	228	1	0	0	0	0	0	1	0	0	10326	1095	38	1	691	1	NEK4	3	52778291	Nonsense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	3053652	52778291	145244139	31	15663											
ACOX2	8309	broad.mit.edu	37	3	58510285	58510285	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:58510285G>A	uc003dkl.3	-	10	1569	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	465					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCTGTGGCGTGGAGCCAGG	0.617													A	58510285	G	A	58510285	3	1	228	1	0	0	0	0	1	0	0	0	159	1145	40	1	671	1	ACOX2	3	58510285	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	5731994	58510285	139512145	32	15664											
C3orf67	200844	broad.mit.edu	37	3	58853638	58853638	+	Missense_Mutation	SNP	G	G	A	rs141916956	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:58853638G>A	uc003dkt.1	-	9	1074	c.665C>T	c.(664-666)cCg>cTg	p.P222L	C3orf67_uc003dks.1_Missense_Mutation_p.P37L|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.P37L|C3orf67_uc003dkw.3_Intron	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	222								p.P222L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGGGGGATGCGGATGCATAAT	0.388													A	58853638	G	A	58853638	3	1	228	1	0	0	0	0	1	0	0	0	2241	1116	39	2	1054	2	C3orf67	3	58853638	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	343353	58853638	139168792	33	15665											
ZXDC	79364	broad.mit.edu	37	3	126160628	126160628	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:126160628C>G	uc003eiv.3	-	7	2428	c.2374G>C	c.(2374-2376)Gtc>Ctc	p.V792L	ZXDC_uc010hsh.3_Non-coding_Transcript	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	792	Interaction with CIITA.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TGGACCTGGACGCCCTGCGCC	0.677													G	126160628	C	G	126160628	3	3	228	1	0	0	0	0	1	0	0	0	18249	536	19	5	214	5	ZXDC	3	126160628	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	67306990	126160628	71861802	34	15666											
TRIM42	287015	broad.mit.edu	37	3	140397352	140397352	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:140397352G>A	uc003eto.2	+	0	487	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	94	Cys-rich.					intracellular	zinc ion binding	p.R94C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATGAGAGCCGCTGCTGCCGC	0.557													A	140397352	G	A	140397352	3	1	228	1	0	0	0	0	1	0	0	0	16514	1087	38	1	283	1	TRIM42	3	140397352	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	14236724	140397352	57625078	35	15667											
CP	1356	broad.mit.edu	37	3	148901264	148901264	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:148901264A>T	uc003ewy.4	-	12	2667	c.2414T>A	c.(2413-2415)cTg>cAg	p.L805Q	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.L586Q|CP_uc003ewz.3_Missense_Mutation_p.L805Q	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	805	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TAGAATTCCCAGATGTTCTTC	0.398													T	148901264	A	T	148901264	3	4	228	1	0	0	0	0	1	0	0	0	3787	188	7	5	811	5	CP	3	148901264	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	8503912	148901264	49121166	36	15668											
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:178952072A>G	uc003fjk.3	+	20	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(62)|p.M1043V(43)|p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952072	A	G	178952072	3	3	228	1	0	0	0	0	1	0	0	0	11913	101	4	4	3205	4	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	30050808	178952072	19070358	37	15669											
DRD5	1816	broad.mit.edu	37	4	9784905	9784905	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:9784905G>A	uc003gmb.4	+	0	1648	c.1252G>A	c.(1252-1254)Gtt>Att	p.V418I		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	418					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.A417T(2)|p.V418I(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCCCAACGCCGTTACCCCCGG	0.557													A	9784905	G	A	9784905	3	1	228	1	0	0	0	0	1	0	0	0	4760	1145	40	1	1254	1	DRD5	4	9784905	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		9784905	181369371	38	15670											
KLB	152831	broad.mit.edu	37	4	39408665	39408665	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:39408665C>A	uc003gua.3	+	0	193	c.96C>A	c.(94-96)aaC>aaA	p.N32K	KLB_uc011byj.2_Missense_Mutation_p.N32K	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	32					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAATGTCCAACGGGGGATTGC	0.453													A	39408665	C	A	39408665	3	1	228	1	0	0	0	0	1	0	0	0	8332	535	19	5	98	5	KLB	4	39408665	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	29623760	39408665	151745611	39	15671											
FRAS1	80144	broad.mit.edu	37	4	79173649	79173649	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:79173649A>G	uc003hlb.2	+	4	853	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	FRAS1_uc003hkw.3_Missense_Mutation_p.Q138R|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	138	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			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						TGTGGACACCAGGAGCTGGCA	0.562													G	79173649	A	G	79173649	3	3	228	1	0	0	0	0	1	0	0	0	6042	188	7	4	431	4	FRAS1	4	79173649	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	39764984	79173649	111980627	40	15672											
CENPE	1062	broad.mit.edu	37	4	104117134	104117134	+	Silent	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:104117134T>C	uc003hxb.1	-	3	390	c.300A>G	c.(298-300)gaA>gaG	p.E100E	CENPE_uc003hxc.1_Silent_p.E100E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	100	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCAAATGATCTTCTGAACCCA	0.348													C	104117134	T	C	104117134	2	2	228	1	0	0	0	0	0	0	0	1	3230	1606	56	4		4	CENPE	4	104117134	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	24943485	104117134	87037142	41	15673											
PRSS12	8492	broad.mit.edu	37	4	119239641	119239641	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:119239641G>A	uc003ica.2	-	4	1089	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	348	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGTGCAGCGTACTTCATCC	0.478													A	119239641	G	A	119239641	3	1	228	1	0	0	0	0	1	0	0	0	12615	1145	40	1	1621	1	PRSS12	4	119239641	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	15122507	119239641	71914635	42	15674											
TLL1	7092	broad.mit.edu	37	4	166910622	166910622	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:166910622G>A	uc003irh.2	+	1	906	c.259G>A	c.(259-261)Gga>Aga	p.G87R	TLL1_uc021xud.1_Missense_Mutation_p.G87R|TLL1_uc011cjn.2_Missense_Mutation_p.G87R|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	87					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G87E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAACCCCTTTGGAAACCTTGG	0.333													A	166910622	G	A	166910622	3	1	228	1	0	0	0	0	1	0	0	0	15942	1349	47	3	265	3	TLL1	4	166910622	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	47670981	166910622	24243654	43	15675											
ENPP6	133121	broad.mit.edu	37	4	185018423	185018423	+	Silent	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:185018423C>G	uc003iwc.3	-	6	1234	c.1092G>C	c.(1090-1092)cgG>cgC	p.R364R		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	364					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGAAGATGCCCCGCATGTCCA	0.587													G	185018423	C	G	185018423	2	3	228	1	0	0	0	0	0	0	0	1	5134	610	22	5		5	ENPP6	4	185018423	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	18107801	185018423	6135853	44	15676											
PRDM9	56979	broad.mit.edu	37	5	23527861	23527861	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:23527861C>T	uc003jgo.3	+	10	2846	c.2664C>T	c.(2662-2664)taC>taT	p.Y888Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	888					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						AGAAGCCCTACGTCTGCAGGG	0.527										HNSCC(3;0.000094)			T	23527861	C	T	23527861	2	4	228	1	0	0	0	0	0	0	0	1	12463	547	19	1		1	PRDM9	5	23527861	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08		23527861	157387399	45	15677											
FAM170A	340069	broad.mit.edu	37	5	118970068	118970068	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:118970068G>A	uc003ksm.2	+	2	835	c.625G>A	c.(625-627)Gtt>Att	p.V209I	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.V209I|FAM170A_uc003kso.3_Missense_Mutation_p.V162I	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	209						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTCACCCACCGTTGAGGACAC	0.587													A	118970068	G	A	118970068	3	1	228	1	0	0	0	0	1	0	0	0	5489	1145	40	1	635	1	FAM170A	5	118970068	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	95442207	118970068	61945192	46	15678											
PCDHAC2	56141	broad.mit.edu	37	5	140215694	140215694	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140215694G>A	uc003lhq.2	+	0	1726	c.1726G>A	c.(1726-1728)Gca>Aca	p.A576T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.A576T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	589	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGTGGCGCAGTGAGAGA	0.662													A	140215694	G	A	140215694	3	1	228	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140215694	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	21245626	140215694	40699566	47	15679											
PCDHAC2	56140	broad.mit.edu	37	5	140221979	140221979	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140221979C>G	uc003lhs.2	+	0	1073	c.1073C>G	c.(1072-1074)cCt>cGt	p.P358R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P358R	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	373	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCCTTGCCTGTACGTGAA	0.502													G	140221979	C	G	140221979	3	3	228	1	0	0	0	0	1	0	0	0	11533	681	24	5		5	PCDHAC2	5	140221979	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	6285	140221979	40693281	48	15680											
PCDHGC5	56113	broad.mit.edu	37	5	140720522	140720522	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140720522G>A	uc003ljk.2	+	0	2169	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.V662M	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	664	Cadherin 6.				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)			CACGCTCACCGTGGCCGTGGC	0.682													A	140720522	G	A	140720522	3	1	228	1	0	0	0	0	1	0	0	0	11571	1145	40	1		1	PCDHGC5	5	140720522	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	498543	140720522	40194738	49	15681											
PCDHGC5	56113	broad.mit.edu	37	5	140720558	140720558	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140720558G>A	uc003ljk.2	+	0	2205	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D674N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	676	Cadherin 6.				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)			CATCCTGGCCGACCTGGGCAG	0.687													A	140720558	G	A	140720558	3	1	228	1	0	0	0	0	1	0	0	0	11571	1058	37	2		2	PCDHGC5	5	140720558	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	36	140720558	40194702	50	15682											
TBC1D9B	23061	broad.mit.edu	37	5	179318430	179318430	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:179318430G>A	uc003mlh.3	-	5	1028	c.993C>T	c.(991-993)tgC>tgT	p.C331C	TBC1D9B_uc003mli.3_Silent_p.C331C|TBC1D9B_uc003mlj.3_Silent_p.C331C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	331	GRAM 2.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTGGCGAAGCAGATGTAGT	0.592													A	179318430	G	A	179318430	2	1	228	1	0	0	0	0	0	0	0	1	15625	963	34	3		3	TBC1D9B	5	179318430	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	38597872	179318430	1596830	51	15683											
DSP	1832	broad.mit.edu	37	6	7582878	7582878	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:7582878T>C	uc003mxp.1	+	23	5662	c.5383T>C	c.(5383-5385)Tct>Cct	p.S1795P	DSP_uc003mxq.1_Missense_Mutation_p.S1196P|DSP_uc021yle.1_Missense_Mutation_p.S1352P	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1795	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATTCCAGGCATCTAATAGGAT	0.353													C	7582878	T	C	7582878	3	2	228	1	0	0	0	0	1	0	0	0	4781	1435	50	4	5477	4	DSP	6	7582878	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08		7582878	163532189	52	15684											
PHACTR1	221692	broad.mit.edu	37	6	13278556	13278556	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:13278556C>G	uc003nah.2	+	11	1877	c.1504C>G	c.(1504-1506)Cga>Gga	p.R502G	PHACTR1_uc010jpc.3_Missense_Mutation_p.R502G|TBC1D7_uc003naj.3_Intron|TBC1D7_uc011dis.2_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	502						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGGCTAACCCGAAAGGTAGG	0.507													G	13278556	C	G	13278556	3	3	228	1	0	0	0	0	1	0	0	0	11809	644	23	5	1542	5	PHACTR1	6	13278556	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	5695678	13278556	157836511	53	15685											
SKIV2L	6499	broad.mit.edu	37	6	31933760	31933760	+	Silent	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:31933760C>A	uc003nyn.1	+	17	2561	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	SKIV2L_uc011dou.1_Silent_p.P566P|SKIV2L_uc011dov.1_Silent_p.P531P	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	724	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCGAGTGCCCGAGATGGCAG	0.652													A	31933760	C	A	31933760	2	1	228	1	0	0	0	0	0	0	0	1	14359	639	23	5		5	SKIV2L	6	31933760	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	18655204	31933760	139181307	54	15686											
BCLAF1	9774	broad.mit.edu	37	6	136597032	136597032	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:136597032C>T	uc003qgx.1	-	4	1884	c.1631G>A	c.(1630-1632)cGt>cAt	p.R544H	BCLAF1_uc003qgy.1_Missense_Mutation_p.R542H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R542H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R371H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	544					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R544H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GACTTCAGGACGGTGAGAATC	0.433													T	136597032	C	T	136597032	3	4	228	1	0	0	0	0	1	0	0	0	1383	536	19	1	1167	1	BCLAF1	6	136597032	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	104663272	136597032	34518035	55	15687											
SYNE1	23345	broad.mit.edu	37	6	152685991	152685991	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:152685991C>T	uc021zhb.1	-	60	10359	c.10136G>A	c.(10135-10137)cGt>cAt	p.R3379H	SYNE1_uc003qot.4_Missense_Mutation_p.R3386H|SYNE1_uc003qou.4_Missense_Mutation_p.R3379H|SYNE1_uc010kja.2_Missense_Mutation_p.R84H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3379					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			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)		CCTTTTACAACGAATCCCTGC	0.468										HNSCC(10;0.0054)			T	152685991	C	T	152685991	3	4	228	1	0	0	0	0	1	0	0	0	15442	536	19	1	16666	1	SYNE1	6	152685991	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	16088959	152685991	18429076	56	15688											
INMT	11185	broad.mit.edu	37	7	30795056	30795056	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:30795056G>A	uc003tbs.1	+	2	397	c.381G>A	c.(379-381)aaG>aaA	p.K127K	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.K126K	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	127						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGAGGAGAAGGAGGAGAAGC	0.637													A	30795056	G	A	30795056	2	1	228	1	0	0	0	0	0	0	0	1	7745	991	35	3		3	INMT	7	30795056	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08		30795056	128343607	57	15689											
SEPT7	989	broad.mit.edu	37	7	35872442	35872442	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:35872442C>T	uc010kxc.3	+	1	319	c.95C>T	c.(94-96)gCc>gTc	p.A32V	SEPT7_uc011kat.2_Missense_Mutation_p.A32V|SEPT7_uc011kau.2_Intron|SEPT7_uc011kav.2_5'UTR	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	34					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.V32G(1)|p.V32V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GTGGGATTTGCCAATCTCCCA	0.363													T	35872442	C	T	35872442	3	4	228	1	0	0	0	0	1	0	0	0	14069	739	26	3	105	3	SEPT7	7	35872442	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	5077386	35872442	123266221	58	15690											
COL1A2	1278	broad.mit.edu	37	7	94034005	94034005	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:94034005G>T	uc003ung.1	+	8	796	c.325_splice	c.e8-1	p.G109_splice	COL1A2_uc011kib.1_Splice_Site_p.G109_splice|COL1A2_uc022ahm.1_Splice_Site|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	109					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTTCTTTTAGGGCCCTCAAGG	0.403										HNSCC(75;0.22)			T	94034005	G	T	94034005	3	4	228	1	0	0	0	0	1	0	0	0	3678	1246	43	5	355	5	COL1A2	7	94034005	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	58161563	94034005	65104658	59	15691											
MUC17	140453	broad.mit.edu	37	7	100675953	100675953	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:100675953A>G	uc003uxp.1	+	2	1309	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	419	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					ATTCCTGTTGACTCCAAAACT	0.463													G	100675953	A	G	100675953	3	3	228	1	0	0	0	0	1	0	0	0	9974	275	10	4	1266	4	MUC17	7	100675953	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	6641948	100675953	58462710	60	15692											
MGAM	8972	broad.mit.edu	37	7	141736731	141736731	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:141736731C>T	uc003vwy.3	+	17	2239	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	729	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTCTTCTTCCGTGCTCACAG	0.493													T	141736731	C	T	141736731	3	4	228	1	0	0	0	0	1	0	0	0	9541	652	23	2	2251	2	MGAM	7	141736731	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	41060778	141736731	17401932	61	15693											
ZNF282	8427	broad.mit.edu	37	7	148921339	148921339	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:148921339G>A	uc003wfm.3	+	7	1721	c.1616G>A	c.(1615-1617)aGc>aAc	p.S539N	ZNF282_uc011kun.1_Splice_Site_p.P454_splice|ZNF282_uc003wfo.3_Missense_Mutation_p.A216T	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	539					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R538C(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CACCACCGCAGCCACACCAAG	0.682													A	148921339	G	A	148921339	3	1	228	1	0	0	0	0	1	0	0	0	17816	971	34	3	1646	3	ZNF282	7	148921339	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	7184608	148921339	10217324	62	15694											
TEX15	56154	broad.mit.edu	37	8	30694497	30694497	+	Silent	SNP	C	C	T	rs142941425		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:30694497C>T	uc003xil.3	-	2	8154	c.8154G>A	c.(8152-8154)gcG>gcA	p.A2718A		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2718										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)		GTGGCTCCCCCGCAAAATAAG	0.423													T	30694497	C	T	30694497	2	4	228	1	0	0	0	0	0	0	0	1	15776	639	23	2		2	TEX15	8	30694497	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08		30694497	115669525	63	15695											
PXDNL	137902	broad.mit.edu	37	8	52387561	52387561	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:52387561G>A	uc003xqu.4	-	6	766	c.665C>T	c.(664-666)gCt>gTt	p.A222V		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	222	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			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)				TGTTACTGAAGCAACTGCACG	0.463													A	52387561	G	A	52387561	3	1	228	1	0	0	0	0	1	0	0	0	12848	971	34	3	3794	3	PXDNL	8	52387561	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	21693064	52387561	93976461	64	15696											
TSNARE1	203062	broad.mit.edu	37	8	143436006	143436006	+	Missense_Mutation	SNP	T	T	C	rs117184426	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:143436006T>C	uc003ywj.3	-	0	119	c.80A>G	c.(79-81)cAg>cGg	p.Q27R	TSNARE1_uc011lju.2_Missense_Mutation_p.Q27R|TSNARE1_uc003ywk.3_Missense_Mutation_p.Q27R|TSNARE1_uc003ywl.4_Missense_Mutation_p.Q27R	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	27					vesicle-mediated transport	integral to membrane		p.Q27H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACCTAGGGGCTGACAGCCTTG	0.602													C	143436006	T	C	143436006	3	2	228	1	0	0	0	0	1	0	0	0	16627	1580	55	4	1509	4	TSNARE1	8	143436006	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	91048445	143436006	2928016	65	15697											
SPATC1	375686	broad.mit.edu	37	8	145095019	145095019	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:145095019C>G	uc011lkw.2	+	1	523	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	SPATC1_uc011lkx.2_Missense_Mutation_p.L141V	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	141										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCAGCTTCCTGACCAGTCC	0.682													G	145095019	C	G	145095019	3	3	228	1	0	0	0	0	1	0	0	0	15016	680	24	5	427	5	SPATC1	8	145095019	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	1659013	145095019	1269003	66	15698											
ADAMTSL1	92949	broad.mit.edu	37	9	18777020	18777020	+	Silent	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:18777020T>C	uc003zne.4	+	18	2945	c.2793T>C	c.(2791-2793)taT>taC	p.Y931Y		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	931	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTCGGCTATCTCAAGATCC	0.662													C	18777020	T	C	18777020	2	2	228	1	0	0	0	0	0	0	0	1	274	1442	50	4		4	ADAMTSL1	9	18777020	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08		18777020	122436411	67	15699											
NOL6	65083	broad.mit.edu	37	9	33467806	33467806	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:33467806C>T	uc003zsz.3	-	11	1586	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Silent_p.L495L|NOL6_uc010mjv.3_Silent_p.L492L|NOL6_uc011lob.2_Silent_p.L443L|NOL6_uc003ztb.1_Silent_p.L495L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	495					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CATTGTCCTGCAGCTCTGGCC	0.637													T	33467806	C	T	33467806	2	4	228	1	0	0	0	0	0	0	0	1	10525	697	25	3		3	NOL6	9	33467806	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	14690786	33467806	107745625	68	15700											
C9orf139	401563	broad.mit.edu	37	9	139929144	139929144	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:139929144C>T	uc004ckp.1	+	2	1725	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	71										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		TGTCCTGCCACGCCTGCGGGT	0.657													T	139929144	C	T	139929144	3	4	228	1	0	0	0	0	1	0	0	0	2459	536	19	1	217	1	C9orf139	9	139929144	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	106461338	139929144	1284287	69	15701											
IDI2	91734	broad.mit.edu	37	10	1065753	1065753	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:1065753A>T	uc001ifv.1	-	4	453	c.388T>A	c.(388-390)Ttc>Atc	p.F130I	IDI2-AS1_uc010qaf.1_5'Flank|IDI2-AS1_uc001ifx.3_5'Flank|IDI2-AS1_uc001ifw.3_5'Flank|IDI2-AS1_uc001ify.3_5'Flank	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.	130	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		ATTGTCATGAACACAATGTCC	0.373													T	1065753	A	T	1065753	3	4	228	1	0	0	0	0	1	0	0	0	7500	43	2	5	299	5	IDI2	10	1065753	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08		1065753	134468994	70	15702											
SYT15	83849	broad.mit.edu	37	10	46962073	46962073	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:46962073A>G	uc001jea.3	-	7	1316	c.1163T>C	c.(1162-1164)aTg>aCg	p.M388T	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.3_Missense_Mutation_p.M266T|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	388						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCGGGTGTACATGTAGGGGCC	0.672													G	46962073	A	G	46962073	3	3	228	1	0	0	0	0	1	0	0	0	15468	217	8	4	160	4	SYT15	10	46962073	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	45896320	46962073	88572674	71	15703											
JMJD1C	221037	broad.mit.edu	37	10	64950737	64950737	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:64950737G>A	uc001jmn.3	-	16	6508	c.6208C>T	c.(6208-6210)Ctg>Ttg	p.L2070L	JMJD1C_uc001jml.3_Silent_p.L1833L|JMJD1C_uc001jmm.3_Silent_p.L1782L|JMJD1C_uc010qiq.2_Silent_p.L1888L|JMJD1C_uc009xpi.3_Silent_p.L1888L|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmo.3_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	2070					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.L2070L(1)|p.L1833L(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)					GTTGTAGTCAGCAAATCCCGT	0.463													A	64950737	G	A	64950737	2	1	228	1	0	0	0	0	0	0	0	1	7950	962	34	3		3	JMJD1C	10	64950737	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	17988664	64950737	70584010	72	15704											
CALHM2	51063	broad.mit.edu	37	10	105207008	105207008	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:105207008C>G	uc001kxa.3	-	3	1484	c.873G>C	c.(871-873)caG>caC	p.Q291H	CALHM2_uc001kxc.3_3'UTR|CALHM2_uc001kxb.3_Missense_Mutation_p.Q291H	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	291						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GTGGGAGGCCCTGGTTCTCAC	0.627													G	105207008	C	G	105207008	3	3	228	1	0	0	0	0	1	0	0	0	2583	680	24	5	102	5	CALHM2	10	105207008	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	40256271	105207008	30327739	73	15705											
MUC2	4583	broad.mit.edu	37	11	1093681	1093681	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:1093681G>C	uc001lsx.1	+	32	5515	c.5488_splice	c.e32-1	p.G1830_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1915						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGAAGCACGGGGCCCCCCAC	0.617													C	1093681	G	C	1093681	3	2	228	1	0	0	0	0	1	0	0	0	9975	1246	43	5	5610	5	MUC2	11	1093681	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		1093681	133912835	74	15706											
CHRNA10	57053	broad.mit.edu	37	11	3688949	3688949	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:3688949C>T	uc001lyf.3	-	3	480	c.408G>A	c.(406-408)ctG>ctA	p.L136L	CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	136					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CATCGTGGCGCAGGACCACGT	0.731													T	3688949	C	T	3688949	2	4	228	1	0	0	0	0	0	0	0	1	3382	697	25	3		3	CHRNA10	11	3688949	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	2595268	3688949	131317567	75	15707											
QSER1	79832	broad.mit.edu	37	11	32979551	32979551	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:32979551C>T	uc001mty.3	+	7	4768	c.4501C>T	c.(4501-4503)Cgg>Tgg	p.R1501W	QSER1_uc001mtz.1_Missense_Mutation_p.R1262W|QSER1_uc001mua.3_Missense_Mutation_p.R1006W	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1501										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACCAAAGAAACGGAAAAAATG	0.413													T	32979551	C	T	32979551	3	4	228	1	0	0	0	0	1	0	0	0	12882	527	19	1	4523	1	QSER1	11	32979551	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	29290602	32979551	102026965	76	15708											
AGBL2	79841	broad.mit.edu	37	11	47726094	47726094	+	Splice_Site	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:47726094C>G	uc001ngg.3	-	7	888	c.586_splice	c.e7+1	p.E196_splice	AGBL2_uc010rhq.1_Splice_Site_p.E158_splice|AGBL2_uc001ngh.1_Splice_Site_p.E140_splice	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	196					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AGTCATATTACCAATATGATG	0.423													G	47726094	C	G	47726094	5	3	228	1	0	0	0	0	0	0	1	0	376	521	18	5	2173	5	AGBL2	11	47726094	Splice_Site	SNP	C	TCGA-32-2491-01A-01D-1353-08	14746543	47726094	87280422	77	15709											
EML3	256364	broad.mit.edu	37	11	62378668	62378668	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:62378668C>A	uc010rly.1	-	2	651	c.343G>T	c.(343-345)Gag>Tag	p.E115*	EML3_uc001ntr.1_Nonsense_Mutation_p.E87*|EML3_uc001nts.1_Nonsense_Mutation_p.E87*|EML3_uc001ntt.1_Missense_Mutation_p.K11N|EML3_uc001ntu.1_Nonsense_Mutation_p.E115*|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	115						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCGCTAGGCTCTTCGCTGGCC	0.697													A	62378668	C	A	62378668	4	1	228	1	0	0	0	0	0	1	0	0	5098	922	32	5	2427	5	EML3	11	62378668	Nonsense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	14652574	62378668	72627848	78	15710											
CCDC87	55231	broad.mit.edu	37	11	66358101	66358101	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:66358101C>T	uc001oiq.4	-	0	2454	c.2386G>A	c.(2386-2388)Gag>Aag	p.E796K	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	796								p.E796*(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATCACTGGCTCGCCAAAGATT	0.532													T	66358101	C	T	66358101	3	4	228	1	0	0	0	0	1	0	0	0	2862	893	31	2	167	2	CCDC87	11	66358101	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	3979433	66358101	68648415	79	15711											
FAT3	120114	broad.mit.edu	37	11	92535042	92535042	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:92535042G>A	uc001pdj.4	+	8	8880	c.8863G>A	c.(8863-8865)Gac>Aac	p.D2955N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2955	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				AGACACATCCGACGTTAATCG	0.522										TCGA Ovarian(4;0.039)			A	92535042	G	A	92535042	3	1	228	1	0	0	0	0	1	0	0	0	5691	1058	37	2	8897	2	FAT3	11	92535042	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	26176941	92535042	42471474	80	15712											
HEPHL1	341208	broad.mit.edu	37	11	93839268	93839268	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:93839268A>G	uc001pep.2	+	16	3174	c.3017A>G	c.(3016-3018)cAt>cGt	p.H1006R	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	1006	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CATACCATCCATTATCATGCT	0.353													G	93839268	A	G	93839268	3	3	228	1	0	0	0	0	1	0	0	0	7055	217	8	4	3083	4	HEPHL1	11	93839268	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	1304226	93839268	41167248	81	15713											
RNF26	79102	broad.mit.edu	37	11	119206267	119206267	+	Silent	SNP	T	T	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:119206267T>A	uc001pwh.3	+	0	1058	c.435T>A	c.(433-435)gcT>gcA	p.A145A		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	Homo sapiens ring finger protein 26 (RNF26), mRNA.	145	Leu-rich.						zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCTGGTGGCTTATGTGATCA	0.592													A	119206267	T	A	119206267	2	1	228	1	0	0	0	0	0	0	0	1	13486	1596	56	5		5	RNF26	11	119206267	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	25366999	119206267	15800249	82	15714											
KIAA0528	9847	broad.mit.edu	37	12	22602814	22602815	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:22602814_22602815delAA	uc010sit.2	-	27	3269_3270	c.3041_3042delTT	c.(3040-3042)cttfs	p.L1014fs	KIAA0528_uc010sir.2_Frame_Shift_Del_p.L817fs|KIAA0528_uc010sis.2_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfq.3_Frame_Shift_Del_p.L961fs|KIAA0528_uc010siu.2_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfr.3_Frame_Shift_Del_p.L1003fs	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	961							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTACATTTATAAGACACTGTGC	0.411													-	22602815	AA	-	22602814	7	5	228	1	0	1	0	1	0	0	0	0	8182	349	13	0	123	0	KIAA0528	12	22602814	Frame_Shift_Del	DEL	AA	TCGA-32-2491-01A-01D-1353-08		22602814	111249081	83	15715											
C12orf45	121053	broad.mit.edu	37	12	105380235	105380235	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:105380235C>G	uc001tlb.3	+	0	138	c.105C>G	c.(103-105)gaC>gaG	p.D35E		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	Homo sapiens chromosome 12 open reading frame 45 (C12orf45), mRNA.	35										large_intestine(1)|lung(2)	3						CGGGAAGCGACGGCCGCGGAG	0.706													G	105380235	C	G	105380235	3	3	228	1	0	0	0	0	1	0	0	0	1691	535	19	5	107	5	C12orf45	12	105380235	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	82777421	105380235	28471660	84	15716											
HVCN1	84329	broad.mit.edu	37	12	111099056	111099056	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:111099056G>A	uc001trs.1	-	3	384	c.219C>T	c.(217-219)gaC>gaT	p.D73D	HVCN1_uc001trq.1_Silent_p.D73D|HVCN1_uc001trt.1_Silent_p.D73D|HVCN1_uc010syd.1_Silent_p.D53D	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	73					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.P72P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CAGGGGCAACGTCAGGGGCTG	0.617													A	111099056	G	A	111099056	2	1	228	1	0	0	0	0	0	0	0	1	7462	1136	40	1		1	HVCN1	12	111099056	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	5718821	111099056	22752839	85	15717											
RB1	5925	broad.mit.edu	37	13	48955550	48955550	+	Nonsense_Mutation	SNP	C	C	T	rs121913304		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:48955550C>T	uc001vcb.3	+	16	1832	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	556	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R556*(10)|p.?(8)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGTGAACATCGAATCATGGA	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48955550	C	T	48955550	4	4	228	1	0	0	0	0	0	1	0	0	13098	876	31	2	1732	2	RB1	13	48955550	Nonsense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		48955550	66214328	86	15718											
OLFM4	10562	broad.mit.edu	37	13	53624151	53624151	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:53624151G>C	uc001vhl.3	+	4	874	c.778G>C	c.(778-780)Gtt>Ctt	p.V260L	OLFM4_uc001vhk.2_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	260	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACCGTCTGTGGTTCAGCTCAA	0.448													C	53624151	G	C	53624151	3	2	228	1	0	0	0	0	1	0	0	0	10855	1261	44	5	796	5	OLFM4	13	53624151	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	4668601	53624151	61545727	87	15719											
DCT	1638	broad.mit.edu	37	13	95121065	95121065	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:95121065G>A	uc010afh.3	-	1	957	c.530C>T	c.(529-531)gCc>gTc	p.A177V	DCT_uc001vlv.4_Missense_Mutation_p.A177V	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	177					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ACTGCAGTTGGCAAACTGCGG	0.458													A	95121065	G	A	95121065	3	1	228	1	0	0	0	0	1	0	0	0	4304	1203	42	3	1164	3	DCT	13	95121065	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	41496914	95121065	20048813	88	15720											
AKAP6	9472	broad.mit.edu	37	14	33014783	33014783	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:33014783G>T	uc001wrq.3	+	3	1094	c.924G>T	c.(922-924)gaG>gaT	p.E308D	AKAP6_uc010aml.3_Missense_Mutation_p.E305D	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	308					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTGGATGTGAGGAAGACAATG	0.488													T	33014783	G	T	33014783	3	4	228	1	0	0	0	0	1	0	0	0	455	991	35	5	934	5	AKAP6	14	33014783	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		33014783	74334757	89	15721											
SERPINA6	866	broad.mit.edu	37	14	94776220	94776220	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:94776220G>A	uc001ycv.3	-	2	841	c.737C>T	c.(736-738)tCg>tTg	p.S246L	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	246			S -> A (in dbSNP:rs2228541).		regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGGGAGCTCCGAGTCATGAAG	0.542													A	94776220	G	A	94776220	3	1	228	1	0	0	0	0	1	0	0	0	14093	1059	37	2	492	2	SERPINA6	14	94776220	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	61761437	94776220	12573320	90	15722											
SERPINA9	327657	broad.mit.edu	37	14	94935885	94935885	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:94935885A>G	uc001ydf.3	-	1	508	c.347T>C	c.(346-348)cTg>cCg	p.L116P	SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Missense_Mutation_p.L80P|SERPINA9_uc001ydh.1_Missense_Mutation_p.L116P|SERPINA9_uc001ydi.1_Missense_Mutation_p.L80P	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	98					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTTGAAGCCCAGGCCCTGGAG	0.567													G	94935885	A	G	94935885	3	3	228	1	0	0	0	0	1	0	0	0	14095	188	7	4	976	4	SERPINA9	14	94935885	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	159665	94935885	12413655	91	15723											
PCSK6	5046	broad.mit.edu	37	15	101933603	101933603	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr15:101933603G>A	uc002bxa.2	-	8	1334	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	PCSK6_uc010bpd.3_Silent_p.F211F|PCSK6_uc002bwy.3_Silent_p.F340F|PCSK6_uc010bpe.3_Silent_p.F337F|PCSK6_uc002bxb.2_Silent_p.F340F|PCSK6_uc002bxc.1_Silent_p.F340F|PCSK6_uc002bxd.1_Silent_p.F340F|PCSK6_uc002bxe.3_Silent_p.F340F|PCSK6_uc002bxg.1_Silent_p.F340F	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	341	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.F340F(4)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCCCAGACGAAAATGGAGC	0.627													A	101933603	G	A	101933603	2	1	228	1	0	0	0	0	0	0	0	1	11604	1049	37	2		2	PCSK6	15	101933603	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08		101933603	597789	92	15724											
ITGAD	3681	broad.mit.edu	37	16	31422196	31422196	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:31422196G>A	uc010cap.1	+	11	1402	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	ITGAD_uc002ebv.1_Silent_p.T451T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	451					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			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						TCACAGGGACGCAGGTTGGGC	0.657													A	31422196	G	A	31422196	2	1	228	1	0	0	0	0	0	0	0	1	7884	1074	38	1		1	ITGAD	16	31422196	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08		31422196	58932557	93	15725											
COQ9	57017	broad.mit.edu	37	16	57492187	57492187	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:57492187C>G	uc002elq.3	+	5	717	c.636C>G	c.(634-636)aaC>aaG	p.N212K	COQ9_uc002els.3_Missense_Mutation_p.N5K	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	212					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TCCCTCACAACATCCCGTCCA	0.562													G	57492187	C	G	57492187	3	3	228	1	0	0	0	0	1	0	0	0	3751	477	17	5	658	5	COQ9	16	57492187	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	26069991	57492187	32862566	94	15726											
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:7577568C>A	uc002gim.2	-	6	907	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.3_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)			A	7577568	C	A	7577568	3	1	228	1	0	0	0	0	1	0	0	0	16378	478	17	5	577	5	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		7577568	73617642	95	15727											
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:7578265A>T	uc002gim.2	-	5	778	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_uc002gig.1_Missense_Mutation_p.I195N|TP53_uc002gih.3_Missense_Mutation_p.I195N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63N|TP53_uc010cnf.1_Missense_Mutation_p.I63N|TP53_uc002gii.1_Missense_Mutation_p.I63N|TP53_uc010cni.1_Missense_Mutation_p.I195N|TP53_uc010cnh.1_Missense_Mutation_p.I195N|TP53_uc002gij.2_Missense_Mutation_p.I195N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102N|TP53_uc002gio.2_Missense_Mutation_p.I63N|TP53_uc010vug.2_Missense_Mutation_p.I156N|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(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)		TTCCACTCGGATAAGATGCTG	0.552		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)			T	7578265	A	T	7578265	3	4	228	1	0	0	0	0	1	0	0	0	16378	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	697	7578265	73616945	96	15728											
RAI1	10743	broad.mit.edu	37	17	17697820	17697820	+	Missense_Mutation	SNP	G	G	A	rs147708297		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:17697820G>A	uc002grm.3	+	2	2027	c.1558G>A	c.(1558-1560)Ggc>Agc	p.G520S	RAI1_uc002grn.1_Missense_Mutation_p.G520S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	520						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTACCTGAGCGGCTCCGAGGA	0.687													A	17697820	G	A	17697820	3	1	228	1	0	0	0	0	1	0	0	0	13007	1116	39	2	1560	2	RAI1	17	17697820	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10119555	17697820	63497390	97	15729											
SLC13A2	9058	broad.mit.edu	37	17	26818573	26818573	+	Silent	SNP	C	C	T	rs146824818		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:26818573C>T	uc010wan.2	+	4	907	c.840C>T	c.(838-840)atC>atT	p.I280I	SLC13A2_uc010wal.1_Silent_p.I188I|SLC13A2_uc010wam.2_Silent_p.I187I|SLC13A2_uc002hbh.3_Silent_p.I231I|SLC13A2_uc010wao.2_Silent_p.I188I|SLC13A2_uc002hbi.3_Silent_p.I160I	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	231						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCGCCAGCATCGGGGGCATCG	0.632													T	26818573	C	T	26818573	2	4	228	1	0	0	0	0	0	0	0	1	14392	874	31	2		2	SLC13A2	17	26818573	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	9120753	26818573	54376637	98	15730											
VAT1	10493	broad.mit.edu	37	17	41168349	41168349	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:41168349A>G	uc002icm.1	-	4	1193	c.1073T>C	c.(1072-1074)aTt>aCt	p.I358T	VAT1_uc010cyw.1_Missense_Mutation_p.I224T|VAT1_uc010whk.1_Missense_Mutation_p.I290T	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	358						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GACTGAGTCAATGTGGGGCTT	0.607													G	41168349	A	G	41168349	3	3	228	1	0	0	0	0	1	0	0	0	17126	101	4	4	116	4	VAT1	17	41168349	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	14349776	41168349	40026861	99	15731											
GRIN2C	2905	broad.mit.edu	37	17	72851132	72851132	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:72851132C>T	uc002jlt.1	-	1	256	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.V34M|GRIN2C_uc002jlv.1_Missense_Mutation_p.V34M	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	34					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CTAAACACCACAGCCACCGTC	0.706													T	72851132	C	T	72851132	3	4	228	1	0	0	0	0	1	0	0	0	6781	478	17	3	3649	3	GRIN2C	17	72851132	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	31682783	72851132	8344078	100	15732											
ADAMTS10	81794	broad.mit.edu	37	19	8661249	8661249	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:8661249C>T	uc002mkj.1	-	9	1406	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	ADAMTS10_uc002mkk.1_Missense_Mutation_p.V10I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	378	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCTCATTGACGCTGCAGCTT	0.662													T	8661249	C	T	8661249	3	4	228	1	0	0	0	0	1	0	0	0	256	536	19	1	2247	1	ADAMTS10	19	8661249	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		8661249	50467734	101	15733											
MUC16	94025	broad.mit.edu	37	19	9050207	9050207	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:9050207G>A	uc002mkp.3	-	4	31628	c.31424C>T	c.(31423-31425)aCc>aTc	p.T10475I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10477	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						AGCTGTGGTGGTGGTCTCCAT	0.483													A	9050207	G	A	9050207	3	1	228	1	0	0	0	0	1	0	0	0	9973	1261	44	3	12419	3	MUC16	19	9050207	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	388958	9050207	50078776	102	15734											
RAVER1	125950	broad.mit.edu	37	19	10434234	10434234	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:10434234G>A	uc002moa.3	-	3	896	c.816C>T	c.(814-816)tgC>tgT	p.C272C		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	255	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667													A	10434234	G	A	10434234	2	1	228	1	0	0	0	0	0	0	0	1	13094	1079	38	1		1	RAVER1	19	10434234	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	1384027	10434234	48694749	103	15735											
CYP4F8	11283	broad.mit.edu	37	19	15739191	15739191	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:15739191G>A	uc002nbi.3	+	10	1256	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	CYP4F8_uc010xoj.2_Missense_Mutation_p.A211T	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	399					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCCTACATTCGCCCGCGGCTG	0.637													A	15739191	G	A	15739191	3	1	228	1	0	0	0	0	1	0	0	0	4191	1087	38	1	1228	1	CYP4F8	19	15739191	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	5304957	15739191	43389792	104	15736											
OR10H1	26539	broad.mit.edu	37	19	15918727	15918727	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:15918727C>A	uc002nbq.2	-	0	210	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGCAGGTTGCCCAGCAGCGTG	0.597													A	15918727	C	A	15918727	3	1	228	1	0	0	0	0	1	0	0	0	10905	623	22	5	839	5	OR10H1	19	15918727	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	179536	15918727	43210256	105	15737											
EPS15L1	58513	broad.mit.edu	37	19	16515514	16515514	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:16515514A>G	uc002ndx.3	-	13	1319	c.1313T>C	c.(1312-1314)cTc>cCc	p.L438P	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.L328P|EPS15L1_uc002ndz.1_Missense_Mutation_p.L438P|EPS15L1_uc010xpf.1_Missense_Mutation_p.L341P|EPS15L1_uc002nea.1_Missense_Mutation_p.L438P|EPS15L1_uc010eah.1_Missense_Mutation_p.L438P|EPS15L1_uc002neb.1_Missense_Mutation_p.L284P|EPS15L1_uc002nec.1_Missense_Mutation_p.L438P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	438					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTGAGCCTCGAGCTCCTGCAA	0.542													G	16515514	A	G	16515514	3	3	228	1	0	0	0	0	1	0	0	0	5193	304	11	4	1321	4	EPS15L1	19	16515514	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	596787	16515514	42613469	106	15738											
PRX	57716	broad.mit.edu	37	19	40901148	40901148	+	Silent	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:40901148T>C	uc002onr.3	-	6	3380	c.3111A>G	c.(3109-3111)gaA>gaG	p.E1037E	PRX_uc002onq.3_Silent_p.E898E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1037					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.E1037Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGCACTAGTTCTGCTGCCT	0.627													C	40901148	T	C	40901148	2	2	228	1	0	0	0	0	0	0	0	1	12642	1722	60	4		4	PRX	19	40901148	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	24385634	40901148	18227835	107	15739											
C19orf54	284325	broad.mit.edu	37	19	41248416	41248416	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:41248416G>A	uc002oou.1	-	5	1098	c.978C>T	c.(976-978)taC>taT	p.Y326Y	C19orf54_uc002oow.1_Silent_p.Y154Y|C19orf54_uc002oox.1_Intron|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.	326										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGGCACCACGTACACCCGGC	0.662													A	41248416	G	A	41248416	2	1	228	1	0	0	0	0	0	0	0	1	1936	1140	40	1		1	C19orf54	19	41248416	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	347268	41248416	17880567	108	15740											
FOXA3	3171	broad.mit.edu	37	19	46375547	46375547	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:46375547C>T	uc002pdr.3	+	1	481	c.284C>T	c.(283-285)cCg>cTg	p.P95L		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	95					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TACGGGGCCCCGGGTCCTGGG	0.682													T	46375547	C	T	46375547	3	4	228	1	0	0	0	0	1	0	0	0	5991	652	23	2	290	2	FOXA3	19	46375547	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	5127131	46375547	12753436	109	15741											
MYH14	79784	broad.mit.edu	37	19	50713834	50713834	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:50713834G>A	uc010enu.1	+	1	259	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	MYH14_uc002prq.1_Missense_Mutation_p.R71Q|MYH14_uc002prr.1_Missense_Mutation_p.R71Q	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	71	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGCGCTGCGGGACGAAGGC	0.736													A	50713834	G	A	50713834	3	1	228	1	0	0	0	0	1	0	0	0	10033	1116	39	2	214	2	MYH14	19	50713834	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	4338287	50713834	8415149	110	15742											
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:53644386T>A	uc002qbc.2	-	4	2125	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_uc002qbb.2_Silent_p.G565G|ZNF347_uc010eql.2_Silent_p.G566G	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E566*(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408													A	53644386	T	A	53644386	2	1	228	1	0	0	0	0	0	0	0	1	17858	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	2930552	53644386	5484597	111	15743											
BIRC8	112401	broad.mit.edu	37	19	53793037	53793037	+	Silent	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:53793037G>A	uc002qbk.3	-	0	1839	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	197					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAACAACAGCGATATGTCTGT	0.443													A	53793037	G	A	53793037	2	1	228	1	0	0	0	0	0	0	0	1	1440	1048	37	2		2	BIRC8	19	53793037	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	148651	53793037	5335946	112	15744											
C20orf118	140711	broad.mit.edu	37	20	35507541	35507541	+	Missense_Mutation	SNP	G	G	A	rs147682253		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:35507541G>A	uc002xgg.1	+	2	295	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	C20orf118_uc021wcz.1_Missense_Mutation_p.R96Q	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	96	TLD.									kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				CTGTACCGGCGGATGGAGGGC	0.667													A	35507541	G	A	35507541	3	1	228	1	0	0	0	0	1	0	0	0	2084	1116	39	2	297	2	C20orf118	20	35507541	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		35507541	27517979	113	15745											
NEURL2	140825	broad.mit.edu	37	20	44519558	44519558	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:44519558G>A	uc002xqg.1	-	0	344	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	CTSA_uc002xqh.3_5'Flank|CTSA_uc002xqj.4_5'Flank|CTSA_uc010zxi.2_5'Flank|CTSA_uc002xqi.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	Homo sapiens neuralized homolog 2 (Drosophila) (NEURL2), mRNA.	25	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CGATGGAAGCGGGTGGGAGGG	0.711													A	44519558	G	A	44519558	3	1	228	1	0	0	0	0	1	0	0	0	10346	1116	39	2	792	2	NEURL2	20	44519558	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	9012017	44519558	18505962	114	15746											
NFATC2	4773	broad.mit.edu	37	20	50140360	50140360	+	Silent	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:50140360C>T	uc002xwd.3	-	1	640	c.420G>A	c.(418-420)ccG>ccA	p.P140P	NFATC2_uc002xwc.3_Silent_p.P140P|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Silent_p.P120P|NFATC2_uc010zyx.2_Silent_p.P120P|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	140	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGCCAGGGGCGGCTGCTCCA	0.721													T	50140360	C	T	50140360	2	4	228	1	0	0	0	0	0	0	0	1	10362	755	27	1		1	NFATC2	20	50140360	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	5620802	50140360	12885160	115	15747											
LAMA5	3911	broad.mit.edu	37	20	60912694	60912694	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:60912694G>A	uc002ycq.3	-	15	2183	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	LAMA5_uc021wfw.1_Missense_Mutation_p.R706W	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	706	Laminin EGF-like 8.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGTCACACCGCAGCCCCGTC	0.667													A	60912694	G	A	60912694	3	1	228	1	0	0	0	0	1	0	0	0	8609	1086	38	1	9231	1	LAMA5	20	60912694	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10772334	60912694	2112826	116	15748											
APP	351	broad.mit.edu	37	21	27369692	27369692	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr21:27369692G>A	uc002ylz.3	-	7	1273	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	APP_uc010glk.3_Intron|APP_uc002yma.3_Intron|APP_uc011ach.2_Missense_Mutation_p.A302V|APP_uc021whz.1_Missense_Mutation_p.A358V|APP_uc021wia.1_Intron|APP_uc002ymb.3_Intron|APP_uc010glj.3_Intron|APP_uc021wib.1_Intron|APP_uc011aci.2_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	358					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGGATCTCGGGCAAGAGGTTC	0.438													A	27369692	G	A	27369692	3	1	228	1	0	0	0	0	1	0	0	0	815	1203	42	3	1283	3	APP	21	27369692	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		27369692	20760203	117	15749											
TOP3B	8940	broad.mit.edu	37	22	22317253	22317253	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:22317253C>A	uc002zvs.3	-	11	1652	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L	TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Missense_Mutation_p.W406L|TOP3B_uc010gtl.3_Missense_Mutation_p.W406L	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	406					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		ATAGAGCCGCCACGCGTCACC	0.617													A	22317253	C	A	22317253	3	1	228	1	0	0	0	0	1	0	0	0	16365	595	21	5	1399	5	TOP3B	22	22317253	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		22317253	28987313	118	15750											
ADRBK2	157	broad.mit.edu	37	22	26086159	26086159	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:26086159G>A	uc003abx.4	+	11	1108	c.961G>A	c.(961-963)Gca>Aca	p.A321T	ADRBK2_uc010gux.3_Missense_Mutation_p.A321T|ADRBK2_uc003abw.2_Missense_Mutation_p.A208T|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	321	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TGTTTAGCCAGCAAATATTCT	0.398													A	26086159	G	A	26086159	3	1	228	1	0	0	0	0	1	0	0	0	344	971	34	3	1007	3	ADRBK2	22	26086159	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	3768906	26086159	25218407	119	15751											
OSBP2	23762	broad.mit.edu	37	22	31137264	31137264	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:31137264T>G	uc003aiy.1	+	1	865	c.761T>G	c.(760-762)cTc>cGc	p.L254R	OSBP2_uc011ala.1_Missense_Mutation_p.L89R|OSBP2_uc010gwc.1_Missense_Mutation_p.L81R|OSBP2_uc003aix.1_Missense_Mutation_p.L254R|OSBP2_uc011alb.1_Missense_Mutation_p.L254R|OSBP2_uc003aiz.1_Missense_Mutation_p.L254R	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	254	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGCTACCACCTCAAGGCCAGC	0.612													G	31137264	T	G	31137264	3	3	228	1	0	0	0	0	1	0	0	0	11274	1551	54	5	767	5	OSBP2	22	31137264	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	5051105	31137264	20167302	120	15752											
MORC2	22880	broad.mit.edu	37	22	31336801	31336801	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:31336801C>T	uc003aje.1	-	10	2026	c.662G>A	c.(661-663)cGt>cAt	p.R221H		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	283							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGTCTTGAAACGGCTTGACGT	0.567													T	31336801	C	T	31336801	3	4	228	1	0	0	0	0	1	0	0	0	9702	536	19	1	2318	1	MORC2	22	31336801	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	199537	31336801	19967765	121	15753											
DACH2	117154	broad.mit.edu	37	X	85403790	85403790	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:85403790G>A	uc004eew.2	+	0	336	c.166G>A	c.(166-168)Gga>Aga	p.G56R	DACH2_uc004eex.2_Missense_Mutation_p.G56R|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	56	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.G56R(3)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAACAGTGCCGGAGGCGGCGG	0.567													A	85403790	G	A	85403790	3	1	228	1	0	0	0	0	1	0	0	0	4221	1117	39	2	168	2	DACH2	23	85403790	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		85403790	69866770	122	15754											
SRPX2	27286	broad.mit.edu	37	X	99925877	99925877	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:99925877T>C	uc004egb.3	+	10	1771	c.1291T>C	c.(1291-1293)Tac>Cac	p.Y431H		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	431					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCGAGACCGCTACATGGAACC	0.512											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	99925877	T	C	99925877	3	2	228	1	0	0	0	0	1	0	0	0	15164	1522	53	4	1329	4	SRPX2	23	99925877	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	14522087	99925877	55344683	123	15755											
ZCCHC18	644353	broad.mit.edu	37	X	103359839	103359839	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:103359839C>G	uc011msh.2	+	2	2353	c.1037C>G	c.(1036-1038)aCa>aGa	p.T346R	SLC25A53_uc004elu.3_Intron|ZCCHC18_uc011msg.2_Intron	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN	Homo sapiens zinc finger, CCHC domain containing 18 (ZCCHC18), transcript variant 1, mRNA.	346							nucleic acid binding|zinc ion binding										CGAAAATACACAACCCGCTGT	0.483													G	103359839	C	G	103359839	3	3	228	1	0	0	0	0	1	0	0	0	17583	478	17	5	1039	5	ZCCHC18	23	103359839	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	3433962	103359839	51910721	124	15756											
SPEN	23013	broad.mit.edu	37	1	16260498	16260498	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:16260498C>G	uc001axk.1	+	10	7967	c.7763C>G	c.(7762-7764)cCt>cGt	p.P2588R	SPEN_uc010obp.1_Missense_Mutation_p.P2547R	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2588	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAACAGCACCTCCAGTGACA	0.522													G	16260498	C	G	16260498	3	3	229	1	0	0	0	0	1	0	0	0	15037	681	24	5	7805	5	SPEN	1	16260498	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		16260498	232990123	1	15757											
CLCNKA	1188	broad.mit.edu	37	1	16377403	16377403	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:16377403G>A	uc001axx.4	+	11	1223	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Missense_Mutation_p.D194N|CLCNKA_uc001axy.4_Missense_Mutation_p.D194N	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	363					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTCGCTGTTCGACAACCACTC	0.672													A	16377403	G	A	16377403	3	1	229	1	0	0	0	0	1	0	0	0	3469	1058	37	2		2	CLCNKA	1	16377403	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	116905	16377403	232873218	2	15758											
LDLRAD2	401944	broad.mit.edu	37	1	22140914	22140914	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:22140914C>G	uc001bfg.1	+	1	296	c.109C>G	c.(109-111)Cag>Gag	p.Q37E		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA.	37						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACTGTGCGGGCAGACGTGGCA	0.701													G	22140914	C	G	22140914	3	3	229	1	0	0	0	0	1	0	0	0	8706	711	25	5	115	5	LDLRAD2	1	22140914	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	5763511	22140914	227109707	3	15759											
HSPG2	3339	broad.mit.edu	37	1	22165399	22165399	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:22165399G>A	uc009vqd.3	-	73	10112	c.10072C>T	c.(10072-10074)Cct>Tct	p.P3358S	HSPG2_uc001bfj.3_Missense_Mutation_p.P3357S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3357	Ig-like C2-type 19.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GAGTCCTCAGGGGCTGCACGC	0.682													A	22165399	G	A	22165399	3	1	229	1	0	0	0	0	1	0	0	0	7430	1232	43	3	3202	3	HSPG2	1	22165399	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	24485	22165399	227085222	4	15760											
ELAVL4	1996	broad.mit.edu	37	1	50610767	50610767	+	Missense_Mutation	SNP	G	G	A	rs116391279	by1000genomes	TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:50610767G>A	uc001csb.2	+	1	416	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	ELAVL4_uc001cry.3_Missense_Mutation_p.V53I|ELAVL4_uc001crz.3_Missense_Mutation_p.V50I|ELAVL4_uc001csa.3_Missense_Mutation_p.V67I|ELAVL4_uc001csc.3_Missense_Mutation_p.V50I|ELAVL4_uc009vyu.3_Missense_Mutation_p.V55I|ELAVL4_uc010omz.2_Missense_Mutation_p.V55I	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	50	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.I49I(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CAACCTCATCGTCAACTATTT	0.448													A	50610767	G	A	50610767	3	1	229	1	0	0	0	0	1	0	0	0	5052	1145	40	1	253	1	ELAVL4	1	50610767	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	28445368	50610767	198639854	5	15761											
DMRTB1	63948	broad.mit.edu	37	1	53925199	53925199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:53925199G>T	uc001cvq.1	+	0	128	c.73G>T	c.(73-75)Gga>Tga	p.G25*		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	25					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCCCGTCAAGGGACACGCGGG	0.602													T	53925199	G	T	53925199	4	4	229	1	0	0	0	0	0	1	0	0	4590	1233	43	5	75	5	DMRTB1	1	53925199	Nonsense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3314432	53925199	195325422	6	15762											
ARHGAP29	9411	broad.mit.edu	37	1	94650593	94650594	+	Frame_Shift_Ins	INS	-	-	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:94650593_94650594insT	uc001dqj.4	-	17	2312_2313	c.1943_1944insA	c.(1942-1944)aagfs	p.K648fs	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Frame_Shift_Ins_p.K214fs	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	648					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.R647Q(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTCCAAACACTTTCGATGACA	0.361													T	94650594	-	T	94650593	7	5	229	1	0	1	1	0	0	0	0	0	878	564	20	0	1865	0	ARHGAP29	1	94650593	Frame_Shift_Ins	INS	-	TCGA-32-2494-01A-01D-1353-08	40725394	94650593	154600028	7	15763											
CD2	914	broad.mit.edu	37	1	117311354	117311354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:117311354delA	uc001egu.4	+	4	1034	c.1005delA	c.(1003-1005)ccafs	p.P335fs		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	335	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GAGTTCAGCCAAAACCTCCCC	0.517													-	117311354	A	-	117311354	7	5	229	1	0	1	0	1	0	0	0	0	2979	117	5	0	1023	0	CD2	1	117311354	Frame_Shift_Del	DEL	A	TCGA-32-2494-01A-01D-1353-08	22660761	117311354	131939267	8	15764											
OR10R2	343406	broad.mit.edu	37	1	158450132	158450132	+	Silent	SNP	T	T	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:158450132T>C	uc010pik.2	+	0	465	c.465T>C	c.(463-465)ctT>ctC	p.L155L	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACCCCACTCTTATGAGCTGGC	0.473													C	158450132	T	C	158450132	2	2	229	1	0	0	0	0	0	0	0	1	10917	1741	61	4		4	OR10R2	1	158450132	Silent	SNP	T	TCGA-32-2494-01A-01D-1353-08	41138778	158450132	90800489	9	15765											
RCSD1	92241	broad.mit.edu	37	1	167667016	167667016	+	Silent	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:167667016C>T	uc001gem.3	+	5	1342	c.1155C>T	c.(1153-1155)acC>acT	p.T385T	RCSD1_uc010pli.2_Silent_p.T355T	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	385										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCCCCCAGACCGGCCCTGCCC	0.642													T	167667016	C	T	167667016	2	4	229	1	0	0	0	0	0	0	0	1	13185	639	23	2		2	RCSD1	1	167667016	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	9216884	167667016	81583605	10	15766											
NME7	29922	broad.mit.edu	37	1	169138771	169138771	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:169138771G>A	uc001gfu.3	-	10	1250	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	NME7_uc001gft.3_Missense_Mutation_p.P302S|NME7_uc010plq.2_Non-coding_Transcript	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.	338					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGAGTTCCAGGGCGTAAATGC	0.368													A	169138771	G	A	169138771	3	1	229	1	0	0	0	0	1	0	0	0	10496	1232	43	3	126	3	NME7	1	169138771	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	1471755	169138771	80111850	11	15767											
LAMC1	3915	broad.mit.edu	37	1	183111900	183111900	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:183111900A>G	uc001gpy.4	+	27	5062	c.4805A>G	c.(4804-4806)aAc>aGc	p.N1602S		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1602	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGCTTCAACACCCCGTCC	0.527													G	183111900	A	G	183111900	3	3	229	1	0	0	0	0	1	0	0	0	8614	43	2	4	4915	4	LAMC1	1	183111900	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	13973129	183111900	66138721	12	15768											
HMCN1	83872	broad.mit.edu	37	1	186107024	186107024	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:186107024A>T	uc001grq.1	+	88	14073	c.13844A>T	c.(13843-13845)aAt>aTt	p.N4615I	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.N184I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4615	TSP type-1 2.				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						ACTTGCAATAATCCATCAGTT	0.493													T	186107024	A	T	186107024	3	4	229	1	0	0	0	0	1	0	0	0	7220	101	4	5	14198	5	HMCN1	1	186107024	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	2995124	186107024	63143597	13	15769											
LGALS8	3964	broad.mit.edu	37	1	236711404	236711404	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:236711404T>A	uc001hxz.2	+	10	1278	c.897T>A	c.(895-897)agT>agA	p.S299R	LGALS8_uc001hxw.2_Missense_Mutation_p.S341R|LGALS8_uc001hxy.2_Missense_Mutation_p.S341R|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.S299R|LGALS8_uc001hyc.2_Missense_Mutation_p.S282R	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	299	Galectin 2.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCTCAGCAGTATTGACACGC	0.408													A	236711404	T	A	236711404	3	1	229	1	0	0	0	0	1	0	0	0	8747	1635	57	5	1061	5	LGALS8	1	236711404	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	50604380	236711404	12539217	14	15770											
LHCGR	3973	broad.mit.edu	37	2	48915481	48915481	+	Silent	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:48915481C>A	uc002rwu.4	-	10	1525	c.1455G>T	c.(1453-1455)ctG>ctT	p.L485L	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	485					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CAAGCATAATCAGAATGGCAT	0.453													A	48915481	C	A	48915481	2	1	229	1	0	0	0	0	0	0	0	1	8762	813	29	5		5	LHCGR	2	48915481	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		48915481	194283892	15	15771											
CKAP2L	150468	broad.mit.edu	37	2	113514209	113514209	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:113514209C>T	uc002tie.2	-	3	818	c.739G>A	c.(739-741)Gga>Aga	p.G247R	CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.G82R|CKAP2L_uc010yxq.1_Missense_Mutation_p.G82R	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	247						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGTGTTTCTCCAACAAATTGT	0.403													T	113514209	C	T	113514209	3	4	229	1	0	0	0	0	1	0	0	0	3443	603	21	3	1522	3	CKAP2L	2	113514209	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	64598728	113514209	129685164	16	15772											
TRAK2	66008	broad.mit.edu	37	2	202250994	202250994	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:202250994G>T	uc002uyb.4	-	13	2356	c.1910C>A	c.(1909-1911)cCa>cAa	p.P637Q		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	637				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding	p.P637Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CCCTGTTACTGGCTTGGATGT	0.418													T	202250994	G	T	202250994	3	4	229	1	0	0	0	0	1	0	0	0	16447	1348	47	5	846	5	TRAK2	2	202250994	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	88736785	202250994	40948379	17	15773											
CNTN6	27255	broad.mit.edu	37	3	1339583	1339583	+	Silent	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:1339583G>T	uc003boz.3	+	6	936	c.669G>T	c.(667-669)ggG>ggT	p.G223G	CNTN6_uc010hbo.2_Silent_p.G218G|CNTN6_uc011asj.2_Silent_p.G151G|CNTN6_uc003bpa.3_Silent_p.G223G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	223					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.G223W(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTGTGATGGGGGAATATGAAC	0.358													T	1339583	G	T	1339583	2	4	229	1	0	0	0	0	0	0	0	1	3645	1219	43	5		5	CNTN6	3	1339583	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		1339583	196682847	18	15774											
ITPR1	3708	broad.mit.edu	37	3	4856788	4856788	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:4856788G>A	uc003bqc.3	+	57	8058	c.7708G>A	c.(7708-7710)Gtc>Atc	p.V2570I	ITPR1_uc021wsi.1_Missense_Mutation_p.V2537I|ITPR1_uc021wsj.1_Missense_Mutation_p.V2522I|ITPR1_uc011asu.2_Missense_Mutation_p.V548I|ITPR1_uc010hcc.2_Missense_Mutation_p.V305I|ITPR1_uc011asv.2_Missense_Mutation_p.V261I	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2585					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTTCTTCATGGTCATCATCAT	0.448													A	4856788	G	A	4856788	3	1	229	1	0	0	0	0	1	0	0	0	7920	1261	44	3	7979	3	ITPR1	3	4856788	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3517205	4856788	193165642	19	15775											
ATP2B2	491	broad.mit.edu	37	3	10452358	10452358	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:10452358G>A	uc003bvt.3	-	2	780	c.341C>T	c.(340-342)gCc>gTc	p.A114V	ATP2B2_uc003bvv.3_Missense_Mutation_p.A114V|ATP2B2_uc003bvw.3_Missense_Mutation_p.A114V|ATP2B2_uc010hdp.2_Missense_Mutation_p.A114V|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	114					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGGCGGCAATCTCCAG	0.592													A	10452358	G	A	10452358	3	1	229	1	0	0	0	0	1	0	0	0	1140	1203	42	3	3474	3	ATP2B2	3	10452358	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	5595570	10452358	187570072	20	15776											
C3orf20	84077	broad.mit.edu	37	3	14799018	14799018	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:14799018A>C	uc003byy.3	+	12	2533	c.2081A>C	c.(2080-2082)gAc>gCc	p.D694A	C3orf20_uc003byz.3_Missense_Mutation_p.D572A|C3orf20_uc003bza.3_Missense_Mutation_p.D572A|C3orf20_uc003bzb.1_Missense_Mutation_p.D195A|C3orf20_uc011avj.2_Missense_Mutation_p.D21A	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	694						cytoplasm|integral to membrane		p.D694D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGGTCTCTGACGTGGAGCTG	0.632													C	14799018	A	C	14799018	3	2	229	1	0	0	0	0	1	0	0	0	2213	275	10	5	2123	5	C3orf20	3	14799018	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	4346660	14799018	183223412	21	15777											
MYRIP	25924	broad.mit.edu	37	3	40231528	40231528	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:40231528G>A	uc003cka.3	+	9	1374	c.1239G>A	c.(1237-1239)agG>agA	p.R413R	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R413R|MYRIP_uc010hhw.3_Silent_p.R324R|MYRIP_uc011ayz.2_Silent_p.R226R|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	413	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGTGTCCCAGGTCCCGGGCCC	0.637													A	40231528	G	A	40231528	2	1	229	1	0	0	0	0	0	0	0	1	10100	1252	44	3		3	MYRIP	3	40231528	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	25432510	40231528	157790902	22	15778											
PIK3CB	5291	broad.mit.edu	37	3	138374244	138374244	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:138374244T>G	uc011bmq.2	-	21	3200	c.3200A>C	c.(3199-3201)gAc>gCc	p.D1067A	PIK3CB_uc011bmn.2_Missense_Mutation_p.D579A|PIK3CB_uc011bmo.2_Missense_Mutation_p.D518A|PIK3CB_uc011bmp.2_Missense_Mutation_p.D654A|PIK3CB_uc003est.1_Non-coding_Transcript	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	1067	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D1067V(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGATCTGTAGTCTTTCCGAAC	0.408													G	138374244	T	G	138374244	3	3	229	1	0	0	0	0	1	0	0	0	11914	1667	58	5	14	5	PIK3CB	3	138374244	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	98142716	138374244	59648186	23	15779											
PIK3CB	5291	broad.mit.edu	37	3	138374281	138374281	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:138374281T>C	uc011bmq.2	-	21	3163	c.3163A>G	c.(3163-3165)Act>Gct	p.T1055A	PIK3CB_uc011bmn.2_Missense_Mutation_p.T567A|PIK3CB_uc011bmo.2_Missense_Mutation_p.T506A|PIK3CB_uc011bmp.2_Missense_Mutation_p.T642A|PIK3CB_uc003est.1_Non-coding_Transcript	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	1055	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTCACTTTAGTAGTCCAGCTT	0.413													C	138374281	T	C	138374281	3	2	229	1	0	0	0	0	1	0	0	0	11914	1638	57	4	51	4	PIK3CB	3	138374281	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	37	138374281	59648149	24	15780											
KCNAB1	7881	broad.mit.edu	37	3	155838668	155838668	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:155838668C>T	uc003far.2	+	0	332	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	KCNAB1_uc011bon.1_Missense_Mutation_p.P90S	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	90						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CACAGGCATGCCGCACAGGTA	0.592													T	155838668	C	T	155838668	3	4	229	1	0	0	0	0	1	0	0	0	8009	739	26	3	270	3	KCNAB1	3	155838668	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	17464387	155838668	42183762	25	15781											
VPS8	23355	broad.mit.edu	37	3	184543975	184543975	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:184543975C>G	uc021xik.1	+	1	266	c.178C>G	c.(178-180)Cct>Gct	p.P60A	VPS8_uc003fpb.1_Missense_Mutation_p.P60A|VPS8_uc010hyd.1_Missense_Mutation_p.P60A|VPS8_uc003fpc.1_Missense_Mutation_p.P60A	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	60							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTTTGATATTCCTCAAGTTGA	0.318													G	184543975	C	G	184543975	3	3	229	1	0	0	0	0	1	0	0	0	17215	855	30	5	184	5	VPS8	3	184543975	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	28705307	184543975	13478455	26	15782											
ACAP2	23527	broad.mit.edu	37	3	195012473	195012473	+	Silent	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:195012473C>T	uc003fun.4	-	19	2266	c.2025G>A	c.(2023-2025)cgG>cgA	p.R675R		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	675					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCAATGGTCCCCGCCCTTGGA	0.413													T	195012473	C	T	195012473	2	4	229	1	0	0	0	0	0	0	0	1	119	610	22	3		3	ACAP2	3	195012473	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	10468498	195012473	3009957	27	15783											
AFP	174	broad.mit.edu	37	4	74316398	74316398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:74316398delA	uc003hgz.1	+	10	1403	c.1356delA	c.(1354-1356)agafs	p.R452fs	AFP_uc011cbg.1_Frame_Shift_Del_p.R226fs	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	452	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCATCACCAGAAAAATGGCAG	0.517									Alpha-Fetoprotein, Hereditary Persistence of				-	74316398	A	-	74316398	7	5	229	1	0	1	0	1	0	0	0	0	363	243	9	0	1398	0	AFP	4	74316398	Frame_Shift_Del	DEL	A	TCGA-32-2494-01A-01D-1353-08		74316398	116837878	28	15784											
AFF1	4299	broad.mit.edu	37	4	88048823	88048823	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:88048823G>A	uc011ccz.2	+	15	3207	c.2932G>A	c.(2932-2934)Gca>Aca	p.A978T	AFF1_uc003hqj.4_Missense_Mutation_p.A971T|AFF1_uc003hqk.4_Missense_Mutation_p.A971T|AFF1_uc011cda.2_Missense_Mutation_p.A609T	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	971						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CATGAGGGAGGCAAAAAAGAT	0.378													A	88048823	G	A	88048823	3	1	229	1	0	0	0	0	1	0	0	0	356	1203	42	3	3011	3	AFF1	4	88048823	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	13732425	88048823	103105453	29	15785											
NR3C2	4306	broad.mit.edu	37	4	149181209	149181209	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:149181209A>C	uc003ilj.4	-	2	2181	c.1818T>G	c.(1816-1818)tgT>tgG	p.C606W	NR3C2_uc003ilk.4_Missense_Mutation_p.C606W|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	606					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CCTCATCCCCACACACCAAAC	0.413													C	149181209	A	C	149181209	3	2	229	1	0	0	0	0	1	0	0	0	10631	157	6	5	1164	5	NR3C2	4	149181209	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	61132386	149181209	41973067	30	15786											
POC5	134359	broad.mit.edu	37	5	74998543	74998543	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr5:74998543T>C	uc003keh.4	-	4	597	c.400A>G	c.(400-402)Aca>Gca	p.T134A	POC5_uc010izu.3_Missense_Mutation_p.T17A|POC5_uc003keg.4_Missense_Mutation_p.T109A	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	Homo sapiens POC5 centriolar protein homolog (Chlamydomonas) (POC5), transcript variant 1, mRNA.	134					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTAGAATTTGTTGCTGGTGAG	0.403													C	74998543	T	C	74998543	3	2	229	1	0	0	0	0	1	0	0	0	12177	1725	60	4	1359	4	POC5	5	74998543	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08		74998543	105916717	31	15787											
HIVEP1	3096	broad.mit.edu	37	6	12121493	12121493	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:12121493G>A	uc003nac.3	+	3	1644	c.1465G>A	c.(1465-1467)Gta>Ata	p.V489I	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	489					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.V489I(2)		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)				TCATTCAGACGTAGAAGACAG	0.527													A	12121493	G	A	12121493	3	1	229	1	0	0	0	0	1	0	0	0	7186	1145	40	1	1475	1	HIVEP1	6	12121493	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		12121493	158993574	32	15788											
SNX14	57231	broad.mit.edu	37	6	86258062	86258062	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:86258062G>C	uc003pkr.3	-	8	1017	c.824C>G	c.(823-825)tCt>tGt	p.S275C	SNX14_uc003pkp.3_Missense_Mutation_p.S138C|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.S223C|SNX14_uc003pks.3_Missense_Mutation_p.S231C|SNX14_uc003pkt.3_Missense_Mutation_p.S275C	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	275	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CACAGAGCCAGACAGAATCTC	0.279													C	86258062	G	C	86258062	3	2	229	1	0	0	0	0	1	0	0	0	14885	942	33	5	2100	5	SNX14	6	86258062	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	74136569	86258062	84857005	33	15789											
SIM1	6492	broad.mit.edu	37	6	100901720	100901720	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:100901720C>T	uc003pqj.4	-	2	643	c.176_splice	c.e2-1	p.G59_splice	SIM1_uc021zdg.1_Splice_Site_p.G59_splice|SIM1_uc010kcu.3_Splice_Site_p.G59_splice	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	59					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCGCCGAGCCCTGTGGAGAC	0.627													T	100901720	C	T	100901720	3	4	229	1	0	0	0	0	1	0	0	0	14323	637	22	3	2164	3	SIM1	6	100901720	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	14643658	100901720	70213347	34	15790											
BVES	11149	broad.mit.edu	37	6	105549004	105549004	+	Missense_Mutation	SNP	G	G	A	rs138992583		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:105549004G>A	uc003pqw.3	-	7	1200	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	BVES_uc003pqx.3_Missense_Mutation_p.P348L|BVES_uc003pqy.3_Missense_Mutation_p.P348L	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	348					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGGAGATGCCGGTTCAAAAAC	0.453													A	105549004	G	A	105549004	3	1	229	1	0	0	0	0	1	0	0	0	1575	1116	39	2	43	2	BVES	6	105549004	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	4647284	105549004	65566063	35	15791											
TIAM2	26230	broad.mit.edu	37	6	155498003	155498003	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:155498003C>A	uc003qqb.3	+	11	3688	c.2415C>A	c.(2413-2415)gaC>gaA	p.D805E	TIAM2_uc003qqe.3_Missense_Mutation_p.D805E|TIAM2_uc010kjj.3_Missense_Mutation_p.D338E|TIAM2_uc003qqf.3_Missense_Mutation_p.D181E|TIAM2_uc011efl.1_Missense_Mutation_p.D141E|TIAM2_uc003qqg.3_Missense_Mutation_p.D117E	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	805					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TTCCCCGAGACAATGCATGGG	0.408													A	155498003	C	A	155498003	3	1	229	1	0	0	0	0	1	0	0	0	15888	477	17	5	2441	5	TIAM2	6	155498003	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	49948999	155498003	15617064	36	15792											
FNDC1	84624	broad.mit.edu	37	6	159672498	159672498	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:159672498G>A	uc010kjv.3	+	16	5199	c.4999G>A	c.(4999-5001)Gtg>Atg	p.V1667M		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1667	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGTGGTGGCCGTGGAAGGTTG	0.537													A	159672498	G	A	159672498	3	1	229	1	0	0	0	0	1	0	0	0	5968	1145	40	1	5065	1	FNDC1	6	159672498	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	4174495	159672498	11442569	37	15793											
MAD1L1	8379	broad.mit.edu	37	7	2255875	2255875	+	Silent	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:2255875C>T	uc003slh.1	-	7	992	c.726G>A	c.(724-726)gtG>gtA	p.V242V	MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.V242V|MAD1L1_uc003slg.1_Silent_p.V242V|MAD1L1_uc010ksh.1_Silent_p.V242V|MAD1L1_uc003sli.1_Silent_p.V150V|MAD1L1_uc010ksi.1_Silent_p.V195V|MAD1L1_uc010ksj.3_Silent_p.V242V	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	242					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCATGTTCTTCACAATCGCTG	0.597													T	2255875	C	T	2255875	2	4	229	1	0	0	0	0	0	0	0	1	9147	813	29	3		3	MAD1L1	7	2255875	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		2255875	156882788	38	15794											
HOXA13	3209	broad.mit.edu	37	7	27238936	27238936	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:27238936A>G	uc003szb.1	-	0	790	c.761T>C	c.(760-762)gTg>gCg	p.V254A	HOTTIP_uc022aau.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	Homo sapiens homeobox A13 (HOXA13), mRNA.	254					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCCCGGCACCACTGGCATATC	0.672			T	NUP98	AML								G	27238936	A	G	27238936	3	3	229	1	0	0	0	0	1	0	0	0	7291	159	6	4	413	4	HOXA13	7	27238936	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	24983061	27238936	131899727	39	15795											
ASZ1	136991	broad.mit.edu	37	7	117067510	117067510	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:117067510G>A	uc003vjb.2	-	0	68	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ASZ1_uc011kno.1_Missense_Mutation_p.A2V|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	2					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			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)			CGCGCTCGCCGCCATGCCAGC	0.692											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	117067510	G	A	117067510	3	1	229	1	0	0	0	0	1	0	0	0	1069	1087	38	1	1474	1	ASZ1	7	117067510	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	89828574	117067510	42071153	40	15796											
TRPV6	55503	broad.mit.edu	37	7	142575507	142575507	+	Silent	SNP	C	C	T	rs145875993		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:142575507C>T	uc003wbx.2	-	2	475	c.246G>A	c.(244-246)gcG>gcA	p.A82A	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	82					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTATGTGTAGCGCTGTTTCCC	0.562													T	142575507	C	T	142575507	2	4	229	1	0	0	0	0	0	0	0	1	16597	755	27	1		1	TRPV6	7	142575507	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	25507997	142575507	16563156	41	15797											
DPYSL2	1808	broad.mit.edu	37	8	26492400	26492400	+	Silent	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr8:26492400C>A	uc003xfb.2	+	7	1226	c.795C>A	c.(793-795)gcC>gcA	p.A265A	DPYSL2_uc003xfa.3_Silent_p.A370A|DPYSL2_uc011lag.2_Silent_p.A265A|DPYSL2_uc011lah.2_Silent_p.A229A	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	265					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGTCATCGCCCAGGCACGGA	0.607													A	26492400	C	A	26492400	2	1	229	1	0	0	0	0	0	0	0	1	4747	610	22	5		5	DPYSL2	8	26492400	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		26492400	119871622	42	15798											
LYN	4067	broad.mit.edu	37	8	56854426	56854426	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr8:56854426G>A	uc003xsk.4	+	1	290	c.8G>A	c.(7-9)tGt>tAt	p.C3Y	LYN_uc003xsl.4_Missense_Mutation_p.C3Y	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	3					erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AATATGGGATGTATAAAATCA	0.343													A	56854426	G	A	56854426	3	1	229	1	0	0	0	0	1	0	0	0	9107	1377	48	3	10	3	LYN	8	56854426	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	30362026	56854426	89509596	43	15799											
DMRT2	10655	broad.mit.edu	37	9	1056405	1056405	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:1056405G>A	uc003zha.3	+	3	1018	c.818G>A	c.(817-819)cGc>cAc	p.R273H	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.R117H|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.R273H	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	273					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTGCCCAACCGCATGGTGCCT	0.473													A	1056405	G	A	1056405	3	1	229	1	0	0	0	0	1	0	0	0	4586	1087	38	1	885	1	DMRT2	9	1056405	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		1056405	140157026	44	15800											
KIAA1045	23349	broad.mit.edu	37	9	34971375	34971375	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:34971375G>T	uc003zvq.3	+	1	258	c.80G>T	c.(79-81)gGg>gTg	p.G27V	KIAA1045_uc003zvr.3_Missense_Mutation_p.G27V	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	27							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCAAGGATGGGCTGCGGGAC	0.607													T	34971375	G	T	34971375	3	4	229	1	0	0	0	0	1	0	0	0	8207	1232	43	5	82	5	KIAA1045	9	34971375	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	33914970	34971375	106242056	45	15801											
OR13C3	138803	broad.mit.edu	37	9	107298263	107298263	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:107298263C>A	uc004bcb.1	-	0	832	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATATGATCACCACAGTCAGG	0.418													A	107298263	C	A	107298263	3	1	229	1	0	0	0	0	1	0	0	0	10935	507	18	5	215	5	OR13C3	9	107298263	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	72326888	107298263	33915168	46	15802											
MYO3A	53904	broad.mit.edu	37	10	26312961	26312961	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr10:26312961C>T	uc001isn.2	+	8	1102	c.742C>T	c.(742-744)Cca>Tca	p.P248S	MYO3A_uc009xko.1_Missense_Mutation_p.P248S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P248S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	248	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			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						GAATCCACCCCCAAAACTAAG	0.388													T	26312961	C	T	26312961	3	4	229	1	0	0	0	0	1	0	0	0	10076	623	22	3	768	3	MYO3A	10	26312961	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		26312961	109221786	47	15803											
GDF10	2662	broad.mit.edu	37	10	48429323	48429323	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr10:48429323C>T	uc001jfb.3	-	1	991	c.563G>A	c.(562-564)cGc>cAc	p.R188H	GDF10_uc009xnp.3_Missense_Mutation_p.R187H|GDF10_uc009xnq.2_Missense_Mutation_p.R188H	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	188					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CATGGCCCCGCGGAGTAGCCC	0.731													T	48429323	C	T	48429323	3	4	229	1	0	0	0	0	1	0	0	0	6311	768	27	1	881	1	GDF10	10	48429323	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	22116362	48429323	87105424	48	15804											
ZNF195	7748	broad.mit.edu	37	11	3381676	3381676	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:3381676C>G	uc001lxt.3	-	5	744	c.562G>C	c.(562-564)Gac>Cac	p.D188H	ZNF195_uc010qxr.2_Missense_Mutation_p.D169H|ZNF195_uc009ydz.3_Missense_Mutation_p.D143H|ZNF195_uc001lxu.3_Missense_Mutation_p.D120H|ZNF195_uc001lxv.3_Missense_Mutation_p.D165H|ZNF195_uc021qck.1_Missense_Mutation_p.D120H|ZNF195_uc001lxs.3_Missense_Mutation_p.D116H	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	188	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTTTCCCAGTCTTTCCTTAAA	0.343													G	3381676	C	G	3381676	3	3	229	1	0	0	0	0	1	0	0	0	17755	913	32	5	1331	5	ZNF195	11	3381676	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		3381676	131624840	49	15805											
CD44	960	broad.mit.edu	37	11	35226085	35226085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:35226085G>T	uc001mvu.3	+	9	1614	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Nonsense_Mutation_p.E351*|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Intron|CD44_uc010ret.2_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	394	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TAGTACAACGGAAGAAACAGC	0.453													T	35226085	G	T	35226085	4	4	229	1	0	0	0	0	0	1	0	0	3017	1175	41	5	1218	5	CD44	11	35226085	Nonsense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	31844409	35226085	99780431	50	15806											
PTPRJ	5795	broad.mit.edu	37	11	48134462	48134462	+	Silent	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:48134462C>T	uc001ngp.4	+	2	634	c.279C>T	c.(277-279)aaC>aaT	p.N93N	PTPRJ_uc001ngo.4_Silent_p.N93N	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	93					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTGGAGCCAACGATAGTTTAA	0.453													T	48134462	C	T	48134462	2	4	229	1	0	0	0	0	0	0	0	1	12804	535	19	1		1	PTPRJ	11	48134462	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	12908377	48134462	86872054	51	15807											
SLC29A2	3177	broad.mit.edu	37	11	66133408	66133409	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:66133408_66133409CA>AC	uc001oht.3	-	10	1288	c.1059_splice	c.e10+1	p.W353_splice	SLC29A2_uc009yrf.3_Splice_Site_p.W233_splice|SLC29A2_uc001ohu.3_Splice_Site_p.W353_splice|SLC29A2_uc001ohv.3_Splice_Site_p.A309_splice|AX747485_uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	353					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	p.W353S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						TGTGCTTACCCACAGGAAGTAA	0.535													AC	66133409	CA	AC	66133408	3	1	229	1	0	0	0	0	1	0	0	0	14535	608	21	5	324	5	SLC29A2	11	66133408	Missense_Mutation	DNP	CA	TCGA-32-2494-01A-01D-1353-08	17998946	66133408	68873108	52	15808											
C11orf82	220042	broad.mit.edu	37	11	82639902	82639905	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:82639902_82639905delCAAA	uc001ozt.3	+	3	441_444	c.197_200delCAAA	c.(196-201)tcaaacfs	p.S66fs	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_Intron|C11orf82_uc009yvd.2_Frame_Shift_Del_p.S66fs	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	66					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GTTGCAGAATCAAACAAATTGTTT	0.343													-	82639905	CAAA	-	82639902	7	5	229	1	0	1	0	1	0	0	0	0	1665	838	29	0	203	0	C11orf82	11	82639902	Frame_Shift_Del	DEL	CAAA	TCGA-32-2494-01A-01D-1353-08	16506494	82639902	52366614	53	15809											
ROBO4	54538	broad.mit.edu	37	11	124764984	124764984	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:124764984C>T	uc001qbg.3	-	6	1282	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	ROBO4_uc010sas.2_Missense_Mutation_p.G236D|ROBO4_uc001qbh.2_Missense_Mutation_p.G271D|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'UTR	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	381	Fibronectin type-III 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R380R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TACCTGGTAGCCACGGATGAT	0.542													T	124764984	C	T	124764984	3	4	229	1	0	0	0	0	1	0	0	0	13516	739	26	3	1929	3	ROBO4	11	124764984	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	42125082	124764984	10241532	54	15810											
VEZT	55591	broad.mit.edu	37	12	95660405	95660405	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:95660405C>T	uc001tdz.2	+	4	812	c.707C>T	c.(706-708)aCa>aTa	p.T236I	VEZT_uc001tds.3_Missense_Mutation_p.T188I|VEZT_uc001tdv.3_Missense_Mutation_p.T205I|VEZT_uc009zsy.1_Missense_Mutation_p.T78I|VEZT_uc001tdr.2_Missense_Mutation_p.T78I|VEZT_uc001tdt.2_Missense_Mutation_p.T188I|VEZT_uc009zsz.1_Missense_Mutation_p.T236I|VEZT_uc001tdw.1_Missense_Mutation_p.T188I|VEZT_uc009zta.1_Missense_Mutation_p.T188I	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	236						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGAGGATTTACACTGTGAGTT	0.313													T	95660405	C	T	95660405	3	4	229	1	0	0	0	0	1	0	0	0	17153	478	17	3	725	3	VEZT	12	95660405	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		95660405	38191490	55	15811											
STAB2	55576	broad.mit.edu	37	12	104147041	104147041	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:104147041G>A	uc001tjw.3	+	60	6810	c.6624G>A	c.(6622-6624)caG>caA	p.Q2208Q	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2208	Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACTGGGCCAGTATAAGCTGA	0.567													A	104147041	G	A	104147041	2	1	229	1	0	0	0	0	0	0	0	1	15237	1020	36	3		3	STAB2	12	104147041	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	8486636	104147041	29704854	56	15812											
ABCB9	23457	broad.mit.edu	37	12	123434439	123434439	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:123434439C>T	uc001udm.4	-	3	1053	c.743G>A	c.(742-744)gGc>gAc	p.G248D	ABCB9_uc021rfo.1_Missense_Mutation_p.G248D|ABCB9_uc021rfp.1_Missense_Mutation_p.G248D|ABCB9_uc001udo.4_Missense_Mutation_p.G248D|ABCB9_uc010taj.2_Missense_Mutation_p.G248D|ABCB9_uc001udq.3_Missense_Mutation_p.G30D|ABCB9_uc021rfq.1_Missense_Mutation_p.G248D|ABCB9_uc001udr.3_Missense_Mutation_p.G248D	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	248	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			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)		GGTAAAAATGCCGCCCCGAAT	0.522													T	123434439	C	T	123434439	3	4	229	1	0	0	0	0	1	0	0	0	48	739	26	3	1593	3	ABCB9	12	123434439	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	19287398	123434439	10417456	57	15813											
NCOR2	9612	broad.mit.edu	37	12	124857156	124857156	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:124857156G>A	uc021rga.1	-	20	2336	c.2219_splice	c.e20-1	p.A740_splice	NCOR2_uc021rgb.1_Splice_Site_p.A723_splice|NCOR2_uc010tbb.2_Splice_Site_p.A740_splice|NCOR2_uc010tbc.2_Splice_Site_p.A722_splice|NCOR2_uc021rgc.1_Splice_Site_p.A722_splice|NCOR2_uc010tba.2_Splice_Site_p.A740_splice|NCOR2_uc001ugj.1_Splice_Site_p.A740_splice	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	740					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTTGACAGTGGCTGTGCAGGG	0.647													A	124857156	G	A	124857156	3	1	229	1	0	0	0	0	1	0	0	0	10236	1217	42	3	5461	3	NCOR2	12	124857156	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	1422717	124857156	8994739	58	15814											
PIWIL1	9271	broad.mit.edu	37	12	130830969	130830969	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:130830969G>A	uc001uik.3	+	4	642	c.371G>A	c.(370-372)cGt>cAt	p.R124H	PIWIL1_uc001uij.2_Missense_Mutation_p.R124H	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	124					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTGACATCCCGTCCCCAGTGG	0.393													A	130830969	G	A	130830969	3	1	229	1	0	0	0	0	1	0	0	0	11957	1145	40	1	385	1	PIWIL1	12	130830969	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	5973813	130830969	3020926	59	15815											
ENOX1	55068	broad.mit.edu	37	13	43788215	43788215	+	Missense_Mutation	SNP	G	G	A	rs146880051		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr13:43788215G>A	uc001uza.4	-	16	2143	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	ENOX1_uc001uzc.4_Missense_Mutation_p.R615C|ENOX1_uc001uzb.4_Missense_Mutation_p.R615C	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	615					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTGAACATGCGTGGCAGCCTC	0.433													A	43788215	G	A	43788215	3	1	229	1	0	0	0	0	1	0	0	0	5126	1145	40	1	92	1	ENOX1	13	43788215	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		43788215	71381663	60	15816											
HEATR5A	25938	broad.mit.edu	37	14	31790820	31790820	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:31790820C>T	uc001wrf.4	-	24	4039	c.3854G>A	c.(3853-3855)aGt>aAt	p.S1285N	HEATR5A_uc010ami.3_Missense_Mutation_p.S890N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1279							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGCTGGTCACTGTGATCTGT	0.408													T	31790820	C	T	31790820	3	4	229	1	0	0	0	0	1	0	0	0	7031	565	20	3	2334	3	HEATR5A	14	31790820	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		31790820	75558720	61	15817											
FOS	2353	broad.mit.edu	37	14	75745716	75745716	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:75745716G>C	uc001xrn.3	+	0	236	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	FOS_uc010tva.2_Missense_Mutation_p.E11Q|FOS_uc010asi.3_5'Flank	NM_005252	NP_005243	P01100	FOS_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.	11					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CGCAGACTACGAGGCGTCATC	0.662													C	75745716	G	C	75745716	3	2	229	1	0	0	0	0	1	0	0	0	5985	1059	37	5	33	5	FOS	14	75745716	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	43954896	75745716	31603824	62	15818											
KCNK13	56659	broad.mit.edu	37	14	90650893	90650893	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:90650893G>A	uc001xye.1	+	1	1215	c.773G>A	c.(772-774)cGc>cAc	p.R258H		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	258						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGCCTCTATCGCTTTGCCAAC	0.493													A	90650893	G	A	90650893	3	1	229	1	0	0	0	0	1	0	0	0	8061	1087	38	1	779	1	KCNK13	14	90650893	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	14905177	90650893	16698647	63	15819											
RYR3	6263	broad.mit.edu	37	15	34014993	34014993	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:34014993C>T	uc001zhi.3	+	43	6767	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	RYR3_uc010bar.3_Missense_Mutation_p.R2233W	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2233	4 X approximate repeats.				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)		CCCGGCCCTGCGGGGTGAGGG	0.587													T	34014993	C	T	34014993	3	4	229	1	0	0	0	0	1	0	0	0	13770	759	27	1	6871	1	RYR3	15	34014993	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		34014993	68516399	64	15820											
CILP	8483	broad.mit.edu	37	15	65495753	65495753	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:65495753G>A	uc002aon.2	-	6	1156	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	325	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACAGAGACACGCTCTGCCCAG	0.498													A	65495753	G	A	65495753	2	1	229	1	0	0	0	0	0	0	0	1	3429	1078	38	1		1	CILP	15	65495753	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	31480760	65495753	37035639	65	15821											
SCAMP2	10066	broad.mit.edu	37	15	75137888	75137888	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:75137888T>G	uc002azb.1	-	7	855	c.781A>C	c.(781-783)Ata>Cta	p.I261L	ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.I111L	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	261					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ATGACTGATATGGCCAGGGAA	0.557													G	75137888	T	G	75137888	3	3	229	1	0	0	0	0	1	0	0	0	13871	1464	51	5	216	5	SCAMP2	15	75137888	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	9642135	75137888	27393504	66	15822											
ADCY9	115	broad.mit.edu	37	16	4033331	4033331	+	Silent	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:4033331C>T	uc002cvx.3	-	6	2960	c.2421G>A	c.(2419-2421)ctG>ctA	p.L807L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	807					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCGTACTTCAGGAAGCAGG	0.637											OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4033331	C	T	4033331	2	4	229	1	0	0	0	0	0	0	0	1	301	813	29	3		3	ADCY9	16	4033331	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		4033331	86321422	67	15823											
RBL2	5934	broad.mit.edu	37	16	53500990	53500990	+	Silent	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:53500990G>T	uc002ehi.4	+	13	2002	c.1884G>T	c.(1882-1884)ctG>ctT	p.L628L	RBL2_uc010vgv.1_Silent_p.L554L|RBL2_uc002ehj.3_Silent_p.L338L|RBL2_uc010vgw.2_Silent_p.L412L	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	628	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCAGAACCTGGAAAGGGCAG	0.423													T	53500990	G	T	53500990	2	4	229	1	0	0	0	0	0	0	0	1	13110	1335	47	5		5	RBL2	16	53500990	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	49467659	53500990	36853763	68	15824											
NOB1	28987	broad.mit.edu	37	16	69782153	69782153	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:69782153C>A	uc002exs.3	-	6	822	c.806G>T	c.(805-807)cGc>cTc	p.R269L		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	269						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCATGGCAGCGCAAGATGTA	0.522													A	69782153	C	A	69782153	3	1	229	1	0	0	0	0	1	0	0	0	10511	768	27	5	444	5	NOB1	16	69782153	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	16281163	69782153	20572600	69	15825											
CLDN7	1366	broad.mit.edu	37	17	7163801	7163801	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:7163801G>A	uc002gfm.4	-	3	1430	c.528C>T	c.(526-528)atC>atT	p.I176I	CLDN7_uc010cmc.3_3'UTR|CLDN7_uc002gfn.4_Silent_p.I176I	NM_001307	NP_001298	O95471	CLD7_HUMAN	Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.	176					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						CACCTCCCAGGATGACTAGGG	0.572													A	7163801	G	A	7163801	2	1	229	1	0	0	0	0	0	0	0	1	3490	1164	41	3		3	CLDN7	17	7163801	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		7163801	74031409	70	15826											
CDRT15	146822	broad.mit.edu	37	17	14139674	14139674	+	Silent	SNP	G	G	A	rs141627800		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:14139674G>A	uc010vvu.2	-	1	336	c.336C>T	c.(334-336)gcC>gcT	p.A112A		NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN	Homo sapiens CMT1A duplicated region transcript 15 (CDRT15), mRNA.	112										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCTCTGGAGGGGCCTCTTCCC	0.607													A	14139674	G	A	14139674	2	1	229	1	0	0	0	0	0	0	0	1	3175	1219	43	3		3	CDRT15	17	14139674	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	6975873	14139674	67055536	71	15827											
NF1	4763	broad.mit.edu	37	17	29508438	29508438	+	Splice_Site	SNP	A	A	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:29508438A>G	uc002hgg.3	+	6	970	c.587_splice	c.e6-2	p.E196_splice	NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Splice_Site_p.E56_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	196					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGTTTTTTCCAGAAACAGCAT	0.299			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29508438	A	G	29508438	5	3	229	1	0	0	0	0	0	0	1	0	10356	202	7	4	607	4	NF1	17	29508438	Splice_Site	SNP	A	TCGA-32-2494-01A-01D-1353-08	15368764	29508438	51686772	72	15828											
TADA2A	6871	broad.mit.edu	37	17	35834667	35834667	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:35834667G>A	uc002hnv.3	+	14	1448	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	TADA2A_uc002hnt.3_Missense_Mutation_p.R360Q|TADA2A_uc002hnw.3_Missense_Mutation_p.R259Q	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	360	SWIRM.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATAGGTAGACGGAGTGCACCA	0.453													A	35834667	G	A	35834667	3	1	229	1	0	0	0	0	1	0	0	0	15507	1116	39	2	1228	2	TADA2A	17	35834667	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	6326229	35834667	45360543	73	15829											
KRT12	3859	broad.mit.edu	37	17	39021192	39021192	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:39021192G>A	uc002hvk.2	-	2	697	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	225	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity	p.R225C(4)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ACGCCCTGGCGCAGGGCCAGT	0.552													A	39021192	G	A	39021192	3	1	229	1	0	0	0	0	1	0	0	0	8449	1087	38	1	835	1	KRT12	17	39021192	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3186525	39021192	42174018	74	15830											
TANC2	26115	broad.mit.edu	37	17	61466072	61466072	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:61466072C>G	uc002jal.4	+	13	2569	c.2546C>G	c.(2545-2547)tCc>tGc	p.S849C	TANC2_uc010wpe.2_Missense_Mutation_p.S759C|TANC2_uc002jan.1_5'UTR|TANC2_uc002jao.4_5'Flank|TANC2_uc002jam.1_Missense_Mutation_p.S216C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	849							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAAGGTCTTTCCATGGCACTG	0.323													G	61466072	C	G	61466072	3	3	229	1	0	0	0	0	1	0	0	0	15542	855	30	5	2600	5	TANC2	17	61466072	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	22444880	61466072	19729138	75	15831											
SERPINB2	5273	broad.mit.edu	37	18	61585321	61585321	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr18:61585321G>A	uc010xev.2	+	3	447	c.357G>A	c.(355-357)acG>acA	p.T119T	SERPINB2_uc010xew.2_Silent_p.T119T	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	134					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.T119T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GAGAGAAAACGTATGCATTTC	0.348													A	61585321	G	A	61585321	2	1	229	1	0	0	0	0	0	0	0	1	14101	1132	40	1		1	SERPINB2	18	61585321	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		61585321	16491927	76	15832											
GZMM	3004	broad.mit.edu	37	19	547333	547333	+	Missense_Mutation	SNP	C	C	T	rs148691419	byFrequency	TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:547333C>T	uc002low.1	+	1	154	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_005317	NP_005308	P51124	GRAM_HUMAN	Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.	37	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCCCCACTCGCGCCCGTACAT	0.662													T	547333	C	T	547333	3	4	229	1	0	0	0	0	1	0	0	0	6919	768	27	1	115	1	GZMM	19	547333	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		547333	58581650	77	15833											
FSD1	79187	broad.mit.edu	37	19	4323057	4323057	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:4323057G>A	uc002lzy.2	+	10	1267	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	FSD1_uc002maa.2_Missense_Mutation_p.G185S	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	372	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCGGCGTGGGCGTGGCCTA	0.687													A	4323057	G	A	4323057	3	1	229	1	0	0	0	0	1	0	0	0	6070	1232	43	3	1156	3	FSD1	19	4323057	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3775724	4323057	54805926	78	15834											
KPTN	11133	broad.mit.edu	37	19	47979804	47979804	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:47979804G>A	uc002pgy.3	-	10	1271	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	KPTN_uc010xys.2_Non-coding_Transcript	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.	389					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GGATGTGCACGCCCTTCAGGG	0.667													A	47979804	G	A	47979804	2	1	229	1	0	0	0	0	0	0	0	1	8437	1074	38	1		1	KPTN	19	47979804	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	43656747	47979804	11149179	79	15835											
TNNT1	7138	broad.mit.edu	37	19	55645562	55645562	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:55645562C>G	uc002qjb.4	-	11	711	c.622G>C	c.(622-624)Gcc>Ccc	p.A208P	TNNT1_uc002qjc.4_Intron|TNNT1_uc002qje.4_Intron|TNNT1_uc002qjd.4_Intron	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	208					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	p.A208P(2)|p.S207C(1)|p.S207S(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGCAGCCAGGCAGACCGGGCC	0.622													G	55645562	C	G	55645562	3	3	229	1	0	0	0	0	1	0	0	0	16327	710	25	5	226	5	TNNT1	19	55645562	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	7665758	55645562	3483421	80	15836											
KRTAP19-5	337972	broad.mit.edu	37	21	31874370	31874370	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr21:31874370G>A	uc011ada.2	-	0	39	c.39C>T	c.(37-39)taC>taT	p.Y13Y		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	Homo sapiens keratin associated protein 19-5 (KRTAP19-5), mRNA.	13						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CTCCGTAGCCGTAGCCCAGGC	0.572													A	31874370	G	A	31874370	2	1	229	1	0	0	0	0	0	0	0	1	8532	1140	40	1		1	KRTAP19-5	21	31874370	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		31874370	16255525	81	15837											
KRTAP6-1	337966	broad.mit.edu	37	21	31986219	31986219	+	Missense_Mutation	SNP	C	C	T	rs146113466		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr21:31986219C>T	uc002yop.3	-	0	5	c.5G>A	c.(4-6)tGt>tAt	p.C2Y	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	2						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						GTAGCTGCCACACATGGTGTT	0.547													T	31986219	C	T	31986219	3	4	229	1	0	0	0	0	1	0	0	0	8569	478	17	3	214	3	KRTAP6-1	21	31986219	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	111849	31986219	16143676	82	15838											
SBF1	6305	broad.mit.edu	37	22	50886843	50886843	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr22:50886843C>T	uc003blh.3	-	37	5377	c.5182G>A	c.(5182-5184)Gca>Aca	p.A1728T	SBF1_uc003ble.3_Missense_Mutation_p.A192T|SBF1_uc011arx.2_Missense_Mutation_p.A1366T	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1702					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-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)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGGTGGGGTGCGGTGGACACA	0.657													T	50886843	C	T	50886843	3	4	229	1	0	0	0	0	1	0	0	0	13858	768	27	1	515	1	SBF1	22	50886843	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		50886843	417723	83	15839											
CCNB3	85417	broad.mit.edu	37	X	50053319	50053319	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:50053319G>T	uc004dox.4	+	5	2448	c.2150G>T	c.(2149-2151)aGc>aTc	p.S717I	CCNB3_uc004doy.3_Missense_Mutation_p.S717I|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	717					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.S717I(3)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAGGAGAAAAGCACCATGGAA	0.453													T	50053319	G	T	50053319	3	4	229	1	0	0	0	0	1	0	0	0	2914	971	34	5	2164	5	CCNB3	23	50053319	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		50053319	105217241	84	15840											
ZC3H12B	340554	broad.mit.edu	37	X	64721739	64721739	+	Silent	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:64721739G>A	uc010nko.3	+	4	1228	c.1161G>A	c.(1159-1161)tcG>tcA	p.S387S		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	376							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCAGCGTTCGGTGGCTGATG	0.527													A	64721739	G	A	64721739	2	1	229	1	0	0	0	0	0	0	0	1	17559	1103	39	2		2	ZC3H12B	23	64721739	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	14668420	64721739	90548821	85	15841											
AWAT2	158835	broad.mit.edu	37	X	69263788	69263788	+	Silent	SNP	A	A	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:69263788A>G	uc004dxt.1	-	2	261	c.255T>C	c.(253-255)taT>taC	p.Y85Y		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	85						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TGAGAGGGAAATAATCGCTGT	0.602													G	69263788	A	G	69263788	2	3	229	1	0	0	0	0	0	0	0	1	1235	108	4	4		4	AWAT2	23	69263788	Silent	SNP	A	TCGA-32-2494-01A-01D-1353-08	4542049	69263788	86006772	86	15842											
NONO	4841	broad.mit.edu	37	X	70514099	70514099	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:70514099T>C	uc004dzo.3	+	5	1081	c.371T>C	c.(370-372)aTt>aCt	p.I124T	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.I124T|NONO_uc004dzp.3_Missense_Mutation_p.I124T|NONO_uc011mpv.2_Missense_Mutation_p.I35T|NONO_uc004dzq.3_5'UTR	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	124	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTAGCGGAGATTGCCAAAGTG	0.488			T	TFE3	papillary renal cancer								C	70514099	T	C	70514099	3	2	229	1	0	0	0	0	1	0	0	0	10534	1493	52	4	381	4	NONO	23	70514099	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	1250311	70514099	84756461	87	15843											
TAF1	6872	broad.mit.edu	37	X	70586172	70586172	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:70586172C>T	uc004dzu.4	+	0	59	c.8C>T	c.(7-9)cCc>cTc	p.P3L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.P3L	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	3	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTATGGGACCCGGCTGCGAT	0.562													T	70586172	C	T	70586172	3	4	229	1	0	0	0	0	1	0	0	0	15510	623	22	3	10	3	TAF1	23	70586172	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	72073	70586172	84684388	88	15844											
ACTRT1	139741	broad.mit.edu	37	X	127185764	127185764	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:127185764G>A	uc004eum.3	-	0	619	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	141						cytoplasm|cytoskeleton		p.A141V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGCTGCCACCGCATGATTAGA	0.522													A	127185764	G	A	127185764	3	1	229	1	0	0	0	0	1	0	0	0	218	1087	38	1	712	1	ACTRT1	23	127185764	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	56599592	127185764	28084796	89	15845											
SLC25A14	9016	broad.mit.edu	37	X	129492634	129492634	+	Silent	SNP	A	A	G			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:129492634A>G	uc004evr.1	+	5	682	c.510A>G	c.(508-510)ggA>ggG	p.G170G	SLC25A14_uc010nrg.3_Silent_p.G170G|SLC25A14_uc011mut.2_Missense_Mutation_p.K110E|SLC25A14_uc011muu.2_Silent_p.G173G|SLC25A14_uc004evp.1_Silent_p.G173G|SLC25A14_uc004evq.1_Silent_p.G170G	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	173					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGGCTCAAGGAAGCTTGTTCC	0.373													G	129492634	A	G	129492634	2	3	229	1	0	0	0	0	0	0	0	1	14476	233	9	4		4	SLC25A14	23	129492634	Silent	SNP	A	TCGA-32-2494-01A-01D-1353-08	2306870	129492634	25777926	90	15846											
GPR112	139378	broad.mit.edu	37	X	135433699	135433699	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:135433699C>T	uc004ezu.1	+	7	7113	c.6822_splice	c.e7+1	p.S2274_splice	GPR112_uc010nsb.1_Splice_Site_p.S2069_splice|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2274					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)					ACGGAAAATTCGGTAAAATAA	0.269													T	135433699	C	T	135433699	3	4	229	1	0	0	0	0	1	0	0	0	6629	898	31	2	6835	2	GPR112	23	135433699	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	5941065	135433699	19836861	91	15847											
ATP11C	286410	broad.mit.edu	37	X	138879436	138879436	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:138879436C>A	uc004faz.3	-	10	1015	c.916G>T	c.(916-918)Gct>Tct	p.A306S	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.A306S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	306					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CATACTGCAGCTTTGGTCAGT	0.343													A	138879436	C	A	138879436	3	1	229	1	0	0	0	0	1	0	0	0	1121	797	28	5	2625	5	ATP11C	23	138879436	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	3445737	138879436	16391124	92	15848											
TKTL1	8277	broad.mit.edu	37	X	153543586	153543586	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:153543586G>A	uc004fkg.3	+	6	1114	c.928G>A	c.(928-930)Gtt>Att	p.V310I	TKTL1_uc011mzl.2_Missense_Mutation_p.V304I|TKTL1_uc011mzm.2_Missense_Mutation_p.V106I|TKTL1_uc004fkh.3_Missense_Mutation_p.V254I	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	310					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACAGAGTCGTTGTGCTGGA	0.483													A	153543586	G	A	153543586	3	1	229	1	0	0	0	0	1	0	0	0	15932	1145	40	1	954	1	TKTL1	23	153543586	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	14664150	153543586	1726974	93	15849											
GNB1	2782	broad.mit.edu	37	1	1720568	1720568	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:1720568C>A	uc001aif.3	-	9	1203	c.840G>T	c.(838-840)aaG>aaT	p.K280N	GNB1_uc009vky.3_Missense_Mutation_p.K180N	NM_002074	NP_002065	P62873	GBB1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.	280					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCGCCCGCTCTTGGAGAAGG	0.587											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1720568	C	A	1720568	3	1	230	1	0	0	0	0	1	0	0	0	6515	912	32	5	190	5	GNB1	1	1720568	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		1720568	247530053	1	15850											
CHD5	26038	broad.mit.edu	37	1	6206730	6206730	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:6206730G>C	uc001amb.2	-	9	1696	c.1585C>G	c.(1585-1587)Cta>Gta	p.L529V	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	529	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCACCTGTAGCTCCTTCACC	0.647													C	6206730	G	C	6206730	3	2	230	1	0	0	0	0	1	0	0	0	3328	962	34	5	4407	5	CHD5	1	6206730	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	4486162	6206730	243043891	2	15851											
CLCNKA	1188	broad.mit.edu	37	1	16377396	16377396	+	Silent	SNP	G	G	A	rs140705060		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:16377396G>A	uc001axx.4	+	11	1216	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Silent_p.S191S|CLCNKA_uc001axy.4_Silent_p.S191S	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	360					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATCTGGACTCGCTGTTCGACA	0.672													A	16377396	G	A	16377396	2	1	230	1	0	0	0	0	0	0	0	1	3469	1074	38	1		1	CLCNKA	1	16377396	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	10170666	16377396	232873225	3	15852											
PTAFR	5724	broad.mit.edu	37	1	28477001	28477001	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:28477001C>T	uc009vte.3	-	2	867	c.532G>A	c.(532-534)Gag>Aag	p.E178K	PTAFR_uc021ojz.1_Missense_Mutation_p.E178K|PTAFR_uc001bpl.3_Missense_Mutation_p.E178K|PTAFR_uc001bpm.4_Missense_Mutation_p.E178K|PTAFR_uc021oka.1_Missense_Mutation_p.E178K	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	178					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	p.E178K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCTTCTCGTAATGCTCA	0.542													T	28477001	C	T	28477001	3	4	230	1	0	0	0	0	1	0	0	0	12723	893	31	2	500	2	PTAFR	1	28477001	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	12099605	28477001	220773620	4	15853											
SLC44A5	204962	broad.mit.edu	37	1	75708695	75708695	+	Missense_Mutation	SNP	A	A	G	rs148670291		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:75708695A>G	uc010oqz.1	-	7	529	c.463_splice	c.e7-1	p.I155_splice	SLC44A5_uc001dgt.2_Splice_Site_p.I116_splice|SLC44A5_uc001dgs.2_Splice_Site_p.I74_splice|SLC44A5_uc001dgr.2_Splice_Site_p.I74_splice|SLC44A5_uc001dgu.3_Splice_Site_p.I116_splice|SLC44A5_uc010ora.2_Splice_Site_p.I110_splice|SLC44A5_uc010orb.2_Splice_Site	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	116						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGAGACACAGATCTGTGAACG	0.383													G	75708695	A	G	75708695	3	3	230	1	0	0	0	0	1	0	0	0	14639	347	12	4	1991	4	SLC44A5	1	75708695	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	47231694	75708695	173541926	5	15854											
LRRC8C	84230	broad.mit.edu	37	1	90179098	90179098	+	Silent	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:90179098T>C	uc001dnl.4	+	2	1211	c.969T>C	c.(967-969)taT>taC	p.Y323Y		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	323						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CCTTTTGCTATCTGTGCTTTG	0.408													C	90179098	T	C	90179098	2	2	230	1	0	0	0	0	0	0	0	1	9023	1442	50	4		4	LRRC8C	1	90179098	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	14470403	90179098	159071523	6	15855											
ABCA4	24	broad.mit.edu	37	1	94508933	94508933	+	Missense_Mutation	SNP	C	C	T	rs61750062		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:94508933C>T	uc001dqh.3	-	20	3253	c.3149G>A	c.(3148-3150)gGc>gAc	p.G1050D		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1050	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTGGTGGAGGCCTGTGTCCTC	0.582													T	94508933	C	T	94508933	3	4	230	1	0	0	0	0	1	0	0	0	34	739	26	3	3792	3	ABCA4	1	94508933	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	4329835	94508933	154741688	7	15856											
POU2F1	5451	broad.mit.edu	37	1	167353107	167353107	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:167353107G>A	uc001gec.3	+	8	902	c.663G>A	c.(661-663)gcG>gcA	p.A221A	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Silent_p.A244A|POU2F1_uc010plh.2_Silent_p.A181A|POU2F1_uc001ged.3_Silent_p.A219A|POU2F1_uc001gef.3_Silent_p.A233A|POU2F1_uc001geg.3_Silent_p.A119A	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	221					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCCTGCAAGCGCAAAATCTTC	0.438													A	167353107	G	A	167353107	2	1	230	1	0	0	0	0	0	0	0	1	12271	1074	38	1		1	POU2F1	1	167353107	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	72844174	167353107	81897514	8	15857											
IVNS1ABP	10625	broad.mit.edu	37	1	185267320	185267320	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:185267320C>T	uc001grl.3	-	14	2399	c.1776G>A	c.(1774-1776)atG>atA	p.M592I	IVNS1ABP_uc001gri.3_Missense_Mutation_p.M252I|IVNS1ABP_uc001grj.3_Missense_Mutation_p.M252I|IVNS1ABP_uc009wyj.3_Missense_Mutation_p.M374I|IVNS1ABP_uc009wyk.3_Non-coding_Transcript	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	592					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTGGTGAAGTCATATTTCCCA	0.423													T	185267320	C	T	185267320	3	4	230	1	0	0	0	0	1	0	0	0	7930	826	29	3	156	3	IVNS1ABP	1	185267320	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	17914213	185267320	63983301	9	15858											
REN	5972	broad.mit.edu	37	1	204130489	204130489	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:204130489C>T	uc001haq.2	-	2	348	c.304G>A	c.(304-306)Gtc>Atc	p.V102I		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	102					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	p.V102I(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGTCAAAGACGACTTTGAAG	0.582													T	204130489	C	T	204130489	3	4	230	1	0	0	0	0	1	0	0	0	13224	536	19	1	948	1	REN	1	204130489	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	18863169	204130489	45120132	10	15859											
HSD11B1	3290	broad.mit.edu	37	1	209880164	209880164	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:209880164delG	uc001hhj.3	+	4	463	c.331_splice	c.e4+1	p.G111_splice	HSD11B1_uc021pin.1_Splice_Site_p.G111_splice|HSD11B1_uc001hhk.3_Splice_Site_p.G111_splice	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	111					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GAAAGCTCATGGGTGAGGCTG	0.517													-	209880164	G	-	209880164	7	5	230	1	0	1	0	1	0	0	0	0	7375	1362	47	0	340	0	HSD11B1	1	209880164	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	5749675	209880164	39370457	11	15860											
OR2T4	127074	broad.mit.edu	37	1	248525116	248525116	+	Silent	SNP	C	C	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:248525116C>A	uc001ieh.1	+	0	234	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			CTGTCCTGATCCTTCTGATAC	0.473													A	248525116	C	A	248525116	2	1	230	1	0	0	0	0	0	0	0	1	11027	845	30	5		5	OR2T4	1	248525116	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	38644952	248525116	725505	12	15861											
OR14I1	401994	broad.mit.edu	37	1	248844752	248844752	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:248844752G>A	uc001ieu.1	-	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATATATGATGGGATTGAGGAA	0.403													A	248844752	G	A	248844752	3	1	230	1	0	0	0	0	1	0	0	0	10947	1232	43	3	85	3	OR14I1	1	248844752	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	319636	248844752	405869	13	15862											
NRXN1	9378	broad.mit.edu	37	2	50280492	50280492	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:50280492T>G	uc021vhh.1	-	18	4876	c.3955A>C	c.(3955-3957)Aca>Cca	p.T1319P	NRXN1_uc010fbp.3_Missense_Mutation_p.T284P|NRXN1_uc002rxb.4_Missense_Mutation_p.T1021P|NRXN1_uc021vhg.1_Missense_Mutation_p.T1389P|NRXN1_uc021vhi.1_Missense_Mutation_p.T1385P|NRXN1_uc021vhj.1_Missense_Mutation_p.T1315P	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1319					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATAATTGATGTGGACATCTCT	0.502													G	50280492	T	G	50280492	3	3	230	1	0	0	0	0	1	0	0	0	10665	1696	59	5	490	5	NRXN1	2	50280492	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08		50280492	192918881	14	15863											
LCT	3938	broad.mit.edu	37	2	136594490	136594490	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:136594490T>A	uc002tuu.1	-	0	261	c.250A>T	c.(250-252)Atc>Ttc	p.I84F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	84					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TAATGGGTGATCTGACTGGCA	0.507													A	136594490	T	A	136594490	3	1	230	1	0	0	0	0	1	0	0	0	8693	1435	50	5	5601	5	LCT	2	136594490	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	86313998	136594490	106604883	15	15864											
COBLL1	22837	broad.mit.edu	37	2	165551199	165551199	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:165551199A>T	uc002ucp.3	-	11	3039	c.2817T>A	c.(2815-2817)aaT>aaA	p.N939K	COBLL1_uc002ucq.3_Missense_Mutation_p.N901K|COBLL1_uc010zcw.2_Missense_Mutation_p.N1006K|COBLL1_uc010zcx.2_Missense_Mutation_p.N947K|COBLL1_uc002ucn.3_Missense_Mutation_p.N367K|COBLL1_uc002uco.3_Missense_Mutation_p.N670K	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	977										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCCTCTTTATTTGTCAGTT	0.468													T	165551199	A	T	165551199	3	4	230	1	0	0	0	0	1	0	0	0	3654	446	16	5	695	5	COBLL1	2	165551199	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	28956709	165551199	77648174	16	15865											
ZC3H15	55854	broad.mit.edu	37	2	187368763	187368763	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:187368763G>A	uc002upo.3	+	5	764	c.539G>A	c.(538-540)tGc>tAc	p.C180Y		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	180						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CTATAGGTGTGCAAGCATTTC	0.438													A	187368763	G	A	187368763	3	1	230	1	0	0	0	0	1	0	0	0	17564	1319	46	3	561	3	ZC3H15	2	187368763	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	21817564	187368763	55830610	17	15866											
CCDC150	284992	broad.mit.edu	37	2	197521487	197521487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:197521487C>T	uc002utp.1	+	2	442	c.307C>T	c.(307-309)Cga>Tga	p.R103*	CCDC150_uc002uto.1_Nonsense_Mutation_p.R103*|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	103								p.R103Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTGGTAAATCGAATGTGCCG	0.398													T	197521487	C	T	197521487	4	4	230	1	0	0	0	0	0	1	0	0	2785	876	31	2	317	2	CCDC150	2	197521487	Nonsense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	10152724	197521487	45677886	18	15867											
NEK10	152110	broad.mit.edu	37	3	27233608	27233608	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:27233608T>G	uc010hfk.3	-	4	582	c.353A>C	c.(352-354)gAa>gCa	p.E118A	NEK10_uc003cds.1_Missense_Mutation_p.E203A|NEK10_uc010hfj.3_Missense_Mutation_p.E118A			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	806							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGTTCCCGTTCTAGCTTCTT	0.423													G	27233608	T	G	27233608	3	3	230	1	0	0	0	0	1	0	0	0	10322	1798	62	5		5	NEK10	3	27233608	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08		27233608	170788822	19	15868											
SLC22A14	9389	broad.mit.edu	37	3	38355344	38355344	+	Silent	SNP	C	C	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:38355344C>G	uc003cib.2	+	6	1363	c.1290C>G	c.(1288-1290)ctC>ctG	p.L430L	SLC22A14_uc010hhc.1_Silent_p.L430L|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	430						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCATCTTTCTCCTCCAGCAGA	0.577													G	38355344	C	G	38355344	2	3	230	1	0	0	0	0	0	0	0	1	14445	842	30	5		5	SLC22A14	3	38355344	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	11121736	38355344	159667086	20	15869											
CDCP1	64866	broad.mit.edu	37	3	45153846	45153846	+	Silent	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:45153846A>G	uc003com.3	-	2	519	c.384T>C	c.(382-384)gaT>gaC	p.D128D	CDCP1_uc003con.3_Silent_p.D128D	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	128						extracellular region|integral to membrane|plasma membrane				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)		GAGCTTTGACATCCCAGATGA	0.527													G	45153846	A	G	45153846	2	3	230	1	0	0	0	0	0	0	0	1	3093	214	8	4		4	CDCP1	3	45153846	Silent	SNP	A	TCGA-32-2495-01A-01D-1353-08	6798502	45153846	152868584	21	15870											
MYH15	22989	broad.mit.edu	37	3	108179152	108179152	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:108179152G>C	uc003dxa.1	-	17	2044	c.1987C>G	c.(1987-1989)Cat>Gat	p.H663D		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	663	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTACTTTATGCAGAGATGCA	0.299													C	108179152	G	C	108179152	3	2	230	1	0	0	0	0	1	0	0	0	10034	1319	46	5	3953	5	MYH15	3	108179152	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	63025306	108179152	89843278	22	15871											
GOLGB1	2804	broad.mit.edu	37	3	121413693	121413693	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:121413693delG	uc010hrc.3	-	12	5803	c.5677delC	c.(5677-5679)cagfs	p.Q1893fs	GOLGB1_uc003eei.4_Frame_Shift_Del_p.Q1888fs|GOLGB1_uc003eej.4_Frame_Shift_Del_p.Q1854fs|GOLGB1_uc021xcy.1_Frame_Shift_Del_p.Q1813fs|GOLGB1_uc011bjm.1_Frame_Shift_Del_p.Q1774fs|GOLGB1_uc010hrd.1_Frame_Shift_Del_p.Q1852fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1888					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACTTCCTCCTGAAGCATTTTT	0.368													-	121413693	G	-	121413693	7	5	230	1	0	1	0	1	0	0	0	0	6565	1299	45	0	4157	0	GOLGB1	3	121413693	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	13234541	121413693	76608737	23	15872											
DIRC2	84925	broad.mit.edu	37	3	122514299	122514299	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:122514299G>A	uc003efw.4	+	0	399	c.260G>A	c.(259-261)aGc>aAc	p.S87N	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_5'UTR|HSPBAP1_uc003efu.2_5'Flank|HSPBAP1_uc003efv.2_5'Flank	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	87					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGCTTCTCCAGCTGGGACATC	0.662													A	122514299	G	A	122514299	3	1	230	1	0	0	0	0	1	0	0	0	4534	971	34	3	262	3	DIRC2	3	122514299	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	1100606	122514299	75508131	24	15873											
SELT	51714	broad.mit.edu	37	3	150321196	150321196	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:150321196G>A	uc021xfp.1	+	0	131	c.47G>A	c.(46-48)cGg>cAg	p.R16Q	SERP1_uc003exz.3_5'Flank|BC039424_uc003eye.2_5'Flank	NM_016275		P62341	SELT_HUMAN	Homo sapiens selenoprotein T (SELT), mRNA.	16				RSE -> WSD (in Ref. 4; AAH09611).	cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCGATGGTCCGGAGCGAGGCC	0.597													A	150321196	G	A	150321196	3	1	230	1	0	0	0	0	1	0	0	0	14022	1116	39	2	49	2	SELT	3	150321196	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	27806897	150321196	47701234	25	15874											
PIK3CA	5290	broad.mit.edu	37	3	178916614	178916614	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:178916614A>G	uc003fjk.3	+	1	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1V(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCAGAACAATGCCTCCACG	0.378		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916614	A	G	178916614	3	3	230	1	0	0	0	0	1	0	0	0	11913	101	4	4	3	4	PIK3CA	3	178916614	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	28595418	178916614	19105816	26	15875											
MFSD7	84179	broad.mit.edu	37	4	680439	680439	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:680439T>C	uc003gay.3	-	1	233	c.176A>G	c.(175-177)gAg>gGg	p.E59G	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.E59G|MFSD7_uc003gaz.3_Intron	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	59					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GACCAAGTCCTCAGCAATGAC	0.622													C	680439	T	C	680439	3	2	230	1	0	0	0	0	1	0	0	0	9537	1551	54	4	1539	4	MFSD7	4	680439	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08		680439	190473837	27	15876											
DRD5	1816	broad.mit.edu	37	4	9784960	9784960	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:9784960G>A	uc003gmb.4	+	0	1703	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	436					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.R436S(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTTTCGATCGCATGTTCCAG	0.552													A	9784960	G	A	9784960	3	1	230	1	0	0	0	0	1	0	0	0	4760	1087	38	1	1309	1	DRD5	4	9784960	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	9104521	9784960	181369316	28	15877											
UGT2A1	10941	broad.mit.edu	37	4	70513056	70513056	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:70513056T>C	uc011caq.2	-	1	423	c.307A>G	c.(307-309)Acc>Gcc	p.T103A	UGT2A1_uc010ihu.3_Missense_Mutation_p.T103A|UGT2A1_uc003hem.4_Missense_Mutation_p.T103A|UGT2A1_uc010iht.3_Missense_Mutation_p.T103A	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	103					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTCCAAATGGTTGAAGGAGAT	0.408													C	70513056	T	C	70513056	3	2	230	1	0	0	0	0	1	0	0	0	16950	1725	60	4	1300	4	UGT2A1	4	70513056	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	60728096	70513056	120641220	29	15878											
EGF	1950	broad.mit.edu	37	4	110883096	110883096	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:110883096T>A	uc003hzy.4	+	7	1719	c.1267T>A	c.(1267-1269)Tgt>Agt	p.C423S	EGF_uc011cfu.2_Missense_Mutation_p.C381S|EGF_uc011cfv.2_Missense_Mutation_p.C423S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	423	EGF-like 3.				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			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)	CTTATGTTTCTGTCCTGAAGG	0.393													A	110883096	T	A	110883096	3	1	230	1	0	0	0	0	1	0	0	0	4962	1580	55	5	1297	5	EGF	4	110883096	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	40370040	110883096	80271180	30	15879											
PDZD2	23037	broad.mit.edu	37	5	32074373	32074381	+	In_Frame_Del	DEL	CCTATGCAG	CCTATGCAG	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:32074373_32074381delCCTATGCAG	uc003jhl.3	+	17	3549_3557	c.3161_3169delCCTATGCAG	c.(3160-3171)tcctatgcagcc>tcc	p.YAA1055del	PDZD2_uc003jhm.3_In_Frame_Del_p.YAA1055del|PDZD2_uc011cnx.1_In_Frame_Del_p.YAA881del	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1055					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GATGCTGCGTCCTATGCAGCCAACCTCAC	0.569													-	32074381	CCTATGCAG	-	32074373	7	5	230	1	0	1	0	1	0	0	0	0	11701	855	30	0	3227	0	PDZD2	5	32074373	In_Frame_Del	DEL	CCTATGCAG	TCGA-32-2495-01A-01D-1353-08		32074373	148840887	31	15880											
ADAMTS12	81792	broad.mit.edu	37	5	33751608	33751608	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:33751608C>T	uc003jia.1	-	2	698	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	ADAMTS12_uc010iuq.1_Missense_Mutation_p.V179M|ADAMTS12_uc003jib.1_Missense_Mutation_p.V179M	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	179					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TGCTTCTTCACGGGTTCAATG	0.423										HNSCC(64;0.19)			T	33751608	C	T	33751608	3	4	230	1	0	0	0	0	1	0	0	0	257	536	19	1	4337	1	ADAMTS12	5	33751608	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	1677235	33751608	147163652	32	15881											
ACSL6	23305	broad.mit.edu	37	5	131296260	131296260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:131296260G>A	uc003kvx.2	-	18	2021	c.1912C>T	c.(1912-1914)Cag>Tag	p.Q638*	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Nonsense_Mutation_p.Q603*|ACSL6_uc003kvy.2_Nonsense_Mutation_p.Q638*|ACSL6_uc003kvz.2_Nonsense_Mutation_p.Q538*|ACSL6_uc021ydh.1_Nonsense_Mutation_p.Q538*|ACSL6_uc010jdo.2_Nonsense_Mutation_p.Q613*|ACSL6_uc003kwa.2_Nonsense_Mutation_p.Q624*|ACSL6_uc003kvw.2_Nonsense_Mutation_p.Q259*|ACSL6_uc010jdn.2_Nonsense_Mutation_p.Q628*	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	613					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCTCTTCTGGGCCCAGGAG	0.458													A	131296260	G	A	131296260	4	1	230	1	0	0	0	0	0	1	0	0	181	1357	47	3	268	3	ACSL6	5	131296260	Nonsense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	97544652	131296260	49619000	33	15882											
CSF1R	1436	broad.mit.edu	37	5	149456956	149456956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:149456956delG	uc003lrl.3	-	4	967	c.772delC	c.(772-774)caafs	p.Q258fs	CSF1R_uc011dcd.2_Frame_Shift_Del_p.Q110fs|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dce.1_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dcf.2_Frame_Shift_Del_p.Q258fs	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	258	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGACTTTTTGGTAACGGTTA	0.478													-	149456956	G	-	149456956	7	5	230	1	0	1	0	1	0	0	0	0	3932	1357	47	0	2214	0	CSF1R	5	149456956	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	18160696	149456956	31458304	34	15883											
FABP6	2172	broad.mit.edu	37	5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:159656578G>A	uc003lya.1	+	0	142	c.14G>A	c.(13-15)gGc>gAc	p.G5D	FABP6_uc003lxx.1_Missense_Mutation_p.G54D|FABP6_uc003lxz.1_Missense_Mutation_p.G54D	NM_001445	NP_001436	P51161	FABP6_HUMAN	Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA.	5					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	p.G5D(2)|p.G54D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTCACCGGCAAGTTCGAG	0.537													A	159656578	G	A	159656578	3	1	230	1	0	0	0	0	1	0	0	0	5361	1203	42	3	171	3	FABP6	5	159656578	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	10199622	159656578	21258682	35	15884											
PGBD1	84547	broad.mit.edu	37	6	28269185	28269186	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:28269185_28269186GT>TA	uc003nky.3	+	6	1974_1975	c.1554_1555GT>TA	c.(1552-1557)aagttt>aaTAtt	p.518_519KF>NI	PGBD1_uc003nkz.3_Missense_Mutation_p.518_519KF>NI	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	518					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.D517N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAAAGATAAGTTTACAAAGTT	0.356													TA	28269186	GT	TA	28269185	3	4	230	1	0	0	0	0	1	0	0	0	11780	1020	36	5	1576	5	PGBD1	6	28269185	Missense_Mutation	DNP	GT	TCGA-32-2495-01A-01D-1353-08		28269185	142845882	36	15885											
TRIM10	10107	broad.mit.edu	37	6	30126240	30126240	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:30126240C>T	uc003npo.3	-	2	768	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	TRIM10_uc003npn.2_Missense_Mutation_p.R231Q	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	231						cytoplasm	zinc ion binding			ovary(1)	1						AGCACTAAACCGGCAGATCTC	0.542													T	30126240	C	T	30126240	3	4	230	1	0	0	0	0	1	0	0	0	16483	652	23	2	861	2	TRIM10	6	30126240	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	1857055	30126240	140988827	37	15886											
TAP2	6891	broad.mit.edu	37	6	32797852	32797852	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:32797852C>T	uc011dqf.1	-	9	1772	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G	TAP2_uc003ocb.1_Silent_p.G550G|TAP2_uc003occ.3_Silent_p.G550G|TAP2_uc003ocd.3_Silent_p.G550G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	550	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CAGGCTCCTGCCCAACTGAAA	0.587													T	32797852	C	T	32797852	2	4	230	1	0	0	0	0	0	0	0	1	15548	726	26	3		3	TAP2	6	32797852	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	2671612	32797852	138317215	38	15887											
CRISP3	10321	broad.mit.edu	37	6	49700907	49700907	+	Splice_Site	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:49700907C>T	uc021zai.1	-	6	678	c.590_splice	c.e6+1	p.A197_splice	CRISP3_uc003ozs.3_Splice_Site_p.A187_splice	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	174					innate immune response	proteinaceous extracellular matrix|specific granule		p.?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATATACTTACGCAGGACAAT	0.299													T	49700907	C	T	49700907	5	4	230	1	0	0	0	0	0	0	1	0	3881	550	19	1	227	1	CRISP3	6	49700907	Splice_Site	SNP	C	TCGA-32-2495-01A-01D-1353-08	16903055	49700907	121414160	39	15888											
NT5E	4907	broad.mit.edu	37	6	86203692	86203692	+	Silent	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:86203692T>C	uc003pko.4	+	8	2251	c.1695T>C	c.(1693-1695)ctT>ctC	p.L565L	NT5E_uc010kbr.3_Silent_p.L515L	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	565					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TTCTTTCACTTTGGGCAGTGA	0.358													C	86203692	T	C	86203692	2	2	230	1	0	0	0	0	0	0	0	1	10693	1828	64	4		4	NT5E	6	86203692	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	36502785	86203692	84911375	40	15889											
MAP3K5	4217	broad.mit.edu	37	6	137041637	137041637	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:137041637T>C	uc003qhc.3	-	1	900	c.539A>G	c.(538-540)aAc>aGc	p.N180S	MAP3K5_uc011edk.1_Missense_Mutation_p.N25S|MAP3K5_uc010kgw.1_Missense_Mutation_p.N180S	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	180					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGGATGATGTTGTTGGCCAT	0.473													C	137041637	T	C	137041637	3	2	230	1	0	0	0	0	1	0	0	0	9253	1725	60	4	3701	4	MAP3K5	6	137041637	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	50837945	137041637	34073430	41	15890											
GLI3	2737	broad.mit.edu	37	7	42005081	42005081	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:42005081A>G	uc011kbh.2	-	14	3681	c.3590T>C	c.(3589-3591)aTg>aCg	p.M1197T	GLI3_uc011kbg.2_Missense_Mutation_p.M1138T	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1197					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			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						GTGGACGACCATGCCGTTGCA	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G	42005081	A	G	42005081	3	3	230	1	0	0	0	0	1	0	0	0	6439	217	8	4	1156	4	GLI3	7	42005081	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08		42005081	117133582	42	15891											
LMTK2	22853	broad.mit.edu	37	7	97822800	97822800	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:97822800C>T	uc003upd.2	+	10	3316	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1008					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GTCCACGAAGCGCTACTGGAC	0.587													T	97822800	C	T	97822800	3	4	230	1	0	0	0	0	1	0	0	0	8859	768	27	1	3065	1	LMTK2	7	97822800	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	55817719	97822800	61315863	43	15892											
LAMB1	3912	broad.mit.edu	37	7	107566693	107566693	+	Missense_Mutation	SNP	C	C	A	rs143093758		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:107566693C>A	uc003vev.2	-	29	5232	c.5071G>T	c.(5071-5073)Ggg>Tgg	p.G1691W	LAMB1_uc003vew.2_Missense_Mutation_p.G1667W	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1667	Domain I.				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			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)	TCTGCCTCCCCGGAGTTTTGG	0.428													A	107566693	C	A	107566693	3	1	230	1	0	0	0	0	1	0	0	0	8610	652	23	5	373	5	LAMB1	7	107566693	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	9743893	107566693	51571970	44	15893											
LAMB4	22798	broad.mit.edu	37	7	107703420	107703420	+	Silent	SNP	G	G	A	rs144037364	byFrequency	TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:107703420G>A	uc010ljo.1	-	22	3165	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	LAMB4_uc003vey.2_Silent_p.S1027S|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1027	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GACTCACGCCGGAAGCATGGC	0.517													A	107703420	G	A	107703420	2	1	230	1	0	0	0	0	0	0	0	1	8613	1103	39	2		2	LAMB4	7	107703420	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	136727	107703420	51435243	45	15894											
MET	4233	broad.mit.edu	37	7	116340174	116340174	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:116340174T>C	uc003vij.3	+	1	1223	c.1036T>C	c.(1036-1038)Ttc>Ctc	p.F346L	MET_uc022akk.1_Missense_Mutation_p.F346L|MET_uc010lkh.3_Missense_Mutation_p.F346L|MET_uc011knc.1_Missense_Mutation_p.F346L|MET_uc011knd.2_Missense_Mutation_p.F346L|MET_uc011knf.2_Missense_Mutation_p.F346L|MET_uc011kne.2_Missense_Mutation_p.F346L|MET_uc011kng.1_Missense_Mutation_p.F346L|MET_uc011knh.1_Missense_Mutation_p.F346L|MET_uc011kni.2_Missense_Mutation_p.F346L|MET_uc003vii.1_Missense_Mutation_p.F365L|MET_uc010lkg.3_Missense_Mutation_p.F346L|MET_uc011kmz.1_Missense_Mutation_p.F346L|MET_uc011kna.1_Missense_Mutation_p.F346L|MET_uc011knb.1_Missense_Mutation_p.F346L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	346	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTCGGGGTGTTCGCACAAAG	0.468			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				C	116340174	T	C	116340174	3	2	230	1	0	0	0	0	1	0	0	0	9485	1725	60	4	1038	4	MET	7	116340174	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	8636754	116340174	42798489	46	15895											
MET	4233	broad.mit.edu	37	7	116340270	116340270	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:116340270G>A	uc003vij.3	+	1	1319	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	MET_uc022akk.1_Missense_Mutation_p.V378I|MET_uc010lkh.3_Missense_Mutation_p.V378I|MET_uc011knc.1_Missense_Mutation_p.V378I|MET_uc011knd.2_Missense_Mutation_p.V378I|MET_uc011knf.2_Missense_Mutation_p.V378I|MET_uc011kne.2_Missense_Mutation_p.V378I|MET_uc011kng.1_Missense_Mutation_p.V378I|MET_uc011knh.1_Missense_Mutation_p.V378I|MET_uc011kni.2_Missense_Mutation_p.V378I|MET_uc003vii.1_Missense_Mutation_p.V397I|MET_uc010lkg.3_Missense_Mutation_p.V378I|MET_uc011kmz.1_Missense_Mutation_p.V378I|MET_uc011kna.1_Missense_Mutation_p.V378I|MET_uc011knb.1_Missense_Mutation_p.V378I	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	378	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAACAAGATCGTCAACAAAAA	0.433			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				A	116340270	G	A	116340270	3	1	230	1	0	0	0	0	1	0	0	0	9485	1145	40	1	1134	1	MET	7	116340270	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	96	116340270	42798393	47	15896											
KCNH2	3757	broad.mit.edu	37	7	150645539	150645539	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:150645539C>T	uc003wic.3	-	10	3086	c.2685G>A	c.(2683-2685)acG>acA	p.T895T	KCNH2_uc003wib.3_Silent_p.T555T|KCNH2_uc011kux.2_Silent_p.T799T	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	895					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	cacccTTGTCCGTGCGCCTGC	0.672													T	150645539	C	T	150645539	2	4	230	1	0	0	0	0	0	0	0	1	8032	639	23	2		2	KCNH2	7	150645539	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	34305269	150645539	8493124	48	15897											
NEFM	4741	broad.mit.edu	37	8	24775127	24775127	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:24775127A>G	uc003xed.4	+	2	1792	c.1759A>G	c.(1759-1761)Aaa>Gaa	p.K587E	NEFM_uc011lac.1_Missense_Mutation_p.K587E|NEFM_uc010lue.3_Missense_Mutation_p.K211E	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	587	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		agaggaaaagaaagtggagga	0.493													G	24775127	A	G	24775127	3	3	230	1	0	0	0	0	1	0	0	0	10316	247	9	4	1769	4	NEFM	8	24775127	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08		24775127	121588895	49	15898											
UBR5	51366	broad.mit.edu	37	8	103297923	103297923	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:103297923C>G	uc003ykr.2	-	38	5757	c.5302G>C	c.(5302-5304)Gct>Cct	p.A1768P	UBR5_uc003yks.2_Missense_Mutation_p.A1768P	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1768	Poly-Ala.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GCTTCCAAAGCAGCTGCTGCA	0.468													G	103297923	C	G	103297923	3	3	230	1	0	0	0	0	1	0	0	0	16902	710	25	5	3181	5	UBR5	8	103297923	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	78522796	103297923	43066099	50	15899											
CSMD3	114788	broad.mit.edu	37	8	113420584	113420584	+	Silent	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:113420584T>C	uc003ynu.3	-	33	5727	c.5568A>G	c.(5566-5568)ggA>ggG	p.G1856G	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Silent_p.G1816G|CSMD3_uc011lhx.2_Silent_p.G1752G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1856	CUB 10.					integral to membrane|plasma membrane				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						CTGTTATTGGTCCAACTGAAG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113420584	T	C	113420584	2	2	230	1	0	0	0	0	0	0	0	1	3946	1654	58	4		4	CSMD3	8	113420584	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	10122661	113420584	32943438	51	15900											
BICD2	23299	broad.mit.edu	37	9	95480999	95480999	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr9:95480999G>T	uc004asp.1	-	4	1985	c.1928C>A	c.(1927-1929)gCa>gAa	p.A643E	BICD2_uc004aso.1_Missense_Mutation_p.A643E	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	643					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCACGGCTGCCTGCAGGTG	0.622													T	95480999	G	T	95480999	3	4	230	1	0	0	0	0	1	0	0	0	1429	1319	46	5	661	5	BICD2	9	95480999	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		95480999	45732432	52	15901											
ANKRD30A	91074	broad.mit.edu	37	10	37486209	37486209	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:37486209A>G	uc021ppc.1	+	28	2546	c.2447_splice	c.e28-1	p.E816_splice	ANKRD30A_uc001iza.1_Splice_Site_p.E816_splice	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	872						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			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						TGCTTTTTAGAGCCTCCCGAG	0.338													G	37486209	A	G	37486209	3	3	230	1	0	0	0	0	1	0	0	0	658	318	11	4	2557	4	ANKRD30A	10	37486209	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08		37486209	98048538	53	15902											
ARID5B	84159	broad.mit.edu	37	10	63816874	63816874	+	Splice_Site	SNP	A	A	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:63816874A>C	uc001jlt.2	+	6	1303	c.847_splice	c.e6-2	p.V283_splice	ARID5B_uc001jlu.2_Splice_Site_p.V40_splice	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	283					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCCCTTTTCCAGGTGAAATGT	0.448													C	63816874	A	C	63816874	5	2	230	1	0	0	0	0	0	0	1	0	922	202	7	5	867	5	ARID5B	10	63816874	Splice_Site	SNP	A	TCGA-32-2495-01A-01D-1353-08	26330665	63816874	71717873	54	15903											
PTEN	5728	broad.mit.edu	37	10	89717664	89717664	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:89717664G>A	uc001kfb.3	+	6	1721	c.689G>A	c.(688-690)gGa>gAa	p.G230E	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	230	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G230fs*26(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCAATTCAGGACCCACACGA	0.428		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89717664	G	A	89717664	3	1	230	1	0	0	0	0	1	0	0	0	12738	1174	41	3	715	3	PTEN	10	89717664	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	25900790	89717664	45817083	55	15904											
PDCD4	27250	broad.mit.edu	37	10	112655708	112655708	+	Silent	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:112655708T>C	uc001kzh.3	+	10	1498	c.1212T>C	c.(1210-1212)ggT>ggC	p.G404G	PDCD4_uc001kzg.3_Silent_p.G393G|PDCD4_uc010qre.2_Silent_p.G390G|PDCD4_uc021pye.1_5'Flank	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	404	MI 2.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGTTGTAGGGTTATGAGAGAA	0.353													C	112655708	T	C	112655708	2	2	230	1	0	0	0	0	0	0	0	1	11621	1712	60	4		4	PDCD4	10	112655708	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	22938044	112655708	22879039	56	15905											
USP47	55031	broad.mit.edu	37	11	11969542	11969542	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:11969542C>T	uc001mjs.3	+	20	3905	c.3142C>T	c.(3142-3144)Cat>Tat	p.H1048Y	USP47_uc001mjr.3_Missense_Mutation_p.H980Y|USP47_uc009ygi.3_5'Flank	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	1068					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTTCAAACAACATTTAGAGCC	0.398													T	11969542	C	T	11969542	3	4	230	1	0	0	0	0	1	0	0	0	17075	478	17	3	3016	3	USP47	11	11969542	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		11969542	123036974	57	15906											
RTN3	10313	broad.mit.edu	37	11	63487657	63487657	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:63487657C>T	uc001nxq.3	+	2	1870	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Silent_p.D449D|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.D542D|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	561					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGGTCAGTGACTCTGAGCTGC	0.408													T	63487657	C	T	63487657	2	4	230	1	0	0	0	0	0	0	0	1	13727	564	20	3		3	RTN3	11	63487657	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	51518115	63487657	71518859	58	15907											
SLC22A20	440044	broad.mit.edu	37	11	64990066	64990067	+	Missense_Mutation	DNP	AG	AG	GT			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:64990066_64990067AG>GT	uc021qlg.1	+	4	796	c.763_splice	c.e4+1	p.G255_splice	SLC22A20_uc021qlh.1_Splice_Site_p.E94_splice	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	0					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTGACCAAGGAGGTAAGCGAGC	0.545													GT	64990067	AG	GT	64990066	3	3	230	1	0	0	0	0	1	0	0	0	14451	318	11	4	776	4	SLC22A20	11	64990066	Missense_Mutation	DNP	AG	TCGA-32-2495-01A-01D-1353-08	1502409	64990066	70016450	59	15908											
CDC42EP2	10435	broad.mit.edu	37	11	65088799	65088799	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:65088799G>T	uc021qli.1	+	0	430	c.430G>T	c.(430-432)Gag>Tag	p.E144*	CDC42EP2_uc001odl.3_Nonsense_Mutation_p.E144*	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	144					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						TTCCCCACAGGAGGGAGGGAG	0.667													T	65088799	G	T	65088799	4	4	230	1	0	0	0	0	0	1	0	0	3076	1175	41	5	432	5	CDC42EP2	11	65088799	Nonsense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	98733	65088799	69917717	60	15909											
C1S	716	broad.mit.edu	37	12	7177423	7177423	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:7177423C>T	uc001qsj.3	+	14	2254	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	C1S_uc001qsk.3_Missense_Mutation_p.P512L|C1S_uc001qsl.3_Missense_Mutation_p.P512L|C1S_uc009zfr.3_Missense_Mutation_p.P345L|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	512	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.P512L(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTATTCATCCGGGATGGAAG	0.512													T	7177423	C	T	7177423	3	4	230	1	0	0	0	0	1	0	0	0	1974	652	23	2	1577	2	C1S	12	7177423	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		7177423	126674472	61	15910											
C12orf63	374467	broad.mit.edu	37	12	97087506	97087506	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:97087506C>T	uc021rcc.1	+	11	1624	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	516								p.L515L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAGGTTCTGCCTCTCCTTGC	0.289													T	97087506	C	T	97087506	3	4	230	1	0	0	0	0	1	0	0	0	1706	739	26	3	1588	3	C12orf63	12	97087506	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	89910083	97087506	36764389	62	15911											
SELPLG	6404	broad.mit.edu	37	12	109017719	109017719	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:109017719T>C	uc010sxe.2	-	1	590	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	SELPLG_uc001tni.3_Missense_Mutation_p.Q122R|SELPLG_uc021rdm.1_Missense_Mutation_p.Q122R|SELPLG_uc001tnh.3_Missense_Mutation_p.Q122R	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	122	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999).		blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TTGAGTGGTCTGTATCTCCAT	0.602													C	109017719	T	C	109017719	3	2	230	1	0	0	0	0	1	0	0	0	14020	1580	55	4	851	4	SELPLG	12	109017719	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	11930213	109017719	24834176	63	15912											
TPCN1	53373	broad.mit.edu	37	12	113729743	113729743	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:113729743G>A	uc001tux.3	+	25	2483	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	TPCN1_uc001tuw.3_Missense_Mutation_p.R698H|TPCN1_uc010syu.2_5'Flank	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	698						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AACTACAGCCGCAAGAACCAG	0.582													A	113729743	G	A	113729743	3	1	230	1	0	0	0	0	1	0	0	0	16392	1087	38	1	2407	1	TPCN1	12	113729743	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	4712024	113729743	20122152	64	15913											
KSR2	283455	broad.mit.edu	37	12	118198974	118198974	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:118198974C>T	uc001two.2	-	3	796	c.741G>A	c.(739-741)acG>acA	p.T247T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	276	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGGGCGGCGTGCCCGGCG	0.706													T	118198974	C	T	118198974	2	4	230	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	118198974	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	4469231	118198974	15652921	65	15914											
CLIP1	6249	broad.mit.edu	37	12	122803873	122803873	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:122803873G>A	uc001ucg.2	-	17	3427	c.3272C>T	c.(3271-3273)gCc>gTc	p.A1091V	CLIP1_uc001uch.1_Missense_Mutation_p.A1080V|CLIP1_uc001uci.1_Missense_Mutation_p.A1045V|CLIP1_uc001ucj.1_Missense_Mutation_p.A666V	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1091					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TATCTGCATGGCATCTTCCGC	0.478													A	122803873	G	A	122803873	3	1	230	1	0	0	0	0	1	0	0	0	3532	1203	42	3	1080	3	CLIP1	12	122803873	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	4604899	122803873	11048022	66	15915											
EP400	57634	broad.mit.edu	37	12	132527862	132527862	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:132527862T>A	uc001ujn.3	+	32	6373	c.6221T>A	c.(6220-6222)aTt>aAt	p.I2074N	EP400_uc021rgq.1_Missense_Mutation_p.I2073N|EP400_uc001ujm.3_Missense_Mutation_p.I1993N	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2110					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCAAGAGTATTGAGTATCTG	0.463													A	132527862	T	A	132527862	3	1	230	1	0	0	0	0	1	0	0	0	5149	1493	52	5	6344	5	EP400	12	132527862	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	9723989	132527862	1324033	67	15916											
SLC15A1	6564	broad.mit.edu	37	13	99356577	99356577	+	Missense_Mutation	SNP	G	G	A	rs141206459		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr13:99356577G>A	uc001vno.3	-	16	1459	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	461					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CACTAGAAGCGTGTGGCGTTG	0.453													A	99356577	G	A	99356577	3	1	230	1	0	0	0	0	1	0	0	0	14398	1145	40	1	772	1	SLC15A1	13	99356577	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		99356577	15813301	68	15917											
OR11H12	440153	broad.mit.edu	37	14	19378103	19378103	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:19378103G>T	uc010tkp.2	+	0	510	c.510G>T	c.(508-510)tgG>tgT	p.W170C		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATTTCTGTGGTTCCTGATCC	0.483													T	19378103	G	T	19378103	3	4	230	1	0	0	0	0	1	0	0	0	10927	1270	44	5	512	5	OR11H12	14	19378103	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		19378103	87971437	69	15918											
OR4Q3	441669	broad.mit.edu	37	14	20216022	20216022	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:20216022G>T	uc010tkt.2	+	0	436	c.436G>T	c.(436-438)Gtt>Ttt	p.V146F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTTGGTTGGTTCTTGCCTG	0.488													T	20216022	G	T	20216022	3	4	230	1	0	0	0	0	1	0	0	0	11081	1261	44	5	438	5	OR4Q3	14	20216022	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	837919	20216022	87133518	70	15919											
KHNYN	23351	broad.mit.edu	37	14	24901649	24901649	+	Silent	SNP	G	G	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:24901649G>C	uc010tpc.2	+	2	1321	c.1305G>C	c.(1303-1305)cgG>cgC	p.R435R	KHNYN_uc001wph.4_Silent_p.R394R|KHNYN_uc010alw.3_Silent_p.R394R|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	394										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCATGGCACGGGGTCGGGGGC	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	24901649	G	C	24901649	2	2	230	1	0	0	0	0	0	0	0	1	8150	1219	43	5		5	KHNYN	14	24901649	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	4685627	24901649	82447891	71	15920											
MARK3	4140	broad.mit.edu	37	14	103933475	103933475	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:103933475A>C	uc001ymz.4	+	10	1723	c.1057A>C	c.(1057-1059)Aaa>Caa	p.K353Q	MARK3_uc001ymx.4_Missense_Mutation_p.K353Q|MARK3_uc001ymw.4_Missense_Mutation_p.K353Q|MARK3_uc001yna.4_Missense_Mutation_p.K353Q|MARK3_uc001ymy.4_Missense_Mutation_p.K274Q|MARK3_uc010awp.3_Missense_Mutation_p.K376Q|MARK3_uc010tyb.2_Missense_Mutation_p.K164Q	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	353	UBA.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TAGTAAGATGAAATACGATGA	0.328													C	103933475	A	C	103933475	3	2	230	1	0	0	0	0	1	0	0	0	9314	247	9	5	1099	5	MARK3	14	103933475	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	79031826	103933475	3416065	72	15921											
C15orf2	23742	broad.mit.edu	37	15	24924482	24924482	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr15:24924482G>A	uc001ywo.3	+	0	3942	c.3468G>A	c.(3466-3468)ccG>ccA	p.P1156P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1156					cell differentiation|multicellular organismal development|spermatogenesis			p.P1156P(2)|p.L1155F(1)|p.P1156Q(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCAACTTCCGTAAGAGCACC	0.423													A	24924482	G	A	24924482	2	1	230	1	0	0	0	0	0	0	0	1	1784	1132	40	1		1	C15orf2	15	24924482	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08		24924482	77606910	73	15922											
GRIN2A	2903	broad.mit.edu	37	16	10032404	10032404	+	Missense_Mutation	SNP	G	G	A	rs142566406		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:10032404G>A	uc010uym.2	-	3	729	c.419C>T	c.(418-420)cCg>cTg	p.P140L	GRIN2A_uc002czo.4_Missense_Mutation_p.P140L|GRIN2A_uc010uyn.2_5'UTR|GRIN2A_uc002czr.4_Missense_Mutation_p.P140L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	140					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTAGACGTCGGATCCTGCCA	0.478													A	10032404	G	A	10032404	3	1	230	1	0	0	0	0	1	0	0	0	6779	1116	39	2	4019	2	GRIN2A	16	10032404	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		10032404	80322349	74	15923											
MYH11	4629	broad.mit.edu	37	16	15811149	15811149	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:15811149C>G	uc002ddx.3	-	38	5480	c.5373G>C	c.(5371-5373)gaG>gaC	p.E1791D	MYH11_uc002ddv.3_Missense_Mutation_p.E1791D|MYH11_uc002ddw.3_Missense_Mutation_p.E1784D|MYH11_uc002ddy.3_Missense_Mutation_p.E1784D|MYH11_uc010bvg.3_Missense_Mutation_p.E1616D|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.E490D	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1784					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGGGCACTCTCATTCTTCT	0.647			T	CBFB	AML								G	15811149	C	G	15811149	3	3	230	1	0	0	0	0	1	0	0	0	10031	912	32	5	617	5	MYH11	16	15811149	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	5778745	15811149	74543604	75	15924											
DNAH3	55567	broad.mit.edu	37	16	20952865	20952865	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:20952865C>T	uc010vbe.2	-	59	11512	c.11512_splice	c.e59-1	p.E3838_splice	DNAH3_uc010vbd.2_Splice_Site_p.E1273_splice	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3838					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAACCACTTCCTTAAAATGC	0.453													T	20952865	C	T	20952865	3	4	230	1	0	0	0	0	1	0	0	0	4603	869	30	3	853	3	DNAH3	16	20952865	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	5141716	20952865	69401888	76	15925											
OTOA	146183	broad.mit.edu	37	16	21698929	21698929	+	Missense_Mutation	SNP	C	C	T	rs148114778		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:21698929C>T	uc002djh.3	+	6	596	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R120W	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	199					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATCACAGAGCGGCTCCCTCG	0.532													T	21698929	C	T	21698929	3	4	230	1	0	0	0	0	1	0	0	0	11302	759	27	1	655	1	OTOA	16	21698929	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	746064	21698929	68655824	77	15926											
SETD1A	9739	broad.mit.edu	37	16	30975479	30975479	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:30975479G>A	uc002ead.1	+	5	1390	c.704G>A	c.(703-705)gGc>gAc	p.G235D	SETD1A_uc002eae.1_Missense_Mutation_p.G235D	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.V234M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTGCGGTGGGCACTCCTGGC	0.627													A	30975479	G	A	30975479	3	1	230	1	0	0	0	0	1	0	0	0	14130	1203	42	3	722	3	SETD1A	16	30975479	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	9276550	30975479	59379274	78	15927											
ARHGEF15	22899	broad.mit.edu	37	17	8219094	8219094	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:8219094C>T	uc002glc.3	+	7	1598	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	ARHGEF15_uc002gld.3_Silent_p.S481S|ARHGEF15_uc010vuw.2_Silent_p.S370S	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	481	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CGCTCCTGTCCCGTGTGCGCT	0.582													T	8219094	C	T	8219094	2	4	230	1	0	0	0	0	0	0	0	1	898	610	22	3		3	ARHGEF15	17	8219094	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08		8219094	72976116	79	15928											
RNF112	7732	broad.mit.edu	37	17	19316608	19316608	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:19316608G>A	uc010vyw.2	+	4	835	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	RNF112_uc010vyu.2_3'UTR|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.G85S	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	202							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						TGGTGAGGGCGGCCGGCCAAG	0.652													A	19316608	G	A	19316608	3	1	230	1	0	0	0	0	1	0	0	0	13426	1116	39	2	332	2	RNF112	17	19316608	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	11097514	19316608	61878602	80	15929											
KRT37	8688	broad.mit.edu	37	17	39580498	39580498	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:39580498C>T	uc002hwp.1	-	0	325	c.278G>A	c.(277-279)gGg>gAg	p.G93E		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	93	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCCGTAGGCCCCACAGATTCC	0.602													T	39580498	C	T	39580498	3	4	230	1	0	0	0	0	1	0	0	0	8474	623	22	3	1099	3	KRT37	17	39580498	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	20263890	39580498	41614712	81	15930											
TRIM65	201292	broad.mit.edu	37	17	73887344	73887344	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:73887344C>T	uc002jpx.3	-	5	1106	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	357	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGGACTGACGACAGTGCTT	0.627													T	73887344	C	T	73887344	3	4	230	1	0	0	0	0	1	0	0	0	16536	536	19	1	487	1	TRIM65	17	73887344	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	34306846	73887344	7307866	82	15931											
SMCHD1	23347	broad.mit.edu	37	18	2770043	2770044	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:2770043_2770044delCA	uc002klm.4	+	38	5092_5093	c.4903_4904delCA	c.(4903-4905)cagfs	p.Q1635fs	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1635					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCAATTATCTCAGTCTATTGTT	0.277													-	2770044	CA	-	2770043	7	5	230	1	0	1	0	1	0	0	0	0	14788	827	29	0	5057	0	SMCHD1	18	2770043	Frame_Shift_Del	DEL	CA	TCGA-32-2495-01A-01D-1353-08		2770043	75307205	83	15932											
ZNF519	162655	broad.mit.edu	37	18	14105942	14105942	+	Silent	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:14105942A>G	uc002kst.2	-	2	810	c.597T>C	c.(595-597)ccT>ccC	p.P199P	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GGATATTTTCAGGGAAAATAA	0.284													G	14105942	A	G	14105942	2	3	230	1	0	0	0	0	0	0	0	1	17961	175	7	4		4	ZNF519	18	14105942	Silent	SNP	A	TCGA-32-2495-01A-01D-1353-08	11335899	14105942	63971306	84	15933											
ELP2	55250	broad.mit.edu	37	18	33740957	33740957	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:33740957C>G	uc010xcg.2	+	17	2006	c.1946C>G	c.(1945-1947)tCa>tGa	p.S649*	ELP2_uc002kzk.2_Nonsense_Mutation_p.S584*|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Nonsense_Mutation_p.S558*|ELP2_uc010xch.2_Nonsense_Mutation_p.S579*|ELP2_uc002kzn.2_Nonsense_Mutation_p.S514*|ELP2_uc002kzo.2_Nonsense_Mutation_p.S514*	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	584					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTGCTTGCCTCAGCTTGTAAG	0.363													G	33740957	C	G	33740957	4	3	230	1	0	0	0	0	0	1	0	0	5080	838	29	5	1817	5	ELP2	18	33740957	Nonsense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	19635015	33740957	44336291	85	15934											
RTTN	25914	broad.mit.edu	37	18	67684705	67684705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:67684705delG	uc002lkp.2	-	45	6427	c.6359delC	c.(6358-6360)cctfs	p.P2120fs	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Frame_Shift_Del_p.P1208fs|RTTN_uc002lkn.2_Frame_Shift_Del_p.P110fs|RTTN_uc010dqp.2_Frame_Shift_Del_p.P372fs	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	2120							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATAAGAAGAGGCAATAAAGG	0.388													-	67684705	G	-	67684705	7	5	230	1	0	1	0	1	0	0	0	0	13737	1000	35	0	337	0	RTTN	18	67684705	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	33943748	67684705	10392543	86	15935											
RTTN	25914	broad.mit.edu	37	18	67871471	67871471	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:67871471T>C	uc002lkp.2	-	2	316	c.248A>G	c.(247-249)gAc>gGc	p.D83G	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.D83G	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	83							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGCACCAACGTCAACCAAATG	0.388													C	67871471	T	C	67871471	3	2	230	1	0	0	0	0	1	0	0	0	13737	1667	58	4	6620	4	RTTN	18	67871471	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	186766	67871471	10205777	87	15936											
NFATC1	4772	broad.mit.edu	37	18	77246687	77246687	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:77246687C>T	uc010xfg.2	+	8	2985	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	NFATC1_uc002lnd.3_Intron|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Silent_p.P372P|NFATC1_uc002lnf.3_Silent_p.P831P|NFATC1_uc002lng.3_Intron|NFATC1_uc010xfk.2_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	844	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGCTCTGCCCCAGCAGCCCCT	0.751													T	77246687	C	T	77246687	2	4	230	1	0	0	0	0	0	0	0	1	10361	581	21	3		3	NFATC1	18	77246687	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	9375216	77246687	830561	88	15937											
PQLC1	80148	broad.mit.edu	37	18	77679330	77679330	+	Silent	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:77679330C>T	uc002lnl.2	-	4	634	c.462G>A	c.(460-462)acG>acA	p.T154T	PQLC1_uc010dre.2_Silent_p.T71T|PQLC1_uc002lnk.2_Silent_p.T136T|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.	154						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CCGCCACGCCCGTGAAGGCCA	0.627													T	77679330	C	T	77679330	2	4	230	1	0	0	0	0	0	0	0	1	12418	639	23	2		2	PQLC1	18	77679330	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	432643	77679330	397918	89	15938											
FBN3	84467	broad.mit.edu	37	19	8176044	8176044	+	Missense_Mutation	SNP	C	C	T	rs117092804	by1000genomes	TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:8176044C>T	uc002mjf.3	-	31	4125	c.4108G>A	c.(4108-4110)Gtg>Atg	p.V1370M		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1370	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.N1369N(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGAGGTCCACGTTCTCGGCA	0.657													T	8176044	C	T	8176044	3	4	230	1	0	0	0	0	1	0	0	0	5704	536	19	1	4449	1	FBN3	19	8176044	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		8176044	50952939	90	15939											
FBN3	84467	broad.mit.edu	37	19	8201272	8201272	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:8201272C>T	uc002mjf.3	-	10	1362	c.1345_splice	c.e10+1	p.D449_splice		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	449	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGCGGCTCACCAATGCACTCG	0.652													T	8201272	C	T	8201272	3	4	230	1	0	0	0	0	1	0	0	0	5704	608	21	3	7300	3	FBN3	19	8201272	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	25228	8201272	50927711	91	15940											
RDH8	50700	broad.mit.edu	37	19	10131987	10131987	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:10131987C>T	uc002mmr.3	+	4	842	c.593C>T	c.(592-594)gCg>gTg	p.A198V		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	198					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGCTTCTGGCGCAGGTTTCT	0.602													T	10131987	C	T	10131987	3	4	230	1	0	0	0	0	1	0	0	0	13196	768	27	1	611	1	RDH8	19	10131987	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	1930715	10131987	48996996	92	15941											
OR10H5	284433	broad.mit.edu	37	19	15905052	15905052	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:15905052C>T	uc010xos.2	+	0	194	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TTCCTGTGTGCCCTCTCCATC	0.627													T	15905052	C	T	15905052	3	4	230	1	0	0	0	0	1	0	0	0	10909	739	26	3	196	3	OR10H5	19	15905052	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	5773065	15905052	43223931	93	15942											
TMEM59L	25789	broad.mit.edu	37	19	18724803	18724803	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:18724803C>T	uc010ebu.1	+	1	380	c.293C>T	c.(292-294)gCc>gTc	p.A98V	TMEM59L_uc002njy.4_Missense_Mutation_p.A98V	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	98						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AAGCCCAATGCCACCCAAACT	0.652													T	18724803	C	T	18724803	3	4	230	1	0	0	0	0	1	0	0	0	16183	739	26	3	299	3	TMEM59L	19	18724803	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	2819751	18724803	40404180	94	15943											
TSHZ3	57616	broad.mit.edu	37	19	31767776	31767776	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:31767776C>T	uc002nsy.4	-	1	2988	c.2923G>A	c.(2923-2925)Gtc>Atc	p.V975I		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	975					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			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)					CAAAAGAAGACGGGGTGGCCA	0.512													T	31767776	C	T	31767776	3	4	230	1	0	0	0	0	1	0	0	0	16622	536	19	1	326	1	TSHZ3	19	31767776	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	13042973	31767776	27361207	95	15944											
RYR1	6261	broad.mit.edu	37	19	38990563	38990563	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:38990563G>A	uc002oit.3	+	44	7360	c.7230G>A	c.(7228-7230)ccG>ccA	p.P2410P	RYR1_uc002oiu.3_Silent_p.P2410P|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2410	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			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)	GTGAGGAACCGCCTGAAGAAA	0.632													A	38990563	G	A	38990563	2	1	230	1	0	0	0	0	0	0	0	1	13768	1074	38	1		1	RYR1	19	38990563	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	7222787	38990563	20138420	96	15945											
PVRL2	5819	broad.mit.edu	37	19	45389216	45389216	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:45389216delA	uc002ozw.1	+	6	1609	c.1219delA	c.(1219-1221)aagfs	p.K407fs		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	407					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCCCTCCTACAAGCCACCAAC	0.602													-	45389216	A	-	45389216	7	5	230	1	0	1	0	1	0	0	0	0	12840	131	5	0	1647	0	PVRL2	19	45389216	Frame_Shift_Del	DEL	A	TCGA-32-2495-01A-01D-1353-08	6398653	45389216	13739767	97	15946											
FUT1	2523	broad.mit.edu	37	19	49253750	49253750	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:49253750G>A	uc002pkk.3	-	3	1764	c.789C>T	c.(787-789)aaC>aaT	p.N263N	FUT1_uc021uwy.1_Silent_p.N263N	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	263					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		ACTCCATGCCGTTGCTGGTGA	0.617													A	49253750	G	A	49253750	2	1	230	1	0	0	0	0	0	0	0	1	6101	1136	40	1		1	FUT1	19	49253750	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	3864534	49253750	9875233	98	15947											
ZNF528	84436	broad.mit.edu	37	19	52918768	52918768	+	Silent	SNP	C	C	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:52918768C>G	uc002pzh.3	+	6	1089	c.663C>G	c.(661-663)gtC>gtG	p.V221V	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTGGCAAGGTCTTTAGTTGCA	0.413													G	52918768	C	G	52918768	2	3	230	1	0	0	0	0	0	0	0	1	17966	900	32	5		5	ZNF528	19	52918768	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	3665018	52918768	6210215	99	15948											
KIR3DL2	3809	broad.mit.edu	37	19	55349278	55349278	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:55349278C>A	uc002qhm.1	+	2	364	c.318C>A	c.(316-318)caC>caA	p.H106Q	KIR3DL2_uc010yfj.2_Missense_Mutation_p.H99Q|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.H106Q|KIR3DL2_uc002qhn.1_Missense_Mutation_p.H53Q	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	201					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGTTCCTCACTCCCCCTATC	0.512													A	55349278	C	A	55349278	3	1	230	1	0	0	0	0	1	0	0	0	8321	564	20	5		5	KIR3DL2	19	55349278	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	2430510	55349278	3779705	100	15949											
ZNF274	10782	broad.mit.edu	37	19	58723892	58723892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:58723892C>T	uc002qrq.1	+	8	1801	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	ZNF274_uc002qrr.1_Nonsense_Mutation_p.R416*|ZNF274_uc002qrs.1_Nonsense_Mutation_p.R343*|ZNF274_uc010eum.1_Nonsense_Mutation_p.R208*	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	449					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCTAGAAAACGATTGCGCAA	0.428													T	58723892	C	T	58723892	4	4	230	1	0	0	0	0	0	1	0	0	17806	528	19	1	1370	1	ZNF274	19	58723892	Nonsense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	3374614	58723892	405091	101	15950											
WFDC11	259239	broad.mit.edu	37	20	44278019	44278020	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr20:44278019_44278020TT>AA	uc002xpa.3	-	3	314_315	c.119_120AA>TT	c.(118-120)gaa>gTT	p.E40V		NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN	Homo sapiens WAP four-disulfide core domain 11 (WFDC11), mRNA.	40						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CCCAGCATTCTTCAAGTAACAA	0.391													AA	44278020	TT	AA	44278019	3	1	230	1	0	0	0	0	1	0	0	0	17346	1606	56	5	151	5	WFDC11	20	44278019	Missense_Mutation	DNP	TT	TCGA-32-2495-01A-01D-1353-08		44278019	18747501	102	15951											
KRTAP6-2	337967	broad.mit.edu	37	21	31971188	31971188	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:31971188G>A	uc011adc.2	-	0	6	c.6C>T	c.(4-6)tgC>tgT	p.C2C	KRTAP22-1_uc011add.2_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.	2						intermediate filament		p.C2C(4)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGCTGCCGCACATCGTGA	0.512													A	31971188	G	A	31971188	2	1	230	1	0	0	0	0	0	0	0	1	8570	1079	38	1		1	KRTAP6-2	21	31971188	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08		31971188	16158707	103	15952											
DSCR6	53820	broad.mit.edu	37	21	38380461	38380461	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:38380461G>A	uc002yvv.3	+	1	319	c.109G>A	c.(109-111)Gcg>Acg	p.A37T	DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	37						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				TTCCAGCCCCGCGCCGTGGCG	0.582													A	38380461	G	A	38380461	3	1	230	1	0	0	0	0	1	0	0	0	4773	1087	38	1	115	1	DSCR6	21	38380461	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	6409273	38380461	9749434	104	15953											
MCM3AP	8888	broad.mit.edu	37	21	47662773	47662773	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:47662773A>C	uc002zir.1	-	24	5405	c.5369T>G	c.(5368-5370)tTg>tGg	p.L1790W	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.L285W|MCM3AP_uc002zip.1_Missense_Mutation_p.L531W|MCM3AP_uc002ziq.1_Missense_Mutation_p.L717W|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1790					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTCCCACGACAAAGGAACATC	0.403													C	47662773	A	C	47662773	3	2	230	1	0	0	0	0	1	0	0	0	9388	131	5	5	589	5	MCM3AP	21	47662773	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	9282312	47662773	467122	105	15954											
HSCB	150274	broad.mit.edu	37	22	29147228	29147228	+	Splice_Site	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr22:29147228G>A	uc003aea.3	+	5	610	c.569_splice	c.e5-1	p.A190_splice		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA.	190					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						TTCTTTTTCAGCTAAACAGAA	0.299													A	29147228	G	A	29147228	5	1	230	1	0	0	0	0	0	0	1	0	7374	985	34	3	586	3	HSCB	22	29147228	Splice_Site	SNP	G	TCGA-32-2495-01A-01D-1353-08		29147228	22157338	106	15955											
ARSH	347527	broad.mit.edu	37	X	2933417	2933417	+	Silent	SNP	A	A	G			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:2933417A>G	uc011mhj.2	+	3	747	c.747A>G	c.(745-747)gcA>gcG	p.A249A		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	249						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TGAAGGAGGCACTTGCTTTCA	0.398													G	2933417	A	G	2933417	2	3	230	1	0	0	0	0	0	0	0	1	993	146	6	4		4	ARSH	23	2933417	Silent	SNP	A	TCGA-32-2495-01A-01D-1353-08		2933417	152337143	107	15956											
FRMPD4	9758	broad.mit.edu	37	X	12736450	12736450	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:12736450G>A	uc004cuz.2	+	15	4011	c.3505G>A	c.(3505-3507)Gct>Act	p.A1169T	FRMPD4_uc011mij.2_Missense_Mutation_p.A1161T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1169					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCAGAGGACGCTGACTCGTC	0.542													A	12736450	G	A	12736450	3	1	230	1	0	0	0	0	1	0	0	0	6059	1087	38	1	3567	1	FRMPD4	23	12736450	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	9803033	12736450	142534110	108	15957											
CXorf59	286464	broad.mit.edu	37	X	36091481	36091481	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:36091481G>T	uc004ddk.1	+	4	602	c.416_splice	c.e4+1	p.R139_splice		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	139						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						ACTATAAGAAGGTGAGAGTCC	0.343													T	36091481	G	T	36091481	3	4	230	1	0	0	0	0	1	0	0	0	4115	1014	35	5	426	5	CXorf59	23	36091481	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	23355031	36091481	119179079	109	15958											
BCOR	54880	broad.mit.edu	37	X	39911637	39911637	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:39911637G>T	uc004den.4	-	14	5285	c.4993C>A	c.(4993-4995)Ctg>Atg	p.L1665M	BCOR_uc004dep.4_Missense_Mutation_p.L1631M|BCOR_uc004deo.4_Missense_Mutation_p.L1613M|BCOR_uc010nhb.3_3'UTR|BCOR_uc004dem.4_Missense_Mutation_p.L1631M	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1665					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCGAAAGCAGTAGCCAGTTT	0.393			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39911637	G	T	39911637	3	4	230	1	0	0	0	0	1	0	0	0	1386	1020	36	5	278	5	BCOR	23	39911637	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	3820156	39911637	115358923	110	15959											
HUWE1	10075	broad.mit.edu	37	X	53571567	53571567	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:53571567G>A	uc004dsp.3	-	71	11607	c.11205C>T	c.(11203-11205)gaC>gaT	p.D3735D	HUWE1_uc004dsn.3_Silent_p.D2543D|HUWE1_uc004dsq.1_Silent_p.D50D	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3735					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.D3625D(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCGCGTGTCGTCCCGGAGCT	0.552													A	53571567	G	A	53571567	2	1	230	1	0	0	0	0	0	0	0	1	7461	1136	40	1		1	HUWE1	23	53571567	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	13659930	53571567	101698993	111	15960											
OPHN1	4983	broad.mit.edu	37	X	67331781	67331781	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:67331781G>A	uc004dww.4	-	17	1735	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	OPHN1_uc011mpg.2_Missense_Mutation_p.R481C	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	481	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GCTCCTAGGCGGTAATCCAGG	0.428													A	67331781	G	A	67331781	3	1	230	1	0	0	0	0	1	0	0	0	10875	1116	39	2	995	2	OPHN1	23	67331781	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	13760214	67331781	87938779	112	15961											
TAF1	6872	broad.mit.edu	37	X	70598242	70598246	+	Frame_Shift_Del	DEL	ACTAT	ACTAT	-			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:70598242_70598246delACTAT	uc004dzu.4	+	6	1139_1143	c.1088_1092delACTAT	c.(1087-1092)gactatfs	p.D363fs	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Frame_Shift_Del_p.D384fs	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	363	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGTGGGTTTGACTATGGCTTCAAAC	0.454													-	70598246	ACTAT	-	70598242	7	5	230	1	0	1	0	1	0	0	0	0	15510	275	10	0	1177	0	TAF1	23	70598242	Frame_Shift_Del	DEL	ACTAT	TCGA-32-2495-01A-01D-1353-08	3266461	70598242	84672318	113	15962											
CAPN6	827	broad.mit.edu	37	X	110494471	110494471	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:110494471G>C	uc004epc.2	-	6	1128	c.937C>G	c.(937-939)Ctg>Gtg	p.L313V	CAPN6_uc011msu.2_Missense_Mutation_p.L58V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	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(2)		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	0.393													C	110494471	G	C	110494471	3	2	230	1	0	0	0	0	1	0	0	0	2630	991	35	5	1016	5	CAPN6	23	110494471	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	39896229	110494471	44776089	114	15963											
GRIA3	2892	broad.mit.edu	37	X	122538688	122538688	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:122538688G>A	uc004etq.4	+	9	1715	c.1423G>A	c.(1423-1425)Gtt>Att	p.V475I	GRIA3_uc004etr.4_Missense_Mutation_p.V475I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.V459I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	475					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ATTGTCCATCGTTGGTGACGG	0.418													A	122538688	G	A	122538688	3	1	230	1	0	0	0	0	1	0	0	0	6769	1145	40	1	1461	1	GRIA3	23	122538688	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	12044217	122538688	32731872	115	15964											
GPR112	139378	broad.mit.edu	37	X	135496349	135496349	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:135496349G>C	uc004ezu.1	+	24	9359	c.9068G>C	c.(9067-9069)gGa>gCa	p.G3023A	GPR112_uc010nsb.1_Missense_Mutation_p.G2818A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	3023					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			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)					ATAAAGGTTGGATATAAACAG	0.363													C	135496349	G	C	135496349	3	2	230	1	0	0	0	0	1	0	0	0	6629	1174	41	5	9154	5	GPR112	23	135496349	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	12957661	135496349	19774211	116	15965											
PLXNA3	55558	broad.mit.edu	37	X	153694760	153694760	+	Silent	SNP	G	G	A			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:153694760G>A	uc004flm.3	+	15	3014	c.2841G>A	c.(2839-2841)gcG>gcA	p.A947A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	947	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGCCCGGCGTCCGGGGGCA	0.662													A	153694760	G	A	153694760	2	1	230	1	0	0	0	0	0	0	0	1	12121	1132	40	1		1	PLXNA3	23	153694760	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	18198411	153694760	1575800	117	15966											
FAF1	11124	broad.mit.edu	37	1	51001131	51001131	+	Splice_Site	SNP	T	T	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:51001131T>C	uc001cse.1	-	15	1859	c.1406_splice	c.e15-1	p.G469_splice	FAF1_uc009vyw.1_Splice_Site|FAF1_uc010onc.1_Splice_Site_p.G227_splice	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	469					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTGTTCCCTAAAAACATAT	0.323													C	51001131	T	C	51001131	5	2	231	1	0	0	0	0	0	0	1	0	5369	1536	53	4	568	4	FAF1	1	51001131	Splice_Site	SNP	T	TCGA-32-2615-01A-01D-1495-08		51001131	198249490	1	15967											
ASTN1	460	broad.mit.edu	37	1	176993825	176993825	+	Silent	SNP	C	C	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:176993825C>A	uc001glc.3	-	5	1376	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L	ASTN1_uc001glb.1_Silent_p.L388L|ASTN1_uc001gld.1_Silent_p.L388L|ASTN1_uc009wwx.1_Silent_p.L388L|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	388					cell migration|neuron cell-cell adhesion	integral to membrane				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						TGATGCTGATCAGGGTCAAGG	0.512													A	176993825	C	A	176993825	2	1	231	1	0	0	0	0	0	0	0	1	1064	813	29	5		5	ASTN1	1	176993825	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	125992694	176993825	72256796	2	15968											
PROX1	5629	broad.mit.edu	37	1	214209144	214209144	+	Silent	SNP	C	C	G			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:214209144C>G	uc001hkh.3	+	4	2453	c.2181C>G	c.(2179-2181)tcC>tcG	p.S727S		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	727	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTTTCAAATCCCCGAACTGCC	0.423													G	214209144	C	G	214209144	2	3	231	1	0	0	0	0	0	0	0	1	12560	610	22	5		5	PROX1	1	214209144	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	37215319	214209144	35041477	3	15969											
TPO	7173	broad.mit.edu	37	2	1480946	1480946	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:1480946C>T	uc002qwr.3	+	7	994	c.908C>T	c.(907-909)gCg>gTg	p.A303V	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.A303V|TPO_uc002qwx.3_Missense_Mutation_p.A303V|TPO_uc002qwu.3_Missense_Mutation_p.A303V|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Missense_Mutation_p.A303V	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	303					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCAAGGCGCGCTCTTTGGG	0.706													T	1480946	C	T	1480946	3	4	231	1	0	0	0	0	1	0	0	0	16407	768	27	1	934	1	TPO	2	1480946	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		1480946	241718427	4	15970											
APOB	338	broad.mit.edu	37	2	21233706	21233706	+	Nonsense_Mutation	SNP	G	G	A	rs147863759		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:21233706G>A	uc002red.3	-	25	6162	c.6034C>T	c.(6034-6036)Cga>Tga	p.R2012*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2012					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCAGAGTTCGTCCAGTAAGC	0.428													A	21233706	G	A	21233706	4	1	231	1	0	0	0	0	0	1	0	0	785	1153	40	1	7673	1	APOB	2	21233706	Nonsense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	19752760	21233706	221965667	5	15971											
THSD7B	80731	broad.mit.edu	37	2	137988734	137988734	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:137988734A>C	uc002tva.1	+	6	1751	c.1751A>C	c.(1750-1752)cAg>cCg	p.Q584P	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.Q474P	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTGTTCCCAGTCCTGTTCA	0.507													C	137988734	A	C	137988734	3	2	231	1	0	0	0	0	1	0	0	0	15877	188	7	5	1777	5	THSD7B	2	137988734	Missense_Mutation	SNP	A	TCGA-32-2615-01A-01D-1495-08	116755028	137988734	105210639	6	15972											
ITIH3	3699	broad.mit.edu	37	3	52828907	52828907	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr3:52828907C>T	uc003dfv.2	+	0	124	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	ITIH3_uc011bek.1_Missense_Mutation_p.L30F	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	30	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTTCGGCTGCTTGGGGTGAG	0.587													T	52828907	C	T	52828907	3	4	231	1	0	0	0	0	1	0	0	0	7905	797	28	3	90	3	ITIH3	3	52828907	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		52828907	145193523	7	15973											
DPPA4	55211	broad.mit.edu	37	3	109046840	109046840	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr3:109046840C>T	uc003dxq.4	-	6	965	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	DPPA4_uc011bho.2_3'UTR	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	304						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ATATTCTATTCCCATTGGAGG	0.373													T	109046840	C	T	109046840	3	4	231	1	0	0	0	0	1	0	0	0	4736	864	30	3	8	3	DPPA4	3	109046840	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	56217933	109046840	88975590	8	15974											
NUP54	53371	broad.mit.edu	37	4	77069476	77069476	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr4:77069476T>G	uc003hjs.3	-	0	180	c.52A>C	c.(52-54)Acc>Ccc	p.T18P	NUP54_uc010ije.3_5'UTR|NUP54_uc011cbs.2_5'UTR|NUP54_uc011cbt.2_Missense_Mutation_p.T18P|NUP54_uc003hjt.3_5'UTR	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	18	9 X 2 AA repeats of F-G.|Gly-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						GGGGCCGCGGTGGCTGCAGCG	0.667													G	77069476	T	G	77069476	3	3	231	1	0	0	0	0	1	0	0	0	10767	1696	59	5	1519	5	NUP54	4	77069476	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08		77069476	114084800	9	15975											
EGR1	1958	broad.mit.edu	37	5	137803130	137803130	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:137803130C>T	uc003ldb.1	+	1	1262	c.992C>T	c.(991-993)aCg>aTg	p.T331M		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCAGCAAGACGCCCCCCCAC	0.652													T	137803130	C	T	137803130	3	4	231	1	0	0	0	0	1	0	0	0	4971	536	19	1	998	1	EGR1	5	137803130	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		137803130	43112130	10	15976											
PCDHAC2	56145	broad.mit.edu	37	5	140181750	140181750	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:140181750C>T	uc003lhf.2	+	0	968	c.968C>T	c.(967-969)aCg>aTg	p.T323M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.T323M	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	338	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGAAGCCACGGATAAAGGA	0.378													T	140181750	C	T	140181750	3	4	231	1	0	0	0	0	1	0	0	0	11533	536	19	1		1	PCDHAC2	5	140181750	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	2378620	140181750	40733510	11	15977											
ARAP3	64411	broad.mit.edu	37	5	141041300	141041300	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:141041300G>A	uc003llm.3	-	20	3148	c.3070C>T	c.(3070-3072)Ccg>Tcg	p.P1024S	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.P686S|ARAP3_uc003lln.3_Missense_Mutation_p.P855S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1024	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTGACCCGCGGCAGGCAGCCA	0.572													A	141041300	G	A	141041300	3	1	231	1	0	0	0	0	1	0	0	0	840	1203	42	3	1616	3	ARAP3	5	141041300	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	859550	141041300	39873960	12	15978											
SH3RF2	153769	broad.mit.edu	37	5	145428731	145428731	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:145428731C>T	uc003lnt.3	+	6	1483	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	SH3RF2_uc011dbl.1_Silent_p.D415D|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	415	SH3 3.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGCCAGGACGGCTGGCTCA	0.597											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	145428731	C	T	145428731	2	4	231	1	0	0	0	0	0	0	0	1	14259	535	19	1		1	SH3RF2	5	145428731	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	4387431	145428731	35486529	13	15979											
PRSS16	10279	broad.mit.edu	37	6	27216987	27216987	+	Missense_Mutation	SNP	G	G	A	rs145240806		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:27216987G>A	uc003nja.3	+	3	461	c.446G>A	c.(445-447)cGc>cAc	p.R149H	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Missense_Mutation_p.R39H|PRSS16_uc010jqr.1_Missense_Mutation_p.R39H|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	149					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCAGCTCCGCTTCTTGTCC	0.562													A	27216987	G	A	27216987	3	1	231	1	0	0	0	0	1	0	0	0	12616	1087	38	1	460	1	PRSS16	6	27216987	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		27216987	143898080	14	15980											
HIST1H2BO	8348	broad.mit.edu	37	6	27861564	27861564	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:27861564C>T	uc003nkc.1	+	0	362	c.324C>T	c.(322-324)gcC>gcT	p.A108A	HIST1H3J_uc003nka.3_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	NM_003527	NP_003518	P23527	H2B1O_HUMAN	Homo sapiens histone cluster 1, H2bo (HIST1H2BO), mRNA.	108					nucleosome assembly	nucleosome|nucleus	DNA binding										GGGAGCTGGCCAAGCACGCCG	0.637													T	27861564	C	T	27861564	2	4	231	1	0	0	0	0	0	0	0	1	7154	581	21	3		3	HIST1H2BO	6	27861564	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	644577	27861564	143253503	15	15981											
OR2J3	442186	broad.mit.edu	37	6	29080293	29080293	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:29080293T>C	uc011dll.2	+	0	626	c.626T>C	c.(625-627)tTt>tCt	p.F209S		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209C(2)|p.I208T(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AGCTCCATATTTGTTCTCATA	0.448													C	29080293	T	C	29080293	3	2	231	1	0	0	0	0	1	0	0	0	11004	1841	64	4	628	4	OR2J3	6	29080293	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08	1218729	29080293	142034774	16	15982											
ZBTB12	221527	broad.mit.edu	37	6	31868436	31868436	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:31868436G>A	uc003nyd.1	-	1	823	c.647C>T	c.(646-648)gCc>gTc	p.A216V	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Missense_Mutation_p.A216V|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CACCTCCAGGGCCGACTCCAC	0.627													A	31868436	G	A	31868436	3	1	231	1	0	0	0	0	1	0	0	0	17522	1203	42	3	736	3	ZBTB12	6	31868436	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	2788143	31868436	139246631	17	15983											
ZNF318	24149	broad.mit.edu	37	6	43325085	43325085	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:43325085G>A	uc003oux.3	-	2	1045	c.967C>T	c.(967-969)Cga>Tga	p.R323*	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	323					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.R322R(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTCGCTTTCGTCTGGCAAGA	0.522													A	43325085	G	A	43325085	4	1	231	1	0	0	0	0	0	1	0	0	17833	1153	40	1	5904	1	ZNF318	6	43325085	Nonsense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	11456649	43325085	127789982	18	15984											
IMPG1	3617	broad.mit.edu	37	6	76782168	76782169	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:76782168_76782169insA	uc003pik.1	-	0	167_168	c.37_38insT	c.(37-39)tggfs	p.W13fs		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	13					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAGAAAAATCCAAAAAACAAAA	0.287													A	76782169	-	A	76782168	7	5	231	1	0	1	1	0	0	0	0	0	7728	595	21	0	2423	0	IMPG1	6	76782168	Frame_Shift_Ins	INS	-	TCGA-32-2615-01A-01D-1495-08	33457083	76782168	94332899	19	15985											
TNPO3	23534	broad.mit.edu	37	7	128612562	128612562	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:128612562G>A	uc010lly.2	-	18	2853	c.2450C>T	c.(2449-2451)tCt>tTt	p.S817F	TNPO3_uc010llx.2_Missense_Mutation_p.S194F|TNPO3_uc003vol.2_Missense_Mutation_p.S783F|TNPO3_uc010llz.2_Missense_Mutation_p.S719F|TNPO3_uc003vom.2_Missense_Mutation_p.S717F	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	783					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CAGGGTAGTAGAGGCAATGGC	0.478													A	128612562	G	A	128612562	3	1	231	1	0	0	0	0	1	0	0	0	16334	942	33	3	439	3	TNPO3	7	128612562	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		128612562	30526101	20	15986											
PARP12	64761	broad.mit.edu	37	7	139746776	139746776	+	Silent	SNP	C	C	T	rs147556524		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:139746776C>T	uc003vvl.1	-	4	1768	c.894G>A	c.(892-894)ccG>ccA	p.P298P	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	298	WWE 1.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	p.P298P(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCCATCGATACGGCAAATGGA	0.403													T	139746776	C	T	139746776	2	4	231	1	0	0	0	0	0	0	0	1	11457	523	19	1		1	PARP12	7	139746776	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	11134214	139746776	19391887	21	15987											
NOBOX	135935	broad.mit.edu	37	7	144097327	144097327	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:144097327G>A	uc022aoj.1	-	4	923	c.923C>T	c.(922-924)aCg>aTg	p.T308M		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	308					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CACCCCCACCGTCTGGGCAAT	0.552													A	144097327	G	A	144097327	3	1	231	1	0	0	0	0	1	0	0	0	10512	1145	40	1	1080	1	NOBOX	7	144097327	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	4350551	144097327	15041336	22	15988											
ZNF282	8427	broad.mit.edu	37	7	148920939	148920940	+	Frame_Shift_Ins	INS	-	-	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:148920939_148920940insC	uc003wfm.3	+	7	1321_1322	c.1216_1217insC	c.(1216-1218)gccfs	p.A406fs	ZNF282_uc011kun.1_Frame_Shift_Ins_p.A406fs|ZNF282_uc003wfo.3_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	406					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		cccacccccggccccgccacag	0.703													C	148920940	-	C	148920939	7	5	231	1	0	1	1	0	0	0	0	0	17816	1203	42	0	1246	0	ZNF282	7	148920939	Frame_Shift_Ins	INS	-	TCGA-32-2615-01A-01D-1495-08	4823612	148920939	10217724	23	15989											
XKR4	114786	broad.mit.edu	37	8	56270319	56270319	+	Silent	SNP	A	A	G			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr8:56270319A>G	uc003xsf.3	+	1	920	c.888A>G	c.(886-888)gtA>gtG	p.V296V		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	296						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGAAAATGGTATATGAGTATG	0.438													G	56270319	A	G	56270319	2	3	231	1	0	0	0	0	0	0	0	1	17430	436	16	4		4	XKR4	8	56270319	Silent	SNP	A	TCGA-32-2615-01A-01D-1495-08		56270319	90093703	24	15990											
CPSF1	29894	broad.mit.edu	37	8	145624369	145624369	+	Silent	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr8:145624369G>A	uc003zcj.3	-	15	1602	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	509					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACAAAGCCCCGTTCTTCCCGT	0.677													A	145624369	G	A	145624369	2	1	231	1	0	0	0	0	0	0	0	1	3824	1136	40	1		1	CPSF1	8	145624369	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08	89354050	145624369	739653	25	15991											
ASS1	445	broad.mit.edu	37	9	133342180	133342180	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr9:133342180C>T	uc010mza.3	+	6	1225	c.717C>T	c.(715-717)taC>taT	p.Y239Y	ASS1_uc004bzm.3_Silent_p.Y163Y|ASS1_uc004bzn.3_Silent_p.Y163Y	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	163					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.K239N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGATGGAGTACGCAAAGGTAT	0.612													T	133342180	C	T	133342180	2	4	231	1	0	0	0	0	0	0	0	1	1061	547	19	1		1	ASS1	9	133342180	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08		133342180	7871251	26	15992											
AKR1C4	1109	broad.mit.edu	37	10	5238864	5238864	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:5238864G>A	uc001ihw.2	+	0	67	c.34G>A	c.(34-36)Gat>Aat	p.D12N		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	12					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	AGAGCTAAATGATGGTCACTT	0.418													A	5238864	G	A	5238864	3	1	231	1	0	0	0	0	1	0	0	0	472	1290	45	3	36	3	AKR1C4	10	5238864	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		5238864	130295883	27	15993											
TAF3	83860	broad.mit.edu	37	10	8006394	8006394	+	Silent	SNP	A	A	G			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:8006394A>G	uc010qbd.2	+	2	921	c.921A>G	c.(919-921)aaA>aaG	p.K307K		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	307					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTGTATCCAAAGAAAAGAAAT	0.493													G	8006394	A	G	8006394	2	3	231	1	0	0	0	0	0	0	0	1	15522	69	3	4		4	TAF3	10	8006394	Silent	SNP	A	TCGA-32-2615-01A-01D-1495-08	2767530	8006394	127528353	28	15994											
OPN4	94233	broad.mit.edu	37	10	88419055	88419055	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:88419055C>T	uc010qmk.1	+	6	889	c.662_splice	c.e6-1	p.S221_splice	OPN4_uc001kdp.3_Splice_Site_p.S221_splice|OPN4_uc001kdq.3_Splice_Site_p.S210_splice|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	210					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGCTCCCAGGCGCCTACGTGC	0.622													T	88419055	C	T	88419055	2	4	231	1	0	0	0	0	0	0	0	1	10882	782	27	1		1	OPN4	10	88419055	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	80412661	88419055	47115692	29	15995											
LOC729020	729020	broad.mit.edu	37	10	105005758	105005758	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:105005758C>T	uc009xxi.2	+	0	115	c.5C>T	c.(4-6)gCg>gTg	p.A2V	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	2					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										AGCGGTATGGCGTCGGGCTGC	0.522													T	105005758	C	T	105005758	3	4	231	1	0	0	0	0	1	0	0	0	8888	768	27	1	7	1	LOC729020	10	105005758	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	16586703	105005758	30528989	30	15996											
OR52M1	119772	broad.mit.edu	37	11	4566916	4566916	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:4566916C>T	uc010qyf.2	+	0	496	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGATGATCCGCCTGCGGCT	0.522													T	4566916	C	T	4566916	3	4	231	1	0	0	0	0	1	0	0	0	11126	652	23	2	498	2	OR52M1	11	4566916	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		4566916	130439600	31	15997											
MRVI1	10335	broad.mit.edu	37	11	10647541	10647541	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:10647541C>G	uc010rcc.1	-	8	1726	c.1340G>C	c.(1339-1341)cGg>cCg	p.R447P	MRVI1_uc010rcb.1_Missense_Mutation_p.R439P|MRVI1_uc001miw.2_Missense_Mutation_p.R438P|MRVI1_uc001mix.3_Missense_Mutation_p.R132P|MRVI1_uc001miz.2_Missense_Mutation_p.R356P|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.R132P|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	420					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTTCTGCATCCGCACGGGCTG	0.597													G	10647541	C	G	10647541	3	3	231	1	0	0	0	0	1	0	0	0	9853	652	23	5	1450	5	MRVI1	11	10647541	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	6080625	10647541	124358975	32	15998											
HTR3A	3359	broad.mit.edu	37	11	113853896	113853896	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:113853896C>T	uc010rxb.2	+	4	680	c.447C>T	c.(445-447)ggC>ggT	p.G149G	HTR3A_uc010rxa.2_Silent_p.G149G|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.G128G	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	143					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.K149R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GGCATCAAGGCGAAGTTCAGA	0.537													T	113853896	C	T	113853896	2	4	231	1	0	0	0	0	0	0	0	1	7444	755	27	1		1	HTR3A	11	113853896	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	103206355	113853896	21152620	33	15999											
CPNE8	144402	broad.mit.edu	37	12	39155951	39155951	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:39155951T>A	uc001rls.1	-	8	727	c.643A>T	c.(643-645)Atc>Ttc	p.I215F		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	215	C2 2.							p.K214N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGACTGAGATCTTGAATGCT	0.308													A	39155951	T	A	39155951	3	1	231	1	0	0	0	0	1	0	0	0	3818	1435	50	5	1099	5	CPNE8	12	39155951	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08		39155951	94695944	34	16000											
KIF21A	55605	broad.mit.edu	37	12	39726188	39726188	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:39726188C>A	uc001rly.3	-	20	3299	c.2879G>T	c.(2878-2880)aGa>aTa	p.R960I	KIF21A_uc001rlv.3_5'UTR|KIF21A_uc001rlw.3_Missense_Mutation_p.R277I|KIF21A_uc001rlx.3_Missense_Mutation_p.R947I|KIF21A_uc001rlz.3_Missense_Mutation_p.R924I|KIF21A_uc010skl.2_Missense_Mutation_p.R947I	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	960					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTCTCTCGTCTTTTTGTGAG	0.398													A	39726188	C	A	39726188	3	1	231	1	0	0	0	0	1	0	0	0	8288	913	32	5	2217	5	KIF21A	12	39726188	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	570237	39726188	94125707	35	16001											
GRIP1	23426	broad.mit.edu	37	12	66838466	66838466	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:66838466C>T	uc001stk.3	-	11	1670	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	GRIP1_uc010sta.1_Missense_Mutation_p.G421R|GRIP1_uc001stj.3_Missense_Mutation_p.G259R|GRIP1_uc001stm.3_Missense_Mutation_p.G477R|GRIP1_uc001stl.1_Missense_Mutation_p.G369R	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	529	PDZ 4.				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			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)		GTTGGAATTCCATTGATGGCC	0.458													T	66838466	C	T	66838466	3	4	231	1	0	0	0	0	1	0	0	0	6787	603	21	3	1853	3	GRIP1	12	66838466	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	27112278	66838466	67013429	36	16002											
OAS2	4939	broad.mit.edu	37	12	113435338	113435338	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:113435338T>A	uc001tuj.3	+	3	781	c.641T>A	c.(640-642)aTc>aAc	p.I214N	OAS2_uc001tui.1_Missense_Mutation_p.I214N	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	214	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGAAAAAAATCAAGGATTTA	0.488													A	113435338	T	A	113435338	3	1	231	1	0	0	0	0	1	0	0	0	10800	1435	50	5	726	5	OAS2	12	113435338	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08	46596872	113435338	20416557	37	16003											
ULK1	8408	broad.mit.edu	37	12	132379629	132379629	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:132379629C>T	uc001uje.3	+	0	351	c.83C>T	c.(82-84)gCg>gTg	p.A28V		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	28	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGCGCCTTCGCGGTGGTCTTC	0.751													T	132379629	C	T	132379629	3	4	231	1	0	0	0	0	1	0	0	0	16972	768	27	1	85	1	ULK1	12	132379629	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	18944291	132379629	1472266	38	16004											
KLHL1	57626	broad.mit.edu	37	13	70314591	70314591	+	Silent	SNP	T	T	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr13:70314591T>C	uc001vip.3	-	7	2531	c.1737A>G	c.(1735-1737)caA>caG	p.Q579Q	KLHL1_uc010thm.2_Silent_p.Q518Q	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	579					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Q579K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAATGTCCATTGTTGACTCT	0.413													C	70314591	T	C	70314591	2	2	231	1	0	0	0	0	0	0	0	1	8365	1490	52	4		4	KLHL1	13	70314591	Silent	SNP	T	TCGA-32-2615-01A-01D-1495-08		70314591	44855287	39	16005											
CLEC14A	161198	broad.mit.edu	37	14	38723832	38723832	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr14:38723832C>A	uc001wum.1	-	0	1743	c.1396G>T	c.(1396-1398)Gtc>Ttc	p.V466F		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	466						integral to membrane	sugar binding	p.V466V(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGTCCCCGACTTTCACCCCA	0.602													A	38723832	C	A	38723832	3	1	231	1	0	0	0	0	1	0	0	0	3499	565	20	5	80	5	CLEC14A	14	38723832	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		38723832	68625708	40	16006											
NR2F2	7026	broad.mit.edu	37	15	96877485	96877485	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr15:96877485G>C	uc010uri.2	+	1	1847	c.623G>C	c.(622-624)gGt>gCt	p.G208A	NR2F2_uc002btp.3_Missense_Mutation_p.G75A|NR2F2_uc010urj.2_Missense_Mutation_p.G55A|NR2F2_uc010urk.2_Missense_Mutation_p.G55A	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	208	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AACATCATGGGTATCGAGAAC	0.602													C	96877485	G	C	96877485	3	2	231	1	0	0	0	0	1	0	0	0	10628	1261	44	5	676	5	NR2F2	15	96877485	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		96877485	5653907	41	16007											
CDKN2D	1032	broad.mit.edu	37	19	10678076	10678076	+	Silent	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:10678076G>A	uc002mpa.3	-	1	461	c.159C>T	c.(157-159)agC>agT	p.S53S	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.3_Silent_p.S53S	NM_001800	NP_524145	P55273	CDN2D_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) (CDKN2D), transcript variant 1, mRNA.	53					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CGATGGCGGTGCTGCCAAACA	0.592													A	10678076	G	A	10678076	2	1	231	1	0	0	0	0	0	0	0	1	3166	1310	46	3		3	CDKN2D	19	10678076	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08		10678076	48450907	42	16008											
CYP4F11	57834	broad.mit.edu	37	19	16025181	16025181	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:16025181C>T	uc002nbu.2	-	11	1367	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	CYP4F11_uc010eab.1_Silent_p.P422P|CYP4F11_uc002nbt.2_Missense_Mutation_p.R444H	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	444					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TTGGTCGAAACGGAAGGGGTC	0.587													T	16025181	C	T	16025181	3	4	231	1	0	0	0	0	1	0	0	0	4186	536	19	1	251	1	CYP4F11	19	16025181	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	5347105	16025181	43103802	43	16009											
HKR1	284459	broad.mit.edu	37	19	37853365	37853365	+	Missense_Mutation	SNP	G	G	A	rs112164866		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:37853365G>A	uc002ogb.3	+	5	937	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	HKR1_uc002ofx.3_5'UTR|HKR1_uc002ofy.3_5'UTR|HKR1_uc002oga.3_Missense_Mutation_p.R205Q|HKR1_uc010xto.2_Missense_Mutation_p.R205Q|HKR1_uc002ogc.3_Missense_Mutation_p.R204Q|HKR1_uc010xtp.2_Missense_Mutation_p.R162Q|HKR1_uc002ogd.3_Missense_Mutation_p.R162Q	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	223					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCCTGAACGGAGGGCAGAT	0.468													A	37853365	G	A	37853365	3	1	231	1	0	0	0	0	1	0	0	0	7194	1116	39	2	682	2	HKR1	19	37853365	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	21828184	37853365	21275618	44	16010											
CRX	1406	broad.mit.edu	37	19	48342915	48342915	+	Silent	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:48342915G>A	uc002phq.4	+	3	795	c.591G>A	c.(589-591)ccG>ccA	p.P197P		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	197					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P197P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCTACGCCCCGGCCTCCGCTT	0.672													A	48342915	G	A	48342915	2	1	231	1	0	0	0	0	0	0	0	1	3902	1103	39	2		2	CRX	19	48342915	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08	10489550	48342915	10786068	45	16011											
R3HDML	140902	broad.mit.edu	37	20	42979302	42979302	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr20:42979302G>A	uc002xls.1	+	4	804	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	211						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TCTTCCAGGGGCAACTGGATT	0.567													A	42979302	G	A	42979302	3	1	231	1	0	0	0	0	1	0	0	0	12889	1203	42	3	650	3	R3HDML	20	42979302	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		42979302	20046218	46	16012											
MPPED1	758	broad.mit.edu	37	22	43831125	43831125	+	Silent	SNP	C	C	T			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr22:43831125C>T	uc011apz.2	+	2	836	c.495C>T	c.(493-495)aaC>aaT	p.N165N	MPPED1_uc011apv.2_Silent_p.N132N|MPPED1_uc011apw.2_Silent_p.N26N|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Silent_p.N132N	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	132							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				AGAAGTTCAACGAGTGGCTGG	0.682													T	43831125	C	T	43831125	2	4	231	1	0	0	0	0	0	0	0	1	9741	535	19	1		1	MPPED1	22	43831125	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08		43831125	7473441	47	16013											
ZIC3	7547	broad.mit.edu	37	X	136649606	136649606	+	Silent	SNP	G	G	A			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chrX:136649606G>A	uc004fak.3	+	0	1261	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_003413	NP_003404	O60481	ZIC3_HUMAN	Homo sapiens Zic family member 3 (ZIC3), mRNA.	252					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGGAGCTGTCGTGCAAGTGGA	0.607													A	136649606	G	A	136649606	2	1	231	1	0	0	0	0	0	0	0	1	17677	1132	40	1		1	ZIC3	23	136649606	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08		136649606	18620954	48	16014											
ABCD3	5825	broad.mit.edu	37	1	94953473	94953473	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:94953473T>C	uc010oto.2	+	13	1265	c.1163T>C	c.(1162-1164)cTt>cCt	p.L388P	ABCD3_uc001dqn.4_Missense_Mutation_p.L364P|ABCD3_uc010otp.2_Missense_Mutation_p.L291P|ABCD3_uc009wdr.3_Intron|ABCD3_uc001dqo.4_Missense_Mutation_p.L52P	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	364					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GGAAGAATGCTTTTGCGAATG	0.333													C	94953473	T	C	94953473	3	2	232	1	0	0	0	0	1	0	0	0	62	1609	56	4	1172	4	ABCD3	1	94953473	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08		94953473	154297148	1	16015											
NOTCH2	4853	broad.mit.edu	37	1	120464949	120464949	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:120464949G>C	uc001eik.3	-	27	5420	c.5123C>G	c.(5122-5124)tCt>tGt	p.S1708C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1708					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCCAGAGAGAGCCATGCTT	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				C	120464949	G	C	120464949	3	2	232	1	0	0	0	0	1	0	0	0	10548	942	33	5	2320	5	NOTCH2	1	120464949	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	25511476	120464949	128785672	2	16016											
FLG	2312	broad.mit.edu	37	1	152278815	152278815	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:152278815G>A	uc001ezu.1	-	2	8583	c.8547C>T	c.(8545-8547)gaC>gaT	p.D2849D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2849	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GCCTGGAGCCGTCTCCTGATT	0.567									Ichthyosis				A	152278815	G	A	152278815	2	1	232	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152278815	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	31813866	152278815	96971806	3	16017											
FLG	2312	broad.mit.edu	37	1	152280892	152280892	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:152280892G>A	uc001ezu.1	-	2	6506	c.6470C>T	c.(6469-6471)tCg>tTg	p.S2157L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2157	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2157S(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)			CCTATCTACCGATTGCTCTTG	0.597									Ichthyosis				A	152280892	G	A	152280892	3	1	232	1	0	0	0	0	1	0	0	0	5922	1059	37	2	5719	2	FLG	1	152280892	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2077	152280892	96969729	4	16018											
SPTA1	6708	broad.mit.edu	37	1	158614180	158614180	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:158614180G>C	uc001fst.1	-	29	4400	c.4201C>G	c.(4201-4203)Cag>Gag	p.Q1401E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1401					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q1401Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTTCCCCTGGAACATCTAT	0.453													C	158614180	G	C	158614180	3	2	232	1	0	0	0	0	1	0	0	0	15115	1357	47	5	3150	5	SPTA1	1	158614180	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	6333288	158614180	90636441	5	16019											
F5	2153	broad.mit.edu	37	1	169525893	169525893	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:169525893G>A	uc001ggg.1	-	5	1088	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	315	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCTTGCAAATGTTTTGGGGTG	0.483													A	169525893	G	A	169525893	3	1	232	1	0	0	0	0	1	0	0	0	5348	1377	48	3	5811	3	F5	1	169525893	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	10911713	169525893	79724728	6	16020											
RGL1	23179	broad.mit.edu	37	1	183849845	183849845	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:183849845A>C	uc001gqm.3	+	5	1087	c.626A>C	c.(625-627)tAt>tCt	p.Y209S	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.Y172S|RGL1_uc010poh.2_Missense_Mutation_p.Y172S|RGL1_uc001gqo.3_Missense_Mutation_p.Y174S|RGL1_uc010poi.2_Missense_Mutation_p.Y174S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	174					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.Y209S(4)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGCTGGATTATCTCACACGG	0.498													C	183849845	A	C	183849845	3	2	232	1	0	0	0	0	1	0	0	0	13276	449	16	5	644	5	RGL1	1	183849845	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	14323952	183849845	65400776	7	16021	19	2									
RGL1	23179	broad.mit.edu	37	1	183849848	183849848	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:183849848T>A	uc001gqm.3	+	5	1090	c.629T>A	c.(628-630)cTc>cAc	p.L210H	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.L173H|RGL1_uc010poh.2_Missense_Mutation_p.L173H|RGL1_uc001gqo.3_Missense_Mutation_p.L175H|RGL1_uc010poi.2_Missense_Mutation_p.L175H	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	175					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.Y209S(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGGATTATCTCACACGGATG	0.488													A	183849848	T	A	183849848	3	1	232	1	0	0	0	0	1	0	0	0	13276	1551	54	5	647	5	RGL1	1	183849848	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	3	183849848	65400773	8	16022	19	2									
ASPM	259266	broad.mit.edu	37	1	197112574	197112574	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:197112574A>G	uc001gtu.3	-	2	1065	c.808T>C	c.(808-810)Tct>Cct	p.S270P	ASPM_uc001gtv.3_Missense_Mutation_p.S270P|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	270					mitosis	cytoplasm|nucleus	calmodulin binding			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						TCATTAAAAGAAACTTTTGAA	0.378													G	197112574	A	G	197112574	3	3	232	1	0	0	0	0	1	0	0	0	1056	246	9	4	9729	4	ASPM	1	197112574	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	13262726	197112574	52138047	9	16023											
PUM2	23369	broad.mit.edu	37	2	20482930	20482930	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:20482930G>A	uc002rds.1	-	10	1516	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	PUM2_uc002rdt.1_Missense_Mutation_p.R500W|PUM2_uc002rdr.2_Missense_Mutation_p.R439W|PUM2_uc010yjy.1_Missense_Mutation_p.R500W|PUM2_uc002rdu.1_Missense_Mutation_p.R500W|PUM2_uc010yjz.1_Missense_Mutation_p.R439W	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	500					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATTGGCCGAAACAGACCA	0.453													A	20482930	G	A	20482930	3	1	232	1	0	0	0	0	1	0	0	0	12826	1057	37	2	1736	2	PUM2	2	20482930	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		20482930	222716443	10	16024											
QPCT	25797	broad.mit.edu	37	2	37599531	37599531	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:37599531G>A	uc002rqg.3	+	5	978	c.856G>A	c.(856-858)Gat>Aat	p.D286N		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	286					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTTGCTCAAGGATCACTCTTT	0.358													A	37599531	G	A	37599531	3	1	232	1	0	0	0	0	1	0	0	0	12874	1174	41	3	878	3	QPCT	2	37599531	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	17116601	37599531	205599842	11	16025											
SLC5A7	60482	broad.mit.edu	37	2	108614387	108614387	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:108614387T>A	uc002tdv.3	+	4	818	c.542T>A	c.(541-543)cTc>cAc	p.L181H	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.L181H|SLC5A7_uc010ywn.2_Missense_Mutation_p.L68H	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	181					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTGGGAGGGCTCTATTCTGTG	0.473													A	108614387	T	A	108614387	3	1	232	1	0	0	0	0	1	0	0	0	14670	1551	54	5	556	5	SLC5A7	2	108614387	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	71014856	108614387	134584986	12	16026											
CNTNAP5	129684	broad.mit.edu	37	2	125530385	125530385	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:125530385A>G	uc010flu.3	+	16	2907	c.2543A>G	c.(2542-2544)gAg>gGg	p.E848G	CNTNAP5_uc002tno.3_Missense_Mutation_p.E847G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	847	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTCCTTCAGAGATCACCTTT	0.488													G	125530385	A	G	125530385	3	3	232	1	0	0	0	0	1	0	0	0	3650	304	11	4	2606	4	CNTNAP5	2	125530385	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	16915998	125530385	117668988	13	16027											
SCN7A	6332	broad.mit.edu	37	2	167273364	167273364	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:167273364G>A	uc002udu.2	-	19	3397	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1089					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CACTTGTTGGGTCAATGCATT	0.398													A	167273364	G	A	167273364	2	1	232	1	0	0	0	0	0	0	0	1	13923	1252	44	3		3	SCN7A	2	167273364	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	41742979	167273364	75926009	14	16028											
TTN	7273	broad.mit.edu	37	2	179453519	179453519	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:179453519T>C	uc021vsy.1	-	252	55454	c.55229A>G	c.(55228-55230)gAa>gGa	p.E18410G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12105G|TTN_uc021vta.1_Missense_Mutation_p.E12038G|TTN_uc021vtb.1_Missense_Mutation_p.E11913G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19337	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18410fs*15(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)			AGTCATCTCTTCTTTGCTTAC	0.438													C	179453519	T	C	179453519	3	2	232	1	0	0	0	0	1	0	0	0	16732	1783	62	4	45282	4	TTN	2	179453519	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	12180155	179453519	63745854	15	16029											
TTN	7273	broad.mit.edu	37	2	179522849	179522849	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:179522849T>A	uc021vsy.1	-						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Missense_Mutation_p.I675F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			GCCACGGGAATTTCTTTTTCT	0.413													A	179522849	T	A	179522849	3	1	232	1	0	0	0	0	1	0	0	0	16732	1508	52	5		5	TTN	2	179522849	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	69330	179522849	63676524	16	16030											
STAT1	6772	broad.mit.edu	37	2	191862990	191862990	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:191862990G>A	uc010fse.2	-	6	1018	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	STAT1_uc021vue.1_Intron|STAT1_uc002usj.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usk.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usl.2_Nonsense_Mutation_p.Q198*|STAT1_uc010fsf.1_Intron	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	196					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AGTAACAGCTGTTCTTGTTTC	0.343													A	191862990	G	A	191862990	4	1	232	1	0	0	0	0	0	1	0	0	15263	1386	48	3	1742	3	STAT1	2	191862990	Nonsense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	12340141	191862990	51336383	17	16031											
STAT4	6775	broad.mit.edu	37	2	191926501	191926501	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:191926501T>C	uc002usm.2	-	9	1303	c.988A>G	c.(988-990)Agg>Ggg	p.R330G	STAT4_uc002usn.2_Missense_Mutation_p.R330G|STAT4_uc010zgk.1_Missense_Mutation_p.R175G|STAT4_uc002uso.2_Missense_Mutation_p.R330G	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	330					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAACGGCCTCTGAGGGTGG	0.403													C	191926501	T	C	191926501	3	2	232	1	0	0	0	0	1	0	0	0	15266	1550	54	4	1318	4	STAT4	2	191926501	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	63511	191926501	51272872	18	16032											
SPHKAP	80309	broad.mit.edu	37	2	228883868	228883868	+	Missense_Mutation	SNP	C	C	T	rs149295795	by1000genomes	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:228883868C>T	uc002vpq.2	-	6	1749	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	SPHKAP_uc002vpp.2_Missense_Mutation_p.V568M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V568M	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	568						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGACAGCCACGGCACTGGCC	0.562													T	228883868	C	T	228883868	3	4	232	1	0	0	0	0	1	0	0	0	15047	536	19	1	3424	1	SPHKAP	2	228883868	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	36957367	228883868	14315505	19	16033											
C3orf45	132228	broad.mit.edu	37	3	50324238	50324238	+	Silent	SNP	C	C	T	rs116862338	by1000genomes	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:50324238C>T	uc003cyz.3	+	2	333	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_153215	NP_694947	Q8N112	CC045_HUMAN	Homo sapiens chromosome 3 open reading frame 45 (C3orf45), mRNA.	102						integral to membrane				endometrium(2)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCTGCTGCTCGCGCTGCTGG	0.617													T	50324238	C	T	50324238	2	4	232	1	0	0	0	0	0	0	0	1	2231	871	31	2		2	C3orf45	3	50324238	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08		50324238	147698192	20	16034											
STAB1	23166	broad.mit.edu	37	3	52540843	52540843	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:52540843G>A	uc003dej.3	+	17	2040	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	STAB1_uc003dei.1_Missense_Mutation_p.E656K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	656					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCACTGCAGCGAGGAGCAGCA	0.642													A	52540843	G	A	52540843	3	1	232	1	0	0	0	0	1	0	0	0	15236	1059	37	2	2036	2	STAB1	3	52540843	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2216605	52540843	145481587	21	16035											
C3orf67	200844	broad.mit.edu	37	3	58856003	58856003	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:58856003G>A	uc003dkt.1	-	7	782	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	C3orf67_uc003dks.1_5'Flank|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.R33W	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	125										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTACTGTTCCGTGTAATACTT	0.378													A	58856003	G	A	58856003	3	1	232	1	0	0	0	0	1	0	0	0	2241	1144	40	1	1354	1	C3orf67	3	58856003	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	6315160	58856003	139166427	22	16036											
TBC1D23	55773	broad.mit.edu	37	3	100002647	100002648	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:100002647_100002648insA	uc003dtt.3	+	3	645_646	c.468_469insA	c.(466-471)tacattfs	p.Y156fs	TBC1D23_uc003dts.3_Frame_Shift_Ins_p.Y156fs	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN	Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.	156	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGAATAAGTACATTCCCAGGTA	0.381													A	100002648	-	A	100002647	7	5	232	1	0	1	1	0	0	0	0	0	15610	489	17	0	482	0	TBC1D23	3	100002647	Frame_Shift_Ins	INS	-	TCGA-32-2632-01A-01D-1495-08	41146644	100002647	98019783	23	16037											
KIAA1524	57650	broad.mit.edu	37	3	108279495	108279495	+	Splice_Site	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:108279495C>T	uc003dxb.4	-	14	2096	c.1827_splice	c.e14+1	p.V609_splice		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	609						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTCACTCACCACCATTCCA	0.328													T	108279495	C	T	108279495	5	4	232	1	0	0	0	0	0	0	1	0	8239	521	18	3	921	3	KIAA1524	3	108279495	Splice_Site	SNP	C	TCGA-32-2632-01A-01D-1495-08	8276848	108279495	89742935	24	16038											
COL6A5	256076	broad.mit.edu	37	3	130174429	130174429	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:130174429A>T	uc010htj.1	+	36	7203	c.6709A>T	c.(6709-6711)Agc>Tgc	p.S2237C	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.S276C|COL6A5_uc010htk.1_Missense_Mutation_p.S276C	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2237	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTACCTTCCAAGCCAAATGTT	0.358													T	130174429	A	T	130174429	3	4	232	1	0	0	0	0	1	0	0	0	3702	72	3	5	6851	5	COL6A5	3	130174429	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	21894934	130174429	67848001	25	16039											
PRR23C	389152	broad.mit.edu	37	3	138762829	138762829	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:138762829G>A	uc011bmt.1	-	0	906	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	212	Pro-rich.									breast(2)|lung(7)|skin(2)	11						AAGATGGGGCGTGGAGAGCGT	0.647													A	138762829	G	A	138762829	3	1	232	1	0	0	0	0	1	0	0	0	12596	1145	40	1	158	1	PRR23C	3	138762829	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	8588400	138762829	59259601	26	16040											
LEKR1	389170	broad.mit.edu	37	3	156763371	156763371	+	Silent	SNP	C	C	T	rs144318565		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:156763371C>T	uc021xgh.1	+	12	2025	c.1911C>T	c.(1909-1911)cgC>cgT	p.R637R	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCAACCTGCGCGGGGTGTCAA	0.552													T	156763371	C	T	156763371	2	4	232	1	0	0	0	0	0	0	0	1	8717	755	27	1		1	LEKR1	3	156763371	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	18000542	156763371	41259059	27	16041											
GPR78	27201	broad.mit.edu	37	4	8588808	8588808	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:8588808C>T	uc003glk.3	+	2	1303	c.810C>T	c.(808-810)acC>acT	p.T270T	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	270					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTCGTCACCGTGAACGCCC	0.662													T	8588808	C	T	8588808	2	4	232	1	0	0	0	0	0	0	0	1	6710	639	23	2		2	GPR78	4	8588808	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08		8588808	182565468	28	16042											
CENPE	1062	broad.mit.edu	37	4	104044141	104044141	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:104044141T>C	uc003hxb.1	-	42	7120	c.7030A>G	c.(7030-7032)Aaa>Gaa	p.K2344E	CENPE_uc003hxc.1_Missense_Mutation_p.K2223E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2344	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGTAGTTTTTAAATAGTTTT	0.378													C	104044141	T	C	104044141	3	2	232	1	0	0	0	0	1	0	0	0	3230	1763	61	4	1103	4	CENPE	4	104044141	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	95455333	104044141	87110135	29	16043											
ING2	3622	broad.mit.edu	37	4	184431464	184431464	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:184431464G>A	uc003ivs.1	+	1	331	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	ING2_uc011ckk.1_Missense_Mutation_p.E28K	NM_001564	NP_001555	Q9H160	ING2_HUMAN	Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA.	68					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	p.E68K(2)|p.Y67C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGTCTACGAAAAATATAA	0.318													A	184431464	G	A	184431464	3	1	232	1	0	0	0	0	1	0	0	0	7736	1059	37	2	208	2	ING2	4	184431464	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	80387323	184431464	6722812	30	16044											
SLC6A18	348932	broad.mit.edu	37	5	1244741	1244741	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:1244741G>A	uc003jby.2	+	10	1638	c.1515G>A	c.(1513-1515)gcG>gcA	p.A505A		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	505					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATGACATTGCGTGGATGACCG	0.612													A	1244741	G	A	1244741	2	1	232	1	0	0	0	0	0	0	0	1	14681	1132	40	1		1	SLC6A18	5	1244741	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08		1244741	179670519	31	16045											
BASP1	10409	broad.mit.edu	37	5	17275800	17275800	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:17275800G>A	uc003jfx.3	+	1	654	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	BASP1_uc021xws.1_Missense_Mutation_p.A159T	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	159					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			endometrium(1)|lung(8)	9						AGCTCCTGCCGCCCAGGAGAC	0.711													A	17275800	G	A	17275800	3	1	232	1	0	0	0	0	1	0	0	0	1317	1087	38	1	477	1	BASP1	5	17275800	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	16031059	17275800	163639460	32	16046											
DDX4	54514	broad.mit.edu	37	5	55083676	55083676	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:55083676G>A	uc003jqg.4	+	14	1119	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DDX4_uc010ivz.3_Silent_p.A320A|DDX4_uc003jqh.4_Silent_p.A306A|DDX4_uc003jqj.3_Silent_p.A191A	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	340	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTCTAGGCGGCTTTTCTCC	0.383													A	55083676	G	A	55083676	2	1	232	1	0	0	0	0	0	0	0	1	4360	1103	39	2		2	DDX4	5	55083676	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	37807876	55083676	125831584	33	16047											
DMGDH	29958	broad.mit.edu	37	5	78340364	78340364	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:78340364G>A	uc003kfs.3	-	5	763	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	DMGDH_uc011cte.1_Missense_Mutation_p.R103C|DMGDH_uc011ctf.1_Missense_Mutation_p.R52C|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	253					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCTACTTCACGAGCCCAAAAT	0.318													A	78340364	G	A	78340364	3	1	232	1	0	0	0	0	1	0	0	0	4581	1058	37	2	1887	2	DMGDH	5	78340364	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	23256688	78340364	102574896	34	16048											
FAM81B	153643	broad.mit.edu	37	5	94749817	94749817	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:94749817T>A	uc003kla.1	+	3	506	c.460T>A	c.(460-462)Tcg>Acg	p.S154T	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	154								p.S154L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAAAGAGGAATCGCTCGCCAG	0.478													A	94749817	T	A	94749817	3	1	232	1	0	0	0	0	1	0	0	0	5629	1435	50	5	474	5	FAM81B	5	94749817	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	16409453	94749817	86165443	35	16049											
RAPGEF6	51735	broad.mit.edu	37	5	130940379	130940379	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:130940379T>A	uc003kvn.2	-	1	283	c.77A>T	c.(76-78)aAt>aTt	p.N26I	RAPGEF6_uc003kvp.2_Missense_Mutation_p.N76I|RAPGEF6_uc003kvo.2_Missense_Mutation_p.N26I|RAPGEF6_uc010jdi.2_Missense_Mutation_p.N26I|RAPGEF6_uc010jdj.2_Missense_Mutation_p.N26I|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.N26I|RAPGEF6_uc010jdk.3_Missense_Mutation_p.N26I	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	26					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAAATAGTATTTAAGTCCTG	0.318													A	130940379	T	A	130940379	3	1	232	1	0	0	0	0	1	0	0	0	13048	1493	52	5	5322	5	RAPGEF6	5	130940379	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	36190562	130940379	49974881	36	16050											
FBXO38	81545	broad.mit.edu	37	5	147796556	147796556	+	Splice_Site	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:147796556G>C	uc003lpf.1	+	12	1528	c.1408_splice	c.e12-1	p.G470_splice	FBXO38_uc003lpg.1_Splice_Site_p.G470_splice|FBXO38_uc003lph.2_Splice_Site_p.G470_splice	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	470						cytoplasm|nucleus			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)			TTTTGCCTTAGGGTTGTGCTC	0.368													C	147796556	G	C	147796556	5	2	232	1	0	0	0	0	0	0	1	0	5746	1014	35	5	1449	5	FBXO38	5	147796556	Splice_Site	SNP	G	TCGA-32-2632-01A-01D-1495-08	16856177	147796556	33118704	37	16051											
FBXO38	81545	broad.mit.edu	37	5	147796638	147796638	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:147796638G>C	uc003lpf.1	+	11	1609	c.1489G>C	c.(1489-1491)Gac>Cac	p.D497H	FBXO38_uc003lpg.1_Missense_Mutation_p.D497H|FBXO38_uc003lph.2_Missense_Mutation_p.D497H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	497						cytoplasm|nucleus			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)			CTCCAACAATGACGATAATAA	0.453													C	147796638	G	C	147796638	3	2	232	1	0	0	0	0	1	0	0	0	5746	1290	45	5	1531	5	FBXO38	5	147796638	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	82	147796638	33118622	38	16052											
NIPAL4	348938	broad.mit.edu	37	5	156890242	156890242	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:156890242C>G	uc003lwx.4	+	1	480	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.L122V|NIPAL4_uc010jin.1_Silent_p.A56A	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	122						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTACATCGGCCTGGGCCTGGC	0.577													G	156890242	C	G	156890242	3	3	232	1	0	0	0	0	1	0	0	0	10427	680	24	5	370	5	NIPAL4	5	156890242	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	9093604	156890242	24025018	39	16053											
GABRA1	2554	broad.mit.edu	37	5	161324318	161324318	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:161324318C>T	uc010jiw.3	+	10	1729	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	GABRA1_uc010jix.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jiy.3_Nonsense_Mutation_p.R421*|GABRA1_uc003lyx.4_Nonsense_Mutation_p.R421*|GABRA1_uc010jiz.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jja.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jjb.3_Nonsense_Mutation_p.R421*	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	421					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)	CAAAATTGACCGACTGTCAAG	0.443													T	161324318	C	T	161324318	4	4	232	1	0	0	0	0	0	1	0	0	6160	644	23	2	1295	2	GABRA1	5	161324318	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	4434076	161324318	19590942	40	16054											
MCHR2	84539	broad.mit.edu	37	6	100382322	100382322	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:100382322A>G	uc003pqh.1	-	4	974	c.659T>C	c.(658-660)aTt>aCt	p.I220T	MCHR2_uc003pqi.1_Missense_Mutation_p.I220T	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	220						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATAGCATAAAATTAAAATATA	0.328													G	100382322	A	G	100382322	3	3	232	1	0	0	0	0	1	0	0	0	9383	101	4	4	371	4	MCHR2	6	100382322	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08		100382322	70732745	41	16055											
MCHR2	84539	broad.mit.edu	37	6	100395726	100395726	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:100395726C>A	uc003pqh.1	-	2	619	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	MCHR2_uc003pqi.1_Missense_Mutation_p.G102W	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	102						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGGCCCCCCAAACACCCAC	0.488													A	100395726	C	A	100395726	3	1	232	1	0	0	0	0	1	0	0	0	9383	594	21	5	734	5	MCHR2	6	100395726	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	13404	100395726	70719341	42	16056											
HDAC2	3066	broad.mit.edu	37	6	114265495	114265495	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:114265495G>C	uc003pwd.2	-	10	1458	c.1171C>G	c.(1171-1173)Cat>Gat	p.H391D	HDAC2_uc003pwc.2_Missense_Mutation_p.H361D|HDAC2_uc003pwe.2_Missense_Mutation_p.H361D	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	391					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CTGTCTTCATGAACAGCATCT	0.363													C	114265495	G	C	114265495	3	2	232	1	0	0	0	0	1	0	0	0	7007	1290	45	5	311	5	HDAC2	6	114265495	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	13869769	114265495	56849572	43	16057											
MAP7	9053	broad.mit.edu	37	6	136682257	136682257	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:136682257C>T	uc011edg.2	-	11	1926	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	MAP7_uc011edf.2_Silent_p.E514E|MAP7_uc010kgu.3_Silent_p.E551E|MAP7_uc011edh.2_Silent_p.E514E|MAP7_uc010kgv.3_Silent_p.E551E|MAP7_uc010kgs.3_Silent_p.E383E|MAP7_uc011edi.2_Silent_p.E383E|MAP7_uc010kgq.2_Silent_p.E435E|MAP7_uc003qgz.3_Silent_p.E529E|MAP7_uc003qha.2_Silent_p.E492E	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	529					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGCGCGACTCCTCCTCACGGC	0.617													T	136682257	C	T	136682257	2	4	232	1	0	0	0	0	0	0	0	1	9266	680	24	3		3	MAP7	6	136682257	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	22416762	136682257	34432810	44	16058											
ABCB5	340273	broad.mit.edu	37	7	20744386	20744386	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:20744386G>A	uc010kuh.3	+	19	2614	c.2377G>A	c.(2377-2379)Ggc>Agc	p.G793S	ABCB5_uc003suw.4_Missense_Mutation_p.G348S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	348	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			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						CAGCACAGGAGGCTTGACAAC	0.328													A	20744386	G	A	20744386	3	1	232	1	0	0	0	0	1	0	0	0	44	1000	35	3	2492	3	ABCB5	7	20744386	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		20744386	138394277	45	16059											
CHN2	1124	broad.mit.edu	37	7	29539600	29539600	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:29539600A>C	uc003szz.3	+	8	1294	c.857A>C	c.(856-858)cAc>cCc	p.H286P	CHN2_uc011jzs.2_Missense_Mutation_p.H361P|CHN2_uc010kva.3_Missense_Mutation_p.H56P|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Missense_Mutation_p.H251P|CHN2_uc011jzt.2_Missense_Mutation_p.H299P|CHN2_uc010kvd.3_Missense_Mutation_p.H142P|CHN2_uc011jzu.2_Missense_Mutation_p.H271P|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Missense_Mutation_p.H150P|CHN2_uc010kve.3_Missense_Mutation_p.H150P|CHN2_uc003taa.3_Missense_Mutation_p.H150P|CHN2_uc010kvf.3_Intron|CHN2_uc010kvg.3_Missense_Mutation_p.H150P|CHN2_uc010kvj.3_Missense_Mutation_p.H105P|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Missense_Mutation_p.H105P|CHN2_uc011jzv.2_Missense_Mutation_p.H79P	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	286	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GTGAAGGCTCACAACACTCAG	0.413													C	29539600	A	C	29539600	3	2	232	1	0	0	0	0	1	0	0	0	3363	159	6	5	1059	5	CHN2	7	29539600	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	8795214	29539600	129599063	46	16060											
CCDC129	223075	broad.mit.edu	37	7	31682400	31682400	+	Silent	SNP	G	G	A	rs146986060		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:31682400G>A	uc011kae.2	+	10	1506	c.1494G>A	c.(1492-1494)tcG>tcA	p.S498S	CCDC129_uc011kad.1_Silent_p.S482S|CCDC129_uc003tcj.1_Silent_p.S472S|CCDC129_uc003tci.1_Silent_p.S323S|CCDC129_uc003tck.1_Silent_p.S380S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	472										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGCTAGAGTCGGATGGGCCAG	0.502													A	31682400	G	A	31682400	2	1	232	1	0	0	0	0	0	0	0	1	2764	1103	39	2		2	CCDC129	7	31682400	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	2142800	31682400	127456263	47	16061											
EGFR	1956	broad.mit.edu	37	7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:55210075T>G	uc003tqk.3	+	1	431	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_uc003tqh.3_Missense_Mutation_p.L62R|EGFR_uc003tqi.3_Missense_Mutation_p.L62R|EGFR_uc003tqj.3_Missense_Mutation_p.L62R|EGFR_uc022adm.1_Missense_Mutation_p.L62R|EGFR_uc010kzg.2_Missense_Mutation_p.L62R|EGFR_uc022adn.1_Missense_Mutation_p.L62R|EGFR_uc011kco.2_Missense_Mutation_p.L9R	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.L62R(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55210075	T	G	55210075	3	3	232	1	0	0	0	0	1	0	0	0	4967	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	23527675	55210075	103928588	48	16062											
CALN1	83698	broad.mit.edu	37	7	71275350	71275350	+	Missense_Mutation	SNP	G	G	A	rs143545775		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:71275350G>A	uc003twb.4	-	5	1020	c.629C>T	c.(628-630)tCg>tTg	p.S210L	CALN1_uc003twa.4_Missense_Mutation_p.S168L|CALN1_uc003twc.4_Missense_Mutation_p.S168L	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	168						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.S168L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCAGTTCCCCGAGGTCTCATT	0.507													A	71275350	G	A	71275350	3	1	232	1	0	0	0	0	1	0	0	0	2591	1059	37	2	164	2	CALN1	7	71275350	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	16065275	71275350	87863313	49	16063											
PIK3CG	5294	broad.mit.edu	37	7	106508826	106508826	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:106508826G>A	uc003vdv.4	+	1	905	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	PIK3CG_uc003vdu.3_Missense_Mutation_p.V274I|PIK3CG_uc003vdw.3_Missense_Mutation_p.V274I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	274					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.V274I(2)		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						TGTGCTGCGCGTCTGTGGCCG	0.542													A	106508826	G	A	106508826	3	1	232	1	0	0	0	0	1	0	0	0	11916	1145	40	1	822	1	PIK3CG	7	106508826	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	35233476	106508826	52629837	50	16064											
PIK3CG	5294	broad.mit.edu	37	7	106509352	106509352	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:106509352C>T	uc003vdv.4	+	1	1431	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PIK3CG_uc003vdu.3_Missense_Mutation_p.S449F|PIK3CG_uc003vdw.3_Missense_Mutation_p.S449F	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	449					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			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						TCTGCAGAGTCCCCCAGTTCT	0.517													T	106509352	C	T	106509352	3	4	232	1	0	0	0	0	1	0	0	0	11916	855	30	3	1348	3	PIK3CG	7	106509352	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	526	106509352	52629311	51	16065											
GCC1	79571	broad.mit.edu	37	7	127222169	127222169	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:127222169G>C	uc003vma.3	-	1	2645	c.2227C>G	c.(2227-2229)Ctc>Gtc	p.L743V		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	743	GRIP.					Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATGGCTGTGAGAGTCTGCTGG	0.542													C	127222169	G	C	127222169	3	2	232	1	0	0	0	0	1	0	0	0	6285	942	33	5	104	5	GCC1	7	127222169	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	20712817	127222169	31916494	52	16066											
MGAM	8972	broad.mit.edu	37	7	141736628	141736628	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:141736628G>T	uc003vwy.3	+	17	2136	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	694	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCAGGACCAGGATCCTGCCT	0.483													T	141736628	G	T	141736628	3	4	232	1	0	0	0	0	1	0	0	0	9541	991	35	5	2148	5	MGAM	7	141736628	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	14514459	141736628	17402035	53	16067											
CNTNAP2	26047	broad.mit.edu	37	7	146825878	146825878	+	Missense_Mutation	SNP	G	G	A	rs145832489		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:146825878G>A	uc003weu.2	+	6	1549	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	345	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.V345I(2)|p.G344G(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTACAATGGCGTCAACATTAC	0.413										HNSCC(39;0.1)			A	146825878	G	A	146825878	3	1	232	1	0	0	0	0	1	0	0	0	3647	1145	40	1	1059	1	CNTNAP2	7	146825878	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5089250	146825878	12312785	54	16068											
SSPO	23145	broad.mit.edu	37	7	149517991	149517991	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:149517991G>A	uc010lpk.3	+	86	12325	c.12325G>A	c.(12325-12327)Gtg>Atg	p.V4109M	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4112					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGTGGCTGCGTGCCAATTGG	0.667													A	149517991	G	A	149517991	3	1	232	1	0	0	0	0	1	0	0	0	15188	1145	40	1	12674	1	SSPO	7	149517991	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2692113	149517991	9620672	55	16069											
DOCK5	80005	broad.mit.edu	37	8	25159899	25159899	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25159899G>A	uc003xeg.3	+	9	1042	c.905G>A	c.(904-906)cGc>cAc	p.R302H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R16H|DOCK5_uc003xef.3_Missense_Mutation_p.R302H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	302						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGATTGTCCGCGTGGGCCAT	0.572													A	25159899	G	A	25159899	3	1	232	1	0	0	0	0	1	0	0	0	4690	1087	38	1	943	1	DOCK5	8	25159899	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		25159899	121204123	56	16070											
DOCK5	80005	broad.mit.edu	37	8	25189802	25189802	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25189802T>A	uc003xeg.3	+	18	2076	c.1939T>A	c.(1939-1941)Tcc>Acc	p.S647T	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.S361T|DOCK5_uc003xei.3_Missense_Mutation_p.S217T|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	647	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCGTTCCAACTCCCAGAACAT	0.378													A	25189802	T	A	25189802	3	1	232	1	0	0	0	0	1	0	0	0	4690	1551	54	5	2013	5	DOCK5	8	25189802	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	29903	25189802	121174220	57	16071											
DOCK5	80005	broad.mit.edu	37	8	25265580	25265580	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25265580C>T	uc003xeg.3	+	48	5312	c.5175C>T	c.(5173-5175)agC>agT	p.S1725S	DOCK5_uc003xek.3_Intron|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1725						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAGAACAGCGAGAACCGGA	0.498													T	25265580	C	T	25265580	2	4	232	1	0	0	0	0	0	0	0	1	4690	767	27	1		1	DOCK5	8	25265580	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	75778	25265580	121098442	58	16072											
PTK2B	2185	broad.mit.edu	37	8	27308400	27308400	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:27308400G>A	uc003xfn.2	+	29	3283	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	PTK2B_uc022ate.1_Silent_p.E825E|PTK2B_uc003xfp.2_Silent_p.E825E|PTK2B_uc003xfq.2_Silent_p.E783E|PTK2B_uc003xfs.1_Silent_p.E22E	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	825	Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCAGGCAGGAGGAGAAGTCCC	0.607													A	27308400	G	A	27308400	2	1	232	1	0	0	0	0	0	0	0	1	12763	991	35	3		3	PTK2B	8	27308400	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	2042820	27308400	119055622	59	16073											
ADAM32	203102	broad.mit.edu	37	8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:39111964C>T	uc003xmt.4	+	17	2179	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_uc011lch.2_Missense_Mutation_p.S546L|ADAM32_uc003xmu.4_Missense_Mutation_p.S539L|ADAM32_uc003xmv.3_Missense_Mutation_p.S69L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	645	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGCCATTGTTCGCCAGGCTAT	0.363													T	39111964	C	T	39111964	3	4	232	1	0	0	0	0	1	0	0	0	249	893	31	2	2004	2	ADAM32	8	39111964	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	11803564	39111964	107252058	60	16074											
JPH1	56704	broad.mit.edu	37	8	75227467	75227467	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:75227467C>T	uc003yae.3	-	1	808	c.768G>A	c.(766-768)acG>acA	p.T256T	JPH1_uc003yaf.3_Silent_p.T256T|JPH1_uc003yag.1_Silent_p.T120T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	256	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CAAAGCTGATCGTGGAGTTGG	0.557													T	75227467	C	T	75227467	2	4	232	1	0	0	0	0	0	0	0	1	7960	871	31	2		2	JPH1	8	75227467	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	36115503	75227467	71136555	61	16075											
CNTNAP3	79937	broad.mit.edu	37	9	39176040	39176040	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:39176040C>T	uc004abi.3	-	6	1216	c.977G>A	c.(976-978)cGt>cAt	p.R326H	CNTNAP3_uc004abj.3_Missense_Mutation_p.R326H|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.R326H|CNTNAP3_uc011lqs.1_Missense_Mutation_p.R326H	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	326	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAAGCTTTTACGTCTGAATGC	0.388													T	39176040	C	T	39176040	3	4	232	1	0	0	0	0	1	0	0	0	3648	536	19	1	2961	1	CNTNAP3	9	39176040	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08		39176040	102037391	62	16076											
FOXD4L5	653427	broad.mit.edu	37	9	70177155	70177155	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:70177155C>T	uc010moc.3	-	0	1661	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	277					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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			endometrium(5)|lung(2)	7						CCGGCATAGACGGGGGCCGAG	0.687													T	70177155	C	T	70177155	3	4	232	1	0	0	0	0	1	0	0	0	6002	536	19	1	425	1	FOXD4L5	9	70177155	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	31001115	70177155	71036276	63	16077											
PAPPA	5069	broad.mit.edu	37	9	118949533	118949533	+	Missense_Mutation	SNP	C	C	G	rs141909455		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:118949533C>G	uc004bjn.3	+	1	897	c.516C>G	c.(514-516)ttC>ttG	p.F172L	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	172					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTACTTTTTCTCCTTGAAGA	0.537													G	118949533	C	G	118949533	3	3	232	1	0	0	0	0	1	0	0	0	11432	912	32	5	522	5	PAPPA	9	118949533	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	48772378	118949533	22263898	64	16078											
NUP214	8021	broad.mit.edu	37	9	134016058	134016058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:134016058C>T	uc004cag.3	+	10	1366	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	NUP214_uc004cah.3_Nonsense_Mutation_p.R419*|NUP214_uc004caf.1_Nonsense_Mutation_p.R419*	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	419					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AACACCAGAGCGACTTTCATT	0.433			T	"DEK, SET, ABL1"	"AML, T-ALL"								T	134016058	C	T	134016058	4	4	232	1	0	0	0	0	0	1	0	0	10762	760	27	1	1297	1	NUP214	9	134016058	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	15066525	134016058	7197373	65	16079											
ANO9	338440	broad.mit.edu	37	11	433453	433453	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:433453G>A	uc001lpi.2	-	3	296	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	71						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TTCTGGTCCCGGATCACCTGG	0.612													A	433453	G	A	433453	3	1	232	1	0	0	0	0	1	0	0	0	704	1115	39	2	2217	2	ANO9	11	433453	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		433453	134573063	66	16080											
TTC17	55761	broad.mit.edu	37	11	43464880	43464880	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:43464880G>A	uc001mxi.3	+	16	2327	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	TTC17_uc001mxh.3_Missense_Mutation_p.V810M|TTC17_uc010rfj.2_Missense_Mutation_p.V753M|TTC17_uc001mxj.3_Missense_Mutation_p.V580M	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	753							binding	p.T752T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCAGGTACGGTGGTTGAGGA	0.443													A	43464880	G	A	43464880	3	1	232	1	0	0	0	0	1	0	0	0	16681	1261	44	3	2323	3	TTC17	11	43464880	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	43031427	43464880	91541636	67	16081											
OR4X1	390113	broad.mit.edu	37	11	48285739	48285739	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:48285739G>A	uc010rht.2	+	0	327	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTGGCACTGAGGCCTTTCTCC	0.507													A	48285739	G	A	48285739	2	1	232	1	0	0	0	0	0	0	0	1	11084	991	35	3		3	OR4X1	11	48285739	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	4820859	48285739	86720777	68	16082											
ACY3	91703	broad.mit.edu	37	11	67413173	67413173	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:67413173C>T	uc001omq.3	-	3	593	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	141					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CTGCAGATGGCGGCACAGGTG	0.617													T	67413173	C	T	67413173	3	4	232	1	0	0	0	0	1	0	0	0	227	768	27	1	557	1	ACY3	11	67413173	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	19127434	67413173	67593343	69	16083											
RELT	84957	broad.mit.edu	37	11	73102204	73102204	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:73102204G>C	uc001otv.3	+	4	468	c.303G>C	c.(301-303)tgG>tgC	p.W101C	RELT_uc001otw.3_Missense_Mutation_p.W101C|RELT_uc009yto.1_Missense_Mutation_p.W19C|RELT_uc001otx.3_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	101						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TTGGGCCTTGGGGGGTTCCCC	0.587													C	73102204	G	C	73102204	3	2	232	1	0	0	0	0	1	0	0	0	13221	1241	43	5	317	5	RELT	11	73102204	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5689031	73102204	61904312	70	16084											
OR6M1	390261	broad.mit.edu	37	11	123676770	123676770	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:123676770C>T	uc010rzz.2	-	0	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		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;0.028)		ATGTTTGGATCATGCAACCAG	0.458													T	123676770	C	T	123676770	3	4	232	1	0	0	0	0	1	0	0	0	11205	826	29	3	656	3	OR6M1	11	123676770	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	50574566	123676770	11329746	71	16085											
CNTN1	1272	broad.mit.edu	37	12	41333137	41333137	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:41333137C>T	uc001rmm.1	+	12	1342	c.1229_splice	c.e12-1	p.A410_splice	CNTN1_uc009zjy.2_Splice_Site_p.A410_splice|CNTN1_uc001rmn.1_Splice_Site_p.A399_splice|CNTN1_uc001rmo.3_Splice_Site_p.A410_splice	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	410					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCTTTTTAGCGTTGGCTCCA	0.348													T	41333137	C	T	41333137	3	4	232	1	0	0	0	0	1	0	0	0	3640	782	27	1	1271	1	CNTN1	12	41333137	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08		41333137	92518758	72	16086											
TRHDE	29953	broad.mit.edu	37	12	72771778	72771778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:72771778C>T	uc001sxa.3	+	2	1087	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	353					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R353*(2)|p.R353Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						taattaGGTACGATTATATGC	0.308													T	72771778	C	T	72771778	4	4	232	1	0	0	0	0	0	1	0	0	16476	528	19	1	1067	1	TRHDE	12	72771778	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	31438641	72771778	61080117	73	16087											
TBX5	6910	broad.mit.edu	37	12	114793581	114793581	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:114793581C>T	uc001tvo.3	-	8	1808	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	TBX5_uc001tvp.3_Missense_Mutation_p.R438Q|TBX5_uc001tvq.3_Missense_Mutation_p.R388Q	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	438				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCAGCCAGCCGAGGGACCAG	0.657													T	114793581	C	T	114793581	3	4	232	1	0	0	0	0	1	0	0	0	15658	652	23	2	247	2	TBX5	12	114793581	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	42021803	114793581	19058314	74	16088											
FAM48A	55578	broad.mit.edu	37	13	37583874	37583876	+	In_Frame_Del	DEL	GAT	GAT	-	rs149036783		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:37583874_37583876delGAT	uc001uwk.3	-	24	2654_2656	c.2406_2408delATC	c.(2404-2409)tcatcg>tcg	p.802_803SS>S	FAM48A_uc010abt.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwg.3_In_Frame_Del_p.H758del|FAM48A_uc001uwh.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwi.3_In_Frame_Del_p.723_724SS>S|FAM48A_uc001uwj.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwd.3_In_Frame_Del_p.210_211SS>S|FAM48A_uc001uwe.3_In_Frame_Del_p.H242del|FAM48A_uc001uwf.3_In_Frame_Del_p.H324del	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	723					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CCTGTATGCCGATGATGATGTAG	0.424													-	37583876	GAT	-	37583874	7	5	232	1	0	1	0	1	0	0	0	0	5572	1059	37	0	68	0	FAM48A	13	37583874	In_Frame_Del	DEL	GAT	TCGA-32-2632-01A-01D-1495-08		37583874	77586004	75	16089											
RB1	5925	broad.mit.edu	37	13	48941711	48941711	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:48941711delA	uc001vcb.3	+	9	1187	c.1021delA	c.(1021-1023)aaafs	p.K341fs	RB1_uc010act.1_Frame_Shift_Del_p.K42fs	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	341					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)|p.D340fs*5(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGATCATGATAAAACTCTTCA	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48941711	A	-	48941711	7	5	232	1	0	1	0	1	0	0	0	0	13098	363	13	0	1059	0	RB1	13	48941711	Frame_Shift_Del	DEL	A	TCGA-32-2632-01A-01D-1495-08	11357837	48941711	66228167	76	16090											
CLYBL	171425	broad.mit.edu	37	13	100425234	100425234	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:100425234C>G	uc001vok.3	+	1	250	c.219C>G	c.(217-219)gaC>gaG	p.D73E	CLYBL_uc010tix.2_Missense_Mutation_p.D73E|CLYBL_uc010tiy.2_Missense_Mutation_p.D73E	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	73					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGTGCTCGACTGTGAGGATG	0.398													G	100425234	C	G	100425234	3	3	232	1	0	0	0	0	1	0	0	0	3573	564	20	5	225	5	CLYBL	13	100425234	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	51483523	100425234	14744644	77	16091											
ATP11A	23250	broad.mit.edu	37	13	113485796	113485796	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:113485796C>T	uc001vsj.4	+	12	1417	c.1329C>T	c.(1327-1329)aaC>aaT	p.N443N	ATP11A_uc001vsi.4_Silent_p.N443N|ATP11A_uc001vsm.1_Silent_p.N319N	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	443					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCATCTGCAACGGGCAGGTCC	0.587													T	113485796	C	T	113485796	2	4	232	1	0	0	0	0	0	0	0	1	1119	535	19	1		1	ATP11A	13	113485796	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	13060562	113485796	1684082	78	16092											
MYH7	4625	broad.mit.edu	37	14	23883029	23883029	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:23883029G>A	uc001wjx.3	-	38	5835	c.5729C>T	c.(5728-5730)gCg>gTg	p.A1910V		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1910					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			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)		GGCGATGTCCGCCCGCTCCTC	0.622													A	23883029	G	A	23883029	3	1	232	1	0	0	0	0	1	0	0	0	10039	1087	38	1	86	1	MYH7	14	23883029	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		23883029	83466511	79	16093											
MYH7	4625	broad.mit.edu	37	14	23902877	23902877	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:23902877T>C	uc001wjx.3	-	2	171	c.65A>G	c.(64-66)gAg>gGg	p.E22G		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	22	Myosin head-like.				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			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)		TTCTAGCCGCTCCTTCTCTGA	0.577													C	23902877	T	C	23902877	3	2	232	1	0	0	0	0	1	0	0	0	10039	1551	54	4	5894	4	MYH7	14	23902877	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	19848	23902877	83446663	80	16094											
LTBP2	4053	broad.mit.edu	37	14	74992813	74992813	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:74992813G>A	uc001xqa.3	-	13	2780	c.2393C>T	c.(2392-2394)aCg>aTg	p.T798M		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	798					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACACTGGTCGTGACCTGCAC	0.577													A	74992813	G	A	74992813	3	1	232	1	0	0	0	0	1	0	0	0	9074	1145	40	1	3164	1	LTBP2	14	74992813	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	51089936	74992813	32356727	81	16095											
NRXN3	9369	broad.mit.edu	37	14	79181464	79181464	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:79181464G>C	uc001xun.3	+	4	1398	c.907G>C	c.(907-909)Gga>Cga	p.G303R	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G437R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGATACTGGGGAAGAACCTG	0.587													C	79181464	G	C	79181464	3	2	232	1	0	0	0	0	1	0	0	0	10667	1233	43	5	917	5	NRXN3	14	79181464	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	4188651	79181464	28168076	82	16096											
TDRD9	122402	broad.mit.edu	37	14	104481128	104481128	+	Nonsense_Mutation	SNP	C	C	T	rs143367834		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:104481128C>T	uc001yom.4	+	20	2203	c.2173C>T	c.(2173-2175)Cga>Tga	p.R725*	TDRD9_uc001yon.4_Nonsense_Mutation_p.R463*	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	725					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGATTCTCGGCGACCTGTCAT	0.368													T	104481128	C	T	104481128	4	4	232	1	0	0	0	0	0	1	0	0	15733	760	27	1	2255	1	TDRD9	14	104481128	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	25299664	104481128	2868412	83	16097											
NDN	4692	broad.mit.edu	37	15	23931758	23931758	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:23931758G>A	uc001ywk.3	-	0	693	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	203	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGGCGCCGCGGCCCTTCACG	0.662									Prader-Willi syndrome				A	23931758	G	A	23931758	3	1	232	1	0	0	0	0	1	0	0	0	10247	1116	39	2	362	2	NDN	15	23931758	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		23931758	78599634	84	16098											
CSPG4	1464	broad.mit.edu	37	15	75980642	75980642	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:75980642G>T	uc002baw.3	-	2	2857	c.2764C>A	c.(2764-2766)Ctc>Atc	p.L922I		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	922	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (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			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TTGACAAAGAGGTGGTCAGCA	0.597													T	75980642	G	T	75980642	3	4	232	1	0	0	0	0	1	0	0	0	3960	1000	35	5	4236	5	CSPG4	15	75980642	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	52048884	75980642	26550750	85	16099											
SYNM	23336	broad.mit.edu	37	15	99669677	99669677	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:99669677G>A	uc002bup.3	+	4	1229	c.1109G>A	c.(1108-1110)aGc>aAc	p.S370N	SYNM_uc002buo.3_Missense_Mutation_p.S370N|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	371	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TTCAATCACAGCTCGGCACTG	0.463													A	99669677	G	A	99669677	3	1	232	1	0	0	0	0	1	0	0	0	15452	971	34	3	1125	3	SYNM	15	99669677	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	23689035	99669677	2861715	86	16100											
GRIN2A	2903	broad.mit.edu	37	16	9943739	9943739	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:9943739G>A	uc010uym.2	-	5	1512	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	GRIN2A_uc002czo.4_Missense_Mutation_p.P401L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P244L|GRIN2A_uc002czr.4_Missense_Mutation_p.P401L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	401					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P401Q(2)|p.P401P(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTGTCATCCGGCTCACAGTC	0.587													A	9943739	G	A	9943739	3	1	232	1	0	0	0	0	1	0	0	0	6779	1116	39	2	3228	2	GRIN2A	16	9943739	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		9943739	80411014	87	16101											
HYDIN	54768	broad.mit.edu	37	16	70866858	70866858	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:70866858C>T	uc002ezr.3	-	79	13940	c.13789G>A	c.(13789-13791)Gtg>Atg	p.V4597M	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4598										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTTTCCCACCTCGGTGGGA	0.493													T	70866858	C	T	70866858	3	4	232	1	0	0	0	0	1	0	0	0	7467	507	18	3	1601	3	HYDIN	16	70866858	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	60923119	70866858	19487895	88	16102											
PRDM7	11105	broad.mit.edu	37	16	90128375	90128375	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:90128375C>T	uc010cje.3	-	6	856	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PRDM7_uc002fqo.3_Missense_Mutation_p.R73Q|PRDM7_uc010cjf.3_Missense_Mutation_p.R162Q|PRDM7_uc010cjg.1_Missense_Mutation_p.R73Q|PRDM7_uc010cjh.1_Non-coding_Transcript	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	279	SET.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCTGTAATTCGGCCCTCATA	0.547													T	90128375	C	T	90128375	3	4	232	1	0	0	0	0	1	0	0	0	12461	884	31	2	658	2	PRDM7	16	90128375	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	19261517	90128375	226378	89	16103											
MYOCD	93649	broad.mit.edu	37	17	12626268	12626268	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:12626268G>A	uc002gno.2	+	4	657	c.358G>A	c.(358-360)Gag>Aag	p.E120K	MYOCD_uc002gnn.2_Missense_Mutation_p.E120K|MYOCD_uc002gnp.1_Missense_Mutation_p.E24K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	120					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGGCCACTGGAGCTGGTGGA	0.468													A	12626268	G	A	12626268	3	1	232	1	0	0	0	0	1	0	0	0	10087	1175	41	3	376	3	MYOCD	17	12626268	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		12626268	68568942	90	16104											
CCL14	6358	broad.mit.edu	37	17	34311432	34311432	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:34311432G>A	uc010wcr.1	-	1	215	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	CCL16_uc002hkl.3_5'Flank|CCL16_uc002hkm.3_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.R62C|CCL14_uc002hkn.2_Non-coding_Transcript|CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript|BC070118_uc002hkq.3_5'Flank	NM_032963	NP_116739	Q16627	CCL14_HUMAN	Homo sapiens chemokine (C-C motif) ligand 14 (CCL14), transcript variant 3, mRNA.	46					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.P45R(1)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCCGCTGACGCGGGATCTTG	0.552													A	34311432	G	A	34311432	3	1	232	1	0	0	0	0	1	0	0	0	2885	1087	38	1	153	1	CCL14	17	34311432	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	21685164	34311432	46883778	91	16105											
KRT38	8687	broad.mit.edu	37	17	39597030	39597030	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:39597030G>A	uc002hwq.1	-	0	567	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	48	Head.					intermediate filament	structural molecule activity			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)				CATGTGCCACGTTGGCCAAAA	0.632													A	39597030	G	A	39597030	2	1	232	1	0	0	0	0	0	0	0	1	8475	1136	40	1		1	KRT38	17	39597030	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	5285598	39597030	41598180	92	16106											
ABCA9	10350	broad.mit.edu	37	17	67041451	67041451	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:67041451C>T	uc002jhu.3	-	3	474	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ABCA9_uc010dez.3_Missense_Mutation_p.E111K|ABCA9_uc002jhv.3_Missense_Mutation_p.E111K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	111					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGCTTTTTTCATCAGGCCAC	0.383													T	67041451	C	T	67041451	3	4	232	1	0	0	0	0	1	0	0	0	39	835	29	3	4687	3	ABCA9	17	67041451	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	27444421	67041451	14153759	93	16107											
CABYR	26256	broad.mit.edu	37	18	21735681	21735681	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:21735681A>T	uc002kux.3	+	3	368	c.216A>T	c.(214-216)gaA>gaT	p.E72D	CABYR_uc021uig.1_Missense_Mutation_p.E54D|CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.3_Missense_Mutation_p.E72D|CABYR_uc002kuz.3_Missense_Mutation_p.E72D|CABYR_uc002kva.3_Missense_Mutation_p.E54D|CABYR_uc002kvb.3_5'UTR|CABYR_uc002kvc.3_Missense_Mutation_p.E72D|CABYR_uc010dlw.3_Non-coding_Transcript	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.	72					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AATGGTCAGAAGGAACGACAC	0.328													T	21735681	A	T	21735681	3	4	232	1	0	0	0	0	1	0	0	0	2536	69	3	5	226	5	CABYR	18	21735681	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08		21735681	56341567	94	16108											
MEP1B	4225	broad.mit.edu	37	18	29784271	29784271	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:29784271G>A	uc002kxj.4	+	6	542	c.495G>A	c.(493-495)tcG>tcA	p.S165S		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	165	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGAGCAGTCGCGTTCTGACC	0.458													A	29784271	G	A	29784271	2	1	232	1	0	0	0	0	0	0	0	1	9476	1074	38	1		1	MEP1B	18	29784271	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	8048590	29784271	48292977	95	16109											
TNFRSF11A	8792	broad.mit.edu	37	18	60017106	60017106	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:60017106G>A	uc002lin.3	+	2	257	c.219G>A	c.(217-219)ccG>ccA	p.P73P	TNFRSF11A_uc010dpv.3_Silent_p.P73P	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	73					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.P73P(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTGTGGCCCGGATGAATACT	0.423													A	60017106	G	A	60017106	2	1	232	1	0	0	0	0	0	0	0	1	16281	1103	39	2		2	TNFRSF11A	18	60017106	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	30232835	60017106	18060142	96	16110											
HMHA1	23526	broad.mit.edu	37	19	1080969	1080969	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:1080969C>T	uc002lqz.1	+	16	2327	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	HMHA1_uc010xgd.1_Missense_Mutation_p.A715V|HMHA1_uc010xge.1_Missense_Mutation_p.A567V|HMHA1_uc002lra.1_Missense_Mutation_p.A539V|HMHA1_uc002lrb.1_Missense_Mutation_p.A582V|HMHA1_uc002lrc.1_Missense_Mutation_p.A334V	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	699					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		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)		CTGTCCAAGGCGGCCCGTACT	0.682													T	1080969	C	T	1080969	3	4	232	1	0	0	0	0	1	0	0	0	7240	768	27	1	2162	1	HMHA1	19	1080969	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08		1080969	58048014	97	16111											
RDH8	50700	broad.mit.edu	37	19	10131987	10131987	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:10131987C>T	uc002mmr.3	+	4	842	c.593C>T	c.(592-594)gCg>gTg	p.A198V		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	198					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGCTTCTGGCGCAGGTTTCT	0.602													T	10131987	C	T	10131987	3	4	232	1	0	0	0	0	1	0	0	0	13196	768	27	1	611	1	RDH8	19	10131987	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	9051018	10131987	48996996	98	16112											
CYP4F22	126410	broad.mit.edu	37	19	15651449	15651449	+	Missense_Mutation	SNP	G	G	A	rs146265982		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:15651449G>A	uc002nbh.4	+	7	1027	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	287						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGGCACTGCGTCAGCAGGGG	0.632													A	15651449	G	A	15651449	3	1	232	1	0	0	0	0	1	0	0	0	4189	1145	40	1	882	1	CYP4F22	19	15651449	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5519462	15651449	43477534	99	16113											
GTPBP3	84705	broad.mit.edu	37	19	17452117	17452117	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:17452117G>A	uc002ngg.4	+	6	1430	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K	GTPBP3_uc010xpo.2_Silent_p.K435K|GTPBP3_uc010eas.3_Silent_p.K413K|GTPBP3_uc002ngh.4_Silent_p.K392K	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	413					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CGCTGAGGAAGGAGCTAGCTG	0.642													A	17452117	G	A	17452117	2	1	232	1	0	0	0	0	0	0	0	1	6881	991	35	3		3	GTPBP3	19	17452117	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	1800668	17452117	41676866	100	16114											
PGPEP1	54858	broad.mit.edu	37	19	18468321	18468321	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:18468321C>T	uc002nis.1	+	3	417	c.333C>T	c.(331-333)gaC>gaT	p.D111D	PGPEP1_uc002nir.1_Non-coding_Transcript|PGPEP1_uc002nit.1_Silent_p.D34D|PGPEP1_uc010xqg.1_Silent_p.D34D	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	Homo sapiens pyroglutamyl-peptidase I (PGPEP1), mRNA.	111							cysteine-type peptidase activity										GCGTGGAGGACGGGCCTGAAA	0.592													T	18468321	C	T	18468321	2	4	232	1	0	0	0	0	0	0	0	1	11803	535	19	1		1	PGPEP1	19	18468321	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	1016204	18468321	40660662	101	16115											
ZNF599	148103	broad.mit.edu	37	19	35250777	35250777	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:35250777G>T	uc010edn.1	-	3	1317	c.929C>A	c.(928-930)cCc>cAc	p.P310H	ZNF599_uc010edm.2_Missense_Mutation_p.P273H	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K309N(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GCATAAAAAGGGTTTTTCTCG	0.418													T	35250777	G	T	35250777	3	4	232	1	0	0	0	0	1	0	0	0	18026	1232	43	5	841	5	ZNF599	19	35250777	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	16782456	35250777	23878206	102	16116											
CCDC8	83987	broad.mit.edu	37	19	46914658	46914658	+	Silent	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:46914658C>T	uc002pep.3	-	0	2262	c.1410G>A	c.(1408-1410)agG>agA	p.R470R		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	470						plasma membrane				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)		GTTTCCGGGCCCTGGCTCCTG	0.612													T	46914658	C	T	46914658	2	4	232	1	0	0	0	0	0	0	0	1	2853	622	22	3		3	CCDC8	19	46914658	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	11663881	46914658	12214325	103	16117											
LILRB1	10859	broad.mit.edu	37	19	55147969	55147969	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:55147969C>A	uc002qgj.3	+	14	2012	c.1672C>A	c.(1672-1674)Cag>Aag	p.Q558K	LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.3_Missense_Mutation_p.Q559K|LILRB1_uc002qgk.3_Missense_Mutation_p.Q559K|LILRB1_uc002qgm.3_Missense_Mutation_p.Q560K|LILRB1_uc010erq.3_Missense_Mutation_p.Q542K|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	558					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			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)		TGAAGACCCCCAGGCAGTGAC	0.572										HNSCC(37;0.09)			A	55147969	C	A	55147969	3	1	232	1	0	0	0	0	1	0	0	0	8790	595	21	5	1728	5	LILRB1	19	55147969	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	8233311	55147969	3981014	104	16118											
NLRP7	199713	broad.mit.edu	37	19	55451000	55451000	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:55451000C>T	uc002qih.4	-	3	1263	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	NLRP7_uc010esk.3_Missense_Mutation_p.R396H|NLRP7_uc002qig.4_Missense_Mutation_p.R396H|NLRP7_uc002qii.4_Missense_Mutation_p.R396H|NLRP7_uc010esl.3_Missense_Mutation_p.R424H	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	396	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCAGAGGAAACGCAGGAACAG	0.706													T	55451000	C	T	55451000	3	4	232	1	0	0	0	0	1	0	0	0	10482	536	19	1	1958	1	NLRP7	19	55451000	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	303031	55451000	3677983	105	16119											
PHF20	51230	broad.mit.edu	37	20	34526877	34526877	+	Silent	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr20:34526877G>A	uc002xek.1	+	15	2670	c.2559G>A	c.(2557-2559)caG>caA	p.Q853Q		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCGTGGAGCAGAAGCTGGTGG	0.647													A	34526877	G	A	34526877	2	1	232	1	0	0	0	0	0	0	0	1	11831	933	33	3		3	PHF20	20	34526877	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08		34526877	28498643	106	16120											
SEMG2	6406	broad.mit.edu	37	20	43836560	43836560	+	Missense_Mutation	SNP	C	C	T	rs141417035	by1000genomes	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr20:43836560C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.R208C|SEMG2_uc002xnj.2_Missense_Mutation_p.R208C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CAAACAACAACGTGAGACTAA	0.403													T	43836560	C	T	43836560	3	4	232	1	0	0	0	0	1	0	0	0	14045	536	19	1		1	SEMG2	20	43836560	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	9309683	43836560	19188960	107	16121											
ADAMTS1	9510	broad.mit.edu	37	21	28217207	28217207	+	Silent	SNP	G	G	T			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr21:28217207G>T	uc002ymf.3	-	0	522	c.67C>A	c.(67-69)Cgg>Agg	p.R23R		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	23					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCCGGAGCCCGCTCCGCGTTC	0.711											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28217207	G	T	28217207	2	4	232	1	0	0	0	0	0	0	0	1	255	1086	38	5		5	ADAMTS1	21	28217207	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08		28217207	19912688	108	16122											
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr22:42071074G>A	uc003bav.3	-	2	363	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_uc003bat.3_Missense_Mutation_p.R84C	NM_001003796	NP_004999	P55769	NH2L1_HUMAN	Homo sapiens NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) (NHP2L1), transcript variant 2, mRNA.	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577													A	42071074	G	A	42071074	3	1	232	1	0	0	0	0	1	0	0	0	10410	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		42071074	9233492	109	16123											
EFCAB6	64800	broad.mit.edu	37	22	43933388	43933388	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr22:43933388G>A	uc003bdy.2	-	28	4231	c.3917C>T	c.(3916-3918)cCc>cTc	p.P1306L	EFCAB6_uc003bdz.2_Missense_Mutation_p.P1154L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P1154L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1306	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTTCTGCAAGGGTGGAGTGCC	0.517													A	43933388	G	A	43933388	3	1	232	1	0	0	0	0	1	0	0	0	4939	1232	43	3	604	3	EFCAB6	22	43933388	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	1862314	43933388	7371178	110	16124											
DMD	1756	broad.mit.edu	37	X	32486813	32486813	+	Silent	SNP	A	A	G			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:32486813A>G	uc004dda.1	-	22	3208	c.2964T>C	c.(2962-2964)tcT>tcC	p.S988S	DMD_uc004dcz.2_Silent_p.S865S|DMD_uc004dcy.1_Silent_p.S984S|DMD_uc004ddb.1_Silent_p.S980S|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	988					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			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)				GCTCTTGCAGAGAACTTTGTA	0.333													G	32486813	A	G	32486813	2	3	232	1	0	0	0	0	0	0	0	1	4580	291	11	4		4	DMD	23	32486813	Silent	SNP	A	TCGA-32-2632-01A-01D-1495-08		32486813	122783747	111	16125											
RPGR	6103	broad.mit.edu	37	X	38182768	38182768	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:38182768G>A	uc004ded.1	-	1	206	c.38C>T	c.(37-39)gCt>gTt	p.A13V	RPGR_uc004deb.3_Missense_Mutation_p.A13V|RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	13					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGTAAACACAGCACCCGAATC	0.318													A	38182768	G	A	38182768	3	1	232	1	0	0	0	0	1	0	0	0	13548	971	34	3	4035	3	RPGR	23	38182768	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5695955	38182768	117087792	112	16126											
BHLHB9	80823	broad.mit.edu	37	X	102004542	102004543	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:102004542_102004543insA	uc022cbi.1	+	0	619_620	c.619_620insA	c.(619-621)gaafs	p.E207fs	BHLHB9_uc010nog.3_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrq.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrr.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrs.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrt.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc004ejo.3_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mru.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrv.2_Frame_Shift_Ins_p.E207fs	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	207						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAAATTAATGAAAAAAATAGG	0.45													A	102004543	-	A	102004542	7	5	232	1	0	1	1	0	0	0	0	0	1420	1291	45	0	621	0	BHLHB9	23	102004542	Frame_Shift_Ins	INS	-	TCGA-32-2632-01A-01D-1495-08	63821774	102004542	53266018	113	16127											
IL1RAPL2	26280	broad.mit.edu	37	X	105011591	105011591	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:105011591C>A	uc004elz.1	+	10	2754	c.1998C>A	c.(1996-1998)caC>caA	p.H666Q		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	666					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGAATTTCACAGGAACAGTT	0.428													A	105011591	C	A	105011591	3	1	232	1	0	0	0	0	1	0	0	0	7662	477	17	5	2036	5	IL1RAPL2	23	105011591	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	3007049	105011591	50258969	114	16128											
COL4A5	1287	broad.mit.edu	37	X	107841977	107841977	+	Missense_Mutation	SNP	G	G	A	rs104886135		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:107841977G>A	uc022ccg.1	+	24	2027	c.1825G>A	c.(1825-1827)Ggt>Agt	p.G609S	COL4A5_uc004enz.1_Missense_Mutation_p.G609S|COL4A5_uc004eob.1_Missense_Mutation_p.G217S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	609	Triple-helical region.		G -> R (in APSX; juvenile type).|G -> V (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGAACCCAGGTTTACCAGG	0.483									Alport syndrome with Diffuse Leiomyomatosis				A	107841977	G	A	107841977	3	1	232	1	0	0	0	0	1	0	0	0	3694	1000	35	3	1923	3	COL4A5	23	107841977	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2830386	107841977	47428583	115	16129											
KDM1A	23028	broad.mit.edu	37	1	23381588	23381589	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:23381588_23381589delCA	uc001bgi.2	+	4	906_907	c.757_758delCA	c.(757-759)cacfs	p.H253fs	KDM1A_uc001bgj.2_Frame_Shift_Del_p.H273fs	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	253	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCACCGAGTTCACAGTTATTTA	0.371													-	23381589	CA	-	23381588	7	5	233	1	0	1	0	1	0	0	0	0	8122	826	29	0	839	0	KDM1A	1	23381588	Frame_Shift_Del	DEL	CA	TCGA-32-2634-01A-01D-1495-08		23381588	225869033	1	16130											
TARS2	80222	broad.mit.edu	37	1	150471051	150471051	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:150471051C>T	uc001euq.3	+	10	1319	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Missense_Mutation_p.R356W|TARS2_uc009wlt.3_Missense_Mutation_p.R64W|TARS2_uc009wls.3_Missense_Mutation_p.R308W	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	438					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCTCTACACCGGGCCGAAGC	0.632													T	150471051	C	T	150471051	3	4	233	1	0	0	0	0	1	0	0	0	15557	643	23	2	1354	2	TARS2	1	150471051	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	127089463	150471051	98779570	2	16131											
TRIM11	81559	broad.mit.edu	37	1	228582635	228582635	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:228582635G>A	uc001hss.3	-	5	1433	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	TRIM11_uc010pvx.2_Missense_Mutation_p.A392V	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	393	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TGGAGCCAAGGCCCGTTCCGA	0.597													A	228582635	G	A	228582635	3	1	233	1	0	0	0	0	1	0	0	0	16484	1203	42	3	232	3	TRIM11	1	228582635	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	78111584	228582635	20667986	3	16132											
COG2	22796	broad.mit.edu	37	1	230820980	230820980	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:230820980G>C	uc001htw.3	+	11	1529	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	COG2_uc001htx.3_Missense_Mutation_p.E460Q|COG2_uc010pwc.2_Missense_Mutation_p.E333Q	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	460					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTTTGTCAATGAGGTAAGGGC	0.423													C	230820980	G	C	230820980	3	2	233	1	0	0	0	0	1	0	0	0	3658	1291	45	5	1424	5	COG2	1	230820980	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	2238345	230820980	18429641	4	16133											
THSD7B	80731	broad.mit.edu	37	2	137814764	137814764	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:137814764C>T	uc002tva.1	+	1	821	c.821C>T	c.(820-822)tCg>tTg	p.S274L	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S164L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCAGGTTTCGTGTACAAGA	0.363													T	137814764	C	T	137814764	3	4	233	1	0	0	0	0	1	0	0	0	15877	893	31	2	827	2	THSD7B	2	137814764	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		137814764	105384609	5	16134											
OBFC2A	64859	broad.mit.edu	37	2	192546717	192546717	+	Silent	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:192546717G>A	uc002usx.3	+	2	756	c.276G>A	c.(274-276)agG>agA	p.R92R	OBFC2A_uc021vuf.1_Non-coding_Transcript|OBFC2A_uc002usw.3_Silent_p.R12R|OBFC2A_uc002usy.3_Non-coding_Transcript|OBFC2A_uc021vug.1_5'Flank	NM_001031716	NP_001241665	Q96AH0	SOSB2_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2A (OBFC2A), transcript variant 1, mRNA.	92					double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding			kidney(2)|large_intestine(2)|lung(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)			ATACTGGAAGGGGTGGTGAAC	0.289													A	192546717	G	A	192546717	2	1	233	1	0	0	0	0	0	0	0	1	10808	1223	43	3		3	OBFC2A	2	192546717	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	54731953	192546717	50652656	6	16135											
RPE	6120	broad.mit.edu	37	2	210881273	210881273	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:210881273G>A	uc002vdn.3	+	3	419	c.385G>A	c.(385-387)Gca>Aca	p.A129T	RPE_uc002vdo.3_Missense_Mutation_p.A79T|RPE_uc002vdp.3_Missense_Mutation_p.A76T|RPE_uc010zjf.2_Missense_Mutation_p.A129T|RPE_uc010fup.3_Missense_Mutation_p.A61T|RPE_uc002vdq.3_Missense_Mutation_p.A79T|RPE_uc002vdr.3_Intron	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	Homo sapiens ribulose-5-phosphate-3-epimerase (RPE), transcript variant 1, mRNA.	129					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TGAGTATTTGGCACCATGGGC	0.398													A	210881273	G	A	210881273	3	1	233	1	0	0	0	0	1	0	0	0	13544	1203	42	3	457	3	RPE	2	210881273	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	18334556	210881273	32318100	7	16136											
NISCH	11188	broad.mit.edu	37	3	52521429	52521440	+	In_Frame_Del	DEL	GAGGAGGAGGAA	GAGGAGGAGGAA	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr3:52521429_52521440delGAGGAGGAGGAA	uc003ded.4	+	15	2055_2066	c.1921_1932delGAGGAGGAGGAA	c.(1921-1932)gaggaggaggaadel	p.EEEE641del	NISCH_uc003dee.4_In_Frame_Del_p.EEEE130del|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	641	Glu-rich.|Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ggaggaggatgaggaggaggaagaagaggagg	0.651													-	52521440	GAGGAGGAGGAA	-	52521429	7	5	233	1	0	1	0	1	0	0	0	0	10432	1291	45	0	1983	0	NISCH	3	52521429	In_Frame_Del	DEL	GAGGAGGAGGAA	TCGA-32-2634-01A-01D-1495-08		52521429	145501001	8	16137											
MAN2B2	23324	broad.mit.edu	37	4	6598876	6598876	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:6598876G>A	uc003gjf.1	+	7	1130	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	MAN2B2_uc003gje.1_Missense_Mutation_p.R365H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R314H	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	365			R -> C (in dbSNP:rs6858328).		mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TACACGTCCCGCAGCTCACTG	0.632													A	6598876	G	A	6598876	3	1	233	1	0	0	0	0	1	0	0	0	9217	1087	38	1	1124	1	MAN2B2	4	6598876	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		6598876	184555400	9	16138											
KIT	3815	broad.mit.edu	37	4	55561826	55561826	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:55561826T>A	uc010igr.3	+	1	303	c.216T>A	c.(214-216)gaT>gaA	p.D72E	KIT_uc010igs.3_Missense_Mutation_p.D72E	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	72	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATCCTGGATGAAACGAATG	0.463		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				A	55561826	T	A	55561826	3	1	233	1	0	0	0	0	1	0	0	0	8329	1461	51	5	222	5	KIT	4	55561826	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	48962950	55561826	135592450	10	16139											
BANK1	55024	broad.mit.edu	37	4	102816534	102816534	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:102816534T>C	uc003hvy.4	+	5	1250	c.976T>C	c.(976-978)Tct>Cct	p.S326P	BANK1_uc003hvx.4_Missense_Mutation_p.S311P|BANK1_uc010ill.3_Missense_Mutation_p.S193P|BANK1_uc003hvz.4_Missense_Mutation_p.S296P	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	326	DBB.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGTTCCAGTCTCTTCAAAC	0.303													C	102816534	T	C	102816534	3	2	233	1	0	0	0	0	1	0	0	0	1309	1667	58	4	998	4	BANK1	4	102816534	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	47254708	102816534	88337742	11	16140											
OTUD4	54726	broad.mit.edu	37	4	146059760	146059760	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:146059760G>A	uc003ika.4	-	20	2110	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	722							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGGTGCAGAGGGTACAGGTAA	0.488													A	146059760	G	A	146059760	3	1	233	1	0	0	0	0	1	0	0	0	11314	1232	43	3	1181	3	OTUD4	4	146059760	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	43243226	146059760	45094516	12	16141											
DNAH5	1767	broad.mit.edu	37	5	13841119	13841119	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:13841119T>C	uc003jfd.2	-	33	5647	c.5605A>G	c.(5605-5607)Aca>Gca	p.T1869A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1869	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					TCTATCAATGTATTGAGTAGC	0.413									Kartagener syndrome				C	13841119	T	C	13841119	3	2	233	1	0	0	0	0	1	0	0	0	4604	1638	57	4	8453	4	DNAH5	5	13841119	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08		13841119	167074141	13	16142											
PRDM9	56979	broad.mit.edu	37	5	23522425	23522425	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:23522425A>G	uc003jgo.3	+	6	703	c.521A>G	c.(520-522)aAg>aGg	p.K174R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	174					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						CTCAGGAAGAAGGAGACTGAA	0.428										HNSCC(3;0.000094)			G	23522425	A	G	23522425	3	3	233	1	0	0	0	0	1	0	0	0	12463	72	3	4	543	4	PRDM9	5	23522425	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	9681306	23522425	157392835	14	16143											
PIK3R1	5295	broad.mit.edu	37	5	67591121	67591121	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:67591121C>T	uc003jva.3	+	12	2294	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	PIK3R1_uc003jvc.3_Nonsense_Mutation_p.Q272*|PIK3R1_uc003jvd.3_Nonsense_Mutation_p.Q302*|PIK3R1_uc003jve.3_Nonsense_Mutation_p.Q251*|PIK3R1_uc021xzn.1_Nonsense_Mutation_p.Q209*|PIK3R1_uc011crb.2_Nonsense_Mutation_p.Q242*	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	572					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L570_D578del(2)|p.L570_Q572del(2)|p.I571I(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGACCTTATCCAGCTGAGAAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			T	67591121	C	T	67591121	4	4	233	1	0	0	0	0	0	1	0	0	11918	595	21	3	1890	3	PIK3R1	5	67591121	Nonsense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	44068696	67591121	113324139	15	16144											
FTMT	94033	broad.mit.edu	37	5	121187841	121187841	+	Silent	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:121187841C>T	uc003kss.3	+	0	192	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	61					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.G60W(1)|p.P61S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTACCGGGCCCGCCGCCGGCC	0.736													T	121187841	C	T	121187841	2	4	233	1	0	0	0	0	0	0	0	1	6085	639	23	2		2	FTMT	5	121187841	Silent	SNP	C	TCGA-32-2634-01A-01D-1495-08	53596720	121187841	59727419	16	16145											
C5orf25	375484	broad.mit.edu	37	5	175717776	175717776	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:175717776C>T	uc003mds.4	+	3	1599	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P417S			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	398												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		CATGGAAACCCCAGCCAGAAA	0.517													T	175717776	C	T	175717776	3	4	233	1	0	0	0	0	1	0	0	0	2288	638	22	3		3	C5orf25	5	175717776	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	54529935	175717776	5197484	17	16146											
RNF130	55819	broad.mit.edu	37	5	179467635	179467635	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:179467635A>T	uc003mll.1	-	1	667	c.260T>A	c.(259-261)cTg>cAg	p.L87Q	RNF130_uc003mlm.1_Missense_Mutation_p.L87Q	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	87					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.H86Y(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCACAGCCCAGATGATCAGC	0.388													T	179467635	A	T	179467635	3	4	233	1	0	0	0	0	1	0	0	0	13438	188	7	5	1031	5	RNF130	5	179467635	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	3749859	179467635	1447625	18	16147											
PACRG	135138	broad.mit.edu	37	6	163235309	163235309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr6:163235309G>A	uc003qua.3	+	2	511	c.287G>A	c.(286-288)tGg>tAg	p.W96*	PACRG_uc003qub.3_Nonsense_Mutation_p.W96*|PACRG_uc003quc.3_Nonsense_Mutation_p.W96*	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	96										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AAAATCGCCTGGAAGGTAAGT	0.488													A	163235309	G	A	163235309	4	1	233	1	0	0	0	0	0	1	0	0	11370	1357	47	3	293	3	PACRG	6	163235309	Nonsense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		163235309	7879758	19	16148											
IL6	3569	broad.mit.edu	37	7	22769182	22769182	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:22769182A>T	uc003svj.4	+	3	490	c.374A>T	c.(373-375)tAc>tTc	p.Y125F	LOC541472_uc010kun.2_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.Y125F|IL6_uc011jyp.1_Missense_Mutation_p.Y49F|IL6_uc011jyq.1_Missense_Mutation_p.Y179F	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	125					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TTTGAGGTATACCTAGAGTAC	0.443													T	22769182	A	T	22769182	3	4	233	1	0	0	0	0	1	0	0	0	7701	391	14	5	388	5	IL6	7	22769182	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08		22769182	136369481	20	16149											
NOD1	10392	broad.mit.edu	37	7	30496383	30496383	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:30496383G>A	uc003tav.3	-	3	678	c.155C>T	c.(154-156)gCc>gTc	p.A52V	NOD1_uc010kvs.2_Missense_Mutation_p.A52V|NOD1_uc003tax.2_Non-coding_Transcript|NOD1_uc003tay.2_Non-coding_Transcript|NOD1_uc010kvt.2_Non-coding_Transcript|NOD1_uc010kvu.2_Non-coding_Transcript	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	52	CARD.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGCATCTTCGGCCGAGAAGTA	0.552													A	30496383	G	A	30496383	3	1	233	1	0	0	0	0	1	0	0	0	10516	1203	42	3	2750	3	NOD1	7	30496383	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	7727201	30496383	128642280	21	16150											
ABCA13	154664	broad.mit.edu	37	7	48318026	48318026	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:48318026C>G	uc003toq.2	+	17	7259	c.7235C>G	c.(7234-7236)gCt>gGt	p.A2412G	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2412					transport	integral to membrane	ATP binding|ATPase activity			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						CTTGGGTCAGCTCTTCACCTT	0.383													G	48318026	C	G	48318026	3	3	233	1	0	0	0	0	1	0	0	0	31	797	28	5	7134	5	ABCA13	7	48318026	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	17821643	48318026	110820637	22	16151											
RABGEF1	27342	broad.mit.edu	37	7	66240358	66240358	+	Silent	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:66240358T>C	uc003tvf.3	+	5					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Silent_p.S108S|RABGEF1_uc010lag.3_Silent_p.S108S|RABGEF1_uc011kee.2_Silent_p.S122S|RABGEF1_uc003tvi.3_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TCAGTGCATCTTCCAGGGTCG	0.463													C	66240358	T	C	66240358	2	2	233	1	0	0	0	0	0	0	0	1	12966	1596	56	4		4	RABGEF1	7	66240358	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	17922332	66240358	92898305	23	16152											
SEMA3C	10512	broad.mit.edu	37	7	80430136	80430136	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:80430136A>T	uc011kgw.2	-	9	1056	c.977T>A	c.(976-978)gTg>gAg	p.V326E	SEMA3C_uc003uhj.3_Missense_Mutation_p.V308E|SEMA3C_uc011kgx.1_Missense_Mutation_p.V160E	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	308	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCAGAAACACATCCTCTAT	0.279													T	80430136	A	T	80430136	3	4	233	1	0	0	0	0	1	0	0	0	14026	159	6	5	1368	5	SEMA3C	7	80430136	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	14189778	80430136	78708527	24	16153											
CACNA2D1	781	broad.mit.edu	37	7	81591256	81591256	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:81591256C>T	uc003uhr.1	-	35	3176	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N	CACNA2D1_uc011kgy.1_Missense_Mutation_p.D186N	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	986						voltage-gated calcium channel complex	metal ion binding			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)	GATTTACTGTCGTTATCGAAG	0.418													T	81591256	C	T	81591256	3	4	233	1	0	0	0	0	1	0	0	0	2548	884	31	2	371	2	CACNA2D1	7	81591256	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	1161120	81591256	77547407	25	16154											
TES	26136	broad.mit.edu	37	7	115889244	115889244	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:115889244C>T	uc003vho.3	+	2	499	c.284C>T	c.(283-285)aCg>aTg	p.T95M	TES_uc011kmx.2_Missense_Mutation_p.T95M|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.T86M|TES_uc003vhp.3_Missense_Mutation_p.T86M|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	95	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	p.T95M(3)		endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATGATATTGACGAATCCAGTT	0.393													T	115889244	C	T	115889244	3	4	233	1	0	0	0	0	1	0	0	0	15762	536	19	1	294	1	TES	7	115889244	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	34297988	115889244	43249419	26	16155											
WDYHV1	55093	broad.mit.edu	37	8	124440173	124440173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr8:124440173delT	uc003yqn.1	+	1	218	c.93delT	c.(91-93)aatfs	p.N31fs	WDYHV1_uc011lij.1_5'UTR	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	31					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GTGAAGAAAATATTTGGAAGC	0.294													-	124440173	T	-	124440173	7	5	233	1	0	1	0	1	0	0	0	0	17340	1403	49	0	99	0	WDYHV1	8	124440173	Frame_Shift_Del	DEL	T	TCGA-32-2634-01A-01D-1495-08		124440173	21923849	27	16156											
PTEN	5728	broad.mit.edu	37	10	89692835	89692835	+	Missense_Mutation	SNP	G	G	T	rs57374291		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:89692835G>T	uc001kfb.3	+	4	1351	c.319G>T	c.(319-321)Gat>Tat	p.D107Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.D107Y(6)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(2)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692835	G	T	89692835	3	4	233	1	0	0	0	0	1	0	0	0	12738	942	33	5	337	5	PTEN	10	89692835	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		89692835	45841912	28	16157											
NFKB2	4791	broad.mit.edu	37	10	104158521	104158521	+	Silent	SNP	G	G	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:104158521G>T	uc001kvb.3	+	11	1282	c.1017G>T	c.(1015-1017)cgG>cgT	p.R339R	NFKB2_uc001kva.3_Silent_p.R339R|NFKB2_uc010qqk.1_Silent_p.R339R|NFKB2_uc001kvd.3_Silent_p.R339R|NFKB2_uc009xxc.3_Silent_p.R339R	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	339	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		AGCGGAAGCGGAGGAAGGCCT	0.637			T	IGH@	B-NHL								T	104158521	G	T	104158521	2	4	233	1	0	0	0	0	0	0	0	1	10376	1161	41	5		5	NFKB2	10	104158521	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	14465686	104158521	31376226	29	16158											
MUC5B	727897	broad.mit.edu	37	11	1158988	1158988	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:1158988T>C	uc021qbr.1	+	9	1213	c.1166T>C	c.(1165-1167)gTc>gCc	p.V389A				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	380					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCGGCTGTGTCCCTGTGTCA	0.662													C	1158988	T	C	1158988	3	2	233	1	0	0	0	0	1	0	0	0	9979	1682	58	4		4	MUC5B	11	1158988	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08		1158988	133847528	30	16159											
OR51L1	119682	broad.mit.edu	37	11	5020755	5020755	+	Silent	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:5020755T>C	uc010qyu.2	+	0	543	c.543T>C	c.(541-543)tgT>tgC	p.C181C		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGCCTTCTGTTTGCACCAGG	0.473													C	5020755	T	C	5020755	2	2	233	1	0	0	0	0	0	0	0	1	11102	1731	60	4		4	OR51L1	11	5020755	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	3861767	5020755	129985761	31	16160											
OR4D6	219983	broad.mit.edu	37	11	59225156	59225156	+	Silent	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59225156G>A	uc010rku.2	+	0	723	c.723G>A	c.(721-723)acG>acA	p.T241T		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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						CCACGTGCACGTCCCACATGC	0.557													A	59225156	G	A	59225156	2	1	233	1	0	0	0	0	0	0	0	1	11058	1132	40	1		1	OR4D6	11	59225156	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	54204401	59225156	75781360	32	16161											
OR4D11	219986	broad.mit.edu	37	11	59271382	59271382	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59271382A>T	uc001noa.1	+	0	334	c.334A>T	c.(334-336)Att>Ttt	p.I112F		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGCAGACATTTTTTCTCT	0.473													T	59271382	A	T	59271382	3	4	233	1	0	0	0	0	1	0	0	0	11055	217	8	5	336	5	OR4D11	11	59271382	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	46226	59271382	75735134	33	16162	20	2									
OR4D11	219986	broad.mit.edu	37	11	59271391	59271391	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59271391C>G	uc001noa.1	+	0	343	c.343C>G	c.(343-345)Ctc>Gtc	p.L115V		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CATTTTTTCTCTCTCTGTGAT	0.488													G	59271391	C	G	59271391	3	3	233	1	0	0	0	0	1	0	0	0	11055	913	32	5	345	5	OR4D11	11	59271391	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	9	59271391	75735125	34	16163	20	2									
CHRDL2	25884	broad.mit.edu	37	11	74414523	74414523	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:74414523G>A	uc001ovh.3	-	7	1026	c.773C>T	c.(772-774)aCg>aTg	p.T258M	CHRDL2_uc001ovg.3_Missense_Mutation_p.T142M|CHRDL2_uc001ovi.3_Missense_Mutation_p.T258M|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Intron	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	258	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GTGGGAGTACGTCTTCCCGCC	0.657													A	74414523	G	A	74414523	3	1	233	1	0	0	0	0	1	0	0	0	3374	1145	40	1	602	1	CHRDL2	11	74414523	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	15143132	74414523	60591993	35	16164											
EXPH5	23086	broad.mit.edu	37	11	108383232	108383232	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:108383232delC	uc001pkk.3	-	5	3113	c.3002delG	c.(3001-3003)agcfs	p.S1001fs	EXPH5_uc010rvz.2_Frame_Shift_Del_p.S845fs|EXPH5_uc010rvy.2_Frame_Shift_Del_p.S813fs	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1001					intracellular protein transport		Rab GTPase binding			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)		TTCAATGAGGCTCCTGTGATC	0.363													-	108383232	C	-	108383232	7	5	233	1	0	1	0	1	0	0	0	0	5322	797	28	0	2971	0	EXPH5	11	108383232	Frame_Shift_Del	DEL	C	TCGA-32-2634-01A-01D-1495-08	33968709	108383232	26623284	36	16165											
SIK2	23235	broad.mit.edu	37	11	111590592	111590592	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:111590592G>A	uc001plt.3	+	9	1478	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	454					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTCCATTGACGAAGGGCTGGA	0.587													A	111590592	G	A	111590592	3	1	233	1	0	0	0	0	1	0	0	0	14318	1059	37	2	1398	2	SIK2	11	111590592	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	3207360	111590592	23415924	37	16166											
ZBTB44	29068	broad.mit.edu	37	11	130130851	130130851	+	Silent	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:130130851A>T	uc001qga.3	-	1	1312	c.918T>A	c.(916-918)ccT>ccA	p.P306P	ZBTB44_uc001qgb.4_Silent_p.P306P|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Silent_p.P306P|ZBTB44_uc001qfz.3_Silent_p.P306P	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	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;0.0192)|Lung(977;0.235)		ATGCACTGACAGGCTGGGACA	0.473													T	130130851	A	T	130130851	2	4	233	1	0	0	0	0	0	0	0	1	17542	175	7	5		5	ZBTB44	11	130130851	Silent	SNP	A	TCGA-32-2634-01A-01D-1495-08	18540259	130130851	4875665	38	16167											
ANO2	57101	broad.mit.edu	37	12	5672695	5672695	+	Missense_Mutation	SNP	T	T	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:5672695T>A	uc001qnm.2	-	25	2839	c.2767A>T	c.(2767-2769)Att>Ttt	p.I923F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	928						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.M923I(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATGTCTGGAATCATCCAGTCC	0.542													A	5672695	T	A	5672695	3	1	233	1	0	0	0	0	1	0	0	0	697	1435	50	5	233	5	ANO2	12	5672695	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08		5672695	128179200	39	16168											
PLEKHG6	55200	broad.mit.edu	37	12	6436676	6436676	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:6436676C>T	uc001qnr.3	+	14	2075	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	PLEKHG6_uc010sew.2_Missense_Mutation_p.R643C|PLEKHG6_uc010sex.2_Missense_Mutation_p.R611C	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	643					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGCTCCTCAACGCCGAAGCGC	0.642													T	6436676	C	T	6436676	3	4	233	1	0	0	0	0	1	0	0	0	12074	536	19	1	2027	1	PLEKHG6	12	6436676	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	763981	6436676	127415219	40	16169											
HCFC2	29915	broad.mit.edu	37	12	104461817	104461817	+	Silent	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:104461817T>C	uc001tkj.4	+	2	508	c.405T>C	c.(403-405)taT>taC	p.Y135Y	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	135					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCTCTTTATATGGTAACAAAT	0.418													C	104461817	T	C	104461817	2	2	233	1	0	0	0	0	0	0	0	1	6993	1471	51	4		4	HCFC2	12	104461817	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	98025141	104461817	29390078	41	16170											
RB1	5925	broad.mit.edu	37	13	49039230	49039230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr13:49039230C>T	uc001vcb.3	+	21	2474	c.2308C>T	c.(2308-2310)Cag>Tag	p.Q770*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	770	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.L769fs*2(2)|p.Q770fs*24(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAATATTTTGCAGTATGCTTC	0.323		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	49039230	C	T	49039230	4	4	233	1	0	0	0	0	0	1	0	0	13098	711	25	3	2394	3	RB1	13	49039230	Nonsense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		49039230	66130648	42	16171											
KCNRG	283518	broad.mit.edu	37	13	50589726	50589726	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr13:50589726C>T	uc001vdu.3	+	0	337	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Missense_Mutation_p.R33C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	33	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TCGTTTGGCACGCATGTTAGA	0.408													T	50589726	C	T	50589726	3	4	233	1	0	0	0	0	1	0	0	0	8087	536	19	1	99	1	KCNRG	13	50589726	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	1550496	50589726	64580152	43	16172											
TM9SF1	10548	broad.mit.edu	37	14	24661549	24661549	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr14:24661549C>T	uc010tob.1	-	7	2320	c.1686G>A	c.(1684-1686)atG>atA	p.M562I	IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc001wmz.2_5'Flank|TM9SF1_uc001wnb.1_Missense_Mutation_p.M327I|TM9SF1_uc010toa.1_Missense_Mutation_p.M240I|TM9SF1_uc001wnc.3_Missense_Mutation_p.M327I	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	327					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CCAGCAGTGCCATGACAATAA	0.537													T	24661549	C	T	24661549	3	4	233	1	0	0	0	0	1	0	0	0	15974	594	21	3	894	3	TM9SF1	14	24661549	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		24661549	82687991	44	16173											
SERPINA4	5267	broad.mit.edu	37	14	95033524	95033524	+	Silent	SNP	T	T	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr14:95033524T>A	uc010avd.3	+	2	1252	c.978T>A	c.(976-978)atT>atA	p.I326I	SERPINA4_uc001ydk.3_Silent_p.I289I|SERPINA4_uc001ydl.3_Silent_p.I289I	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	289					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			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)		TGAGGGAGATTGAAGAGGTTC	0.468													A	95033524	T	A	95033524	2	1	233	1	0	0	0	0	0	0	0	1	14091	1800	63	5		5	SERPINA4	14	95033524	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	70371975	95033524	12316016	45	16174											
MAP1A	4130	broad.mit.edu	37	15	43817784	43817784	+	Silent	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:43817784C>T	uc001zrt.3	+	3	4580	c.4113C>T	c.(4111-4113)gaC>gaT	p.D1371D		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1371						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCAGAAAGACAAAACTCTGG	0.453													T	43817784	C	T	43817784	2	4	233	1	0	0	0	0	0	0	0	1	9227	477	17	3		3	MAP1A	15	43817784	Silent	SNP	C	TCGA-32-2634-01A-01D-1495-08		43817784	58713608	46	16175											
RNF111	54778	broad.mit.edu	37	15	59323149	59323149	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:59323149T>C	uc002afv.3	+	1	407	c.128T>C	c.(127-129)aTt>aCt	p.I43T	RNF111_uc002afs.3_Missense_Mutation_p.I43T|RNF111_uc002aft.3_Missense_Mutation_p.I43T|RNF111_uc002afu.3_Missense_Mutation_p.I43T|RNF111_uc002afw.3_Missense_Mutation_p.I43T	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	43					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCAGAGCCCATTGGGGCAGCC	0.438													C	59323149	T	C	59323149	3	2	233	1	0	0	0	0	1	0	0	0	13425	1493	52	4	130	4	RNF111	15	59323149	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	15505365	59323149	43208243	47	16176											
TP53	7157	broad.mit.edu	37	17	7577520	7577520	+	Missense_Mutation	SNP	A	A	C			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr17:7577520A>C	uc002gim.2	-	6	955	c.761T>G	c.(760-762)aTc>aGc	p.I254S	TP53_uc002gig.1_Missense_Mutation_p.I254S|TP53_uc002gih.3_Missense_Mutation_p.I254S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I122S|TP53_uc010cnf.1_Missense_Mutation_p.I122S|TP53_uc002gii.1_Missense_Mutation_p.I122S|TP53_uc010cni.1_Missense_Mutation_p.I254S|TP53_uc010cnh.1_Missense_Mutation_p.I254S|TP53_uc002gij.2_Missense_Mutation_p.I254S|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I161S|TP53_uc002gio.2_Missense_Mutation_p.I122S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	254	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> 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.I254S(12)|p.L252_I254delLTI(8)|p.0?(8)|p.I254F(7)|p.I254T(6)|p.I254N(6)|p.I254D(6)|p.I254V(5)|p.T253S(5)|p.I254fs*10(5)|p.T253_I255del(4)|p.I254del(4)|p.I251_T253delILT(4)|p.T253I(3)|p.T253A(3)|p.T253fs*11(3)|p.T253P(3)|p.T253N(2)|p.T253T(2)|p.T253fs*91(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.L252_T253delLT(1)|p.P250_T253delPILT(1)|p.T253fs*92(1)|p.I254I(1)|p.?(1)|p.T253del(1)|p.I254fs*91(1)|p.T253fs*?(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)		CAGTGTGATGATGGTGAGGAT	0.587		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)			C	7577520	A	C	7577520	3	2	233	1	0	0	0	0	1	0	0	0	16378	333	12	5	529	5	TP53	17	7577520	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08		7577520	73617690	48	16177											
DHRS11	79154	broad.mit.edu	37	17	34951507	34951507	+	Missense_Mutation	SNP	G	G	A	rs148449399		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr17:34951507G>A	uc002hnd.3	+	1	468	c.254G>A	c.(253-255)cGt>cAt	p.R85H		NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 11 (DHRS11), mRNA.	85						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						TCAGCTATCCGTTCTCAGCAC	0.537													A	34951507	G	A	34951507	3	1	233	1	0	0	0	0	1	0	0	0	4487	1145	40	1	260	1	DHRS11	17	34951507	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	27373987	34951507	46243703	49	16178											
LAMA3	3909	broad.mit.edu	37	18	21511114	21511114	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr18:21511114C>T	uc002kuq.3	+	64	8611	c.8525C>T	c.(8524-8526)aCg>aTg	p.T2842M	LAMA3_uc002kur.3_Missense_Mutation_p.T2786M|LAMA3_uc002kus.4_Missense_Mutation_p.T1233M|LAMA3_uc002kut.4_Missense_Mutation_p.T1177M	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2842	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCCACAGACGTATATGGAT	0.428													T	21511114	C	T	21511114	3	4	233	1	0	0	0	0	1	0	0	0	8607	536	19	1	8958	1	LAMA3	18	21511114	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		21511114	56566134	50	16179											
DSC3	1825	broad.mit.edu	37	18	28604418	28604418	+	Missense_Mutation	SNP	A	A	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr18:28604418A>T	uc002kwj.4	-	5	827	c.672T>A	c.(670-672)gaT>gaA	p.D224E	DSC3_uc002kwi.4_Missense_Mutation_p.D224E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	224	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			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)			GGAGGGGCAGATCTGCTGAAT	0.398													T	28604418	A	T	28604418	3	4	233	1	0	0	0	0	1	0	0	0	4767	330	12	5	2093	5	DSC3	18	28604418	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	7093304	28604418	49472830	51	16180											
ANKRD24	170961	broad.mit.edu	37	19	4207777	4207777	+	Splice_Site	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:4207777G>A	uc010dtt.1	+	10	921	c.645_splice	c.e10-1	p.R215_splice	ANKRD24_uc002lzs.2_Splice_Site_p.R186_splice|ANKRD24_uc002lzt.2_Splice_Site_p.R187_splice	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	215										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCCCCTGGTAGGACGGCCCTG	0.682											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4207777	G	A	4207777	5	1	233	1	0	0	0	0	0	0	1	0	653	1014	35	3	678	3	ANKRD24	19	4207777	Splice_Site	SNP	G	TCGA-32-2634-01A-01D-1495-08		4207777	54921206	52	16181											
CACNA1A	773	broad.mit.edu	37	19	13355996	13355996	+	Silent	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:13355996C>T	uc002mwy.3	-	31	5186	c.4950_splice	c.e31+1	p.G1650_splice	CACNA1A_uc002mwx.3_Splice_Site_p.G356_splice|CACNA1A_uc010dzc.2_Splice_Site_p.G1176_splice|CACNA1A_uc010xnd.2_Splice_Site_p.G1653_splice|CACNA1A_uc021ups.1_Splice_Site_p.G1650_splice|CACNA1A_uc010xne.2_Splice_Site_p.G1653_splice|CACNA1A_uc010dze.2_Splice_Site_p.G1650_splice|CACNA1A_uc021upt.1_Splice_Site_p.G1651_splice|CACNA1A_uc002mwv.3_Splice_Site_p.G167_splice	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1651					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAGACTTACCCCAAACTCAG	0.597													T	13355996	C	T	13355996	2	4	233	1	0	0	0	0	0	0	0	1	2538	637	22	3		3	CACNA1A	19	13355996	Silent	SNP	C	TCGA-32-2634-01A-01D-1495-08	9148219	13355996	45772987	53	16182											
ATP4A	495	broad.mit.edu	37	19	36051416	36051416	+	Silent	SNP	G	G	A	rs149880813		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:36051416G>A	uc002oal.1	-	5	665	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	212					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGCGGATGTCGGCGGGCACTC	0.622													A	36051416	G	A	36051416	2	1	233	1	0	0	0	0	0	0	0	1	1145	1103	39	2		2	ATP4A	19	36051416	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	22695420	36051416	23077567	54	16183											
EPS8L1	54869	broad.mit.edu	37	19	55593671	55593671	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:55593671C>T	uc002qis.4	+	10	1123	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	EPS8L1_uc010ess.1_Missense_Mutation_p.P322L|EPS8L1_uc010est.1_Missense_Mutation_p.P340L|EPS8L1_uc010yfr.2_Missense_Mutation_p.P276L|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.P213L|EPS8L1_uc002qiv.3_5'UTR|EPS8L1_uc002qiw.3_Missense_Mutation_p.P87L	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	340						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATCGCCGACCCCTCCTCTCCG	0.731													T	55593671	C	T	55593671	3	4	233	1	0	0	0	0	1	0	0	0	5195	623	22	3	1109	3	EPS8L1	19	55593671	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	19542255	55593671	3535312	55	16184											
ZFP28	140612	broad.mit.edu	37	19	57066095	57066095	+	Missense_Mutation	SNP	T	T	G			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:57066095T>G	uc002qnj.3	+	7	2012	c.1941T>G	c.(1939-1941)tgT>tgG	p.C647W	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCTATGAATGTAAGGTTTGTA	0.458													G	57066095	T	G	57066095	3	3	233	1	0	0	0	0	1	0	0	0	17639	1644	57	5	1971	5	ZFP28	19	57066095	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	1472424	57066095	2062888	56	16185											
NSFL1C	55968	broad.mit.edu	37	20	1424444	1424444	+	Silent	SNP	G	G	A			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr20:1424444G>A	uc002wfc.3	-	8	1931	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	NSFL1C_uc021vzq.1_Silent_p.L241L|NSFL1C_uc002wfe.3_Silent_p.L324L	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	355	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTTCCTTCAGGGTCTGGCTC	0.582													A	1424444	G	A	1424444	2	1	233	1	0	0	0	0	0	0	0	1	10672	991	35	3		3	NSFL1C	20	1424444	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08		1424444	61601076	57	16186											
SLC6A14	11254	broad.mit.edu	37	X	115573956	115573956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chrX:115573956G>T	uc004eqi.3	+	3	579	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	SLC6A14_uc011mtm.2_Splice_Site	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	150					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTTTCAAAGTGAACTACCATG	0.323													T	115573956	G	T	115573956	4	4	233	1	0	0	0	0	0	1	0	0	14677	1291	45	5	462	5	SLC6A14	23	115573956	Nonsense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		115573956	39696604	58	16187											
UBE2U	148581	broad.mit.edu	37	1	64707415	64707418	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:64707415_64707418delAAGT	uc001dbn.1	+	8	921	c.677_splice	c.e8+1	p.K226_splice		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	226							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						ATGGAATTTAAAGTAAGAAATATG	0.304													-	64707418	AAGT	-	64707415	8	5	234	1	0	1	0	1	0	0	1	0	16871	28	1	0	706	0	UBE2U	1	64707415	Splice_Site	DEL	AAGT	TCGA-32-2638-01A-01D-1495-08		64707415	184543206	1	16188											
AMPD1	270	broad.mit.edu	37	1	115221096	115221096	+	Missense_Mutation	SNP	C	C	T	rs142123340	by1000genomes	TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:115221096C>T	uc001efe.2	-	7	1097	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	AMPD1_uc001eff.2_Missense_Mutation_p.R346H	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	317					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTTAATAAAACGCAGCAGATG	0.368													T	115221096	C	T	115221096	3	4	234	1	0	0	0	0	1	0	0	0	585	536	19	1	1329	1	AMPD1	1	115221096	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	50513681	115221096	134029525	2	16189											
ASH1L	55870	broad.mit.edu	37	1	155449241	155449241	+	Silent	SNP	G	G	C			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:155449241G>C	uc009wqq.3	-	2	3900	c.3420C>G	c.(3418-3420)tcC>tcG	p.S1140S	ASH1L_uc001fkt.3_Silent_p.S1140S|ASH1L_uc009wqr.1_Silent_p.S1140S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1140					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGCCCTGTCTGGAGTGTAAAT	0.478													C	155449241	G	C	155449241	2	2	234	1	0	0	0	0	0	0	0	1	1041	1335	47	5		5	ASH1L	1	155449241	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	40228145	155449241	93801380	3	16190											
SEC16B	89866	broad.mit.edu	37	1	177937026	177937026	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:177937026C>T	uc001glj.1	-	6	957	c.91G>A	c.(91-93)Gga>Aga	p.G31R	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.G31R|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.G31R	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	31					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGATGATGTCCATCTCTCCGA	0.602													T	177937026	C	T	177937026	3	4	234	1	0	0	0	0	1	0	0	0	13987	603	21	3	3191	3	SEC16B	1	177937026	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	22487785	177937026	71313595	4	16191											
USH2A	7399	broad.mit.edu	37	1	216595556	216595556	+	Silent	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:216595556C>T	uc001hku.1	-	1	510	c.123G>A	c.(121-123)gaG>gaA	p.E41E	USH2A_uc001hkv.3_Silent_p.E41E	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	41					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		CTCCCACGTTCTCCAGCCTTG	0.473										HNSCC(13;0.011)			T	216595556	C	T	216595556	2	4	234	1	0	0	0	0	0	0	0	1	17033	912	32	3		3	USH2A	1	216595556	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	38658530	216595556	32655065	5	16192											
OBSCN	84033	broad.mit.edu	37	1	228564891	228564891	+	Silent	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:228564891G>A	uc009xez.1	+	100	23222	c.23178G>A	c.(23176-23178)ccG>ccA	p.P7726P	OBSCN_uc001hsr.1_Silent_p.P2355P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7726	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGCCACCCGCACCTGGCCC	0.697													A	228564891	G	A	228564891	2	1	234	1	0	0	0	0	0	0	0	1	10812	1074	38	1		1	OBSCN	1	228564891	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	11969335	228564891	20685730	6	16193											
ZP4	57829	broad.mit.edu	37	1	238048807	238048807	+	Silent	SNP	C	C	G			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:238048807C>G	uc001hym.3	-	7	1331	c.1044G>C	c.(1042-1044)gtG>gtC	p.V348V	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	348	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)			TGGAGACCTCCACGTAAATGG	0.522													G	238048807	C	G	238048807	2	3	234	1	0	0	0	0	0	0	0	1	18215	581	21	5		5	ZP4	1	238048807	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	9483916	238048807	11201814	7	16194											
DTNB	1838	broad.mit.edu	37	2	25674485	25674485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:25674485G>A	uc002rgh.3	-	11	1439	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	DTNB_uc002rgg.3_Nonsense_Mutation_p.R26*|DTNB_uc010yko.2_Nonsense_Mutation_p.R340*|DTNB_uc002rgi.3_Nonsense_Mutation_p.R397*|DTNB_uc002rgj.3_Nonsense_Mutation_p.R397*|DTNB_uc002rgk.3_Nonsense_Mutation_p.R367*|DTNB_uc002rgl.3_Nonsense_Mutation_p.R367*|DTNB_uc002rgq.3_Nonsense_Mutation_p.R397*|DTNB_uc002rgn.3_Nonsense_Mutation_p.R193*|DTNB_uc010ykp.2_Nonsense_Mutation_p.R193*|DTNB_uc002rgr.1_Nonsense_Mutation_p.R386*|DTNB_uc010ykq.1_Nonsense_Mutation_p.R250*	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	397						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATCCAGTCGGCTAGGACTG	0.468													A	25674485	G	A	25674485	4	1	234	1	0	0	0	0	0	1	0	0	4789	1124	39	2	730	2	DTNB	2	25674485	Nonsense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		25674485	217524888	8	16195											
DUSP11	8446	broad.mit.edu	37	2	74007043	74007043	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:74007043C>A	uc002sjp.3	-	0	242	c.200G>T	c.(199-201)cGc>cTc	p.R67L	DUSP11_uc002sjq.4_Missense_Mutation_p.R67L	NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	20					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GGCTGAGGAGCGTCCTGAAAA	0.617											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74007043	C	A	74007043	3	1	234	1	0	0	0	0	1	0	0	0	4811	768	27	5	969	5	DUSP11	2	74007043	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	48332558	74007043	169192330	9	16196											
MAP4K4	9448	broad.mit.edu	37	2	102483026	102483026	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:102483026C>T	uc002tbc.3	+	18	2719	c.2341C>T	c.(2341-2343)Cgc>Tgc	p.R781C	MAP4K4_uc002tbf.3_Missense_Mutation_p.R673C|MAP4K4_uc002tbd.3_Missense_Mutation_p.R673C|MAP4K4_uc010yvy.2_Missense_Mutation_p.R696C|MAP4K4_uc002tbh.3_Missense_Mutation_p.R618C|MAP4K4_uc002tbg.3_Missense_Mutation_p.R703C|MAP4K4_uc002tbi.3_Missense_Mutation_p.R503C|MAP4K4_uc010yvz.2_Missense_Mutation_p.R676C|MAP4K4_uc002tbk.3_Missense_Mutation_p.R158C|MAP4K4_uc021vlq.1_5'UTR|MAP4K4_uc002tbl.3_5'UTR	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	703					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCGGGGAACGCTTCAGAGT	0.532													T	102483026	C	T	102483026	3	4	234	1	0	0	0	0	1	0	0	0	9262	536	19	1	2415	1	MAP4K4	2	102483026	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	28475983	102483026	140716347	10	16197											
RCAN2	51776	broad.mit.edu	37	2	174131422	174131422	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:174131422G>A	uc002uhz.3	+	19	2547	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	p.A783S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCCATCTCCCGCCAAAACCAA	0.473													A	174131422	G	A	174131422	3	1	234	1	0	0	0	0	1	0	0	0	13169	1087	38	1		1	RCAN2	2	174131422	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	71648396	174131422	69067951	11	16198											
MYO1B	4430	broad.mit.edu	37	2	192261188	192261188	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:192261188G>A	uc010fsg.2	+	20	2515	c.2260G>A	c.(2260-2262)Gcc>Acc	p.A754T	MYO1B_uc002usq.2_Missense_Mutation_p.A754T|MYO1B_uc002usr.2_Missense_Mutation_p.A754T|MYO1B_uc002usu.2_Missense_Mutation_p.A28T	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	754	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.S753S(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)			AAAGAGTTCCGCCTTAGTAAT	0.373													A	192261188	G	A	192261188	3	1	234	1	0	0	0	0	1	0	0	0	10069	1087	38	1	2338	1	MYO1B	2	192261188	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	18129766	192261188	50938185	12	16199											
ZNF385D	79750	broad.mit.edu	37	3	21792472	21792472	+	Translation_Start_Site	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:21792472G>A	uc003cce.3	-	0					ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.							nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGGCTGGCACGTAGAGCAGAG	0.557													A	21792472	G	A	21792472	1	1	234	1	0	0	0	0	0	0	0	0	17875	1160	40	1		1	ZNF385D	3	21792472	Translation_Start_Site	SNP	G	TCGA-32-2638-01A-01D-1495-08		21792472	176229958	13	16200											
SUCLG2	8801	broad.mit.edu	37	3	67570993	67570993	+	Silent	SNP	G	G	C			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:67570993G>C	uc021xae.1	-	4	511	c.483C>G	c.(481-483)tcC>tcG	p.S161S	SUCLG2_uc010hob.3_Silent_p.S42S|SUCLG2_uc003dna.4_Silent_p.S161S	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	GGCCATTGCAGGACCGGTCCA	0.502													C	67570993	G	C	67570993	2	2	234	1	0	0	0	0	0	0	0	1	15364	987	35	5		5	SUCLG2	3	67570993	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	45778521	67570993	130451437	14	16201											
IFT122	55764	broad.mit.edu	37	3	129214370	129214370	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:129214370G>A	uc003eml.3	+	18	2487	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	IFT122_uc003emm.3_Missense_Mutation_p.A710T|IFT122_uc003emn.3_Missense_Mutation_p.A651T|IFT122_uc003emo.3_Missense_Mutation_p.A599T|IFT122_uc003emp.3_Missense_Mutation_p.A560T|IFT122_uc010htc.3_Missense_Mutation_p.A702T|IFT122_uc011bky.2_Missense_Mutation_p.A501T|IFT122_uc011bla.2_Missense_Mutation_p.A483T|IFT122_uc003emr.3_Missense_Mutation_p.A462T|IFT122_uc010hte.3_Intron|IFT122_uc003ems.3_Missense_Mutation_p.A91T|IFT122_uc011bkx.1_Missense_Mutation_p.A550T|IFT122_uc010htd.1_Missense_Mutation_p.A189T	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	710					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCATGAGGCCGCCAAACTGTA	0.512													A	129214370	G	A	129214370	3	1	234	1	0	0	0	0	1	0	0	0	7555	1087	38	1	2355	1	IFT122	3	129214370	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	61643377	129214370	68808060	15	16202											
GRK7	131890	broad.mit.edu	37	3	141497201	141497201	+	Silent	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:141497201C>T	uc011bnd.2	+	0	159	c.75C>T	c.(73-75)tgC>tgT	p.C25C		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	25					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTCGGACTGCGACAGCAAAG	0.701													T	141497201	C	T	141497201	2	4	234	1	0	0	0	0	0	0	0	1	6794	776	27	1		1	GRK7	3	141497201	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	12282831	141497201	56525229	16	16203											
TM4SF1	4071	broad.mit.edu	37	3	149093335	149093335	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:149093335C>G	uc003exb.1	-	2	542	c.308G>C	c.(307-309)gGa>gCa	p.G103A	TM4SF1_uc003exc.1_Missense_Mutation_p.G14A	NM_014220	NP_055035	P30408	T4S1_HUMAN	Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA.	103						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTAGCCAGATCCTGCAATTCC	0.507													G	149093335	C	G	149093335	3	3	234	1	0	0	0	0	1	0	0	0	15963	855	30	5	312	5	TM4SF1	3	149093335	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	7596134	149093335	48929095	17	16204											
ADAMTS3	9508	broad.mit.edu	37	4	73184402	73184402	+	Missense_Mutation	SNP	C	C	G	rs80237783		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:73184402C>G	uc003hgk.2	-	9	1409	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	458	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAGGGTCATCAAGGAGACAG	0.343													G	73184402	C	G	73184402	3	3	234	1	0	0	0	0	1	0	0	0	267	826	29	5	2297	5	ADAMTS3	4	73184402	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		73184402	117969874	18	16205											
MRPL1	65008	broad.mit.edu	37	4	78804480	78804480	+	Silent	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:78804480C>T	uc003hku.2	+	2	426	c.228C>T	c.(226-228)ccC>ccT	p.P76P		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	76							RNA binding	p.P76P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAGCATATCCCTATATGGAAG	0.323													T	78804480	C	T	78804480	2	4	234	1	0	0	0	0	0	0	0	1	9774	668	24	3		3	MRPL1	4	78804480	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	5620078	78804480	112349796	19	16206											
UNC5C	8633	broad.mit.edu	37	4	96090460	96090460	+	Silent	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:96090460G>A	uc003hto.3	-	15	3074	c.2721C>T	c.(2719-2721)agC>agT	p.S907S		NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	907	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTGCCAGCATGCTCAGGTTTC	0.483													A	96090460	G	A	96090460	2	1	234	1	0	0	0	0	0	0	0	1	16990	1310	46	3		3	UNC5C	4	96090460	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	17285980	96090460	95063816	20	16207											
NAF1	92345	broad.mit.edu	37	4	164054388	164054388	+	Silent	SNP	A	A	G			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:164054388A>G	uc003iqj.3	-	6	1145	c.951T>C	c.(949-951)gaT>gaC	p.D317D	NAF1_uc010iqw.1_Silent_p.D317D	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	317					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCTCTTTTTCATCATCACTAA	0.333													G	164054388	A	G	164054388	2	3	234	1	0	0	0	0	0	0	0	1	10140	214	8	4		4	NAF1	4	164054388	Silent	SNP	A	TCGA-32-2638-01A-01D-1495-08	67963928	164054388	27099888	21	16208											
ODZ3	55714	broad.mit.edu	37	4	183574978	183574978	+	Missense_Mutation	SNP	T	T	C			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:183574978T>C	uc003ivd.1	+	4	1118	c.1043T>C	c.(1042-1044)tTt>tCt	p.F348S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	348					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AATGACACATTTGAGAATGGA	0.418													C	183574978	T	C	183574978	3	2	234	1	0	0	0	0	1	0	0	0	10836	1841	64	4	1061	4	ODZ3	4	183574978	Missense_Mutation	SNP	T	TCGA-32-2638-01A-01D-1495-08	19520590	183574978	7579298	22	16209											
SH3RF2	153769	broad.mit.edu	37	5	145393517	145393517	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr5:145393517C>T	uc003lnt.3	+	4	1190	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	318							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R318C(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTCAGGGCGCCATATGGT	0.577													T	145393517	C	T	145393517	3	4	234	1	0	0	0	0	1	0	0	0	14259	768	27	1	966	1	SH3RF2	5	145393517	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		145393517	35521743	23	16210											
FRK	2444	broad.mit.edu	37	6	116265439	116265439	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:116265439delC	uc003pwi.1	-	5	1555	c.1108delG	c.(1108-1110)gtafs	p.V370fs		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	370	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AAATCTGCTACTTTGTAGATA	0.388													-	116265439	C	-	116265439	7	5	234	1	0	1	0	1	0	0	0	0	6048	565	20	0	421	0	FRK	6	116265439	Frame_Shift_Del	DEL	C	TCGA-32-2638-01A-01D-1495-08		116265439	54849628	24	16211											
NKAIN2	154215	broad.mit.edu	37	6	124979424	124979424	+	Silent	SNP	T	T	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:124979424T>A	uc003pzo.3	+	3	643	c.366T>A	c.(364-366)ccT>ccA	p.P122P	NKAIN2_uc003pzn.1_Silent_p.P122P|NKAIN2_uc010keq.3_Intron|NKAIN2_uc003pzp.3_Silent_p.P121P|NKAIN2_uc010ker.3_Silent_p.P32P	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	122						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CAGTGACACCTGCCCCAGACT	0.502													A	124979424	T	A	124979424	2	1	234	1	0	0	0	0	0	0	0	1	10436	1567	55	5		5	NKAIN2	6	124979424	Silent	SNP	T	TCGA-32-2638-01A-01D-1495-08	8713985	124979424	46135643	25	16212											
NOX3	50508	broad.mit.edu	37	6	155743923	155743923	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:155743923C>T	uc003qqm.3	-	9	1316	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	405							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			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)		CCCGCGGCAACGCACACACAC	0.537													T	155743923	C	T	155743923	3	4	234	1	0	0	0	0	1	0	0	0	10557	536	19	1	509	1	NOX3	6	155743923	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	30764499	155743923	15371144	26	16213											
PLG	5340	broad.mit.edu	37	6	161134138	161134138	+	Silent	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:161134138C>T	uc003qtm.4	+	4	640	c.528C>T	c.(526-528)tgC>tgT	p.C176C		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	176	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGACTACTGCGACATTCTTG	0.473													T	161134138	C	T	161134138	2	4	234	1	0	0	0	0	0	0	0	1	12086	776	27	1		1	PLG	6	161134138	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	5390215	161134138	9980929	27	16214											
NPC1L1	29881	broad.mit.edu	37	7	44560418	44560418	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:44560418C>T	uc003tlb.3	-	14	3137	c.3081_splice	c.e14-1	p.G1027_splice	NPC1L1_uc011kbw.2_Splice_Site_p.G981_splice|NPC1L1_uc003tlc.3_Splice_Site_p.G1027_splice|NPC1L1_uc003tla.3_Splice_Site_p.G30_splice	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1027					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGCCAGGCCGCTGCAAGAA	0.572													T	44560418	C	T	44560418	3	4	234	1	0	0	0	0	1	0	0	0	10571	666	23	2	1025	2	NPC1L1	7	44560418	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		44560418	114578245	28	16215											
CACNA2D1	781	broad.mit.edu	37	7	81594957	81594957	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:81594957C>T	uc003uhr.1	-	31	2783	c.2527G>A	c.(2527-2529)Gat>Aat	p.D843N	CACNA2D1_uc011kgy.1_Missense_Mutation_p.D55N	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	855						voltage-gated calcium channel complex	metal ion binding	p.D843N(2)		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)	AACCCACCATCATCCAGAATC	0.368													T	81594957	C	T	81594957	3	4	234	1	0	0	0	0	1	0	0	0	2548	826	29	3	780	3	CACNA2D1	7	81594957	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	37034539	81594957	77543706	29	16216											
ZNF804B	219578	broad.mit.edu	37	7	88965893	88965893	+	Silent	SNP	A	A	G			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:88965893A>G	uc011khi.2	+	3	4135	c.3597A>G	c.(3595-3597)ccA>ccG	p.P1199P		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1199						intracellular	zinc ion binding			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)			AGACAGTTCCAGTTCACCAGC	0.502										HNSCC(36;0.09)			G	88965893	A	G	88965893	2	3	234	1	0	0	0	0	0	0	0	1	18168	175	7	4		4	ZNF804B	7	88965893	Silent	SNP	A	TCGA-32-2638-01A-01D-1495-08	7370936	88965893	70172770	30	16217											
MUC17	140453	broad.mit.edu	37	7	100680859	100680859	+	Silent	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:100680859G>A	uc003uxp.1	+	2	6215	c.6162G>A	c.(6160-6162)acG>acA	p.T2054T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2054	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					TCAGCACTACGCTTGTGGTCA	0.493													A	100680859	G	A	100680859	2	1	234	1	0	0	0	0	0	0	0	1	9974	1074	38	1		1	MUC17	7	100680859	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	11714966	100680859	58457804	31	16218											
TFEC	22797	broad.mit.edu	37	7	115590932	115590932	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:115590932C>T	uc003vhj.2	-	5	764	c.511G>A	c.(511-513)Gat>Aat	p.D171N	TFEC_uc003vhm.2_Missense_Mutation_p.D104N|TFEC_uc003vhk.2_Missense_Mutation_p.D142N|TFEC_uc003vhl.4_Missense_Mutation_p.D142N|TFEC_uc011kmw.2_Missense_Mutation_p.D261N	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	171	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTCACGGATCATTAGACTTT	0.323													T	115590932	C	T	115590932	3	4	234	1	0	0	0	0	1	0	0	0	15799	826	29	3	544	3	TFEC	7	115590932	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	14910073	115590932	43547731	32	16219											
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr9:21971029C>T	uc003zpk.3	-	1	635	c.329G>A	c.(328-330)tGg>tAg	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.W110*|CDKN2A_uc003zpl.3_Silent_p.L124L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.W110*(58)|p.?(44)|p.L165L(2)|p.A109V(2)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A109T(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.A109A(1)|p.W110fs*36(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21971029	C	T	21971029	4	4	234	1	0	0	0	0	0	1	0	0	3161	595	21	3	149	3	CDKN2A	9	21971029	Nonsense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		21971029	119242402	33	16220											
IKBKAP	8518	broad.mit.edu	37	9	111659518	111659518	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr9:111659518C>A	uc004bdm.4	-	22	2931	c.2411G>T	c.(2410-2412)aGt>aTt	p.S804I	IKBKAP_uc004bdl.3_Missense_Mutation_p.S455I|IKBKAP_uc011lwc.2_Missense_Mutation_p.S690I|IKBKAP_uc010mtq.3_Missense_Mutation_p.S455I	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	804					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAGGTAGACACTGCTGGTAAC	0.463													A	111659518	C	A	111659518	3	1	234	1	0	0	0	0	1	0	0	0	7610	565	20	5	1647	5	IKBKAP	9	111659518	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	89688489	111659518	29553913	34	16221											
EHMT1	79813	broad.mit.edu	37	9	140638536	140638536	+	Silent	SNP	C	C	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr9:140638536C>A	uc011mfc.2	+	5	1201	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	EHMT1_uc004coa.3_Silent_p.A388A|EHMT1_uc004cob.1_Silent_p.A357A	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	388			A -> T (in dbSNP:rs11137198).		DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.S387S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGATCGCGCCCAGAAGGTAT	0.567													A	140638536	C	A	140638536	2	1	234	1	0	0	0	0	0	0	0	1	4983	610	22	5		5	EHMT1	9	140638536	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	28979018	140638536	574895	35	16222											
KIAA1462	57608	broad.mit.edu	37	10	30336587	30336587	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr10:30336587G>A	uc009xle.2	-	1	292	c.155C>T	c.(154-156)gCg>gTg	p.A52V	KIAA1462_uc001iux.3_Missense_Mutation_p.A52V|KIAA1462_uc001iuy.3_Missense_Mutation_p.A52V|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	52										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						TGCGAGGGCCGCAGGGCCATC	0.677													A	30336587	G	A	30336587	3	1	234	1	0	0	0	0	1	0	0	0	8234	1087	38	1	3936	1	KIAA1462	10	30336587	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		30336587	105198160	36	16223											
OR51T1	401665	broad.mit.edu	37	11	4904033	4904033	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:4904033C>T	uc010qyp.2	+	0	985	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	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)		CAAGACAATCCGCCAGGCTAT	0.488													T	4904033	C	T	4904033	3	4	234	1	0	0	0	0	1	0	0	0	11106	652	23	2	987	2	OR51T1	11	4904033	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		4904033	130102483	37	16224											
OR52H1	390067	broad.mit.edu	37	11	5565836	5565836	+	Missense_Mutation	SNP	C	C	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:5565836C>A	uc010qzh.2	-	0	918	c.918G>T	c.(916-918)caG>caT	p.Q306H	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCTCTGATCTGCTTGGTCT	0.403													A	5565836	C	A	5565836	3	1	234	1	0	0	0	0	1	0	0	0	11119	912	32	5	47	5	OR52H1	11	5565836	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	661803	5565836	129440680	38	16225											
TRIM22	10346	broad.mit.edu	37	11	5730417	5730417	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:5730417G>A	uc001mbr.3	+	7	1415	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.G174S|TRIM22_uc009yes.3_Missense_Mutation_p.G342S|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	346	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			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)		TGGTGTCTTCGGCTGCCAATA	0.408													A	5730417	G	A	5730417	3	1	234	1	0	0	0	0	1	0	0	0	16493	1116	39	2	1062	2	TRIM22	11	5730417	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	164581	5730417	129276099	39	16226											
MPEG1	219972	broad.mit.edu	37	11	58978683	58978683	+	Silent	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:58978683C>T	uc001nnu.4	-	0	1812	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	552			P -> L (in dbSNP:rs7926933).			integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTTTCAGAGACGGTGCCCCTA	0.567													T	58978683	C	T	58978683	2	4	234	1	0	0	0	0	0	0	0	1	9723	523	19	1		1	MPEG1	11	58978683	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	53248266	58978683	76027833	40	16227											
KRTAP5-9	3846	broad.mit.edu	37	11	71260048	71260048	+	Silent	SNP	T	T	C			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:71260048T>C	uc001oqs.1	+	0	583	c.345T>C	c.(343-345)tgT>tgC	p.C115C		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	115	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GTAAGCCCTGTTGCTCCTCCT	0.622													C	71260048	T	C	71260048	2	2	234	1	0	0	0	0	0	0	0	1	8568	1731	60	4		4	KRTAP5-9	11	71260048	Silent	SNP	T	TCGA-32-2638-01A-01D-1495-08	12281365	71260048	63746468	41	16228											
NCAM1	4684	broad.mit.edu	37	11	113103495	113103496	+	Frame_Shift_Ins	INS	-	-	CATTGGGC			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:113103495_113103496insCATTGGGC	uc021qqp.1	+	12	1925_1926	c.1553_1554insCATTGGGC	c.(1552-1554)cgcfs	p.R518fs	NCAM1_uc001pnp.3_Frame_Shift_Ins_p.R482fs|NCAM1_uc021qqo.1_Frame_Shift_Ins_p.R482fs|NCAM1_uc001pnq.3_Frame_Shift_Ins_p.R492fs|NCAM1_uc001pnr.3_Frame_Shift_Ins_p.R482fs	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	494	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				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)		GCAGTGAACCGCATTGGGCAGG	0.51													CATTGGGC	113103496	-	CATTGGGC	113103495	7	5	234	1	0	1	1	0	0	0	0	0	10202	1087	38	0	1528	0	NCAM1	11	113103495	Frame_Shift_Ins	INS	-	TCGA-32-2638-01A-01D-1495-08	41843447	113103495	21903021	42	16229											
SIK3	23387	broad.mit.edu	37	11	116732043	116732043	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:116732043C>T	uc001ppy.3	-	17	2090	c.2054G>A	c.(2053-2055)aGg>aAg	p.R685K	SIK3_uc001ppz.3_Missense_Mutation_p.R584K|SIK3_uc001pqa.3_Missense_Mutation_p.R685K|SIK3_uc001ppw.3_Missense_Mutation_p.R102K|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_5'UTR	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	685	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ACTGGGCTGCCTGAAGAGATG	0.493											OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	116732043	C	T	116732043	3	4	234	1	0	0	0	0	1	0	0	0	14319	681	24	3	1761	3	SIK3	11	116732043	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	3628548	116732043	18274473	43	16230											
TMPRSS4	56649	broad.mit.edu	37	11	117985628	117985628	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:117985628C>T	uc021qrd.1	+	9	1286	c.995C>T	c.(994-996)aCg>aTg	p.T332M	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.T327M|TMPRSS4_uc010rxo.2_Missense_Mutation_p.T330M|TMPRSS4_uc010rxs.2_Missense_Mutation_p.T292M|TMPRSS4_uc010rxq.2_Missense_Mutation_p.T185M|TMPRSS4_uc010rxr.2_Missense_Mutation_p.T307M|TMPRSS4_uc010rxt.2_Missense_Mutation_p.T307M	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	332	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGGGGCTTTACGAAGCAGAAT	0.572													T	117985628	C	T	117985628	3	4	234	1	0	0	0	0	1	0	0	0	16246	536	19	1	1033	1	TMPRSS4	11	117985628	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	1253585	117985628	17020888	44	16231											
TECTA	7007	broad.mit.edu	37	11	121037459	121037459	+	Silent	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:121037459C>T	uc010rzo.2	+	16	5556	c.5556C>T	c.(5554-5556)aaC>aaT	p.N1852N		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1852	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGATCAACAACACCAAAGGGA	0.498													T	121037459	C	T	121037459	2	4	234	1	0	0	0	0	0	0	0	1	15744	477	17	3		3	TECTA	11	121037459	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	3051831	121037459	13969057	45	16232											
CLEC12A	160364	broad.mit.edu	37	12	10132026	10132026	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr12:10132026G>T	uc001qwq.3	+	3	343	c.312G>T	c.(310-312)atG>atT	p.M104I	CLEC12A_uc001qwr.4_Missense_Mutation_p.M94I|CLEC12A_uc001qws.4_Missense_Mutation_p.M61I|CLEC12A_uc001qwt.3_Missense_Mutation_p.M23I	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN	Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.	94						integral to membrane|plasma membrane	receptor activity|sugar binding	p.M104I(1)|p.M94I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TACAACTGATGAGTAACATGA	0.363													T	10132026	G	T	10132026	3	4	234	1	0	0	0	0	1	0	0	0	3497	1290	45	5	292	5	CLEC12A	12	10132026	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		10132026	123719869	46	16233											
ITGB7	3695	broad.mit.edu	37	12	53590523	53590523	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr12:53590523C>T	uc009zmv.3	-	4	727	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	ITGB7_uc001scc.3_Missense_Mutation_p.R219Q|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_3'UTR	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	219	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGCTCCAGCCGGGTGGGGCA	0.617													T	53590523	C	T	53590523	3	4	234	1	0	0	0	0	1	0	0	0	7900	652	23	2	1784	2	ITGB7	12	53590523	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	43458497	53590523	80261372	47	16234											
ACACB	32	broad.mit.edu	37	12	109609642	109609642	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr12:109609642G>A	uc001tob.3	+	4	1077	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	ACACB_uc001toc.3_Missense_Mutation_p.V320I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	320	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTACGTCCCCGTCCCAGGAGG	0.502													A	109609642	G	A	109609642	3	1	234	1	0	0	0	0	1	0	0	0	107	1145	40	1	972	1	ACACB	12	109609642	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	56019119	109609642	24242253	48	16235											
XPO4	64328	broad.mit.edu	37	13	21362729	21362729	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr13:21362729delG	uc001unq.4	-	19	2979	c.2943delC	c.(2941-2943)tacfs	p.Y981fs		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	981					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGATTAATTTGTAGTACTGAT	0.299													-	21362729	G	-	21362729	7	5	234	1	0	1	0	1	0	0	0	0	17443	1372	48	0	528	0	XPO4	13	21362729	Frame_Shift_Del	DEL	G	TCGA-32-2638-01A-01D-1495-08		21362729	93807149	49	16236											
KCTD12	115207	broad.mit.edu	37	13	77459429	77459429	+	Silent	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr13:77459429G>A	uc001vka.1	-	0	1112	c.855C>T	c.(853-855)tcC>tcT	p.S285S	KCTD12_uc010aeu.1_Silent_p.S285S	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 12 (KCTD12), mRNA.	285						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		AGCCCGACTCGGACAGCTTGT	0.637											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	77459429	G	A	77459429	2	1	234	1	0	0	0	0	0	0	0	1	8099	1103	39	2		2	KCTD12	13	77459429	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	56096700	77459429	37710449	50	16237											
KCNH5	27133	broad.mit.edu	37	14	63447809	63447809	+	Silent	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr14:63447809C>T	uc001xfx.3	-	5	774	c.723G>A	c.(721-723)aaG>aaA	p.K241K	KCNH5_uc001xfy.3_Silent_p.K241K|KCNH5_uc001xfz.1_Silent_p.K183K|KCNH5_uc001xga.3_Silent_p.K183K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	241					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.K241K(4)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTTGTTCTGCTTTGTTTTGA	0.398													T	63447809	C	T	63447809	2	4	234	1	0	0	0	0	0	0	0	1	8035	796	28	3		3	KCNH5	14	63447809	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08		63447809	43901731	51	16238											
SERPINA9	327657	broad.mit.edu	37	14	94933658	94933658	+	Silent	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr14:94933658G>A	uc001ydf.3	-	2	905	c.744C>T	c.(742-744)ggC>ggT	p.G248G	SERPINA9_uc001yde.3_Silent_p.G148G|SERPINA9_uc010avc.3_Silent_p.G99G|SERPINA9_uc001ydg.3_Silent_p.G212G|SERPINA9_uc001ydh.1_Silent_p.G248G|SERPINA9_uc001ydi.1_Silent_p.G212G	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	230					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGACCTGCTCGCCCACCAGGA	0.473													A	94933658	G	A	94933658	2	1	234	1	0	0	0	0	0	0	0	1	14095	1074	38	1		1	SERPINA9	14	94933658	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	31485849	94933658	12415882	52	16239											
TMCO5A	145942	broad.mit.edu	37	15	38239874	38239874	+	Missense_Mutation	SNP	G	G	C			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr15:38239874G>C	uc001zjw.3	+	9	747	c.645G>C	c.(643-645)aaG>aaC	p.K215N	TMCO5A_uc001zjv.1_Missense_Mutation_p.K215N	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	215						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CTACCCAAAAGACAGCAAGAT	0.348													C	38239874	G	C	38239874	3	2	234	1	0	0	0	0	1	0	0	0	15996	933	33	5	679	5	TMCO5A	15	38239874	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		38239874	64291518	53	16240											
SRRM2	23524	broad.mit.edu	37	16	2812739	2812739	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr16:2812739C>T	uc002crk.3	+	10	2759	c.2210C>T	c.(2209-2211)tCt>tTt	p.S737F	SRRM2_uc002crj.1_Missense_Mutation_p.S641F|SRRM2_uc002crl.1_Missense_Mutation_p.S737F|SRRM2_uc010bsu.1_Missense_Mutation_p.S641F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	737	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCAGAACATCTCAAAGAAGA	0.448													T	2812739	C	T	2812739	3	4	234	1	0	0	0	0	1	0	0	0	15168	913	32	3	2248	3	SRRM2	16	2812739	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		2812739	87542014	54	16241											
VPS53	55275	broad.mit.edu	37	17	440383	440383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:440383G>A	uc010cjo.2	-	17	2047	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	VPS53_uc002frk.3_Nonsense_Mutation_p.Q153*|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Nonsense_Mutation_p.Q605*|VPS53_uc002frn.2_Nonsense_Mutation_p.Q634*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q436*|VPS53_uc010cjp.1_Nonsense_Mutation_p.Q357*	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	634					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TAGGGGCTCTGGTCACCAACG	0.547													A	440383	G	A	440383	4	1	234	1	0	0	0	0	0	1	0	0	17212	1357	47	3	633	3	VPS53	17	440383	Nonsense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		440383	80754827	55	16242											
GSDMB	55876	broad.mit.edu	37	17	38062400	38062400	+	Silent	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:38062400G>A	uc010cwj.3	-	7	983	c.852C>T	c.(850-852)ctC>ctT	p.L284L	GSDMB_uc010cwi.3_Silent_p.L31L|GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Silent_p.L262L|GSDMB_uc002hth.3_Silent_p.L271L|GSDMB_uc010wem.2_Silent_p.L275L	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	279						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CCTCCTTGCCGAGGCACTTAG	0.522													A	38062400	G	A	38062400	2	1	234	1	0	0	0	0	0	0	0	1	6817	1045	37	2		2	GSDMB	17	38062400	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	37622017	38062400	43132810	56	16243											
ITGA3	3675	broad.mit.edu	37	17	48156217	48156217	+	Missense_Mutation	SNP	G	G	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:48156217G>A	uc010dbm.3	+	18	2791	c.2327G>A	c.(2326-2328)gGg>gAg	p.G776E	ITGA3_uc010dbl.3_Missense_Mutation_p.G776E	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	776					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AGCTTCTTTGGGGGGACAGTG	0.582													A	48156217	G	A	48156217	3	1	234	1	0	0	0	0	1	0	0	0	7877	1232	43	3	2401	3	ITGA3	17	48156217	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	10093817	48156217	33038993	57	16244											
ANKRD40	91369	broad.mit.edu	37	17	48776813	48776813	+	Missense_Mutation	SNP	G	G	A	rs148279576		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:48776813G>A	uc002iso.3	-	2	980	c.725C>T	c.(724-726)gCg>gTg	p.A242V		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.	242	Pro-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GAATGCTGGCGCTGGTCCTGC	0.522													A	48776813	G	A	48776813	3	1	234	1	0	0	0	0	1	0	0	0	669	1087	38	1	393	1	ANKRD40	17	48776813	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	620596	48776813	32418397	58	16245											
COIL	8161	broad.mit.edu	37	17	55027963	55027963	+	Missense_Mutation	SNP	G	G	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:55027963G>T	uc002iuu.3	-	1	671	c.640C>A	c.(640-642)Cag>Aag	p.Q214K		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	214						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTACATCTCTGATTGGCCCAG	0.403													T	55027963	G	T	55027963	3	4	234	1	0	0	0	0	1	0	0	0	3665	1299	45	5	1114	5	COIL	17	55027963	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	6251150	55027963	26167247	59	16246											
ABCA9	10350	broad.mit.edu	37	17	66981088	66981088	+	Silent	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:66981088C>T	uc002jhu.3	-	33	4460	c.4317G>A	c.(4315-4317)ccG>ccA	p.P1439P	ABCA9_uc010dez.3_Silent_p.P1401P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1439	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.P1439P(2)|p.P1439Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCACCACTGACGGGTTCCCCA	0.587													T	66981088	C	T	66981088	2	4	234	1	0	0	0	0	0	0	0	1	39	523	19	1		1	ABCA9	17	66981088	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	11953125	66981088	14214122	60	16247											
SETBP1	26040	broad.mit.edu	37	18	42529847	42529847	+	Missense_Mutation	SNP	C	C	G			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr18:42529847C>G	uc010dni.3	+	4	837	c.541_splice	c.e4-1	p.A181_splice		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	181						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACCCTTAGGCTTACGAGAGG	0.468									Schinzel-Giedion syndrome				G	42529847	C	G	42529847	3	3	234	1	0	0	0	0	1	0	0	0	14129	811	28	5	745	5	SETBP1	18	42529847	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		42529847	35547401	61	16248											
SLC14A1	6563	broad.mit.edu	37	18	43310353	43310353	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr18:43310353C>T	uc010dnk.3	+	3	458	c.236C>T	c.(235-237)tCg>tTg	p.S79L	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.S23L|SLC14A1_uc002lbf.4_Missense_Mutation_p.S23L|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.S79L|SLC14A1_uc002lbk.4_Missense_Mutation_p.S23L|SLC14A1_uc021ujg.1_Missense_Mutation_p.S23L	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	23						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AACCAGGTTTCGCCATGTCAA	0.507													T	43310353	C	T	43310353	3	4	234	1	0	0	0	0	1	0	0	0	14396	893	31	2	242	2	SLC14A1	18	43310353	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	780506	43310353	34766895	62	16249											
SF3A2	8175	broad.mit.edu	37	19	2248259	2248260	+	Frame_Shift_Ins	INS	-	-	G			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr19:2248259_2248260insG	uc002lvg.3	+	8	1231_1232	c.1109_1110insG	c.(1108-1110)gcgfs	p.A370fs	AMH_uc002lvh.2_5'Flank|AMH_uc021umr.1_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	370	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		CCCCCATCAGCGGGGGTTCACC	0.748													G	2248260	-	G	2248259	7	5	234	1	0	1	1	0	0	0	0	0	14147	768	27	0	1139	0	SF3A2	19	2248259	Frame_Shift_Ins	INS	-	TCGA-32-2638-01A-01D-1495-08		2248259	56880724	63	16250											
LRRC8E	80131	broad.mit.edu	37	19	7965735	7965735	+	Silent	SNP	G	G	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr19:7965735G>T	uc002mir.3	+	2	2429	c.2328G>T	c.(2326-2328)ctG>ctT	p.L776L		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	776						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGGGGCTCCTGGTGGAAGACA	0.597													T	7965735	G	T	7965735	2	4	234	1	0	0	0	0	0	0	0	1	9025	1335	47	5		5	LRRC8E	19	7965735	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	5717476	7965735	51163248	64	16251											
MUC16	94025	broad.mit.edu	37	19	9072143	9072143	+	Silent	SNP	T	T	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr19:9072143T>A	uc002mkp.3	-	2	15507	c.15303A>T	c.(15301-15303)tcA>tcT	p.S5101S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5103	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						GTATCTTATCTGAGGTGCTGC	0.423													A	9072143	T	A	9072143	2	1	234	1	0	0	0	0	0	0	0	1	9973	1567	55	5		5	MUC16	19	9072143	Silent	SNP	T	TCGA-32-2638-01A-01D-1495-08	1106408	9072143	50056840	65	16252											
CRKL	1399	broad.mit.edu	37	22	21272527	21272527	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:21272527C>T	uc002ztf.2	+	0	814	c.305C>T	c.(304-306)gCg>gTg	p.A102V		NM_005207	NP_005198	P46109	CRKL_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA.	102	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ATCGAGCCTGCGCCCAGGTAC	0.607													T	21272527	C	T	21272527	3	4	234	1	0	0	0	0	1	0	0	0	3885	768	27	1	307	1	CRKL	22	21272527	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		21272527	30032039	66	16253											
MTMR3	8897	broad.mit.edu	37	22	30413988	30413988	+	Missense_Mutation	SNP	A	A	G			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:30413988A>G	uc003agv.4	+	15	2075	c.1747A>G	c.(1747-1749)Acc>Gcc	p.T583A	MTMR3_uc003agu.4_Missense_Mutation_p.T583A|MTMR3_uc003agw.4_Missense_Mutation_p.T583A	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	583					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCCATCCCCAACCACCCCTGT	0.632													G	30413988	A	G	30413988	3	3	234	1	0	0	0	0	1	0	0	0	9945	43	2	4	1801	4	MTMR3	22	30413988	Missense_Mutation	SNP	A	TCGA-32-2638-01A-01D-1495-08	9141461	30413988	20890578	67	16254											
SLC5A4	6527	broad.mit.edu	37	22	32626981	32626981	+	Missense_Mutation	SNP	G	G	A	rs150200210		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:32626981G>A	uc003ami.3	-	9	1105	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	368					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCACCATCGTGGGGTATGC	0.537													A	32626981	G	A	32626981	3	1	234	1	0	0	0	0	1	0	0	0	14667	1145	40	1	900	1	SLC5A4	22	32626981	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	2212993	32626981	18677585	68	16255											
MKL1	57591	broad.mit.edu	37	22	40814904	40814904	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:40814904C>T	uc003ayv.1	-	8	1745	c.1538G>A	c.(1537-1539)gGg>gAg	p.G513E	MKL1_uc010gyf.1_Missense_Mutation_p.G463E|MKL1_uc003ayw.1_Missense_Mutation_p.G513E|MKL1_uc010gye.1_Missense_Mutation_p.G513E	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	513					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGCCCGCCCCCCAGGGCTCAG	0.672			T	RBM15	acute megakaryocytic leukemia								T	40814904	C	T	40814904	3	4	234	1	0	0	0	0	1	0	0	0	9601	623	22	3	1273	3	MKL1	22	40814904	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	8187923	40814904	10489662	69	16256											
TEF	7008	broad.mit.edu	37	22	41790269	41790269	+	Silent	SNP	C	C	A			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:41790269C>A	uc011apa.2	+	2	746	c.660C>A	c.(658-660)ccC>ccA	p.P220P	TEF_uc003azx.3_Silent_p.P185P|TEF_uc021wqe.1_Silent_p.P109P|TEF_uc003azy.3_Silent_p.P215P	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	215					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCTGAAGCCCCAGCCTATGA	0.547													A	41790269	C	A	41790269	2	1	234	1	0	0	0	0	0	0	0	1	15747	610	22	5		5	TEF	22	41790269	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	975365	41790269	9514297	70	16257											
OTUD6A	139562	broad.mit.edu	37	X	69283226	69283226	+	Silent	SNP	C	C	G			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chrX:69283226C>G	uc004dxu.1	+	0	886	c.852C>G	c.(850-852)ctC>ctG	p.L284L		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	284										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GGGGCGTGCTCCCGCGTCTCC	0.637													G	69283226	C	G	69283226	2	3	234	1	0	0	0	0	0	0	0	1	11316	842	30	5		5	OTUD6A	23	69283226	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08		69283226	85987334	71	16258											
GLUD2	2747	broad.mit.edu	37	X	120181603	120181603	+	Missense_Mutation	SNP	C	C	T			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chrX:120181603C>T	uc004eto.3	+	0	142	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	22					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTGGGCTCCGCGGCCAACCAC	0.786													T	120181603	C	T	120181603	3	4	234	1	0	0	0	0	1	0	0	0	6477	768	27	1	67	1	GLUD2	23	120181603	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	50898377	120181603	35088957	72	16259											
MFN2	9927	broad.mit.edu	37	1	12052619	12052619	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:12052619C>G	uc001atn.4	+	3	636	c.183C>G	c.(181-183)taC>taG	p.Y61*	MFN2_uc009vni.3_Nonsense_Mutation_p.Y61*	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	61					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGACACGTACAGGAATGCAG	0.562													G	12052619	C	G	12052619	4	3	235	1	0	0	0	0	0	1	0	0	9524	489	17	5	189	5	MFN2	1	12052619	Nonsense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		12052619	237198002	1	16260											
JAK1	3716	broad.mit.edu	37	1	65313353	65313353	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:65313353C>A	uc001dbu.1	-	12	2010	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	JAK1_uc009wam.1_Missense_Mutation_p.E587D|JAK1_uc009wal.1_5'Flank	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	587	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCCCAAGGTGCTCGCCCTGAG	0.507			Mis		ALL								A	65313353	C	A	65313353	3	1	235	1	0	0	0	0	1	0	0	0	7937	796	28	5	1755	5	JAK1	1	65313353	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	53260734	65313353	183937268	2	16261											
EPHX4	253152	broad.mit.edu	37	1	92515977	92515977	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:92515977G>C	uc001don.2	+	5	812	c.708_splice	c.e5+1	p.K236_splice		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	236						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ATGATTTCAAGGTAAGCCAAA	0.269													C	92515977	G	C	92515977	3	2	235	1	0	0	0	0	1	0	0	0	5182	1014	35	5	726	5	EPHX4	1	92515977	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	27202624	92515977	156734644	3	16262											
EXTL2	2135	broad.mit.edu	37	1	101339636	101339636	+	Silent	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:101339636A>G	uc001dtk.1	-	4	1192	c.855T>C	c.(853-855)caT>caC	p.H285H	EXTL2_uc001dtl.1_Silent_p.H285H|EXTL2_uc010ouk.1_Silent_p.H272H|EXTL2_uc001dtm.1_Silent_p.H284H	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	Homo sapiens exostoses (multiple)-like 2 (EXTL2), transcript variant 1, mRNA.	285					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	p.W284*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GCTCAGCTCGATGCCACATTC	0.398													G	101339636	A	G	101339636	2	3	235	1	0	0	0	0	0	0	0	1	5326	330	12	4		4	EXTL2	1	101339636	Silent	SNP	A	TCGA-32-4208-01A-01D-1353-08	8823659	101339636	147910985	4	16263											
NUP210L	91181	broad.mit.edu	37	1	154125256	154125256	+	Missense_Mutation	SNP	G	G	C	rs150389273	by1000genomes	TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:154125256G>C	uc001fdw.3	-	1	368	c.296C>G	c.(295-297)aCg>aGg	p.T99R	NUP210L_uc010peh.2_Missense_Mutation_p.T99R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	99						integral to membrane		p.T99T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATCGGTTGCGTAGATTCAGC	0.423													C	154125256	G	C	154125256	3	2	235	1	0	0	0	0	1	0	0	0	10761	1145	40	5	5526	5	NUP210L	1	154125256	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	52785620	154125256	95125365	5	16264											
HMCN1	83872	broad.mit.edu	37	1	185878606	185878606	+	Silent	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:185878606G>A	uc001grq.1	+	4	988	c.759G>A	c.(757-759)ggG>ggA	p.G253G		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	253					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						CTTTGAGTGGGCCTTCTCCAA	0.363													A	185878606	G	A	185878606	2	1	235	1	0	0	0	0	0	0	0	1	7220	1190	42	3		3	HMCN1	1	185878606	Silent	SNP	G	TCGA-32-4208-01A-01D-1353-08	31753350	185878606	63372015	6	16265											
CACNA1S	779	broad.mit.edu	37	1	201029914	201029914	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:201029914G>T	uc001gvv.3	-	25	3513	c.3286C>A	c.(3286-3288)Cgc>Agc	p.R1096S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1096					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.R1096H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCAGTGGGCGGGCCTTCAGG	0.532													T	201029914	G	T	201029914	3	4	235	1	0	0	0	0	1	0	0	0	2547	1116	39	5	2411	5	CACNA1S	1	201029914	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	15151308	201029914	48220707	7	16266											
EPRS	2058	broad.mit.edu	37	1	220146600	220146600	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:220146600G>C	uc001hly.1	-	28	4494	c.4224C>G	c.(4222-4224)atC>atG	p.I1408M	RNU5F-1_uc021pjd.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	1408	Prolyl-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)	GGGTGACCTGGATGTCTTCCA	0.423													C	220146600	G	C	220146600	3	2	235	1	0	0	0	0	1	0	0	0	5191	1164	41	5	330	5	EPRS	1	220146600	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	19116686	220146600	29104021	8	16267											
IFT172	26160	broad.mit.edu	37	2	27688614	27688614	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:27688614G>A	uc002rku.3	-	17	1880	c.1829_splice	c.e17+1	p.R610_splice		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	610					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCCTCTCACCGGATGTAGTTG	0.537													A	27688614	G	A	27688614	3	1	235	1	0	0	0	0	1	0	0	0	7557	1130	39	2	3549	2	IFT172	2	27688614	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		27688614	215510759	9	16268											
GCC2	9648	broad.mit.edu	37	2	109103075	109103075	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:109103075G>A	uc002tec.3	+	15	4055	c.3901G>A	c.(3901-3903)Gca>Aca	p.A1301T	GCC2_uc002ted.3_Missense_Mutation_p.A1200T	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1301					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.A1301V(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAGTGACAGCACTACAGGA	0.512													A	109103075	G	A	109103075	3	1	235	1	0	0	0	0	1	0	0	0	6286	971	34	3	3963	3	GCC2	2	109103075	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	81414461	109103075	134096298	10	16269											
LRP2	4036	broad.mit.edu	37	2	170026272	170026272	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:170026272T>C	uc002ues.3	-	59	11650	c.11437A>G	c.(11437-11439)Agt>Ggt	p.S3813G		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3813	LDL-receptor class A 33.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCAGTTCACTGTGTACACAA	0.438													C	170026272	T	C	170026272	3	2	235	1	0	0	0	0	1	0	0	0	8956	1580	55	4	2610	4	LRP2	2	170026272	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	60923197	170026272	73173101	11	16270											
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	235	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	39086840	209113112	34086261	12	16271											
RHBDD1	84236	broad.mit.edu	37	2	227729644	227729644	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:227729644T>C	uc021vxo.1	+	3	759	c.235T>C	c.(235-237)Tgg>Cgg	p.W79R	RHBDD1_uc002voi.3_Missense_Mutation_p.W79R|RHBDD1_uc010fxc.3_Missense_Mutation_p.W79R	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	79						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TGCTGATGATTGGCATTTGTA	0.438													C	227729644	T	C	227729644	3	2	235	1	0	0	0	0	1	0	0	0	13316	1812	63	4	237	4	RHBDD1	2	227729644	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	18616532	227729644	15469729	13	16272											
BOK	666	broad.mit.edu	37	2	242509549	242509549	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:242509549delG	uc002wbq.3	+	3	651	c.359delG	c.(358-360)tggfs	p.W120fs	BOK_uc002wbr.3_5'Flank	NM_032515	NP_115904	Q9UMX3	BOK_HUMAN	Homo sapiens BCL2-related ovarian killer (BOK), mRNA.	120					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		GGCATCACGTGGGGCAAGGTG	0.657													-	242509549	G	-	242509549	7	5	235	1	0	1	0	1	0	0	0	0	1484	1357	47	0	369	0	BOK	2	242509549	Frame_Shift_Del	DEL	G	TCGA-32-4208-01A-01D-1353-08	14779905	242509549	689824	14	16273											
TATDN2	9797	broad.mit.edu	37	3	10312062	10312064	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:10312062_10312064delGCA	uc011atr.2	+	3	1777_1779	c.1196_1198delGCA	c.(1195-1200)ggcagc>ggc	p.S402del	TATDN2_uc003bvg.2_In_Frame_Del_p.S402del|TATDN2_uc003bvf.3_In_Frame_Del_p.S402del|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	402						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCCTCCACAGGCAGCAGCAGCAA	0.552													-	10312064	GCA	-	10312062	7	5	235	1	0	1	0	1	0	0	0	0	15589	1203	42	0	1206	0	TATDN2	3	10312062	In_Frame_Del	DEL	GCA	TCGA-32-4208-01A-01D-1353-08		10312062	187710368	15	16274											
DOCK3	1795	broad.mit.edu	37	3	51387773	51387773	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:51387773G>C	uc011bds.2	+	39	4080	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1353	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTGGAGCCTGAGTTCTTTCG	0.448													C	51387773	G	C	51387773	3	2	235	1	0	0	0	0	1	0	0	0	4688	1291	45	5	4215	5	DOCK3	3	51387773	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	41075711	51387773	146634657	16	16275											
TNFSF10	8743	broad.mit.edu	37	3	172232698	172232698	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:172232698T>C	uc003fid.3	-	1	346	c.223A>G	c.(223-225)Agc>Ggc	p.S75G	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.S75G	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	75					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGCAGGGGCTGTTCATACTC	0.498													C	172232698	T	C	172232698	3	2	235	1	0	0	0	0	1	0	0	0	16298	1580	55	4	638	4	TNFSF10	3	172232698	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	120844925	172232698	25789732	17	16276											
SPATA16	83893	broad.mit.edu	37	3	172835032	172835032	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:172835032G>C	uc003fin.4	-	1	674	c.490C>G	c.(490-492)Cat>Gat	p.H164D		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	164					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			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)			CTGAAATTATGTACACTCAAA	0.448													C	172835032	G	C	172835032	3	2	235	1	0	0	0	0	1	0	0	0	15000	1377	48	5	1259	5	SPATA16	3	172835032	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	602334	172835032	25187398	18	16277											
GABRA2	2555	broad.mit.edu	37	4	46252347	46252347	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:46252347G>A	uc011bzc.1	-	9	1761	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	GABRA2_uc003gxc.3_Missense_Mutation_p.P445L|GABRA2_uc010igc.2_Missense_Mutation_p.P445L			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	445					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V449V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCTAATACAGGTTCTCTGTT	0.338													A	46252347	G	A	46252347	3	1	235	1	0	0	0	0	1	0	0	0	6161	1000	35	3	25	3	GABRA2	4	46252347	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		46252347	144901929	19	16278											
FAM175A	84142	broad.mit.edu	37	4	84388619	84388641	+	Frame_Shift_Del	DEL	TTGTAATGAAGCATACATTTCAT	TTGTAATGAAGCATACATTTCAT	-			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:84388619_84388641delTTGTAATGAAGCATACATTTCAT	uc003hou.2	-	6	712_734	c.647_669delATGAAATGTATGCTTCATTACAA	c.(646-669)aatgaaatgtatgcttcattacaafs	p.N216fs	FAM175A_uc003hot.2_Frame_Shift_Del_p.N44fs|FAM175A_uc003hov.2_Frame_Shift_Del_p.N107fs	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	Homo sapiens family with sequence similarity 175, member A (FAM175A), mRNA.	216					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTAATTCCTCTTGTAATGAAGCATACATTTCATTTATCTTATG	0.309													-	84388641	TTGTAATGAAGCATACATTTCAT	-	84388619	7	5	235	1	0	1	0	1	0	0	0	0	5497	1606	56	0	572	0	FAM175A	4	84388619	Frame_Shift_Del	DEL	TTGTAATGAAGCATACATTTCAT	TCGA-32-4208-01A-01D-1353-08	38136272	84388619	106765657	20	16279											
SEC24B	10427	broad.mit.edu	37	4	110442579	110442579	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:110442579A>G	uc003hzk.3	+	13	2360	c.2305A>G	c.(2305-2307)Ata>Gta	p.I769V	SEC24B_uc003hzl.3_Missense_Mutation_p.I734V|SEC24B_uc011cfp.2_Missense_Mutation_p.I799V|SEC24B_uc011cfq.2_Missense_Mutation_p.I768V|SEC24B_uc011cfr.2_Missense_Mutation_p.I733V	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	769					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTCAGCTTATAAAAGACTT	0.343													G	110442579	A	G	110442579	3	3	235	1	0	0	0	0	1	0	0	0	13995	449	16	4	2359	4	SEC24B	4	110442579	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	26053960	110442579	80711697	21	16280											
MYOZ2	51778	broad.mit.edu	37	4	120085521	120085521	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:120085521G>C	uc003icp.4	+	4	745	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	178							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGGAAAGGCAGAACTGCCTGA	0.418													C	120085521	G	C	120085521	3	2	235	1	0	0	0	0	1	0	0	0	10096	943	33	5	546	5	MYOZ2	4	120085521	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	9642942	120085521	71068755	22	16281											
PCDHAC2	56144	broad.mit.edu	37	5	140189035	140189035	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr5:140189035A>G	uc003lhi.2	+	0	2364	c.2263A>G	c.(2263-2265)Agg>Ggg	p.R755G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R755G|PCDHAC2_uc011daa.2_Missense_Mutation_p.R755G	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	792					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCAGAGGAGGCCGAGGGT	0.662													G	140189035	A	G	140189035	3	3	235	1	0	0	0	0	1	0	0	0	11533	295	11	4		4	PCDHAC2	5	140189035	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08		140189035	40726225	23	16282											
CLK4	57396	broad.mit.edu	37	5	178040532	178040532	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr5:178040532C>T	uc003mjf.1	-	6	876	c.768G>A	c.(766-768)ctG>ctA	p.L256L	CLK4_uc003mjg.1_Silent_p.L220L|CLK4_uc010jku.1_Silent_p.L76L|CLK4_uc003mjh.1_Silent_p.L76L|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Silent_p.L256L|CLK4_uc011dgh.1_Silent_p.L76L	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	256	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|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)	all cancers(165;0.235)		TTTGAAATGGCAGAAAGCTGT	0.328													T	178040532	C	T	178040532	2	4	235	1	0	0	0	0	0	0	0	1	3539	697	25	3		3	CLK4	5	178040532	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	37851497	178040532	2874728	24	16283											
KIF13A	63971	broad.mit.edu	37	6	17831467	17831467	+	Splice_Site	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:17831467C>A	uc003ncg.4	-	13	1427	c.1267_splice	c.e13-1	p.E423_splice	KIF13A_uc003ncf.3_Splice_Site_p.E423_splice|KIF13A_uc003nch.4_Splice_Site_p.E423_splice|KIF13A_uc003nci.4_Splice_Site_p.E423_splice|KIF13A_uc003ncj.3_Splice_Site_p.E99_splice	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	423					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTGTCTTTCCTGTGCACAAA	0.438													A	17831467	C	A	17831467	5	1	235	1	0	0	0	0	0	0	1	0	8274	695	24	5	4284	5	KIF13A	6	17831467	Splice_Site	SNP	C	TCGA-32-4208-01A-01D-1353-08		17831467	153283600	25	16284											
BTNL2	56244	broad.mit.edu	37	6	32370963	32370963	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:32370963T>C	uc003obg.1	-	2	458	c.458A>G	c.(457-459)gAg>gGg	p.E153G	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	153	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCCAGGTCCCTCCATGTGGAT	0.607													C	32370963	T	C	32370963	3	2	235	1	0	0	0	0	1	0	0	0	1565	1551	54	4	925	4	BTNL2	6	32370963	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	14539496	32370963	138744104	26	16285											
DEF6	50619	broad.mit.edu	37	6	35280172	35280172	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:35280172G>A	uc003okk.3	+	3	556	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	DEF6_uc010jvs.3_Missense_Mutation_p.A173T|DEF6_uc010jvt.3_Intron	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	173						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGCCCAGGTGGCCCAGACCAC	0.647													A	35280172	G	A	35280172	3	1	235	1	0	0	0	0	1	0	0	0	4386	1203	42	3	531	3	DEF6	6	35280172	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	2909209	35280172	135834895	27	16286											
PKHD1	5314	broad.mit.edu	37	6	51799070	51799070	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:51799070C>T	uc003pah.1	-	36	6235	c.5959G>A	c.(5959-5961)Gcc>Acc	p.A1987T	PKHD1_uc010jzn.1_Missense_Mutation_p.A12T|PKHD1_uc003pai.3_Missense_Mutation_p.A1987T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1987	G8 1.				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.A1987T(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)					ACAAGGATGGCGTGTGCCCTG	0.542											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	51799070	C	T	51799070	3	4	235	1	0	0	0	0	1	0	0	0	11971	768	27	1	6428	1	PKHD1	6	51799070	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	16518898	51799070	119315997	28	16287											
MTHFD1L	25902	broad.mit.edu	37	6	151336802	151336802	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:151336802C>T	uc021zgs.1	+	23	2706	c.2562C>T	c.(2560-2562)agC>agT	p.S854S	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.S853S|MTHFD1L_uc021zgt.1_Silent_p.S788S|MTHFD1L_uc003qoc.3_Silent_p.S801S	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	853	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			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)		GTAAAAGAAGCCGATTCCAGT	0.493													T	151336802	C	T	151336802	2	4	235	1	0	0	0	0	0	0	0	1	9928	738	26	3		3	MTHFD1L	6	151336802	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	99537732	151336802	19778265	29	16288											
ADAP1	11033	broad.mit.edu	37	7	943765	943765	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:943765T>C	uc003sjo.4	-	5	839	c.646A>G	c.(646-648)Aag>Gag	p.K216E	ADAP1_uc003sjm.4_Missense_Mutation_p.K42E|ADAP1_uc011jvs.2_Missense_Mutation_p.K121E|ADAP1_uc003sjn.4_Missense_Mutation_p.K144E|ADAP1_uc010ksc.3_Missense_Mutation_p.K144E	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	216	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GCACCCACCTTCCCGTCCTCA	0.672													C	943765	T	C	943765	3	2	235	1	0	0	0	0	1	0	0	0	279	1792	62	4	502	4	ADAP1	7	943765	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		943765	158194898	30	16289											
ZMIZ2	83637	broad.mit.edu	37	7	44798997	44798997	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:44798997C>T	uc003tlr.3	+	6	1054	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P279S|ZMIZ2_uc003tls.3_Missense_Mutation_p.P311S|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	311	Pro-rich.				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			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						GCACAGGCTGCCCCTGCAGCA	0.687													T	44798997	C	T	44798997	3	4	235	1	0	0	0	0	1	0	0	0	17694	739	26	3	953	3	ZMIZ2	7	44798997	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	43855232	44798997	114339666	31	16290											
CLIP2	7461	broad.mit.edu	37	7	73790959	73790959	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:73790959G>C	uc003uam.3	+	9	2555	c.2228G>C	c.(2227-2229)cGg>cCg	p.R743P	CLIP2_uc003uan.3_Missense_Mutation_p.R708P|CLIP2_uc003uao.3_Missense_Mutation_p.R137P	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	743						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GTGGAGTACCGGGGCCAGGCG	0.657													C	73790959	G	C	73790959	3	2	235	1	0	0	0	0	1	0	0	0	3533	1116	39	5	2262	5	CLIP2	7	73790959	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	28991962	73790959	85347704	32	16291											
OPN1SW	611	broad.mit.edu	37	7	128415066	128415066	+	Silent	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:128415066G>T	uc003vnt.4	-	1	495	c.495C>A	c.(493-495)tcC>tcA	p.S165S		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	165					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGGGTGGGATGGAGACGCCAA	0.552													T	128415066	G	T	128415066	2	4	235	1	0	0	0	0	0	0	0	1	10880	1335	47	5		5	OPN1SW	7	128415066	Silent	SNP	G	TCGA-32-4208-01A-01D-1353-08	54624107	128415066	30723597	33	16292											
ABCF2	10061	broad.mit.edu	37	7	150915908	150915908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:150915908G>A	uc003wjo.1	-	8	1180	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	ABCF2_uc003wjp.3_Nonsense_Mutation_p.Q357*	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	357						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTTGCTCTGGGCCTGCCGG	0.527													A	150915908	G	A	150915908	4	1	235	1	0	0	0	0	0	1	0	0	66	1357	47	3	871	3	ABCF2	7	150915908	Nonsense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	22500842	150915908	8222755	34	16293											
RAB11FIP1	80223	broad.mit.edu	37	8	37730590	37730590	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:37730590G>T	uc003xkm.2	-	3	1786	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	577	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAATTCAGAGGGGACAGATGC	0.557													T	37730590	G	T	37730590	3	4	235	1	0	0	0	0	1	0	0	0	12893	1232	43	5	2133	5	RAB11FIP1	8	37730590	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		37730590	108633432	35	16294											
RALYL	138046	broad.mit.edu	37	8	85774532	85774532	+	Silent	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:85774532T>C	uc003yct.4	+	6	587	c.453_splice	c.e6-1	p.R151_splice	RALYL_uc003ycq.4_Splice_Site_p.R138_splice|RALYL_uc003ycr.4_Splice_Site_p.R138_splice|RALYL_uc003ycs.4_Splice_Site_p.R138_splice|RALYL_uc010lzy.3_Splice_Site_p.R127_splice|RALYL_uc003ycu.4_Splice_Site_p.R65_splice	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	138							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTTGTAAAGGTTATTTGATTA	0.473													C	85774532	T	C	85774532	2	2	235	1	0	0	0	0	0	0	0	1	13020	1739	60	4		4	RALYL	8	85774532	Silent	SNP	T	TCGA-32-4208-01A-01D-1353-08	48043942	85774532	60589490	36	16295											
PLEC	5339	broad.mit.edu	37	8	144991998	144991998	+	Silent	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:144991998G>C	uc003zaf.1	-	31	12572	c.12402C>G	c.(12400-12402)ggC>ggG	p.G4134G	PLEC_uc003zab.1_Silent_p.G3997G|PLEC_uc003zac.1_Silent_p.G4001G|PLEC_uc003zad.2_Silent_p.G3997G|PLEC_uc003zae.1_Silent_p.G3965G|PLEC_uc003zag.1_Silent_p.G3975G|PLEC_uc003zah.2_Silent_p.G3983G|PLEC_uc003zaj.2_Silent_p.G4024G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4134	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGAACTCGGGGCCCACAATGC	0.622													C	144991998	G	C	144991998	2	2	235	1	0	0	0	0	0	0	0	1	12052	1190	42	5		5	PLEC	8	144991998	Silent	SNP	G	TCGA-32-4208-01A-01D-1353-08	59217466	144991998	1372024	37	16296											
UNC13B	10497	broad.mit.edu	37	9	35386179	35386179	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:35386179C>T	uc003zwr.3	+	22	3028	c.2736C>T	c.(2734-2736)agC>agT	p.S912S	UNC13B_uc003zwq.3_Silent_p.S912S	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	912					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AACTGCAAAGCCCTCCAAGAG	0.483													T	35386179	C	T	35386179	2	4	235	1	0	0	0	0	0	0	0	1	16982	738	26	3		3	UNC13B	9	35386179	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08		35386179	105827252	38	16297											
ZNF658	26149	broad.mit.edu	37	9	40772547	40772547	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:40772547A>C	uc004abs.2	-	4	2880	c.2728T>G	c.(2728-2730)Tat>Gat	p.Y910D	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y910D	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGCATTCATAGGGTTTCTCC	0.448													C	40772547	A	C	40772547	3	2	235	1	0	0	0	0	1	0	0	0	18066	420	15	5	455	5	ZNF658	9	40772547	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	5386368	40772547	100440884	39	16298											
ANKRD16	54522	broad.mit.edu	37	10	5929963	5929963	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:5929963C>T	uc010qat.2	-	1	925	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	ANKRD16_uc009xie.3_Missense_Mutation_p.A128T|ANKRD16_uc009xif.3_Missense_Mutation_p.A128T|ANKRD16_uc001iiq.3_Missense_Mutation_p.A128T|FBXO18_uc001iir.3_5'Flank|FBXO18_uc001iis.3_5'Flank|FBXO18_uc009xig.3_5'Flank	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.	128			A -> G (in dbSNP:rs2296136).					p.A128G(1)|p.G127G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AGTGGATTGGCGCCATGTTCC	0.552													T	5929963	C	T	5929963	3	4	235	1	0	0	0	0	1	0	0	0	645	768	27	1	727	1	ANKRD16	10	5929963	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		5929963	129604784	40	16299											
ERCC6	2074	broad.mit.edu	37	10	50690763	50690763	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:50690763C>T	uc001jhs.4	-	9	2293	c.2139G>A	c.(2137-2139)atG>atA	p.M713I	ERCC6_uc010qgr.2_Missense_Mutation_p.M83I|ERCC6_uc001jhr.4_Missense_Mutation_p.M113I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	713					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.M713T(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATATCCCCCCATGGTGATGG	0.408								Direct reversal of damage;Nucleotide excision repair (NER)					T	50690763	C	T	50690763	3	4	235	1	0	0	0	0	1	0	0	0	5217	594	21	3	2390	3	ERCC6	10	50690763	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	44760800	50690763	84843984	41	16300											
HECTD2	143279	broad.mit.edu	37	10	93244394	93244394	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:93244394A>G	uc010qnm.1	+	9	1064	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Missense_Mutation_p.K318E|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	318					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCAGCCGCTAAAGTGTTGGC	0.333													G	93244394	A	G	93244394	3	3	235	1	0	0	0	0	1	0	0	0	7040	363	13	4	1010	4	HECTD2	10	93244394	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	42553631	93244394	42290353	42	16301											
NUP98	4928	broad.mit.edu	37	11	3744479	3744479	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:3744479T>C	uc001lyh.3	-	15	2475	c.2054A>G	c.(2053-2055)gAa>gGa	p.E685G	NUP98_uc001lyi.3_Missense_Mutation_p.E685G|NUP98_uc001lyj.2_Missense_Mutation_p.E685G|NUP98_uc001lyk.2_Missense_Mutation_p.E702G	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	702					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACTGCTTCCTTCCAGCCCATT	0.433			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								C	3744479	T	C	3744479	3	2	235	1	0	0	0	0	1	0	0	0	10773	1783	62	4	3441	4	NUP98	11	3744479	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		3744479	131262037	43	16302											
GALNTL4	374378	broad.mit.edu	37	11	11470460	11470460	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:11470460C>T	uc001mjo.2	-	1	680	c.259G>A	c.(259-261)Gca>Aca	p.A87T		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	87						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		TCGGCCTCTGCCTCCTCAGGC	0.602													T	11470460	C	T	11470460	3	4	235	1	0	0	0	0	1	0	0	0	6223	739	26	3	1604	3	GALNTL4	11	11470460	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	7725981	11470460	123536056	44	16303											
CDC42BPG	55561	broad.mit.edu	37	11	64602005	64602005	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:64602005C>T	uc001obs.4	-	18	2220	c.2220G>A	c.(2218-2220)tcG>tcA	p.S740S		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	740					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCAGCCTGGCCGAGGCCTCCA	0.672													T	64602005	C	T	64602005	2	4	235	1	0	0	0	0	0	0	0	1	3074	639	23	2		2	CDC42BPG	11	64602005	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	53131545	64602005	70404511	45	16304											
CREBZF	58487	broad.mit.edu	37	11	85375510	85375510	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:85375510G>C	uc001pas.2	-	0	673	c.410C>G	c.(409-411)tCg>tGg	p.S137W	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	137					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCCGCTATCCGAGCCTCCGCC	0.657													C	85375510	G	C	85375510	3	2	235	1	0	0	0	0	1	0	0	0	3863	1059	37	5	658	5	CREBZF	11	85375510	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	20773505	85375510	49631006	46	16305											
C12orf60	144608	broad.mit.edu	37	12	14975979	14975979	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:14975979T>G	uc001rcj.4	+	1	314	c.110T>G	c.(109-111)tTt>tGt	p.F37C	C12orf60_uc021qvq.1_Missense_Mutation_p.F37C	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	37										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ACTGAATTGTTTAGCCGCAGT	0.343													G	14975979	T	G	14975979	3	3	235	1	0	0	0	0	1	0	0	0	1703	1841	64	5	112	5	C12orf60	12	14975979	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		14975979	118875916	47	16306											
LEMD3	23592	broad.mit.edu	37	12	65632357	65632357	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:65632357A>G	uc001ssl.2	+	4	1797	c.1771A>G	c.(1771-1773)Ata>Gta	p.I591V	LEMD3_uc009zqo.2_Missense_Mutation_p.I590V	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	591					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AGATGTTGGAATAAGGTAAAG	0.313													G	65632357	A	G	65632357	3	3	235	1	0	0	0	0	1	0	0	0	8721	101	4	4	1789	4	LEMD3	12	65632357	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	50656378	65632357	68219538	48	16307											
ANO4	121601	broad.mit.edu	37	12	101480543	101480543	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:101480543G>C	uc010svm.1	+	16	2214	c.1642G>C	c.(1642-1644)Gtt>Ctt	p.V548L	ANO4_uc001thw.2_Missense_Mutation_p.V513L|ANO4_uc001thx.2_Missense_Mutation_p.V548L|ANO4_uc001thy.2_Missense_Mutation_p.V68L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	548						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TAACTCTCAGGTTGCAACCAC	0.493										HNSCC(74;0.22)			C	101480543	G	C	101480543	3	2	235	1	0	0	0	0	1	0	0	0	699	1261	44	5	1595	5	ANO4	12	101480543	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	35848186	101480543	32371352	49	16308											
MPHOSPH8	54737	broad.mit.edu	37	13	20233374	20233374	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:20233374A>G	uc001umh.3	+	6	1837	c.1736A>G	c.(1735-1737)tAt>tGt	p.Y579C	MPHOSPH8_uc001umg.3_Missense_Mutation_p.Y579C	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	579					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AATGGGGATTATATTACTGTA	0.284													G	20233374	A	G	20233374	3	3	235	1	0	0	0	0	1	0	0	0	9727	449	16	4	1762	4	MPHOSPH8	13	20233374	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08		20233374	94936504	50	16309											
PAN3	255967	broad.mit.edu	37	13	28794497	28794497	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:28794497A>G	uc001urz.3	+	5	1134	c.982A>G	c.(982-984)Act>Gct	p.T328A	PAN3_uc010tdo.1_Missense_Mutation_p.T328A|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.T128A	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	328	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	p.R327C(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAGCCCTGCTACTGCTGGATT	0.438													G	28794497	A	G	28794497	3	3	235	1	0	0	0	0	1	0	0	0	11415	391	14	4	1004	4	PAN3	13	28794497	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	8561123	28794497	86375381	51	16310											
FRY	10129	broad.mit.edu	37	13	32808846	32808846	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:32808846A>G	uc001utx.3	+	41	6159	c.5663A>G	c.(5662-5664)gAc>gGc	p.D1888G	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCCTTATCTGACCTTCTCTCA	0.517													G	32808846	A	G	32808846	3	3	235	1	0	0	0	0	1	0	0	0	6063	275	10	4	5829	4	FRY	13	32808846	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	4014349	32808846	82361032	52	16311											
RAP2A	5911	broad.mit.edu	37	13	98086962	98086962	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:98086962C>G	uc001vnd.3	+	0	488	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V		NM_021033	NP_066361	P10114	RAP2A_HUMAN	Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA.	80					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GGGCTTCATCCTCGTCTACAG	0.632													G	98086962	C	G	98086962	3	3	235	1	0	0	0	0	1	0	0	0	13040	681	24	5	240	5	RAP2A	13	98086962	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	65278116	98086962	17082916	53	16312											
OSGEP	55644	broad.mit.edu	37	14	20922812	20922812	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr14:20922812C>T	uc001vxf.3	-	0	456	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	APEX1_uc001vxg.3_5'Flank|APEX1_uc001vxh.3_5'Flank|APEX1_uc001vxi.3_5'Flank|APEX1_uc021rnr.1_5'Flank	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	11					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ATCTTATTGGCGCTGCCTTCA	0.632													T	20922812	C	T	20922812	3	4	235	1	0	0	0	0	1	0	0	0	11287	768	27	1	1020	1	OSGEP	14	20922812	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		20922812	86426728	54	16313											
C14orf166B	145497	broad.mit.edu	37	14	77292858	77292858	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr14:77292858C>G	uc001xsx.2	+	0	134	c.20C>G	c.(19-21)tCa>tGa	p.S7*	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	7										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CAATTCCCATCAAAGCCTACT	0.547													G	77292858	C	G	77292858	4	3	235	1	0	0	0	0	0	1	0	0	1757	838	29	5	22	5	C14orf166B	14	77292858	Nonsense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	56370046	77292858	30056682	55	16314											
HERC2	8924	broad.mit.edu	37	15	28474893	28474893	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:28474893C>A	uc001zbj.3	-	31	5016	c.4910G>T	c.(4909-4911)aGt>aTt	p.S1637I		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1637					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAATTGTACTGAGGAGTGG	0.428													A	28474893	C	A	28474893	3	1	235	1	0	0	0	0	1	0	0	0	7058	565	20	5	9842	5	HERC2	15	28474893	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		28474893	74056499	56	16315											
MYO1E	4643	broad.mit.edu	37	15	59502739	59502739	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:59502739C>G	uc002aga.3	-	12	1708	c.1336G>C	c.(1336-1338)Gta>Cta	p.V446L		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	446	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	p.I445I(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AGGTCACATACGATTTTATTA	0.348													G	59502739	C	G	59502739	3	3	235	1	0	0	0	0	1	0	0	0	10072	536	19	5	2054	5	MYO1E	15	59502739	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	31027846	59502739	43028653	57	16316											
C16orf59	80178	broad.mit.edu	37	16	2512205	2512205	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:2512205G>A	uc002cqh.3	+	5	746	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	C16orf59_uc002cqg.2_Missense_Mutation_p.A72T|C16orf59_uc002cqi.3_Missense_Mutation_p.A72T|C16orf59_uc010uwb.2_Missense_Mutation_p.A72T	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	239										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TGCCGCCGCTGCCAAAACCCA	0.612													A	2512205	G	A	2512205	3	1	235	1	0	0	0	0	1	0	0	0	1823	1319	46	3	737	3	C16orf59	16	2512205	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		2512205	87842548	58	16317											
TMC5	79838	broad.mit.edu	37	16	19477522	19477522	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:19477522G>A	uc002dgc.4	+	8	2353	c.1604G>A	c.(1603-1605)tGc>tAc	p.C535Y	TMC5_uc010vaq.2_Missense_Mutation_p.C535Y|TMC5_uc002dgb.4_Missense_Mutation_p.C535Y|TMC5_uc010var.2_Missense_Mutation_p.C535Y|TMC5_uc002dgd.1_Missense_Mutation_p.C289Y|TMC5_uc002dge.4_Missense_Mutation_p.C289Y|TMC5_uc002dgf.4_Missense_Mutation_p.C218Y|TMC5_uc002dgg.4_Missense_Mutation_p.C176Y	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	535						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATCGGAGCATGCTTGACCACC	0.458													A	19477522	G	A	19477522	3	1	235	1	0	0	0	0	1	0	0	0	15985	1319	46	3	1944	3	TMC5	16	19477522	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	16965317	19477522	70877231	59	16318											
SCNN1B	6338	broad.mit.edu	37	16	23360058	23360058	+	Silent	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:23360058C>A	uc002dln.3	+	1	314	c.138C>A	c.(136-138)ccC>ccA	p.P46P		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	46					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTGAGGGGCCCAAGAAGAAAG	0.612													A	23360058	C	A	23360058	2	1	235	1	0	0	0	0	0	0	0	1	13928	581	21	5		5	SCNN1B	16	23360058	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	3882536	23360058	66994695	60	16319											
OR1A2	26189	broad.mit.edu	37	17	3101531	3101531	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:3101531G>C	uc002fvd.1	+	0	719	c.719G>C	c.(718-720)tGt>tCt	p.C240S		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTGCACCTGTGGCTCCCAC	0.438													C	3101531	G	C	3101531	3	2	235	1	0	0	0	0	1	0	0	0	10950	1377	48	5	721	5	OR1A2	17	3101531	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		3101531	78093679	61	16320											
DLG4	1742	broad.mit.edu	37	17	7099833	7099833	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:7099833G>A	uc010vtn.2	-	8	1225	c.965C>T	c.(964-966)gCg>gTg	p.A322V	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.A379V|DLG4_uc002get.4_Missense_Mutation_p.A425V|DLG4_uc010vto.2_Missense_Mutation_p.A422V	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	382	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CGTCTGACCCGCATTCTTCAG	0.542													A	7099833	G	A	7099833	3	1	235	1	0	0	0	0	1	0	0	0	4557	1087	38	1	1073	1	DLG4	17	7099833	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	3998302	7099833	74095377	62	16321											
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	235	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	478573	7578406	73616804	63	16322											
KCNH6	81033	broad.mit.edu	37	17	61613357	61613357	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:61613357G>A	uc002jay.3	+	5	1509	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	KCNH6_uc002jax.1_Missense_Mutation_p.V477M|KCNH6_uc010wpl.2_Missense_Mutation_p.V354M|KCNH6_uc010wpm.2_Missense_Mutation_p.V477M|KCNH6_uc002jaz.1_Missense_Mutation_p.V424M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	477					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTCACCAGCGTGGGCTTCGG	0.602													A	61613357	G	A	61613357	3	1	235	1	0	0	0	0	1	0	0	0	8036	1145	40	1	1451	1	KCNH6	17	61613357	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	54034951	61613357	19581853	64	16323											
FAM20A	54757	broad.mit.edu	37	17	66551780	66551780	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:66551780C>T	uc002jho.3	-	1	797	c.509G>A	c.(508-510)cGc>cAc	p.R170H	FAM20A_uc010wqp.2_Missense_Mutation_p.R32H|FAM20A_uc002jhn.3_5'UTR	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	170						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GAGCCCATGGCGGTTAATACC	0.562													T	66551780	C	T	66551780	3	4	235	1	0	0	0	0	1	0	0	0	5537	768	27	1	1156	1	FAM20A	17	66551780	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	4938423	66551780	14643430	65	16324											
DSC2	1824	broad.mit.edu	37	18	28654745	28654745	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr18:28654745C>G	uc002kwl.4	-	11	2246	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	DSC2_uc002kwk.4_Missense_Mutation_p.D598H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	598	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCATCAGGATCAACCGCAACA	0.428													G	28654745	C	G	28654745	3	3	235	1	0	0	0	0	1	0	0	0	4766	826	29	5	973	5	DSC2	18	28654745	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		28654745	49422503	66	16325											
GALNT1	2589	broad.mit.edu	37	18	33234759	33234759	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr18:33234759G>A	uc010dmu.3	+	1	186	c.133G>A	c.(133-135)Gga>Aga	p.G45R	GALNT1_uc002kyz.4_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.G45R|GALNT1_uc002kzb.3_Missense_Mutation_p.G45R	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	45					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ACTTCCTGCTGGAGATGGTGA	0.338													A	33234759	G	A	33234759	3	1	235	1	0	0	0	0	1	0	0	0	6207	1349	47	3	135	3	GALNT1	18	33234759	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	4580014	33234759	44842489	67	16326											
APC2	10297	broad.mit.edu	37	19	1468647	1468647	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:1468647G>A	uc002lsr.1	+	14	5555	c.5347G>A	c.(5347-5349)Ggg>Agg	p.G1783R	APC2_uc002lss.1_Missense_Mutation_p.G1365R|APC2_uc002lst.1_Missense_Mutation_p.G1783R|APC2_uc002lsu.1_Missense_Mutation_p.G1782R|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1783	Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GACCACGCCCGGGGTGCCAGC	0.721													A	1468647	G	A	1468647	3	1	235	1	0	0	0	0	1	0	0	0	764	1116	39	2	5401	2	APC2	19	1468647	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		1468647	57660336	68	16327											
CDC37	11140	broad.mit.edu	37	19	10505756	10505756	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:10505756C>T	uc002mof.1	-	4	783	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	223					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGCTCTTGGCCAGCTCCAGG	0.592													T	10505756	C	T	10505756	3	4	235	1	0	0	0	0	1	0	0	0	3068	739	26	3	485	3	CDC37	19	10505756	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	9037109	10505756	48623227	69	16328											
FAM129C	199786	broad.mit.edu	37	19	17649991	17649991	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:17649991G>A	uc021uqj.1	+	6	859	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	FAM129C_uc021uqi.1_Missense_Mutation_p.A241T|FAM129C_uc002ngy.4_5'UTR|FAM129C_uc010xpu.2_5'UTR|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_5'UTR|FAM129C_uc002nhb.3_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	241										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCTGCCCGGGCCTTCCTGGA	0.697													A	17649991	G	A	17649991	3	1	235	1	0	0	0	0	1	0	0	0	5438	1203	42	3	747	3	FAM129C	19	17649991	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	7144235	17649991	41478992	70	16329											
CD177	57126	broad.mit.edu	37	19	43865711	43865711	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:43865711G>T	uc002owi.3	+	8	1100	c.1058G>T	c.(1057-1059)gGg>gTg	p.G353V	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	354	UPAR/Ly6 2.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TGTTATGATGGGTACATTCAT	0.622													T	43865711	G	T	43865711	3	4	235	1	0	0	0	0	1	0	0	0	2971	1232	43	5	1091	5	CD177	19	43865711	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	26215720	43865711	15263272	71	16330											
CRYBA4	1413	broad.mit.edu	37	22	27018564	27018564	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr22:27018564A>G	uc003acz.4	+	1	39	c.4A>G	c.(4-6)Acc>Gcc	p.T2A		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	2	N-terminal arm.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCCACAATGACCCTGCAATG	0.562													G	27018564	A	G	27018564	3	3	235	1	0	0	0	0	1	0	0	0	3909	275	10	4	6	4	CRYBA4	22	27018564	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08		27018564	24286002	72	16331											
APOBEC3F	200316	broad.mit.edu	37	22	39436982	39436982	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr22:39436982G>A	uc021wpr.1	+	1	310	c.17_splice	c.e1+1	p.R6_splice	APOBEC3F_uc003awv.3_Splice_Site_p.R6_splice|APOBEC3F_uc011aog.1_Splice_Site_p.R6_splice|APOBEC3F_uc003aww.3_Splice_Site_p.R6_splice	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	6					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCTCACTTCAGGTACCGCTGC	0.647													A	39436982	G	A	39436982	3	1	235	1	0	0	0	0	1	0	0	0	793	1014	35	3	19	3	APOBEC3F	22	39436982	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	12418418	39436982	11867584	73	16332											
CLCN4	1183	broad.mit.edu	37	X	10181901	10181901	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:10181901T>C	uc004csy.4	+	10	2187	c.1757T>C	c.(1756-1758)gTg>gCg	p.V586A	CLCN4_uc011mid.2_Missense_Mutation_p.V492A	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	586						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.V586M(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCTTGACGTGAAGGACGAG	0.597													C	10181901	T	C	10181901	3	2	235	1	0	0	0	0	1	0	0	0	3465	1696	59	4	1791	4	CLCN4	23	10181901	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		10181901	145088659	74	16333											
NHS	4810	broad.mit.edu	37	X	17743937	17743937	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:17743937A>T	uc011mix.2	+	6	2049	c.1711A>T	c.(1711-1713)Agc>Tgc	p.S571C	NHS_uc004cxx.3_Missense_Mutation_p.S550C|NHS_uc004cxy.3_Missense_Mutation_p.S394C|NHS_uc004cxz.3_Missense_Mutation_p.S373C|NHS_uc004cya.3_Missense_Mutation_p.S273C	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	550						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACATCTTCACAGCCCCCAGCA	0.557													T	17743937	A	T	17743937	3	4	235	1	0	0	0	0	1	0	0	0	10411	188	7	5	1775	5	NHS	23	17743937	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	7562036	17743937	137526623	75	16334											
SMC1A	8243	broad.mit.edu	37	X	53409449	53409449	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:53409449A>G	uc004dsg.3	-	20	3332	c.3263T>C	c.(3262-3264)cTg>cCg	p.L1088P	SMC1A_uc011moe.2_Missense_Mutation_p.L1066P	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	1088					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.L1088L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ATTGCGGGACAGGGCCTTATA	0.527													G	53409449	A	G	53409449	3	3	235	1	0	0	0	0	1	0	0	0	14781	188	7	4	458	4	SMC1A	23	53409449	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	35665512	53409449	101861111	76	16335											
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:76938029G>A	uc004ecp.4	-	8	2951	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R869*|ATRX_uc004eco.4_Nonsense_Mutation_p.R692*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R839*|ATRX_uc010nlx.1_Nonsense_Mutation_p.R878*|ATRX_uc010nly.1_Nonsense_Mutation_p.R852*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	907					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R907*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938029	G	A	76938029	4	1	235	1	0	0	0	0	0	1	0	0	1208	1066	37	2	4867	2	ATRX	23	76938029	Nonsense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	23528580	76938029	78332531	77	16336											
PGK1	5230	broad.mit.edu	37	X	77372859	77372860	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:77372859_77372860GC>CT	uc004ecz.4	+	4	640_641	c.468_469GC>CT	c.(466-471)aagcta>aaCTta	p.K156N	PGK1_uc011mqq.2_Missense_Mutation_p.K128N	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	156					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CACTTTCCAAGCTAGGGGATGT	0.426													CT	77372860	GC	CT	77372859	3	2	235	1	0	0	0	0	1	0	0	0	11790	962	34	5	486	5	PGK1	23	77372859	Missense_Mutation	DNP	GC	TCGA-32-4208-01A-01D-1353-08	434830	77372859	77897701	78	16337											
CXorf57	55086	broad.mit.edu	37	X	105882786	105882786	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:105882786G>C	uc004emi.4	+	8	1754	c.1603G>C	c.(1603-1605)Gtc>Ctc	p.V535L	CXorf57_uc004emj.4_Intron|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	535										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TATAAGTGAAGTCAGGAAGGA	0.363													C	105882786	G	C	105882786	3	2	235	1	0	0	0	0	1	0	0	0	4113	1029	36	5	1637	5	CXorf57	23	105882786	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	28509927	105882786	49387774	79	16338			1	38		2	2	12	G		2.878169e-05
CXorf57	55086	broad.mit.edu	37	X	105882797	105882797	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:105882797G>C	uc004emi.4	+	8	1765	c.1614G>C	c.(1612-1614)gaG>gaC	p.E538D	CXorf57_uc004emj.4_Intron|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	538										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAGGAAGGAGATTGAAGACT	0.373													C	105882797	G	C	105882797	3	2	235	1	0	0	0	0	1	0	0	0	4113	933	33	5	1648	5	CXorf57	23	105882797	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	11	105882797	49387763	80	16339			1	38		2	2	12	G		2.878169e-05
SLITRK2	84631	broad.mit.edu	37	X	144906297	144906297	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:144906297C>T	uc022cfn.1	+	0	2354	c.2354C>T	c.(2353-2355)gCc>gTc	p.A785V	SLITRK2_uc004fcd.3_Missense_Mutation_p.A785V|SLITRK2_uc010nsp.3_Missense_Mutation_p.A785V|SLITRK2_uc010nso.3_Missense_Mutation_p.A785V|SLITRK2_uc011mwq.2_Missense_Mutation_p.A785V|SLITRK2_uc011mwr.2_Missense_Mutation_p.A785V|SLITRK2_uc011mws.2_Missense_Mutation_p.A785V|SLITRK2_uc004fcg.3_Missense_Mutation_p.A785V|SLITRK2_uc011mwt.2_Missense_Mutation_p.A785V|CXorf1_uc004fch.3_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	785						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCAGTTTGCCCCTTCCTAT	0.453													T	144906297	C	T	144906297	3	4	235	1	0	0	0	0	1	0	0	0	14743	739	26	3	2356	3	SLITRK2	23	144906297	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	39023500	144906297	10364263	81	16340											
DNAJC11	55735	broad.mit.edu	37	1	6727822	6727822	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:6727822G>A	uc001aof.2	-	3	431	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DNAJC11_uc001aog.2_Missense_Mutation_p.R109W|DNAJC11_uc010nzu.1_Missense_Mutation_p.R19W	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	109					protein folding		heat shock protein binding|unfolded protein binding			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)		CTCTGCAGCCGCTCAAACTCC	0.522													A	6727822	G	A	6727822	3	1	236	1	0	0	0	0	1	0	0	0	4630	1086	38	1	1406	1	DNAJC11	1	6727822	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		6727822	242522799	1	16341											
TDRKH	11022	broad.mit.edu	37	1	151755433	151755433	+	Silent	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:151755433C>T	uc009wnb.1	-	1	248	c.66G>A	c.(64-66)ggG>ggA	p.G22G	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Silent_p.G22G|TDRKH_uc001ezc.4_Silent_p.G22G|TDRKH_uc001eza.4_Silent_p.G22G|TDRKH_uc001ezd.4_Silent_p.G22G|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	22							RNA binding	p.G22V(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGCTGGGATCCCAAGGCCCA	0.463													T	151755433	C	T	151755433	2	4	236	1	0	0	0	0	0	0	0	1	15734	842	30	3		3	TDRKH	1	151755433	Silent	SNP	C	TCGA-32-4209-01A-01D-1353-08	145027611	151755433	97495188	2	16342											
CRTC2	200186	broad.mit.edu	37	1	153921628	153921628	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:153921628G>A	uc021pab.1	-	11	1796	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.S82F	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	546					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)			CCGGTGGTAAGACTGTTGCCC	0.597													A	153921628	G	A	153921628	3	1	236	1	0	0	0	0	1	0	0	0	3900	942	33	3	456	3	CRTC2	1	153921628	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	2166195	153921628	95328993	3	16343											
OR10J3	441911	broad.mit.edu	37	1	159283999	159283999	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:159283999C>T	uc010piu.2	-	0	451	c.451G>A	c.(451-453)Ggg>Agg	p.G151R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(1)|p.L150M(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGCCAATCCCCAGTGATCCA	0.507													T	159283999	C	T	159283999	3	4	236	1	0	0	0	0	1	0	0	0	10911	623	22	3	540	3	OR10J3	1	159283999	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	5362371	159283999	89966622	4	16344											
POU2F1	5451	broad.mit.edu	37	1	167358969	167358969	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:167358969C>G	uc001gec.3	+	9	1128	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Missense_Mutation_p.Q320E|POU2F1_uc010plh.2_Missense_Mutation_p.Q257E|POU2F1_uc001ged.3_Missense_Mutation_p.Q295E|POU2F1_uc001gef.3_Missense_Mutation_p.Q309E|POU2F1_uc001geg.3_Missense_Mutation_p.Q195E	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	297	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GACCTTCAAACAAAGACGAAT	0.483													G	167358969	C	G	167358969	3	3	236	1	0	0	0	0	1	0	0	0	12271	479	17	5	919	5	POU2F1	1	167358969	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	8074970	167358969	81891652	5	16345											
CFH	3075	broad.mit.edu	37	1	196694295	196694295	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:196694295G>A	uc001gtj.4	+	11	1981	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	581	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTAGTTCCTGATCGCAAGAA	0.343													A	196694295	G	A	196694295	3	1	236	1	0	0	0	0	1	0	0	0	3283	1290	45	3	1805	3	CFH	1	196694295	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	29335326	196694295	52556326	6	16346											
HEATR5B	54497	broad.mit.edu	37	2	37295836	37295836	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:37295836T>C	uc002rpp.1	-	7	1261	c.1165A>G	c.(1165-1167)Atg>Gtg	p.M389V		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	389							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACGGCTTTCATTTGTTTTCCA	0.353													C	37295836	T	C	37295836	3	2	236	1	0	0	0	0	1	0	0	0	7032	1493	52	4	5166	4	HEATR5B	2	37295836	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08		37295836	205903537	7	16347											
EIF5B	9669	broad.mit.edu	37	2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:99977775_99977777delTGA	uc002tab.3	+	3	595_597	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	142	Poly-Asp.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.D142N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345													-	99977777	TGA	-	99977775	7	5	236	1	0	1	0	1	0	0	0	0	5044	1693	59	0	425	0	EIF5B	2	99977775	In_Frame_Del	DEL	TGA	TCGA-32-4209-01A-01D-1353-08	62681939	99977775	143221598	8	16348											
KIF5C	3800	broad.mit.edu	37	2	149793797	149793797	+	Splice_Site	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:149793797G>A	uc010zbu.2	+	4	687	c.292_splice	c.e4-1	p.G98_splice		NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	98	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TCGCCCACTAGGGGAAGCTGC	0.512													A	149793797	G	A	149793797	5	1	236	1	0	0	0	0	0	0	1	0	8307	1014	35	3	227	3	KIF5C	2	149793797	Splice_Site	SNP	G	TCGA-32-4209-01A-01D-1353-08	49816022	149793797	93405576	9	16349											
STXBP5L	9515	broad.mit.edu	37	3	120871386	120871386	+	Silent	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:120871386A>G	uc003eec.4	+	7	872	c.732A>G	c.(730-732)gaA>gaG	p.E244E	STXBP5L_uc011bji.2_Silent_p.E244E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	244					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAGAGCAGAACTGAGAGTTT	0.333													G	120871386	A	G	120871386	2	3	236	1	0	0	0	0	0	0	0	1	15356	40	2	4		4	STXBP5L	3	120871386	Silent	SNP	A	TCGA-32-4209-01A-01D-1353-08		120871386	77151044	10	16350											
PEX5L	51555	broad.mit.edu	37	3	179616029	179616029	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:179616029delT	uc003fki.1	-	2	229	c.99delA	c.(97-99)aaafs	p.K33fs	PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Frame_Shift_Del_p.K31fs|PEX5L_uc011bqg.1_Frame_Shift_Del_p.K9fs|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	33					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCCTAGAGCCTTTTCCCTATA	0.413													-	179616029	T	-	179616029	7	5	236	1	0	1	0	1	0	0	0	0	11749	1606	56	0	1833	0	PEX5L	3	179616029	Frame_Shift_Del	DEL	T	TCGA-32-4209-01A-01D-1353-08	58744643	179616029	18406401	11	16351											
NKX3-2	579	broad.mit.edu	37	4	13546023	13546023	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr4:13546023C>T	uc003gmx.2	-	0	92	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	6					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGGTGTTGGCGCCGCGCACA	0.771													T	13546023	C	T	13546023	3	4	236	1	0	0	0	0	1	0	0	0	10456	768	27	1	993	1	NKX3-2	4	13546023	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		13546023	177608253	12	16352											
GEMIN5	25929	broad.mit.edu	37	5	154275813	154275813	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr5:154275813G>C	uc003lvx.3	-	23	3519	c.3436C>G	c.(3436-3438)Cac>Gac	p.H1146D	GEMIN5_uc011ddk.1_Missense_Mutation_p.H1145D	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1146					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCAAGTGTGGTAAGAGGAG	0.547													C	154275813	G	C	154275813	3	2	236	1	0	0	0	0	1	0	0	0	6331	1348	47	5	1110	5	GEMIN5	5	154275813	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		154275813	26639447	13	16353											
AGXT2L2	85007	broad.mit.edu	37	5	177649920	177649920	+	Missense_Mutation	SNP	C	C	T	rs142142484	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr5:177649920C>T	uc003miz.3	-	6	886	c.634G>A	c.(634-636)Gct>Act	p.A212T	AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Missense_Mutation_p.A171T|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Missense_Mutation_p.A70T	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	212						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGAGACTCAGCGAAGAAGGCT	0.587													T	177649920	C	T	177649920	3	4	236	1	0	0	0	0	1	0	0	0	407	768	27	1	742	1	AGXT2L2	5	177649920	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	23374107	177649920	3265340	14	16354											
BMP6	654	broad.mit.edu	37	6	7727630	7727630	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:7727630G>A	uc003mxu.4	+	0	620	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	148					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGCCGACAACGACGAGGACGG	0.731													A	7727630	G	A	7727630	3	1	236	1	0	0	0	0	1	0	0	0	1464	1058	37	2	444	2	BMP6	6	7727630	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		7727630	163387437	15	16355											
NFKBIE	4794	broad.mit.edu	37	6	44229437	44229437	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:44229437C>A	uc003oxe.1	-	2	1059	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F		NM_004556	NP_004547	O00221	IKBE_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.	345					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCAGCAGGCAGCGGGCACA	0.632													A	44229437	C	A	44229437	3	1	236	1	0	0	0	0	1	0	0	0	10380	710	25	5	484	5	NFKBIE	6	44229437	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	36501807	44229437	126885630	16	16356											
COL19A1	1310	broad.mit.edu	37	6	70589454	70589454	+	Translation_Start_Site	SNP	G	G	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:70589454G>T	uc003pfc.1	+	1						NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATGGTTTCAAGGCACAATGAG	0.418													T	70589454	G	T	70589454	1	4	236	1	0	0	0	0	0	0	0	0	3676	1015	35	5		5	COL19A1	6	70589454	Translation_Start_Site	SNP	G	TCGA-32-4209-01A-01D-1353-08	26360017	70589454	100525613	17	16357											
RFPL4B	442247	broad.mit.edu	37	6	112671523	112671523	+	Missense_Mutation	SNP	C	C	T	rs143103700	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:112671523C>T	uc003pvx.1	+	2	925	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	RFPL4B_uc021zdy.1_Missense_Mutation_p.R205C	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	205	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTCGCCTTCGCCGTGTGGG	0.448													T	112671523	C	T	112671523	3	4	236	1	0	0	0	0	1	0	0	0	13256	884	31	2	615	2	RFPL4B	6	112671523	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	42082069	112671523	58443544	18	16358											
DSE	29940	broad.mit.edu	37	6	116757341	116757341	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:116757341C>A	uc011ebg.2	+	5	1866	c.1767C>A	c.(1765-1767)gaC>gaA	p.D589E	DSE_uc003pws.3_Missense_Mutation_p.D570E|DSE_uc003pwt.3_Missense_Mutation_p.D570E|DSE_uc003pwu.3_Missense_Mutation_p.D237E	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	570					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCCTTGTAGACCAAATACACC	0.502													A	116757341	C	A	116757341	3	1	236	1	0	0	0	0	1	0	0	0	4774	506	18	5	1728	5	DSE	6	116757341	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	4085818	116757341	54357726	19	16359											
CLIP2	7461	broad.mit.edu	37	7	73771699	73771699	+	Silent	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr7:73771699G>A	uc003uam.3	+	5	1434	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CLIP2_uc003uan.3_Silent_p.E369E	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	369						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGCACATTGAGCAGCTGCTGG	0.617													A	73771699	G	A	73771699	2	1	236	1	0	0	0	0	0	0	0	1	3533	962	34	3		3	CLIP2	7	73771699	Silent	SNP	G	TCGA-32-4209-01A-01D-1353-08		73771699	85366964	20	16360											
PRUNE2	158471	broad.mit.edu	37	9	79321219	79321219	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr9:79321219C>G	uc010mpk.3	-	7	6095	c.5971G>C	c.(5971-5973)Gaa>Caa	p.E1991Q	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1813Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1991					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTTGACCTTCATTAGTTGAA	0.423													G	79321219	C	G	79321219	3	3	236	1	0	0	0	0	1	0	0	0	12641	835	29	5	3343	5	PRUNE2	9	79321219	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		79321219	61892212	21	16361											
DAPK1	1612	broad.mit.edu	37	9	90266587	90266587	+	Missense_Mutation	SNP	C	C	T	rs36214022		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr9:90266587C>T	uc004apc.3	+	16	1910	c.1772C>T	c.(1771-1773)cCt>cTt	p.P591L	DAPK1_uc004apd.3_Missense_Mutation_p.P591L|DAPK1_uc011ltg.2_Missense_Mutation_p.P591L|DAPK1_uc011lth.2_Missense_Mutation_p.P328L|DAPK1_uc004apf.1_Missense_Mutation_p.P145L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	591			P -> L.		apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGCAACATGCCTATCGTGGTG	0.498									Chronic Lymphocytic Leukemia, Familial Clustering of				T	90266587	C	T	90266587	3	4	236	1	0	0	0	0	1	0	0	0	4235	681	24	3	1834	3	DAPK1	9	90266587	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	10945368	90266587	50946844	22	16362											
TLL2	7093	broad.mit.edu	37	10	98155658	98155658	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr10:98155658C>T	uc001kml.2	-	11	1745	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M	TLL2_uc009xvf.2_Missense_Mutation_p.V480M	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	502	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTAAGTCCCACGTGAAACCCC	0.498											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	98155658	C	T	98155658	3	4	236	1	0	0	0	0	1	0	0	0	15943	536	19	1	1583	1	TLL2	10	98155658	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		98155658	37379089	23	16363											
CHUK	1147	broad.mit.edu	37	10	101960490	101960490	+	Silent	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr10:101960490A>G	uc001kqp.3	-	14	1672	c.1617T>C	c.(1615-1617)gcT>gcC	p.A539A		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	539					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CCATGATTTCAGCATGCAAAG	0.413													G	101960490	A	G	101960490	2	3	236	1	0	0	0	0	0	0	0	1	3416	175	7	4		4	CHUK	10	101960490	Silent	SNP	A	TCGA-32-4209-01A-01D-1353-08	3804832	101960490	33574257	24	16364											
MYO7A	4647	broad.mit.edu	37	11	76901767	76901767	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr11:76901767T>C	uc001oyb.2	+	29	4048	c.3776T>C	c.(3775-3777)aTg>aCg	p.M1259T	MYO7A_uc010rsm.1_Missense_Mutation_p.M1248T|MYO7A_uc001oyc.2_Missense_Mutation_p.M1259T|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.M470T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1259	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGCCAATCATGTTGCCCGTG	0.597													C	76901767	T	C	76901767	3	2	236	1	0	0	0	0	1	0	0	0	10082	1464	51	4	3924	4	MYO7A	11	76901767	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08		76901767	58104749	25	16365											
C12orf35	55196	broad.mit.edu	37	12	32135884	32135884	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:32135884C>G	uc001rks.3	+	3	2409	c.1995C>G	c.(1993-1995)gaC>gaG	p.D665E		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	665										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CTAAAAGTGACAGTAGCTGTT	0.423													G	32135884	C	G	32135884	3	3	236	1	0	0	0	0	1	0	0	0	1682	477	17	5	1997	5	C12orf35	12	32135884	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		32135884	101716011	26	16366											
ABCD2	225	broad.mit.edu	37	12	40013182	40013182	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:40013182C>G	uc001rmb.2	-	0	662	c.236G>C	c.(235-237)gGa>gCa	p.G79A		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	79	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGCATTCACTCCAGGCGAAGG	0.463													G	40013182	C	G	40013182	3	3	236	1	0	0	0	0	1	0	0	0	61	855	30	5	2026	5	ABCD2	12	40013182	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	7877298	40013182	93838713	27	16367											
OR6C2	341416	broad.mit.edu	37	12	55846834	55846834	+	Silent	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:55846834C>T	uc001sgz.1	+	0	837	c.837C>T	c.(835-837)gtC>gtT	p.V279V		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTACTTCTGTCGCACCCTTGT	0.408													T	55846834	C	T	55846834	2	4	236	1	0	0	0	0	0	0	0	1	11191	871	31	2		2	OR6C2	12	55846834	Silent	SNP	C	TCGA-32-4209-01A-01D-1353-08	15833652	55846834	78005061	28	16368											
LEMD3	23592	broad.mit.edu	37	12	65637180	65637180	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:65637180A>G	uc001ssl.2	+	9	2344	c.2318A>G	c.(2317-2319)gAt>gGt	p.D773G	LEMD3_uc009zqo.2_Missense_Mutation_p.D772G	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	773	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTCATTTAGATAGAAGAAAT	0.303													G	65637180	A	G	65637180	3	3	236	1	0	0	0	0	1	0	0	0	8721	333	12	4	2356	4	LEMD3	12	65637180	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08	9790346	65637180	68214715	29	16369											
IKBIP	121457	broad.mit.edu	37	12	99007867	99007867	+	Silent	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:99007867T>C	uc001tfv.3	-	2	659	c.549A>G	c.(547-549)tcA>tcG	p.S183S	IKBIP_uc001tfw.3_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 2, mRNA.	183					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTACTAAACCTGAAATCCGTC	0.308													C	99007867	T	C	99007867	2	2	236	1	0	0	0	0	0	0	0	1	7609	1567	55	4		4	IKBIP	12	99007867	Silent	SNP	T	TCGA-32-4209-01A-01D-1353-08	33370687	99007867	34844028	30	16370											
MMP14	4323	broad.mit.edu	37	14	23312494	23312494	+	Silent	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr14:23312494C>T	uc001whc.3	+	4	951	c.717C>T	c.(715-717)caC>caT	p.H239H		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	239						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGGCTGTGCACGAGCTGGGCC	0.602													T	23312494	C	T	23312494	2	4	236	1	0	0	0	0	0	0	0	1	9653	535	19	1		1	MMP14	14	23312494	Silent	SNP	C	TCGA-32-4209-01A-01D-1353-08		23312494	84037046	31	16371											
TMC7	79905	broad.mit.edu	37	16	19073157	19073157	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr16:19073157A>T	uc002dfq.3	+	15	2294	c.2164A>T	c.(2164-2166)Agg>Tgg	p.R722W	TMC7_uc010vap.2_Missense_Mutation_p.R612W	NM_024847	NP_001153836	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	722						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AAGGGACATGAGGAACTAACT	0.418													T	19073157	A	T	19073157	3	4	236	1	0	0	0	0	1	0	0	0	15987	295	11	5	2226	5	TMC7	16	19073157	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08		19073157	71281596	32	16372											
ULK2	9706	broad.mit.edu	37	17	19699577	19699577	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:19699577T>G	uc002gwm.4	-	18	2337	c.1828A>C	c.(1828-1830)Atc>Ctc	p.I610L	ULK2_uc002gwn.3_Missense_Mutation_p.I610L	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	610					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTTTAGGGATTTTGAAAGGA	0.413													G	19699577	T	G	19699577	3	3	236	1	0	0	0	0	1	0	0	0	16973	1493	52	5	1318	5	ULK2	17	19699577	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08		19699577	61495633	33	16373											
CNTNAP1	8506	broad.mit.edu	37	17	40847561	40847561	+	Silent	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:40847561G>A	uc002iay.3	+	18	3231	c.3015G>A	c.(3013-3015)ccG>ccA	p.P1005P	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1005					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P1005P(2)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTTGAGCCGGGCACCTGGA	0.567													A	40847561	G	A	40847561	2	1	236	1	0	0	0	0	0	0	0	1	3646	1103	39	2		2	CNTNAP1	17	40847561	Silent	SNP	G	TCGA-32-4209-01A-01D-1353-08	21147984	40847561	40347649	34	16374											
TBCD	6904	broad.mit.edu	37	17	80842049	80842049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:80842049C>T	uc002kfy.1	+	14	1634	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	TBCD_uc002kfx.1_Nonsense_Mutation_p.R485*|TBCD_uc002kfz.3_Nonsense_Mutation_p.R502*	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	502					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGTGTTTGACCGAGACATAAA	0.443													T	80842049	C	T	80842049	4	4	236	1	0	0	0	0	0	1	0	0	15630	644	23	2	1562	2	TBCD	17	80842049	Nonsense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	39994488	80842049	353161	35	16375											
ZNF492	57615	broad.mit.edu	37	19	22846757	22846757	+	Nonsense_Mutation	SNP	G	G	T	rs112130958		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:22846757G>T	uc002nqw.3	+	3	530	c.286G>T	c.(286-288)Gaa>Taa	p.E96*		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I96K(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)				GGTGCACAAAGAATGTTACAA	0.299													T	22846757	G	T	22846757	4	4	236	1	0	0	0	0	0	1	0	0	17940	943	33	5	296	5	ZNF492	19	22846757	Nonsense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		22846757	36282226	36	16376											
CEACAM5	1048	broad.mit.edu	37	19	42224052	42224052	+	Missense_Mutation	SNP	G	G	A	rs138799075	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:42224052G>A	uc002orl.3	+	6	1817	c.1696G>A	c.(1696-1698)Gca>Aca	p.A566T	CEACAM5_uc002orj.1_Missense_Mutation_p.A565T	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	566	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AAGAAATGACGCAAGAGCCTA	0.522													A	42224052	G	A	42224052	3	1	236	1	0	0	0	0	1	0	0	0	3195	1087	38	1	1722	1	CEACAM5	19	42224052	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	19377295	42224052	16904931	37	16377											
KLK11	11012	broad.mit.edu	37	19	51528895	51528895	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:51528895A>G	uc002pvd.1	-	1	201	c.89T>C	c.(88-90)cTc>cCc	p.L30P	KLK11_uc002pvc.4_5'UTR|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_5'UTR|KLK11_uc002pvf.1_5'UTR|KLK11_uc010eom.3_5'UTR	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	30					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CATGGCCTGGAGGGGGGAGGA	0.627													G	51528895	A	G	51528895	3	3	236	1	0	0	0	0	1	0	0	0	8399	304	11	4	854	4	KLK11	19	51528895	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08	9304843	51528895	7600088	38	16378											
LILRB2	10288	broad.mit.edu	37	19	54783717	54783717	+	Missense_Mutation	SNP	C	C	T	rs145209585	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:54783717C>T	uc002qfb.3	-	3	550	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.R95Q|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.R95Q|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	95	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.G94G(1)|p.R95*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGCCATATCGCCCTGTGTG	0.557													T	54783717	C	T	54783717	3	4	236	1	0	0	0	0	1	0	0	0	8791	884	31	2	1556	2	LILRB2	19	54783717	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	3254822	54783717	4345266	39	16379											
SIRPG	55423	broad.mit.edu	37	20	1629729	1629729	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:1629729C>A	uc002wfm.1	-	1	464	c.399G>T	c.(397-399)aaG>aaT	p.K133N	SIRPG_uc002wfn.1_Missense_Mutation_p.K133N|SIRPG_uc002wfo.1_Missense_Mutation_p.K133N	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	133	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGGTCCAGACTTAAACTCCA	0.493													A	1629729	C	A	1629729	3	1	236	1	0	0	0	0	1	0	0	0	14336	564	20	5	780	5	SIRPG	20	1629729	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		1629729	61395791	40	16380											
SIGLEC1	6614	broad.mit.edu	37	20	3673751	3673751	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:3673751T>C	uc002wja.3	-	13	3536	c.3536A>G	c.(3535-3537)tAc>tGc	p.Y1179C	SIGLEC1_uc002wiz.4_Missense_Mutation_p.Y1179C|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1179	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTCCAGGAGGTAGGTCAGGCG	0.682													C	3673751	T	C	3673751	3	2	236	1	0	0	0	0	1	0	0	0	14305	1638	57	4	1625	4	SIGLEC1	20	3673751	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08	2044022	3673751	59351769	41	16381											
NTSR1	4923	broad.mit.edu	37	20	61340984	61340984	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:61340984G>A	uc002ydf.3	+	0	796	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	142						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			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)			GCCGGCTGCCGCGGCTACTAC	0.677													A	61340984	G	A	61340984	3	1	236	1	0	0	0	0	1	0	0	0	10710	1087	38	1	427	1	NTSR1	20	61340984	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	57667233	61340984	1684536	42	16382											
TBX1	6899	broad.mit.edu	37	22	19748718	19748718	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:19748718G>T	uc002zqa.1	+	2	454	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	TBX1_uc002zqb.3_Missense_Mutation_p.G109C|TBX1_uc002zqc.3_Missense_Mutation_p.G109C	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	109					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GAAGGTGGCCGGTGTGAGCGT	0.726													T	19748718	G	T	19748718	3	4	236	1	0	0	0	0	1	0	0	0	15647	1116	39	5	331	5	TBX1	22	19748718	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		19748718	31555848	43	16383											
LZTR1	8216	broad.mit.edu	37	22	21341825	21341825	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:21341825G>A	uc002zto.3	+	3	456	c.353G>A	c.(352-354)cGt>cAt	p.R118H	LZTR1_uc002ztn.3_Missense_Mutation_p.R77H|LZTR1_uc011ahy.2_Missense_Mutation_p.R99H|LZTR1_uc010gsr.1_5'UTR	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	118					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGGCCCCCCGTTACCACCAC	0.662													A	21341825	G	A	21341825	3	1	236	1	0	0	0	0	1	0	0	0	9137	1145	40	1	367	1	LZTR1	22	21341825	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	1593107	21341825	29962741	44	16384											
TFIP11	24144	broad.mit.edu	37	22	26890269	26890269	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:26890269A>C	uc003acr.2	-	13	2367	c.1993_splice	c.e13-1	p.V665_splice	TFIP11_uc003acq.2_Missense_Mutation_p.V24G|TFIP11_uc003acs.2_Splice_Site_p.V665_splice|TFIP11_uc003act.2_Splice_Site_p.V665_splice	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	665					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGAGCACAGCACCTGCCAAAA	0.463													C	26890269	A	C	26890269	3	2	236	1	0	0	0	0	1	0	0	0	15804	173	6	5	527	5	TFIP11	22	26890269	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08	5548444	26890269	24414297	45	16385											
NEFH	4744	broad.mit.edu	37	22	29886360	29886360	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:29886360C>A	uc003afo.3	+	3	2802	c.2731C>A	c.(2731-2733)Cct>Act	p.P911T	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	917	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGAGGCTCCTGCCAAGGT	0.502													A	29886360	C	A	29886360	3	1	236	1	0	0	0	0	1	0	0	0	10314	855	30	5	2745	5	NEFH	22	29886360	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	2996091	29886360	21418206	46	16386											
DEPDC5	9681	broad.mit.edu	37	22	32275577	32275577	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:32275577G>A	uc011alu.2	+	37	4074	c.3872G>A	c.(3871-3873)cGc>cAc	p.R1291H	DEPDC5_uc011als.2_Missense_Mutation_p.R1191H|DEPDC5_uc003als.3_Missense_Mutation_p.R1260H|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.R1282H|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.R709H|DEPDC5_uc003alw.3_Missense_Mutation_p.R558H|DEPDC5_uc011alx.2_Missense_Mutation_p.R108H|DEPDC5_uc010gwk.3_Missense_Mutation_p.R286H|DEPDC5_uc011aly.2_Missense_Mutation_p.R108H	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1260					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTTCCAGCGCAAGTGGTTT	0.607													A	32275577	G	A	32275577	3	1	236	1	0	0	0	0	1	0	0	0	4442	1087	38	1	4009	1	DEPDC5	22	32275577	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	2389217	32275577	19028989	47	16387											
PRAMEF10	343071	broad.mit.edu	37	1	12955489	12955489	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:12955489G>A	uc001auo.3	-	1	263	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	64										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		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)		CCCAGAGGGAGGCTGAGGAAG	0.587													A	12955489	G	A	12955489	3	1	237	1	0	0	0	0	1	0	0	0	12426	1000	35	3	1246	3	PRAMEF10	1	12955489	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		12955489	236295132	1	16388											
CASP9	842	broad.mit.edu	37	1	15844698	15844698	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:15844698C>A	uc001awn.3	-	1	570	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	CASP9_uc001awm.2_Missense_Mutation_p.V109L|CASP9_uc001awo.3_Missense_Mutation_p.V109L|CASP9_uc001awp.3_5'UTR|CASP9_uc009voi.3_Intron|CASP9_uc010obm.2_Missense_Mutation_p.V26L	NM_001229	NP_127463	P55211	CASP9_HUMAN	Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.	109					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CTGAGCACCACTGGGGTAAGG	0.517													A	15844698	C	A	15844698	3	1	237	1	0	0	0	0	1	0	0	0	2679	565	20	5	957	5	CASP9	1	15844698	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	2889209	15844698	233405923	2	16389											
MYOM3	127294	broad.mit.edu	37	1	24409117	24409117	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:24409117G>A	uc001bin.4	-	16	2221	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	MYOM3_uc001bim.4_Silent_p.A343A|MYOM3_uc001bio.3_Silent_p.A686A|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	686	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTCGGTGGCGGCTGAGCTCT	0.622													A	24409117	G	A	24409117	2	1	237	1	0	0	0	0	0	0	0	1	10093	1103	39	2		2	MYOM3	1	24409117	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	8564419	24409117	224841504	3	16390											
C8B	732	broad.mit.edu	37	1	57425758	57425758	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:57425758G>A	uc001cyp.3	-	1	251	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Missense_Mutation_p.P10S	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	62					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CAATCAATGGGCATCAGGGTA	0.498													A	57425758	G	A	57425758	3	1	237	1	0	0	0	0	1	0	0	0	2417	1203	42	3	1635	3	C8B	1	57425758	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	33016641	57425758	191824863	4	16391											
DEPDC1	55635	broad.mit.edu	37	1	68948414	68948414	+	Silent	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:68948414T>C	uc001dem.4	-	7	1194	c.1077A>G	c.(1075-1077)tcA>tcG	p.S359S	DEPDC1_uc001dej.4_5'Flank|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	359					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.T358T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CAGTAGAATCTGATTCTTCTT	0.343													C	68948414	T	C	68948414	2	2	237	1	0	0	0	0	0	0	0	1	4439	1567	55	4		4	DEPDC1	1	68948414	Silent	SNP	T	TCGA-32-4210-01A-01D-1353-08	11522656	68948414	180302207	5	16392											
MAGI3	260425	broad.mit.edu	37	1	114225544	114225544	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:114225544G>A	uc001edk.3	+	20	3535	c.3354G>A	c.(3352-3354)tcG>tcA	p.S1118S	MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1143	PDZ 6.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.S1118S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAATCCTTCGTCTTCAAATG	0.318													A	114225544	G	A	114225544	2	1	237	1	0	0	0	0	0	0	0	1	9192	1132	40	1		1	MAGI3	1	114225544	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	45277130	114225544	135025077	6	16393											
AQP10	89872	broad.mit.edu	37	1	154296100	154296100	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:154296100G>C	uc001feu.3	+	4	565	c.525G>C	c.(523-525)ttG>ttC	p.L175F	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	175					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGGCTCTTGGCCATCCTGG	0.607													C	154296100	G	C	154296100	3	2	237	1	0	0	0	0	1	0	0	0	822	1339	47	5	543	5	AQP10	1	154296100	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	40070556	154296100	94954521	7	16394											
MPZL1	9019	broad.mit.edu	37	1	167734984	167734984	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:167734984T>G	uc001geo.3	+	1	458	c.256T>G	c.(256-258)Tcg>Gcg	p.S86A	MPZL1_uc001gen.4_Missense_Mutation_p.S86A|MPZL1_uc001gep.3_Missense_Mutation_p.S86A|MPZL1_uc001geq.3_Missense_Mutation_p.S86A|MPZL1_uc009wvh.3_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	86	Ig-like V-type.				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CACTACTGTGTCGGTAAGAAT	0.483													G	167734984	T	G	167734984	3	3	237	1	0	0	0	0	1	0	0	0	9749	1667	58	5	262	5	MPZL1	1	167734984	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	13438884	167734984	81515637	8	16395											
JMJD4	65094	broad.mit.edu	37	1	227922480	227922480	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:227922480C>A	uc001hrb.3	-	1	438	c.438G>T	c.(436-438)caG>caT	p.Q146H	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.3_Missense_Mutation_p.Q146H	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.	146										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				AGTTGTATTCCTGGACCCCAC	0.552													A	227922480	C	A	227922480	3	1	237	1	0	0	0	0	1	0	0	0	7951	680	24	5	973	5	JMJD4	1	227922480	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	60187496	227922480	21328141	9	16396											
CAD	790	broad.mit.edu	37	2	27449783	27449783	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:27449783A>G	uc002rji.3	+	14	2402	c.2240A>G	c.(2239-2241)aAg>aGg	p.K747R	CAD_uc010eyw.3_Missense_Mutation_p.K684R	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	747	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GACCTTAGCAAGTTCCTGCGA	0.562													G	27449783	A	G	27449783	3	3	237	1	0	0	0	0	1	0	0	0	2565	72	3	4	2298	4	CAD	2	27449783	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08		27449783	215749590	10	16397											
DPP10	57628	broad.mit.edu	37	2	116548668	116548668	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:116548668T>A	uc002tle.3	+	17	1576	c.1555T>A	c.(1555-1557)Ttg>Atg	p.L519M	DPP10_uc002tla.2_Missense_Mutation_p.L515M|DPP10_uc002tlb.2_Missense_Mutation_p.L465M|DPP10_uc002tlc.2_Missense_Mutation_p.L511M|DPP10_uc002tlf.2_Missense_Mutation_p.L508M	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	515					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATTTTATATTGGAAAGCAA	0.328													A	116548668	T	A	116548668	3	1	237	1	0	0	0	0	1	0	0	0	4727	1490	52	5	1784	5	DPP10	2	116548668	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	89098885	116548668	126650705	11	16398											
YSK4	80122	broad.mit.edu	37	2	135744775	135744775	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:135744775G>A	uc002tue.1	-	6	1698	c.1667C>T	c.(1666-1668)aCt>aTt	p.T556I	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T443I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.T284I|YSK4_uc002tui.4_Missense_Mutation_p.T573I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	556							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGACCTTCAGTAGAAATCAC	0.428													A	135744775	G	A	135744775	3	1	237	1	0	0	0	0	1	0	0	0	17492	1029	36	3	2335	3	YSK4	2	135744775	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	19196107	135744775	107454598	12	16399											
FAP	2191	broad.mit.edu	37	2	163055364	163055365	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:163055364_163055365GC>AA	uc002ucd.3	-	15	1512_1513	c.1304_1305GC>TT	c.(1303-1305)agc>aTT	p.S435I	FAP_uc010fpc.3_5'UTR|FAP_uc010zct.2_Missense_Mutation_p.S410I	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	435					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.P434P(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						CACACTTCTTGCTTGGAGGATA	0.371													AA	163055365	GC	AA	163055364	3	1	237	1	0	0	0	0	1	0	0	0	5673	1310	46	3	1021	3	FAP	2	163055364	Missense_Mutation	DNP	GC	TCGA-32-4210-01A-01D-1353-08	27310589	163055364	80144009	13	16400											
TTN	7273	broad.mit.edu	37	2	179421857	179421857	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179421857C>T	uc021vsy.1	-	278	80545	c.80320G>A	c.(80320-80322)Gtt>Att	p.V26774I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V20469I|TTN_uc021vta.1_Missense_Mutation_p.V20402I|TTN_uc021vtb.1_Missense_Mutation_p.V20277I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27701	Ig-like 128.						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)			GTGATACGAACATTTCTTGGG	0.403													T	179421857	C	T	179421857	3	4	237	1	0	0	0	0	1	0	0	0	16732	478	17	3	20087	3	TTN	2	179421857	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	16366493	179421857	63777516	14	16401											
TTN	7273	broad.mit.edu	37	2	179483569	179483569	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179483569T>A	uc021vsy.1	-	199	39229	c.39004A>T	c.(39004-39006)Atc>Ttc	p.I13002F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I6697F|TTN_uc021vta.1_Missense_Mutation_p.I6630F|TTN_uc021vtb.1_Missense_Mutation_p.I6505F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13929	Ig-like 86.						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)			GCTGTCTTGATTTTTGGTGCA	0.408													A	179483569	T	A	179483569	3	1	237	1	0	0	0	0	1	0	0	0	16732	1493	52	5	61433	5	TTN	2	179483569	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	61712	179483569	63715804	15	16402											
TTN	7273	broad.mit.edu	37	2	179485012	179485012	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179485012G>A	uc021vsy.1	-	196	38757	c.38532C>T	c.(38530-38532)tgC>tgT	p.C12844C	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.C6539C|TTN_uc021vta.1_Silent_p.C6472C|TTN_uc021vtb.1_Silent_p.C6347C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13771	Ig-like 85.						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)			TGGAGAGCTGGCAGGAGAAGA	0.418													A	179485012	G	A	179485012	2	1	237	1	0	0	0	0	0	0	0	1	16732	1195	42	3		3	TTN	2	179485012	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	1443	179485012	63714361	16	16403											
FGD5	152273	broad.mit.edu	37	3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:14861995G>A	uc003bzc.3	+	0	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_uc011avk.2_Missense_Mutation_p.A473T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	473					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAA	0.642													A	14861995	G	A	14861995	3	1	237	1	0	0	0	0	1	0	0	0	5836	1087	38	1	1419	1	FGD5	3	14861995	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		14861995	183160435	17	16404											
ZBED2	79413	broad.mit.edu	37	3	111312849	111312849	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:111312849C>T	uc003dxy.3	-	1	1101	c.200G>A	c.(199-201)cGt>cAt	p.R67H	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.R67H	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	67							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GTGCCCAGCACGAGCAGGAGC	0.612													T	111312849	C	T	111312849	3	4	237	1	0	0	0	0	1	0	0	0	17515	536	19	1	460	1	ZBED2	3	111312849	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	96450854	111312849	86709581	18	16405											
MFI2	4241	broad.mit.edu	37	3	196735736	196735736	+	Silent	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:196735736G>C	uc003fxk.4	-	11	1740	c.1626C>G	c.(1624-1626)cgC>cgG	p.R542R		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	542	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CACACTTGTTGCGGCCCTGCT	0.642													C	196735736	G	C	196735736	2	2	237	1	0	0	0	0	0	0	0	1	9522	1306	46	5		5	MFI2	3	196735736	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	85422887	196735736	1286694	19	16406											
ARAP2	116984	broad.mit.edu	37	4	36231022	36231022	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:36231022C>G	uc003gsq.2	-	1	425	c.87G>C	c.(85-87)gaG>gaC	p.E29D	ARAP2_uc003gsr.1_Missense_Mutation_p.E29D	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	29	SAM.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAACCAGACTCATGGAAAT	0.393													G	36231022	C	G	36231022	3	3	237	1	0	0	0	0	1	0	0	0	839	564	20	5	5155	5	ARAP2	4	36231022	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		36231022	154923254	20	16407											
RBM47	54502	broad.mit.edu	37	4	40440160	40440160	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:40440160G>A	uc003gvc.2	-	3	1461	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	RBM47_uc003gvd.2_Missense_Mutation_p.R251C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R213C|RBM47_uc003gvg.1_Missense_Mutation_p.R251C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	251	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGAGGTTGCGCACGTAGAGG	0.617													A	40440160	G	A	40440160	3	1	237	1	0	0	0	0	1	0	0	0	13141	1087	38	1	1046	1	RBM47	4	40440160	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	4209138	40440160	150714116	21	16408											
UBA6	55236	broad.mit.edu	37	4	68543331	68543331	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:68543331G>T	uc003hdg.4	-	5	515	c.463C>A	c.(463-465)Cag>Aag	p.Q155K	UBA6_uc003hdi.3_Missense_Mutation_p.Q155K|UBA6_uc003hdj.2_Missense_Mutation_p.Q155K	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	155					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTACTAACCTGGTATTTATCT	0.308													T	68543331	G	T	68543331	3	4	237	1	0	0	0	0	1	0	0	0	16829	1357	47	5	2807	5	UBA6	4	68543331	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	28103171	68543331	122610945	22	16409											
TMPRSS11E	28983	broad.mit.edu	37	4	69344650	69344650	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:69344650G>A	uc003hdz.4	+	8	1115	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	351	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTACAATGACGCCATAACTCC	0.388													A	69344650	G	A	69344650	3	1	237	1	0	0	0	0	1	0	0	0	16239	1087	38	1	1085	1	TMPRSS11E	4	69344650	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	801319	69344650	121809626	23	16410											
PTPN13	5783	broad.mit.edu	37	4	87671855	87671855	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:87671855A>G	uc003hpz.3	+	17	3363	c.2883A>G	c.(2881-2883)gaA>gaG	p.E961E	PTPN13_uc003hpy.3_Silent_p.E961E|PTPN13_uc003hqa.3_Silent_p.E961E|PTPN13_uc003hqb.3_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	961						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATGGGAGGAAAAGCCTAGAG	0.438													G	87671855	A	G	87671855	2	3	237	1	0	0	0	0	0	0	0	1	12782	11	1	4		4	PTPN13	4	87671855	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08	18327205	87671855	103482421	24	16411											
CCNA2	890	broad.mit.edu	37	4	122744710	122744710	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:122744710G>A	uc003iec.4	-	0	379	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_001237	NP_001228	P20248	CCNA2_HUMAN	Homo sapiens cyclin A2 (CCNA2), mRNA.	25					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						CTCTTGGAGCGCCGTCTGCTG	0.692													A	122744710	G	A	122744710	3	1	237	1	0	0	0	0	1	0	0	0	2910	1087	38	1	1256	1	CCNA2	4	122744710	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	35072855	122744710	68409566	25	16412											
SMARCA5	8467	broad.mit.edu	37	4	144461639	144461639	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:144461639A>T	uc003ijg.3	+	13	2356	c.1894A>T	c.(1894-1896)Att>Ttt	p.I632F		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	632	Helicase C-terminal.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTCAATAGTCATTCAACAAGG	0.363													T	144461639	A	T	144461639	3	4	237	1	0	0	0	0	1	0	0	0	14771	217	8	5	1948	5	SMARCA5	4	144461639	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	21716929	144461639	46692637	26	16413											
C4orf45	152940	broad.mit.edu	37	4	159881481	159881481	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:159881481G>T	uc003iqf.1	-	2	398	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	C4orf45_uc010iqt.1_Intron	NM_152543	NP_689756	Q96LM5	CD045_HUMAN	Homo sapiens chromosome 4 open reading frame 45 (C4orf45), mRNA.	105										large_intestine(2)|lung(3)	5						AGAGAAGCTTGACTTAGTTCT	0.308													T	159881481	G	T	159881481	3	4	237	1	0	0	0	0	1	0	0	0	2273	1299	45	5	259	5	C4orf45	4	159881481	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	15419842	159881481	31272795	27	16414											
PLEKHG4B	153478	broad.mit.edu	37	5	140833	140833	+	Splice_Site	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:140833T>G	uc003jak.2	+	1	459	c.409_splice	c.e1+2	p.D137_splice		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	137					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			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)		AAGAGGAAGGTAAATGCTCCC	0.642													G	140833	T	G	140833	5	3	237	1	0	0	0	0	0	0	1	0	12072	1652	57	5	413	5	PLEKHG4B	5	140833	Splice_Site	SNP	T	TCGA-32-4210-01A-01D-1353-08		140833	180774427	28	16415											
CTNND2	1501	broad.mit.edu	37	5	11199757	11199757	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:11199757C>T	uc003jfa.1	-	10	1923	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D	CTNND2_uc010itt.2_Missense_Mutation_p.G502D|CTNND2_uc011cmy.1_Missense_Mutation_p.G256D|CTNND2_uc011cmz.1_Missense_Mutation_p.G160D|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G160D	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	593					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGCTGGATGCCTCCTTGTCT	0.473													T	11199757	C	T	11199757	3	4	237	1	0	0	0	0	1	0	0	0	4020	739	26	3	1947	3	CTNND2	5	11199757	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	11058924	11199757	169715503	29	16416											
PTGER4	5734	broad.mit.edu	37	5	40681332	40681332	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:40681332G>A	uc003jlz.3	+	1	829	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	79					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCATCGCCACGTACATGAAGG	0.607											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	40681332	G	A	40681332	2	1	237	1	0	0	0	0	0	0	0	1	12745	1132	40	1		1	PTGER4	5	40681332	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	29481575	40681332	140233928	30	16417											
THBS4	7060	broad.mit.edu	37	5	79373950	79373950	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:79373950A>G	uc021yaw.1	+	16	2356	c.2165A>G	c.(2164-2166)aAc>aGc	p.N722S	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	722					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGCCCAGAGAACGCAGAGGTC	0.592													G	79373950	A	G	79373950	3	3	237	1	0	0	0	0	1	0	0	0	15853	43	2	4	2231	4	THBS4	5	79373950	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	38692618	79373950	101541310	31	16418											
GPR98	84059	broad.mit.edu	37	5	90021005	90021005	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:90021005C>A	uc003kju.3	+	46	10105	c.10009C>A	c.(10009-10011)Ctt>Att	p.L3337I	GPR98_uc003kjt.3_Missense_Mutation_p.L1043I|GPR98_uc003kjv.3_Missense_Mutation_p.L937I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3337					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGCCTTCTCTTAACAGTGT	0.264													A	90021005	C	A	90021005	3	1	237	1	0	0	0	0	1	0	0	0	6721	913	32	5	10195	5	GPR98	5	90021005	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	10647055	90021005	90894255	32	16419											
PCDHB1	29930	broad.mit.edu	37	5	140432384	140432384	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:140432384C>T	uc003lik.1	+	0	1406	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	443	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTAATATCCGACGTTAATG	0.448													T	140432384	C	T	140432384	2	4	237	1	0	0	0	0	0	0	0	1	11534	639	23	2		2	PCDHB1	5	140432384	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	50411379	140432384	40482876	33	16420											
FAM71B	153745	broad.mit.edu	37	5	156589852	156589852	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:156589852T>C	uc003lwn.3	-	1	1524	c.1424A>G	c.(1423-1425)aAc>aGc	p.N475S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	475						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTCTCGTGTTTTTATGGCC	0.527													C	156589852	T	C	156589852	3	2	237	1	0	0	0	0	1	0	0	0	5608	1725	60	4	397	4	FAM71B	5	156589852	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	16157468	156589852	24325408	34	16421											
GABRA6	2559	broad.mit.edu	37	5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:161128598C>T	uc003lyu.2	+	8	1519	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	GABRA6_uc003lyv.2_Missense_Mutation_p.A165V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	394					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCACGAGAGCGCCCATCTTA	0.473										TCGA Ovarian(5;0.080)			T	161128598	C	T	161128598	3	4	237	1	0	0	0	0	1	0	0	0	6165	768	27	1	1215	1	GABRA6	5	161128598	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	4538746	161128598	19786662	35	16422											
MDC1	9656	broad.mit.edu	37	6	30675376	30675376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:30675376C>A	uc003nrg.4	-	7	3420	c.2980G>T	c.(2980-2982)Gga>Tga	p.G994*	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	994				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACTGGGGATCCCCTTCCACCT	0.637								Other conserved DNA damage response genes					A	30675376	C	A	30675376	4	1	237	1	0	0	0	0	0	1	0	0	9403	632	22	5	3321	5	MDC1	6	30675376	Nonsense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		30675376	140439691	36	16423											
DST	667	broad.mit.edu	37	6	56476386	56476386	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:56476386A>G	uc003pcy.4	-	23	3564	c.3456T>C	c.(3454-3456)agT>agC	p.S1152S	DST_uc021zax.1_Silent_p.S1152S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3556					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			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)			ATATTTCCTCACTGGAAATCT	0.333													G	56476386	A	G	56476386	2	3	237	1	0	0	0	0	0	0	0	1	4783	156	6	4		4	DST	6	56476386	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08	25801010	56476386	114638681	37	16424											
PTP4A1	7803	broad.mit.edu	37	6	64289185	64289185	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:64289185C>A	uc003pek.3	+	6	1339	c.353C>A	c.(352-354)gCa>gAa	p.A118E	PTP4A1_uc003pel.3_Missense_Mutation_p.A118E|PTP4A1_uc021zbm.1_Non-coding_Transcript	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 1 (PTP4A1), mRNA.	118	Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase.				cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			GTTGCCCTAGCATTAATTGAA	0.328													A	64289185	C	A	64289185	3	1	237	1	0	0	0	0	1	0	0	0	12770	710	25	5	367	5	PTP4A1	6	64289185	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	7812799	64289185	106825882	38	16425											
C6orf170	221322	broad.mit.edu	37	6	121433663	121433663	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:121433663C>G	uc003pyo.1	-	28	3380	c.3312G>C	c.(3310-3312)agG>agC	p.R1104S		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	1104					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AAATATGTAGCCTTGGCAACC	0.338													G	121433663	C	G	121433663	3	3	237	1	0	0	0	0	1	0	0	0	2344	738	26	5	477	5	C6orf170	6	121433663	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	57144478	121433663	49681404	39	16426											
GRM1	2911	broad.mit.edu	37	6	146708084	146708084	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:146708084A>T	uc010khw.1	+	6	2131	c.1661A>T	c.(1660-1662)gAa>gTa	p.E554V	GRM1_uc010khv.1_Missense_Mutation_p.E554V|GRM1_uc003qll.2_Missense_Mutation_p.E554V|GRM1_uc011edz.1_Missense_Mutation_p.E554V|GRM1_uc011eea.1_Missense_Mutation_p.E554V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	554					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			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)	AAAGAGAATGAATATGTGCAA	0.438													T	146708084	A	T	146708084	3	4	237	1	0	0	0	0	1	0	0	0	6796	246	9	5	1683	5	GRM1	6	146708084	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	25274421	146708084	24406983	40	16427											
PLEKHG1	57480	broad.mit.edu	37	6	151117039	151117039	+	Splice_Site	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:151117039G>T	uc011eem.1	+	5	894	c.806_splice	c.e5+1	p.R269_splice	PLEKHG1_uc011eel.1_Splice_Site_p.R250_splice|PLEKHG1_uc003qny.1_Splice_Site_p.R210_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.R210_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	210	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACTATCCAAGGTATGGATCGA	0.403													T	151117039	G	T	151117039	5	4	237	1	0	0	0	0	0	0	1	0	12068	1275	44	5	644	5	PLEKHG1	6	151117039	Splice_Site	SNP	G	TCGA-32-4210-01A-01D-1353-08	4408955	151117039	19998028	41	16428											
SYNE1	23345	broad.mit.edu	37	6	152792795	152792795	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:152792795C>T	uc021zhb.1	-	13	1792	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	SYNE1_uc003qot.4_Silent_p.L530L|SYNE1_uc003qou.4_Silent_p.L523L|SYNE1_uc010kjb.1_Silent_p.L506L|SYNE1_uc003qpa.1_Silent_p.L523L|SYNE1_uc003qox.1_Silent_p.L39L|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Silent_p.L90L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	523					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.L523L(3)|p.L530L(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)		TCCAAGACTTCAGCTTTGACT	0.438										HNSCC(10;0.0054)			T	152792795	C	T	152792795	2	4	237	1	0	0	0	0	0	0	0	1	15442	813	29	3		3	SYNE1	6	152792795	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	1675756	152792795	18322272	42	16429											
SLC29A4	222962	broad.mit.edu	37	7	5330388	5330388	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:5330388C>T	uc003sod.3	+	2	356	c.195C>T	c.(193-195)gaC>gaT	p.D65D	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.D65D|SLC29A4_uc003soe.3_Silent_p.D65D	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	65					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.D64N(4)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGCCCGATGACCGTTATCACG	0.587													T	5330388	C	T	5330388	2	4	237	1	0	0	0	0	0	0	0	1	14537	506	18	3		3	SLC29A4	7	5330388	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		5330388	153808275	43	16430											
CPVL	54504	broad.mit.edu	37	7	29134756	29134756	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:29134756G>A	uc003szv.3	-	4	525	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	CPVL_uc003szw.3_Missense_Mutation_p.R136C|CPVL_uc003szx.3_Missense_Mutation_p.R136C	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	136					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTCTGTCACGCACTGTGAAA	0.547													A	29134756	G	A	29134756	3	1	237	1	0	0	0	0	1	0	0	0	3835	1087	38	1	1060	1	CPVL	7	29134756	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	23804368	29134756	130003907	44	16431											
RABGEF1	27342	broad.mit.edu	37	7	66270262	66270262	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:66270262T>C	uc003tvf.3	+	11	1791	c.575T>C	c.(574-576)cTc>cCc	p.L192P	RABGEF1_uc003tvg.3_Missense_Mutation_p.L127P|RABGEF1_uc003tvh.3_Missense_Mutation_p.L319P|RABGEF1_uc010lag.3_Missense_Mutation_p.L319P|RABGEF1_uc011kee.2_Missense_Mutation_p.L333P|RABGEF1_uc003tvi.3_Missense_Mutation_p.L153P	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	536	Interaction with ubiquitinated proteins.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CTCCCCACCCTCATCTACATT	0.522													C	66270262	T	C	66270262	3	2	237	1	0	0	0	0	1	0	0	0	12966	1551	54	4	982	4	RABGEF1	7	66270262	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	37135506	66270262	92868401	45	16432											
HEPACAM2	253012	broad.mit.edu	37	7	92821587	92821587	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:92821587G>A	uc011khy.2	-	9	1457	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	HEPACAM2_uc003uml.3_Silent_p.A443A|HEPACAM2_uc010lff.3_Missense_Mutation_p.P435L|HEPACAM2_uc003umm.3_Silent_p.A455A	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	455						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTGCTGCTGGGCAGGGATGT	0.453													A	92821587	G	A	92821587	2	1	237	1	0	0	0	0	0	0	0	1	7053	1219	43	3		3	HEPACAM2	7	92821587	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	26551325	92821587	66317076	46	16433											
CALCR	799	broad.mit.edu	37	7	93055835	93055835	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:93055835G>A	uc003umv.2	-	15	1660	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R420C|CALCR_uc003umw.2_Missense_Mutation_p.R420C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	436					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTGGAGGGGCGCCTCCCCCAA	0.557													A	93055835	G	A	93055835	3	1	237	1	0	0	0	0	1	0	0	0	2579	1087	38	1	170	1	CALCR	7	93055835	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	234248	93055835	66082828	47	16434											
ANKRD7	56311	broad.mit.edu	37	7	117864828	117864828	+	Translation_Start_Site	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:117864828C>T	uc003vji.3	+	0						NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.						male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCAGGGCGGACGGCTAGGAGT	0.602													T	117864828	C	T	117864828	1	4	237	1	0	0	0	0	0	0	0	0	686	551	19	1		1	ANKRD7	7	117864828	Translation_Start_Site	SNP	C	TCGA-32-4210-01A-01D-1353-08	24808993	117864828	41273835	48	16435											
PLAT	5327	broad.mit.edu	37	8	42037449	42037449	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:42037449T>G	uc003xos.2	-	11	1567	c.1358A>C	c.(1357-1359)gAg>gCg	p.E453A	PLAT_uc010lxf.1_Missense_Mutation_p.E370A|PLAT_uc010lxg.1_Missense_Mutation_p.E278A|PLAT_uc003xot.2_Missense_Mutation_p.E407A|PLAT_uc011lcm.1_Missense_Mutation_p.E364A|PLAT_uc011lcn.1_Missense_Mutation_p.E327A	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	453	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTTACAGGCCTCATGCTTGCC	0.652													G	42037449	T	G	42037449	3	3	237	1	0	0	0	0	1	0	0	0	12021	1551	54	5	342	5	PLAT	8	42037449	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08		42037449	104326573	49	16436											
CYP7B1	9420	broad.mit.edu	37	8	65517238	65517238	+	Splice_Site	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:65517238C>A	uc003xvj.2	-	5	1437	c.1233_splice	c.e5+1	p.E411_splice		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	411					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGTTTACTTACCTCTGGAGCT	0.493													A	65517238	C	A	65517238	5	1	237	1	0	0	0	0	0	0	1	0	4197	521	18	5	294	5	CYP7B1	8	65517238	Splice_Site	SNP	C	TCGA-32-4210-01A-01D-1353-08	23479789	65517238	80846784	50	16437											
TRAPPC9	83696	broad.mit.edu	37	8	141461384	141461384	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:141461384T>C	uc003yvh.2	-	1	398	c.383A>G	c.(382-384)aAc>aGc	p.N128S	TRAPPC9_uc003yvj.2_Missense_Mutation_p.N30S|TRAPPC9_uc003yvi.1_Missense_Mutation_p.N30S	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	30					cell differentiation	endoplasmic reticulum|Golgi apparatus				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						CCTGAAGAAGTTCTCCTCGGA	0.567													C	141461384	T	C	141461384	3	2	237	1	0	0	0	0	1	0	0	0	16462	1725	60	4	3445	4	TRAPPC9	8	141461384	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	75944146	141461384	4902638	51	16438											
ZNF696	79943	broad.mit.edu	37	8	144378380	144378380	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:144378380A>G	uc003yxy.4	+	2	944	c.535A>G	c.(535-537)Agg>Ggg	p.R179G		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CAGCGGGGAGAGGCCCTACGC	0.697													G	144378380	A	G	144378380	3	3	237	1	0	0	0	0	1	0	0	0	18096	295	11	4	541	4	ZNF696	8	144378380	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	2916996	144378380	1985642	52	16439											
ARHGAP39	80728	broad.mit.edu	37	8	145806268	145806268	+	Silent	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:145806268C>G	uc003zds.1	-	3	1029	c.474G>C	c.(472-474)cgG>cgC	p.R158R	ARHGAP39_uc011llk.1_Silent_p.R158R|ARHGAP39_uc003zdt.1_Silent_p.R158R	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	158					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACGCCGCGGGCCGCCCGGCCC	0.721													G	145806268	C	G	145806268	2	3	237	1	0	0	0	0	0	0	0	1	884	726	26	5		5	ARHGAP39	8	145806268	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	1427888	145806268	557754	53	16440											
ARID3C	138715	broad.mit.edu	37	9	34623425	34623425	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:34623425T>C	uc011lon.2	-	3	862	c.862A>G	c.(862-864)Aaa>Gaa	p.K288E	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	288	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTCGCACCTTTCTTAATAGGG	0.592													C	34623425	T	C	34623425	3	2	237	1	0	0	0	0	1	0	0	0	918	1792	62	4	391	4	ARID3C	9	34623425	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08		34623425	106590006	54	16441											
FAM75A6	389730	broad.mit.edu	37	9	43628658	43628658	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:43628658G>A	uc011lrb.2	-	2	313	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	95						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AAGAAGGTCCGAAGTCTCCTC	0.612													A	43628658	G	A	43628658	3	1	237	1	0	0	0	0	1	0	0	0	5622	1059	37	2	3755	2	FAM75A6	9	43628658	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	9005233	43628658	97584773	55	16442											
SLC28A3	64078	broad.mit.edu	37	9	86928326	86928326	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:86928326T>A	uc010mpz.3	-	1	250	c.104A>T	c.(103-105)aAc>aTc	p.N35I	SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.N35I|SLC28A3_uc010mqb.3_5'UTR	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	35					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTATTGAGTTGTTTCCTGA	0.418													A	86928326	T	A	86928326	3	1	237	1	0	0	0	0	1	0	0	0	14533	1725	60	5	2039	5	SLC28A3	9	86928326	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	43299668	86928326	54285105	56	16443											
ROR2	4920	broad.mit.edu	37	9	94487296	94487296	+	Missense_Mutation	SNP	C	C	T	rs138310082	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:94487296C>T	uc004arj.2	-	8	1679	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	ROR2_uc004ari.1_Missense_Mutation_p.G354S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	494	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCAGGGCCGAACAGGTGA	0.602													T	94487296	C	T	94487296	3	4	237	1	0	0	0	0	1	0	0	0	13527	652	23	2	1355	2	ROR2	9	94487296	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	7558970	94487296	46726135	57	16444											
ZBTB34	403341	broad.mit.edu	37	9	129643102	129643102	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:129643102T>G	uc022bnn.1	+	0	1412	c.1412T>G	c.(1411-1413)gTg>gGg	p.V471G	ZBTB34_uc004bqm.4_Missense_Mutation_p.V471G	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GATGTGTACGTGGAACAGAAA	0.507													G	129643102	T	G	129643102	3	3	237	1	0	0	0	0	1	0	0	0	17534	1696	59	5	1414	5	ZBTB34	9	129643102	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	35155806	129643102	11570329	58	16445											
PRDM12	59335	broad.mit.edu	37	9	133556658	133556658	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:133556658G>A	uc004bzt.1	+	4	766	c.706G>A	c.(706-708)Gcg>Acg	p.A236T		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCGGACTCGGCGGCTGGCCC	0.726													A	133556658	G	A	133556658	3	1	237	1	0	0	0	0	1	0	0	0	12453	1203	42	3	724	3	PRDM12	9	133556658	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	3913556	133556658	7656773	59	16446											
ITGA8	8516	broad.mit.edu	37	10	15701007	15701007	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:15701007C>T	uc001ioc.1	-	9	939	c.939G>A	c.(937-939)acG>acA	p.T313T	ITGA8_uc010qcb.1_Silent_p.T298T	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	313					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTGTTCTCCCGTGAAATTCT	0.328													T	15701007	C	T	15701007	2	4	237	1	0	0	0	0	0	0	0	1	7882	639	23	2		2	ITGA8	10	15701007	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		15701007	119833740	60	16447											
PTCHD3	374308	broad.mit.edu	37	10	27702997	27702997	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:27702997C>T	uc001itu.2	-	0	301	c.183G>A	c.(181-183)gcG>gcA	p.A61A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	61					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCTCCGACGCCAGGGGTC	0.687													T	27702997	C	T	27702997	2	4	237	1	0	0	0	0	0	0	0	1	12734	523	19	1		1	PTCHD3	10	27702997	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	12001990	27702997	107831750	61	16448											
PTEN	5728	broad.mit.edu	37	10	89717691	89717691	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:89717691T>G	uc001kfb.3	+	6	1748	c.716T>G	c.(715-717)aTg>aGg	p.M239R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	239	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K237_Y240>N(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.F238L(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACAAGTTCATGTACTTTGAG	0.413		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89717691	T	G	89717691	3	3	237	1	0	0	0	0	1	0	0	0	12738	1464	51	5	742	5	PTEN	10	89717691	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	62014694	89717691	45817056	62	16449											
NFKB2	4791	broad.mit.edu	37	10	104156679	104156679	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:104156679C>T	uc001kvb.3	+	5	527	c.262C>T	c.(262-264)Cca>Tca	p.P88S	NFKB2_uc001kva.3_Missense_Mutation_p.P88S|NFKB2_uc010qqk.1_Missense_Mutation_p.P88S|NFKB2_uc001kvd.3_Missense_Mutation_p.P88S|NFKB2_uc009xxc.3_Missense_Mutation_p.P88S	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	88	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CTACGAGGGACCAGCCAAGAT	0.602			T	IGH@	B-NHL								T	104156679	C	T	104156679	3	4	237	1	0	0	0	0	1	0	0	0	10376	507	18	3	280	3	NFKB2	10	104156679	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	14438988	104156679	31378068	63	16450											
LRRC56	115399	broad.mit.edu	37	11	554078	554078	+	Silent	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:554078T>C	uc010qvz.2	+	13	1936	c.1431T>C	c.(1429-1431)cgT>cgC	p.R477R		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	477										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGGGGCGTCGGCTCCGAG	0.697													C	554078	T	C	554078	2	2	237	1	0	0	0	0	0	0	0	1	9012	1654	58	4		4	LRRC56	11	554078	Silent	SNP	T	TCGA-32-4210-01A-01D-1353-08		554078	134452438	64	16451											
WEE1	7465	broad.mit.edu	37	11	9608358	9608358	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:9608358G>C	uc001mhs.3	+	9	1995	c.1742G>C	c.(1741-1743)cGa>cCa	p.R581P	WEE1_uc001mht.3_Missense_Mutation_p.R367P	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	581					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.L580F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAACAATTACGAATAGAATTG	0.348													C	9608358	G	C	9608358	3	2	237	1	0	0	0	0	1	0	0	0	17341	1058	37	5	1780	5	WEE1	11	9608358	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	9054280	9608358	125398158	65	16452											
CHRM4	1132	broad.mit.edu	37	11	46407321	46407321	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:46407321C>T	uc001nct.1	-	0	787	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	263					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TCCTCCCGGGCGGCCTCCCCG	0.682													T	46407321	C	T	46407321	3	4	237	1	0	0	0	0	1	0	0	0	3379	768	27	1	656	1	CHRM4	11	46407321	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	36798963	46407321	88599195	66	16453											
OR8H3	390152	broad.mit.edu	37	11	55890095	55890095	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:55890095T>A	uc001nii.1	+	0	247	c.247T>A	c.(247-249)Tta>Ata	p.L83I		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACCTAAAACCTTAGCGAACTT	0.438													A	55890095	T	A	55890095	3	1	237	1	0	0	0	0	1	0	0	0	11239	1606	56	5	249	5	OR8H3	11	55890095	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	9482774	55890095	79116421	67	16454											
OR5M11	219487	broad.mit.edu	37	11	56310099	56310099	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:56310099A>T	uc010rjl.2	-	0	635	c.635T>A	c.(634-636)aTc>aAc	p.I212N	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CACCAAGACGATGGTGAGGGA	0.502													T	56310099	A	T	56310099	3	4	237	1	0	0	0	0	1	0	0	0	11174	333	12	5	285	5	OR5M11	11	56310099	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	420004	56310099	78696417	68	16455											
AHNAK	79026	broad.mit.edu	37	11	62297453	62297453	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:62297453T>A	uc001ntl.3	-	4	4736	c.4436A>T	c.(4435-4437)gAg>gTg	p.E1479V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1479					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGCTTTTATCTCTCCTTCTAC	0.418													A	62297453	T	A	62297453	3	1	237	1	0	0	0	0	1	0	0	0	414	1551	54	5	13356	5	AHNAK	11	62297453	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	5987354	62297453	72709063	69	16456											
PLCB3	5331	broad.mit.edu	37	11	64024115	64024115	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:64024115C>T	uc009ypi.3	+	9	1018	c.891C>T	c.(889-891)agC>agT	p.S297S	PLCB3_uc009ypg.2_Silent_p.S297S|PLCB3_uc009yph.2_Silent_p.S230S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	297					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			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						AGGGCTTTAGCCGCTACCTGG	0.632													T	64024115	C	T	64024115	2	4	237	1	0	0	0	0	0	0	0	1	12029	738	26	3		3	PLCB3	11	64024115	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	1726662	64024115	70982401	70	16457											
ATG2A	23130	broad.mit.edu	37	11	64668368	64668368	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:64668368T>G	uc001obx.3	-	29	4431	c.4316A>C	c.(4315-4317)cAc>cCc	p.H1439P	ATG2A_uc001obw.3_Missense_Mutation_p.H204P	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1439							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTGGCCGGGGTGGGGGCCAAA	0.657													G	64668368	T	G	64668368	3	3	237	1	0	0	0	0	1	0	0	0	1093	1696	59	5	1548	5	ATG2A	11	64668368	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	644253	64668368	70338148	71	16458											
TMPRSS4	56649	broad.mit.edu	37	11	117975409	117975409	+	Missense_Mutation	SNP	G	G	A	rs140457645	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:117975409G>A	uc021qrd.1	+	4	605	c.314G>A	c.(313-315)cGc>cAc	p.R105H	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.R105H|TMPRSS4_uc010rxo.2_Missense_Mutation_p.R103H|TMPRSS4_uc010rxs.2_Missense_Mutation_p.R65H|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.R80H|TMPRSS4_uc010rxt.2_Missense_Mutation_p.R80H	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	105	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTCCCAGTCCGCCTCTCCAAG	0.587													A	117975409	G	A	117975409	3	1	237	1	0	0	0	0	1	0	0	0	16246	1087	38	1	332	1	TMPRSS4	11	117975409	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	53307041	117975409	17031107	72	16459											
C11orf63	79864	broad.mit.edu	37	11	122775064	122775064	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:122775064A>G	uc001pym.3	+	2	1073	c.776A>G	c.(775-777)aAc>aGc	p.N259S	C11orf63_uc001pyl.1_Missense_Mutation_p.N259S	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	259										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTGGAAAAAAACAAGCTCACT	0.463													G	122775064	A	G	122775064	3	3	237	1	0	0	0	0	1	0	0	0	1654	43	2	4	782	4	C11orf63	11	122775064	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	4799655	122775064	12231452	73	16460											
NR4A1	3164	broad.mit.edu	37	12	52451228	52451228	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:52451228G>A	uc001rzs.3	+	6	1773	c.1454G>A	c.(1453-1455)aGt>aAt	p.S485N	NR4A1_uc010sno.2_Missense_Mutation_p.S498N|NR4A1_uc001rzt.3_Missense_Mutation_p.S485N|NR4A1_uc009zmc.3_Missense_Mutation_p.V99I	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	485					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TGGATTGACAGTATCCTGGCC	0.612													A	52451228	G	A	52451228	3	1	237	1	0	0	0	0	1	0	0	0	10632	1029	36	3	1472	3	NR4A1	12	52451228	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		52451228	81400667	74	16461											
AGAP2	116986	broad.mit.edu	37	12	58124715	58124715	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:58124715C>A	uc001spq.3	-	10	2167	c.2167G>T	c.(2167-2169)Ggc>Tgc	p.G723C	AGAP2_uc001spp.3_Missense_Mutation_p.G723C|AGAP2_uc001spr.3_Missense_Mutation_p.G387C	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	723	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATCTCCTTGCCGTGGGTACTG	0.582													A	58124715	C	A	58124715	3	1	237	1	0	0	0	0	1	0	0	0	368	652	23	5	1447	5	AGAP2	12	58124715	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	5673487	58124715	75727180	75	16462											
TDG	6996	broad.mit.edu	37	12	104377129	104377129	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:104377129T>A	uc001tkg.3	+	6	977	c.754T>A	c.(754-756)Ttt>Att	p.F252I	TDG_uc009zuk.3_Missense_Mutation_p.F248I|TDG_uc010swi.2_Missense_Mutation_p.F109I|TDG_uc010swj.2_Missense_Mutation_p.F40I	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	252					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAACTTGGAATTTGGGCTTCA	0.299								Base excision repair (BER), DNA glycosylases					A	104377129	T	A	104377129	3	1	237	1	0	0	0	0	1	0	0	0	15722	1493	52	5	780	5	TDG	12	104377129	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	46252414	104377129	29474766	76	16463											
BTBD11	121551	broad.mit.edu	37	12	108010913	108010913	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:108010913C>T	uc001tmk.1	+	7	2570	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	BTBD11_uc009zut.1_Silent_p.G683G|BTBD11_uc001tmj.3_Silent_p.G683G|BTBD11_uc001tml.1_Silent_p.G220G	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	683						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGAGCATGGCGAGGAGAACT	0.612													T	108010913	C	T	108010913	2	4	237	1	0	0	0	0	0	0	0	1	1539	755	27	1		1	BTBD11	12	108010913	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	3633784	108010913	25840982	77	16464											
KSR2	283455	broad.mit.edu	37	12	117993076	117993076	+	Silent	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:117993076T>C	uc001two.2	-	8	1384	c.1329A>G	c.(1327-1329)acA>acG	p.T443T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	472					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACGGACTCTGTCCGGACTA	0.478													C	117993076	T	C	117993076	2	2	237	1	0	0	0	0	0	0	0	1	8582	1567	55	4		4	KSR2	12	117993076	Silent	SNP	T	TCGA-32-4210-01A-01D-1353-08	9982163	117993076	15858819	78	16465											
DIABLO	56616	broad.mit.edu	37	12	122702873	122702873	+	Silent	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:122702873G>T	uc010tab.2	-	3	1060	c.255C>A	c.(253-255)acC>acA	p.T85T	DIABLO_uc010taa.2_Silent_p.T32T|DIABLO_uc010tac.2_Intron|DIABLO_uc010tad.2_Intron|VPS33A_uc001ucc.3_Non-coding_Transcript	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	85				Missing (in Ref. 2; BAB71568).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GAAAGGTAGAGGTGCTATCTG	0.403													T	122702873	G	T	122702873	2	4	237	1	0	0	0	0	0	0	0	1	4517	987	35	5		5	DIABLO	12	122702873	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	4709797	122702873	11149022	79	16466											
GPR133	283383	broad.mit.edu	37	12	131593382	131593382	+	Silent	SNP	G	G	A	rs60880996	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:131593382G>A	uc010tbm.2	+	18	2656	c.2097G>A	c.(2095-2097)tcG>tcA	p.S699S	GPR133_uc001uit.4_Silent_p.S667S|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Silent_p.S186S|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	667					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S667S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTGGGTCGGAGGACAGCA	0.607													A	131593382	G	A	131593382	2	1	237	1	0	0	0	0	0	0	0	1	6643	1103	39	2		2	GPR133	12	131593382	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	8890509	131593382	2258513	80	16467											
FSCB	84075	broad.mit.edu	37	14	44975414	44975414	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:44975414A>G	uc001wvn.3	-	0	1086	c.777T>C	c.(775-777)ccT>ccC	p.P259P		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	259						cilium				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)		CTGTTGATGGAGGCTCTATTT	0.458													G	44975414	A	G	44975414	2	3	237	1	0	0	0	0	0	0	0	1	6066	291	11	4		4	FSCB	14	44975414	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08		44975414	62374126	81	16468											
SYT16	83851	broad.mit.edu	37	14	62541877	62541877	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:62541877G>A	uc001xfu.1	+	2	958	c.761G>A	c.(760-762)cGt>cAt	p.R254H	SYT16_uc010tsd.1_Missense_Mutation_p.R254H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	254										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGCCAACGGCGTTATTCTGAG	0.428													A	62541877	G	A	62541877	3	1	237	1	0	0	0	0	1	0	0	0	15469	1145	40	1	771	1	SYT16	14	62541877	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	17566463	62541877	44807663	82	16469											
MAP3K9	4293	broad.mit.edu	37	14	71216774	71216774	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:71216774C>A	uc001xmm.3	-	3	1026	c.1026G>T	c.(1024-1026)ttG>ttT	p.L342F	MAP3K9_uc010ttk.2_Missense_Mutation_p.L79F|MAP3K9_uc001xmk.3_Missense_Mutation_p.L36F|MAP3K9_uc001xml.3_Missense_Mutation_p.L342F	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	342	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACCAGTCAGCAACTCCCAAA	0.488													A	71216774	C	A	71216774	3	1	237	1	0	0	0	0	1	0	0	0	9257	709	25	5	2370	5	MAP3K9	14	71216774	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	8674897	71216774	36132766	83	16470											
CACNA1H	8912	broad.mit.edu	37	16	1270781	1270781	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:1270781C>T	uc002cks.3	+	34	7097	c.6849C>T	c.(6847-6849)gaC>gaT	p.D2283D	CACNA1H_uc002ckt.3_Silent_p.D2277D|CACNA1H_uc002cku.3_Silent_p.D978D|CACNA1H_uc010brj.3_Silent_p.D994D|CACNA1H_uc002ckv.3_Silent_p.D972D	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2283					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTTTCTTGGACGGTAGCCACA	0.652													T	1270781	C	T	1270781	2	4	237	1	0	0	0	0	0	0	0	1	2545	535	19	1		1	CACNA1H	16	1270781	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		1270781	89083972	84	16471											
ZNF263	10127	broad.mit.edu	37	16	3339529	3339529	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:3339529G>A	uc002cuq.3	+	5	1355	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	341					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						ATGACCGGTCGCAAGGGGATT	0.632													A	3339529	G	A	3339529	2	1	237	1	0	0	0	0	0	0	0	1	17800	1074	38	1		1	ZNF263	16	3339529	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	2068748	3339529	87015224	85	16472											
IQCK	124152	broad.mit.edu	37	16	19729740	19729740	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:19729740G>C	uc002dgr.3	+	1	811	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.E38Q|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	Homo sapiens IQ motif containing K (IQCK), mRNA.	38										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CGCGTCCCGCGAGCTGCCTGT	0.652													C	19729740	G	C	19729740	3	2	237	1	0	0	0	0	1	0	0	0	7813	1059	37	5	114	5	IQCK	16	19729740	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	16390211	19729740	70625013	86	16473											
MVP	9961	broad.mit.edu	37	16	29855978	29855978	+	Missense_Mutation	SNP	G	G	A	rs148167046		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:29855978G>A	uc002dui.3	+	10	1951	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R600H|MVP_uc010vea.2_Missense_Mutation_p.R194H	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	600					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	p.R600L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCATCATTCGCACTGCTGTC	0.617													A	29855978	G	A	29855978	3	1	237	1	0	0	0	0	1	0	0	0	9996	1087	38	1	1837	1	MVP	16	29855978	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	10126238	29855978	60498775	87	16474											
PRSS36	146547	broad.mit.edu	37	16	31151818	31151818	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:31151818T>C	uc002ebd.3	-	12	2221	c.2162A>G	c.(2161-2163)gAc>gGc	p.D721G	PRSS36_uc010vff.2_Missense_Mutation_p.D496G|PRSS36_uc010vfg.2_Missense_Mutation_p.D716G|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	721	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTCACCTCGGTCCTGGGGTTC	0.667													C	31151818	T	C	31151818	3	2	237	1	0	0	0	0	1	0	0	0	12625	1667	58	4	417	4	PRSS36	16	31151818	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	1295840	31151818	59202935	88	16475											
RPGRIP1L	23322	broad.mit.edu	37	16	53686572	53686572	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:53686572T>C	uc002ehp.3	-	14	2091	c.2027A>G	c.(2026-2028)aAt>aGt	p.N676S	RPGRIP1L_uc002eho.4_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.N676S|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N676S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	676	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGTGATAGTATTCTTCTGAAT	0.378													C	53686572	T	C	53686572	3	2	237	1	0	0	0	0	1	0	0	0	13550	1493	52	4	1972	4	RPGRIP1L	16	53686572	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	22534754	53686572	36668181	89	16476											
NUDT21	11051	broad.mit.edu	37	16	56473612	56473612	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:56473612T>C	uc002eja.3	-	3	575	c.428A>G	c.(427-429)gAt>gGt	p.D143G		NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	143	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACCAATGCAATCGTCAATGAC	0.408													C	56473612	T	C	56473612	3	2	237	1	0	0	0	0	1	0	0	0	10738	1435	50	4	271	4	NUDT21	16	56473612	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	2787040	56473612	33881141	90	16477											
TMEM208	29100	broad.mit.edu	37	16	67261781	67261781	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:67261781G>C	uc002esi.2	+	1	155	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	Homo sapiens transmembrane protein 208 (TMEM208), mRNA.	17						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGATATTTGAAGAGAACAG	0.532													C	67261781	G	C	67261781	3	2	237	1	0	0	0	0	1	0	0	0	16130	1291	45	5	55	5	TMEM208	16	67261781	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	10788169	67261781	23092972	91	16478											
EDC4	23644	broad.mit.edu	37	16	67914753	67914753	+	Silent	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:67914753A>G	uc002eur.3	+	17	2630	c.2391A>G	c.(2389-2391)ggA>ggG	p.G797G	EDC4_uc010cer.3_Silent_p.G416G|EDC4_uc002eus.3_Silent_p.G527G|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	797					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCTTGATGGAGGCCCTGGGG	0.672													G	67914753	A	G	67914753	2	3	237	1	0	0	0	0	0	0	0	1	4908	291	11	4		4	EDC4	16	67914753	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08	652972	67914753	22440000	92	16479											
PLCG2	5336	broad.mit.edu	37	16	81942161	81942161	+	Silent	SNP	C	C	T	rs11548654		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:81942161C>T	uc002fgt.3	+	16	1876	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	PLCG2_uc010chg.1_Silent_p.S566S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	566	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCGGGAGAGCGAGACCTTCC	0.592													T	81942161	C	T	81942161	2	4	237	1	0	0	0	0	0	0	0	1	12036	767	27	1		1	PLCG2	16	81942161	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	14027408	81942161	8412592	93	16480											
DERL2	51009	broad.mit.edu	37	17	5383436	5383436	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:5383436G>T	uc002gcc.1	-	5	565	c.552C>A	c.(550-552)ttC>ttA	p.F184L		NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA.	184					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						CATCTTCCAAGAAAAAATATA	0.358													T	5383436	G	T	5383436	3	4	237	1	0	0	0	0	1	0	0	0	4447	933	33	5	175	5	DERL2	17	5383436	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		5383436	75811774	94	16481											
TP53	7157	broad.mit.edu	37	17	7577544	7577544	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7577544A>C	uc002gim.2	-	6	931	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_uc002gig.1_Missense_Mutation_p.M246R|TP53_uc002gih.3_Missense_Mutation_p.M246R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M114R|TP53_uc010cnf.1_Missense_Mutation_p.M114R|TP53_uc002gii.1_Missense_Mutation_p.M114R|TP53_uc010cni.1_Missense_Mutation_p.M246R|TP53_uc010cnh.1_Missense_Mutation_p.M246R|TP53_uc002gij.2_Missense_Mutation_p.M246R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M153R|TP53_uc002gio.2_Missense_Mutation_p.M114R|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.G245S(296)|p.G245D(99)|p.G245V(58)|p.G245C(51)|p.M246V(31)|p.M246I(24)|p.M246R(20)|p.M246T(17)|p.M246K(15)|p.G245R(10)|p.G245A(8)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(4)|p.G245G(3)|p.G245fs*2(3)|p.M246L(3)|p.G245N(2)|p.C238_M246delCNSSCMGGM(2)|p.M246fs*1(2)|p.G245fs*14(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*22(1)|p.M153T(1)|p.G245del(1)|p.G244_M246>V(1)|p.C242fs*98(1)|p.S241_G245delSCMGG(1)|p.G245fs*17(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)		CCTCCGGTTCATGCCGCCCAT	0.572		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)			C	7577544	A	C	7577544	3	2	237	1	0	0	0	0	1	0	0	0	16378	217	8	5	553	5	TP53	17	7577544	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	2194108	7577544	73617666	95	16482											
DNAH2	146754	broad.mit.edu	37	17	7640511	7640511	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7640511C>T	uc002giu.1	+	6	1119	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	DNAH2_uc002git.3_Missense_Mutation_p.R369C|DNAH2_uc010vuk.2_Missense_Mutation_p.R369C	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	369	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGTCTCATCCGCATCATCTG	0.517													T	7640511	C	T	7640511	3	4	237	1	0	0	0	0	1	0	0	0	4602	652	23	2	1131	2	DNAH2	17	7640511	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	62967	7640511	73554699	96	16483											
ALOX15B	247	broad.mit.edu	37	17	7943287	7943287	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7943287G>A	uc002gju.3	+	2	551	c.435G>A	c.(433-435)cgG>cgA	p.R145R	ALOX15B_uc002gjv.3_Silent_p.R145R|ALOX15B_uc002gjw.3_Silent_p.R145R|ALOX15B_uc010vun.2_Silent_p.R145R|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	145	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TTCAGGCCCGGCAGGAGATGT	0.607													A	7943287	G	A	7943287	2	1	237	1	0	0	0	0	0	0	0	1	539	1190	42	3		3	ALOX15B	17	7943287	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	302776	7943287	73251923	97	16484											
GLP2R	9340	broad.mit.edu	37	17	9737155	9737155	+	Missense_Mutation	SNP	G	G	A	rs147858947	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:9737155G>A	uc002gmd.1	+	1	221	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	74					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GAAACGACTCGGAAGTGGGCT	0.483													A	9737155	G	A	9737155	3	1	237	1	0	0	0	0	1	0	0	0	6453	1116	39	2	227	2	GLP2R	17	9737155	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	1793868	9737155	71458055	98	16485											
MYH13	8735	broad.mit.edu	37	17	10243484	10243484	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:10243484T>C	uc002gmk.1	-	17	2129	c.2039A>G	c.(2038-2040)aAt>aGt	p.N680S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	680	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTGGTCTCATTGGGAATCAG	0.423													C	10243484	T	C	10243484	3	2	237	1	0	0	0	0	1	0	0	0	10032	1493	52	4	3873	4	MYH13	17	10243484	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	506329	10243484	70951726	99	16486											
CETN1	1068	broad.mit.edu	37	18	580606	580606	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:580606G>A	uc002kko.1	+	0	238	c.198G>A	c.(196-198)aaG>aaA	p.K66K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	66	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AACCCAGGAAGGAAGAGATGA	0.557													A	580606	G	A	580606	2	1	237	1	0	0	0	0	0	0	0	1	3274	991	35	3		3	CETN1	18	580606	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08		580606	77496642	100	16487											
MYOM1	8736	broad.mit.edu	37	18	3126851	3126851	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:3126851G>A	uc002klp.3	-	18	3173	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MYOM1_uc002klq.3_Missense_Mutation_p.R851C	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	947	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle	p.R947C(2)		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						ATTGAGTCACGAAAACTTTCA	0.423													A	3126851	G	A	3126851	3	1	237	1	0	0	0	0	1	0	0	0	10091	1058	37	2	2298	2	MYOM1	18	3126851	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	2546245	3126851	74950397	101	16488											
DSC2	1824	broad.mit.edu	37	18	28659892	28659892	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:28659892T>A	uc002kwl.4	-	10	2038	c.1584A>T	c.(1582-1584)aaA>aaT	p.K528N	DSC2_uc002kwk.4_Missense_Mutation_p.K528N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	528	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCTGAAAACTTTGATTGATC	0.343													A	28659892	T	A	28659892	3	1	237	1	0	0	0	0	1	0	0	0	4766	1606	56	5	1185	5	DSC2	18	28659892	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	25533041	28659892	49417356	102	16489											
TNFSF9	8744	broad.mit.edu	37	19	6531065	6531065	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:6531065C>T	uc002mfh.2	+	0	56	c.18C>T	c.(16-18)gaC>gaT	p.D6D		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	6					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACGCCTCTGACGCTTCACTGG	0.692													T	6531065	C	T	6531065	2	4	237	1	0	0	0	0	0	0	0	1	16309	535	19	1		1	TNFSF9	19	6531065	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		6531065	52597918	103	16490											
FBN3	84467	broad.mit.edu	37	19	8200953	8200953	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:8200953C>G	uc002mjf.3	-	11	1500	c.1483G>C	c.(1483-1485)Gtc>Ctc	p.V495L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	495	EGF-like 5; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCACCACTGACAATGCACTCG	0.612													G	8200953	C	G	8200953	3	3	237	1	0	0	0	0	1	0	0	0	5704	478	17	5	7154	5	FBN3	19	8200953	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	1669888	8200953	50928030	104	16491											
WDR83	84292	broad.mit.edu	37	19	12779320	12779320	+	Splice_Site	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:12779320A>G	uc002mue.4	+	2	190	c.-155_splice	c.e2-2		MAN2B1_uc010dyv.1_5'Flank|MAN2B1_uc002mub.2_5'Flank|WDR83_uc002muc.3_Splice_Site|WDR83OS_uc002mud.2_Intron|WDR83_uc010dyw.3_5'Flank	NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN	Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						CTTGTTCTGTAGGGCAAGTCT	0.557													G	12779320	A	G	12779320	5	3	237	1	0	0	0	0	0	0	1	0	17329	434	15	4		4	WDR83	19	12779320	Splice_Site	SNP	A	TCGA-32-4210-01A-01D-1353-08	4578367	12779320	46349663	105	16492											
MYO9B	4650	broad.mit.edu	37	19	17308666	17308666	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:17308666A>G	uc010eak.3	+	23	4265	c.4113_splice	c.e23+1	p.Q1371_splice	MYO9B_uc002nfi.3_Splice_Site_p.Q1371_splice|MYO9B_uc002nfj.1_Splice_Site_p.Q1371_splice|MYO9B_uc002nfl.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1371	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCAAGGCTCAGGTAACAAca	0.557													G	17308666	A	G	17308666	3	3	237	1	0	0	0	0	1	0	0	0	10085	202	7	4	4198	4	MYO9B	19	17308666	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	4529346	17308666	41820317	106	16493											
ZFP30	22835	broad.mit.edu	37	19	38127033	38127033	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:38127033G>A	uc002ogv.1	-	5	925	c.409C>T	c.(409-411)Cct>Tct	p.P137S	ZFP30_uc002ogw.1_Missense_Mutation_p.P137S|ZFP30_uc002ogx.1_Missense_Mutation_p.P137S|ZFP30_uc010xtt.1_Missense_Mutation_p.P136S	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGTAAGTAGGCATTTTTTCA	0.408													A	38127033	G	A	38127033	3	1	237	1	0	0	0	0	1	0	0	0	17641	1203	42	3	1154	3	ZFP30	19	38127033	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	20818367	38127033	21001950	107	16494											
CEACAM4	1089	broad.mit.edu	37	19	42133314	42133314	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:42133314G>A	uc010xwd.1	-	0	129	c.18C>T	c.(16-18)gcC>gcT	p.A6A	CEACAM4_uc002orh.1_Silent_p.A6A	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	6						integral to plasma membrane|membrane fraction		p.S5fs*15(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CACGGGGAGCGGCTGAGGGGG	0.652													A	42133314	G	A	42133314	2	1	237	1	0	0	0	0	0	0	0	1	3194	1103	39	2		2	CEACAM4	19	42133314	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	4006281	42133314	16995669	108	16495											
CLPTM1	1209	broad.mit.edu	37	19	45476426	45476426	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:45476426C>T	uc002pai.3	+	2	322	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.2_5'UTR|CLPTM1_uc010xxg.2_Missense_Mutation_p.R76C	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	90					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.R90C(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGGAGCTCCACGCGTCGCCAG	0.627													T	45476426	C	T	45476426	3	4	237	1	0	0	0	0	1	0	0	0	3554	536	19	1	278	1	CLPTM1	19	45476426	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	3343112	45476426	13652557	109	16496											
LILRA5	353514	broad.mit.edu	37	19	54823150	54823150	+	Silent	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:54823150C>T	uc002qfe.3	-	3	513	c.393G>A	c.(391-393)ctG>ctA	p.L131L	LILRA5_uc002qff.3_Silent_p.L119L|LILRA5_uc010yev.2_Silent_p.L131L|LILRA5_uc010yew.2_Silent_p.L119L|LILRA5_uc002qfg.1_Silent_p.L131L|LILRA5_uc002qfh.1_Silent_p.L119L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	131	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACCAGCTCCAGGGGGTCGC	0.622													T	54823150	C	T	54823150	2	4	237	1	0	0	0	0	0	0	0	1	8788	581	21	3		3	LILRA5	19	54823150	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	9346724	54823150	4305833	110	16497											
NLRP13	126204	broad.mit.edu	37	19	56422072	56422072	+	Silent	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:56422072G>A	uc010ygg.2	-	5	2164	c.2139C>T	c.(2137-2139)caC>caT	p.H713H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	713							ATP binding			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)		TGTTCCATGCGTGCATCCTGG	0.463													A	56422072	G	A	56422072	2	1	237	1	0	0	0	0	0	0	0	1	10475	1136	40	1		1	NLRP13	19	56422072	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	1598922	56422072	2706911	111	16498											
CPXM1	56265	broad.mit.edu	37	20	2776322	2776322	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:2776322C>T	uc002wgu.3	-	10	1717	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H	CPXM1_uc010gas.3_Intron	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	548					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCAGGGTCGGCGGCTGGTGTC	0.622													T	2776322	C	T	2776322	3	4	237	1	0	0	0	0	1	0	0	0	3837	768	27	1	577	1	CPXM1	20	2776322	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		2776322	60249198	112	16499											
ProSAPiP1	9762	broad.mit.edu	37	20	3146165	3146165	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:3146165C>T	uc002wia.1	-	1	2699	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q	ProSAPiP1_uc002wib.1_Missense_Mutation_p.R388Q	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	434						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCCTCTATCCGGGGCAGGAA	0.662													T	3146165	C	T	3146165	3	4	237	1	0	0	0	0	1	0	0	0	12870	652	23	2	728	2	ProSAPiP1	20	3146165	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	369843	3146165	59879355	113	16500											
CRLS1	54675	broad.mit.edu	37	20	5996124	5996124	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:5996124G>T	uc002wmn.4	+	2	716	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	CRLS1_uc010gbq.3_Non-coding_Transcript|CRLS1_uc010gbr.3_Missense_Mutation_p.D89Y|CRLS1_uc010gbs.1_Missense_Mutation_p.D77Y	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN	Homo sapiens cardiolipin synthase 1 (CRLS1), transcript variant 1, mRNA.	188					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups			lung(3)|ovary(1)	4						GACCTATGCAGATCTTATTCC	0.383													T	5996124	G	T	5996124	3	4	237	1	0	0	0	0	1	0	0	0	3889	942	33	5	585	5	CRLS1	20	5996124	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	2849959	5996124	57029396	114	16501											
SALL4	57167	broad.mit.edu	37	20	50401201	50401201	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:50401201G>A	uc002xwh.4	-	3	2866	c.2765C>T	c.(2764-2766)gCg>gTg	p.A922V	SALL4_uc010gii.3_Missense_Mutation_p.A485V|SALL4_uc002xwi.4_Missense_Mutation_p.A145V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	922					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A922V(2)|p.G921W(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTATTGTTCGCCCCGTGTGT	0.468													A	50401201	G	A	50401201	3	1	237	1	0	0	0	0	1	0	0	0	13813	1087	38	1	400	1	SALL4	20	50401201	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	44405077	50401201	12624319	115	16502											
LZTR1	8216	broad.mit.edu	37	22	21345975	21345975	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr22:21345975C>A	uc002zto.3	+	8	953	c.850C>A	c.(850-852)Cgc>Agc	p.R284S	LZTR1_uc002ztn.3_Missense_Mutation_p.R243S|LZTR1_uc011ahy.2_Missense_Mutation_p.R265S|LZTR1_uc010gsr.1_Missense_Mutation_p.R155S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	284					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCGCAGCGGCGCTACGGGCA	0.632													A	21345975	C	A	21345975	3	1	237	1	0	0	0	0	1	0	0	0	9137	768	27	5	884	5	LZTR1	22	21345975	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		21345975	29958591	116	16503											
ESX1	80712	broad.mit.edu	37	X	103495282	103495282	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrX:103495282G>A	uc004ely.3	-	3	917	c.848C>T	c.(847-849)gCg>gTg	p.A283V		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	283	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGGCACAGGCGCCATGCGTGA	0.726													A	103495282	G	A	103495282	3	1	237	1	0	0	0	0	1	0	0	0	5263	1087	38	1	376	1	ESX1	23	103495282	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		103495282	51775278	117	16504											
GPC3	2719	broad.mit.edu	37	X	133087081	133087081	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrX:133087081G>C	uc010nrn.2	-	1	530	c.333C>G	c.(331-333)ttC>ttG	p.F111L	GPC3_uc004exe.2_Missense_Mutation_p.F111L|GPC3_uc011mvh.2_Intron|GPC3_uc010nro.2_Intron|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	111						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACTCACCTTGGAAAACCGCAG	0.373			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				C	133087081	G	C	133087081	3	2	237	1	0	0	0	0	1	0	0	0	6599	1165	41	5	1510	5	GPC3	23	133087081	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	29591799	133087081	22183479	118	16505											
NLGN4Y	22829	broad.mit.edu	37	Y	16952864	16952864	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrY:16952864C>G	uc011nas.1	+	6	2412	c.2233C>G	c.(2233-2235)Cag>Gag	p.Q745E	NLGN4Y_uc004fte.2_Missense_Mutation_p.Q557E|NLGN4Y_uc004ftg.2_Missense_Mutation_p.Q725E|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q418E|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q725E	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	725					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CACTCACATCCAGAACGAAGA	0.547													G	16952864	C	G	16952864	3	3	237	1	0	0	0	0	1	0	0	0	10465	595	21	5	2345	5	NLGN4Y	24	16952864	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		16952864	42420702	119	16506											
AADACL4	343066	broad.mit.edu	37	1	12726355	12726355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:12726355G>A	uc001auf.3	+	3	833	c.833G>A	c.(832-834)tGg>tAg	p.W278*		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	278						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCAGACGTCTGGAGGAAGTAC	0.532													A	12726355	G	A	12726355	4	1	238	1	0	0	0	0	0	1	0	0	13	1357	47	3	847	3	AADACL4	1	12726355	Nonsense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		12726355	236524266	1	16507											
LAPTM5	7805	broad.mit.edu	37	1	31210478	31210478	+	Silent	SNP	G	G	A	rs144620246	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:31210478G>A	uc001bsc.2	-	5	670	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	193					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGAAGGCGATGGAAAAGA	0.542													A	31210478	G	A	31210478	2	1	238	1	0	0	0	0	0	0	0	1	8626	1048	37	2		2	LAPTM5	1	31210478	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	18484123	31210478	218040143	2	16508											
GJA9	81025	broad.mit.edu	37	1	39340374	39340374	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:39340374T>C	uc021olr.1	-	0	1397	c.1397A>G	c.(1396-1398)gAc>gGc	p.D466G	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	466					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTTTGGAATGTCAAGTGATTG	0.493													C	39340374	T	C	39340374	3	2	238	1	0	0	0	0	1	0	0	0	6406	1667	58	4	154	4	GJA9	1	39340374	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	8129896	39340374	209910247	3	16509											
DMBX1	127343	broad.mit.edu	37	1	46976216	46976216	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:46976216G>A	uc001cpx.3	+	1	253	c.238G>A	c.(238-240)Gct>Act	p.A80T	DMBX1_uc001cpw.3_Missense_Mutation_p.A75T	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	80	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCGTTCACGGCTCAGCAGCT	0.582													A	46976216	G	A	46976216	3	1	238	1	0	0	0	0	1	0	0	0	4578	1203	42	3	244	3	DMBX1	1	46976216	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	7635842	46976216	202274405	4	16510											
SPTA1	6708	broad.mit.edu	37	1	158647548	158647548	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:158647548C>G	uc001fst.1	-	6	1088	c.889G>C	c.(889-891)Gtt>Ctt	p.V297L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	297					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGAGGCAACAAGGTCTTTG	0.478													G	158647548	C	G	158647548	3	3	238	1	0	0	0	0	1	0	0	0	15115	478	17	5	6554	5	SPTA1	1	158647548	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	111671332	158647548	90603073	5	16511											
USH2A	7399	broad.mit.edu	37	1	215848824	215848824	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:215848824C>T	uc001hku.1	-	62	12816	c.12429G>A	c.(12427-12429)tcG>tcA	p.S4143S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4143	Fibronectin type-III 26.				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.S4143S(2)		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)		GCTGAGGCGCCGAGTGTGCAC	0.572										HNSCC(13;0.011)			T	215848824	C	T	215848824	2	4	238	1	0	0	0	0	0	0	0	1	17033	639	23	2		2	USH2A	1	215848824	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	57201276	215848824	33401797	6	16512											
WDR26	80232	broad.mit.edu	37	1	224586247	224586247	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:224586247G>A	uc001hop.4	-	10	1808	c.1614C>T	c.(1612-1614)ggC>ggT	p.G538G	WDR26_uc001hoq.4_Silent_p.G522G|WDR26_uc021pjp.1_Non-coding_Transcript|MIR4742_uc021pjq.1_5'Flank	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	538						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		AAGCTAATCGGCCATTTTTTG	0.274													A	224586247	G	A	224586247	2	1	238	1	0	0	0	0	0	0	0	1	17280	1190	42	3		3	WDR26	1	224586247	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	8737423	224586247	24664374	7	16513											
RYR2	6262	broad.mit.edu	37	1	237777926	237777926	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:237777926T>C	uc001hyl.1	+	36	5618	c.5498T>C	c.(5497-5499)aTc>aCc	p.I1833T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1833	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			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)			ATCATGGGCATCTTTCACAAC	0.498													C	237777926	T	C	237777926	3	2	238	1	0	0	0	0	1	0	0	0	13769	1435	50	4	5644	4	RYR2	1	237777926	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	13191679	237777926	11472695	8	16514											
TPO	7173	broad.mit.edu	37	2	1459947	1459947	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:1459947G>A	uc002qwr.3	+	6	798	c.712G>A	c.(712-714)Gac>Aac	p.D238N	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.D238N|TPO_uc002qwx.3_Missense_Mutation_p.D238N|TPO_uc002qwu.3_Missense_Mutation_p.D238N|TPO_uc010yio.2_Missense_Mutation_p.D238N|TPO_uc010yip.2_Missense_Mutation_p.D238N	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	238					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAATACATCGACCACGACAT	0.522													A	1459947	G	A	1459947	3	1	238	1	0	0	0	0	1	0	0	0	16407	1058	37	2	734	2	TPO	2	1459947	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		1459947	241739426	9	16515											
APOB	338	broad.mit.edu	37	2	21231021	21231021	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:21231021G>A	uc002red.3	-	25	8847	c.8719C>T	c.(8719-8721)Cgc>Tgc	p.R2907C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2907					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCTCGTTGCGCAGGTCAGCC	0.468													A	21231021	G	A	21231021	3	1	238	1	0	0	0	0	1	0	0	0	785	1087	38	1	4988	1	APOB	2	21231021	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	19771074	21231021	221968352	10	16516											
ALK	238	broad.mit.edu	37	2	29443572	29443572	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:29443572C>T	uc002rmy.3	-	23	4597	c.3645_splice	c.e23+1	p.P1215_splice	ALK_uc010ymo.2_Splice_Site_p.P147_splice	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1215	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCTCACTCACCGGGCGAGGGC	0.612			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T	29443572	C	T	29443572	2	4	238	1	0	0	0	0	0	0	0	1	525	666	23	2		2	ALK	2	29443572	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	8212551	29443572	213755801	11	16517											
POTEF	728378	broad.mit.edu	37	2	130877830	130877830	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:130877830C>T	uc010fmh.2	-	2	659	c.259G>A	c.(259-261)Gac>Aac	p.D87N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	87						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGAGTCGTCGTGGTCTCCA	0.602													T	130877830	C	T	130877830	3	4	238	1	0	0	0	0	1	0	0	0	12265	884	31	2	3028	2	POTEF	2	130877830	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	101434258	130877830	112321543	12	16518											
POTEE	445582	broad.mit.edu	37	2	131976234	131976234	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:131976234G>A	uc002tsn.2	+	0	311	c.259G>A	c.(259-261)Gac>Aac	p.D87N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	87							ATP binding										TGGAGACCACGACGACTCTGC	0.602													A	131976234	G	A	131976234	3	1	238	1	0	0	0	0	1	0	0	0	12264	1058	37	2	261	2	POTEE	2	131976234	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	1098404	131976234	111223139	13	16519											
SCN1A	6323	broad.mit.edu	37	2	166850722	166850722	+	Missense_Mutation	SNP	G	G	A	rs121917993		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:166850722G>A	uc002udo.4	-	26	5013	c.4786C>T	c.(4786-4788)Cgc>Tgc	p.R1596C	SCN1A_uc010fpk.3_Missense_Mutation_p.R1568C|SCN1A_uc021vsb.1_Missense_Mutation_p.R1585C	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1596			R -> C (in a patient with cryptogenic focal epilepsy; dbSNP:rs121917993).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1585C(1)|p.R1596C(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAATAATGGCGTAGAGAGATG	0.338													A	166850722	G	A	166850722	3	1	238	1	0	0	0	0	1	0	0	0	13914	1145	40	1	1251	1	SCN1A	2	166850722	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	34874488	166850722	76348651	14	16520											
TTN	7273	broad.mit.edu	37	2	179587016	179587016	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:179587016C>T	uc021vsy.1	-	73	18991	c.18766G>A	c.(18766-18768)Gca>Aca	p.A6256T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2917T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7183							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)			CTAGAAGATGCTGTTCCAAGT	0.408													T	179587016	C	T	179587016	3	4	238	1	0	0	0	0	1	0	0	0	16732	797	28	3	82175	3	TTN	2	179587016	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	12736294	179587016	63612357	15	16521											
UBE2E3	10477	broad.mit.edu	37	2	181846854	181846854	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:181846854G>A	uc002unq.1	+	2	304	c.85G>A	c.(85-87)Gct>Act	p.A29T	UBE2E3_uc002unr.1_Missense_Mutation_p.A29T|UBE2E3_uc010fri.1_Missense_Mutation_p.A29T	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 3 (UBE2E3), transcript variant 2, mRNA.	29					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						AGACCCAGCCGCTCCAGAGCC	0.507													A	181846854	G	A	181846854	3	1	238	1	0	0	0	0	1	0	0	0	16851	1087	38	1	87	1	UBE2E3	2	181846854	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2259838	181846854	61352519	16	16522											
HIBCH	26275	broad.mit.edu	37	2	191110923	191110923	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:191110923C>T	uc002uru.3	-	9	1061	c.766G>A	c.(766-768)Gac>Aac	p.D256N	HIBCH_uc002urv.3_Missense_Mutation_p.D256N	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AAAGACTTGTCTCGATCAATC	0.254													T	191110923	C	T	191110923	3	4	238	1	0	0	0	0	1	0	0	0	7100	913	32	3	414	3	HIBCH	2	191110923	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	9264069	191110923	52088450	17	16523											
NBEAL2	23218	broad.mit.edu	37	3	47041457	47041457	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:47041457C>T	uc003cqp.3	+	26	4047	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1290							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTGCTGACCCGGCTATATGT	0.637													T	47041457	C	T	47041457	3	4	238	1	0	0	0	0	1	0	0	0	10189	643	23	2	3974	2	NBEAL2	3	47041457	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		47041457	150980973	18	16524											
AMT	275	broad.mit.edu	37	3	49459869	49459870	+	Frame_Shift_Ins	INS	-	-	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:49459869_49459870insA	uc003cww.3	-	0	242_243	c.14_15insT	c.(13-15)gtafs	p.V5fs	AMT_uc011bcn.2_5'UTR|AMT_uc003cwx.3_Frame_Shift_Ins_p.V5fs|AMT_uc011bco.2_Frame_Shift_Ins_p.V5fs|AMT_uc003cwy.3_5'UTR|AMT_uc011bcq.2_Frame_Shift_Ins_p.V5fs|AMT_uc011bcp.2_5'UTR|NICN1_uc003cwz.1_3'UTR	NM_000481	NP_000472	P48728	GCST_HUMAN	Homo sapiens aminomethyltransferase (AMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	5					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCACCACACTTACAGCCCTCTG	0.639													A	49459870	-	A	49459869	7	5	238	1	0	1	1	0	0	0	0	0	589	1741	61	0	1260	0	AMT	3	49459869	Frame_Shift_Ins	INS	-	TCGA-32-4211-01A-01D-1353-08	2418412	49459869	148562561	19	16525											
CACNA2D2	9254	broad.mit.edu	37	3	50414925	50414925	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:50414925G>T	uc003daq.3	-	16	1637	c.1599C>A	c.(1597-1599)gaC>gaA	p.D533E	CACNA2D2_uc003dap.3_Missense_Mutation_p.D533E	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	533	Cache.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCCTCTTGATGTCATTCAGAG	0.597													T	50414925	G	T	50414925	3	4	238	1	0	0	0	0	1	0	0	0	2549	1368	48	5	1951	5	CACNA2D2	3	50414925	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	955056	50414925	147607505	20	16526											
NR1I2	8856	broad.mit.edu	37	3	119536025	119536025	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:119536025T>C	uc003edj.3	+	8	3110	c.1271T>C	c.(1270-1272)cTc>cCc	p.L424P	NR1I2_uc003edi.3_Missense_Mutation_p.L387P|NR1I2_uc003edk.3_Missense_Mutation_p.L463P|NR1I2_uc003edl.3_Missense_Mutation_p.L312P	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	424	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCTACGCCCCTCATGCAGGAG	0.622													C	119536025	T	C	119536025	3	2	238	1	0	0	0	0	1	0	0	0	10620	1551	54	4	1422	4	NR1I2	3	119536025	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	69121100	119536025	78486405	21	16527											
CSTA	1475	broad.mit.edu	37	3	122060340	122060340	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:122060340G>A	uc003eex.3	+	2	352	c.223G>A	c.(223-225)Gga>Aga	p.G75R		NM_005213	NP_005204	P01040	CYTA_HUMAN	Homo sapiens cystatin A (stefin A) (CSTA), mRNA.	75					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	p.P74P(1)		large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		AAGTCTTCCCGGACAAAATGA	0.378													A	122060340	G	A	122060340	3	1	238	1	0	0	0	0	1	0	0	0	3981	1117	39	2	233	2	CSTA	3	122060340	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2524315	122060340	75962090	22	16528											
CLSTN2	64084	broad.mit.edu	37	3	140178466	140178466	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:140178466C>T	uc003etn.3	+	6	1267	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	CLSTN2_uc003etm.2_Silent_p.D359D	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	359					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCAAGTTTGACGGCAGGCAGG	0.577										HNSCC(16;0.037)			T	140178466	C	T	140178466	2	4	238	1	0	0	0	0	0	0	0	1	3562	535	19	1		1	CLSTN2	3	140178466	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	18118126	140178466	57843964	23	16529											
ETV5	2119	broad.mit.edu	37	3	185766628	185766628	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:185766628A>G	uc003fpy.3	-	12	1524	c.1459T>C	c.(1459-1461)Tac>Cac	p.Y487H	ETV5_uc003fpz.3_Missense_Mutation_p.Y445H	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	445					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ACAAATTTGTAGACGTATCGC	0.562			T	"TMPRSS2, SCL45A3"	Prostate								G	185766628	A	G	185766628	3	3	238	1	0	0	0	0	1	0	0	0	5282	420	15	4	203	4	ETV5	3	185766628	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08	45588162	185766628	12255802	24	16530											
SST	6750	broad.mit.edu	37	3	187387016	187387016	+	Missense_Mutation	SNP	G	G	A	rs149673471		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:187387016G>A	uc003frn.3	-	1	310	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	63					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	p.T63T(2)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	ATCATTCTCCGTCTGGTTGGG	0.517													A	187387016	G	A	187387016	3	1	238	1	0	0	0	0	1	0	0	0	15195	1145	40	1	166	1	SST	3	187387016	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	1620388	187387016	10635414	25	16531											
ZNF718	255403	broad.mit.edu	37	4	155819	155819	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:155819T>G	uc003fzt.4	+	3	1500	c.1344T>G	c.(1342-1344)gaT>gaG	p.D448E	ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript|ZNF718_uc003fzw.4_3'UTR	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 718 (ZNF718), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ACACTGTAGATAAACCCTACA	0.353													G	155819	T	G	155819	3	3	238	1	0	0	0	0	1	0	0	0	18117	1403	49	5	1358	5	ZNF718	4	155819	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08		155819	190998457	26	16532											
FGFRL1	53834	broad.mit.edu	37	4	1018886	1018886	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:1018886G>A	uc003gce.3	+	6	1427	c.1266G>A	c.(1264-1266)acG>acA	p.T422T	FGFRL1_uc003gcf.3_Silent_p.T422T|FGFRL1_uc003gcg.3_Silent_p.T422T|FGFRL1_uc010ibo.3_Silent_p.T422T	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	422					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.G421E(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCGGGGACGGCCCGCGACC	0.731													A	1018886	G	A	1018886	2	1	238	1	0	0	0	0	0	0	0	1	5869	1103	39	2		2	FGFRL1	4	1018886	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	863067	1018886	190135390	27	16533											
TLR6	10333	broad.mit.edu	37	4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:38829218C>T	uc010ifg.2	-	1	1998	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_uc003gtm.3_Missense_Mutation_p.R626H	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	626					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502													T	38829218	C	T	38829218	3	4	238	1	0	0	0	0	1	0	0	0	15952	768	27	1	517	1	TLR6	4	38829218	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	37810332	38829218	152325058	28	16534											
PITX2	5308	broad.mit.edu	37	4	111553638	111553638	+	Splice_Site	SNP	T	T	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:111553638T>A	uc003iaf.3	-	5	1870	c.47_splice	c.e5-1	p.G16_splice	PITX2_uc003iad.3_Splice_Site_p.G16_splice|PITX2_uc021xqr.1_Splice_Site_p.G16_splice|PITX2_uc003iae.3_Intron|PITX2_uc021xqs.1_Intron	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	16					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCTGCACGCCTGGGCCACGCG	0.687													A	111553638	T	A	111553638	5	1	238	1	0	0	0	0	0	0	1	0	11955	1594	55	5	1129	5	PITX2	4	111553638	Splice_Site	SNP	T	TCGA-32-4211-01A-01D-1353-08	72724420	111553638	79600638	29	16535											
ANK2	287	broad.mit.edu	37	4	114251595	114251595	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:114251595G>A	uc003ibe.4	+	26	3194	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	ANK2_uc003ibd.4_Missense_Mutation_p.E1023K|ANK2_uc003ibf.4_Missense_Mutation_p.E1032K|ANK2_uc011cgc.2_Missense_Mutation_p.E241K|ANK2_uc003ibg.4_Missense_Mutation_p.E60K|ANK2_uc003ibc.2_Missense_Mutation_p.E1008K|ANK2_uc011cgb.1_Missense_Mutation_p.E1047K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1021	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		TCGCCTGATCGAAGTTGGACC	0.532													A	114251595	G	A	114251595	3	1	238	1	0	0	0	0	1	0	0	0	621	1059	37	2	3265	2	ANK2	4	114251595	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2697957	114251595	76902681	30	16536											
GPM6A	2823	broad.mit.edu	37	4	176594942	176594942	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:176594942G>C	uc003iuf.3	-	2	1080	c.276C>G	c.(274-276)ttC>ttG	p.F92L	GPM6A_uc011ckj.2_Missense_Mutation_p.F85L|GPM6A_uc003iug.3_Missense_Mutation_p.F92L|GPM6A_uc003iuh.3_Missense_Mutation_p.F81L	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	92						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATACACAAAGAACGCAGCTG	0.418													C	176594942	G	C	176594942	3	2	238	1	0	0	0	0	1	0	0	0	6615	933	33	5	580	5	GPM6A	4	176594942	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	62343347	176594942	14559334	31	16537											
DNAH5	1767	broad.mit.edu	37	5	13809274	13809274	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:13809274G>A	uc003jfd.2	-	45	7673	c.7631C>T	c.(7630-7632)aCg>aTg	p.T2544M		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2544					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2544M(2)		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)					CTGGGTACGCGTGTTCCAGTG	0.438									Kartagener syndrome				A	13809274	G	A	13809274	3	1	238	1	0	0	0	0	1	0	0	0	4604	1145	40	1	6379	1	DNAH5	5	13809274	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		13809274	167105986	32	16538											
GRAMD3	65983	broad.mit.edu	37	5	125822670	125822670	+	Splice_Site	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:125822670G>T	uc011cwt.2	+	12	1444	c.1208_splice	c.e12+1	p.E403_splice	GRAMD3_uc003ktu.3_Splice_Site_p.E388_splice|GRAMD3_uc011cwv.2_Splice_Site_p.E396_splice|GRAMD3_uc011cww.2_Splice_Site_p.E284_splice|GRAMD3_uc011cwx.2_Splice_Site|GRAMD3_uc011cwy.2_Splice_Site_p.E279_splice|GRAMD3_uc011cwz.2_Splice_Site_p.E372_splice	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	388										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ATAATACTGAGTAAGACGATT	0.403													T	125822670	G	T	125822670	5	4	238	1	0	0	0	0	0	0	1	0	6751	1043	36	5	1424	5	GRAMD3	5	125822670	Splice_Site	SNP	G	TCGA-32-4211-01A-01D-1353-08	112013396	125822670	55092590	33	16539											
ADAM19	8728	broad.mit.edu	37	5	156916128	156916128	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:156916128C>T	uc003lwz.3	-	19	2386	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	ADAM19_uc003lww.2_Silent_p.T502T|ADAM19_uc003lwy.3_Silent_p.T368T|ADAM19_uc011ddr.1_Silent_p.T700T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	769					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			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)			TGCCCTGGGGCGTCTGCAGCT	0.483													T	156916128	C	T	156916128	2	4	238	1	0	0	0	0	0	0	0	1	240	755	27	1		1	ADAM19	5	156916128	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	31093458	156916128	23999132	34	16540											
IRF4	3662	broad.mit.edu	37	6	398917	398917	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:398917G>A	uc003msz.4	+	5	853	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	IRF4_uc010jne.2_Missense_Mutation_p.E243K|IRF4_uc003mtb.4_Missense_Mutation_p.E242K|IRF4_uc021ykl.1_Missense_Mutation_p.E89K|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.E73K	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	243					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E243K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGGTCTGCCGAAGCCTTGGC	0.592			T	IGH@	MM								A	398917	G	A	398917	3	1	238	1	0	0	0	0	1	0	0	0	7832	1059	37	2	745	2	IRF4	6	398917	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		398917	170716150	35	16541											
F13A1	2162	broad.mit.edu	37	6	6225003	6225003	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:6225003C>T	uc003mwv.3	-	6	1012	c.889G>A	c.(889-891)Gtt>Att	p.V297I	F13A1_uc011dib.2_Missense_Mutation_p.V234I	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	297					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAATGTCAACGCTTCCAGTC	0.488													T	6225003	C	T	6225003	3	4	238	1	0	0	0	0	1	0	0	0	5340	536	19	1	1345	1	F13A1	6	6225003	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	5826086	6225003	164890064	36	16542											
JARID2	3720	broad.mit.edu	37	6	15504806	15504806	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:15504806G>T	uc003nbj.3	+	8	2768	c.2524G>T	c.(2524-2526)Gcc>Tcc	p.A842S	JARID2_uc011div.2_Missense_Mutation_p.A670S|JARID2_uc011diw.1_Missense_Mutation_p.A804S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	842					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAAGGAGCCTGCCCCAGCCGA	0.522													T	15504806	G	T	15504806	3	4	238	1	0	0	0	0	1	0	0	0	7945	1319	46	5	2558	5	JARID2	6	15504806	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	9279803	15504806	155610261	37	16543											
KIF13A	63971	broad.mit.edu	37	6	17800257	17800257	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:17800257T>G	uc003ncg.4	-	20	2702	c.2542A>C	c.(2542-2544)Agt>Cgt	p.S848R	KIF13A_uc003ncf.3_Missense_Mutation_p.S848R|KIF13A_uc003nch.4_Missense_Mutation_p.S848R|KIF13A_uc003nci.4_Missense_Mutation_p.S848R	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	848					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCACTTTCACTGGAATTCTCC	0.542													G	17800257	T	G	17800257	3	3	238	1	0	0	0	0	1	0	0	0	8274	1580	55	5	2976	5	KIF13A	6	17800257	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	2295451	17800257	153314810	38	16544											
ABCC10	89845	broad.mit.edu	37	6	43415637	43415637	+	Silent	SNP	C	C	T	rs144509707		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:43415637C>T	uc003ouy.1	+	17	4136	c.3921C>T	c.(3919-3921)gaC>gaT	p.D1307D	ABCC10_uc003ouz.1_Silent_p.D1279D|ABCC10_uc010jyo.1_Silent_p.D413D	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1307	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGCTGCTGGACGGCGTGGACA	0.632													T	43415637	C	T	43415637	2	4	238	1	0	0	0	0	0	0	0	1	50	535	19	1		1	ABCC10	6	43415637	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	25615380	43415637	127699430	39	16545											
ENPP4	22875	broad.mit.edu	37	6	46111073	46111073	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:46111073G>C	uc003oxy.3	+	3	1317	c.1058G>C	c.(1057-1059)gGa>gCa	p.G353A		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	353						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCTGCCCACGGACCTGCATTT	0.388													C	46111073	G	C	46111073	3	2	238	1	0	0	0	0	1	0	0	0	5132	1174	41	5	1068	5	ENPP4	6	46111073	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2695436	46111073	125003994	40	16546											
SYNJ2	8871	broad.mit.edu	37	6	158438287	158438287	+	Missense_Mutation	SNP	C	C	T	rs143362296	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:158438287C>T	uc003qqx.2	+	1	285	c.179C>T	c.(178-180)gCg>gTg	p.A60V	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.A60V|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_5'Flank|SYNJ2_uc010kjo.1_5'Flank	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	60							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTCACGGACGCGTACGGCTGC	0.602													T	158438287	C	T	158438287	3	4	238	1	0	0	0	0	1	0	0	0	15450	768	27	1	185	1	SYNJ2	6	158438287	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	112327214	158438287	12676780	41	16547											
FNDC1	84624	broad.mit.edu	37	6	159653361	159653361	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:159653361C>T	uc010kjv.3	+	10	2017	c.1817C>T	c.(1816-1818)aCg>aTg	p.T606M	FNDC1_uc010kjw.1_Missense_Mutation_p.T491M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	606						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCTGGCCACGCAGCCCCGC	0.706													T	159653361	C	T	159653361	3	4	238	1	0	0	0	0	1	0	0	0	5968	536	19	1	1859	1	FNDC1	6	159653361	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	1215074	159653361	11461706	42	16548											
RPS6KA2	6196	broad.mit.edu	37	6	166844032	166844032	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:166844032C>T	uc003qvd.1	-	17	1678	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	RPS6KA2_uc011ego.1_Missense_Mutation_p.R408H|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R408H|RPS6KA2_uc003qvb.1_Missense_Mutation_p.R497H|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R505H	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	497	Protein kinase 2.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCGGAGGATGCGGTCCAGGAG	0.592													T	166844032	C	T	166844032	3	4	238	1	0	0	0	0	1	0	0	0	13651	768	27	1	735	1	RPS6KA2	6	166844032	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	7190671	166844032	4271035	43	16549											
TTLL2	83887	broad.mit.edu	37	6	167754158	167754158	+	Missense_Mutation	SNP	G	G	A	rs34053826		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:167754158G>A	uc003qvs.1	+	2	858	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	257	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			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)		TGTGATCTCCGCATCTATGTT	0.358													A	167754158	G	A	167754158	3	1	238	1	0	0	0	0	1	0	0	0	16724	1087	38	1	780	1	TTLL2	6	167754158	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	910126	167754158	3360909	44	16550											
GPR141	353345	broad.mit.edu	37	7	37780661	37780661	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:37780661G>A	uc003tfm.1	+	0	666	c.666G>A	c.(664-666)tgG>tgA	p.W222*	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	222						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGTTCTGGGCTCAGCTGA	0.433													A	37780661	G	A	37780661	4	1	238	1	0	0	0	0	0	1	0	0	6649	1241	43	3	668	3	GPR141	7	37780661	Nonsense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		37780661	121358002	45	16551											
C7orf57	136288	broad.mit.edu	37	7	48092478	48092478	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:48092478C>A	uc003toh.4	+	6	999	c.787C>A	c.(787-789)Ctc>Atc	p.L263I	C7orf57_uc003toi.4_Missense_Mutation_p.L121I	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	263										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TGCAGCCAGGCTCCAGGATGC	0.572													A	48092478	C	A	48092478	3	1	238	1	0	0	0	0	1	0	0	0	2404	797	28	5	809	5	C7orf57	7	48092478	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	10311817	48092478	111046185	46	16552											
POM121	9883	broad.mit.edu	37	7	72413425	72413425	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:72413425G>A	uc003twk.2	+	10	2893	c.2893G>A	c.(2893-2895)Gga>Aga	p.G965R	POM121_uc003twj.3_Missense_Mutation_p.G700R|POM121_uc010lam.1_Missense_Mutation_p.G700R	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	965	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATCATATCCGGGAGCCAACCC	0.647													A	72413425	G	A	72413425	3	1	238	1	0	0	0	0	1	0	0	0	12239	1233	43	3	2136	3	POM121	7	72413425	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	24320947	72413425	86725238	47	16553											
GNAT3	346562	broad.mit.edu	37	7	80088106	80088106	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:80088106C>T	uc011kgu.2	-	7	946	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	316					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						ATTTCCTTATCTTCTTTTTTT	0.323													T	80088106	C	T	80088106	3	4	238	1	0	0	0	0	1	0	0	0	6513	913	32	3	120	3	GNAT3	7	80088106	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	7674681	80088106	79050557	48	16554											
DLX6	1750	broad.mit.edu	37	7	96637111	96637111	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:96637111C>G	uc022ahu.1	+	1	598	c.598C>G	c.(598-600)Ctg>Gtg	p.L200V	DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	82					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GAGAGCCGAACTGGCAGCTTC	0.532													G	96637111	C	G	96637111	3	3	238	1	0	0	0	0	1	0	0	0	4575	564	20	5	604	5	DLX6	7	96637111	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	16549005	96637111	62501552	49	16555											
SLC26A3	1811	broad.mit.edu	37	7	107434196	107434196	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:107434196C>T	uc003ver.2	-	2	473	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SLC26A3_uc003ves.2_Missense_Mutation_p.V53I	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	88					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ccttGTAGTACGGCCACAATC	0.383													T	107434196	C	T	107434196	3	4	238	1	0	0	0	0	1	0	0	0	14518	536	19	1	2108	1	SLC26A3	7	107434196	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	10797085	107434196	51704467	50	16556											
ATP6V0A4	50617	broad.mit.edu	37	7	138432176	138432176	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:138432176G>T	uc003vuf.3	-	11	1552	c.1314C>A	c.(1312-1314)gaC>gaA	p.D438E	ATP6V0A4_uc003vug.3_Missense_Mutation_p.D438E|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.D438E	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	438					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCACCTCATTGTCTGTCTTCT	0.428													T	138432176	G	T	138432176	3	4	238	1	0	0	0	0	1	0	0	0	1170	1368	48	5	1248	5	ATP6V0A4	7	138432176	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	30997980	138432176	20706487	51	16557											
OR2A12	346525	broad.mit.edu	37	7	143792752	143792752	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:143792752C>T	uc011kty.2	+	0	552	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTCCGTATTCAAATTGGCCT	0.493													T	143792752	C	T	143792752	2	4	238	1	0	0	0	0	0	0	0	1	10975	825	29	3		3	OR2A12	7	143792752	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	5360576	143792752	15345911	52	16558											
OR2A7	401427	broad.mit.edu	37	7	143956670	143956670	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:143956670C>T	uc011kuc.2	-	0	52	c.52G>A	c.(52-54)Gtt>Att	p.V18I	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P17S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CTTGGGCCAACGGGAAATCCC	0.498													T	143956670	C	T	143956670	3	4	238	1	0	0	0	0	1	0	0	0	10982	536	19	1	883	1	OR2A7	7	143956670	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	163918	143956670	15181993	53	16559											
CYP7A1	1581	broad.mit.edu	37	8	59409723	59409723	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:59409723C>T	uc003xtm.4	-	2	411	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	116					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTCCATCCATCGGGTCAATGC	0.418									Neonatal Giant Cell Hepatitis				T	59409723	C	T	59409723	2	4	238	1	0	0	0	0	0	0	0	1	4196	871	31	2		2	CYP7A1	8	59409723	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08		59409723	86954299	54	16560											
TRPA1	8989	broad.mit.edu	37	8	72948586	72948586	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:72948586T>A	uc003xza.3	-	20	2667	c.2492A>T	c.(2491-2493)cAg>cTg	p.Q831L	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	831						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)	ACATTGCCACTGCAGATGAGC	0.353													A	72948586	T	A	72948586	3	1	238	1	0	0	0	0	1	0	0	0	16574	1580	55	5	895	5	TRPA1	8	72948586	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	13538863	72948586	73415436	55	16561											
TMEM70	54968	broad.mit.edu	37	8	74888704	74888704	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:74888704delT	uc003yab.3	+	0	328	c.188delT	c.(187-189)ctcfs	p.L63fs	TMEM70_uc022awa.1_Non-coding_Transcript|TMEM70_uc003yac.3_Frame_Shift_Del_p.L63fs	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			GCGCGCCTTCTCCGGCGTCCG	0.766													-	74888704	T	-	74888704	7	5	238	1	0	1	0	1	0	0	0	0	16196	1551	54	0	190	0	TMEM70	8	74888704	Frame_Shift_Del	DEL	T	TCGA-32-4211-01A-01D-1353-08	1940118	74888704	71475318	56	16562											
ZNF623	9831	broad.mit.edu	37	8	144733275	144733275	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:144733275G>A	uc003yzd.2	+	0	1322	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	ZNF623_uc011lkp.1_Silent_p.A371A|ZNF623_uc003yzc.2_Silent_p.A371A	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTGGGAAAGCGTTTCTCCAGA	0.478													A	144733275	G	A	144733275	2	1	238	1	0	0	0	0	0	0	0	1	18044	1132	40	1		1	ZNF623	8	144733275	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	69844571	144733275	1630747	57	16563											
KIAA0020	9933	broad.mit.edu	37	9	2829880	2829880	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr9:2829880G>A	uc003zhp.1	-	7	842	c.746C>T	c.(745-747)gCg>gTg	p.A249V	KIAA0020_uc003zhq.1_Missense_Mutation_p.A248V	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	249	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGATGCTTCCGCATGCCGCAG	0.443													A	2829880	G	A	2829880	3	1	238	1	0	0	0	0	1	0	0	0	8152	1087	38	1	1244	1	KIAA0020	9	2829880	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		2829880	138383551	58	16564											
OR1L4	254973	broad.mit.edu	37	9	125486747	125486747	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr9:125486747G>A	uc004bmu.1	+	0	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCCCTGTTCCGCGTGCTACTT	0.478													A	125486747	G	A	125486747	3	1	238	1	0	0	0	0	1	0	0	0	10965	1087	38	1	481	1	OR1L4	9	125486747	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	122656867	125486747	15726684	59	16565											
ARMC3	219681	broad.mit.edu	37	10	23235138	23235138	+	Silent	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:23235138A>G	uc001irm.4	+	2	197	c.114A>G	c.(112-114)gaA>gaG	p.E38E	ARMC3_uc010qcv.2_Silent_p.E38E|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	38							binding	p.P37E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCTCCAGAAGAGGAAATTT	0.303													G	23235138	A	G	23235138	2	3	238	1	0	0	0	0	0	0	0	1	952	69	3	4		4	ARMC3	10	23235138	Silent	SNP	A	TCGA-32-4211-01A-01D-1353-08		23235138	112299609	60	16566											
ARMC4	55130	broad.mit.edu	37	10	28283881	28283881	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:28283881G>A	uc009xky.3	-	1	289	c.191C>T	c.(190-192)gCg>gTg	p.A64V	ARMC4_uc001itz.3_Missense_Mutation_p.A64V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	64							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGCTGAGGGCGCCAAACTTGT	0.358													A	28283881	G	A	28283881	3	1	238	1	0	0	0	0	1	0	0	0	953	1087	38	1	3019	1	ARMC4	10	28283881	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	5048743	28283881	107250866	61	16567											
DNTT	1791	broad.mit.edu	37	10	98084132	98084132	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:98084132G>A	uc001kmf.3	+	5	1030	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	DNTT_uc001kmg.3_Missense_Mutation_p.R287Q	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	287	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAATTTACACGAATGCAGAAA	0.453													A	98084132	G	A	98084132	3	1	238	1	0	0	0	0	1	0	0	0	4680	1058	37	2	882	2	DNTT	10	98084132	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	69800251	98084132	37450615	62	16568											
ITPRIP	85450	broad.mit.edu	37	10	106075308	106075308	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:106075308C>T	uc001kyf.3	-	2	955	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	ITPRIP_uc001kye.3_Missense_Mutation_p.V168M|ITPRIP_uc001kyg.3_Missense_Mutation_p.V168M|ITPRIP_uc021pxv.1_Missense_Mutation_p.V168M	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	168						plasma membrane		p.V168M(2)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AAGTCATCCACGAAGCCTTCC	0.622													T	106075308	C	T	106075308	3	4	238	1	0	0	0	0	1	0	0	0	7923	536	19	1	1145	1	ITPRIP	10	106075308	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	7991176	106075308	29459439	63	16569											
MRGPRX2	117194	broad.mit.edu	37	11	19077216	19077216	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:19077216A>G	uc001mph.3	-	1	822	c.734T>C	c.(733-735)cTa>cCa	p.L245P	MRGPRX2_uc021qer.1_Missense_Mutation_p.L245P	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	245					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCATAATATTAGGAACCACTG	0.498													G	19077216	A	G	19077216	3	3	238	1	0	0	0	0	1	0	0	0	9767	420	15	4	262	4	MRGPRX2	11	19077216	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08		19077216	115929300	64	16570											
C11orf94	143678	broad.mit.edu	37	11	45928455	45928455	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:45928455A>G	uc001nbs.4	-	1	177	c.140T>C	c.(139-141)cTg>cCg	p.L47P		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	Homo sapiens chromosome 11 open reading frame 94 (C11orf94), mRNA.	47						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						CGAGAGTTCCAGGGGGGCGGA	0.617													G	45928455	A	G	45928455	3	3	238	1	0	0	0	0	1	0	0	0	1673	188	7	4	164	4	C11orf94	11	45928455	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08	26851239	45928455	89078061	65	16571											
SMTNL1	219537	broad.mit.edu	37	11	57314061	57314061	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:57314061G>C	uc021qjh.1	+	5	1278	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	426										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGACGCCTTTGACTACGCAGA	0.587													C	57314061	G	C	57314061	3	2	238	1	0	0	0	0	1	0	0	0	14815	1290	45	5	1356	5	SMTNL1	11	57314061	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	11385606	57314061	77692455	66	16572											
NUMA1	4926	broad.mit.edu	37	11	71729532	71729532	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:71729532C>T	uc001orl.1	-	10	942	c.770G>A	c.(769-771)cGc>cAc	p.R257H	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R257H|NUMA1_uc001orm.1_Missense_Mutation_p.R257H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R257H|NUMA1_uc001oro.1_Missense_Mutation_p.R257H|NUMA1_uc009ysy.2_Missense_Mutation_p.R257H|NUMA1_uc001orp.3_Missense_Mutation_p.R257H|NUMA1_uc001orq.3_Missense_Mutation_p.R257H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	257					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCGGTCAATGCGCTGCTGCAT	0.557			T	RARA	APL								T	71729532	C	T	71729532	3	4	238	1	0	0	0	0	1	0	0	0	10750	768	27	1	5645	1	NUMA1	11	71729532	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	14415471	71729532	63276984	67	16573											
ADAMTS20	80070	broad.mit.edu	37	12	43846340	43846340	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:43846340C>G	uc010skx.2	-	12	1919	c.1919G>C	c.(1918-1920)aGg>aCg	p.R640T		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	640	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGGAAGCCACCTCACATTAGA	0.368													G	43846340	C	G	43846340	3	3	238	1	0	0	0	0	1	0	0	0	266	681	24	5	3920	5	ADAMTS20	12	43846340	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		43846340	90005555	68	16574											
DCTN2	10540	broad.mit.edu	37	12	57939864	57939864	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:57939864C>T	uc021qzn.1	-	1	184	c.52G>A	c.(52-54)Gat>Aat	p.D18N	DCTN2_uc001som.1_Missense_Mutation_p.D18N|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	18					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TCATAAACATCTGGCTCATTC	0.517													T	57939864	C	T	57939864	3	4	238	1	0	0	0	0	1	0	0	0	4307	913	32	3	1206	3	DCTN2	12	57939864	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	14093524	57939864	75912031	69	16575											
TMTC2	160335	broad.mit.edu	37	12	83251229	83251229	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251229C>G	uc001szt.3	+	1	956	c.524C>G	c.(523-525)tCa>tGa	p.S175*	TMTC2_uc001szr.1_Nonsense_Mutation_p.S175*|TMTC2_uc001szs.1_Nonsense_Mutation_p.S175*|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	175						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTCCTGGGGTCAGGACTGTGC	0.507													G	83251229	C	G	83251229	4	3	238	1	0	0	0	0	0	1	0	0	16258	838	29	5	530	5	TMTC2	12	83251229	Nonsense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	25311365	83251229	50600666	70	16576											
TMTC2	160335	broad.mit.edu	37	12	83251308	83251308	+	Silent	SNP	C	C	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251308C>G	uc001szt.3	+	1	1035	c.603C>G	c.(601-603)gtC>gtG	p.V201V	TMTC2_uc001szr.1_Silent_p.V201V|TMTC2_uc001szs.1_Silent_p.V201V|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	201						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTATGATGTCTTTGTCTTTC	0.443													G	83251308	C	G	83251308	2	3	238	1	0	0	0	0	0	0	0	1	16258	900	32	5		5	TMTC2	12	83251308	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	79	83251308	50600587	71	16577	21	2									
TMTC2	160335	broad.mit.edu	37	12	83251314	83251314	+	Silent	SNP	C	C	G	rs138847027		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251314C>G	uc001szt.3	+	1	1041	c.609C>G	c.(607-609)gtC>gtG	p.V203V	TMTC2_uc001szr.1_Silent_p.V203V|TMTC2_uc001szs.1_Silent_p.V203V|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	203						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATGTCTTTGTCTTTCACAGGC	0.428													G	83251314	C	G	83251314	2	3	238	1	0	0	0	0	0	0	0	1	16258	900	32	5		5	TMTC2	12	83251314	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	6	83251314	50600581	72	16578	21	2									
HVCN1	84329	broad.mit.edu	37	12	111089040	111089040	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:111089040C>A	uc001trs.1	-	5	790	c.625G>T	c.(625-627)Gtg>Ttg	p.V209L	HVCN1_uc001trq.1_Missense_Mutation_p.V209L|HVCN1_uc001trt.1_Missense_Mutation_p.V209L|HVCN1_uc010syd.1_Missense_Mutation_p.V189L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	209					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATCCGGGCCACCCGCCACAGC	0.602													A	111089040	C	A	111089040	3	1	238	1	0	0	0	0	1	0	0	0	7462	507	18	5	208	5	HVCN1	12	111089040	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	27837726	111089040	22762855	73	16579											
TBX5	6910	broad.mit.edu	37	12	114832609	114832609	+	Silent	SNP	C	C	T	rs139329918	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:114832609C>T	uc001tvo.3	-	5	1095	c.600G>A	c.(598-600)gcG>gcA	p.A200A	TBX5_uc001tvp.3_Silent_p.A200A|TBX5_uc001tvq.3_Silent_p.A150A|TBX5_uc010syv.2_Silent_p.A200A	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	200					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A200A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAGTGCAGAACGCTGTATTTT	0.433													T	114832609	C	T	114832609	2	4	238	1	0	0	0	0	0	0	0	1	15658	523	19	1		1	TBX5	12	114832609	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	3743569	114832609	19019286	74	16580											
GCN1L1	10985	broad.mit.edu	37	12	120596393	120596393	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:120596393G>A	uc001txo.3	-	24	2789	c.2776C>T	c.(2776-2778)Cgc>Tgc	p.R926C		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	926					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAGCAGGCGCAGGGTCACG	0.582													A	120596393	G	A	120596393	3	1	238	1	0	0	0	0	1	0	0	0	6299	1087	38	1	5375	1	GCN1L1	12	120596393	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	5763784	120596393	13255502	75	16581											
SYT16	83851	broad.mit.edu	37	14	62547880	62547880	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:62547880G>A	uc001xfu.1	+	3	1519	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	441	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TACGCTGCCCGGAAGATGACC	0.567													A	62547880	G	A	62547880	3	1	238	1	0	0	0	0	1	0	0	0	15469	1116	39	2	1336	2	SYT16	14	62547880	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		62547880	44801660	76	16582											
NRXN3	9369	broad.mit.edu	37	14	80130234	80130234	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:80130234C>T	uc001xun.3	+	13	2930	c.2439C>T	c.(2437-2439)aaC>aaT	p.N813N	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Silent_p.N181N|NRXN3_uc010asw.3_Silent_p.N181N|NRXN3_uc001xur.4_Silent_p.N181N	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	181					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCACCAGGAACGGCGGCAACG	0.488													T	80130234	C	T	80130234	2	4	238	1	0	0	0	0	0	0	0	1	10667	535	19	1		1	NRXN3	14	80130234	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	17582354	80130234	27219306	77	16583											
JAG2	3714	broad.mit.edu	37	14	105609172	105609172	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:105609172C>T	uc001yqg.3	-	25	3981	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T	JAG2_uc001yqf.3_Missense_Mutation_p.A597T|JAG2_uc001yqh.3_Missense_Mutation_p.A1155T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1193					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AACTTCTCCGCCTCCAGGGAG	0.706													T	105609172	C	T	105609172	3	4	238	1	0	0	0	0	1	0	0	0	7935	739	26	3	143	3	JAG2	14	105609172	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	25478938	105609172	1740368	78	16584											
SLC28A2	9153	broad.mit.edu	37	15	45556870	45556870	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:45556870G>A	uc001zva.2	+	6	671	c.606G>A	c.(604-606)gtG>gtA	p.V202V		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	202					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.V202V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GGAGGACAGTGTTTTCGGGCC	0.433													A	45556870	G	A	45556870	2	1	238	1	0	0	0	0	0	0	0	1	14532	1364	48	3		3	SLC28A2	15	45556870	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08		45556870	56974522	79	16585											
HERC1	8925	broad.mit.edu	37	15	63970125	63970125	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:63970125C>T	uc002amp.3	-	36	7137	c.6989G>A	c.(6988-6990)cGc>cAc	p.R2330H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2330					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			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						CGTGGCATGGCGCCCAGTTTG	0.527													T	63970125	C	T	63970125	3	4	238	1	0	0	0	0	1	0	0	0	7057	768	27	1	7764	1	HERC1	15	63970125	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	18413255	63970125	38561267	80	16586											
TLE3	7090	broad.mit.edu	37	15	70347545	70347545	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:70347545G>A	uc002asl.2	-	13	1731	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	TLE3_uc002ask.2_Missense_Mutation_p.A404V|TLE3_uc010ukd.1_Missense_Mutation_p.A467V|TLE3_uc010bil.1_Missense_Mutation_p.A474V|TLE3_uc002asn.2_Missense_Mutation_p.A465V|TLE3_uc002asm.2_Missense_Mutation_p.A477V|TLE3_uc002asp.2_Missense_Mutation_p.A469V|TLE3_uc002aso.2_Missense_Mutation_p.A472V	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	477					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A477T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCTGCCGGGCGTGCCTCGG	0.642													A	70347545	G	A	70347545	3	1	238	1	0	0	0	0	1	0	0	0	15937	1203	42	3	912	3	TLE3	15	70347545	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	6377420	70347545	32183847	81	16587											
NOD2	64127	broad.mit.edu	37	16	50763750	50763750	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:50763750C>T	uc002egm.1	+	10	3093	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	NOD2_uc010vgq.1_Silent_p.T41T	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	996					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTGCATCACCTACCTAGGGG	0.502													T	50763750	C	T	50763750	2	4	238	1	0	0	0	0	0	0	0	1	10517	668	24	3		3	NOD2	16	50763750	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08		50763750	39591003	82	16588											
KLHL36	79786	broad.mit.edu	37	16	84691222	84691222	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:84691222C>A	uc002fig.3	+	2	950	c.809C>A	c.(808-810)gCc>gAc	p.A270D	KLHL36_uc010chl.3_Missense_Mutation_p.A269D	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	270										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCGAGGAGGCCGTGCGCTAC	0.677													A	84691222	C	A	84691222	3	1	238	1	0	0	0	0	1	0	0	0	8389	739	26	5	815	5	KLHL36	16	84691222	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	33927472	84691222	5663531	83	16589											
ZC3H18	124245	broad.mit.edu	37	16	88643657	88643657	+	Silent	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:88643657G>A	uc010voz.2	+	1	326	c.126G>A	c.(124-126)ggG>ggA	p.G42G	ZC3H18_uc021tmm.1_Silent_p.G42G|ZC3H18_uc010voy.1_Silent_p.G42G|ZC3H18_uc002fky.3_Silent_p.G42G|ZC3H18_uc010vpa.1_Silent_p.G42G	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	42						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ACGGGGCGGGGGTGAGGGCTT	0.612													A	88643657	G	A	88643657	2	1	238	1	0	0	0	0	0	0	0	1	17565	1219	43	3		3	ZC3H18	16	88643657	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	3952435	88643657	1711096	84	16590											
NLRP1	22861	broad.mit.edu	37	17	5461860	5461860	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:5461860A>G	uc002gci.3	-	3	2711	c.2156T>C	c.(2155-2157)cTc>cCc	p.L719P	NLRP1_uc002gcg.1_Missense_Mutation_p.L719P|NLRP1_uc002gch.4_Missense_Mutation_p.L719P|NLRP1_uc002gck.3_Missense_Mutation_p.L719P|NLRP1_uc002gcj.3_Missense_Mutation_p.L719P|NLRP1_uc002gcl.3_Missense_Mutation_p.L719P|NLRP1_uc010clh.3_Missense_Mutation_p.L719P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	719					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAAGCAGTGGAGGGACTCCAG	0.537													G	5461860	A	G	5461860	3	3	238	1	0	0	0	0	1	0	0	0	10471	304	11	4	2396	4	NLRP1	17	5461860	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08		5461860	75733350	85	16591											
DNAH2	146754	broad.mit.edu	37	17	7643075	7643075	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:7643075G>A	uc002giu.1	+	7	1209	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	DNAH2_uc002git.3_Missense_Mutation_p.A481T|DNAH2_uc010vuk.2_Missense_Mutation_p.A399T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	399	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A399V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTATCACTTCGCCCGCTGGGA	0.488													A	7643075	G	A	7643075	3	1	238	1	0	0	0	0	1	0	0	0	4602	1087	38	1	1225	1	DNAH2	17	7643075	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2181215	7643075	73552135	86	16592											
TP53I13	90313	broad.mit.edu	37	17	27899699	27899699	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:27899699C>T	uc002hee.3	+	5	1091	c.1053C>T	c.(1051-1053)agC>agT	p.S351S		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	351						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CAGCGGACAGCCAGGACACAG	0.701													T	27899699	C	T	27899699	2	4	238	1	0	0	0	0	0	0	0	1	16383	738	26	3		3	TP53I13	17	27899699	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	20256624	27899699	53295511	87	16593											
RHBDL3	162494	broad.mit.edu	37	17	30611787	30611787	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:30611787C>T	uc010csx.1	+	2	259	c.245C>T	c.(244-246)gCc>gTc	p.A82V	RHBDL3_uc002hhe.1_Missense_Mutation_p.A82V|RHBDL3_uc010csw.1_Missense_Mutation_p.A74V|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	82	EF-hand 2.				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGGCTCTTGCCGACAGCCAC	0.592													T	30611787	C	T	30611787	3	4	238	1	0	0	0	0	1	0	0	0	13323	739	26	3	255	3	RHBDL3	17	30611787	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	2712088	30611787	50583423	88	16594											
ZNF207	7756	broad.mit.edu	37	17	30685561	30685561	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:30685561C>T	uc010csz.3	+	3	564	c.217C>T	c.(217-219)Cct>Tct	p.P73S	ZNF207_uc002hhj.4_Missense_Mutation_p.P70S|ZNF207_uc002hhh.4_Missense_Mutation_p.P70S|ZNF207_uc002hhi.4_Missense_Mutation_p.P70S|ZNF207_uc002hhk.1_Missense_Mutation_p.P70S|ZNF207_uc002hhl.1_5'Flank			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	70						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AAATGCAATACCTGGAAGAAC	0.333													T	30685561	C	T	30685561	3	4	238	1	0	0	0	0	1	0	0	0	17762	507	18	3	218	3	ZNF207	17	30685561	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	73774	30685561	50509649	89	16595											
KRT9	3857	broad.mit.edu	37	17	39725742	39725742	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:39725742C>T	uc002hxe.4	-	3	1046	c.980G>A	c.(979-981)cGt>cAt	p.R327H	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	327	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.R327H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATACTCCTGACGCATGTCATT	0.502													T	39725742	C	T	39725742	3	4	238	1	0	0	0	0	1	0	0	0	8501	536	19	1	907	1	KRT9	17	39725742	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	9040181	39725742	41469468	90	16596											
ACLY	47	broad.mit.edu	37	17	40065323	40065323	+	Splice_Site	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:40065323T>G	uc002hyg.3	-	6	700	c.537_splice	c.e6-1	p.E179_splice	ACLY_uc002hyh.3_Splice_Site_p.E179_splice|ACLY_uc002hyi.3_Splice_Site_p.E233_splice|ACLY_uc010wfx.2_Splice_Site_p.E233_splice|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	179					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCAGAATTCTAGAGGTGGGA	0.562													G	40065323	T	G	40065323	5	3	238	1	0	0	0	0	0	0	1	0	143	1536	53	5	2866	5	ACLY	17	40065323	Splice_Site	SNP	T	TCGA-32-4211-01A-01D-1353-08	339581	40065323	41129887	91	16597											
SMCHD1	23347	broad.mit.edu	37	18	2752502	2752502	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr18:2752502G>A	uc002klm.4	+	33	4487	c.4298G>A	c.(4297-4299)tGt>tAt	p.C1433Y	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1433					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACATTTAGTTGTAATAAAATA	0.303													A	2752502	G	A	2752502	3	1	238	1	0	0	0	0	1	0	0	0	14788	1377	48	3	4432	3	SMCHD1	18	2752502	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		2752502	75324746	92	16598											
LAMA1	284217	broad.mit.edu	37	18	7036079	7036079	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr18:7036079C>T	uc002knm.3	-	12	1840	c.1746G>A	c.(1744-1746)gcG>gcA	p.A582A	LAMA1_uc010wzj.2_Silent_p.A58A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	582	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCGCCAAACGCAGTCAGCT	0.463													T	7036079	C	T	7036079	2	4	238	1	0	0	0	0	0	0	0	1	8605	523	19	1		1	LAMA1	18	7036079	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	4283577	7036079	71041169	93	16599											
PTBP1	5725	broad.mit.edu	37	19	804908	804908	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:804908C>T	uc002lpr.2	+	6	792	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_uc002lps.2_Intron|PTBP1_uc002lpp.2_Missense_Mutation_p.A229V|PTBP1_uc002lpq.2_Missense_Mutation_p.A229V|MIR4745_uc021uly.1_5'Flank	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	229	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTGCAGTATGCGGACCCCGTG	0.662													T	804908	C	T	804908	3	4	238	1	0	0	0	0	1	0	0	0	12725	768	27	1	712	1	PTBP1	19	804908	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		804908	58324075	94	16600											
SBNO2	22904	broad.mit.edu	37	19	1119057	1119057	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:1119057G>A	uc002lrk.4	-	13	1718	c.1480C>T	c.(1480-1482)Ccg>Tcg	p.P494S	SBNO2_uc002lrj.4_Missense_Mutation_p.P437S|SBNO2_uc010dse.3_Missense_Mutation_p.P487S|SBNO2_uc010dsf.3_Missense_Mutation_p.P437S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	494					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GGGGCCAGCGGGATCTCCTCG	0.657													A	1119057	G	A	1119057	3	1	238	1	0	0	0	0	1	0	0	0	13863	1232	43	3	2696	3	SBNO2	19	1119057	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	314149	1119057	58009926	95	16601											
TLE2	7089	broad.mit.edu	37	19	3013710	3013710	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:3013710G>A	uc010dth.3	-	10	1096	c.833C>T	c.(832-834)tCt>tTt	p.S278F	TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Missense_Mutation_p.S277F|TLE2_uc010xhc.2_Missense_Mutation_p.S155F|TLE2_uc010dti.3_Missense_Mutation_p.S291F|TLE2_uc010xhd.1_Missense_Mutation_p.S185F	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	277	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCCAAGGCTAGAGGCCAAGGA	0.642													A	3013710	G	A	3013710	3	1	238	1	0	0	0	0	1	0	0	0	15936	942	33	3	1441	3	TLE2	19	3013710	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	1894653	3013710	56115273	96	16602											
MUC16	94025	broad.mit.edu	37	19	8997446	8997446	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:8997446T>G	uc002mkp.3	-	58	41180	c.40976A>C	c.(40975-40977)aAg>aCg	p.K13659T	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.K476T|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13661	SEA 11.			Missing (in Ref. 3; AAK74120).	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						GGTGTTGAACTTCCTGGAGCC	0.567													G	8997446	T	G	8997446	3	3	238	1	0	0	0	0	1	0	0	0	9973	1609	56	5	2651	5	MUC16	19	8997446	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	5983736	8997446	50131537	97	16603											
ZNF527	84503	broad.mit.edu	37	19	37880558	37880558	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:37880558G>A	uc010efk.1	+	4	1718	c.1607G>A	c.(1606-1608)aGt>aAt	p.S536N	ZNF527_uc002ogf.3_Missense_Mutation_p.S504N|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCCTTCAGTTGTGGCTCA	0.398													A	37880558	G	A	37880558	3	1	238	1	0	0	0	0	1	0	0	0	17965	1029	36	3	1621	3	ZNF527	19	37880558	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	28883112	37880558	21248425	98	16604											
ZNF229	7772	broad.mit.edu	37	19	44933459	44933459	+	Silent	SNP	A	A	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:44933459A>G	uc002oze.1	-	5	1931	c.1497T>C	c.(1495-1497)agT>agC	p.S499S	ZNF229_uc010ejk.1_Silent_p.S153S|ZNF229_uc010ejl.1_Silent_p.S493S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACGAGTTGTGACTGAAACCTT	0.517													G	44933459	A	G	44933459	2	3	238	1	0	0	0	0	0	0	0	1	17779	272	10	4		4	ZNF229	19	44933459	Silent	SNP	A	TCGA-32-4211-01A-01D-1353-08	7052901	44933459	14195524	99	16605											
PRIC285	85441	broad.mit.edu	37	20	62198405	62198405	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr20:62198405C>T	uc002yfm.2	-	6	3198	c.2306G>A	c.(2305-2307)gGc>gAc	p.G769D	PRIC285_uc002yfl.1_Missense_Mutation_p.G200D	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	769					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGGAACCTTGCCCCTGGCGTG	0.652													T	62198405	C	T	62198405	3	4	238	1	0	0	0	0	1	0	0	0	12485	739	26	3	5699	3	PRIC285	20	62198405	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		62198405	827115	100	16606											
KRTAP20-2	337976	broad.mit.edu	37	21	32007617	32007617	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:32007617G>A	uc011adg.2	+	0	35	c.35G>A	c.(34-36)cGt>cAt	p.R12H		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	12						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGTGGTCTGCGTTATGGCTAT	0.522													A	32007617	G	A	32007617	3	1	238	1	0	0	0	0	1	0	0	0	8537	1145	40	1	37	1	KRTAP20-2	21	32007617	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		32007617	16122278	101	16607											
ICOSLG	23308	broad.mit.edu	37	21	45657002	45657002	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:45657002C>T	uc010gpp.1	-	2	288	c.154G>A	c.(154-156)Gta>Ata	p.V52I	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Missense_Mutation_p.V52I|ICOSLG_uc011afc.2_Intron	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	52	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCAATATACGTAAACATCA	0.522													T	45657002	C	T	45657002	3	4	238	1	0	0	0	0	1	0	0	0	7487	536	19	1	774	1	ICOSLG	21	45657002	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	13649385	45657002	2472893	102	16608											
PCBP3	54039	broad.mit.edu	37	21	47355174	47355174	+	Silent	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:47355174C>T	uc010gqb.3	+	13	1127	c.864C>T	c.(862-864)gaC>gaT	p.D288D	PCBP3_uc002zhp.2_Silent_p.D268D|PCBP3_uc002zhq.2_Silent_p.D288D|PCBP3_uc002zhs.2_Silent_p.D262D|PCBP3_uc002zht.2_Silent_p.D278D	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	288					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGTCTGGACGCCAGCCCAC	0.577													T	47355174	C	T	47355174	2	4	238	1	0	0	0	0	0	0	0	1	11502	535	19	1		1	PCBP3	21	47355174	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	1698172	47355174	774721	103	16609											
RFPL2	10739	broad.mit.edu	37	22	32586778	32586778	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:32586778C>T	uc003amg.3	-	4	2054	c.1118G>A	c.(1117-1119)cGt>cAt	p.R373H	RFPL2_uc003ame.3_Missense_Mutation_p.R312H|RFPL2_uc003amf.3_Missense_Mutation_p.R283H|RFPL2_uc003amh.3_Missense_Mutation_p.R283H	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	373							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTCCCCAGGACGGACTGGAGC	0.463													T	32586778	C	T	32586778	3	4	238	1	0	0	0	0	1	0	0	0	13254	536	19	1	22	1	RFPL2	22	32586778	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		32586778	18717788	104	16610											
RFPL3	10738	broad.mit.edu	37	22	32756800	32756800	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:32756800G>A	uc003amj.3	+	1	1140	c.935G>A	c.(934-936)cGt>cAt	p.R312H	RFPL3_uc010gwn.3_Missense_Mutation_p.R283H|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	312							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCTCCAGTCCGTCCTGGGGAG	0.458													A	32756800	G	A	32756800	3	1	238	1	0	0	0	0	1	0	0	0	13255	1145	40	1	941	1	RFPL3	22	32756800	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	170022	32756800	18547766	105	16611											
WNK3	65267	broad.mit.edu	37	X	54275317	54275317	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:54275317C>A	uc004dtc.2	-	16	3903	c.3464G>T	c.(3463-3465)tGt>tTt	p.C1155F	WNK3_uc004dtd.2_Missense_Mutation_p.C1155F	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1155					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTCACTGGACAGGAGAGGGT	0.458													A	54275317	C	A	54275317	3	1	238	1	0	0	0	0	1	0	0	0	17376	478	17	5	1970	5	WNK3	23	54275317	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		54275317	100995243	106	16612											
SPIN3	169981	broad.mit.edu	37	X	57021377	57021377	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:57021377T>G	uc022bxv.1	-	0	4	c.4A>C	c.(4-6)Aag>Cag	p.K2Q	SPIN3_uc004duu.4_Non-coding_Transcript|SPIN3_uc004duw.4_Non-coding_Transcript|SPIN3_uc004duv.4_Non-coding_Transcript|SPIN3_uc010nkj.2_Missense_Mutation_p.K2Q|SPIN3_uc004dux.1_Missense_Mutation_p.K2Q	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	2					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						AACGGGGTCTTCATGCCTGCG	0.537													G	57021377	T	G	57021377	3	3	238	1	0	0	0	0	1	0	0	0	15054	1792	62	5	776	5	SPIN3	23	57021377	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	2746060	57021377	98249183	107	16613											
TAF1	6872	broad.mit.edu	37	X	70680548	70680548	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:70680548T>G	uc004dzu.4	+	36	5342	c.5291T>G	c.(5290-5292)aTg>aGg	p.M1764R	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.M1785R|TAF1_uc004dzv.4_Missense_Mutation_p.M972R|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Missense_Mutation_p.M189R|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1764	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAACCCCGCATGCTTCAGGAG	0.483													G	70680548	T	G	70680548	3	3	238	1	0	0	0	0	1	0	0	0	15510	1464	51	5	5500	5	TAF1	23	70680548	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	13659171	70680548	84590012	108	16614											
CHD5	26038	broad.mit.edu	37	1	6171855	6171855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:6171855C>T	uc001amb.2	-	35	5340	c.5229G>A	c.(5227-5229)tgG>tgA	p.W1743*	CHD5_uc001alz.2_Nonsense_Mutation_p.W600*|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1743					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCGCCAGCAGCCAGTAGTCAT	0.637													T	6171855	C	T	6171855	4	4	239	1	0	0	0	0	0	1	0	0	3328	740	26	3	659	3	CHD5	1	6171855	Nonsense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		6171855	243078766	1	16615											
CDA	978	broad.mit.edu	37	1	20944973	20944973	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:20944973C>T	uc001bdk.3	+	3	532	c.353C>T	c.(352-354)aCc>aTc	p.T118I	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	118					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GTGTACATGACCAAGCCGGAT	0.582													T	20944973	C	T	20944973	3	4	239	1	0	0	0	0	1	0	0	0	3052	507	18	3	367	3	CDA	1	20944973	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	14773118	20944973	228305648	2	16616											
HNRNPR	10236	broad.mit.edu	37	1	23660032	23660032	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:23660032C>T	uc001bgr.4	-	4	636	c.477G>A	c.(475-477)gtG>gtA	p.V159V	HNRNPR_uc010odw.2_Intron|HNRNPR_uc009vql.3_Intron|HNRNPR_uc001bgp.4_Silent_p.V159V|HNRNPR_uc001bgs.4_Silent_p.V58V|HNRNPR_uc009vqk.3_Silent_p.V58V|HNRNPR_uc010odx.2_Silent_p.V58V	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	159						catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTCCAGGTTGCACGCCAGAGT	0.453													T	23660032	C	T	23660032	2	4	239	1	0	0	0	0	0	0	0	1	7272	697	25	3		3	HNRNPR	1	23660032	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	2715059	23660032	225590589	3	16617											
TXNIP	10628	broad.mit.edu	37	1	145439907	145439907	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:145439907C>T	uc001enn.4	+	2	794	c.453C>T	c.(451-453)gtC>gtT	p.V151V	TXNIP_uc010oys.2_Silent_p.V96V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	151					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGTGGATGTCAATACCCCTG	0.433													T	145439907	C	T	145439907	2	4	239	1	0	0	0	0	0	0	0	1	16800	813	29	3		3	TXNIP	1	145439907	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	121779875	145439907	103810714	4	16618											
RXFP4	339403	broad.mit.edu	37	1	155911855	155911855	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:155911855A>C	uc010pgs.2	+	0	376	c.355A>C	c.(355-357)Acg>Ccg	p.T119P		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 4 (RXFP4), mRNA.	119						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GATGGTTCTGACGGCCACTGT	0.632													C	155911855	A	C	155911855	3	2	239	1	0	0	0	0	1	0	0	0	13762	275	10	5	357	5	RXFP4	1	155911855	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	10471948	155911855	93338766	5	16619											
NME7	29922	broad.mit.edu	37	1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:169256604C>T	uc001gfu.3	-	6	929	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_uc001gft.3_Missense_Mutation_p.A195T|NME7_uc010plq.2_Non-coding_Transcript|NME7_uc001gfv.1_Missense_Mutation_p.A231T	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.	231					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	p.A231T(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358													T	169256604	C	T	169256604	3	4	239	1	0	0	0	0	1	0	0	0	10496	739	26	3	463	3	NME7	1	169256604	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	13344749	169256604	79994017	6	16620											
IGFN1	91156	broad.mit.edu	37	1	201182608	201182608	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:201182608C>T	uc001gwc.3	+	11	8717	c.8587C>T	c.(8587-8589)Cgg>Tgg	p.R2863W	IGFN1_uc001gwb.3_Intron	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGATCAGAGCCGGGAGCCCCC	0.582													T	201182608	C	T	201182608	3	4	239	1	0	0	0	0	1	0	0	0	7590	643	23	2	8629	2	IGFN1	1	201182608	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	31926004	201182608	48068013	7	16621											
KDM5B	10765	broad.mit.edu	37	1	202722182	202722182	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:202722182delT	uc009xag.3	-	12	1776	c.1660delA	c.(1660-1662)accfs	p.T554fs	KDM5B_uc001gyf.3_Frame_Shift_Del_p.T518fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.T360fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	518	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCATACCAGGTTTTTGGCTCA	0.423													-	202722182	T	-	202722182	7	5	239	1	0	1	0	1	0	0	0	0	8134	1725	60	0	3146	0	KDM5B	1	202722182	Frame_Shift_Del	DEL	T	TCGA-32-4213-01A-01D-1353-08	1539574	202722182	46528439	8	16622											
TIA1	7072	broad.mit.edu	37	2	70457951	70457951	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:70457951delA	uc002sgj.4	-	2	376	c.159delT	c.(157-159)tttfs	p.F53fs	TIA1_uc002sgk.4_Frame_Shift_Del_p.F53fs|TIA1_uc002sgl.4_Non-coding_Transcript|TIA1_uc002sgm.3_Frame_Shift_Del_p.F53fs|TIA1_uc010yqt.2_Frame_Shift_Del_p.F53fs	NM_022173	NP_071505	P31483	TIA1_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein (TIA1), transcript variant 2, mRNA.	53	RRM 1.				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GATGCTCATGAAACTCCACAA	0.398													-	70457951	A	-	70457951	7	5	239	1	0	1	0	1	0	0	0	0	15884	243	9	0	1045	0	TIA1	2	70457951	Frame_Shift_Del	DEL	A	TCGA-32-4213-01A-01D-1353-08		70457951	172741422	9	16623											
YSK4	80122	broad.mit.edu	37	2	135738775	135738775	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:135738775T>C	uc002tue.1	-	8	3567	c.3536A>G	c.(3535-3537)gAg>gGg	p.E1179G	YSK4_uc002tuf.1_Missense_Mutation_p.E361G|YSK4_uc010fnc.1_Missense_Mutation_p.E313G|YSK4_uc010fnd.1_Missense_Mutation_p.E1066G|YSK4_uc010zbg.1_Missense_Mutation_p.E311G|YSK4_uc021vpz.1_Missense_Mutation_p.E40G|YSK4_uc002tuh.4_Missense_Mutation_p.E907G|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1179	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACACAGTTCTCATGGAGATA	0.413													C	135738775	T	C	135738775	3	2	239	1	0	0	0	0	1	0	0	0	17492	1551	54	4	458	4	YSK4	2	135738775	Missense_Mutation	SNP	T	TCGA-32-4213-01A-01D-1353-08	65280824	135738775	107460598	10	16624											
TTN	7273	broad.mit.edu	37	2	179413171	179413171	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:179413171C>T	uc021vsy.1	-	287	85703	c.85478G>A	c.(85477-85479)cGt>cAt	p.R28493H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22188H|TTN_uc021vta.1_Missense_Mutation_p.R22121H|TTN_uc021vtb.1_Missense_Mutation_p.R21996H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29420	Ig-like 132.						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)			CTGCCAACTACGGCGACTTGC	0.498													T	179413171	C	T	179413171	3	4	239	1	0	0	0	0	1	0	0	0	16732	536	19	1	14893	1	TTN	2	179413171	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	43674396	179413171	63786202	11	16625											
SPAG16	79582	broad.mit.edu	37	2	214204919	214204919	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:214204919A>G	uc002veq.3	+	5	661	c.569A>G	c.(568-570)aAa>aGa	p.K190R	SPAG16_uc010fuz.2_Missense_Mutation_p.K41R|SPAG16_uc002ver.3_Missense_Mutation_p.K136R|SPAG16_uc010zjk.2_Missense_Mutation_p.K96R|SPAG16_uc002ves.1_Missense_Mutation_p.K159R	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	190					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAAATTCAGAAAGAACGTGAT	0.294													G	214204919	A	G	214204919	3	3	239	1	0	0	0	0	1	0	0	0	14978	14	1	4	607	4	SPAG16	2	214204919	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	34791748	214204919	28994454	12	16626											
FN1	2335	broad.mit.edu	37	2	216300455	216300455	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:216300455G>A	uc002vfa.3	-	0	337	c.71C>T	c.(70-72)aCg>aTg	p.T24M	FN1_uc002vfc.3_Missense_Mutation_p.T24M|FN1_uc002vfe.3_Missense_Mutation_p.T24M|FN1_uc002vff.3_Missense_Mutation_p.T24M|FN1_uc002vfg.3_Missense_Mutation_p.T24M|FN1_uc002vfh.3_Missense_Mutation_p.T24M|FN1_uc002vfi.3_Missense_Mutation_p.T24M|FN1_uc002vfj.3_Missense_Mutation_p.T24M|FN1_uc002vfb.3_Missense_Mutation_p.T24M|FN1_uc002vfl.3_Missense_Mutation_p.T24M	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	24					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGAGGCTCCCGTGGAGGGCAC	0.667													A	216300455	G	A	216300455	3	1	239	1	0	0	0	0	1	0	0	0	5962	1145	40	1	7579	1	FN1	2	216300455	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	2095536	216300455	26898918	13	16627											
FAM134A	79137	broad.mit.edu	37	2	220046155	220046155	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:220046155C>T	uc002vjw.4	+	6	985	c.849C>T	c.(847-849)agC>agT	p.S283S	FAM134A_uc010fwc.3_Silent_p.S76S|FAM134A_uc002vjx.3_Silent_p.S76S	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	283						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTGAAAGCGAGGCAGAGC	0.542													T	220046155	C	T	220046155	2	4	239	1	0	0	0	0	0	0	0	1	5445	767	27	1		1	FAM134A	2	220046155	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	3745700	220046155	23153218	14	16628											
SP100	6672	broad.mit.edu	37	2	231406616	231406616	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:231406616G>A	uc002vqu.1	+	27	2554	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	SP100_uc010fxp.1_Missense_Mutation_p.G123R	NM_001080391	NP_001073860	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 1, mRNA.	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAACAGAGAGGGGTCTCAGGG	0.478													A	231406616	G	A	231406616	3	1	239	1	0	0	0	0	1	0	0	0	14960	1232	43	3	3073	3	SP100	2	231406616	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	11360461	231406616	11792757	15	16629											
HDAC4	9759	broad.mit.edu	37	2	240002804	240002804	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:240002804A>G	uc002vyk.4	-	21	3514	c.2722T>C	c.(2722-2724)Ttg>Ctg	p.L908L	HDAC4_uc010fyy.3_Silent_p.L865L	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	908	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AAGGCCGCCAAGTACTCAGCG	0.602													G	240002804	A	G	240002804	2	3	239	1	0	0	0	0	0	0	0	1	7009	69	3	4		4	HDAC4	2	240002804	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	8596188	240002804	3196569	16	16630											
CHRD	8646	broad.mit.edu	37	3	184099068	184099068	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr3:184099068A>G	uc003fov.3	+	2	544	c.298A>G	c.(298-300)Aag>Gag	p.K100E	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.K100E|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	100	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCAGCTGCAAGAACATCAA	0.647													G	184099068	A	G	184099068	3	3	239	1	0	0	0	0	1	0	0	0	3372	131	5	4	308	4	CHRD	3	184099068	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08		184099068	13923362	17	16631											
RASSF6	166824	broad.mit.edu	37	4	74464408	74464408	+	Silent	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:74464408G>T	uc003hhd.1	-	2	312	c.189C>A	c.(187-189)acC>acA	p.T63T	RASSF6_uc003hhc.1_Silent_p.T31T|RASSF6_uc010iik.1_Silent_p.T31T|RASSF6_uc010iil.1_Intron	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	63					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AAATGTTATAGGTCTTCAATA	0.303													T	74464408	G	T	74464408	2	4	239	1	0	0	0	0	0	0	0	1	13090	987	35	5		5	RASSF6	4	74464408	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		74464408	116689868	18	16632											
EGF	1950	broad.mit.edu	37	4	110882086	110882086	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:110882086C>A	uc003hzy.4	+	6	1582	c.1130C>A	c.(1129-1131)tCc>tAc	p.S377Y	EGF_uc011cfu.2_Missense_Mutation_p.S335Y|EGF_uc011cfv.2_Missense_Mutation_p.S377Y	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	377	EGF-like 2; 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			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)	ACCCCTGGATCCTATTACTGC	0.398													A	110882086	C	A	110882086	3	1	239	1	0	0	0	0	1	0	0	0	4962	855	30	5	1156	5	EGF	4	110882086	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	36417678	110882086	80272190	19	16633											
DNAH5	1767	broad.mit.edu	37	5	13883072	13883072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:13883072C>A	uc003jfd.2	-	19	3157	c.3115G>T	c.(3115-3117)Gag>Tag	p.E1039*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1039	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					ATGATGCACTCCACGGCTTTG	0.537									Kartagener syndrome				A	13883072	C	A	13883072	4	1	239	1	0	0	0	0	0	1	0	0	4604	864	30	5	10999	5	DNAH5	5	13883072	Nonsense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		13883072	167032188	20	16634											
AP3B1	8546	broad.mit.edu	37	5	77473219	77473219	+	Silent	SNP	T	T	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:77473219T>G	uc003kfj.3	-	8	1109	c.984A>C	c.(982-984)ccA>ccC	p.P328P		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	328					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTTCAGATTTTGGTGATATGT	0.348									Hermansky-Pudlak syndrome				G	77473219	T	G	77473219	2	3	239	1	0	0	0	0	0	0	0	1	744	1799	63	5		5	AP3B1	5	77473219	Silent	SNP	T	TCGA-32-4213-01A-01D-1353-08	63590147	77473219	103442041	21	16635											
GABRG2	2566	broad.mit.edu	37	5	161524689	161524689	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:161524689C>T	uc010jjc.3	+	3	731	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	GABRG2_uc003lyy.4_Missense_Mutation_p.R125C|GABRG2_uc003lyz.4_Missense_Mutation_p.R125C|GABRG2_uc011dej.2_Missense_Mutation_p.R30C	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	125					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.R125C(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GTATGACAGACGTTTGAAATT	0.328													T	161524689	C	T	161524689	3	4	239	1	0	0	0	0	1	0	0	0	6172	536	19	1	387	1	GABRG2	5	161524689	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	84051470	161524689	19390571	22	16636											
HLA-DRA	3122	broad.mit.edu	37	6	32410459	32410459	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:32410459C>T	uc003obh.3	+	1	426	c.317C>T	c.(316-318)cCg>cTg	p.P106L	HLA-DRA_uc003obi.3_Missense_Mutation_p.P106L	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	106	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AACTATACTCCGATCACCAAT	0.463									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				T	32410459	C	T	32410459	3	4	239	1	0	0	0	0	1	0	0	0	7207	652	23	2	323	2	HLA-DRA	6	32410459	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		32410459	138704608	23	16637											
DNAH8	1769	broad.mit.edu	37	6	38773311	38773311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:38773311delA	uc021yzh.1	+	22	3198	c.3089delA	c.(3088-3090)gacfs	p.D1030fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.D813fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.P1030T(2)		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						GAAAACAATGACTATGAAGCT	0.308													-	38773311	A	-	38773311	7	5	239	1	0	1	0	1	0	0	0	0	4607	275	10	0	2512	0	DNAH8	6	38773311	Frame_Shift_Del	DEL	A	TCGA-32-4213-01A-01D-1353-08	6362852	38773311	132341756	24	16638											
HEY2	23493	broad.mit.edu	37	6	126080811	126080811	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:126080811G>A	uc003qad.3	+	4	1068	c.877G>A	c.(877-879)Gca>Aca	p.A293T	HEY2_uc011ebr.2_Missense_Mutation_p.A247T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	293	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCCCCCAAACGCAGCAGCAGC	0.647													A	126080811	G	A	126080811	3	1	239	1	0	0	0	0	1	0	0	0	7079	1087	38	1	895	1	HEY2	6	126080811	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	87307500	126080811	45034256	25	16639											
USP42	84132	broad.mit.edu	37	7	6189851	6189851	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:6189851C>T	uc011jwo.1	+	12	2147	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	USP42_uc010kth.1_Missense_Mutation_p.A608V|USP42_uc011jwp.2_Missense_Mutation_p.A675V|USP42_uc011jwq.2_Missense_Mutation_p.A482V|USP42_uc011jwr.1_Missense_Mutation_p.A520V	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	675					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.A675V(1)|p.A803V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AACGGCCTAGCGCCTGATGGT	0.562													T	6189851	C	T	6189851	3	4	239	1	0	0	0	0	1	0	0	0	17070	768	27	1	2070	1	USP42	7	6189851	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		6189851	152948812	26	16640											
ZNF479	90827	broad.mit.edu	37	7	57194352	57194352	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:57194352C>T	uc010kzo.3	-	2	384	c.113G>A	c.(112-114)cGg>cAg	p.R38Q		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATATAAATTCCGCTGAGCACA	0.398													T	57194352	C	T	57194352	3	4	239	1	0	0	0	0	1	0	0	0	17930	652	23	2	1473	2	ZNF479	7	57194352	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	51004501	57194352	101944311	27	16641											
WBSCR17	64409	broad.mit.edu	37	7	70597882	70597882	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:70597882G>A	uc003tvy.3	+	0	94	c.94G>A	c.(94-96)Gcg>Acg	p.A32T		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	32						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCCATCGCGGTGCGCAG	0.637													A	70597882	G	A	70597882	3	1	239	1	0	0	0	0	1	0	0	0	17261	1087	38	1	96	1	WBSCR17	7	70597882	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	13403530	70597882	88540781	28	16642											
MUC17	140453	broad.mit.edu	37	7	100684511	100684511	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:100684511C>T	uc003uxp.1	+	2	9867	c.9814C>T	c.(9814-9816)Cca>Tca	p.P3272S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3272	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					TACCAGCATGCCAACCTCAAC	0.502													T	100684511	C	T	100684511	3	4	239	1	0	0	0	0	1	0	0	0	9974	739	26	3	9824	3	MUC17	7	100684511	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	30086629	100684511	58454152	29	16643											
FOXP2	93986	broad.mit.edu	37	7	114303551	114303551	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:114303551G>A	uc003vhb.3	+	14	2190	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.A631T|FOXP2_uc003vha.3_Missense_Mutation_p.A514T|FOXP2_uc011kmv.2_Missense_Mutation_p.A605T|FOXP2_uc011kmu.2_Missense_Mutation_p.A623T|FOXP2_uc010ljz.2_Missense_Mutation_p.A421T|FOXP2_uc003vhe.1_Missense_Mutation_p.A176T	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	606					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGGCTATGGAGCAGCTCTTAA	0.303													A	114303551	G	A	114303551	3	1	239	1	0	0	0	0	1	0	0	0	6027	971	34	3	2037	3	FOXP2	7	114303551	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	13619040	114303551	44835112	30	16644											
TMEM209	84928	broad.mit.edu	37	7	129843871	129843871	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:129843871A>C	uc003vpn.2	-	1	206	c.83T>G	c.(82-84)gTg>gGg	p.V28G	TMEM209_uc010lmc.1_Missense_Mutation_p.V28G|TMEM209_uc003vpo.2_Missense_Mutation_p.V28G	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GGCTAAGACCACTTTCCTAGC	0.408													C	129843871	A	C	129843871	3	2	239	1	0	0	0	0	1	0	0	0	16131	159	6	5	1658	5	TMEM209	7	129843871	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	15540320	129843871	29294792	31	16645											
TAS2R5	54429	broad.mit.edu	37	7	141490298	141490298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:141490298delT	uc003vwr.1	+	0	282	c.137delT	c.(136-138)ctcfs	p.L46fs		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	46					chemosensory behavior|sensory perception of taste		taste receptor activity	p.L46V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCATATAACCTCATTATCCTG	0.468													-	141490298	T	-	141490298	7	5	239	1	0	1	0	1	0	0	0	0	15580	1551	54	0	139	0	TAS2R5	7	141490298	Frame_Shift_Del	DEL	T	TCGA-32-4213-01A-01D-1353-08	11646427	141490298	17648365	32	16646											
EPHX2	2053	broad.mit.edu	37	8	27362585	27362585	+	Silent	SNP	G	G	A	rs146337543		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr8:27362585G>A	uc003xfu.3	+	3	540	c.459G>A	c.(457-459)tcG>tcA	p.S153S	EPHX2_uc010lut.1_Silent_p.S153S|EPHX2_uc010luv.3_Silent_p.S87S|EPHX2_uc003xfv.3_Silent_p.S100S|EPHX2_uc010luw.3_Silent_p.S87S|EPHX2_uc011lam.1_Silent_p.S9S	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	153	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TGATAGAGTCGTGTCAGGTGG	0.547													A	27362585	G	A	27362585	2	1	239	1	0	0	0	0	0	0	0	1	5180	1132	40	1		1	EPHX2	8	27362585	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		27362585	119001437	33	16647											
SLC7A13	157724	broad.mit.edu	37	8	87229698	87229698	+	Splice_Site	SNP	C	C	T	rs139960114		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr8:87229698C>T	uc003ydq.1	-	3	1277	c.1179_splice	c.e3+1	p.K393_splice	SLC7A13_uc003ydr.1_Splice_Site_p.K384_splice	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	393						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCAATTTTACCTTATAAGGT	0.289													T	87229698	C	T	87229698	5	4	239	1	0	0	0	0	0	0	1	0	14695	521	18	3	240	3	SLC7A13	8	87229698	Splice_Site	SNP	C	TCGA-32-4213-01A-01D-1353-08	59867113	87229698	59134324	34	16648											
DOCK8	81704	broad.mit.edu	37	9	441311	441311	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:441311A>G	uc003zgf.2	+	40	5361	c.5249A>G	c.(5248-5250)gAg>gGg	p.E1750G	DOCK8_uc022bcu.1_Missense_Mutation_p.E1682G|DOCK8_uc010mgv.3_Missense_Mutation_p.E1650G|DOCK8_uc010mgu.3_Missense_Mutation_p.E1052G|DOCK8_uc003zgk.2_Missense_Mutation_p.E1208G	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1750	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACAGTTAATGAGGTCTACAAG	0.473													G	441311	A	G	441311	3	3	239	1	0	0	0	0	1	0	0	0	4693	304	11	4	5411	4	DOCK8	9	441311	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08		441311	140772120	35	16649											
UNC13B	10497	broad.mit.edu	37	9	35396552	35396552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:35396552C>A	uc003zwr.3	+	25	3433	c.3141C>A	c.(3139-3141)taC>taA	p.Y1047*	UNC13B_uc003zwq.3_Nonsense_Mutation_p.Y1047*	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1047	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.Y1047C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACAATGAATACGTGCGGGATC	0.552													A	35396552	C	A	35396552	4	1	239	1	0	0	0	0	0	1	0	0	16982	547	19	5	3243	5	UNC13B	9	35396552	Nonsense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	34955241	35396552	105816879	36	16650											
CACNA1B	774	broad.mit.edu	37	9	140953153	140953153	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:140953153A>G	uc004cog.3	+	28	4586	c.4441A>G	c.(4441-4443)Ata>Gta	p.I1481V	CACNA1B_uc022bqn.1_Missense_Mutation_p.I1481V|CACNA1B_uc011mfd.2_Missense_Mutation_p.I1082V|CACNA1B_uc004coi.3_Missense_Mutation_p.I695V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1481					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CATGGCCATGATAGCCCTCAA	0.562													G	140953153	A	G	140953153	3	3	239	1	0	0	0	0	1	0	0	0	2539	333	12	4	4555	4	CACNA1B	9	140953153	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	105556601	140953153	260278	37	16651											
GPRIN2	9721	broad.mit.edu	37	10	46999948	46999948	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:46999948G>A	uc001jec.3	+	2	1203	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	GPRIN2_uc021ppt.1_Silent_p.A356A	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	356										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCTGGAAGCGCCTGCAGCCC	0.677													A	46999948	G	A	46999948	2	1	239	1	0	0	0	0	0	0	0	1	6730	1074	38	1		1	GPRIN2	10	46999948	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		46999948	88534799	38	16652											
TYSND1	219743	broad.mit.edu	37	10	71905229	71905229	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:71905229G>A	uc001jqr.3	-	0	1268	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	TYSND1_uc001jqq.3_Intron|TYSND1_uc001jqs.3_Missense_Mutation_p.H372Y|TYSND1_uc001jqt.3_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA.	372	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GGGGACACGTGCCGACAGGTC	0.677													A	71905229	G	A	71905229	3	1	239	1	0	0	0	0	1	0	0	0	16814	1319	46	3	602	3	TYSND1	10	71905229	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	24905281	71905229	63629518	39	16653											
PTEN	5728	broad.mit.edu	37	10	89720805	89720806	+	Frame_Shift_Ins	INS	-	-	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:89720805_89720806insT	uc001kfb.3	+	7	1988_1989	c.956_957insT	c.(955-957)actfs	p.T319fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T319fs*1(60)|p.L318fs*2(45)|p.0?(37)|p.T319fs*6(12)|p.T319fs*24(8)|p.R55fs*1(5)|p.T319del(4)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319fs*4(2)|p.T319fs*5(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.G165_*404del(1)|p.L318fs*3(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.L318F(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGTACTTACTTTAACAAAAA	0.332		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720806	-	T	89720805	7	5	239	1	0	1	1	0	0	0	0	0	12738	565	20	0	986	0	PTEN	10	89720805	Frame_Shift_Ins	INS	-	TCGA-32-4213-01A-01D-1353-08	17815576	89720805	45813942	40	16654											
TAF5	6877	broad.mit.edu	37	10	105145152	105145152	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:105145152G>A	uc001kwv.3	+	7	1757	c.1734G>A	c.(1732-1734)ttG>ttA	p.L578L	TAF5_uc010qqq.2_Intron	NM_006951	NP_008882	Q15542	TAF5_HUMAN	Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.	578					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTACTTGTTTGGTGGGATATA	0.423													A	105145152	G	A	105145152	2	1	239	1	0	0	0	0	0	0	0	1	15525	1339	47	3		3	TAF5	10	105145152	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	15424347	105145152	30389595	41	16655											
TCF7L2	6934	broad.mit.edu	37	10	114711317	114711317	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:114711317T>C	uc021pyi.1	+	2	839	c.332T>C	c.(331-333)cTg>cCg	p.L111P	TCF7L2_uc001lah.3_Missense_Mutation_p.L111P|TCF7L2_uc010qro.2_Missense_Mutation_p.L111P|TCF7L2_uc001lae.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrm.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrn.2_Missense_Mutation_p.L111P|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyj.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyk.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyl.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrp.2_Missense_Mutation_p.L111P|TCF7L2_uc021pym.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyn.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyo.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyp.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrq.2_Missense_Mutation_p.L111P|TCF7L2_uc001lac.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrk.2_Missense_Mutation_p.L111P|TCF7L2_uc001lad.4_Missense_Mutation_p.L111P|TCF7L2_uc001lag.4_Missense_Mutation_p.L111P|TCF7L2_uc001laf.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrl.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrr.2_Missense_Mutation_p.L5P|TCF7L2_uc010qrs.2_Missense_Mutation_p.L5P|TCF7L2_uc010qrt.2_Missense_Mutation_p.L5P	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	111					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATCCCCGACCTGACGAGCCCC	0.716			T	VTI1A	colorectal								C	114711317	T	C	114711317	3	2	239	1	0	0	0	0	1	0	0	0	15695	1580	55	4	342	4	TCF7L2	10	114711317	Missense_Mutation	SNP	T	TCGA-32-4213-01A-01D-1353-08	9566165	114711317	20823430	42	16656											
CD6	923	broad.mit.edu	37	11	60785322	60785322	+	Silent	SNP	G	G	C	rs137857404		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:60785322G>C	uc001nqq.3	+	10	1899	c.1674G>C	c.(1672-1674)ccG>ccC	p.P558P	CD6_uc001nqp.3_Silent_p.P558P|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.P526P|CD6_uc001nqt.3_Silent_p.P517P	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	558					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	p.H557Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGTATCACCCGAGGAGCAACA	0.552													C	60785322	G	C	60785322	2	2	239	1	0	0	0	0	0	0	0	1	3028	1045	37	5		5	CD6	11	60785322	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		60785322	74221194	43	16657											
ARHGEF17	9828	broad.mit.edu	37	11	73076830	73076830	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:73076830A>T	uc001otu.3	+	19	5854	c.5833A>T	c.(5833-5835)Acc>Tcc	p.T1945S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1945					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			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGTCGTCCTCACCATGCCCAC	0.657													T	73076830	A	T	73076830	3	4	239	1	0	0	0	0	1	0	0	0	900	159	6	5	5911	5	ARHGEF17	11	73076830	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	12291508	73076830	61929686	44	16658											
KDM4D	55693	broad.mit.edu	37	11	94731887	94731887	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:94731887C>T	uc021qow.1	+	0	1351	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	KDM4D_uc001pfe.3_Missense_Mutation_p.R451C	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	451					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAATGGCAGACGTGGTCGTGG	0.602													T	94731887	C	T	94731887	3	4	239	1	0	0	0	0	1	0	0	0	8131	536	19	1	1353	1	KDM4D	11	94731887	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	21655057	94731887	40274629	45	16659											
SLCO1B3	338821	broad.mit.edu	37	12	21201833	21201833	+	Silent	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:21201833C>A	uc010sil.2	+						SLCO1B3_uc010sim.2_Silent_p.T441T|SLCO1B3_uc010sin.2_Silent_p.T394T			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TAACCTTGACCTATGATGGGT	0.318													A	21201833	C	A	21201833	2	1	239	1	0	0	0	0	0	0	0	1	14724	668	24	5		5	SLCO1B3	12	21201833	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08		21201833	112650062	46	16660											
AAAS	8086	broad.mit.edu	37	12	53709176	53709176	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:53709176G>A	uc001scr.4	-	3	505	c.342C>T	c.(340-342)gcC>gcT	p.A114A	AAAS_uc001scs.4_Silent_p.A114A	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	114					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGAGTGCCAGGGCCCAGCCGG	0.562													A	53709176	G	A	53709176	2	1	239	1	0	0	0	0	0	0	0	1	8	1219	43	3		3	AAAS	12	53709176	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	32507343	53709176	80142719	47	16661											
GALNT4	282809	broad.mit.edu	37	12	89864247	89864247	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:89864247A>G	uc001tbc.3	-	6	1068	c.701T>C	c.(700-702)aTa>aCa	p.I234T	GALNT4_uc001tba.3_Missense_Mutation_p.I192T|GALNT4_uc001tbb.3_Missense_Mutation_p.I104T|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Intron	NM_172240	NP_001186706	Q8N4A0	GALT4_HUMAN	Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.	0	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ATGGAATGATATGCAATTAAC	0.388													G	89864247	A	G	89864247	3	3	239	1	0	0	0	0	1	0	0	0	6215	449	16	4		4	GALNT4	12	89864247	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	36155071	89864247	43987648	48	16662											
TESC	54997	broad.mit.edu	37	12	117486887	117486887	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:117486887G>A	uc001twh.3	-	3	450	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Missense_Mutation_p.R69W	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	96					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		TCGATGGGCCGGAAGTAGGAC	0.587													A	117486887	G	A	117486887	3	1	239	1	0	0	0	0	1	0	0	0	15763	1115	39	2	378	2	TESC	12	117486887	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	27622640	117486887	16365008	49	16663											
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:123780522G>A	uc010tap.2	-	30	4115	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Missense_Mutation_p.A1371V|SBNO1_uc010taq.2_Missense_Mutation_p.A323V	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(4)|p.A1371A(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433													A	123780522	G	A	123780522	3	1	239	1	0	0	0	0	1	0	0	0	13862	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	6293635	123780522	10071373	50	16664											
GLT1D1	144423	broad.mit.edu	37	12	129360490	129360490	+	Missense_Mutation	SNP	G	G	A	rs146263464	byFrequency	TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:129360490G>A	uc010tbh.1	+	1	76	c.67G>A	c.(67-69)Gtt>Att	p.V23I	GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	34					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCACGTGTGCGTTTTGAAGGA	0.473													A	129360490	G	A	129360490	3	1	239	1	0	0	0	0	1	0	0	0	6465	1145	40	1	106	1	GLT1D1	12	129360490	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	5579968	129360490	4491405	51	16665											
TUBA3C	7278	broad.mit.edu	37	13	19751585	19751585	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr13:19751585C>T	uc009zzj.3	-	3	643	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	180					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCACCACGGCCGTGGAGACC	0.547													T	19751585	C	T	19751585	3	4	239	1	0	0	0	0	1	0	0	0	16743	739	26	3	822	3	TUBA3C	13	19751585	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		19751585	95418293	52	16666											
RB1	5925	broad.mit.edu	37	13	48954327	48954328	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr13:48954327_48954328delAT	uc001vcb.3	+	15	1614_1615	c.1448_1449delAT	c.(1447-1449)catfs	p.H483fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	483	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.H483fs*9(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACATTTTTCATATGTCTTTAT	0.238		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48954328	AT	-	48954327	7	5	239	1	0	1	0	1	0	0	0	0	13098	217	8	0	1510	0	RB1	13	48954327	Frame_Shift_Del	DEL	AT	TCGA-32-4213-01A-01D-1353-08	29202742	48954327	66215551	53	16667											
HOMEZ	57594	broad.mit.edu	37	14	23746303	23746303	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:23746303G>A	uc001wja.2	-	1	282	c.134C>T	c.(133-135)cCt>cTt	p.P45L	HOMEZ_uc001wjb.2_Missense_Mutation_p.P47L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAGATTGGAGGGAGGCAGAT	0.532													A	23746303	G	A	23746303	3	1	239	1	0	0	0	0	1	0	0	0	7281	1000	35	3	1522	3	HOMEZ	14	23746303	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		23746303	83603237	54	16668											
ADAM20	8748	broad.mit.edu	37	14	70990596	70990596	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:70990596A>G	uc021rvs.1	-	0	1029	c.1029T>C	c.(1027-1029)caT>caC	p.H343H	ADAM20_uc001xme.3_Silent_p.H343H	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	293	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTGCAACATCATGTTGTAGTC	0.368													G	70990596	A	G	70990596	2	3	239	1	0	0	0	0	0	0	0	1	242	214	8	4		4	ADAM20	14	70990596	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	47244293	70990596	36358944	55	16669											
CDC42BPB	9578	broad.mit.edu	37	14	103447154	103447154	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:103447154C>A	uc001ymi.1	-	7	1328	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	366	AGC-kinase C-terminal.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGATGTGTCAGAGGGACTG	0.463													A	103447154	C	A	103447154	3	1	239	1	0	0	0	0	1	0	0	0	3073	826	29	5	4159	5	CDC42BPB	14	103447154	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	32456558	103447154	3902386	56	16670											
AHNAK2	113146	broad.mit.edu	37	14	105415172	105415172	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:105415172G>T	uc010axc.1	-	6	6736	c.6616C>A	c.(6616-6618)Ctt>Att	p.L2206I	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L2106I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2206						nucleus				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)			TCGGCGGAAAGGGGCTGAATG	0.642													T	105415172	G	T	105415172	3	4	239	1	0	0	0	0	1	0	0	0	415	1000	35	5	10775	5	AHNAK2	14	105415172	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	1968018	105415172	1934368	57	16671											
RYR3	6263	broad.mit.edu	37	15	34080624	34080624	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr15:34080624C>T	uc001zhi.3	+	66	9865	c.9795C>T	c.(9793-9795)ttC>ttT	p.F3265F	RYR3_uc010bar.3_Silent_p.F3265F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3265					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)		TCTATGCCTTCTACCCCATGC	0.557													T	34080624	C	T	34080624	2	4	239	1	0	0	0	0	0	0	0	1	13770	912	32	3		3	RYR3	15	34080624	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08		34080624	68450768	58	16672											
MAN2A2	4122	broad.mit.edu	37	15	91454437	91454437	+	Missense_Mutation	SNP	C	C	T	rs114870914	by1000genomes	TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr15:91454437C>T	uc010bnz.2	+	12	2027	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	MAN2A2_uc010boa.3_Missense_Mutation_p.R680C|MAN2A2_uc002bqc.3_Missense_Mutation_p.R638C|MAN2A2_uc010uql.2_Missense_Mutation_p.R300C|MAN2A2_uc010uqm.2_Missense_Mutation_p.R217C|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	638					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTCCCAGAGCGCACGGTGAT	0.617													T	91454437	C	T	91454437	3	4	239	1	0	0	0	0	1	0	0	0	9215	768	27	1	1958	1	MAN2A2	15	91454437	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	57373813	91454437	11076955	59	16673											
ADCY9	115	broad.mit.edu	37	16	4042213	4042213	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:4042213G>T	uc002cvx.3	-	4	2680	c.2141C>A	c.(2140-2142)cCg>cAg	p.P714Q		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	714					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAACCTCAGCGGAAGGAGAGC	0.542													T	4042213	G	T	4042213	3	4	239	1	0	0	0	0	1	0	0	0	301	1116	39	5	1948	5	ADCY9	16	4042213	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		4042213	86312540	60	16674											
SOCS1	8651	broad.mit.edu	37	16	11348719	11348719	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:11348719G>T	uc021tcz.1	-	0	617	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	RMI2_uc002daq.1_Intron|SOCS1_uc002dar.1_Missense_Mutation_p.S206Y	NM_003745	NP_003736	O15524	SOCS1_HUMAN	Homo sapiens suppressor of cytokine signaling 1 (SOCS1), mRNA.	206	SOCS box.				interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	p.S206P(1)|p.R127_*212del(1)|p.0?(1)|p.S205N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GAAGGGGAAGGAGCTCAGGTA	0.627			"F, O"		"Hodgkin Lymphoma, PMBL"								T	11348719	G	T	11348719	3	4	239	1	0	0	0	0	1	0	0	0	14913	1174	41	5	22	5	SOCS1	16	11348719	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	7306506	11348719	79006034	61	16675											
SEZ6L2	26470	broad.mit.edu	37	16	29908260	29908260	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:29908260G>A	uc010vec.2	-	2	639	c.394C>T	c.(394-396)Cca>Tca	p.P132S	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Intron|SEZ6L2_uc002dur.4_Intron|SEZ6L2_uc002duq.4_Missense_Mutation_p.P132S|SEZ6L2_uc010ved.2_Missense_Mutation_p.P88S|SEZ6L2_uc002dus.4_Missense_Mutation_p.P132S	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	132	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGGGGTGGGGCTGTGGTT	0.687													A	29908260	G	A	29908260	3	1	239	1	0	0	0	0	1	0	0	0	14144	1232	43	3	2441	3	SEZ6L2	16	29908260	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	18559541	29908260	60446493	62	16676											
CHD9	80205	broad.mit.edu	37	16	53358755	53358755	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:53358755C>A	uc002ehb.3	+	37	8806	c.8642C>A	c.(8641-8643)tCt>tAt	p.S2881Y	CHD9_uc002egy.3_Missense_Mutation_p.S2865Y|CHD9_uc002ehc.3_Missense_Mutation_p.S2866Y|CHD9_uc002ehf.3_Missense_Mutation_p.S1979Y|CHD9_uc002ehg.2_Missense_Mutation_p.S1996Y|CHD9_uc010cbw.3_Missense_Mutation_p.S947Y	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2881	Poly-Ser.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCATCTGGATCTGATAGTACA	0.388													A	53358755	C	A	53358755	3	1	239	1	0	0	0	0	1	0	0	0	3332	913	32	5	8744	5	CHD9	16	53358755	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	23450495	53358755	36995998	63	16677											
CDH8	1006	broad.mit.edu	37	16	61687800	61687800	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:61687800C>A	uc002eog.2	-	11	3067	c.2112G>T	c.(2110-2112)ttG>ttT	p.L704F		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	704					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATAAACTGCAAATCTGGTT	0.428													A	61687800	C	A	61687800	3	1	239	1	0	0	0	0	1	0	0	0	3116	709	25	5	291	5	CDH8	16	61687800	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	8329045	61687800	28666953	64	16678											
DPH1	1801	broad.mit.edu	37	17	1936938	1936938	+	Silent	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:1936938C>A	uc010vqs.2	+	0	252	c.246C>A	c.(244-246)gcC>gcA	p.A82A	DPH1_uc002fts.3_Silent_p.A72A|DPH1_uc002ftt.3_Silent_p.A67A|DPH1_uc010cjx.3_5'UTR	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	72					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCCAACAAGCCCAGGCCAAGA	0.582													A	1936938	C	A	1936938	2	1	239	1	0	0	0	0	0	0	0	1	4719	610	22	5		5	DPH1	17	1936938	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08		1936938	79258272	65	16679											
KRT38	8687	broad.mit.edu	37	17	39594785	39594785	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:39594785C>T	uc002hwq.1	-	4	1401	c.978G>A	c.(976-978)acG>acA	p.T326T		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	326	Coil 2.|Rod.					intermediate filament	structural molecule activity			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)				GGGCATTCACCGTGCATCTCA	0.597													T	39594785	C	T	39594785	2	4	239	1	0	0	0	0	0	0	0	1	8475	639	23	2		2	KRT38	17	39594785	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	37657847	39594785	41600425	66	16680											
KRT16	3868	broad.mit.edu	37	17	39768925	39768925	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:39768925G>A	uc002hxg.4	-	0	155	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.R6C	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	6	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.R6L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTGAACTGGCGGCTGCAGGTG	0.657													A	39768925	G	A	39768925	3	1	239	1	0	0	0	0	1	0	0	0	8453	1116	39	2	1437	2	KRT16	17	39768925	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	174140	39768925	41426285	67	16681											
KLHL11	55175	broad.mit.edu	37	17	40010614	40010614	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:40010614C>T	uc002hyf.1	-	1	1511	c.1505G>A	c.(1504-1506)cGg>cAg	p.R502Q		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	502						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GTATACAAACCGGTCTTCAAT	0.443													T	40010614	C	T	40010614	3	4	239	1	0	0	0	0	1	0	0	0	8367	652	23	2	625	2	KLHL11	17	40010614	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	241689	40010614	41184596	68	16682											
NPTX1	4884	broad.mit.edu	37	17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:78447110C>T	uc002jyp.1	-	2	945	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	263	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587													T	78447110	C	T	78447110	3	4	239	1	0	0	0	0	1	0	0	0	10602	768	27	1	523	1	NPTX1	17	78447110	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	38436496	78447110	2748100	69	16683											
POTEC	388468	broad.mit.edu	37	18	14533125	14533125	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr18:14533125A>G	uc010dln.3	-	4	1444	c.990T>C	c.(988-990)gaT>gaC	p.D330D	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	330										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAGAAGATACATCAACATTTT	0.373													G	14533125	A	G	14533125	2	3	239	1	0	0	0	0	0	0	0	1	12262	214	8	4		4	POTEC	18	14533125	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08		14533125	63544123	70	16684											
STXBP2	6813	broad.mit.edu	37	19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:7707143G>A	uc010xjr.2	+	8	796	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	STXBP2_uc002mha.4_Missense_Mutation_p.V240M|STXBP2_uc002mhb.4_Missense_Mutation_p.V237M|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	240					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	p.Q250H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGACCCCGTGTCCCCACT	0.607													A	7707143	G	A	7707143	3	1	239	1	0	0	0	0	1	0	0	0	15352	1145	40	1	752	1	STXBP2	19	7707143	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		7707143	51421840	71	16685											
USE1	55850	broad.mit.edu	37	19	17330166	17330166	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:17330166C>T	uc002nfo.2	+	6	627	c.567C>T	c.(565-567)gcC>gcT	p.A189A	USE1_uc010eal.1_Intron	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.	189					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						ATACCCTGGCCGcccagagtg	0.607													T	17330166	C	T	17330166	2	4	239	1	0	0	0	0	0	0	0	1	17028	639	23	2		2	USE1	19	17330166	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	9623023	17330166	41798817	72	16686											
ZNF85	7639	broad.mit.edu	37	19	21131689	21131689	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:21131689G>A	uc002npg.4	+	3	517	c.369G>A	c.(367-369)gaG>gaA	p.E123E	ZNF85_uc010ecn.3_Silent_p.E58E|ZNF85_uc010eco.3_Silent_p.E71E|ZNF85_uc002npi.3_Silent_p.E64E	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	123						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GTATGGATGAGTGTAAGATGC	0.328													A	21131689	G	A	21131689	2	1	239	1	0	0	0	0	0	0	0	1	18190	1020	36	3		3	ZNF85	19	21131689	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	3801523	21131689	37997294	73	16687											
MLL2	9757	broad.mit.edu	37	19	36223857	36223857	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:36223857T>A	uc021usv.1	+	27	6407	c.6407T>A	c.(6406-6408)cTc>cAc	p.L2136H	MLL2_uc021usu.1_Missense_Mutation_p.L950H	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	705	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GAGGAGTCACTCCCCCCGGCG	0.662			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	36223857	T	A	36223857	3	1	239	1	0	0	0	0	1	0	0	0	9621	1551	54	5		5	MLL2	19	36223857	Missense_Mutation	SNP	T	TCGA-32-4213-01A-01D-1353-08	15092168	36223857	22905126	74	16688											
TPTE	7179	broad.mit.edu	37	21	10934961	10934961	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:10934961G>T	uc002yip.1	-	14	1200	c.832C>A	c.(832-834)Cac>Aac	p.H278N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H260N|TPTE_uc002yir.1_Missense_Mutation_p.H240N|TPTE_uc010gkv.1_Missense_Mutation_p.H140N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	278	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		ACTCGATAGTGGTTTCGGTGT	0.348													T	10934961	G	T	10934961	3	4	239	1	0	0	0	0	1	0	0	0	16427	1348	47	5	863	5	TPTE	21	10934961	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		10934961	37194934	75	16689											
C21orf7	56911	broad.mit.edu	37	21	30547106	30547106	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:30547106G>A	uc002ynf.3	+	8	899	c.622G>A	c.(622-624)Gag>Aag	p.E208K	C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Missense_Mutation_p.E208K|C21orf7_uc010glo.3_Missense_Mutation_p.E53K|C21orf7_uc002yng.3_Missense_Mutation_p.E108K|C21orf7_uc010glp.3_Non-coding_Transcript	NM_020152	NP_064537	P57077	TAK1L_HUMAN	Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.	208						cytosol|nucleus	protein binding	p.F207F(1)		ovary(2)|prostate(1)	3				Colorectal(56;0.248)		TCGGGAATTCGAGGCTCTGAC	0.517													A	30547106	G	A	30547106	3	1	239	1	0	0	0	0	1	0	0	0	2132	1059	37	2	648	2	C21orf7	21	30547106	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	19612145	30547106	17582789	76	16690											
SON	6651	broad.mit.edu	37	21	34925244	34925244	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:34925244A>G	uc002yse.1	+	2	3756	c.3707A>G	c.(3706-3708)gAt>gGt	p.D1236G	SON_uc002ysb.1_Missense_Mutation_p.D1236G|SON_uc002ysc.3_Missense_Mutation_p.D1236G|SON_uc002ysd.3_Missense_Mutation_p.D227G|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.D882G|SON_uc002ysg.3_Missense_Mutation_p.D227G	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1236					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCAGCATCAGATCCCTCAGTT	0.478													G	34925244	A	G	34925244	3	3	239	1	0	0	0	0	1	0	0	0	14926	333	12	4	3717	4	SON	21	34925244	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	4378138	34925244	13204651	77	16691											
TRAPPC10	7109	broad.mit.edu	37	21	45503036	45503036	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:45503036A>G	uc002zea.3	+	13	2260	c.2091A>G	c.(2089-2091)agA>agG	p.R697R	TRAPPC10_uc010gpo.3_Silent_p.R408R|TRAPPC10_uc011afa.2_Silent_p.R116R	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	697					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTATCTGCAGAAACGTCCACA	0.547													G	45503036	A	G	45503036	2	3	239	1	0	0	0	0	0	0	0	1	16454	243	9	4		4	TRAPPC10	21	45503036	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	10577792	45503036	2626859	78	16692											
COL6A2	1292	broad.mit.edu	37	21	47531965	47531965	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:47531965C>T	uc002zia.1	+	2	270	c.188C>T	c.(187-189)aCg>aTg	p.T63M	COL6A2_uc002zhz.1_Missense_Mutation_p.T63M|COL6A2_uc002zhy.1_Missense_Mutation_p.T63M	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	63	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.T63M(4)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGTCCCCCACGGACATCCTG	0.612													T	47531965	C	T	47531965	3	4	239	1	0	0	0	0	1	0	0	0	3700	536	19	1	194	1	COL6A2	21	47531965	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	2028929	47531965	597930	79	16693											
YDJC	150223	broad.mit.edu	37	22	21984158	21984158	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr22:21984158G>A	uc002zvb.2	-	0	183	c.146C>T	c.(145-147)gCg>gTg	p.A49V	YDJC_uc002zvc.2_Non-coding_Transcript|YDJC_uc002zvd.2_Missense_Mutation_p.A49V|CCDC116_uc011aih.1_5'Flank|CCDC116_uc002zve.3_5'Flank	NM_001017964	NP_001017964	A8MPS7	YDJC_HUMAN	Homo sapiens YdjC homolog (bacterial) (YDJC), mRNA.	49					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds					Colorectal(54;0.105)					CAGCTCCGCCGCGCTCTCCGT	0.731													A	21984158	G	A	21984158	3	1	239	1	0	0	0	0	1	0	0	0	17468	1087	38	1	845	1	YDJC	22	21984158	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		21984158	29320408	80	16694											
TYMP	1890	broad.mit.edu	37	22	50967631	50967631	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr22:50967631G>A	uc003bme.4	-	2	543	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Silent_p.S117S|TYMP_uc003bmc.4_Silent_p.S117S|TYMP_uc010hbd.3_Silent_p.S117S|TYMP_uc003bmd.4_Silent_p.S117S|TYMP_uc011arz.1_Silent_p.S117S	NM_001953	NP_001944	P19971	TYPH_HUMAN	Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	117					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	CACCCCCTGTGGAATGCTTGT	0.637													A	50967631	G	A	50967631	2	1	239	1	0	0	0	0	0	0	0	1	16808	1335	47	3		3	TYMP	22	50967631	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	28983473	50967631	336935	81	16695											
FAM9A	171482	broad.mit.edu	37	X	8766427	8766427	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:8766427G>T	uc022bsk.1	-	3	450	c.314C>A	c.(313-315)cCt>cAt	p.P105H	FAM9A_uc004csg.3_Missense_Mutation_p.P105H	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	105						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TTCAGCAAAAGGTTCTCTTTC	0.423													T	8766427	G	T	8766427	3	4	239	1	0	0	0	0	1	0	0	0	5659	1000	35	5	708	5	FAM9A	23	8766427	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		8766427	146504133	82	16696											
MED14	9282	broad.mit.edu	37	X	40562700	40562700	+	Silent	SNP	T	T	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:40562700T>C	uc004dex.4	-	10	1547	c.1407A>G	c.(1405-1407)ggA>ggG	p.G469G		NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	469	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTTACCAAGTCCATAAAGCA	0.303													C	40562700	T	C	40562700	2	2	239	1	0	0	0	0	0	0	0	1	9432	1654	58	4		4	MED14	23	40562700	Silent	SNP	T	TCGA-32-4213-01A-01D-1353-08	31796273	40562700	114707860	83	16697											
PFKFB1	5207	broad.mit.edu	37	X	54986282	54986282	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:54986282C>T	uc004dty.1	-	3	433	c.362G>A	c.(361-363)aGc>aAc	p.S121N	PFKFB1_uc010nkd.1_Missense_Mutation_p.S107N|PFKFB1_uc011mol.1_Missense_Mutation_p.S56N	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	121	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCCTCATGGCTGAGATAGTT	0.433													T	54986282	C	T	54986282	3	4	239	1	0	0	0	0	1	0	0	0	11760	797	28	3	1097	3	PFKFB1	23	54986282	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	14423582	54986282	100284278	84	16698											
SPIN3	169981	broad.mit.edu	37	X	57020821	57020821	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:57020821C>T	uc022bxv.1	-	0	560	c.560G>A	c.(559-561)cGc>cAc	p.R187H	SPIN3_uc004duu.4_Intron|SPIN3_uc004duw.4_Intron|SPIN3_uc004duv.4_Intron|SPIN3_uc010nkj.2_Missense_Mutation_p.R187H|SPIN3_uc004dux.1_Missense_Mutation_p.R187H	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	187					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TTGAAGGATGCGGAGGTCACC	0.443													T	57020821	C	T	57020821	3	4	239	1	0	0	0	0	1	0	0	0	15054	768	27	1	220	1	SPIN3	23	57020821	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	2034539	57020821	98249739	85	16699											
ZC3H12B	340554	broad.mit.edu	37	X	64722249	64722249	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:64722249C>T	uc010nko.3	+	4	1738	c.1671C>T	c.(1669-1671)atC>atT	p.I557I		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	546							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTGAACATCAACAGCATGC	0.483													T	64722249	C	T	64722249	2	4	239	1	0	0	0	0	0	0	0	1	17559	816	29	3		3	ZC3H12B	23	64722249	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	7701428	64722249	90548311	86	16700											
TGIF2LX	90316	broad.mit.edu	37	X	89177514	89177514	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:89177514G>A	uc022bzr.1	+	0	430	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	TGIF2LX_uc004efe.3_Missense_Mutation_p.A144T	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	144						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P143S(1)|p.P143Q(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						GTCTGTGCCGGCCAAGTCAGG	0.582													A	89177514	G	A	89177514	3	1	239	1	0	0	0	0	1	0	0	0	15824	1203	42	3	432	3	TGIF2LX	23	89177514	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	24455265	89177514	66093046	87	16701											
NRK	203447	broad.mit.edu	37	X	105181458	105181458	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:105181458C>A	uc004emd.3	+	21	3986	c.3683C>A	c.(3682-3684)tCt>tAt	p.S1228Y	NRK_uc010npc.1_Missense_Mutation_p.S896Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1228	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAACCCGATCTAATCTATAT	0.353										HNSCC(51;0.14)			A	105181458	C	A	105181458	3	1	239	1	0	0	0	0	1	0	0	0	10655	913	32	5	3769	5	NRK	23	105181458	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	16003944	105181458	50089102	88	16702											
COL4A6	1288	broad.mit.edu	37	X	107404862	107404862	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:107404862A>G	uc004enw.4	-	41	4426	c.4323T>C	c.(4321-4323)ccT>ccC	p.P1441P	COL4A6_uc004env.4_Silent_p.P1440P|COL4A6_uc011msn.2_Silent_p.P1416P|COL4A6_uc010npk.3_Silent_p.P1383P|COL4A6_uc011msm.1_5'Flank	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1441	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAAATCCTGGAGGGCCTTGCA	0.607									Alport syndrome with Diffuse Leiomyomatosis				G	107404862	A	G	107404862	2	3	239	1	0	0	0	0	0	0	0	1	3695	291	11	4		4	COL4A6	23	107404862	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	2223404	107404862	47865698	89	16703											
FUCA1	2517	broad.mit.edu	37	1	24186383	24186383	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:24186383C>G	uc001bie.3	-	3	756	c.673G>C	c.(673-675)Gat>Cat	p.D225H	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	225					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CAGATCAGATCAGGTTTATAG	0.403													G	24186383	C	G	24186383	3	3	240	1	0	0	0	0	1	0	0	0	6094	826	29	5	747	5	FUCA1	1	24186383	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		24186383	225064238	1	16704											
PODN	127435	broad.mit.edu	37	1	53544261	53544261	+	Missense_Mutation	SNP	G	G	A	rs138913141		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:53544261G>A	uc001cuv.3	+	7	1391	c.1223G>A	c.(1222-1224)cGg>cAg	p.R408Q	PODN_uc010onr.2_Missense_Mutation_p.R389Q|PODN_uc010ons.2_Missense_Mutation_p.R266Q|PODN_uc001cuw.3_Missense_Mutation_p.R389Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	360					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCCTCAAGCGGTTGCACACG	0.647													A	53544261	G	A	53544261	3	1	240	1	0	0	0	0	1	0	0	0	12178	1116	39	2	1253	2	PODN	1	53544261	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	29357878	53544261	195706360	2	16705											
INADL	10207	broad.mit.edu	37	1	62299351	62299351	+	Missense_Mutation	SNP	C	C	G	rs112258254	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:62299351C>G	uc001dab.3	+	16	2120	c.2006C>G	c.(2005-2007)aCt>aGt	p.T669S	INADL_uc009waf.1_Missense_Mutation_p.T669S|INADL_uc001daa.2_Missense_Mutation_p.T669S|INADL_uc001dad.3_Missense_Mutation_p.T366S|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	669					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGTCAATACTGAAGAAGAT	0.363													G	62299351	C	G	62299351	3	3	240	1	0	0	0	0	1	0	0	0	7731	565	20	5	2068	5	INADL	1	62299351	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	8755090	62299351	186951270	3	16706											
TTC24	164118	broad.mit.edu	37	1	156554756	156554756	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:156554756G>A	uc021pbf.1	+	6	1375	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	447							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGCAGGTGTCCAGCACAG	0.642													A	156554756	G	A	156554756	3	1	240	1	0	0	0	0	1	0	0	0	16689	1377	48	3	1361	3	TTC24	1	156554756	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	94255405	156554756	92695865	4	16707											
ETV3L	440695	broad.mit.edu	37	1	157068529	157068529	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:157068529G>T	uc001fqq.2	-	2	740	c.455C>A	c.(454-456)cCa>cAa	p.P152Q		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CACCAGCGCTGGCCGACACAG	0.652													T	157068529	G	T	157068529	3	4	240	1	0	0	0	0	1	0	0	0	5280	1348	47	5	642	5	ETV3L	1	157068529	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	513773	157068529	92182092	5	16708											
PLEKHA6	22874	broad.mit.edu	37	1	204214763	204214763	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:204214763G>A	uc001hau.3	-	13	2329	c.2012C>T	c.(2011-2013)aCg>aTg	p.T671M	PLEKHA6_uc009xau.1_5'Flank|PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	671										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGTGTCCGTGCCCCGGGA	0.602													A	204214763	G	A	204214763	3	1	240	1	0	0	0	0	1	0	0	0	12060	1145	40	1	1170	1	PLEKHA6	1	204214763	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	47146234	204214763	45035858	6	16709											
OR2T12	127064	broad.mit.edu	37	1	248458330	248458330	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:248458330C>T	uc010pzj.2	-	0	551	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R184C(1)|p.R184S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACAAGCCAAACGCACCAACAC	0.552													T	248458330	C	T	248458330	3	4	240	1	0	0	0	0	1	0	0	0	11019	536	19	1	414	1	OR2T12	1	248458330	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	44243567	248458330	792291	7	16710											
PTPN18	26469	broad.mit.edu	37	2	131128796	131128796	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:131128796G>A	uc002trc.3	+	11	1050	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	PTPN18_uc002trb.3_Missense_Mutation_p.A210T|PTPN18_uc002tre.3_5'Flank	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	317						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CTACGACGATGCCCTCTTCCT	0.622													A	131128796	G	A	131128796	3	1	240	1	0	0	0	0	1	0	0	0	12784	1319	46	3	995	3	PTPN18	2	131128796	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		131128796	112070577	8	16711											
LRP1B	53353	broad.mit.edu	37	2	141812781	141812781	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:141812781A>T	uc002tvj.1	-	9	2428	c.1456T>A	c.(1456-1458)Tgt>Agt	p.C486S	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	486					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G485fs*56(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)		ATGTGTGAACAGCCCCCTGGC	0.438										TSP Lung(27;0.18)			T	141812781	A	T	141812781	3	4	240	1	0	0	0	0	1	0	0	0	8955	188	7	5	12671	5	LRP1B	2	141812781	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08	10683985	141812781	101386592	9	16712											
TTN	7273	broad.mit.edu	37	2	179606204	179606204	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:179606204G>T	uc021vsy.1	-						TTN_uc021vsz.1_Missense_Mutation_p.T3748N|TTN_uc021vta.1_Missense_Mutation_p.T3681N|TTN_uc021vtb.1_Missense_Mutation_p.T3556N|TTN_uc002umz.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			TTCTGTTTCAGTGTCTTTGTG	0.428													T	179606204	G	T	179606204	3	4	240	1	0	0	0	0	1	0	0	0	16732	1029	36	5	93033	5	TTN	2	179606204	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	37793423	179606204	63593169	10	16713											
FN1	2335	broad.mit.edu	37	2	216232682	216232682	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:216232682C>G	uc002vfa.3	-	41	7188	c.6922G>C	c.(6922-6924)Gtt>Ctt	p.V2308L	FN1_uc002vfc.3_Missense_Mutation_p.V2071L|FN1_uc002vfe.3_Missense_Mutation_p.V2186L|FN1_uc002vff.3_Missense_Mutation_p.V2161L|FN1_uc002vfg.3_Missense_Mutation_p.V2127L|FN1_uc002vfh.3_Missense_Mutation_p.V2007L|FN1_uc002vfi.3_Missense_Mutation_p.V2277L|FN1_uc002vfj.3_Missense_Mutation_p.V2098L|FN1_uc002vfb.3_Missense_Mutation_p.V2096L|FN1_uc002vez.3_Missense_Mutation_p.V471L|FN1_uc010zjp.2_Missense_Mutation_p.V845L|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2217	Fibrin-binding 2.|Fibronectin type-I 12.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCTCCAACGGCATAATGG	0.438													G	216232682	C	G	216232682	3	3	240	1	0	0	0	0	1	0	0	0	5962	536	19	5	531	5	FN1	2	216232682	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	36626478	216232682	26966691	11	16714											
PAX3	5077	broad.mit.edu	37	2	223066852	223066852	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:223066852C>T	uc010fwo.3	-	7	1612	c.1231G>A	c.(1231-1233)Gcg>Acg	p.A411T	PAX3_uc002vmt.2_Missense_Mutation_p.A411T|PAX3_uc002vmy.2_Missense_Mutation_p.A410T|PAX3_uc002vmv.2_Missense_Mutation_p.A411T|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	411					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.Y410Y(2)|p.A411E(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)		GGGGAGAGCGCGTAATCAGTC	0.547			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						T	223066852	C	T	223066852	3	4	240	1	0	0	0	0	1	0	0	0	11480	768	27	1	326	1	PAX3	2	223066852	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	6834170	223066852	20132521	12	16715											
KLHL30	377007	broad.mit.edu	37	2	239049594	239049594	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:239049594G>A	uc002vxr.2	+	1	306	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	67	BTB.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGTGACTTCGCCGAGAGCTT	0.677													A	239049594	G	A	239049594	3	1	240	1	0	0	0	0	1	0	0	0	8384	1087	38	1	201	1	KLHL30	2	239049594	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	15982742	239049594	4149779	13	16716											
ANKRD28	23243	broad.mit.edu	37	3	15778600	15778600	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr3:15778600G>A	uc003caj.1	-	4	545	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ANKRD28_uc003cai.1_5'UTR|ANKRD28_uc011avz.1_5'UTR|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Silent_p.N164N|ANKRD28_uc003cam.2_Silent_p.N167N	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	134						nucleoplasm	protein binding	p.T133R(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GATCAGATACGTTTACATTAC	0.428													A	15778600	G	A	15778600	2	1	240	1	0	0	0	0	0	0	0	1	656	1136	40	1		1	ANKRD28	3	15778600	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		15778600	182243830	14	16717											
BCL6	604	broad.mit.edu	37	3	187443315	187443315	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr3:187443315C>T	uc003frp.3	-	7	2268	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.C548Y|BCL6_uc010hza.2_Missense_Mutation_p.C502Y|BCL6_uc003frq.2_Missense_Mutation_p.C604Y	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	604					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GCAGGTTTCGCATTTGTAGGG	0.612			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								T	187443315	C	T	187443315	3	4	240	1	0	0	0	0	1	0	0	0	1376	710	25	3	321	3	BCL6	3	187443315	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	171664715	187443315	10579115	15	16718											
TAPT1	202018	broad.mit.edu	37	4	16204132	16204132	+	Silent	SNP	A	A	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr4:16204132A>G	uc010ied.1	-	2	483	c.402T>C	c.(400-402)gtT>gtC	p.V134V	TAPT1_uc011bxe.1_Silent_p.V23V|TAPT1_uc003gow.4_Intron	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	Homo sapiens transmembrane anterior posterior transformation 1 (TAPT1), mRNA.	134						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GTGCCAGGAAAACTCTTAAAG	0.353													G	16204132	A	G	16204132	2	3	240	1	0	0	0	0	0	0	0	1	15551	1	1	4		4	TAPT1	4	16204132	Silent	SNP	A	TCGA-32-4719-01A-01D-1353-08		16204132	174950144	16	16719											
EGFLAM	133584	broad.mit.edu	37	5	38463973	38463974	+	Frame_Shift_Ins	INS	-	-	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr5:38463973_38463974insT	uc003jlc.2	+	22	3285_3286	c.2939_2940insT	c.(2938-2940)tatfs	p.Y980fs	EGFLAM_uc003jlb.2_Frame_Shift_Ins_p.Y972fs|EGFLAM_uc003jle.2_Frame_Shift_Ins_p.Y738fs|EGFLAM_uc003jlf.2_Frame_Shift_Ins_p.Y338fs|EGFLAM_uc003jlg.2_Frame_Shift_Ins_p.Y115fs|EGFLAM_uc003jlh.2_Frame_Shift_Ins_p.Y62fs	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	980	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AACAGGCAATATATGAGAGGGC	0.52													T	38463974	-	T	38463973	7	5	240	1	0	1	1	0	0	0	0	0	4966	449	16	0	3015	0	EGFLAM	5	38463973	Frame_Shift_Ins	INS	-	TCGA-32-4719-01A-01D-1353-08		38463973	142451287	17	16720											
BRD8	10902	broad.mit.edu	37	5	137476545	137476545	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr5:137476545C>T	uc003lcf.1	-	25	3519	c.3464G>A	c.(3463-3465)aGa>aAa	p.R1155K	NME5_uc003lce.3_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1155	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGAGAGATTTCTCTTCAGGCT	0.428													T	137476545	C	T	137476545	3	4	240	1	0	0	0	0	1	0	0	0	1506	913	32	3	251	3	BRD8	5	137476545	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	99012572	137476545	43438715	18	16721											
WDR46	9277	broad.mit.edu	37	6	33255194	33255194	+	Missense_Mutation	SNP	G	G	A	rs141256696	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr6:33255194G>A	uc003ods.3	-	7	1174	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	WDR46_uc011dra.2_Missense_Mutation_p.R219C|WDR46_uc010juo.1_Non-coding_Transcript|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank|PFDN6_uc021ywk.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA.	273										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCACAGCGGCGGATACAGTGG	0.572													A	33255194	G	A	33255194	3	1	240	1	0	0	0	0	1	0	0	0	17296	1116	39	2	1047	2	WDR46	6	33255194	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		33255194	137859873	19	16722											
MACC1	346389	broad.mit.edu	37	7	20199676	20199676	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:20199676A>G	uc003sus.4	-	4	617	c.308T>C	c.(307-309)tTc>tCc	p.F103S	MACC1_uc010kug.3_Missense_Mutation_p.F103S	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	103					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTCTCTACAGAAAAGAAAAGG	0.348													G	20199676	A	G	20199676	3	3	240	1	0	0	0	0	1	0	0	0	9143	246	9	4	2262	4	MACC1	7	20199676	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		20199676	138938987	20	16723											
ABCB5	340273	broad.mit.edu	37	7	20767947	20767947	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:20767947G>A	uc010kuh.3	+	22	2973	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_uc003suw.4_Silent_p.S467S|ABCB5_uc003sux.1_Silent_p.S90S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	467					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			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						GAAATACCTCGAAGAAAGCAC	0.353													A	20767947	G	A	20767947	2	1	240	1	0	0	0	0	0	0	0	1	44	1045	37	2		2	ABCB5	7	20767947	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	568271	20767947	138370716	21	16724											
OR6V1	346517	broad.mit.edu	37	7	142750291	142750291	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:142750291C>T	uc011ksv.2	+	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTTCTCAATCCCTTTATCCTT	0.507													T	142750291	C	T	142750291	3	4	240	1	0	0	0	0	1	0	0	0	11211	623	22	3	856	3	OR6V1	7	142750291	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	121982344	142750291	16388372	22	16725											
DOCK8	81704	broad.mit.edu	37	9	426982	426982	+	Splice_Site	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:426982G>T	uc003zgf.2	+	34	4450	c.4338_splice	c.e34+1	p.Q1446_splice	DOCK8_uc022bcu.1_Splice_Site_p.Q1378_splice|DOCK8_uc010mgv.3_Splice_Site_p.Q1346_splice|DOCK8_uc010mgu.3_Splice_Site_p.Q748_splice|DOCK8_uc003zgk.2_Splice_Site_p.Q904_splice	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1446	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CATTATCCAGGTGAGGAAAAC	0.383													T	426982	G	T	426982	5	4	240	1	0	0	0	0	0	0	1	0	4693	1275	44	5	4473	5	DOCK8	9	426982	Splice_Site	SNP	G	TCGA-32-4719-01A-01D-1353-08		426982	140786449	23	16726											
RGS3	5998	broad.mit.edu	37	9	116259676	116259677	+	Frame_Shift_Ins	INS	-	-	GCTGAGAG			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:116259676_116259677insGCTGAGAG	uc004bhq.3	+	9	1042_1043	c.833_834insGCTGAGAG	c.(832-834)ccgfs	p.P278fs	RGS3_uc004bhr.3_Frame_Shift_Ins_p.P166fs|RGS3_uc004bhs.3_Frame_Shift_Ins_p.P168fs	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	278					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CGACTGCGGCCGCTGAGAGGTA	0.619													GCTGAGAG	116259677	-	GCTGAGAG	116259676	7	5	240	1	0	1	1	0	0	0	0	0	13306	652	23	0	950	0	RGS3	9	116259676	Frame_Shift_Ins	INS	-	TCGA-32-4719-01A-01D-1353-08	115832694	116259676	24953755	24	16727											
VAV2	7410	broad.mit.edu	37	9	136656960	136656960	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:136656960C>T	uc004ces.3	-	12	1179	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	VAV2_uc004cer.3_Missense_Mutation_p.R373Q|VAV2_uc004cet.1_5'Flank	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	378					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTCCTTGTCCCGTTTAACTTC	0.488													T	136656960	C	T	136656960	3	4	240	1	0	0	0	0	1	0	0	0	17129	652	23	2	1575	2	VAV2	9	136656960	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	20397284	136656960	4556471	25	16728											
ARHGAP21	57584	broad.mit.edu	37	10	24873489	24873489	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:24873489A>C	uc001isb.2	-	25	6216	c.5729T>G	c.(5728-5730)cTt>cGt	p.L1910R	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1909					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TATGGAAAGAAGGGGCCTGTT	0.483													C	24873489	A	C	24873489	3	2	240	1	0	0	0	0	1	0	0	0	871	72	3	5	151	5	ARHGAP21	10	24873489	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		24873489	110661258	26	16729											
BTAF1	9044	broad.mit.edu	37	10	93786503	93786503	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:93786503G>A	uc001khr.3	+	35	5328	c.5230G>A	c.(5230-5232)Ggg>Agg	p.G1744R		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1744	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.G1744G(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCATCGCATTGGGCAGGTAAA	0.463													A	93786503	G	A	93786503	3	1	240	1	0	0	0	0	1	0	0	0	1536	1348	47	3	5372	3	BTAF1	10	93786503	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	68913014	93786503	41748244	27	16730											
KNDC1	85442	broad.mit.edu	37	10	135020727	135020727	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:135020727C>A	uc001llz.1	+	19	3667	c.3666C>A	c.(3664-3666)gaC>gaA	p.D1222E		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1222					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACACGCTGGACTTCAGCCCCC	0.687													A	135020727	C	A	135020727	3	1	240	1	0	0	0	0	1	0	0	0	8426	564	20	5	3744	5	KNDC1	10	135020727	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	41234224	135020727	514020	28	16731											
LRP4	4038	broad.mit.edu	37	11	46894746	46894746	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:46894746G>A	uc001ndn.4	-	29	4731	c.4488C>T	c.(4486-4488)atC>atT	p.I1496I	LOC100507401_uc001ndl.3_Non-coding_Transcript	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1496					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			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)		TTGCCCGTTCGATCTTGGCAA	0.552													A	46894746	G	A	46894746	2	1	240	1	0	0	0	0	0	0	0	1	8959	1048	37	2		2	LRP4	11	46894746	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		46894746	88111770	29	16732											
OR4A15	81328	broad.mit.edu	37	11	55135883	55135883	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:55135883C>T	uc010rif.2	+	0	524	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCTGTTGGCGGCCTGGATT	0.443													T	55135883	C	T	55135883	3	4	240	1	0	0	0	0	1	0	0	0	11040	768	27	1	526	1	OR4A15	11	55135883	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	8241137	55135883	79870633	30	16733											
TECTA	7007	broad.mit.edu	37	11	121000704	121000704	+	Missense_Mutation	SNP	C	C	T	rs139132568		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:121000704C>T	uc010rzo.2	+	8	2725	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	909	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTATCGAAGCCGCTCCAGGTG	0.562													T	121000704	C	T	121000704	3	4	240	1	0	0	0	0	1	0	0	0	15744	652	23	2	2759	2	TECTA	11	121000704	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	65864821	121000704	14005812	31	16734											
PIK3C2G	5288	broad.mit.edu	37	12	18699324	18699324	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:18699324G>A	uc001rdt.3	+	24	3541	c.3425G>A	c.(3424-3426)cGt>cAt	p.R1142H	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1183H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R961H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1142	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AATAATCTTCGTCCACAAGAC	0.408													A	18699324	G	A	18699324	3	1	240	1	0	0	0	0	1	0	0	0	11911	1145	40	1	3519	1	PIK3C2G	12	18699324	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		18699324	115152571	32	16735											
KRT79	338785	broad.mit.edu	37	12	53218087	53218087	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:53218087G>T	uc001sbb.3	-	4	948	c.915C>A	c.(913-915)aaC>aaA	p.N305K	KRT79_uc001sba.3_Missense_Mutation_p.N76K	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	305	Linker 12.|Rod.					keratin filament	structural molecule activity	p.N305K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTGCGGTTGTTGTCCATGG	0.597													T	53218087	G	T	53218087	3	4	240	1	0	0	0	0	1	0	0	0	8492	1368	48	5	712	5	KRT79	12	53218087	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	34518763	53218087	80633808	33	16736											
SLC16A7	9194	broad.mit.edu	37	12	60169207	60169207	+	Silent	SNP	T	T	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:60169207T>G	uc001sqs.3	+	4	1430	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	SLC16A7_uc001sqt.3_Silent_p.L377L|SLC16A7_uc001squ.3_Silent_p.L377L|SLC16A7_uc009zqi.3_Silent_p.L278L|SLC16A7_uc010ssi.2_Silent_p.L278L	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	377						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	CCGTCGGACTTGTCACAATTG	0.438													G	60169207	T	G	60169207	2	3	240	1	0	0	0	0	0	0	0	1	14413	1799	63	5		5	SLC16A7	12	60169207	Silent	SNP	T	TCGA-32-4719-01A-01D-1353-08	6951120	60169207	73682688	34	16737											
KCTD10	83892	broad.mit.edu	37	12	109889455	109889455	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:109889455C>T	uc001toj.1	-	6	2627	c.914G>A	c.(913-915)cGc>cAc	p.R305H	KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Missense_Mutation_p.R270H|KCTD10_uc001toi.1_Missense_Mutation_p.R296H|KCTD10_uc001tok.1_Missense_Mutation_p.R115H	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	296					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CCTCCGCACGCGCTCGATCCG	0.716													T	109889455	C	T	109889455	3	4	240	1	0	0	0	0	1	0	0	0	8097	768	27	1	58	1	KCTD10	12	109889455	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	49720248	109889455	23962440	35	16738											
OR4K5	79317	broad.mit.edu	37	14	20389343	20389343	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr14:20389343A>T	uc010tkw.2	+	0	578	c.578A>T	c.(577-579)tAc>tTc	p.Y193F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CTGGACTCTTACATCATTGAA	0.393													T	20389343	A	T	20389343	3	4	240	1	0	0	0	0	1	0	0	0	11073	391	14	5	580	5	OR4K5	14	20389343	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		20389343	86960197	36	16739											
GABRB3	2562	broad.mit.edu	37	15	26825472	26825472	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr15:26825472C>T	uc001zbb.3	-	6	947	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	GABRB3_uc021sgg.1_Missense_Mutation_p.A155T|GABRB3_uc021sgh.1_Missense_Mutation_p.A141T|GABRB3_uc001zaz.3_Missense_Mutation_p.A226T|GABRB3_uc001zba.3_Missense_Mutation_p.A226T	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	226					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.T282N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCACCTGTGGCGAAGACAACA	0.572													T	26825472	C	T	26825472	3	4	240	1	0	0	0	0	1	0	0	0	6168	768	27	1	761	1	GABRB3	15	26825472	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		26825472	75705920	37	16740											
GOLGA6C	653641	broad.mit.edu	37	15	75557692	75557692	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr15:75557692G>A	uc002azs.2	+	8	727	c.686G>A	c.(685-687)cGg>cAg	p.R229Q	DQ588973_uc002azt.2_5'Flank	NM_001164404	NP_001157876	A6NDK9	GOG6C_HUMAN	Homo sapiens golgin A6 family, member C (GOLGA6C), mRNA.	229										ovary(1)	1						CAGCTAGAGCGGGACGAATAT	0.547													A	75557692	G	A	75557692	3	1	240	1	0	0	0	0	1	0	0	0	6559	1116	39	2	720	2	GOLGA6C	15	75557692	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	48732220	75557692	26973700	38	16741											
HAGH	3029	broad.mit.edu	37	16	1867224	1867224	+	Missense_Mutation	SNP	G	G	A	rs150713216		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:1867224G>A	uc002cna.3	-	5	997	c.590C>T	c.(589-591)gCg>gTg	p.A197V	HAGH_uc002cmz.3_Missense_Mutation_p.A149V|HAGH_uc010uvp.2_Missense_Mutation_p.R161W	NM_005326	NP_001035517	Q16775	GLO2_HUMAN	Homo sapiens hydroxyacylglutathione hydrolase (HAGH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	197					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CATCTCATCCGCAGTCCCTTC	0.637													A	1867224	G	A	1867224	3	1	240	1	0	0	0	0	1	0	0	0	6945	1087	38	1	352	1	HAGH	16	1867224	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		1867224	88487529	39	16742											
PDILT	204474	broad.mit.edu	37	16	20376785	20376785	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:20376785G>A	uc002dhc.1	-	8	1417	c.1194C>T	c.(1192-1194)aaC>aaT	p.N398N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	398	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGACGACTACGTTGAAGTTCT	0.448													A	20376785	G	A	20376785	2	1	240	1	0	0	0	0	0	0	0	1	11674	1136	40	1		1	PDILT	16	20376785	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	18509561	20376785	69977968	40	16743											
IL17C	27189	broad.mit.edu	37	16	88705562	88705562	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:88705562G>A	uc002fla.3	+	1	229	c.180G>A	c.(178-180)caG>caA	p.Q60Q		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	60					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGTGGGGGCAGGCTTTGCCTG	0.697													A	88705562	G	A	88705562	2	1	240	1	0	0	0	0	0	0	0	1	7636	991	35	3		3	IL17C	16	88705562	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	68328777	88705562	1649191	41	16744											
RAPGEFL1	51195	broad.mit.edu	37	17	38340589	38340589	+	Silent	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:38340589C>T	uc010cwu.1	+	2	595	c.105C>T	c.(103-105)ggC>ggT	p.G35G		NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	241	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGGGGGCCGGCCACATCATCA	0.587													T	38340589	C	T	38340589	2	4	240	1	0	0	0	0	0	0	0	1	13049	726	26	3		3	RAPGEFL1	17	38340589	Silent	SNP	C	TCGA-32-4719-01A-01D-1353-08		38340589	42854621	42	16745											
DHX40	79665	broad.mit.edu	37	17	57665340	57665340	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:57665340C>T	uc002ixn.2	+	11	1655	c.1508C>T	c.(1507-1509)gCt>gTt	p.A503V	DHX40_uc010woe.2_Missense_Mutation_p.A426V|DHX40_uc010wof.2_Missense_Mutation_p.A18V	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	503							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATAAAAGCTGCTTCCCTGGAT	0.398													T	57665340	C	T	57665340	3	4	240	1	0	0	0	0	1	0	0	0	4512	797	28	3	1554	3	DHX40	17	57665340	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	19324751	57665340	23529870	43	16746											
SCN4A	6329	broad.mit.edu	37	17	62019282	62019282	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:62019282G>A	uc002jds.1	-	23	4437	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1454					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	CGCCCAATCCGCGCCAGGCGG	0.642													A	62019282	G	A	62019282	3	1	240	1	0	0	0	0	1	0	0	0	13920	1086	38	1	1154	1	SCN4A	17	62019282	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	4353942	62019282	19175928	44	16747											
LAMA1	284217	broad.mit.edu	37	18	6982557	6982557	+	Silent	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr18:6982557C>T	uc002knm.3	-	40	5923	c.5829G>A	c.(5827-5829)gcG>gcA	p.A1943A	LAMA1_uc010wzj.2_Silent_p.A1419A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1943	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCACGGCCGCTTTCCCGT	0.547													T	6982557	C	T	6982557	2	4	240	1	0	0	0	0	0	0	0	1	8605	639	23	2		2	LAMA1	18	6982557	Silent	SNP	C	TCGA-32-4719-01A-01D-1353-08		6982557	71094691	45	16748											
ATP8B3	148229	broad.mit.edu	37	19	1805392	1805392	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:1805392C>A	uc002ltw.3	-	9	1119	c.885G>T	c.(883-885)aaG>aaT	p.K295N	ATP8B3_uc002ltv.3_Missense_Mutation_p.K242N|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002lty.1_Missense_Mutation_p.K43N|ATP8B3_uc002ltz.1_Missense_Mutation_p.K242N	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	295					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		ACGCCATCTTCTTTATAGTGG	0.478													A	1805392	C	A	1805392	3	1	240	1	0	0	0	0	1	0	0	0	1196	912	32	5	3145	5	ATP8B3	19	1805392	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		1805392	57323591	46	16749											
DOT1L	84444	broad.mit.edu	37	19	2227030	2227030	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:2227030G>A	uc002lvc.1	+	12	3159	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	DOT1L_uc002lvb.4_Missense_Mutation_p.A1504T	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1504						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TGTGCCGGCCGCCGCAGGCCT	0.697													A	2227030	G	A	2227030	3	1	240	1	0	0	0	0	1	0	0	0	4709	1087	38	1	4616	1	DOT1L	19	2227030	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	421638	2227030	56901953	47	16750											
OR7G3	390883	broad.mit.edu	37	19	9237058	9237058	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:9237058G>A	uc010xkl.2	-	0	569	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGGACATCAGAACAGGCGAG	0.463													A	9237058	G	A	9237058	3	1	240	1	0	0	0	0	1	0	0	0	11224	942	33	3	372	3	OR7G3	19	9237058	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	7010028	9237058	49891925	48	16751											
GPR77	27202	broad.mit.edu	37	19	47844107	47844107	+	Silent	SNP	G	G	A	rs115216760	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:47844107G>A	uc002pgk.1	+	1	122	c.51G>A	c.(49-51)tcG>tcA	p.S17S	GPR77_uc010ela.1_Silent_p.S17S|GPR77_uc021uwn.1_Silent_p.S17S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	17					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GCGACCTCTCGGACCGCCCTG	0.627													A	47844107	G	A	47844107	2	1	240	1	0	0	0	0	0	0	0	1	6709	1103	39	2		2	GPR77	19	47844107	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	38607049	47844107	11284876	49	16752											
GFRA4	64096	broad.mit.edu	37	20	3640880	3640880	+	Silent	SNP	G	G	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr20:3640880G>T	uc002wio.3	-	3	744	c.744C>A	c.(742-744)gcC>gcA	p.A248A	GFRA4_uc002win.3_Silent_p.A218A	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	248						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CGCTGGCAAAGGCCTGAATGG	0.647													T	3640880	G	T	3640880	2	4	240	1	0	0	0	0	0	0	0	1	6350	987	35	5		5	GFRA4	20	3640880	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		3640880	59384640	50	16753											
ERG	2078	broad.mit.edu	37	21	39755623	39755623	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr21:39755623A>G	uc010gnw.3	-	11	1458	c.1163T>C	c.(1162-1164)gTc>gCc	p.V388A	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.V381A|ERG_uc011aek.2_Missense_Mutation_p.V289A|ERG_uc010gnv.3_Missense_Mutation_p.V265A|ERG_uc010gnx.3_Missense_Mutation_p.V364A|ERG_uc011ael.2_Missense_Mutation_p.V388A|ERG_uc002yxb.3_Missense_Mutation_p.V364A	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	388					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTTCCCATGGACCTTGGTCAT	0.592			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								G	39755623	A	G	39755623	3	3	240	1	0	0	0	0	1	0	0	0	5222	275	10	4	301	4	ERG	21	39755623	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		39755623	8374272	51	16754											
PRDM15	63977	broad.mit.edu	37	21	43230571	43230571	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr21:43230571C>T	uc002yzq.1	-	27	3800	c.3689G>A	c.(3688-3690)tGc>tAc	p.C1230Y	PRDM15_uc002yzo.3_Missense_Mutation_p.C901Y|PRDM15_uc002yzp.3_Missense_Mutation_p.C921Y|PRDM15_uc002yzr.1_Missense_Mutation_p.C921Y	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTGGTCCCGCACAGCTGGCA	0.652													T	43230571	C	T	43230571	3	4	240	1	0	0	0	0	1	0	0	0	12456	710	25	3	850	3	PRDM15	21	43230571	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	3474948	43230571	4899324	52	16755											
CELSR1	9620	broad.mit.edu	37	22	46931595	46931595	+	Silent	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr22:46931595G>A	uc003bhw.1	-	0	1473	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	491	Cadherin 3.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAATGGCCGCGTTCTGGCCCT	0.632													A	46931595	G	A	46931595	2	1	240	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46931595	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		46931595	4372971	53	16756											
FAM47C	442444	broad.mit.edu	37	X	37028050	37028050	+	Missense_Mutation	SNP	C	C	T	rs145081405		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:37028050C>T	uc004ddl.2	+	0	1619	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	523								p.R523H(1)		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						GTCCCATCTCCGCCCAGAGCC	0.612													T	37028050	C	T	37028050	3	4	240	1	0	0	0	0	1	0	0	0	5571	652	23	2	1569	2	FAM47C	23	37028050	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		37028050	118242510	54	16757											
PCDH11X	27328	broad.mit.edu	37	X	91090711	91090711	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:91090711G>A	uc004efk.2	+	0	1053	c.208G>A	c.(208-210)Gga>Aga	p.G70R	PCDH11X_uc004efl.2_Missense_Mutation_p.G70R|PCDH11X_uc010nmv.2_Missense_Mutation_p.G70R|PCDH11X_uc004efm.2_Missense_Mutation_p.G70R|PCDH11X_uc004efn.2_Missense_Mutation_p.G70R|PCDH11X_uc004efo.2_Missense_Mutation_p.G70R|PCDH11X_uc004efh.2_Missense_Mutation_p.G70R|PCDH11X_uc004efj.1_Missense_Mutation_p.G70R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	70	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						GTACAAGACCGGAGATGTGCC	0.458													A	91090711	G	A	91090711	3	1	240	1	0	0	0	0	1	0	0	0	11508	1117	39	2	210	2	PCDH11X	23	91090711	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	54062661	91090711	64179849	55	16758											
VSIG1	340547	broad.mit.edu	37	X	107301373	107301373	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:107301373G>A	uc011msk.2	+	1	316	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	VSIG1_uc004eno.3_Missense_Mutation_p.R52Q	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	52	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTGGCCTCCCGAGAACAGCTT	0.468													A	107301373	G	A	107301373	3	1	240	1	0	0	0	0	1	0	0	0	17219	1058	37	2	161	2	VSIG1	23	107301373	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	16210662	107301373	47969187	56	16759											
MIB2	142678	broad.mit.edu	37	1	1563429	1563429	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:1563429G>A	uc001agg.3	+	13	2101	c.2056G>A	c.(2056-2058)Gcc>Acc	p.A686T	MIB2_uc001agh.3_Missense_Mutation_p.A672T|MIB2_uc001agi.3_Missense_Mutation_p.A682T|MIB2_uc001agj.3_Missense_Mutation_p.A470T|MIB2_uc001agk.3_Missense_Mutation_p.A621T|MIB2_uc001agl.2_Missense_Mutation_p.A585T|MIB2_uc001agm.3_Missense_Mutation_p.A506T|MIB2_uc010nyq.2_Missense_Mutation_p.A585T|MIB2_uc009vkh.3_Missense_Mutation_p.A435T|MIB2_uc001agn.3_Missense_Mutation_p.A261T|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	629					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGCACTCCGCCATCTCGGC	0.652													A	1563429	G	A	1563429	3	1	241	1	0	0	0	0	1	0	0	0	9567	1087	38	1	2110	1	MIB2	1	1563429	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		1563429	247687192	1	16760											
RCC1	1104	broad.mit.edu	37	1	28858379	28858379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:28858379delC	uc001bqb.2	+	5	537	c.138delC	c.(136-138)ggcfs	p.G46fs	RCC1_uc001bqa.2_Frame_Shift_Del_p.G46fs|RCC1_uc001bqc.2_Frame_Shift_Del_p.G46fs|RCC1_uc001bqe.2_Frame_Shift_Del_p.G63fs|RCC1_uc001bqf.2_Frame_Shift_Del_p.G77fs|RCC1_uc001bqg.2_Frame_Shift_Del_p.G46fs	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	46					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACGTGGGCCAGCTGGGGC	0.607													-	28858379	C	-	28858379	7	5	241	1	0	1	0	1	0	0	0	0	13173	726	26	0	241	0	RCC1	1	28858379	Frame_Shift_Del	DEL	C	TCGA-32-5222-01A-01D-1486-08	27294950	28858379	220392242	2	16761											
BARHL2	343472	broad.mit.edu	37	1	91182732	91182732	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:91182732G>A	uc001dns.3	-	0	63	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	7						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AACTCGACCCGCTGGCCCCTT	0.562													A	91182732	G	A	91182732	2	1	241	1	0	0	0	0	0	0	0	1	1314	1078	38	1		1	BARHL2	1	91182732	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	62324353	91182732	158067889	3	16762											
FLG2	388698	broad.mit.edu	37	1	152325929	152325929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:152325929G>A	uc001ezw.4	-	2	4406	c.4333C>T	c.(4333-4335)Caa>Taa	p.Q1445*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1445							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGAGTTTGTTCTTGTGAT	0.522													A	152325929	G	A	152325929	4	1	241	1	0	0	0	0	0	1	0	0	5923	1386	48	3	2846	3	FLG2	1	152325929	Nonsense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	61143197	152325929	96924692	4	16763											
SPTA1	6708	broad.mit.edu	37	1	158632643	158632643	+	Missense_Mutation	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:158632643C>G	uc001fst.1	-	16	2512	c.2313G>C	c.(2311-2313)ttG>ttC	p.L771F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	771					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCGGCATACCAAGGACTCTT	0.468													G	158632643	C	G	158632643	3	3	241	1	0	0	0	0	1	0	0	0	15115	593	21	5	5090	5	SPTA1	1	158632643	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	6306714	158632643	90617978	5	16764											
ABL2	27	broad.mit.edu	37	1	179084044	179084044	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:179084044G>A	uc001gmj.4	-	8	1817	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	ABL2_uc010pnf.2_Silent_p.C510C|ABL2_uc010png.2_Silent_p.C489C|ABL2_uc010pnh.2_Silent_p.C489C|ABL2_uc009wxe.3_Silent_p.C489C|ABL2_uc001gmg.4_Silent_p.C495C|ABL2_uc001gmi.4_Silent_p.C495C|ABL2_uc010pne.2_Silent_p.C474C	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	510	Protein kinase.				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.P476fs*7(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)	CCTTAGGGGGGCATCCCTCAG	0.383			T	ETV6	AML								A	179084044	G	A	179084044	2	1	241	1	0	0	0	0	0	0	0	1	93	1195	42	3		3	ABL2	1	179084044	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	20451401	179084044	70166577	6	16765											
USH2A	7399	broad.mit.edu	37	1	216256823	216256823	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:216256823T>C	uc001hku.1	-	25	5660	c.5273A>G	c.(5272-5274)aAc>aGc	p.N1758S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1758	Laminin G-like 2.				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.N1758T(2)|p.N1758N(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)		TCCATCTTTGTTATAAACGAA	0.303										HNSCC(13;0.011)			C	216256823	T	C	216256823	3	2	241	1	0	0	0	0	1	0	0	0	17033	1725	60	4	10523	4	USH2A	1	216256823	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	37172779	216256823	32993798	7	16766											
CEP68	23177	broad.mit.edu	37	2	65296813	65296813	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:65296813C>T	uc002sdl.4	+	1	449	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	CEP68_uc002sdj.2_Missense_Mutation_p.H79Y|CEP68_uc010yqb.1_Missense_Mutation_p.H79Y|CEP68_uc002sdk.4_Missense_Mutation_p.H79Y|CEP68_uc010yqc.2_Missense_Mutation_p.H79Y|CEP68_uc010yqd.1_Missense_Mutation_p.H79Y	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	79					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCTAGAGCCCACCAGCCACA	0.637													T	65296813	C	T	65296813	3	4	241	1	0	0	0	0	1	0	0	0	3258	594	21	3	237	3	CEP68	2	65296813	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		65296813	177902560	8	16767											
SUCLG1	8802	broad.mit.edu	37	2	84652596	84652596	+	Missense_Mutation	SNP	C	C	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:84652596C>A	uc002son.3	-	7	1150	c.957G>T	c.(955-957)caG>caT	p.Q319H		NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	319					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTCCTGCACTCTGAAGGGCAG	0.532													A	84652596	C	A	84652596	3	1	241	1	0	0	0	0	1	0	0	0	15363	912	32	5	91	5	SUCLG1	2	84652596	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	19355783	84652596	158546777	9	16768											
CD8B	926	broad.mit.edu	37	2	87073862	87073862	+	Silent	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:87073862C>G	uc002srw.3	-	3	587	c.528G>C	c.(526-528)ctG>ctC	p.L176L	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Silent_p.L176L|CD8B_uc002sry.3_Intron|CD8B_uc010fgt.3_Intron|CD8B_uc002srz.3_Silent_p.L176L|CD8B_uc010yto.2_Silent_p.L176L	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	176					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CGCCAGCCACCAGCAGGCCAA	0.532													G	87073862	C	G	87073862	2	3	241	1	0	0	0	0	0	0	0	1	3045	581	21	5		5	CD8B	2	87073862	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	2421266	87073862	156125511	10	16769											
TBC1D8	11138	broad.mit.edu	37	2	101670635	101670635	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:101670635C>T	uc010fiv.3	-	3	652	c.521G>A	c.(520-522)cGc>cAc	p.R174H	TBC1D8_uc010yvw.2_Missense_Mutation_p.R189H|TBC1D8_uc002tau.4_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	174	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCAGCCCTGGCGGGGCACCCT	0.587													T	101670635	C	T	101670635	3	4	241	1	0	0	0	0	1	0	0	0	15622	768	27	1	2969	1	TBC1D8	2	101670635	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	14596773	101670635	141528738	11	16770											
IL1R2	7850	broad.mit.edu	37	2	102644815	102644815	+	Silent	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:102644815A>G	uc002tbm.3	+	8	1387	c.1158A>G	c.(1156-1158)ctA>ctG	p.L386L	IL1R2_uc002tbn.3_Silent_p.L386L	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	386					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGACTGTGCTATGGCCTCATC	0.448													G	102644815	A	G	102644815	2	3	241	1	0	0	0	0	0	0	0	1	7659	436	16	4		4	IL1R2	2	102644815	Silent	SNP	A	TCGA-32-5222-01A-01D-1486-08	974180	102644815	140554558	12	16771											
IL18RAP	8807	broad.mit.edu	37	2	103040874	103040874	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:103040874G>A	uc002tbx.3	+	5	1063	c.579_splice	c.e5+1	p.K193_splice	IL18RAP_uc010fiz.3_Splice_Site_p.K51_splice	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	193	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCTGGTACAAGGTAAGAGTGA	0.413													A	103040874	G	A	103040874	2	1	241	1	0	0	0	0	0	0	0	1	7648	1014	35	3		3	IL18RAP	2	103040874	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	396059	103040874	140158499	13	16772											
IRS1	3667	broad.mit.edu	37	2	227660008	227660008	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:227660008C>T	uc021vxn.1	-	0	3447	c.3447G>A	c.(3445-3447)gtG>gtA	p.V1149V	IRS1_uc002voh.4_Silent_p.V1149V	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1149					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			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)		GCCTCAGCCACACATTCTCAA	0.617													T	227660008	C	T	227660008	2	4	241	1	0	0	0	0	0	0	0	1	7840	465	17	3		3	IRS1	2	227660008	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	124619134	227660008	15539365	14	16773											
CAMK1	8536	broad.mit.edu	37	3	9802446	9802446	+	Silent	SNP	G	G	A	rs138951531		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:9802446G>A	uc003bst.3	-	7	824	c.639C>T	c.(637-639)tgC>tgT	p.C213C	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	213	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GAGGGTAACCGCAGAGCCTGG	0.557													A	9802446	G	A	9802446	2	1	241	1	0	0	0	0	0	0	0	1	2596	1079	38	1		1	CAMK1	3	9802446	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08		9802446	188219984	15	16774											
ENTPD3	956	broad.mit.edu	37	3	40457378	40457378	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:40457378G>A	uc003ckd.4	+	6	737	c.645G>A	c.(643-645)acG>acA	p.T215T	ENTPD3_uc010hhy.3_Silent_p.T215T|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	215						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGGAAACCACGGGTGCCCTGG	0.537													A	40457378	G	A	40457378	2	1	241	1	0	0	0	0	0	0	0	1	5140	1103	39	2		2	ENTPD3	3	40457378	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	30654932	40457378	157565052	16	16775											
TRAK1	22906	broad.mit.edu	37	3	42261046	42261046	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:42261046G>A	uc003cky.3	+	14	2240	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	TRAK1_uc011azi.2_Missense_Mutation_p.R654H|U4_uc021wwj.1_5'Flank	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	675					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ACCACCTGTCGCATCCTGCAT	0.552													A	42261046	G	A	42261046	3	1	241	1	0	0	0	0	1	0	0	0	16446	1087	38	1	2470	1	TRAK1	3	42261046	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	1803668	42261046	155761384	17	16776											
DOCK3	1795	broad.mit.edu	37	3	51418534	51418534	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:51418534C>T	uc011bds.2	+	52	5660	c.5637C>T	c.(5635-5637)gaC>gaT	p.D1879D		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1879						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGTCTGGACGGCAGCAACT	0.617													T	51418534	C	T	51418534	2	4	241	1	0	0	0	0	0	0	0	1	4688	535	19	1		1	DOCK3	3	51418534	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	9157488	51418534	146603896	18	16777											
POLQ	10721	broad.mit.edu	37	3	121208947	121208947	+	Missense_Mutation	SNP	A	A	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:121208947A>C	uc003eee.4	-	15	2960	c.2831T>G	c.(2830-2832)tTt>tGt	p.F944C	POLQ_uc003eed.3_Missense_Mutation_p.F116C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	944					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAATCACTAAATATTGTGTT	0.289								DNA polymerases (catalytic subunits)					C	121208947	A	C	121208947	3	2	241	1	0	0	0	0	1	0	0	0	12208	14	1	5	5001	5	POLQ	3	121208947	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08	69790413	121208947	76813483	19	16778											
COL6A5	256076	broad.mit.edu	37	3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:130174391C>T	uc010htj.1	+	36	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.T263M|COL6A5_uc010htk.1_Missense_Mutation_p.T263M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2224	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353													T	130174391	C	T	130174391	3	4	241	1	0	0	0	0	1	0	0	0	3702	536	19	1	6813	1	COL6A5	3	130174391	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	8965444	130174391	67848039	20	16779											
ARMC8	25852	broad.mit.edu	37	3	137964018	137964018	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:137964018G>A	uc003esa.1	+	12	1452	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	ARMC8_uc003erw.3_Missense_Mutation_p.R362Q|ARMC8_uc003erx.3_Missense_Mutation_p.R362Q|ARMC8_uc003ery.3_Missense_Mutation_p.R334Q|ARMC8_uc011bmf.1_Missense_Mutation_p.R345Q|ARMC8_uc011bmg.1_Missense_Mutation_p.R309Q|ARMC8_uc011bmh.1_Missense_Mutation_p.R303Q|ARMC8_uc003esb.1_Missense_Mutation_p.R334Q|ARMC8_uc003esc.1_Missense_Mutation_p.R134Q	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	376							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GAAGACATCCGGAAGAAGGTG	0.522													A	137964018	G	A	137964018	3	1	241	1	0	0	0	0	1	0	0	0	957	1116	39	2	1131	2	ARMC8	3	137964018	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	7789627	137964018	60058412	21	16780											
SERPINI1	5274	broad.mit.edu	37	3	167508226	167508226	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:167508226T>C	uc003ffa.4	+	2	515	c.317T>C	c.(316-318)aTg>aCg	p.M106T	SERPINI1_uc003ffb.4_Missense_Mutation_p.M106T	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	106					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.V105V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAATATGTGATGAAAATTGCC	0.318													C	167508226	T	C	167508226	3	2	241	1	0	0	0	0	1	0	0	0	14118	1464	51	4	323	4	SERPINI1	3	167508226	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	29544208	167508226	30514204	22	16781											
ZNF330	27309	broad.mit.edu	37	4	142155058	142155058	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr4:142155058C>T	uc003iiq.4	+	9	1098	c.878C>T	c.(877-879)aCt>aTt	p.T293I	ZNF330_uc011chl.2_Missense_Mutation_p.T233I	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	Homo sapiens zinc finger protein 330 (ZNF330), mRNA.	293						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GATTCAGATACTGAGTCATCA	0.433													T	142155058	C	T	142155058	3	4	241	1	0	0	0	0	1	0	0	0	17845	565	20	3	912	3	ZNF330	4	142155058	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		142155058	48999218	23	16782											
SPOCK3	50859	broad.mit.edu	37	4	167656162	167656162	+	Silent	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr4:167656162A>G	uc011cjq.1	-	9	1305	c.1248T>C	c.(1246-1248)gaT>gaC	p.D416D	SPOCK3_uc021xuf.1_Silent_p.D407D|SPOCK3_uc011cjr.1_Silent_p.D287D|SPOCK3_uc003iri.1_Silent_p.D407D|SPOCK3_uc011cjs.1_Silent_p.D356D|SPOCK3_uc003irj.1_Silent_p.D404D|SPOCK3_uc011cjt.1_Silent_p.D315D|SPOCK3_uc011cjp.2_Silent_p.D364D|SPOCK3_uc011cju.1_Silent_p.D311D|SPOCK3_uc011cjv.1_Silent_p.D309D	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	407	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.D415V(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)		cattcataatatcgtcttcat	0.358													G	167656162	A	G	167656162	2	3	241	1	0	0	0	0	0	0	0	1	15080	446	16	4		4	SPOCK3	4	167656162	Silent	SNP	A	TCGA-32-5222-01A-01D-1486-08	25501104	167656162	23498114	24	16783											
DNAH5	1767	broad.mit.edu	37	5	13766102	13766102	+	Missense_Mutation	SNP	A	A	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:13766102A>T	uc003jfd.2	-	58	10126	c.10084T>A	c.(10084-10086)Ttt>Att	p.F3362I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3362	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					TTCTGTAAAAAGTTCCCTGCA	0.418									Kartagener syndrome				T	13766102	A	T	13766102	3	4	241	1	0	0	0	0	1	0	0	0	4604	72	3	5	3874	5	DNAH5	5	13766102	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08		13766102	167149158	25	16784											
PCDHAC2	56136	broad.mit.edu	37	5	140263516	140263516	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:140263516G>A	uc003lif.2	+	0	1663	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.V555M|PCDHAC2_uc003lid.3_Missense_Mutation_p.V555M	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	569	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.697													A	140263516	G	A	140263516	3	1	241	1	0	0	0	0	1	0	0	0	11533	1145	40	1		1	PCDHAC2	5	140263516	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	126497414	140263516	40651744	26	16785											
PCDHGC5	9708	broad.mit.edu	37	5	140774370	140774370	+	Missense_Mutation	SNP	G	G	A	rs143444747	by1000genomes	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:140774370G>A	uc003lkd.2	+	0	2888	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.V664M|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	666	Cadherin 6.				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)			CACCGTAGCCGTGGCTGACAG	0.627													A	140774370	G	A	140774370	3	1	241	1	0	0	0	0	1	0	0	0	11571	1145	40	1		1	PCDHGC5	5	140774370	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	510854	140774370	40140890	27	16786											
OR10C1	442194	broad.mit.edu	37	6	29408448	29408448	+	Missense_Mutation	SNP	G	G	T	rs74711365		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:29408448G>T	uc011dlp.2	+	0	733	c.656G>T	c.(655-657)cGt>cTt	p.R219L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R219C(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTACGGGCGTATCCTCGTT	0.582													T	29408448	G	T	29408448	3	4	241	1	0	0	0	0	1	0	0	0	10898	1145	40	5	658	5	OR10C1	6	29408448	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		29408448	141706619	28	16787											
KIF6	221458	broad.mit.edu	37	6	39513399	39513399	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:39513399G>A	uc003oot.2	-	10	1342	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	KIF6_uc010jxa.1_Missense_Mutation_p.A207V|KIF6_uc011dua.1_Missense_Mutation_p.A416V|KIF6_uc010jxb.1_Missense_Mutation_p.A416V	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	416					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.G415G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACGCATATCCGCGCCAACCTC	0.363													A	39513399	G	A	39513399	3	1	241	1	0	0	0	0	1	0	0	0	8308	1087	38	1	1249	1	KIF6	6	39513399	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	10104951	39513399	131601668	29	16788											
TMEM63B	55362	broad.mit.edu	37	6	44122464	44122464	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:44122464G>A	uc003owr.3	+	23	2407	c.2343G>A	c.(2341-2343)gtG>gtA	p.V781V	TMEM63B_uc003ows.3_Silent_p.V684V|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	781						integral to membrane	nucleotide binding|protein binding	p.E780fs*28(1)|p.V781fs*27(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ACTCAGAGGTGGACGGGGATG	0.607													A	44122464	G	A	44122464	2	1	241	1	0	0	0	0	0	0	0	1	16188	1335	47	3		3	TMEM63B	6	44122464	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	4609065	44122464	126992603	30	16789											
TDRD6	221400	broad.mit.edu	37	6	46656737	46656737	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:46656737C>T	uc003oyj.3	+	0	1126	c.872C>T	c.(871-873)aCg>aTg	p.T291M	TDRD6_uc010jze.3_Missense_Mutation_p.T291M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	291					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGGGTTCCACGGGGACAGGG	0.637													T	46656737	C	T	46656737	3	4	241	1	0	0	0	0	1	0	0	0	15731	536	19	1	874	1	TDRD6	6	46656737	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	2534273	46656737	124458330	31	16790											
GSTA1	2938	broad.mit.edu	37	6	52659006	52659006	+	Missense_Mutation	SNP	C	C	T	rs1051733		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:52659006C>T	uc003paz.3	-	4	443	c.331G>A	c.(331-333)Gta>Ata	p.V111I	GSTA1_uc021zan.1_Missense_Mutation_p.V111I	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	111	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.P110P(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGTGGACATACGGGCAGAAGG	0.393													T	52659006	C	T	52659006	3	4	241	1	0	0	0	0	1	0	0	0	6830	536	19	1	349	1	GSTA1	6	52659006	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	6002269	52659006	118456061	32	16791											
DPPA5	340168	broad.mit.edu	37	6	74063914	74063914	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:74063914G>A	uc003pgs.2	-	0	86	c.35C>T	c.(34-36)cCg>cTg	p.P12L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	12					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						TTTCACCCACGGCGGGATATG	0.582													A	74063914	G	A	74063914	3	1	241	1	0	0	0	0	1	0	0	0	4737	1116	39	2	327	2	DPPA5	6	74063914	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	21404908	74063914	97051153	33	16792											
KIAA1009	22832	broad.mit.edu	37	6	84911454	84911454	+	Splice_Site	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:84911454C>G	uc010kbp.3	-	8	815	c.718_splice	c.e8+1	p.V240_splice	KIAA1009_uc003pkj.4_Splice_Site_p.V164_splice|KIAA1009_uc003pkk.2_Splice_Site_p.V240_splice	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	240					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATAATATTTACCATTAGCAAG	0.264													G	84911454	C	G	84911454	5	3	241	1	0	0	0	0	0	0	1	0	8203	521	18	5	3572	5	KIAA1009	6	84911454	Splice_Site	SNP	C	TCGA-32-5222-01A-01D-1486-08	10847540	84911454	86203613	34	16793											
RAET1G	353091	broad.mit.edu	37	6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:150240886G>A	uc010kii.1	-	1	220	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1G_uc003qnm.2_Non-coding_Transcript	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	Homo sapiens retinoic acid early transcript 1G (RAET1G), mRNA.	51	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	p.A51A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532													A	150240886	G	A	150240886	3	1	241	1	0	0	0	0	1	0	0	0	13000	1087	38	1	868	1	RAET1G	6	150240886	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	65329432	150240886	20874181	35	16794											
HECW1	23072	broad.mit.edu	37	7	43484403	43484403	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:43484403G>A	uc003tid.1	+	10	2237	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	HECW1_uc011kbi.1_Silent_p.T544T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCTGGAGACGGTGATCGCGT	0.672													A	43484403	G	A	43484403	2	1	241	1	0	0	0	0	0	0	0	1	7042	1103	39	2		2	HECW1	7	43484403	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08		43484403	115654260	36	16795											
SEMA3C	10512	broad.mit.edu	37	7	80433421	80433421	+	Splice_Site	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:80433421C>G	uc011kgw.2	-	8	934	c.855_splice	c.e8+1	p.P285_splice	SEMA3C_uc003uhj.3_Splice_Site_p.P267_splice|SEMA3C_uc011kgx.1_Splice_Site_p.P119_splice	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	267	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTAATACTTACAGGACATATT	0.323													G	80433421	C	G	80433421	5	3	241	1	0	0	0	0	0	0	1	0	14026	492	17	5	1497	5	SEMA3C	7	80433421	Splice_Site	SNP	C	TCGA-32-5222-01A-01D-1486-08	36949018	80433421	78705242	37	16796											
PCLO	27445	broad.mit.edu	37	7	82585982	82585982	+	Silent	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:82585982A>G	uc003uhx.2	-	4	4576	c.4287T>C	c.(4285-4287)gaT>gaC	p.D1429D	PCLO_uc003uhv.2_Silent_p.D1429D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1360					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.D1429N(1)		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						CTGACTTTTCATCAGCAAGTG	0.398													G	82585982	A	G	82585982	2	3	241	1	0	0	0	0	0	0	0	1	11583	214	8	4		4	PCLO	7	82585982	Silent	SNP	A	TCGA-32-5222-01A-01D-1486-08	2152561	82585982	76552681	38	16797											
ADAM28	10863	broad.mit.edu	37	8	24178776	24178776	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:24178776T>C	uc003xdy.3	+	7	777	c.694T>C	c.(694-696)Ttt>Ctt	p.F232L	ADAM28_uc003xdx.3_Missense_Mutation_p.F232L|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Intron	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	232	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAAGAGGGTATTTGAGATGGC	0.323													C	24178776	T	C	24178776	3	2	241	1	0	0	0	0	1	0	0	0	246	1493	52	4	724	4	ADAM28	8	24178776	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08		24178776	122185246	39	16798											
ST18	9705	broad.mit.edu	37	8	53044717	53044717	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:53044717C>T	uc003xqz.2	-	16	2623	c.2467G>A	c.(2467-2469)Ggc>Agc	p.G823S	ST18_uc011ldq.1_Missense_Mutation_p.G470S|ST18_uc011ldr.1_Missense_Mutation_p.G788S|ST18_uc011lds.1_Missense_Mutation_p.G728S|ST18_uc003xra.2_Missense_Mutation_p.G823S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	823						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGACCTTGGCCATCACACCCT	0.498													T	53044717	C	T	53044717	3	4	241	1	0	0	0	0	1	0	0	0	15211	594	21	3	696	3	ST18	8	53044717	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	28865941	53044717	93319305	40	16799											
ZNF623	9831	broad.mit.edu	37	8	144732707	144732707	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:144732707T>C	uc003yzd.2	+	0	754	c.665T>C	c.(664-666)cTg>cCg	p.L222P	ZNF623_uc011lkp.1_Missense_Mutation_p.L182P|ZNF623_uc003yzc.2_Missense_Mutation_p.L182P	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTTCAGACCTGATTAGGCAC	0.478													C	144732707	T	C	144732707	3	2	241	1	0	0	0	0	1	0	0	0	18044	1580	55	4	667	4	ZNF623	8	144732707	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	91687990	144732707	1631315	41	16800											
PLEC	5339	broad.mit.edu	37	8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	rs137853161		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:144994985G>A	uc003zaf.1	-	31	9585	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_uc003zab.1_Nonsense_Mutation_p.R3002*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3006*|PLEC_uc003zad.2_Nonsense_Mutation_p.R3002*|PLEC_uc003zae.1_Nonsense_Mutation_p.R2970*|PLEC_uc003zag.1_Nonsense_Mutation_p.R2980*|PLEC_uc003zah.2_Nonsense_Mutation_p.R2988*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R3029*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3139	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCACCTCGCTGCAGCTGC	0.687													A	144994985	G	A	144994985	4	1	241	1	0	0	0	0	0	1	0	0	12052	1095	38	1	4643	1	PLEC	8	144994985	Nonsense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	262278	144994985	1369037	42	16801											
HEMGN	55363	broad.mit.edu	37	9	100692686	100692686	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:100692686C>T	uc004axy.3	-	2	1099	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	HEMGN_uc004axz.3_Missense_Mutation_p.E331K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	331					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAATAATTTCGTTACATGTT	0.358													T	100692686	C	T	100692686	3	4	241	1	0	0	0	0	1	0	0	0	7050	893	31	2	471	2	HEMGN	9	100692686	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		100692686	40520745	43	16802											
OR13C3	138803	broad.mit.edu	37	9	107298286	107298286	+	Missense_Mutation	SNP	G	G	A	rs145157195		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:107298286G>A	uc004bcb.1	-	0	809	c.809C>T	c.(808-810)aCg>aTg	p.T270M		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGCTGAGCACGTGGAAAATGC	0.428													A	107298286	G	A	107298286	3	1	241	1	0	0	0	0	1	0	0	0	10935	1145	40	1	238	1	OR13C3	9	107298286	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	6605600	107298286	33915145	44	16803											
OR13C8	138802	broad.mit.edu	37	9	107331551	107331551	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:107331551T>C	uc011lvo.2	+	0	103	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTTGTGGATGTACCTGATGAT	0.443													C	107331551	T	C	107331551	3	2	241	1	0	0	0	0	1	0	0	0	10938	1638	57	4	105	4	OR13C8	9	107331551	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	33265	107331551	33881880	45	16804											
PTEN	5728	broad.mit.edu	37	10	89692902	89692902	+	Missense_Mutation	SNP	G	G	A	rs121909218		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr10:89692902G>A	uc001kfb.3	+	4	1418	c.386G>A	c.(385-387)gGa>gAa	p.G129E	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	129	Phosphatase tensin-type.		G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.K128_R130del(8)|p.K128N(7)|p.G129R(7)|p.G129V(6)|p.?(5)|p.R55fs*1(5)|p.G129E(4)|p.G129*(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(2)|p.G129fs*51(1)|p.G129fs*5(1)|p.G127fs*5(1)|p.G129fs*50(1)|p.K128Q(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTGGAAAGGGACGAACTGGT	0.413		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692902	G	A	89692902	3	1	241	1	0	0	0	0	1	0	0	0	12738	1174	41	3	404	3	PTEN	10	89692902	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		89692902	45841845	46	16805											
UBQLN3	50613	broad.mit.edu	37	11	5529018	5529018	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:5529018G>A	uc021qcw.1	-	0	1771	c.1771C>T	c.(1771-1773)Ctt>Ttt	p.L591F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.L591F	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	591										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGGGAAAGGAAGCCCAGC	0.527													A	5529018	G	A	5529018	3	1	241	1	0	0	0	0	1	0	0	0	16895	1000	35	3	200	3	UBQLN3	11	5529018	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		5529018	129477498	47	16806											
PAMR1	25891	broad.mit.edu	37	11	35454046	35454046	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:35454046G>A	uc001mwf.3	-	11	2115	c.2072C>T	c.(2071-2073)cCg>cTg	p.P691L	PAMR1_uc001mwg.3_Missense_Mutation_p.P674L|PAMR1_uc010rew.2_Missense_Mutation_p.P563L|PAMR1_uc010rex.2_Missense_Mutation_p.P634L	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	674	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCTCGTCCCGGGAAGGACAC	0.567													A	35454046	G	A	35454046	3	1	241	1	0	0	0	0	1	0	0	0	11413	1116	39	2	145	2	PAMR1	11	35454046	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	29925028	35454046	99552470	48	16807											
ALX4	60529	broad.mit.edu	37	11	44331575	44331575	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:44331575G>A	uc001myb.3	-	0	142	c.38C>T	c.(37-39)cCg>cTg	p.P13L		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	13					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GGCAGCGGCCGGCGACTCGCA	0.682													A	44331575	G	A	44331575	3	1	241	1	0	0	0	0	1	0	0	0	558	1116	39	2	1213	2	ALX4	11	44331575	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	8877529	44331575	90674941	49	16808											
SLC22A11	55867	broad.mit.edu	37	11	64335161	64335161	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:64335161C>T	uc001oai.3	+	6	1523	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	SLC22A11_uc009ypq.3_Intron	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	383					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	p.G382R(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TCTTCGGGGCCGTGGACTTCC	0.642													T	64335161	C	T	64335161	2	4	241	1	0	0	0	0	0	0	0	1	14442	639	23	2		2	SLC22A11	11	64335161	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	20003586	64335161	70671355	50	16809											
PIH1D2	120379	broad.mit.edu	37	11	111943820	111943820	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:111943820G>A	uc001pmp.4	-	1	302	c.79C>T	c.(79-81)Cct>Tct	p.P27S	PIH1D2_uc009yyl.3_Missense_Mutation_p.P27S|PIH1D2_uc010rws.1_Missense_Mutation_p.P27S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.4_5'Flank|C11orf57_uc001pmr.4_5'Flank|C11orf57_uc001pmt.4_5'Flank|C11orf57_uc001pmv.4_5'Flank|C11orf57_uc001pms.4_5'Flank	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.	27										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TAGCCCTCAGGGTCACTCTGA	0.463													A	111943820	G	A	111943820	3	1	241	1	0	0	0	0	1	0	0	0	11907	1232	43	3	946	3	PIH1D2	11	111943820	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	47608659	111943820	23062696	51	16810											
ST14	6768	broad.mit.edu	37	11	130064098	130064098	+	Missense_Mutation	SNP	C	C	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:130064098C>A	uc001qfw.3	+	7	1123	c.930C>A	c.(928-930)aaC>aaA	p.N310K	ST14_uc010sca.1_Missense_Mutation_p.N120K	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	310	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCTCCCAGAACGTCCTGCTCA	0.587													A	130064098	C	A	130064098	3	1	241	1	0	0	0	0	1	0	0	0	15210	535	19	5	960	5	ST14	11	130064098	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	18120278	130064098	4942418	52	16811											
C3AR1	719	broad.mit.edu	37	12	8212173	8212173	+	Silent	SNP	C	C	T	rs138822577		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:8212173C>T	uc001qtv.1	-	1	701	c.609G>A	c.(607-609)ccG>ccA	p.P203P	C3AR1_uc021quj.1_Silent_p.P203P	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	203				P -> R (in Ref. 1; AAC50374).	blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTTCTCCAGGCGGCTGAACAA	0.408													T	8212173	C	T	8212173	2	4	241	1	0	0	0	0	0	0	0	1	2205	755	27	1		1	C3AR1	12	8212173	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08		8212173	125639722	53	16812											
KRT8	3856	broad.mit.edu	37	12	53292563	53292563	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:53292563C>T	uc009zmk.1	-	6	1206	c.1186G>A	c.(1186-1188)Gcg>Acg	p.A396T	KRT8_uc001sbd.2_Missense_Mutation_p.A368T|KRT8_uc009zml.1_Missense_Mutation_p.A368T|KRT8_uc009zmm.1_Missense_Mutation_p.A368T	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	368	Coil 2.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTGCCGCGCCATGTCCTGC	0.637													T	53292563	C	T	53292563	3	4	241	1	0	0	0	0	1	0	0	0	8493	739	26	3	361	3	KRT8	12	53292563	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	45080390	53292563	80559332	54	16813											
RPS26	6231	broad.mit.edu	37	12	56436346	56436346	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:56436346C>T	uc001sjf.3	+	1	406	c.141C>T	c.(139-141)gcC>gcT	p.A47A		NM_001029	NP_001020	P62854	RS26_HUMAN	Homo sapiens ribosomal protein S26 (RPS26), mRNA.	47					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TAGTGGAGGCCGCAGCAGTCA	0.557													T	56436346	C	T	56436346	2	4	241	1	0	0	0	0	0	0	0	1	13637	639	23	2		2	RPS26	12	56436346	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	3143783	56436346	77415549	55	16814											
TSPAN8	7103	broad.mit.edu	37	12	71523126	71523126	+	Silent	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:71523126T>C	uc009zrt.1	-	6	807	c.645A>G	c.(643-645)ggA>ggG	p.G215G	TSPAN8_uc001swk.1_Silent_p.G215G|TSPAN8_uc001swj.1_Silent_p.G215G	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	215					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TAACTGCCAGTCCAAATGATA	0.274													C	71523126	T	C	71523126	2	2	241	1	0	0	0	0	0	0	0	1	16650	1654	58	4		4	TSPAN8	12	71523126	Silent	SNP	T	TCGA-32-5222-01A-01D-1486-08	15086780	71523126	62328769	56	16815											
CCDC63	160762	broad.mit.edu	37	12	111336859	111336859	+	Silent	SNP	C	C	T	rs115748204	by1000genomes	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:111336859C>T	uc001trv.1	+	9	1467	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	CCDC63_uc010sye.1_Silent_p.D384D|CCDC63_uc001trw.1_Silent_p.D339D	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	424										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAAACTGTGACGCCACCAAGA	0.498													T	111336859	C	T	111336859	2	4	241	1	0	0	0	0	0	0	0	1	2834	535	19	1		1	CCDC63	12	111336859	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	39813733	111336859	22515036	57	16816											
USP12	219333	broad.mit.edu	37	13	27664021	27664021	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:27664021G>A	uc001uqy.3	-	6	991	c.734_splice	c.e6+1	p.R245_splice		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	245					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R245W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TAAAATTACCGTTTGTGTGCT	0.353													A	27664021	G	A	27664021	3	1	241	1	0	0	0	0	1	0	0	0	17040	1159	40	1	395	1	USP12	13	27664021	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		27664021	87505857	58	16817											
RCBTB2	1102	broad.mit.edu	37	13	49070369	49070369	+	Missense_Mutation	SNP	A	A	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:49070369A>T	uc010tgg.2	-	12	1779	c.1488T>A	c.(1486-1488)aaT>aaA	p.N496K	RCBTB2_uc001vci.3_Missense_Mutation_p.N467K|RCBTB2_uc010tgh.2_Missense_Mutation_p.N217K|RCBTB2_uc001vch.3_Missense_Mutation_p.N491K|RCBTB2_uc001vcj.3_Missense_Mutation_p.N443K	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	491	BTB 2.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GAGCGATGGCATTCTCCTCGC	0.502													T	49070369	A	T	49070369	3	4	241	1	0	0	0	0	1	0	0	0	13172	214	8	5	190	5	RCBTB2	13	49070369	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08	21406348	49070369	66099509	59	16818											
PCDH17	27253	broad.mit.edu	37	13	58207833	58207833	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:58207833G>A	uc001vhq.1	+	0	2045	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	PCDH17_uc010aec.1_Missense_Mutation_p.G385R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	385	Cadherin 4.|Gly-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			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)		TGGCAAGAACGGACAGCTGCA	0.721													A	58207833	G	A	58207833	3	1	241	1	0	0	0	0	1	0	0	0	11512	1117	39	2	1155	2	PCDH17	13	58207833	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	9137464	58207833	56962045	60	16819											
PCDH17	27253	broad.mit.edu	37	13	58208729	58208729	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:58208729G>A	uc001vhq.1	+	0	2941	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S	PCDH17_uc010aec.1_Silent_p.S683S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	683	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			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)		TCATCCGCTCGGTGAGCGGAT	0.632													A	58208729	G	A	58208729	2	1	241	1	0	0	0	0	0	0	0	1	11512	1103	39	2		2	PCDH17	13	58208729	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	896	58208729	56961149	61	16820											
AHNAK2	113146	broad.mit.edu	37	14	105418199	105418199	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr14:105418199C>T	uc010axc.1	-	6	3709	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1197						nucleus				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)			GGGAGACTCACGTCGGCCTCC	0.617													T	105418199	C	T	105418199	3	4	241	1	0	0	0	0	1	0	0	0	415	536	19	1	13802	1	AHNAK2	14	105418199	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		105418199	1931341	62	16821											
MAP1A	4130	broad.mit.edu	37	15	43818898	43818898	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:43818898C>T	uc001zrt.3	+	3	5694	c.5227C>T	c.(5227-5229)Cgg>Tgg	p.R1743W		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1743						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTACCCCTGCGGGAACACGC	0.597													T	43818898	C	T	43818898	3	4	241	1	0	0	0	0	1	0	0	0	9227	759	27	1	5229	1	MAP1A	15	43818898	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		43818898	58712494	63	16822											
BNC1	646	broad.mit.edu	37	15	83935703	83935703	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:83935703C>T	uc002bjt.1	-	2	408	c.320G>A	c.(319-321)cGc>cAc	p.R107H	BNC1_uc010uos.1_Missense_Mutation_p.R95H	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	107					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R107C(2)|p.V106I(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						GATTTTTAGGCGAACGGGGAT	0.507													T	83935703	C	T	83935703	3	4	241	1	0	0	0	0	1	0	0	0	1474	768	27	1	2676	1	BNC1	15	83935703	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	40116805	83935703	18595689	64	16823											
PCSK6	5046	broad.mit.edu	37	15	101929721	101929721	+	Missense_Mutation	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:101929721A>G	uc002bxa.2	-	9	1569	c.1255T>C	c.(1255-1257)Tca>Cca	p.S419P	PCSK6_uc010bpd.3_Missense_Mutation_p.S290P|PCSK6_uc002bwy.3_Missense_Mutation_p.S419P|PCSK6_uc010bpe.3_Missense_Mutation_p.S416P|PCSK6_uc002bxb.2_Missense_Mutation_p.S419P|PCSK6_uc002bxc.1_Missense_Mutation_p.S419P|PCSK6_uc002bxd.1_Missense_Mutation_p.S419P|PCSK6_uc002bxe.3_Missense_Mutation_p.S419P|PCSK6_uc002bxg.1_Missense_Mutation_p.S419P	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	420	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.T418T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGAGACTGAGGTCCCAGTG	0.517													G	101929721	A	G	101929721	3	3	241	1	0	0	0	0	1	0	0	0	11604	304	11	4	2186	4	PCSK6	15	101929721	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08	17994018	101929721	601671	65	16824											
TBL3	10607	broad.mit.edu	37	16	2025082	2025082	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr16:2025082C>T	uc002cnu.1	+	6	720	c.618C>T	c.(616-618)gaC>gaT	p.D206D	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.D92D|TBL3_uc010bsc.1_Silent_p.D92D|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	206					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCAGCGCCGACGGCCACACCA	0.652													T	2025082	C	T	2025082	2	4	241	1	0	0	0	0	0	0	0	1	15640	535	19	1		1	TBL3	16	2025082	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08		2025082	88329671	66	16825											
CCDC113	29070	broad.mit.edu	37	16	58287944	58287944	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr16:58287944C>T	uc002ene.3	+	2	350	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	CCDC113_uc010vid.2_Intron	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	91						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGGTATGGACCGTGGGGTAGG	0.507													T	58287944	C	T	58287944	3	4	241	1	0	0	0	0	1	0	0	0	2750	652	23	2	281	2	CCDC113	16	58287944	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	56262862	58287944	32066809	67	16826											
FLCN	201163	broad.mit.edu	37	17	17119805	17119805	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:17119805C>T	uc002gra.4	-	10	1693	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	PLD6_uc010cpn.3_Non-coding_Transcript	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	397					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACGCAGCCCACGGGAAGCATG	0.637									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				T	17119805	C	T	17119805	3	4	241	1	0	0	0	0	1	0	0	0	5921	536	19	1	566	1	FLCN	17	17119805	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		17119805	64075405	68	16827											
KRT37	8688	broad.mit.edu	37	17	39578590	39578590	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:39578590G>A	uc002hwp.1	-	3	876	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	277	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582													A	39578590	G	A	39578590	3	1	241	1	0	0	0	0	1	0	0	0	8474	1086	38	1	536	1	KRT37	17	39578590	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	22458785	39578590	41616620	69	16828											
G6PC	2538	broad.mit.edu	37	17	41063121	41063121	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:41063121T>C	uc002icb.1	+	4	831	c.752T>C	c.(751-753)gTc>gCc	p.V251A	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	251					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	p.W250*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAGAATGGGTCCACATTGAC	0.582													C	41063121	T	C	41063121	3	2	241	1	0	0	0	0	1	0	0	0	6143	1667	58	4	770	4	G6PC	17	41063121	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	1484531	41063121	40132089	70	16829											
C17orf57	124989	broad.mit.edu	37	17	45471419	45471419	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:45471419C>T	uc002iln.3	+	15	2186	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	C17orf57_uc002ilm.3_Silent_p.F489F	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	585							calcium ion binding	p.F585L(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						TTAAAGAATTCATTGATACTA	0.269													T	45471419	C	T	45471419	2	4	241	1	0	0	0	0	0	0	0	1	1865	825	29	3		3	C17orf57	17	45471419	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	4408298	45471419	35723791	71	16830											
GPR142	350383	broad.mit.edu	37	17	72368116	72368116	+	Missense_Mutation	SNP	C	C	T	rs149042051	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:72368116C>T	uc021ucp.1	+	3	766	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	GPR142_uc010wqy.2_Missense_Mutation_p.R256C	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	256						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.R256C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGGTTGACCGCTACACTGC	0.687													T	72368116	C	T	72368116	3	4	241	1	0	0	0	0	1	0	0	0	6650	652	23	2	780	2	GPR142	17	72368116	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	26896697	72368116	8827094	72	16831											
CDH7	1005	broad.mit.edu	37	18	63547824	63547824	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr18:63547824G>A	uc002lkb.3	+	11	2478	c.2052G>A	c.(2050-2052)agG>agA	p.R684R	CDH7_uc002ljz.3_Silent_p.R684R	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	684					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGACCCGGAGGGATGTGACTC	0.473													A	63547824	G	A	63547824	2	1	241	1	0	0	0	0	0	0	0	1	3115	1223	43	3		3	CDH7	18	63547824	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08		63547824	14529424	73	16832											
MED16	10025	broad.mit.edu	37	19	868170	868170	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:868170C>T	uc002lqd.1	-	15	2716	c.2565G>A	c.(2563-2565)ccG>ccA	p.P855P	MED16_uc010drw.2_3'UTR|MED16_uc002lqe.3_3'UTR|MED16_uc002lqf.3_3'UTR|MED16_uc021umc.1_Non-coding_Transcript	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	855					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|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)		GTGTGGACTGCGGGCCCAGCT	0.677													T	868170	C	T	868170	2	4	241	1	0	0	0	0	0	0	0	1	9434	755	27	1		1	MED16	19	868170	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08		868170	58260813	74	16833											
CCDC124	115098	broad.mit.edu	37	19	18054397	18054397	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:18054397C>T	uc010xpz.2	+	4	590	c.545C>T	c.(544-546)cCg>cTg	p.P182L	CCDC124_uc002nhs.3_Missense_Mutation_p.P182L	NM_001136203	NP_612451	Q96CT7	CC124_HUMAN	Homo sapiens coiled-coil domain containing 124 (CCDC124), transcript variant 2, mRNA.	182							DNA binding			central_nervous_system(1)|kidney(2)	3						GCCCAGCTGCCGCGGCTCAAA	0.637													T	18054397	C	T	18054397	3	4	241	1	0	0	0	0	1	0	0	0	2760	652	23	2	559	2	CCDC124	19	18054397	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	17186227	18054397	41074586	75	16834											
UPF1	5976	broad.mit.edu	37	19	18961017	18961017	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:18961017G>A	uc002nkg.3	+	3	870	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	UPF1_uc002nkf.3_Missense_Mutation_p.A199T	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	199	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTTCATCCCGGCCAAAGCTGA	0.612													A	18961017	G	A	18961017	3	1	241	1	0	0	0	0	1	0	0	0	17000	1203	42	3	609	3	UPF1	19	18961017	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	906620	18961017	40167966	76	16835											
PRODH2	58510	broad.mit.edu	37	19	36303168	36303168	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:36303168C>T	uc002obx.1	-	3	624	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	202					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCATACCACGCCTCACTGC	0.672													T	36303168	C	T	36303168	2	4	241	1	0	0	0	0	0	0	0	1	12549	523	19	1		1	PRODH2	19	36303168	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	17342151	36303168	22825815	77	16836											
RYR1	6261	broad.mit.edu	37	19	38991601	38991601	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:38991601G>A	uc002oit.3	+	46	7715	c.7585G>A	c.(7585-7587)Gac>Aac	p.D2529N	RYR1_uc002oiu.3_Missense_Mutation_p.D2529N|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2529	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.D2529E(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)	GTTCCTGCCCGACATGAGGGC	0.642													A	38991601	G	A	38991601	3	1	241	1	0	0	0	0	1	0	0	0	13768	1058	37	2	7771	2	RYR1	19	38991601	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	2688433	38991601	20137382	78	16837											
FCGBP	8857	broad.mit.edu	37	19	40384053	40384053	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:40384053T>C	uc002omp.4	-	20	9565	c.9557A>G	c.(9556-9558)gAg>gGg	p.E3186G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3186	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGCAGCCCTCCACACAGGG	0.652													C	40384053	T	C	40384053	3	2	241	1	0	0	0	0	1	0	0	0	5778	1551	54	4	6724	4	FCGBP	19	40384053	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	1392452	40384053	18744930	79	16838											
CNTD2	79935	broad.mit.edu	37	19	40730663	40730663	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:40730663C>T	uc010xvi.2	-	1	372	c.323G>A	c.(322-324)cGc>cAc	p.R108H	CNTD2_uc002ond.3_Intron	NM_024877	NP_079153	B4DX65	B4DX65_HUMAN	Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA.	108					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CACCAGGGCGCGCATCTCCGG	0.682													T	40730663	C	T	40730663	3	4	241	1	0	0	0	0	1	0	0	0	3636	768	27	1	616	1	CNTD2	19	40730663	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	346610	40730663	18398320	80	16839											
LYPD4	147719	broad.mit.edu	37	19	42342041	42342041	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:42342041G>A	uc002orp.1	-	3	1490	c.506C>T	c.(505-507)aCg>aTg	p.T169M	LYPD4_uc002orq.1_Missense_Mutation_p.T134M	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	169	UPAR/Ly6.					anchored to membrane|plasma membrane		p.T169T(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACTGTAACACGTAGAAGCAGC	0.488													A	42342041	G	A	42342041	3	1	241	1	0	0	0	0	1	0	0	0	9112	1145	40	1	242	1	LYPD4	19	42342041	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	1611378	42342041	16786942	81	16840											
PHLDB3	653583	broad.mit.edu	37	19	44008217	44008217	+	Missense_Mutation	SNP	T	T	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:44008217T>G	uc002own.4	-	1	313	c.54A>C	c.(52-54)gaA>gaC	p.E18D	PHLDB3_uc002owo.3_Missense_Mutation_p.E18D	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	18										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCACGTCGCATTCCGGGACCA	0.736													G	44008217	T	G	44008217	3	3	241	1	0	0	0	0	1	0	0	0	11853	1490	52	5	1928	5	PHLDB3	19	44008217	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	1666176	44008217	15120766	82	16841											
KLK15	55554	broad.mit.edu	37	19	51330300	51330300	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:51330300G>A	uc002ptl.3	-	2	346	c.315C>T	c.(313-315)aaC>aaT	p.N105N	KLK15_uc002ptm.3_Silent_p.N105N|KLK15_uc002ptn.3_Silent_p.N105N|KLK15_uc002pto.3_Silent_p.N104N|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Silent_p.N104N|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687													A	51330300	G	A	51330300	2	1	241	1	0	0	0	0	0	0	0	1	8403	1136	40	1		1	KLK15	19	51330300	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	7322083	51330300	7798683	83	16842											
SIGLEC6	946	broad.mit.edu	37	19	52034114	52034114	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:52034114G>A	uc002pwy.3	-	2	735	c.527C>T	c.(526-528)aCg>aTg	p.T176M	SIGLEC6_uc002pwz.3_Missense_Mutation_p.T176M|SIGLEC6_uc010ydb.2_Missense_Mutation_p.T140M|SIGLEC6_uc010ydc.2_Missense_Mutation_p.T176M|SIGLEC6_uc002pxa.3_Missense_Mutation_p.T176M|SIGLEC6_uc010eoz.2_Missense_Mutation_p.T165M|SIGLEC6_uc010epa.2_Missense_Mutation_p.T165M|SIGLEC6_uc010epb.2_Missense_Mutation_p.T129M	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	176	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GATGGGGGGCGTCCCCTGCTC	0.667													A	52034114	G	A	52034114	3	1	241	1	0	0	0	0	1	0	0	0	14312	1145	40	1	891	1	SIGLEC6	19	52034114	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	703814	52034114	7094869	84	16843											
LILRB1	10859	broad.mit.edu	37	19	55143056	55143056	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:55143056G>A	uc002qgj.3	+	4	516	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.R59H|LILRB1_uc002qgk.3_Missense_Mutation_p.R59H|LILRB1_uc002qgm.3_Missense_Mutation_p.R59H|LILRB1_uc010erq.3_Missense_Mutation_p.R59H|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	59	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.R59C(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)		CAGGAGTACCGTCTATATAGA	0.572										HNSCC(37;0.09)			A	55143056	G	A	55143056	3	1	241	1	0	0	0	0	1	0	0	0	8790	1145	40	1	186	1	LILRB1	19	55143056	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	3108942	55143056	3985927	85	16844											
C20orf94	128710	broad.mit.edu	37	20	10603963	10603963	+	Missense_Mutation	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:10603963A>G	uc010zre.2	+	7	1343	c.1163A>G	c.(1162-1164)gAa>gGa	p.E388G		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	388							protein binding	p.T387S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						ACAAACACTGAAAGATTATCT	0.428													G	10603963	A	G	10603963	3	3	241	1	0	0	0	0	1	0	0	0	2121	246	9	4	1189	4	C20orf94	20	10603963	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08		10603963	52421557	86	16845											
PYGB	5834	broad.mit.edu	37	20	25255279	25255279	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:25255279C>T	uc002wup.3	+	4	689	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	194					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGAGAAAGCGCGGCCTGAGTA	0.622													T	25255279	C	T	25255279	3	4	241	1	0	0	0	0	1	0	0	0	12860	759	27	1	598	1	PYGB	20	25255279	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	14651316	25255279	37770241	87	16846											
TGM2	7052	broad.mit.edu	37	20	36760804	36760804	+	Missense_Mutation	SNP	T	T	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:36760804T>A	uc002xhr.3	-	10	1814	c.1714A>T	c.(1714-1716)Atc>Ttc	p.I572F	TGM2_uc002xhq.3_Missense_Mutation_p.I173F|TGM2_uc010zvx.2_Missense_Mutation_p.I491F|TGM2_uc010zvy.2_Missense_Mutation_p.I512F|TGM2_uc002xhs.1_Missense_Mutation_p.I548F	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	572					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TAGCTGTTGATAACTGGCTCC	0.567													A	36760804	T	A	36760804	3	1	241	1	0	0	0	0	1	0	0	0	15827	1406	49	5	361	5	TGM2	20	36760804	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	11505525	36760804	26264716	88	16847											
ARFGEF2	10564	broad.mit.edu	37	20	47585807	47585807	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:47585807G>A	uc002xtx.4	+	8	1335	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	395					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGGCCCTCCAGACCCAAAGTA	0.527													A	47585807	G	A	47585807	3	1	241	1	0	0	0	0	1	0	0	0	853	942	33	3	1217	3	ARFGEF2	20	47585807	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	10825003	47585807	15439713	89	16848											
ARFGEF2	10564	broad.mit.edu	37	20	47591341	47591341	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:47591341G>A	uc002xtx.4	+	12	1856	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	568					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTGCCTCGTGTCCATTCTCA	0.517													A	47591341	G	A	47591341	2	1	241	1	0	0	0	0	0	0	0	1	853	1364	48	3		3	ARFGEF2	20	47591341	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	5534	47591341	15434179	90	16849											
ZFP64	55734	broad.mit.edu	37	20	50769893	50769893	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:50769893C>T	uc002xwl.3	-	5	1187	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.V278M|ZFP64_uc002xwn.3_Missense_Mutation_p.V226M	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCCGAGTGCACCCGCATGTGC	0.552													T	50769893	C	T	50769893	3	4	241	1	0	0	0	0	1	0	0	0	17649	507	18	3	2402	3	ZFP64	20	50769893	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	3178552	50769893	12255627	91	16850											
SLC17A9	63910	broad.mit.edu	37	20	61596500	61596500	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:61596500G>A	uc002yea.4	+	8	1111	c.927G>A	c.(925-927)acG>acA	p.T309T	SLC17A9_uc002ydz.4_Silent_p.T303T|SLC17A9_uc011aap.1_Silent_p.T329T	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	309					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAGCCATCACGGTGCGGAAGC	0.587													A	61596500	G	A	61596500	2	1	241	1	0	0	0	0	0	0	0	1	14424	1103	39	2		2	SLC17A9	20	61596500	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	10826607	61596500	1429020	92	16851											
ZNF280A	129025	broad.mit.edu	37	22	22868791	22868791	+	Missense_Mutation	SNP	C	C	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr22:22868791C>A	uc002zwe.3	-	1	1417	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.K388N	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTCGCCAGGCTTATGATGGT	0.458													A	22868791	C	A	22868791	3	1	241	1	0	0	0	0	1	0	0	0	17811	796	28	5	468	5	ZNF280A	22	22868791	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		22868791	28435775	93	16852											
FAM48B1	100130302	broad.mit.edu	37	X	24381779	24381779	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:24381779C>T	uc011mjx.2	+	0	902	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						TGTGATTTGGCCGTGCCTTCA	0.512													T	24381779	C	T	24381779	3	4	241	1	0	0	0	0	1	0	0	0	5573	739	26	3	904	3	FAM48B1	23	24381779	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		24381779	130888781	94	16853											
DMD	1756	broad.mit.edu	37	X	32380981	32380981	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:32380981C>T	uc004dda.1	-	36	5493	c.5249G>A	c.(5248-5250)aGg>aAg	p.R1750K	DMD_uc004dcw.2_Missense_Mutation_p.R406K|DMD_uc004dcx.2_Missense_Mutation_p.R409K|DMD_uc004dcz.2_Missense_Mutation_p.R1627K|DMD_uc004dcy.1_Missense_Mutation_p.R1746K|DMD_uc004ddb.1_Missense_Mutation_p.R1742K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1750	Interaction with SYNM (By similarity).				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			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)				TACTAATTTCCTGCAGTGGTC	0.468													T	32380981	C	T	32380981	3	4	241	1	0	0	0	0	1	0	0	0	4580	681	24	3	6128	3	DMD	23	32380981	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	7999202	32380981	122889579	95	16854											
PCDH19	57526	broad.mit.edu	37	X	99661954	99661954	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:99661954T>C	uc010nmz.3	-	0	3318	c.1642A>G	c.(1642-1644)Acg>Gcg	p.T548A	PCDH19_uc004efw.4_Missense_Mutation_p.T548A|PCDH19_uc004efx.4_Missense_Mutation_p.T548A	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	548	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACCCGCACCGTAGCGTTGCTT	0.587													C	99661954	T	C	99661954	3	2	241	1	0	0	0	0	1	0	0	0	11514	1638	57	4	1828	4	PCDH19	23	99661954	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	67280973	99661954	55608606	96	16855											
STAG2	10735	broad.mit.edu	37	X	123202507	123202507	+	Splice_Site	SNP	G	G	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:123202507G>T	uc004eua.3	+	24	2762	c.2358_splice	c.e24+1	p.Q786_splice	STAG2_uc004etz.4_Splice_Site_p.Q786_splice|STAG2_uc004eub.3_Splice_Site_p.Q786_splice|STAG2_uc004euc.3_Splice_Site_p.Q786_splice|STAG2_uc004eud.3_Splice_Site_p.Q786_splice|STAG2_uc004eue.3_Splice_Site_p.Q786_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	786					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAAGGAACAGGTTAGTAATTA	0.313													T	123202507	G	T	123202507	5	4	241	1	0	0	0	0	0	0	1	0	15242	1275	44	5	2445	5	STAG2	23	123202507	Splice_Site	SNP	G	TCGA-32-5222-01A-01D-1486-08	23540553	123202507	32068053	97	16856											
GABRA3	2556	broad.mit.edu	37	X	151533006	151533006	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:151533006T>C	uc010ntk.1	-	1	277	c.37A>G	c.(37-39)Agc>Ggc	p.S13G		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	13					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCCCAAGGCTGGTCATGTAA	0.443													C	151533006	T	C	151533006	3	2	241	1	0	0	0	0	1	0	0	0	6162	1580	55	4	1477	4	GABRA3	23	151533006	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	28330499	151533006	3737554	98	16857											
KIAA0090	23065	broad.mit.edu	37	1	19565777	19565777	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:19565777G>A	uc001bbo.3	-	8	1017	c.974C>T	c.(973-975)gCc>gTc	p.A325V	KIAA0090_uc001bbp.3_Missense_Mutation_p.A325V|KIAA0090_uc001bbq.3_Missense_Mutation_p.A325V|KIAA0090_uc001bbr.3_Missense_Mutation_p.A303V	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	325						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CCCAGTGGTGGCAAAGCTCAC	0.542													A	19565777	G	A	19565777	3	1	242	1	0	0	0	0	1	0	0	0	8153	1203	42	3	2067	3	KIAA0090	1	19565777	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		19565777	229684844	1	16858											
PLA2G2F	64600	broad.mit.edu	37	1	20470022	20470022	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:20470022G>A	uc009vpp.1	+	2	351	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	42					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCTGTCCTTCGTGGGCTACGG	0.637													A	20470022	G	A	20470022	3	1	242	1	0	0	0	0	1	0	0	0	11999	1145	40	1	263	1	PLA2G2F	1	20470022	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	904245	20470022	228780599	2	16859											
SPTA1	6708	broad.mit.edu	37	1	158626392	158626392	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:158626392T>A	uc001fst.1	-	19	3059	c.2860A>T	c.(2860-2862)Agt>Tgt	p.S954C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	954					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTTCATACTGTCTCCAAAT	0.408													A	158626392	T	A	158626392	3	1	242	1	0	0	0	0	1	0	0	0	15115	1580	55	5	4531	5	SPTA1	1	158626392	Missense_Mutation	SNP	T	TCGA-41-2571-01A-01D-1495-08	138156370	158626392	90624229	3	16860											
LY9	4063	broad.mit.edu	37	1	160793477	160793477	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:160793477A>G	uc001fwu.3	+	7	1771	c.1721A>G	c.(1720-1722)gAc>gGc	p.D574G	LY9_uc001fwv.3_Missense_Mutation_p.D560G|LY9_uc001fww.3_Missense_Mutation_p.D484G|LY9_uc001fwy.1_Missense_Mutation_p.D372G|LY9_uc001fwz.3_Missense_Mutation_p.D212G	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	574					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGGACATGACCCAGCCCCT	0.537													G	160793477	A	G	160793477	3	3	242	1	0	0	0	0	1	0	0	0	9101	275	10	4	1883	4	LY9	1	160793477	Missense_Mutation	SNP	A	TCGA-41-2571-01A-01D-1495-08	2167085	160793477	88457144	4	16861											
CEP350	9857	broad.mit.edu	37	1	179972355	179972355	+	Silent	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:179972355G>A	uc001gnt.3	+	6	1448	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V	CEP350_uc009wxl.2_Silent_p.V354V|CEP350_uc001gnu.3_Silent_p.V189V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	355						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGGGAAAGTGTGGCAGGAGG	0.373													A	179972355	G	A	179972355	2	1	242	1	0	0	0	0	0	0	0	1	3254	1364	48	3		3	CEP350	1	179972355	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	19178878	179972355	69278266	5	16862											
SRBD1	55133	broad.mit.edu	37	2	45773870	45773870	+	Splice_Site	SNP	C	C	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:45773870C>A	uc002rus.3	-	14	1950	c.1874_splice	c.e14+1	p.C625_splice	SRBD1_uc010yoc.2_Splice_Site_p.C144_splice	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	625					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			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)			AATAGCCTTACCAGTAAACAA	0.378													A	45773870	C	A	45773870	5	1	242	1	0	0	0	0	0	0	1	0	15132	521	18	5	1144	5	SRBD1	2	45773870	Splice_Site	SNP	C	TCGA-41-2571-01A-01D-1495-08		45773870	197425503	6	16863											
CRYGD	1421	broad.mit.edu	37	2	208986472	208986472	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:208986472G>C	uc002vcn.4	-	2	566	c.450C>G	c.(448-450)gaC>gaG	p.D150E	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Missense_Mutation_p.D150E	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	150	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGCGCCTATAGTCCCCTGGCA	0.542													C	208986472	G	C	208986472	3	2	242	1	0	0	0	0	1	0	0	0	3917	1020	36	5	78	5	CRYGD	2	208986472	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	163212602	208986472	34212901	7	16864											
CCR4	1233	broad.mit.edu	37	3	32995888	32995888	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:32995888T>A	uc003cfg.1	+	1	1142	c.974T>A	c.(973-975)cTt>cAt	p.L325H	CCR4_uc021wuw.1_Missense_Mutation_p.L325H	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	325					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGCAGGGGCCTTTTTGTGCTC	0.478													A	32995888	T	A	32995888	3	1	242	1	0	0	0	0	1	0	0	0	2943	1609	56	5	976	5	CCR4	3	32995888	Missense_Mutation	SNP	T	TCGA-41-2571-01A-01D-1495-08		32995888	165026542	8	16865											
DCP1A	55802	broad.mit.edu	37	3	53376299	53376299	+	Splice_Site	SNP	C	C	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:53376299C>A	uc021wzi.1	-	3	287	c.177_splice	c.e3-1	p.R59_splice	DCP1A_uc021wzk.1_Splice_Site_p.R59_splice	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	Homo sapiens DCP1 decapping enzyme homolog A (S. cerevisiae) (DCP1A), mRNA.	59					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGAAGCTGACCTTAGATTTAA	0.294													A	53376299	C	A	53376299	5	1	242	1	0	0	0	0	0	0	1	0	4298	695	24	5	1604	5	DCP1A	3	53376299	Splice_Site	SNP	C	TCGA-41-2571-01A-01D-1495-08	20380411	53376299	144646131	9	16866											
CD96	10225	broad.mit.edu	37	3	111356983	111356983	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:111356983G>A	uc003dxw.3	+	12	1663	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	CD96_uc003dxx.3_Missense_Mutation_p.G482E|CD96_uc010hpy.1_Missense_Mutation_p.G481E	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	498	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACTGCCAATGGATCTACGAAA	0.383									Opitz Trigonocephaly syndrome				A	111356983	G	A	111356983	3	1	242	1	0	0	0	0	1	0	0	0	3048	1174	41	3	1543	3	CD96	3	111356983	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	57980684	111356983	86665447	10	16867											
HPS3	84343	broad.mit.edu	37	3	148857895	148857895	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:148857895A>C	uc003ewu.1	+	1	462	c.322A>C	c.(322-324)Atg>Ctg	p.M108L	HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_Missense_Mutation_p.M1L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	108						cytoplasm				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)			GTGTATCCGAATGATTGGGCA	0.423									Hermansky-Pudlak syndrome				C	148857895	A	C	148857895	3	2	242	1	0	0	0	0	1	0	0	0	7340	101	4	5	328	5	HPS3	3	148857895	Missense_Mutation	SNP	A	TCGA-41-2571-01A-01D-1495-08	37500912	148857895	49164535	11	16868											
CPN2	1370	broad.mit.edu	37	3	194062087	194062087	+	Missense_Mutation	SNP	G	G	A	rs142681810		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:194062087G>A	uc003fts.3	-	1	1435	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	CPN2_uc021xix.1_Missense_Mutation_p.R449W	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	449					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGTGGTCCCGGGTGACGGGA	0.647													A	194062087	G	A	194062087	3	1	242	1	0	0	0	0	1	0	0	0	3810	1115	39	2	296	2	CPN2	3	194062087	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	45204192	194062087	3960343	12	16869											
TLR1	7096	broad.mit.edu	37	4	38798601	38798601	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:38798601G>A	uc003gtl.3	-	3	2126	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	TLR1_uc021xnn.1_Nonsense_Mutation_p.Q618*	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	618					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CGCCGGGTCTGGGTCCACTGG	0.522													A	38798601	G	A	38798601	4	1	242	1	0	0	0	0	0	1	0	0	15946	1357	47	3	512	3	TLR1	4	38798601	Nonsense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		38798601	152355675	13	16870											
CCDC158	339965	broad.mit.edu	37	4	77288529	77288529	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:77288529C>T	uc003hkb.4	-	10	1901	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	583								p.R583Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458													T	77288529	C	T	77288529	3	4	242	1	0	0	0	0	1	0	0	0	2790	884	31	2	1649	2	CCDC158	4	77288529	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	38489928	77288529	113865747	14	16871											
PPA2	27068	broad.mit.edu	37	4	106317427	106317427	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:106317427C>T	uc003hxl.3	-	8	868	c.848G>A	c.(847-849)tGt>tAt	p.C283Y	PPA2_uc003hxn.3_Missense_Mutation_p.C254Y|PPA2_uc003hxo.3_Missense_Mutation_p.C181Y|PPA2_uc003hxp.3_Missense_Mutation_p.C117Y|PPA2_uc003hxq.3_Missense_Mutation_p.C190Y	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	283					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TCCTCCATTACACTTCTTCAT	0.294													T	106317427	C	T	106317427	3	4	242	1	0	0	0	0	1	0	0	0	12287	478	17	3	172	3	PPA2	4	106317427	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	29028898	106317427	84836849	15	16872											
RAPGEF6	96459	broad.mit.edu	37	5	131039794	131039794	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr5:131039794T>C	uc003kvs.1	-	9	1222	c.1080A>G	c.(1078-1080)gaA>gaG	p.E360E	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.E332E|RAPGEF6_uc010jdm.1_Silent_p.E315E|RAPGEF6_uc003kvu.3_Silent_p.E360E	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCATGTGGCTTTCAAAGAGAG	0.269													C	131039794	T	C	131039794	2	2	242	1	0	0	0	0	0	0	0	1	13048	1838	64	4		4	RAPGEF6	5	131039794	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08		131039794	49875466	16	16873											
PCDHGC5	56108	broad.mit.edu	37	5	140763059	140763059	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr5:140763059G>A	uc003lka.2	+	0	593	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.R198Q	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	198	Cadherin 2.				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)			GTGCTGGAGCGGGTGCTGGAC	0.622													A	140763059	G	A	140763059	3	1	242	1	0	0	0	0	1	0	0	0	11571	1116	39	2		2	PCDHGC5	5	140763059	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	9723265	140763059	40152201	17	16874											
HLA-E	3133	broad.mit.edu	37	6	30458930	30458930	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:30458930C>T	uc011dmh.2	+	2	777	c.750C>T	c.(748-750)caC>caT	p.H250H	HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Silent_p.H209H			P13747	HLAE_HUMAN	Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA.	209	Alpha-3.|Ig-like C1-type.				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			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CAAAGACACACGTGACTCACC	0.582													T	30458930	C	T	30458930	2	4	242	1	0	0	0	0	0	0	0	1	7210	535	19	1		1	HLA-E	6	30458930	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08		30458930	140656137	18	16875											
DST	667	broad.mit.edu	37	6	56357035	56357035	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:56357035C>G	uc003pcy.4	-	65	12986	c.12878G>C	c.(12877-12879)aGa>aCa	p.R4293T	DST_uc003pda.4_5'UTR	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6705					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			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)			CTGCTTGGCTCTCTTCCTTGC	0.373													G	56357035	C	G	56357035	3	3	242	1	0	0	0	0	1	0	0	0	4783	913	32	5	2713	5	DST	6	56357035	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	25898105	56357035	114758032	19	16876											
COL19A1	1310	broad.mit.edu	37	6	70878104	70878104	+	Silent	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:70878104T>A	uc003pfc.1	+	38	2655	c.2538T>A	c.(2536-2538)ccT>ccA	p.P846P		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	846	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACCCGGTCCTCCTGTAAGTA	0.383													A	70878104	T	A	70878104	2	1	242	1	0	0	0	0	0	0	0	1	3676	1538	54	5		5	COL19A1	6	70878104	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08	14521069	70878104	100236963	20	16877											
TBP	6908	broad.mit.edu	37	6	170878836	170878836	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:170878836G>T	uc003qxu.3	+	5	1093	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C	TBP_uc011ehf.2_Missense_Mutation_p.G252C|TBP_uc003qxt.3_Missense_Mutation_p.G272C	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	272					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		AAGGTTAGAAGGCCTTGTGCT	0.368													T	170878836	G	T	170878836	3	4	242	1	0	0	0	0	1	0	0	0	15641	1000	35	5	832	5	TBP	6	170878836	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	100000732	170878836	236231	21	16878											
C7orf65	401335	broad.mit.edu	37	7	47698751	47698751	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:47698751G>T	uc010kyp.1	+	2	416	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	127										endometrium(1)|lung(2)	3						ACCCCTGGAAGGATGCTCAGG	0.552													T	47698751	G	T	47698751	3	4	242	1	0	0	0	0	1	0	0	0	2411	991	35	5	391	5	C7orf65	7	47698751	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		47698751	111439912	22	16879											
PPP1R3A	5506	broad.mit.edu	37	7	113558904	113558904	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:113558904C>T	uc010ljy.1	-	0	179	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	50					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TATATGTCTTCAGAAGAATCA	0.388													T	113558904	C	T	113558904	3	4	242	1	0	0	0	0	1	0	0	0	12371	835	29	3	3236	3	PPP1R3A	7	113558904	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	65860153	113558904	45579759	23	16880											
ANKRD7	56311	broad.mit.edu	37	7	117864828	117864828	+	Translation_Start_Site	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:117864828C>T	uc003vji.3	+	0						NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.						male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCAGGGCGGACGGCTAGGAGT	0.602													T	117864828	C	T	117864828	1	4	242	1	0	0	0	0	0	0	0	0	686	551	19	1		1	ANKRD7	7	117864828	Translation_Start_Site	SNP	C	TCGA-41-2571-01A-01D-1495-08	4305924	117864828	41273835	24	16881											
TBXAS1	6916	broad.mit.edu	37	7	139655361	139655361	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:139655361C>T	uc011kqv.2	+	7	1019	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	TBXAS1_uc003vvh.3_Missense_Mutation_p.R216C|TBXAS1_uc010lne.3_Missense_Mutation_p.R148C|TBXAS1_uc011kqu.2_Missense_Mutation_p.R167C|TBXAS1_uc003vvi.3_Missense_Mutation_p.R216C|TBXAS1_uc011kqw.2_Missense_Mutation_p.R196C|TBXAS1_uc003vvj.3_Missense_Mutation_p.R216C	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	215					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ACACTGCAAGCGTTTCTTCGA	0.577													T	139655361	C	T	139655361	3	4	242	1	0	0	0	0	1	0	0	0	15661	768	27	1	814	1	TBXAS1	7	139655361	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	21790533	139655361	19483302	25	16882											
TACC1	6867	broad.mit.edu	37	8	38677275	38677275	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr8:38677275T>C	uc010lwp.3	+	2	892	c.513T>C	c.(511-513)gcT>gcC	p.A171A	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Silent_p.A126A|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Silent_p.A187A|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Silent_p.A171A|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	171	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	p.A171V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAAAAGCAGCTCATGGCTGTG	0.532													C	38677275	T	C	38677275	2	2	242	1	0	0	0	0	0	0	0	1	15498	1538	54	4		4	TACC1	8	38677275	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08		38677275	107686747	26	16883											
KANK1	23189	broad.mit.edu	37	9	732407	732407	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr9:732407G>T	uc003zgl.1	+	9	3684	c.3035G>T	c.(3034-3036)aGc>aTc	p.S1012I	KANK1_uc003zgm.3_3'UTR|KANK1_uc003zgn.1_Missense_Mutation_p.S1012I|KANK1_uc003zgs.1_Missense_Mutation_p.S854I|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	1012					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GATGATTCCAGCTCAGATGAA	0.458													T	732407	G	T	732407	3	4	242	1	0	0	0	0	1	0	0	0	7976	971	34	5	3053	5	KANK1	9	732407	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		732407	140481024	27	16884											
STXBP1	6812	broad.mit.edu	37	9	130444743	130444743	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr9:130444743C>T	uc004brk.2	+	17	1803	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	STXBP1_uc004brl.2_Missense_Mutation_p.R536C	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	536					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CAGTGGCCCCCGCCTCATCAT	0.562													T	130444743	C	T	130444743	3	4	242	1	0	0	0	0	1	0	0	0	15351	652	23	2	1676	2	STXBP1	9	130444743	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	129712336	130444743	10768688	28	16885											
LARP4B	23185	broad.mit.edu	37	10	882389	882389	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:882389C>T	uc001ifs.1	-	6	745	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	235	HTH La-type RNA-binding.						nucleotide binding|RNA binding	p.R235C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TACTATGCAGCGATTTTGATT	0.353													T	882389	C	T	882389	3	4	242	1	0	0	0	0	1	0	0	0	8631	768	27	1	1556	1	LARP4B	10	882389	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		882389	134652358	29	16886											
CDH23	64072	broad.mit.edu	37	10	73462359	73462359	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:73462359T>C	uc001jrx.4	+	22	3025	c.2635T>C	c.(2635-2637)Ttg>Ctg	p.L879L	CDH23_uc001jry.3_Silent_p.L879L|CDH23_uc001jrz.3_Silent_p.L879L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	881	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTGAACCTCTTGGATCTCAA	0.577													C	73462359	T	C	73462359	2	2	242	1	0	0	0	0	0	0	0	1	3108	1606	56	4		4	CDH23	10	73462359	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08	72579970	73462359	62072388	30	16887											
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	242	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	16255313	89717672	45817075	31	16888											
CALHM2	51063	broad.mit.edu	37	10	105209447	105209447	+	Silent	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:105209447G>A	uc001kxa.3	-	2	863	c.252C>T	c.(250-252)gcC>gcT	p.A84A	CALHM2_uc001kxc.3_Silent_p.A84A|CALHM2_uc001kxb.3_Silent_p.A84A|CALHM2_uc001kxd.1_Silent_p.A84A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	84						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCTGGCACTCGGCCACGAGGT	0.647													A	105209447	G	A	105209447	2	1	242	1	0	0	0	0	0	0	0	1	2583	1103	39	2		2	CALHM2	10	105209447	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	15491775	105209447	30325300	32	16889											
JAKMIP3	282973	broad.mit.edu	37	10	133954043	133954043	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:133954043C>T	uc001lkx.4	+	8	1433	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACAGACAGGACGGACCAGACC	0.607													T	133954043	C	T	133954043	3	4	242	1	0	0	0	0	1	0	0	0	7942	536	19	1	1467	1	JAKMIP3	10	133954043	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	28744596	133954043	1580704	33	16890											
EIF3M	10480	broad.mit.edu	37	11	32615446	32615446	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:32615446G>A	uc001mtu.3	+	5	611	c.568G>A	c.(568-570)Gga>Aga	p.G190R	EIF3M_uc010ref.2_Missense_Mutation_p.G58R	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.	190						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GGAATTGCTCGGAAGTTACAC	0.388													A	32615446	G	A	32615446	3	1	242	1	0	0	0	0	1	0	0	0	5023	1117	39	2	590	2	EIF3M	11	32615446	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		32615446	102391070	34	16891											
MS4A14	84689	broad.mit.edu	37	11	60183725	60183725	+	Silent	SNP	T	T	C			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:60183725T>C	uc001npj.3	+	4	1849	c.1284T>C	c.(1282-1284)ccT>ccC	p.P428P	MS4A14_uc001npi.3_Silent_p.P316P|MS4A14_uc001npn.3_Silent_p.P166P|MS4A14_uc001npk.3_Silent_p.P411P|MS4A14_uc001npl.3_Silent_p.P166P|MS4A14_uc001npm.3_Silent_p.P166P	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	428	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TGCAGTTCCCTGAAATACAAC	0.423													C	60183725	T	C	60183725	2	2	242	1	0	0	0	0	0	0	0	1	9858	1567	55	4		4	MS4A14	11	60183725	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08	27568279	60183725	74822791	35	16892											
HEPHL1	341208	broad.mit.edu	37	11	93796724	93796724	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:93796724G>T	uc001pep.2	+	2	623	c.466G>T	c.(466-468)Gtt>Ttt	p.V156F		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	156	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGATGACATGGTTCCTCCTGG	0.433													T	93796724	G	T	93796724	3	4	242	1	0	0	0	0	1	0	0	0	7055	1261	44	5	476	5	HEPHL1	11	93796724	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	33612999	93796724	41209792	36	16893											
PIWIL4	143689	broad.mit.edu	37	11	94335056	94335056	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:94335056C>T	uc001pfa.3	+	11	1687	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	492					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTTATGTAGCGACAGAACTG	0.423													T	94335056	C	T	94335056	2	4	242	1	0	0	0	0	0	0	0	1	11960	767	27	1		1	PIWIL4	11	94335056	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08	538332	94335056	40671460	37	16894											
ANO2	57101	broad.mit.edu	37	12	5908716	5908716	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:5908716G>A	uc001qnm.2	-	9	1072	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	339						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCCATAGCGCGCCCATTCT	0.423													A	5908716	G	A	5908716	3	1	242	1	0	0	0	0	1	0	0	0	697	1087	38	1	2064	1	ANO2	12	5908716	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		5908716	127943179	38	16895											
VWF	7450	broad.mit.edu	37	12	6128359	6128359	+	Missense_Mutation	SNP	C	C	T	rs61750078		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:6128359C>T	uc001qnn.1	-	27	4475	c.4225G>A	c.(4225-4227)Gtc>Atc	p.V1409I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1409	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCACAATGACCTTCTTCTTC	0.607													T	6128359	C	T	6128359	3	4	242	1	0	0	0	0	1	0	0	0	17243	507	18	3	4316	3	VWF	12	6128359	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	219643	6128359	127723536	39	16896											
ELK3	2004	broad.mit.edu	37	12	96641080	96641080	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:96641080C>T	uc001teo.1	+	2	849	c.570C>T	c.(568-570)acC>acT	p.T190T		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	190					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCAATAAAACCGACAAGCACG	0.622													T	96641080	C	T	96641080	2	4	242	1	0	0	0	0	0	0	0	1	5060	639	23	2		2	ELK3	12	96641080	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08	90512721	96641080	37210815	40	16897											
UGGT2	55757	broad.mit.edu	37	13	96648323	96648323	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr13:96648323T>A	uc001vmt.3	-	6	994	c.824A>T	c.(823-825)aAa>aTa	p.K275I	UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.K275I	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	275					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTACTTTAGTTTCCCAAAGAG	0.313													A	96648323	T	A	96648323	3	1	242	1	0	0	0	0	1	0	0	0	16939	1841	64	5	3858	5	UGGT2	13	96648323	Missense_Mutation	SNP	T	TCGA-41-2571-01A-01D-1495-08		96648323	18521555	41	16898											
C14orf135	64430	broad.mit.edu	37	14	60582118	60582118	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr14:60582118C>G	uc001xer.4	+	2	1116	c.594C>G	c.(592-594)ttC>ttG	p.F198L	C14orf135_uc001xeq.2_Missense_Mutation_p.F198L|C14orf135_uc010apm.3_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	432						integral to membrane		p.V197V(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TGACTGTATTCTTTGAGAAGC	0.343													G	60582118	C	G	60582118	3	3	242	1	0	0	0	0	1	0	0	0	1745	912	32	5	600	5	C14orf135	14	60582118	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		60582118	46767422	42	16899											
MAP2K1	5604	broad.mit.edu	37	15	66679706	66679706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:66679706delG	uc010bhq.3	+	0	496	c.21delG	c.(19-21)acgfs	p.T7fs		NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	7					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						AGAAGCCGACGCCCATCCAGC	0.697													-	66679706	G	-	66679706	7	5	242	1	0	1	0	1	0	0	0	0	9236	1074	38	0	23	0	MAP2K1	15	66679706	Frame_Shift_Del	DEL	G	TCGA-41-2571-01A-01D-1495-08		66679706	35851686	43	16900											
SLC28A1	9154	broad.mit.edu	37	15	85478399	85478399	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:85478399G>A	uc002blg.3	+	13	1559	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	SLC28A1_uc010bnb.3_Missense_Mutation_p.V453M|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.V453M|SLC28A1_uc010upg.1_Missense_Mutation_p.V453M	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	453					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGAGACATGGTGGACATCCA	0.592													A	85478399	G	A	85478399	3	1	242	1	0	0	0	0	1	0	0	0	14531	1261	44	3	1474	3	SLC28A1	15	85478399	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	18798693	85478399	17052993	44	16901											
MFGE8	4240	broad.mit.edu	37	15	89453040	89453040	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:89453040C>T	uc002bng.4	-	1	301	c.188G>A	c.(187-189)gGc>gAc	p.G63D	MFGE8_uc002bnf.4_5'UTR|MFGE8_uc002bnh.4_Missense_Mutation_p.G63D|MFGE8_uc010bnn.3_Missense_Mutation_p.G55D|MFGE8_uc010upq.2_Intron|MFGE8_uc010bno.3_Intron	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	63	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACAGTGGTTGCCCGCGTAGCC	0.572													T	89453040	C	T	89453040	3	4	242	1	0	0	0	0	1	0	0	0	9520	739	26	3	1003	3	MFGE8	15	89453040	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	3974641	89453040	13078352	45	16902											
ALDOA	226	broad.mit.edu	37	16	30080984	30080984	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:30080984C>T	uc010veg.2	+	7	1219	c.951C>T	c.(949-951)ccC>ccT	p.P317P	BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Silent_p.P263P|ALDOA_uc002dvw.3_Silent_p.P263P|ALDOA_uc002dvz.3_Silent_p.P263P|ALDOA_uc002dwa.4_Silent_p.P263P|ALDOA_uc002dwc.3_Silent_p.P263P	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN	Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.	263					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CAGTGCCCCCCGCTGTCACTG	0.562													T	30080984	C	T	30080984	2	4	242	1	0	0	0	0	0	0	0	1	507	639	23	2		2	ALDOA	16	30080984	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08		30080984	60273769	46	16903											
KIAA0182	23199	broad.mit.edu	37	16	85701868	85701868	+	Frame_Shift_Del	DEL	C	C	-			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:85701868delC	uc002fix.3	+	13	3327	c.3253delC	c.(3253-3255)cccfs	p.P1085fs	KIAA0182_uc002fiw.3_Frame_Shift_Del_p.P981fs|KIAA0182_uc002fiy.3_Frame_Shift_Del_p.P1012fs|KIAA0182_uc002fiz.3_Frame_Shift_Del_p.P227fs|KIAA0182_uc010cho.3_Frame_Shift_Del_p.P265fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	1085							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						GCAGCAGGAGCCCCCCACTGC	0.607													-	85701868	C	-	85701868	7	5	242	1	0	1	0	1	0	0	0	0	8159	739	26	0	3307	0	KIAA0182	16	85701868	Frame_Shift_Del	DEL	C	TCGA-41-2571-01A-01D-1495-08	55620884	85701868	4652885	47	16904											
ABR	29	broad.mit.edu	37	17	914060	914060	+	Silent	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:914060G>A	uc002fsd.3	-	19	2255	c.2145C>T	c.(2143-2145)aaC>aaT	p.N715N	ABR_uc002fse.3_Silent_p.N669N|ABR_uc010vqf.2_Silent_p.N166N|ABR_uc010vqg.2_Silent_p.N497N|ABR_uc002fsg.3_Silent_p.N678N|ABR_uc002fsh.1_Silent_p.N323N|ABR_uc002fsf.3_Silent_p.N252N	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	715	Rho-GAP.				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	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGGCGATGGCGTTGATGTCCA	0.637													A	914060	G	A	914060	2	1	242	1	0	0	0	0	0	0	0	1	99	1136	40	1		1	ABR	17	914060	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08		914060	80281150	48	16905											
MNT	4335	broad.mit.edu	37	17	2290511	2290511	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:2290511G>A	uc002fur.3	-	5	1685	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	478					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAGTTGCACCGCAGGGCTGGG	0.667													A	2290511	G	A	2290511	3	1	242	1	0	0	0	0	1	0	0	0	9678	1087	38	1	319	1	MNT	17	2290511	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	1376451	2290511	78904699	49	16906											
COL1A1	1277	broad.mit.edu	37	17	48268238	48268238	+	Silent	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:48268238G>T	uc002iqm.3	-	32	2409	c.2283C>A	c.(2281-2283)ggC>ggA	p.G761G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	761	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.G761G(6)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GACCACGGACGCCATCTTTGC	0.587			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						T	48268238	G	T	48268238	2	4	242	1	0	0	0	0	0	0	0	1	3677	1074	38	5		5	COL1A1	17	48268238	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	45977727	48268238	32926972	50	16907											
GPR142	350383	broad.mit.edu	37	17	72367987	72367987	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:72367987G>A	uc021ucp.1	+	3	637	c.628G>A	c.(628-630)Gcg>Acg	p.A210T	GPR142_uc010wqy.2_Missense_Mutation_p.A213T	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	213						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CATCGTGTTCGCGGGCTTCCT	0.652													A	72367987	G	A	72367987	3	1	242	1	0	0	0	0	1	0	0	0	6650	1087	38	1	651	1	GPR142	17	72367987	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	24099749	72367987	8827223	51	16908											
SLC14A2	8170	broad.mit.edu	37	18	43205722	43205722	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr18:43205722C>T	uc002lbe.3	+	2	1041	c.225C>T	c.(223-225)gaC>gaT	p.D75D	SLC14A2_uc002lbb.3_Silent_p.D75D|SLC14A2_uc010dnj.3_Silent_p.D75D	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	75						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAGGAAAGACGACGGGGTGG	0.517													T	43205722	C	T	43205722	2	4	242	1	0	0	0	0	0	0	0	1	14397	535	19	1		1	SLC14A2	18	43205722	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08		43205722	34871526	52	16909											
DUS3L	56931	broad.mit.edu	37	19	5785666	5785666	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:5785666C>T	uc002mdc.3	-	10	1796	c.1699G>A	c.(1699-1701)Ggc>Agc	p.G567S	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Missense_Mutation_p.G325S	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	567					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTCTCCACGCCCTGCGTGTCC	0.706													T	5785666	C	T	5785666	3	4	242	1	0	0	0	0	1	0	0	0	4807	623	22	3	265	3	DUS3L	19	5785666	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		5785666	53343317	53	16910											
CD209	30835	broad.mit.edu	37	19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	rs139712001	byFrequency	TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:7809880C>T	uc002mht.2	-	4	914	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_uc010xju.1_Missense_Mutation_p.A122T|CD209_uc010dvp.2_Missense_Mutation_p.A259T|CD209_uc002mhr.2_Missense_Mutation_p.A259T|CD209_uc002mhs.2_Missense_Mutation_p.A213T|CD209_uc002mhu.2_Missense_Mutation_p.A191T|CD209_uc010dvq.2_Missense_Mutation_p.A283T|CD209_uc002mhq.2_Missense_Mutation_p.A283T|CD209_uc002mhv.2_Missense_Mutation_p.A259T|CD209_uc002mhx.2_Missense_Mutation_p.A239T|CD209_uc002mhw.2_Missense_Mutation_p.A147T|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	283	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A283T(2)|p.T282T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													T	7809880	C	T	7809880	3	4	242	1	0	0	0	0	1	0	0	0	2984	768	27	1	379	1	CD209	19	7809880	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	2024214	7809880	51319103	54	16911											
ARMC6	93436	broad.mit.edu	37	19	19166113	19166113	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:19166113G>T	uc002nld.3	+	6	1495	c.1063G>T	c.(1063-1065)Gca>Tca	p.A355S	ARMC6_uc002nlc.3_Missense_Mutation_p.A330S|ARMC6_uc010xql.2_Missense_Mutation_p.A262S|ARMC6_uc010xqm.2_Missense_Mutation_p.A355S	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	355							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GCGAGCCATCGCAGGCAACGA	0.627													T	19166113	G	T	19166113	3	4	242	1	0	0	0	0	1	0	0	0	955	1087	38	5	1006	5	ARMC6	19	19166113	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	11356233	19166113	39962870	55	16912											
PSG8	440533	broad.mit.edu	37	19	43259170	43259170	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:43259170G>A	uc002ouo.2	-	3	1056	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.R320C|PSG8_uc010ein.3_Missense_Mutation_p.R198C|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	320	Ig-like C2-type 2.					extracellular region		p.R320C(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTAACTGCGGATGCCACCA	0.483													A	43259170	G	A	43259170	3	1	242	1	0	0	0	0	1	0	0	0	12661	1116	39	2	351	2	PSG8	19	43259170	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	24093057	43259170	15869813	56	16913											
FAM71E1	112703	broad.mit.edu	37	19	50978584	50978584	+	Silent	SNP	G	G	A			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:50978584G>A	uc002psh.3	-	2	895	c.537C>T	c.(535-537)ttC>ttT	p.F179F	FAM71E1_uc002psg.3_Silent_p.F163F|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	179										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCAGTTACCCGAAGAGTTGCA	0.672													A	50978584	G	A	50978584	2	1	242	1	0	0	0	0	0	0	0	1	5611	1049	37	2		2	FAM71E1	19	50978584	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	7719414	50978584	8150399	57	16914											
JAG1	182	broad.mit.edu	37	20	10653470	10653470	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr20:10653470C>T	uc002wnw.2	-	1	782	c.266G>A	c.(265-267)gGg>gAg	p.G89E		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	89					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAGGGCCCCCCGGCCGTGAC	0.667									Alagille Syndrome				T	10653470	C	T	10653470	3	4	242	1	0	0	0	0	1	0	0	0	7934	623	22	3	3490	3	JAG1	20	10653470	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		10653470	52372050	58	16915											
MACROD2	140733	broad.mit.edu	37	20	15210608	15210608	+	Silent	SNP	A	A	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr20:15210608A>T	uc002wou.3	+	5	705	c.441A>T	c.(439-441)ccA>ccT	p.P147P	MACROD2_uc002wot.3_Silent_p.P147P|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	147	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTGTAGGGCCAATAGCCAGGG	0.353													T	15210608	A	T	15210608	2	4	242	1	0	0	0	0	0	0	0	1	9146	117	5	5		5	MACROD2	20	15210608	Silent	SNP	A	TCGA-41-2571-01A-01D-1495-08	4557138	15210608	47814912	59	16916											
C22orf43	51233	broad.mit.edu	37	22	23974205	23974205	+	Silent	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:23974205C>T	uc002zxf.3	-	0	304	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	2										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCAGTATATTCCCCATGGGGC	0.547													T	23974205	C	T	23974205	2	4	242	1	0	0	0	0	0	0	0	1	2150	842	30	3		3	C22orf43	22	23974205	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08		23974205	27330361	60	16917											
SF3A1	10291	broad.mit.edu	37	22	30738319	30738319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:30738319C>T	uc003ahl.3	-	5	879	c.747G>A	c.(745-747)tgG>tgA	p.W249*	SF3A1_uc021wnt.1_Nonsense_Mutation_p.W184*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	249					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGAATTTGGCCCATTCCACTC	0.542													T	30738319	C	T	30738319	4	4	242	1	0	0	0	0	0	1	0	0	14146	624	22	3	1678	3	SF3A1	22	30738319	Nonsense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	6764114	30738319	20566247	61	16918											
FAM118A	55007	broad.mit.edu	37	22	45723798	45723798	+	Missense_Mutation	SNP	C	C	T	rs140683394		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:45723798C>T	uc003bfz.4	+	4	992	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FAM118A_uc003bga.4_Missense_Mutation_p.R126W|DQ586951_uc021wri.1_5'Flank|DQ586951_uc011aqp.1_5'Flank|DQ586951_uc021wrj.1_5'Flank|DQ586951_uc011aqq.1_5'Flank|FAM118A_uc011aqr.2_5'Flank	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	126						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCAGCACATCCGGAGTCCTGT	0.592													T	45723798	C	T	45723798	3	4	242	1	0	0	0	0	1	0	0	0	5411	643	23	2	386	2	FAM118A	22	45723798	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	14985479	45723798	5580768	62	16919											
IL22RA1	58985	broad.mit.edu	37	1	24465095	24465095	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:24465095C>T	uc001biq.2	-	1	356	c.153G>A	c.(151-153)acG>acA	p.T51T	IL22RA1_uc010oeg.1_5'Flank|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Silent_p.T51T	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	51	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGCTGTAGACCGTGTCTGGGG	0.567													T	24465095	C	T	24465095	2	4	243	1	0	0	0	0	0	0	0	1	7673	639	23	2		2	IL22RA1	1	24465095	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		24465095	224785526	1	16920											
PTAFR	5724	broad.mit.edu	37	1	28477494	28477494	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:28477494G>A	uc009vte.3	-	2	374	c.39C>T	c.(37-39)ttC>ttT	p.F13F	PTAFR_uc021ojz.1_Silent_p.F13F|PTAFR_uc001bpl.3_Silent_p.F13F|PTAFR_uc001bpm.4_Silent_p.F13F|PTAFR_uc021oka.1_Silent_p.F13F	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	13					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTGTATCGGAACTCAGAGT	0.527													A	28477494	G	A	28477494	2	1	243	1	0	0	0	0	0	0	0	1	12723	1165	41	3		3	PTAFR	1	28477494	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	4012399	28477494	220773127	2	16921											
GLIS1	148979	broad.mit.edu	37	1	53995480	53995480	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:53995480C>T	uc001cvr.1	-	3	1508	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	314					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TAGGTGGGTGCGCTGGTGCTT	0.657													T	53995480	C	T	53995480	3	4	243	1	0	0	0	0	1	0	0	0	6445	768	27	1	949	1	GLIS1	1	53995480	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	25517986	53995480	195255141	3	16922											
ADAM30	11085	broad.mit.edu	37	1	120437661	120437661	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:120437661C>A	uc001eij.3	-	0	1487	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	433	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CACCTGGTTGCAACTTACAAT	0.453													A	120437661	C	A	120437661	3	1	243	1	0	0	0	0	1	0	0	0	248	709	25	5	1077	5	ADAM30	1	120437661	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	66442181	120437661	128812960	4	16923											
SEMA4A	64218	broad.mit.edu	37	1	156126258	156126258	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:156126258G>C	uc001fnl.3	+	2	372	c.193G>C	c.(193-195)Gac>Cac	p.D65H	SEMA4A_uc009wrq.3_Missense_Mutation_p.D65H|SEMA4A_uc001fnm.3_Missense_Mutation_p.D65H|SEMA4A_uc001fnn.3_5'UTR|SEMA4A_uc001fno.3_Missense_Mutation_p.D65H	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	65	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGATTTTGACACTCTGCT	0.542													C	156126258	G	C	156126258	3	2	243	1	0	0	0	0	1	0	0	0	14031	1290	45	5	199	5	SEMA4A	1	156126258	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	35688597	156126258	93124363	5	16924											
ILDR2	387597	broad.mit.edu	37	1	166888604	166888604	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:166888604G>A	uc001gdx.2	-	9	1964	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	636						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGACCACAAGGGACATCCTGG	0.438													A	166888604	G	A	166888604	2	1	243	1	0	0	0	0	0	0	0	1	7710	1219	43	3		3	ILDR2	1	166888604	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	10762346	166888604	82362017	6	16925											
PTPRC	5788	broad.mit.edu	37	1	198676014	198676014	+	Silent	SNP	G	G	A	rs137909392	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:198676014G>A	uc001gur.1	+	8	1011	c.831G>A	c.(829-831)gcG>gcA	p.A277A	PTPRC_uc001gut.1_Silent_p.A116A|PTPRC_uc009wzf.1_Silent_p.A165A|PTPRC_uc021pgy.1_Silent_p.A231A|PTPRC_uc010ppg.1_Silent_p.A213A	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	277					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			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						GTAAAAATGCGTCTGTTTCCA	0.299													A	198676014	G	A	198676014	2	1	243	1	0	0	0	0	0	0	0	1	12797	1132	40	1		1	PTPRC	1	198676014	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	31787410	198676014	50574607	7	16926											
OR13G1	441933	broad.mit.edu	37	1	247835982	247835982	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:247835982A>C	uc001idi.1	-	0	362	c.362T>G	c.(361-363)gTg>gGg	p.V121G		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			ACAAATGGCCACATAGCGGTC	0.478													C	247835982	A	C	247835982	3	2	243	1	0	0	0	0	1	0	0	0	10942	159	6	5	565	5	OR13G1	1	247835982	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	49159968	247835982	1414639	8	16927											
ITSN2	50618	broad.mit.edu	37	2	24435600	24435600	+	Silent	SNP	C	C	T	rs146758206	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:24435600C>T	uc002rfe.2	-	32	4266	c.4008G>A	c.(4006-4008)ccG>ccA	p.P1336P	ITSN2_uc002rff.2_Silent_p.P1309P	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1336	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.P1335P(2)|p.R1336R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTACACCGCGGGTCAGATG	0.542													T	24435600	C	T	24435600	2	4	243	1	0	0	0	0	0	0	0	1	7927	755	27	1		1	ITSN2	2	24435600	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		24435600	218763773	9	16928											
ST6GAL2	84620	broad.mit.edu	37	2	107450522	107450522	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:107450522G>A	uc002tdq.3	-	2	1143	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R342C|ST6GAL2_uc002tds.3_Missense_Mutation_p.R342C	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	342					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R342C(2)|p.I341V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTAATGATGCGTATGGTGGTT	0.393													A	107450522	G	A	107450522	3	1	243	1	0	0	0	0	1	0	0	0	15221	1145	40	1	668	1	ST6GAL2	2	107450522	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	83014922	107450522	135748851	10	16929											
GALNT13	114805	broad.mit.edu	37	2	155099239	155099239	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:155099239C>T	uc002tyt.4	+	3	611	c.507C>T	c.(505-507)taC>taT	p.Y169Y	GALNT13_uc002tyr.4_Silent_p.Y169Y|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	169	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Y169Y(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAGAGAATTACGTGAAAAATT	0.353													T	155099239	C	T	155099239	2	4	243	1	0	0	0	0	0	0	0	1	6211	547	19	1		1	GALNT13	2	155099239	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	47648717	155099239	88100134	11	16930											
XIRP2	129446	broad.mit.edu	37	2	168105145	168105145	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:168105145A>G	uc002udx.3	+	8	7332	c.7243A>G	c.(7243-7245)Aaa>Gaa	p.K2415E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K2240E|XIRP2_uc010fpq.3_Missense_Mutation_p.K2193E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2240					actin cytoskeleton organization	cell junction	actin binding			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						CATAACAGGAAAAACCGGTGT	0.438													G	168105145	A	G	168105145	3	3	243	1	0	0	0	0	1	0	0	0	17427	15	1	4	7273	4	XIRP2	2	168105145	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	13005906	168105145	75094228	12	16931											
TTN	7273	broad.mit.edu	37	2	179398164	179398164	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:179398164G>A	uc021vsy.1	-	306	95699	c.95474C>T	c.(95473-95475)aCa>aTa	p.T31825I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T25520I|TTN_uc021vta.1_Missense_Mutation_p.T25453I|TTN_uc021vtb.1_Missense_Mutation_p.T25328I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32752	Fibronectin type-III 131.						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)			CCATTTTAATGTTGGTGGGGG	0.463													A	179398164	G	A	179398164	3	1	243	1	0	0	0	0	1	0	0	0	16732	1377	48	3	4821	3	TTN	2	179398164	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	11293019	179398164	63801209	13	16932											
FBLN2	2199	broad.mit.edu	37	3	13659763	13659763	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:13659763C>T	uc011avc.2	+	5	2299	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	FBLN2_uc011auz.2_Silent_p.D665D|FBLN2_uc011avb.2_Silent_p.D639D|FBLN2_uc011ava.2_Silent_p.D639D	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	639	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CACTGCAGGACGATGGCCGCA	0.612													T	13659763	C	T	13659763	2	4	243	1	0	0	0	0	0	0	0	1	5699	535	19	1		1	FBLN2	3	13659763	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		13659763	184362667	14	16933											
SCN10A	6336	broad.mit.edu	37	3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:38812783C>T	uc003ciq.3	-	3	586	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	196					sensory perception	voltage-gated sodium channel complex		p.V196I(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGGTAATGACGCTAAAATCC	0.458													T	38812783	C	T	38812783	3	4	243	1	0	0	0	0	1	0	0	0	13912	536	19	1	5380	1	SCN10A	3	38812783	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	25153020	38812783	159209647	15	16934											
GPX1	2876	broad.mit.edu	37	3	49395545	49395545	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:49395545T>G	uc021wxw.1	-	0	247	c.167A>C	c.(166-168)tAc>tCc	p.Y56S	GPX1_uc021wxx.1_Missense_Mutation_p.Y56S	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	56					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CATCTGGGTGTAGTCCCGGAC	0.692													G	49395545	T	G	49395545	3	3	243	1	0	0	0	0	1	0	0	0	6739	1638	57	5	497	5	GPX1	3	49395545	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	10582762	49395545	148626885	16	16935											
KIAA1407	57577	broad.mit.edu	37	3	113684122	113684122	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:113684122C>T	uc003eax.3	-	16	2838	c.2691G>A	c.(2689-2691)caG>caA	p.Q897Q		NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	897										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TACGAAGTTGCTGTCGCCTTT	0.408													T	113684122	C	T	113684122	2	4	243	1	0	0	0	0	0	0	0	1	8229	796	28	3		3	KIAA1407	3	113684122	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	64288577	113684122	84338308	17	16936											
RAB43	339122	broad.mit.edu	37	3	128813923	128813923	+	Silent	SNP	G	G	A	rs145101068		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:128813923G>A	uc003eln.2	-	1	609	c.294C>T	c.(292-294)taC>taT	p.Y98Y	ISY1-RAB43_uc003elo.2_Missense_Mutation_p.T314M|RAB43_uc021xdo.1_Nonsense_Mutation_p.R94*|RAB43_uc010hsy.2_Silent_p.Y98Y|RAB43_uc021xdp.1_Silent_p.Y98Y|RAB43_uc021xdq.1_Silent_p.Y98Y|RAB43_uc021xdr.1_Silent_p.Y98Y|RAB43_uc021xds.1_Silent_p.Y98Y	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN	Homo sapiens RAB43, member RAS oncogene family (RAB43), transcript variant 1, mRNA.	98					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						TGGTGATGTCGTAGGCAAGGA	0.572													A	128813923	G	A	128813923	2	1	243	1	0	0	0	0	0	0	0	1	12945	1140	40	1		1	RAB43	3	128813923	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	15129801	128813923	69208507	18	16937											
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	243	1	0	0	0	0	1	0	0	0	11913	217	8	4	3218	4	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	50138162	178952085	19070345	19	16938											
SPON2	10417	broad.mit.edu	37	4	1161329	1161329	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:1161329G>A	uc003gco.4	-	5	1256	c.927C>T	c.(925-927)ccC>ccT	p.P309P	SPON2_uc021xkj.1_Silent_p.P309P|SPON2_uc010ibr.3_Silent_p.P309P|SPON2_uc003gcm.1_3'UTR	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	309	TSP type-1.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGTTGTTGGCGGGCTGGACCC	0.682											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1161329	G	A	1161329	2	1	243	1	0	0	0	0	0	0	0	1	15082	1103	39	2		2	SPON2	4	1161329	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		1161329	189992947	20	16939											
HS3ST1	9957	broad.mit.edu	37	4	11401289	11401289	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:11401289T>C	uc003gmq.3	-	1	664	c.341A>G	c.(340-342)cAg>cGg	p.Q114R	HS3ST1_uc021xmg.1_Missense_Mutation_p.Q114R	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	114						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CACTGTGAGCTGGTGTGGCCA	0.617													C	11401289	T	C	11401289	3	2	243	1	0	0	0	0	1	0	0	0	7363	1580	55	4	586	4	HS3ST1	4	11401289	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	10239960	11401289	179752987	21	16940											
GRSF1	2926	broad.mit.edu	37	4	71691907	71691907	+	Silent	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:71691907C>A	uc010iia.1	-	6	1274	c.1191G>T	c.(1189-1191)acG>acT	p.T397T	GRSF1_uc011caz.1_Silent_p.T279T|GRSF1_uc003hfs.2_Silent_p.T235T	NM_002092	NP_001091947	Q12849	GRSF1_HUMAN	Homo sapiens G-rich RNA sequence binding factor 1 (GRSF1), transcript variant 1, mRNA.	397					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCAGAGAAGACGTAGTTCCAA	0.423													A	71691907	C	A	71691907	2	1	243	1	0	0	0	0	0	0	0	1	6809	523	19	5		5	GRSF1	4	71691907	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	60290618	71691907	119462369	22	16941											
TET2	54790	broad.mit.edu	37	4	106155901	106155901	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:106155901T>G	uc011cez.2	+	2	1270	c.865T>G	c.(865-867)Tcg>Gcg	p.S289A	TET2_uc003hxk.3_Missense_Mutation_p.S268A|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.S268A|TET2_uc010ilp.2_Missense_Mutation_p.S268A|TET2_uc021xql.1_Missense_Mutation_p.S268A	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	268					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A289fs*4(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACTCACCCATCGCATACCTC	0.498			"Mis N, F"		MDS								G	106155901	T	G	106155901	3	3	243	1	0	0	0	0	1	0	0	0	15767	1435	50	5	804	5	TET2	4	106155901	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	34463994	106155901	84998375	23	16942											
ACSL1	2180	broad.mit.edu	37	4	185681554	185681554	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:185681554C>G	uc003iww.2	-	17	2033	c.1739G>C	c.(1738-1740)aGt>aCt	p.S580T	ACSL1_uc011ckm.1_Missense_Mutation_p.S409T|ACSL1_uc003iwt.1_Missense_Mutation_p.S580T|ACSL1_uc003iwu.1_Missense_Mutation_p.S580T|ACSL1_uc011ckn.1_Missense_Mutation_p.S546T|ACSL1_uc003iws.1_Missense_Mutation_p.S140T	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	580					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AACAGGCTCACTTCGCATGTA	0.443													G	185681554	C	G	185681554	3	3	243	1	0	0	0	0	1	0	0	0	177	565	20	5	373	5	ACSL1	4	185681554	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	79525653	185681554	5472722	24	16943											
SLC30A5	64924	broad.mit.edu	37	5	68411085	68411085	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:68411085C>G	uc003jvh.3	+	7	941	c.634C>G	c.(634-636)Ctg>Gtg	p.L212V	SLC30A5_uc003jvj.3_5'Flank|SLC30A5_uc003jvk.3_5'Flank|SLC30A5_uc003jvi.3_Missense_Mutation_p.L41V	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	212					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATTGCTAGTACTGGCTTTGTG	0.373													G	68411085	C	G	68411085	3	3	243	1	0	0	0	0	1	0	0	0	14558	564	20	5	752	5	SLC30A5	5	68411085	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		68411085	112504175	25	16944											
PCDHAC2	56145	broad.mit.edu	37	5	140180868	140180868	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:140180868G>A	uc003lhf.2	+	0	86	c.86G>A	c.(85-87)gGc>gAc	p.G29D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G29D	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	42					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGAGCGGCCAGCTCCAC	0.637													A	140180868	G	A	140180868	3	1	243	1	0	0	0	0	1	0	0	0	11533	1203	42	3		3	PCDHAC2	5	140180868	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	71769783	140180868	40734392	26	16945											
PCDHGC5	56113	broad.mit.edu	37	5	140720212	140720212	+	Silent	SNP	C	C	T	rs150000282	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:140720212C>T	uc003ljk.2	+	0	1859	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.N558N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	560	Cadherin 5.				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)			AGAACGACAACGCGCCCGAGA	0.622													T	140720212	C	T	140720212	2	4	243	1	0	0	0	0	0	0	0	1	11571	535	19	1		1	PCDHGC5	5	140720212	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	539344	140720212	40195048	27	16946											
TRIM26	7726	broad.mit.edu	37	6	30153775	30153775	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:30153775C>A	uc003npr.3	-	8	1707	c.1498G>T	c.(1498-1500)Gtg>Ttg	p.V500L	TRIM26_uc003nps.3_Missense_Mutation_p.V500L|TRIM26_uc003npt.3_Missense_Mutation_p.V500L|TRIM26_uc010jry.3_Missense_Mutation_p.V230L	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	500	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GTGAAAGTCACGGTGCCCCCT	0.627													A	30153775	C	A	30153775	3	1	243	1	0	0	0	0	1	0	0	0	16497	536	19	5	125	5	TRIM26	6	30153775	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		30153775	140961292	28	16947											
HLA-DPA1	3113	broad.mit.edu	37	6	33036842	33036842	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:33036842G>A	uc003ocs.2	-	2	689	c.582C>T	c.(580-582)tgC>tgT	p.C194C	HLA-DPA1_uc021ywg.1_Silent_p.C194C|HLA-DPA1_uc021ywh.1_Silent_p.C194C|HLA-DPA1_uc010juk.3_Silent_p.C194C	NM_033554	NP_291032	P20036	DPA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.	194	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GCTCCACCCTGCAGTCATAGA	0.537													A	33036842	G	A	33036842	2	1	243	1	0	0	0	0	0	0	0	1	7202	1311	46	3		3	HLA-DPA1	6	33036842	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	2883067	33036842	138078225	29	16948											
FAM83B	222584	broad.mit.edu	37	6	54805390	54805390	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:54805390C>T	uc003pck.3	+	4	1737	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	541				R -> S (in Ref. 4; BAB70873).				p.R541L(2)		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)					TTCTCGGCTTCGTTCCTCTTT	0.418													T	54805390	C	T	54805390	3	4	243	1	0	0	0	0	1	0	0	0	5634	884	31	2	1635	2	FAM83B	6	54805390	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	21768548	54805390	116309677	30	16949											
PRIM2	5558	broad.mit.edu	37	6	57498985	57498985	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:57498985G>C	uc003pdx.3	+	13	1333	c.1246G>C	c.(1246-1248)Ggg>Cgg	p.G416R		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	417					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTAGTAAAGGGGACACATTA	0.299													C	57498985	G	C	57498985	3	2	243	1	0	0	0	0	1	0	0	0	12491	1232	43	5	1295	5	PRIM2	6	57498985	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	2693595	57498985	113616082	31	16950											
AHR	196	broad.mit.edu	37	7	17375305	17375305	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:17375305G>A	uc011jxz.1	+	8	1668	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	352	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATAGTTTTCCGGCTTCTTACA	0.333													A	17375305	G	A	17375305	3	1	243	1	0	0	0	0	1	0	0	0	416	1116	39	2	1089	2	AHR	7	17375305	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08		17375305	141763358	32	16951											
AOAH	313	broad.mit.edu	37	7	36571798	36571798	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:36571798G>A	uc022abu.1	-	17	1781	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_uc003tfh.4_Silent_p.H460H|AOAH_uc011kba.2_Silent_p.H428H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	460					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H460H(4)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512													A	36571798	G	A	36571798	2	1	243	1	0	0	0	0	0	0	0	1	726	1136	40	1		1	AOAH	7	36571798	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	19196493	36571798	122566865	33	16952											
SMO	6608	broad.mit.edu	37	7	128843306	128843306	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:128843306G>A	uc003vor.3	+	1	693	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	138	FZ.				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAGAATGACCGGGTGGAGCTG	0.672			Mis		skin basal cell								A	128843306	G	A	128843306	3	1	243	1	0	0	0	0	1	0	0	0	14800	1116	39	2	419	2	SMO	7	128843306	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	92271508	128843306	30295357	34	16953											
KEL	3792	broad.mit.edu	37	7	142639595	142639595	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:142639595G>A	uc003wcb.3	-	17	2173	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	655					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R655W(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCATGGTGCCGTAACAGCCTC	0.597													A	142639595	G	A	142639595	3	1	243	1	0	0	0	0	1	0	0	0	8142	1144	40	1	243	1	KEL	7	142639595	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	13796289	142639595	16499068	35	16954											
AGAP3	116988	broad.mit.edu	37	7	150835302	150835302	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:150835302C>T	uc003wjg.1	+	11	1571	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	487	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGGGCTGGCCCGCGCCCTGAG	0.716													T	150835302	C	T	150835302	3	4	243	1	0	0	0	0	1	0	0	0	369	652	23	2	1681	2	AGAP3	7	150835302	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	8195707	150835302	8303361	36	16955											
NUB1	51667	broad.mit.edu	37	7	151065966	151065966	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:151065966G>A	uc003wjx.3	+	10	1329	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	NUB1_uc003wjw.3_Missense_Mutation_p.R414H|AK055458_uc003wjz.1_5'Flank	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	414	NEDD8-binding 1.|UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATTACCAACCGCAGAGAGGTA	0.483													A	151065966	G	A	151065966	3	1	243	1	0	0	0	0	1	0	0	0	10714	1087	38	1	1279	1	NUB1	7	151065966	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	230664	151065966	8072697	37	16956											
CTSB	1508	broad.mit.edu	37	8	11706616	11706616	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr8:11706616C>T	uc003wuq.3	-	4	547	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	CTSB_uc003wul.3_5'Flank|CTSB_uc010lsc.3_Intron|CTSB_uc011kxl.2_Missense_Mutation_p.V50I|CTSB_uc003wum.3_Missense_Mutation_p.V129I|CTSB_uc003wun.3_Missense_Mutation_p.V129I|CTSB_uc003wuo.3_Missense_Mutation_p.V129I|CTSB_uc003wup.3_Missense_Mutation_p.V129I|CTSB_uc003wuu.3_5'UTR	NM_001908	NP_680093	P07858	CATB_HUMAN	Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.	129					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		TCCACGCTGACGTGCGCATTG	0.642													T	11706616	C	T	11706616	3	4	243	1	0	0	0	0	1	0	0	0	4030	536	19	1	658	1	CTSB	8	11706616	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		11706616	134657406	38	16957											
FAM92A1	137392	broad.mit.edu	37	8	94713461	94713461	+	Silent	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr8:94713461A>G	uc022ayd.1	+	1	139	c.36A>G	c.(34-36)caA>caG	p.Q12Q	LINC00535_uc022ayb.1_5'Flank|FAM92A1_uc003yfu.1_Non-coding_Transcript|FAM92A1_uc022ayc.1_Silent_p.Q12Q	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	Homo sapiens family with sequence similarity 92, member A1 (FAM92A1), mRNA.	12										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAACGCTCAAACGAAACAAC	0.453													G	94713461	A	G	94713461	2	3	243	1	0	0	0	0	0	0	0	1	5652	11	1	4		4	FAM92A1	8	94713461	Silent	SNP	A	TCGA-41-2572-01A-01D-1353-08	83006845	94713461	51650561	39	16958											
PIGO	84720	broad.mit.edu	37	9	35092240	35092240	+	Silent	SNP	G	G	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr9:35092240G>T	uc003zwd.3	-	6	2040	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Silent_p.P111P	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	548					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.G547E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTAACAGGACGGGCCCAGGGA	0.577													T	35092240	G	T	35092240	2	4	243	1	0	0	0	0	0	0	0	1	11894	1103	39	5		5	PIGO	9	35092240	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		35092240	106121191	40	16959											
RUSC2	9853	broad.mit.edu	37	9	35561054	35561054	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr9:35561054C>G	uc003zww.3	+	10	4564	c.4309C>G	c.(4309-4311)Cag>Gag	p.Q1437E	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.Q1437E	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1437						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGAGCCTGCAGGAGCCACA	0.657													G	35561054	C	G	35561054	3	3	243	1	0	0	0	0	1	0	0	0	13751	711	25	5	4347	5	RUSC2	9	35561054	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	468814	35561054	105652377	41	16960											
PHRF1	57661	broad.mit.edu	37	11	607162	607162	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:607162C>A	uc001lqe.3	+	13	1837	c.1706C>A	c.(1705-1707)cCg>cAg	p.P569Q	PHRF1_uc010qwc.2_Missense_Mutation_p.P568Q|PHRF1_uc010qwd.2_Missense_Mutation_p.P567Q|PHRF1_uc010qwe.2_Missense_Mutation_p.P565Q|PHRF1_uc009ybz.1_Missense_Mutation_p.P359Q|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	569							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCGGGAGCCCGGCCCAAGGC	0.662													A	607162	C	A	607162	3	1	243	1	0	0	0	0	1	0	0	0	11861	652	23	5	1753	5	PHRF1	11	607162	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		607162	134399354	42	16961											
SLC3A2	6520	broad.mit.edu	37	11	62623803	62623803	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:62623803G>T	uc001nwd.3	+	0	320	c.62G>T	c.(61-63)gGc>gTc	p.G21V	SLC3A2_uc001nwc.3_Missense_Mutation_p.G21V|SLC3A2_uc001nwf.3_Missense_Mutation_p.G21V|SNHG1_uc001nvr.3_5'Flank|SNHG1_uc001nvs.3_5'Flank|SNHG1_uc001nvt.3_5'Flank|SNHG1_uc001nvu.3_5'Flank|SNHG1_uc009yoj.1_5'Flank|SNORD30_uc001nvw.1_5'Flank|SNHG1_uc001nvx.2_5'Flank|SNORD22_uc021qkn.1_5'Flank|SNORD28_uc001nvy.1_5'Flank|SNHG1_uc001nvz.2_5'Flank|SNHG1_uc009yok.1_5'Flank|SNHG1_uc001nwa.4_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	21					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.G21V(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAGTTGCCTGGCTCACATTCG	0.647													T	62623803	G	T	62623803	3	4	243	1	0	0	0	0	1	0	0	0	14627	1203	42	5	64	5	SLC3A2	11	62623803	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	62016641	62623803	72382713	43	16962											
P2RY2	5029	broad.mit.edu	37	11	72945627	72945627	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:72945627C>T	uc021qna.1	+	0	423	c.423C>T	c.(421-423)tcC>tcT	p.S141S	P2RY2_uc001otk.3_Silent_p.S141S|P2RY2_uc001otj.3_Silent_p.S141S|P2RY2_uc001otl.3_Silent_p.S141S	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	141					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CTCTGCGCTCCCTGCGCTGGG	0.662													T	72945627	C	T	72945627	2	4	243	1	0	0	0	0	0	0	0	1	11352	610	22	3		3	P2RY2	11	72945627	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	10321824	72945627	62060889	44	16963											
SNX19	399979	broad.mit.edu	37	11	130781567	130781567	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:130781567G>T	uc001qgk.4	-	1	2322	c.1774C>A	c.(1774-1776)Cgt>Agt	p.R592S	SNX19_uc010sce.2_5'UTR|SNX19_uc010scf.2_Missense_Mutation_p.R35S|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.R592S|SNX19_uc009zcx.1_Non-coding_Transcript	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	592	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	p.R592S(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCTCCAGACGGGTCTGCAGA	0.557													T	130781567	G	T	130781567	3	4	243	1	0	0	0	0	1	0	0	0	14890	1116	39	5	1244	5	SNX19	11	130781567	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	57835940	130781567	4224949	45	16964											
WNT5B	81029	broad.mit.edu	37	12	1749108	1749108	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:1749108T>C	uc009zdq.3	+	3	829	c.587T>C	c.(586-588)cTc>cCc	p.L196P	WNT5B_uc001qjj.3_Missense_Mutation_p.L196P|WNT5B_uc001qjk.3_Missense_Mutation_p.L196P|WNT5B_uc001qjl.3_Missense_Mutation_p.L196P	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	196					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GGCCGGGTGCTCATGAACCTG	0.632													C	1749108	T	C	1749108	3	2	243	1	0	0	0	0	1	0	0	0	17389	1551	54	4	597	4	WNT5B	12	1749108	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08		1749108	132102787	46	16965											
FGD4	121512	broad.mit.edu	37	12	32791721	32791722	+	Frame_Shift_Ins	INS	-	-	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:32791721_32791722insC	uc010ske.2	+	15	2455_2456	c.2371_2372insC	c.(2371-2373)gccfs	p.A791fs	FGD4_uc001rlc.3_Frame_Shift_Ins_p.A764fs|FGD4_uc001rky.3_Frame_Shift_Ins_p.A431fs|FGD4_uc001rkz.3_Frame_Shift_Ins_p.A679fs|FGD4_uc001rla.3_Frame_Shift_Ins_p.A335fs|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	679					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A679V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CATGTATGGTGCCCCCCAGGTA	0.505													C	32791722	-	C	32791721	7	5	243	1	0	1	1	0	0	0	0	0	5835	1319	46	0	2089	0	FGD4	12	32791721	Frame_Shift_Ins	INS	-	TCGA-41-2572-01A-01D-1353-08	31042613	32791721	101060174	47	16966											
OR8S1	341568	broad.mit.edu	37	12	48921845	48921845	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:48921845G>A	uc010slu.2	+	1	1039	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	347					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGGGGCCTGCGCATGCTCCGC	0.662													A	48921845	G	A	48921845	3	1	243	1	0	0	0	0	1	0	0	0	11246	1087	38	1	1045	1	OR8S1	12	48921845	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	16130124	48921845	84930050	48	16967											
SCYL2	55681	broad.mit.edu	37	12	100717360	100717360	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:100717360A>C	uc001thn.3	+	10	1503	c.1453A>C	c.(1453-1455)Aaa>Caa	p.K485Q	SCYL2_uc009ztw.1_Missense_Mutation_p.K312Q|SCYL2_uc001thm.1_Missense_Mutation_p.K485Q	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	485					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CCCATCCATGAAAAACGCTTT	0.318													C	100717360	A	C	100717360	3	2	243	1	0	0	0	0	1	0	0	0	13948	247	9	5	1491	5	SCYL2	12	100717360	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	51795515	100717360	33134535	49	16968											
ANO4	121601	broad.mit.edu	37	12	101520784	101520784	+	Missense_Mutation	SNP	G	G	A	rs143188971	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:101520784G>A	uc010svm.1	+	26	3376	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	ANO4_uc001thw.2_Missense_Mutation_p.R900H|ANO4_uc001thx.2_Missense_Mutation_p.R935H|ANO4_uc001thy.2_Missense_Mutation_p.R455H	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	935						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACTGGAACGTCTCCAGAAG	0.483										HNSCC(74;0.22)			A	101520784	G	A	101520784	3	1	243	1	0	0	0	0	1	0	0	0	699	1145	40	1	2797	1	ANO4	12	101520784	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	803424	101520784	32331111	50	16969											
RYR3	6263	broad.mit.edu	37	15	33916210	33916210	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr15:33916210G>A	uc001zhi.3	+	19	2630	c.2560G>A	c.(2560-2562)Gta>Ata	p.V854I	RYR3_uc010bar.3_Missense_Mutation_p.V854I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	854	4 X approximate repeats.				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)		CCCATGCCCCGTAGACACCAG	0.433													A	33916210	G	A	33916210	3	1	243	1	0	0	0	0	1	0	0	0	13770	1145	40	1	2638	1	RYR3	15	33916210	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08		33916210	68615182	51	16970											
ACAN	176	broad.mit.edu	37	15	89389067	89389067	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr15:89389067C>T	uc010upo.1	+	6	1757	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	ACAN_uc002bmx.3_Silent_p.L461L|ACAN_uc010upp.1_Silent_p.L461L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	461					cell adhesion		hyaluronic acid binding|sugar binding			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)			GTGAGGACCTCGTCGTGCAGG	0.652													T	89389067	C	T	89389067	2	4	243	1	0	0	0	0	0	0	0	1	117	871	31	2		2	ACAN	15	89389067	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	55472857	89389067	13142325	52	16971											
MVP	9961	broad.mit.edu	37	16	29858658	29858658	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:29858658A>G	uc002dui.3	+	13	2558	c.2406A>G	c.(2404-2406)atA>atG	p.I802M	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.I802M|MVP_uc010vea.2_Missense_Mutation_p.I396M	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	802					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CAGAGGCCATAGGCCCCAGCA	0.582													G	29858658	A	G	29858658	3	3	243	1	0	0	0	0	1	0	0	0	9996	410	15	4	2456	4	MVP	16	29858658	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08		29858658	60496095	53	16972											
ATP6V0D1	9114	broad.mit.edu	37	16	67477041	67477041	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:67477041G>A	uc010vjo.1	-	4	745	c.645C>T	c.(643-645)gaC>gaT	p.D215D	ATP6V0D1_uc002ete.1_Silent_p.D174D|ATP6V0D1_uc010vjn.1_Silent_p.D97D	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	174					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGTTCATCTCGTCAAGGTCCT	0.567													A	67477041	G	A	67477041	2	1	243	1	0	0	0	0	0	0	0	1	1173	1136	40	1		1	ATP6V0D1	16	67477041	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	37618383	67477041	22877712	54	16973											
HYDIN	54768	broad.mit.edu	37	16	70908762	70908762	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:70908762C>T	uc002ezr.3	-	62	10766	c.10615G>A	c.(10615-10617)Gcg>Acg	p.A3539T		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3540										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TAGATATACGCGGTGGTGGGC	0.507													T	70908762	C	T	70908762	3	4	243	1	0	0	0	0	1	0	0	0	7467	768	27	1	4843	1	HYDIN	16	70908762	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	3431721	70908762	19445991	55	16974											
RABEP1	9135	broad.mit.edu	37	17	5235422	5235422	+	Silent	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:5235422T>G	uc002gbm.4	+	2	566	c.342T>G	c.(340-342)gtT>gtG	p.V114V	RABEP1_uc010clc.1_Silent_p.V114V|RABEP1_uc010cld.1_Silent_p.V71V|RABEP1_uc010vsw.1_Silent_p.V71V|RABEP1_uc002gbl.4_Silent_p.V114V|RABEP1_uc002gbj.3_Silent_p.V114V|RABEP1_uc002gbk.2_Silent_p.V114V	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	114					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAGAAGAAGTTGCTTCACTTC	0.378													G	5235422	T	G	5235422	2	3	243	1	0	0	0	0	0	0	0	1	12961	1799	63	5		5	RABEP1	17	5235422	Silent	SNP	T	TCGA-41-2572-01A-01D-1353-08		5235422	75959788	56	16975											
MYH4	4622	broad.mit.edu	37	17	10358985	10358985	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:10358985C>A	uc002gmn.3	-	18	2231	c.2120G>T	c.(2119-2121)cGc>cTc	p.R707L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	707	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTGCAGATGCGGATGCCTTC	0.468													A	10358985	C	A	10358985	3	1	243	1	0	0	0	0	1	0	0	0	10037	768	27	5	3787	5	MYH4	17	10358985	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	5123563	10358985	70836225	57	16976											
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:10408543C>T	uc002gmo.3	-	20	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458													T	10408543	C	T	10408543	3	4	243	1	0	0	0	0	1	0	0	0	10029	884	31	2	3527	2	MYH1	17	10408543	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	49558	10408543	70786667	58	16977											
USP22	23326	broad.mit.edu	37	17	20931977	20931977	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:20931977C>T	uc002gym.4	-	1	386	c.182G>A	c.(181-183)tGt>tAt	p.C61Y	USP22_uc002gyn.4_Missense_Mutation_p.C49Y|USP22_uc002gyl.4_5'UTR	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	61					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ATGGCAGATACAGGACTTGGC	0.517													T	20931977	C	T	20931977	3	4	243	1	0	0	0	0	1	0	0	0	17051	478	17	3	1443	3	USP22	17	20931977	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	10523434	20931977	60263233	59	16978											
C17orf70	80233	broad.mit.edu	37	17	79517665	79517665	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:79517665T>C	uc002kaq.3	-	2	928	c.855A>G	c.(853-855)atA>atG	p.I285M	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.I134M	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	285					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCAAGGCCCCTATGAAGATGA	0.577													C	79517665	T	C	79517665	3	2	243	1	0	0	0	0	1	0	0	0	1877	1512	53	4	1818	4	C17orf70	17	79517665	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	58585688	79517665	1677545	60	16979											
LAMA1	284217	broad.mit.edu	37	18	7034562	7034562	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:7034562C>T	uc002knm.3	-	13	2061	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	LAMA1_uc010wzj.2_Missense_Mutation_p.R132H	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	656	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.R656H(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTGGTCACGATCAATCTG	0.423													T	7034562	C	T	7034562	3	4	243	1	0	0	0	0	1	0	0	0	8605	536	19	1	7460	1	LAMA1	18	7034562	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		7034562	71042686	61	16980											
SERPINB7	8710	broad.mit.edu	37	18	61465969	61465969	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:61465969A>G	uc002ljl.3	+	5	682	c.586A>G	c.(586-588)Aaa>Gaa	p.K196E	SERPINB7_uc002ljm.3_Missense_Mutation_p.K196E|SERPINB7_uc010xet.2_Missense_Mutation_p.K179E|SERPINB7_uc010dqg.3_Missense_Mutation_p.K196E	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	196					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTGCCATTTCAAATCTCCCAA	0.403													G	61465969	A	G	61465969	3	3	243	1	0	0	0	0	1	0	0	0	14106	131	5	4	604	4	SERPINB7	18	61465969	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	54431407	61465969	16611279	62	16981											
PALM	5064	broad.mit.edu	37	19	746493	746493	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:746493C>T	uc002lpm.1	+	8	1037	c.843C>T	c.(841-843)ggC>ggT	p.G281G	PALM_uc002lpn.1_Silent_p.G237G|PALM_uc010xfu.1_Silent_p.G146G	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	281					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		CACAGCCAGGCGAGGCCACGT	0.726													T	746493	C	T	746493	2	4	243	1	0	0	0	0	0	0	0	1	11408	755	27	1		1	PALM	19	746493	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		746493	58382490	63	16982											
CD97	976	broad.mit.edu	37	19	14513618	14513618	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:14513618G>A	uc002myl.3	+	11	1773	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	CD97_uc002mym.3_Missense_Mutation_p.A416T|CD97_uc002myn.3_Missense_Mutation_p.A372T	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	465					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCCTTTTCGCCTTCTCCCA	0.567													A	14513618	G	A	14513618	3	1	243	1	0	0	0	0	1	0	0	0	3049	1087	38	1	1439	1	CD97	19	14513618	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	13767125	14513618	44615365	64	16983											
FAM32A	26017	broad.mit.edu	37	19	16301334	16301334	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:16301334A>G	uc002ndt.3	+	2	239	c.220A>G	c.(220-222)Atg>Gtg	p.M74V		NM_014077	NP_054796	Q9Y421	FA32A_HUMAN	Homo sapiens family with sequence similarity 32, member A (FAM32A), mRNA.	74	Lys-rich.					nucleolus				lung(1)	1						TCTCCAGCAAATGGAAAGGAT	0.562													G	16301334	A	G	16301334	3	3	243	1	0	0	0	0	1	0	0	0	5552	101	4	4	230	4	FAM32A	19	16301334	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	1787716	16301334	42827649	65	16984											
CD22	933	broad.mit.edu	37	19	35832290	35832290	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:35832290G>A	uc010edt.3	+	7	1636	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	CD22_uc010edu.3_Missense_Mutation_p.E430K|CD22_uc010edv.3_Missense_Mutation_p.E518K|CD22_uc002nzb.4_Missense_Mutation_p.E341K|CD22_uc010xst.2_Missense_Mutation_p.E346K|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	518	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GCCCCTTTCCGAGATTCACTC	0.572													A	35832290	G	A	35832290	3	1	243	1	0	0	0	0	1	0	0	0	2985	1059	37	2	1578	2	CD22	19	35832290	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	19530956	35832290	23296693	66	16985											
HKR1	284459	broad.mit.edu	37	19	37853831	37853831	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:37853831G>A	uc002ogb.3	+	5	1403	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	HKR1_uc002ofx.3_Silent_p.A94A|HKR1_uc002ofy.3_Silent_p.A94A|HKR1_uc002oga.3_Silent_p.A360A|HKR1_uc010xto.2_Silent_p.A360A|HKR1_uc002ogc.3_Silent_p.A359A|HKR1_uc010xtp.2_Silent_p.A317A|HKR1_uc002ogd.3_Silent_p.A317A	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	378					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGAGGGCGCACACTGGGG	0.532													A	37853831	G	A	37853831	2	1	243	1	0	0	0	0	0	0	0	1	7194	1074	38	1		1	HKR1	19	37853831	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	2021541	37853831	21275152	67	16986											
ACPT	93650	broad.mit.edu	37	19	51295361	51295361	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:51295361G>A	uc002pta.1	+	4	482	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	161						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGCTGTCCCCGATACCACGAG	0.692													A	51295361	G	A	51295361	3	1	243	1	0	0	0	0	1	0	0	0	168	1058	37	2	500	2	ACPT	19	51295361	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	13441530	51295361	7833622	68	16987											
BIRC8	112401	broad.mit.edu	37	19	53794413	53794413	+	Translation_Start_Site	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:53794413G>A	uc002qbk.3	-	0						NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.						apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CTTGTCCACCGTCTCGCGCCA	0.527													A	53794413	G	A	53794413	1	1	243	1	0	0	0	0	0	0	0	0	1440	1160	40	1		1	BIRC8	19	53794413	Translation_Start_Site	SNP	G	TCGA-41-2572-01A-01D-1353-08	2499052	53794413	5334570	69	16988											
LILRB2	10288	broad.mit.edu	37	19	54784355	54784355	+	Translation_Start_Site	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:54784355G>A	uc002qfb.3	-	1					LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_5'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_5'UTR|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.						cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTCATGGCGTCTCCTCCCA	0.592													A	54784355	G	A	54784355	1	1	243	1	0	0	0	0	0	0	0	0	8791	1160	40	1		1	LILRB2	19	54784355	Translation_Start_Site	SNP	G	TCGA-41-2572-01A-01D-1353-08	989942	54784355	4344628	70	16989											
HSPBP1	23640	broad.mit.edu	37	19	55776732	55776732	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:55776732C>T	uc002qkd.3	-	7	1253	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	HSPBP1_uc002qjx.3_Missense_Mutation_p.V353M|HSPBP1_uc002qkc.3_Missense_Mutation_p.V307M|X05128_uc002qke.3_5'Flank	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	310					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCGCGCACACCCTGCGGA	0.657													T	55776732	C	T	55776732	3	4	243	1	0	0	0	0	1	0	0	0	7426	478	17	3	168	3	HSPBP1	19	55776732	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	992377	55776732	3352251	71	16990											
HSPBP1	23640	broad.mit.edu	37	19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:55777302C>T	uc002qkd.3	-	6	1179	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_uc002qjx.3_Missense_Mutation_p.R328Q|HSPBP1_uc002qkc.3_Missense_Mutation_p.R282Q|X05128_uc002qke.3_5'Flank	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	285					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGCTCTGTCCGCACCAGGGC	0.687													T	55777302	C	T	55777302	3	4	243	1	0	0	0	0	1	0	0	0	7426	652	23	2	246	2	HSPBP1	19	55777302	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	570	55777302	3351681	72	16991											
ZSCAN1	284312	broad.mit.edu	37	19	58564905	58564905	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:58564905C>T	uc002qrc.1	+	5	960	c.713C>T	c.(712-714)cCc>cTc	p.P238L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	238					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATCTCGAGCCCCAAGGGTCCA	0.617													T	58564905	C	T	58564905	3	4	243	1	0	0	0	0	1	0	0	0	18223	623	22	3	727	3	ZSCAN1	19	58564905	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	2787603	58564905	564078	73	16992											
MYBL2	4605	broad.mit.edu	37	20	42331498	42331498	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr20:42331498G>A	uc002xlb.1	+	7	1535	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	MYBL2_uc010zwj.1_Silent_p.T416T	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	440						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAGCCTCACGCCCAAGAGCA	0.582													A	42331498	G	A	42331498	2	1	243	1	0	0	0	0	0	0	0	1	10010	1074	38	1		1	MYBL2	20	42331498	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		42331498	20694022	74	16993											
CCT8L2	150160	broad.mit.edu	37	22	17072504	17072504	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr22:17072504C>T	uc002zlp.1	-	0	1197	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	313					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.V313M(2)		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)				TGAATCACCACGATGCCATAC	0.557													T	17072504	C	T	17072504	3	4	243	1	0	0	0	0	1	0	0	0	2961	536	19	1	740	1	CCT8L2	22	17072504	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		17072504	34232062	75	16994											
P2RY8	286530	broad.mit.edu	37	X	1584669	1584669	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:1584669G>A	uc022brv.1	-	0	783	c.783C>T	c.(781-783)atC>atT	p.I261I	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.I261I	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	261						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I261I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				GGCGGCTCACGATGTGCGCCA	0.612			T	CRLF2	"B-ALL, Downs associated ALL"								A	1584669	G	A	1584669	2	1	243	1	0	0	0	0	0	0	0	1	11355	1048	37	2		2	P2RY8	23	1584669	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		1584669	153685891	76	16995											
GSPT2	23708	broad.mit.edu	37	X	51487887	51487887	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:51487887C>T	uc004dpl.3	+	0	1407	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	389					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TCACTTTATGCCCTGCTCAGG	0.393													T	51487887	C	T	51487887	3	4	243	1	0	0	0	0	1	0	0	0	6827	739	26	3	1167	3	GSPT2	23	51487887	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	49903218	51487887	103782673	77	16996											
PFKFB1	5207	broad.mit.edu	37	X	54986328	54986328	+	Splice_Site	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:54986328T>C	uc004dty.1	-	4	389	c.318_splice	c.e4-1	p.K106_splice	PFKFB1_uc010nkd.1_Splice_Site_p.K92_splice|PFKFB1_uc011mol.1_Splice_Site_p.K41_splice	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	106	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCGCACTGCCTGAAATAGACC	0.443													C	54986328	T	C	54986328	5	2	243	1	0	0	0	0	0	0	1	0	11760	1594	55	4	1143	4	PFKFB1	23	54986328	Splice_Site	SNP	T	TCGA-41-2572-01A-01D-1353-08	3498441	54986328	100284232	78	16997											
IL13RA2	3598	broad.mit.edu	37	X	114248418	114248418	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:114248418G>A	uc004epx.3	-	4	560	c.435C>T	c.(433-435)tgC>tgT	p.C145C	IL13RA2_uc010nqd.1_Silent_p.C145C|IL13RA2_uc022cdb.1_Silent_p.C145C	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	145	Fibronectin type-III 2.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGTAATATACGCAATCCATAT	0.328													A	114248418	G	A	114248418	2	1	243	1	0	0	0	0	0	0	0	1	7630	1079	38	1		1	IL13RA2	23	114248418	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	59262090	114248418	41022142	79	16998											
PRAMEF1	65121	broad.mit.edu	37	1	12854536	12854536	+	Missense_Mutation	SNP	C	C	T	rs1063777		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:12854536C>T	uc001auj.2	+	2	863	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	254								p.G253G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		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)		ACTCCAAGGACGGTTAGTTGC	0.438													T	12854536	C	T	12854536	3	4	244	1	0	0	0	0	1	0	0	0	12425	527	19	1	766	1	PRAMEF1	1	12854536	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		12854536	236396085	1	16999											
KIF17	57576	broad.mit.edu	37	1	21016727	21016727	+	Silent	SNP	A	A	G	rs143130602		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:21016727A>G	uc001bdr.4	-	6	1453	c.1335T>C	c.(1333-1335)taT>taC	p.Y445Y	KIF17_uc009vpx.3_Missense_Mutation_p.M1T|KIF17_uc001bds.4_Silent_p.Y445Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	445					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCCTGACGTCATATGAGTTGC	0.627													G	21016727	A	G	21016727	2	3	244	1	0	0	0	0	0	0	0	1	8279	224	8	4		4	KIF17	1	21016727	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08	8162191	21016727	228233894	2	17000											
SLC44A5	204962	broad.mit.edu	37	1	75708631	75708631	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:75708631T>A	uc010oqz.1	-	6	594	c.528A>T	c.(526-528)aaA>aaT	p.K176N	SLC44A5_uc001dgt.2_Missense_Mutation_p.K137N|SLC44A5_uc001dgs.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgr.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgu.3_Missense_Mutation_p.K137N|SLC44A5_uc010ora.2_Missense_Mutation_p.K131N|SLC44A5_uc010orb.2_Missense_Mutation_p.K7N	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	137						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGCTTTTGTCTTTTGTGTACA	0.393													A	75708631	T	A	75708631	3	1	244	1	0	0	0	0	1	0	0	0	14639	1606	56	5	1927	5	SLC44A5	1	75708631	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08	54691904	75708631	173541990	3	17001											
PLA2G4A	5321	broad.mit.edu	37	1	186863259	186863259	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:186863259G>A	uc001gsc.3	+	4	499	c.294G>A	c.(292-294)atG>atA	p.M98I	PLA2G4A_uc010pos.2_Missense_Mutation_p.M98I	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	98	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATTATGTCATGGATGAAACTC	0.338													A	186863259	G	A	186863259	3	1	244	1	0	0	0	0	1	0	0	0	12001	1348	47	3	308	3	PLA2G4A	1	186863259	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	111154628	186863259	62387362	4	17002											
RYR2	6262	broad.mit.edu	37	1	237632425	237632425	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:237632425C>G	uc001hyl.1	+	16	1766	c.1646C>G	c.(1645-1647)gCt>gGt	p.A549G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	549					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.Q548P(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)			AAAAACTGTGCTCAATTTTCT	0.373													G	237632425	C	G	237632425	3	3	244	1	0	0	0	0	1	0	0	0	13769	797	28	5	1712	5	RYR2	1	237632425	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	50769166	237632425	11618196	5	17003											
NBAS	51594	broad.mit.edu	37	2	15564456	15564456	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:15564456C>G	uc002rcc.1	-	22	2586	c.2560G>C	c.(2560-2562)Gag>Cag	p.E854Q	NBAS_uc010exl.1_Missense_Mutation_p.E46Q|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	854										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						GCATAATGCTCTATTTCCTCT	0.502													G	15564456	C	G	15564456	3	3	244	1	0	0	0	0	1	0	0	0	10186	922	32	5	4675	5	NBAS	2	15564456	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		15564456	227634917	6	17004											
XDH	7498	broad.mit.edu	37	2	31588885	31588885	+	Missense_Mutation	SNP	G	G	A	rs140007233		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:31588885G>A	uc002rnv.1	-	21	2492	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	805					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACAGTGCTCCGGGTCTCCTTG	0.527													A	31588885	G	A	31588885	3	1	244	1	0	0	0	0	1	0	0	0	17423	1115	39	2	1648	2	XDH	2	31588885	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	16024429	31588885	211610488	7	17005											
DQX1	165545	broad.mit.edu	37	2	74747143	74747143	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:74747143C>T	uc010yrw.2	-	8	1679	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	DQX1_uc002smc.3_Missense_Mutation_p.R66H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	505						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTGGAGGACGGGTAAACCC	0.527													T	74747143	C	T	74747143	3	4	244	1	0	0	0	0	1	0	0	0	4751	536	19	1	655	1	DQX1	2	74747143	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	43158258	74747143	168452230	8	17006											
OSBPL10	114884	broad.mit.edu	37	3	31921180	31921180	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:31921180A>G	uc021wuu.1	-	1	1095	c.424T>C	c.(424-426)Tac>Cac	p.Y142H	OSBPL10_uc011axf.2_Missense_Mutation_p.Y142H	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	142	PH.				lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTAGCAGAGTACACCACCAGC	0.483													G	31921180	A	G	31921180	3	3	244	1	0	0	0	0	1	0	0	0	11275	391	14	4	1914	4	OSBPL10	3	31921180	Missense_Mutation	SNP	A	TCGA-41-2573-01A-01D-1495-08		31921180	166101250	9	17007											
IMPDH2	3615	broad.mit.edu	37	3	49064276	49064276	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:49064276G>A	uc003cvt.3	-	6	755	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	221	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TCCGGGCAATGATGGCCACAA	0.527													A	49064276	G	A	49064276	2	1	244	1	0	0	0	0	0	0	0	1	7727	1280	45	3		3	IMPDH2	3	49064276	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08	17143096	49064276	148958154	10	17008											
HCLS1	3059	broad.mit.edu	37	3	121351248	121351248	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:121351248C>T	uc003eeh.4	-	11	1296	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	HCLS1_uc011bjj.2_Missense_Mutation_p.D354N|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	391					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCTGGTTCATCCTCCTGCTCA	0.552													T	121351248	C	T	121351248	3	4	244	1	0	0	0	0	1	0	0	0	6995	855	30	3	301	3	HCLS1	3	121351248	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	72286972	121351248	76671182	11	17009											
LEKR1	389170	broad.mit.edu	37	3	156763431	156763431	+	Silent	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:156763431C>T	uc021xgh.1	+	12	2085	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTAGATCAGGCGTGCCCATTC	0.537													T	156763431	C	T	156763431	2	4	244	1	0	0	0	0	0	0	0	1	8717	755	27	1		1	LEKR1	3	156763431	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08	35412183	156763431	41258999	12	17010											
ZNF718	152687	broad.mit.edu	37	4	60030	60030	+	Silent	SNP	A	A	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr4:60030A>T	uc003fzv.1	+	2	366	c.210A>T	c.(208-210)acA>acT	p.T70T	ZNF718_uc003fzt.4_Silent_p.T70T|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TACATGAGACAGCAGCCAAAC	0.468													T	60030	A	T	60030	2	4	244	1	0	0	0	0	0	0	0	1	18117	175	7	5		5	ZNF718	4	60030	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08		60030	191094246	13	17011											
UGT2A3	79799	broad.mit.edu	37	4	69795704	69795704	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr4:69795704C>A	uc003hef.2	-	5	1442	c.1411G>T	c.(1411-1413)Gcc>Tcc	p.A471S	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	471						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTGCTTGGCTCCTTTGTGG	0.488													A	69795704	C	A	69795704	3	1	244	1	0	0	0	0	1	0	0	0	16952	797	28	5	176	5	UGT2A3	4	69795704	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	69735674	69795704	121358572	14	17012											
HSPB3	8988	broad.mit.edu	37	5	53751481	53751481	+	Translation_Start_Site	SNP	T	T	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:53751481T>G	uc003jph.2	+	0						NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.						cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				ATTAAGTGATTGCGTCTGGGC	0.488													G	53751481	T	G	53751481	1	3	244	1	0	0	0	0	0	0	0	0	7421	1827	63	5		5	HSPB3	5	53751481	Translation_Start_Site	SNP	T	TCGA-41-2573-01A-01D-1495-08		53751481	127163779	15	17013											
MAP3K1	4214	broad.mit.edu	37	5	56179395	56179395	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:56179395G>A	uc003jqw.4	+	14	4209	c.3708G>A	c.(3706-3708)ccG>ccA	p.P1236P		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1236					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAAAACAACCGTATAGAGAAG	0.383													A	56179395	G	A	56179395	2	1	244	1	0	0	0	0	0	0	0	1	9243	1132	40	1		1	MAP3K1	5	56179395	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08	2427914	56179395	124735865	16	17014											
GPR98	84059	broad.mit.edu	37	5	89985863	89985863	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:89985863G>C	uc003kju.3	+	29	6772	c.6676G>C	c.(6676-6678)Gag>Cag	p.E2226Q	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2226					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTATTATTGAGGCCTCTGA	0.378													C	89985863	G	C	89985863	3	2	244	1	0	0	0	0	1	0	0	0	6721	1291	45	5	6794	5	GPR98	5	89985863	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	33806468	89985863	90929397	17	17015											
FTMT	94033	broad.mit.edu	37	5	121187869	121187869	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:121187869A>G	uc003kss.3	+	0	220	c.211A>G	c.(211-213)Aac>Gac	p.N71D		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	71	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGTGCGCCAGAACTTCCACCC	0.692													G	121187869	A	G	121187869	3	3	244	1	0	0	0	0	1	0	0	0	6085	246	9	4	213	4	FTMT	5	121187869	Missense_Mutation	SNP	A	TCGA-41-2573-01A-01D-1495-08	31202006	121187869	59727391	18	17016											
KCNMB1	3779	broad.mit.edu	37	5	169805757	169805757	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:169805757G>A	uc003maq.1	-	3	927	c.527C>T	c.(526-528)gCc>gTc	p.A176V	KCNIP1_uc003map.3_Intron	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	176					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CTTCACCATGGCGATAATGAG	0.612													A	169805757	G	A	169805757	3	1	244	1	0	0	0	0	1	0	0	0	8074	1203	42	3	52	3	KCNMB1	5	169805757	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	48617888	169805757	11109503	19	17017											
DSP	1832	broad.mit.edu	37	6	7581800	7581800	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:7581800G>A	uc003mxp.1	+	22	5656	c.5377G>A	c.(5377-5379)Gag>Aag	p.E1793K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1793	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGGCTTTAGAGGTATTCAC	0.383													A	7581800	G	A	7581800	3	1	244	1	0	0	0	0	1	0	0	0	4781	943	33	3	5467	3	DSP	6	7581800	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08		7581800	163533267	20	17018											
MAS1L	116511	broad.mit.edu	37	6	29455047	29455047	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:29455047G>A	uc011dlq.2	-	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	211						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGTAAGTTAGGAAAAGTGATT	0.433													A	29455047	G	A	29455047	2	1	244	1	0	0	0	0	0	0	0	1	9321	1165	41	3		3	MAS1L	6	29455047	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08	21873247	29455047	141660020	21	17019											
MDN1	23195	broad.mit.edu	37	6	90360511	90360511	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:90360511G>A	uc003pnn.1	-	95	16087	c.15971C>T	c.(15970-15972)tCa>tTa	p.S5324L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5324					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAACCGTTGTGAAAGAGGCGC	0.493													A	90360511	G	A	90360511	3	1	244	1	0	0	0	0	1	0	0	0	9415	1294	45	3	847	3	MDN1	6	90360511	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	60905464	90360511	80754556	22	17020											
TMEM200A	114801	broad.mit.edu	37	6	130762228	130762228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:130762228C>T	uc003qcb.3	+	1	3039	c.661C>T	c.(661-663)Cga>Tga	p.R221*	TMEM200A_uc003qca.3_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfh.3_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.3_Nonsense_Mutation_p.R221*|TMEM200A_uc021zfg.1_Nonsense_Mutation_p.R221*	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	221						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAGCAGTTTTCGAATGGACAG	0.478													T	130762228	C	T	130762228	4	4	244	1	0	0	0	0	0	1	0	0	16120	876	31	2	663	2	TMEM200A	6	130762228	Nonsense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	40401717	130762228	40352839	23	17021											
SRCRB4D	136853	broad.mit.edu	37	7	76033672	76033672	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:76033672G>A	uc003ufb.3	-	1	433	c.85C>T	c.(85-87)Cct>Tct	p.P29S	ZP3_uc003ufc.4_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	29						extracellular region|membrane	scavenger receptor activity	p.P29A(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AGGAAGGGAGGGGCAGCACTC	0.572													A	76033672	G	A	76033672	3	1	244	1	0	0	0	0	1	0	0	0	15136	1232	43	3	1682	3	SRCRB4D	7	76033672	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08		76033672	83104991	24	17022											
AKR1B15	441282	broad.mit.edu	37	7	134254273	134254273	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:134254273G>A	uc011kpr.2	+	4	726	c.427G>A	c.(427-429)Gga>Aga	p.G143R		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	143							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGGCCACAGGGATTCAAGGT	0.507													A	134254273	G	A	134254273	3	1	244	1	0	0	0	0	1	0	0	0	468	1233	43	3	437	3	AKR1B15	7	134254273	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	58220601	134254273	24884390	25	17023											
ZC3HAV1	56829	broad.mit.edu	37	7	138794019	138794019	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:138794019C>T	uc003vun.3	-	0	447	c.59G>A	c.(58-60)cGc>cAc	p.R20H	ZC3HAV1_uc003vup.3_Missense_Mutation_p.R20H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	20					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGGGCCATGCGGCCCCCGTG	0.701													T	138794019	C	T	138794019	3	4	244	1	0	0	0	0	1	0	0	0	17572	768	27	1	2705	1	ZC3HAV1	7	138794019	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	4539746	138794019	20344644	26	17024											
PRSS1	5644	broad.mit.edu	37	7	142459677	142459677	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:142459677G>A	uc003wak.2	+	2	270	c.253G>A	c.(253-255)Gag>Aag	p.E85K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.E25K	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	85	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.E85Q(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGAGGGGAATGAGCAGTTCAT	0.547													A	142459677	G	A	142459677	3	1	244	1	0	0	0	0	1	0	0	0	12614	1291	45	3	263	3	PRSS1	7	142459677	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	3665658	142459677	16678986	27	17025											
POLB	5423	broad.mit.edu	37	8	42220141	42220141	+	Silent	SNP	A	A	G			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:42220141A>G	uc003xoz.2	+	10	803	c.633A>G	c.(631-633)ttA>ttG	p.L211L	POLB_uc011lcs.2_Silent_p.L57L	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	211					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CAAAACTGTTACATCAGGTTG	0.333								DNA polymerases (catalytic subunits)					G	42220141	A	G	42220141	2	3	244	1	0	0	0	0	0	0	0	1	12189	388	14	4		4	POLB	8	42220141	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08		42220141	104143881	28	17026											
FAM83H	286077	broad.mit.edu	37	8	144808347	144808347	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:144808347C>T	uc003yzk.3	-	4	3353	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1095					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTGTCCGAGCGGAAGATGGC	0.697													T	144808347	C	T	144808347	3	4	244	1	0	0	0	0	1	0	0	0	5640	768	27	1	259	1	FAM83H	8	144808347	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	102588206	144808347	1555675	29	17027											
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:137591840C>T	uc004cfe.3	+	2	745	c.363C>T	c.(361-363)aaC>aaT	p.N121N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													T	137591840	C	T	137591840	2	4	244	1	0	0	0	0	0	0	0	1	3696	535	19	1		1	COL5A1	9	137591840	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08		137591840	3621591	30	17028											
SOHLH1	402381	broad.mit.edu	37	9	138586241	138586241	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:138586241G>A	uc010nbe.3	-	6	999	c.938C>T	c.(937-939)tCg>tTg	p.S313L	SOHLH1_uc004cgl.3_Missense_Mutation_p.S313L	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	313					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			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)		ACCCGGCCACGAGCTGGGACC	0.637													A	138586241	G	A	138586241	3	1	244	1	0	0	0	0	1	0	0	0	14923	1059	37	2	274	2	SOHLH1	9	138586241	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	994401	138586241	2627190	31	17029											
PTEN	5728	broad.mit.edu	37	10	89692800	89692800	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr10:89692800C>T	uc001kfb.3	+	4	1316	c.284C>T	c.(283-285)cCa>cTa	p.P95L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	95	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P95L(6)|p.?(5)|p.R55fs*1(5)|p.P95S(4)|p.Y27fs*1(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.N94Y(1)|p.F90_P95>L(1)|p.F56fs*2(1)|p.N94I(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCATAACCCACCACAGCTA	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692800	C	T	89692800	3	4	244	1	0	0	0	0	1	0	0	0	12738	594	21	3	302	3	PTEN	10	89692800	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		89692800	45841947	32	17030											
PHRF1	57661	broad.mit.edu	37	11	608268	608268	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:608268C>T	uc001lqe.3	+	13	2943	c.2812C>T	c.(2812-2814)Cca>Tca	p.P938S	PHRF1_uc010qwc.2_Missense_Mutation_p.P937S|PHRF1_uc010qwd.2_Missense_Mutation_p.P936S|PHRF1_uc010qwe.2_Missense_Mutation_p.P934S|PHRF1_uc009ybz.1_Missense_Mutation_p.P728S|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	938							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCATCCCCCCCAGAGCCCTG	0.697													T	608268	C	T	608268	3	4	244	1	0	0	0	0	1	0	0	0	11861	623	22	3	2859	3	PHRF1	11	608268	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		608268	134398248	33	17031											
OR51D1	390038	broad.mit.edu	37	11	4661911	4661911	+	Silent	SNP	T	T	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:4661911T>A	uc010qyk.2	+	0	967	c.891T>A	c.(889-891)ccT>ccA	p.P297P		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTACCACCTGTAGTCAACC	0.522													A	4661911	T	A	4661911	2	1	244	1	0	0	0	0	0	0	0	1	11093	1567	55	5		5	OR51D1	11	4661911	Silent	SNP	T	TCGA-41-2573-01A-01D-1495-08	4053643	4661911	130344605	34	17032											
OR51T1	401665	broad.mit.edu	37	11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	rs151076376	byFrequency	TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:4904034G>A	uc010qyp.2	+	0	986	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R329L(2)|p.R302L(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	0.483													A	4904034	G	A	4904034	3	1	244	1	0	0	0	0	1	0	0	0	11106	1087	38	1	988	1	OR51T1	11	4904034	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	242123	4904034	130102482	35	17033											
SLC17A6	57084	broad.mit.edu	37	11	22399231	22399231	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:22399231T>C	uc001mqk.3	+	11	2107	c.1694T>C	c.(1693-1695)gTa>gCa	p.V565A		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	565					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAGGAATTTGTACAAGGAGAA	0.353													C	22399231	T	C	22399231	3	2	244	1	0	0	0	0	1	0	0	0	14421	1638	57	4	1740	4	SLC17A6	11	22399231	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08	17495197	22399231	112607285	36	17034											
OR4C15	81309	broad.mit.edu	37	11	55322570	55322570	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:55322570A>T	uc010rig.2	+	0	788	c.788A>T	c.(787-789)aAc>aTc	p.N263I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCATCATAAACTTCTCCTTG	0.478										HNSCC(20;0.049)			T	55322570	A	T	55322570	3	4	244	1	0	0	0	0	1	0	0	0	11048	43	2	5	790	5	OR4C15	11	55322570	Missense_Mutation	SNP	A	TCGA-41-2573-01A-01D-1495-08	32923339	55322570	79683946	37	17035											
VWF	7450	broad.mit.edu	37	12	6138532	6138532	+	Silent	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:6138532G>A	uc001qnn.1	-	21	3193	c.2943C>T	c.(2941-2943)tcC>tcT	p.S981S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	981	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCAGGACCACGGAGATGCTCA	0.552													A	6138532	G	A	6138532	2	1	244	1	0	0	0	0	0	0	0	1	17243	1103	39	2		2	VWF	12	6138532	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08		6138532	127713363	38	17036											
A2M	2	broad.mit.edu	37	12	9225468	9225468	+	Splice_Site	SNP	C	C	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:9225468C>A	uc001qvk.1	-	30	3870	c.3757_splice	c.e30-1	p.D1253_splice	A2M_uc009zgk.1_Splice_Site_p.D1103_splice	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1253					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCACTGTGTCCTGTTAGAGAC	0.478													A	9225468	C	A	9225468	5	1	244	1	0	0	0	0	0	0	1	0	4	695	24	5	696	5	A2M	12	9225468	Splice_Site	SNP	C	TCGA-41-2573-01A-01D-1495-08	3086936	9225468	124626427	39	17037											
YARS2	51067	broad.mit.edu	37	12	32908585	32908585	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:32908585G>C	uc001rli.3	-	0	303	c.224C>G	c.(223-225)aCc>aGc	p.T75S		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	75					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ACAGTAAATGGTTTGGGGAAA	0.577											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	32908585	G	C	32908585	3	2	244	1	0	0	0	0	1	0	0	0	17465	1261	44	5	1229	5	YARS2	12	32908585	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	23683117	32908585	100943310	40	17038											
CPNE8	144402	broad.mit.edu	37	12	39079420	39079420	+	Splice_Site	SNP	C	C	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:39079420C>A	uc001rls.1	-	16	1228	c.1144_splice	c.e16-1	p.N382_splice	CPNE8_uc001rlr.1_Splice_Site_p.N41_splice	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	382	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GATTCCCATTCTGTAGAAATT	0.383													A	39079420	C	A	39079420	5	1	244	1	0	0	0	0	0	0	1	0	3818	927	32	5	571	5	CPNE8	12	39079420	Splice_Site	SNP	C	TCGA-41-2573-01A-01D-1495-08	6170835	39079420	94772475	41	17039											
ALX1	8092	broad.mit.edu	37	12	85695101	85695101	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:85695101C>T	uc001tae.4	+	3	833	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	277					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P276P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCACGTGCCCCTCAACAATTT	0.473													T	85695101	C	T	85695101	3	4	244	1	0	0	0	0	1	0	0	0	556	681	24	3	843	3	ALX1	12	85695101	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	46615681	85695101	48156794	42	17040											
ZNF10	7556	broad.mit.edu	37	12	133732883	133732883	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:133732883T>C	uc009zzb.3	+	4	1498	c.1051T>C	c.(1051-1053)Tgt>Cgt	p.C351R	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.C351R	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACTGTACACATGTAATCAGTG	0.413													C	133732883	T	C	133732883	3	2	244	1	0	0	0	0	1	0	0	0	17709	1464	51	4	1065	4	ZNF10	12	133732883	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08	48037782	133732883	119012	43	17041											
RYR3	6263	broad.mit.edu	37	15	33822868	33822868	+	Splice_Site	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr15:33822868G>A	uc001zhi.3	+	4	424	c.354_splice	c.e4+1	p.M118_splice	RYR3_uc010bar.3_Splice_Site_p.M118_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	118	MIR 1.				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)		CAGCGGAATGGTAAGCAGCTC	0.498													A	33822868	G	A	33822868	5	1	244	1	0	0	0	0	0	0	1	0	13770	1275	44	3	369	3	RYR3	15	33822868	Splice_Site	SNP	G	TCGA-41-2573-01A-01D-1495-08		33822868	68708524	44	17042											
MGRN1	23295	broad.mit.edu	37	16	4731741	4731741	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:4731741G>A	uc002cxa.3	+	12	1459	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	MGRN1_uc002cwz.3_Missense_Mutation_p.R441H|MGRN1_uc010uxo.2_Missense_Mutation_p.R419H|MGRN1_uc010uxp.2_Missense_Mutation_p.R419H|MGRN1_uc010btw.3_Missense_Mutation_p.R420H|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	441					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GACAGCAGCCGCCAGAAGGGC	0.662													A	4731741	G	A	4731741	3	1	244	1	0	0	0	0	1	0	0	0	9559	1087	38	1	1375	1	MGRN1	16	4731741	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08		4731741	85623012	45	17043											
ATP6V0D1	9114	broad.mit.edu	37	16	67472549	67472549	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:67472549C>T	uc010vjo.1	-	8	1161	c.1061G>A	c.(1060-1062)gGt>gAt	p.G354D	ATP6V0D1_uc002ete.1_Missense_Mutation_p.G313D|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.G236D	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	313					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		ATAGAAGACACCAAAGTGGAA	0.547													T	67472549	C	T	67472549	3	4	244	1	0	0	0	0	1	0	0	0	1173	507	18	3	121	3	ATP6V0D1	16	67472549	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	62740808	67472549	22882204	46	17044											
FA2H	79152	broad.mit.edu	37	16	74750318	74750318	+	Silent	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:74750318C>T	uc002fde.2	-	5	1042	c.966G>A	c.(964-966)tcG>tcA	p.S322S	FA2H_uc002fdd.2_Silent_p.S95S|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	322					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CCTTGTGCGGCGAGCCAAAGT	0.602													T	74750318	C	T	74750318	2	4	244	1	0	0	0	0	0	0	0	1	5352	755	27	1		1	FA2H	16	74750318	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08	7277769	74750318	15604435	47	17045											
USP6	9098	broad.mit.edu	37	17	5042870	5042870	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:5042870T>A	uc002gau.1	+	21	3629	c.1399T>A	c.(1399-1401)Tgg>Agg	p.W467R	USP6_uc002gav.1_Missense_Mutation_p.W467R|USP6_uc010ckz.1_Missense_Mutation_p.W150R|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	467					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGGGCCCTTGGTTCCCCCA	0.617			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								A	5042870	T	A	5042870	3	1	244	1	0	0	0	0	1	0	0	0	17083	1812	63	5	1449	5	USP6	17	5042870	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08		5042870	76152340	48	17046											
MYH1	4619	broad.mit.edu	37	17	10412802	10412802	+	Silent	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:10412802C>T	uc002gmo.3	-	15	1681	c.1587_splice	c.e15+1	p.K529_splice	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	529	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAAGCCAACCTTCTCGATGA	0.433													T	10412802	C	T	10412802	2	4	244	1	0	0	0	0	0	0	0	1	10029	695	24	3		3	MYH1	17	10412802	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08	5369932	10412802	70782408	49	17047											
FKBP10	60681	broad.mit.edu	37	17	39969482	39969482	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:39969482C>T	uc002hxv.2	+	0	521	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	LEPREL4_uc002hxt.3_5'Flank|LEPREL4_uc002hxu.3_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	66	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGATTTTGTGCGCTACCACTA	0.627													T	39969482	C	T	39969482	3	4	244	1	0	0	0	0	1	0	0	0	5902	768	27	1	198	1	FKBP10	17	39969482	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	29556680	39969482	41225728	50	17048											
PPM1D	8493	broad.mit.edu	37	17	58725371	58725371	+	Silent	SNP	A	A	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:58725371A>T	uc002iyt.2	+	3	1177	c.945A>T	c.(943-945)ggA>ggT	p.G315G	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	315	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGAGTGATGGACTTTGGAATA	0.413													T	58725371	A	T	58725371	2	4	244	1	0	0	0	0	0	0	0	1	12337	262	10	5		5	PPM1D	17	58725371	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08	18755889	58725371	22469839	51	17049											
DNAH17	8632	broad.mit.edu	37	17	76420172	76420172	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:76420172C>T	uc010dhp.2	-	80	13329	c.13204G>A	c.(13204-13206)Gcc>Acc	p.A4402T	PGS1_uc002jvm.3_3'UTR|PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_3'UTR|PGS1_uc002jvo.3_Non-coding_Transcript|DNAH17_uc002jvq.3_Missense_Mutation_p.A687T|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.A4397T(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGCATGGCCGGGGTCAGC	0.602													T	76420172	C	T	76420172	3	4	244	1	0	0	0	0	1	0	0	0	4601	739	26	3	188	3	DNAH17	17	76420172	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	17694801	76420172	4775038	52	17050											
GDF5	8200	broad.mit.edu	37	20	34022173	34022173	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr20:34022173C>T	uc010gfc.1	-	1	1281	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	GDF5OS_uc002xcj.3_Missense_Mutation_p.A195V|GDF5_uc002xck.1_Missense_Mutation_p.R347H	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	347					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTTCTTGGTGCGGCCAAACAC	0.632													T	34022173	C	T	34022173	3	4	244	1	0	0	0	0	1	0	0	0	6316	768	27	1	469	1	GDF5	20	34022173	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		34022173	29003347	53	17051											
LAMA5	3911	broad.mit.edu	37	20	60900398	60900398	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr20:60900398C>T	uc002ycq.3	-	40	5570	c.5503G>A	c.(5503-5505)Gcc>Acc	p.A1835T	LAMA5_uc021wfw.1_Missense_Mutation_p.A1835T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1835	Laminin EGF-like 16; second part.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGTAGCTGGCGGGGCACAGG	0.672													T	60900398	C	T	60900398	3	4	244	1	0	0	0	0	1	0	0	0	8609	768	27	1	5744	1	LAMA5	20	60900398	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	26878225	60900398	2125122	54	17052											
LRRC47	57470	broad.mit.edu	37	1	3699235	3699235	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:3699235T>C	uc001akx.1	-	4	1431	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	468					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTTTGTCTTCTCACTGTTGGT	0.483													C	3699235	T	C	3699235	3	2	245	1	0	0	0	0	1	0	0	0	9004	1551	54	4	360	4	LRRC47	1	3699235	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08		3699235	245551386	1	17053											
PRAMEF12	390999	broad.mit.edu	37	1	12837263	12837263	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:12837263G>C	uc001aui.3	+	2	1000	c.973G>C	c.(973-975)Gac>Cac	p.D325H		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	325										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAAGAGCTAGACCTGAGGGG	0.577													C	12837263	G	C	12837263	3	2	245	1	0	0	0	0	1	0	0	0	12428	942	33	5	983	5	PRAMEF12	1	12837263	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	9138028	12837263	236413358	2	17054											
FHL3	2275	broad.mit.edu	37	1	38464646	38464646	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:38464646C>T	uc001cck.3	-	3	510	c.331_splice	c.e3+1	p.G111_splice	FHL3_uc001ccm.3_Splice_Site_p.G3_splice|FHL3_uc009vvl.2_Splice_Site_p.G111_splice	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	111	LIM zinc-binding 2.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAACACATACCAGGCATGACA	0.527													T	38464646	C	T	38464646	3	4	245	1	0	0	0	0	1	0	0	0	5880	608	21	3	527	3	FHL3	1	38464646	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	25627383	38464646	210785975	3	17055											
CDCP2	200008	broad.mit.edu	37	1	54605733	54605733	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:54605733G>A	uc001cwv.1	-	3	1658	c.810C>T	c.(808-810)agC>agT	p.S270S		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	270	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GGTACTGTGGGCTGGAGAAGT	0.617													A	54605733	G	A	54605733	2	1	245	1	0	0	0	0	0	0	0	1	3094	1194	42	3		3	CDCP2	1	54605733	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	16141087	54605733	194644888	4	17056											
RPF1	80135	broad.mit.edu	37	1	84962001	84962001	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:84962001T>C	uc001djv.4	+	7	1001	c.956T>C	c.(955-957)cTt>cCt	p.L319P		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	319	Brix.|RNA-binding (By similarity).				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTAAGGTCTCTTCAGAAAGGA	0.323													C	84962001	T	C	84962001	3	2	245	1	0	0	0	0	1	0	0	0	13546	1609	56	4	986	4	RPF1	1	84962001	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	30356268	84962001	164288620	5	17057											
FLG	2312	broad.mit.edu	37	1	152282534	152282534	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:152282534G>A	uc001ezu.1	-	2	4864	c.4828C>T	c.(4828-4830)Cgg>Tgg	p.R1610W		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1610	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GACTCAGACCGCCTCTCAGAG	0.572									Ichthyosis				A	152282534	G	A	152282534	3	1	245	1	0	0	0	0	1	0	0	0	5922	1086	38	1	7361	1	FLG	1	152282534	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	67320533	152282534	96968087	6	17058											
NCSTN	23385	broad.mit.edu	37	1	160318815	160318815	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:160318815A>G	uc001fvx.3	+	2	341	c.217A>G	c.(217-219)Atc>Gtc	p.I73V	NCSTN_uc009wtk.1_Non-coding_Transcript|NCSTN_uc001fvy.3_Missense_Mutation_p.I53V|NCSTN_uc010pjf.2_Missense_Mutation_p.I73V|NCSTN_uc010pjg.2_5'Flank	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	73					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	p.I73N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGGGGTTATCCACGTAGT	0.468													G	160318815	A	G	160318815	3	3	245	1	0	0	0	0	1	0	0	0	10241	449	16	4	227	4	NCSTN	1	160318815	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	8036281	160318815	88931806	7	17059											
RYR2	6262	broad.mit.edu	37	1	237780610	237780610	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:237780610T>C	uc001hyl.1	+	37	5860	c.5740T>C	c.(5740-5742)Tgt>Cgt	p.C1914R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1914	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			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)			TCAGTACCTCTGTGACTGCCA	0.398													C	237780610	T	C	237780610	3	2	245	1	0	0	0	0	1	0	0	0	13769	1580	55	4	5890	4	RYR2	1	237780610	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	77461795	237780610	11470011	8	17060											
TMEM214	54867	broad.mit.edu	37	2	27263616	27263616	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:27263616A>T	uc002ria.4	+	16	2091	c.1981A>T	c.(1981-1983)Agt>Tgt	p.S661C	TMEM214_uc002rib.4_Missense_Mutation_p.S616C	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	661						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GACACAGCTCAGTGAGGCTGT	0.532													T	27263616	A	T	27263616	3	4	245	1	0	0	0	0	1	0	0	0	16134	188	7	5	2047	5	TMEM214	2	27263616	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		27263616	215935757	9	17061											
THSD7B	80731	broad.mit.edu	37	2	138421119	138421119	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:138421119G>T	uc002tva.1	+	24	4535	c.4535G>T	c.(4534-4536)gGa>gTa	p.G1512V	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTTAAAGGATGGTCTCTT	0.368													T	138421119	G	T	138421119	3	4	245	1	0	0	0	0	1	0	0	0	15877	1174	41	5	4635	5	THSD7B	2	138421119	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	111157503	138421119	104778254	10	17062											
SCN3A	6328	broad.mit.edu	37	2	165996030	165996030	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:165996030T>C	uc002ucx.3	-	13	2600	c.2108A>G	c.(2107-2109)cAa>cGa	p.Q703R	SCN3A_uc002ucy.3_Missense_Mutation_p.Q654R|SCN3A_uc002ucz.3_Missense_Mutation_p.Q654R|SCN3A_uc002uda.1_Missense_Mutation_p.Q523R|SCN3A_uc002udb.1_Missense_Mutation_p.Q523R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	703						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CACGGCTCTTTGCCTTCCAGA	0.463													C	165996030	T	C	165996030	3	2	245	1	0	0	0	0	1	0	0	0	13918	1812	63	4	3954	4	SCN3A	2	165996030	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	27574911	165996030	77203343	11	17063											
TTN	7273	broad.mit.edu	37	2	179610349	179610349	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:179610349C>A	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.G5593V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			CTCAGCCATTCCTGATTTGTT	0.378													A	179610349	C	A	179610349	3	1	245	1	0	0	0	0	1	0	0	0	16732	855	30	5	93519	5	TTN	2	179610349	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	13614319	179610349	63589024	12	17064											
DNAJC10	54431	broad.mit.edu	37	2	183597246	183597246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:183597246C>T	uc002uow.1	+	9	1241	c.826C>T	c.(826-828)Cga>Tga	p.R276*	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R276*|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	276					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCACAGACACGACTCAGGCT	0.348													T	183597246	C	T	183597246	4	4	245	1	0	0	0	0	0	1	0	0	4629	528	19	1	856	1	DNAJC10	2	183597246	Nonsense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	3986897	183597246	59602127	13	17065											
PLCL1	5334	broad.mit.edu	37	2	198950332	198950332	+	Silent	SNP	G	G	A	rs147854527	by1000genomes	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:198950332G>A	uc010fsp.3	+	1	2489	c.2091G>A	c.(2089-2091)ccG>ccA	p.P697P	PLCL1_uc002uuv.4_Silent_p.P618P	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	697	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCTAAGGCCGTCTATAATGC	0.458													A	198950332	G	A	198950332	2	1	245	1	0	0	0	0	0	0	0	1	12039	1132	40	1		1	PLCL1	2	198950332	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	15353086	198950332	44249041	14	17066											
ZDBF2	57683	broad.mit.edu	37	2	207174816	207174816	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:207174816T>G	uc002vbp.2	+	4	5814	c.5564T>G	c.(5563-5565)tTc>tGc	p.F1855C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1855							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAGGTCGTTTCCACTGTTAC	0.418													G	207174816	T	G	207174816	3	3	245	1	0	0	0	0	1	0	0	0	17596	1783	62	5	5574	5	ZDBF2	2	207174816	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	8224484	207174816	36024557	15	17067											
FBLN2	2199	broad.mit.edu	37	3	13679178	13679178	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:13679178G>A	uc011avc.2	+	17	3837	c.3455G>A	c.(3454-3456)cGc>cAc	p.R1152H	FBLN2_uc011auz.2_Missense_Mutation_p.R1131H|FBLN2_uc011avb.2_Missense_Mutation_p.R1105H|FBLN2_uc011ava.2_Missense_Mutation_p.R1152H	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1105	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATATCTTCCGCATTGGCCCC	0.617													A	13679178	G	A	13679178	3	1	245	1	0	0	0	0	1	0	0	0	5699	1087	38	1	2211	1	FBLN2	3	13679178	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		13679178	184343252	16	17068											
CASR	846	broad.mit.edu	37	3	121981197	121981197	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:121981197C>A	uc003eew.4	+	3	1753	c.1315C>A	c.(1315-1317)Cct>Act	p.P439T	CASR_uc003eev.4_Missense_Mutation_p.P439T	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	439					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TACCTGCTTACCTGGGAGAGG	0.453													A	121981197	C	A	121981197	3	1	245	1	0	0	0	0	1	0	0	0	2682	507	18	5	1325	5	CASR	3	121981197	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	108302019	121981197	76041233	17	17069											
FETUB	26998	broad.mit.edu	37	3	186362631	186362631	+	Silent	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:186362631C>T	uc010hyq.3	+	4	777	c.516C>T	c.(514-516)acC>acT	p.T172T	FETUB_uc011brz.2_Silent_p.T24T|FETUB_uc003fqn.3_Silent_p.T172T|FETUB_uc010hyr.3_Silent_p.T135T|FETUB_uc010hys.3_Silent_p.T24T|FETUB_uc003fqp.4_Silent_p.T107T	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	172	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGGCTGCCACCGAGTCTCTTG	0.473													T	186362631	C	T	186362631	2	4	245	1	0	0	0	0	0	0	0	1	5821	639	23	2		2	FETUB	3	186362631	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	64381434	186362631	11659799	18	17070											
RAB28	9364	broad.mit.edu	37	4	13383174	13383174	+	Missense_Mutation	SNP	G	G	C	rs139395840	byFrequency	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:13383174G>C	uc003gmu.2	-	4	651	c.436C>G	c.(436-438)Cgg>Ggg	p.R146G	RAB28_uc003gmv.2_Non-coding_Transcript|RAB28_uc003gmt.2_Missense_Mutation_p.R146G|RAB28_uc011bwz.1_Missense_Mutation_p.R146G	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.	146					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	p.R146W(2)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TGGCAAAACCGTAAGTGTTTT	0.328													C	13383174	G	C	13383174	3	2	245	1	0	0	0	0	1	0	0	0	12916	1144	40	5	381	5	RAB28	4	13383174	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		13383174	177771102	19	17071											
NCAPG	64151	broad.mit.edu	37	4	17819684	17819684	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:17819684C>T	uc003gpp.3	+	6	1267	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L	NCAPG_uc011bxj.2_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	364					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTGCCAGAGCCTGTAGTATAT	0.368													T	17819684	C	T	17819684	3	4	245	1	0	0	0	0	1	0	0	0	10207	681	24	3	1117	3	NCAPG	4	17819684	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	4436510	17819684	173334592	20	17072											
ENAM	10117	broad.mit.edu	37	4	71508380	71508380	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:71508380G>T	uc011caw.1	+	8	1518	c.1237G>T	c.(1237-1239)Gta>Tta	p.V413L		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	413					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAAACACCCTGTAGGAACTAC	0.468													T	71508380	G	T	71508380	3	4	245	1	0	0	0	0	1	0	0	0	5112	1377	48	5	1267	5	ENAM	4	71508380	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	53688696	71508380	119645896	21	17073											
HEATR7B2	133558	broad.mit.edu	37	5	41009468	41009468	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:41009468C>G	uc003jmj.4	-	31	3824	c.3334G>C	c.(3334-3336)Gcc>Ccc	p.A1112P	HEATR7B2_uc003jmi.4_Missense_Mutation_p.A667P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1112							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCACTGGAGGCTGGCTTTTCA	0.498													G	41009468	C	G	41009468	3	3	245	1	0	0	0	0	1	0	0	0	7035	797	28	5	1467	5	HEATR7B2	5	41009468	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		41009468	139905792	22	17074											
PCDHGC5	56112	broad.mit.edu	37	5	140724302	140724302	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:140724302T>G	uc003ljm.2	+	0	702	c.702T>G	c.(700-702)gaT>gaG	p.D234E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.D234E	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	234	Cadherin 2.				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)			TAGTCCTGGATGCAAATGACA	0.527													G	140724302	T	G	140724302	3	3	245	1	0	0	0	0	1	0	0	0	11571	1461	51	5		5	PCDHGC5	5	140724302	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	99714834	140724302	40190958	23	17075											
PCDHGC5	8641	broad.mit.edu	37	5	140768648	140768648	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:140768648G>A	uc003lkc.2	+	0	1197	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	403	Cadherin 4.				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)			CAAGAAACACGTATAAATTAG	0.433													A	140768648	G	A	140768648	2	1	245	1	0	0	0	0	0	0	0	1	11571	1132	40	1		1	PCDHGC5	5	140768648	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	44346	140768648	40146612	24	17076											
RNF130	55819	broad.mit.edu	37	5	179390508	179390508	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:179390508T>G	uc003mll.1	-	7	1614	c.1207A>C	c.(1207-1209)Atg>Ctg	p.M403L	RNF130_uc003mlm.1_Intron	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	403					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGATGATCATGTAGCAGAGT	0.443													G	179390508	T	G	179390508	3	3	245	1	0	0	0	0	1	0	0	0	13438	1464	51	5	60	5	RNF130	5	179390508	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	38621860	179390508	1524752	25	17077											
TRIM7	81786	broad.mit.edu	37	5	180625194	180625194	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:180625194T>A	uc003mmz.1	-	5	1080	c.1013A>T	c.(1012-1014)aAa>aTa	p.K338I	TRIM7_uc003mmv.1_Missense_Mutation_p.K156I|TRIM7_uc003mmw.1_Missense_Mutation_p.K130I|TRIM7_uc003mmy.1_Missense_Mutation_p.K130I|TRIM7_uc003mmx.1_Missense_Mutation_p.K130I	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	338	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TTTCTCCTCTTTCTCCAGCTC	0.517													A	180625194	T	A	180625194	3	1	245	1	0	0	0	0	1	0	0	0	16540	1841	64	5	530	5	TRIM7	5	180625194	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	1234686	180625194	290066	26	17078											
LY6G6C	80740	broad.mit.edu	37	6	31687971	31687971	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:31687971C>A	uc003nwh.3	-	1	117	c.62G>T	c.(61-63)cGc>cTc	p.R21L	LY6G6C_uc010jtd.3_Non-coding_Transcript	NM_025261	NP_079537	O95867	LY66C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.	21	UPAR/Ly6.					anchored to membrane|plasma membrane		p.R21C(1)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GGAGTGACAGCGAATGTCAGC	0.592													A	31687971	C	A	31687971	3	1	245	1	0	0	0	0	1	0	0	0	9094	768	27	5	323	5	LY6G6C	6	31687971	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		31687971	139427096	27	17079											
DNAH8	1769	broad.mit.edu	37	6	38805720	38805720	+	Silent	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:38805720C>A	uc021yzh.1	+	32	4477	c.4368C>A	c.(4366-4368)gcC>gcA	p.A1456A	DNAH8_uc003ooe.2_Silent_p.A1239A	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						TGTTACAGGCCAGTTTCGATG	0.328													A	38805720	C	A	38805720	2	1	245	1	0	0	0	0	0	0	0	1	4607	581	21	5		5	DNAH8	6	38805720	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	7117749	38805720	132309347	28	17080											
TAAR1	134864	broad.mit.edu	37	6	132966395	132966395	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:132966395C>G	uc003qdm.1	-	0	748	c.748G>C	c.(748-750)Gtg>Ctg	p.V250L		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	250						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	AATGTCTTCACAGCTTTCCTT	0.393													G	132966395	C	G	132966395	3	3	245	1	0	0	0	0	1	0	0	0	15486	478	17	5	275	5	TAAR1	6	132966395	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	94160675	132966395	38148672	29	17081											
C6orf211	79624	broad.mit.edu	37	6	151789913	151789913	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:151789913A>C	uc003qok.1	+	4	1253	c.994A>C	c.(994-996)Aat>Cat	p.N332H	C6orf211_uc011ees.1_Missense_Mutation_p.N213H	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	332							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GGTTTACCACAATCATATATT	0.383													C	151789913	A	C	151789913	3	2	245	1	0	0	0	0	1	0	0	0	2354	130	5	5	1012	5	C6orf211	6	151789913	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	18823518	151789913	19325154	30	17082											
MRPL32	64983	broad.mit.edu	37	7	42977023	42977023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:42977023C>T	uc003tia.3	+	2	462	c.415C>T	c.(415-417)Cga>Tga	p.R139*	MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	139					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AGAAATCAGACGACAGATAGG	0.493													T	42977023	C	T	42977023	4	4	245	1	0	0	0	0	0	1	0	0	9795	528	19	1	425	1	MRPL32	7	42977023	Nonsense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		42977023	116161640	31	17083											
MYO1G	64005	broad.mit.edu	37	7	45016575	45016575	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:45016575G>C	uc003tmh.2	-	1	335	c.191C>G	c.(190-192)gCc>gGc	p.A64G	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	64	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGGTACCTGGCGATGGCCTC	0.627													C	45016575	G	C	45016575	3	2	245	1	0	0	0	0	1	0	0	0	10074	1203	42	5	2949	5	MYO1G	7	45016575	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	2039552	45016575	114122088	32	17084											
FZD1	8321	broad.mit.edu	37	7	90895152	90895152	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:90895152G>A	uc003ula.3	+	0	1370	c.957G>A	c.(955-957)tcG>tcA	p.S319S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	319					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGCTTCTCGCGCACCTGGA	0.617													A	90895152	G	A	90895152	2	1	245	1	0	0	0	0	0	0	0	1	6128	1074	38	1		1	FZD1	7	90895152	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	45878577	90895152	68243511	33	17085											
TAF6	6878	broad.mit.edu	37	7	99705016	99705016	+	Silent	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:99705016A>G	uc003uth.3	-	13	2195	c.2058T>C	c.(2056-2058)ccT>ccC	p.P686P	AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Silent_p.P551P|TAF6_uc003utm.3_Silent_p.P629P|TAF6_uc003uti.3_Silent_p.P629P|TAF6_uc003utk.3_Silent_p.P629P|TAF6_uc011kji.2_Silent_p.P666P	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	629					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGCCGGGGGAGGAACTGGAG	0.647													G	99705016	A	G	99705016	2	3	245	1	0	0	0	0	0	0	0	1	15527	291	11	4		4	TAF6	7	99705016	Silent	SNP	A	TCGA-41-2575-01A-01D-1495-08	8809864	99705016	59433647	34	17086											
ZCWPW1	55063	broad.mit.edu	37	7	100017408	100017408	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:100017408C>A	uc003uut.3	-	3	375	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.G42W|ZCWPW1_uc003uuu.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kjt.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kju.1_Missense_Mutation_p.G42W	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	43							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAACTGATCCCCGGGGTCTCC	0.493													A	100017408	C	A	100017408	3	1	245	1	0	0	0	0	1	0	0	0	17594	623	22	5	1879	5	ZCWPW1	7	100017408	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	312392	100017408	59121255	35	17087											
KCNU1	157855	broad.mit.edu	37	8	36766969	36766969	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:36766969G>T	uc010lvw.3	+	20	2334	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	749						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGGAGCTGAAGGACATAGTGT	0.458													T	36766969	G	T	36766969	3	4	245	1	0	0	0	0	1	0	0	0	8093	991	35	5	2329	5	KCNU1	8	36766969	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		36766969	109597053	36	17088											
FGFR1	2260	broad.mit.edu	37	8	38282202	38282202	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:38282202C>A	uc022aua.1	-	6	1703	c.761G>T	c.(760-762)cGg>cTg	p.R254L	FGFR1_uc011lbu.2_Missense_Mutation_p.R285L|FGFR1_uc011lbv.2_Missense_Mutation_p.R252L|FGFR1_uc011lbw.2_Missense_Mutation_p.R165L|FGFR1_uc003xlp.3_Missense_Mutation_p.R254L|FGFR1_uc022aub.1_Missense_Mutation_p.R252L|FGFR1_uc022auc.1_Missense_Mutation_p.R165L|FGFR1_uc022aud.1_Missense_Mutation_p.R163L|FGFR1_uc010lwk.3_Missense_Mutation_p.R246L|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Missense_Mutation_p.R94L|FGFR1_uc011lbt.1_Missense_Mutation_p.R163L|FGFR1_uc011lbx.1_Missense_Mutation_p.R165L|FGFR1_uc003xlv.3_Missense_Mutation_p.R165L|FGFR1_uc003xlu.3_Missense_Mutation_p.R163L	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	254			R -> Q (in KAL2).		axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CAGGATGGGCCGGTGAGGGGA	0.612		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						A	38282202	C	A	38282202	3	1	245	1	0	0	0	0	1	0	0	0	5863	652	23	5	1995	5	FGFR1	8	38282202	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	1515233	38282202	108081820	37	17089											
FNTA	2339	broad.mit.edu	37	8	42927324	42927324	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:42927324G>C	uc003xps.3	+	5	555	c.507_splice	c.e5-1	p.W169_splice	FNTA_uc003xpt.3_Splice_Site_p.W78_splice|FNTA_uc003xpv.3_Splice_Site	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	169					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGGGCTTTAGGCATCATAGGC	0.368													C	42927324	G	C	42927324	3	2	245	1	0	0	0	0	1	0	0	0	5977	1217	42	5	525	5	FNTA	8	42927324	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	4645122	42927324	103436698	38	17090											
PXDNL	137902	broad.mit.edu	37	8	52339264	52339264	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:52339264T>G	uc003xqu.4	-	12	1681	c.1580A>C	c.(1579-1581)aAt>aCt	p.N527T		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	527	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			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)				AATGTTTATATTCTTTCCAAC	0.338													G	52339264	T	G	52339264	3	3	245	1	0	0	0	0	1	0	0	0	12848	1493	52	5	2855	5	PXDNL	8	52339264	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	9411940	52339264	94024758	39	17091											
UBXN2B	137886	broad.mit.edu	37	8	59345800	59345800	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:59345800G>T	uc003xtl.3	+	3	543	c.421G>T	c.(421-423)Gat>Tat	p.D141Y		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.	141	SEP.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCAGCTGCAAGATGTAGGTAC	0.284													T	59345800	G	T	59345800	3	4	245	1	0	0	0	0	1	0	0	0	16912	942	33	5	435	5	UBXN2B	8	59345800	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	7006536	59345800	87018222	40	17092											
LRRCC1	85444	broad.mit.edu	37	8	86047170	86047170	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:86047170C>T	uc003ycw.3	+	12	2265	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	LRRCC1_uc022awx.1_Missense_Mutation_p.S593F|LRRCC1_uc010maa.2_Missense_Mutation_p.S387F|LRRCC1_uc003ycy.3_Missense_Mutation_p.S666F	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	686					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATGAGTCTTCCTCTTTAATT	0.333													T	86047170	C	T	86047170	3	4	245	1	0	0	0	0	1	0	0	0	9026	855	30	3	2107	3	LRRCC1	8	86047170	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	26701370	86047170	60316852	41	17093											
GRHL2	79977	broad.mit.edu	37	8	102649132	102649132	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:102649132A>G	uc010mbu.3	+	11	1823	c.1493A>G	c.(1492-1494)tAc>tGc	p.Y498C		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	498						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAGGTGTATTACAACACGGAT	0.408													G	102649132	A	G	102649132	3	3	245	1	0	0	0	0	1	0	0	0	6764	391	14	4	1539	4	GRHL2	8	102649132	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	16601962	102649132	43714890	42	17094											
PLEC	5339	broad.mit.edu	37	8	144996426	144996426	+	Silent	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:144996426C>T	uc003zaf.1	-	31	8144	c.7974G>A	c.(7972-7974)caG>caA	p.Q2658Q	PLEC_uc003zab.1_Silent_p.Q2521Q|PLEC_uc003zac.1_Silent_p.Q2525Q|PLEC_uc003zad.2_Silent_p.Q2521Q|PLEC_uc003zae.1_Silent_p.Q2489Q|PLEC_uc003zag.1_Silent_p.Q2499Q|PLEC_uc003zah.2_Silent_p.Q2507Q|PLEC_uc003zaj.2_Silent_p.Q2548Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2658	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACCTCGTCCTGGAAGAGCT	0.642													T	144996426	C	T	144996426	2	4	245	1	0	0	0	0	0	0	0	1	12052	680	24	3		3	PLEC	8	144996426	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	42347294	144996426	1367596	43	17095											
FOXD4L5	653427	broad.mit.edu	37	9	70177706	70177706	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr9:70177706G>A	uc010moc.3	-	0	1110	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	93					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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.P93P(1)		endometrium(5)|lung(2)	7						AGACCTTGGCGGTGCCCTGAA	0.682													A	70177706	G	A	70177706	3	1	245	1	0	0	0	0	1	0	0	0	6002	1116	39	2	976	2	FOXD4L5	9	70177706	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		70177706	71035725	44	17096											
RET	5979	broad.mit.edu	37	10	43597850	43597850	+	Missense_Mutation	SNP	G	G	A	rs138265837		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:43597850G>A	uc001jal.3	+	2	588	c.398G>A	c.(397-399)cGt>cAt	p.R133H	RET_uc001jak.1_Missense_Mutation_p.R133H|RET_uc010qez.1_5'Flank	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	133					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		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)	ACATCCCTTCGTGAGGGCGAG	0.617		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				A	43597850	G	A	43597850	3	1	245	1	0	0	0	0	1	0	0	0	13235	1145	40	1	408	1	RET	10	43597850	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		43597850	91936897	45	17097											
FAM13C	220965	broad.mit.edu	37	10	61022289	61022289	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:61022289G>C	uc010qif.1	-	9	1273	c.1207C>G	c.(1207-1209)Ccg>Gcg	p.P403A	FAM13C_uc010qid.2_Missense_Mutation_p.P298A|FAM13C_uc001jkn.3_Missense_Mutation_p.P381A|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Missense_Mutation_p.P298A|FAM13C_uc001jkp.3_Missense_Mutation_p.P298A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	381										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGGCTCCGGGCCCGCAGCT	0.547													C	61022289	G	C	61022289	3	2	245	1	0	0	0	0	1	0	0	0	5454	1232	43	5	636	5	FAM13C	10	61022289	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	17424439	61022289	74512458	46	17098											
RNH1	6050	broad.mit.edu	37	11	494709	494709	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:494709G>A	uc001lpk.1	-	8	2776	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	RNH1_uc001lpl.1_Silent_p.S456S|RNH1_uc001lpm.1_Silent_p.S456S|RNH1_uc001lpn.1_Silent_p.S456S|RNH1_uc001lpo.1_Silent_p.S456S|RNH1_uc001lpp.2_Silent_p.S456S|RNH1_uc001lpq.2_Silent_p.S456S|RNH1_uc001lpr.2_Silent_p.S456S|RNH1_uc001lps.2_Silent_p.S456S	NM_203389	NP_976323	P13489	RINI_HUMAN	Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA.	456					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCCTCAGGGATGGCTTGT	0.647													A	494709	G	A	494709	2	1	245	1	0	0	0	0	0	0	0	1	13504	1219	43	3		3	RNH1	11	494709	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08		494709	134511807	47	17099											
CD59	966	broad.mit.edu	37	11	33731856	33731856	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:33731856T>C	uc001mus.4	-	2	485	c.203A>G	c.(202-204)gAg>gGg	p.E68G	CD59_uc009yjx.3_Missense_Mutation_p.E68G|CD59_uc009yjy.3_Missense_Mutation_p.E68G|CD59_uc009yjz.3_Missense_Mutation_p.E68G|CD59_uc001mut.4_Missense_Mutation_p.E68G|CD59_uc009yka.3_Missense_Mutation_p.E68G|CD59_uc001muu.4_Missense_Mutation_p.E68G|CD59_uc001muv.4_Missense_Mutation_p.E68G	NM_001127223	NP_976076	P13987	CD59_HUMAN	Homo sapiens CD59 molecule, complement regulatory protein (CD59), transcript variant 5, mRNA.	68	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						ATTGCAATGCTCAAACTTCCA	0.433													C	33731856	T	C	33731856	3	2	245	1	0	0	0	0	1	0	0	0	3026	1551	54	4	187	4	CD59	11	33731856	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	33237147	33731856	101274660	48	17100											
OR5AK2	390181	broad.mit.edu	37	11	56756567	56756567	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:56756567A>G	uc010rjp.2	+	0	179	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T59T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACACTCACGTACTTTTTTCTA	0.358													G	56756567	A	G	56756567	3	3	245	1	0	0	0	0	1	0	0	0	11142	391	14	4	181	4	OR5AK2	11	56756567	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	23024711	56756567	78249949	49	17101											
PC	5091	broad.mit.edu	37	11	66618277	66618277	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:66618277C>A	uc001ojn.1	-	15	2390	c.2341G>T	c.(2341-2343)Gca>Tca	p.A781S	PC_uc001ojo.1_Missense_Mutation_p.A781S|PC_uc001ojp.1_Missense_Mutation_p.A781S	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	781	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGCATGGCTGCCACGCCTGCC	0.657													A	66618277	C	A	66618277	3	1	245	1	0	0	0	0	1	0	0	0	11497	739	26	5	1219	5	PC	11	66618277	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	9861710	66618277	68388239	50	17102											
SLC38A4	55089	broad.mit.edu	37	12	47163207	47163207	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:47163207C>T	uc001rpi.2	-	14	1703	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	SLC38A4_uc001rpj.2_Missense_Mutation_p.R435H	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	435					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CACTGATGTACGAATCTTAAA	0.353													T	47163207	C	T	47163207	3	4	245	1	0	0	0	0	1	0	0	0	14606	536	19	1	351	1	SLC38A4	12	47163207	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		47163207	86688688	51	17103											
TFCP2	7024	broad.mit.edu	37	12	51501060	51501060	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:51501060C>T	uc001rxw.3	-	6	1508	c.787G>A	c.(787-789)Gag>Aag	p.E263K	TFCP2_uc001rxv.2_Missense_Mutation_p.E263K|TFCP2_uc009zlx.2_Missense_Mutation_p.E212K|TFCP2_uc009zly.1_Missense_Mutation_p.E165K	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	263	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TGATATTTCTCCTTTTCATGA	0.323													T	51501060	C	T	51501060	3	4	245	1	0	0	0	0	1	0	0	0	15792	864	30	3	757	3	TFCP2	12	51501060	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	4337853	51501060	82350835	52	17104											
PCDH9	5101	broad.mit.edu	37	13	67802278	67802279	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr13:67802278_67802279delCA	uc001vik.3	-	1	986_987	c.294_295delTG	c.(292-297)tgtgctfs	p.C98fs	PCDH9_uc001vil.3_Frame_Shift_Del_p.C98fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.C98fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.C98fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	98	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGGCGCCAGCACAGAGTTTTT	0.436													-	67802279	CA	-	67802278	7	5	245	1	0	1	0	1	0	0	0	0	11518	710	25	0	3434	0	PCDH9	13	67802278	Frame_Shift_Del	DEL	CA	TCGA-41-2575-01A-01D-1495-08		67802278	47367600	53	17105											
FARP1	10160	broad.mit.edu	37	13	99061722	99061722	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr13:99061722G>A	uc001vnh.3	+	13	1784	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	FARP1_uc001vnj.3_Silent_p.P515P	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	515					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGATCAGCCCGCTGCTGAATG	0.652													A	99061722	G	A	99061722	2	1	245	1	0	0	0	0	0	0	0	1	5676	1074	38	1		1	FARP1	13	99061722	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	31259444	99061722	16108156	54	17106											
RNASE2	6036	broad.mit.edu	37	14	21424331	21424331	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:21424331A>T	uc021ros.1	+	0	401	c.401A>T	c.(400-402)tAt>tTt	p.Y134F	RNASE2_uc010aif.2_Missense_Mutation_p.Y134F|RNASE2_uc001vyl.1_Missense_Mutation_p.Y134F	NM_002934	NP_002925	P10153	RNAS2_HUMAN	Homo sapiens ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (RNASE2), mRNA.	134					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		AACATGTTCTATATAGTTGCA	0.463													T	21424331	A	T	21424331	3	4	245	1	0	0	0	0	1	0	0	0	13404	449	16	5	403	5	RNASE2	14	21424331	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		21424331	85925209	55	17107											
KCNH5	27133	broad.mit.edu	37	14	63316419	63316419	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:63316419A>T	uc001xfx.3	-	7	1572	c.1521T>A	c.(1519-1521)gaT>gaA	p.D507E	KCNH5_uc001xfy.3_Missense_Mutation_p.D507E|KCNH5_uc001xfz.1_Missense_Mutation_p.D449E	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	507					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGACAATATAATCCATGACTC	0.378													T	63316419	A	T	63316419	3	4	245	1	0	0	0	0	1	0	0	0	8035	98	4	5	1495	5	KCNH5	14	63316419	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	41892088	63316419	44033121	56	17108											
ADAMTS7	11173	broad.mit.edu	37	15	79059849	79059849	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr15:79059849C>T	uc002bej.4	-	17	2942	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	911	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V911M(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGCCCCACGCTGCGGATG	0.706													T	79059849	C	T	79059849	3	4	245	1	0	0	0	0	1	0	0	0	271	536	19	1	2357	1	ADAMTS7	15	79059849	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		79059849	23471543	57	17109											
ADAMTS17	170691	broad.mit.edu	37	15	100591784	100591784	+	Silent	SNP	G	G	A	rs146325180	by1000genomes	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr15:100591784G>A	uc002bvv.1	-	16	2527	c.2448C>T	c.(2446-2448)tgC>tgT	p.C816C		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	816	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C816C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACCTCCGCCGCACTGCACAC	0.567													A	100591784	G	A	100591784	2	1	245	1	0	0	0	0	0	0	0	1	262	1079	38	1		1	ADAMTS17	15	100591784	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	21531935	100591784	1939608	58	17110											
IL4R	3566	broad.mit.edu	37	16	27374437	27374437	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr16:27374437G>A	uc002don.3	+	10	2006	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	IL4R_uc002dop.4_Silent_p.Q573Q|IL4R_uc010bxy.3_Silent_p.Q588Q|IL4R_uc002doo.3_Silent_p.Q428Q	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	588	Required for IL4-induced gene expression.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GTGGCACCCAGGCCAGTGCGG	0.637													A	27374437	G	A	27374437	2	1	245	1	0	0	0	0	0	0	0	1	7698	991	35	3		3	IL4R	16	27374437	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08		27374437	62980316	59	17111											
YWHAE	7531	broad.mit.edu	37	17	1303395	1303395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:1303395G>A	uc002fsj.3	-	0	162	c.10C>T	c.(10-12)Cga>Tga	p.R4*	YWHAE_uc002fsk.3_5'UTR|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	4					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		AGATCCTCTCGATCATCCATA	0.657			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						A	1303395	G	A	1303395	4	1	245	1	0	0	0	0	0	1	0	0	17499	1066	37	2	781	2	YWHAE	17	1303395	Nonsense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		1303395	79891815	60	17112											
YBX2	51087	broad.mit.edu	37	17	7194458	7194458	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:7194458A>G	uc002gfq.2	-	3	470	c.413T>C	c.(412-414)gTt>gCt	p.V138A		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	138	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CCCATCTCCAACGCTGCGCAG	0.502													G	7194458	A	G	7194458	3	3	245	1	0	0	0	0	1	0	0	0	17467	43	2	4	701	4	YBX2	17	7194458	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	5891063	7194458	74000752	61	17113											
TP53	7157	broad.mit.edu	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:7577609C>G	uc002gim.2	-	7	867	c.673_splice	c.e7-1	p.V225_splice	TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.3_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	225	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in a sporadic cancer; 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.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAGAGCCAACCTAGGAGATAA	0.527		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)			G	7577609	C	G	7577609	5	3	245	1	0	0	0	0	0	0	1	0	16378	695	24	5	618	5	TP53	17	7577609	Splice_Site	SNP	C	TCGA-41-2575-01A-01D-1495-08	383151	7577609	73617601	62	17114											
WDR16	146845	broad.mit.edu	37	17	9546402	9546402	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:9546402G>T	uc010coc.3	+	14	2009	c.1780G>T	c.(1780-1782)Gtg>Ttg	p.V594L	USP43_uc002gma.4_5'Flank|USP43_uc010cod.3_5'Flank|USP43_uc010vva.2_5'Flank|WDR16_uc002gly.3_Missense_Mutation_p.V584L|WDR16_uc002glz.3_Missense_Mutation_p.V516L			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	584						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCACGTTGGGGTGGGACACAG	0.443													T	9546402	G	T	9546402	3	4	245	1	0	0	0	0	1	0	0	0	17273	1261	44	5	1804	5	WDR16	17	9546402	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	1968793	9546402	71648808	63	17115											
BRCA1	672	broad.mit.edu	37	17	41245683	41245683	+	Missense_Mutation	SNP	G	G	A	rs56039126		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:41245683G>A	uc002icq.3	-	9	2097	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.A551V|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.A575V|BRCA1_uc002ict.3_Missense_Mutation_p.A622V|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.A622V|BRCA1_uc002ide.1_Missense_Mutation_p.A453V|BRCA1_uc010cyy.1_Missense_Mutation_p.A622V|BRCA1_uc010whs.1_Missense_Mutation_p.A622V|BRCA1_uc010cyz.2_Missense_Mutation_p.A575V|BRCA1_uc010cza.2_Missense_Mutation_p.A596V|BRCA1_uc010wht.1_Missense_Mutation_p.A326V	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	622					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGTTCAAGCGCATGAATATG	0.358			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			A	41245683	G	A	41245683	3	1	245	1	0	0	0	0	1	0	0	0	1498	1087	38	1	3852	1	BRCA1	17	41245683	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	31699281	41245683	39949527	64	17116											
CSH2	1443	broad.mit.edu	37	17	61950623	61950623	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:61950623G>A	uc002jch.3	-	1	202	c.87C>T	c.(85-87)acC>acT	p.T29T	CSH2_uc002jci.3_Silent_p.T29T|CSH2_uc002jcg.3_Silent_p.T29T	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	29					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.T29T(3)|p.T29N(1)		endometrium(2)|large_intestine(1)|lung(3)	6						ATAACGGAACGGTTTGGACGG	0.597													A	61950623	G	A	61950623	2	1	245	1	0	0	0	0	0	0	0	1	3941	1103	39	2		2	CSH2	17	61950623	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	20704940	61950623	19244587	65	17117											
BPTF	2186	broad.mit.edu	37	17	65888098	65888098	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:65888098A>T	uc002jgf.3	+	4	2064	c.2003A>T	c.(2002-2004)cAg>cTg	p.Q668L	BPTF_uc002jge.3_Missense_Mutation_p.Q794L|BPTF_uc010wqm.1_Missense_Mutation_p.Q731L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	794	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGAGCCAGCAGGTGGCAGCC	0.433													T	65888098	A	T	65888098	3	4	245	1	0	0	0	0	1	0	0	0	1495	188	7	5	2407	5	BPTF	17	65888098	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	3937475	65888098	15307112	66	17118											
ABCA6	23460	broad.mit.edu	37	17	67077247	67077247	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:67077247G>A	uc002jhw.1	-	36	4831	c.4656C>T	c.(4654-4656)gaC>gaT	p.D1552D		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1552					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAGGGTAAACGTCTGCCACGG	0.373													A	67077247	G	A	67077247	2	1	245	1	0	0	0	0	0	0	0	1	36	1136	40	1		1	ABCA6	17	67077247	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	1189149	67077247	14117963	67	17119											
SERPINB3	6317	broad.mit.edu	37	18	61323102	61323102	+	Missense_Mutation	SNP	C	C	T	rs140650845	by1000genomes	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr18:61323102C>T	uc002lji.3	-	7	1106	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.R269H	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	321					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CACGAGACCGCGGCTCCCGGT	0.542													T	61323102	C	T	61323102	3	4	245	1	0	0	0	0	1	0	0	0	14102	768	27	1	214	1	SERPINB3	18	61323102	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		61323102	16754146	68	17120											
VAV1	7409	broad.mit.edu	37	19	6828653	6828653	+	Silent	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:6828653C>T	uc002mfu.1	+	11	1210	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N	VAV1_uc010xjh.1_Silent_p.N339N|VAV1_uc010dva.1_Silent_p.N371N|VAV1_uc002mfv.1_Silent_p.N316N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	371	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGTGCGTGAACGAGGTCAAGC	0.637													T	6828653	C	T	6828653	2	4	245	1	0	0	0	0	0	0	0	1	17128	535	19	1		1	VAV1	19	6828653	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08		6828653	52300330	69	17121											
TMEM205	374882	broad.mit.edu	37	19	11453778	11453778	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:11453778T>G	uc002mra.2	-	3	590	c.283A>C	c.(283-285)Agc>Cgc	p.S95R	TMEM205_uc002mrb.2_Missense_Mutation_p.S95R|TMEM205_uc002mqz.2_Missense_Mutation_p.S95R	NM_033408	NP_940938	Q6UW68	TM205_HUMAN	Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.	95						integral to membrane				endometrium(1)|lung(1)	2						AGCGTAAGGCTCAGGAACAGC	0.642													G	11453778	T	G	11453778	3	3	245	1	0	0	0	0	1	0	0	0	16127	1551	54	5	290	5	TMEM205	19	11453778	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	4625125	11453778	47675205	70	17122											
MLL2	9757	broad.mit.edu	37	19	36210728	36210728	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:36210728C>A	uc021usv.1	+	2	479	c.479C>A	c.(478-480)cCc>cAc	p.P160H	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1855					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AAGACGACCCCCCTTCCTCCT	0.612			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	36210728	C	A	36210728	3	1	245	1	0	0	0	0	1	0	0	0	9621	623	22	5		5	MLL2	19	36210728	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	24756950	36210728	22918255	71	17123											
LILRA4	23547	broad.mit.edu	37	19	54848149	54848149	+	Silent	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:54848149C>G	uc002qfj.3	-	5	1275	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	LILRA4_uc002qfi.3_Silent_p.L340L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	406	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TGGGGTGAGACAGCAGGTAGG	0.592													G	54848149	C	G	54848149	2	3	245	1	0	0	0	0	0	0	0	1	8787	465	17	5		5	LILRA4	19	54848149	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	18637421	54848149	4280834	72	17124											
ZIM3	114026	broad.mit.edu	37	19	57646590	57646590	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:57646590A>T	uc002qnz.1	-	4	1501	c.1115T>A	c.(1114-1116)tTt>tAt	p.F372Y		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCTGGATAAAGGTATTTCC	0.378													T	57646590	A	T	57646590	3	4	245	1	0	0	0	0	1	0	0	0	17682	14	1	5	307	5	ZIM3	19	57646590	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	2798441	57646590	1482393	73	17125											
SEMG2	6406	broad.mit.edu	37	20	43836974	43836974	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr20:43836974A>G	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.I346V|SEMG2_uc002xnj.2_Missense_Mutation_p.I286V	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGCAAATAAAATATCATACCA	0.393													G	43836974	A	G	43836974	3	3	245	1	0	0	0	0	1	0	0	0	14045	101	4	4		4	SEMG2	20	43836974	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		43836974	19188546	74	17126											
UBASH3A	53347	broad.mit.edu	37	21	43846877	43846877	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr21:43846877G>A	uc002zbe.3	+	7	1202	c.1118G>A	c.(1117-1119)gGg>gAg	p.G373E	UBASH3A_uc002zbf.3_Missense_Mutation_p.G335E|UBASH3A_uc010gpe.3_Missense_Mutation_p.G335E|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	373						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGATGCAGCGGGGAATTTCTT	0.473													A	43846877	G	A	43846877	3	1	245	1	0	0	0	0	1	0	0	0	16836	1232	43	3	1148	3	UBASH3A	21	43846877	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		43846877	4283018	75	17127											
GRAP2	9402	broad.mit.edu	37	22	40364194	40364194	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr22:40364194A>C	uc003ayh.2	+	5	871	c.608A>C	c.(607-609)cAg>cCg	p.Q203P	GRAP2_uc011aom.2_Missense_Mutation_p.Q177P|GRAP2_uc011aon.2_Missense_Mutation_p.Q137P|GRAP2_uc010gya.2_Missense_Mutation_p.Q203P|GRAP2_uc011aoo.2_Missense_Mutation_p.Q131P|GRAP2_uc011aop.2_Missense_Mutation_p.Q163P|GRAP2_uc011aoq.2_Missense_Mutation_p.Q90P|GRAP2_uc003ayj.2_Missense_Mutation_p.Q203P	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	203					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						caccagccacagcctccgcaa	0.617													C	40364194	A	C	40364194	3	2	245	1	0	0	0	0	1	0	0	0	6754	188	7	5	626	5	GRAP2	22	40364194	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		40364194	10940372	76	17128											
EIF2S3	1968	broad.mit.edu	37	X	24075581	24075581	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chrX:24075581A>T	uc004dbc.3	+	2	198	c.177A>T	c.(175-177)aaA>aaT	p.K59N		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	59						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						CAGTCGTCAAAGCTATTTCTG	0.328													T	24075581	A	T	24075581	3	4	245	1	0	0	0	0	1	0	0	0	5011	69	3	5	187	5	EIF2S3	23	24075581	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		24075581	131194979	77	17129											
UBE4B	10277	broad.mit.edu	37	1	10221285	10221285	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:10221285C>T	uc021ogc.1	+	23	3980	c.3292C>T	c.(3292-3294)Cga>Tga	p.R1098*	UBE4B_uc001aqs.4_Nonsense_Mutation_p.R1047*|UBE4B_uc001aqr.4_Nonsense_Mutation_p.R918*|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Nonsense_Mutation_p.R502*	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1047					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.R918*(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTCTCTGAAGCGAATCCATGA	0.493													T	10221285	C	T	10221285	4	4	246	1	0	0	0	0	0	1	0	0	16880	760	27	1	3229	1	UBE4B	1	10221285	Nonsense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		10221285	239029336	1	17130											
NGF	4803	broad.mit.edu	37	1	115828973	115828973	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:115828973G>A	uc021osd.1	-	0	444	c.444C>T	c.(442-444)acC>acT	p.T148T	NGF_uc001efu.1_Silent_p.T148T	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	148					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGTCTGTGGCGGTGGTCTTAT	0.527													A	115828973	G	A	115828973	2	1	246	1	0	0	0	0	0	0	0	1	10395	1103	39	2		2	NGF	1	115828973	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	105607688	115828973	133421648	2	17131											
GJA8	2703	broad.mit.edu	37	1	147380211	147380211	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:147380211C>T	uc021ovm.1	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_uc001epu.2_Silent_p.F43F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	43					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			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)					CCGCAGAGTTCGTGTGGGGGG	0.592													T	147380211	C	T	147380211	2	4	246	1	0	0	0	0	0	0	0	1	6405	883	31	2		2	GJA8	1	147380211	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	31551238	147380211	101870410	3	17132											
RPTN	126638	broad.mit.edu	37	1	152128025	152128028	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:152128025_152128028delTGTC	uc001ezs.1	-	2	1612_1615	c.1547_1550delGACA	c.(1546-1551)agacaafs	p.R516fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	516	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.5													-	152128028	TGTC	-	152128025	7	5	246	1	0	1	0	1	0	0	0	0	13664	1812	63	0	808	0	RPTN	1	152128025	Frame_Shift_Del	DEL	TGTC	TCGA-41-3392-01A-01D-1495-08	4747814	152128025	97122596	4	17133											
FLG	2312	broad.mit.edu	37	1	152278815	152278815	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:152278815G>A	uc001ezu.1	-	2	8583	c.8547C>T	c.(8545-8547)gaC>gaT	p.D2849D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2849	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GCCTGGAGCCGTCTCCTGATT	0.567									Ichthyosis				A	152278815	G	A	152278815	2	1	246	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152278815	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	150790	152278815	96971806	5	17134											
SPTA1	6708	broad.mit.edu	37	1	158604390	158604390	+	Missense_Mutation	SNP	A	A	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:158604390A>C	uc001fst.1	-	38	5707	c.5508T>G	c.(5506-5508)aaT>aaG	p.N1836K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1836			N -> S (in dbSNP:rs16830483).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATTCTTTTCATTGATCCAAG	0.418													C	158604390	A	C	158604390	3	2	246	1	0	0	0	0	1	0	0	0	15115	214	8	5	1807	5	SPTA1	1	158604390	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	6325575	158604390	90646231	6	17135											
REN	5972	broad.mit.edu	37	1	204129738	204129738	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:204129738G>A	uc001haq.2	-	3	486	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	148					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTTGAATAGCGGAGGGTGAGT	0.562													A	204129738	G	A	204129738	3	1	246	1	0	0	0	0	1	0	0	0	13224	1116	39	2	806	2	REN	1	204129738	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	45525348	204129738	45120883	7	17136											
RASSF5	83593	broad.mit.edu	37	1	206760184	206760184	+	Silent	SNP	T	T	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:206760184T>G	uc001hed.3	+	5	1188	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	RASSF5_uc001hec.1_3'UTR|RASSF5_uc001hee.3_3'UTR|RASSF5_uc001hef.3_Silent_p.L224L|RASSF5_uc001heg.1_3'UTR|RASSF5_uc021pie.1_5'Flank	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	377	SARAH.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCCTGAACTTCAGAACTTCC	0.458													G	206760184	T	G	206760184	2	3	246	1	0	0	0	0	0	0	0	1	13089	1770	62	5		5	RASSF5	1	206760184	Silent	SNP	T	TCGA-41-3392-01A-01D-1495-08	2630446	206760184	42490437	8	17137											
IRF6	3664	broad.mit.edu	37	1	209963984	209963984	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:209963984C>T	uc001hhq.2	-	6	1220	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	IRF6_uc010psm.2_Missense_Mutation_p.V211I	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	306					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGACCGCTGACCTCCAGGATC	0.532										HNSCC(57;0.16)			T	209963984	C	T	209963984	3	4	246	1	0	0	0	0	1	0	0	0	7834	507	18	3	499	3	IRF6	1	209963984	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	3203800	209963984	39286637	9	17138											
OR2T12	127064	broad.mit.edu	37	1	248458187	248458187	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:248458187G>A	uc010pzj.2	-	0	694	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCCTTCTTGCGGGCTTCTGTA	0.522													A	248458187	G	A	248458187	3	1	246	1	0	0	0	0	1	0	0	0	11019	1116	39	2	271	2	OR2T12	1	248458187	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	38494203	248458187	792434	10	17139											
NBAS	51594	broad.mit.edu	37	2	15615941	15615941	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:15615941G>A	uc002rcc.1	-	13	1237	c.1211C>T	c.(1210-1212)gCt>gTt	p.A404V	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	404										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						AGAGCATCGAGCTAAAGTCAC	0.398													A	15615941	G	A	15615941	3	1	246	1	0	0	0	0	1	0	0	0	10186	971	34	3	6060	3	NBAS	2	15615941	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		15615941	227583432	11	17140											
WDR92	116143	broad.mit.edu	37	2	68358402	68358402	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:68358402C>G	uc002see.1	-	7	1123	c.1042G>C	c.(1042-1044)Gta>Cta	p.V348L	WDR92_uc002sed.1_Intron	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	Homo sapiens WD repeat domain 92 (WDR92), mRNA.	348					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						ACGATCAGTACTCTCACCGTT	0.478													G	68358402	C	G	68358402	3	3	246	1	0	0	0	0	1	0	0	0	17336	565	20	5	35	5	WDR92	2	68358402	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	52742461	68358402	174840971	12	17141											
TTC31	64427	broad.mit.edu	37	2	74710499	74710499	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:74710499C>T	uc002slt.2	+	1	114	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	TTC31_uc002sls.2_5'UTR|TTC31_uc002slu.2_5'UTR|CCDC142_uc002slo.3_5'Flank|CCDC142_uc002slq.3_5'Flank|CCDC142_uc002slr.3_5'Flank|CCDC142_uc002slp.2_5'Flank	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	31							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGCACCCAAACTTTGCAAGGA	0.582											OREG0014719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74710499	C	T	74710499	3	4	246	1	0	0	0	0	1	0	0	0	16697	565	20	3	97	3	TTC31	2	74710499	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	6352097	74710499	168488874	13	17142											
RAB3GAP1	22930	broad.mit.edu	37	2	135890504	135890504	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:135890504G>C	uc010fnf.3	+	13	1319	c.1276G>C	c.(1276-1278)Gga>Cga	p.G426R	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.G426R|RAB3GAP1_uc010fng.3_Missense_Mutation_p.G251R|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	426						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACCATTAGATGGAACTACTTC	0.308													C	135890504	G	C	135890504	3	2	246	1	0	0	0	0	1	0	0	0	12935	1349	47	5	1330	5	RAB3GAP1	2	135890504	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	61180005	135890504	107308869	14	17143											
NEB	4703	broad.mit.edu	37	2	152580858	152580858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:152580858C>T	uc021vrb.1	-	5	557	c.528G>A	c.(526-528)tgG>tgA	p.W176*	NEB_uc002txu.3_Nonsense_Mutation_p.W176*|NEB_uc021vrc.1_Nonsense_Mutation_p.W176*|NEB_uc010fnx.3_Nonsense_Mutation_p.W176*|NEB_uc021vrd.1_Nonsense_Mutation_p.W176*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	176					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTGTCTTCCCAGTTCTGCT	0.493													T	152580858	C	T	152580858	4	4	246	1	0	0	0	0	0	1	0	0	10302	624	22	3	25858	3	NEB	2	152580858	Nonsense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	16690354	152580858	90618515	15	17144											
TTN	7273	broad.mit.edu	37	2	179610717	179610717	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:179610717C>T	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.M5470I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								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)			CAGAATCTCCCATGGTGAGGA	0.398													T	179610717	C	T	179610717	3	4	246	1	0	0	0	0	1	0	0	0	16732	594	21	3	93887	3	TTN	2	179610717	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	27029859	179610717	63588656	16	17145											
C2orf83	56918	broad.mit.edu	37	2	228476292	228476292	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:228476292T>A	uc002vph.3	-	2	506	c.271A>T	c.(271-273)Att>Ttt	p.I91F	C2orf83_uc010zlu.2_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.	91						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GCAGGGTGAATGAAGGTCAGC	0.517													A	228476292	T	A	228476292	3	1	246	1	0	0	0	0	1	0	0	0	2198	1464	51	5	185	5	C2orf83	2	228476292	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08	48865575	228476292	14723081	17	17146											
TADA3	10474	broad.mit.edu	37	3	9825867	9825867	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:9825867G>A	uc003bsx.1	-	7	1499	c.951C>T	c.(949-951)cgC>cgT	p.R317R	TADA3_uc010hcn.1_Silent_p.R317R|TADA3_uc003bsy.3_Silent_p.R317R|TADA3_uc003bsw.1_Silent_p.R146R	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	317					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCTCCTTGATGCGGCTCTCCA	0.622													A	9825867	G	A	9825867	2	1	246	1	0	0	0	0	0	0	0	1	15509	1306	46	3		3	TADA3	3	9825867	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08		9825867	188196563	18	17147											
PLCL2	23228	broad.mit.edu	37	3	17052411	17052411	+	Missense_Mutation	SNP	A	A	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:17052411A>T	uc011awc.2	+	2	1645	c.1549A>T	c.(1549-1551)Att>Ttt	p.I517F	PLCL2_uc010het.1_Missense_Mutation_p.H126L|PLCL2_uc011awd.2_Missense_Mutation_p.I399F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	525	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCACTGTTCCATTAAACAACA	0.373													T	17052411	A	T	17052411	3	4	246	1	0	0	0	0	1	0	0	0	12040	217	8	5	1573	5	PLCL2	3	17052411	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	7226544	17052411	180970019	19	17148											
SEC22C	9117	broad.mit.edu	37	3	42602655	42602655	+	Silent	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:42602655C>G	uc003clj.3	-	3	690	c.480G>C	c.(478-480)gtG>gtC	p.V160V	SEC22C_uc003clh.3_Silent_p.V160V|SEC22C_uc010hic.3_Silent_p.V160V|SEC22C_uc011azo.2_Silent_p.V90V|SEC22C_uc003cli.3_Silent_p.V160V	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.	160					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CCCCATTTGCCACATCTGTGT	0.468													G	42602655	C	G	42602655	2	3	246	1	0	0	0	0	0	0	0	1	13990	581	21	5		5	SEC22C	3	42602655	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	25550244	42602655	155419775	20	17149											
ARIH2	10425	broad.mit.edu	37	3	48965232	48965232	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:48965232G>T	uc003cvb.3	+	2	553	c.241G>T	c.(241-243)Gct>Tct	p.A81S	ARIH2_uc003cvc.3_Missense_Mutation_p.A81S|ARIH2_uc003cvf.3_5'UTR|ARIH2_uc010hkl.3_Missense_Mutation_p.A81S|ARIH2_uc003cvd.1_Missense_Mutation_p.A81S|ARIH2_uc003cve.1_Missense_Mutation_p.A81S	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	81					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GACCAGCTTAGCTTCTGTCCT	0.483													T	48965232	G	T	48965232	3	4	246	1	0	0	0	0	1	0	0	0	924	971	34	5	243	5	ARIH2	3	48965232	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	6362577	48965232	149057198	21	17150											
ROBO2	6092	broad.mit.edu	37	3	77147196	77147196	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:77147196G>A	uc011bgk.2	+	1	736	c.93G>A	c.(91-93)ccG>ccA	p.P31P	ROBO2_uc021xat.1_Silent_p.P47P|ROBO2_uc003dpy.4_Silent_p.P31P|ROBO2_uc003dpz.3_Silent_p.P31P|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	31	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTTTCCCCCGCGGATTGTGG	0.537													A	77147196	G	A	77147196	2	1	246	1	0	0	0	0	0	0	0	1	13514	1087	38	1		1	ROBO2	3	77147196	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	28181964	77147196	120875234	22	17151											
ADCY5	111	broad.mit.edu	37	3	123036910	123036910	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:123036910C>T	uc003egh.2	-	10	2311	c.2311G>A	c.(2311-2313)Gtc>Atc	p.V771I	ADCY5_uc021xdd.1_Missense_Mutation_p.V421I|ADCY5_uc003egg.2_Missense_Mutation_p.V404I|ADCY5_uc003egi.1_Missense_Mutation_p.V330I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	771					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGAGGAAGACGAGCGAGGCA	0.602													T	123036910	C	T	123036910	3	4	246	1	0	0	0	0	1	0	0	0	297	536	19	1	1518	1	ADCY5	3	123036910	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	45889714	123036910	74985520	23	17152											
TNFSF10	8743	broad.mit.edu	37	3	172241153	172241153	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:172241153C>A	uc003fid.3	-	0	145	c.22G>T	c.(22-24)Ggg>Tgg	p.G8W	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.G8W|TNFSF10_uc010hwu.2_Missense_Mutation_p.G8W	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	8					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGGGTCCCCCCTGGACCTCC	0.527													A	172241153	C	A	172241153	3	1	246	1	0	0	0	0	1	0	0	0	16298	623	22	5	843	5	TNFSF10	3	172241153	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	49204243	172241153	25781277	24	17153											
MUC4	4585	broad.mit.edu	37	3	195516064	195516064	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:195516064C>T	uc021xjp.1	-	1	2543	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.R678Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	801	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.R796Q(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)		TGAGGTGGTTCGTGACCCTGA	0.602													T	195516064	C	T	195516064	3	4	246	1	0	0	0	0	1	0	0	0	9978	884	31	2		2	MUC4	3	195516064	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	23274911	195516064	2506366	25	17154											
SH3TC1	54436	broad.mit.edu	37	4	8233729	8233729	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:8233729T>A	uc003gkv.4	+	12	3078	c.2977T>A	c.(2977-2979)Tgc>Agc	p.C993S	SH3TC1_uc003gkw.4_Missense_Mutation_p.C917S|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	993							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCAGCGGCTGTGCCACTTCTA	0.642													A	8233729	T	A	8233729	3	1	246	1	0	0	0	0	1	0	0	0	14261	1696	59	5	3023	5	SH3TC1	4	8233729	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08		8233729	182920547	26	17155											
CPEB2	132864	broad.mit.edu	37	4	15060838	15060838	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:15060838G>A	uc003gnk.2	+	9	2608	c.2608G>A	c.(2608-2610)Gat>Aat	p.D870N	CPEB2_uc003gnl.2_Missense_Mutation_p.D843N|CPEB2_uc003gnm.2_Missense_Mutation_p.D840N|CPEB2_uc003gni.2_Missense_Mutation_p.D862N|CPEB2_uc003gnn.2_Missense_Mutation_p.D835N|CPEB2_uc003gnj.2_Missense_Mutation_p.D832N	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	425					regulation of translation	cytoplasm	nucleotide binding|RNA binding	p.D425H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAATTTAAGTGATAGTGATTT	0.373													A	15060838	G	A	15060838	3	1	246	1	0	0	0	0	1	0	0	0	3801	1290	45	3	2655	3	CPEB2	4	15060838	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	6827109	15060838	176093438	27	17156											
GABRA4	2557	broad.mit.edu	37	4	46979123	46979123	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:46979123C>T	uc003gxg.3	-	4	1515	c.532G>A	c.(532-534)Gat>Aat	p.D178N	GABRA4_uc021xnz.1_Missense_Mutation_p.D159N|GABRA4_uc021xoa.1_Missense_Mutation_p.D159N	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	178					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V177V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGGGAAAATCCACCAATCTC	0.333													T	46979123	C	T	46979123	3	4	246	1	0	0	0	0	1	0	0	0	6163	855	30	3	1152	3	GABRA4	4	46979123	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	31918285	46979123	144175153	28	17157											
SLC10A4	201780	broad.mit.edu	37	4	48490671	48490671	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:48490671C>T	uc003gyc.2	+	2	1248	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	ZAR1_uc003gyd.3_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	343						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATGTGCAGCTCTGTACAGCCA	0.473													T	48490671	C	T	48490671	2	4	246	1	0	0	0	0	0	0	0	1	14376	900	32	3		3	SLC10A4	4	48490671	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	1511548	48490671	142663605	29	17158											
DNAH5	1767	broad.mit.edu	37	5	13886073	13886073	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:13886073C>T	uc003jfd.2	-	18	2785	c.2743_splice	c.e18+1	p.A915_splice		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	915	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)					CATCTCTTACCTGAACTTTCA	0.289									Kartagener syndrome				T	13886073	C	T	13886073	3	4	246	1	0	0	0	0	1	0	0	0	4604	695	24	3	11379	3	DNAH5	5	13886073	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		13886073	167029187	30	17159											
CD14	929	broad.mit.edu	37	5	140012230	140012230	+	Silent	SNP	T	T	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140012230T>A	uc003lgi.2	-	1	718	c.339A>T	c.(337-339)ctA>ctT	p.L113L	CD14_uc003lgj.2_Silent_p.L113L|CD14_uc021yej.1_Silent_p.L113L|CD14_uc021yek.1_Silent_p.L113L|CD14_uc021yel.1_5'UTR	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	113					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGTACGCTAGCACACGCA	0.622													A	140012230	T	A	140012230	2	1	246	1	0	0	0	0	0	0	0	1	2964	1509	53	5		5	CD14	5	140012230	Silent	SNP	T	TCGA-41-3392-01A-01D-1495-08	126126157	140012230	40903030	31	17160											
PCDHAC2	56147	broad.mit.edu	37	5	140166089	140166089	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140166089A>G	uc003lhb.2	+	0	214	c.214A>G	c.(214-216)Agg>Ggg	p.R72G	PCDHAC2_uc003lha.2_Missense_Mutation_p.R72G|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R72G	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	87	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAACACACAGGGACCTTCT	0.592													G	140166089	A	G	140166089	3	3	246	1	0	0	0	0	1	0	0	0	11533	179	7	4		4	PCDHAC2	5	140166089	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	153859	140166089	40749171	32	17161											
PCDHAC2	56136	broad.mit.edu	37	5	140263838	140263838	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140263838C>T	uc003lif.2	+	0	1985	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.T662M|PCDHAC2_uc003lid.3_Missense_Mutation_p.T662M	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	673	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T662M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGGCCACGGCAACGGTG	0.701													T	140263838	C	T	140263838	3	4	246	1	0	0	0	0	1	0	0	0	11533	536	19	1		1	PCDHAC2	5	140263838	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	97749	140263838	40651422	33	17162											
ODZ2	57451	broad.mit.edu	37	5	167420177	167420177	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:167420177G>A	uc010jjd.3	+	4	1176	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	ODZ2_uc021yhi.1_Silent_p.A322A|ODZ2_uc003lzq.2_Silent_p.A271A|ODZ2_uc003lzr.4_Silent_p.A201A	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTTTGCTGGCGTATTTCATAG	0.537													A	167420177	G	A	167420177	2	1	246	1	0	0	0	0	0	0	0	1	10835	1132	40	1		1	ODZ2	5	167420177	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	27156339	167420177	13495083	34	17163											
SLIT3	6586	broad.mit.edu	37	5	168149967	168149967	+	Silent	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:168149967G>T	uc010jjg.3	-	21	2802	c.2382C>A	c.(2380-2382)acC>acA	p.T794T	SLIT3_uc003mab.3_Silent_p.T794T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	794					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			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)			TGTTACTGAAGGTGTAATTGG	0.478													T	168149967	G	T	168149967	2	4	246	1	0	0	0	0	0	0	0	1	14741	987	35	5		5	SLIT3	5	168149967	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	729790	168149967	12765293	35	17164											
MAS1L	116511	broad.mit.edu	37	6	29455303	29455303	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:29455303G>A	uc011dlq.2	-	0	377	c.377C>T	c.(376-378)tCg>tTg	p.S126L		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	126						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCCCACTGCCGAGCAGCAAAG	0.502													A	29455303	G	A	29455303	3	1	246	1	0	0	0	0	1	0	0	0	9321	1059	37	2	761	2	MAS1L	6	29455303	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		29455303	141659764	36	17165											
SKIV2L	6499	broad.mit.edu	37	6	31937127	31937127	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:31937127C>T	uc003nyn.1	+	26	3859	c.3470C>T	c.(3469-3471)aCg>aTg	p.T1157M	SKIV2L_uc011dou.1_Missense_Mutation_p.T999M|SKIV2L_uc011dov.1_Missense_Mutation_p.T964M|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1157						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGAACCAGACGGTGGAGGAA	0.557													T	31937127	C	T	31937127	3	4	246	1	0	0	0	0	1	0	0	0	14359	536	19	1	3576	1	SKIV2L	6	31937127	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	2481824	31937127	139177940	37	17166											
NOTCH4	4855	broad.mit.edu	37	6	32165183	32165183	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:32165183C>T	uc003obb.3	-	26	5084	c.4945G>A	c.(4945-4947)Gct>Act	p.A1649T	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Missense_Mutation_p.A58T|NOTCH4_uc003oba.3_Missense_Mutation_p.A309T|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.A58T	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1649					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			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						CGGCGGGCAGCGGTTGGCCGG	0.697													T	32165183	C	T	32165183	3	4	246	1	0	0	0	0	1	0	0	0	10551	768	27	1	1082	1	NOTCH4	6	32165183	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	228056	32165183	138949884	38	17167											
CD164	8763	broad.mit.edu	37	6	109690088	109690088	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:109690088C>A	uc003pte.3	-	5	741	c.560G>T	c.(559-561)tGc>tTc	p.C187F	CD164_uc003ptd.3_Intron|CD164_uc003ptf.3_Missense_Mutation_p.C168F|CD164_uc011eap.2_Intron|CD164_uc010kdn.3_Missense_Mutation_p.C174F	NM_006016	NP_006007	Q04900	MUC24_HUMAN	Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA.	187					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		TTTAGATTTGCAGAATTTATA	0.383													A	109690088	C	A	109690088	3	1	246	1	0	0	0	0	1	0	0	0	2969	710	25	5	88	5	CD164	6	109690088	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	77524905	109690088	61424979	39	17168											
ROS1	6098	broad.mit.edu	37	6	117686282	117686282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:117686282delG	uc003pxp.1	-	19	3258	c.3059delC	c.(3058-3060)cctfs	p.P1020fs	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1020	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTAGGTATAAGGAGTGACAGA	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								-	117686282	G	-	117686282	7	5	246	1	0	1	0	1	0	0	0	0	13531	1000	35	0	4080	0	ROS1	6	117686282	Frame_Shift_Del	DEL	G	TCGA-41-3392-01A-01D-1495-08	7996194	117686282	53428785	40	17169											
LFNG	3955	broad.mit.edu	37	7	2559902	2559902	+	Frame_Shift_Del	DEL	C	C	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:2559902delC	uc003smf.3	+	0	424	c.407delC	c.(406-408)accfs	p.T136fs	LFNG_uc021zyw.1_Intron|LFNG_uc021zyx.1_Intron|LFNG_uc003smg.3_Frame_Shift_Del_p.T136fs	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	136					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CTGCTGGAGACCTGGATCTCG	0.706													-	2559902	C	-	2559902	7	5	246	1	0	1	0	1	0	0	0	0	8737	507	18	0	685	0	LFNG	7	2559902	Frame_Shift_Del	DEL	C	TCGA-41-3392-01A-01D-1495-08		2559902	156578761	41	17170											
DYNC1I1	1780	broad.mit.edu	37	7	95664970	95664970	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:95664970G>A	uc003uoc.4	+	12	1598	c.1321G>A	c.(1321-1323)Gct>Act	p.A441T	DYNC1I1_uc003uod.4_Missense_Mutation_p.A424T|DYNC1I1_uc003uob.3_Missense_Mutation_p.A404T|DYNC1I1_uc003uoe.4_Missense_Mutation_p.A421T|DYNC1I1_uc010lfl.3_Missense_Mutation_p.A430T	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	441					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAAGCCTGTCGCTGTTACCGG	0.498													A	95664970	G	A	95664970	3	1	246	1	0	0	0	0	1	0	0	0	4842	1087	38	1	1367	1	DYNC1I1	7	95664970	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	93105068	95664970	63473693	42	17171											
RBM28	55131	broad.mit.edu	37	7	127964701	127964701	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:127964701G>A	uc003vmp.2	-	11	1365	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RBM28_uc011koj.1_Missense_Mutation_p.A276V|RBM28_uc011kok.1_Missense_Mutation_p.A364V	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	417	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	p.A417A(2)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACGGGTCACCGCCAAGTCAAC	0.552													A	127964701	G	A	127964701	3	1	246	1	0	0	0	0	1	0	0	0	13128	1087	38	1	1061	1	RBM28	7	127964701	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	32299731	127964701	31173962	43	17172											
AHCYL2	23382	broad.mit.edu	37	7	129040182	129040182	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:129040182G>A	uc011kov.2	+	5	938	c.875G>A	c.(874-876)tGt>tAt	p.C292Y	AHCYL2_uc003vot.3_Missense_Mutation_p.C291Y|AHCYL2_uc003vov.3_Missense_Mutation_p.C189Y|AHCYL2_uc011kox.2_Missense_Mutation_p.C189Y	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	292					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTTTGGTGGTGTATCGATAGA	0.463													A	129040182	G	A	129040182	3	1	246	1	0	0	0	0	1	0	0	0	411	1377	48	3	1019	3	AHCYL2	7	129040182	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	1075481	129040182	30098481	44	17173											
DPP6	1804	broad.mit.edu	37	7	154561187	154561187	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:154561187A>G	uc003wlk.3	+	8	1073	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	DPP6_uc003wli.3_Missense_Mutation_p.Y251C|DPP6_uc003wlm.3_Missense_Mutation_p.Y253C|DPP6_uc011kvq.2_Missense_Mutation_p.Y208C	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	315					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGACTCGCCTACGCCGCCATC	0.527													G	154561187	A	G	154561187	3	3	246	1	0	0	0	0	1	0	0	0	4730	391	14	4	1094	4	DPP6	7	154561187	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	25521005	154561187	4577476	45	17174											
ZFAT	57623	broad.mit.edu	37	8	135622736	135622736	+	Nonsense_Mutation	SNP	A	A	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr8:135622736A>T	uc003yup.3	-	3	797	c.611T>A	c.(610-612)tTa>tAa	p.L204*	ZFAT_uc003yun.3_Nonsense_Mutation_p.L192*|ZFAT_uc003yuo.3_Nonsense_Mutation_p.L192*|ZFAT_uc010meh.3_Nonsense_Mutation_p.L192*|ZFAT_uc010mej.3_Intron|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Nonsense_Mutation_p.L192*|ZFAT_uc003yur.3_Nonsense_Mutation_p.L192*	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGTGCAGTTAAAACCACACT	0.502													T	135622736	A	T	135622736	4	4	246	1	0	0	0	0	0	1	0	0	17629	372	13	5	3172	5	ZFAT	8	135622736	Nonsense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08		135622736	10741286	46	17175											
MORN5	254956	broad.mit.edu	37	9	124936831	124936831	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr9:124936831G>A	uc011lyn.2	+	3	426	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MORN5_uc011lyo.1_Silent_p.T84T|MORN5_uc004blw.2_Missense_Mutation_p.D122N	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	122								p.Y121Y(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						GGGCTATTACGATTGTGGAGA	0.463													A	124936831	G	A	124936831	3	1	246	1	0	0	0	0	1	0	0	0	9711	1058	37	2	378	2	MORN5	9	124936831	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		124936831	16276600	47	17176											
ADARB2	105	broad.mit.edu	37	10	1263025	1263025	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:1263025G>A	uc009xhq.3	-	6	1874	c.1548C>T	c.(1546-1548)cgC>cgT	p.R516R		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	516	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCAGGTGCCCGCGGAACTTCC	0.657													A	1263025	G	A	1263025	2	1	246	1	0	0	0	0	0	0	0	1	283	1074	38	1		1	ADARB2	10	1263025	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08		1263025	134271722	48	17177											
HPSE2	60495	broad.mit.edu	37	10	100249866	100249866	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:100249866G>T	uc001kpn.2	-	9	1481	c.1408C>A	c.(1408-1410)Cct>Act	p.P470T	HPSE2_uc009xwc.2_Missense_Mutation_p.P470T|HPSE2_uc001kpo.2_Missense_Mutation_p.P412T|HPSE2_uc009xwd.2_Missense_Mutation_p.P358T	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	470					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ACTCGGCCAGGCCGTGGCTTC	0.562													T	100249866	G	T	100249866	3	4	246	1	0	0	0	0	1	0	0	0	7345	1203	42	5	420	5	HPSE2	10	100249866	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	98986841	100249866	35284881	49	17178											
TPH1	7166	broad.mit.edu	37	11	18047154	18047154	+	Missense_Mutation	SNP	C	C	T	rs145855109	byFrequency	TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:18047154C>T	uc001mnp.2	-	6	924	c.898G>A	c.(898-900)Gct>Act	p.A300T	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	300					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCCTCTGAAGCGCCAAGAGAA	0.438													T	18047154	C	T	18047154	3	4	246	1	0	0	0	0	1	0	0	0	16398	768	27	1	452	1	TPH1	11	18047154	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		18047154	116959362	50	17179											
OR5B17	219965	broad.mit.edu	37	11	58126152	58126152	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:58126152T>C	uc010rke.2	-	0	391	c.391A>G	c.(391-393)Acc>Gcc	p.T131A		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGGTGGTGGTATAATGTAGG	0.448													C	58126152	T	C	58126152	3	2	246	1	0	0	0	0	1	0	0	0	11149	1638	57	4	555	4	OR5B17	11	58126152	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08	40078998	58126152	76880364	51	17180											
CD6	923	broad.mit.edu	37	11	60786743	60786743	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:60786743C>G	uc001nqq.3	+	12	2185	c.1960C>G	c.(1960-1962)Cct>Gct	p.P654A	CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.P587A|CD6_uc001nqt.3_Missense_Mutation_p.P578A	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	654					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGCCCTCAGCCTGACTCCAC	0.657													G	60786743	C	G	60786743	3	3	246	1	0	0	0	0	1	0	0	0	3028	739	26	5	2010	5	CD6	11	60786743	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	2660591	60786743	74219773	52	17181											
CALCOCO1	57658	broad.mit.edu	37	12	54117525	54117525	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:54117525C>T	uc001sef.3	-	3	446	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	CALCOCO1_uc010som.2_Intron|CALCOCO1_uc010son.2_5'UTR|CALCOCO1_uc009znd.3_Missense_Mutation_p.R101Q|CALCOCO1_uc001seg.3_Intron|CALCOCO1_uc001seh.2_Missense_Mutation_p.R101Q|CALCOCO1_uc010soo.1_Missense_Mutation_p.R94Q	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	101	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GTTCACATATCGGAACTGGTA	0.602													T	54117525	C	T	54117525	3	4	246	1	0	0	0	0	1	0	0	0	2577	884	31	2	1821	2	CALCOCO1	12	54117525	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		54117525	79734370	53	17182											
HOXC11	3227	broad.mit.edu	37	12	54369092	54369092	+	Silent	SNP	C	C	T	rs141170619		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:54369092C>T	uc001sem.3	+	1	926	c.810C>T	c.(808-810)aaC>aaT	p.N270N		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	270					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GGATGCTGAACCTGACGGACC	0.478			T	NUP98	AML								T	54369092	C	T	54369092	2	4	246	1	0	0	0	0	0	0	0	1	7310	506	18	3		3	HOXC11	12	54369092	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	251567	54369092	79482803	54	17183											
OR6C4	341418	broad.mit.edu	37	12	55945591	55945591	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:55945591A>G	uc010spp.2	+	0	581	c.581A>G	c.(580-582)gAa>gGa	p.E194G		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGCCTCTTAGAACTGATGGTC	0.468													G	55945591	A	G	55945591	3	3	246	1	0	0	0	0	1	0	0	0	11193	246	9	4	583	4	OR6C4	12	55945591	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	1576499	55945591	77906304	55	17184											
B4GALNT1	2583	broad.mit.edu	37	12	58020574	58020574	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:58020574G>A	uc001spg.1	-	10	1987	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	B4GALNT1_uc010sru.2_Missense_Mutation_p.R464W	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	519					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGAGCAGCCGGTGTTTGGCC	0.597													A	58020574	G	A	58020574	3	1	246	1	0	0	0	0	1	0	0	0	1266	1115	39	2	50	2	B4GALNT1	12	58020574	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	2074983	58020574	75831321	56	17185											
PHLDA1	22822	broad.mit.edu	37	12	76424413	76424413	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:76424413G>A	uc001sxu.3	-	0	1144	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	PHLDA1_uc021rax.1_Missense_Mutation_p.P370L	NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 1 (PHLDA1), mRNA.	370	14 X 2 AA repeats of P-H.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				atgcgggtgcgggtgagggtg	0.652													A	76424413	G	A	76424413	3	1	246	1	0	0	0	0	1	0	0	0	11848	1116	39	2	100	2	PHLDA1	12	76424413	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	18403839	76424413	57427482	57	17186											
ACACB	32	broad.mit.edu	37	12	109665288	109665288	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:109665288C>A	uc001tob.3	+	27	4114	c.3995C>A	c.(3994-3996)cCa>cAa	p.P1332Q	ACACB_uc001toc.3_Missense_Mutation_p.P1332Q|ACACB_uc010sxl.1_5'Flank|ACACB_uc001tod.3_5'Flank|ACACB_uc010sxm.2_5'Flank	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1332					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCCTCCCACCCAAACCGGTAT	0.587													A	109665288	C	A	109665288	3	1	246	1	0	0	0	0	1	0	0	0	107	594	21	5	4101	5	ACACB	12	109665288	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	33240875	109665288	24186607	58	17187											
C12orf51	283450	broad.mit.edu	37	12	112620944	112620944	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:112620944C>G	uc021reb.1	-	61	10900	c.10504G>C	c.(10504-10506)Gtg>Ctg	p.V3502L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						ACTACAGACACGGTTAGAATC	0.353													G	112620944	C	G	112620944	3	3	246	1	0	0	0	0	1	0	0	0	1696	536	19	5	2410	5	C12orf51	12	112620944	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	2955656	112620944	21230951	59	17188											
CLYBL	171425	broad.mit.edu	37	13	100425263	100425263	+	Missense_Mutation	SNP	A	A	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr13:100425263A>C	uc001vok.3	+	2	280	c.249_splice	c.e2+1	p.K83_splice	CLYBL_uc010tix.2_Splice_Site_p.K83_splice|CLYBL_uc010tiy.2_Splice_Site_p.K83_splice	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	83					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAACAAAAAGGTAATGGCA	0.383													C	100425263	A	C	100425263	3	2	246	1	0	0	0	0	1	0	0	0	3573	86	3	5	254	5	CLYBL	13	100425263	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08		100425263	14744615	60	17189											
OR11G2	390439	broad.mit.edu	37	14	20665689	20665689	+	Silent	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:20665689C>G	uc010tlb.2	+	0	195	c.195C>G	c.(193-195)ctC>ctG	p.L65L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGATCCTCCTCTTTGTGCTCT	0.552													G	20665689	C	G	20665689	2	3	246	1	0	0	0	0	0	0	0	1	10925	900	32	5		5	OR11G2	14	20665689	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08		20665689	86683851	61	17190											
ESR2	2100	broad.mit.edu	37	14	64723980	64723980	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:64723980C>T	uc001xha.1	-	5	1523	c.1055G>A	c.(1054-1056)gGc>gAc	p.G352D	ESR2_uc001xgy.2_Missense_Mutation_p.G352D|ESR2_uc001xgu.3_Missense_Mutation_p.G352D|ESR2_uc001xgv.3_Missense_Mutation_p.G352D|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Missense_Mutation_p.G352D|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Intron|ESR2_uc001xgz.2_Missense_Mutation_p.G352D|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	352	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.G352C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GATGAGCTTGCCGGGGTGGTC	0.488													T	64723980	C	T	64723980	3	4	246	1	0	0	0	0	1	0	0	0	5257	739	26	3	639	3	ESR2	14	64723980	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	44058291	64723980	42625560	62	17191											
PLEKHH1	57475	broad.mit.edu	37	14	68035891	68035891	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:68035891C>T	uc001xjl.1	+	7	1442	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	PLEKHH1_uc010tsw.1_Missense_Mutation_p.R2W|PLEKHH1_uc001xjm.1_5'Flank|PLEKHH1_uc001xjn.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	434						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATCGGGCATGCGGCTCTCAGA	0.592													T	68035891	C	T	68035891	3	4	246	1	0	0	0	0	1	0	0	0	12076	759	27	1	1326	1	PLEKHH1	14	68035891	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	3311911	68035891	39313649	63	17192											
ADAM20	8748	broad.mit.edu	37	14	70989515	70989515	+	Missense_Mutation	SNP	A	A	T	rs113965969		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:70989515A>T	uc021rvs.1	-	0	2110	c.2110T>A	c.(2110-2112)Tgc>Agc	p.C704S	ADAM20_uc001xme.3_Missense_Mutation_p.C704S	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	654					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCATGGTTGCAGTGACAGTGT	0.483													T	70989515	A	T	70989515	3	4	246	1	0	0	0	0	1	0	0	0	242	188	7	5	224	5	ADAM20	14	70989515	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	2953624	70989515	36360025	64	17193											
ACOT4	122970	broad.mit.edu	37	14	74058995	74058995	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:74058995G>A	uc001xoo.3	+	0	586	c.332G>A	c.(331-333)gGc>gAc	p.G111D		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	111					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GTGCTGGACGGCCACGACCCC	0.682													A	74058995	G	A	74058995	3	1	246	1	0	0	0	0	1	0	0	0	153	1203	42	3	334	3	ACOT4	14	74058995	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	3069480	74058995	33290545	65	17194											
HERC2	8924	broad.mit.edu	37	15	28514552	28514553	+	Frame_Shift_Ins	INS	-	-	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr15:28514552_28514553insC	uc001zbj.3	-	10	1393_1394	c.1287_1288insG	c.(1285-1290)gggttafs	p.G429fs	HERC2_uc001zbl.1_Frame_Shift_Ins_p.G124fs	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	429					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATCCTATTAACCCCCAACCTA	0.436													C	28514553	-	C	28514552	7	5	246	1	0	1	1	0	0	0	0	0	7058	40	2	0	13548	0	HERC2	15	28514552	Frame_Shift_Ins	INS	-	TCGA-41-3392-01A-01D-1495-08		28514552	74016840	66	17195											
RASGRF1	5923	broad.mit.edu	37	15	79296158	79296158	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr15:79296158G>A	uc002beq.3	-	15	2858	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	RASGRF1_uc002bep.3_Missense_Mutation_p.A812V|RASGRF1_uc010blm.1_Missense_Mutation_p.A737V|RASGRF1_uc002ber.4_Missense_Mutation_p.A812V|RASGRF1_uc010unh.1_Missense_Mutation_p.A223V|RASGRF1_uc002beo.3_Missense_Mutation_p.A44V	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	830					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.A828A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTGCTGAGCGCTGAAGGGTC	0.637													A	79296158	G	A	79296158	3	1	246	1	0	0	0	0	1	0	0	0	13072	1087	38	1	1390	1	RASGRF1	15	79296158	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	50781606	79296158	23235234	67	17196											
PHLPP2	23035	broad.mit.edu	37	16	71689260	71689260	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr16:71689260C>T	uc002fax.3	-	15	2474	c.2468G>A	c.(2467-2469)cGa>cAa	p.R823Q	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.R756Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	823	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.R823R(1)|p.R823*(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTCCTCATTTCGGTCTCCATC	0.483													T	71689260	C	T	71689260	3	4	246	1	0	0	0	0	1	0	0	0	11855	884	31	2	1515	2	PHLPP2	16	71689260	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		71689260	18665493	68	17197											
CDH15	1013	broad.mit.edu	37	16	89256722	89256722	+	Silent	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr16:89256722G>A	uc002fmt.3	+	7	1127	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	350	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGCTGCAGGCGGCTGCCCTTA	0.637													A	89256722	G	A	89256722	2	1	246	1	0	0	0	0	0	0	0	1	3100	1103	39	2		2	CDH15	16	89256722	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	17567462	89256722	1098031	69	17198											
NF1	4763	broad.mit.edu	37	17	29550520	29550543	+	In_Frame_Del	DEL	ACAGAAATTCTCAAGTGGTTGCGG	ACAGAAATTCTCAAGTGGTTGCGG	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG	uc002hgg.3	+	15	2163_2186	c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	c.(1780-1803)acagaaattctcaagtggttgcggdel	p.TEILKWLR594del	NF1_uc002hgh.3_In_Frame_Del_p.TEILKWLR594del|NF1_uc010csn.2_In_Frame_Del_p.TEILKWLR454del|NF1_uc002hgi.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	594					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.W599*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGGAAATATTGA	0.312			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29550543	ACAGAAATTCTCAAGTGGTTGCGG	-	29550520	7	5	246	1	0	1	0	1	0	0	0	0	10356	159	6	0	1903	0	NF1	17	29550520	In_Frame_Del	DEL	ACAGAAATTCTCAAGTGGTTGCGG	TCGA-41-3392-01A-01D-1495-08		29550520	51644690	70	17199											
CARD14	79092	broad.mit.edu	37	17	78157817	78157817	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:78157817G>A	uc002jxw.1	+	3	649	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.R152Q|CARD14_uc010wud.1_Non-coding_Transcript	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	152					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCTGCGGCGGTGCCAGCAG	0.667													A	78157817	G	A	78157817	3	1	246	1	0	0	0	0	1	0	0	0	2646	1116	39	2	465	2	CARD14	17	78157817	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	48607297	78157817	3037393	71	17200											
BAIAP2	10458	broad.mit.edu	37	17	79080620	79080620	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:79080620C>T	uc002jzg.2	+	11	1521	c.1413C>T	c.(1411-1413)taC>taT	p.Y471Y	BAIAP2_uc002jyz.4_Silent_p.Y471Y|BAIAP2_uc002jza.2_Silent_p.Y471Y|BAIAP2_uc002jzc.2_Silent_p.Y472Y|BAIAP2_uc002jzb.2_Silent_p.Y228Y|BAIAP2_uc010wuh.1_Silent_p.Y393Y|BAIAP2_uc002jzd.2_Silent_p.Y471Y|BAIAP2_uc002jzf.2_Silent_p.Y471Y|BAIAP2_uc002jze.2_Silent_p.Y504Y|BAIAP2_uc002jzh.2_Silent_p.Y472Y|BAIAP2_uc010wui.2_Silent_p.Y334Y	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	471					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCCCCGATTACGGCGCCGCCT	0.697													T	79080620	C	T	79080620	2	4	246	1	0	0	0	0	0	0	0	1	1301	547	19	1		1	BAIAP2	17	79080620	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	922803	79080620	2114590	72	17201											
FECH	2235	broad.mit.edu	37	18	55230200	55230200	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr18:55230200T>C	uc002lgq.4	-	5	728	c.611A>G	c.(610-612)aAt>aGt	p.N204S	FECH_uc002lgp.4_Missense_Mutation_p.N210S|FECH_uc002lgr.4_Missense_Mutation_p.N62S	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	204					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GTAAATGGCATTTAAGCTGCT	0.408													C	55230200	T	C	55230200	3	2	246	1	0	0	0	0	1	0	0	0	5808	1493	52	4	684	4	FECH	18	55230200	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08		55230200	22847048	73	17202											
ZNF236	7776	broad.mit.edu	37	18	74635065	74635065	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr18:74635065G>A	uc002lmi.3	+	20	3788	c.3590G>A	c.(3589-3591)tGt>tAt	p.C1197Y	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1197					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCATACAAATGTGATGAATGT	0.368													A	74635065	G	A	74635065	3	1	246	1	0	0	0	0	1	0	0	0	17786	1377	48	3	3672	3	ZNF236	18	74635065	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	19404865	74635065	3442183	74	17203											
PLIN4	729359	broad.mit.edu	37	19	4511216	4511216	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:4511216G>T	uc002mar.1	-	2	2714	c.2714C>A	c.(2713-2715)aCc>aAc	p.T905N	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	905	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTCTTGCTGGTGTCCACGCC	0.577													T	4511216	G	T	4511216	3	4	246	1	0	0	0	0	1	0	0	0	12092	1261	44	5	1375	5	PLIN4	19	4511216	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		4511216	54617767	75	17204											
CYP4F8	11283	broad.mit.edu	37	19	15728930	15728930	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:15728930C>T	uc002nbi.3	+	2	382	c.318C>T	c.(316-318)atC>atT	p.I106I	CYP4F8_uc010xoi.1_Silent_p.I106I|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	106					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACCCTGACATCGTCCGATCTG	0.567													T	15728930	C	T	15728930	2	4	246	1	0	0	0	0	0	0	0	1	4191	874	31	2		2	CYP4F8	19	15728930	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	11217714	15728930	43400053	76	17205											
KCNA7	3743	broad.mit.edu	37	19	49573469	49573469	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:49573469C>T	uc002pmg.3	-	1	1578	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	408						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCAGCCTCTTCGCCCTCTGTC	0.597													T	49573469	C	T	49573469	3	4	246	1	0	0	0	0	1	0	0	0	8008	893	31	2	152	2	KCNA7	19	49573469	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	33844539	49573469	9555514	77	17206											
RPL13A	23521	broad.mit.edu	37	19	49994303	49994303	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:49994303C>T	uc002pny.3	+	5	371	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	RPL13A_uc002pnz.3_Missense_Mutation_p.R56W|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACAGAAAAAGCGGATGGTGGT	0.562													T	49994303	C	T	49994303	3	4	246	1	0	0	0	0	1	0	0	0	13560	759	27	1	371	1	RPL13A	19	49994303	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	420834	49994303	9134680	78	17207											
PRPF31	26121	broad.mit.edu	37	19	54627985	54627985	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:54627985C>T	uc002qdh.2	+	7	1201	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	PRPF31_uc010yek.1_Missense_Mutation_p.P269S|PRPF31_uc021vbi.1_Missense_Mutation_p.P269S	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	269	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCAGTGCTGCCCCACACCGG	0.672													T	54627985	C	T	54627985	3	4	246	1	0	0	0	0	1	0	0	0	12566	739	26	3	831	3	PRPF31	19	54627985	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	4633682	54627985	4500998	79	17208											
PPP1R12C	54776	broad.mit.edu	37	19	55603589	55603589	+	Splice_Site	SNP	C	C	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:55603589C>G	uc002qix.3	-	19	2176	c.2160_splice	c.e19+1	p.Q720_splice	PPP1R12C_uc010yfs.2_Splice_Site_p.Q645_splice|PPP1R12C_uc002qiy.3_Splice_Site_p.Q718_splice	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	720						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGCGCCCTTACCTGCGTGGCC	0.721													G	55603589	C	G	55603589	5	3	246	1	0	0	0	0	0	0	1	0	12356	521	18	5	203	5	PPP1R12C	19	55603589	Splice_Site	SNP	C	TCGA-41-3392-01A-01D-1495-08	975604	55603589	3525394	80	17209											
PTPRT	11122	broad.mit.edu	37	20	41100999	41100999	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr20:41100999G>A	uc002xkg.3	-	7	1541	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	PTPRT_uc010ggj.3_Missense_Mutation_p.R453C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	453	Fibronectin type-III 2.		R -> C (in a gastric cancer).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGAAGGGGCGCAGGCCTCGC	0.607													A	41100999	G	A	41100999	3	1	246	1	0	0	0	0	1	0	0	0	12812	1087	38	1	3125	1	PTPRT	20	41100999	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		41100999	21924521	81	17210											
SLC13A3	64849	broad.mit.edu	37	20	45204315	45204315	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr20:45204315G>C	uc002xsf.2	-	9	1269	c.1229C>G	c.(1228-1230)aCa>aGa	p.T410R	SLC13A3_uc010ghn.2_Missense_Mutation_p.T379R|SLC13A3_uc010zxx.2_Missense_Mutation_p.T312R|SLC13A3_uc010zxw.2_Missense_Mutation_p.T360R|SLC13A3_uc002xsg.2_Missense_Mutation_p.T363R|SLC13A3_uc010gho.2_Missense_Mutation_p.T328R|SLC13A3_uc010zxv.2_Intron	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	410						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTCTGTCTCTGTGTTGGGAGC	0.622													C	45204315	G	C	45204315	3	2	246	1	0	0	0	0	1	0	0	0	14393	1377	48	5	595	5	SLC13A3	20	45204315	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	4103316	45204315	17821205	82	17211											
KRTAP10-1	386677	broad.mit.edu	37	21	45959481	45959481	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr21:45959481C>T	uc002zfh.1	-	0	598	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	185	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CGGACGGGCACGCAGCAGGCC	0.627													T	45959481	C	T	45959481	3	4	246	1	0	0	0	0	1	0	0	0	8505	536	19	1	299	1	KRTAP10-1	21	45959481	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		45959481	2170414	83	17212											
RIMBP3	85376	broad.mit.edu	37	22	20458153	20458153	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:20458153G>A	uc002zsd.4	-	0	3634	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCGGTAGTGCGTGCCGGGGCA	0.642													A	20458153	G	A	20458153	3	1	246	1	0	0	0	0	1	0	0	0	13364	1145	40	1	1774	1	RIMBP3	22	20458153	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		20458153	30846413	84	17213											
CABIN1	23523	broad.mit.edu	37	22	24439394	24439394	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:24439394A>G	uc002zzi.1	+	5	501	c.374A>G	c.(373-375)aAc>aGc	p.N125S	CABIN1_uc021wnc.1_Missense_Mutation_p.N125S|CABIN1_uc002zzj.1_Missense_Mutation_p.N125S|CABIN1_uc002zzl.2_Missense_Mutation_p.N125S|CABIN1_uc010guk.1_Missense_Mutation_p.N80S|CABIN1_uc002zzk.2_Missense_Mutation_p.N80S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	125					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACAGATGTCAACCTCTGGTAT	0.557													G	24439394	A	G	24439394	3	3	246	1	0	0	0	0	1	0	0	0	2528	43	2	4	392	4	CABIN1	22	24439394	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	3981241	24439394	26865172	85	17214											
MAPK8IP2	23542	broad.mit.edu	37	22	51042339	51042340	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:51042339_51042340delGC	uc003bmx.3	+	4	728_729	c.611_612delGC	c.(610-612)tgcfs	p.C204fs	MAPK8IP2_uc003bmy.3_Frame_Shift_Del_p.C177fs|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	204	JNK-binding domain (JBD).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCCCGGGTTGCGACTGCGAAG	0.743													-	51042340	GC	-	51042339	7	5	246	1	0	1	0	1	0	0	0	0	9285	1319	46	0	719	0	MAPK8IP2	22	51042339	Frame_Shift_Del	DEL	GC	TCGA-41-3392-01A-01D-1495-08	26602945	51042339	262227	86	17215											
XKRX	402415	broad.mit.edu	37	X	100169504	100169504	+	Silent	SNP	A	A	G			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chrX:100169504A>G	uc004egn.2	-	2	1778	c.1173T>C	c.(1171-1173)taT>taC	p.Y391Y	XKRX_uc011mre.1_Silent_p.Y187Y	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	391						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TGGAAATCAGATAAGCAATAA	0.403													G	100169504	A	G	100169504	2	3	246	1	0	0	0	0	0	0	0	1	17436	340	12	4		4	XKRX	23	100169504	Silent	SNP	A	TCGA-41-3392-01A-01D-1495-08		100169504	55101056	87	17216											
SLITRK4	139065	broad.mit.edu	37	X	142718880	142718880	+	Silent	SNP	C	C	T			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chrX:142718880C>T	uc022cfm.1	-	0	45	c.45G>A	c.(43-45)tcG>tcA	p.S15S	SLITRK4_uc022cfl.1_Silent_p.S15S|SLITRK4_uc004fbx.3_Silent_p.S15S|SLITRK4_uc004fby.3_Silent_p.S15S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	15						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCATTTGTCGAAGAAATCA	0.388													T	142718880	C	T	142718880	2	4	246	1	0	0	0	0	0	0	0	1	14745	871	31	2		2	SLITRK4	23	142718880	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	42549376	142718880	12551680	88	17217											
MEGF6	1953	broad.mit.edu	37	1	3412515	3412515	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:3412515G>A	uc001akl.3	-	29	4037	c.3810C>T	c.(3808-3810)tgC>tgT	p.C1270C	MEGF6_uc001akk.3_Silent_p.C1035C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1270	EGF-like 23.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCACAGGGTCGCAGGCCGCCC	0.706													A	3412515	G	A	3412515	2	1	247	1	0	0	0	0	0	0	0	1	9462	1079	38	1		1	MEGF6	1	3412515	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08		3412515	245838106	1	17218											
BARHL2	343472	broad.mit.edu	37	1	91182336	91182336	+	Silent	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:91182336C>T	uc001dns.3	-	0	459	c.417G>A	c.(415-417)acG>acA	p.T139T		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	139						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AAAAAGAAGACGTGGAAGTCC	0.657													T	91182336	C	T	91182336	2	4	247	1	0	0	0	0	0	0	0	1	1314	523	19	1		1	BARHL2	1	91182336	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	87769821	91182336	158068285	2	17219											
SLC6A17	388662	broad.mit.edu	37	1	110735165	110735165	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:110735165G>A	uc009wfq.3	+	7	1605	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	SLC6A17_uc001dze.1_5'UTR	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	382					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TAACACCAACGTCCTGAGCCG	0.537													A	110735165	G	A	110735165	3	1	247	1	0	0	0	0	1	0	0	0	14680	1145	40	1	1170	1	SLC6A17	1	110735165	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	19552829	110735165	138515456	3	17220											
RFX5	5993	broad.mit.edu	37	1	151315095	151315095	+	Nonsense_Mutation	SNP	G	G	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:151315095G>C	uc001exv.1	-	10	1632	c.1418C>G	c.(1417-1419)tCa>tGa	p.S473*	RFX5_uc001exw.1_Nonsense_Mutation_p.S473*|RFX5_uc010pcx.1_Nonsense_Mutation_p.S433*	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	473						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			ACTTCCACCTGACTTTTTTCG	0.547													C	151315095	G	C	151315095	4	2	247	1	0	0	0	0	0	1	0	0	13266	1294	45	5	436	5	RFX5	1	151315095	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	40579930	151315095	97935526	4	17221											
IL20	50604	broad.mit.edu	37	1	207039922	207039922	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:207039922C>T	uc001her.3	+	2	363	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	IL20_uc009xby.3_Missense_Mutation_p.R107W	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	107			R -> Q (in dbSNP:rs35856950).		positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TTATACTCTCCGGAAGATCAG	0.512													T	207039922	C	T	207039922	3	4	247	1	0	0	0	0	1	0	0	0	7667	643	23	2	329	2	IL20	1	207039922	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	55724827	207039922	42210699	5	17222											
OBSCN	84033	broad.mit.edu	37	1	228557666	228557666	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:228557666C>T	uc009xez.1	+	90	20035	c.19991C>T	c.(19990-19992)gCc>gTc	p.A6664V	OBSCN_uc001hsr.1_Missense_Mutation_p.A1293V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6664	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCCATTTGCCGGCGAGAGT	0.632													T	228557666	C	T	228557666	3	4	247	1	0	0	0	0	1	0	0	0	10812	739	26	3	21559	3	OBSCN	1	228557666	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	21517744	228557666	20692955	6	17223											
ZP4	57829	broad.mit.edu	37	1	238050155	238050155	+	Missense_Mutation	SNP	C	C	T	rs148891266	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:238050155C>T	uc001hym.3	-	5	1042	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	252	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)			ATATACTGCTCGGTCTCCAGT	0.473													T	238050155	C	T	238050155	3	4	247	1	0	0	0	0	1	0	0	0	18215	884	31	2	895	2	ZP4	1	238050155	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	9492489	238050155	11200466	7	17224											
KCNH7	90134	broad.mit.edu	37	2	163253351	163253351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:163253351G>A	uc002uch.2	-	10	2741	c.2512C>T	c.(2512-2514)Cga>Tga	p.R838*		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	838					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAGTCTTCTCGCTGAATCTTA	0.383													A	163253351	G	A	163253351	4	1	247	1	0	0	0	0	0	1	0	0	8037	1095	38	1	1102	1	KCNH7	2	163253351	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		163253351	79946022	8	17225											
TTC21B	79809	broad.mit.edu	37	2	166799848	166799848	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:166799848G>T	uc002udk.3	-	4	566	c.433C>A	c.(433-435)Cac>Aac	p.H145N	TTC21B_uc002udl.3_Missense_Mutation_p.H145N|LOC100506134_uc021vsa.1_Intron|LOC100506134_uc002udm.2_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	145						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTCAAAACGTGTCCCTGTAAA	0.313													T	166799848	G	T	166799848	3	4	247	1	0	0	0	0	1	0	0	0	16685	1377	48	5	3617	5	TTC21B	2	166799848	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	3546497	166799848	76399525	9	17226											
SDPR	8436	broad.mit.edu	37	2	192700730	192700730	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:192700730G>A	uc002utb.3	-	1	1552	c.1197C>T	c.(1195-1197)taC>taT	p.Y399Y		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	399						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATGTTAGCGCGTAGCTACCCT	0.612													A	192700730	G	A	192700730	2	1	247	1	0	0	0	0	0	0	0	1	13970	1140	40	1		1	SDPR	2	192700730	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	25900882	192700730	50498643	10	17227											
DNAH12	201625	broad.mit.edu	37	3	57488121	57488121	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:57488121C>A	uc003dit.2	-	9	1353	c.1172G>T	c.(1171-1173)tGg>tTg	p.W391L	DNAH12_uc003diu.2_Missense_Mutation_p.W391L	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	391	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATCAACAGCCCAGTGTAACAC	0.393													A	57488121	C	A	57488121	3	1	247	1	0	0	0	0	1	0	0	0	4600	595	21	5	8349	5	DNAH12	3	57488121	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		57488121	140534309	11	17228											
UBA5	79876	broad.mit.edu	37	3	132390695	132390695	+	Silent	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:132390695T>C	uc003epa.4	+	6	896	c.654T>C	c.(652-654)ctT>ctC	p.L218L	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Silent_p.L162L|UBA5_uc003epb.4_Silent_p.L162L	NM_024818	NP_938143	Q9GZZ9	UBA5_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA.	218					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATATACAGCTTATAATTCCTG	0.368													C	132390695	T	C	132390695	2	2	247	1	0	0	0	0	0	0	0	1	16827	1741	61	4		4	UBA5	3	132390695	Silent	SNP	T	TCGA-41-3393-01A-01D-1353-08	74902574	132390695	65631735	12	17229											
PRR23B	389151	broad.mit.edu	37	3	138739151	138739151	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:138739151G>A	uc003esy.1	-	0	618	c.353C>T	c.(352-354)tCg>tTg	p.S118L		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	118										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGGCAGACGAGTCGTGCTG	0.632													A	138739151	G	A	138739151	3	1	247	1	0	0	0	0	1	0	0	0	12595	1059	37	2	448	2	PRR23B	3	138739151	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	6348456	138739151	59283279	13	17230											
B3GALNT1	8706	broad.mit.edu	37	3	160803715	160803715	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:160803715T>A	uc003fdv.3	-	4	1247	c.828A>T	c.(826-828)ttA>ttT	p.L276F	B3GALNT1_uc003fdw.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdx.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdy.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdz.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fea.3_Missense_Mutation_p.L276F|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.L276F	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	276					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			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)			TCACTTTTAATAAATTCAAAC	0.363													A	160803715	T	A	160803715	3	1	247	1	0	0	0	0	1	0	0	0	1245	1403	49	5	171	5	B3GALNT1	3	160803715	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	22064564	160803715	37218715	14	17231											
MUC4	4585	broad.mit.edu	37	3	195509188	195509188	+	Missense_Mutation	SNP	G	G	A	rs71291868		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:195509188G>A	uc021xjp.1	-	1	9419	c.9263C>T	c.(9262-9264)cCt>cTt	p.P3088L	MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	829					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		GACAGGAAGAGGGGTGGCGTG	0.592													A	195509188	G	A	195509188	3	1	247	1	0	0	0	0	1	0	0	0	9978	1000	35	3		3	MUC4	3	195509188	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	34705473	195509188	2513242	15	17232											
NCBP2	22916	broad.mit.edu	37	3	196664454	196664454	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:196664454C>T	uc003fxd.1	-	2	416	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	NCBP2_uc003fxb.1_Missense_Mutation_p.R39Q|NCBP2_uc011btz.1_Missense_Mutation_p.R91Q|NCBP2_uc003fxc.1_Non-coding_Transcript|NCBP2_uc003fxe.1_Missense_Mutation_p.R56Q|NCBP2_uc003fxf.3_3'UTR	NM_007362	NP_031388	P52298	NCBP2_HUMAN	Homo sapiens nuclear cap binding protein subunit 2, 20kDa (NCBP2), transcript variant 1, mRNA.	109	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		GCGAATGATTCGGTCATCCAG	0.527													T	196664454	C	T	196664454	3	4	247	1	0	0	0	0	1	0	0	0	10212	884	31	2	152	2	NCBP2	3	196664454	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	1155266	196664454	1357976	16	17233											
CSN2	1447	broad.mit.edu	37	4	70822070	70822070	+	Nonstop_Mutation	SNP	A	A	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:70822070A>G	uc003hes.4	-	5	692	c.679T>C	c.(679-681)Taa>Caa	p.*227Q	CSN2_uc003het.4_Nonstop_Mutation_p.*226Q	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	0					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AAATCTTCTTAGACCTTAAAA	0.269													G	70822070	A	G	70822070	4	3	247	1	0	0	0	0	0	0	0	0	3948	433	15	4	5	4	CSN2	4	70822070	Nonstop_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08		70822070	120332206	17	17234											
ALB	213	broad.mit.edu	37	4	74279142	74279142	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:74279142C>G	uc003hgs.4	+	7	922	c.849C>G	c.(847-849)gaC>gaG	p.D283E	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.D91E|ALB_uc011cbf.2_Missense_Mutation_p.D173E	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	283	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TATAGGCGGACCTTGCCAAGT	0.393													G	74279142	C	G	74279142	3	3	247	1	0	0	0	0	1	0	0	0	486	506	18	5	879	5	ALB	4	74279142	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	3457072	74279142	116875134	18	17235											
AFM	173	broad.mit.edu	37	4	74354363	74354363	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:74354363A>G	uc003hhb.3	+	6	761	c.730A>G	c.(730-732)Agt>Ggt	p.S244G		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	244	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCGATACTCAGTCAAAAATT	0.343													G	74354363	A	G	74354363	3	3	247	1	0	0	0	0	1	0	0	0	361	188	7	4	756	4	AFM	4	74354363	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	75221	74354363	116799913	19	17236											
MMRN1	22915	broad.mit.edu	37	4	90874191	90874191	+	Missense_Mutation	SNP	T	T	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:90874191T>G	uc003hst.3	+	7	3380	c.3309T>G	c.(3307-3309)ttT>ttG	p.F1103L	MMRN1_uc010iku.3_Missense_Mutation_p.F406L|MMRN1_uc011cds.2_Missense_Mutation_p.F845L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1103	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				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)		TGGTGGCATTTTTTGCATCTC	0.338													G	90874191	T	G	90874191	3	3	247	1	0	0	0	0	1	0	0	0	9670	1838	64	5	3339	5	MMRN1	4	90874191	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	16519828	90874191	100280085	20	17237											
KLKB1	3818	broad.mit.edu	37	4	187157968	187157968	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:187157968T>A	uc003iyy.3	+	4	433	c.362T>A	c.(361-363)aTg>aAg	p.M121K	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.M83K	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	121	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGAGTTGATATGAGAGGAGTC	0.378													A	187157968	T	A	187157968	3	1	247	1	0	0	0	0	1	0	0	0	8412	1464	51	5	376	5	KLKB1	4	187157968	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	96283777	187157968	3996308	21	17238											
SH3TC2	79628	broad.mit.edu	37	5	148417964	148417964	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr5:148417964C>T	uc003lpu.3	-	7	1047	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.G292S|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.G184S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	299	SH3.						binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAAAGCCGATGATCTCA	0.473													T	148417964	C	T	148417964	3	4	247	1	0	0	0	0	1	0	0	0	14262	652	23	2	3011	2	SH3TC2	5	148417964	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		148417964	32497296	22	17239											
OR2J3	442186	broad.mit.edu	37	6	29080039	29080039	+	Silent	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:29080039C>T	uc011dll.2	+	0	372	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTCCTATGACCGTTATGCAG	0.488													T	29080039	C	T	29080039	2	4	247	1	0	0	0	0	0	0	0	1	11004	506	18	3		3	OR2J3	6	29080039	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08		29080039	142035028	23	17240											
TNXB	7148	broad.mit.edu	37	6	32041532	32041532	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:32041532G>A	uc003nzl.2	-	11	4775	c.4573C>T	c.(4573-4575)Cga>Tga	p.R1525*		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1612	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGACCTCTCGCTGGTCTGCC	0.567													A	32041532	G	A	32041532	4	1	247	1	0	0	0	0	0	1	0	0	16343	1095	38	1	10272	1	TNXB	6	32041532	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	2961493	32041532	139073535	24	17241											
C6orf89	221477	broad.mit.edu	37	6	36891125	36891125	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:36891125T>A	uc003omw.3	+	7	1136	c.973T>A	c.(973-975)Tat>Aat	p.Y325N	C6orf89_uc003omv.3_Missense_Mutation_p.Y212N|C6orf89_uc003omx.3_Missense_Mutation_p.Y318N|C6orf89_uc011dtr.2_Missense_Mutation_p.Y212N	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	318						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CCCTCAAGGCTATGTCGACAC	0.552													A	36891125	T	A	36891125	3	1	247	1	0	0	0	0	1	0	0	0	2373	1522	53	5	1003	5	C6orf89	6	36891125	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	4849593	36891125	134223942	25	17242											
AOAH	313	broad.mit.edu	37	7	36616236	36616236	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:36616236C>T	uc022abu.1	-	12	1366	c.965G>A	c.(964-966)cGc>cAc	p.R322H	AOAH_uc003tfh.4_Missense_Mutation_p.R322H|AOAH_uc011kba.2_Missense_Mutation_p.R290H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	322					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.R322C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTTCCATAAGCGAAGGTAAAT	0.303													T	36616236	C	T	36616236	3	4	247	1	0	0	0	0	1	0	0	0	726	768	27	1	1139	1	AOAH	7	36616236	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		36616236	122522427	26	17243											
HECW1	23072	broad.mit.edu	37	7	43484236	43484236	+	Nonsense_Mutation	SNP	G	G	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:43484236G>T	uc003tid.1	+	10	2070	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	HECW1_uc011kbi.1_Nonsense_Mutation_p.E489*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	489	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCCTTGGAGGAGGAAGCAAC	0.632													T	43484236	G	T	43484236	4	4	247	1	0	0	0	0	0	1	0	0	7042	1175	41	5	1499	5	HECW1	7	43484236	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	6868000	43484236	115654427	27	17244											
DDC	1644	broad.mit.edu	37	7	50534977	50534977	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:50534977G>A	uc003tpg.4	-	12	1378	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	DDC_uc022ade.1_Missense_Mutation_p.R315C|DDC_uc003tpf.4_Missense_Mutation_p.R393C|DDC_uc022adb.1_Missense_Mutation_p.R355C|DDC_uc022adc.1_Missense_Mutation_p.R345C|DDC_uc022add.1_Missense_Mutation_p.R300C	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	393					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGATCCTGGCGCACCAGTGAC	0.433													A	50534977	G	A	50534977	3	1	247	1	0	0	0	0	1	0	0	0	4325	1087	38	1	273	1	DDC	7	50534977	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	7050741	50534977	108603686	28	17245											
DDC	1644	broad.mit.edu	37	7	50607722	50607722	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:50607722G>A	uc003tpg.4	-	2	407	c.206C>T	c.(205-207)aCg>aTg	p.T69M	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Missense_Mutation_p.T69M|DDC_uc022adb.1_Intron|DDC_uc022adc.1_Missense_Mutation_p.T69M|DDC_uc022add.1_Missense_Mutation_p.T69M|DDC_uc022adf.1_Missense_Mutation_p.T69M|LOC100129427_uc022adg.1_Non-coding_Transcript	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	69	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.T69M(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GTGCCAGTGCGTCACCTGCAT	0.647													A	50607722	G	A	50607722	3	1	247	1	0	0	0	0	1	0	0	0	4325	1145	40	1	1284	1	DDC	7	50607722	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	72745	50607722	108530941	29	17246											
SEMA3D	223117	broad.mit.edu	37	7	84727157	84727157	+	Silent	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:84727157T>C	uc003uic.3	-	1	316	c.276A>G	c.(274-276)ctA>ctG	p.L92L	SEMA3D_uc010led.3_Silent_p.L92L|SEMA3D_uc010lee.1_Silent_p.L92L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	92	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCAGACTGAGTAGAAAGATGT	0.363													C	84727157	T	C	84727157	2	2	247	1	0	0	0	0	0	0	0	1	14027	1625	57	4		4	SEMA3D	7	84727157	Silent	SNP	T	TCGA-41-3393-01A-01D-1353-08	34119435	84727157	74411506	30	17247											
ADAM22	53616	broad.mit.edu	37	7	87774461	87774461	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:87774461G>A	uc003ujn.3	+	15	1557	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	ADAM22_uc003ujk.2_Missense_Mutation_p.G448S|ADAM22_uc003ujl.2_Missense_Mutation_p.G448S|ADAM22_uc003ujm.3_Missense_Mutation_p.G448S|ADAM22_uc003ujo.3_Missense_Mutation_p.G448S|ADAM22_uc003ujp.1_Missense_Mutation_p.G500S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	448	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTGAGTGTGGCAATGGCTT	0.408													A	87774461	G	A	87774461	3	1	247	1	0	0	0	0	1	0	0	0	244	1348	47	3	1404	3	ADAM22	7	87774461	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	3047304	87774461	71364202	31	17248											
ZC3HAV1	56829	broad.mit.edu	37	7	138764823	138764823	+	Silent	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:138764823C>T	uc003vun.3	-	3	1252	c.864G>A	c.(862-864)gcG>gcA	p.A288A	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Silent_p.A288A	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	288					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CGTCCACAGGCGCGTCCTCCA	0.587													T	138764823	C	T	138764823	2	4	247	1	0	0	0	0	0	0	0	1	17572	755	27	1		1	ZC3HAV1	7	138764823	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	50990362	138764823	20373840	32	17249											
MKRN1	23608	broad.mit.edu	37	7	140154505	140154505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:140154505C>A	uc003vvt.2	-	7	1486	c.1261G>T	c.(1261-1263)Gaa>Taa	p.E421*	MKRN1_uc003vvs.2_Nonsense_Mutation_p.E357*|MKRN1_uc011krd.1_Nonsense_Mutation_p.E155*	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	421							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TCAATGAGTTCCCAGAAGTGG	0.468													A	140154505	C	A	140154505	4	1	247	1	0	0	0	0	0	1	0	0	9606	864	30	5	191	5	MKRN1	7	140154505	Nonsense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	1389682	140154505	18984158	33	17250											
PIWIL2	55124	broad.mit.edu	37	8	22165552	22165552	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr8:22165552G>A	uc003xbn.2	+	13	1800	c.1652G>A	c.(1651-1653)cGt>cAt	p.R551H	PIWIL2_uc011kzf.1_Missense_Mutation_p.R551H|PIWIL2_uc010ltv.2_Missense_Mutation_p.R551H	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	551					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GAACTGATGCGTTGGGGGCTC	0.453													A	22165552	G	A	22165552	3	1	247	1	0	0	0	0	1	0	0	0	11958	1145	40	1	1702	1	PIWIL2	8	22165552	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		22165552	124198470	34	17251											
ADAM28	10863	broad.mit.edu	37	8	24181517	24181517	+	Splice_Site	SNP	G	G	A	rs138768775		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr8:24181517G>A	uc003xdy.3	+	9	973	c.890_splice	c.e9+1	p.T297_splice	ADAM28_uc003xdx.3_Splice_Site_p.T297_splice|ADAM28_uc011kzz.2_Splice_Site_p.T64_splice|ADAM28_uc011laa.2_Splice_Site|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	297	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTTAATCACGTATGTACAGA	0.423													A	24181517	G	A	24181517	5	1	247	1	0	0	0	0	0	0	1	0	246	1159	40	1	925	1	ADAM28	8	24181517	Splice_Site	SNP	G	TCGA-41-3393-01A-01D-1353-08	2015965	24181517	122182505	35	17252											
PTGR1	22949	broad.mit.edu	37	9	114332377	114332377	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:114332377G>A	uc010mue.3	-	8	1136	c.873C>T	c.(871-873)gtC>gtT	p.V291V	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.2_Silent_p.V291V|PTGR1_uc004bfh.2_Silent_p.V291V|PTGR1_uc004bfi.3_Silent_p.V291V|PTGR1_uc004bfj.3_Silent_p.V168V	NM_001146109	NP_001139581	Q14914	PTGR1_HUMAN	Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.	291					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TTACCTCTAAGACCCATTTCA	0.498													A	114332377	G	A	114332377	2	1	247	1	0	0	0	0	0	0	0	1	12753	929	33	3		3	PTGR1	9	114332377	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08		114332377	26881054	36	17253											
TPRN	286262	broad.mit.edu	37	9	140086667	140086667	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:140086667C>T	uc004clt.3	-	2	2117	c.2117G>A	c.(2116-2118)cGg>cAg	p.R706Q	TPRN_uc004clu.3_Intron	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	691					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TGGGCTCGCCCGGGTGTCAGA	0.662													T	140086667	C	T	140086667	3	4	247	1	0	0	0	0	1	0	0	0	16418	652	23	2	106	2	TPRN	9	140086667	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	25754290	140086667	1126764	37	17254											
CACNA1B	774	broad.mit.edu	37	9	141012527	141012527	+	Silent	SNP	A	A	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:141012527A>T	uc004cog.3	+	41	6046	c.5901A>T	c.(5899-5901)ggA>ggT	p.G1967G	CACNA1B_uc022bqn.1_Silent_p.G1967G|CACNA1B_uc004coi.3_Silent_p.G1181G	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1969					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCGGTCAGGAGCACTGGTGA	0.642													T	141012527	A	T	141012527	2	4	247	1	0	0	0	0	0	0	0	1	2539	291	11	5		5	CACNA1B	9	141012527	Silent	SNP	A	TCGA-41-3393-01A-01D-1353-08	925860	141012527	200904	38	17255											
TNKS2	80351	broad.mit.edu	37	10	93579732	93579732	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr10:93579732G>A	uc001khp.3	+	5	967	c.670G>A	c.(670-672)Gta>Ata	p.V224I		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	224					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATATAACAGAGTAAAGATTGT	0.328													A	93579732	G	A	93579732	3	1	247	1	0	0	0	0	1	0	0	0	16318	1029	36	3	692	3	TNKS2	10	93579732	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		93579732	41955015	39	17256											
MKI67	4288	broad.mit.edu	37	10	129902650	129902650	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr10:129902650G>A	uc001lke.3	-	12	7649	c.7454C>T	c.(7453-7455)cCc>cTc	p.P2485L	MKI67_uc001lkf.3_Missense_Mutation_p.P2125L|MKI67_uc009yav.1_Missense_Mutation_p.P2060L|MKI67_uc009yaw.1_Missense_Mutation_p.P1635L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2485	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCACCAGGGGTATCTTGAG	0.473													A	129902650	G	A	129902650	3	1	247	1	0	0	0	0	1	0	0	0	9598	1232	43	3	2328	3	MKI67	10	129902650	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	36322918	129902650	5632097	40	17257											
MUC5B	727897	broad.mit.edu	37	11	1156635	1156635	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:1156635C>T	uc021qbr.1	+	5	699	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	214	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAACGGGATGCCCGTGGTCAG	0.612													T	1156635	C	T	1156635	3	4	247	1	0	0	0	0	1	0	0	0	9979	754	26	3		3	MUC5B	11	1156635	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		1156635	133849881	41	17258											
BIRC3	330	broad.mit.edu	37	11	102195409	102195409	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:102195409T>C	uc001pgx.3	+	1	2964	c.169T>C	c.(169-171)Tac>Cac	p.Y57H		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	57					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGGTTTCTATTACACTGGTGT	0.438			T	MALT1	MALT								C	102195409	T	C	102195409	3	2	247	1	0	0	0	0	1	0	0	0	1436	1754	61	4	171	4	BIRC3	11	102195409	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	101038774	102195409	32811107	42	17259											
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:128426243A>G	uc001qej.2	-	2	242	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L		NM_001143820	NP_001137292	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.	151	PNT.				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.F53F(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)		TCATCCCAAAAGGGGTAGCAA	0.448													G	128426243	A	G	128426243	3	3	247	1	0	0	0	0	1	0	0	0	5275	72	3	4	1418	4	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	26230834	128426243	6580273	43	17260											
KCNA5	3741	broad.mit.edu	37	12	5153876	5153876	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:5153876C>T	uc001qni.3	+	0	792	c.563C>T	c.(562-564)cCg>cTg	p.P188L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	188				RP -> G (in Ref. 1; AAA61276).		Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P188L(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CTGCGGAGGCCGGTCAACGTC	0.617													T	5153876	C	T	5153876	3	4	247	1	0	0	0	0	1	0	0	0	8006	652	23	2	565	2	KCNA5	12	5153876	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		5153876	128698019	44	17261											
SMARCD1	6602	broad.mit.edu	37	12	50484023	50484023	+	Splice_Site	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:50484023G>A	uc001rvx.4	+	8	1044	c.874_splice	c.e8-1	p.P292_splice	SMARCD1_uc001rvy.4_Splice_Site_p.P292_splice|SMARCD1_uc009zlp.3_Splice_Site_p.P251_splice	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA.	292	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|SWIB.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GTTCCCTGCAGCCTCCCCAGT	0.458													A	50484023	G	A	50484023	5	1	247	1	0	0	0	0	0	0	1	0	14777	985	34	3	903	3	SMARCD1	12	50484023	Splice_Site	SNP	G	TCGA-41-3393-01A-01D-1353-08	45330147	50484023	83367872	45	17262											
LACRT	90070	broad.mit.edu	37	12	55025622	55025622	+	Silent	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:55025622T>C	uc001sgi.1	-	4	292	c.254_splice	c.e4-1	p.K85_splice		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	85					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCACTATGGATTCTAATTTTG	0.468													C	55025622	T	C	55025622	2	2	247	1	0	0	0	0	0	0	0	1	8596	1507	52	4		4	LACRT	12	55025622	Silent	SNP	T	TCGA-41-3393-01A-01D-1353-08	4541599	55025622	78826273	46	17263											
MYF5	4617	broad.mit.edu	37	12	81111227	81111227	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:81111227C>T	uc001szg.2	+	0	520	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	129	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R129S(2)|p.R129C(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAATGCCATCCGCTACATCGA	0.587													T	81111227	C	T	81111227	3	4	247	1	0	0	0	0	1	0	0	0	10027	652	23	2	387	2	MYF5	12	81111227	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	26085605	81111227	52740668	47	17264											
TMEM132D	121256	broad.mit.edu	37	12	129558604	129558604	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:129558604G>A	uc009zyl.1	-	8	3444	c.3116C>T	c.(3115-3117)aCc>aTc	p.T1039I	TMEM132D_uc001uia.2_Missense_Mutation_p.T577I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1039						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)		CCTTTTTGAGGTAGGGGATGT	0.488													A	129558604	G	A	129558604	3	1	247	1	0	0	0	0	1	0	0	0	16044	1261	44	3	187	3	TMEM132D	12	129558604	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	48447377	129558604	4293291	48	17265											
HECTD1	25831	broad.mit.edu	37	14	31675061	31675061	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:31675061G>A	uc001wrc.1	-	1	571	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	HECTD1_uc001wre.3_Non-coding_Transcript	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	28					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGCTGTTCAAGGGCTATTAGT	0.428													A	31675061	G	A	31675061	3	1	247	1	0	0	0	0	1	0	0	0	7039	1000	35	3	7918	3	HECTD1	14	31675061	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		31675061	75674479	49	17266											
ARHGAP5	394	broad.mit.edu	37	14	32561946	32561946	+	Missense_Mutation	SNP	A	A	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:32561946A>T	uc001wrl.3	+	1	2310	c.2071A>T	c.(2071-2073)Atg>Ttg	p.M691L	ARHGAP5_uc001wrm.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	691					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGATAAATACATGGCTAATCT	0.358													T	32561946	A	T	32561946	3	4	247	1	0	0	0	0	1	0	0	0	886	217	8	5	2073	5	ARHGAP5	14	32561946	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	886885	32561946	74787594	50	17267											
DICER1	23405	broad.mit.edu	37	14	95590756	95590756	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:95590756G>A	uc001ydw.2	-	8	1365	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	DICER1_uc021sbc.1_Missense_Mutation_p.R385C|DICER1_uc001ydv.2_Missense_Mutation_p.R375C|DICER1_uc001ydx.2_Missense_Mutation_p.R385C	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	385	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTATATTTGCGTAAGATTTCG	0.378			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				A	95590756	G	A	95590756	3	1	247	1	0	0	0	0	1	0	0	0	4521	1145	40	1	4695	1	DICER1	14	95590756	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	63028810	95590756	11758784	51	17268											
GABRA5	2558	broad.mit.edu	37	15	27128491	27128491	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr15:27128491C>A	uc001zbd.2	+	5	816	c.284C>A	c.(283-285)aCc>aAc	p.T95N	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.T95N	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	95					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			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)	TAGGAGTACACCATAGACGTG	0.592													A	27128491	C	A	27128491	3	1	247	1	0	0	0	0	1	0	0	0	6164	507	18	5	298	5	GABRA5	15	27128491	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		27128491	75402901	52	17269											
ALPK3	57538	broad.mit.edu	37	15	85407896	85407896	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr15:85407896G>A	uc002ble.3	+	12	5496	c.5329_splice	c.e12+1	p.G1777_splice	ALPK3_uc010upc.2_Splice_Site_p.G78_splice	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1777	Alpha-type protein kinase.				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)			AGACTTGGCAGGTACGAGGGT	0.537													A	85407896	G	A	85407896	3	1	247	1	0	0	0	0	1	0	0	0	546	1014	35	3	5375	3	ALPK3	15	85407896	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	58279405	85407896	17123496	53	17270											
PLEKHG4	25894	broad.mit.edu	37	16	67318812	67318812	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr16:67318812C>T	uc010cef.3	+	12	2188	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	PLEKHG4_uc002eso.4_Missense_Mutation_p.A630V|PLEKHG4_uc002esp.4_Missense_Mutation_p.A437V|PLEKHG4_uc002esq.4_Missense_Mutation_p.A630V|PLEKHG4_uc002ess.4_Missense_Mutation_p.A630V|PLEKHG4_uc010ceg.3_Missense_Mutation_p.A549V	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	630					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGCCTGGGCGCGGTGCCAG	0.662													T	67318812	C	T	67318812	3	4	247	1	0	0	0	0	1	0	0	0	12071	768	27	1	1935	1	PLEKHG4	16	67318812	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		67318812	23035941	54	17271											
CCDC42	146849	broad.mit.edu	37	17	8638565	8638565	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr17:8638565C>T	uc002gln.3	-	5	949	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CCDC42_uc002glo.3_Missense_Mutation_p.R167H	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	241										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTGCGCCCAGCGAGATTCCTG	0.562													T	8638565	C	T	8638565	3	4	247	1	0	0	0	0	1	0	0	0	2814	768	27	1	236	1	CCDC42	17	8638565	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		8638565	72556645	55	17272											
CDC27	996	broad.mit.edu	37	17	45247352	45247352	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr17:45247352T>C	uc002ile.4	-	3	435	c.308A>G	c.(307-309)cAt>cGt	p.H103R	CDC27_uc002ild.4_Missense_Mutation_p.H103R|CDC27_uc002ilf.4_Missense_Mutation_p.H103R|CDC27_uc010wkp.2_Missense_Mutation_p.H42R|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	103					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	p.S102S(1)		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						AATATCATCATGGCTTTTCTG	0.308													C	45247352	T	C	45247352	3	2	247	1	0	0	0	0	1	0	0	0	3066	1464	51	4	2248	4	CDC27	17	45247352	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	36608787	45247352	35947858	56	17273											
ESCO1	114799	broad.mit.edu	37	18	19154087	19154087	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr18:19154087C>T	uc002kth.1	-	3	1652	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	240					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GTTACAGGCACAGGTTTCGTT	0.418													T	19154087	C	T	19154087	3	4	247	1	0	0	0	0	1	0	0	0	5248	478	17	3	1840	3	ESCO1	18	19154087	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		19154087	58923161	57	17274											
NETO1	81832	broad.mit.edu	37	18	70450913	70450913	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr18:70450913G>A	uc002lkw.3	-	7	1152	c.868_splice	c.e7+1	p.P290_splice	NETO1_uc002lky.2_Splice_Site_p.P290_splice	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	290					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATCTTACGTTCTTGAAAG	0.458													A	70450913	G	A	70450913	3	1	247	1	0	0	0	0	1	0	0	0	10339	1159	40	1	749	1	NETO1	18	70450913	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	51296826	70450913	7626335	58	17275											
MUC16	94025	broad.mit.edu	37	19	9088222	9088222	+	Missense_Mutation	SNP	G	G	A	rs145987902	by1000genomes	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:9088222G>A	uc002mkp.3	-	0	3797	c.3593C>T	c.(3592-3594)aCg>aTg	p.T1198M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1198	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						CAAGGAAGTCGTGGAAGGTAA	0.473													A	9088222	G	A	9088222	3	1	247	1	0	0	0	0	1	0	0	0	9973	1145	40	1	40266	1	MUC16	19	9088222	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		9088222	50040761	59	17276											
CPAMD8	27151	broad.mit.edu	37	19	17039895	17039895	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:17039895C>T	uc002nfb.3	-	23	3174	c.3142G>A	c.(3142-3144)Gtc>Atc	p.V1048I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1001						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.V1048I(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCCCCAGGACGATCTCGATC	0.607													T	17039895	C	T	17039895	3	4	247	1	0	0	0	0	1	0	0	0	3795	536	19	1	2732	1	CPAMD8	19	17039895	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	7951673	17039895	42089088	60	17277											
ZNF181	339318	broad.mit.edu	37	19	35232834	35232839	+	In_Frame_Del	DEL	ATATAA	ATATAA	-			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:35232834_35232839delATATAA	uc002nvu.3	+	3	2011_2016	c.1548_1553delATATAA	c.(1546-1554)ccatataaa>cca	p.YK517del	ZNF181_uc010xsb.1_In_Frame_Del_p.YK516del|ZNF181_uc010xsc.1_In_Frame_Del_p.YK452del	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAGAAAAGCCATATAAATGTAATGAG	0.388													-	35232839	ATATAA	-	35232834	7	5	247	1	0	1	0	1	0	0	0	0	17746	204	8	0	1562	0	ZNF181	19	35232834	In_Frame_Del	DEL	ATATAA	TCGA-41-3393-01A-01D-1353-08	18192939	35232834	23896149	61	17278											
UPK1A	11045	broad.mit.edu	37	19	36159540	36159540	+	Missense_Mutation	SNP	G	G	A	rs111275297		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:36159540G>A	uc010eeh.3	+	1	269	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	UPK1A_uc002oaw.3_Missense_Mutation_p.R90Q|BC007817_uc002oax.1_Missense_Mutation_p.R3W			O00322	UPK1A_HUMAN	Homo sapiens uroplakin 1A (UPK1A), mRNA.	90					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGCCGCCGGTCCATGGTC	0.592													A	36159540	G	A	36159540	3	1	247	1	0	0	0	0	1	0	0	0	17004	1116	39	2	275	2	UPK1A	19	36159540	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	926706	36159540	22969443	62	17279											
GPR77	27202	broad.mit.edu	37	19	47844750	47844750	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:47844750C>T	uc002pgk.1	+	1	765	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	GPR77_uc010ela.1_Missense_Mutation_p.R232W|GPR77_uc021uwn.1_Missense_Mutation_p.R232W	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	232					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	p.R232R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		CCGACGCTGCCGGCCGCTGGG	0.672													T	47844750	C	T	47844750	3	4	247	1	0	0	0	0	1	0	0	0	6709	643	23	2	696	2	GPR77	19	47844750	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	11685210	47844750	11284233	63	17280											
ELSPBP1	64100	broad.mit.edu	37	19	48519291	48519291	+	Missense_Mutation	SNP	C	C	T	rs145971035		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:48519291C>T	uc002pht.3	+	3	528	c.350C>T	c.(349-351)aCg>aTg	p.T117M		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	117	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TTCTGTGAAACGAATGGTGAG	0.552													T	48519291	C	T	48519291	3	4	247	1	0	0	0	0	1	0	0	0	5083	536	19	1	360	1	ELSPBP1	19	48519291	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	674541	48519291	10609692	64	17281											
DKKL1	27120	broad.mit.edu	37	19	49867863	49867863	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:49867863G>A	uc002pnk.3	+	1	249	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Missense_Mutation_p.R12Q	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	12					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CCCGCAAGGCGGCATCTGCTG	0.672													A	49867863	G	A	49867863	3	1	247	1	0	0	0	0	1	0	0	0	4548	1116	39	2	41	2	DKKL1	19	49867863	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	1348572	49867863	9261120	65	17282											
C19orf75	284369	broad.mit.edu	37	19	51768774	51768774	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:51768774T>A	uc002pwb.1	+	2	556	c.175T>A	c.(175-177)Tcc>Acc	p.S59T	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	59						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						CCAAGTGACTTCCACCATGCT	0.567													A	51768774	T	A	51768774	3	1	247	1	0	0	0	0	1	0	0	0	1949	1783	62	5	181	5	C19orf75	19	51768774	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	1900911	51768774	7360209	66	17283											
SIGLEC1	6614	broad.mit.edu	37	20	3674185	3674185	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:3674185G>A	uc002wja.3	-	12	3417	c.3417C>T	c.(3415-3417)gtC>gtT	p.V1139V	SIGLEC1_uc002wiz.4_Silent_p.V1139V|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1139	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCTGACTGTGACGTTGGGCA	0.657													A	3674185	G	A	3674185	2	1	247	1	0	0	0	0	0	0	0	1	14305	1277	45	3		3	SIGLEC1	20	3674185	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08		3674185	59351335	67	17284											
SRC	6714	broad.mit.edu	37	20	36026230	36026230	+	Missense_Mutation	SNP	C	C	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:36026230C>G	uc002xgx.3	+	8	1281	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	SRC_uc002xgy.3_Missense_Mutation_p.Q278E	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	278	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CAAGCTGGGCCAGGGCTGCTT	0.697													G	36026230	C	G	36026230	3	3	247	1	0	0	0	0	1	0	0	0	15133	595	21	5	854	5	SRC	20	36026230	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	32352045	36026230	26999290	68	17285											
PTPRT	11122	broad.mit.edu	37	20	40713368	40713368	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:40713368G>T	uc002xkg.3	-	28	4274	c.4090C>A	c.(4090-4092)Cag>Aag	p.Q1364K	PTPRT_uc010ggj.3_Missense_Mutation_p.Q1383K|PTPRT_uc010ggi.3_Missense_Mutation_p.Q567K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1364	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.A1364A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACTGCTCCTGCCACTTCTCC	0.597													T	40713368	G	T	40713368	3	4	247	1	0	0	0	0	1	0	0	0	12812	1328	46	5	247	5	PTPRT	20	40713368	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	4687138	40713368	22312152	69	17286											
DIDO1	11083	broad.mit.edu	37	20	61511189	61511189	+	Missense_Mutation	SNP	C	C	T	rs143474883		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:61511189C>T	uc002ydr.2	-	15	6431	c.6119G>A	c.(6118-6120)cGc>cAc	p.R2040H	DIDO1_uc002yds.2_Missense_Mutation_p.R2040H	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2040					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCTCCCAGCGGTCCTTCCG	0.741													T	61511189	C	T	61511189	3	4	247	1	0	0	0	0	1	0	0	0	4522	768	27	1	607	1	DIDO1	20	61511189	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	20797821	61511189	1514331	70	17287											
PRAME	23532	broad.mit.edu	37	22	22891015	22891015	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:22891015G>A	uc002zwf.3	-	4	1160	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.S319L|PRAME_uc010gtr.3_Missense_Mutation_p.S335L|PRAME_uc002zwg.3_Missense_Mutation_p.S335L|PRAME_uc002zwh.3_Missense_Mutation_p.S335L|PRAME_uc002zwi.3_Missense_Mutation_p.S335L|PRAME_uc002zwj.3_Missense_Mutation_p.S335L|PRAME_uc002zwk.3_Missense_Mutation_p.S335L	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	335					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATCCCCTTCCGAAAGCCGGCA	0.542													A	22891015	G	A	22891015	3	1	247	1	0	0	0	0	1	0	0	0	12424	1059	37	2	529	2	PRAME	22	22891015	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		22891015	28413551	71	17288											
ELFN2	114794	broad.mit.edu	37	22	37769438	37769438	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:37769438G>A	uc003asq.4	-	2	2923	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	ELFN2_uc021wph.1_Missense_Mutation_p.P713S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	713						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TACAGGGCGGGAAAGCTGTGC	0.711													A	37769438	G	A	37769438	3	1	247	1	0	0	0	0	1	0	0	0	5058	1174	41	3	329	3	ELFN2	22	37769438	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	14878423	37769438	13535128	72	17289											
ENTHD1	150350	broad.mit.edu	37	22	40283672	40283672	+	Silent	SNP	G	G	A	rs146928757		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:40283672G>A	uc003ayg.3	-	1	332	c.81C>T	c.(79-81)aaC>aaT	p.N27N		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	27	ENTH.							p.N27N(2)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCAAGGGTCGTTAGAAGTTG	0.398													A	40283672	G	A	40283672	2	1	247	1	0	0	0	0	0	0	0	1	5137	1136	40	1		1	ENTHD1	22	40283672	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	2514234	40283672	11020894	73	17290											
ARSA	410	broad.mit.edu	37	22	51063597	51063597	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:51063597G>A	uc003bna.4	-	7	1510	c.1248C>T	c.(1246-1248)tgC>tgT	p.C416C	ARSA_uc021wsd.1_Silent_p.C502C|ARSA_uc021wse.1_Silent_p.C502C|ARSA_uc021wsf.1_Silent_p.C502C|ARSA_uc003bmz.4_Silent_p.C500C	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	500						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CTGGGCAATGGCAGCAAGCTG	0.701													A	51063597	G	A	51063597	2	1	247	1	0	0	0	0	0	0	0	1	987	1195	42	3		3	ARSA	22	51063597	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	10779925	51063597	240969	74	17291											
IL3RA	3563	broad.mit.edu	37	X	1471117	1471117	+	Silent	SNP	C	C	T	rs142385163	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:1471117C>T	uc004cps.3	+	4	772	c.423C>T	c.(421-423)aaC>aaT	p.N141N	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Silent_p.N63N	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	141						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	TGTACTTGAACGTTGCCAAGT	0.647													T	1471117	C	T	1471117	2	4	247	1	0	0	0	0	0	0	0	1	7695	535	19	1		1	IL3RA	23	1471117	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08		1471117	153799443	75	17292											
ARSE	415	broad.mit.edu	37	X	2867414	2867414	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:2867414G>A	uc011mhh.2	-	6	1321	c.860C>T	c.(859-861)aCg>aTg	p.T287M	ARSE_uc011mhi.2_Missense_Mutation_p.T208M|ARSE_uc004crc.4_Missense_Mutation_p.T262M			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	262					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				GGGCTGCTCCGTGATGGTGTG	0.532													A	2867414	G	A	2867414	3	1	247	1	0	0	0	0	1	0	0	0	990	1145	40	1	1008	1	ARSE	23	2867414	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	1396297	2867414	152403146	76	17293											
GPR143	4935	broad.mit.edu	37	X	9693807	9693807	+	Silent	SNP	G	G	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:9693807G>C	uc004cst.2	-	8	1342	c.1194C>G	c.(1192-1194)ctC>ctG	p.L398L		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	398					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CATGGGTTGGGAGAGCAGGGT	0.473													C	9693807	G	C	9693807	2	2	247	1	0	0	0	0	0	0	0	1	6651	1161	41	5		5	GPR143	23	9693807	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	6826393	9693807	145576753	77	17294											
FRMPD4	9758	broad.mit.edu	37	X	12735884	12735884	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:12735884C>T	uc004cuz.2	+	15	3445	c.2939C>T	c.(2938-2940)cCg>cTg	p.P980L	FRMPD4_uc011mij.2_Missense_Mutation_p.P972L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	980					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACCGACCTCCCGCCCAAAGTT	0.572													T	12735884	C	T	12735884	3	4	247	1	0	0	0	0	1	0	0	0	6059	652	23	2	3001	2	FRMPD4	23	12735884	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	3042077	12735884	142534676	78	17295											
FTSJ1	24140	broad.mit.edu	37	X	48337447	48337447	+	Missense_Mutation	SNP	A	A	T	rs75296308	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:48337447A>T	uc004djo.1	+	4	627	c.304A>T	c.(304-306)Atc>Ttc	p.I102F	FTSJ1_uc004djn.1_Missense_Mutation_p.I102F|FTSJ1_uc011mlw.1_5'UTR	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	102					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CAAGGAGATCATCCAGCACTT	0.632													T	48337447	A	T	48337447	3	4	247	1	0	0	0	0	1	0	0	0	6087	217	8	5	318	5	FTSJ1	23	48337447	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	35601563	48337447	106933113	79	17296											
PORCN	64840	broad.mit.edu	37	X	48374470	48374470	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:48374470G>A	uc010nie.1	+	12	1267	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	PORCN_uc004djr.1_Missense_Mutation_p.R365Q|PORCN_uc004djs.1_Missense_Mutation_p.R359Q|PORCN_uc011mlx.1_Missense_Mutation_p.R288Q|PORCN_uc004dju.1_Missense_Mutation_p.R228Q|PORCN_uc004djv.1_Missense_Mutation_p.R370Q|PORCN_uc004djw.1_Missense_Mutation_p.R364Q	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	370					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTGGCTCGGATCCTCAGT	0.627													A	48374470	G	A	48374470	3	1	247	1	0	0	0	0	1	0	0	0	12258	1116	39	2	1155	2	PORCN	23	48374470	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	37023	48374470	106896090	80	17297											
TSR2	90121	broad.mit.edu	37	X	54467162	54467162	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:54467162G>A	uc004dte.3	+	1	123	c.121G>A	c.(121-123)Gag>Aag	p.E41K	TSR2_uc004dtf.3_Intron	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA.	41					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						GCACAGCCAGGAGAAGGCCAA	0.607													A	54467162	G	A	54467162	3	1	247	1	0	0	0	0	1	0	0	0	16662	1175	41	3	127	3	TSR2	23	54467162	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	6092692	54467162	100803398	81	17298											
ZC3H12B	340554	broad.mit.edu	37	X	64721735	64721735	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:64721735G>A	uc010nko.3	+	4	1224	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	375							endonuclease activity|nucleic acid binding|zinc ion binding	p.R236H(1)|p.R322H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCCCAGCGTTCGGTGGCT	0.532													A	64721735	G	A	64721735	3	1	247	1	0	0	0	0	1	0	0	0	17559	1145	40	1	1175	1	ZC3H12B	23	64721735	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	10254573	64721735	90548825	82	17299											
SLC7A3	84889	broad.mit.edu	37	X	70147393	70147393	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:70147393C>T	uc004dyn.3	-	6	1298	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	SLC7A3_uc004dyo.3_Missense_Mutation_p.R375Q	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	375					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGTGGATCCGAGCAAGTAC	0.577													T	70147393	C	T	70147393	3	4	247	1	0	0	0	0	1	0	0	0	14698	652	23	2	759	2	SLC7A3	23	70147393	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	5425658	70147393	85123167	83	17300											
RAB40A	142684	broad.mit.edu	37	X	102755508	102755508	+	Silent	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:102755508G>A	uc022cbs.1	-	0	177	c.177C>T	c.(175-177)gaC>gaT	p.D59D	RAB40A_uc004ekk.3_Silent_p.D59D	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	Homo sapiens RAB40A, member RAS oncogene family (RAB40A), mRNA.	59					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CCCGCTGGCCGTCCAGCAGGA	0.587													A	102755508	G	A	102755508	2	1	247	1	0	0	0	0	0	0	0	1	12939	1136	40	1		1	RAB40A	23	102755508	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	32608115	102755508	52515052	84	17301											
NRK	203447	broad.mit.edu	37	X	105179166	105179166	+	Silent	SNP	C	C	T	rs56273831		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:105179166C>T	uc004emd.3	+	20	3807	c.3504C>T	c.(3502-3504)taC>taT	p.Y1168Y	NRK_uc010npc.1_Silent_p.Y836Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1168							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y1168C(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTGCAGTATACGCTGGATTCG	0.383										HNSCC(51;0.14)			T	105179166	C	T	105179166	2	4	247	1	0	0	0	0	0	0	0	1	10655	547	19	1		1	NRK	23	105179166	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	2423658	105179166	50091394	85	17302											
RNF128	79589	broad.mit.edu	37	X	105970562	105970562	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:105970562C>T	uc004eml.3	+	0	669	c.419C>T	c.(418-420)gCg>gTg	p.A140V	RNF128_uc004emk.3_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	140	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GAGAGAGGGGCGTCTGGAGCC	0.597													T	105970562	C	T	105970562	3	4	247	1	0	0	0	0	1	0	0	0	13436	768	27	1	831	1	RNF128	23	105970562	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	791396	105970562	49299998	86	17303											
DOCK11	139818	broad.mit.edu	37	X	117748686	117748686	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:117748686T>C	uc004eqp.2	+	28	3191	c.3128T>C	c.(3127-3129)aTt>aCt	p.I1043T	DOCK11_uc004eqq.2_Missense_Mutation_p.I809T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1043					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGAGGATTTATTTTCAATTTA	0.299													C	117748686	T	C	117748686	3	2	247	1	0	0	0	0	1	0	0	0	4686	1493	52	4	3242	4	DOCK11	23	117748686	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	11778124	117748686	37521874	87	17304											
USP26	83844	broad.mit.edu	37	X	132161937	132161937	+	Silent	SNP	G	G	A	rs142413133	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:132161937G>A	uc011mvf.2	-	0	364	c.312C>T	c.(310-312)aaC>aaT	p.N104N	USP26_uc010nrm.1_Silent_p.N104N	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	104					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCTGAACCTCGTTTTGATGAA	0.383													A	132161937	G	A	132161937	2	1	247	1	0	0	0	0	0	0	0	1	17054	1136	40	1		1	USP26	23	132161937	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	14413251	132161937	23108623	88	17305											
ZNF75D	7626	broad.mit.edu	37	X	134426220	134426220	+	Silent	SNP	A	A	G			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:134426220A>G	uc022ceq.1	-	2	981	c.591T>C	c.(589-591)ccT>ccC	p.P197P	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	197					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTTCATATACAGGCTGGGTTT	0.463													G	134426220	A	G	134426220	2	3	247	1	0	0	0	0	0	0	0	1	18131	175	7	4		4	ZNF75D	23	134426220	Silent	SNP	A	TCGA-41-3393-01A-01D-1353-08	2264283	134426220	20844340	89	17306											
PASD1	139135	broad.mit.edu	37	X	150840069	150840069	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:150840069G>A	uc004fev.4	+	12	1587	c.1255G>A	c.(1255-1257)Gtt>Att	p.V419I		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	419						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATTACGCCACGTTGTCATTCC	0.498													A	150840069	G	A	150840069	3	1	247	1	0	0	0	0	1	0	0	0	11471	1145	40	1	1301	1	PASD1	23	150840069	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	16413849	150840069	4430491	90	17307											
TNFRSF4	7293	broad.mit.edu	37	1	1149428	1149428	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:1149428G>A	uc001adf.3	-	0					TNFRSF4_uc001ade.3_Missense_Mutation_p.T27M			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.						immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTGGAGCCCCGTCACGGTGCT	0.726													A	1149428	G	A	1149428	3	1	248	1	0	0	0	0	1	0	0	0	16294	1145	40	1	781	1	TNFRSF4	1	1149428	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		1149428	248101193	1	17308											
HP1BP3	50809	broad.mit.edu	37	1	21106920	21106921	+	Frame_Shift_Ins	INS	-	-	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:21106920_21106921insT	uc001bdy.1	-	0	113_114	c.13_14insA	c.(13-15)acgfs	p.T5fs	HP1BP3_uc001bdv.1_5'UTR|HP1BP3_uc001bdw.1_Frame_Shift_Ins_p.T5fs|HP1BP3_uc010odh.1_Intron|HP1BP3_uc001bea.2_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001beb.3_Frame_Shift_Ins_p.T5fs	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	5					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		ACCTTGAGACGTATCAGTCGCC	0.475													T	21106921	-	T	21106920	7	5	248	1	0	1	1	0	0	0	0	0	7328	1145	40	0	1695	0	HP1BP3	1	21106920	Frame_Shift_Ins	INS	-	TCGA-41-3915-01A-01D-1353-08	19957492	21106920	228143701	2	17309											
ARID1A	8289	broad.mit.edu	37	1	27092731	27092731	+	Missense_Mutation	SNP	A	A	G	rs141432631		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:27092731A>G	uc001bmv.1	+	8	3125	c.2752A>G	c.(2752-2754)Atg>Gtg	p.M918V	ARID1A_uc001bmt.1_Missense_Mutation_p.M918V|ARID1A_uc001bmu.1_Missense_Mutation_p.M918V|ARID1A_uc001bmw.1_Missense_Mutation_p.M535V	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	918					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACCCCAATATGAATCAAGG	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27092731	A	G	27092731	3	3	248	1	0	0	0	0	1	0	0	0	913	449	16	4	2786	4	ARID1A	1	27092731	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	5985811	27092731	222157890	3	17310											
RNF19B	127544	broad.mit.edu	37	1	33408041	33408042	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:33408041_33408042insGC	uc010oho.2	-	6	1424_1425	c.1424_1425insGC	c.(1423-1425)gccfs	p.A475fs	RNF19B_uc001bwm.4_Frame_Shift_Ins_p.A474fs|RNF19B_uc010ohp.2_Frame_Shift_Ins_p.A474fs	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	475						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATTCTTGAGGGCTCTCCAGGC	0.475													GC	33408042	-	GC	33408041	7	5	248	1	0	1	1	0	0	0	0	0	13471	1219	43	0	811	0	RNF19B	1	33408041	Frame_Shift_Ins	INS	-	TCGA-41-3915-01A-01D-1353-08	6315310	33408041	215842580	4	17311											
FAM159A	348378	broad.mit.edu	37	1	53099192	53099192	+	Silent	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:53099192G>C	uc001cuf.3	+	0	127	c.27G>C	c.(25-27)gtG>gtC	p.V9V	FAM159A_uc001cug.1_Non-coding_Transcript|FAM159A_uc001cuh.3_Non-coding_Transcript	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	9						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CGAGCTACGTGAGCGCAGAGC	0.751													C	53099192	G	C	53099192	2	2	248	1	0	0	0	0	0	0	0	1	5468	1277	45	5		5	FAM159A	1	53099192	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	19691151	53099192	196151429	5	17312											
WDR63	126820	broad.mit.edu	37	1	85559260	85559260	+	Missense_Mutation	SNP	A	A	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:85559260A>T	uc001dkt.3	+	8	1168	c.977A>T	c.(976-978)cAg>cTg	p.Q326L	WDR63_uc009wcl.3_Missense_Mutation_p.Q287L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	326										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAGAGTACCAGTCCTTTACC	0.438													T	85559260	A	T	85559260	3	4	248	1	0	0	0	0	1	0	0	0	17311	188	7	5	1007	5	WDR63	1	85559260	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	32460068	85559260	163691361	6	17313											
WDR63	126820	broad.mit.edu	37	1	85592202	85592202	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:85592202G>A	uc001dkt.3	+	19	2312	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	WDR63_uc009wcl.3_Silent_p.P668P	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	707										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGACTGGACCGCTCCTTCAGT	0.423													A	85592202	G	A	85592202	2	1	248	1	0	0	0	0	0	0	0	1	17311	1074	38	1		1	WDR63	1	85592202	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	32942	85592202	163658419	7	17314											
TDRKH	11022	broad.mit.edu	37	1	151748582	151748582	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:151748582T>C	uc009wnb.1	-	7	1389	c.1207A>G	c.(1207-1209)Agg>Ggg	p.R403G	TDRKH_uc001eyy.2_Missense_Mutation_p.R179G|TDRKH_uc001ezb.4_Missense_Mutation_p.R399G|TDRKH_uc001ezc.4_Missense_Mutation_p.R358G|TDRKH_uc001eza.4_Missense_Mutation_p.R403G|TDRKH_uc001ezd.4_Missense_Mutation_p.R403G|TDRKH_uc010pdn.1_Missense_Mutation_p.R179G	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	403	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGAGAGCCCTGAGGTCCTTC	0.537													C	151748582	T	C	151748582	3	2	248	1	0	0	0	0	1	0	0	0	15734	1579	55	4	502	4	TDRKH	1	151748582	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	66156380	151748582	97502039	8	17315											
CR2	1380	broad.mit.edu	37	1	207643227	207643227	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:207643227G>A	uc001hfw.3	+	5	1124	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	CR2_uc001hfv.3_Nonsense_Mutation_p.W335*|CR2_uc009xch.3_Nonsense_Mutation_p.W335*|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	335	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.W335*(2)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTGGGACCTGGAGTGGCCCTG	0.522													A	207643227	G	A	207643227	4	1	248	1	0	0	0	0	0	1	0	0	3842	1183	41	3	1027	3	CR2	1	207643227	Nonsense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	55894645	207643227	41607394	9	17316											
OR1C1	26188	broad.mit.edu	37	1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:247920937C>T	uc010pza.2	-	0	772	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V258V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512													T	247920937	C	T	247920937	3	4	248	1	0	0	0	0	1	0	0	0	10952	536	19	1	174	1	OR1C1	1	247920937	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	40277710	247920937	1329684	10	17317											
SPATS2L	26010	broad.mit.edu	37	2	201332021	201332021	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:201332021C>T	uc010zhc.2	+	9	1069	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	SPATS2L_uc002uvn.4_Silent_p.L286L|SPATS2L_uc010fst.3_Silent_p.L286L|SPATS2L_uc002uvo.4_Silent_p.L226L|SPATS2L_uc002uvp.4_Silent_p.L286L|SPATS2L_uc002uvq.4_Silent_p.L217L|SPATS2L_uc002uvr.4_Silent_p.L286L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	286						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AGTGGAAATCCTGACTGCTCG	0.438													T	201332021	C	T	201332021	2	4	248	1	0	0	0	0	0	0	0	1	15019	680	24	3		3	SPATS2L	2	201332021	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08		201332021	41867352	11	17318											
RAPH1	65059	broad.mit.edu	37	2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:204320201G>A	uc002vad.3	-	8	1486	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	RAPH1_uc002vae.3_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.3_Nonsense_Mutation_p.R473*	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	421	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGATGCTCGCAAGAGAAAA	0.383													A	204320201	G	A	204320201	4	1	248	1	0	0	0	0	0	1	0	0	13050	1095	38	1	2522	1	RAPH1	2	204320201	Nonsense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	2988180	204320201	38879172	12	17319											
DGKD	8527	broad.mit.edu	37	2	234344488	234344488	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:234344488G>A	uc002vui.1	+	5	623	c.611G>A	c.(610-612)cGc>cAc	p.R204H	DGKD_uc002vuj.1_Missense_Mutation_p.R160H|DGKD_uc010fyh.1_Missense_Mutation_p.R71H|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Missense_Mutation_p.R71H	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	204					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCCCACAAGCGCTGTGCTGTG	0.507													A	234344488	G	A	234344488	3	1	248	1	0	0	0	0	1	0	0	0	4467	1087	38	1	657	1	DGKD	2	234344488	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	30024287	234344488	8854885	13	17320											
COL6A3	1293	broad.mit.edu	37	2	238305417	238305417	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:238305417A>G	uc002vwl.2	-	1	329	c.44T>C	c.(43-45)cTc>cCc	p.L15P	COL6A3_uc002vwo.2_Missense_Mutation_p.L15P|COL6A3_uc010znj.1_Missense_Mutation_p.L15P|COL6A3_uc002vwq.3_Missense_Mutation_p.L15P|COL6A3_uc002vwr.3_Missense_Mutation_p.L15P|COL6A3_uc010znk.1_Missense_Mutation_p.L15P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	15					axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		TGAGAGAAAGAGGCAAAAGAC	0.423													G	238305417	A	G	238305417	3	3	248	1	0	0	0	0	1	0	0	0	3701	304	11	4	9708	4	COL6A3	2	238305417	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	3960929	238305417	4893956	14	17321											
NCAPG	64151	broad.mit.edu	37	4	17825349	17825349	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:17825349A>G	uc003gpp.3	+	8	1515	c.1339A>G	c.(1339-1341)Aga>Gga	p.R447G	NCAPG_uc011bxj.2_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	447					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TCTTGTTGAAAGACTACTCCA	0.323													G	17825349	A	G	17825349	3	3	248	1	0	0	0	0	1	0	0	0	10207	64	3	4	1373	4	NCAPG	4	17825349	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08		17825349	173328927	15	17322											
GC	2638	broad.mit.edu	37	4	72620754	72620754	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:72620754G>C	uc010iif.3	-	9	1257	c.1162C>G	c.(1162-1164)Cta>Gta	p.L388V	GC_uc003hge.3_Missense_Mutation_p.L369V|GC_uc021xpb.1_Missense_Mutation_p.L369V	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	369	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AGGCTTTTTAGGGTTGGCTCA	0.388													C	72620754	G	C	72620754	3	2	248	1	0	0	0	0	1	0	0	0	6282	991	35	5	335	5	GC	4	72620754	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	54795405	72620754	118533522	16	17323											
C4orf22	255119	broad.mit.edu	37	4	81504250	81504250	+	Silent	SNP	G	G	A	rs141410009	by1000genomes	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:81504250G>A	uc010ijp.3	+	2	295	c.246G>A	c.(244-246)acG>acA	p.T82T	C4orf22_uc003hmf.3_Silent_p.T82T	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	82								p.T82M(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TTTACAGGACGCTAACAAGTG	0.383													A	81504250	G	A	81504250	2	1	248	1	0	0	0	0	0	0	0	1	2255	1074	38	1		1	C4orf22	4	81504250	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	8883496	81504250	109650026	17	17324											
PRKG2	5593	broad.mit.edu	37	4	82125882	82125882	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:82125882C>T	uc003hmh.2	-	0	333	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	PRKG2_uc011cch.1_Missense_Mutation_p.R107Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	107					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGAGGTCTTCCGGTGGACCTC	0.562													T	82125882	C	T	82125882	3	4	248	1	0	0	0	0	1	0	0	0	12523	652	23	2	2040	2	PRKG2	4	82125882	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	621632	82125882	109028394	18	17325											
ADCY2	108	broad.mit.edu	37	5	7709333	7709333	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:7709333C>T	uc003jdz.1	+	9	1478	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	ADCY2_uc011cmo.1_Missense_Mutation_p.R291W	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	471					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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.R471L(1)|p.R471Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGGAGAACGACGGAGCCCCCA	0.587													T	7709333	C	T	7709333	3	4	248	1	0	0	0	0	1	0	0	0	294	527	19	1	1449	1	ADCY2	5	7709333	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08		7709333	173205927	19	17326											
PIK3R1	5295	broad.mit.edu	37	5	67589298	67589298	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:67589298C>A	uc003jva.3	+	9	1866	c.1286C>A	c.(1285-1287)tCc>tAc	p.S429Y	PIK3R1_uc003jvc.3_Missense_Mutation_p.S129Y|PIK3R1_uc003jvd.3_Missense_Mutation_p.S159Y|PIK3R1_uc003jve.3_Missense_Mutation_p.S108Y|PIK3R1_uc021xzn.1_Missense_Mutation_p.S66Y|PIK3R1_uc011crb.2_Missense_Mutation_p.S99Y	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	429					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATCCAGTATCCAAATACCAA	0.318			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67589298	C	A	67589298	3	1	248	1	0	0	0	0	1	0	0	0	11918	855	30	5	1450	5	PIK3R1	5	67589298	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	59879965	67589298	113325962	20	17327											
PCDHB12	56124	broad.mit.edu	37	5	140588488	140588488	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:140588488C>T	uc003liz.3	+	0	198	c.9C>T	c.(7-9)aaC>aaT	p.N3N	PCDHB12_uc011dak.2_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	3					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E2*(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATGGAAAACGGAGGGGCAG	0.493													T	140588488	C	T	140588488	2	4	248	1	0	0	0	0	0	0	0	1	11537	535	19	1		1	PCDHB12	5	140588488	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	72999190	140588488	40326772	21	17328											
FOXI1	2299	broad.mit.edu	37	5	169533358	169533358	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:169533358G>C	uc003mai.4	+	0	442	c.397G>C	c.(397-399)Gcc>Ccc	p.A133P	FOXI1_uc003maj.4_Missense_Mutation_p.A133P	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	133					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTCTCATCGCCATGGCCAT	0.642									Pendred syndrome				C	169533358	G	C	169533358	3	2	248	1	0	0	0	0	1	0	0	0	6009	1087	38	5	399	5	FOXI1	5	169533358	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	28944870	169533358	11381902	22	17329											
BEND3	57673	broad.mit.edu	37	6	107391897	107391897	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr6:107391897C>T	uc003prs.2	-	4	1148	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	166										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCCGCAGTGACGAGGGGCTGT	0.567													T	107391897	C	T	107391897	2	4	248	1	0	0	0	0	0	0	0	1	1399	523	19	1		1	BEND3	6	107391897	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08		107391897	63723170	23	17330											
ANKIB1	54467	broad.mit.edu	37	7	91991520	91991520	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr7:91991520T>A	uc003ulw.2	+	9	1795	c.1419T>A	c.(1417-1419)caT>caA	p.H473Q		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	473							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTGAAGCACATGAGCCTTGTG	0.368													A	91991520	T	A	91991520	3	1	248	1	0	0	0	0	1	0	0	0	630	1461	51	5	1453	5	ANKIB1	7	91991520	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08		91991520	67147143	24	17331											
PRSS37	136242	broad.mit.edu	37	7	141536273	141536273	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr7:141536273G>T	uc003vws.2	-	4	1002	c.630C>A	c.(628-630)ttC>ttA	p.F210L	PRSS37_uc011krl.2_Missense_Mutation_p.F209L|PRSS37_uc011krk.2_Missense_Mutation_p.F197L|PRSS37_uc003vwt.2_Missense_Mutation_p.F197L	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	210	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CCCCTCCCATGAAGTGCCCCA	0.512													T	141536273	G	T	141536273	3	4	248	1	0	0	0	0	1	0	0	0	12626	1281	45	5	81	5	PRSS37	7	141536273	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	49544753	141536273	17602390	25	17332											
DOCK5	80005	broad.mit.edu	37	8	25199986	25199986	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr8:25199986G>C	uc003xeg.3	+	24	2717	c.2580G>C	c.(2578-2580)atG>atC	p.M860I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.M574I|DOCK5_uc003xei.3_Missense_Mutation_p.M430I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	860						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTAACTGCATGACCAAGATAG	0.468													C	25199986	G	C	25199986	3	2	248	1	0	0	0	0	1	0	0	0	4690	1290	45	5	2678	5	DOCK5	8	25199986	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		25199986	121164036	26	17333											
POTEA	340441	broad.mit.edu	37	8	43171085	43171085	+	Missense_Mutation	SNP	G	G	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr8:43171085G>C	uc003xpz.1	+	6	999	c.956G>C	c.(955-957)aGt>aCt	p.S319T	POTEA_uc003xqa.1_Missense_Mutation_p.S273T	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	319										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTAAAGGAAGTGAAAATAGT	0.303													C	43171085	G	C	43171085	3	2	248	1	0	0	0	0	1	0	0	0	12261	1029	36	5	982	5	POTEA	8	43171085	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	17971099	43171085	103192937	27	17334											
ADAMTSL1	92949	broad.mit.edu	37	9	18574217	18574217	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:18574217C>T	uc003zne.4	+	3	579	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	ADAMTSL1_uc003znb.3_Missense_Mutation_p.R143C|ADAMTSL1_uc003znc.4_Missense_Mutation_p.R143C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	143						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.T142M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGATGGTACGCGTTGCTATAC	0.438													T	18574217	C	T	18574217	3	4	248	1	0	0	0	0	1	0	0	0	274	768	27	1	441	1	ADAMTSL1	9	18574217	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08		18574217	122639214	28	17335											
IFNW1	3467	broad.mit.edu	37	9	21141168	21141168	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:21141168C>T	uc003zol.1	-	0	977	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	134					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGCTAATTGCCCCAGCAGATT	0.527													T	21141168	C	T	21141168	2	4	248	1	0	0	0	0	0	0	0	1	7552	610	22	3		3	IFNW1	9	21141168	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	2566951	21141168	120072263	29	17336											
ST6GALNAC4	27090	broad.mit.edu	37	9	130674960	130674960	+	Splice_Site	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:130674960C>A	uc004bss.3	-	4	475	c.199_splice	c.e4-1	p.P67_splice	ST6GALNAC4_uc004bst.3_Splice_Site	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	67					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGACCAGCGGCTGCAGGGCAG	0.632													A	130674960	C	A	130674960	5	1	248	1	0	0	0	0	0	0	1	0	15225	811	28	5	722	5	ST6GALNAC4	9	130674960	Splice_Site	SNP	C	TCGA-41-3915-01A-01D-1353-08	109533792	130674960	10538471	30	17337											
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:89692905G>A	uc001kfb.3	+	4	1421	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130Q(130)|p.R130G(110)|p.R130*(72)|p.0?(37)|p.R130fs*4(28)|p.R130L(25)|p.R130P(14)|p.K128_R130del(8)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.G129fs*50(1)|p.G129fs*51(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692905	G	A	89692905	3	1	248	1	0	0	0	0	1	0	0	0	12738	1058	37	2	407	2	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		89692905	45841842	31	17338											
PDZD7	79955	broad.mit.edu	37	10	102789812	102789812	+	Silent	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:102789812G>T	uc001ksn.3	-	1	415	c.165C>A	c.(163-165)ccC>ccA	p.P55P	PDZD7_uc021pxc.1_Silent_p.P55P|PDZD7_uc001kso.2_Silent_p.P55P|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	55						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGATTCCGCGGGGGGGCCCGT	0.662													T	102789812	G	T	102789812	2	4	248	1	0	0	0	0	0	0	0	1	11704	1219	43	5		5	PDZD7	10	102789812	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	13096907	102789812	32744935	32	17339											
HPS6	79803	broad.mit.edu	37	10	103827208	103827208	+	Silent	SNP	C	C	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:103827208C>G	uc001kuj.3	+	0	2085	c.1977C>G	c.(1975-1977)ctC>ctG	p.L659L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	659						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCCTGGCCCTCGGCCCCTCCA	0.617									Hermansky-Pudlak syndrome				G	103827208	C	G	103827208	2	3	248	1	0	0	0	0	0	0	0	1	7343	871	31	5		5	HPS6	10	103827208	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	1037396	103827208	31707539	33	17340											
KIAA1598	57698	broad.mit.edu	37	10	118728190	118728190	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:118728190C>T	uc021pzk.1	-	2	643	c.145G>A	c.(145-147)Gtt>Att	p.V49I	KIAA1598_uc009xyw.3_Missense_Mutation_p.V49I|KIAA1598_uc001lcz.4_Missense_Mutation_p.V49I|KIAA1598_uc010qso.2_5'UTR|KIAA1598_uc010qsp.1_Missense_Mutation_p.V49I|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.4_Missense_Mutation_p.V19I	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	49					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGTTTTTTAACGGCTTCATCT	0.323													T	118728190	C	T	118728190	3	4	248	1	0	0	0	0	1	0	0	0	8246	536	19	1	1810	1	KIAA1598	10	118728190	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	14900982	118728190	16806557	34	17341											
SYCE1	93426	broad.mit.edu	37	10	135370273	135370273	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:135370273C>A	uc001lno.2	-	7	623	c.518G>T	c.(517-519)tGg>tTg	p.W173L	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.W45L|SYCE1_uc009ybn.2_Missense_Mutation_p.W173L|SYCE1_uc001lnn.2_Missense_Mutation_p.W137L	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	173					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTGGAAGTCCCAGAGGTCCTT	0.567													A	135370273	C	A	135370273	3	1	248	1	0	0	0	0	1	0	0	0	15425	595	21	5	604	5	SYCE1	10	135370273	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	16642083	135370273	164474	35	17342											
DENND5A	23258	broad.mit.edu	37	11	9171674	9171674	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:9171674G>A	uc001mhl.3	-	14	2946	c.2689C>T	c.(2689-2691)Ctt>Ttt	p.L897F	DENND5A_uc001mhk.3_Missense_Mutation_p.L240F|DENND5A_uc010rbw.2_Missense_Mutation_p.L897F|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	897	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTCTGGAAAGTAACTTTTTT	0.517													A	9171674	G	A	9171674	3	1	248	1	0	0	0	0	1	0	0	0	4436	1029	36	3	1210	3	DENND5A	11	9171674	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		9171674	125834842	36	17343											
OR4C11	219429	broad.mit.edu	37	11	55371464	55371464	+	Missense_Mutation	SNP	C	C	T	rs146220981	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:55371464C>T	uc010rii.2	-	0	411	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGTTGGGTAACGCAAGGGCTT	0.458													T	55371464	C	T	55371464	3	4	248	1	0	0	0	0	1	0	0	0	11045	536	19	1	548	1	OR4C11	11	55371464	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	46199790	55371464	79635052	37	17344											
SLC43A3	5553	broad.mit.edu	37	11	57156544	57156544	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:57156544G>A	uc001nkc.3	-	2	379	c.305C>T	c.(304-306)cCt>cTt	p.P102L	SLC43A3_uc001nkd.3_Missense_Mutation_p.P102L|SLC43A3_uc001nke.3_Missense_Mutation_p.P382L	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane		p.R101C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CTGGCACCCAGGGATGCCCAC	0.532													A	57156544	G	A	57156544	3	1	248	1	0	0	0	0	1	0	0	0	14634	1000	35	3		3	SLC43A3	11	57156544	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	1785080	57156544	77849972	38	17345	22	2									
SLC43A3	5553	broad.mit.edu	37	11	57156546	57156546	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:57156546G>A	uc001nkc.3	-	2	377	c.303C>T	c.(301-303)atC>atT	p.I101I	SLC43A3_uc001nkd.3_Silent_p.I101I|SLC43A3_uc001nke.3_Silent_p.I381I	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane		p.R101C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GGCACCCAGGGATGCCCACCA	0.537													A	57156546	G	A	57156546	2	1	248	1	0	0	0	0	0	0	0	1	14634	1164	41	3		3	SLC43A3	11	57156546	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	2	57156546	77849970	39	17346	22	2									
MS4A14	84689	broad.mit.edu	37	11	60184319	60184319	+	Silent	SNP	C	C	T	rs147367847	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:60184319C>T	uc001npj.3	+	4	2443	c.1878C>T	c.(1876-1878)gcC>gcT	p.A626A	MS4A14_uc001npi.3_Silent_p.A514A|MS4A14_uc001npn.3_Silent_p.A364A|MS4A14_uc001npk.3_Silent_p.A609A|MS4A14_uc001npl.3_Silent_p.A364A|MS4A14_uc001npm.3_Silent_p.A364A	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	626	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ATGTTCAAGCCGAAGGACAGC	0.458													T	60184319	C	T	60184319	2	4	248	1	0	0	0	0	0	0	0	1	9858	639	23	2		2	MS4A14	11	60184319	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	3027773	60184319	74822197	40	17347											
MEN1	4221	broad.mit.edu	37	11	64572600	64572600	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:64572600C>T	uc001obj.3	-	8	1344	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Missense_Mutation_p.G424D|MEN1_uc001obl.3_Missense_Mutation_p.G384D|MEN1_uc001obm.3_Missense_Mutation_p.G419D|MEN1_uc001obn.3_Missense_Mutation_p.G424D|MEN1_uc001obo.3_Missense_Mutation_p.G424D|MEN1_uc001obq.3_Missense_Mutation_p.G424D|MEN1_uc001obr.3_Missense_Mutation_p.G424D	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	424			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.L414_E425del(2)|p.G419fs*26(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TTTGCAGATGCCGTCGTAGAA	0.637			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				T	64572600	C	T	64572600	3	4	248	1	0	0	0	0	1	0	0	0	9472	739	26	3	584	3	MEN1	11	64572600	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	4388281	64572600	70433916	41	17348											
ATM	472	broad.mit.edu	37	11	108183214	108183214	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:108183214A>G	uc001pkb.1	+	39	6380	c.5995A>G	c.(5995-5997)Ata>Gta	p.I1999V	ATM_uc009yxr.1_Missense_Mutation_p.I1999V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.I651V|ATM_uc001pkg.1_Missense_Mutation_p.I356V|ATM_uc009yxt.1_Missense_Mutation_p.I113V	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1999	FAT.				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			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)		AGAAACTGGAATAAGTTTACA	0.328			"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)			G	108183214	A	G	108183214	3	3	248	1	0	0	0	0	1	0	0	0	1109	101	4	4	6149	4	ATM	11	108183214	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	43610614	108183214	26823302	42	17349											
IFLTD1	160492	broad.mit.edu	37	12	25699396	25699396	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:25699396T>C	uc010sji.1	-	3	648	c.403A>G	c.(403-405)Aag>Gag	p.K135E	IFLTD1_uc001rgt.1_Missense_Mutation_p.K17E|IFLTD1_uc001rgs.2_Missense_Mutation_p.K114E|IFLTD1_uc010sjj.2_Missense_Mutation_p.K51E|IFLTD1_uc009zjc.2_Missense_Mutation_p.K135E	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	114						intermediate filament	structural molecule activity	p.L134F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GTAAGTTTCTTTGAATCACCA	0.373													C	25699396	T	C	25699396	3	2	248	1	0	0	0	0	1	0	0	0	7530	1850	64	4	850	4	IFLTD1	12	25699396	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08		25699396	108152499	43	17350											
CPNE8	144402	broad.mit.edu	37	12	39268300	39268300	+	Nonsense_Mutation	SNP	T	T	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:39268300T>A	uc001rls.1	-	1	196	c.112A>T	c.(112-114)Aga>Tga	p.R38*		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	38	C2 1.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AATGTGTCTCTGTCAAGAAGA	0.264													A	39268300	T	A	39268300	4	1	248	1	0	0	0	0	0	1	0	0	3818	1588	55	5	1658	5	CPNE8	12	39268300	Nonsense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	13568904	39268300	94583595	44	17351											
DIP2B	57609	broad.mit.edu	37	12	51102260	51102260	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:51102260A>G	uc001rwv.3	+	21	2720	c.2564A>G	c.(2563-2565)tAt>tGt	p.Y855C	DIP2B_uc009zlt.3_Missense_Mutation_p.Y285C	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	855						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTGTATTTTATGATGAGCGC	0.448													G	51102260	A	G	51102260	3	3	248	1	0	0	0	0	1	0	0	0	4528	449	16	4	2650	4	DIP2B	12	51102260	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	11833960	51102260	82749635	45	17352											
SDR9C7	121214	broad.mit.edu	37	12	57324008	57324008	+	Splice_Site	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:57324008A>G	uc010sqw.2	-	2	704	c.560_splice	c.e2+1	p.R187_splice		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	187						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGGCCCAGTTACCTTATGCTG	0.537													G	57324008	A	G	57324008	5	3	248	1	0	0	0	0	0	0	1	0	13974	405	14	4	391	4	SDR9C7	12	57324008	Splice_Site	SNP	A	TCGA-41-3915-01A-01D-1353-08	6221748	57324008	76527887	46	17353											
TUBA3C	7278	broad.mit.edu	37	13	19748215	19748215	+	Missense_Mutation	SNP	T	T	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr13:19748215T>A	uc009zzj.3	-	4	1246	c.1141A>T	c.(1141-1143)Acc>Tcc	p.T381S		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	381					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATGGCCGTGGTGTTGCTCAGC	0.627													A	19748215	T	A	19748215	3	1	248	1	0	0	0	0	1	0	0	0	16743	1696	59	5	215	5	TUBA3C	13	19748215	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08		19748215	95421663	47	17354											
AHNAK2	113146	broad.mit.edu	37	14	105413630	105413630	+	Missense_Mutation	SNP	G	G	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr14:105413630G>T	uc010axc.1	-	6	8278	c.8158C>A	c.(8158-8160)Cac>Aac	p.H2720N	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.H2620N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2720						nucleus				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)			TCGGGAACGTGGCCCTCTGGG	0.602													T	105413630	G	T	105413630	3	4	248	1	0	0	0	0	1	0	0	0	415	1348	47	5	9233	5	AHNAK2	14	105413630	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		105413630	1935910	48	17355											
ADAMTS7	11173	broad.mit.edu	37	15	79083051	79083051	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:79083051G>A	uc002bej.4	-	5	1200	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ADAMTS7_uc010und.1_Missense_Mutation_p.A330V|ADAMTS7_uc002bek.1_Missense_Mutation_p.A330V	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	330	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGGGATGGGCATCCCCCTT	0.592													A	79083051	G	A	79083051	3	1	248	1	0	0	0	0	1	0	0	0	271	1203	42	3	4147	3	ADAMTS7	15	79083051	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		79083051	23448341	49	17356											
OR4F15	390649	broad.mit.edu	37	15	102358715	102358715	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:102358715G>A	uc010uts.2	+	0	326	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GCTCTTGGGGGCACTGAGATG	0.458													A	102358715	G	A	102358715	3	1	248	1	0	0	0	0	1	0	0	0	11061	1203	42	3	328	3	OR4F15	15	102358715	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	23275664	102358715	172677	50	17357											
ZFP3	124961	broad.mit.edu	37	17	4995064	4995064	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:4995064A>G	uc002gaq.3	+	1	390	c.265A>G	c.(265-267)Aat>Gat	p.N89D	ZFP3_uc021tog.1_Missense_Mutation_p.N89D	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CCGGGAGAATAATGAGAGTGA	0.468													G	4995064	A	G	4995064	3	3	248	1	0	0	0	0	1	0	0	0	17640	362	13	4	267	4	ZFP3	17	4995064	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08		4995064	76200146	51	17358											
ZNF287	57336	broad.mit.edu	37	17	16455757	16455757	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:16455757T>C	uc021trd.1	-	5	2317	c.1699A>G	c.(1699-1701)Aat>Gat	p.N567D	ZNF287_uc002gqi.2_Missense_Mutation_p.N567D	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	560					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CCACATTCATTACATTTATAA	0.353													C	16455757	T	C	16455757	3	2	248	1	0	0	0	0	1	0	0	0	17822	1754	61	4	590	4	ZNF287	17	16455757	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	11460693	16455757	64739453	52	17359											
RAI1	10743	broad.mit.edu	37	17	17697187	17697187	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:17697187G>A	uc002grm.3	+	2	1394	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	RAI1_uc002grn.1_Missense_Mutation_p.A309T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	309	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAAAACCTCGCCAAGTATCA	0.627													A	17697187	G	A	17697187	3	1	248	1	0	0	0	0	1	0	0	0	13007	1087	38	1	927	1	RAI1	17	17697187	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	1241430	17697187	63498023	53	17360											
KRT37	8688	broad.mit.edu	37	17	39577227	39577227	+	Missense_Mutation	SNP	T	T	C			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:39577227T>C	uc002hwp.1	-	6	1300	c.1253A>G	c.(1252-1254)aAt>aGt	p.N418S		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	418	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGAACAGGGATTGCAGGGGAG	0.547													C	39577227	T	C	39577227	3	2	248	1	0	0	0	0	1	0	0	0	8474	1493	52	4	100	4	KRT37	17	39577227	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	21880040	39577227	41617983	54	17361											
STXBP4	252983	broad.mit.edu	37	17	53237217	53237217	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:53237217G>A	uc002iuf.1	+	17	1814	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	STXBP4_uc010dcd.1_Missense_Mutation_p.R514H	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	536						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AATCTATCTCGCTCAGAGGAG	0.438													A	53237217	G	A	53237217	3	1	248	1	0	0	0	0	1	0	0	0	15354	1087	38	1	1669	1	STXBP4	17	53237217	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	13659990	53237217	27957993	55	17362											
CBX2	84733	broad.mit.edu	37	17	77758112	77758112	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:77758112G>A	uc002jxc.3	+	4	928	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	290					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGGACCTGAAGGTGAGGA	0.637													A	77758112	G	A	77758112	2	1	248	1	0	0	0	0	0	0	0	1	2718	1277	45	3		3	CBX2	17	77758112	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	24520895	77758112	3437098	56	17363											
SPPL2B	56928	broad.mit.edu	37	19	2339146	2339146	+	Missense_Mutation	SNP	A	A	G			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:2339146A>G	uc002lvs.3	+	4	618	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	SPPL2B_uc010dsw.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsy.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsz.1_Missense_Mutation_p.I180V|SPPL2B_uc002lvr.3_Missense_Mutation_p.I180V|SPPL2B_uc010dta.1_Missense_Mutation_p.I33V|SPPL2B_uc002lvu.3_5'Flank	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	180						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		CATCATCTTCATCATGGCTGT	0.632													G	2339146	A	G	2339146	3	3	248	1	0	0	0	0	1	0	0	0	15088	217	8	4	556	4	SPPL2B	19	2339146	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08		2339146	56789837	57	17364											
FBXL12	54850	broad.mit.edu	37	19	9921852	9921852	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:9921852C>T	uc002mme.3	-	2	943	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	FBXL12_uc002mmd.3_Missense_Mutation_p.R181Q|FBXL12_uc002mmf.3_Missense_Mutation_p.R181Q|FBXL12_uc002mmg.3_Missense_Mutation_p.R181Q	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	234							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CACGGTCAGCCGGATCTTGCG	0.667													T	9921852	C	T	9921852	3	4	248	1	0	0	0	0	1	0	0	0	5708	652	23	2	283	2	FBXL12	19	9921852	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	7582706	9921852	49207131	58	17365											
S1PR5	53637	broad.mit.edu	37	19	10625052	10625052	+	Silent	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:10625052G>A	uc021uox.1	-	0	636	c.636C>T	c.(634-636)taC>taT	p.Y212Y	S1PR5_uc002mot.2_Silent_p.Y212Y|S1PR5_uc002mou.2_Silent_p.Y212Y	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						AGATGCGCGCGTAGAGTGCAC	0.697													A	10625052	G	A	10625052	2	1	248	1	0	0	0	0	0	0	0	1	13797	1140	40	1		1	S1PR5	19	10625052	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	703200	10625052	48503931	59	17366											
USHBP1	83878	broad.mit.edu	37	19	17361108	17361108	+	Missense_Mutation	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:17361108C>T	uc002nfs.1	-	12	2151	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	USHBP1_uc002nfr.1_Missense_Mutation_p.E306K|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.E616K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	680							PDZ domain binding			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						GCAGTGGCTTCGAGCACCGCC	0.657													T	17361108	C	T	17361108	3	4	248	1	0	0	0	0	1	0	0	0	17034	893	31	2	77	2	USHBP1	19	17361108	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	6736056	17361108	41767875	60	17367											
IRGC	56269	broad.mit.edu	37	19	44223763	44223763	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:44223763C>T	uc002oxh.3	+	1	1200	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	IRGC_uc021uvh.1_Silent_p.S351S	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	351						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCCAGTCGTCCGACGGCGCCA	0.657													T	44223763	C	T	44223763	2	4	248	1	0	0	0	0	0	0	0	1	7838	639	23	2		2	IRGC	19	44223763	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	26862655	44223763	14905220	61	17368											
BCAM	4059	broad.mit.edu	37	19	45322375	45322375	+	Missense_Mutation	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:45322375G>A	uc002ozu.3	+	10	1443	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N	BCAM_uc002ozt.1_Missense_Mutation_p.D467N	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	467	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAGGGAAGGAGACGAAGTCAC	0.597													A	45322375	G	A	45322375	3	1	248	1	0	0	0	0	1	0	0	0	1344	942	33	3	1441	3	BCAM	19	45322375	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	1098612	45322375	13806608	62	17369											
RELB	5971	broad.mit.edu	37	19	45515222	45515222	+	Silent	SNP	C	C	T			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:45515222C>T	uc021uvq.1	+	3	323	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RELB_uc021uvp.1_Silent_p.N61N	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	64	Leucine-zipper.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCAAGGAGAACGGCTTCGGCC	0.577													T	45515222	C	T	45515222	2	4	248	1	0	0	0	0	0	0	0	1	13217	535	19	1		1	RELB	19	45515222	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	192847	45515222	13613761	63	17370											
ID1	3397	broad.mit.edu	37	20	30193855	30193855	+	Splice_Site	SNP	G	G	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr20:30193855G>A	uc002wwg.2	+	2	532	c.427_splice	c.e2-1	p.A143_splice	ID1_uc002wwh.2_3'UTR|MIR3193_uc021wbt.1_5'Flank	NM_002165	NP_002156	P41134	ID1_HUMAN	Homo sapiens inhibitor of DNA binding 1, dominant negative helix-loop-helix protein (ID1), transcript variant 1, mRNA.	143					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CGTTTTCACAGGCGGCATGCG	0.652													A	30193855	G	A	30193855	5	1	248	1	0	0	0	0	0	0	1	0	7489	1014	35	3	456	3	ID1	20	30193855	Splice_Site	SNP	G	TCGA-41-3915-01A-01D-1353-08		30193855	32831665	64	17371											
ATP11C	286410	broad.mit.edu	37	X	138867417	138867417	+	Missense_Mutation	SNP	C	C	A			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chrX:138867417C>A	uc004faz.3	-	15	1742	c.1643G>T	c.(1642-1644)cGa>cTa	p.R548L	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R548L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	548					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACTCATACGTCGCCGGACAGC	0.338													A	138867417	C	A	138867417	3	1	248	1	0	0	0	0	1	0	0	0	1121	884	31	5	1878	5	ATP11C	23	138867417	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08		138867417	16403143	65	17372											
ACTRT2	140625	broad.mit.edu	37	1	2938845	2938845	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:2938845G>T	uc001ajz.3	+	0	800	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	199						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCTGCTCCTGGCCAGCGGCCA	0.617													T	2938845	G	T	2938845	3	4	249	1	0	0	0	0	1	0	0	0	219	1203	42	5	597	5	ACTRT2	1	2938845	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		2938845	246311776	1	17373											
TPRG1L	127262	broad.mit.edu	37	1	3545150	3545150	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:3545150G>A	uc001akm.3	+	4	883	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TPRG1L_uc009vlj.3_Missense_Mutation_p.G209S	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	Homo sapiens tumor protein p63 regulated 1-like (TPRG1L), mRNA.	268						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CATGACCAGGGGCAAAATAGG	0.612													A	3545150	G	A	3545150	3	1	249	1	0	0	0	0	1	0	0	0	16416	1232	43	3	820	3	TPRG1L	1	3545150	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	606305	3545150	245705471	2	17374											
PCSK9	255738	broad.mit.edu	37	1	55523733	55523733	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:55523733C>T	uc001cyf.2	+	7	1567	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	402	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.S401C(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ATGCTGTCTGCCGAGCCGGAG	0.612													T	55523733	C	T	55523733	3	4	249	1	0	0	0	0	1	0	0	0	11606	739	26	3	1235	3	PCSK9	1	55523733	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	51978583	55523733	193726888	3	17375											
ADAM30	11085	broad.mit.edu	37	1	120436835	120436835	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:120436835G>A	uc001eij.3	-	0	2313	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	709					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATCACTTGCCGGAAAAACACA	0.393													A	120436835	G	A	120436835	3	1	249	1	0	0	0	0	1	0	0	0	248	1115	39	2	251	2	ADAM30	1	120436835	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	64913102	120436835	128813786	4	17376											
PDC	5132	broad.mit.edu	37	1	186413476	186413476	+	Missense_Mutation	SNP	T	T	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:186413476T>G	uc001gsa.3	-	3	449	c.376A>C	c.(376-378)Aca>Cca	p.T126P	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Missense_Mutation_p.T74P	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	126					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TTTTCAATTGTTTCTAGGAAT	0.398													G	186413476	T	G	186413476	3	3	249	1	0	0	0	0	1	0	0	0	11614	1725	60	5	368	5	PDC	1	186413476	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08	65976641	186413476	62837145	5	17377											
RYR2	6262	broad.mit.edu	37	1	237550598	237550598	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:237550598C>T	uc001hyl.1	+	8	714	c.594C>T	c.(592-594)aaC>aaT	p.N198N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	198	MIR 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.G197S(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)			CTTATGGCAACGGCAGCTTAC	0.498													T	237550598	C	T	237550598	2	4	249	1	0	0	0	0	0	0	0	1	13769	535	19	1		1	RYR2	1	237550598	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	51137122	237550598	11700023	6	17378											
APOB	338	broad.mit.edu	37	2	21227177	21227177	+	Silent	SNP	G	G	A	rs12713501	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:21227177G>A	uc002red.3	-	27	12179	c.12051C>T	c.(12049-12051)gaC>gaT	p.D4017D		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4017					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D4017D(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAGAAAAGTCGTCATCTTCAT	0.512													A	21227177	G	A	21227177	2	1	249	1	0	0	0	0	0	0	0	1	785	1136	40	1		1	APOB	2	21227177	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08		21227177	221972196	7	17379											
LCT	3938	broad.mit.edu	37	2	136566637	136566637	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:136566637C>T	uc002tuu.1	-	7	3291	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1094	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACGGCGTGGGCTATCCTATAT	0.542													T	136566637	C	T	136566637	3	4	249	1	0	0	0	0	1	0	0	0	8693	797	28	3	2543	3	LCT	2	136566637	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	115339460	136566637	106632736	8	17380											
TTN	7273	broad.mit.edu	37	2	179392028	179392028	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:179392028G>A	uc021vsy.1	-	311	100208	c.99983C>T	c.(99982-99984)cCg>cTg	p.P33328L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P27023L|TTN_uc021vta.1_Missense_Mutation_p.P26956L|TTN_uc021vtb.1_Missense_Mutation_p.P26831L|TTN_uc002umq.3_Missense_Mutation_p.P244L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34255	Ig-like 146.						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)			AATTTTAGGCGGAATTCCTTT	0.378													A	179392028	G	A	179392028	3	1	249	1	0	0	0	0	1	0	0	0	16732	1116	39	2	292	2	TTN	2	179392028	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	42825391	179392028	63807345	9	17381											
ALPP	250	broad.mit.edu	37	2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:233245025C>T	uc002vsq.3	+	5	952	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	263			R -> H (in dbSNP:rs2853378).			anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.R263C(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667													T	233245025	C	T	233245025	3	4	249	1	0	0	0	0	1	0	0	0	548	768	27	1	809	1	ALPP	2	233245025	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	53852997	233245025	9954348	10	17382											
ALPPL2	251	broad.mit.edu	37	2	233273106	233273106	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:233273106C>T	uc002vss.4	+	5	831	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	260				H -> R (in Ref. 8; AAH14139).	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCTGGCGAAGCACCAGGTGAT	0.662													T	233273106	C	T	233273106	3	4	249	1	0	0	0	0	1	0	0	0	549	710	25	3	800	3	ALPPL2	2	233273106	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	28081	233273106	9926267	11	17383											
DHX30	22907	broad.mit.edu	37	3	47882649	47882649	+	Missense_Mutation	SNP	G	G	A	rs138418233	by1000genomes	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:47882649G>A	uc003cru.3	+	6	1075	c.649G>A	c.(649-651)Gct>Act	p.A217T	DHX30_uc003crs.2_Missense_Mutation_p.A178T|DHX30_uc003crt.3_Missense_Mutation_p.A178T|DHX30_uc010hjr.1_Missense_Mutation_p.A245T	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	217						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGATTCCCACGCTCCACTCAG	0.552													A	47882649	G	A	47882649	3	1	249	1	0	0	0	0	1	0	0	0	4504	1087	38	1	678	1	DHX30	3	47882649	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		47882649	150139781	12	17384											
LAMP3	27074	broad.mit.edu	37	3	182872086	182872086	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:182872086A>G	uc003flh.4	-	1	367	c.143T>C	c.(142-144)aTa>aCa	p.I48T		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	48					cell proliferation	integral to membrane|lysosomal membrane		p.I48T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTTTTTTTATGTCCTGTAC	0.428													G	182872086	A	G	182872086	3	3	249	1	0	0	0	0	1	0	0	0	8619	449	16	4	1127	4	LAMP3	3	182872086	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08	134989437	182872086	15150344	13	17385											
UTP3	57050	broad.mit.edu	37	4	71555475	71555475	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:71555475G>A	uc003hfo.3	+	0	1280	c.1081G>A	c.(1081-1083)Gtt>Att	p.V361I		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	361					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGCCTGTGCTGTTACAGATCT	0.363													A	71555475	G	A	71555475	3	1	249	1	0	0	0	0	1	0	0	0	17098	1377	48	3	1083	3	UTP3	4	71555475	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		71555475	119598801	14	17386											
ANKRD17	26057	broad.mit.edu	37	4	73951059	73951059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:73951059delC	uc003hgp.3	-	29	7183	c.7066delG	c.(7066-7068)gcafs	p.A2356fs	ANKRD17_uc003hgo.3_Frame_Shift_Del_p.A2243fs|ANKRD17_uc003hgq.3_Frame_Shift_Del_p.A2105fs|ANKRD17_uc003hgr.3_Frame_Shift_Del_p.A2355fs	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2356					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAAGGGGTGCCCCAGGTCCG	0.463													-	73951059	C	-	73951059	7	5	249	1	0	1	0	1	0	0	0	0	646	739	26	0	765	0	ANKRD17	4	73951059	Frame_Shift_Del	DEL	C	TCGA-41-4097-01A-01D-1353-08	2395584	73951059	117203217	15	17387											
TRIML1	339976	broad.mit.edu	37	4	189068417	189068417	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:189068417C>T	uc003izm.1	+	5	1413	c.1298C>T	c.(1297-1299)cCg>cTg	p.P433L	TRIML1_uc003izn.1_Missense_Mutation_p.P157L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	433	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			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)		TACAGCTTCCCGCAGGCTTCT	0.522													T	189068417	C	T	189068417	3	4	249	1	0	0	0	0	1	0	0	0	16547	652	23	2	1320	2	TRIML1	4	189068417	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	115117358	189068417	2085859	16	17388											
IL31RA	133396	broad.mit.edu	37	5	55210699	55210699	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:55210699C>T	uc003jql.3	+	13	1953	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	IL31RA_uc003jqm.3_Silent_p.P568P|IL31RA_uc003jqn.3_Silent_p.P587P|IL31RA_uc021xyq.1_Silent_p.P568P|IL31RA_uc003jqo.3_Silent_p.P445P	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	555					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTGTTGGCCCACCGTTCCCA	0.423													T	55210699	C	T	55210699	2	4	249	1	0	0	0	0	0	0	0	1	7691	581	21	3		3	IL31RA	5	55210699	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08		55210699	125704561	17	17389											
MAST4	375449	broad.mit.edu	37	5	66462447	66462447	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:66462447C>T	uc021xzk.1	+	28	7748	c.7440C>T	c.(7438-7440)agC>agT	p.S2480S	MAST4_uc003jut.2_Silent_p.S2291S|MAST4_uc003juw.3_Silent_p.S2219S|MAST4_uc003jux.3_Silent_p.S44S	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2483						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			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)		CAGCCAGCAGCGACACCTCTT	0.652											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	66462447	C	T	66462447	2	4	249	1	0	0	0	0	0	0	0	1	9327	767	27	1		1	MAST4	5	66462447	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	11251748	66462447	114452813	18	17390											
TTC37	9652	broad.mit.edu	37	5	94838702	94838702	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:94838702C>G	uc003klb.3	-	31	3520	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1075							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAGGCTCTCTCATAGGCTGTT	0.368													G	94838702	C	G	94838702	3	3	249	1	0	0	0	0	1	0	0	0	16702	835	29	5	1519	5	TTC37	5	94838702	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	28376255	94838702	86076558	19	17391											
FBN2	2201	broad.mit.edu	37	5	127611828	127611828	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:127611828G>T	uc003kuu.3	-	58	7935	c.7496C>A	c.(7495-7497)cCg>cAg	p.P2499Q		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2499	EGF-like 42; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCATGGTTTCGGGGACTGGGA	0.433													T	127611828	G	T	127611828	3	4	249	1	0	0	0	0	1	0	0	0	5703	1116	39	5	1270	5	FBN2	5	127611828	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	32773126	127611828	53303432	20	17392											
ATP10B	23120	broad.mit.edu	37	5	160047790	160047790	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:160047790C>T	uc003lym.1	-	14	2827	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.3_Silent_p.S218S	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	660					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTCTCATCCGAGTCTGTGG	0.572													T	160047790	C	T	160047790	2	4	249	1	0	0	0	0	0	0	0	1	1117	639	23	2		2	ATP10B	5	160047790	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	32435962	160047790	20867470	21	17393											
NKAPL	222698	broad.mit.edu	37	6	28228340	28228340	+	Silent	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:28228340A>G	uc003nkt.3	+	0	1243	c.1191A>G	c.(1189-1191)aaA>aaG	p.K397K	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	397										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AAAAGACAAAAGAGAAAGATG	0.368													G	28228340	A	G	28228340	2	3	249	1	0	0	0	0	0	0	0	1	10440	69	3	4		4	NKAPL	6	28228340	Silent	SNP	A	TCGA-41-4097-01A-01D-1353-08		28228340	142886727	22	17394											
ZKSCAN3	80317	broad.mit.edu	37	6	28333384	28333384	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:28333384G>A	uc010jrc.3	+	6	1272	c.939G>A	c.(937-939)cgG>cgA	p.R313R	ZKSCAN3_uc003nle.4_Silent_p.R313R|ZKSCAN3_uc003nlf.4_Silent_p.R165R	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	313					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GAGGGAGGCGGCACATCTGCC	0.493													A	28333384	G	A	28333384	2	1	249	1	0	0	0	0	0	0	0	1	17685	1190	42	3		3	ZKSCAN3	6	28333384	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	105044	28333384	142781683	23	17395											
MDC1	9656	broad.mit.edu	37	6	30671653	30671653	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:30671653G>A	uc003nrg.4	-	9	5747	c.5307C>T	c.(5305-5307)gcC>gcT	p.A1769A	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Silent_p.A1376A	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1769	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GCTCAGGAATGGCTGTAAGGG	0.542								Other conserved DNA damage response genes					A	30671653	G	A	30671653	2	1	249	1	0	0	0	0	0	0	0	1	9403	1335	47	3		3	MDC1	6	30671653	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	2338269	30671653	140443414	24	17396											
AIF1	199	broad.mit.edu	37	6	31584614	31584614	+	Silent	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:31584614A>G	uc003nuy.3	+	5	455	c.381A>G	c.(379-381)aaA>aaG	p.K127K	AIF1_uc010jsy.3_3'UTR|AIF1_uc003nva.3_Silent_p.K73K	NM_001623	NP_116573	P55008	AIF1_HUMAN	Homo sapiens allograft inflammatory factor 1 (AIF1), transcript variant 3, mRNA.	127					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						ATGAGGAAAAAGCGAGAGAAA	0.493													G	31584614	A	G	31584614	2	3	249	1	0	0	0	0	0	0	0	1	424	69	3	4		4	AIF1	6	31584614	Silent	SNP	A	TCGA-41-4097-01A-01D-1353-08	912961	31584614	139530453	25	17397											
C6orf70	55780	broad.mit.edu	37	6	170156477	170156477	+	Missense_Mutation	SNP	C	C	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:170156477C>A	uc003qxg.1	+	3	392	c.359C>A	c.(358-360)cCt>cAt	p.P120H	C6orf70_uc011ehb.1_5'UTR|C6orf70_uc003qxh.1_Missense_Mutation_p.P120H|C6orf70_uc010kky.1_5'UTR	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	120						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CTACAATCTCCTGCTATTTCT	0.348													A	170156477	C	A	170156477	3	1	249	1	0	0	0	0	1	0	0	0	2370	681	24	5	373	5	C6orf70	6	170156477	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	138571863	170156477	958590	26	17398											
IQCE	23288	broad.mit.edu	37	7	2613077	2613077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:2613077C>A	uc003sml.1	+	5	604	c.420C>A	c.(418-420)taC>taA	p.Y140*	IQCE_uc010ksm.1_Nonsense_Mutation_p.Y140*|IQCE_uc011jvy.1_Nonsense_Mutation_p.Y124*|IQCE_uc011jvz.1_Nonsense_Mutation_p.Y75*|IQCE_uc003smo.4_Nonsense_Mutation_p.Y140*|IQCE_uc003smk.4_Nonsense_Mutation_p.Y124*|IQCE_uc003smn.4_Nonsense_Mutation_p.Y75*	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	140										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CTCCTGTCTACAGAGAAAAAG	0.343													A	2613077	C	A	2613077	4	1	249	1	0	0	0	0	0	1	0	0	7806	489	17	5	442	5	IQCE	7	2613077	Nonsense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		2613077	156525586	27	17399											
MMD2	221938	broad.mit.edu	37	7	4947054	4947054	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:4947054G>T	uc003sno.4	-	6	982	c.786C>A	c.(784-786)agC>agA	p.S262R	MMD2_uc003snl.1_Intron|MMD2_uc003snn.4_Missense_Mutation_p.S238R|MMD2_uc010ksq.3_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	262						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCTGCAGGGTGCTGGGCAGAT	0.542													T	4947054	G	T	4947054	3	4	249	1	0	0	0	0	1	0	0	0	9644	1310	46	5	30	5	MMD2	7	4947054	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	2333977	4947054	154191609	28	17400											
MLL3	58508	broad.mit.edu	37	7	151945049	151945049	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:151945049C>G	uc003wla.3	-	13	2689	c.2470G>C	c.(2470-2472)Ggc>Cgc	p.G824R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	824					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.I823fs*5(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTACCCATGCCAATTTTTGGA	0.408			N		medulloblastoma								G	151945049	C	G	151945049	3	3	249	1	0	0	0	0	1	0	0	0	9622	594	21	5	12449	5	MLL3	7	151945049	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	146997995	151945049	7193614	29	17401											
ARHGEF10	9639	broad.mit.edu	37	8	1871746	1871746	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:1871746C>T	uc003wpr.3	+	19	2550	c.2372C>T	c.(2371-2373)cCc>cTc	p.P791L	ARHGEF10_uc003wpq.1_Missense_Mutation_p.P815L|ARHGEF10_uc003wps.3_Missense_Mutation_p.P753L|ARHGEF10_uc003wpv.3_Missense_Mutation_p.P524L|ARHGEF10_uc010lre.3_Missense_Mutation_p.P471L	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	816					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)		TTACAGCTTCCCGGGAAGCAG	0.423													T	1871746	C	T	1871746	3	4	249	1	0	0	0	0	1	0	0	0	894	623	22	3	2446	3	ARHGEF10	8	1871746	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		1871746	144492276	30	17402											
CSPP1	79848	broad.mit.edu	37	8	68024278	68024278	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:68024278G>A	uc003xxi.3	+	10	1328	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	CSPP1_uc003xxg.1_Missense_Mutation_p.E425K|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.E398K|CSPP1_uc003xxk.3_Missense_Mutation_p.E104K	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	433						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACAAATGGCTGAGCAACAGAG	0.353													A	68024278	G	A	68024278	3	1	249	1	0	0	0	0	1	0	0	0	3962	1291	45	3	1339	3	CSPP1	8	68024278	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	66152532	68024278	78339744	31	17403											
SULF1	23213	broad.mit.edu	37	8	70512942	70512942	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:70512942G>A	uc003xyg.2	+	7	1400	c.839G>A	c.(838-840)cGc>cAc	p.R280H	SULF1_uc010lza.1_Missense_Mutation_p.R280H|SULF1_uc003xyd.2_Missense_Mutation_p.R280H|SULF1_uc003xye.2_Missense_Mutation_p.R280H|SULF1_uc003xyf.2_Missense_Mutation_p.R280H|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	280					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTCTACAGCGCAAAAGGCTC	0.433													A	70512942	G	A	70512942	3	1	249	1	0	0	0	0	1	0	0	0	15369	1087	38	1	857	1	SULF1	8	70512942	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	2488664	70512942	75851080	32	17404											
ZFHX4	79776	broad.mit.edu	37	8	77617628	77617628	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:77617628G>A	uc003yau.2	+	1	1692	c.1305G>A	c.(1303-1305)atG>atA	p.M435I	ZFHX4_uc003yat.1_Missense_Mutation_p.M435I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M435I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	435						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			CTAGCAAGATGTCAGAGAGCA	0.488										HNSCC(33;0.089)			A	77617628	G	A	77617628	3	1	249	1	0	0	0	0	1	0	0	0	17632	1377	48	3	1307	3	ZFHX4	8	77617628	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	7104686	77617628	68746394	33	17405											
RGS22	26166	broad.mit.edu	37	8	101018320	101018320	+	Silent	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:101018320T>C	uc003yjb.1	-	15	2574	c.2379A>G	c.(2377-2379)gaA>gaG	p.E793E	RGS22_uc003yja.1_Silent_p.E612E|RGS22_uc003yjc.1_Silent_p.E781E|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Silent_p.E182E	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	793					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTGTCGAGTTTCTTCCACCA	0.373													C	101018320	T	C	101018320	2	2	249	1	0	0	0	0	0	0	0	1	13305	1838	64	4		4	RGS22	8	101018320	Silent	SNP	T	TCGA-41-4097-01A-01D-1353-08	23400692	101018320	45345702	34	17406											
ANKS6	203286	broad.mit.edu	37	9	101530526	101530526	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:101530526C>T	uc004ayu.3	-	10	2000	c.1979G>A	c.(1978-1980)aGc>aAc	p.S660N	ANKS6_uc004ayv.2_Missense_Mutation_p.S122N|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.S359N	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	660	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATTGTCTATGCTGCCACCTGA	0.537													T	101530526	C	T	101530526	3	4	249	1	0	0	0	0	1	0	0	0	692	797	28	3	656	3	ANKS6	9	101530526	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		101530526	39682905	35	17407											
OR13C4	138804	broad.mit.edu	37	9	107288582	107288582	+	Silent	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:107288582T>C	uc011lvn.2	-	0	909	c.909A>G	c.(907-909)gtA>gtG	p.V303V		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V303L(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TAGCAGCTTTTACATCTTTAT	0.373													C	107288582	T	C	107288582	2	2	249	1	0	0	0	0	0	0	0	1	10936	1741	61	4		4	OR13C4	9	107288582	Silent	SNP	T	TCGA-41-4097-01A-01D-1353-08	5758056	107288582	33924849	36	17408											
SARDH	1757	broad.mit.edu	37	9	136594905	136594905	+	Missense_Mutation	SNP	C	C	G	rs141160856	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:136594905C>G	uc004cep.4	-	5	1031	c.897G>C	c.(895-897)gaG>gaC	p.E299D	SARDH_uc004ceo.3_Missense_Mutation_p.E299D|SARDH_uc011mdo.2_Missense_Mutation_p.E131D|SARDH_uc011mdn.2_Missense_Mutation_p.E299D	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	299					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTCGATGCGCTCGGTGACGA	0.632													G	136594905	C	G	136594905	3	3	249	1	0	0	0	0	1	0	0	0	13841	796	28	5	1923	5	SARDH	9	136594905	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	29306323	136594905	4618526	37	17409											
ZMIZ1	57178	broad.mit.edu	37	10	81066012	81066012	+	Missense_Mutation	SNP	A	A	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:81066012A>C	uc001kaf.2	+	21	3151	c.2579A>C	c.(2578-2580)gAg>gCg	p.E860A	ZMIZ1_uc001kag.2_Missense_Mutation_p.E736A|ZMIZ1_uc010qlq.1_Missense_Mutation_p.E13A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	860					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AATGTCATGGAGATGATCGCA	0.612													C	81066012	A	C	81066012	3	2	249	1	0	0	0	0	1	0	0	0	17693	304	11	5	2649	5	ZMIZ1	10	81066012	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08		81066012	54468735	38	17410											
PTEN	5728	broad.mit.edu	37	10	89690814	89690814	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:89690814G>C	uc001kfb.3	+	3	1253	c.221G>C	c.(220-222)aGa>aCa	p.R74T	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	74	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.E73fs*25(2)|p.Y27fs*1(2)|p.R74fs*25(2)|p.Y27_N212>Y(2)|p.E73*(1)|p.R74I(1)|p.E73fs*4(1)|p.E73V(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTGCTGAAAGACATTATGAC	0.313		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89690814	G	C	89690814	3	2	249	1	0	0	0	0	1	0	0	0	12738	942	33	5	235	5	PTEN	10	89690814	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	8624802	89690814	45843933	39	17411											
PRLHR	2834	broad.mit.edu	37	10	120354176	120354176	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:120354176G>A	uc001ldp.1	-	1	720	c.581C>T	c.(580-582)gCc>gTc	p.A194V	PRLHR_uc021pzm.1_Missense_Mutation_p.A194V	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	194				A -> P (in Ref. 1; AAC50504).	female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GTGCACGGCGGCGGGCAGCGC	0.716													A	120354176	G	A	120354176	3	1	249	1	0	0	0	0	1	0	0	0	12530	1203	42	3	535	3	PRLHR	10	120354176	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	30663362	120354176	15180571	40	17412											
INPP5A	3632	broad.mit.edu	37	10	134523875	134523875	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:134523875G>C	uc001llp.3	+	7	810	c.562G>C	c.(562-564)Gat>Cat	p.D188H	INPP5A_uc001llo.1_Missense_Mutation_p.D188H|INPP5A_uc001llq.3_Missense_Mutation_p.D140H	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	188					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TCTTTTCCATGATGCTTCCAA	0.562													C	134523875	G	C	134523875	3	2	249	1	0	0	0	0	1	0	0	0	7754	1290	45	5	592	5	INPP5A	10	134523875	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	14169699	134523875	1010872	41	17413											
BBOX1	8424	broad.mit.edu	37	11	27114719	27114719	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:27114719C>T	uc001mre.1	+	4	707	c.339C>T	c.(337-339)tgC>tgT	p.C113C	BBOX1_uc009yih.1_Silent_p.C113C|BBOX1_uc001mrg.1_Silent_p.C113C|BBOX1_uc021qfd.1_Silent_p.C113C	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	113					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TCACAGAATGCCAATACTGGG	0.393													T	27114719	C	T	27114719	2	4	249	1	0	0	0	0	0	0	0	1	1334	747	26	3		3	BBOX1	11	27114719	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08		27114719	107891797	42	17414											
SYT13	57586	broad.mit.edu	37	11	45274269	45274269	+	Silent	SNP	C	C	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:45274269C>A	uc001myq.2	-	3	675	c.549G>T	c.(547-549)gtG>gtT	p.V183V	SYT13_uc009yku.1_Silent_p.V39V	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	183	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GGTTGCTGGTCACAGCTGCAG	0.587											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45274269	C	A	45274269	2	1	249	1	0	0	0	0	0	0	0	1	15466	813	29	5		5	SYT13	11	45274269	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	18159550	45274269	89732247	43	17415											
KCTD14	65987	broad.mit.edu	37	11	77728030	77728030	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:77728030G>A	uc001oyw.4	-	1	402	c.377C>T	c.(376-378)cCa>cTa	p.P126L	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	126	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAAGATCTGTGGCATGTCCTC	0.567													A	77728030	G	A	77728030	3	1	249	1	0	0	0	0	1	0	0	0	8101	1348	47	3	394	3	KCTD14	11	77728030	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	32453761	77728030	57278486	44	17416											
KDM4D	55693	broad.mit.edu	37	11	94731105	94731105	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:94731105C>T	uc021qow.1	+	0	569	c.569C>T	c.(568-570)gCt>gTt	p.A190V	KDM4D_uc001pfe.3_Missense_Mutation_p.A190V	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	190	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCACGTTTGCTTGGCATACA	0.512													T	94731105	C	T	94731105	3	4	249	1	0	0	0	0	1	0	0	0	8131	797	28	3	571	3	KDM4D	11	94731105	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	17003075	94731105	40275411	45	17417											
MLL	4297	broad.mit.edu	37	11	118359396	118359396	+	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:118359396T>C	uc001pta.3	+	10	4423	c.4400T>C	c.(4399-4401)cTg>cCg	p.L1467P	MLL_uc001ptb.3_Missense_Mutation_p.L1467P|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1467					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAGCGCCCTCTGGAGGACCAG	0.433			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								C	118359396	T	C	118359396	3	2	249	1	0	0	0	0	1	0	0	0	9620	1580	55	4	4442	4	MLL	11	118359396	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08	23628291	118359396	16647120	46	17418											
OR4D5	219875	broad.mit.edu	37	11	123810626	123810626	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:123810626C>T	uc001pzk.1	+	0	303	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGACTCAACTCTTCTTCTTCC	0.507													T	123810626	C	T	123810626	2	4	249	1	0	0	0	0	0	0	0	1	11057	900	32	3		3	OR4D5	11	123810626	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	5451230	123810626	11195890	47	17419											
OR10S1	219873	broad.mit.edu	37	11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	rs141270826		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:123847863C>T	uc001pzm.1	-	0	536	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R179C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGAGCAGGCGGAAGGTGAG	0.552													T	123847863	C	T	123847863	3	4	249	1	0	0	0	0	1	0	0	0	10918	768	27	1	463	1	OR10S1	11	123847863	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	37237	123847863	11158653	48	17420											
PATE2	399967	broad.mit.edu	37	11	125648646	125648646	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:125648646C>T	uc001qcu.3	-	0	69	c.23G>A	c.(22-24)gGc>gAc	p.G8D	PATE2_uc010sbj.2_Missense_Mutation_p.G8D	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN	Homo sapiens prostate and testis expressed 2 (PATE2), mRNA.	8						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AAAGACTGTGCCCAGGAGAAA	0.522													T	125648646	C	T	125648646	3	4	249	1	0	0	0	0	1	0	0	0	11474	739	26	3	334	3	PATE2	11	125648646	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	1800783	125648646	9357870	49	17421											
ANO2	57101	broad.mit.edu	37	12	5687643	5687643	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:5687643G>C	uc001qnm.2	-	21	2347	c.2275C>G	c.(2275-2277)Ccc>Gcc	p.P759A		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	764						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTGCCAGGGGAAAGGAGGCC	0.537													C	5687643	G	C	5687643	3	2	249	1	0	0	0	0	1	0	0	0	697	1174	41	5	741	5	ANO2	12	5687643	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		5687643	128164252	50	17422											
MLL2	8085	broad.mit.edu	37	12	49432573	49432573	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:49432573C>G	uc001rta.4	-	33	8566	c.8566G>C	c.(8566-8568)Gga>Cga	p.G2856R		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2856					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTGGAAATTCCCGCCAACGGG	0.597			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			G	49432573	C	G	49432573	3	3	249	1	0	0	0	0	1	0	0	0	9621	632	22	5	8131	5	MLL2	12	49432573	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	43744930	49432573	84419322	51	17423											
CALCOCO1	57658	broad.mit.edu	37	12	54105903	54105903	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:54105903C>G	uc001sef.3	-	14	2045	c.1901G>C	c.(1900-1902)gGc>gCc	p.G634A	CALCOCO1_uc001see.3_Missense_Mutation_p.G159A|CALCOCO1_uc010som.2_Missense_Mutation_p.G549A|CALCOCO1_uc010son.2_Missense_Mutation_p.G511A|CALCOCO1_uc009znd.3_Missense_Mutation_p.G633A|CALCOCO1_uc001seg.3_Missense_Mutation_p.G459A|CALCOCO1_uc001seh.2_3'UTR	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	634	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGTAAAGCCACTAAGAGA	0.577													G	54105903	C	G	54105903	3	3	249	1	0	0	0	0	1	0	0	0	2577	739	26	5	178	5	CALCOCO1	12	54105903	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	4673330	54105903	79745992	52	17424											
SUOX	6821	broad.mit.edu	37	12	56398139	56398139	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:56398139C>G	uc001six.3	+	5	1292	c.966C>G	c.(964-966)gaC>gaG	p.D322E	SUOX_uc001siy.3_Missense_Mutation_p.D322E|SUOX_uc001siz.3_Missense_Mutation_p.D322E|SUOX_uc001sja.3_Missense_Mutation_p.D322E	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322	Molybdenum-pterin domain (By similarity).|Molybdenum-pterin-binding (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AGGGACTGGACTCAGACCCTA	0.607													G	56398139	C	G	56398139	3	3	249	1	0	0	0	0	1	0	0	0	15392	564	20	5	976	5	SUOX	12	56398139	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	2292236	56398139	77453756	53	17425											
LRRIQ1	84125	broad.mit.edu	37	12	85450952	85450952	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:85450952C>G	uc001tac.3	+	7	2492	c.2381C>G	c.(2380-2382)aCt>aGt	p.T794S	LRRIQ1_uc021rbo.1_Missense_Mutation_p.T672S|LRRIQ1_uc001taa.1_Missense_Mutation_p.T769S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	794										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)		CCTTGGGATACTTTACAGCAG	0.313													G	85450952	C	G	85450952	3	3	249	1	0	0	0	0	1	0	0	0	9029	565	20	5	2407	5	LRRIQ1	12	85450952	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	29052813	85450952	48400943	54	17426											
ISCU	23479	broad.mit.edu	37	12	108962628	108962628	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:108962628A>G	uc010sxc.2	+	4	545	c.440A>G	c.(439-441)aAg>aGg	p.K147R	ISCU_uc010sxb.1_3'UTR|ISCU_uc001tnc.4_Missense_Mutation_p.K122R|ISCU_uc009zuy.3_3'UTR|ISCU_uc010sxd.2_3'UTR|ISCU_uc021rdk.1_5'Flank	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN	Homo sapiens iron-sulfur cluster scaffold homolog (E. coli) (ISCU), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	147					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GATGCAATCAAGGCCGCCCTG	0.478													G	108962628	A	G	108962628	3	3	249	1	0	0	0	0	1	0	0	0	7852	72	3	4	383	4	ISCU	12	108962628	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08	23511676	108962628	24889267	55	17427											
HNF1A	6927	broad.mit.edu	37	12	121426701	121426701	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:121426701G>T	uc001tzg.3	+	1	415	c.392G>T	c.(391-393)cGg>cTg	p.R131L	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.R131L|HNF1A_uc001tzf.3_Missense_Mutation_p.R131L|HNF1A_uc010szn.2_Missense_Mutation_p.R131L|HNF1A_uc021rfa.1_Missense_Mutation_p.R131L|HNF1A_uc021rfb.1_Intron|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	131	Interaction with DNA.		R -> Q (in MODY3; expected to interfere with DNA binding).|R -> W (in MODY3; expected to interfere with DNA binding).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R131W(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCCCACAGCGGGAGGTGGTC	0.622									Hepatic Adenoma, Familial Clustering of				T	121426701	G	T	121426701	3	4	249	1	0	0	0	0	1	0	0	0	7251	1116	39	5	398	5	HNF1A	12	121426701	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	12464073	121426701	12425194	56	17428											
GOLGA3	2802	broad.mit.edu	37	12	133383767	133383767	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:133383767C>T	uc001ukz.1	-	5	1845	c.1286G>A	c.(1285-1287)aGt>aAt	p.S429N	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S429N|GOLGA3_uc001ulb.3_Missense_Mutation_p.S429N	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	429					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGTTACCTGACTCGCCTCCAG	0.547													T	133383767	C	T	133383767	3	4	249	1	0	0	0	0	1	0	0	0	6554	565	20	3	3424	3	GOLGA3	12	133383767	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	11957066	133383767	468128	57	17429											
GSX1	219409	broad.mit.edu	37	13	28367747	28367747	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr13:28367747G>A	uc001urr.1	+	1	505	c.457G>A	c.(457-459)Gct>Act	p.A153T		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Homo sapiens GS homeobox 1 (GSX1), mRNA.	153					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GATGCGCACGGCTTTCACCAG	0.577													A	28367747	G	A	28367747	3	1	249	1	0	0	0	0	1	0	0	0	6849	1203	42	3	463	3	GSX1	13	28367747	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		28367747	86802131	58	17430											
NBEA	26960	broad.mit.edu	37	13	35883701	35883701	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr13:35883701G>C	uc021rid.1	+	35	6409	c.5875G>C	c.(5875-5877)Gca>Cca	p.A1959P	NBEA_uc021ric.1_Missense_Mutation_p.A1956P|NBEA_uc010abi.3_Missense_Mutation_p.A615P	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1959						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGCAGGACTTGCATTTATTGA	0.343													C	35883701	G	C	35883701	3	2	249	1	0	0	0	0	1	0	0	0	10187	1319	46	5	6017	5	NBEA	13	35883701	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	7515954	35883701	79286177	59	17431											
RNF31	55072	broad.mit.edu	37	14	24620756	24620756	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:24620756G>C	uc001wmn.1	+	9	2049	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	RNF31_uc001wml.1_Missense_Mutation_p.Q449H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Q359H|RNF31_uc001wmo.1_Missense_Mutation_p.Q67H|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	600	Interaction with RBCK1.|UBA.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CATTGTTCCAGCACGGAGGTG	0.627													C	24620756	G	C	24620756	3	2	249	1	0	0	0	0	1	0	0	0	13487	962	34	5	1838	5	RNF31	14	24620756	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		24620756	82728784	60	17432											
GPR65	8477	broad.mit.edu	37	14	88477519	88477519	+	Missense_Mutation	SNP	G	G	A	rs142375010	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:88477519G>A	uc021rxh.1	+	0	328	c.328G>A	c.(328-330)Gtt>Att	p.V110I	GPR65_uc001xvv.3_Missense_Mutation_p.V110I	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	110					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.A109V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGCATTGCCGTTGATCGGTA	0.433													A	88477519	G	A	88477519	3	1	249	1	0	0	0	0	1	0	0	0	6706	1145	40	1	330	1	GPR65	14	88477519	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	63856763	88477519	18872021	61	17433											
AHNAK2	113146	broad.mit.edu	37	14	105405535	105405535	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:105405535G>A	uc010axc.1	-	6	16373	c.16253C>T	c.(16252-16254)gCc>gTc	p.A5418V	AHNAK2_uc021sen.1_Missense_Mutation_p.A815V|AHNAK2_uc021seo.1_Missense_Mutation_p.A416V|AHNAK2_uc001ypx.2_Missense_Mutation_p.A5318V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5418						nucleus				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)			ATCAATATTGGCCTCTGGACA	0.557													A	105405535	G	A	105405535	3	1	249	1	0	0	0	0	1	0	0	0	415	1203	42	3	1138	3	AHNAK2	14	105405535	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	16928016	105405535	1944005	62	17434											
SECISBP2L	9728	broad.mit.edu	37	15	49284790	49284790	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:49284790C>T	uc001zxe.2	-	17	3221	c.2957G>A	c.(2956-2958)gGc>gAc	p.G986D	SECISBP2L_uc001zxd.2_Missense_Mutation_p.G941D	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	986										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ttcAAGCATGCCAGGTACAAG	0.468													T	49284790	C	T	49284790	3	4	249	1	0	0	0	0	1	0	0	0	14007	739	26	3	352	3	SECISBP2L	15	49284790	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		49284790	53246602	63	17435											
SLC27A2	11001	broad.mit.edu	37	15	50497504	50497504	+	Missense_Mutation	SNP	G	G	A	rs141444028		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:50497504G>A	uc001zxw.3	+	3	1148	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	SLC27A2_uc010bes.3_Missense_Mutation_p.V253I|SLC27A2_uc001zxx.3_Missense_Mutation_p.V71I	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	306					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AAAATACAACGTCACTGTCAT	0.428													A	50497504	G	A	50497504	3	1	249	1	0	0	0	0	1	0	0	0	14526	1145	40	1	930	1	SLC27A2	15	50497504	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	1212714	50497504	52033888	64	17436											
C15orf39	56905	broad.mit.edu	37	15	75501019	75501019	+	Missense_Mutation	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:75501019C>T	uc002azp.4	+	1	2950	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	C15orf39_uc002azq.4_Missense_Mutation_p.T877M|C15orf39_uc021sqm.1_Missense_Mutation_p.T636M|C15orf39_uc002azr.4_Missense_Mutation_p.T275M	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	877										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CGGCCCACCACGCTGTCGGAG	0.667													T	75501019	C	T	75501019	3	4	249	1	0	0	0	0	1	0	0	0	1793	536	19	1	2632	1	C15orf39	15	75501019	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	25003515	75501019	27030373	65	17437											
C15orf27	123591	broad.mit.edu	37	15	76484332	76484332	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:76484332G>A	uc002bbq.3	+	8	947	c.792G>A	c.(790-792)gcG>gcA	p.A264A	C15orf27_uc010bkp.3_Silent_p.A80A|C15orf27_uc002bbr.3_Silent_p.A80A|C15orf27_uc002bbs.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	264						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGCTGCGCGCGCACCTGGCGC	0.716													A	76484332	G	A	76484332	2	1	249	1	0	0	0	0	0	0	0	1	1788	1074	38	1		1	C15orf27	15	76484332	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	983313	76484332	26047060	66	17438											
ZNF668	79759	broad.mit.edu	37	16	31072650	31072650	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr16:31072650C>T	uc021tgt.1	-	3	2024	c.1668G>A	c.(1666-1668)cgG>cgA	p.R556R	ZNF668_uc010cag.2_Silent_p.R533R|ZNF668_uc010caf.3_Silent_p.R533R|ZNF668_uc002eao.3_Silent_p.R533R	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	533			R -> Q (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R556R(1)|p.R556Q(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCGCTCGTGCCGACGCAGCA	0.672													T	31072650	C	T	31072650	2	4	249	1	0	0	0	0	0	0	0	1	18072	726	26	3		3	ZNF668	16	31072650	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08		31072650	59282103	67	17439											
CPNE7	27132	broad.mit.edu	37	16	89655119	89655119	+	Missense_Mutation	SNP	C	C	T	rs145109453		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr16:89655119C>T	uc002fnp.3	+	11	1319	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	CPNE7_uc002fnq.3_Missense_Mutation_p.R322W	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	397	VWFA.		R -> Q (in dbSNP:rs28568523).		lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TGGAGACCCGCGGAACAGCTG	0.647													T	89655119	C	T	89655119	3	4	249	1	0	0	0	0	1	0	0	0	3817	759	27	1	1235	1	CPNE7	16	89655119	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	58582469	89655119	699634	68	17440											
NF1	4763	broad.mit.edu	37	17	29508778	29508778	+	Nonsense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:29508778C>G	uc002hgg.3	+	6	1088	c.705C>G	c.(703-705)taC>taG	p.Y235*	NF1_uc002hge.2_Nonsense_Mutation_p.Y235*|NF1_uc002hgf.2_Nonsense_Mutation_p.Y235*|NF1_uc002hgh.3_Nonsense_Mutation_p.Y235*|NF1_uc010csn.2_Nonsense_Mutation_p.Y95*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	235					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAACTGTACCAGATCCCAC	0.313			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29508778	C	G	29508778	4	3	249	1	0	0	0	0	0	1	0	0	10356	518	18	5	731	5	NF1	17	29508778	Nonsense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		29508778	51686432	69	17441											
SLC4A1	6521	broad.mit.edu	37	17	42330723	42330723	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:42330723G>C	uc002igf.4	-	16	2223	c.2074C>G	c.(2074-2076)Cct>Gct	p.P692A	SLC4A1_uc021tyc.1_Missense_Mutation_p.P326A	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	692	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCGCTCAGGTTTGCTGACA	0.612													C	42330723	G	C	42330723	3	2	249	1	0	0	0	0	1	0	0	0	14650	1261	44	5	677	5	SLC4A1	17	42330723	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	12821945	42330723	38864487	70	17442											
RNF213	57674	broad.mit.edu	37	17	78282912	78282912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:78282912G>T	uc002jyh.2	+	14	2886	c.2743G>T	c.(2743-2745)Gag>Tag	p.E915*	RNF213_uc002jyf.3_Nonsense_Mutation_p.E866*|RNF213_uc021uen.1_Nonsense_Mutation_p.E866*|RNF213_uc002jyg.1_Nonsense_Mutation_p.E597*	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	866										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAGTTTTACGAGCTGCCAGC	0.502													T	78282912	G	T	78282912	4	4	249	1	0	0	0	0	0	1	0	0	13477	1059	37	5	2797	5	RNF213	17	78282912	Nonsense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	35952189	78282912	2912298	71	17443											
CNDP2	55748	broad.mit.edu	37	18	72167228	72167228	+	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr18:72167228T>C	uc002llm.2	+	1	279	c.20T>C	c.(19-21)cTg>cCg	p.L7P	CNDP2_uc021ulm.1_Non-coding_Transcript|CNDP2_uc002lln.2_Missense_Mutation_p.L7P	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	7						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTCACTACCCTGTTTAAGTAC	0.458													C	72167228	T	C	72167228	3	2	249	1	0	0	0	0	1	0	0	0	3594	1580	55	4	22	4	CNDP2	18	72167228	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08		72167228	5910020	72	17444											
ITPKC	80271	broad.mit.edu	37	19	41245286	41245286	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:41245286G>C	uc002oot.3	+	6	1906	c.1873G>C	c.(1873-1875)Gtg>Ctg	p.V625L		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	625						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTCCTCTTCGTGCACGACCA	0.652													C	41245286	G	C	41245286	3	2	249	1	0	0	0	0	1	0	0	0	7919	1145	40	5	1899	5	ITPKC	19	41245286	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		41245286	17883697	73	17445											
SIGLEC5	8778	broad.mit.edu	37	19	52132644	52132644	+	Missense_Mutation	SNP	T	T	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:52132644T>A	uc002pxe.3	-	2	806	c.667A>T	c.(667-669)Acc>Tcc	p.T223S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	223	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			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)		CTCTCCGTGGTCACCTGAGCT	0.622													A	52132644	T	A	52132644	3	1	249	1	0	0	0	0	1	0	0	0	14311	1667	58	5	1016	5	SIGLEC5	19	52132644	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08	10887358	52132644	6996339	74	17446											
LILRB3	79168	broad.mit.edu	37	19	54744985	54744985	+	Missense_Mutation	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:54744985G>T	uc010erh.1	-						LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.S226Y|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.S226Y|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.S226Y|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.S226Y|LILRB3_uc010yep.1_Missense_Mutation_p.S226Y|LILRB3_uc010yeq.1_Missense_Mutation_p.S226Y|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.S226Y|LILRB3_uc002qev.1_Missense_Mutation_p.S87Y	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			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)		GGTCAGGAGGGAGGGCTTCCT	0.632													T	54744985	G	T	54744985	3	4	249	1	0	0	0	0	1	0	0	0	8792	1174	41	5		5	LILRB3	19	54744985	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	2612341	54744985	4383998	75	17447											
ZNF460	10794	broad.mit.edu	37	19	57802944	57802944	+	Missense_Mutation	SNP	C	C	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:57802944C>G	uc002qog.2	+	2	1357	c.1035C>G	c.(1033-1035)ttC>ttG	p.F345L	ZNF460_uc010ygv.1_Missense_Mutation_p.F304L	NM_006635	NP_006626	Q14592	ZN460_HUMAN	Homo sapiens zinc finger protein 460 (ZNF460), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAAGGCCTTCAACTGCAGGT	0.488													G	57802944	C	G	57802944	3	3	249	1	0	0	0	0	1	0	0	0	17921	825	29	5	1045	5	ZNF460	19	57802944	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	3057959	57802944	1326039	76	17448											
SCAND1	51282	broad.mit.edu	37	20	34542061	34542061	+	Missense_Mutation	SNP	T	T	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr20:34542061T>C	uc002xen.2	-	1	380	c.335A>G	c.(334-336)gAg>gGg	p.E112G	SCAND1_uc021wct.1_Missense_Mutation_p.E49G|SCAND1_uc002xep.3_Missense_Mutation_p.E49G|SCAND1_uc002xeo.3_Missense_Mutation_p.E49G	NM_033630	NP_361012	P57086	SCND1_HUMAN	Homo sapiens SCAN domain containing 1 (SCAND1), transcript variant 2, mRNA.	49	SCAN box.				viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity					Breast(12;0.00631)|all_lung(11;0.0233)					ACTGGAAGGCTCAGGGGCAGG	0.711													C	34542061	T	C	34542061	3	2	249	1	0	0	0	0	1	0	0	0	13875	1551	54	4	397	4	SCAND1	20	34542061	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08		34542061	28483459	77	17449											
DLGAP4	22839	broad.mit.edu	37	20	35060225	35060225	+	Silent	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr20:35060225G>A	uc002xff.3	+	2	540	c.105G>A	c.(103-105)tcG>tcA	p.S35S	DLGAP4_uc010zvp.2_Silent_p.S35S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	35					cell-cell signaling	membrane	protein binding			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)				ACCTGCTGTCGCCCACGGAGG	0.701													A	35060225	G	A	35060225	2	1	249	1	0	0	0	0	0	0	0	1	4562	1074	38	1		1	DLGAP4	20	35060225	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	518164	35060225	27965295	78	17450											
SHANK3	85358	broad.mit.edu	37	22	51160153	51160153	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr22:51160153A>G	uc003bne.1	+	21	3940	c.3940A>G	c.(3940-3942)Agg>Ggg	p.R1314G	SHANK3_uc003bnf.1_Missense_Mutation_p.R761G	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1314										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGAGGAGACCAGGGAGGAGCT	0.677													G	51160153	A	G	51160153	3	3	249	1	0	0	0	0	1	0	0	0	14266	179	7	4	4026	4	SHANK3	22	51160153	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08		51160153	144413	79	17451											
APOO	79135	broad.mit.edu	37	X	23899048	23899048	+	Missense_Mutation	SNP	G	G	A			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:23899048G>A	uc004dax.3	-	1	269	c.31C>T	c.(31-33)Cca>Tca	p.P11S	APOO_uc004day.4_Non-coding_Transcript	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.	11					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AGGCTGGCTGGCCCCACGGAC	0.458													A	23899048	G	A	23899048	3	1	249	1	0	0	0	0	1	0	0	0	813	1203	42	3	593	3	APOO	23	23899048	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		23899048	131371512	80	17452											
MAGEB3	4114	broad.mit.edu	37	X	30254384	30254384	+	Missense_Mutation	SNP	A	A	G			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:30254384A>G	uc022bug.1	+	0	343	c.343A>G	c.(343-345)Aca>Gca	p.T115A	MAGEB3_uc004dca.2_Missense_Mutation_p.T115A	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	115	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AATCATGAAGACAAATATGTT	0.403													G	30254384	A	G	30254384	3	3	249	1	0	0	0	0	1	0	0	0	9177	275	10	4	345	4	MAGEB3	23	30254384	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08	6355336	30254384	125016176	81	17453											
CXorf65	158830	broad.mit.edu	37	X	70324148	70324148	+	Silent	SNP	C	C	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:70324148C>T	uc011mpo.2	-	5	658	c.426_splice	c.e5+1	p.P142_splice	CXorf65_uc011mpp.2_Splice_Site_p.P94_splice	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	142										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CAAGTCTTACCGGGACACTCG	0.517													T	70324148	C	T	70324148	2	4	249	1	0	0	0	0	0	0	0	1	4117	666	23	2		2	CXorf65	23	70324148	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	40069764	70324148	84946412	82	17454											
STAG2	10735	broad.mit.edu	37	X	123182854	123182854	+	Splice_Site	SNP	G	G	T			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:123182854G>T	uc004eua.3	+	10	1224	c.820_splice	c.e10-1	p.L274_splice	STAG2_uc004etz.4_Splice_Site_p.L274_splice|STAG2_uc004eub.3_Splice_Site_p.L274_splice|STAG2_uc004euc.3_Splice_Site_p.L274_splice|STAG2_uc004eud.3_Splice_Site_p.L274_splice|STAG2_uc004eue.3_Splice_Site_p.L274_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	274					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTTTTTTACAGCTTCAGGAAA	0.308													T	123182854	G	T	123182854	5	4	249	1	0	0	0	0	0	0	1	0	15242	985	34	5	849	5	STAG2	23	123182854	Splice_Site	SNP	G	TCGA-41-4097-01A-01D-1353-08	52858706	123182854	32087706	83	17455											
BRCC3	79184	broad.mit.edu	37	X	154344437	154344437	+	Missense_Mutation	SNP	G	G	C			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:154344437G>C	uc004fna.3	+	8	837	c.729G>C	c.(727-729)gaG>gaC	p.E243D	BRCC3_uc004fnb.3_Missense_Mutation_p.E218D|BRCC3_uc011mzy.2_Missense_Mutation_p.E219D	NM_024332	NP_077308	P46736	BRCC3_HUMAN	Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.	243					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCAGGAGGAGCAGGATGCGT	0.478													C	154344437	G	C	154344437	3	2	249	1	0	0	0	0	1	0	0	0	1500	962	34	5	763	5	BRCC3	23	154344437	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	31161583	154344437	926123	84	17456											
ZNF642	339559	broad.mit.edu	37	1	40945132	40945132	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:40945132G>A	uc010ojk.2	+	1	393	c.99G>A	c.(97-99)gaG>gaA	p.E33E	ZNF642_uc001cfo.3_Silent_p.E33E|ZNF642_uc009vwb.3_Silent_p.E33E	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	33	SCAN box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W32fs*4(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			CCCTGTGGGAGGATGTGACTA	0.532													A	40945132	G	A	40945132	2	1	250	1	0	0	0	0	0	0	0	1	18055	991	35	3		3	ZNF642	1	40945132	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		40945132	208305489	1	17457											
FLG	2312	broad.mit.edu	37	1	152275826	152275826	+	Missense_Mutation	SNP	C	C	T	rs143233744		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:152275826C>T	uc001ezu.1	-	2	11572	c.11536G>A	c.(11536-11538)Ggc>Agc	p.G3846S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3846	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S3845S(2)		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)			TCACCCTGGCCGGACTGTGAG	0.592									Ichthyosis				T	152275826	C	T	152275826	3	4	250	1	0	0	0	0	1	0	0	0	5922	652	23	2	653	2	FLG	1	152275826	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	111330694	152275826	96974795	2	17458											
FLG	2312	broad.mit.edu	37	1	152275878	152275878	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:152275878C>T	uc001ezu.1	-	2	11520	c.11484G>A	c.(11482-11484)tcG>tcA	p.S3828S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3828	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3827W(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)			CATGGTGACGCGACCCTGAGT	0.587									Ichthyosis				T	152275878	C	T	152275878	2	4	250	1	0	0	0	0	0	0	0	1	5922	755	27	1		1	FLG	1	152275878	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	52	152275878	96974743	3	17459											
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:158627401G>A	uc001fst.1	-	18	2870	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	891					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R891*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463													A	158627401	G	A	158627401	4	1	250	1	0	0	0	0	0	1	0	0	15115	1095	38	1	4724	1	SPTA1	1	158627401	Nonsense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	6351523	158627401	90623220	4	17460											
SPTA1	6708	broad.mit.edu	37	1	158637763	158637763	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:158637763C>G	uc001fst.1	-	14	2122	c.1923G>C	c.(1921-1923)caG>caC	p.Q641H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	641					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I640T(1)|p.Q641R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCCAGTTTTCTGTATGTTTT	0.473													G	158637763	C	G	158637763	3	3	250	1	0	0	0	0	1	0	0	0	15115	912	32	5	5488	5	SPTA1	1	158637763	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	10362	158637763	90612858	5	17461											
C2orf65	130951	broad.mit.edu	37	2	74842218	74842218	+	Missense_Mutation	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:74842218T>C	uc002smy.3	-	2	416	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	C2orf65_uc010ysa.2_Missense_Mutation_p.Q100R|C2orf65_uc002smz.2_Missense_Mutation_p.Q100R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	100					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						CCCTTCTCTCTGTAACATGCG	0.483													C	74842218	T	C	74842218	3	2	250	1	0	0	0	0	1	0	0	0	2184	1580	55	4	1329	4	C2orf65	2	74842218	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08		74842218	168357155	6	17462											
IL18RAP	8807	broad.mit.edu	37	2	103039783	103039783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:103039783C>T	uc002tbx.3	+	2	530	c.46C>T	c.(46-48)Cga>Tga	p.R16*	IL18RAP_uc010fiz.3_5'UTR	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	16					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.R16Q(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCAGGAGAGCGAATTAAAGG	0.408													T	103039783	C	T	103039783	4	4	250	1	0	0	0	0	0	1	0	0	7648	760	27	1	48	1	IL18RAP	2	103039783	Nonsense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	28197565	103039783	140159590	7	17463											
ACOXL	55289	broad.mit.edu	37	2	111850527	111850527	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:111850527C>T	uc010yxk.1	+	16	1750	c.1526C>T	c.(1525-1527)aCg>aTg	p.T509M	ACOXL_uc021vmm.1_Missense_Mutation_p.T362M|ACOXL_uc021vmn.1_Missense_Mutation_p.T332M	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	539					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGCCAGCACGAGGATCAGG	0.483													T	111850527	C	T	111850527	3	4	250	1	0	0	0	0	1	0	0	0	161	536	19	1	1588	1	ACOXL	2	111850527	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	8810744	111850527	131348846	8	17464											
ABCA12	26154	broad.mit.edu	37	2	215855594	215855594	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:215855594C>T	uc002vew.3	-	23	3676	c.3456G>A	c.(3454-3456)tcG>tcA	p.S1152S	ABCA12_uc002vev.3_Silent_p.S834S|ABCA12_uc010zjn.2_Silent_p.S79S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1152					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTGTAGTCCGAAAAATACA	0.388													T	215855594	C	T	215855594	2	4	250	1	0	0	0	0	0	0	0	1	30	639	23	2		2	ABCA12	2	215855594	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	104005067	215855594	27343779	9	17465											
GLB1L	79411	broad.mit.edu	37	2	220108249	220108249	+	Missense_Mutation	SNP	A	A	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:220108249A>T	uc002vkm.3	-	1	286	c.47T>A	c.(46-48)cTc>cAc	p.L16H	GLB1L_uc010zkx.2_Missense_Mutation_p.L16H|GLB1L_uc002vkn.3_Missense_Mutation_p.L16H|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	16					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCAGGCTGAGCGGCAGCAG	0.612													T	220108249	A	T	220108249	3	4	250	1	0	0	0	0	1	0	0	0	6428	304	11	5	1981	5	GLB1L	2	220108249	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	4252655	220108249	23091124	10	17466											
ACSL3	2181	broad.mit.edu	37	2	223781199	223781199	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:223781199A>G	uc002vni.3	+	4	992	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	ACSL3_uc002vnj.3_Missense_Mutation_p.M181V	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	181					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCGTGTTTTATGTATAATTT	0.383			T	ETV1	prostate								G	223781199	A	G	223781199	3	3	250	1	0	0	0	0	1	0	0	0	178	449	16	4	547	4	ACSL3	2	223781199	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	3672950	223781199	19418174	11	17467											
UGT1A1	54579	broad.mit.edu	37	2	234681031	234681031	+	Silent	SNP	C	C	T	rs28900406	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:234681031C>T	uc002vuw.3	+	4	1431	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	UGT1A1_uc002vup.3_Silent_p.P473P|UGT1A1_uc002vur.3_Silent_p.P473P|UGT1A1_uc002vus.3_Silent_p.P473P|UGT1A1_uc002vut.3_Silent_p.P473P|UGT1A1_uc002vuu.3_Silent_p.P208P|UGT1A1_uc002vuv.4_Silent_p.P475P|UGT1A1_uc002vux.3_Silent_p.P477P|UGT1A1_uc002vuy.3_Silent_p.P477P|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Silent_p.P476P	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	476					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.A477S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACCTGCGCCCCGCAGCCCACG	0.602													T	234681031	C	T	234681031	2	4	250	1	0	0	0	0	0	0	0	1	16941	639	23	2		2	UGT1A1	2	234681031	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	10899832	234681031	8518342	12	17468											
CYP8B1	1582	broad.mit.edu	37	3	42916203	42916203	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:42916203G>A	uc003cmh.3	-	0	1431	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	369					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTGCCCACTGGACATCTTCAG	0.592													A	42916203	G	A	42916203	3	1	250	1	0	0	0	0	1	0	0	0	4198	1174	41	3	403	3	CYP8B1	3	42916203	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		42916203	155106227	13	17469											
ACY1	95	broad.mit.edu	37	3	52020670	52020670	+	Silent	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:52020670T>C	uc003dcp.3	+	7	900	c.576T>C	c.(574-576)agT>agC	p.S192S	ACY1_uc011bea.2_Silent_p.S282S|ACY1_uc011beb.2_Silent_p.S192S|ACY1_uc003dcq.3_Silent_p.S192S|ACY1_uc021wzb.1_Silent_p.S157S|ACY1_uc021wzc.1_Silent_p.S120S|ACY1_uc021wzd.1_Silent_p.S192S	NM_000666	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.	192					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GTGAGCGGAGTCCCTGGTGTA	0.567													C	52020670	T	C	52020670	2	2	250	1	0	0	0	0	0	0	0	1	226	1664	58	4		4	ACY1	3	52020670	Silent	SNP	T	TCGA-41-5651-01A-01D-1696-08	9104467	52020670	146001760	14	17470											
PIK3CA	5290	broad.mit.edu	37	3	178916881	178916881	+	Missense_Mutation	SNP	T	T	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:178916881T>G	uc003fjk.3	+	1	425	c.268T>G	c.(268-270)Tgt>Ggt	p.C90G		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	90	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAGACGACTTTGTGACCTTCG	0.373		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916881	T	G	178916881	3	3	250	1	0	0	0	0	1	0	0	0	11913	1812	63	5	270	5	PIK3CA	3	178916881	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08	126896211	178916881	19105549	15	17471											
ABCC5	10057	broad.mit.edu	37	3	183679309	183679309	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:183679309G>A	uc003fmg.3	-	15	2534	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	ABCC5_uc011bqt.2_Missense_Mutation_p.P318L|ABCC5_uc010hxl.3_Missense_Mutation_p.P790L	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	790						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.P790P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCAACTGGCGGTGTCTCTCC	0.478													A	183679309	G	A	183679309	3	1	250	1	0	0	0	0	1	0	0	0	56	1116	39	2	2004	2	ABCC5	3	183679309	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	4762428	183679309	14343121	16	17472											
RAB28	9364	broad.mit.edu	37	4	13481054	13481054	+	Nonsense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr4:13481054C>A	uc003gmu.2	-	2	387	c.172_splice	c.e2+1	p.G58_splice	RAB28_uc003gmv.2_Splice_Site|RAB28_uc003gmt.2_Splice_Site_p.G58_splice|RAB28_uc011bwz.1_Splice_Site_p.G58_splice	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.	58					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						AGTCTCTTACCTGGCAATGTT	0.328													A	13481054	C	A	13481054	4	1	250	1	0	0	0	0	0	1	0	0	12916	695	24	5	657	5	RAB28	4	13481054	Nonsense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		13481054	177673222	17	17473											
GABRA4	2557	broad.mit.edu	37	4	46966998	46966998	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr4:46966998C>A	uc003gxg.3	-	7	2106	c.1123G>T	c.(1123-1125)Gcc>Tcc	p.A375S	GABRA4_uc021xnz.1_Missense_Mutation_p.A356S|GABRA4_uc021xoa.1_Missense_Mutation_p.A305S	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	375					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCAGAGGGGCTTCAGGATGC	0.408													A	46966998	C	A	46966998	3	1	250	1	0	0	0	0	1	0	0	0	6163	797	28	5	549	5	GABRA4	4	46966998	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	33485944	46966998	144187278	18	17474											
CDH12	1010	broad.mit.edu	37	5	21817224	21817224	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:21817224C>A	uc010iuc.2	-	5	1290	c.832G>T	c.(832-834)Gtt>Ttt	p.V278F	CDH12_uc011cno.1_Missense_Mutation_p.V238F|CDH12_uc003jgk.2_Missense_Mutation_p.V278F	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	278	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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						GACTCAGGAACTTTCAAGTGG	0.363										HNSCC(59;0.17)			A	21817224	C	A	21817224	3	1	250	1	0	0	0	0	1	0	0	0	3098	565	20	5	1580	5	CDH12	5	21817224	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		21817224	159098036	19	17475											
HEATR7B2	133558	broad.mit.edu	37	5	41049447	41049447	+	Missense_Mutation	SNP	A	A	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:41049447A>T	uc003jmj.4	-	13	1926	c.1436T>A	c.(1435-1437)aTg>aAg	p.M479K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.M34K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	479							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTCCTCTGCCATAATCAGAAT	0.463													T	41049447	A	T	41049447	3	4	250	1	0	0	0	0	1	0	0	0	7035	217	8	5	3437	5	HEATR7B2	5	41049447	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	19232223	41049447	139865813	20	17476											
MAP1B	4131	broad.mit.edu	37	5	71494424	71494424	+	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:71494424G>T	uc003kbw.4	+	4	5483	c.5242G>T	c.(5242-5244)Gat>Tat	p.D1748Y	MAP1B_uc010iyw.1_Missense_Mutation_p.D1765Y|MAP1B_uc010iyx.1_Missense_Mutation_p.D1622Y|MAP1B_uc010iyy.1_Missense_Mutation_p.D1622Y	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1748						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTCCAAGAAGATACTCTATC	0.478													T	71494424	G	T	71494424	3	4	250	1	0	0	0	0	1	0	0	0	9228	942	33	5	5260	5	MAP1B	5	71494424	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	30444977	71494424	109420836	21	17477											
LHFPL2	10184	broad.mit.edu	37	5	77784735	77784735	+	Silent	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:77784735C>G	uc003kfo.3	-	4	1348	c.672G>C	c.(670-672)ctG>ctC	p.L224L		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	224						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGGCAGATCAGATTTTTCC	0.418													G	77784735	C	G	77784735	2	3	250	1	0	0	0	0	0	0	0	1	8765	813	29	5		5	LHFPL2	5	77784735	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	6290311	77784735	103130525	22	17478											
PKD2L2	27039	broad.mit.edu	37	5	137257377	137257377	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:137257377C>G	uc003lby.3	+	8	1437	c.1381C>G	c.(1381-1383)Caa>Gaa	p.Q461E	PKD2L2_uc003lbw.1_Missense_Mutation_p.Q461E|PKD2L2_uc003lbx.3_Intron|PKD2L2_uc011cyi.1_Missense_Mutation_p.Q69E	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	461						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTATTCAGCAAGCCAATCC	0.308													G	137257377	C	G	137257377	3	3	250	1	0	0	0	0	1	0	0	0	11968	711	25	5	1415	5	PKD2L2	5	137257377	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	59472642	137257377	43657883	23	17479											
ODZ2	57451	broad.mit.edu	37	5	167551889	167551889	+	Silent	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:167551889A>G	uc010jjd.3	+	10	2043	c.2043A>G	c.(2041-2043)ggA>ggG	p.G681G	ODZ2_uc003lzr.4_Silent_p.G449G|ODZ2_uc003lzt.4_Silent_p.G45G|ODZ2_uc010jje.3_5'UTR	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCAGCCACGGAGTCTGTGTGA	0.512													G	167551889	A	G	167551889	2	3	250	1	0	0	0	0	0	0	0	1	10835	291	11	4		4	ODZ2	5	167551889	Silent	SNP	A	TCGA-41-5651-01A-01D-1696-08	30294512	167551889	13363371	24	17480											
TRIM10	10107	broad.mit.edu	37	6	30126364	30126364	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:30126364C>T	uc003npo.3	-	2	644	c.568G>A	c.(568-570)Gca>Aca	p.A190T	TRIM10_uc003npn.2_Missense_Mutation_p.A190T	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	190						cytoplasm	zinc ion binding	p.A190T(1)		ovary(1)	1						CTCAGGTGTGCGAACTCAGAA	0.512													T	30126364	C	T	30126364	3	4	250	1	0	0	0	0	1	0	0	0	16483	768	27	1	985	1	TRIM10	6	30126364	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		30126364	140988703	25	17481											
TAP2	6891	broad.mit.edu	37	6	32782142	32782142	+	Missense_Mutation	SNP	G	G	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:32782142G>C	uc011dqf.1	-	13	2541	c.2419C>G	c.(2419-2421)Ctt>Gtt	p.L807V	TAP2_uc003oca.3_Missense_Mutation_p.L200V|TAP2_uc011dqg.1_Missense_Mutation_p.L200V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TGATCGACAAGGCAGGTGTAG	0.502													C	32782142	G	C	32782142	3	2	250	1	0	0	0	0	1	0	0	0	15548	1000	35	5		5	TAP2	6	32782142	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	2655778	32782142	138332925	26	17482											
DNAH8	1769	broad.mit.edu	37	6	38840400	38840400	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:38840400A>G	uc021yzh.1	+	49	7188	c.7079A>G	c.(7078-7080)aAg>aGg	p.K2360R	DNAH8_uc003ooe.2_Missense_Mutation_p.K2143R	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						ATTCTAATGAAGGCGCAAACA	0.453													G	38840400	A	G	38840400	3	3	250	1	0	0	0	0	1	0	0	0	4607	72	3	4	6610	4	DNAH8	6	38840400	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	6058258	38840400	132274667	27	17483											
KCNK5	8645	broad.mit.edu	37	6	39159464	39159464	+	Silent	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:39159464C>A	uc003oon.3	-	4	1066	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	234					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCAGGCCAGCCCCAAGTAGA	0.577													A	39159464	C	A	39159464	2	1	250	1	0	0	0	0	0	0	0	1	8069	726	26	5		5	KCNK5	6	39159464	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	319064	39159464	131955603	28	17484											
LRFN2	57497	broad.mit.edu	37	6	40360425	40360425	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:40360425C>T	uc003oph.1	-	2	2092	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	543						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGTGGCCACGATGATGCCC	0.607													T	40360425	C	T	40360425	3	4	250	1	0	0	0	0	1	0	0	0	8938	536	19	1	746	1	LRFN2	6	40360425	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	1200961	40360425	130754642	29	17485											
TREML1	340205	broad.mit.edu	37	6	41121571	41121571	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:41121571C>T	uc011duc.2	-	1	345	c.301G>A	c.(301-303)Gag>Aag	p.E101K	TREML1_uc003opx.3_Missense_Mutation_p.E101K|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	101	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCCATACTCGCCAGCATCC	0.602													T	41121571	C	T	41121571	3	4	250	1	0	0	0	0	1	0	0	0	16469	893	31	2	652	2	TREML1	6	41121571	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	761146	41121571	129993496	30	17486											
TDRD6	221400	broad.mit.edu	37	6	46658201	46658201	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:46658201C>G	uc003oyj.3	+	0	2590	c.2336C>G	c.(2335-2337)tCt>tGt	p.S779C	TDRD6_uc010jze.3_Missense_Mutation_p.S779C	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	779					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTCAGAGTGTCTTATGTTGAA	0.388													G	46658201	C	G	46658201	3	3	250	1	0	0	0	0	1	0	0	0	15731	913	32	5	2338	5	TDRD6	6	46658201	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	5536630	46658201	124456866	31	17487											
KIF25	3834	broad.mit.edu	37	6	168443352	168443352	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:168443352C>T	uc003qwk.1	+	7	1203	c.941C>T	c.(940-942)cCg>cTg	p.P314L	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	314					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.P314P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCCATGCCCCGTACCGGAAC	0.652													T	168443352	C	T	168443352	3	4	250	1	0	0	0	0	1	0	0	0	8293	652	23	2	967	2	KIF25	6	168443352	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	121785151	168443352	2671715	32	17488											
ZDHHC4	55146	broad.mit.edu	37	7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:6628405G>A	uc003sqi.3	+	8	1257	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	300						integral to membrane	acyltransferase activity|zinc ion binding	p.R300H(4)|p.Q299*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577													A	6628405	G	A	6628405	3	1	250	1	0	0	0	0	1	0	0	0	17614	1145	40	1	921	1	ZDHHC4	7	6628405	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		6628405	152510258	33	17489											
GHRHR	2692	broad.mit.edu	37	7	31014610	31014610	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:31014610C>T	uc003tbx.3	+	8	885	c.837C>T	c.(835-837)tcC>tcT	p.S279S	GHRHR_uc003tby.3_Silent_p.S215S|GHRHR_uc003tbz.3_Missense_Mutation_p.P46S	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	279					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACGACACCTCCCCCTACTGGT	0.587											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	31014610	C	T	31014610	2	4	250	1	0	0	0	0	0	0	0	1	6373	610	22	3		3	GHRHR	7	31014610	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	24386205	31014610	128124053	34	17490											
SAMD9L	219285	broad.mit.edu	37	7	92765183	92765183	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:92765183C>T	uc003umh.1	-	4	1318	c.102G>A	c.(100-102)ggG>ggA	p.G34G	SAMD9L_uc003umj.1_Silent_p.G34G|SAMD9L_uc003umi.1_Silent_p.G34G|SAMD9L_uc010lfb.1_Silent_p.G34G|SAMD9L_uc003umk.1_Silent_p.G34G|SAMD9L_uc010lfc.1_Silent_p.G34G|SAMD9L_uc010lfd.1_Silent_p.G34G|SAMD9L_uc022ahh.1_Silent_p.G34G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	34	SAM.									central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCAGAATTTGCCCGTATTGCT	0.403													T	92765183	C	T	92765183	2	4	250	1	0	0	0	0	0	0	0	1	13827	726	26	3		3	SAMD9L	7	92765183	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	61750573	92765183	66373480	35	17491											
CNTNAP2	26047	broad.mit.edu	37	7	147844679	147844679	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:147844679G>A	uc003weu.2	+	16	3167	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	884	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R884W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTGGCACCGGGTCACTGCA	0.582										HNSCC(39;0.1)			A	147844679	G	A	147844679	3	1	250	1	0	0	0	0	1	0	0	0	3647	1116	39	2	2717	2	CNTNAP2	7	147844679	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	55079496	147844679	11293984	36	17492											
UBE3C	9690	broad.mit.edu	37	7	156963055	156963055	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:156963055G>A	uc010lqs.3	+	3	565	c.253G>A	c.(253-255)Gct>Act	p.A85T	UBE3C_uc003wnf.2_Missense_Mutation_p.A42T|UBE3C_uc003wng.2_Missense_Mutation_p.A85T	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	85					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.G84G(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)		GTCCGGGGGCGCTTTTCCCAT	0.398													A	156963055	G	A	156963055	3	1	250	1	0	0	0	0	1	0	0	0	16878	1087	38	1	267	1	UBE3C	7	156963055	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	9118376	156963055	2175608	37	17493											
ADAM28	10863	broad.mit.edu	37	8	24199261	24199261	+	Silent	SNP	C	C	T	rs149263503	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:24199261C>T	uc003xdy.3	+	15	1904	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G294G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	607	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G607G(3)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTAAGTGTGGCGATAACAAGG	0.408													T	24199261	C	T	24199261	2	4	250	1	0	0	0	0	0	0	0	1	246	755	27	1		1	ADAM28	8	24199261	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08		24199261	122164761	38	17494											
PXDNL	137902	broad.mit.edu	37	8	52387699	52387699	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:52387699C>T	uc003xqu.4	-	6	628	c.527G>A	c.(526-528)cGt>cAt	p.R176H		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	176					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			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)				GGAATCCAGACGCCTAGGCAT	0.468													T	52387699	C	T	52387699	3	4	250	1	0	0	0	0	1	0	0	0	12848	536	19	1	3932	1	PXDNL	8	52387699	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	28188438	52387699	93976323	39	17495											
PKHD1L1	93035	broad.mit.edu	37	8	110454293	110454293	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:110454293C>A	uc003yne.3	+	34	4366	c.4262C>A	c.(4261-4263)aCa>aAa	p.T1421K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1421	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			GTGGGGGACACAGTGGCATGG	0.418										HNSCC(38;0.096)			A	110454293	C	A	110454293	3	1	250	1	0	0	0	0	1	0	0	0	11972	478	17	5	4400	5	PKHD1L1	8	110454293	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	58066594	110454293	35909729	40	17496											
ADCY8	114	broad.mit.edu	37	8	132002709	132002709	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:132002709C>T	uc003ytd.4	-	1	1296	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ADCY8_uc010mds.3_Missense_Mutation_p.R347H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	347					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAAGCTTGGCGCTGGGCCCG	0.522										HNSCC(32;0.087)			T	132002709	C	T	132002709	3	4	250	1	0	0	0	0	1	0	0	0	300	768	27	1	2783	1	ADCY8	8	132002709	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	21548416	132002709	14361313	41	17497											
ACO1	48	broad.mit.edu	37	9	32430435	32430435	+	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:32430435G>T	uc003zqw.4	+	13	1744	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	ACO1_uc010mjh.1_Missense_Mutation_p.G364V|ACO1_uc003zqx.4_Missense_Mutation_p.G530V|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	530					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GTAGCTGTTGGAGTACTATCT	0.453													T	32430435	G	T	32430435	3	4	250	1	0	0	0	0	1	0	0	0	146	1174	41	5	1639	5	ACO1	9	32430435	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		32430435	108782996	42	17498											
DAPK1	1612	broad.mit.edu	37	9	90220082	90220082	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:90220082C>T	uc004apc.3	+	2	414	c.276C>T	c.(274-276)atC>atT	p.I92I	DAPK1_uc004ape.3_Silent_p.I92I|DAPK1_uc004apd.3_Silent_p.I92I|DAPK1_uc011ltg.2_Silent_p.I92I|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	92	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCATCCTGATCTTGGAACTGT	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of				T	90220082	C	T	90220082	2	4	250	1	0	0	0	0	0	0	0	1	4235	903	32	3		3	DAPK1	9	90220082	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	57789647	90220082	50993349	43	17499											
SNX30	401548	broad.mit.edu	37	9	115580093	115580093	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:115580093C>G	uc004bgj.4	+	2	605	c.457C>G	c.(457-459)Ccc>Gcc	p.P153A		NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	153	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCATCTCATTCCCGTAGGTAG	0.458													G	115580093	C	G	115580093	3	3	250	1	0	0	0	0	1	0	0	0	14900	855	30	5	467	5	SNX30	9	115580093	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	25360011	115580093	25633338	44	17500											
OR1J1	347168	broad.mit.edu	37	9	125239495	125239495	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:125239495G>A	uc011lyu.2	-	0	711	c.711C>T	c.(709-711)gcC>gcT	p.A237A	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGTGGACAAGGCTTTGCATA	0.468													A	125239495	G	A	125239495	2	1	250	1	0	0	0	0	0	0	0	1	10959	987	35	3		3	OR1J1	9	125239495	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	9659402	125239495	15973936	45	17501											
SDCCAG3	10807	broad.mit.edu	37	9	139299619	139299619	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:139299619A>G	uc004chi.3	-	6	1134	c.929T>C	c.(928-930)aTg>aCg	p.M310T	SDCCAG3_uc004chj.3_Missense_Mutation_p.M287T|SDCCAG3_uc004chk.3_Missense_Mutation_p.M237T	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	310						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CTCCTTGATCATTTTTGCTTC	0.463													G	139299619	A	G	139299619	3	3	250	1	0	0	0	0	1	0	0	0	13958	217	8	4	394	4	SDCCAG3	9	139299619	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	14060124	139299619	1913812	46	17502											
ARMC3	219681	broad.mit.edu	37	10	23321938	23321938	+	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr10:23321938G>T	uc001irm.4	+	17	2478	c.2395G>T	c.(2395-2397)Gct>Tct	p.A799S	ARMC3_uc010qcv.2_Missense_Mutation_p.A792S|ARMC3_uc010qcw.2_Missense_Mutation_p.A536S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	799							binding	p.R798*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTACCATCGAGCTTTGCTTTT	0.353													T	23321938	G	T	23321938	3	4	250	1	0	0	0	0	1	0	0	0	952	971	34	5	2461	5	ARMC3	10	23321938	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		23321938	112212809	47	17503											
CHRNA10	57053	broad.mit.edu	37	11	3690464	3690464	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:3690464G>A	uc001lyf.3	-	2	396	c.324C>T	c.(322-324)agC>agT	p.S108S	CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	108					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	ACACAAGACTGCTGGGGATGC	0.567													A	3690464	G	A	3690464	2	1	250	1	0	0	0	0	0	0	0	1	3382	1310	46	3		3	CHRNA10	11	3690464	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		3690464	131316052	48	17504											
MICAL2	9645	broad.mit.edu	37	11	12241780	12241780	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:12241780G>A	uc001mjz.3	+	8	1269	c.981G>A	c.(979-981)gcG>gcA	p.A327A	MICAL2_uc010rch.1_Silent_p.A327A|MICAL2_uc001mka.3_Silent_p.A327A|MICAL2_uc010rci.2_Silent_p.A327A|MICAL2_uc001mkb.3_Silent_p.A327A|MICAL2_uc001mkc.3_Silent_p.A327A|MICAL2_uc001mkd.3_Silent_p.A156A|MICAL2_uc010rcj.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	327						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGCTGTGTGCGGAGAACGTGA	0.527													A	12241780	G	A	12241780	2	1	250	1	0	0	0	0	0	0	0	1	9570	1103	39	2		2	MICAL2	11	12241780	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	8551316	12241780	122764736	49	17505											
PYGM	5837	broad.mit.edu	37	11	64514249	64514249	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:64514249C>T	uc001oax.4	-	19	3228	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	RASGRP2_uc009ypu.3_5'Flank|RASGRP2_uc009ypv.3_5'Flank|RASGRP2_uc009ypw.3_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.4_Missense_Mutation_p.R716Q	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	804					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGCTATGTTCCGGATCACCAT	0.607													T	64514249	C	T	64514249	3	4	250	1	0	0	0	0	1	0	0	0	12862	652	23	2	121	2	PYGM	11	64514249	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	52272469	64514249	70492267	50	17506											
PDGFD	80310	broad.mit.edu	37	11	103780460	103780460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:103780460G>A	uc001phq.3	-	6	1447	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PDGFD_uc001php.3_Nonsense_Mutation_p.R353*	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	359					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAATCACATCGTTCATGGTGA	0.448													A	103780460	G	A	103780460	4	1	250	1	0	0	0	0	0	1	0	0	11660	1153	40	1	41	1	PDGFD	11	103780460	Nonsense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	39266211	103780460	31226056	51	17507											
NLRX1	79671	broad.mit.edu	37	11	119054075	119054075	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:119054075G>A	uc001pvu.3	+	9	3070	c.2855G>A	c.(2854-2856)cGc>cAc	p.R952H	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Missense_Mutation_p.R952H|NLRX1_uc001pvx.3_Missense_Mutation_p.R952H|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	952	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.R952H(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AATCCTTGGCGCAAGGCCCAG	0.637													A	119054075	G	A	119054075	3	1	250	1	0	0	0	0	1	0	0	0	10485	1087	38	1	2889	1	NLRX1	11	119054075	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	15273615	119054075	15952441	52	17508											
ARHGAP32	9743	broad.mit.edu	37	11	128910863	128910863	+	Missense_Mutation	SNP	T	T	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:128910863T>A	uc009zcp.3	-	9	963	c.963A>T	c.(961-963)caA>caT	p.Q321H	ARHGAP32_uc009zcq.2_Missense_Mutation_p.Q281H|ARHGAP32_uc001qfb.3_Missense_Mutation_p.Q106H	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	321	SH3.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGGAACTTTTTGGTTAATTA	0.393													A	128910863	T	A	128910863	3	1	250	1	0	0	0	0	1	0	0	0	881	1838	64	5	5352	5	ARHGAP32	11	128910863	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08	9856788	128910863	6095653	53	17509											
KLRG1	10219	broad.mit.edu	37	12	9142272	9142272	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:9142272C>T	uc001qvh.3	+	0	52	c.41C>T	c.(40-42)aCg>aTg	p.T14M	KLRG1_uc001qvg.3_Missense_Mutation_p.T14M	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	14					cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GAGTTGCCTACGGCAACCCAA	0.413													T	9142272	C	T	9142272	3	4	250	1	0	0	0	0	1	0	0	0	8421	536	19	1	43	1	KLRG1	12	9142272	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		9142272	124709623	54	17510											
KIF5A	3798	broad.mit.edu	37	12	57963411	57963411	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:57963411G>A	uc001sor.1	+	10	1270	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	KIF5A_uc010srr.1_Silent_p.K265K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	354					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			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						agaagacaaaggcccagaagg	0.532													A	57963411	G	A	57963411	2	1	250	1	0	0	0	0	0	0	0	1	8305	991	35	3		3	KIF5A	12	57963411	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	48821139	57963411	75888484	55	17511											
OS9	10956	broad.mit.edu	37	12	58109576	58109576	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:58109576G>A	uc001spj.3	+	5	820	c.613G>A	c.(613-615)Gac>Aac	p.D205N	OS9_uc010srx.2_Intron|OS9_uc001spk.3_Missense_Mutation_p.D205N|OS9_uc001spl.3_Missense_Mutation_p.D205N|OS9_uc001spm.3_Missense_Mutation_p.D205N|OS9_uc001spn.3_Missense_Mutation_p.D205N|OS9_uc010sry.2_Missense_Mutation_p.D172N|OS9_uc010srz.2_Missense_Mutation_p.D146N	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	205					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TATCTCTGGGGACTACATCGA	0.542													A	58109576	G	A	58109576	3	1	250	1	0	0	0	0	1	0	0	0	11272	1174	41	3	635	3	OS9	12	58109576	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	146165	58109576	75742319	56	17512											
AVIL	10677	broad.mit.edu	37	12	58204641	58204641	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:58204641G>A	uc001sqj.2	-	4	545	c.516C>T	c.(514-516)atC>atT	p.I172I	AVIL_uc009zqe.2_Silent_p.I165I|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Silent_p.I149I|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	172	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CATTCCATTGGATGATGACTT	0.502													A	58204641	G	A	58204641	2	1	250	1	0	0	0	0	0	0	0	1	1227	1164	41	3		3	AVIL	12	58204641	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	95065	58204641	75647254	57	17513											
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:59268350_59268351insG	uc001sqr.3	-	16	2946_2947	c.2700_2701insC	c.(2698-2703)acctgcfs	p.T900fs	LRIG3_uc009zqh.3_Frame_Shift_Ins_p.T840fs|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	900						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC								G	59268351	-	G	59268350	7	5	250	1	0	1	1	0	0	0	0	0	8946	188	7	0	670	0	LRIG3	12	59268350	Frame_Shift_Ins	INS	-	TCGA-41-5651-01A-01D-1696-08	1063709	59268350	74583545	58	17514											
ACIN1	22985	broad.mit.edu	37	14	23564497	23564497	+	Translation_Start_Site	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:23564497G>A	uc001wit.4	-	0					ACIN1_uc010akg.3_5'UTR|ACIN1_uc010tnj.2_5'UTR|C14orf119_uc001wiu.3_5'Flank|C14orf119_uc021rqv.1_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.						apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCTCCACATCGTTACCAATCA	0.542													A	23564497	G	A	23564497	1	1	250	1	0	0	0	0	0	0	0	0	142	1160	40	1		1	ACIN1	14	23564497	Translation_Start_Site	SNP	G	TCGA-41-5651-01A-01D-1696-08		23564497	83785043	59	17515											
MYH6	4624	broad.mit.edu	37	14	23857466	23857466	+	Silent	SNP	G	G	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:23857466G>C	uc001wjv.3	-	29	4328	c.4257C>G	c.(4255-4257)acC>acG	p.T1419T		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1419					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCGGTGCTTGGTCTTCTCCA	0.572													C	23857466	G	C	23857466	2	2	250	1	0	0	0	0	0	0	0	1	10038	1335	47	5		5	MYH6	14	23857466	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	292969	23857466	83492074	60	17516											
KCNH5	27133	broad.mit.edu	37	14	63468087	63468087	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:63468087G>A	uc001xfx.3	-	3	446	c.395C>T	c.(394-396)aCg>aTg	p.T132M	KCNH5_uc001xfy.3_Missense_Mutation_p.T132M|KCNH5_uc001xfz.1_Missense_Mutation_p.T74M|KCNH5_uc001xga.3_Missense_Mutation_p.T74M	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	132	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTGAACAACGTAATATCCTT	0.343													A	63468087	G	A	63468087	3	1	250	1	0	0	0	0	1	0	0	0	8035	1145	40	1	2637	1	KCNH5	14	63468087	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	39610621	63468087	43881453	61	17517											
LTBP2	4053	broad.mit.edu	37	14	74971518	74971518	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:74971518C>T	uc001xqa.3	-	29	4803	c.4416G>A	c.(4414-4416)gtG>gtA	p.V1472V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1472					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCTCCTTCCACAGGAATGT	0.562													T	74971518	C	T	74971518	2	4	250	1	0	0	0	0	0	0	0	1	9074	581	21	3		3	LTBP2	14	74971518	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	11503431	74971518	32378022	62	17518											
STON2	85439	broad.mit.edu	37	14	81744722	81744722	+	Silent	SNP	T	T	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:81744722T>G	uc010tvu.2	-	3	1131	c.933A>C	c.(931-933)gcA>gcC	p.A311A	STON2_uc001xvk.1_Silent_p.A311A|STON2_uc010tvt.2_Silent_p.A108A	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	311					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			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)		AAGGGTTGGTTGCCCTCCAAG	0.498													G	81744722	T	G	81744722	2	3	250	1	0	0	0	0	0	0	0	1	15317	1799	63	5		5	STON2	14	81744722	Silent	SNP	T	TCGA-41-5651-01A-01D-1696-08	6773204	81744722	25604818	63	17519											
SERPINA12	145264	broad.mit.edu	37	14	94953697	94953697	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:94953697G>A	uc001ydj.3	-	5	1984	c.1188C>T	c.(1186-1188)agC>agT	p.S396S		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	396					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			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)		GTATTTTCTCGCTGTAAATCA	0.527													A	94953697	G	A	94953697	2	1	250	1	0	0	0	0	0	0	0	1	14089	1078	38	1		1	SERPINA12	14	94953697	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	13208975	94953697	12395843	64	17520											
AHNAK2	113146	broad.mit.edu	37	14	105411658	105411658	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:105411658G>A	uc010axc.1	-	6	10250	c.10130C>T	c.(10129-10131)cCg>cTg	p.P3377L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3277L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3377						nucleus				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)			GTGGCCCTCCGGGAGCTTCAC	0.637													A	105411658	G	A	105411658	3	1	250	1	0	0	0	0	1	0	0	0	415	1116	39	2	7261	2	AHNAK2	14	105411658	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	10457961	105411658	1937882	65	17521											
SHC4	399694	broad.mit.edu	37	15	49217141	49217141	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:49217141C>A	uc001zxb.1	-	1	1020	c.591G>T	c.(589-591)atG>atT	p.M197I		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	197	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAACACAGCCCATGTACTACA	0.413													A	49217141	C	A	49217141	3	1	250	1	0	0	0	0	1	0	0	0	14273	594	21	5	1345	5	SHC4	15	49217141	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		49217141	53314251	66	17522											
MYO5C	55930	broad.mit.edu	37	15	52537563	52537563	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:52537563G>A	uc010bff.3	-	17	2328	c.2166C>T	c.(2164-2166)caC>caT	p.H722H	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	722	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGATGAGTCTGTGTAAAACCA	0.483													A	52537563	G	A	52537563	2	1	250	1	0	0	0	0	0	0	0	1	10080	1368	48	3		3	MYO5C	15	52537563	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	3320422	52537563	49993829	67	17523											
CD276	80381	broad.mit.edu	37	15	73994767	73994767	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:73994767A>G	uc002avv.1	+	2	485	c.251A>G	c.(250-252)gAc>gGc	p.D84G	CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.D84G|CD276_uc002avw.1_Missense_Mutation_p.D84G|CD276_uc010ulb.1_Missense_Mutation_p.D30G	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	84	Ig-like V-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GAGGGCCAGGACCAGGGCAGC	0.647													G	73994767	A	G	73994767	3	3	250	1	0	0	0	0	1	0	0	0	2992	275	10	4	257	4	CD276	15	73994767	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	21457204	73994767	28536625	68	17524											
CIITA	4261	broad.mit.edu	37	16	11004047	11004047	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:11004047C>T	uc002daj.4	+	12	2955	c.2822C>T	c.(2821-2823)aCg>aTg	p.T941M	CIITA_uc002dai.4_Missense_Mutation_p.T940M|CIITA_uc002dak.4_Missense_Mutation_p.T356M|CIITA_uc010bup.1_Nonsense_Mutation_p.R337*	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	940			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTCTCCAGGACGAGAAGTTCC	0.572			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								T	11004047	C	T	11004047	3	4	250	1	0	0	0	0	1	0	0	0	3428	536	19	1	2869	1	CIITA	16	11004047	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		11004047	79350706	69	17525											
IL4R	3566	broad.mit.edu	37	16	27373866	27373866	+	Missense_Mutation	SNP	G	G	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:27373866G>C	uc002don.3	+	10	1435	c.1193G>C	c.(1192-1194)gGa>gCa	p.G398A	IL4R_uc002dop.4_Missense_Mutation_p.G383A|IL4R_uc010bxy.3_Missense_Mutation_p.G398A|IL4R_uc002doo.3_Missense_Mutation_p.G238A	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	398					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCCAGGAGGGAAGGGAGGGC	0.597													C	27373866	G	C	27373866	3	2	250	1	0	0	0	0	1	0	0	0	7698	1174	41	5	1245	5	IL4R	16	27373866	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	16369819	27373866	62980887	70	17526											
ELMO3	79767	broad.mit.edu	37	16	67235531	67235531	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:67235531G>A	uc002esa.3	+	9	1106	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	ELMO3_uc002esb.3_Missense_Mutation_p.D338N|ELMO3_uc002esc.3_Missense_Mutation_p.D189N	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	302	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GACGCCCCTGGACCCCTACAG	0.612													A	67235531	G	A	67235531	3	1	250	1	0	0	0	0	1	0	0	0	5067	1174	41	3	1101	3	ELMO3	16	67235531	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	39861665	67235531	23119222	71	17527											
RLTPR	146206	broad.mit.edu	37	16	67681849	67681849	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:67681849C>T	uc002etn.3	+	12	1179	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RLTPR_uc010cel.1_Silent_p.S353S|RLTPR_uc010vjr.2_Silent_p.S353S	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	353										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGGGGCCTCCGAGGACAGTG	0.662													T	67681849	C	T	67681849	2	4	250	1	0	0	0	0	0	0	0	1	13394	639	23	2		2	RLTPR	16	67681849	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	446318	67681849	22672904	72	17528											
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:7578555C>T	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		CAGGGGAGTACTGTAGGAAGA	0.552		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)			T	7578555	C	T	7578555	5	4	250	1	0	0	0	0	0	0	1	0	16378	579	20	3	923	3	TP53	17	7578555	Splice_Site	SNP	C	TCGA-41-5651-01A-01D-1696-08		7578555	73616655	73	17529											
SCN4A	6329	broad.mit.edu	37	17	62034852	62034852	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:62034852C>T	uc002jds.1	-	12	2123	c.2046G>A	c.(2044-2046)tcG>tcA	p.S682S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	682					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S682L(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)	GCGTTGGCCACGACTTGGCCA	0.592													T	62034852	C	T	62034852	2	4	250	1	0	0	0	0	0	0	0	1	13920	523	19	1		1	SCN4A	17	62034852	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	54456297	62034852	19160358	74	17530											
EVPL	2125	broad.mit.edu	37	17	74011625	74011625	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:74011625C>T	uc010wss.1	-	14	2089	c.1861G>A	c.(1861-1863)Gtg>Atg	p.V621M	EVPL_uc002jqi.2_Missense_Mutation_p.V599M|EVPL_uc010wst.1_Missense_Mutation_p.V69M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	599	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGGGGCCCACGGGCCGCGTG	0.647													T	74011625	C	T	74011625	3	4	250	1	0	0	0	0	1	0	0	0	5292	536	19	1	4338	1	EVPL	17	74011625	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	11976773	74011625	7183585	75	17531											
SLC14A2	8170	broad.mit.edu	37	18	43262345	43262345	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr18:43262345C>T	uc002lbe.3	+	19	3440	c.2624C>T	c.(2623-2625)aCg>aTg	p.T875M	SLC14A2_uc010dnj.3_Missense_Mutation_p.T875M	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	875						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCTCCTGACGACCAATAAC	0.547													T	43262345	C	T	43262345	3	4	250	1	0	0	0	0	1	0	0	0	14397	536	19	1	2698	1	SLC14A2	18	43262345	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		43262345	34814903	76	17532											
MUC16	94025	broad.mit.edu	37	19	9033637	9033637	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:9033637G>A	uc002mkp.3	-	8	36504	c.36300C>T	c.(36298-36300)aaC>aaT	p.N12100N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12102	SEA 1.				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						TCTCTGTGGCGTTGAACTTCC	0.597													A	9033637	G	A	9033637	2	1	250	1	0	0	0	0	0	0	0	1	9973	1136	40	1		1	MUC16	19	9033637	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		9033637	50095346	77	17533											
ZNF439	90594	broad.mit.edu	37	19	11978931	11978931	+	Silent	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:11978931T>C	uc002mss.3	+	2	1175	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S	ZNF439_uc002msr.3_Silent_p.S213S	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAATGCACTCTGGAGAAAGAC	0.373													C	11978931	T	C	11978931	2	2	250	1	0	0	0	0	0	0	0	1	17908	1567	55	4		4	ZNF439	19	11978931	Silent	SNP	T	TCGA-41-5651-01A-01D-1696-08	2945294	11978931	47150052	78	17534											
SLC1A6	6511	broad.mit.edu	37	19	15083572	15083572	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:15083572G>A	uc002naa.1	-	0	158	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	SLC1A6_uc010dzu.1_Missense_Mutation_p.R51C|SLC1A6_uc010xod.1_Missense_Mutation_p.A55V|SLC1A6_uc002nab.3_Missense_Mutation_p.R51C|SLC1A6_uc002nac.3_Missense_Mutation_p.R51C|SLC1A6_uc002nad.1_Missense_Mutation_p.R51C	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	51					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CGCAGGAAGCGCAGCACGTGC	0.677													A	15083572	G	A	15083572	3	1	250	1	0	0	0	0	1	0	0	0	14436	1087	38	1	1579	1	SLC1A6	19	15083572	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	3104641	15083572	44045411	79	17535											
CYP2A13	1553	broad.mit.edu	37	19	41597756	41597756	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:41597756G>A	uc002opt.3	+	4	783	c.774G>A	c.(772-774)acG>acA	p.T258T		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	258					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.T258T(2)|p.R257C(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ACCAGCGCACGCTGGATCCCA	0.587													A	41597756	G	A	41597756	2	1	250	1	0	0	0	0	0	0	0	1	4161	1074	38	1		1	CYP2A13	19	41597756	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	26514184	41597756	17531227	80	17536											
ATP1A3	478	broad.mit.edu	37	19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:42489240C>T	uc002osh.3	-	7	977	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	ATP1A3_uc010xwf.2_Missense_Mutation_p.A286T|ATP1A3_uc010xwg.2_Missense_Mutation_p.A245T|ATP1A3_uc002osg.3_Missense_Mutation_p.A275T|ATP1A3_uc010xwh.2_Missense_Mutation_p.A288T			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	275					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTCGATGGCGATGGGCGTC	0.632													T	42489240	C	T	42489240	3	4	250	1	0	0	0	0	1	0	0	0	1130	768	27	1	2282	1	ATP1A3	19	42489240	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	891484	42489240	16639743	81	17537											
ZNF324	25799	broad.mit.edu	37	19	58982200	58982200	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:58982200G>A	uc002qsw.2	+	3	486	c.341G>A	c.(340-342)gGt>gAt	p.G114D		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G114D(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGTTGCCGGTGCCTGCCAC	0.567													A	58982200	G	A	58982200	3	1	250	1	0	0	0	0	1	0	0	0	17841	1261	44	3	351	3	ZNF324	19	58982200	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	16492960	58982200	146783	82	17538											
KIF16B	55614	broad.mit.edu	37	20	16254013	16254013	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:16254013G>A	uc002wpg.2	-	25	3998	c.3839C>T	c.(3838-3840)aCa>aTa	p.T1280I	KIF16B_uc002wpe.1_Missense_Mutation_p.T632I|KIF16B_uc002wpf.1_Missense_Mutation_p.T621I|KIF16B_uc010gch.2_Missense_Mutation_p.T1229I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1280	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.A1279P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAGGGGAGATGTTGCGGACTG	0.473													A	16254013	G	A	16254013	3	1	250	1	0	0	0	0	1	0	0	0	8278	1377	48	3	118	3	KIF16B	20	16254013	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		16254013	46771507	83	17539											
SEC23B	10483	broad.mit.edu	37	20	18507120	18507120	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:18507120G>A	uc002wra.2	+	7	1399	c.938G>A	c.(937-939)cGt>cAt	p.R313H	SEC23B_uc010zsb.2_Missense_Mutation_p.R295H|SEC23B_uc002wrb.2_Missense_Mutation_p.R313H|SEC23B_uc002wqz.2_Missense_Mutation_p.R313H|SEC23B_uc002wrc.2_Missense_Mutation_p.R313H	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	313			R -> H.		ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATTCCTATTCGTTCTTGGCAT	0.458													A	18507120	G	A	18507120	3	1	250	1	0	0	0	0	1	0	0	0	13992	1145	40	1	964	1	SEC23B	20	18507120	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	2253107	18507120	44518400	84	17540											
FAM83D	81610	broad.mit.edu	37	20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:37555323_37555325delGCG	uc002xjg.3	+	0	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del	FAM83D_uc002xjf.3_In_Frame_Del_p.A116del	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	86					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719													-	37555325	GCG	-	37555323	7	5	250	1	0	1	0	1	0	0	0	0	5636	1087	38	0	330	0	FAM83D	20	37555323	In_Frame_Del	DEL	GCG	TCGA-41-5651-01A-01D-1696-08	19048203	37555323	25470197	85	17541											
SLC12A5	57468	broad.mit.edu	37	20	44674611	44674611	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:44674611A>G	uc010zxl.1	+	12	1809	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.D555G	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	578					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.V578L(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)	GCATCCCTCGACGAGGTGGCC	0.597													G	44674611	A	G	44674611	3	3	250	1	0	0	0	0	1	0	0	0	14386	275	10	4	1839	4	SLC12A5	20	44674611	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	7119288	44674611	18350909	86	17542											
NFATC2	4773	broad.mit.edu	37	20	50159018	50159018	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:50159018C>T	uc002xwd.3	-	0	241	c.21G>A	c.(19-21)caG>caA	p.Q7Q	NFATC2_uc002xwc.3_Silent_p.Q7Q|NFATC2_uc010zyv.2_5'UTR|NFATC2_uc010zyw.2_5'UTR|NFATC2_uc002xwe.3_Intron|NFATC2_uc010zyx.2_Intron|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	7					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGGTTGGGGCTGCCGCTCGG	0.721													T	50159018	C	T	50159018	2	4	250	1	0	0	0	0	0	0	0	1	10362	796	28	3		3	NFATC2	20	50159018	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	5484407	50159018	12866502	87	17543											
OPRL1	4987	broad.mit.edu	37	20	62729401	62729401	+	Silent	SNP	C	C	T	rs143380233		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:62729401C>T	uc002yic.3	+	3	899	c.480C>T	c.(478-480)gaC>gaT	p.D160D	OPRL1_uc002yid.3_Silent_p.D160D|OPRL1_uc021wgs.1_Silent_p.D160D|OPRL1_uc002yif.4_Silent_p.D155D	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	160					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)					GTGCCCTCGACGTCCGCACGT	0.587													T	62729401	C	T	62729401	2	4	250	1	0	0	0	0	0	0	0	1	10886	535	19	1		1	OPRL1	20	62729401	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	12570383	62729401	296119	88	17544											
ITSN1	6453	broad.mit.edu	37	21	35231057	35231057	+	Missense_Mutation	SNP	A	A	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:35231057A>C	uc002yta.1	+	30	4119	c.3851A>C	c.(3850-3852)aAc>aCc	p.N1284T	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.N1279T|ITSN1_uc002ytj.2_Missense_Mutation_p.N1279T|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1284	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATTTTTGTGAACTGGAAGGAG	0.453													C	35231057	A	C	35231057	3	2	250	1	0	0	0	0	1	0	0	0	7926	43	2	5	3975	5	ITSN1	21	35231057	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08		35231057	12898838	89	17545											
IGSF5	150084	broad.mit.edu	37	21	41137664	41137664	+	Silent	SNP	C	C	T	rs145170006		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:41137664C>T	uc002yyo.3	+	2	406	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	101	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ACGACCAGGGCGGGAACTTCA	0.557													T	41137664	C	T	41137664	2	4	250	1	0	0	0	0	0	0	0	1	7602	755	27	1		1	IGSF5	21	41137664	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	5906607	41137664	6992231	90	17546											
ITGB2	3689	broad.mit.edu	37	21	46320382	46320382	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:46320382G>A	uc002zgd.2	-	5	794	c.750C>T	c.(748-750)atC>atT	p.I250I	ITGB2_uc002zgf.3_Silent_p.I250I|ITGB2_uc011afl.1_Silent_p.I172I|ITGB2_uc010gpw.2_Silent_p.I193I|ITGB2_uc002zgg.2_Silent_p.I250I	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	250	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCGCCAGCCGATTTCCTCCT	0.647													A	46320382	G	A	46320382	2	1	250	1	0	0	0	0	0	0	0	1	7894	1048	37	2		2	ITGB2	21	46320382	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	5182718	46320382	1809513	91	17547											
SEC14L3	266629	broad.mit.edu	37	22	30856050	30856050	+	Silent	SNP	G	G	A	rs116181219	by1000genomes	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr22:30856050G>A	uc003ahy.3	-	11	1250	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	SEC14L3_uc003ahz.3_Silent_p.D310D|SEC14L3_uc003aia.3_Silent_p.D328D|SEC14L3_uc003aib.3_Silent_p.D328D	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	387						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GCATGCCCTCGTCAGGGAGCA	0.502													A	30856050	G	A	30856050	2	1	250	1	0	0	0	0	0	0	0	1	13983	1136	40	1		1	SEC14L3	22	30856050	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		30856050	20448516	92	17548											
PES1	23481	broad.mit.edu	37	22	30980618	30980618	+	Missense_Mutation	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr22:30980618T>C	uc003aij.2	-	4	562	c.455A>G	c.(454-456)aAg>aGg	p.K152R	PES1_uc003aik.2_Missense_Mutation_p.K152R|PES1_uc003aio.1_Missense_Mutation_p.K13R|PES1_uc003ain.1_Missense_Mutation_p.K13R	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	152	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CACGTGGCACTTGCCAGTCCG	0.612													C	30980618	T	C	30980618	3	2	250	1	0	0	0	0	1	0	0	0	11733	1609	56	4	1355	4	PES1	22	30980618	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08	124568	30980618	20323948	93	17549											
MXRA5	25878	broad.mit.edu	37	X	3235173	3235173	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:3235173C>T	uc004crg.4	-	5	6706	c.6549G>A	c.(6547-6549)ccG>ccA	p.P2183P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2183	Ig-like C2-type 6.					extracellular region				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)				TCCTCTTGGACGGCAGCCTCC	0.637													T	3235173	C	T	3235173	2	4	250	1	0	0	0	0	0	0	0	1	10003	523	19	1		1	MXRA5	23	3235173	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08		3235173	152035387	94	17550											
TLR7	51284	broad.mit.edu	37	X	12905182	12905182	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:12905182C>A	uc004cvc.3	+	2	1694	c.1555C>A	c.(1555-1557)Ctc>Atc	p.L519I		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	519					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			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)	TCTTTCTTTCCTCAAATGCCT	0.378													A	12905182	C	A	12905182	3	1	250	1	0	0	0	0	1	0	0	0	15953	681	24	5	1561	5	TLR7	23	12905182	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	9670009	12905182	142365378	95	17551											
DDX53	168400	broad.mit.edu	37	X	23019720	23019720	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:23019720G>A	uc004daj.3	+	0	1643	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	516	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CTTTAAAAGCGGAAACATAAA	0.373													A	23019720	G	A	23019720	3	1	250	1	0	0	0	0	1	0	0	0	4371	1117	39	2	1548	2	DDX53	23	23019720	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	10114538	23019720	132250840	96	17552											
CXorf21	80231	broad.mit.edu	37	X	30577750	30577750	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:30577750C>T	uc022bui.1	-	0	723	c.723G>A	c.(721-723)gcG>gcA	p.A241A	CXorf21_uc004dcg.2_Silent_p.A241A	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	241								p.A241E(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TGAGTTCAGACGCCAGAATCT	0.438													T	30577750	C	T	30577750	2	4	250	1	0	0	0	0	0	0	0	1	4101	523	19	1		1	CXorf21	23	30577750	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	7558030	30577750	124692810	97	17553											
GRIPAP1	56850	broad.mit.edu	37	X	48839756	48839756	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:48839756G>A	uc004dly.1	-	15	1404	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	GRIPAP1_uc004dlz.3_Missense_Mutation_p.R347W|GRIPAP1_uc004dma.3_Missense_Mutation_p.R404W	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	457						early endosome		p.M456V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTCTCATGCCGTAGACGAACT	0.597													A	48839756	G	A	48839756	3	1	250	1	0	0	0	0	1	0	0	0	6789	1144	40	1	1254	1	GRIPAP1	23	48839756	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	18262006	48839756	106430804	98	17554											
ZXDA	7789	broad.mit.edu	37	X	57936065	57936065	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:57936065C>T	uc004dve.3	-	0	1003	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	264					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TACAGCACCACGCCTGGACCA	0.726													T	57936065	C	T	57936065	3	4	250	1	0	0	0	0	1	0	0	0	18247	536	19	1	1613	1	ZXDA	23	57936065	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	9096309	57936065	97334495	99	17555											
TAF1	6872	broad.mit.edu	37	X	70613222	70613222	+	Silent	SNP	A	A	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:70613222A>C	uc004dzu.4	+	20	3171	c.3120A>C	c.(3118-3120)ggA>ggC	p.G1040G	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.G1061G|TAF1_uc004dzv.4_Silent_p.G214G	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1040					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTCGTTCTGGAGAGGGGCCCA	0.468													C	70613222	A	C	70613222	2	2	250	1	0	0	0	0	0	0	0	1	15510	291	11	5		5	TAF1	23	70613222	Silent	SNP	A	TCGA-41-5651-01A-01D-1696-08	12677157	70613222	84657338	100	17556											
ABCB7	22	broad.mit.edu	37	X	74291376	74291376	+	Missense_Mutation	SNP	A	A	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:74291376A>T	uc004ebz.3	-	8	1203	c.1178T>A	c.(1177-1179)aTa>aAa	p.I393K	ABCB7_uc010nlt.3_Missense_Mutation_p.I352K|ABCB7_uc004eca.3_Missense_Mutation_p.I392K|ABCB7_uc011mqn.2_Missense_Mutation_p.I366K|ABCB7_uc010nls.3_Missense_Mutation_p.I353K	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	392	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAGCACCATTATAGCTGTTAA	0.388													T	74291376	A	T	74291376	3	4	250	1	0	0	0	0	1	0	0	0	46	449	16	5	1115	5	ABCB7	23	74291376	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	3678154	74291376	80979184	101	17557											
KIAA1210	57481	broad.mit.edu	37	X	118238988	118238988	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:118238988C>A	uc004era.4	-	6	1035	c.1035G>T	c.(1033-1035)aaG>aaT	p.K345N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	345										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTGGTAAAGCCTTCTTTTGTG	0.418													A	118238988	C	A	118238988	3	1	250	1	0	0	0	0	1	0	0	0	8214	680	24	5	4126	5	KIAA1210	23	118238988	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	43947612	118238988	37031572	102	17558											
FRMD7	90167	broad.mit.edu	37	X	131219611	131219611	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:131219611G>A	uc004ewn.3	-	6	821	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	FRMD7_uc022cdy.1_Missense_Mutation_p.R95W|FRMD7_uc011muy.2_Missense_Mutation_p.R200W	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	215	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GATTTTACCCGTAACACCAGT	0.512													A	131219611	G	A	131219611	3	1	250	1	0	0	0	0	1	0	0	0	6055	1144	40	1	1525	1	FRMD7	23	131219611	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	12980623	131219611	24050949	103	17559											
ATP2B3	492	broad.mit.edu	37	X	152818620	152818620	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:152818620C>T	uc004fht.1	+	10	2077	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	ATP2B3_uc004fhs.1_Missense_Mutation_p.R651W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	651					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCGCCTACCGGGACTTCTC	0.632													T	152818620	C	T	152818620	3	4	250	1	0	0	0	0	1	0	0	0	1141	643	23	2	1993	2	ATP2B3	23	152818620	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	21599009	152818620	2451940	104	17560											
CYP4X1	260293	broad.mit.edu	37	1	47498961	47498961	+	Missense_Mutation	SNP	G	G	A	rs116257861	by1000genomes	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:47498961G>A	uc001cqt.3	+	3	663	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CYP4X1_uc001cqr.3_Missense_Mutation_p.R137H|CYP4X1_uc001cqs.3_Missense_Mutation_p.R73H	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	138						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CAGCATCGTCGCCTACTAACT	0.428													A	47498961	G	A	47498961	3	1	251	1	0	0	0	0	1	0	0	0	4193	1087	38	1	427	1	CYP4X1	1	47498961	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		47498961	201751660	1	17561											
CREB3L4	148327	broad.mit.edu	37	1	153941905	153941905	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:153941905G>A	uc001fdm.1	+	3	785	c.517G>A	c.(517-519)Gta>Ata	p.V173I	SLC39A1_uc001fdl.3_5'Flank|CREB3L4_uc001fdn.3_Missense_Mutation_p.V173I|CREB3L4_uc010pef.1_Missense_Mutation_p.V26I|CREB3L4_uc001fdo.3_Missense_Mutation_p.V153I|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.V173I|CREB3L4_uc001fdq.2_Missense_Mutation_p.V153I	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	173					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	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)			AGCAGGCACCGTAGCCCCAGT	0.532													A	153941905	G	A	153941905	3	1	251	1	0	0	0	0	1	0	0	0	3859	1145	40	1	527	1	CREB3L4	1	153941905	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	106442944	153941905	95308716	2	17562											
TOR1AIP1	26092	broad.mit.edu	37	1	179886766	179886766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:179886766C>T	uc001gnq.3	+	9	1362	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	382						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GTACCAAGGTCAAGATGAGAA	0.443													T	179886766	C	T	179886766	4	4	251	1	0	0	0	0	0	1	0	0	16369	827	29	3	1182	3	TOR1AIP1	1	179886766	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	25944861	179886766	69363855	3	17563											
LAMC1	3915	broad.mit.edu	37	1	183087214	183087214	+	Silent	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:183087214T>C	uc001gpy.4	+	10	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	641	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P641P(2)|p.P641L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTTACCCCTTTTGAATTTC	0.418													C	183087214	T	C	183087214	2	2	251	1	0	0	0	0	0	0	0	1	8614	1596	56	4		4	LAMC1	1	183087214	Silent	SNP	T	TCGA-41-6646-01A-11D-1845-08	3200448	183087214	66163407	4	17564											
PPFIA4	8497	broad.mit.edu	37	1	203014509	203014509	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:203014509G>A	uc009xaj.3	+	10	1121	c.1121G>A	c.(1120-1122)cGg>cAg	p.R374Q	PPFIA4_uc010pqf.2_5'UTR			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	144	SAM 1.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GATACGGGCCGGGTAGAGGAG	0.602													A	203014509	G	A	203014509	3	1	251	1	0	0	0	0	1	0	0	0	12312	1131	39	2		2	PPFIA4	1	203014509	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	19927295	203014509	46236112	5	17565											
SLC45A3	2005	broad.mit.edu	37	1	205589407	205589407	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:205589407G>A	uc001hcy.2	-	2	2017	c.767C>T	c.(766-768)tCg>tTg	p.S256L	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.S256L	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGGTATGGACGAAATGGGTGG	0.522			T	"ETV1, ETV5, ELK4, ERG"	prostate								A	205589407	G	A	205589407	3	1	251	1	0	0	0	0	1	0	0	0	14642	1059	37	2		2	SLC45A3	1	205589407	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	2574898	205589407	43661214	6	17566											
MRPL55	128308	broad.mit.edu	37	1	228294495	228294495	+	Missense_Mutation	SNP	C	C	T	rs145809265		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:228294495C>T	uc001hrz.4	-	5	750	c.461G>A	c.(460-462)cGc>cAc	p.R154H	MRPL55_uc001hsg.4_Missense_Mutation_p.R118H|MRPL55_uc009xex.3_Missense_Mutation_p.R118H|MRPL55_uc001hsa.4_Missense_Mutation_p.R118H|MRPL55_uc001hsb.4_Missense_Mutation_p.R118H|MRPL55_uc001hsc.4_Missense_Mutation_p.R118H|MRPL55_uc001hsd.4_Missense_Mutation_p.R118H|MRPL55_uc001hse.4_Missense_Mutation_p.R118H|MRPL55_uc001hsf.4_Missense_Mutation_p.R118H	NM_181462	NP_852127	Q7Z7F7	RM55_HUMAN	Homo sapiens mitochondrial ribosomal protein L55 (MRPL55), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	118					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CTGTCGGTAGCGCTCCACATG	0.592													T	228294495	C	T	228294495	3	4	251	1	0	0	0	0	1	0	0	0	9819	768	27	1	37	1	MRPL55	1	228294495	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	22705088	228294495	20956126	7	17567											
RYR2	6262	broad.mit.edu	37	1	237632437	237632437	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:237632437G>A	uc001hyl.1	+	16	1778	c.1658G>A	c.(1657-1659)gGc>gAc	p.G553D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	553					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.G551V(1)|p.L553L(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)			CAATTTTCTGGCTCCCTCGAC	0.373													A	237632437	G	A	237632437	3	1	251	1	0	0	0	0	1	0	0	0	13769	1203	42	3	1724	3	RYR2	1	237632437	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	9337942	237632437	11618184	8	17568											
OR2T11	127077	broad.mit.edu	37	1	248789661	248789661	+	Missense_Mutation	SNP	C	C	T	rs139227153	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:248789661C>T	uc001ier.1	-	0	769	c.769G>A	c.(769-771)Gtg>Atg	p.V257M		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y256Y(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			TGGGGCAGCACGTATGTGTAG	0.532													T	248789661	C	T	248789661	3	4	251	1	0	0	0	0	1	0	0	0	11018	536	19	1	185	1	OR2T11	1	248789661	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	11157224	248789661	460960	9	17569											
NPHP1	4867	broad.mit.edu	37	2	110922207	110922207	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:110922207G>A	uc002tfn.4	-	7	923	c.829C>T	c.(829-831)Cga>Tga	p.R277*	NPHP1_uc002tfm.4_Intron|NPHP1_uc002tfl.4_Nonsense_Mutation_p.R277*|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Intron|NPHP1_uc010fjv.1_Intron	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	277					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			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ATCCTATTTCGCATCAGAACT	0.458													A	110922207	G	A	110922207	4	1	251	1	0	0	0	0	0	1	0	0	10579	1095	38	1	1424	1	NPHP1	2	110922207	Nonsense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		110922207	132277166	10	17570											
NCKAP5	344148	broad.mit.edu	37	2	133547632	133547632	+	Silent	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:133547632G>A	uc002ttp.3	-	12	1430	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	NCKAP5_uc002ttq.3_Silent_p.S352S	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	352	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCACGTGTAGGAGGAGCCAC	0.522													A	133547632	G	A	133547632	2	1	251	1	0	0	0	0	0	0	0	1	10223	987	35	3		3	NCKAP5	2	133547632	Silent	SNP	G	TCGA-41-6646-01A-11D-1845-08	22625425	133547632	109651741	11	17571											
ITGA6	3655	broad.mit.edu	37	2	173356005	173356005	+	Silent	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:173356005C>T	uc002uhp.1	+	21	3038	c.2835C>T	c.(2833-2835)gaC>gaT	p.D945D	ITGA6_uc010zdy.1_Silent_p.D826D|ITGA6_uc002uho.1_Silent_p.D945D|ITGA6_uc010fqm.1_Silent_p.D576D	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	984					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GGGGGCTGGACAGCAAGGCGT	0.473													T	173356005	C	T	173356005	2	4	251	1	0	0	0	0	0	0	0	1	7880	477	17	3		3	ITGA6	2	173356005	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08	39808373	173356005	69843368	12	17572											
PLCL1	5334	broad.mit.edu	37	2	198950624	198950624	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:198950624C>T	uc010fsp.3	+	1	2781	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C	PLCL1_uc002uuv.4_Missense_Mutation_p.R716C	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	795	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCCATGATCCGTTTTGTTGT	0.398													T	198950624	C	T	198950624	3	4	251	1	0	0	0	0	1	0	0	0	12039	652	23	2	2389	2	PLCL1	2	198950624	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	25594619	198950624	44248749	13	17573											
EPHA3	2042	broad.mit.edu	37	3	89478302	89478302	+	Silent	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr3:89478302G>A	uc003dqy.3	+	11	2346	c.2121G>A	c.(2119-2121)ttG>ttA	p.L707L	EPHA3_uc021xbf.1_Silent_p.L707L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	707	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGTTCCTTGGATAGTTTCC	0.323										TSP Lung(6;0.00050)			A	89478302	G	A	89478302	2	1	251	1	0	0	0	0	0	0	0	1	5168	1339	47	3		3	EPHA3	3	89478302	Silent	SNP	G	TCGA-41-6646-01A-11D-1845-08		89478302	108544128	14	17574											
PTTG2	10744	broad.mit.edu	37	4	37962337	37962337	+	Silent	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:37962337C>T	uc011bye.2	+	0	282	c.282C>T	c.(280-282)acC>acT	p.T94T	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	94					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						AAAAGATGACCGAGAAGACTG	0.403													T	37962337	C	T	37962337	2	4	251	1	0	0	0	0	0	0	0	1	12821	639	23	2		2	PTTG2	4	37962337	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08		37962337	153191939	15	17575											
SHROOM3	57619	broad.mit.edu	37	4	77661478	77661478	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:77661478C>T	uc011cbx.2	+	4	3105	c.2152C>T	c.(2152-2154)Cgg>Tgg	p.R718W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R542W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R593W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R496W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	718					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			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)			CCATCTGGACCGGCAGGTTTC	0.677													T	77661478	C	T	77661478	3	4	251	1	0	0	0	0	1	0	0	0	14295	643	23	2	2170	2	SHROOM3	4	77661478	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	39699141	77661478	113492798	16	17576											
HNRPDL	9987	broad.mit.edu	37	4	83348672	83348672	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:83348672T>C	uc003hmr.3	-	3	1355	c.820A>G	c.(820-822)Aga>Gga	p.R274G	HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.R274G	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	274	RRM 2.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				CAAAATCCTCTTCTTTCATTT	0.333													C	83348672	T	C	83348672	3	2	251	1	0	0	0	0	1	0	0	0	7276	1617	56	4	458	4	HNRPDL	4	83348672	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	5687194	83348672	107805604	17	17577											
CLGN	1047	broad.mit.edu	37	4	141313760	141313760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:141313760delA	uc011chi.2	-	12	1689	c.1471delT	c.(1471-1473)tgtfs	p.C491fs	CLGN_uc003iii.3_Frame_Shift_Del_p.C491fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	491					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTGGCCAACAAAATGAAGTA	0.348													-	141313760	A	-	141313760	7	5	251	1	0	1	0	1	0	0	0	0	3524	130	5	0	377	0	CLGN	4	141313760	Frame_Shift_Del	DEL	A	TCGA-41-6646-01A-11D-1845-08	57965088	141313760	49840516	18	17578											
FGG	2266	broad.mit.edu	37	4	155533209	155533209	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:155533209T>C	uc003ioj.3	-	2	409	c.268A>G	c.(268-270)Atc>Gtc	p.I90V	FGG_uc003iog.3_Missense_Mutation_p.I90V	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	90					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTGAGTTGGATTGCTTTTATC	0.313													C	155533209	T	C	155533209	3	2	251	1	0	0	0	0	1	0	0	0	5870	1493	52	4	1140	4	FGG	4	155533209	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	14219449	155533209	35621067	19	17579											
SPOCK3	50859	broad.mit.edu	37	4	168155201	168155201	+	Nonsense_Mutation	SNP	T	T	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:168155201T>A	uc011cjq.1	-	0	217	c.160A>T	c.(160-162)Aaa>Taa	p.K54*	SPOCK3_uc021xuf.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjs.1_5'UTR|SPOCK3_uc003irj.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Nonsense_Mutation_p.K42*|SPOCK3_uc011cju.1_Silent_p.I2I|SPOCK3_uc011cjv.1_Nonsense_Mutation_p.K42*|SPOCK3_uc003irk.4_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	42					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			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)		AGCCATTGTTTATCATCCAGA	0.597													A	168155201	T	A	168155201	4	1	251	1	0	0	0	0	0	1	0	0	15080	1763	61	5	1230	5	SPOCK3	4	168155201	Nonsense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	12621992	168155201	22999075	20	17580											
ATOX1	475	broad.mit.edu	37	5	151131276	151131276	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr5:151131276T>C	uc003luk.3	-	1	169	c.71A>G	c.(70-72)aAt>aGt	p.N24S		NM_004045	NP_004036	O00244	ATOX1_HUMAN	Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1), mRNA.	24	HMA.				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCCAAGCTTATTGAGGACCCG	0.527													C	151131276	T	C	151131276	3	2	251	1	0	0	0	0	1	0	0	0	1115	1493	52	4	143	4	ATOX1	5	151131276	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08		151131276	29783984	21	17581											
CSNK2B	1460	broad.mit.edu	37	6	31637272	31637272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:31637272C>T	uc003nvr.1	+	5	884	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.	182					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						ACCTGCCAACCAGTTTGTGCC	0.572													T	31637272	C	T	31637272	4	4	251	1	0	0	0	0	0	1	0	0	3959	595	21	3	562	3	CSNK2B	6	31637272	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		31637272	139477795	22	17582											
UNC5CL	222643	broad.mit.edu	37	6	40996200	40996200	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:40996200T>C	uc003opi.3	-	8	1568	c.1469A>G	c.(1468-1470)tAc>tGc	p.Y490C		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	490	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCACTCAGGTAGTTCTGGAT	0.667											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	40996200	T	C	40996200	3	2	251	1	0	0	0	0	1	0	0	0	16991	1638	57	4	91	4	UNC5CL	6	40996200	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	9358928	40996200	130118867	23	17583											
TRERF1	55809	broad.mit.edu	37	6	42231242	42231242	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:42231242G>A	uc003ose.2	-	7	2263	c.1700C>T	c.(1699-1701)cCg>cTg	p.P567L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.P567L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	567	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P567P(1)|p.P569_P570delPP(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			tggtggcggcggaggcggagg	0.642													A	42231242	G	A	42231242	3	1	251	1	0	0	0	0	1	0	0	0	16472	1116	39	2	1946	2	TRERF1	6	42231242	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	1235042	42231242	128883825	24	17584											
EIF3B	8662	broad.mit.edu	37	7	2412424	2412424	+	Missense_Mutation	SNP	C	C	G			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:2412424C>G	uc003slx.3	+	11	1887	c.1804C>G	c.(1804-1806)Ctc>Gtc	p.L602V	EIF3B_uc003sly.3_Missense_Mutation_p.L602V|EIF3B_uc003sma.3_Missense_Mutation_p.L330V	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	602					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GAAGATTGAACTCATCAGTAA	0.507													G	2412424	C	G	2412424	3	3	251	1	0	0	0	0	1	0	0	0	5013	565	20	5	1850	5	EIF3B	7	2412424	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		2412424	156726239	25	17585											
GAL3ST4	79690	broad.mit.edu	37	7	99764391	99764391	+	Missense_Mutation	SNP	A	A	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:99764391A>T	uc003utt.3	-	1	1180	c.163T>A	c.(163-165)Tcc>Acc	p.S55T	GAL3ST4_uc022aii.1_Intron|GAL3ST4_uc003utu.3_Missense_Mutation_p.S55T	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	55					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTCGTAGGGATGGGGCCGAG	0.622													T	99764391	A	T	99764391	3	4	251	1	0	0	0	0	1	0	0	0	6200	333	12	5	1305	5	GAL3ST4	7	99764391	Missense_Mutation	SNP	A	TCGA-41-6646-01A-11D-1845-08	97351967	99764391	59374272	26	17586											
DOCK4	9732	broad.mit.edu	37	7	111540437	111540437	+	Missense_Mutation	SNP	A	A	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:111540437A>C	uc003vfy.3	-	14	1742	c.1473T>G	c.(1471-1473)caT>caG	p.H491Q	DOCK4_uc003vfx.3_Missense_Mutation_p.H491Q|DOCK4_uc003vga.1_Missense_Mutation_p.H96Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	491	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACTGGAACAATGCCGAAACT	0.473													C	111540437	A	C	111540437	3	2	251	1	0	0	0	0	1	0	0	0	4689	98	4	5	4579	5	DOCK4	7	111540437	Missense_Mutation	SNP	A	TCGA-41-6646-01A-11D-1845-08	11776046	111540437	47598226	27	17587											
DLGAP2	9228	broad.mit.edu	37	8	1581155	1581155	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr8:1581155G>A	uc003wpl.3	+	4	1610	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	DLGAP2_uc003wpm.3_Missense_Mutation_p.E505K	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	584					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.E527K(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCAAGATGACGAATGTATTCC	0.547													A	1581155	G	A	1581155	3	1	251	1	0	0	0	0	1	0	0	0	4560	1059	37	2	1527	2	DLGAP2	8	1581155	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		1581155	144782867	28	17588											
NUDCD1	84955	broad.mit.edu	37	8	110308796	110308796	+	Missense_Mutation	SNP	G	G	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr8:110308796G>C	uc003ynb.4	-	2	387	c.276C>G	c.(274-276)gaC>gaG	p.D92E	NUDCD1_uc003yna.3_Missense_Mutation_p.D63E|NUDCD1_uc010mcl.3_Missense_Mutation_p.D5E|NUDCD1_uc010mcm.1_Missense_Mutation_p.D5E	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	92										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CTAAGGCAGTGTCCTAAAAAG	0.403													C	110308796	G	C	110308796	3	2	251	1	0	0	0	0	1	0	0	0	10722	1368	48	5	1507	5	NUDCD1	8	110308796	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	108727641	110308796	36055226	29	17589											
NEBL	10529	broad.mit.edu	37	10	21185902	21185902	+	Silent	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr10:21185902C>T	uc001iqi.3	-	1	535	c.138G>A	c.(136-138)acG>acA	p.T46T	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	46					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATGAGTTCCGTGCATTTTC	0.353													T	21185902	C	T	21185902	2	4	251	1	0	0	0	0	0	0	0	1	10303	639	23	2		2	NEBL	10	21185902	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08		21185902	114348845	30	17590											
OR52E2	119678	broad.mit.edu	37	11	5080175	5080175	+	Missense_Mutation	SNP	C	C	T	rs141087990		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:5080175C>T	uc010qyw.2	-	0	683	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTAGGAAGACGGAAAACAGC	0.398													T	5080175	C	T	5080175	3	4	251	1	0	0	0	0	1	0	0	0	11115	536	19	1	297	1	OR52E2	11	5080175	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		5080175	129926341	31	17591											
OR5W2	390148	broad.mit.edu	37	11	55681607	55681607	+	Missense_Mutation	SNP	A	A	G			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:55681607A>G	uc010rir.2	-	0	452	c.452T>C	c.(451-453)gTg>gCg	p.V151A		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCTATTCCCACCAGATAAAC	0.458													G	55681607	A	G	55681607	3	3	251	1	0	0	0	0	1	0	0	0	11185	159	6	4	482	4	OR5W2	11	55681607	Missense_Mutation	SNP	A	TCGA-41-6646-01A-11D-1845-08	50601432	55681607	79324909	32	17592											
GLYATL1	92292	broad.mit.edu	37	11	58722269	58722269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:58722269C>A	uc001nnh.2	+	4	356	c.306C>A	c.(304-306)taC>taA	p.Y102*	GLYATL1_uc001nnf.3_Nonsense_Mutation_p.Y71*|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Nonsense_Mutation_p.Y71*|GLYATL1_uc001nnj.2_Nonsense_Mutation_p.Y71*	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	71						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGGATTCATACACAAACGTAT	0.373													A	58722269	C	A	58722269	4	1	251	1	0	0	0	0	0	1	0	0	6480	489	17	5	324	5	GLYATL1	11	58722269	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	3040662	58722269	76284247	33	17593											
NPAS4	266743	broad.mit.edu	37	11	66192332	66192332	+	Silent	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:66192332C>T	uc001ohx.1	+	6	2147	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	NPAS4_uc010rpc.1_Silent_p.G447G	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	657					transcription, DNA-dependent		DNA binding|signal transducer activity	p.G657G(2)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGCACTGGCGGACTAGAGC	0.582													T	66192332	C	T	66192332	2	4	251	1	0	0	0	0	0	0	0	1	10565	755	27	1		1	NPAS4	11	66192332	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08	7470063	66192332	68814184	34	17594											
ARHGEF17	9828	broad.mit.edu	37	11	73020926	73020926	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:73020926G>A	uc001otu.3	+	0	1264	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	415					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			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGGCTGGGGCGTGTACCGCTC	0.657													A	73020926	G	A	73020926	3	1	251	1	0	0	0	0	1	0	0	0	900	1145	40	1	1245	1	ARHGEF17	11	73020926	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	6828594	73020926	61985590	35	17595											
RECQL	5965	broad.mit.edu	37	12	21643134	21643134	+	Silent	SNP	A	A	G			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr12:21643134A>G	uc001rex.3	-	5	742	c.394_splice	c.e5+1	p.G132_splice	RECQL_uc001rey.3_Splice_Site_p.G132_splice	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	132	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTACATACCATCTGAACATA	0.289								Other identified genes with known or suspected DNA repair function					G	21643134	A	G	21643134	2	3	251	1	0	0	0	0	0	0	0	1	13201	231	8	4		4	RECQL	12	21643134	Silent	SNP	A	TCGA-41-6646-01A-11D-1845-08		21643134	112208761	36	17596											
MPHOSPH9	10198	broad.mit.edu	37	12	123661241	123661241	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr12:123661241C>T	uc001uel.3	-	11	2102	c.1994G>A	c.(1993-1995)cGt>cAt	p.R665H	MPHOSPH9_uc010tal.2_Missense_Mutation_p.R119H|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.R119H	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	665					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTACTTGGCACGCGAGGGTCT	0.353													T	123661241	C	T	123661241	3	4	251	1	0	0	0	0	1	0	0	0	9728	536	19	1	1137	1	MPHOSPH9	12	123661241	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	102018107	123661241	10190654	37	17597											
UGGT2	55757	broad.mit.edu	37	13	96578002	96578002	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr13:96578002G>A	uc001vmt.3	-	19	2397	c.2227C>T	c.(2227-2229)Ctc>Ttc	p.L743F		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	743					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATAATCCAGAGAGTGACTGCA	0.308													A	96578002	G	A	96578002	3	1	251	1	0	0	0	0	1	0	0	0	16939	942	33	3	2403	3	UGGT2	13	96578002	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		96578002	18591876	38	17598											
SLC38A6	145389	broad.mit.edu	37	14	61518523	61518525	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr14:61518523_61518525delATG	uc001xfh.2	+	13	1233_1235	c.1069_1071delATG	c.(1069-1071)atgdel	p.M358del	SLC38A6_uc001xfg.2_In_Frame_Del_p.M358del|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_In_Frame_Del_p.M335del	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	358					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AGCTGTAACAATGATGTTTTTCT	0.34													-	61518525	ATG	-	61518523	7	5	251	1	0	1	0	1	0	0	0	0	14608	101	4	0	1123	0	SLC38A6	14	61518523	In_Frame_Del	DEL	ATG	TCGA-41-6646-01A-11D-1845-08		61518523	45831017	39	17599											
SERPINA11	256394	broad.mit.edu	37	14	94912695	94912695	+	Missense_Mutation	SNP	C	C	G	rs148183767		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr14:94912695C>G	uc001ydd.1	-	2	950	c.890G>C	c.(889-891)aGa>aCa	p.R297T		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	297					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.D296G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCCCCATTTTCTCAGGGTCTG	0.562													G	94912695	C	G	94912695	3	3	251	1	0	0	0	0	1	0	0	0	14088	913	32	5	390	5	SERPINA11	14	94912695	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	33394172	94912695	12436845	40	17600											
TRPM1	4308	broad.mit.edu	37	15	31360288	31360288	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr15:31360288C>T	uc021sia.1	-	3	652	c.338G>A	c.(337-339)cGt>cAt	p.R113H	TRPM1_uc010azy.3_5'UTR|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R96H|TRPM1_uc001zfm.3_Missense_Mutation_p.R74H|MIR211_uc010ubm.1_5'Flank|TRPM1_uc010ubn.1_5'Flank	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	74					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			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)		ATAGGATACACGGATATACTG	0.493													T	31360288	C	T	31360288	3	4	251	1	0	0	0	0	1	0	0	0	16582	536	19	1	4686	1	TRPM1	15	31360288	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		31360288	71171104	41	17601											
COX10	1352	broad.mit.edu	37	17	14110443	14110443	+	Missense_Mutation	SNP	C	C	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr17:14110443C>A	uc002gof.4	+	6	1449	c.1245C>A	c.(1243-1245)agC>agA	p.S415R	COX10_uc010vvs.2_Missense_Mutation_p.S198R|COX10_uc010vvt.2_Missense_Mutation_p.S223R	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	415					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCTTCTGCAGCCTGTGGCACC	0.657													A	14110443	C	A	14110443	3	1	251	1	0	0	0	0	1	0	0	0	3762	738	26	5	1271	5	COX10	17	14110443	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		14110443	67084767	42	17602											
NF1	4763	broad.mit.edu	37	17	29654691	29654691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr17:29654691C>T	uc002hgg.3	+	37	5826	c.5443C>T	c.(5443-5445)Cag>Tag	p.Q1815*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1794*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q827*|NF1_uc010cso.3_Nonsense_Mutation_p.Q3*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1815					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1815*(2)|p.H1814fs*43(2)|p.Q1815L(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTCATGCACCAGGAGTGTGA	0.493			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29654691	C	T	29654691	4	4	251	1	0	0	0	0	0	1	0	0	10356	595	21	3	5654	3	NF1	17	29654691	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	15544248	29654691	51540519	43	17603											
ABHD3	171586	broad.mit.edu	37	18	19283692	19283692	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr18:19283692G>A	uc002ktl.2	-	1	319	c.179C>T	c.(178-180)aCc>aTc	p.T60I	ABHD3_uc010xao.1_Intron|MIB1_uc002ktp.3_5'Flank	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	Homo sapiens abhydrolase domain containing 3 (ABHD3), mRNA.	60						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTCACCCCCGGTCACTAACTG	0.547													A	19283692	G	A	19283692	3	1	251	1	0	0	0	0	1	0	0	0	83	1261	44	3	1082	3	ABHD3	18	19283692	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		19283692	58793556	44	17604											
PIK3R2	5296	broad.mit.edu	37	19	18280055	18280055	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:18280055C>T	uc002nia.1	+	15	2650	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	713	SH2 2.				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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GTCACCCTGGCGCACCCAGTg	0.751													T	18280055	C	T	18280055	3	4	251	1	0	0	0	0	1	0	0	0	11919	768	27	1	2196	1	PIK3R2	19	18280055	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		18280055	40848928	45	17605											
DHX34	9704	broad.mit.edu	37	19	47876058	47876058	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:47876058G>A	uc010xyn.2	+	7	2189	c.1840G>A	c.(1840-1842)Gtc>Atc	p.V614I	DHX34_uc010elc.1_Missense_Mutation_p.V529I	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	614						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-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;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCACTTAGCGTCCAGTCGCC	0.672													A	47876058	G	A	47876058	3	1	251	1	0	0	0	0	1	0	0	0	4507	1145	40	1	1866	1	DHX34	19	47876058	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	29596003	47876058	11252925	46	17606											
SIGLEC12	89858	broad.mit.edu	37	19	52004890	52004890	+	Missense_Mutation	SNP	G	G	A	rs141817270		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:52004890G>A	uc002pwx.1	-	0	154	c.98C>T	c.(97-99)aCg>aTg	p.T33M	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	33	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCCTGCACCGTCACGGACTT	0.577													A	52004890	G	A	52004890	3	1	251	1	0	0	0	0	1	0	0	0	14308	1145	40	1	1794	1	SIGLEC12	19	52004890	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	4128832	52004890	7124093	47	17607											
ZNF761	388561	broad.mit.edu	37	19	53958627	53958627	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:53958627G>A	uc010eqp.3	+	6	1324	c.866G>A	c.(865-867)cGt>cAt	p.R289H	ZNF761_uc010ydy.2_Missense_Mutation_p.R235H|ZNF761_uc002qbt.2_Missense_Mutation_p.R235H	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCGTAGACTTCAT	0.398													A	53958627	G	A	53958627	3	1	251	1	0	0	0	0	1	0	0	0	18133	1145	40	1	877	1	ZNF761	19	53958627	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	1953737	53958627	5170356	48	17608											
EPS8L1	54869	broad.mit.edu	37	19	55597484	55597484	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:55597484G>A	uc002qis.4	+	15	1678	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	EPS8L1_uc010ess.1_Missense_Mutation_p.G539E|EPS8L1_uc010yfr.2_Missense_Mutation_p.G461E|EPS8L1_uc002qiu.3_Missense_Mutation_p.G398E|EPS8L1_uc002qiv.3_Missense_Mutation_p.G203E|EPS8L1_uc002qiw.3_Missense_Mutation_p.G304E	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	525	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGCAGGAGGGATATGTGCCC	0.622													A	55597484	G	A	55597484	3	1	251	1	0	0	0	0	1	0	0	0	5195	1174	41	3	1684	3	EPS8L1	19	55597484	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	1638857	55597484	3531499	49	17609											
ZNF831	128611	broad.mit.edu	37	20	57767405	57767405	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr20:57767405C>T	uc002yan.3	+	0	1331	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	444						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)					GACCTGCCCACGCCCTACACC	0.682													T	57767405	C	T	57767405	3	4	251	1	0	0	0	0	1	0	0	0	18182	536	19	1	1333	1	ZNF831	20	57767405	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		57767405	5258115	50	17610											
TMPRSS15	5651	broad.mit.edu	37	21	19687506	19687506	+	Silent	SNP	G	G	A	rs148711749	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr21:19687506G>A	uc002ykw.3	-	16	2020	c.1989C>T	c.(1987-1989)gaC>gaT	p.D663D		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	663	LDL-receptor class A 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.D663D(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAGATGACCGTCACAGAGAT	0.398													A	19687506	G	A	19687506	2	1	251	1	0	0	0	0	0	0	0	1	16243	1136	40	1		1	TMPRSS15	21	19687506	Silent	SNP	G	TCGA-41-6646-01A-11D-1845-08		19687506	28442389	51	17611											
SLC5A1	6523	broad.mit.edu	37	22	32445981	32445981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:32445981C>T	uc003amc.3	+	1	437	c.187C>T	c.(187-189)Cga>Tga	p.R63*		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	63					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CCTGGCAGGCCGAAGTATGGT	0.448													T	32445981	C	T	32445981	4	4	251	1	0	0	0	0	0	1	0	0	14661	644	23	2	193	2	SLC5A1	22	32445981	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		32445981	18858585	52	17612											
CARD10	29775	broad.mit.edu	37	22	37906263	37906263	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:37906263G>A	uc003asx.1	-	3	882	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_5'Flank|CARD10_uc003asy.1_Missense_Mutation_p.R289W	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	289			R -> Q (in dbSNP:rs9610775).		activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCCGTCAGCCGCTGGTTCTCA	0.662													A	37906263	G	A	37906263	3	1	251	1	0	0	0	0	1	0	0	0	2644	1086	38	1	2301	1	CARD10	22	37906263	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	5460282	37906263	13398303	53	17613											
CXorf22	170063	broad.mit.edu	37	X	35985796	35985796	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:35985796G>A	uc004ddj.3	+	9	1727	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	554								p.R554R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGGCAAAACGCAAGAATTAT	0.393													A	35985796	G	A	35985796	3	1	251	1	0	0	0	0	1	0	0	0	4102	1087	38	1	1699	1	CXorf22	23	35985796	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		35985796	119284764	54	17614											
PCDH19	57526	broad.mit.edu	37	X	99662130	99662131	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:99662130_99662131delGA	uc010nmz.3	-	0	3141_3142	c.1465_1466delTC	c.(1465-1467)tccfs	p.S489fs	PCDH19_uc004efw.4_Frame_Shift_Del_p.S489fs|PCDH19_uc004efx.4_Frame_Shift_Del_p.S489fs	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	489	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GATCTGGTAGGAGACACTGCCG	0.584													-	99662131	GA	-	99662130	7	5	251	1	0	1	0	1	0	0	0	0	11514	1174	41	0	2004	0	PCDH19	23	99662130	Frame_Shift_Del	DEL	GA	TCGA-41-6646-01A-11D-1845-08	63676334	99662130	55608430	55	17615											
CROCC	9696	broad.mit.edu	37	1	17281847	17281847	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:17281847C>T	uc001azt.2	+	23	3575	c.3506C>T	c.(3505-3507)gCc>gTc	p.A1169V	CROCC_uc001azu.2_Missense_Mutation_p.A472V	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1169					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGGAGGATGCCCGTGACGGG	0.711													T	17281847	C	T	17281847	3	4	252	1	0	0	0	0	1	0	0	0	3893	739	26	3	3600	3	CROCC	1	17281847	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		17281847	231968774	1	17616											
GLIS1	148979	broad.mit.edu	37	1	54060541	54060541	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:54060541C>A	uc001cvr.1	-	2	602	c.35G>T	c.(34-36)tGt>tTt	p.C12F		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	12					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGGGCCCCGACAGTGGGCAGA	0.657													A	54060541	C	A	54060541	3	1	252	1	0	0	0	0	1	0	0	0	6445	478	17	5	1859	5	GLIS1	1	54060541	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	36778694	54060541	195190080	2	17617											
RSBN1	54665	broad.mit.edu	37	1	114354435	114354435	+	Silent	SNP	G	G	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:114354435G>C	uc001edq.3	-	0	636	c.600C>G	c.(598-600)ccC>ccG	p.P200P	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	200						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCACCATCGGGGCCGCGGT	0.637													C	114354435	G	C	114354435	2	2	252	1	0	0	0	0	0	0	0	1	13696	1103	39	5		5	RSBN1	1	114354435	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	60293894	114354435	134896186	3	17618											
F5	2153	broad.mit.edu	37	1	169510453	169510453	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:169510453G>A	uc001ggg.1	-	12	4020	c.3875C>T	c.(3874-3876)aCa>aTa	p.T1292I		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1292	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGAGAGGTTTGTCTGGCTGAA	0.522													A	169510453	G	A	169510453	3	1	252	1	0	0	0	0	1	0	0	0	5348	1377	48	3	2851	3	F5	1	169510453	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	55156018	169510453	79740168	4	17619											
OR2T10	127069	broad.mit.edu	37	1	248756796	248756796	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:248756796T>C	uc010pzn.2	-	0	274	c.274A>G	c.(274-276)Atc>Gtc	p.I92V		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			AGGACCGAGATGGTCTTGTCT	0.507													C	248756796	T	C	248756796	3	2	252	1	0	0	0	0	1	0	0	0	11017	1464	51	4	667	4	OR2T10	1	248756796	Missense_Mutation	SNP	T	TCGA-74-6573-01A-12D-1845-08	79246343	248756796	493825	5	17620											
LRP2	4036	broad.mit.edu	37	2	170163790	170163790	+	Splice_Site	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:170163790C>T	uc002ues.3	-	4	640	c.427_splice	c.e4+1	p.Q143_splice	LRP2_uc010zdf.1_Splice_Site_p.Q143_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	143	LDL-receptor class A 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACAGACTCACGGCAGTCATT	0.438													T	170163790	C	T	170163790	5	4	252	1	0	0	0	0	0	0	1	0	8956	550	19	1	13843	1	LRP2	2	170163790	Splice_Site	SNP	C	TCGA-74-6573-01A-12D-1845-08		170163790	73035583	6	17621											
ICA1L	130026	broad.mit.edu	37	2	203650727	203650727	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:203650727C>G	uc002uzh.1	-	12	1411	c.1247G>C	c.(1246-1248)tGg>tCg	p.W416S	ICA1L_uc002uzi.1_Missense_Mutation_p.W416S|ICA1L_uc021vvi.1_Non-coding_Transcript	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	416										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAGACCCAGTCTGGGAT	0.358													G	203650727	C	G	203650727	3	3	252	1	0	0	0	0	1	0	0	0	7478	595	21	5	209	5	ICA1L	2	203650727	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	33486937	203650727	39548646	7	17622											
DOCK3	1795	broad.mit.edu	37	3	51315131	51315131	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:51315131C>T	uc011bds.2	+	25	2792	c.2769C>T	c.(2767-2769)caC>caT	p.H923H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	923						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAAATCGCACGCTCAGGAGG	0.552													T	51315131	C	T	51315131	2	4	252	1	0	0	0	0	0	0	0	1	4688	535	19	1		1	DOCK3	3	51315131	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08		51315131	146707299	8	17623											
FHIT	2272	broad.mit.edu	37	3	59999845	59999845	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:59999845C>T	uc003dkx.4	-	5	508	c.137G>A	c.(136-138)cGc>cAc	p.R46H	FHIT_uc003dky.3_Missense_Mutation_p.R46H|FHIT_uc010hnn.1_Missense_Mutation_p.R46H	NM_002012	NP_002003	P49789	FHIT_HUMAN	Homo sapiens fragile histidine triad gene (FHIT), transcript variant 1, mRNA.	46	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GTCATGGAAGCGCTCCACTGG	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				T	59999845	C	T	59999845	3	4	252	1	0	0	0	0	1	0	0	0	5877	768	27	1	322	1	FHIT	3	59999845	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	8684714	59999845	138022585	9	17624											
ZBED2	79413	broad.mit.edu	37	3	111312907	111312907	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:111312907G>A	uc003dxy.3	-	1	1043	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.H48Y	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	48							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CCCTTGTTGTGGGGCATTGGA	0.552													A	111312907	G	A	111312907	3	1	252	1	0	0	0	0	1	0	0	0	17515	1348	47	3	518	3	ZBED2	3	111312907	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	51313062	111312907	86709523	10	17625											
C3orf15	89876	broad.mit.edu	37	3	119462849	119462849	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:119462849G>A	uc003ede.4	+	13	1785	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	C3orf15_uc010hqz.3_Missense_Mutation_p.G508R|C3orf15_uc011bjd.2_Missense_Mutation_p.G444R|C3orf15_uc011bje.2_Missense_Mutation_p.G550R	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	406						mitochondrion	protein binding	p.G570*(2)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CCATTTGGCCGGACTGGAAGG	0.453													A	119462849	G	A	119462849	3	1	252	1	0	0	0	0	1	0	0	0	2209	1117	39	2	1762	2	C3orf15	3	119462849	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	8149942	119462849	78559581	11	17626											
MECOM	2122	broad.mit.edu	37	3	168833248	168833248	+	Silent	SNP	G	G	A	rs140021434		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:168833248G>A	uc011bpj.1	-	7	2815	c.2412C>T	c.(2410-2412)aaC>aaT	p.N804N	MECOM_uc010hwk.1_Silent_p.N639N|MECOM_uc003ffj.3_Silent_p.N681N|MECOM_uc003ffi.3_Silent_p.N616N|MECOM_uc011bpi.1_Silent_p.N617N|MECOM_uc003ffn.3_Silent_p.N616N|MECOM_uc003ffk.2_Silent_p.N616N|MECOM_uc003ffl.2_Silent_p.N776N|MECOM_uc011bpk.1_Silent_p.N616N|MECOM_uc010hwn.2_Silent_p.N804N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	25							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGATTCGACGTTGCTTCCTT	0.488													A	168833248	G	A	168833248	2	1	252	1	0	0	0	0	0	0	0	1	9422	1136	40	1		1	MECOM	3	168833248	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	49370399	168833248	29189182	12	17627											
JAKMIP1	152789	broad.mit.edu	37	4	6062187	6062187	+	Silent	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:6062187G>A	uc010idb.1	-	10	2094	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	JAKMIP1_uc010idc.1_Silent_p.I351I|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Silent_p.I536I|JAKMIP1_uc011bwc.2_Silent_p.I371I|JAKMIP1_uc003giv.4_Silent_p.I536I|JAKMIP1_uc010ide.3_Silent_p.I536I	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	536	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAAATCTTCGATTTTGGCCT	0.532													A	6062187	G	A	6062187	2	1	252	1	0	0	0	0	0	0	0	1	7940	1048	37	2		2	JAKMIP1	4	6062187	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08		6062187	185092089	13	17628											
ABLIM2	84448	broad.mit.edu	37	4	8089918	8089918	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:8089918C>T	uc003gko.3	-	3	575	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_uc003gkm.4_Silent_p.A144A|ABLIM2_uc003gkp.3_Silent_p.A144A|ABLIM2_uc003gkq.3_Silent_p.A144A|ABLIM2_uc003gkr.3_Silent_p.A144A|ABLIM2_uc003gkj.4_Silent_p.A144A|ABLIM2_uc003gks.3_Silent_p.A144A|ABLIM2_uc011bwl.1_Silent_p.A149A	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	144					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632													T	8089918	C	T	8089918	2	4	252	1	0	0	0	0	0	0	0	1	95	755	27	1		1	ABLIM2	4	8089918	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08	2027731	8089918	183064358	14	17629											
SORBS2	8470	broad.mit.edu	37	4	186545046	186545046	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:186545046G>A	uc003iyg.3	-	12	1899	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.R609C|SORBS2_uc003iyl.3_Missense_Mutation_p.R509C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.R413C|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	509						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.D623Y(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCGGAGATGCGTGTGGGCACC	0.572													A	186545046	G	A	186545046	3	1	252	1	0	0	0	0	1	0	0	0	14928	1145	40	1	1813	1	SORBS2	4	186545046	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	178455128	186545046	4609230	15	17630											
PIK3R1	5295	broad.mit.edu	37	5	67589601	67589602	+	In_Frame_Ins	INS	-	-	GTT			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:67589601_67589602insGTT	uc003jva.3	+	10	1944_1945	c.1364_1365insGTT	c.(1363-1365)cag>caGTTg	p.455_456insL	PIK3R1_uc003jvc.3_In_Frame_Ins_p.155_156insL|PIK3R1_uc003jvd.3_In_Frame_Ins_p.185_186insL|PIK3R1_uc003jve.3_In_Frame_Ins_p.134_135insL|PIK3R1_uc021xzn.1_In_Frame_Ins_p.92_93insL|PIK3R1_uc011crb.2_In_Frame_Ins_p.125_126insL	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	455					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N453_T454insN(3)|p.F456_R461del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.T454_Q455>Q(1)|p.T454I(1)|p.0?(1)|p.?(1)|p.Q455K(1)|p.453_454insN(1)|p.F456_R461>S(1)|p.Y452_Q455>SGGSRIK(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATAACACTCAGTTTCAAGAAA	0.287			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			GTT	67589602	-	GTT	67589601	7	5	252	1	0	1	1	0	0	0	0	0	11918	188	7	0	1532	0	PIK3R1	5	67589601	In_Frame_Ins	INS	-	TCGA-74-6573-01A-12D-1845-08		67589601	113325659	16	17631											
TMEM174	134288	broad.mit.edu	37	5	72469563	72469563	+	Missense_Mutation	SNP	G	G	A	rs138671212		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:72469563G>A	uc010izc.3	+	0	541	c.493G>A	c.(493-495)Ggc>Agc	p.G165S		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	165						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAGCCCCTGCGGCCTCATAAC	0.547													A	72469563	G	A	72469563	3	1	252	1	0	0	0	0	1	0	0	0	16087	1116	39	2	495	2	TMEM174	5	72469563	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	4879962	72469563	108445697	17	17632											
HTR4	3360	broad.mit.edu	37	5	147830788	147830788	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:147830788G>A	uc021yfh.1	-	5	1171	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	HTR4_uc021yfg.1_3'UTR|HTR4_uc010jgu.1_Non-coding_Transcript	NM_001040169	NP_001035259	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant a, mRNA.	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	ATTGTGTATGGGCAGTTTCTC	0.468													A	147830788	G	A	147830788	3	1	252	1	0	0	0	0	1	0	0	0	7449	1232	43	3	43	3	HTR4	5	147830788	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	75361225	147830788	33084472	18	17633											
PDGFRB	5159	broad.mit.edu	37	5	149501489	149501489	+	Silent	SNP	G	G	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:149501489G>T	uc003lro.3	-	15	2767	c.2298C>A	c.(2296-2298)atC>atA	p.I766I	PDGFRB_uc010jhd.3_Silent_p.I605I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	766	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAGGACTCGATGTCTGCAT	0.532			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								T	149501489	G	T	149501489	2	4	252	1	0	0	0	0	0	0	0	1	11662	1048	37	5		5	PDGFRB	5	149501489	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	1670701	149501489	31413771	19	17634											
KIF13A	63971	broad.mit.edu	37	6	17805708	17805708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr6:17805708C>A	uc003ncg.4	-	18	2462	c.2302G>T	c.(2302-2304)Gag>Tag	p.E768*	KIF13A_uc003ncf.3_Nonsense_Mutation_p.E768*|KIF13A_uc003nch.4_Nonsense_Mutation_p.E768*|KIF13A_uc003nci.4_Nonsense_Mutation_p.E768*	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	768					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTTTTACCTCAGGAACTTTT	0.383													A	17805708	C	A	17805708	4	1	252	1	0	0	0	0	0	1	0	0	8274	835	29	5	3224	5	KIF13A	6	17805708	Nonsense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		17805708	153309359	20	17635											
MPP6	51678	broad.mit.edu	37	7	24727093	24727093	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:24727093C>T	uc003swx.3	+	12	1782	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W	MPP6_uc003swy.3_Missense_Mutation_p.R495W	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	495	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGAAAGTGCACGGATTCAGAG	0.348													T	24727093	C	T	24727093	3	4	252	1	0	0	0	0	1	0	0	0	9738	527	19	1	1525	1	MPP6	7	24727093	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		24727093	134411570	21	17636											
AOAH	313	broad.mit.edu	37	7	36571798	36571798	+	Silent	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:36571798G>A	uc022abu.1	-	17	1781	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_uc003tfh.4_Silent_p.H460H|AOAH_uc011kba.2_Silent_p.H428H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	460					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H460H(4)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512													A	36571798	G	A	36571798	2	1	252	1	0	0	0	0	0	0	0	1	726	1136	40	1		1	AOAH	7	36571798	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	11844705	36571798	122566865	22	17637											
VSTM2A	222008	broad.mit.edu	37	7	54617588	54617588	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:54617588A>G	uc022adk.1	+	3	764	c.359A>G	c.(358-360)aAg>aGg	p.K120R	VSTM2A_uc010kzf.3_Missense_Mutation_p.K120R	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	120	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GTGAGGAAAAAGGATGAAGGC	0.443													G	54617588	A	G	54617588	3	3	252	1	0	0	0	0	1	0	0	0	17226	72	3	4	373	4	VSTM2A	7	54617588	Missense_Mutation	SNP	A	TCGA-74-6573-01A-12D-1845-08	18045790	54617588	104521075	23	17638											
CCT6A	908	broad.mit.edu	37	7	56127280	56127280	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:56127280G>A	uc003trl.1	+	8	1176	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.D293N|CCT6A_uc011kcu.1_Missense_Mutation_p.D307N|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	338					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCTTTTGACGACCTAAGTCC	0.398													A	56127280	G	A	56127280	3	1	252	1	0	0	0	0	1	0	0	0	2957	1058	37	2	1046	2	CCT6A	7	56127280	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	1509692	56127280	103011383	24	17639											
SUMF2	25870	broad.mit.edu	37	7	56141892	56141892	+	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:56141892delA	uc011kcw.2	+	3	453	c.422delA	c.(421-423)gaafs	p.E141fs	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Frame_Shift_Del_p.E34fs|SUMF2_uc003trv.3_Frame_Shift_Del_p.E141fs|SUMF2_uc011kcy.2_Intron|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Intron|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Frame_Shift_Del_p.E141fs	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	122						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCCAGTGGAAAAGGCATTT	0.562											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	56141892	A	-	56141892	7	5	252	1	0	1	0	1	0	0	0	0	15383	246	9	0	436	0	SUMF2	7	56141892	Frame_Shift_Del	DEL	A	TCGA-74-6573-01A-12D-1845-08	14612	56141892	102996771	25	17640											
OCM2	4951	broad.mit.edu	37	7	97617753	97617753	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:97617753C>T	uc003upc.3	-	1	169	c.169G>A	c.(169-171)Ggg>Agg	p.G57R		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	Homo sapiens oncomodulin 2 (OCM2), mRNA.	57	EF-hand 1.						calcium ion binding			lung(4)	4						TCCAGATACCCGCTCTGGTCG	0.537													T	97617753	C	T	97617753	3	4	252	1	0	0	0	0	1	0	0	0	10822	652	23	2	172	2	OCM2	7	97617753	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	41475861	97617753	61520910	26	17641											
GPC2	221914	broad.mit.edu	37	7	99773980	99773980	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:99773980G>A	uc003utv.3	-	1	343	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Missense_Mutation_p.L59F|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	59						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGACCCGGAGGTGCTCACCT	0.567													A	99773980	G	A	99773980	3	1	252	1	0	0	0	0	1	0	0	0	6598	1000	35	3	1600	3	GPC2	7	99773980	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	2156227	99773980	59364683	27	17642											
PILRB	29990	broad.mit.edu	37	7	99955938	99955938	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:99955938C>T	uc022aim.1	+	5	1085	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Silent_p.L5L	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	5					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGTCGGCCCCTGCTGCTGCC	0.667													T	99955938	C	T	99955938	2	4	252	1	0	0	0	0	0	0	0	1	11926	680	24	3		3	PILRB	7	99955938	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08	181958	99955938	59182725	28	17643											
WDR86	349136	broad.mit.edu	37	7	151097266	151097266	+	Silent	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:151097266G>A	uc011kvk.1	-	1	674	c.225C>T	c.(223-225)gcC>gcT	p.A75A	WDR86_uc003wka.2_Silent_p.A33A|WDR86_uc003wkb.2_Silent_p.A75A|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	75										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTGCAGTCGGCGCTGCATG	0.607													A	151097266	G	A	151097266	2	1	252	1	0	0	0	0	0	0	0	1	17331	1103	39	2		2	WDR86	7	151097266	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	51141328	151097266	8041397	29	17644											
PIWIL2	55124	broad.mit.edu	37	8	22211836	22211836	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:22211836A>G	uc003xbn.2	+	21	2858	c.2710A>G	c.(2710-2712)Acg>Gcg	p.T904A	PIWIL2_uc011kzf.1_Intron|PIWIL2_uc010ltv.2_Missense_Mutation_p.T904A|PIWIL2_uc003xbo.2_Missense_Mutation_p.T58A	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	904	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGGCATTCCTACGCATTATGT	0.453													G	22211836	A	G	22211836	3	3	252	1	0	0	0	0	1	0	0	0	11958	391	14	4	2792	4	PIWIL2	8	22211836	Missense_Mutation	SNP	A	TCGA-74-6573-01A-12D-1845-08		22211836	124152186	30	17645											
COL14A1	7373	broad.mit.edu	37	8	121160106	121160106	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:121160106C>T	uc003yox.3	+	1	290	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	9					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			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)			GCGCAAGATGCGGTACTGGTT	0.423													T	121160106	C	T	121160106	3	4	252	1	0	0	0	0	1	0	0	0	3671	759	27	1	27	1	COL14A1	8	121160106	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	98948270	121160106	25203916	31	17646											
PTPRD	5789	broad.mit.edu	37	9	8341178	8341178	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:8341178G>C	uc003zkk.3	-	40	5781	c.5038C>G	c.(5038-5040)Cca>Gca	p.P1680A	PTPRD_uc003zkp.3_Missense_Mutation_p.P1274A|PTPRD_uc003zkq.3_Missense_Mutation_p.P1273A|PTPRD_uc003zkr.3_Missense_Mutation_p.P1264A|PTPRD_uc003zks.3_Missense_Mutation_p.P1273A|PTPRD_uc022bdj.1_Missense_Mutation_p.P1270A	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1680	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		GATTCATATGGCATAATATTA	0.393										TSP Lung(15;0.13)			C	8341178	G	C	8341178	3	2	252	1	0	0	0	0	1	0	0	0	12799	1203	42	5	724	5	PTPRD	9	8341178	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		8341178	132872253	32	17647			1	39		2	2	26	G		4.441583e-05
PTPRD	5789	broad.mit.edu	37	9	8341203	8341203	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:8341203G>C	uc003zkk.3	-	40	5756	c.5013C>G	c.(5011-5013)ttC>ttG	p.F1671L	PTPRD_uc003zkp.3_Missense_Mutation_p.F1265L|PTPRD_uc003zkq.3_Missense_Mutation_p.F1264L|PTPRD_uc003zkr.3_Missense_Mutation_p.F1255L|PTPRD_uc003zks.3_Missense_Mutation_p.F1264L|PTPRD_uc022bdj.1_Missense_Mutation_p.F1261L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1671	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)		GGCGATTTTTGAATTTATTAC	0.388										TSP Lung(15;0.13)			C	8341203	G	C	8341203	3	2	252	1	0	0	0	0	1	0	0	0	12799	1281	45	5	749	5	PTPRD	9	8341203	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	25	8341203	132872228	33	17648			1	39		2	2	26	G		4.441583e-05
TRAF1	7185	broad.mit.edu	37	9	123673632	123673632	+	Missense_Mutation	SNP	C	C	T	rs149705933		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:123673632C>T	uc004bku.2	-	5	1437	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	TRAF1_uc011lyg.2_Missense_Mutation_p.V167I|TRAF1_uc010mvl.2_Missense_Mutation_p.V289I	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	289	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	p.V289I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						AAGAGGCTGACGGTCCTGCCA	0.612													T	123673632	C	T	123673632	3	4	252	1	0	0	0	0	1	0	0	0	16434	536	19	1	397	1	TRAF1	9	123673632	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	115332429	123673632	17539799	34	17649											
SLC2A8	29988	broad.mit.edu	37	9	130165020	130165020	+	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:130165020delC	uc004bqu.3	+	4	756	c.711delC	c.(709-711)atcfs	p.I237fs	SLC2A8_uc010mxj.3_Frame_Shift_Del_p.I237fs	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	237						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACCCCCCCATCGGGGCTGAGC	0.677													-	130165020	C	-	130165020	7	5	252	1	0	1	0	1	0	0	0	0	14551	874	31	0	729	0	SLC2A8	9	130165020	Frame_Shift_Del	DEL	C	TCGA-74-6573-01A-12D-1845-08	6491388	130165020	11048411	35	17650											
ST8SIA6	338596	broad.mit.edu	37	10	17363244	17363244	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr10:17363244G>A	uc001ipd.3	-	7	830	c.830C>T	c.(829-831)aCg>aTg	p.T277M	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	277					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.T277T(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAGGTACCCGTGTTGGCCCT	0.418													A	17363244	G	A	17363244	3	1	252	1	0	0	0	0	1	0	0	0	15235	1145	40	1	370	1	ST8SIA6	10	17363244	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		17363244	118171503	36	17651											
OR10A3	26496	broad.mit.edu	37	11	7960683	7960683	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:7960683G>A	uc010rbi.2	-	0	385	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGTTCAGAGGATGGCAAATT	0.438													A	7960683	G	A	7960683	3	1	252	1	0	0	0	0	1	0	0	0	10891	1174	41	3	562	3	OR10A3	11	7960683	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		7960683	127045833	37	17652											
ELP4	26610	broad.mit.edu	37	11	31531364	31531364	+	Silent	SNP	C	C	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:31531364C>G	uc001mtc.3	+	0	68	c.33C>G	c.(31-33)gcC>gcG	p.A11A	IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mtb.3_Silent_p.A11A|ELP4_uc010rdz.2_Silent_p.A11A|IMMP1L_uc009yjo.3_5'Flank|IMMP1L_uc009yjp.3_5'Flank			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	11					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GTAGTGTTGCCGCGAGTACTG	0.587													G	31531364	C	G	31531364	2	3	252	1	0	0	0	0	0	0	0	1	5082	639	23	5		5	ELP4	11	31531364	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08	23570681	31531364	103475152	38	17653											
KAT5	10524	broad.mit.edu	37	11	65486084	65486084	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:65486084G>A	uc001ofi.3	+	11	1455	c.1189G>A	c.(1189-1191)Ggg>Agg	p.G397R	KAT5_uc001ofj.3_Missense_Mutation_p.G345R|KAT5_uc001ofk.3_Missense_Mutation_p.G430R|KAT5_uc010roo.2_Missense_Mutation_p.G378R|KAT5_uc001ofl.3_Missense_Mutation_p.G186R|RNASEH2C_uc001ofm.3_Non-coding_Transcript|RNASEH2C_uc001ofn.3_3'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	397					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CAAAGTGGAAGGGAAAACAGG	0.502													A	65486084	G	A	65486084	3	1	252	1	0	0	0	0	1	0	0	0	7983	1000	35	3	1330	3	KAT5	11	65486084	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	33954720	65486084	69520432	39	17654											
KRT75	9119	broad.mit.edu	37	12	52824357	52824357	+	Missense_Mutation	SNP	G	G	A	rs2232397	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:52824357G>A	uc001saj.2	-	4	1025	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	335	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCTCGGCCCGGCTGCGGTTG	0.547													A	52824357	G	A	52824357	3	1	252	1	0	0	0	0	1	0	0	0	8488	1115	39	2	672	2	KRT75	12	52824357	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		52824357	81027538	40	17655											
ACTR6	64431	broad.mit.edu	37	12	100601474	100601474	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:100601474G>A	uc001thb.1	+	3	345	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	ACTR6_uc010svh.2_Missense_Mutation_p.E97K|ACTR6_uc001thc.1_5'UTR|ACTR6_uc009ztu.2_5'UTR|ACTR6_uc001the.1_Missense_Mutation_p.E15K|AX746635_uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	Homo sapiens ARP6 actin-related protein 6 homolog (yeast) (ACTR6), mRNA.	97						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TATTATCACTGAACCATACTT	0.259													A	100601474	G	A	100601474	3	1	252	1	0	0	0	0	1	0	0	0	216	1291	45	3	303	3	ACTR6	12	100601474	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	47777117	100601474	33250421	41	17656											
SYCP3	50511	broad.mit.edu	37	12	102128812	102128812	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:102128812G>T	uc001tir.3	-	4	385	c.246C>A	c.(244-246)aaC>aaA	p.N82K	SYCP3_uc001tiq.3_Missense_Mutation_p.N82K|SYCP3_uc001tis.3_Missense_Mutation_p.N82K	NM_001177949	NP_710161	Q8IZU3	SYCP3_HUMAN	Homo sapiens synaptonemal complex protein 3 (SYCP3), transcript variant 1, mRNA.	82					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GAAGAGCCTTGTTAATGTCAA	0.308													T	102128812	G	T	102128812	3	4	252	1	0	0	0	0	1	0	0	0	15431	1368	48	5	484	5	SYCP3	12	102128812	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	1527338	102128812	31723083	42	17657											
EIF2B1	1967	broad.mit.edu	37	12	124111633	124111633	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:124111633C>T	uc001ufm.3	-	4	659	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	EIF2B1_uc010tat.2_Missense_Mutation_p.R147Q	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	147					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	p.R147*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TACACTAAATCGCTTCTTGGC	0.502													T	124111633	C	T	124111633	3	4	252	1	0	0	0	0	1	0	0	0	5000	884	31	2	497	2	EIF2B1	12	124111633	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	21982821	124111633	9740262	43	17658											
TMEM62	80021	broad.mit.edu	37	15	43476674	43476674	+	Missense_Mutation	SNP	C	C	T	rs146146981	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:43476674C>T	uc001zqr.3	+	13	2101	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	TMEM62_uc010bda.3_Missense_Mutation_p.R443W|CCNDBP1_uc021sjs.1_5'Flank|CCNDBP1_uc001zqv.3_5'Flank|CCNDBP1_uc010udl.2_5'Flank|CCNDBP1_uc021sjt.1_5'Flank|CCNDBP1_uc021sju.1_5'Flank|CCNDBP1_uc010bdb.3_5'Flank|CCNDBP1_uc001zqy.3_5'Flank	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	608						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTCCCCTTTGCGGACCTGGTT	0.448													T	43476674	C	T	43476674	3	4	252	1	0	0	0	0	1	0	0	0	16186	759	27	1	1876	1	TMEM62	15	43476674	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		43476674	59054718	44	17659											
MYO5A	4644	broad.mit.edu	37	15	52681529	52681529	+	Missense_Mutation	SNP	T	T	G			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:52681529T>G	uc002aby.2	-	12	1818	c.1574A>C	c.(1573-1575)cAa>cCa	p.Q525P	MYO5A_uc002abx.3_Missense_Mutation_p.Q525P|MYO5A_uc010uge.1_Missense_Mutation_p.Q394P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	525	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTACAATTTTTGGGCCCAGGT	0.378													G	52681529	T	G	52681529	3	3	252	1	0	0	0	0	1	0	0	0	10078	1812	63	5	4109	5	MYO5A	15	52681529	Missense_Mutation	SNP	T	TCGA-74-6573-01A-12D-1845-08	9204855	52681529	49849863	45	17660											
TMC3	342125	broad.mit.edu	37	15	81625404	81625404	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:81625404A>C	uc021ssk.1	-	21	2659	c.2659T>G	c.(2659-2661)Tac>Gac	p.Y887D	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	887						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATGACATAGTATCTGGGGGCG	0.473													C	81625404	A	C	81625404	3	2	252	1	0	0	0	0	1	0	0	0	15983	449	16	5	647	5	TMC3	15	81625404	Missense_Mutation	SNP	A	TCGA-74-6573-01A-12D-1845-08	28943875	81625404	20905988	46	17661											
RANBP10	57610	broad.mit.edu	37	16	67840366	67840366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr16:67840366delC	uc002eud.3	-	0	190	c.74delG	c.(73-75)ggcfs	p.G25fs	RANBP10_uc010ceo.3_5'UTR|RANBP10_uc010vju.2_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjv.2_5'UTR|RANBP10_uc010vjx.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.4_5'Flank|TSNAXIP1_uc010vka.2_5'Flank|TSNAXIP1_uc010vkb.2_5'Flank|TSNAXIP1_uc002eug.4_5'Flank|TSNAXIP1_uc002euh.4_5'Flank|TSNAXIP1_uc002eui.4_5'Flank|TSNAXIP1_uc002euj.3_5'Flank	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	25										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGGCAGCCCGCCCCCAGCGCC	0.711													-	67840366	C	-	67840366	7	5	252	1	0	1	0	1	0	0	0	0	13026	739	26	0	1844	0	RANBP10	16	67840366	Frame_Shift_Del	DEL	C	TCGA-74-6573-01A-12D-1845-08		67840366	22514387	47	17662											
TP53	7157	broad.mit.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr17:7578211C>T	uc002gim.2	-	5	832	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_uc002gig.1_Missense_Mutation_p.R213Q|TP53_uc002gih.3_Missense_Mutation_p.R213Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R81Q|TP53_uc010cnf.1_Missense_Mutation_p.R81Q|TP53_uc002gii.1_Missense_Mutation_p.R81Q|TP53_uc010cni.1_Missense_Mutation_p.R213Q|TP53_uc010cnh.1_Missense_Mutation_p.R213Q|TP53_uc002gij.2_Missense_Mutation_p.R213Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120Q|TP53_uc002gio.2_Missense_Mutation_p.R81Q|TP53_uc010vug.2_Missense_Mutation_p.R174Q|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(217)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(11)|p.R213P(10)|p.R213fs*34(10)|p.0?(8)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R213R(4)|p.F212L(3)|p.R213G(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.R81Q(2)|p.F212S(2)|p.R213>L(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.D208fs*1(1)|p.F212Y(1)|p.T211fs*28(1)|p.R213fs*35(1)|p.R209fs*6(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)		CACACTATGTCGAAAAGTGTT	0.532		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			T	7578211	C	T	7578211	3	4	252	1	0	0	0	0	1	0	0	0	16378	884	31	2	656	2	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		7578211	73616999	48	17663											
INSR	3643	broad.mit.edu	37	19	7120678	7120678	+	Silent	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:7120678T>C	uc002mgd.1	-	19	3721	c.3612A>G	c.(3610-3612)gcA>gcG	p.A1204A	INSR_uc002mge.1_Silent_p.A1192A	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1204	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGACTCCGGTGCCATCCACC	0.522													C	7120678	T	C	7120678	2	2	252	1	0	0	0	0	0	0	0	1	7773	1683	59	4		4	INSR	19	7120678	Silent	SNP	T	TCGA-74-6573-01A-12D-1845-08		7120678	52008305	49	17664											
PNPLA6	10908	broad.mit.edu	37	19	7622102	7622102	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:7622102T>C	uc010xjq.2	+	28	3599	c.3359T>C	c.(3358-3360)cTg>cCg	p.L1120P	PNPLA6_uc002mgq.2_Missense_Mutation_p.L1072P|PNPLA6_uc010xjp.2_Missense_Mutation_p.L1045P|PNPLA6_uc002mgr.2_Missense_Mutation_p.L1072P|PNPLA6_uc002mgs.3_Missense_Mutation_p.L1110P	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1111	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGGGCTACCTGCCCCCGCTG	0.662													C	7622102	T	C	7622102	3	2	252	1	0	0	0	0	1	0	0	0	12169	1580	55	4	3469	4	PNPLA6	19	7622102	Missense_Mutation	SNP	T	TCGA-74-6573-01A-12D-1845-08	501424	7622102	51506881	50	17665											
SLC1A6	6511	broad.mit.edu	37	19	15061033	15061033	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:15061033G>A	uc002naa.1	-	8	1676	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	SLC1A6_uc010dzu.1_Missense_Mutation_p.R479W|SLC1A6_uc010xod.1_Missense_Mutation_p.R493W	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	557					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R557Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TTGCCTCCCCGTCCCCGGGAT	0.647													A	15061033	G	A	15061033	3	1	252	1	0	0	0	0	1	0	0	0	14436	1144	40	1	29	1	SLC1A6	19	15061033	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	7438931	15061033	44067950	51	17666											
FFAR3	2865	broad.mit.edu	37	19	35850547	35850547	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:35850547G>T	uc002nzd.3	+	1	830	c.755G>T	c.(754-756)gGt>gTt	p.G252V	FFAR3_uc021usm.1_Missense_Mutation_p.G252V	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	252						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TATATCTGCGGTGAAAGCCCG	0.607													T	35850547	G	T	35850547	3	4	252	1	0	0	0	0	1	0	0	0	5829	1261	44	5	757	5	FFAR3	19	35850547	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	20789514	35850547	23278436	52	17667											
DPRX	503834	broad.mit.edu	37	19	54140039	54140039	+	Nonsense_Mutation	SNP	C	C	T	rs150237904		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:54140039C>T	uc002qcf.1	+	2	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567													T	54140039	C	T	54140039	4	4	252	1	0	0	0	0	0	1	0	0	4738	876	31	2	383	2	DPRX	19	54140039	Nonsense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	18289492	54140039	4988944	53	17668											
TRIOBP	11078	broad.mit.edu	37	22	38120288	38120288	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr22:38120288C>T	uc003atr.3	+	6	1996	c.1725C>T	c.(1723-1725)ccC>ccT	p.P575P	TRIOBP_uc003atu.3_Silent_p.P403P|TRIOBP_uc003atq.1_Silent_p.P575P|TRIOBP_uc003ats.1_Silent_p.P403P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	575					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGACAACCCCAGAACATCCT	0.582													T	38120288	C	T	38120288	2	4	252	1	0	0	0	0	0	0	0	1	16550	581	21	3		3	TRIOBP	22	38120288	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08		38120288	13184278	54	17669											
SATL1	340562	broad.mit.edu	37	X	84363108	84363108	+	Silent	SNP	C	C	T			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chrX:84363108C>T	uc004een.3	-	0	867	c.867G>A	c.(865-867)gtG>gtA	p.V289V		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	102	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTTCATGTCCACTTGGTTCA	0.463													T	84363108	C	T	84363108	2	4	252	1	0	0	0	0	0	0	0	1	13855	581	21	3		3	SATL1	23	84363108	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08		84363108	70907452	55	17670											
SERINC2	347735	broad.mit.edu	37	1	31897702	31897702	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:31897702G>A	uc021okm.1	+	3	674	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	SERINC2_uc010ogg.2_Missense_Mutation_p.R129Q|SERINC2_uc009vtw.1_Missense_Mutation_p.R125Q|SERINC2_uc001bst.3_Missense_Mutation_p.R125Q|SERINC2_uc001bsu.3_Missense_Mutation_p.R70Q|SERINC2_uc010ogh.2_Missense_Mutation_p.R129Q	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	125						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CGGGACCCCCGGGCTGCCATC	0.647													A	31897702	G	A	31897702	3	1	253	1	0	0	0	0	1	0	0	0	14080	1116	39	2	384	2	SERINC2	1	31897702	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		31897702	217352919	1	17671											
WLS	79971	broad.mit.edu	37	1	68610274	68610274	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:68610274A>G	uc001dee.3	-	9	1636	c.1334T>C	c.(1333-1335)gTc>gCc	p.V445A	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Missense_Mutation_p.V447A|WLS_uc001deg.2_Missense_Mutation_p.V356A|WLS_uc009wbf.1_Missense_Mutation_p.V402A	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	447					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	p.M445T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GAAGAAGATGACAGTCATGGC	0.443													G	68610274	A	G	68610274	3	3	253	1	0	0	0	0	1	0	0	0	17373	275	10	4	423	4	WLS	1	68610274	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	36712572	68610274	180640347	2	17672											
SLC35A3	23443	broad.mit.edu	37	1	100464899	100464899	+	Silent	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:100464899A>C	uc001dsr.1	+	2	497	c.396A>C	c.(394-396)ccA>ccC	p.P132P	SLC35A3_uc001dsp.1_Silent_p.P90P|SLC35A3_uc009wdy.1_Silent_p.P90P|SLC35A3_uc001dss.1_Silent_p.P9P	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	Homo sapiens solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 (SLC35A3), mRNA.	90					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTGCTATTCCATCAGGGATCT	0.308													C	100464899	A	C	100464899	2	2	253	1	0	0	0	0	0	0	0	1	14572	204	8	5		5	SLC35A3	1	100464899	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	31854625	100464899	148785722	3	17673											
THEM5	284486	broad.mit.edu	37	1	151820732	151820732	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:151820732G>A	uc021oyw.1	-	3	633	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	167							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGTCTCGTCCATCATGG	0.587													A	151820732	G	A	151820732	2	1	253	1	0	0	0	0	0	0	0	1	15856	1136	40	1		1	THEM5	1	151820732	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	51355833	151820732	97429889	4	17674											
CD1E	913	broad.mit.edu	37	1	158325309	158325309	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:158325309G>A	uc001fse.3	+	2	868	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	CD1E_uc010pid.2_Missense_Mutation_p.R190Q|CD1E_uc010pie.2_Missense_Mutation_p.R93Q|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.R192Q|CD1E_uc001fsf.3_Missense_Mutation_p.R192Q|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.R93Q|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.R192Q|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	192	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACCTGCCCTCGATTTCTAGCG	0.507													A	158325309	G	A	158325309	3	1	253	1	0	0	0	0	1	0	0	0	2978	1058	37	2	585	2	CD1E	1	158325309	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	6504577	158325309	90925312	5	17675											
SPTA1	6708	broad.mit.edu	37	1	158621161	158621161	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:158621161C>T	uc001fst.1	-	23	3672	c.3473G>A	c.(3472-3474)cGg>cAg	p.R1158Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1158					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTACCTGCCGGATTTGAGC	0.463													T	158621161	C	T	158621161	3	4	253	1	0	0	0	0	1	0	0	0	15115	652	23	2	3902	2	SPTA1	1	158621161	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	295852	158621161	90629460	6	17676											
SLAMF6	114836	broad.mit.edu	37	1	160461161	160461161	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:160461161G>T	uc001fwe.2	-	2	470	c.400C>A	c.(400-402)Caa>Aaa	p.Q134K	SLAMF6_uc010pji.2_Missense_Mutation_p.Q23K|SLAMF6_uc001fwd.2_Missense_Mutation_p.Q134K|SLAMF6_uc010pjh.2_Missense_Mutation_p.Q85K|SLAMF6_uc010pjj.2_Missense_Mutation_p.Q23K|SLAMF6_uc009wtm.2_Missense_Mutation_p.Q85K	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	134	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTGGTAACTTGTATGTTCCTC	0.418													T	160461161	G	T	160461161	3	4	253	1	0	0	0	0	1	0	0	0	14368	1386	48	5	622	5	SLAMF6	1	160461161	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	1840000	160461161	88789460	7	17677											
NCF2	4688	broad.mit.edu	37	1	183532621	183532621	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:183532621G>A	uc001gqj.4	-	11	1401	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	NCF2_uc010pod.2_Missense_Mutation_p.R331W|NCF2_uc010poe.2_Missense_Mutation_p.R295W|NCF2_uc001gqk.4_Missense_Mutation_p.R376W	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	376	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ACCATGTCCCGGACCTGGCTG	0.567													A	183532621	G	A	183532621	3	1	253	1	0	0	0	0	1	0	0	0	10217	1115	39	2	470	2	NCF2	1	183532621	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	23071460	183532621	65718000	8	17678											
CFHR5	81494	broad.mit.edu	37	1	196977626	196977626	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:196977626T>C	uc001gts.4	+	9	1651	c.1523T>C	c.(1522-1524)gTg>gCg	p.V508A		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	508	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GATCCATGTGTGGTATCTGAA	0.289													C	196977626	T	C	196977626	3	2	253	1	0	0	0	0	1	0	0	0	3288	1696	59	4	1561	4	CFHR5	1	196977626	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	13445005	196977626	52272995	9	17679											
USH2A	7399	broad.mit.edu	37	1	216498789	216498789	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:216498789C>T	uc001hku.1	-	5	1388	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	USH2A_uc001hkv.3_Missense_Mutation_p.R334Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	334	Laminin N-terminal.		R -> Q (in USH2A).|R -> W (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		AGGATTCAACCGTGACACTCT	0.468										HNSCC(13;0.011)			T	216498789	C	T	216498789	3	4	253	1	0	0	0	0	1	0	0	0	17033	652	23	2	14889	2	USH2A	1	216498789	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	19521163	216498789	32751832	10	17680											
OR14A16	284532	broad.mit.edu	37	1	247978682	247978682	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:247978682G>A	uc001idm.1	-	0	350	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCGGTCAAAGGACATCACCGT	0.483													A	247978682	G	A	247978682	3	1	253	1	0	0	0	0	1	0	0	0	10945	1174	41	3	583	3	OR14A16	1	247978682	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	31479893	247978682	1271939	11	17681											
OR2L13	284521	broad.mit.edu	37	1	248263535	248263535	+	Silent	SNP	C	C	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:248263535C>A	uc001ids.3	+	2	1195	c.858C>A	c.(856-858)ccC>ccA	p.P286P	OR2L13_uc021pmc.1_Silent_p.P286P	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P286P(3)|p.P286S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TGCTCAATCCCATTATCTACA	0.493													A	248263535	C	A	248263535	2	1	253	1	0	0	0	0	0	0	0	1	11006	581	21	5		5	OR2L13	1	248263535	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	284853	248263535	987086	12	17682											
SOS1	6654	broad.mit.edu	37	2	39250170	39250170	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:39250170A>C	uc002rrk.4	-	9	1440	c.1399T>G	c.(1399-1401)Tta>Gta	p.L467V	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.L81V|SOS1_uc002rrl.3_Missense_Mutation_p.L199V	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	467	PH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CAAATCATTAAGCCATCAAAG	0.378									Noonan syndrome				C	39250170	A	C	39250170	3	2	253	1	0	0	0	0	1	0	0	0	14936	69	3	5	2658	5	SOS1	2	39250170	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08		39250170	203949203	13	17683											
TGFA	7039	broad.mit.edu	37	2	70742023	70742023	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:70742023T>C	uc002sgs.4	-	1	310	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	TGFA_uc010fdq.3_Missense_Mutation_p.Q27R|TGFA_uc010fdr.3_Missense_Mutation_p.Q27R|TGFA_uc002sgt.4_Missense_Mutation_p.Q21R|TGFA_uc002sgu.3_Missense_Mutation_p.Q21R|TGFA_uc002sgv.3_Missense_Mutation_p.Q21R|TGFA_uc002sgw.3_Missense_Mutation_p.Q21R	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	21					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CTCCAAGGCCTGGCACGCAGC	0.607													C	70742023	T	C	70742023	3	2	253	1	0	0	0	0	1	0	0	0	15812	1580	55	4	440	4	TGFA	2	70742023	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	31491853	70742023	172457350	14	17684											
ZNF638	27332	broad.mit.edu	37	2	71576267	71576267	+	Silent	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:71576267T>C	uc002shx.3	+	1	506	c.183T>C	c.(181-183)taT>taC	p.Y61Y	ZNF638_uc010fec.2_Silent_p.Y167Y|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Silent_p.Y61Y|ZNF638_uc002shz.3_Silent_p.Y61Y|ZNF638_uc002shy.3_Silent_p.Y61Y|ZNF638_uc002sia.3_Silent_p.Y61Y|ZNF638_uc002sib.1_Silent_p.Y61Y	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	61					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATGAATCTTATCAGAACATGG	0.448													C	71576267	T	C	71576267	2	2	253	1	0	0	0	0	0	0	0	1	18052	1442	50	4		4	ZNF638	2	71576267	Silent	SNP	T	TCGA-74-6575-01A-11D-1845-08	834244	71576267	171623106	15	17685											
TTC30A	92104	broad.mit.edu	37	2	178481798	178481798	+	Silent	SNP	G	G	A	rs150534803		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:178481798G>A	uc002ulo.3	-	0	1897	c.1632C>T	c.(1630-1632)tgC>tgT	p.C544C		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	544					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AATTCACAATGCAGAGATGGT	0.383													A	178481798	G	A	178481798	2	1	253	1	0	0	0	0	0	0	0	1	16695	1311	46	3		3	TTC30A	2	178481798	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	106905531	178481798	64717575	16	17686											
TTN	7273	broad.mit.edu	37	2	179417389	179417389	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179417389C>T	uc021vsy.1	-	283	82759	c.82534G>A	c.(82534-82536)Gct>Act	p.A27512T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A21207T|TTN_uc021vta.1_Missense_Mutation_p.A21140T|TTN_uc021vtb.1_Missense_Mutation_p.A21015T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28439	Fibronectin type-III 100.						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)			CTTATGCCAGCGTGGGACCAC	0.453													T	179417389	C	T	179417389	3	4	253	1	0	0	0	0	1	0	0	0	16732	768	27	1	17853	1	TTN	2	179417389	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	935591	179417389	63781984	17	17687											
TTN	7273	broad.mit.edu	37	2	179448529	179448529	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179448529C>T	uc021vsy.1	-	260	57901	c.57676G>A	c.(57676-57678)Gta>Ata	p.V19226I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V12921I|TTN_uc021vta.1_Missense_Mutation_p.V12854I|TTN_uc021vtb.1_Missense_Mutation_p.V12729I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20153	Fibronectin type-III 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R19226C(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)			CAAGCTTCTACGAAATAGCCA	0.463													T	179448529	C	T	179448529	3	4	253	1	0	0	0	0	1	0	0	0	16732	536	19	1	42803	1	TTN	2	179448529	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	31140	179448529	63750844	18	17688											
TTN	7273	broad.mit.edu	37	2	179515501	179515501	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179515501C>G	uc021vsy.1	-	162	32609	c.32384G>C	c.(32383-32385)aGa>aCa	p.R10795T	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11722	Glu-rich.|Pro-rich.						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)			AGACTCCGCTCTTTCTGGAAC	0.423													G	179515501	C	G	179515501	3	3	253	1	0	0	0	0	1	0	0	0	16732	913	32	5	68201	5	TTN	2	179515501	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	66972	179515501	63683872	19	17689											
UGT1A1	54657	broad.mit.edu	37	2	234628246	234628246	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:234628246C>T	uc002vuw.3	+						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Silent_p.D260D|UGT1A1_uc002vux.3_Silent_p.D260D	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.						bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCCGAGGGGACTTTGTGATGG	0.527													T	234628246	C	T	234628246	2	4	253	1	0	0	0	0	0	0	0	1	16941	564	20	3		3	UGT1A1	2	234628246	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	55112745	234628246	8571127	20	17690											
TATDN2	9797	broad.mit.edu	37	3	10302000	10302000	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:10302000G>A	uc011atr.2	+	2	1175	c.594G>A	c.(592-594)tcG>tcA	p.S198S	TATDN2_uc003bvg.2_Silent_p.S198S|TATDN2_uc003bvf.3_Silent_p.S198S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	198						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGGGGAAATCGATGCCAAAAA	0.557													A	10302000	G	A	10302000	2	1	253	1	0	0	0	0	0	0	0	1	15589	1045	37	2		2	TATDN2	3	10302000	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		10302000	187720430	21	17691											
BSN	8927	broad.mit.edu	37	3	49694511	49694511	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:49694511G>A	uc003cxe.4	+	4	7636	c.7522G>A	c.(7522-7524)Gca>Aca	p.A2508T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2508					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTTACACATGCAGCCTTCAT	0.642													A	49694511	G	A	49694511	3	1	253	1	0	0	0	0	1	0	0	0	1530	1319	46	3	7540	3	BSN	3	49694511	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	39392511	49694511	148327919	22	17692											
RBM6	10180	broad.mit.edu	37	3	50099537	50099537	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:50099537C>T	uc003cyc.3	+	14	2830	c.2582C>T	c.(2581-2583)aCg>aTg	p.T861M	RBM6_uc010hlc.2_Missense_Mutation_p.T380M|RBM6_uc003cyd.3_Missense_Mutation_p.T339M|RBM6_uc011bdi.2_Missense_Mutation_p.T203M|RBM6_uc003cye.3_Missense_Mutation_p.T339M|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	861					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			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)		AGAGGAGTGACGAGGGTAAGA	0.378													T	50099537	C	T	50099537	3	4	253	1	0	0	0	0	1	0	0	0	13144	536	19	1	2636	1	RBM6	3	50099537	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	405026	50099537	147922893	23	17693											
RBM15B	29890	broad.mit.edu	37	3	51429849	51429850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:51429849_51429850insA	uc003dbd.3	+	0	1151_1152	c.1019_1020insA	c.(1018-1020)ttcfs	p.F340fs		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	340	RRM 2.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCAACCTCTTCATTGGTAACC	0.609													A	51429850	-	A	51429849	7	5	253	1	0	1	1	0	0	0	0	0	13117	1783	62	0	1021	0	RBM15B	3	51429849	Frame_Shift_Ins	INS	-	TCGA-74-6575-01A-11D-1845-08	1330312	51429849	146592581	24	17694											
CADPS	8618	broad.mit.edu	37	3	62467450	62467450	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:62467450G>T	uc003dll.2	-	21	3481	c.3121C>A	c.(3121-3123)Caa>Aaa	p.Q1041K	CADPS_uc003dlj.1_5'UTR|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron|CADPS_uc021wzv.1_Intron	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1041	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTAGGCATTTGTGGGATGCCT	0.423													T	62467450	G	T	62467450	3	4	253	1	0	0	0	0	1	0	0	0	2570	1386	48	5	976	5	CADPS	3	62467450	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	11037601	62467450	135554980	25	17695											
ROBO2	6092	broad.mit.edu	37	3	77671470	77671470	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:77671470T>C	uc011bgk.2	+	23	4302	c.3659T>C	c.(3658-3660)gTt>gCt	p.V1220A	ROBO2_uc021xat.1_Missense_Mutation_p.V1232A|ROBO2_uc003dpy.4_Missense_Mutation_p.V1216A|ROBO2_uc003dpz.3_Missense_Mutation_p.V1220A|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1216					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAAACGGATGTTGCAGATGAT	0.488													C	77671470	T	C	77671470	3	2	253	1	0	0	0	0	1	0	0	0	13514	1725	60	4	3739	4	ROBO2	3	77671470	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	15204020	77671470	120350960	26	17696											
MORC1	27136	broad.mit.edu	37	3	108724078	108724078	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:108724078G>A	uc003dxl.3	-	18	1939	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C	MORC1_uc011bhn.2_Missense_Mutation_p.R597C	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	618					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTCCTCTACGGCTCGCTGAA	0.363													A	108724078	G	A	108724078	3	1	253	1	0	0	0	0	1	0	0	0	9701	1116	39	2	1142	2	MORC1	3	108724078	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	31052608	108724078	89298352	27	17697											
ECT2	1894	broad.mit.edu	37	3	172501613	172501613	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:172501613C>G	uc003fii.2	+	14	1687	c.1549C>G	c.(1549-1551)Cct>Gct	p.P517A	ECT2_uc010hwv.1_Missense_Mutation_p.P548A|ECT2_uc003fih.2_Missense_Mutation_p.P516A|ECT2_uc003fij.1_Missense_Mutation_p.P517A|ECT2_uc003fik.1_Missense_Mutation_p.P517A|ECT2_uc003fil.1_Missense_Mutation_p.P548A	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	517	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAACCTACCCTCCCTTTGT	0.308													G	172501613	C	G	172501613	3	3	253	1	0	0	0	0	1	0	0	0	4901	623	22	5	1603	5	ECT2	3	172501613	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	63777535	172501613	25520817	28	17698											
TP63	8626	broad.mit.edu	37	3	189582022	189582022	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:189582022A>C	uc003fry.2	+	5	669	c.580_splice	c.e5-1	p.Y194_splice	TP63_uc003frx.2_Splice_Site_p.Y194_splice|TP63_uc003frz.2_Splice_Site_p.Y194_splice|TP63_uc010hzc.1_Splice_Site_p.Y194_splice|TP63_uc003fsa.2_Splice_Site_p.Y100_splice|TP63_uc003fsb.2_Splice_Site_p.Y100_splice|TP63_uc003fsc.2_Splice_Site_p.Y100_splice|TP63_uc003fsd.2_Splice_Site_p.Y100_splice|TP63_uc021xir.1_Splice_Site_p.Y100_splice|TP63_uc010hzd.1_Splice_Site_p.Y15_splice|TP63_uc003fse.1_Splice_Site_p.Y75_splice	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	194					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTAAGCAGTATTCCACTGAA	0.463										HNSCC(45;0.13)			C	189582022	A	C	189582022	3	2	253	1	0	0	0	0	1	0	0	0	16389	463	16	5	645	5	TP63	3	189582022	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	17080409	189582022	8440408	29	17699											
CPN2	1370	broad.mit.edu	37	3	194062052	194062052	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:194062052G>A	uc003fts.3	-	1	1470	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	CPN2_uc021xix.1_Silent_p.D460D	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	460					protein stabilization	extracellular region	enzyme regulator activity	p.P459P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCTTGCTTTCGTCCGGCCACG	0.657													A	194062052	G	A	194062052	2	1	253	1	0	0	0	0	0	0	0	1	3810	1136	40	1		1	CPN2	3	194062052	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	4480030	194062052	3960378	30	17700											
ATP13A3	79572	broad.mit.edu	37	3	194165469	194165469	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:194165469C>T	uc003fty.4	-	13	1946	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	ATP13A3_uc003ftz.1_Missense_Mutation_p.R221Q	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	515					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATTTTCCACTCGTTGAATCCC	0.308													T	194165469	C	T	194165469	3	4	253	1	0	0	0	0	1	0	0	0	1125	884	31	2	2212	2	ATP13A3	3	194165469	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	103417	194165469	3856961	31	17701											
FRAS1	80144	broad.mit.edu	37	4	79236806	79236806	+	Silent	SNP	T	T	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:79236806T>G	uc003hlb.2	+	15	2177	c.1737T>G	c.(1735-1737)acT>acG	p.T579T	FRAS1_uc003hkw.3_Silent_p.T579T|FRAS1_uc003hky.1_Silent_p.T283T|FRAS1_uc003hkz.3_Silent_p.T283T|FRAS1_uc003hla.1_Silent_p.T90T	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	579					cell communication	integral to membrane|plasma membrane	metal ion binding			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						TTACCTGTACTGAGAAGACAG	0.517													G	79236806	T	G	79236806	2	3	253	1	0	0	0	0	0	0	0	1	6042	1567	55	5		5	FRAS1	4	79236806	Silent	SNP	T	TCGA-74-6575-01A-11D-1845-08		79236806	111917470	32	17702											
FRAS1	80144	broad.mit.edu	37	4	79400786	79400786	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:79400786C>T	uc003hlb.2	+	55	8797	c.8357C>T	c.(8356-8358)gCg>gTg	p.A2786V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2781	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			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						GGAAGGGTGGCGACAGCCAAG	0.522													T	79400786	C	T	79400786	3	4	253	1	0	0	0	0	1	0	0	0	6042	768	27	1	8654	1	FRAS1	4	79400786	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	163980	79400786	111753490	33	17703											
FHDC1	85462	broad.mit.edu	37	4	153881743	153881743	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:153881743C>T	uc003inf.2	+	3	765	c.690C>T	c.(688-690)ggC>ggT	p.G230G		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	230	FH2.				actin cytoskeleton organization		actin binding	p.G230G(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGTTTAGTGGCGACGTGTCGA	0.373													T	153881743	C	T	153881743	2	4	253	1	0	0	0	0	0	0	0	1	5876	755	27	1		1	FHDC1	4	153881743	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	74480957	153881743	37272533	34	17704											
TLR3	7098	broad.mit.edu	37	4	187003807	187003807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:187003807delA	uc003iyq.3	+	3	1068	c.967delA	c.(967-969)aatfs	p.N323fs	TLR3_uc011ckz.2_Frame_Shift_Del_p.N46fs|TLR3_uc003iyr.3_Frame_Shift_Del_p.N46fs	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	323					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CGGGCTTTTCAATGTGAGGTA	0.368													-	187003807	A	-	187003807	7	5	253	1	0	1	0	1	0	0	0	0	15949	130	5	0	977	0	TLR3	4	187003807	Frame_Shift_Del	DEL	A	TCGA-74-6575-01A-11D-1845-08	33122064	187003807	4150469	35	17705											
PRDM9	56979	broad.mit.edu	37	5	23526688	23526688	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:23526688G>C	uc003jgo.3	+	10	1673	c.1491G>C	c.(1489-1491)gaG>gaC	p.E497D		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	497					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						TGGAAGAAGAGTCCAGAACAG	0.453										HNSCC(3;0.000094)			C	23526688	G	C	23526688	3	2	253	1	0	0	0	0	1	0	0	0	12463	1020	36	5	1529	5	PRDM9	5	23526688	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		23526688	157388572	36	17706											
PRDM9	56979	broad.mit.edu	37	5	23526750	23526750	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:23526750T>A	uc003jgo.3	+	10	1735	c.1553T>A	c.(1552-1554)aTc>aAc	p.I518N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	518					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						GGGGTAGGAATCTCAAGAATT	0.433										HNSCC(3;0.000094)			A	23526750	T	A	23526750	3	1	253	1	0	0	0	0	1	0	0	0	12463	1435	50	5	1591	5	PRDM9	5	23526750	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	62	23526750	157388510	37	17707											
SPEF2	79925	broad.mit.edu	37	5	35740247	35740247	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:35740247T>A	uc003jjo.3	+	22	3319	c.3208T>A	c.(3208-3210)Ttt>Att	p.F1070I	SPEF2_uc003jjp.1_Missense_Mutation_p.F556I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1070					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			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)			TTTCCAGGAGTTTCTAAAGCG	0.388													A	35740247	T	A	35740247	3	1	253	1	0	0	0	0	1	0	0	0	15034	1725	60	5	3319	5	SPEF2	5	35740247	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	12213497	35740247	145175013	38	17708											
UGT3A1	133688	broad.mit.edu	37	5	35988627	35988627	+	Missense_Mutation	SNP	G	G	A	rs150814543	by1000genomes	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:35988627G>A	uc003jjv.2	-	1	314	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R41W|UGT3A1_uc011cor.2_Intron|UGT3A1_uc003jjy.2_5'UTR	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	41						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGACACCCGGTCCAACAGT	0.378													A	35988627	G	A	35988627	3	1	253	1	0	0	0	0	1	0	0	0	16960	1115	39	2	1556	2	UGT3A1	5	35988627	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	248380	35988627	144926633	39	17709											
SLC1A3	6507	broad.mit.edu	37	5	36677194	36677194	+	Silent	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:36677194G>C	uc003jkj.4	+	5	1244	c.768G>C	c.(766-768)gtG>gtC	p.V256V	SLC1A3_uc011cox.2_Silent_p.V149V|SLC1A3_uc010iuy.3_Silent_p.V256V	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	256					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			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)	TCGGTTTTGTGATTGGAAACA	0.473													C	36677194	G	C	36677194	2	2	253	1	0	0	0	0	0	0	0	1	14433	1277	45	5		5	SLC1A3	5	36677194	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	688567	36677194	144238066	40	17710											
PIK3R1	5295	broad.mit.edu	37	5	67591259	67591261	+	In_Frame_Del	DEL	AAA	AAA	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:67591259_67591261delAAA	uc003jva.3	+	13	2337_2339	c.1757_1759delAAA	c.(1756-1761)caaaaa>caa	p.K587del	PIK3R1_uc003jvc.3_In_Frame_Del_p.K287del|PIK3R1_uc003jvd.3_In_Frame_Del_p.K317del|PIK3R1_uc003jve.3_In_Frame_Del_p.K266del|PIK3R1_uc021xzn.1_In_Frame_Del_p.K224del|PIK3R1_uc011crb.2_In_Frame_Del_p.K257del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	587					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(8)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TGGTTGACTCAAAAAGGTGTTCG	0.355			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591261	AAA	-	67591259	7	5	253	1	0	1	0	1	0	0	0	0	11918	130	5	0	1937	0	PIK3R1	5	67591259	In_Frame_Del	DEL	AAA	TCGA-74-6575-01A-11D-1845-08	30914065	67591259	113324001	41	17711											
PIK3R1	5295	broad.mit.edu	37	5	67593227	67593245	+	Splice_Site	DEL	CTCTCCTCTCTAGGGTGGA	CTCTCCTCTCTAGGGTGGA	-	rs143771559	by1000genomes	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:67593227_67593245delCTCTCCTCTCTAGGGTGGA	uc003jva.3	+	16	2566	c.1986_splice	c.e16-1	p.V662_splice	PIK3R1_uc003jvc.3_Splice_Site_p.V362_splice|PIK3R1_uc003jvd.3_Splice_Site_p.V392_splice|PIK3R1_uc003jve.3_Splice_Site_p.V341_splice|PIK3R1_uc021xzn.1_Splice_Site_p.V299_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	662	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGTTTTTCTTCTCTCCTCTCTAGGGTGGACGGCGAAGTA	0.429			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67593245	CTCTCCTCTCTAGGGTGGA	-	67593227	8	5	253	1	0	1	0	1	0	0	1	0	11918	928	32	0		0	PIK3R1	5	67593227	Splice_Site	DEL	CTCTCCTCTCTAGGGTGGA	TCGA-74-6575-01A-11D-1845-08	1968	67593227	113322033	42	17712											
MCTP1	79772	broad.mit.edu	37	5	94044306	94044306	+	Nonsense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:94044306T>A	uc003kkx.2	-	21	2839	c.2839A>T	c.(2839-2841)Aaa>Taa	p.K947*	MCTP1_uc003kkv.2_Nonsense_Mutation_p.K726*|MCTP1_uc003kkw.2_Nonsense_Mutation_p.K640*|MCTP1_uc003kku.2_Nonsense_Mutation_p.K463*	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	947					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTTGTAAATTTATTGATGCCT	0.353													A	94044306	T	A	94044306	4	1	253	1	0	0	0	0	0	1	0	0	9400	1763	61	5	168	5	MCTP1	5	94044306	Nonsense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	26451079	94044306	86870954	43	17713											
CHD1	1105	broad.mit.edu	37	5	98192335	98192335	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:98192335G>A	uc003knf.3	-	34	5030	c.4882C>T	c.(4882-4884)Cat>Tat	p.H1628Y	CHD1_uc010jbn.3_Missense_Mutation_p.H354Y	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1628	3 X 5 AA repeats of H-S-D-H-R.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGATCAGAATGAGATCTATCT	0.383													A	98192335	G	A	98192335	3	1	253	1	0	0	0	0	1	0	0	0	3323	1290	45	3	254	3	CHD1	5	98192335	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	4148029	98192335	82722925	44	17714											
PCDHAC2	56139	broad.mit.edu	37	5	140235776	140235776	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140235776C>T	uc003lhx.2	+	0	143	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A48V|PCDHAC2_uc011dad.2_Missense_Mutation_p.A48V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGCATCGCGCAGGACCTG	0.652													T	140235776	C	T	140235776	3	4	253	1	0	0	0	0	1	0	0	0	11533	768	27	1		1	PCDHAC2	5	140235776	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	42043441	140235776	40679484	45	17715											
PCDHAC2	56135	broad.mit.edu	37	5	140307515	140307515	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140307515G>A	uc003lih.2	+	0	1214	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.S346S	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	371	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S346S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCTTTCGAACCCAGTAC	0.517													A	140307515	G	A	140307515	2	1	253	1	0	0	0	0	0	0	0	1	11533	1045	37	2		2	PCDHAC2	5	140307515	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	71739	140307515	40607745	46	17716											
PCDHGC5	56101	broad.mit.edu	37	5	140778096	140778096	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140778096G>A	uc003lkf.2	+	0	402	c.402G>A	c.(400-402)acG>acA	p.T134T	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_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.T134T	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	134	Cadherin 2.				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)			CAAAATTCACGCAAAATTCCT	0.423													A	140778096	G	A	140778096	2	1	253	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHGC5	5	140778096	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	470581	140778096	40137164	47	17717											
GABRA6	2559	broad.mit.edu	37	5	161128666	161128666	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:161128666A>G	uc003lyu.2	+	8	1587	c.1249A>G	c.(1249-1251)Ata>Gta	p.I417V	GABRA6_uc003lyv.2_Missense_Mutation_p.I188V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACCAGTAAAATAGACCAGTA	0.468										TCGA Ovarian(5;0.080)			G	161128666	A	G	161128666	3	3	253	1	0	0	0	0	1	0	0	0	6165	101	4	4	1283	4	GABRA6	5	161128666	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	20350570	161128666	19786594	48	17718											
DSP	1832	broad.mit.edu	37	6	7584328	7584328	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr6:7584328T>C	uc003mxp.1	+	23	7112	c.6833T>C	c.(6832-6834)aTg>aCg	p.M2278T	DSP_uc003mxq.1_Missense_Mutation_p.M1679T|DSP_uc021yle.1_Missense_Mutation_p.M1835T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2278	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATGAGGCCATGAAAATTGGC	0.473													C	7584328	T	C	7584328	3	2	253	1	0	0	0	0	1	0	0	0	4781	1464	51	4	6927	4	DSP	6	7584328	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08		7584328	163530739	49	17719											
DNAH11	8701	broad.mit.edu	37	7	21609750	21609750	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:21609750G>T	uc003svc.3	+	6	1289	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	420	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTGGAAAAGGTGCAGGTGGC	0.383									Kartagener syndrome				T	21609750	G	T	21609750	3	4	253	1	0	0	0	0	1	0	0	0	4599	1261	44	5	1284	5	DNAH11	7	21609750	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		21609750	137528913	50	17720											
NPC1L1	29881	broad.mit.edu	37	7	44578753	44578753	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:44578753G>T	uc003tlb.3	-	1	1299	c.1243C>A	c.(1243-1245)Cct>Act	p.P415T	NPC1L1_uc011kbw.2_Missense_Mutation_p.P415T|NPC1L1_uc003tlc.3_Missense_Mutation_p.P415T|NPC1L1_uc003tld.3_Missense_Mutation_p.P415T	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	415					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACCGGTTAGGAGCCGTCAGG	0.592													T	44578753	G	T	44578753	3	4	253	1	0	0	0	0	1	0	0	0	10571	1174	41	5	2912	5	NPC1L1	7	44578753	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	22969003	44578753	114559910	51	17721											
LANCL2	55915	broad.mit.edu	37	7	55467774	55467774	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:55467774G>A	uc003tqp.3	+	3	1233	c.655G>A	c.(655-657)Gtg>Atg	p.V219M		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	219					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	p.V219M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TCCAGGCACCGTGTGTGAGTC	0.458													A	55467774	G	A	55467774	3	1	253	1	0	0	0	0	1	0	0	0	8621	1145	40	1	669	1	LANCL2	7	55467774	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	10889021	55467774	103670889	52	17722											
SEMA3C	10512	broad.mit.edu	37	7	80374224	80374224	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:80374224A>G	uc011kgw.2	-	17	2375	c.2296T>C	c.(2296-2298)Ttg>Ctg	p.L766L	SEMA3C_uc003uhj.3_Silent_p.L748L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	748					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACTCTGGCAACTGATTCCTC	0.393													G	80374224	A	G	80374224	2	3	253	1	0	0	0	0	0	0	0	1	14026	40	2	4		4	SEMA3C	7	80374224	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	24906450	80374224	78764439	53	17723											
KIAA1324L	222223	broad.mit.edu	37	7	86521207	86521207	+	Splice_Site	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:86521207T>A	uc011kha.2	-	21	3050	c.2865_splice	c.e21-1	p.K955_splice	KIAA1324L_uc003uie.3_Splice_Site_p.K788_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.K841_splice|KIAA1324L_uc003uif.2_Splice_Site_p.K707_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	955						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATTCCAGTCTAAATAGTGAT	0.303													A	86521207	T	A	86521207	5	1	253	1	0	0	0	0	0	0	1	0	8224	1536	53	5	234	5	KIAA1324L	7	86521207	Splice_Site	SNP	T	TCGA-74-6575-01A-11D-1845-08	6146983	86521207	72617456	54	17724											
COL1A2	1278	broad.mit.edu	37	7	94042435	94042435	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:94042435T>A	uc003ung.1	+	25	2015	c.1544T>A	c.(1543-1545)cTt>cAt	p.L515H	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	515					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CATGCTGGTCTTGCTGGTGCT	0.368										HNSCC(75;0.22)			A	94042435	T	A	94042435	3	1	253	1	0	0	0	0	1	0	0	0	3678	1609	56	5	1646	5	COL1A2	7	94042435	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	7521228	94042435	65096228	55	17725											
WNT2	7472	broad.mit.edu	37	7	116955387	116955387	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:116955387G>T	uc003viz.3	-	2	626	c.326C>A	c.(325-327)gCc>gAc	p.A109D	WNT2_uc003vja.3_Intron	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	109					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ATAAACAAAGGCAGATTCCCG	0.403													T	116955387	G	T	116955387	3	4	253	1	0	0	0	0	1	0	0	0	17383	1203	42	5	768	5	WNT2	7	116955387	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	22912952	116955387	42183276	56	17726											
HYAL4	23553	broad.mit.edu	37	7	123508674	123508674	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:123508674T>C	uc003vlc.3	+	2	985	c.347T>C	c.(346-348)aTa>aCa	p.I116T	HYAL4_uc011knz.2_Missense_Mutation_p.I116T	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	116					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCACAGAACATAAGTTTACAA	0.393													C	123508674	T	C	123508674	3	2	253	1	0	0	0	0	1	0	0	0	7466	1406	49	4	349	4	HYAL4	7	123508674	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	6553287	123508674	35629989	57	17727											
PLXNA4	91584	broad.mit.edu	37	7	131865369	131865369	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:131865369G>A	uc003vra.4	-	18	3844	c.3615C>T	c.(3613-3615)aaC>aaT	p.N1205N		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1205	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCCGATGAGGTTGGGGGACT	0.602													A	131865369	G	A	131865369	2	1	253	1	0	0	0	0	0	0	0	1	12122	1252	44	3		3	PLXNA4	7	131865369	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	8356695	131865369	27273294	58	17728											
PLAT	5327	broad.mit.edu	37	8	42036566	42036566	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:42036566G>A	uc003xos.2	-	12	1588	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	PLAT_uc010lxf.1_Missense_Mutation_p.S377L|PLAT_uc010lxg.1_Missense_Mutation_p.S285L|PLAT_uc003xot.2_Missense_Mutation_p.S414L|PLAT_uc011lcm.1_Missense_Mutation_p.S371L|PLAT_uc011lcn.1_Missense_Mutation_p.S334L	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	460	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAGCCGCTCCGAATAGAAAGG	0.423													A	42036566	G	A	42036566	3	1	253	1	0	0	0	0	1	0	0	0	12021	1059	37	2	317	2	PLAT	8	42036566	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		42036566	104327456	59	17729											
RP1	6101	broad.mit.edu	37	8	55533600	55533600	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:55533600G>A	uc003xsd.1	+	1	222	c.74G>A	c.(73-75)cGc>cAc	p.R25H	RP1_uc011ldy.1_Missense_Mutation_p.R25H	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	25					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			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)			CCACCCCCTCGCCATTTGAGC	0.517													A	55533600	G	A	55533600	3	1	253	1	0	0	0	0	1	0	0	0	13532	1087	38	1	76	1	RP1	8	55533600	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	13497034	55533600	90830422	60	17730											
NCOA2	10499	broad.mit.edu	37	8	71057034	71057034	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:71057034C>G	uc003xyn.1	-	12	2817	c.2655G>C	c.(2653-2655)caG>caC	p.Q885H	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	885					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGGTAAATTCTGGTTTGGCA	0.423			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								G	71057034	C	G	71057034	3	3	253	1	0	0	0	0	1	0	0	0	10229	912	32	5	1783	5	NCOA2	8	71057034	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	15523434	71057034	75306988	61	17731											
TTC39B	158219	broad.mit.edu	37	9	15214139	15214139	+	Silent	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:15214139G>C	uc003zlr.2	-	3	517	c.480C>G	c.(478-480)ccC>ccG	p.P160P	TTC39B_uc003zlq.2_Silent_p.P63P|TTC39B_uc011lmp.2_5'UTR|TTC39B_uc010mie.2_Silent_p.P160P|TTC39B_uc011lmr.2_Intron|TTC39B_uc011lmq.2_Silent_p.P160P|TTC39B_uc010mif.2_Silent_p.P160P|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Silent_p.P63P|TTC39B_uc011lms.2_Non-coding_Transcript	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	94							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TAAATTACCAGGGGCGAAGCA	0.373													C	15214139	G	C	15214139	2	2	253	1	0	0	0	0	0	0	0	1	16705	987	35	5		5	TTC39B	9	15214139	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		15214139	125999292	62	17732											
PTPN3	5774	broad.mit.edu	37	9	112200417	112200417	+	Silent	SNP	G	G	A	rs148263399		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:112200417G>A	uc004bed.2	-	7	676	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PTPN3_uc004beb.2_Silent_p.V57V|PTPN3_uc004bec.2_Silent_p.V57V|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.V188V|PTPN3_uc011lwh.1_Silent_p.V79V	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	188	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCAGAGATTCGACTTTTGTTA	0.438													A	112200417	G	A	112200417	2	1	253	1	0	0	0	0	0	0	0	1	12789	1045	37	2		2	PTPN3	9	112200417	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	96986278	112200417	29013014	63	17733											
CRAT	1384	broad.mit.edu	37	9	131864744	131864744	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:131864744T>C	uc004bxh.3	-	4	847	c.565A>G	c.(565-567)Aca>Gca	p.T189A	CRAT_uc004bxk.4_Missense_Mutation_p.T168A	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTGCTGACTGTGTCCTGCTTG	0.617													C	131864744	T	C	131864744	3	2	253	1	0	0	0	0	1	0	0	0	3847	1696	59	4	1355	4	CRAT	9	131864744	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	19664327	131864744	9348687	64	17734											
POMT1	10585	broad.mit.edu	37	9	134394274	134394274	+	Silent	SNP	C	C	T	rs139687326	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:134394274C>T	uc004cav.3	+	14	1684	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	POMT1_uc004cax.3_Silent_p.V472V|POMT1_uc011mcj.2_Silent_p.V250V|POMT1_uc004cau.3_Silent_p.V472V|POMT1_uc004caw.3_Silent_p.V418V|POMT1_uc011mck.2_Silent_p.V355V|POMT1_uc011mcl.2_Silent_p.V320V|POMT1_uc011mcm.2_Silent_p.V442V	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	494	MIR 3.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGGAGATCGTCGGGGAGAAGC	0.677													T	134394274	C	T	134394274	2	4	253	1	0	0	0	0	0	0	0	1	12245	871	31	2		2	POMT1	9	134394274	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	2529530	134394274	6819157	65	17735											
COL5A1	1289	broad.mit.edu	37	9	137704532	137704532	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:137704532G>A	uc004cfe.3	+	47	4208	c.3826G>A	c.(3826-3828)Gga>Aga	p.G1276R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1276	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGGAATAGGAAACCCTGG	0.627													A	137704532	G	A	137704532	3	1	253	1	0	0	0	0	1	0	0	0	3696	1001	35	3	4016	3	COL5A1	9	137704532	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	3310258	137704532	3508899	66	17736											
LCN6	158062	broad.mit.edu	37	9	139639655	139639655	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:139639655C>T	uc004ciy.2	-	3	424	c.379G>A	c.(379-381)Ggg>Agg	p.G127R	LCN10_uc004civ.3_5'Flank|LCN10_uc010nbq.3_5'Flank|LCN10_uc011mee.2_5'Flank|LCN10_uc011mef.2_5'Flank|LCN10_uc011med.2_5'Flank|LCN10_uc004ciw.3_Non-coding_Transcript|LOC100128593_uc004ciz.1_5'Flank	NM_198946	NP_945184	P62502	LCN6_HUMAN	Homo sapiens lipocalin 6 (LCN6), mRNA.	127					single fertilization	extracellular region	binding			lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGCTCGTCCCCGAACTCCAGC	0.607													T	139639655	C	T	139639655	3	4	253	1	0	0	0	0	1	0	0	0	8685	652	23	2	120	2	LCN6	9	139639655	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	1935123	139639655	1573776	67	17737											
C11orf35	256329	broad.mit.edu	37	11	556905	556905	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:556905C>T	uc001lpx.3	-	7	969	c.906G>A	c.(904-906)ccG>ccA	p.P302P	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	302										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCCCGGGGCGGGTGCCCTA	0.697													T	556905	C	T	556905	2	4	253	1	0	0	0	0	0	0	0	1	1638	755	27	1		1	C11orf35	11	556905	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08		556905	134449611	68	17738											
MUC5B	727897	broad.mit.edu	37	11	1156628	1156628	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:1156628C>T	uc021qbr.1	+	5	692	c.645C>T	c.(643-645)aaC>aaT	p.N215N				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	211	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P214Q(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACTTCAACGGGATGCCCG	0.617													T	1156628	C	T	1156628	2	4	253	1	0	0	0	0	0	0	0	1	9979	551	19	1		1	MUC5B	11	1156628	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	599723	1156628	133849888	69	17739											
SERPING1	710	broad.mit.edu	37	11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:57365774_57365776delCTG	uc001nkp.1	+	1	222_224	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_uc010rju.1_Intron|SERPING1_uc010rjv.1_In_Frame_Del_p.L15del|SERPING1_uc001nkr.1_In_Frame_Del_p.L15del|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	15					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714													-	57365776	CTG	-	57365774	7	5	253	1	0	1	0	1	0	0	0	0	14116	680	24	0	33	0	SERPING1	11	57365774	In_Frame_Del	DEL	CTG	TCGA-74-6575-01A-11D-1845-08	56209146	57365774	77640742	70	17740											
C11orf2	738	broad.mit.edu	37	11	64876819	64876819	+	Missense_Mutation	SNP	C	C	T	rs140677028		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:64876819C>T	uc001ocr.1	+	5	1551	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.T380M	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	504					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						ATGTGCCAGACGGCTCAGAGC	0.647													T	64876819	C	T	64876819	3	4	253	1	0	0	0	0	1	0	0	0	1633	536	19	1	1533	1	C11orf2	11	64876819	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	7511045	64876819	70129697	71	17741											
DYNC2H1	79659	broad.mit.edu	37	11	102988581	102988581	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:102988581C>T	uc001phn.1	+	5	1132	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	DYNC2H1_uc009yxe.1_Missense_Mutation_p.R330C|DYNC2H1_uc001pho.2_Missense_Mutation_p.R330C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	330	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTTGGCAAACGCCTTGAAGA	0.333													T	102988581	C	T	102988581	3	4	253	1	0	0	0	0	1	0	0	0	4846	536	19	1	1010	1	DYNC2H1	11	102988581	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	38111762	102988581	32017935	72	17742											
TECTA	7007	broad.mit.edu	37	11	120998519	120998519	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:120998519C>T	uc010rzo.2	+	7	1833	c.1833C>T	c.(1831-1833)ccC>ccT	p.P611P		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	611	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCAGCTGCCCCGACACATGCT	0.637													T	120998519	C	T	120998519	2	4	253	1	0	0	0	0	0	0	0	1	15744	639	23	2		2	TECTA	11	120998519	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	18009938	120998519	14007997	73	17743											
TECTA	7007	broad.mit.edu	37	11	121031074	121031074	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:121031074G>A	uc010rzo.2	+	13	4920	c.4920G>A	c.(4918-4920)ccG>ccA	p.P1640P		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1640	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGGAAGCCGGTGGTAAGCA	0.542													A	121031074	G	A	121031074	2	1	253	1	0	0	0	0	0	0	0	1	15744	1103	39	2		2	TECTA	11	121031074	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	32555	121031074	13975442	74	17744											
TAS2R10	50839	broad.mit.edu	37	12	10978396	10978396	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:10978396T>C	uc001qyy.1	-	0	473	c.473A>G	c.(472-474)aAt>aGt	p.N158S		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	158					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GACTGTGTCATTCTTCGTTTT	0.299													C	10978396	T	C	10978396	3	2	253	1	0	0	0	0	1	0	0	0	15563	1493	52	4	454	4	TAS2R10	12	10978396	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08		10978396	122873499	75	17745											
GRIN2B	2904	broad.mit.edu	37	12	13720091	13720091	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:13720091G>C	uc001rbt.2	-	11	2645	c.2466C>G	c.(2464-2466)ttC>ttG	p.F822L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	822					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAACATGTAGAAGACCCCTG	0.507													C	13720091	G	C	13720091	3	2	253	1	0	0	0	0	1	0	0	0	6780	933	33	5	1996	5	GRIN2B	12	13720091	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	2741695	13720091	120131804	76	17746											
MTERFD3	80298	broad.mit.edu	37	12	107371558	107371559	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:107371558_107371559insAT	uc001tme.1	-	1	2753_2754	c.934_935insAT	c.(934-936)tccfs	p.S312fs	MTERFD3_uc001tmf.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc001tmg.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc021rdh.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc001tmh.1_Frame_Shift_Ins_p.S312fs	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGAGCTATGGAAATTCCTTCT	0.371													AT	107371559	-	AT	107371558	7	5	253	1	0	1	1	0	0	0	0	0	9921	1174	41	0	226	0	MTERFD3	12	107371558	Frame_Shift_Ins	INS	-	TCGA-74-6575-01A-11D-1845-08	93651467	107371558	26480337	77	17747											
PTPN11	5781	broad.mit.edu	37	12	112888189	112888189	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:112888189G>A	uc001ttx.3	+	2	585	c.205G>A	c.(205-207)Gag>Aag	p.E69K	PTPN11_uc001ttw.1_Missense_Mutation_p.E69K	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	69	SH2 1.		E -> K (in JMML; also in myelodysplastic syndrome).|E -> Q (in NS1).		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.E69K(33)|p.E69V(1)|p.E69G(1)|p.E69D(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						GTATGGAGGGGAGAAATTTGC	0.428			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				A	112888189	G	A	112888189	3	1	253	1	0	0	0	0	1	0	0	0	12780	1175	41	3	215	3	PTPN11	12	112888189	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	5516631	112888189	20963706	78	17748											
KSR2	283455	broad.mit.edu	37	12	117993006	117993006	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:117993006G>C	uc001two.2	-	8	1454	c.1399C>G	c.(1399-1401)Cag>Gag	p.Q467E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	496					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGAGCGTCTGACTGATGTGC	0.577													C	117993006	G	C	117993006	3	2	253	1	0	0	0	0	1	0	0	0	8582	1299	45	5	1414	5	KSR2	12	117993006	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	5104817	117993006	15858889	79	17749											
GOLGA3	2802	broad.mit.edu	37	12	133373156	133373156	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:133373156G>A	uc001ukz.1	-	9	2628	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S690L|GOLGA3_uc001ulb.3_Missense_Mutation_p.S690L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	690	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGATGCCGCCGAGTCCGCCAT	0.622													A	133373156	G	A	133373156	3	1	253	1	0	0	0	0	1	0	0	0	6554	1059	37	2	2625	2	GOLGA3	12	133373156	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	15380150	133373156	478739	80	17750											
TUBA3C	7278	broad.mit.edu	37	13	19751438	19751438	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr13:19751438G>A	uc009zzj.3	-	3	790	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	229					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R229>?(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCAATCAGGCGATTGAGGTTG	0.547													A	19751438	G	A	19751438	3	1	253	1	0	0	0	0	1	0	0	0	16743	1058	37	2	675	2	TUBA3C	13	19751438	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		19751438	95418440	81	17751											
PAN3	255967	broad.mit.edu	37	13	28794483	28794483	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr13:28794483T>C	uc001urz.3	+	5	1120	c.968T>C	c.(967-969)aTg>aCg	p.M323T	PAN3_uc010tdo.1_Missense_Mutation_p.M323T|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.M123T	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	323	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CACCCATCCATGGGAAGCCCT	0.448													C	28794483	T	C	28794483	3	2	253	1	0	0	0	0	1	0	0	0	11415	1464	51	4	990	4	PAN3	13	28794483	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	9043045	28794483	86375395	82	17752											
OR4M1	441670	broad.mit.edu	37	14	20248896	20248896	+	Missense_Mutation	SNP	C	C	T	rs148303756	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:20248896C>T	uc010tku.2	+	0	415	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATGAATCGACGTCTCTGCTG	0.517													T	20248896	C	T	20248896	3	4	253	1	0	0	0	0	1	0	0	0	11075	536	19	1	417	1	OR4M1	14	20248896	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08		20248896	87100644	83	17753											
NRXN3	9369	broad.mit.edu	37	14	79432392	79432392	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:79432392G>A	uc001xun.3	+	8	1792	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R559H	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACCATACCCGTTTGGAGTTC	0.428													A	79432392	G	A	79432392	3	1	253	1	0	0	0	0	1	0	0	0	10667	1145	40	1	1327	1	NRXN3	14	79432392	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	59183496	79432392	27917148	84	17754											
CCDC88C	440193	broad.mit.edu	37	14	91755541	91755541	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:91755541G>A	uc010aty.3	-	24	4503	c.4349C>T	c.(4348-4350)cCg>cTg	p.P1450L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1450					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGATCTGAGCGGCTGAGAGGC	0.652													A	91755541	G	A	91755541	3	1	253	1	0	0	0	0	1	0	0	0	2865	1116	39	2	1761	2	CCDC88C	14	91755541	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	12323149	91755541	15593999	85	17755											
ADAM10	102	broad.mit.edu	37	15	58957380	58957380	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:58957380G>A	uc002afd.1	-	4	945	c.501C>T	c.(499-501)taC>taT	p.Y167Y	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	167					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTGAGGACCGTATTTATGGG	0.348													A	58957380	G	A	58957380	2	1	253	1	0	0	0	0	0	0	0	1	234	1140	40	1		1	ADAM10	15	58957380	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		58957380	43574012	86	17756											
UACA	55075	broad.mit.edu	37	15	70959297	70959297	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:70959297G>C	uc002asr.3	-	15	3830	c.3726C>G	c.(3724-3726)agC>agG	p.S1242R	UACA_uc010uke.2_Missense_Mutation_p.S1133R|UACA_uc002asq.3_Missense_Mutation_p.S1229R|UACA_uc010bin.1_Missense_Mutation_p.S1217R	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1242						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTCATTTAAGCTAGAAATCT	0.323													C	70959297	G	C	70959297	3	2	253	1	0	0	0	0	1	0	0	0	16821	962	34	5	540	5	UACA	15	70959297	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	12001917	70959297	31572095	87	17757											
ALDH1A3	220	broad.mit.edu	37	15	101432805	101432805	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:101432805G>T	uc002bwn.4	+	3	540	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	ALDH1A3_uc010bpb.3_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	146					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ATACTTTGCAGGGTGGGCAGA	0.473													T	101432805	G	T	101432805	3	4	253	1	0	0	0	0	1	0	0	0	492	1000	35	5	450	5	ALDH1A3	15	101432805	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	30473508	101432805	1098587	88	17758											
NF1	4763	broad.mit.edu	37	17	29654677	29654678	+	Frame_Shift_Ins	INS	-	-	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:29654677_29654678insC	uc002hgg.3	+	37	5812_5813	c.5429_5430insC	c.(5428-5430)ctcfs	p.L1810fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.L1789fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.L822fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1810					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGCACGCCGCTCACCTTCATGC	0.48			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29654678	-	C	29654677	7	5	253	1	0	1	1	0	0	0	0	0	10356	1551	54	0	5640	0	NF1	17	29654677	Frame_Shift_Ins	INS	-	TCGA-74-6575-01A-11D-1845-08		29654677	51540533	89	17759											
RAB11FIP4	84440	broad.mit.edu	37	17	29850999	29850999	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:29850999C>A	uc002hgn.1	+	8	1347	c.1118C>A	c.(1117-1119)aCa>aAa	p.T373K	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.T271K	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	373	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CAAGAGAACACACAGCTGGTG	0.597													A	29850999	C	A	29850999	3	1	253	1	0	0	0	0	1	0	0	0	12896	478	17	5	1152	5	RAB11FIP4	17	29850999	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	196322	29850999	51344211	90	17760											
ABCA10	10349	broad.mit.edu	37	17	67211983	67211983	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:67211983A>G	uc010dfa.1	-	8	1710	c.831T>C	c.(829-831)ccT>ccC	p.P277P	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Silent_p.P169P	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	277					transport	integral to membrane	ATP binding|ATPase activity			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)					TGAAGGCAAAAGGGCTAAGAA	0.353													G	67211983	A	G	67211983	2	3	253	1	0	0	0	0	0	0	0	1	29	59	3	4		4	ABCA10	17	67211983	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	37360984	67211983	13983227	91	17761											
CTAGE1	64693	broad.mit.edu	37	18	19996611	19996611	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:19996611G>A	uc002ktv.1	-	0	1268	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	388						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGATCATTTCGTCTACTTTAG	0.343													A	19996611	G	A	19996611	2	1	253	1	0	0	0	0	0	0	0	1	3992	1136	40	1		1	CTAGE1	18	19996611	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		19996611	58080637	92	17762											
DSC2	1824	broad.mit.edu	37	18	28662997	28662997	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:28662997T>A	uc002kwl.4	-	7	1426	c.972A>T	c.(970-972)aaA>aaT	p.K324N	DSC2_uc002kwk.4_Missense_Mutation_p.K324N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	324	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGTCTTGTACTTTTATTTTCA	0.308													A	28662997	T	A	28662997	3	1	253	1	0	0	0	0	1	0	0	0	4766	1606	56	5	1809	5	DSC2	18	28662997	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	8666386	28662997	49414251	93	17763											
CELF4	56853	broad.mit.edu	37	18	34854357	34854357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:34854357G>A	uc002lae.2	-	5	1114	c.718C>T	c.(718-720)Cga>Tga	p.R240*	CELF4_uc021uix.1_Nonsense_Mutation_p.R239*|CELF4_uc021uiy.1_Nonsense_Mutation_p.R240*|CELF4_uc002lag.2_Nonsense_Mutation_p.R230*|CELF4_uc002laf.2_Nonsense_Mutation_p.R235*|CELF4_uc002lai.2_Nonsense_Mutation_p.R225*|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.A75V	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	240	Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.R239L(1)|p.R239W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGCTGCATTCGCCGCATCGTG	0.667													A	34854357	G	A	34854357	4	1	253	1	0	0	0	0	0	1	0	0	3218	1095	38	1	770	1	CELF4	18	34854357	Nonsense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	6191360	34854357	43222891	94	17764											
PPAP2C	8612	broad.mit.edu	37	19	288137	288137	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:288137G>A	uc002loh.3	-	1	253	c.150C>T	c.(148-150)aaC>aaT	p.N50N	PPAP2C_uc002loi.3_Silent_p.N29N|PPAP2C_uc002loj.3_5'UTR	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	29					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGTACGGGGCGTTCACCAGCG	0.617													A	288137	G	A	288137	2	1	253	1	0	0	0	0	0	0	0	1	12292	1136	40	1		1	PPAP2C	19	288137	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		288137	58840846	95	17765											
SLC39A3	29985	broad.mit.edu	37	19	2733313	2733313	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:2733313C>T	uc010xgy.1	-	2	635	c.381G>A	c.(379-381)gtG>gtA	p.V127V	SLC39A3_uc002lwg.3_Silent_p.V127V	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	127						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		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)		AGTCGCTGCCCACGTCCGATC	0.662													T	2733313	C	T	2733313	2	4	253	1	0	0	0	0	0	0	0	1	14619	581	21	3		3	SLC39A3	19	2733313	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	2445176	2733313	56395670	96	17766											
VAV1	7409	broad.mit.edu	37	19	6854017	6854017	+	Nonsense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:6854017C>T	uc002mfu.1	+	25	2489	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	VAV1_uc010xjh.1_Nonsense_Mutation_p.R766*|VAV1_uc010dva.1_Nonsense_Mutation_p.R776*|VAV1_uc002mfv.1_Nonsense_Mutation_p.R743*	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	798	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R798Q(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGCCCGAGACCGATCAGAGCT	0.552													T	6854017	C	T	6854017	4	4	253	1	0	0	0	0	0	1	0	0	17128	644	23	2	2494	2	VAV1	19	6854017	Nonsense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	4120704	6854017	52274966	97	17767											
AKAP8L	26993	broad.mit.edu	37	19	15510183	15510183	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:15510183G>A	uc002naw.1	-	8	1186	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Missense_Mutation_p.R302C	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	363						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCAACTTGCGCTTGGTCTGG	0.602													A	15510183	G	A	15510183	3	1	253	1	0	0	0	0	1	0	0	0	458	1087	38	1	877	1	AKAP8L	19	15510183	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	8656166	15510183	43618800	98	17768											
CPAMD8	27151	broad.mit.edu	37	19	17014389	17014389	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:17014389G>A	uc002nfb.3	-	33	4625	c.4593C>T	c.(4591-4593)gaC>gaT	p.D1531D	CPAMD8_uc002nfd.1_5'UTR	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1484						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCAGCAGCCGTCCCCCTTGG	0.617													A	17014389	G	A	17014389	2	1	253	1	0	0	0	0	0	0	0	1	3795	1136	40	1		1	CPAMD8	19	17014389	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	1504206	17014389	42114594	99	17769											
SLC25A42	284439	broad.mit.edu	37	19	19206999	19206999	+	Silent	SNP	G	G	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:19206999G>T	uc002nlf.2	+	1	222	c.66G>T	c.(64-66)tcG>tcT	p.S22S	SLC25A42_uc010xqn.1_Silent_p.S74S	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	22					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TCCTGTCCTCGTCCGTCTCAT	0.647													T	19206999	G	T	19206999	2	4	253	1	0	0	0	0	0	0	0	1	14507	1132	40	5		5	SLC25A42	19	19206999	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	2192610	19206999	39921984	100	17770											
MEGF8	1954	broad.mit.edu	37	19	42841352	42841352	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:42841352C>T	uc002otl.4	+	7	2142	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	MEGF8_uc002otm.4_Missense_Mutation_p.P44S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	503						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCAGGAACCCCTGAGGGTGA	0.572													T	42841352	C	T	42841352	3	4	253	1	0	0	0	0	1	0	0	0	9463	623	22	3	1537	3	MEGF8	19	42841352	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	23634353	42841352	16287631	101	17771											
ETHE1	23474	broad.mit.edu	37	19	44015698	44015698	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:44015698G>A	uc010eiu.1	-	3	463	c.396C>T	c.(394-396)agC>agT	p.S132S	ETHE1_uc002owp.3_Silent_p.S132S	NM_014297	NP_055112	O95571	ETHE1_HUMAN	Homo sapiens ethylmalonic encephalopathy 1 (ETHE1), nuclear gene encoding mitochondrial protein, mRNA.	132						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGTGGCCAGGGCTGGCCCTGG	0.602													A	44015698	G	A	44015698	2	1	253	1	0	0	0	0	0	0	0	1	5272	1194	42	3		3	ETHE1	19	44015698	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	1174346	44015698	15113285	102	17772											
GPR32	2854	broad.mit.edu	37	19	51274617	51274617	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:51274617C>T	uc010ycf.2	+	0	760	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	254						integral to plasma membrane	N-formyl peptide receptor activity			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)		TGCCAACCGGCCCAAGAGGCT	0.612													T	51274617	C	T	51274617	3	4	253	1	0	0	0	0	1	0	0	0	6688	739	26	3	762	3	GPR32	19	51274617	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	7258919	51274617	7854366	103	17773											
KLK8	11202	broad.mit.edu	37	19	51503469	51503469	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:51503469A>G	uc002puq.1	-	3	597	c.411T>C	c.(409-411)gaT>gaC	p.D137D	KLK8_uc002pur.1_Silent_p.D92D|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.D92D|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	92	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GCTCTGGGCCATCTTTATTCT	0.537													G	51503469	A	G	51503469	2	3	253	1	0	0	0	0	0	0	0	1	8410	214	8	4		4	KLK8	19	51503469	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	228852	51503469	7625514	104	17774											
LILRB3	79168	broad.mit.edu	37	19	54744862	54744862	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:54744862C>T	uc010erh.1	-						LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.R267H|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.R267H|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.R267H|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.R267H|LILRB3_uc010yep.1_Missense_Mutation_p.R267H|LILRB3_uc010yeq.1_Missense_Mutation_p.R267H|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.R267H|LILRB3_uc002qev.1_Missense_Mutation_p.R128H	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.R267L(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)		CTGGCCAGGGCGCTGGAGGAA	0.647													T	54744862	C	T	54744862	3	4	253	1	0	0	0	0	1	0	0	0	8792	768	27	1		1	LILRB3	19	54744862	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	3241393	54744862	4384121	105	17775											
KIR3DL2	3811	broad.mit.edu	37	19	55377847	55377847	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:55377847G>A	uc002qhl.4	+	7	1191	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	KIR3DL2_uc002qho.4_Silent_p.E376E|KIR3DL2_uc010esh.3_Silent_p.E359E			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	376					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGGACCAAGAGCCTGCGGGGG	0.542													A	55377847	G	A	55377847	2	1	253	1	0	0	0	0	0	0	0	1	8321	962	34	3		3	KIR3DL2	19	55377847	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	632985	55377847	3751136	106	17776											
NLRP11	204801	broad.mit.edu	37	19	56313012	56313012	+	Silent	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:56313012C>G	uc010ygf.2	-	6	2808	c.2097G>C	c.(2095-2097)acG>acC	p.T699T	NLRP11_uc002qlz.3_Silent_p.T546T|NLRP11_uc002qmb.3_Silent_p.T600T|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	699							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGGAAATGGACGTACAGTTGA	0.468													G	56313012	C	G	56313012	2	3	253	1	0	0	0	0	0	0	0	1	10473	523	19	5		5	NLRP11	19	56313012	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	935165	56313012	2815971	107	17777											
NLRP13	126204	broad.mit.edu	37	19	56407321	56407321	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:56407321T>A	uc010ygg.2	-	10	3147	c.3122A>T	c.(3121-3123)aAa>aTa	p.K1041I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	1041				KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241).			ATP binding	p.K1041R(2)		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)		TTACCCGAGTTTCTGCAGCCT	0.458													A	56407321	T	A	56407321	3	1	253	1	0	0	0	0	1	0	0	0	10475	1841	64	5	11	5	NLRP13	19	56407321	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	94309	56407321	2721662	108	17778											
ZSCAN22	342945	broad.mit.edu	37	19	58850663	58850663	+	Frame_Shift_Del	DEL	T	T	-			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:58850663delT	uc002qsc.2	+	2	1594	c.1447delT	c.(1447-1449)ttgfs	p.L483fs	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	483					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GATGGTTCACTTGCGGATCCA	0.577													-	58850663	T	-	58850663	7	5	253	1	0	1	0	1	0	0	0	0	18231	1606	56	0	1453	0	ZSCAN22	19	58850663	Frame_Shift_Del	DEL	T	TCGA-74-6575-01A-11D-1845-08	2443342	58850663	278320	109	17779											
CSF2RA	1438	broad.mit.edu	37	X	1407534	1407534	+	Silent	SNP	A	A	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:1407534A>G	uc010nct.2	+	6	665	c.343_splice	c.e6+1	p.G115_splice	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Splice_Site_p.G115_splice|CSF2RA_uc004cpq.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpn.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpo.2_Splice_Site_p.G115_splice|CSF2RA_uc010ncu.2_Splice_Site|CSF2RA_uc011mhc.1_Splice_Site|CSF2RA_uc004cpp.2_Splice_Site_p.G115_splice|CSF2RA_uc010ncv.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpr.2_Splice_Site_p.G115_splice	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	115						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	ATCCAAATTCAGGTAAGCAAG	0.443													G	1407534	A	G	1407534	2	3	253	1	0	0	0	0	0	0	0	1	3934	202	7	4		4	CSF2RA	23	1407534	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08		1407534	153863026	110	17780											
TLR7	51284	broad.mit.edu	37	X	12906437	12906437	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:12906437A>T	uc004cvc.3	+	2	2949	c.2810A>T	c.(2809-2811)cAg>cTg	p.Q937L		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	937	TIR.				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			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)	TTACCAGGGCAGCCAGTTCTG	0.443													T	12906437	A	T	12906437	3	4	253	1	0	0	0	0	1	0	0	0	15953	188	7	5	2816	5	TLR7	23	12906437	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	11498903	12906437	142364123	111	17781											
BMX	660	broad.mit.edu	37	X	15526512	15526512	+	Silent	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:15526512C>G	uc004cww.3	+	1	224	c.36C>G	c.(34-36)ctC>ctG	p.L12L	BMX_uc004cwx.4_Silent_p.L12L|BMX_uc004cwy.4_Silent_p.L12L	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	12	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AACTTCTTCTCAAAAGATCAC	0.284													G	15526512	C	G	15526512	2	3	253	1	0	0	0	0	0	0	0	1	1473	813	29	5		5	BMX	23	15526512	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	2620075	15526512	139744048	112	17782											
CDKL5	6792	broad.mit.edu	37	X	18664128	18664128	+	Silent	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:18664128C>T	uc004cym.3	+	19	2967	c.2714_splice	c.e19-1	p.D905_splice	CDKL5_uc004cyn.3_Splice_Site_p.D905_splice|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	905					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.D905D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					actaactagacggtggatgtg	0.493													T	18664128	C	T	18664128	2	4	253	1	0	0	0	0	0	0	0	1	3157	550	19	1		1	CDKL5	23	18664128	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	3137616	18664128	136606432	113	17783											
UBQLN2	29978	broad.mit.edu	37	X	56590893	56590893	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:56590893C>T	uc004dus.3	+	0	868	c.587C>T	c.(586-588)tCg>tTg	p.S196L	UBQLN2_uc011moq.1_Missense_Mutation_p.S196L	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	196						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCATGCTTTCGAATCCCGAT	0.473													T	56590893	C	T	56590893	3	4	253	1	0	0	0	0	1	0	0	0	16894	893	31	2	589	2	UBQLN2	23	56590893	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	37926765	56590893	98679667	114	17784											
ATRX	546	broad.mit.edu	37	X	76918879	76918879	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:76918879C>G	uc004ecp.4	-	11	4344	c.4112G>C	c.(4111-4113)aGa>aCa	p.R1371T	ATRX_uc004ecq.4_Missense_Mutation_p.R1333T|ATRX_uc004eco.4_Missense_Mutation_p.R1156T|ATRX_uc004ecr.2_Missense_Mutation_p.R1303T	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1371					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACCCTTTCTTCTGTTTCTGCC	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76918879	C	G	76918879	3	3	253	1	0	0	0	0	1	0	0	0	1208	913	32	5	3462	5	ATRX	23	76918879	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	20327986	76918879	78351681	115	17785											
POU3F4	5456	broad.mit.edu	37	X	82763915	82763915	+	Missense_Mutation	SNP	G	G	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:82763915G>C	uc004eeg.2	+	0	647	c.583G>C	c.(583-585)Gaa>Caa	p.E195Q		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	195	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGATGAGTTGGAACAGTTCGC	0.582													C	82763915	G	C	82763915	3	2	253	1	0	0	0	0	1	0	0	0	12277	1175	41	5	585	5	POU3F4	23	82763915	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	5845036	82763915	72506645	116	17786											
TAF7L	54457	broad.mit.edu	37	X	100538449	100538449	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:100538449C>G	uc004ehb.3	-	3	552	c.526G>C	c.(526-528)Gac>Cac	p.D176H	TAF7L_uc004eha.3_Missense_Mutation_p.D90H|TAF7L_uc004ehc.2_Missense_Mutation_p.D90H	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	176					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGAGAAATGTCTGCTGTTTTA	0.378													G	100538449	C	G	100538449	3	3	253	1	0	0	0	0	1	0	0	0	15530	913	32	5	902	5	TAF7L	23	100538449	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	17774534	100538449	54732111	117	17787											
TAF7L	54457	broad.mit.edu	37	X	100538507	100538507	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:100538507C>G	uc004ehb.3	-	3	494	c.468G>C	c.(466-468)ttG>ttC	p.L156F	TAF7L_uc004eha.3_Missense_Mutation_p.L70F|TAF7L_uc004ehc.2_Missense_Mutation_p.L70F	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	156					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TAACACAAGGCAAGTCAACCA	0.403													G	100538507	C	G	100538507	3	3	253	1	0	0	0	0	1	0	0	0	15530	709	25	5	960	5	TAF7L	23	100538507	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	58	100538507	54732053	118	17788											
KCNE1L	23630	broad.mit.edu	37	X	108868079	108868079	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:108868079G>A	uc004eoh.3	-	0	315	c.171C>T	c.(169-171)gaC>gaT	p.D57D		NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN	Homo sapiens KCNE1-like (KCNE1L), mRNA.	57					regulation of heart contraction	voltage-gated potassium channel complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GATAGGCGTCGTCGCCCTTGG	0.652													A	108868079	G	A	108868079	2	1	253	1	0	0	0	0	0	0	0	1	8022	1136	40	1		1	KCNE1L	23	108868079	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	8329572	108868079	46402481	119	17789											
XPNPEP2	7512	broad.mit.edu	37	X	128890500	128890500	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:128890500A>C	uc004eut.1	+	13	1580	c.1336A>C	c.(1336-1338)Atg>Ctg	p.M446L		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	446					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTCAGATGAGATGTACCTGCT	0.592													C	128890500	A	C	128890500	3	2	253	1	0	0	0	0	1	0	0	0	17440	333	12	5	1390	5	XPNPEP2	23	128890500	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	20022421	128890500	26380060	120	17790											
MAGEC1	9947	broad.mit.edu	37	X	140994261	140994261	+	Silent	SNP	T	T	C	rs58302943	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:140994261T>C	uc004fbt.3	+	3	1395	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S16S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	357							protein binding	p.S357Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTTCTCCTGAGAGTG	0.468										HNSCC(15;0.026)			C	140994261	T	C	140994261	2	2	253	1	0	0	0	0	0	0	0	1	9180	1538	54	4		4	MAGEC1	23	140994261	Silent	SNP	T	TCGA-74-6575-01A-11D-1845-08	12103761	140994261	14276299	121	17791											
FLNA	2316	broad.mit.edu	37	X	153592699	153592699	+	Silent	SNP	G	G	A			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:153592699G>A	uc004fkk.2	-	13	2313	c.2064C>T	c.(2062-2064)gcC>gcT	p.A688A	FLNA_uc010nuu.1_Silent_p.A688A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	688					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTGTTGACGGCCACACCTG	0.637													A	153592699	G	A	153592699	2	1	253	1	0	0	0	0	0	0	0	1	5933	1103	39	2		2	FLNA	23	153592699	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	12598438	153592699	1677861	122	17792											
KIAA0090	23065	broad.mit.edu	37	1	19557342	19557342	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:19557342C>T	uc001bbo.3	-	16	2103	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	KIAA0090_uc001bbp.3_Missense_Mutation_p.R686Q|KIAA0090_uc001bbq.3_Missense_Mutation_p.R686Q|KIAA0090_uc001bbr.3_Missense_Mutation_p.R665Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	687						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TCCTACCTTTCGAAGCCGATA	0.502													T	19557342	C	T	19557342	3	4	254	1	0	0	0	0	1	0	0	0	8153	884	31	2	949	2	KIAA0090	1	19557342	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		19557342	229693279	1	17793											
HRNR	388697	broad.mit.edu	37	1	152185734	152185734	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:152185734C>T	uc001ezt.1	-	2	8447	c.8371G>A	c.(8371-8373)Ggc>Agc	p.G2791S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2791					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAGCCAGACCCATGT	0.557													T	152185734	C	T	152185734	3	4	254	1	0	0	0	0	1	0	0	0	7359	594	21	3	185	3	HRNR	1	152185734	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	132628392	152185734	97064887	2	17794											
SOX13	9580	broad.mit.edu	37	1	204092264	204092265	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:204092264_204092265CC>AA	uc001ham.3	+	10	1754_1755	c.1159_1160CC>AA	c.(1159-1161)cca>AAa	p.P387K	SOX13_uc010pqp.2_Missense_Mutation_p.P386K|SOX13_uc010pqq.2_Missense_Mutation_p.P254K	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	387					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGACTCATCCCCAGCCAAGGAG	0.634													AA	204092265	CC	AA	204092264	3	1	254	1	0	0	0	0	1	0	0	0	14944	623	22	5	1197	5	SOX13	1	204092264	Missense_Mutation	DNP	CC	TCGA-74-6577-01A-11D-1845-08	51906530	204092264	45158357	3	17795											
REN	5972	broad.mit.edu	37	1	204125330	204125330	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:204125330C>A	uc001haq.2	-	7	980	c.936G>T	c.(934-936)ttG>ttT	p.L312F		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	312					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCTTGGCTCCCAAGGCCTCCA	0.567													A	204125330	C	A	204125330	3	1	254	1	0	0	0	0	1	0	0	0	13224	593	21	5	296	5	REN	1	204125330	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	33066	204125330	45125291	4	17796											
GLI2	2736	broad.mit.edu	37	2	121748070	121748070	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr2:121748070G>T	uc010flp.3	+	12	4610	c.4580G>T	c.(4579-4581)gGt>gTt	p.G1527V	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.G1199V|GLI2_uc002tmu.4_Missense_Mutation_p.G1182V	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1527					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTGTTCTCGGGTGCTCTGAGC	0.622													T	121748070	G	T	121748070	3	4	254	1	0	0	0	0	1	0	0	0	6438	1261	44	5	4630	5	GLI2	2	121748070	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		121748070	121451303	5	17797											
SEMA3G	56920	broad.mit.edu	37	3	52475334	52475334	+	Silent	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr3:52475334C>T	uc003dea.1	-	6	759	c.759G>A	c.(757-759)tcG>tcA	p.S253S		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	253	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CACCATCGGGCGAGGGGACCG	0.617													T	52475334	C	T	52475334	2	4	254	1	0	0	0	0	0	0	0	1	14030	755	27	1		1	SEMA3G	3	52475334	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08		52475334	145547096	6	17798											
UGT2B4	7363	broad.mit.edu	37	4	70346533	70346533	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr4:70346533C>T	uc003hek.4	-	5	1453	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	UGT2B4_uc011cap.2_Missense_Mutation_p.R333H|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	469					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCCTTTATGGCGCATGACAAA	0.473													T	70346533	C	T	70346533	3	4	254	1	0	0	0	0	1	0	0	0	16958	768	27	1	184	1	UGT2B4	4	70346533	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		70346533	120807743	7	17799											
NPR3	4883	broad.mit.edu	37	5	32774858	32774858	+	Silent	SNP	C	C	T	rs140897654	by1000genomes	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:32774858C>T	uc003jhv.3	+	3	1549	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	NPR3_uc010iuo.3_Silent_p.Y152Y|NPR3_uc003jhw.2_Silent_p.Y152Y|NPR3_uc003jhu.3_Silent_p.Y368Y	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	368					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.Y368Y(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCCTCCTCTACGTCTTGGCTC	0.443													T	32774858	C	T	32774858	2	4	254	1	0	0	0	0	0	0	0	1	10596	547	19	1		1	NPR3	5	32774858	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08		32774858	148140402	8	17800											
STK32A	202374	broad.mit.edu	37	5	146750222	146750222	+	Silent	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:146750222G>A	uc011dbw.1	+	8	946	c.666G>A	c.(664-666)ccG>ccA	p.P222P	STK32A_uc003lom.2_Silent_p.P222P|STK32A_uc010jgn.1_Silent_p.P222P	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	Homo sapiens serine/threonine kinase 32A (STK32A), transcript variant 1, mRNA.	222	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAGACCGTATCATATTC	0.378													A	146750222	G	A	146750222	2	1	254	1	0	0	0	0	0	0	0	1	15296	1132	40	1		1	STK32A	5	146750222	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08	113975364	146750222	34165038	9	17801											
ABLIM3	22885	broad.mit.edu	37	5	148619445	148619445	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:148619445C>T	uc003lpy.2	+	12	1449	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ABLIM3_uc003lpz.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqa.1_Missense_Mutation_p.R346C|ABLIM3_uc003lqb.3_Missense_Mutation_p.R338C|ABLIM3_uc003lqc.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqd.1_Missense_Mutation_p.R338C|ABLIM3_uc003lqe.1_Missense_Mutation_p.R338C|ABLIM3_uc003lqf.3_Missense_Mutation_p.R338C	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	400					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTACTACCGCTCTGGTAA	0.647													T	148619445	C	T	148619445	3	4	254	1	0	0	0	0	1	0	0	0	96	652	23	2	1244	2	ABLIM3	5	148619445	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	1869223	148619445	32295815	10	17802											
HLA-G	3136	broad.mit.edu	37	6	29855999	29855999	+	Missense_Mutation	SNP	G	G	A	rs113415054	by1000genomes	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr6:29855999G>A	uc010jro.3	+	1	493	c.347G>A	c.(346-348)gGc>gAc	p.G116D	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Intron|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	114	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|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			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CAGAGCGAGGGCGGTGAGTGA	0.667													A	29855999	G	A	29855999	3	1	254	1	0	0	0	0	1	0	0	0	7212	1218	42	3		3	HLA-G	6	29855999	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		29855999	141259068	11	17803											
MYO6	4646	broad.mit.edu	37	6	76566831	76566834	+	Frame_Shift_Del	DEL	AGCA	AGCA	-			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr6:76566831_76566834delAGCA	uc003pih.1	+	12	1520_1523	c.1241_1244delAGCA	c.(1240-1245)gagcaafs	p.E414fs	MYO6_uc003pig.1_Frame_Shift_Del_p.E414fs|MYO6_uc003pii.1_Frame_Shift_Del_p.E414fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	414	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTGAAAGTGGAGCAAGCAAACAAT	0.377													-	76566834	AGCA	-	76566831	7	5	254	1	0	1	0	1	0	0	0	0	10081	304	11	0	1287	0	MYO6	6	76566831	Frame_Shift_Del	DEL	AGCA	TCGA-74-6577-01A-11D-1845-08	46710832	76566831	94548236	12	17804											
PKD1L1	168507	broad.mit.edu	37	7	47869692	47869692	+	Silent	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:47869692C>T	uc003tny.2	-	42	6538	c.6504G>A	c.(6502-6504)ctG>ctA	p.L2168L	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2168					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCAGGTGCAGCCACTGCA	0.577													T	47869692	C	T	47869692	2	4	254	1	0	0	0	0	0	0	0	1	11964	697	25	3		3	PKD1L1	7	47869692	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08		47869692	111268971	13	17805											
ZP3	7784	broad.mit.edu	37	7	76054396	76054396	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:76054396G>A	uc003ufd.4	+	0	125	c.115G>A	c.(115-117)Gta>Ata	p.V39I	ZP3_uc003ufc.4_5'UTR	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	39					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TGAGACGTCCGTACAGCCCGT	0.592													A	76054396	G	A	76054396	3	1	254	1	0	0	0	0	1	0	0	0	18214	1145	40	1	117	1	ZP3	7	76054396	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	28184704	76054396	83084267	14	17806											
RBM28	55131	broad.mit.edu	37	7	127954955	127954956	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:127954955_127954956GG>TT	uc003vmp.2	-	16	2021_2022	c.1906_1907CC>AA	c.(1906-1908)cca>AAa	p.P636K	RBM28_uc011koj.1_Missense_Mutation_p.P495K	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	636					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCTGCTCTGGGGGCACCTTG	0.564													TT	127954956	GG	TT	127954955	3	4	254	1	0	0	0	0	1	0	0	0	13128	1348	47	5	384	5	RBM28	7	127954955	Missense_Mutation	DNP	GG	TCGA-74-6577-01A-11D-1845-08	51900559	127954955	31183708	15	17807											
MLL3	58508	broad.mit.edu	37	7	151945253	151945253	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:151945253C>T	uc003wla.3	-	13	2485	c.2266G>A	c.(2266-2268)Gga>Aga	p.G756R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	756					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.G756A(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GATTTGCCTCCTTGGTATGAA	0.393			N		medulloblastoma								T	151945253	C	T	151945253	3	4	254	1	0	0	0	0	1	0	0	0	9622	690	24	3	12653	3	MLL3	7	151945253	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	23990298	151945253	7193410	16	17808											
PTPRN2	5799	broad.mit.edu	37	7	157985120	157985120	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:157985120C>T	uc003wno.3	-	4	569	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	PTPRN2_uc003wnp.3_Missense_Mutation_p.A133T|PTPRN2_uc003wnq.3_Missense_Mutation_p.A150T|PTPRN2_uc003wnr.3_Missense_Mutation_p.A112T|PTPRN2_uc011kwa.2_Missense_Mutation_p.A173T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	150						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGTCGGAGGGCGTTGGCCAGG	0.652													T	157985120	C	T	157985120	3	4	254	1	0	0	0	0	1	0	0	0	12808	768	27	1	2675	1	PTPRN2	7	157985120	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	6039867	157985120	1153543	17	17809											
VPS13B	157680	broad.mit.edu	37	8	100821739	100821739	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr8:100821739T>C	uc003yiv.3	+	43	8264	c.8153T>C	c.(8152-8154)cTc>cCc	p.L2718P	VPS13B_uc003yiw.3_Missense_Mutation_p.L2693P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2718					protein transport					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)			GTTCAGCAACTCAATGGAGTA	0.383													C	100821739	T	C	100821739	3	2	254	1	0	0	0	0	1	0	0	0	17187	1551	54	4	8517	4	VPS13B	8	100821739	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08		100821739	45542283	18	17810											
PRUNE2	158471	broad.mit.edu	37	9	79324782	79324782	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:79324782A>T	uc010mpk.3	-	7	2532	c.2408T>A	c.(2407-2409)tTt>tAt	p.F803Y	PRUNE2_uc022bih.1_Missense_Mutation_p.F625Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	803					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCTTTACCAAATGCACTCCA	0.517													T	79324782	A	T	79324782	3	4	254	1	0	0	0	0	1	0	0	0	12641	14	1	5	6906	5	PRUNE2	9	79324782	Missense_Mutation	SNP	A	TCGA-74-6577-01A-11D-1845-08		79324782	61888649	19	17811											
SVEP1	79987	broad.mit.edu	37	9	113171158	113171158	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:113171158G>A	uc010mtz.3	-	37	7059	c.6722C>T	c.(6721-6723)cCt>cTt	p.P2241L	SVEP1_uc010mty.3_Missense_Mutation_p.P167L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2241	Sushi 14.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACAAATACAGGACTTCCGAC	0.507													A	113171158	G	A	113171158	3	1	254	1	0	0	0	0	1	0	0	0	15417	1000	35	3	4037	3	SVEP1	9	113171158	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	33846376	113171158	28042273	20	17812											
C9orf84	158401	broad.mit.edu	37	9	114475419	114475419	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:114475419C>G	uc004bfr.3	-	15	2392	c.2257G>C	c.(2257-2259)Gaa>Caa	p.E753Q	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.E714Q|C9orf84_uc010mug.3_Missense_Mutation_p.E664Q	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	753										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATGTTTTTCACCGTCTGAG	0.259													G	114475419	C	G	114475419	3	3	254	1	0	0	0	0	1	0	0	0	2500	835	29	5	2121	5	C9orf84	9	114475419	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	1304261	114475419	26738012	21	17813											
PAPPA	5069	broad.mit.edu	37	9	118982397	118982397	+	Silent	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:118982397T>C	uc004bjn.3	+	4	2481	c.2100T>C	c.(2098-2100)caT>caC	p.H700H	PAPPA_uc011lxp.1_Silent_p.H395H|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	700					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TAGATGGCCATTTCTTTGAAA	0.547													C	118982397	T	C	118982397	2	2	254	1	0	0	0	0	0	0	0	1	11432	1490	52	4		4	PAPPA	9	118982397	Silent	SNP	T	TCGA-74-6577-01A-11D-1845-08	4506978	118982397	22231034	22	17814											
PTEN	5728	broad.mit.edu	37	10	89720855	89720856	+	Frame_Shift_Ins	INS	-	-	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr10:89720855_89720856insA	uc001kfb.3	+	7	2038_2039	c.1006_1007insA	c.(1006-1008)tacfs	p.Y336fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	336	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R335*(25)|p.Y336*(6)|p.R55fs*1(5)|p.R335fs*8(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*4(2)|p.R335fs*7(2)|p.W274_F341del(2)|p.Y336F(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335G(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGCCAACCGATACTTTTCTCCA	0.337		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720856	-	A	89720855	7	5	254	1	0	1	1	0	0	0	0	0	12738	1406	49	0	1036	0	PTEN	10	89720855	Frame_Shift_Ins	INS	-	TCGA-74-6577-01A-11D-1845-08		89720855	45813892	23	17815											
USH1C	10083	broad.mit.edu	37	11	17519716	17519716	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr11:17519716T>C	uc001mnf.3	-	18	1692	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R	USH1C_uc001mne.3_Missense_Mutation_p.Q828R|USH1C_uc009yhb.3_Missense_Mutation_p.Q509R|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.Q492R	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	528	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TACCCCGCCCTGATTCCAGGC	0.577													C	17519716	T	C	17519716	3	2	254	1	0	0	0	0	1	0	0	0	17031	1580	55	4	232	4	USH1C	11	17519716	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08		17519716	117486800	24	17816											
SLC43A3	5553	broad.mit.edu	37	11	57155245	57155245	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr11:57155245C>T	uc001nkc.3	-	4	666	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	SLC43A3_uc001nkd.3_Missense_Mutation_p.V187M|SLC43A3_uc001nke.3_Missense_Mutation_p.V478M	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CACAGGGCCACGCAGTGACCA	0.617													T	57155245	C	T	57155245	3	4	254	1	0	0	0	0	1	0	0	0	14634	536	19	1		1	SLC43A3	11	57155245	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	39635529	57155245	77851271	25	17817											
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	254	1	0	0	0	0	1	0	0	0	8438	507	18	3	671	3	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		25398284	108453611	26	17818											
AQP2	359	broad.mit.edu	37	12	50344911	50344911	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:50344911G>A	uc001rvn.3	+	0	388	c.298G>A	c.(298-300)Gga>Aga	p.G100R		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	100			G -> R (in ANDI).|G -> V (in ANDI; dbSNP:rs28929477).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGCTGTGGCCGGAGCCGCTCT	0.647													A	50344911	G	A	50344911	3	1	254	1	0	0	0	0	1	0	0	0	826	1117	39	2	300	2	AQP2	12	50344911	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	24946627	50344911	83506984	27	17819											
NACA	4666	broad.mit.edu	37	12	57108166	57108166	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:57108166T>C	uc001sly.2	-	3	537	c.214A>G	c.(214-216)Agt>Ggt	p.S72G	NACA_uc021qze.1_Missense_Mutation_p.S1935G|NACA_uc001slz.2_Missense_Mutation_p.S72G|NACA_uc001sma.2_Missense_Mutation_p.S782G|NACA_uc001smc.2_Missense_Mutation_p.S72G|NACA_uc010squ.1_Intron	NM_001113202	NP_001106673	Q13765	NACA_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit (NACA), transcript variant 4, mRNA.	72	NAC-A/B.|Required for DNA-binding (By similarity).				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCTTTTCACTCCGACTCTGT	0.393			T	BCL6	NHL								C	57108166	T	C	57108166	3	2	254	1	0	0	0	0	1	0	0	0	10133	1551	54	4	453	4	NACA	12	57108166	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08	6763255	57108166	76743729	28	17820											
OR4K2	390431	broad.mit.edu	37	14	20345324	20345324	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:20345324A>G	uc001vwh.1	+	0	898	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R299S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCCATGAGGAAACTGAAAAA	0.348													G	20345324	A	G	20345324	3	3	254	1	0	0	0	0	1	0	0	0	11072	247	9	4	900	4	OR4K2	14	20345324	Missense_Mutation	SNP	A	TCGA-74-6577-01A-11D-1845-08		20345324	87004216	29	17821											
TTC5	91875	broad.mit.edu	37	14	20760171	20760171	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:20760171G>A	uc001vwt.3	-	8	1231	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	TTC5_uc001vwu.3_Missense_Mutation_p.R249W	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	392					DNA repair	cytoplasm|nucleus	binding	p.R392Q(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)		CGGTGAAGCCGCAGGTTGGGC	0.453													A	20760171	G	A	20760171	3	1	254	1	0	0	0	0	1	0	0	0	16708	1086	38	1	156	1	TTC5	14	20760171	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	414847	20760171	86589369	30	17822											
LTB4R2	56413	broad.mit.edu	37	14	24779987	24779987	+	Silent	SNP	C	C	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:24779987C>A	uc021rrp.1	+	0	117	c.117C>A	c.(115-117)ggC>ggA	p.G39G	CIDEB_uc001won.3_5'Flank|CIDEB_uc001woo.3_5'UTR|CIDEB_uc001wop.3_5'UTR|LTB4R2_uc010alo.3_Silent_p.G39G|LTB4R2_uc001wor.3_Silent_p.G39G|LTB4R_uc001wos.3_5'Flank|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	70					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTGGCAACGGCTTCGTGGTGT	0.726													A	24779987	C	A	24779987	2	1	254	1	0	0	0	0	0	0	0	1	9072	784	28	5		5	LTB4R2	14	24779987	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08	4019816	24779987	82569553	31	17823											
BAZ1A	11177	broad.mit.edu	37	14	35331298	35331298	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:35331298C>T	uc001wsk.3	-	2	912	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	BAZ1A_uc001wsl.3_Missense_Mutation_p.R115Q|BAZ1A_uc001wsm.1_Missense_Mutation_p.R115Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	115	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GACAAAATATCGATCCTTGAC	0.358													T	35331298	C	T	35331298	3	4	254	1	0	0	0	0	1	0	0	0	1329	884	31	2	4426	2	BAZ1A	14	35331298	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	10551311	35331298	72018242	32	17824											
GJD2	57369	broad.mit.edu	37	15	35045056	35045056	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:35045056G>A	uc001zis.1	-	1	589	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	197					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATGTAGAAGCGGGAGATGCCT	0.483													A	35045056	G	A	35045056	3	1	254	1	0	0	0	0	1	0	0	0	6417	1116	39	2	380	2	GJD2	15	35045056	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		35045056	67486336	33	17825											
BAHD1	22893	broad.mit.edu	37	15	40750942	40750942	+	Silent	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:40750942G>A	uc001zlu.2	+	1	350	c.279G>A	c.(277-279)ccG>ccA	p.P93P	BAHD1_uc001zlt.2_Silent_p.P93P|BAHD1_uc010bbp.1_Silent_p.P93P|BAHD1_uc001zlv.2_Silent_p.P93P	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	93					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ATGAGCTACCGCCTGACCTGC	0.662													A	40750942	G	A	40750942	2	1	254	1	0	0	0	0	0	0	0	1	1297	1074	38	1		1	BAHD1	15	40750942	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08	5705886	40750942	61780450	34	17826											
STRC	161497	broad.mit.edu	37	15	43893602	43893602	+	Missense_Mutation	SNP	T	T	C	rs141809944		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:43893602T>C	uc001zsf.3	-	23	4771	c.4693A>G	c.(4693-4695)Acc>Gcc	p.T1565A	STRC_uc010bdl.3_Missense_Mutation_p.T792A|STRC_uc001zse.3_Missense_Mutation_p.T83A	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1565					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACCTGAGTGGTGCTCCAGCCA	0.522													C	43893602	T	C	43893602	3	2	254	1	0	0	0	0	1	0	0	0	15327	1696	59	4	658	4	STRC	15	43893602	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08	3142660	43893602	58637790	35	17827											
SEC14L5	9717	broad.mit.edu	37	16	5058451	5058451	+	Silent	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr16:5058451G>A	uc002cye.2	+	13	1782	c.1602G>A	c.(1600-1602)tcG>tcA	p.S534S		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	534	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AAGGAGAGTCGGTCATCACCT	0.642													A	5058451	G	A	5058451	2	1	254	1	0	0	0	0	0	0	0	1	13985	1103	39	2		2	SEC14L5	16	5058451	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08		5058451	85296302	36	17828											
APPBP2	10513	broad.mit.edu	37	17	58603208	58603208	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr17:58603208G>A	uc002iys.1	-	0	373	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	APPBP2_uc010ddl.1_5'UTR	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	29					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ATGTCTCGGCGGGAGCGGATG	0.592													A	58603208	G	A	58603208	3	1	254	1	0	0	0	0	1	0	0	0	816	1116	39	2	1724	2	APPBP2	17	58603208	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		58603208	22592002	37	17829											
CD300LD	100131439	broad.mit.edu	37	17	72576247	72576247	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr17:72576247G>A	uc002jkz.2	-	3	508	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	160						integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCTTGAGCGGGGACCTGTG	0.572													A	72576247	G	A	72576247	3	1	254	1	0	0	0	0	1	0	0	0	3000	1116	39	2	109	2	CD300LD	17	72576247	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	13973039	72576247	8618963	38	17830											
SERPINB7	8710	broad.mit.edu	37	18	61471645	61471645	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr18:61471645C>T	uc002ljl.3	+	7	1015	c.919C>T	c.(919-921)Ctc>Ttc	p.L307F	SERPINB7_uc002ljm.3_Missense_Mutation_p.L307F|SERPINB7_uc010xet.2_Missense_Mutation_p.L290F|SERPINB7_uc010dqg.3_Missense_Mutation_p.L307F	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	307					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CAAAGCAGATCTCTCTGGGAT	0.433													T	61471645	C	T	61471645	3	4	254	1	0	0	0	0	1	0	0	0	14106	913	32	3	945	3	SERPINB7	18	61471645	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		61471645	16605603	39	17831											
ATP9B	374868	broad.mit.edu	37	18	77037059	77037059	+	Missense_Mutation	SNP	G	G	A	rs149013492		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr18:77037059G>A	uc002lmx.3	+	12	1288	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.R425H|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_Missense_Mutation_p.R119H	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	425					ATP biosynthetic process	integral to 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			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGCAGTTTGCGTGTGAACTTG	0.493													A	77037059	G	A	77037059	3	1	254	1	0	0	0	0	1	0	0	0	1199	1145	40	1	1324	1	ATP9B	18	77037059	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	15565414	77037059	1040189	40	17832											
S1PR2	9294	broad.mit.edu	37	19	10335447	10335447	+	Silent	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:10335447G>A	uc002mnl.2	-	1	246	c.135C>T	c.(133-135)tgC>tgT	p.C45C	S1PR2_uc021uos.1_Silent_p.C45C	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	45					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCACAATGGCGCAACAGAGGA	0.567													A	10335447	G	A	10335447	2	1	254	1	0	0	0	0	0	0	0	1	13794	1079	38	1		1	S1PR2	19	10335447	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08		10335447	48793536	41	17833											
CILP2	148113	broad.mit.edu	37	19	19655680	19655680	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:19655680C>T	uc002nmw.4	+	7	2429	c.2344C>T	c.(2344-2346)Cgt>Tgt	p.R782C	CILP2_uc002nmv.4_Missense_Mutation_p.R776C	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	776						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCAACCCCCGTGCCTGGGG	0.711													T	19655680	C	T	19655680	3	4	254	1	0	0	0	0	1	0	0	0	3430	652	23	2	2356	2	CILP2	19	19655680	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	9320233	19655680	39473303	42	17834											
LILRB3	11026	broad.mit.edu	37	19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:54803127C>T	uc002qfd.3	-	3	642	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.V184M(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)		ACGGGGCCCACGGAGAAGATG	0.567													T	54803127	C	T	54803127	3	4	254	1	0	0	0	0	1	0	0	0	8792	536	19	1		1	LILRB3	19	54803127	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	35147447	54803127	4325856	43	17835											
NLRP4	147945	broad.mit.edu	37	19	56382302	56382302	+	Missense_Mutation	SNP	G	G	A	rs140263319	by1000genomes	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:56382302G>A	uc002qmd.4	+	6	2886	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	NLRP4_uc002qmf.3_Missense_Mutation_p.E747K|NLRP4_uc010etf.3_Missense_Mutation_p.E597K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	822							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTGAAGGACGAAGGACTGAA	0.512													A	56382302	G	A	56382302	3	1	254	1	0	0	0	0	1	0	0	0	10479	1059	37	2	2486	2	NLRP4	19	56382302	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	1579175	56382302	2746681	44	17836											
RBCK1	10616	broad.mit.edu	37	20	390566	390566	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr20:390566G>A	uc002wdp.4	+	1	757	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RBCK1_uc010zpl.1_Missense_Mutation_p.G22R|RBCK1_uc010zpm.1_Non-coding_Transcript|RBCK1_uc002wdq.4_Intron|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Intron|RBCK1_uc002wdo.3_Non-coding_Transcript	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	22	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGTGGCGGGCGGGGATGAACA	0.582													A	390566	G	A	390566	3	1	254	1	0	0	0	0	1	0	0	0	13107	1116	39	2	89	2	RBCK1	20	390566	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		390566	62634954	45	17837											
COL18A1	80781	broad.mit.edu	37	21	46897864	46897864	+	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr21:46897864delA	uc002zhi.3	+	6	1767	c.1746delA	c.(1744-1746)ggafs	p.G582fs	COL18A1_uc002zhg.3_Frame_Shift_Del_p.G402fs	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	817	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCACCCCTGGAAGGGACGGCG	0.726													-	46897864	A	-	46897864	7	5	254	1	0	1	0	1	0	0	0	0	3675	233	9	0	2591	0	COL18A1	21	46897864	Frame_Shift_Del	DEL	A	TCGA-74-6577-01A-11D-1845-08		46897864	1232031	46	17838											
FAM47C	442444	broad.mit.edu	37	X	37027712	37027712	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:37027712G>A	uc004ddl.2	+	0	1281	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	410								p.R410L(3)		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						CCCAAGACTCGCATATCTAAT	0.607													A	37027712	G	A	37027712	3	1	254	1	0	0	0	0	1	0	0	0	5571	1087	38	1	1231	1	FAM47C	23	37027712	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		37027712	118242848	47	17839											
DDX3X	1654	broad.mit.edu	37	X	41206682	41206683	+	In_Frame_Ins	INS	-	-	AGC			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:41206682_41206683insAGC	uc004dfe.3	+	15	2742_2743	c.1887_1888insAGC	c.(1885-1890)insAGC	p.631_632insS	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_In_Frame_Ins_p.630_631insS|DDX3X_uc011mkq.2_In_Frame_Ins_p.615_616insS|DDX3X_uc011mkr.2_In_Frame_Ins_p.501_502insS|DDX3X_uc004dfg.3_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	631	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.R632I(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						gtggccacggtagcagcagAGG	0.505										HNSCC(61;0.18)			AGC	41206683	-	AGC	41206682	7	5	254	1	0	1	1	0	0	0	0	0	4358	1625	57	0	1949	0	DDX3X	23	41206682	In_Frame_Ins	INS	-	TCGA-74-6577-01A-11D-1845-08	4178970	41206682	114063878	48	17840											
STAG2	10735	broad.mit.edu	37	X	123197784	123197784	+	Nonsense_Mutation	SNP	C	C	G			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:123197784C>G	uc004eua.3	+	19	2312	c.1908C>G	c.(1906-1908)taC>taG	p.Y636*	STAG2_uc004etz.4_Nonsense_Mutation_p.Y636*|STAG2_uc004eub.3_Nonsense_Mutation_p.Y636*|STAG2_uc004euc.3_Nonsense_Mutation_p.Y636*|STAG2_uc004eud.3_Nonsense_Mutation_p.Y636*|STAG2_uc004eue.3_Nonsense_Mutation_p.Y636*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	636					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTAAAACTTACCATGCACTCT	0.363													G	123197784	C	G	123197784	4	3	254	1	0	0	0	0	0	1	0	0	15242	518	18	5	1978	5	STAG2	23	123197784	Nonsense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	81991102	123197784	32072776	49	17841											
FRMD7	90167	broad.mit.edu	37	X	131216403	131216403	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:131216403C>A	uc004ewn.3	-	8	1071	c.893G>T	c.(892-894)aGt>aTt	p.S298I	FRMD7_uc022cdy.1_Missense_Mutation_p.S178I|FRMD7_uc011muy.2_Missense_Mutation_p.S283I	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	298					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATAGCGGAAACTGGAACCCTT	0.448													A	131216403	C	A	131216403	3	1	254	1	0	0	0	0	1	0	0	0	6055	565	20	5	1267	5	FRMD7	23	131216403	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	8018619	131216403	24054157	50	17842											
KIAA1751	85452	broad.mit.edu	37	1	1900265	1900265	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:1900265C>G	uc001aim.1	-	10	1210	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	KIAA1751_uc009vkz.1_Missense_Mutation_p.E352Q	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	352										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGCTCCTCCTCAAAGGCCCTG	0.597													G	1900265	C	G	1900265	3	3	255	1	0	0	0	0	1	0	0	0	8256	835	29	5	1266	5	KIAA1751	1	1900265	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		1900265	247350356	1	17843											
MMEL1	79258	broad.mit.edu	37	1	2527458	2527458	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:2527458G>A	uc001ajy.2	-	14	1704	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	497					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTTCTCCTGCGCCTTCTTCTT	0.632													A	2527458	G	A	2527458	3	1	255	1	0	0	0	0	1	0	0	0	9646	1087	38	1	889	1	MMEL1	1	2527458	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	627193	2527458	246723163	2	17844											
KLHDC7A	127707	broad.mit.edu	37	1	18809060	18809060	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:18809060G>A	uc001bax.3	+	0	1637	c.1585G>A	c.(1585-1587)Gtg>Atg	p.V529M	KLHDC7A_uc009vpg.3_Missense_Mutation_p.V311M	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	529						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGAGGCCGTGTCCCGGGG	0.662													A	18809060	G	A	18809060	3	1	255	1	0	0	0	0	1	0	0	0	8360	1145	40	1	1587	1	KLHDC7A	1	18809060	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	16281602	18809060	230441561	3	17845											
TXLNA	200081	broad.mit.edu	37	1	32650218	32650218	+	Splice_Site	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:32650218G>A	uc001bui.3	+	4	662	c.597_splice	c.e4+1	p.L199_splice	TXLNA_uc001buj.3_Splice_Site_p.L199_splice	NM_175852	NP_787048	P40222	TXLNA_HUMAN	Homo sapiens taxilin alpha (TXLNA), mRNA.	199					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCTGAACTGGTCAGTTCCCC	0.537													A	32650218	G	A	32650218	5	1	255	1	0	0	0	0	0	0	1	0	16784	1275	44	3	608	3	TXLNA	1	32650218	Splice_Site	SNP	G	TCGA-74-6578-01A-11D-1845-08	13841158	32650218	216600403	4	17846											
EPHA10	284656	broad.mit.edu	37	1	38227170	38227170	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:38227170G>A	uc009vvi.3	-	2	843	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	EPHA10_uc001cbw.4_Missense_Mutation_p.R253C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	253						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGTGCATGCGTGGGGGGCTG	0.692													A	38227170	G	A	38227170	3	1	255	1	0	0	0	0	1	0	0	0	5166	1145	40	1	2367	1	EPHA10	1	38227170	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	5576952	38227170	211023451	5	17847											
MACF1	23499	broad.mit.edu	37	1	39913453	39913453	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:39913453G>A	uc021olw.1	+	46	15180	c.15180G>A	c.(15178-15180)caG>caA	p.Q5060Q	MACF1_uc021ols.1_Silent_p.Q4555Q|MACF1_uc021olt.1_Silent_p.Q4558Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6626					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			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)			GCCAAAAGCAGGATGTTGTTC	0.438													A	39913453	G	A	39913453	2	1	255	1	0	0	0	0	0	0	0	1	9144	991	35	3		3	MACF1	1	39913453	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	1686283	39913453	209337168	6	17848											
SPAG17	200162	broad.mit.edu	37	1	118548128	118548128	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:118548128T>C	uc001ehk.2	-	31	4753	c.4685A>G	c.(4684-4686)aAg>aGg	p.K1562R	SPAG17_uc021osr.1_Missense_Mutation_p.K72R	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1562						cilium|flagellar axoneme|microtubule		p.K1562R(2)		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)		CTGCTCACGCTTTTGAAAAGG	0.448													C	118548128	T	C	118548128	3	2	255	1	0	0	0	0	1	0	0	0	14979	1609	56	4	2054	4	SPAG17	1	118548128	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	78634675	118548128	130702493	7	17849											
HAO2	51179	broad.mit.edu	37	1	119925581	119925581	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:119925581G>T	uc001ehr.1	+	2	307	c.175G>T	c.(175-177)Gac>Tac	p.D59Y	HAO2_uc001ehq.1_Missense_Mutation_p.D59Y	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	59	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.V58V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GTCTGAGGTGGACACCAGAAC	0.552													T	119925581	G	T	119925581	3	4	255	1	0	0	0	0	1	0	0	0	6952	1174	41	5	181	5	HAO2	1	119925581	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	1377453	119925581	129325040	8	17850											
ZNF697	90874	broad.mit.edu	37	1	120165681	120165681	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:120165681G>A	uc001ehy.1	-	2	1399	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAGTGCGTGCGCTTGTGCGTG	0.667													A	120165681	G	A	120165681	3	1	255	1	0	0	0	0	1	0	0	0	18097	1087	38	1	356	1	ZNF697	1	120165681	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	240100	120165681	129084940	9	17851											
NOTCH2	4853	broad.mit.edu	37	1	120512133	120512133	+	Splice_Site	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:120512133C>T	uc001eik.3	-	6	1405	c.1108_splice	c.e6+1	p.G370_splice	NOTCH2_uc001eil.3_Splice_Site_p.G370_splice|NOTCH2_uc021osy.1_Splice_Site_p.G331_splice|NOTCH2_uc001eim.4_Splice_Site_p.G287_splice	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	370	EGF-like 9; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTACCTACCTGCCTTCCC	0.537			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				T	120512133	C	T	120512133	5	4	255	1	0	0	0	0	0	0	1	0	10548	521	18	3	6422	3	NOTCH2	1	120512133	Splice_Site	SNP	C	TCGA-74-6578-01A-11D-1845-08	346452	120512133	128738488	10	17852											
BCL9	607	broad.mit.edu	37	1	147091673	147091673	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:147091673C>G	uc001epq.3	+	7	2452	c.1712C>G	c.(1711-1713)tCt>tGt	p.S571C	BCL9_uc010ozr.1_Missense_Mutation_p.S497C	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	571	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.S571F(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGATAAACTCTGAAATGGAA	0.547			T	"IGH@, IGL@"	B-ALL								G	147091673	C	G	147091673	3	3	255	1	0	0	0	0	1	0	0	0	1381	913	32	5	1730	5	BCL9	1	147091673	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	26579540	147091673	102158948	11	17853											
HRNR	388697	broad.mit.edu	37	1	152193180	152193180	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:152193180G>A	uc001ezt.1	-	2	1001	c.925C>T	c.(925-927)Cac>Tac	p.H309Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	309					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGGACGTGGCTAGGAGAC	0.602													A	152193180	G	A	152193180	3	1	255	1	0	0	0	0	1	0	0	0	7359	1348	47	3	7631	3	HRNR	1	152193180	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	5101507	152193180	97057441	12	17854											
ZBTB7B	51043	broad.mit.edu	37	1	154987218	154987218	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:154987218C>T	uc001fgj.4	+	4	469	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	ZBTB7B_uc009wpa.3_Missense_Mutation_p.R28C|ZBTB7B_uc001fgk.4_Missense_Mutation_p.R28C|ZBTB7B_uc010peq.2_Missense_Mutation_p.R62C|ZBTB7B_uc001fgl.4_Missense_Mutation_p.R28C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	28	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAATGAGCAGCGCCAGCTGGG	0.592													T	154987218	C	T	154987218	3	4	255	1	0	0	0	0	1	0	0	0	17551	768	27	1	84	1	ZBTB7B	1	154987218	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	2794038	154987218	94263403	13	17855											
FAM78B	149297	broad.mit.edu	37	1	166039701	166039701	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:166039701G>A	uc021pef.1	-	1	1036	c.563C>T	c.(562-564)aCc>aTc	p.T188I	FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Intron|FAM78B_uc001gdq.3_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.	188										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CCACTTGATGGTCTGCAGAAT	0.572													A	166039701	G	A	166039701	3	1	255	1	0	0	0	0	1	0	0	0	5627	1261	44	3	226	3	FAM78B	1	166039701	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	11052483	166039701	83210920	14	17856											
URB2	9816	broad.mit.edu	37	1	229772130	229772130	+	Silent	SNP	C	C	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:229772130C>A	uc001hts.1	+	3	1906	c.1770C>A	c.(1768-1770)acC>acA	p.T590T	URB2_uc009xfd.1_Silent_p.T590T	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	590						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCCCGGACACCCCAGGCCCAG	0.597													A	229772130	C	A	229772130	2	1	255	1	0	0	0	0	0	0	0	1	17022	610	22	5		5	URB2	1	229772130	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	63732429	229772130	19478491	15	17857											
PNPT1	87178	broad.mit.edu	37	2	55874482	55874482	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:55874482C>G	uc002rzf.2	-	19	1655	c.1602_splice	c.e19+1	p.L534_splice		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	534					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATATACTTGCCAAAATATCTG	0.308													G	55874482	C	G	55874482	3	3	255	1	0	0	0	0	1	0	0	0	12173	608	21	5	789	5	PNPT1	2	55874482	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		55874482	187324891	16	17858											
SLC5A7	60482	broad.mit.edu	37	2	108625088	108625088	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:108625088G>A	uc002tdv.3	+	7	1339	c.1063G>A	c.(1063-1065)Gca>Aca	p.A355T	SLC5A7_uc010ywm.2_Missense_Mutation_p.A108T|SLC5A7_uc010fjj.3_Missense_Mutation_p.A355T|SLC5A7_uc010ywn.2_Missense_Mutation_p.A242T	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	355					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CATCTTGTCAGCAAGTTCCAT	0.413													A	108625088	G	A	108625088	3	1	255	1	0	0	0	0	1	0	0	0	14670	971	34	3	1089	3	SLC5A7	2	108625088	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	52750606	108625088	134574285	17	17859											
CKAP2L	150468	broad.mit.edu	37	2	113504041	113504041	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:113504041C>A	uc002tie.2	-	5	1793	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	CKAP2L_uc002tif.2_Missense_Mutation_p.D161Y|CKAP2L_uc010yxp.1_Missense_Mutation_p.D407Y	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	572						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CCAATAACATCAAAGGTGCCT	0.373													A	113504041	C	A	113504041	3	1	255	1	0	0	0	0	1	0	0	0	3443	826	29	5	539	5	CKAP2L	2	113504041	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	4878953	113504041	129695332	18	17860											
ABCB11	8647	broad.mit.edu	37	2	169791877	169791877	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:169791877C>T	uc002ueo.1	-	22	2999	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	ABCB11_uc010zda.1_Missense_Mutation_p.R400Q|ABCB11_uc010zdb.1_Missense_Mutation_p.R434Q	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	958	ABC transmembrane type-1 2.		R -> Q.		bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTCAATGAACCGCCTCTCCTT	0.448													T	169791877	C	T	169791877	3	4	255	1	0	0	0	0	1	0	0	0	42	652	23	2	1116	2	ABCB11	2	169791877	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	56287836	169791877	73407496	19	17861											
FZD5	7855	broad.mit.edu	37	2	208632195	208632195	+	Silent	SNP	G	G	A	rs35642228		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:208632195G>A	uc021vvr.1	-	0	1269	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	FZD5_uc002vcj.3_Silent_p.F423F	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	423					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		AGAGCGACACGAAGCCCGCCA	0.637													A	208632195	G	A	208632195	2	1	255	1	0	0	0	0	0	0	0	1	6133	1049	37	2		2	FZD5	2	208632195	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	38840318	208632195	34567178	20	17862											
RBM44	375316	broad.mit.edu	37	2	238727201	238727201	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:238727201G>A	uc002vxi.4	+	2	1774	c.1642G>A	c.(1642-1644)Gtt>Att	p.V548I		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	547							nucleotide binding|RNA binding			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)		ATCTCTCTCCGTTGACAGTTT	0.308													A	238727201	G	A	238727201	3	1	255	1	0	0	0	0	1	0	0	0	13138	1145	40	1	1648	1	RBM44	2	238727201	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	30095006	238727201	4472172	21	17863											
DLEC1	9940	broad.mit.edu	37	3	38153750	38153750	+	Silent	SNP	T	T	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:38153750T>C	uc003chp.1	+	24	3585	c.3564T>C	c.(3562-3564)ccT>ccC	p.P1188P	DLEC1_uc003cho.1_Silent_p.P1188P|DLEC1_uc010hgv.1_Silent_p.P1191P|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.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.	1188					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)		CTTTCTTCCCTCACTTTTCCC	0.572													C	38153750	T	C	38153750	2	2	255	1	0	0	0	0	0	0	0	1	4552	1538	54	4		4	DLEC1	3	38153750	Silent	SNP	T	TCGA-74-6578-01A-11D-1845-08		38153750	159868680	22	17864											
SCN5A	6331	broad.mit.edu	37	3	38591818	38591818	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:38591818G>A	uc021wvo.1	-	26	6097	c.6045C>T	c.(6043-6045)atC>atT	p.I2015I	SCN5A_uc021wvk.1_Silent_p.I1982I|SCN5A_uc021wvl.1_Silent_p.I1961I|SCN5A_uc021wvm.1_Silent_p.I1997I|SCN5A_uc021wvn.1_Silent_p.I2014I|SCN5A_uc021wvp.1_Silent_p.I2015I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1827I|SCN5A_uc021wvi.1_Silent_p.I1881I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	2015					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGCTCACACGATGGACTCAC	0.592													A	38591818	G	A	38591818	2	1	255	1	0	0	0	0	0	0	0	1	13922	1048	37	2		2	SCN5A	3	38591818	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	438068	38591818	159430612	23	17865											
PBRM1	55193	broad.mit.edu	37	3	52598198	52598198	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:52598198T>C	uc003des.2	-	22	3755	c.3743A>G	c.(3742-3744)gAa>gGa	p.E1248G	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.E1248G|PBRM1_uc003der.2_Missense_Mutation_p.E1216G|PBRM1_uc003det.2_Missense_Mutation_p.E1263G|PBRM1_uc003deu.2_Missense_Mutation_p.E1263G|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.E1248G|PBRM1_uc010hmk.1_Missense_Mutation_p.E1223G|PBRM1_uc003dey.2_Missense_Mutation_p.E1223G|PBRM1_uc003dez.1_Missense_Mutation_p.E1247G	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1248	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTGGTATTTCAGTTGGCCT	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								C	52598198	T	C	52598198	3	2	255	1	0	0	0	0	1	0	0	0	11491	1783	62	4	1189	4	PBRM1	3	52598198	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	14006380	52598198	145424232	24	17866											
UBA3	9039	broad.mit.edu	37	3	69120763	69120763	+	Silent	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:69120763C>T	uc003dno.3	-	4	290	c.270G>A	c.(268-270)ttG>ttA	p.L90L	UBA3_uc003dnq.3_Silent_p.L76L|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_Intron	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	90					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TAAAACCAGACAAGGCCTGTG	0.313													T	69120763	C	T	69120763	2	4	255	1	0	0	0	0	0	0	0	1	16826	477	17	3		3	UBA3	3	69120763	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	16522565	69120763	128901667	25	17867											
SENP7	57337	broad.mit.edu	37	3	101080632	101080632	+	Missense_Mutation	SNP	T	T	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:101080632T>G	uc003dut.3	-	10	1661	c.1550A>C	c.(1549-1551)gAt>gCt	p.D517A	SENP7_uc003duu.3_Missense_Mutation_p.D452A|SENP7_uc003duv.3_Missense_Mutation_p.D484A|SENP7_uc003duw.3_Missense_Mutation_p.D451A|SENP7_uc003dux.3_Missense_Mutation_p.D353A	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	517					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGTTGTAGATCCATCTCATT	0.289													G	101080632	T	G	101080632	3	3	255	1	0	0	0	0	1	0	0	0	14051	1435	50	5	1658	5	SENP7	3	101080632	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	31959869	101080632	96941798	26	17868											
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:178936092A>C	uc003fjk.3	+	9	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.E545A(192)|p.E545G(157)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.E545V(10)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178936092	A	C	178936092	3	2	255	1	0	0	0	0	1	0	0	0	11913	304	11	5	1668	5	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	77855460	178936092	19086338	27	17869											
TTC14	151613	broad.mit.edu	37	3	180321035	180321035	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:180321035G>A	uc003fkk.3	+	2	542	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	TTC14_uc003fkl.3_Missense_Mutation_p.R137Q|TTC14_uc003fkm.2_Missense_Mutation_p.R137Q	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	137	S1 motif.						RNA binding	p.R137Q(2)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTCTATTCGGGAATTCGGT	0.373													A	180321035	G	A	180321035	3	1	255	1	0	0	0	0	1	0	0	0	16678	1116	39	2	420	2	TTC14	3	180321035	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	1384943	180321035	17701395	28	17870											
ACAP2	23527	broad.mit.edu	37	3	195015481	195015481	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:195015481A>G	uc003fun.4	-	17	1973	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	578					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GACACCGTGGAGGGTAAAGAT	0.368													G	195015481	A	G	195015481	3	3	255	1	0	0	0	0	1	0	0	0	119	304	11	4	628	4	ACAP2	3	195015481	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	14694446	195015481	3006949	29	17871											
TLR6	10333	broad.mit.edu	37	4	38830189	38830189	+	Silent	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:38830189C>T	uc010ifg.2	-	1	1027	c.906G>A	c.(904-906)acG>acA	p.T302T	TLR6_uc003gtm.3_Silent_p.T302T	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	302					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTCAATGTCGTTTTAGAAT	0.318													T	38830189	C	T	38830189	2	4	255	1	0	0	0	0	0	0	0	1	15952	871	31	2		2	TLR6	4	38830189	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08		38830189	152324087	30	17872											
CENPC1	1060	broad.mit.edu	37	4	68396616	68396616	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:68396616G>A	uc003hdd.1	-	4	431	c.248C>T	c.(247-249)cCa>cTa	p.P83L	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.P83L	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	83					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						AACTGACTTTGGATGTGATTT	0.363													A	68396616	G	A	68396616	3	1	255	1	0	0	0	0	1	0	0	0	3229	1348	47	3	2643	3	CENPC1	4	68396616	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	29566427	68396616	122757660	31	17873											
UGT2B7	7364	broad.mit.edu	37	4	69978432	69978432	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:69978432C>G	uc003heg.4	+	5	1614	c.1568C>G	c.(1567-1569)gCa>gGa	p.A523G	UGT2B7_uc010ihq.3_3'UTR	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	523					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTAGAAAAGCAAAGAAGGGA	0.378													G	69978432	C	G	69978432	3	3	255	1	0	0	0	0	1	0	0	0	16959	710	25	5	1590	5	UGT2B7	4	69978432	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	1581816	69978432	121175844	32	17874											
SHROOM3	57619	broad.mit.edu	37	4	77660381	77660381	+	Missense_Mutation	SNP	G	G	A	rs146652221	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:77660381G>A	uc011cbx.2	+	4	2008	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	SHROOM3_uc011cbz.1_Missense_Mutation_p.R176Q|SHROOM3_uc003hkf.1_Missense_Mutation_p.R227Q|SHROOM3_uc003hkg.3_Missense_Mutation_p.R130Q	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	352					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			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)			AATATTCCTCGGGGCAAGGGA	0.582													A	77660381	G	A	77660381	3	1	255	1	0	0	0	0	1	0	0	0	14295	1116	39	2	1073	2	SHROOM3	4	77660381	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	7681949	77660381	113493895	33	17875											
FRAS1	80144	broad.mit.edu	37	4	79351554	79351554	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:79351554G>A	uc003hlb.2	+	36	5392	c.4952G>A	c.(4951-4953)cGa>cAa	p.R1651Q	FRAS1_uc003hkw.3_Missense_Mutation_p.R1651Q|FRAS1_uc010ijj.2_Missense_Mutation_p.R71Q	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1650					cell communication	integral to membrane|plasma membrane	metal ion binding			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						GCTGAGTTCCGAAGGCCGATG	0.493													A	79351554	G	A	79351554	3	1	255	1	0	0	0	0	1	0	0	0	6042	1058	37	2	5098	2	FRAS1	4	79351554	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	1691173	79351554	111802722	34	17876											
ANK2	287	broad.mit.edu	37	4	114262932	114262932	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:114262932G>A	uc003ibe.4	+	32	4082	c.3982G>A	c.(3982-3984)Gcc>Acc	p.A1328T	ANK2_uc003ibd.4_Missense_Mutation_p.A1319T|ANK2_uc003ibf.4_Missense_Mutation_p.A1328T|ANK2_uc011cgc.2_Missense_Mutation_p.A504T|ANK2_uc003ibg.4_Missense_Mutation_p.A323T|ANK2_uc003ibh.4_Missense_Mutation_p.A2T|ANK2_uc011cgb.1_Missense_Mutation_p.A1343T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1295					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			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)		ACCTTATATGGCCAAATTTGT	0.393													A	114262932	G	A	114262932	3	1	255	1	0	0	0	0	1	0	0	0	621	1203	42	3	4177	3	ANK2	4	114262932	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	34911378	114262932	76891344	35	17877											
RGNEF	64283	broad.mit.edu	37	5	73128174	73128174	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr5:73128174G>A	uc010izf.3	+	9	1212	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	RGNEF_uc011csq.2_Missense_Mutation_p.D346N|RGNEF_uc003kcy.1_Missense_Mutation_p.D346N|RGNEF_uc021yam.1_Missense_Mutation_p.D346N|RGNEF_uc011csr.2_Missense_Mutation_p.D33N	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	346					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TCGCTCCTTCGATATCCTAAA	0.423													A	73128174	G	A	73128174	3	1	255	1	0	0	0	0	1	0	0	0	13283	1058	37	2	1070	2	RGNEF	5	73128174	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		73128174	107787086	36	17878											
SLC36A2	153201	broad.mit.edu	37	5	150726999	150726999	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr5:150726999T>A	uc003lty.3	-	0	153	c.23A>T	c.(22-24)gAg>gTg	p.E8V	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.E8V|SLC36A2_uc011dct.1_Missense_Mutation_p.E8V	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	8					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGGACCCTCAGTACTTTT	0.493													A	150726999	T	A	150726999	3	1	255	1	0	0	0	0	1	0	0	0	14594	1551	54	5	1468	5	SLC36A2	5	150726999	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	77598825	150726999	30188261	37	17879											
DSP	1832	broad.mit.edu	37	6	7575560	7575560	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:7575560G>A	uc003mxp.1	+	17	2748	c.2469G>A	c.(2467-2469)tcG>tcA	p.S823S	DSP_uc003mxq.1_Silent_p.S823S|DSP_uc021yle.1_Silent_p.S823S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	823	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAGAAGTCGTTGTTGGCCA	0.393													A	7575560	G	A	7575560	2	1	255	1	0	0	0	0	0	0	0	1	4781	1132	40	1		1	DSP	6	7575560	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08		7575560	163539507	38	17880											
RHAG	6005	broad.mit.edu	37	6	49582542	49582542	+	Missense_Mutation	SNP	C	C	A	rs77467572		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:49582542C>A	uc003ozk.4	-	4	727	c.665G>T	c.(664-666)tGg>tTg	p.W222L	RHAG_uc010jzl.3_Missense_Mutation_p.W222L|RHAG_uc010jzm.3_Missense_Mutation_p.W222L	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	222					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAAGCTGGGCCAAAACATCCA	0.463													A	49582542	C	A	49582542	3	1	255	1	0	0	0	0	1	0	0	0	13315	595	21	5	588	5	RHAG	6	49582542	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	42006982	49582542	121532525	39	17881											
COL9A1	1297	broad.mit.edu	37	6	70961988	70961988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:70961988G>A	uc003pfg.4	-	26	1954	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	COL9A1_uc003pfe.4_Nonsense_Mutation_p.Q172*|COL9A1_uc003pff.4_Nonsense_Mutation_p.Q356*	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	599	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G598C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TTTCCCATCTGACCAGGCTTC	0.423													A	70961988	G	A	70961988	4	1	255	1	0	0	0	0	0	1	0	0	3707	1299	45	3	1018	3	COL9A1	6	70961988	Nonsense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	21379446	70961988	100153079	40	17882											
COL1A2	1278	broad.mit.edu	37	7	94039079	94039079	+	Silent	SNP	C	C	T	rs141762645	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr7:94039079C>T	uc003ung.1	+	18	1452	c.981C>T	c.(979-981)cgC>cgT	p.R327R	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	327					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGACCCCGCGGTATTCCTG	0.592										HNSCC(75;0.22)			T	94039079	C	T	94039079	2	4	255	1	0	0	0	0	0	0	0	1	3678	755	27	1		1	COL1A2	7	94039079	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08		94039079	65099584	41	17883											
CNTNAP2	26047	broad.mit.edu	37	7	146536869	146536869	+	Missense_Mutation	SNP	G	G	A	rs138924087		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr7:146536869G>A	uc003weu.2	+	2	791	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	92	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R92Q(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTGGCAATCGGAAGCAGATC	0.502										HNSCC(39;0.1)			A	146536869	G	A	146536869	3	1	255	1	0	0	0	0	1	0	0	0	3647	1116	39	2	285	2	CNTNAP2	7	146536869	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	52497790	146536869	12601794	42	17884											
DOCK5	80005	broad.mit.edu	37	8	25220568	25220568	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:25220568C>A	uc003xeg.3	+	28	3092	c.2955C>A	c.(2953-2955)ttC>ttA	p.F985L	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.F699L|DOCK5_uc003xei.3_Missense_Mutation_p.F555L|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	985						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CGCAGGACTTCCTCATGGAAA	0.443													A	25220568	C	A	25220568	3	1	255	1	0	0	0	0	1	0	0	0	4690	854	30	5	3069	5	DOCK5	8	25220568	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		25220568	121143454	43	17885											
FNTA	2339	broad.mit.edu	37	8	42939877	42939877	+	Silent	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:42939877C>T	uc003xps.3	+	7	918	c.870C>T	c.(868-870)tcC>tcT	p.S290S	FNTA_uc003xpt.3_Silent_p.S199S|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	290					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GTGGTCTTTCCAAATATCCTA	0.343													T	42939877	C	T	42939877	2	4	255	1	0	0	0	0	0	0	0	1	5977	581	21	3		3	FNTA	8	42939877	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	17719309	42939877	103424145	44	17886											
SPAG1	6674	broad.mit.edu	37	8	101203698	101203698	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:101203698G>A	uc003yjh.2	+	8	999	c.913G>A	c.(913-915)Gtt>Att	p.V305I	SPAG1_uc003yjg.1_Missense_Mutation_p.V305I|SPAG1_uc003yji.2_Missense_Mutation_p.V305I	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	305					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGTACTAGATGTTGAGCCTGA	0.348													A	101203698	G	A	101203698	3	1	255	1	0	0	0	0	1	0	0	0	14975	1377	48	3	943	3	SPAG1	8	101203698	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	58263821	101203698	45160324	45	17887											
FER1L6	654463	broad.mit.edu	37	8	125131869	125131869	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:125131869G>A	uc003yqw.3	+	40	5618	c.5412G>A	c.(5410-5412)tcG>tcA	p.S1804S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1804						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)			CCTCCTTTTCGTGGTTCATGA	0.458													A	125131869	G	A	125131869	2	1	255	1	0	0	0	0	0	0	0	1	5815	1132	40	1		1	FER1L6	8	125131869	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	23928171	125131869	21232153	46	17888											
PLEC	5339	broad.mit.edu	37	8	144992335	144992335	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:144992335A>G	uc003zaf.1	-	31	12235	c.12065T>C	c.(12064-12066)tTc>tCc	p.F4022S	PLEC_uc003zab.1_Missense_Mutation_p.F3885S|PLEC_uc003zac.1_Missense_Mutation_p.F3889S|PLEC_uc003zad.2_Missense_Mutation_p.F3885S|PLEC_uc003zae.1_Missense_Mutation_p.F3853S|PLEC_uc003zag.1_Missense_Mutation_p.F3863S|PLEC_uc003zah.2_Missense_Mutation_p.F3871S|PLEC_uc003zaj.2_Missense_Mutation_p.F3912S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4022	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGCCACGGAAGGTCAGCTT	0.692													G	144992335	A	G	144992335	3	3	255	1	0	0	0	0	1	0	0	0	12052	246	9	4	1993	4	PLEC	8	144992335	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	19860466	144992335	1371687	47	17889											
GLDC	2731	broad.mit.edu	37	9	6592871	6592871	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:6592871G>A	uc003zkc.3	-	9	1574	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	461					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCAAAAAGCCGAAAATTGATC	0.403													A	6592871	G	A	6592871	3	1	255	1	0	0	0	0	1	0	0	0	6433	1057	37	2	1745	2	GLDC	9	6592871	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		6592871	134620560	48	17890											
PAX5	5079	broad.mit.edu	37	9	37020754	37020754	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:37020754G>A	uc003zzo.1	-	1	539	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PAX5_uc011lqc.1_Missense_Mutation_p.R31W|PAX5_uc010mlr.1_Missense_Mutation_p.R31W|PAX5_uc011lpw.1_Missense_Mutation_p.R31W|PAX5_uc011lpx.1_Missense_Mutation_p.R31W|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R31W|PAX5_uc011lpz.1_Missense_Mutation_p.R31W|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.R31W|PAX5_uc010mlp.1_Missense_Mutation_p.R31W|PAX5_uc011lqd.1_Missense_Mutation_p.R30W|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	31	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	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)		GGGAGTGGCCGTCCATTCACA	0.522			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								A	37020754	G	A	37020754	3	1	255	1	0	0	0	0	1	0	0	0	11482	1144	40	1	1120	1	PAX5	9	37020754	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	30427883	37020754	104192677	49	17891											
CYLC2	1539	broad.mit.edu	37	9	105767035	105767035	+	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:105767035delC	uc004bbs.2	+	3	309	c.239delC	c.(238-240)tctfs	p.S80fs		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	80	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATGTACCGTTCTTTAATGAGA	0.398													-	105767035	C	-	105767035	7	5	255	1	0	1	0	1	0	0	0	0	4142	913	32	0	253	0	CYLC2	9	105767035	Frame_Shift_Del	DEL	C	TCGA-74-6578-01A-11D-1845-08	68746281	105767035	35446396	50	17892											
NOXA1	10811	broad.mit.edu	37	9	140327980	140327980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:140327980C>T	uc004cmu.3	+	10	1120	c.985C>T	c.(985-987)Cga>Tga	p.R329*	NOXA1_uc004cmv.3_Nonsense_Mutation_p.R329*|NOXA1_uc010nch.3_Nonsense_Mutation_p.R273*	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	329	OPR.		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).	R -> G (in Ref. 6; AAC18046).	regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CCTGAGGGCACGAAGAGGAGC	0.701													T	140327980	C	T	140327980	4	4	255	1	0	0	0	0	0	1	0	0	10560	528	19	1	1027	1	NOXA1	9	140327980	Nonsense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	34560945	140327980	885451	51	17893											
ZNF365	22891	broad.mit.edu	37	10	64415230	64415230	+	Missense_Mutation	SNP	G	G	A	rs41306564		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr10:64415230G>A	uc001jmc.2	+						ZNF365_uc001jmd.1_Missense_Mutation_p.R77H|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.											breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAGTTTGGCGTTGGCAGTCA	0.507													A	64415230	G	A	64415230	3	1	255	1	0	0	0	0	1	0	0	0	17866	1145	40	1	1718	1	ZNF365	10	64415230	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		64415230	71119517	52	17894											
SMC3	9126	broad.mit.edu	37	10	112350849	112350851	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr10:112350849_112350851delAAC	uc001kze.3	+	16	1897_1899	c.1771_1773delAAC	c.(1771-1773)aacdel	p.N591del		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	591	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TCTGCCTCTTAACAAGTTAGATG	0.325													-	112350851	AAC	-	112350849	7	5	255	1	0	1	0	1	0	0	0	0	14784	362	13	0	1837	0	SMC3	10	112350849	In_Frame_Del	DEL	AAC	TCGA-74-6578-01A-11D-1845-08	47935619	112350849	23183898	53	17895											
HPX	3263	broad.mit.edu	37	11	6462111	6462111	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:6462111G>A	uc001mdg.2	-	1	144	c.83_splice	c.e1+1	p.P28_splice	HPX_uc009yfc.2_Splice_Site|HPX_uc010rai.1_Splice_Site_p.P28_splice	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	28	O-glycosylated at one, two and three sites.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			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)		CTTTACTCACGGAGGAAGAGG	0.572													A	6462111	G	A	6462111	3	1	255	1	0	0	0	0	1	0	0	0	7346	1130	39	2	1345	2	HPX	11	6462111	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		6462111	128544405	54	17896											
DHCR7	1717	broad.mit.edu	37	11	71146770	71146770	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:71146770A>T	uc001oqk.3	-	8	1329	c.1079T>A	c.(1078-1080)cTg>cAg	p.L360Q	DHCR7_uc001oql.3_Missense_Mutation_p.L360Q	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	360					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCGGCGGAACAGGTCCTTCTG	0.662									Smith-Lemli-Opitz syndrome				T	71146770	A	T	71146770	3	4	255	1	0	0	0	0	1	0	0	0	4477	188	7	5	352	5	DHCR7	11	71146770	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	64684659	71146770	63859746	55	17897											
C11orf67	28971	broad.mit.edu	37	11	77580777	77580777	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:77580777G>A	uc001oyq.3	+	2	240	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	C11orf67_uc001oyp.3_Missense_Mutation_p.G48S|C11orf67_uc001oyr.1_Missense_Mutation_p.G48S	NM_024684	NP_078960	Q9H7C9	CK067_HUMAN	Homo sapiens chromosome 11 open reading frame 67 (C11orf67), mRNA.	48										stomach(2)	2	all_cancers(14;5.69e-19)|all_epithelial(13;2.15e-21)|Breast(9;1.16e-15)|Ovarian(111;0.152)		Epithelial(5;1.37e-49)|all cancers(3;5.58e-46)|BRCA - Breast invasive adenocarcinoma(5;7.26e-31)			GCATTCTCCTGGTGTGCAGCC	0.458													A	77580777	G	A	77580777	3	1	255	1	0	0	0	0	1	0	0	0	1657	1348	47	3	148	3	C11orf67	11	77580777	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	6434007	77580777	57425739	56	17898											
NCAPD3	23310	broad.mit.edu	37	11	134048751	134048751	+	Silent	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:134048751C>T	uc001qhd.1	-	20	3246	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	880					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCAGGACGGACTGAATCAGAA	0.468													T	134048751	C	T	134048751	2	4	255	1	0	0	0	0	0	0	0	1	10206	564	20	3		3	NCAPD3	11	134048751	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	56467974	134048751	957765	57	17899											
PLBD1	79887	broad.mit.edu	37	12	14695158	14695158	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:14695158C>T	uc001rcc.1	-	2	564	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	135					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						AAATCCTGCACTTTATCCATG	0.343													T	14695158	C	T	14695158	3	4	255	1	0	0	0	0	1	0	0	0	12025	565	20	3	1294	3	PLBD1	12	14695158	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		14695158	119156737	58	17900											
ABCC9	10060	broad.mit.edu	37	12	21997449	21997449	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:21997449G>A	uc001rfh.3	-	25	3303	c.3283C>T	c.(3283-3285)Cgc>Tgc	p.R1095C	ABCC9_uc001rfi.1_Missense_Mutation_p.R1095C	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1095	ABC transmembrane type-1 2.				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			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)	GCTGAAAAGCGATTGAGAATC	0.353													A	21997449	G	A	21997449	3	1	255	1	0	0	0	0	1	0	0	0	59	1058	37	2	1560	2	ABCC9	12	21997449	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	7302291	21997449	111854446	59	17901											
PKP2	5318	broad.mit.edu	37	12	32977045	32977045	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:32977045G>A	uc001rlj.4	-	7	1855	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	PKP2_uc001rlk.4_Silent_p.D536D|PKP2_uc010skj.2_Silent_p.D536D	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	580					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAATGAGTCCGTCACATCTTC	0.398													A	32977045	G	A	32977045	2	1	255	1	0	0	0	0	0	0	0	1	11985	1136	40	1		1	PKP2	12	32977045	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	10979596	32977045	100874850	60	17902											
GRIP1	23426	broad.mit.edu	37	12	66786464	66786464	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:66786464C>G	uc001stk.3	-	16	2347	c.2106G>C	c.(2104-2106)caG>caC	p.Q702H	GRIP1_uc010sta.1_Missense_Mutation_p.Q646H|GRIP1_uc001stj.3_Missense_Mutation_p.Q484H|GRIP1_uc001stm.3_Missense_Mutation_p.Q702H|GRIP1_uc001stl.1_Missense_Mutation_p.Q594H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	754	PDZ 6.				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			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)		CACCATCTGTCTGTTTCTTAA	0.413													G	66786464	C	G	66786464	3	3	255	1	0	0	0	0	1	0	0	0	6787	912	32	5	1156	5	GRIP1	12	66786464	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	33809419	66786464	67065431	61	17903											
USP30	84749	broad.mit.edu	37	12	109509449	109509449	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:109509449G>A	uc010sxi.2	+	4	617	c.513G>A	c.(511-513)tcG>tcA	p.S171S	USP30_uc001tnu.4_Silent_p.S140S	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	171					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCATTACCTCGTCATTGGAAG	0.463													A	109509449	G	A	109509449	2	1	255	1	0	0	0	0	0	0	0	1	17058	1132	40	1		1	USP30	12	109509449	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	42722985	109509449	24342446	62	17904											
TMEM120B	144404	broad.mit.edu	37	12	122209423	122209423	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:122209423G>A	uc001ubc.4	+	7	791	c.647G>A	c.(646-648)cGc>cAc	p.R216H	TMEM120B_uc009zxh.3_Missense_Mutation_p.R216H	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.	216						integral to membrane		p.R216C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CAGAAGTTTCGCAACCAGTTC	0.488													A	122209423	G	A	122209423	3	1	255	1	0	0	0	0	1	0	0	0	16031	1087	38	1	677	1	TMEM120B	12	122209423	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	12699974	122209423	11642472	63	17905											
LAMP1	3916	broad.mit.edu	37	13	113964010	113964010	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr13:113964010C>A	uc001vtm.1	+	2	517	c.236C>A	c.(235-237)tCc>tAc	p.S79Y	LAMP1_uc010tka.1_Missense_Mutation_p.S79Y	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	79	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AACCGCAGCTCCTGTGGAAAA	0.443													A	113964010	C	A	113964010	3	1	255	1	0	0	0	0	1	0	0	0	8617	855	30	5	246	5	LAMP1	13	113964010	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		113964010	1205868	64	17906											
OR4K1	79544	broad.mit.edu	37	14	20404274	20404274	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr14:20404274C>T	uc001vwj.2	+	0	508	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A150A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATTTCCTGGGCGGTGGGCGTT	0.463													T	20404274	C	T	20404274	3	4	255	1	0	0	0	0	1	0	0	0	11067	768	27	1	451	1	OR4K1	14	20404274	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		20404274	86945266	65	17907											
TGM5	9333	broad.mit.edu	37	15	43525396	43525396	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr15:43525396G>A	uc001zrd.2	-	12	2164	c.2156C>T	c.(2155-2157)gCa>gTa	p.A719V	TGM5_uc001zrc.2_Missense_Mutation_p.A376V|TGM5_uc001zre.2_Missense_Mutation_p.A637V	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	719					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AATTTATAATGCAAAGTCTAC	0.438													A	43525396	G	A	43525396	3	1	255	1	0	0	0	0	1	0	0	0	15830	1319	46	3	10	3	TGM5	15	43525396	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		43525396	59005996	66	17908											
BTBD1	53339	broad.mit.edu	37	15	83725179	83725179	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr15:83725179G>A	uc002bjn.3	-	1	723	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	BTBD1_uc002bjo.3_Missense_Mutation_p.H174Y	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	174						cytoplasmic mRNA processing body|protein complex	protein binding	p.H174D(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GCCCTAAGATGTTTGGTGAGA	0.363													A	83725179	G	A	83725179	3	1	255	1	0	0	0	0	1	0	0	0	1537	1377	48	3	956	3	BTBD1	15	83725179	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	40199783	83725179	18806213	67	17909											
PKD1	5310	broad.mit.edu	37	16	2155892	2155892	+	Silent	SNP	A	A	G	rs149467954	by1000genomes	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:2155892A>G	uc002cos.1	-	19	8046	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.L2613L|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2613	REJ.		Missing (in ADPKD1; could be a polymorphism).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.L2613L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657													G	2155892	A	G	2155892	2	3	255	1	0	0	0	0	0	0	0	1	11963	40	2	4		4	PKD1	16	2155892	Silent	SNP	A	TCGA-74-6578-01A-11D-1845-08		2155892	88198861	68	17910											
DNAH3	55567	broad.mit.edu	37	16	20999316	20999316	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:20999316T>A	uc010vbe.2	-	44	6673	c.6673A>T	c.(6673-6675)Agt>Tgt	p.S2225C	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2225	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAATCGAACTGAAAATCTTG	0.428													A	20999316	T	A	20999316	3	1	255	1	0	0	0	0	1	0	0	0	4603	1580	55	5	5748	5	DNAH3	16	20999316	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	18843424	20999316	69355437	69	17911											
KCTD19	146212	broad.mit.edu	37	16	67327795	67327795	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:67327795T>C	uc002esu.2	-	11	1921	c.1870A>G	c.(1870-1872)Acc>Gcc	p.T624A	KCTD19_uc002est.2_Missense_Mutation_p.T396A|KCTD19_uc010vjj.1_Missense_Mutation_p.T367A	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	624						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E623K(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGTCTTTGGTTTCAGATTTC	0.532													C	67327795	T	C	67327795	3	2	255	1	0	0	0	0	1	0	0	0	8106	1725	60	4	930	4	KCTD19	16	67327795	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	46328479	67327795	23026958	70	17912											
SGSM2	9905	broad.mit.edu	37	17	2276367	2276367	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:2276367A>G	uc002fum.4	+	15	2086	c.1909A>G	c.(1909-1911)Atg>Gtg	p.M637V	SGSM2_uc002fun.4_Missense_Mutation_p.M592V|SGSM2_uc010vqw.2_Missense_Mutation_p.M592V|SGSM2_uc002fuo.2_3'UTR	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	592	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAAGAAGGAGATGGAGCAGGT	0.617													G	2276367	A	G	2276367	3	3	255	1	0	0	0	0	1	0	0	0	14223	333	12	4	1971	4	SGSM2	17	2276367	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08		2276367	78918843	71	17913											
UNC45B	146862	broad.mit.edu	37	17	33491149	33491149	+	Missense_Mutation	SNP	G	G	A	rs143612410		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:33491149G>A	uc002hja.3	+	8	1212	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	UNC45B_uc002hjb.3_Missense_Mutation_p.R372H|UNC45B_uc002hjc.3_Missense_Mutation_p.R372H|UNC45B_uc010cto.3_Missense_Mutation_p.R372H	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	372					cell differentiation|muscle organ development	cytosol	binding	p.R372C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GACCCGGAGCGCGATCACTTC	0.532													A	33491149	G	A	33491149	3	1	255	1	0	0	0	0	1	0	0	0	16986	1087	38	1	1145	1	UNC45B	17	33491149	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	31214782	33491149	47704061	72	17914											
KIF2B	84643	broad.mit.edu	37	17	51900723	51900723	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:51900723G>A	uc002iua.2	+	0	485	c.329G>A	c.(328-330)cGt>cAt	p.R110H	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	110					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.R110C(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGGACCAGCGTACCGCCACG	0.607													A	51900723	G	A	51900723	3	1	255	1	0	0	0	0	1	0	0	0	8298	1145	40	1	331	1	KIF2B	17	51900723	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	18409574	51900723	29294487	73	17915											
ENPP7	339221	broad.mit.edu	37	17	77708908	77708908	+	Missense_Mutation	SNP	C	C	T	rs142610423		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:77708908C>T	uc002jxa.3	+	2	486	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	156					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGTGACGCGGAGCCGGAA	0.592													T	77708908	C	T	77708908	3	4	255	1	0	0	0	0	1	0	0	0	5135	759	27	1	476	1	ENPP7	17	77708908	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	25808185	77708908	3486302	74	17916											
C17orf70	80233	broad.mit.edu	37	17	79516305	79516305	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:79516305C>G	uc002kaq.3	-	3	1403	c.1330G>C	c.(1330-1332)Gcc>Ccc	p.A444P	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.A293P	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	444					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTCATCCTGGCTGGGCCAGGC	0.592													G	79516305	C	G	79516305	3	3	255	1	0	0	0	0	1	0	0	0	1877	797	28	5	1339	5	C17orf70	17	79516305	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	1807397	79516305	1678905	75	17917											
ZNF556	80032	broad.mit.edu	37	19	2877392	2877392	+	Missense_Mutation	SNP	C	C	T	rs138176298	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:2877392C>T	uc002lwp.1	+	3	523	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ZNF556_uc002lwq.3_Missense_Mutation_p.R145W	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	146			R -> L (in dbSNP:rs35499960).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R146R(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TAGTGTAAGACGGTACGAATG	0.393													T	2877392	C	T	2877392	3	4	255	1	0	0	0	0	1	0	0	0	17984	527	19	1	450	1	ZNF556	19	2877392	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		2877392	56251591	76	17918											
MUC16	94025	broad.mit.edu	37	19	9047753	9047753	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:9047753G>A	uc002mkp.3	-	4	34082	c.33878C>T	c.(33877-33879)cCt>cTt	p.P11293L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11295	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						GACTGTAGAAGGCATAGTGTC	0.473													A	9047753	G	A	9047753	3	1	255	1	0	0	0	0	1	0	0	0	9973	1000	35	3	9965	3	MUC16	19	9047753	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	6170361	9047753	50081230	77	17919											
SLC1A6	6511	broad.mit.edu	37	19	15082585	15082585	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:15082585G>T	uc002naa.1	-	1	314	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	SLC1A6_uc010dzu.1_Missense_Mutation_p.L103M|SLC1A6_uc010xod.1_Missense_Mutation_p.A107D|SLC1A6_uc002nab.3_Missense_Mutation_p.L103M|SLC1A6_uc002nac.3_Missense_Mutation_p.L103M|SLC1A6_uc002nad.1_Missense_Mutation_p.L103M	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	103					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGTAACACCAGCATCTGCAGC	0.567													T	15082585	G	T	15082585	3	4	255	1	0	0	0	0	1	0	0	0	14436	962	34	5	1419	5	SLC1A6	19	15082585	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	6034832	15082585	44046398	78	17920											
CILP2	148113	broad.mit.edu	37	19	19655518	19655518	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:19655518C>T	uc002nmw.4	+	7	2267	c.2182C>T	c.(2182-2184)Cgg>Tgg	p.R728W	CILP2_uc002nmv.4_Missense_Mutation_p.R722W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	722						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGTGGAGATCCGGGAGCGGCG	0.706													T	19655518	C	T	19655518	3	4	255	1	0	0	0	0	1	0	0	0	3430	643	23	2	2194	2	CILP2	19	19655518	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	4572933	19655518	39473465	79	17921											
FGF21	26291	broad.mit.edu	37	19	49261318	49261318	+	Silent	SNP	A	A	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:49261318A>C	uc002pkn.1	+	3	1043	c.471A>C	c.(469-471)gcA>gcC	p.A157A	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.A157A	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	157					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGACCCTGCACCCCGAGGAC	0.682													C	49261318	A	C	49261318	2	2	255	1	0	0	0	0	0	0	0	1	5850	146	6	5		5	FGF21	19	49261318	Silent	SNP	A	TCGA-74-6578-01A-11D-1845-08	29605800	49261318	9867665	80	17922											
PTOV1	53635	broad.mit.edu	37	19	50360994	50360996	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:50360994_50360996delCAA	uc002pqf.1	+	6	929_931	c.759_761delCAA	c.(757-762)gtcaac>gtc	p.N255del	PTOV1_uc002pqb.4_In_Frame_Del_p.N223del|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	255	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCCAGATCGTCAACAACAAGTTT	0.616													-	50360996	CAA	-	50360994	7	5	255	1	0	1	0	1	0	0	0	0	12769	813	29	0	785	0	PTOV1	19	50360994	In_Frame_Del	DEL	CAA	TCGA-74-6578-01A-11D-1845-08	1099676	50360994	8767989	81	17923											
LILRB5	10990	broad.mit.edu	37	19	54758761	54758761	+	Silent	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:54758761C>T	uc010yer.1	-	5	1176	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.P364P|LILRB5_uc002qez.3_Silent_p.P264P|LILRB5_uc002qex.3_Silent_p.P364P|LILRB5_uc002qfa.1_Silent_p.P254P|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	364	Ig-like C2-type 4.			L -> S (in Ref. 2; BAB71361).	cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTAGACACAGCGGGGGATGGG	0.547													T	54758761	C	T	54758761	2	4	255	1	0	0	0	0	0	0	0	1	8794	755	27	1		1	LILRB5	19	54758761	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	4397767	54758761	4370222	82	17924											
TNNT1	7138	broad.mit.edu	37	19	55648558	55648558	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:55648558C>T	uc002qjb.4	-	10	613	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	TNNT1_uc002qjc.4_Missense_Mutation_p.R175Q|TNNT1_uc002qje.4_Missense_Mutation_p.R164Q|TNNT1_uc002qjd.4_Missense_Mutation_p.R164Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	175					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CCCCGTCTGCCGCTTACCACG	0.627													T	55648558	C	T	55648558	3	4	255	1	0	0	0	0	1	0	0	0	16327	652	23	2	328	2	TNNT1	19	55648558	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	889797	55648558	3480425	83	17925											
SNRPB2	6629	broad.mit.edu	37	20	16721056	16721056	+	Silent	SNP	T	T	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:16721056T>C	uc002wph.2	+	5	752	c.516T>C	c.(514-516)aaT>aaC	p.N172N	SNRPB2_uc002wpi.2_Silent_p.N172N	NM_003092	NP_937863	P08579	RU2B_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA.	172	RRM 2.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						TGCTGTTTAATCAGTAAGTTT	0.348													C	16721056	T	C	16721056	2	2	255	1	0	0	0	0	0	0	0	1	14862	1432	50	4		4	SNRPB2	20	16721056	Silent	SNP	T	TCGA-74-6578-01A-11D-1845-08		16721056	46304464	84	17926											
NKX2-4	644524	broad.mit.edu	37	20	21377636	21377636	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:21377636G>A	uc010gcz.3	-	0	412	c.402C>T	c.(400-402)acC>acT	p.T134T		NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN	Homo sapiens NK2 homeobox 4 (NKX2-4), mRNA.	134					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						CGTACCAGCCGGTGGCCGCGC	0.736													A	21377636	G	A	21377636	2	1	255	1	0	0	0	0	0	0	0	1	10452	1103	39	2		2	NKX2-4	20	21377636	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	4656580	21377636	41647884	85	17927											
CST9	128822	broad.mit.edu	37	20	23584188	23584188	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:23584188C>T	uc002wtl.3	-	1	548	c.439G>A	c.(439-441)Gga>Aga	p.G147R		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	147						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TCAGCTGCTCCTGTGCCCACA	0.577													T	23584188	C	T	23584188	3	4	255	1	0	0	0	0	1	0	0	0	3979	690	24	3	44	3	CST9	20	23584188	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	2206552	23584188	39441332	86	17928											
TPTE	7179	broad.mit.edu	37	21	10906911	10906911	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr21:10906911G>A	uc002yip.1	-	23	2018	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.S532S|TPTE_uc002yir.1_Silent_p.S512S|TPTE_uc010gkv.1_Silent_p.S412S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	550					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S550S(1)|p.S532S(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)		ATACTTAATCGGATCCAGCTA	0.398													A	10906911	G	A	10906911	2	1	255	1	0	0	0	0	0	0	0	1	16427	1103	39	2		2	TPTE	21	10906911	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08		10906911	37222984	87	17929											
CELSR1	9620	broad.mit.edu	37	22	46932243	46932243	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr22:46932243G>A	uc003bhw.1	-	0	825	c.825C>T	c.(823-825)ggC>ggT	p.G275G		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	275	Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTCCTCCTCGCCCTCGATGG	0.632													A	46932243	G	A	46932243	2	1	255	1	0	0	0	0	0	0	0	1	3221	1074	38	1		1	CELSR1	22	46932243	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08		46932243	4372323	88	17930											
DACH2	117154	broad.mit.edu	37	X	86068163	86068163	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chrX:86068163C>T	uc004eew.2	+	8	1590	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	DACH2_uc004eex.2_Missense_Mutation_p.R461C|DACH2_uc010nmq.2_Missense_Mutation_p.R340C|DACH2_uc011mra.1_Missense_Mutation_p.R307C|DACH2_uc010nmr.2_Missense_Mutation_p.R255C|DACH2_uc004eey.3_Missense_Mutation_p.R167C|DACH2_uc004eez.3_Missense_Mutation_p.R157C	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	474	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.A473T(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGATAATGCTCGCATCCAGGA	0.373													T	86068163	C	T	86068163	3	4	255	1	0	0	0	0	1	0	0	0	4221	884	31	2	1454	2	DACH2	23	86068163	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		86068163	69202397	89	17931											
SLC6A14	11254	broad.mit.edu	37	X	115588823	115588823	+	Missense_Mutation	SNP	G	G	A	rs142971231		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chrX:115588823G>A	uc004eqi.3	+	12	1794	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	555					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.G554G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TAATTATGGCGCAATTCCATA	0.358													A	115588823	G	A	115588823	3	1	255	1	0	0	0	0	1	0	0	0	14677	1087	38	1	1713	1	SLC6A14	23	115588823	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	29520660	115588823	39681737	90	17932											
CCDC27	148870	broad.mit.edu	37	1	3687985	3687985	+	Silent	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:3687985C>T	uc001akv.2	+	11	1950	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	LOC388588_uc001akw.4_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	623										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)		CAGAGAGAAGCGACTACTATA	0.547													T	3687985	C	T	3687985	2	4	256	1	0	0	0	0	0	0	0	1	2801	767	27	1		1	CCDC27	1	3687985	Silent	SNP	C	TCGA-74-6584-01A-11D-1845-08		3687985	245562636	1	17933											
TINAGL1	64129	broad.mit.edu	37	1	32049166	32049166	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:32049166A>C	uc001bta.3	+	4	698	c.572A>C	c.(571-573)cAt>cCt	p.H191P	TINAGL1_uc010ogj.2_Missense_Mutation_p.H160P|TINAGL1_uc010ogk.1_Missense_Mutation_p.H191P|TINAGL1_uc021oko.1_Missense_Mutation_p.H86P	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	191					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ATGAACATGCATGAAATTTAT	0.592													C	32049166	A	C	32049166	3	2	256	1	0	0	0	0	1	0	0	0	15919	217	8	5	586	5	TINAGL1	1	32049166	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	28361181	32049166	217201455	2	17934											
RORC	6097	broad.mit.edu	37	1	151789175	151789175	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:151789175A>G	uc001ezh.3	-	3	371	c.263T>C	c.(262-264)cTg>cCg	p.L88P	RORC_uc001ezg.3_Missense_Mutation_p.L67P|RORC_uc010pdo.2_Missense_Mutation_p.L142P|RORC_uc010pdp.2_Missense_Mutation_p.L88P	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	88					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCATTTCTGCAGGCGGCAGTG	0.662													G	151789175	A	G	151789175	3	3	256	1	0	0	0	0	1	0	0	0	13530	188	7	4	1325	4	RORC	1	151789175	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	119740009	151789175	97461446	3	17935											
HRNR	388697	broad.mit.edu	37	1	152185788	152185788	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:152185788C>T	uc001ezt.1	-	2	8393	c.8317G>A	c.(8317-8319)Ggc>Agc	p.G2773S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2773					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTCGGCCGTGGCTAAGA	0.602													T	152185788	C	T	152185788	3	4	256	1	0	0	0	0	1	0	0	0	7359	652	23	2	239	2	HRNR	1	152185788	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	396613	152185788	97064833	4	17936											
CEP350	9857	broad.mit.edu	37	1	180062525	180062525	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:180062525T>A	uc001gnt.3	+	33	7668	c.7285T>A	c.(7285-7287)Ttt>Att	p.F2429I	CEP350_uc009wxl.2_Missense_Mutation_p.F2428I|CEP350_uc001gnv.3_Missense_Mutation_p.F564I|CEP350_uc001gnw.1_Missense_Mutation_p.F186I|CEP350_uc001gnx.1_Missense_Mutation_p.F186I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2429						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCCACTAGCTTTGGTAGTAA	0.453													A	180062525	T	A	180062525	3	1	256	1	0	0	0	0	1	0	0	0	3254	1609	56	5	7415	5	CEP350	1	180062525	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08	27876737	180062525	69188096	5	17937											
ADCY3	109	broad.mit.edu	37	2	25044464	25044464	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:25044464C>T	uc010ykm.2	-	18	3251	c.3052G>A	c.(3052-3054)Gcc>Acc	p.A1018T	CENPO_uc002rfp.2_3'UTR|CENPO_uc002rfq.2_3'UTR|ADCY3_uc002rfr.4_Missense_Mutation_p.A604T|ADCY3_uc002rfs.4_Missense_Mutation_p.A1017T	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	1017					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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCGAAGTCGGCCAGGTCAGCC	0.607													T	25044464	C	T	25044464	3	4	256	1	0	0	0	0	1	0	0	0	295	739	26	3	397	3	ADCY3	2	25044464	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		25044464	218154909	6	17938											
C2orf55	343990	broad.mit.edu	37	2	99438371	99438371	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:99438371G>T	uc002szf.1	-	6	2659	c.2365C>A	c.(2365-2367)Ccc>Acc	p.P789T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	789	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TCCTTCCTGGGTTCCCGCTCT	0.736													T	99438371	G	T	99438371	3	4	256	1	0	0	0	0	1	0	0	0	2176	1261	44	5	539	5	C2orf55	2	99438371	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	74393907	99438371	143761002	7	17939											
BOLL	66037	broad.mit.edu	37	2	198643759	198643759	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:198643759G>A	uc002uuu.1	-	2	558	c.179C>T	c.(178-180)tCc>tTc	p.S60F	BOLL_uc002uur.2_Missense_Mutation_p.S60F|BOLL_uc002uus.2_Missense_Mutation_p.S54F|BOLL_uc002uut.2_Missense_Mutation_p.S66F|BOLL_uc010zha.1_5'UTR	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	54	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CCCATACTGGGAAAAAAATTT	0.318													A	198643759	G	A	198643759	3	1	256	1	0	0	0	0	1	0	0	0	1487	1174	41	3	726	3	BOLL	2	198643759	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	99205388	198643759	44555614	8	17940											
OR5AC2	81050	broad.mit.edu	37	3	97806212	97806212	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:97806212G>A	uc011bgs.2	+	0	196	c.196G>A	c.(196-198)Ggt>Agt	p.G66S		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTTATTCCTTGGTGGTTTAGC	0.438													A	97806212	G	A	97806212	3	1	256	1	0	0	0	0	1	0	0	0	11141	1348	47	3	198	3	OR5AC2	3	97806212	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08		97806212	100216218	9	17941											
SENP7	57337	broad.mit.edu	37	3	101046635	101046635	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:101046635T>C	uc003dut.3	-	22	3001	c.2890A>G	c.(2890-2892)Aaa>Gaa	p.K964E	SENP7_uc003duu.3_Missense_Mutation_p.K899E|SENP7_uc003duv.3_Missense_Mutation_p.K931E|SENP7_uc003duw.3_Missense_Mutation_p.K898E|SENP7_uc003dux.3_Missense_Mutation_p.K800E|SENP7_uc003dus.3_Missense_Mutation_p.K152E	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	964	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTTTTTAGTTTAACTTCCCAC	0.338													C	101046635	T	C	101046635	3	2	256	1	0	0	0	0	1	0	0	0	14051	1763	61	4	270	4	SENP7	3	101046635	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08	3240423	101046635	96975795	10	17942											
AADAC	13	broad.mit.edu	37	3	151545690	151545690	+	Silent	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:151545690A>G	uc003eze.3	+	4	1020	c.930A>G	c.(928-930)aaA>aaG	p.K310K		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	310					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGGCTAAAAAATATCCAGGGT	0.418													G	151545690	A	G	151545690	2	3	256	1	0	0	0	0	0	0	0	1	10	98	4	4		4	AADAC	3	151545690	Silent	SNP	A	TCGA-74-6584-01A-11D-1845-08	50499055	151545690	46476740	11	17943											
ATOH1	474	broad.mit.edu	37	4	94750754	94750754	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr4:94750754C>T	uc003hta.1	+	0	677	c.677C>T	c.(676-678)cCg>cTg	p.P226L		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	226	Poly-Pro.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAGCCACCGCCGCCTCCAGCC	0.632													T	94750754	C	T	94750754	3	4	256	1	0	0	0	0	1	0	0	0	1112	652	23	2	679	2	ATOH1	4	94750754	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		94750754	96403522	12	17944											
ZNF827	152485	broad.mit.edu	37	4	146791485	146791485	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr4:146791485G>A	uc003ikn.3	-	4	1941	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D	ZNF827_uc003ikm.3_Silent_p.D631D|ZNF827_uc010iox.3_Silent_p.D281D	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTTTAGTGCGTCCTCAGAGA	0.537													A	146791485	G	A	146791485	2	1	256	1	0	0	0	0	0	0	0	1	18177	1136	40	1		1	ZNF827	4	146791485	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	52040731	146791485	44362791	13	17945											
IL31RA	133396	broad.mit.edu	37	5	55203287	55203287	+	Silent	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr5:55203287C>T	uc003jql.3	+	10	1546	c.1354_splice	c.e10+1	p.V452_splice	IL31RA_uc003jqk.3_Splice_Site_p.V452_splice|IL31RA_uc011cqj.2_Splice_Site_p.V310_splice|IL31RA_uc003jqm.3_Splice_Site_p.V433_splice|IL31RA_uc003jqn.3_Splice_Site_p.V452_splice|IL31RA_uc010iwa.1_Splice_Site_p.V420_splice|IL31RA_uc021xyq.1_Splice_Site_p.V433_splice|IL31RA_uc003jqo.3_Splice_Site_p.V310_splice	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	420	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAAAGAAGGCGGTATGAATG	0.463													T	55203287	C	T	55203287	2	4	256	1	0	0	0	0	0	0	0	1	7691	782	27	1		1	IL31RA	5	55203287	Silent	SNP	C	TCGA-74-6584-01A-11D-1845-08		55203287	125711973	14	17946											
FBN2	2201	broad.mit.edu	37	5	127624839	127624839	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr5:127624839T>C	uc003kuu.3	-	51	7056	c.6617A>G	c.(6616-6618)tAc>tGc	p.Y2206C		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2206	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACTCCAGTGTAGTCAAGGTT	0.428													C	127624839	T	C	127624839	3	2	256	1	0	0	0	0	1	0	0	0	5703	1638	57	4	2177	4	FBN2	5	127624839	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08	72421552	127624839	53290421	15	17947											
DSP	1832	broad.mit.edu	37	6	7581687	7581687	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:7581687A>T	uc003mxp.1	+	22	5543	c.5264A>T	c.(5263-5265)cAg>cTg	p.Q1755L	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1755	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTAAGGAGCCAGCTGCAGATC	0.483													T	7581687	A	T	7581687	3	4	256	1	0	0	0	0	1	0	0	0	4781	188	7	5	5354	5	DSP	6	7581687	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08		7581687	163533380	16	17948											
ZNF184	7738	broad.mit.edu	37	6	27419109	27419109	+	Silent	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:27419109T>C	uc003njj.3	-	4	3040	c.2229A>G	c.(2227-2229)aaA>aaG	p.K743K	ZNF184_uc010jqv.3_Silent_p.K743K|ZNF184_uc003nji.3_Silent_p.K743K	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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						GTCTCTGATGTTTGTTGAGAG	0.378													C	27419109	T	C	27419109	2	2	256	1	0	0	0	0	0	0	0	1	17748	1722	60	4		4	ZNF184	6	27419109	Silent	SNP	T	TCGA-74-6584-01A-11D-1845-08	19837422	27419109	143695958	17	17949											
PKHD1	5314	broad.mit.edu	37	6	51777281	51777281	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:51777281G>T	uc003pah.1	-	37	6491	c.6215C>A	c.(6214-6216)cCt>cAt	p.P2072H	PKHD1_uc010jzn.1_Missense_Mutation_p.P97H|PKHD1_uc003pai.3_Missense_Mutation_p.P2072H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2072					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			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)					TTCATCCCCAGGGTTCCAGTC	0.478													T	51777281	G	T	51777281	3	4	256	1	0	0	0	0	1	0	0	0	11971	1000	35	5	6168	5	PKHD1	6	51777281	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	24358172	51777281	119337786	18	17950											
PKHD1	5314	broad.mit.edu	37	6	51947232	51947232	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:51947232A>G	uc003pah.1	-	3	515	c.239T>C	c.(238-240)tTt>tCt	p.F80S	PKHD1_uc003pai.3_Missense_Mutation_p.F80S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	80	IPT/TIG 1; atypical.				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			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)					GAAAACAGGAAAGACGTCACA	0.502													G	51947232	A	G	51947232	3	3	256	1	0	0	0	0	1	0	0	0	11971	14	1	4	12280	4	PKHD1	6	51947232	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	169951	51947232	119167835	19	17951											
COL10A1	1300	broad.mit.edu	37	6	116442879	116442879	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:116442879G>A	uc003pwm.3	-	2	496	c.400C>T	c.(400-402)Cta>Tta	p.L134L	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	134	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTCCTGGTAGGCCAGCTGGT	0.602													A	116442879	G	A	116442879	2	1	256	1	0	0	0	0	0	0	0	1	3666	991	35	3		3	COL10A1	6	116442879	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	64495647	116442879	54672188	20	17952											
COBL	23242	broad.mit.edu	37	7	51287539	51287539	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr7:51287539C>A	uc003tps.3	-	1	329	c.144G>T	c.(142-144)caG>caT	p.Q48H	COBL_uc003tpr.4_Missense_Mutation_p.Q48H|COBL_uc011kcl.2_Missense_Mutation_p.Q48H|COBL_uc010kzc.3_Missense_Mutation_p.Q48H|COBL_uc003tpt.3_Missense_Mutation_p.Q48H	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	48										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCAAGTTCTGCTGCGACCCGA	0.632													A	51287539	C	A	51287539	3	1	256	1	0	0	0	0	1	0	0	0	3653	796	28	5	3689	5	COBL	7	51287539	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		51287539	107851124	21	17953											
PHF2	5253	broad.mit.edu	37	9	96421820	96421820	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:96421820C>T	uc004aub.3	+	10	1414	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	PHF2_uc011lug.1_Missense_Mutation_p.P306S	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	423					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GGACGAGCTCCCGGAGCACTT	0.612													T	96421820	C	T	96421820	3	4	256	1	0	0	0	0	1	0	0	0	11830	623	22	3	1309	3	PHF2	9	96421820	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		96421820	44791611	22	17954											
LPAR1	1902	broad.mit.edu	37	9	113703965	113703965	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:113703965C>T	uc011lwo.2	-	1	534	c.532G>A	c.(532-534)Gtt>Att	p.V178I	LPAR1_uc004bfa.3_Missense_Mutation_p.V177I|LPAR1_uc011lwm.2_Missense_Mutation_p.V178I|LPAR1_uc004bfc.3_Missense_Mutation_p.V177I|LPAR1_uc011lwn.2_Missense_Mutation_p.V159I|LPAR1_uc004bfb.3_Missense_Mutation_p.V177I|LPAR1_uc010mub.3_Missense_Mutation_p.V177I	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	177					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.V177I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCACCCATAACGATGGCCATA	0.498													T	113703965	C	T	113703965	3	4	256	1	0	0	0	0	1	0	0	0	8904	536	19	1	573	1	LPAR1	9	113703965	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	17282145	113703965	27509466	23	17955											
SUFU	51684	broad.mit.edu	37	10	104353785	104353785	+	Frame_Shift_Del	DEL	G	G	-			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr10:104353785delG	uc001kvy.2	+	5	910	c.719delG	c.(718-720)aggfs	p.R240fs	SUFU_uc001kvw.2_Frame_Shift_Del_p.R240fs|SUFU_uc001kvx.3_Frame_Shift_Del_p.R240fs|SUFU_uc009xxe.2_5'Flank|SUFU_uc009xxf.2_5'Flank	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	240					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GACATGCGGAGGGGAGAGACC	0.532			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				-	104353785	G	-	104353785	7	5	256	1	0	1	0	1	0	0	0	0	15367	1000	35	0	741	0	SUFU	10	104353785	Frame_Shift_Del	DEL	G	TCGA-74-6584-01A-11D-1845-08		104353785	31180962	24	17956											
SIGIRR	59307	broad.mit.edu	37	11	408155	408155	+	Silent	SNP	G	G	A	rs142561304		TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:408155G>A	uc001lpg.3	-	2	411	c.258C>T	c.(256-258)aaC>aaT	p.N86N	SIGIRR_uc001lpd.2_Silent_p.N86N|SIGIRR_uc001lpf.2_Silent_p.N86N|SIGIRR_uc001lpe.1_Silent_p.N86N			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	86	Ig-like C2-type.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGTCACGTTGACCCCCA	0.577													A	408155	G	A	408155	2	1	256	1	0	0	0	0	0	0	0	1	14304	1136	40	1		1	SIGIRR	11	408155	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08		408155	134598361	25	17957											
OR10AG1	282770	broad.mit.edu	37	11	55735664	55735664	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:55735664C>T	uc010rit.2	-	0	276	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M92T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAAAAAACACATTTGTGTAG	0.403													T	55735664	C	T	55735664	3	4	256	1	0	0	0	0	1	0	0	0	10897	478	17	3	632	3	OR10AG1	11	55735664	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	55327509	55735664	79270852	26	17958											
DDI1	414301	broad.mit.edu	37	11	103908618	103908618	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:103908618G>A	uc001phr.2	+	0	1311	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	356					proteolysis		aspartic-type endopeptidase activity	p.T356T(3)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCACTGGCACGCAGACTTATT	0.463													A	103908618	G	A	103908618	2	1	256	1	0	0	0	0	0	0	0	1	4328	1074	38	1		1	DDI1	11	103908618	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	48172954	103908618	31097898	27	17959											
MMP19	4327	broad.mit.edu	37	12	56230872	56230872	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr12:56230872C>T	uc001sib.3	-	8	1596	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	MMP19_uc001sia.3_Missense_Mutation_p.G206D|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_3'UTR	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	492					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CAAGGTTATGCCCGTACCTGA	0.507													T	56230872	C	T	56230872	3	4	256	1	0	0	0	0	1	0	0	0	9657	739	26	3	55	3	MMP19	12	56230872	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		56230872	77621023	28	17960											
PLXNC1	10154	broad.mit.edu	37	12	94654582	94654582	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr12:94654582A>T	uc001tdc.3	+	19	3665	c.3416A>T	c.(3415-3417)aAc>aTc	p.N1139I	PLXNC1_uc010sut.2_Missense_Mutation_p.N186I|PLXNC1_uc009zsv.3_5'Flank	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1139					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCCTCACAAACTGGATGTCC	0.498													T	94654582	A	T	94654582	3	4	256	1	0	0	0	0	1	0	0	0	12126	43	2	5	3494	5	PLXNC1	12	94654582	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	38423710	94654582	39197313	29	17961											
COL4A2	1284	broad.mit.edu	37	13	111084708	111084708	+	Splice_Site	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr13:111084708G>A	uc001vqx.3	+	11	973	c.684_splice	c.e11+1	p.Q228_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	228	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGACAGCAAGTAAGTTGGTT	0.438													A	111084708	G	A	111084708	5	1	256	1	0	0	0	0	0	0	1	0	3690	1043	36	3	723	3	COL4A2	13	111084708	Splice_Site	SNP	G	TCGA-74-6584-01A-11D-1845-08		111084708	4085170	30	17962											
PTGR2	145482	broad.mit.edu	37	14	74346839	74346839	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr14:74346839C>G	uc001xow.3	+	6	971	c.811C>G	c.(811-813)Cct>Gct	p.P271A	PTGR2_uc010tue.2_Missense_Mutation_p.P271A|PTGR2_uc001xox.3_Missense_Mutation_p.P271A|ZNF410_uc001xoy.2_Non-coding_Transcript	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN	Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.	271					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						CCCGCTATCCCCTGCTATAGA	0.413													G	74346839	C	G	74346839	3	3	256	1	0	0	0	0	1	0	0	0	12754	623	22	5	833	5	PTGR2	14	74346839	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		74346839	33002701	31	17963											
MFAP1	4236	broad.mit.edu	37	15	44106722	44106722	+	Silent	SNP	G	G	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr15:44106722G>T	uc001zth.1	-	3	778	c.594C>A	c.(592-594)cgC>cgA	p.R198R		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	198						microfibril				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)		CTGGCTTAAGGCGAGGCTCCA	0.448													T	44106722	G	T	44106722	2	4	256	1	0	0	0	0	0	0	0	1	9513	1190	42	5		5	MFAP1	15	44106722	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08		44106722	58424670	32	17964											
VWA3A	146177	broad.mit.edu	37	16	22149825	22149825	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:22149825G>A	uc010vbq.2	+	21	2380	c.2284G>A	c.(2284-2286)Gcc>Acc	p.A762T	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.A770T	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	762						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCCCTGGGGGCCAGAATGGT	0.537													A	22149825	G	A	22149825	3	1	256	1	0	0	0	0	1	0	0	0	17237	1203	42	3	2370	3	VWA3A	16	22149825	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08		22149825	68204928	33	17965											
STX1B	112755	broad.mit.edu	37	16	31004532	31004532	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:31004532G>A	uc010cad.2	-	8	817	c.705C>T	c.(703-705)aaC>aaT	p.N235N	STX1B_uc010vfd.2_Silent_p.N235N	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	235	t-SNARE coiled-coil homology.				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						AATGTTCCACGTTGTACTCGA	0.602													A	31004532	G	A	31004532	2	1	256	1	0	0	0	0	0	0	0	1	15343	1136	40	1		1	STX1B	16	31004532	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	8854707	31004532	59350221	34	17966											
FAM92B	339145	broad.mit.edu	37	16	85132864	85132864	+	Missense_Mutation	SNP	A	A	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:85132864A>C	uc021tma.1	-	8	998	c.842T>G	c.(841-843)gTg>gGg	p.V281G	FAM92B_uc021tlz.1_Missense_Mutation_p.V279G	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	281										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CCCCTTAACCACCCACTCACA	0.532													C	85132864	A	C	85132864	3	2	256	1	0	0	0	0	1	0	0	0	5653	159	6	5	76	5	FAM92B	16	85132864	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	54128332	85132864	5221889	35	17967											
FOXN1	8456	broad.mit.edu	37	17	26864216	26864216	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr17:26864216C>T	uc010crm.3	+	8	1907	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	FOXN1_uc002hbj.3_Missense_Mutation_p.S570L	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	570					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACATCATCTTCGATGCCACCA	0.612													T	26864216	C	T	26864216	3	4	256	1	0	0	0	0	1	0	0	0	6019	893	31	2	1739	2	FOXN1	17	26864216	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		26864216	54330994	36	17968											
THOC1	9984	broad.mit.edu	37	18	225100	225100	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr18:225100T>C	uc002kkj.4	-	13	1166	c.1126A>G	c.(1126-1128)Aag>Gag	p.K376E	THOC1_uc002kkl.2_3'UTR|THOC1_uc002kkh.4_5'UTR	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	376					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTACCATCTTTGAAAATCTT	0.363													C	225100	T	C	225100	3	2	256	1	0	0	0	0	1	0	0	0	15861	1850	64	4	879	4	THOC1	18	225100	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08		225100	77852148	37	17969											
CEACAM7	1087	broad.mit.edu	37	19	42187745	42187745	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:42187745C>T	uc002ori.1	-	2	679	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CEACAM7_uc010ehx.2_Missense_Mutation_p.R226H|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	226	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGGGTCACTGCGGCTGGCACC	0.547													T	42187745	C	T	42187745	3	4	256	1	0	0	0	0	1	0	0	0	3197	768	27	1	128	1	CEACAM7	19	42187745	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		42187745	16941238	38	17970											
NLRP12	91662	broad.mit.edu	37	19	54313743	54313743	+	Silent	SNP	G	G	A	rs146245368	byFrequency	TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:54313743G>A	uc002qcj.4	-	2	1390	c.1170C>T	c.(1168-1170)taC>taT	p.Y390Y	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.Y390Y|NLRP12_uc002qci.4_Silent_p.Y390Y|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.Y390Y	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	390	NACHT.				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			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)		TGTCCCTCACGTAATTGAAGA	0.567													A	54313743	G	A	54313743	2	1	256	1	0	0	0	0	0	0	0	1	10474	1140	40	1		1	NLRP12	19	54313743	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	12125998	54313743	4815240	39	17971											
FASTKD5	60493	broad.mit.edu	37	20	3128199	3128199	+	Silent	SNP	A	A	C			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr20:3128199A>C	uc021vzx.1	-	0	1518	c.1518T>G	c.(1516-1518)acT>acG	p.T506T	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.T506T	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	506					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGTCAAACTTAGTTCTCTCCT	0.468													C	3128199	A	C	3128199	2	2	256	1	0	0	0	0	0	0	0	1	5688	407	15	5		5	FASTKD5	20	3128199	Silent	SNP	A	TCGA-74-6584-01A-11D-1845-08		3128199	59897321	40	17972											
DCAF8L1	139425	broad.mit.edu	37	X	27999269	27999269	+	Silent	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:27999269G>A	uc004dbx.1	-	0	298	c.183C>T	c.(181-183)aaC>aaT	p.N61N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	61								p.L60M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGCTGGCATCGTTCAGGAAAC	0.507													A	27999269	G	A	27999269	2	1	256	1	0	0	0	0	0	0	0	1	4277	1136	40	1		1	DCAF8L1	23	27999269	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08		27999269	127271291	41	17973											
SSX5	6758	broad.mit.edu	37	X	48053576	48053576	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:48053576C>T	uc004diz.1	-	4	445	c.392G>A	c.(391-393)cGt>cAt	p.R131H	SSX5_uc004dja.1_Missense_Mutation_p.R90H	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGATTCCCACGGTTAGGGTC	0.498													T	48053576	C	T	48053576	3	4	256	1	0	0	0	0	1	0	0	0	15207	536	19	1	313	1	SSX5	23	48053576	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	20054307	48053576	107216984	42	17974											
MUM1L1	139221	broad.mit.edu	37	X	105450536	105450536	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:105450536G>A	uc022cca.1	+	0	1111	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	MUM1L1_uc004emg.2_Missense_Mutation_p.D371N|MUM1L1_uc004emf.2_Missense_Mutation_p.D371N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	371										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTATTAGATGATGATGAGGA	0.368													A	105450536	G	A	105450536	3	1	256	1	0	0	0	0	1	0	0	0	9986	1290	45	3	1113	3	MUM1L1	23	105450536	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	57396960	105450536	49820024	43	17975											
LAMP2	3920	broad.mit.edu	37	X	119589247	119589247	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:119589247C>A	uc004ess.4	-	2	542	c.362G>T	c.(361-363)gGt>gTt	p.G121V	LAMP2_uc004est.4_Missense_Mutation_p.G121V|LAMP2_uc011mtz.2_Intron|LAMP2_uc011mua.1_Missense_Mutation_p.G74V|LAMP2_uc010nqp.1_Missense_Mutation_p.G121V	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.	121	First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGTGTTATCACCAGTGTTGTA	0.363													A	119589247	C	A	119589247	3	1	256	1	0	0	0	0	1	0	0	0	8618	507	18	5	1189	5	LAMP2	23	119589247	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	14138711	119589247	35681313	44	17976											
CASZ1	54897	broad.mit.edu	37	1	10699777	10699777	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:10699777C>T	uc001aro.3	-	20	4822	c.4502G>A	c.(4501-4503)tGc>tAc	p.C1501Y		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1501				C -> R (in Ref. 2; ABB29845).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGAAGTGGCAGCTGAGTGA	0.657													T	10699777	C	T	10699777	3	4	257	1	0	0	0	0	1	0	0	0	2685	710	25	3	781	3	CASZ1	1	10699777	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		10699777	238550844	1	17977											
NCDN	23154	broad.mit.edu	37	1	36026428	36026431	+	Frame_Shift_Del	DEL	AGTG	AGTG	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:36026428_36026431delAGTG	uc001bza.3	+	3	803_806	c.676_679delAGTG	c.(676-681)agtgagfs	p.S226fs	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Del_p.S226fs|NCDN_uc001bzc.3_Frame_Shift_Del_p.S209fs	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	226					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCGGGGCCTCAGTGAGGATTTCCA	0.642													-	36026431	AGTG	-	36026428	7	5	257	1	0	1	0	1	0	0	0	0	10214	188	7	0	686	0	NCDN	1	36026428	Frame_Shift_Del	DEL	AGTG	TCGA-76-4925-01A-01D-1486-08	25326651	36026428	213224193	2	17978											
TOE1	114034	broad.mit.edu	37	1	45807217	45807217	+	Silent	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:45807217C>G	uc009vxq.3	+	3	892	c.309C>G	c.(307-309)gcC>gcG	p.A103A	MUTYH_uc001cnf.3_5'Flank|MUTYH_uc009vxo.3_5'Flank|MUTYH_uc001cng.3_5'Flank|MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Intron|TOE1_uc010oln.1_Silent_p.A109A|TOE1_uc001cnr.4_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	103						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGGGCCTCGCCTGCTTCAAGC	0.562													G	45807217	C	G	45807217	2	3	257	1	0	0	0	0	0	0	0	1	16346	668	24	5		5	TOE1	1	45807217	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	9780789	45807217	203443404	3	17979											
MCOLN3	55283	broad.mit.edu	37	1	85491656	85491656	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:85491656A>G	uc001dkp.3	-	8	1208	c.1061T>C	c.(1060-1062)aTt>aCt	p.I354T	MCOLN3_uc001dko.3_5'Flank|MCOLN3_uc001dkq.3_Missense_Mutation_p.I298T|MCOLN3_uc001dkr.3_3'UTR|MCOLN3_uc001dks.4_Missense_Mutation_p.I199T	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	354						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATTGATCCAATGATTGTCAA	0.303													G	85491656	A	G	85491656	3	3	257	1	0	0	0	0	1	0	0	0	9397	101	4	4	620	4	MCOLN3	1	85491656	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	39684439	85491656	163758965	4	17980											
HFM1	164045	broad.mit.edu	37	1	91739356	91739356	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:91739356T>C	uc001doa.4	-	33	3784	c.3685A>G	c.(3685-3687)Ata>Gta	p.I1229V	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.I908V|HFM1_uc001dob.4_Missense_Mutation_p.I417V|HFM1_uc010osv.1_Missense_Mutation_p.I913V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1229							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAGATATGTTTAAATAT	0.284													C	91739356	T	C	91739356	3	2	257	1	0	0	0	0	1	0	0	0	7083	1464	51	4	646	4	HFM1	1	91739356	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	6247700	91739356	157511265	5	17981											
DPYD	1806	broad.mit.edu	37	1	97847978	97847978	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:97847978C>A	uc001drv.3	-	14	2082	c.1945G>T	c.(1945-1947)Gac>Tac	p.D649Y		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	649					'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			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)	TCCGTCCAGTCATTTTTATTG	0.279													A	97847978	C	A	97847978	3	1	257	1	0	0	0	0	1	0	0	0	4745	826	29	5	1168	5	DPYD	1	97847978	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	6108622	97847978	151402643	6	17982											
RORC	6097	broad.mit.edu	37	1	151787517	151787517	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:151787517C>T	uc001ezh.3	-	4	791	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	RORC_uc001ezg.3_Missense_Mutation_p.R207Q|RORC_uc010pdo.2_Missense_Mutation_p.R282Q|RORC_uc010pdp.2_Missense_Mutation_p.R228Q	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	228	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTCCACATCGGTCAGGGGT	0.612													T	151787517	C	T	151787517	3	4	257	1	0	0	0	0	1	0	0	0	13530	884	31	2	901	2	RORC	1	151787517	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	53939539	151787517	97463104	7	17983											
NTRK1	4914	broad.mit.edu	37	1	156849919	156849919	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:156849919G>A	uc001fqh.1	+	15	2231	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	NTRK1_uc001fqf.1_Silent_p.K689K|NTRK1_uc009wsi.1_Silent_p.K424K|NTRK1_uc001fqi.1_Silent_p.K719K|NTRK1_uc009wsk.1_Silent_p.K722K	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	725	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCTACGGCAAGCAGCCCTGGT	0.632			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			A	156849919	G	A	156849919	2	1	257	1	0	0	0	0	0	0	0	1	10706	962	34	3		3	NTRK1	1	156849919	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	5062402	156849919	92400702	8	17984											
DEDD	9191	broad.mit.edu	37	1	161094314	161094314	+	Translation_Start_Site	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:161094314G>A	uc009wty.3	-	1					NIT1_uc001fxw.3_3'UTR|DEDD_uc001fxz.3_5'UTR|DEDD_uc001fya.3_5'UTR|DEDD_uc001fyb.3_5'UTR|DEDD_uc010pkb.2_5'UTR	NM_001039712	NP_127491	O75618	DEDD_HUMAN	Homo sapiens death effector domain containing (DEDD), transcript variant 4, mRNA.						apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AATCCCCACCGTACTGAAAGG	0.562													A	161094314	G	A	161094314	1	1	257	1	0	0	0	0	0	0	0	0	4384	1160	40	1		1	DEDD	1	161094314	Translation_Start_Site	SNP	G	TCGA-76-4925-01A-01D-1486-08	4244395	161094314	88156307	9	17985											
SUCLG1	8802	broad.mit.edu	37	2	84676841	84676841	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:84676841C>T	uc002son.3	-	1	326	c.133G>A	c.(133-135)Gct>Act	p.A45T	SUCLG1_uc010ysk.1_Missense_Mutation_p.A32T	NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	45					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGCCGAGAAGCTGTGTAGGAA	0.299													T	84676841	C	T	84676841	3	4	257	1	0	0	0	0	1	0	0	0	15363	797	28	3	939	3	SUCLG1	2	84676841	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		84676841	158522532	10	17986											
C2orf55	343990	broad.mit.edu	37	2	99412664	99412664	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:99412664C>T	uc002szf.1	-	8	2962	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	890										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CGGTCCACAGCGGGCTTCACA	0.498													T	99412664	C	T	99412664	3	4	257	1	0	0	0	0	1	0	0	0	2176	768	27	1	228	1	C2orf55	2	99412664	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	14735823	99412664	143786709	11	17987											
PCDP1	200373	broad.mit.edu	37	2	120362804	120362805	+	Frame_Shift_Ins	INS	-	-	CACT			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:120362804_120362805insCACT	uc002tmb.3	+	11	1326_1327	c.214_215insCACT	c.(214-216)gcafs	p.A72fs	PCDP1_uc010yyq.2_Frame_Shift_Ins_p.A202fs	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	358						cilium	calmodulin binding					Colorectal(110;0.196)					GATGAAGGAGGCACTCTTTGAA	0.386													CACT	120362805	-	CACT	120362804	7	5	257	1	0	1	1	0	0	0	0	0	11572	1203	42	0	224	0	PCDP1	2	120362804	Frame_Shift_Ins	INS	-	TCGA-76-4925-01A-01D-1486-08	20950140	120362804	122836569	12	17988											
THSD7B	80731	broad.mit.edu	37	2	137928455	137928455	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:137928455G>T	uc002tva.1	+	5	1577	c.1577G>T	c.(1576-1578)gGa>gTa	p.G526V	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416V	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGATCATGGAAAATGTGGC	0.522													T	137928455	G	T	137928455	3	4	257	1	0	0	0	0	1	0	0	0	15877	1174	41	5	1599	5	THSD7B	2	137928455	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	17565651	137928455	105270918	13	17989											
ADAMTS9	56999	broad.mit.edu	37	3	64527058	64527058	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:64527058G>A	uc003dmg.3	-	34	5357	c.5325C>T	c.(5323-5325)ccC>ccT	p.P1775P	ADAMTS9_uc011bfo.2_Silent_p.P1747P|ADAMTS9_uc011bfp.1_Silent_p.P686P	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1775	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGTACTCTTTGGGGTGGTCAG	0.502													A	64527058	G	A	64527058	2	1	257	1	0	0	0	0	0	0	0	1	273	1335	47	3		3	ADAMTS9	3	64527058	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08		64527058	133495372	14	17990											
CNTN3	5067	broad.mit.edu	37	3	74334529	74334529	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:74334529C>T	uc003dpm.1	-	18	2711	c.2631G>A	c.(2629-2631)acG>acA	p.T877T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	877	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			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)		CCCGGACAGCCGTGTAATAGG	0.498													T	74334529	C	T	74334529	2	4	257	1	0	0	0	0	0	0	0	1	3642	639	23	2		2	CNTN3	3	74334529	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	9807471	74334529	123687901	15	17991											
POPDC2	64091	broad.mit.edu	37	3	119373376	119373376	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:119373376C>T	uc003ecx.1	-	1	710	c.576G>A	c.(574-576)caG>caA	p.Q192Q	POPDC2_uc010hqw.1_Silent_p.Q192Q|POPDC2_uc003ecy.1_Silent_p.Q10Q	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	192						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCTCAGAAGGCTGTAGTGATT	0.562													T	119373376	C	T	119373376	2	4	257	1	0	0	0	0	0	0	0	1	12255	796	28	3		3	POPDC2	3	119373376	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	45038847	119373376	78649054	16	17992											
ZIC1	7545	broad.mit.edu	37	3	147128086	147128086	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:147128086G>A	uc003ewe.3	+	0	906	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	63					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			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						CGGCCAGACGGCCTTCACGTC	0.687													A	147128086	G	A	147128086	3	1	257	1	0	0	0	0	1	0	0	0	17675	1203	42	3	189	3	ZIC1	3	147128086	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	27754710	147128086	50894344	17	17993											
MED12L	116931	broad.mit.edu	37	3	150906259	150906259	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:150906259C>T	uc003eyp.3	+	11	1874	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L	MED12L_uc011bnz.2_Missense_Mutation_p.P442L|MED12L_uc003eyn.3_Missense_Mutation_p.P582L|MED12L_uc003eyo.3_Missense_Mutation_p.P582L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	582					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				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)			ACACAGGCCCCCTCTTTGTGT	0.343													T	150906259	C	T	150906259	3	4	257	1	0	0	0	0	1	0	0	0	9429	623	22	3	1791	3	MED12L	3	150906259	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	3778173	150906259	47116171	18	17994											
MTMR12	54545	broad.mit.edu	37	5	32255876	32255876	+	Splice_Site	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:32255876T>C	uc003jhq.3	-	8	884	c.714_splice	c.e8-1	p.R238_splice	MTMR12_uc010iuk.3_Splice_Site_p.R238_splice|MTMR12_uc010iul.3_Splice_Site_p.R238_splice	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	238	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCTGGCAATCTAGAAGAAAGA	0.418													C	32255876	T	C	32255876	5	2	257	1	0	0	0	0	0	0	1	0	9941	1536	53	4	1567	4	MTMR12	5	32255876	Splice_Site	SNP	T	TCGA-76-4925-01A-01D-1486-08		32255876	148659384	19	17995											
SLCO6A1	133482	broad.mit.edu	37	5	101815988	101815988	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:101815988T>A	uc003knn.3	-	1	681	c.509A>T	c.(508-510)aAa>aTa	p.K170I	SLCO6A1_uc003kno.3_Missense_Mutation_p.K170I|SLCO6A1_uc003knp.3_Missense_Mutation_p.K170I|SLCO6A1_uc003knq.3_Missense_Mutation_p.K170I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	170						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCATATTACTTTTTTTCTGTC	0.333													A	101815988	T	A	101815988	3	1	257	1	0	0	0	0	1	0	0	0	14732	1841	64	5	1698	5	SLCO6A1	5	101815988	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	69560112	101815988	79099272	20	17996											
TRPC7	57113	broad.mit.edu	37	5	135692995	135692995	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:135692995C>T	uc003lbn.2	-	1	303	c.81G>A	c.(79-81)cgG>cgA	p.R27R	TRPC7_uc010jef.2_Silent_p.R18R|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.R27R|TRPC7_uc010jei.2_Silent_p.R27R	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	27					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R27Q(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCGGGACCCCGGATGGCCT	0.612													T	135692995	C	T	135692995	2	4	257	1	0	0	0	0	0	0	0	1	16581	610	22	3		3	TRPC7	5	135692995	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	33877007	135692995	45222265	21	17997											
PCDHAC2	56145	broad.mit.edu	37	5	140182972	140182972	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:140182972C>T	uc003lhf.2	+	0	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.G730G	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCGAAGGCGACTGTGGGC	0.642													T	140182972	C	T	140182972	2	4	257	1	0	0	0	0	0	0	0	1	11533	755	27	1		1	PCDHAC2	5	140182972	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	4489977	140182972	40732288	22	17998											
ZFP57	346171	broad.mit.edu	37	6	29641071	29641071	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:29641071C>G	uc011dlw.2	-	3	968	c.817G>C	c.(817-819)Gag>Cag	p.E273Q		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	189					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CGTTTGAGCTCAGACTGGTCC	0.552													G	29641071	C	G	29641071	3	3	257	1	0	0	0	0	1	0	0	0	17648	835	29	5	797	5	ZFP57	6	29641071	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		29641071	141473996	23	17999											
STXBP5	134957	broad.mit.edu	37	6	147704054	147704054	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:147704054G>C	uc003qlz.3	+	26	3509	c.3334G>C	c.(3334-3336)Ggg>Cgg	p.G1112R	STXBP5_uc010khz.2_Missense_Mutation_p.G1076R|STXBP5_uc003qly.3_Missense_Mutation_p.G767R	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	1112	v-SNARE coiled-coil homology.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			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)		AGATGAAAGAGGGCAGAAACT	0.483													C	147704054	G	C	147704054	3	2	257	1	0	0	0	0	1	0	0	0	15355	1000	35	5	3440	5	STXBP5	6	147704054	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	118062983	147704054	23411013	24	18000											
NDUFA4	4697	broad.mit.edu	37	7	10979661	10979661	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:10979661C>G	uc003srx.2	-	0	153	c.24G>C	c.(22-24)caG>caC	p.Q8H		NM_002489	NP_002480	O00483	NDUA4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa (NDUFA4), nuclear gene encoding mitochondrial protein, mRNA.	8					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	GCTTCTTGGCCTGACCGATGA	0.547													G	10979661	C	G	10979661	3	3	257	1	0	0	0	0	1	0	0	0	10266	680	24	5	237	5	NDUFA4	7	10979661	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		10979661	148159002	25	18001											
DNAH11	8701	broad.mit.edu	37	7	21611464	21611464	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:21611464G>A	uc003svc.3	+	7	1497	c.1466G>A	c.(1465-1467)aGa>aAa	p.R489K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	489	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGCTGGAAAGACTGGAATTT	0.353									Kartagener syndrome				A	21611464	G	A	21611464	3	1	257	1	0	0	0	0	1	0	0	0	4599	942	33	3	1496	3	DNAH11	7	21611464	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	10631803	21611464	137527199	26	18002											
CHN2	1124	broad.mit.edu	37	7	29539565	29539565	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:29539565G>A	uc003szz.3	+	8	1259	c.822G>A	c.(820-822)gtG>gtA	p.V274V	CHN2_uc011jzs.2_Silent_p.V349V|CHN2_uc010kva.3_Silent_p.V44V|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.V239V|CHN2_uc011jzt.2_Silent_p.V287V|CHN2_uc010kvd.3_Silent_p.V130V|CHN2_uc011jzu.2_Silent_p.V259V|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Silent_p.V138V|CHN2_uc010kve.3_Silent_p.V138V|CHN2_uc003taa.3_Silent_p.V138V|CHN2_uc010kvf.3_Intron|CHN2_uc010kvg.3_Silent_p.V138V|CHN2_uc010kvj.3_Silent_p.V93V|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Silent_p.V93V|CHN2_uc011jzv.2_Silent_p.V67V	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	274					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCAAGAAAGTGTACTGTTGTG	0.448													A	29539565	G	A	29539565	2	1	257	1	0	0	0	0	0	0	0	1	3363	1364	48	3		3	CHN2	7	29539565	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	7928101	29539565	129599098	27	18003											
ELN	2006	broad.mit.edu	37	7	73472022	73472022	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:73472022G>A	uc003tzw.3	+	21	1501	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	ELN_uc003tzn.3_Silent_p.Q470Q|ELN_uc003tzy.3_Intron|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Intron|ELN_uc003tzt.3_Silent_p.Q475Q|ELN_uc003tzu.3_Intron|ELN_uc003tzv.3_Intron|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.Q460Q|ELN_uc011kff.2_Silent_p.Q470Q	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	499	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AAGCCGCCCAGTTTGGTAAGT	0.612			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						A	73472022	G	A	73472022	2	1	257	1	0	0	0	0	0	0	0	1	5071	1020	36	3		3	ELN	7	73472022	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	43932457	73472022	85666641	28	18004											
GNAT3	346562	broad.mit.edu	37	7	80091548	80091548	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:80091548G>C	uc011kgu.2	-	6	801	c.801C>G	c.(799-801)ttC>ttG	p.F267L	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	267					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTTGTTGAGGAACAGGACAA	0.343													C	80091548	G	C	80091548	3	2	257	1	0	0	0	0	1	0	0	0	6513	1165	41	5	269	5	GNAT3	7	80091548	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	6619526	80091548	79047115	29	18005											
CALCR	799	broad.mit.edu	37	7	93091387	93091387	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:93091387T>C	uc003umv.2	-	8	911	c.611A>G	c.(610-612)tAt>tGt	p.Y204C	CALCR_uc003umt.1_Intron|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Intron|CALCR_uc003umw.2_Intron	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	186					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGCCTTCCTATATTTCCAATT	0.284													C	93091387	T	C	93091387	3	2	257	1	0	0	0	0	1	0	0	0	2579	1406	49	4	947	4	CALCR	7	93091387	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	12999839	93091387	66047276	30	18006											
GRM8	2918	broad.mit.edu	37	7	126882860	126882860	+	Silent	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:126882860A>G	uc003vlr.2	-	0	710	c.399T>C	c.(397-399)tgT>tgC	p.C133C	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.C133C|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	133					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTCCATTAGCACACTTCACAT	0.483										HNSCC(24;0.065)			G	126882860	A	G	126882860	2	3	257	1	0	0	0	0	0	0	0	1	6803	157	6	4		4	GRM8	7	126882860	Silent	SNP	A	TCGA-76-4925-01A-01D-1486-08	33791473	126882860	32255803	31	18007											
TSGA13	114960	broad.mit.edu	37	7	130357671	130357671	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:130357671G>A	uc003vqi.3	-	5	890	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TSGA13_uc003vqj.3_Missense_Mutation_p.R145C	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	145										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGAGGCATGCGGGGCAGCCAG	0.473													A	130357671	G	A	130357671	3	1	257	1	0	0	0	0	1	0	0	0	16616	1116	39	2	406	2	TSGA13	7	130357671	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	3474811	130357671	28780992	32	18008											
TRPV5	56302	broad.mit.edu	37	7	142625188	142625188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:142625188G>A	uc003wby.1	-	6	1168	c.904C>T	c.(904-906)Cga>Tga	p.R302*	TRPV5_uc003wbz.3_Nonsense_Mutation_p.R302*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	302					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R302R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATACCTCTCGTTTATCAGAG	0.527													A	142625188	G	A	142625188	4	1	257	1	0	0	0	0	0	1	0	0	16596	1153	40	1	1321	1	TRPV5	7	142625188	Nonsense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	12267517	142625188	16513475	33	18009											
MLL3	58508	broad.mit.edu	37	7	151944990	151944990	+	Silent	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:151944990T>C	uc003wla.3	-	13	2748	c.2529A>G	c.(2527-2529)aaA>aaG	p.K843K		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	843					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCCTACCTGTTTGGACCGAG	0.368			N		medulloblastoma								C	151944990	T	C	151944990	2	2	257	1	0	0	0	0	0	0	0	1	9622	1722	60	4		4	MLL3	7	151944990	Silent	SNP	T	TCGA-76-4925-01A-01D-1486-08	9319802	151944990	7193673	34	18010											
EIF3H	8667	broad.mit.edu	37	8	117738327	117738327	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:117738327C>T	uc003yob.3	-	3	1026	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	EIF3H_uc003yoa.3_Missense_Mutation_p.E73K|EIF3H_uc011lhz.1_Missense_Mutation_p.E73K	NM_003756	NP_003747	O15372	EIF3H_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.	73	MPN.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AGCCGATCTTCTACAACCAGA	0.403													T	117738327	C	T	117738327	3	4	257	1	0	0	0	0	1	0	0	0	5018	922	32	3	869	3	EIF3H	8	117738327	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		117738327	28625695	35	18011											
FAM83H	286077	broad.mit.edu	37	8	144808899	144808899	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:144808899C>T	uc003yzk.3	-	4	2801	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	911					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTACCCCTGCGCTCGGGGTA	0.682													T	144808899	C	T	144808899	3	4	257	1	0	0	0	0	1	0	0	0	5640	768	27	1	811	1	FAM83H	8	144808899	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	27070572	144808899	1555123	36	18012											
DENND4C	55667	broad.mit.edu	37	9	19305352	19305352	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:19305352G>A	uc003znq.3	+	5	686	c.606G>A	c.(604-606)atG>atA	p.M202I	DENND4C_uc011lnc.2_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	202	DENN.					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						TTCCCCAGATGATCTTTCCAT	0.343													A	19305352	G	A	19305352	3	1	257	1	0	0	0	0	1	0	0	0	4435	1290	45	3	628	3	DENND4C	9	19305352	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		19305352	121908079	37	18013											
CYLC2	1539	broad.mit.edu	37	9	105763888	105763888	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:105763888A>T	uc004bbs.2	+	1	116	c.46A>T	c.(46-48)Aat>Tat	p.N16Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	16					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GCCATATGATAATTACATTCC	0.259													T	105763888	A	T	105763888	3	4	257	1	0	0	0	0	1	0	0	0	4142	362	13	5	52	5	CYLC2	9	105763888	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	86458536	105763888	35449543	38	18014											
C9orf84	158401	broad.mit.edu	37	9	114466161	114466161	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:114466161C>A	uc004bfr.3	-	20	2910	c.2775_splice	c.e20+1	p.Q925_splice	C9orf84_uc011lwt.2_Intron|C9orf84_uc004bfq.3_Splice_Site_p.Q886_splice|C9orf84_uc010mug.3_Splice_Site_p.Q836_splice	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	925										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTAGTTTTACCTGCAAAATTA	0.318													A	114466161	C	A	114466161	3	1	257	1	0	0	0	0	1	0	0	0	2500	695	24	5	1587	5	C9orf84	9	114466161	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	8702273	114466161	26747270	39	18015											
ENG	2022	broad.mit.edu	37	9	130605418	130605418	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:130605418G>A	uc004bsj.4	-	1	587	c.174C>T	c.(172-174)ccC>ccT	p.P58P	ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Silent_p.P58P|5S_rRNA_uc022bnt.1_5'Flank	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	58					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGATGGCATTGGGGGCCTGAG	0.602									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				A	130605418	G	A	130605418	2	1	257	1	0	0	0	0	0	0	0	1	5117	1335	47	3		3	ENG	9	130605418	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	16139257	130605418	10608013	40	18016											
MMRN2	79812	broad.mit.edu	37	10	88703548	88703548	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr10:88703548G>A	uc001kea.3	-	5	1120	c.993C>T	c.(991-993)gcC>gcT	p.A331A	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Silent_p.A288A	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	331						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGTCCACATCGGCTTGGAGCT	0.622													A	88703548	G	A	88703548	2	1	257	1	0	0	0	0	0	0	0	1	9671	1103	39	2		2	MMRN2	10	88703548	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08		88703548	46831199	41	18017											
PTEN	5728	broad.mit.edu	37	10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr10:89717715_89717716insA	uc001kfb.3	+	6	1772_1773	c.740_741insA	c.(739-741)ttafs	p.L247fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	247	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P248fs*5(13)|p.P246L(8)|p.R55fs*1(5)|p.L247*(5)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247F(2)|p.P246fs*11(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.L247fs*6(2)|p.L247fs*4(2)|p.L247fs*5(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.L247L(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.P246_L247insGP(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89717716	-	A	89717715	7	5	257	1	0	1	1	0	0	0	0	0	12738	1764	61	0	766	0	PTEN	10	89717715	Frame_Shift_Ins	INS	-	TCGA-76-4925-01A-01D-1486-08	1014167	89717715	45817032	42	18018											
ART1	417	broad.mit.edu	37	11	3681258	3681258	+	Missense_Mutation	SNP	G	G	A	rs141732093		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:3681258G>A	uc001lye.1	+	2	610	c.509G>A	c.(508-510)cGt>cAt	p.R170H	ART1_uc009yeb.1_Missense_Mutation_p.R170H	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	170					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGCGGCCAGCGTCCACCCCGG	0.701													A	3681258	G	A	3681258	3	1	257	1	0	0	0	0	1	0	0	0	997	1145	40	1	515	1	ART1	11	3681258	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		3681258	131325258	43	18019											
OR10A3	26496	broad.mit.edu	37	11	7960954	7960954	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:7960954G>A	uc010rbi.2	-	0	114	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCCCATCAGGGTCACCACAT	0.473													A	7960954	G	A	7960954	2	1	257	1	0	0	0	0	0	0	0	1	10891	1219	43	3		3	OR10A3	11	7960954	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	4279696	7960954	127045562	44	18020											
CALCA	796	broad.mit.edu	37	11	14991572	14991572	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:14991572C>T	uc001mlv.1	-	2	187	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	CALCA_uc001mlt.2_Missense_Mutation_p.E46K|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.E46K	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	46					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	AGGCGCGCTTCGTCCTCACTG	0.642											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	14991572	C	T	14991572	3	4	257	1	0	0	0	0	1	0	0	0	2575	893	31	2	461	2	CALCA	11	14991572	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	7030618	14991572	120014944	45	18021											
SYT13	57586	broad.mit.edu	37	11	45274024	45274024	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:45274024G>A	uc001myq.2	-	3	920	c.794C>T	c.(793-795)aCa>aTa	p.T265I	SYT13_uc009yku.1_Missense_Mutation_p.T121I	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	265						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGCACAGATGTCCCGTCCAG	0.647											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45274024	G	A	45274024	3	1	257	1	0	0	0	0	1	0	0	0	15466	1377	48	3	498	3	SYT13	11	45274024	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	30282452	45274024	89732492	46	18022											
OR8K3	219473	broad.mit.edu	37	11	56086116	56086116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:56086116delC	uc010rjf.2	+	0	334	c.334delC	c.(334-336)cttfs	p.L112fs		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112R(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGGTAGTGAACTTTTTATTCT	0.378													-	56086116	C	-	56086116	7	5	257	1	0	1	0	1	0	0	0	0	11244	565	20	0	336	0	OR8K3	11	56086116	Frame_Shift_Del	DEL	C	TCGA-76-4925-01A-01D-1486-08	10812092	56086116	78920400	47	18023											
TCN1	6947	broad.mit.edu	37	11	59629066	59629066	+	Missense_Mutation	SNP	C	C	T	rs77116206	by1000genomes	TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:59629066C>T	uc001noj.2	-	3	588	c.490G>A	c.(490-492)Gcc>Acc	p.A164T		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	164					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			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)	ACAACTTCGGCGGTTGAGTAG	0.453													T	59629066	C	T	59629066	3	4	257	1	0	0	0	0	1	0	0	0	15703	768	27	1	835	1	TCN1	11	59629066	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	3542950	59629066	75377450	48	18024											
MTA2	9219	broad.mit.edu	37	11	62364206	62364206	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:62364206C>T	uc001ntq.2	-	8	1175	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	MTA2_uc010rlx.1_Missense_Mutation_p.R89Q	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	262					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CATCTCATCCCGACACAGCAC	0.542													T	62364206	C	T	62364206	3	4	257	1	0	0	0	0	1	0	0	0	9909	652	23	2	1261	2	MTA2	11	62364206	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	2735140	62364206	72642310	49	18025											
SF1	7536	broad.mit.edu	37	11	64537728	64537728	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:64537728T>C	uc001obb.2	-	4	841	c.389_splice	c.e4+1	p.K130_splice	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Splice_Site_p.K104_splice|SF1_uc001oaz.2_Splice_Site_p.K255_splice|SF1_uc001oba.2_Splice_Site_p.K130_splice|SF1_uc001obd.2_Splice_Site_p.K130_splice|SF1_uc001obc.2_Splice_Site_p.K130_splice|SF1_uc001obe.2_Splice_Site_p.K15_splice|SF1_uc010rno.2_Splice_Site_p.K15_splice	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	130					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTCCGCTTACTTGTAATCTGC	0.532													C	64537728	T	C	64537728	3	2	257	1	0	0	0	0	1	0	0	0	14145	1623	56	4	1708	4	SF1	11	64537728	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	2173522	64537728	70468788	50	18026											
USP35	57558	broad.mit.edu	37	11	77921629	77921629	+	Missense_Mutation	SNP	A	A	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:77921629A>C	uc021qny.1	+	9	3084	c.2728A>C	c.(2728-2730)Acc>Ccc	p.T910P	USP35_uc001oze.2_Missense_Mutation_p.T666P|USP35_uc001ozc.3_Missense_Mutation_p.T478P|USP35_uc010rsp.2_Missense_Mutation_p.T342P|USP35_uc001ozd.3_Missense_Mutation_p.T521P|USP35_uc001ozf.3_Missense_Mutation_p.T641P	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	910					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CAGCAACGTCACCTCCTTCTT	0.572													C	77921629	A	C	77921629	3	2	257	1	0	0	0	0	1	0	0	0	17063	159	6	5	2762	5	USP35	11	77921629	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	13383901	77921629	57084887	51	18027											
MMP13	4322	broad.mit.edu	37	11	102822866	102822866	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:102822866C>T	uc001phl.3	-	4	703	c.674G>A	c.(673-675)gGc>gAc	p.G225D		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	225					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.G225F(2)|p.F224F(2)|p.G225V(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAAGGAGTGGCCGAACTCATG	0.443													T	102822866	C	T	102822866	3	4	257	1	0	0	0	0	1	0	0	0	9652	739	26	3	765	3	MMP13	11	102822866	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	24901237	102822866	32183650	52	18028											
IQSEC3	440073	broad.mit.edu	37	12	247574	247574	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:247574C>T	uc001qhw.2	+	3	1045	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	IQSEC3_uc001qhu.1_Missense_Mutation_p.R46W|LOC574538_uc001qhv.1_Non-coding_Transcript	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	349					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			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)		CCGCCTGCCACGGCGGATCTC	0.667													T	247574	C	T	247574	3	4	257	1	0	0	0	0	1	0	0	0	7819	527	19	1	1059	1	IQSEC3	12	247574	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		247574	133604321	53	18029											
CLEC4C	170482	broad.mit.edu	37	12	7898972	7898972	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:7898972C>T	uc001qtg.1	-	1	253	c.79G>A	c.(79-81)Gta>Ata	p.V27I	CLEC4C_uc001qth.1_Missense_Mutation_p.V27I|CLEC4C_uc001qti.1_Intron	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	27					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AAGATGGATACGACTGCCATG	0.483													T	7898972	C	T	7898972	3	4	257	1	0	0	0	0	1	0	0	0	3513	536	19	1	582	1	CLEC4C	12	7898972	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	7651398	7898972	125952923	54	18030											
C12orf51	283450	broad.mit.edu	37	12	112605619	112605619	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:112605619T>A	uc021reb.1	-	71	12306	c.11910_splice	c.e71+1	p.K3970_splice		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TCTGCCTACCTTGTTCTTATT	0.617													A	112605619	T	A	112605619	3	1	257	1	0	0	0	0	1	0	0	0	1696	1623	56	5	969	5	C12orf51	12	112605619	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	104706647	112605619	21246276	55	18031											
POLE2	5427	broad.mit.edu	37	14	50120778	50120778	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr14:50120778G>A	uc001wwu.3	-	14	1318	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_Missense_Mutation_p.L95F|POLE2_uc021rsr.1_Missense_Mutation_p.L355F|POLE2_uc010ano.3_Missense_Mutation_p.L381F	NM_002692	NP_002683	P56282	DPOE2_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA.	381					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.P380S(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTTTCAGCAAGTGGTGGCCTA	0.294													A	50120778	G	A	50120778	3	1	257	1	0	0	0	0	1	0	0	0	12197	1029	36	3	462	3	POLE2	14	50120778	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		50120778	57228762	56	18032											
MYO9A	4649	broad.mit.edu	37	15	72195395	72195395	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr15:72195395T>C	uc002atl.4	-	21	3360	c.2887A>G	c.(2887-2889)Agc>Ggc	p.S963G	MYO9A_uc010biq.3_Missense_Mutation_p.S583G|MYO9A_uc002atn.1_Missense_Mutation_p.S944G	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	963	Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGAAGTGGCTCACAAAATCC	0.269													C	72195395	T	C	72195395	3	2	257	1	0	0	0	0	1	0	0	0	10084	1551	54	4	4843	4	MYO9A	15	72195395	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08		72195395	30335997	57	18033											
IL16	3603	broad.mit.edu	37	15	81598457	81598457	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr15:81598457C>G	uc021ssh.1	+	15	3730	c.3629C>G	c.(3628-3630)aCt>aGt	p.T1210S	IL16_uc010blq.1_Missense_Mutation_p.T1164S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.T1252S|IL16_uc002bgg.3_Missense_Mutation_p.T1210S|IL16_uc002bgi.1_Missense_Mutation_p.T600S|IL16_uc002bgj.3_Missense_Mutation_p.T704S|IL16_uc021ssi.1_Missense_Mutation_p.T509S|IL16_uc002bgl.1_Missense_Mutation_p.T509S|IL16_uc010unq.1_Missense_Mutation_p.T509S	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1210					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AACTCCTCCACTGACTCTGCA	0.562													G	81598457	C	G	81598457	3	3	257	1	0	0	0	0	1	0	0	0	7633	565	20	5	3691	5	IL16	15	81598457	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	9403062	81598457	20932935	58	18034											
HS3ST6	64711	broad.mit.edu	37	16	1961835	1961835	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:1961835C>T	uc002cnf.3	-	1	692	c.692G>A	c.(691-693)cGc>cAc	p.R231H	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	231								p.R231H(3)		endometrium(2)|lung(2)	4						GTCCTGCACGCGGCCGACCTC	0.667													T	1961835	C	T	1961835	3	4	257	1	0	0	0	0	1	0	0	0	7369	768	27	1	247	1	HS3ST6	16	1961835	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		1961835	88392918	59	18035											
CLUAP1	23059	broad.mit.edu	37	16	3554767	3554767	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:3554767A>G	uc002cvk.1	+	1	175	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	CLUAP1_uc002cvj.1_Missense_Mutation_p.M24V	NM_015041	NP_079069	Q96AJ1	CLUA1_HUMAN	Homo sapiens clusterin associated protein 1 (CLUAP1), transcript variant 1, mRNA.	24						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ACATATTTCTATGGAAAATTT	0.408													G	3554767	A	G	3554767	3	3	257	1	0	0	0	0	1	0	0	0	3569	449	16	4	76	4	CLUAP1	16	3554767	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	1592932	3554767	86799986	60	18036											
PLCG2	5336	broad.mit.edu	37	16	81891938	81891938	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:81891938G>A	uc002fgt.3	+	3	586	c.408G>A	c.(406-408)gcG>gcA	p.A136A	PLCG2_uc010chg.1_Silent_p.A136A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	136					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGATGAATGCGTCCACGCCCA	0.478													A	81891938	G	A	81891938	2	1	257	1	0	0	0	0	0	0	0	1	12036	1132	40	1		1	PLCG2	16	81891938	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	78337171	81891938	8462815	61	18037											
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	G	rs67185453		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr17:7577535C>G	uc002gim.2	-	6	940	c.746G>C	c.(745-747)aGg>aCg	p.R249T	TP53_uc002gig.1_Missense_Mutation_p.R249T|TP53_uc002gih.3_Missense_Mutation_p.R249T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R117T|TP53_uc010cnf.1_Missense_Mutation_p.R117T|TP53_uc002gii.1_Missense_Mutation_p.R117T|TP53_uc010cni.1_Missense_Mutation_p.R249T|TP53_uc010cnh.1_Missense_Mutation_p.R249T|TP53_uc002gij.2_Missense_Mutation_p.R249T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156T|TP53_uc002gio.2_Missense_Mutation_p.R117T|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R248Q(565)|p.R248W(513)|p.R249S(326)|p.R248L(70)|p.R249M(69)|p.R249K(36)|p.R249T(32)|p.R249W(31)|p.R249G(28)|p.R248P(16)|p.R248G(12)|p.R249fs*96(10)|p.R248R(10)|p.0?(8)|p.R249R(6)|p.?(5)|p.M246_P250delMNRRP(4)|p.R249fs*14(3)|p.N247_P250delNRRP(2)|p.R249_I251delRPI(2)|p.N247_R248>KW(2)|p.R249_P250delRP(2)|p.N247_R248delNR(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248fs*97(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250insR(1)|p.R248Y(1)|p.R248C(1)|p.N247_R248>IP(1)|p.R249_P250>SS(1)|p.R248fs*16(1)|p.R249fs*15(1)|p.R249fs*19(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)		GAGGATGGGCCTCCGGTTCAT	0.567		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)			G	7577535	C	G	7577535	3	3	257	1	0	0	0	0	1	0	0	0	16378	681	24	5	544	5	TP53	17	7577535	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		7577535	73617675	62	18038											
DDX5	1655	broad.mit.edu	37	17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr17:62500099_62500102delACAG	uc010deh.2	-	4	484	c.441_splice	c.e4+1	p.S147_splice	DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								-	62500102	ACAG	-	62500099	8	5	257	1	0	1	0	1	0	0	1	0	4367	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-76-4925-01A-01D-1486-08	54922564	62500099	18695111	63	18039											
GATA6	2627	broad.mit.edu	37	18	19762767	19762767	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr18:19762767G>A	uc002ktt.1	+	4	1743	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	GATA6_uc002ktu.1_Missense_Mutation_p.R493Q	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	493					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACCAGGAAACGAAAACCTAAG	0.313													A	19762767	G	A	19762767	3	1	257	1	0	0	0	0	1	0	0	0	6258	1058	37	2	1492	2	GATA6	18	19762767	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		19762767	58314481	64	18040											
CREB3L3	84699	broad.mit.edu	37	19	4168400	4168400	+	Missense_Mutation	SNP	C	C	T	rs147422200	by1000genomes	TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:4168400C>T	uc002lzl.3	+	5	883	c.767C>T	c.(766-768)tCg>tTg	p.S256L	CREB3L3_uc002lzm.3_Missense_Mutation_p.S246L|CREB3L3_uc010xib.2_Missense_Mutation_p.S245L|CREB3L3_uc010xic.2_Intron	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	256					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAGCAGTCGGCGCAAGAA	0.532													T	4168400	C	T	4168400	3	4	257	1	0	0	0	0	1	0	0	0	3858	893	31	2	789	2	CREB3L3	19	4168400	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		4168400	54960583	65	18041											
RAVER1	125950	broad.mit.edu	37	19	10434119	10434119	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:10434119C>T	uc002moa.3	-	3	1011	c.931G>A	c.(931-933)Gtc>Atc	p.V311I		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	294	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGAAGGAGACTCGCAGGTGG	0.716													T	10434119	C	T	10434119	3	4	257	1	0	0	0	0	1	0	0	0	13094	565	20	3	1379	3	RAVER1	19	10434119	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	6265719	10434119	48694864	66	18042											
GATAD2A	54815	broad.mit.edu	37	19	19576172	19576172	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:19576172C>T	uc010xqt.2	+	1	330	c.18C>T	c.(16-18)tgC>tgT	p.C6C	GATAD2A_uc010xqu.2_5'UTR|GATAD2A_uc010xqv.2_Silent_p.C25C|GATAD2A_uc010xqw.2_5'UTR	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	6					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			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGAAGCATGCCGAACACGGA	0.473													T	19576172	C	T	19576172	2	4	257	1	0	0	0	0	0	0	0	1	6260	747	26	3		3	GATAD2A	19	19576172	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	9142053	19576172	39552811	67	18043											
PLEKHG2	64857	broad.mit.edu	37	19	39908646	39908646	+	Silent	SNP	C	C	G			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:39908646C>G	uc010xuz.2	+	8	1309	c.984C>G	c.(982-984)ccC>ccG	p.P328P	PLEKHG2_uc010xuy.2_Silent_p.P269P|PLEKHG2_uc002olj.3_Silent_p.P328P|PLEKHG2_uc010xva.2_Silent_p.P135P	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	328	PH.				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			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGGTGGCCCCCGGCTACGAG	0.662													G	39908646	C	G	39908646	2	3	257	1	0	0	0	0	0	0	0	1	12069	610	22	5		5	PLEKHG2	19	39908646	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	20332474	39908646	19220337	68	18044											
KLK5	25818	broad.mit.edu	37	19	51453308	51453308	+	Silent	SNP	G	G	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:51453308G>A	uc002pue.3	-	3	356	c.138C>T	c.(136-138)agC>agT	p.S46S	KLK5_uc002puf.3_Silent_p.S46S|KLK5_uc002pug.3_Silent_p.S46S	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	46				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.S46C(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGTCCTGGTTGCTCCCAGAGG	0.612													A	51453308	G	A	51453308	2	1	257	1	0	0	0	0	0	0	0	1	8407	1310	46	3		3	KLK5	19	51453308	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	11544662	51453308	7675675	69	18045											
GFRA4	64096	broad.mit.edu	37	20	3641311	3641311	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:3641311delC	uc002wio.3	-	2	589	c.589delG	c.(589-591)gcafs	p.A197fs	GFRA4_uc002win.3_Intron|GFRA4_uc002wip.1_Frame_Shift_Del_p.P170fs	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	197						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						GCGGTGCCTGCGGGGACCCTG	0.731													-	3641311	C	-	3641311	7	5	257	1	0	1	0	1	0	0	0	0	6350	768	27	0	322	0	GFRA4	20	3641311	Frame_Shift_Del	DEL	C	TCGA-76-4925-01A-01D-1486-08		3641311	59384209	70	18046											
PROKR2	128674	broad.mit.edu	37	20	5283350	5283350	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:5283350C>T	uc010zqw.2	-	1	499	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	PROKR2_uc010zqx.2_Missense_Mutation_p.R164Q|PROKR2_uc010zqy.2_Missense_Mutation_p.R164Q	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	164			R -> Q (in KAL3).			integral to membrane|plasma membrane	neuropeptide Y receptor activity			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						ATAATTCATCCGTGGTTTCAA	0.493										HNSCC(71;0.22)			T	5283350	C	T	5283350	3	4	257	1	0	0	0	0	1	0	0	0	12553	652	23	2	666	2	PROKR2	20	5283350	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	1642039	5283350	57742170	71	18047											
TFAP2C	7022	broad.mit.edu	37	20	55206728	55206728	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:55206728C>A	uc002xya.3	+	1	759	c.516C>A	c.(514-516)caC>caA	p.H172Q	TFAP2C_uc010zzi.2_Missense_Mutation_p.H3Q	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	172					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACATGCCTCACCAGATGGACG	0.711													A	55206728	C	A	55206728	3	1	257	1	0	0	0	0	1	0	0	0	15786	506	18	5	522	5	TFAP2C	20	55206728	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	49923378	55206728	7818792	72	18048											
TMPRSS15	5651	broad.mit.edu	37	21	19698772	19698772	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr21:19698772G>T	uc002ykw.3	-	15	1929	c.1898C>A	c.(1897-1899)aCt>aAt	p.T633N		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	633	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTGATAGCCAGTAGTAAAGTT	0.438													T	19698772	G	T	19698772	3	4	257	1	0	0	0	0	1	0	0	0	16243	1029	36	5	1201	5	TMPRSS15	21	19698772	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		19698772	28431123	73	18049											
BHLHB9	80823	broad.mit.edu	37	X	102004405	102004405	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chrX:102004405C>T	uc022cbi.1	+	0	482	c.482C>T	c.(481-483)cCt>cTt	p.P161L	BHLHB9_uc010nog.3_Missense_Mutation_p.P161L|BHLHB9_uc011mrq.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrr.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrs.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrt.2_Missense_Mutation_p.P161L|BHLHB9_uc004ejo.3_Missense_Mutation_p.P161L|BHLHB9_uc011mru.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrv.2_Missense_Mutation_p.P161L	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	161						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GATTGCAAACCTAGGTCAGGG	0.493													T	102004405	C	T	102004405	3	4	257	1	0	0	0	0	1	0	0	0	1420	681	24	3	484	3	BHLHB9	23	102004405	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		102004405	53266155	74	18050											
FAM127C	441518	broad.mit.edu	37	X	134156181	134156181	+	Silent	SNP	C	C	T			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chrX:134156181C>T	uc004eyc.1	-	0	386	c.309G>A	c.(307-309)cgG>cgA	p.R103R		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	Homo sapiens family with sequence similarity 127, member C (FAM127C), mRNA.	103										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					ATCCAAAGACCCGCTTCATCT	0.667													T	134156181	C	T	134156181	2	4	257	1	0	0	0	0	0	0	0	1	5433	610	22	3		3	FAM127C	23	134156181	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	32151776	134156181	21114379	75	18051											
ATAD3B	83858	broad.mit.edu	37	1	1412700	1412700	+	Silent	SNP	G	G	A	rs142559400	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:1412700G>A	uc001afv.3	+	1	353	c.252G>A	c.(250-252)acG>acA	p.T84T	ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.3_5'Flank	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	84							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGAGCAGACGCTGCAGTTGG	0.632													A	1412700	G	A	1412700	2	1	258	1	0	0	0	0	0	0	0	1	1074	1074	38	1		1	ATAD3B	1	1412700	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08		1412700	247837921	1	18052											
MMEL1	79258	broad.mit.edu	37	1	2524281	2524281	+	Silent	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:2524281G>A	uc001ajy.2	-	19	2206	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	664					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGTTCTGTTCGTCTGCCAGGT	0.637													A	2524281	G	A	2524281	2	1	258	1	0	0	0	0	0	0	0	1	9646	1136	40	1		1	MMEL1	1	2524281	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08	1111581	2524281	246726340	2	18053											
PLEKHM2	23207	broad.mit.edu	37	1	16044415	16044415	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:16044415A>G	uc010obo.2	+	3	532	c.305A>G	c.(304-306)aAc>aGc	p.N102S		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	102	Interaction with KIF5B.|RUN.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		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)		CTGGCCCTCAACGAGAACTCC	0.572													G	16044415	A	G	16044415	3	3	258	1	0	0	0	0	1	0	0	0	12081	43	2	4	319	4	PLEKHM2	1	16044415	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	13520134	16044415	233206206	3	18054											
ZSWIM5	57643	broad.mit.edu	37	1	45508897	45508897	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:45508897A>G	uc001cnd.2	-	5	1831	c.1603T>C	c.(1603-1605)Tgg>Cgg	p.W535R		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	535							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTACCAAGCCACAGTGGCTGG	0.488													G	45508897	A	G	45508897	3	3	258	1	0	0	0	0	1	0	0	0	18241	159	6	4	1990	4	ZSWIM5	1	45508897	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	29464482	45508897	203741724	4	18055											
VPS45	11311	broad.mit.edu	37	1	150049176	150049176	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:150049176G>A	uc001etp.3	+	5	1016	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.2_Missense_Mutation_p.R112Q|VPS45_uc010pbs.2_Intron|VPS45_uc001etq.3_5'Flank|VPS45_uc009wlm.1_Intron|VPS45_uc010pbr.1_Missense_Mutation_p.R112Q	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	148					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAAGGGTCGAAATTGGGAT	0.353													A	150049176	G	A	150049176	3	1	258	1	0	0	0	0	1	0	0	0	17208	1058	37	2	465	2	VPS45	1	150049176	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	104540279	150049176	99201445	5	18056											
KPRP	448834	broad.mit.edu	37	1	152733551	152733551	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:152733551G>A	uc001fal.1	+	1	1545	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	KPRP_uc021ozf.1_Missense_Mutation_p.R496H	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	496	Pro-rich.					cytoplasm		p.R496H(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACTTGGCGCAGCCCCAGC	0.647													A	152733551	G	A	152733551	3	1	258	1	0	0	0	0	1	0	0	0	8436	1087	38	1	1489	1	KPRP	1	152733551	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	2684375	152733551	96517070	6	18057											
KIF26B	55083	broad.mit.edu	37	1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:245862232G>A	uc001ibf.1	+	13	6511	c.6071G>A	c.(6070-6072)cGc>cAc	p.R2024H		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2024H(2)|p.H2023Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													A	245862232	G	A	245862232	3	1	258	1	0	0	0	0	1	0	0	0	8295	1087	38	1	6125	1	KIF26B	1	245862232	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	93128681	245862232	3388389	7	18058											
OR2W3	343171	broad.mit.edu	37	1	248059267	248059267	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:248059267T>G	uc010pzb.2	+	0	379	c.379T>G	c.(379-381)Tgc>Ggc	p.C127G	OR2W3_uc001idp.1_Missense_Mutation_p.C127G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			TGTGGCTATCTGCAAGCCCCT	0.607													G	248059267	T	G	248059267	3	3	258	1	0	0	0	0	1	0	0	0	11033	1580	55	5	381	5	OR2W3	1	248059267	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	2197035	248059267	1191354	8	18059											
TPO	7173	broad.mit.edu	37	2	1457495	1457495	+	Missense_Mutation	SNP	C	C	T	rs139312937		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr2:1457495C>T	uc002qwr.3	+	5	598	c.512C>T	c.(511-513)aCg>aTg	p.T171M	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.T171M|TPO_uc002qwx.3_Missense_Mutation_p.T171M|TPO_uc002qwu.3_Missense_Mutation_p.T171M|TPO_uc010yio.2_Missense_Mutation_p.T171M|TPO_uc010yip.2_Missense_Mutation_p.T171M	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	171					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.T171M(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCTCCAACACGGCCCTGGCA	0.587													T	1457495	C	T	1457495	3	4	258	1	0	0	0	0	1	0	0	0	16407	536	19	1	530	1	TPO	2	1457495	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		1457495	241741878	9	18060											
TTN	7273	broad.mit.edu	37	2	179438088	179438088	+	Silent	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr2:179438088A>G	uc021vsy.1	-	274	65292	c.65067T>C	c.(65065-65067)taT>taC	p.Y21689Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y15384Y|TTN_uc021vta.1_Silent_p.Y15317Y|TTN_uc021vtb.1_Silent_p.Y15192Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22616	Fibronectin type-III 57.						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)			GTTCCACAATATAATTGATGA	0.408													G	179438088	A	G	179438088	2	3	258	1	0	0	0	0	0	0	0	1	16732	456	16	4		4	TTN	2	179438088	Silent	SNP	A	TCGA-76-4926-01B-01D-1486-08	177980593	179438088	63761285	10	18061											
CELSR3	1951	broad.mit.edu	37	3	48694272	48694272	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr3:48694272G>A	uc003cuf.1	-	3	4468	c.4468C>T	c.(4468-4470)Cgc>Tgc	p.R1490C	CELSR3_uc003cul.3_Missense_Mutation_p.R1420C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1420	EGF-like 3; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCGGCAGCGCAGGCCAGCG	0.672													A	48694272	G	A	48694272	3	1	258	1	0	0	0	0	1	0	0	0	3223	1087	38	1	5816	1	CELSR3	3	48694272	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		48694272	149328158	11	18062											
LRRC66	339977	broad.mit.edu	37	4	52862310	52862310	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:52862310C>A	uc003gzi.3	-	3	885	c.878G>T	c.(877-879)gGc>gTc	p.G293V		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	293						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGGGGAGTGCCCCCGTTGGC	0.483													A	52862310	C	A	52862310	3	1	258	1	0	0	0	0	1	0	0	0	9018	739	26	5	1768	5	LRRC66	4	52862310	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		52862310	138291966	12	18063											
FRAS1	80144	broad.mit.edu	37	4	79421050	79421050	+	Silent	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:79421050G>A	uc003hlb.2	+	60	9731	c.9291G>A	c.(9289-9291)aaG>aaA	p.K3097K	FRAS1_uc003hlc.1_Silent_p.K99K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3092	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			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						ATTACCCAAAGAGCCGAGTCT	0.483													A	79421050	G	A	79421050	2	1	258	1	0	0	0	0	0	0	0	1	6042	933	33	3		3	FRAS1	4	79421050	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08	26558740	79421050	111733226	13	18064											
PRKG2	5593	broad.mit.edu	37	4	82126062	82126062	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:82126062C>T	uc003hmh.2	-	0	153	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	PRKG2_uc011cch.1_Missense_Mutation_p.R47Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	47					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ATGGTACTCCCGCTCCTGGAT	0.557													T	82126062	C	T	82126062	3	4	258	1	0	0	0	0	1	0	0	0	12523	652	23	2	2220	2	PRKG2	4	82126062	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	2705012	82126062	109028214	14	18065											
RXFP1	59350	broad.mit.edu	37	4	159533468	159533468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:159533468C>T	uc003ipz.3	+	7	897	c.634C>T	c.(634-636)Cga>Tga	p.R212*	RXFP1_uc010iqj.2_Nonsense_Mutation_p.R41*|RXFP1_uc010iqk.3_Nonsense_Mutation_p.R80*|RXFP1_uc011cja.2_Nonsense_Mutation_p.R131*|RXFP1_uc010iqo.3_Nonsense_Mutation_p.R212*|RXFP1_uc011cjb.2_Nonsense_Mutation_p.R158*|RXFP1_uc011cjc.2_Nonsense_Mutation_p.R131*|RXFP1_uc011cjd.2_Nonsense_Mutation_p.R131*|RXFP1_uc010iql.3_Nonsense_Mutation_p.R80*|RXFP1_uc011cje.2_Nonsense_Mutation_p.R239*|RXFP1_uc010iqm.3_Nonsense_Mutation_p.R179*|RXFP1_uc011cjf.2_Nonsense_Mutation_p.R82*|RXFP1_uc010iqn.3_Nonsense_Mutation_p.R158*	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCACCTCAGTCGAATTTCCCC	0.294													T	159533468	C	T	159533468	4	4	258	1	0	0	0	0	0	1	0	0	13759	876	31	2	664	2	RXFP1	4	159533468	Nonsense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	77407406	159533468	31620808	15	18066											
SLC6A18	348932	broad.mit.edu	37	5	1244838	1244838	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:1244838C>T	uc003jby.2	+	10	1735	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	538					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CATCATCCTCCTGTTCTGGAA	0.617													T	1244838	C	T	1244838	2	4	258	1	0	0	0	0	0	0	0	1	14681	680	24	3		3	SLC6A18	5	1244838	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08		1244838	179670422	16	18067											
NSUN2	54888	broad.mit.edu	37	5	6622137	6622137	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:6622137G>A	uc003jdu.3	-	5	995	c.614C>T	c.(613-615)cCc>cTc	p.P205L	NSUN2_uc003jdt.3_5'Flank|NSUN2_uc011cmk.2_Missense_Mutation_p.P170L|NSUN2_uc003jdv.3_Intron	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	205						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.V204A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACCTGGAAAGGGGACATTCAT	0.413													A	6622137	G	A	6622137	3	1	258	1	0	0	0	0	1	0	0	0	10678	1232	43	3	1745	3	NSUN2	5	6622137	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	5377299	6622137	174293123	17	18068											
UTP15	84135	broad.mit.edu	37	5	72866479	72866480	+	Nonsense_Mutation	DNP	GG	GG	TA			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:72866479_72866480GG>TA	uc003kcw.1	+	5	839_840	c.616_617GG>TA	c.(616-618)ggg>TAg	p.G206*	UTP15_uc011cso.1_Nonsense_Mutation_p.G187*|UTP15_uc011csp.1_Nonsense_Mutation_p.G16*|UTP15_uc010ize.1_Nonsense_Mutation_p.G206*	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	206					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CGTTGAGCATGGGCAGCCAGTG	0.401													TA	72866480	GG	TA	72866479	4	4	258	1	0	0	0	0	0	1	0	0	17094	1348	47	5	634	5	UTP15	5	72866479	Nonsense_Mutation	DNP	GG	TCGA-76-4926-01B-01D-1486-08	66244342	72866479	108048781	18	18069											
CMYA5	202333	broad.mit.edu	37	5	79026182	79026182	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:79026182G>A	uc003kgc.3	+	1	1666	c.1594G>A	c.(1594-1596)Gta>Ata	p.V532I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	532	Glu-rich.					perinuclear region of cytoplasm		p.I531I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGAGATCGTAGAACTTGA	0.418													A	79026182	G	A	79026182	3	1	258	1	0	0	0	0	1	0	0	0	3590	1145	40	1	1600	1	CMYA5	5	79026182	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	6159703	79026182	101889078	19	18070											
PCDHGC5	56114	broad.mit.edu	37	5	140712004	140712004	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:140712004G>A	uc003lji.2	+	0	1753	c.1753G>A	c.(1753-1755)Ggc>Agc	p.G585S	PCDHGC5_uc011dan.2_Missense_Mutation_p.G585S	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	586	Cadherin 6.				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)			CGCAGAGCCCGGCTACCTGGT	0.677													A	140712004	G	A	140712004	3	1	258	1	0	0	0	0	1	0	0	0	11571	1116	39	2		2	PCDHGC5	5	140712004	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	61685822	140712004	40203256	20	18071											
BTN1A1	696	broad.mit.edu	37	6	26508920	26508920	+	Silent	SNP	A	A	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:26508920A>C	uc003nif.4	+	6	1156	c.1099A>C	c.(1099-1101)Agg>Cgg	p.R367R		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	367	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGTGGGAGACAGGACTGACTG	0.532													C	26508920	A	C	26508920	2	2	258	1	0	0	0	0	0	0	0	1	1559	179	7	5		5	BTN1A1	6	26508920	Silent	SNP	A	TCGA-76-4926-01B-01D-1486-08		26508920	144606147	21	18072											
KCTD20	222658	broad.mit.edu	37	6	36437942	36437942	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:36437942A>G	uc003ome.3	+	1	459	c.68A>G	c.(67-69)gAt>gGt	p.D23G	KCTD20_uc011dtn.2_5'UTR|KCTD20_uc010jwk.3_Missense_Mutation_p.D23G|KCTD20_uc011dto.2_Intron|KCTD20_uc011dtm.2_5'UTR	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	23						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTAGTGGATGATACTTTAGCT	0.473													G	36437942	A	G	36437942	3	3	258	1	0	0	0	0	1	0	0	0	8108	333	12	4	70	4	KCTD20	6	36437942	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	9929022	36437942	134677125	22	18073											
TFAP2D	83741	broad.mit.edu	37	6	50740520	50740520	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:50740520C>T	uc003paf.3	+	7	1814	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	434							DNA binding|sequence-specific DNA binding transcription factor activity			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)					AGAAAGCTCCCCTGCGGAAAA	0.483													T	50740520	C	T	50740520	2	4	258	1	0	0	0	0	0	0	0	1	15787	610	22	3		3	TFAP2D	6	50740520	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	14302578	50740520	120374547	23	18074											
IBTK	25998	broad.mit.edu	37	6	82924063	82924066	+	Frame_Shift_Del	DEL	ACTA	ACTA	-			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:82924063_82924066delACTA	uc003pjl.1	-	11	2609_2612	c.2082_2085delTAGT	c.(2080-2085)gttagtfs	p.V694fs	IBTK_uc011dyv.1_Frame_Shift_Del_p.V694fs|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Frame_Shift_Del_p.V388fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.V694fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	694					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCTGCCTCTCACTAACTGTTTGAG	0.338													-	82924066	ACTA	-	82924063	7	5	258	1	0	1	0	1	0	0	0	0	7476	156	6	0	2048	0	IBTK	6	82924063	Frame_Shift_Del	DEL	ACTA	TCGA-76-4926-01B-01D-1486-08	32183543	82924063	88191004	24	18075											
HDAC9	9734	broad.mit.edu	37	7	18624954	18624954	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:18624954G>A	uc003sui.3	+	1	114	c.73G>A	c.(73-75)Gac>Aac	p.D25N	HDAC9_uc003sue.3_Missense_Mutation_p.D25N|HDAC9_uc011jyd.2_Missense_Mutation_p.D25N|HDAC9_uc003suh.3_Missense_Mutation_p.D25N|HDAC9_uc003suj.3_Missense_Mutation_p.D25N|HDAC9_uc011jya.2_Missense_Mutation_p.D67N|HDAC9_uc003sua.1_Missense_Mutation_p.D44N|HDAC9_uc003sud.2_Missense_Mutation_p.D25N|HDAC9_uc011jyc.2_Missense_Mutation_p.D25N|HDAC9_uc011jyb.2_Missense_Mutation_p.D25N|HDAC9_uc003suf.2_Missense_Mutation_p.D53N|HDAC9_uc010kud.2_Missense_Mutation_p.D25N|HDAC9_uc011jye.2_5'UTR|HDAC9_uc011jyf.2_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	25	Interaction with CTBP1 (By similarity).				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)	CTCACCTTTAGACCTAAGGAC	0.498													A	18624954	G	A	18624954	3	1	258	1	0	0	0	0	1	0	0	0	7014	942	33	3	79	3	HDAC9	7	18624954	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		18624954	140513709	25	18076											
BMPER	168667	broad.mit.edu	37	7	34118619	34118619	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:34118619G>A	uc011kap.2	+	12	1603	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	410	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACGACGCCCGCCGGACACGC	0.622													A	34118619	G	A	34118619	3	1	258	1	0	0	0	0	1	0	0	0	1468	1087	38	1	1275	1	BMPER	7	34118619	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	15493665	34118619	125020044	26	18077											
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220274	C	T	55220274	3	4	258	1	0	0	0	0	1	0	0	0	4967	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	21101655	55220274	103918389	27	18078											
NSUN5	55695	broad.mit.edu	37	7	72722785	72722785	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:72722785C>T	uc003txw.3	-	0	80	c.3G>A	c.(1-3)atG>atA	p.M1I	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.M1I|NSUN5_uc003txv.3_Missense_Mutation_p.M1I|NSUN5_uc003txx.3_Missense_Mutation_p.M1I	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	1							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CATACAGCCCCATGTTCCCGC	0.657													T	72722785	C	T	72722785	3	4	258	1	0	0	0	0	1	0	0	0	10681	594	21	3	1458	3	NSUN5	7	72722785	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	17502511	72722785	86415878	28	18079											
OR2A5	393046	broad.mit.edu	37	7	143748358	143748359	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:143748358_143748359insA	uc011ktw.2	+	0	864_865	c.864_865insA	c.(862-867)ttgatcfs	p.L288fs		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGAACCCCTTGATCTATAGCCT	0.525													A	143748359	-	A	143748358	7	5	258	1	0	1	1	0	0	0	0	0	10981	1281	45	0	866	0	OR2A5	7	143748358	Frame_Shift_Ins	INS	-	TCGA-76-4926-01B-01D-1486-08	71025573	143748358	15390305	29	18080											
NEFM	4741	broad.mit.edu	37	8	24775980	24775980	+	Missense_Mutation	SNP	A	A	G	rs145571992		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:24775980A>G	uc003xed.4	+	2	2645	c.2612A>G	c.(2611-2613)aAa>aGa	p.K871R	NEFM_uc011lac.1_Missense_Mutation_p.K653R|NEFM_uc010lue.3_Missense_Mutation_p.K495R	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	871	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGTGCTACCAAATACATCACT	0.428													G	24775980	A	G	24775980	3	3	258	1	0	0	0	0	1	0	0	0	10316	14	1	4	2622	4	NEFM	8	24775980	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08		24775980	121588042	30	18081											
RB1CC1	9821	broad.mit.edu	37	8	53570293	53570293	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:53570293G>A	uc003xre.4	-	14	2654	c.2096C>T	c.(2095-2097)aCg>aTg	p.T699M	RB1CC1_uc003xrf.4_Missense_Mutation_p.T699M	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	699					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAATCAAACGTATGTGCATC	0.398													A	53570293	G	A	53570293	3	1	258	1	0	0	0	0	1	0	0	0	13099	1145	40	1	2728	1	RB1CC1	8	53570293	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	28794313	53570293	92793729	31	18082											
RIMS2	9699	broad.mit.edu	37	8	104898339	104898339	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:104898339C>T	uc003yls.3	+	1	1087	c.846C>T	c.(844-846)ggC>ggT	p.G282G	RIMS2_uc003ylp.3_Silent_p.G504G|RIMS2_uc003ylw.2_Silent_p.G312G|RIMS2_uc003ylq.3_Silent_p.G312G|RIMS2_uc003ylr.3_Silent_p.G312G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	535					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			CAAAGAAAGGCGGTAAAATGC	0.433										HNSCC(12;0.0054)			T	104898339	C	T	104898339	2	4	258	1	0	0	0	0	0	0	0	1	13368	755	27	1		1	RIMS2	8	104898339	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	51328046	104898339	41465683	32	18083											
RIMS2	9699	broad.mit.edu	37	8	105257209	105257209	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:105257209A>T	uc003yls.3	+	23	3695	c.3454A>T	c.(3454-3456)Atg>Ttg	p.M1152L	RIMS2_uc003ylp.3_Missense_Mutation_p.M1134L|RIMS2_uc003ylw.2_Missense_Mutation_p.M1141L|RIMS2_uc003ylq.3_Missense_Mutation_p.M948L|RIMS2_uc003ylr.3_Missense_Mutation_p.M973L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1196					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			GGCCGTGGAAATGAGGAACTG	0.473										HNSCC(12;0.0054)			T	105257209	A	T	105257209	3	4	258	1	0	0	0	0	1	0	0	0	13368	101	4	5	3674	5	RIMS2	8	105257209	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	358870	105257209	41106813	33	18084											
TG	7038	broad.mit.edu	37	8	134107297	134107297	+	Missense_Mutation	SNP	G	G	A	rs139465983	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:134107297G>A	uc003ytw.3	+	41	7290	c.7249G>A	c.(7249-7251)Gca>Aca	p.A2417T	TG_uc010mdw.3_Missense_Mutation_p.A1176T|TG_uc011ljb.2_Missense_Mutation_p.A786T|TG_uc011ljc.2_Missense_Mutation_p.A550T|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2417					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			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)		GGGAGGCTCCGCACTCTCCCC	0.587													A	134107297	G	A	134107297	3	1	258	1	0	0	0	0	1	0	0	0	15810	1087	38	1	7415	1	TG	8	134107297	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	28850088	134107297	12256725	34	18085											
CYP11B2	1585	broad.mit.edu	37	8	143999226	143999226	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:143999226C>T	uc003yxk.1	-	0	34	c.31G>A	c.(31-33)Gtg>Atg	p.V11M		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	11					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCGCTGCCACGCACACCTCT	0.612									Familial Hyperaldosteronism type I				T	143999226	C	T	143999226	3	4	258	1	0	0	0	0	1	0	0	0	4146	536	19	1	1516	1	CYP11B2	8	143999226	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	9891929	143999226	2364796	35	18086											
RECQL4	9401	broad.mit.edu	37	8	145737371	145737371	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:145737371G>A	uc003zdj.3	-	19	3358	c.3316C>T	c.(3316-3318)Cgc>Tgc	p.R1106C		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	1106			R -> H (in dbSNP:rs34236392).		DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAAAGTAGCGGCCGAGCAGG	0.677			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				A	145737371	G	A	145737371	3	1	258	1	0	0	0	0	1	0	0	0	13202	1116	39	2	322	2	RECQL4	8	145737371	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	1738145	145737371	626651	36	18087											
BNC2	54796	broad.mit.edu	37	9	16435843	16435843	+	Silent	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:16435843G>A	uc003zml.3	-	5	2489	c.2349C>T	c.(2347-2349)taC>taT	p.Y783Y	BNC2_uc011lmw.2_Silent_p.Y688Y|BNC2_uc003zmm.3_Silent_p.Y741Y|BNC2_uc003zmq.1_Silent_p.Y797Y|BNC2_uc003zmr.1_Silent_p.Y820Y|BNC2_uc003zmp.1_Silent_p.Y811Y|BNC2_uc010mij.1_Silent_p.Y705Y|BNC2_uc011lmv.2_Silent_p.Y609Y|BNC2_uc003zmo.1_Silent_p.Y705Y|BNC2_uc003zmj.3_Silent_p.Y548Y|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.Y548Y|BNC2_uc003zmn.1_Silent_p.Y548Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AAAACATGTCGTAAGTGGGGT	0.493													A	16435843	G	A	16435843	2	1	258	1	0	0	0	0	0	0	0	1	1475	1140	40	1		1	BNC2	9	16435843	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08		16435843	124777588	37	18088											
PGM5	5239	broad.mit.edu	37	9	71098902	71098902	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:71098902G>A	uc004agr.3	+	8	1646	c.1417G>A	c.(1417-1419)Gtg>Atg	p.V473M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	473					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						TGTCTACAGCGTGGCGAAGAC	0.502													A	71098902	G	A	71098902	3	1	258	1	0	0	0	0	1	0	0	0	11801	1145	40	1	1451	1	PGM5	9	71098902	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	54663059	71098902	70114529	38	18089											
NACC2	138151	broad.mit.edu	37	9	138903727	138903727	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:138903727G>A	uc004cgv.4	-	5	1555	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	NACC2_uc010nbh.3_Missense_Mutation_p.R106C	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.	467					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						ATGACCGTGCGGTACATCTCC	0.697													A	138903727	G	A	138903727	3	1	258	1	0	0	0	0	1	0	0	0	10136	1116	39	2	368	2	NACC2	9	138903727	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	67804825	138903727	2309704	39	18090											
CACNA1B	774	broad.mit.edu	37	9	141012523	141012523	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:141012523C>G	uc004cog.3	+	41	6042	c.5897C>G	c.(5896-5898)tCa>tGa	p.S1966*	CACNA1B_uc022bqn.1_Nonsense_Mutation_p.S1966*|CACNA1B_uc004coi.3_Nonsense_Mutation_p.S1180*	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1968					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGGGGCGGTCAGGAGCACTG	0.637													G	141012523	C	G	141012523	4	3	258	1	0	0	0	0	0	1	0	0	2539	838	29	5	6069	5	CACNA1B	9	141012523	Nonsense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	2108796	141012523	200908	40	18091											
ARHGAP21	57584	broad.mit.edu	37	10	24893240	24893240	+	Splice_Site	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr10:24893240C>T	uc001isb.2	-	12	3208	c.2721_splice	c.e12+1	p.K907_splice	ARHGAP21_uc010qdb.1_Splice_Site|ARHGAP21_uc009xkl.1_Splice_Site_p.K907_splice|ARHGAP21_uc010qdc.1_Splice_Site_p.K742_splice	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	906					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTAATACCAACCTTGATTCCC	0.279													T	24893240	C	T	24893240	5	4	258	1	0	0	0	0	0	0	1	0	871	521	18	3	3214	3	ARHGAP21	10	24893240	Splice_Site	SNP	C	TCGA-76-4926-01B-01D-1486-08		24893240	110641507	41	18092			1	40		2	2	13	N	T_C	2.790953e-05
ARHGAP21	57584	broad.mit.edu	37	10	24893252	24893252	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr10:24893252T>C	uc001isb.2	-	11	3197	c.2710A>G	c.(2710-2712)Aag>Gag	p.K904E	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.K904E|ARHGAP21_uc010qdc.1_Missense_Mutation_p.K739E	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	903					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGATTCCCTTCAGACTAGAT	0.279													C	24893252	T	C	24893252	3	2	258	1	0	0	0	0	1	0	0	0	871	1792	62	4	3226	4	ARHGAP21	10	24893252	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	12	24893252	110641495	42	18093			1	40		2	2	13	N	T_C	2.790953e-05
OR52N2	390077	broad.mit.edu	37	11	5842404	5842404	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:5842404C>G	uc010qzp.2	+	0	839	c.839C>G	c.(838-840)gCc>gGc	p.A280G	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A280G(2)|p.A280A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATCGTGGCCAACCTTTAT	0.398													G	5842404	C	G	5842404	3	3	258	1	0	0	0	0	1	0	0	0	11128	739	26	5	841	5	OR52N2	11	5842404	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		5842404	129164112	43	18094											
TPH1	7166	broad.mit.edu	37	11	18051095	18051095	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:18051095C>T	uc001mnp.2	-	3	460	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	145					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAAATACTTTCGACGTTTACG	0.264													T	18051095	C	T	18051095	3	4	258	1	0	0	0	0	1	0	0	0	16398	884	31	2	928	2	TPH1	11	18051095	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	12208691	18051095	116955421	44	18095											
C11orf9	745	broad.mit.edu	37	11	61541579	61541579	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:61541579C>G	uc001nsc.1	+	7	1352	c.1256C>G	c.(1255-1257)aCg>aGg	p.T419R	C11orf9_uc001nse.1_Missense_Mutation_p.T410R	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	419					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						TACGTCAAGACGCCCGAGGGC	0.587													G	61541579	C	G	61541579	3	3	258	1	0	0	0	0	1	0	0	0	1671	536	19	5	1309	5	C11orf9	11	61541579	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	43490484	61541579	73464937	45	18096											
GPR137	56834	broad.mit.edu	37	11	64056613	64056613	+	Splice_Site	SNP	A	A	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:64056613A>C	uc010rni.2	+	9	1234	c.1206_splice	c.e9-2	p.R402_splice	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_Missense_Mutation_p.Q329P|GPR137_uc001nzi.3_Missense_Mutation_p.Q379P|GPR137_uc021qkt.1_Splice_Site_p.R344_splice|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	344						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTCTTCTCCCAGGTGCCAGGA	0.657													C	64056613	A	C	64056613	5	2	258	1	0	0	0	0	0	0	1	0	6645	202	7	5	1344	5	GPR137	11	64056613	Splice_Site	SNP	A	TCGA-76-4926-01B-01D-1486-08	2515034	64056613	70949903	46	18097											
SCN4B	6330	broad.mit.edu	37	11	118014756	118014756	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:118014756C>T	uc001pse.3	-	2	497	c.255G>A	c.(253-255)aaG>aaA	p.K85K	SCN4B_uc010rxu.2_5'UTR|SCN4B_uc010rxv.2_Intron	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	85	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		ACTTCTCATTCTTCACAGTCC	0.507													T	118014756	C	T	118014756	2	4	258	1	0	0	0	0	0	0	0	1	13921	912	32	3		3	SCN4B	11	118014756	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	53958143	118014756	16991760	47	18098											
TMEM25	84866	broad.mit.edu	37	11	118404798	118404798	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:118404798C>T	uc001ptk.4	+	6	1065	c.891C>T	c.(889-891)tcC>tcT	p.S297S	TMEM25_uc010ryf.2_Silent_p.S200S|TMEM25_uc010rye.2_Silent_p.S297S|TMEM25_uc009zad.3_Silent_p.S253S|TMEM25_uc001pth.3_Silent_p.S253S|TMEM25_uc001pti.3_Silent_p.S149S|TMEM25_uc001ptl.2_Silent_p.S297S|TMEM25_uc001ptm.2_Silent_p.S253S	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN	Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.	297						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGAACATGTCCCTCCCGTCCA	0.532													T	118404798	C	T	118404798	2	4	258	1	0	0	0	0	0	0	0	1	16147	610	22	3		3	TMEM25	11	118404798	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	390042	118404798	16601718	48	18099											
ADAMTS8	11095	broad.mit.edu	37	11	130284455	130284455	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:130284455G>C	uc001qgg.4	-	4	1895	c.1537C>G	c.(1537-1539)Cta>Gta	p.L513V	ADAMTS8_uc001qgf.3_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	513	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		TCCTCAGGTAGACAGCTGCCT	0.637													C	130284455	G	C	130284455	3	2	258	1	0	0	0	0	1	0	0	0	272	933	33	5	1152	5	ADAMTS8	11	130284455	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	11879657	130284455	4722061	49	18100											
ARNTL2	56938	broad.mit.edu	37	12	27540171	27540171	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:27540171G>A	uc001rht.2	+	6	794	c.575G>A	c.(574-576)gGc>gAc	p.G192D	ARNTL2_uc001rhu.2_Missense_Mutation_p.G178D|ARNTL2_uc001rhv.2_Missense_Mutation_p.G144D|ARNTL2_uc001rhw.3_Missense_Mutation_p.G155D|ARNTL2_uc010sjp.2_Missense_Mutation_p.G155D|ARNTL2_uc009zji.2_Missense_Mutation_p.G158D	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	192	PAS 1.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E191*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACTGCAGAAGGCTTCTTATTT	0.333													A	27540171	G	A	27540171	3	1	258	1	0	0	0	0	1	0	0	0	968	1203	42	3	601	3	ARNTL2	12	27540171	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		27540171	106311724	50	18101											
ESPL1	9700	broad.mit.edu	37	12	53663689	53663689	+	Silent	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:53663689C>T	uc001sck.2	+	2	1054	c.963C>T	c.(961-963)gtC>gtT	p.V321V	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	321					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATCAGCTGTCCTGAGCAAGA	0.577													T	53663689	C	T	53663689	2	4	258	1	0	0	0	0	0	0	0	1	5253	842	30	3		3	ESPL1	12	53663689	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	26123518	53663689	80188206	51	18102											
TXNRD1	7296	broad.mit.edu	37	12	104705084	104705084	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:104705084G>A	uc021rcx.1	+	4	453	c.431G>A	c.(430-432)aGa>aAa	p.R144K	TXNRD1_uc021rcy.1_Missense_Mutation_p.R46K|TXNRD1_uc021rcz.1_5'UTR|TXNRD1_uc021rda.1_5'UTR|TXNRD1_uc021rdb.1_5'UTR|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Missense_Mutation_p.R44K|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.R60K|TXNRD1_uc001tkv.2_Non-coding_Transcript	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	144	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						CAGGAGGGCAGACTTCAAAAG	0.373													A	104705084	G	A	104705084	3	1	258	1	0	0	0	0	1	0	0	0	16804	942	33	3	463	3	TXNRD1	12	104705084	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	51041395	104705084	29146811	52	18103											
AACS	65985	broad.mit.edu	37	12	125609456	125609457	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:125609456_125609457delCA	uc001uhc.3	+	11	1401_1402	c.1195_1196delCA	c.(1195-1197)cacfs	p.H399fs	AACS_uc001uhd.3_Frame_Shift_Del_p.H399fs|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	399					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGTGGAAACCCACAGTCTCCAG	0.505													-	125609457	CA	-	125609456	7	5	258	1	0	1	0	1	0	0	0	0	9	594	21	0	1241	0	AACS	12	125609456	Frame_Shift_Del	DEL	CA	TCGA-76-4926-01B-01D-1486-08	20904372	125609456	8242439	53	18104											
LRRC57	255252	broad.mit.edu	37	15	42836285	42836285	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:42836285G>A	uc001zqd.2	-	4	1084	c.716C>T	c.(715-717)gCg>gTg	p.A239V	LRRC57_uc001zqc.3_Missense_Mutation_p.A239V	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	Homo sapiens leucine rich repeat containing 57 (LRRC57), mRNA.	239										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		AGAACTTCACGCAAACTTCTT	0.408													A	42836285	G	A	42836285	3	1	258	1	0	0	0	0	1	0	0	0	9013	1087	38	1	7	1	LRRC57	15	42836285	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		42836285	59695107	54	18105											
HMG20A	10363	broad.mit.edu	37	15	77771653	77771653	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:77771653G>A	uc002bcr.3	+	9	1241	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	HMG20A_uc002bcs.3_Missense_Mutation_p.R347H|HMG20A_uc021sra.1_5'Flank	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	347					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.D346N(1)|p.D346Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGACTCGATCGTTAGGGAATG	0.368													A	77771653	G	A	77771653	3	1	258	1	0	0	0	0	1	0	0	0	7221	1145	40	1	1070	1	HMG20A	15	77771653	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	34935368	77771653	24759739	55	18106											
TMC3	342125	broad.mit.edu	37	15	81627093	81627093	+	Silent	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:81627093G>A	uc021ssk.1	-	20	2427	c.2427C>T	c.(2425-2427)gtC>gtT	p.V809V	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	809						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGATTTGGGGACCCCAGGGA	0.572													A	81627093	G	A	81627093	2	1	258	1	0	0	0	0	0	0	0	1	15983	1161	41	3		3	TMC3	15	81627093	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08	3855440	81627093	20904299	56	18107											
OTOA	146183	broad.mit.edu	37	16	21716537	21716537	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:21716537C>T	uc002djh.3	+	10	1029	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.A264V|OTOA_uc002dji.3_Missense_Mutation_p.A19V|OTOA_uc010vbk.2_5'UTR	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	357					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTGCTGGATGCCACTGTGGCT	0.577													T	21716537	C	T	21716537	3	4	258	1	0	0	0	0	1	0	0	0	11302	739	26	3	1116	3	OTOA	16	21716537	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		21716537	68638216	57	18108											
GDPD3	79153	broad.mit.edu	37	16	30123709	30123709	+	Missense_Mutation	SNP	C	C	T	rs76435425		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:30123709C>T	uc002dwp.3	-	4	480	c.401G>A	c.(400-402)cGt>cAt	p.R134H	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_Missense_Mutation_p.R72H|NR_027081_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	134	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GTCCTCCAGACGAACCATGCG	0.602											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	30123709	C	T	30123709	3	4	258	1	0	0	0	0	1	0	0	0	6325	536	19	1	579	1	GDPD3	16	30123709	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	8407172	30123709	60231044	58	18109											
IRF8	3394	broad.mit.edu	37	16	85952071	85952071	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:85952071G>A	uc002fjh.3	+	6	707	c.650G>A	c.(649-651)gGc>gAc	p.G217D		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	217					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AAGCTGGTGGGCCAGGCCACC	0.662													A	85952071	G	A	85952071	3	1	258	1	0	0	0	0	1	0	0	0	7836	1203	42	3	672	3	IRF8	16	85952071	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	55828362	85952071	4402682	59	18110											
SPAG5	10615	broad.mit.edu	37	17	26907060	26907064	+	Frame_Shift_Del	DEL	GGAAG	GGAAG	-			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:26907060_26907064delGGAAG	uc002hbq.3	-	15	2852_2856	c.2760_2764delCTTCC	c.(2758-2766)accttcctgfs	p.T920fs	SPAG5_uc010waq.1_Frame_Shift_Del_p.T325fs	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	920					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGCTTCCCAGGAAGGTCCTGTCAT	0.507													-	26907064	GGAAG	-	26907060	7	5	258	1	0	1	0	1	0	0	0	0	14981	991	35	0	853	0	SPAG5	17	26907060	Frame_Shift_Del	DEL	GGAAG	TCGA-76-4926-01B-01D-1486-08		26907060	54288150	60	18111											
MYO18A	399687	broad.mit.edu	37	17	27424907	27424907	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:27424907T>C	uc002hdt.1	-	25	4159	c.4001A>G	c.(4000-4002)gAt>gGt	p.D1334G	MYO18A_uc010wbc.1_Missense_Mutation_p.D876G|MYO18A_uc002hds.2_Missense_Mutation_p.D876G|MYO18A_uc010csa.1_Missense_Mutation_p.D1334G|MYO18A_uc002hdu.1_Missense_Mutation_p.D1334G|MYO18A_uc010wbd.1_Missense_Mutation_p.D1003G	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1334					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTTCAGTGCATCGTACTGGGT	0.542													C	27424907	T	C	27424907	3	2	258	1	0	0	0	0	1	0	0	0	10065	1435	50	4	2231	4	MYO18A	17	27424907	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	517847	27424907	53770303	61	18112											
ACE	1636	broad.mit.edu	37	17	61571327	61571327	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:61571327G>A	uc002jau.2	+	20	3215	c.3181G>A	c.(3181-3183)Gcc>Acc	p.A1061T	ACE_uc010wpj.2_Missense_Mutation_p.A487T|ACE_uc010ddv.2_Missense_Mutation_p.A288T|ACE_uc002jav.2_Missense_Mutation_p.A487T|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.A307T	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1061	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGACAAGATCGCCTTTATCCC	0.552													A	61571327	G	A	61571327	3	1	258	1	0	0	0	0	1	0	0	0	136	1087	38	1	3466	1	ACE	17	61571327	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	34146420	61571327	19623883	62	18113											
PHLPP1	23239	broad.mit.edu	37	18	60645528	60645528	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr18:60645528C>T	uc021ule.1	+	16	4263	c.4018C>T	c.(4018-4020)Cgc>Tgc	p.R1340C		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1340	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TGAGTCCACGCGCATCCTGGG	0.582													T	60645528	C	T	60645528	3	4	258	1	0	0	0	0	1	0	0	0	11854	768	27	1	4084	1	PHLPP1	18	60645528	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		60645528	17431720	63	18114											
ATP8B3	148229	broad.mit.edu	37	19	1795945	1795945	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:1795945C>T	uc002ltw.3	-	17	2218	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	ATP8B3_uc002ltv.3_Missense_Mutation_p.A615T|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	662					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		ACCGTGTCGGCGCCCTTGGTG	0.632											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	1795945	C	T	1795945	3	4	258	1	0	0	0	0	1	0	0	0	1196	768	27	1	1996	1	ATP8B3	19	1795945	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		1795945	57333038	64	18115											
MYO9B	4650	broad.mit.edu	37	19	17320489	17320489	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:17320489C>T	uc010eak.3	+	35	5871	c.5719C>T	c.(5719-5721)Cgc>Tgc	p.R1907C	MYO9B_uc002nfi.3_Missense_Mutation_p.R1907C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1907C|MYO9B_uc002nfm.1_Missense_Mutation_p.R67C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1907	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TATCGCCTTCCGCAGGCTTTC	0.587													T	17320489	C	T	17320489	3	4	258	1	0	0	0	0	1	0	0	0	10085	652	23	2	5857	2	MYO9B	19	17320489	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	15524544	17320489	41808494	65	18116											
CRTC1	23373	broad.mit.edu	37	19	18870986	18870986	+	Silent	SNP	C	C	T	rs140237275	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:18870986C>T	uc010ebv.3	+	8	970	c.882C>T	c.(880-882)acC>acT	p.T294T	CRTC1_uc002nkb.4_Silent_p.T278T|CRTC1_uc010ebw.3_Silent_p.T143T	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	278					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCAGCAGCACCGGCAACCTCG	0.697													T	18870986	C	T	18870986	2	4	258	1	0	0	0	0	0	0	0	1	3899	639	23	2		2	CRTC1	19	18870986	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	1550497	18870986	40257997	66	18117											
CD177	57126	broad.mit.edu	37	19	43859911	43859911	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:43859911G>C	uc002owi.3	+	3	520	c.478G>C	c.(478-480)Gat>Cat	p.D160H	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	160	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACACTGTTATGATGGCCTCCT	0.582													C	43859911	G	C	43859911	3	2	258	1	0	0	0	0	1	0	0	0	2971	1290	45	5	492	5	CD177	19	43859911	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	24988925	43859911	15269072	67	18118											
JAG1	182	broad.mit.edu	37	20	10630946	10630946	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr20:10630946C>T	uc002wnw.2	-	8	1699	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	JAG1_uc010gcd.1_5'UTR	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	395	EGF-like 5; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACTTAAATCCGTTAACCAGG	0.463									Alagille Syndrome				T	10630946	C	T	10630946	3	4	258	1	0	0	0	0	1	0	0	0	7934	661	23	2	2545	2	JAG1	20	10630946	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		10630946	52394574	68	18119											
CEP250	11190	broad.mit.edu	37	20	34067060	34067060	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr20:34067060G>A	uc021wco.1	+	17	2746	c.2099G>A	c.(2098-2100)cGt>cAt	p.R700H	CEP250_uc010zve.2_Missense_Mutation_p.R68H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	700	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCTCAGTCACGTCACCAGCAG	0.592													A	34067060	G	A	34067060	3	1	258	1	0	0	0	0	1	0	0	0	3252	1145	40	1	2157	1	CEP250	20	34067060	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	23436114	34067060	28958460	69	18120											
PANX2	56666	broad.mit.edu	37	22	50615939	50615939	+	Silent	SNP	C	C	T	rs35622534		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr22:50615939C>T	uc003bjn.4	+	1	798	c.798C>T	c.(796-798)gaC>gaT	p.D266D	PANX2_uc003bjp.4_Silent_p.D132D|PANX2_uc003bjo.4_Silent_p.D266D	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	266					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGTCCCCGGACGGGGCGGCAG	0.692													T	50615939	C	T	50615939	2	4	258	1	0	0	0	0	0	0	0	1	11421	535	19	1		1	PANX2	22	50615939	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08		50615939	688627	70	18121											
MXRA5	25878	broad.mit.edu	37	X	3235282	3235282	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chrX:3235282C>T	uc004crg.4	-	5	6597	c.6440G>A	c.(6439-6441)cGc>cAc	p.R2147H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2147	Ig-like C2-type 6.					extracellular region				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)				GCCCGTGATGCGCGCGTTGGC	0.706													T	3235282	C	T	3235282	3	4	258	1	0	0	0	0	1	0	0	0	10003	768	27	1	2054	1	MXRA5	23	3235282	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		3235282	152035278	71	18122											
ATP11C	286410	broad.mit.edu	37	X	138908934	138908934	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chrX:138908934T>C	uc004faz.3	-	1	184	c.85A>G	c.(85-87)Aat>Gat	p.N29D	ATP11C_uc004fba.3_Missense_Mutation_p.N29D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	29					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACTGGATGATTGCCAACAAAC	0.373													C	138908934	T	C	138908934	3	2	258	1	0	0	0	0	1	0	0	0	1121	1812	63	4	3492	4	ATP11C	23	138908934	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	135673652	138908934	16361626	72	18123											
CAMTA1	23261	broad.mit.edu	37	1	7797314	7797314	+	Splice_Site	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:7797314G>A	uc001aoi.3	+	15	3550	c.3343_splice	c.e15-1	p.M1115_splice	CAMTA1_uc010nzv.1_Splice_Site_p.M202_splice|CAMTA1_uc001aok.4_Splice_Site_p.M158_splice|CAMTA1_uc001aoj.3_Splice_Site_p.M71_splice	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGTCTTCTAGATGTGGGCGT	0.557			T	WWTR1	epitheliod hemangioendothelioma								A	7797314	G	A	7797314	5	1	259	1	0	0	0	0	0	0	1	0	2613	956	33	3	3400	3	CAMTA1	1	7797314	Splice_Site	SNP	G	TCGA-76-4927-01A-01D-1486-08		7797314	241453307	1	18124											
SRGAP2	23380	broad.mit.edu	37	1	121116047	121116047	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:121116047G>C	uc001eis.2	+	2	281	c.213_splice	c.e2+1	p.K71_splice		NM_001042758	NP_001036223	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 2, mRNA.	234	FCH.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGAAGGAGAAGGTATGTAGGC	0.522													C	121116047	G	C	121116047	3	2	259	1	0	0	0	0	1	0	0	0	15145	1015	35	5		5	SRGAP2	1	121116047	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	113318733	121116047	128134574	2	18125											
GJA8	2703	broad.mit.edu	37	1	147380445	147380445	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:147380445C>T	uc021ovm.1	+	0	363	c.363C>T	c.(361-363)aaC>aaT	p.N121N	GJA8_uc001epu.2_Silent_p.N121N	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	121					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			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)					CGGGGACTAACGGCGGCCCGG	0.657													T	147380445	C	T	147380445	2	4	259	1	0	0	0	0	0	0	0	1	6405	535	19	1		1	GJA8	1	147380445	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	26264398	147380445	101870176	3	18126											
UBAP2L	9898	broad.mit.edu	37	1	154207187	154207187	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:154207187C>T	uc001fep.4	+	4	567	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	UBAP2L_uc009wot.3_Missense_Mutation_p.R134C|UBAP2L_uc010pek.2_Missense_Mutation_p.R133C|UBAP2L_uc010pel.2_Missense_Mutation_p.R133C|UBAP2L_uc021pad.1_Missense_Mutation_p.R133C|UBAP2L_uc010pem.1_Missense_Mutation_p.R133C|UBAP2L_uc010pen.2_Missense_Mutation_p.R37C	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	134					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGTCGGCGACGTGGTGGGCC	0.552													T	154207187	C	T	154207187	3	4	259	1	0	0	0	0	1	0	0	0	16835	536	19	1	414	1	UBAP2L	1	154207187	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	6826742	154207187	95043434	4	18127											
CACNA1S	779	broad.mit.edu	37	1	201058474	201058474	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:201058474C>T	uc001gvv.3	-	5	1039	c.812G>A	c.(811-813)gGc>gAc	p.G271D		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	271					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTGGGTGATGCCATGGTTGGG	0.627													T	201058474	C	T	201058474	3	4	259	1	0	0	0	0	1	0	0	0	2547	739	26	3	4965	3	CACNA1S	1	201058474	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	46851287	201058474	48192147	5	18128											
SPATA17	128153	broad.mit.edu	37	1	217824518	217824518	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:217824518C>A	uc001hlh.1	+	2	264	c.238C>A	c.(238-240)Cag>Aag	p.Q80K	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	80	IQ 2.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACTAACTGTGCAGGTAAATAT	0.289													A	217824518	C	A	217824518	3	1	259	1	0	0	0	0	1	0	0	0	15001	711	25	5	248	5	SPATA17	1	217824518	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	16766044	217824518	31426103	6	18129											
DISC1	27185	broad.mit.edu	37	1	232144583	232144583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:232144583C>T	uc010pxh.2	+	11	2244	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*	DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pxe.2_Nonsense_Mutation_p.R699*|DISC1_uc010pxf.2_Silent_p.V678V|DISC1_uc010pxg.2_3'UTR|DISC1_uc010pxd.2_Nonsense_Mutation_p.R344*|DISC1_uc009xfr.3_Nonsense_Mutation_p.R654*|DISC1_uc010pxn.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Nonsense_Mutation_p.R577*|DISC1_uc001huz.3_Nonsense_Mutation_p.R699*|DISC1_uc001hva.3_Nonsense_Mutation_p.R699*	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	699	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGAAGCTTGTCGATTGCTTAT	0.493													T	232144583	C	T	232144583	4	4	259	1	0	0	0	0	0	1	0	0	4538	876	31	2	2873	2	DISC1	1	232144583	Nonsense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	14320065	232144583	17106038	7	18130											
LPIN1	23175	broad.mit.edu	37	2	11911528	11911528	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:11911528C>T	uc010yjm.2	+	4	519	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	LPIN1_uc010yjn.2_Missense_Mutation_p.P107S|LPIN1_uc002rbt.3_Missense_Mutation_p.P107S|LPIN1_uc002rbs.3_Missense_Mutation_p.P107S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	107					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.P107S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGCCACCTCCCCCATCCTGTC	0.517													T	11911528	C	T	11911528	3	4	259	1	0	0	0	0	1	0	0	0	8918	623	22	3	329	3	LPIN1	2	11911528	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		11911528	231287845	8	18131											
MFSD2B	388931	broad.mit.edu	37	2	24246495	24246495	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:24246495C>T	uc002reo.2	+	11	1226	c.1212C>T	c.(1210-1212)caC>caT	p.H404H		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	404					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AGCTGCAGCACCGTCACGGGC	0.622													T	24246495	C	T	24246495	2	4	259	1	0	0	0	0	0	0	0	1	9531	506	18	3		3	MFSD2B	2	24246495	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	12334967	24246495	218952878	9	18132											
SCN1A	6323	broad.mit.edu	37	2	166897863	166897863	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:166897863C>T	uc002udo.4	-	14	2520	c.2293G>A	c.(2293-2295)Gtg>Atg	p.V765M	SCN1A_uc010fpk.3_Missense_Mutation_p.V737M|SCN1A_uc021vsb.1_Missense_Mutation_p.V754M	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	765						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I765I(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGGTCCATCACAACCAGGTTG	0.403													T	166897863	C	T	166897863	3	4	259	1	0	0	0	0	1	0	0	0	13914	478	17	3	3792	3	SCN1A	2	166897863	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	142651368	166897863	76301510	10	18133											
PIKFYVE	200576	broad.mit.edu	37	2	209150648	209150648	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:209150648C>T	uc002vcz.3	+	5	970	c.812C>T	c.(811-813)gCc>gTc	p.A271V	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.A271V|PIKFYVE_uc002vcw.3_Missense_Mutation_p.A271V|PIKFYVE_uc002vcv.3_Missense_Mutation_p.A174V|PIKFYVE_uc002vcx.3_Missense_Mutation_p.A185V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	271					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATGATTTGGCCTGGCAAAGG	0.403													T	209150648	C	T	209150648	3	4	259	1	0	0	0	0	1	0	0	0	11924	739	26	3	830	3	PIKFYVE	2	209150648	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	42252785	209150648	34048725	11	18134											
TNS1	7145	broad.mit.edu	37	2	218713141	218713141	+	Missense_Mutation	SNP	G	G	A	rs147452506		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:218713141G>A	uc002vgt.2	-	16	2122	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M	TNS1_uc002vgr.2_Missense_Mutation_p.T575M|TNS1_uc002vgs.2_Missense_Mutation_p.T575M|TNS1_uc010zjv.1_Missense_Mutation_p.T575M|TNS1_uc010fvj.1_Missense_Mutation_p.T643M|TNS1_uc010fvk.1_Missense_Mutation_p.T700M|TNS1_uc010fvi.1_Missense_Mutation_p.T262M	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	575						cytoplasm|cytoskeleton|focal adhesion	actin binding			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)		CATGGGGGCCGTGTGGCCAGC	0.667													A	218713141	G	A	218713141	3	1	259	1	0	0	0	0	1	0	0	0	16340	1145	40	1	3551	1	TNS1	2	218713141	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	9562493	218713141	24486232	12	18135											
COL6A3	1293	broad.mit.edu	37	2	238303590	238303590	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:238303590G>C	uc002vwl.2	-	2	634	c.349C>G	c.(349-351)Cag>Gag	p.Q117E	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.Q117E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	117	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		TTTCCAGTCTGATTGGTTCCC	0.453													C	238303590	G	C	238303590	3	2	259	1	0	0	0	0	1	0	0	0	3701	1299	45	5	9399	5	COL6A3	2	238303590	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	19590449	238303590	4895783	13	18136											
HDAC4	9759	broad.mit.edu	37	2	240061423	240061423	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:240061423G>A	uc002vyk.4	-	8	1727	c.935C>T	c.(934-936)gCg>gTg	p.A312V	HDAC4_uc010fyz.1_Missense_Mutation_p.A307V|HDAC4_uc010zoa.1_Missense_Mutation_p.A307V|HDAC4_uc010fza.2_Missense_Mutation_p.A312V|HDAC4_uc010fyy.3_Missense_Mutation_p.A264V|HDAC4_uc010znz.1_Missense_Mutation_p.A195V|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	312	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.A312A(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCGTTCTCCGCGCTGACGCT	0.662													A	240061423	G	A	240061423	3	1	259	1	0	0	0	0	1	0	0	0	7009	1087	38	1	2395	1	HDAC4	2	240061423	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	1757833	240061423	3137950	14	18137											
FGD5	152273	broad.mit.edu	37	3	14862435	14862435	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:14862435C>T	uc003bzc.3	+	0	1967	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	FGD5_uc011avk.2_Silent_p.F619F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	619					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACCTCCTTTCGACCTGGCCT	0.557													T	14862435	C	T	14862435	2	4	259	1	0	0	0	0	0	0	0	1	5836	883	31	2		2	FGD5	3	14862435	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08		14862435	183159995	15	18138											
SLC6A20	54716	broad.mit.edu	37	3	45812818	45812818	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:45812818C>T	uc011bai.2	-	5	950	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.A239T	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	276					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A239T(1)|p.A276T(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ACGATGATGGCGTGCTTCTGG	0.517													T	45812818	C	T	45812818	3	4	259	1	0	0	0	0	1	0	0	0	14684	768	27	1	976	1	SLC6A20	3	45812818	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	30950383	45812818	152209612	16	18139											
PHLDB2	90102	broad.mit.edu	37	3	111603533	111603533	+	Silent	SNP	A	A	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:111603533A>C	uc010hqa.3	+	1	1020	c.609A>C	c.(607-609)tcA>tcC	p.S203S	PHLDB2_uc003dyc.3_Silent_p.S230S|PHLDB2_uc003dyd.3_Silent_p.S203S|PHLDB2_uc003dyg.3_Silent_p.S203S|PHLDB2_uc003dyh.3_Silent_p.S203S|PHLDB2_uc003dye.4_Silent_p.S203S|PHLDB2_uc003dyf.4_Silent_p.S203S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	203						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCATGCCTTCAAGCCCAAAGC	0.532													C	111603533	A	C	111603533	2	2	259	1	0	0	0	0	0	0	0	1	11852	117	5	5		5	PHLDB2	3	111603533	Silent	SNP	A	TCGA-76-4927-01A-01D-1486-08	65790715	111603533	86418897	17	18140											
PDGFRA	81608	broad.mit.edu	37	4	54294195	54294195	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:54294195T>C	uc003gzy.3	+	13	1204	c.1018_splice	c.e13-1	p.V340_splice	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzx.4_Splice_Site_p.V325_splice|PDGFRA_uc011bzt.1_Splice_Site_p.V304_splice|PDGFRA_uc011bzu.2_Splice_Site_p.V325_splice|PDGFRA_uc003gzz.3_Splice_Site_p.V266_splice|PDGFRA_uc003hab.3_Splice_Site_p.V305_splice|PDGFRA_uc010ign.3_Splice_Site|FIP1L1_uc003hae.3_Splice_Site	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 4.				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			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)	TAATTTTAGGTCCTTTCTGAA	0.353			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	54294195	T	C	54294195	3	2	259	1	0	0	0	0	1	0	0	0	11661	1681	58	4		4	PDGFRA	4	54294195	Missense_Mutation	SNP	T	TCGA-76-4927-01A-01D-1486-08		54294195	136860081	18	18141											
TLR2	7097	broad.mit.edu	37	4	154625003	154625003	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:154625003G>A	uc003inq.3	+	2	1163	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	TLR2_uc003inr.3_Missense_Mutation_p.R315Q|TLR2_uc003ins.3_Missense_Mutation_p.R315Q|TLR2_uc021xtl.1_Missense_Mutation_p.R315Q	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	315					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|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 toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.I314V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTAACAATCCGGAGGCTGCAT	0.338													A	154625003	G	A	154625003	3	1	259	1	0	0	0	0	1	0	0	0	15948	1116	39	2	946	2	TLR2	4	154625003	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	100330808	154625003	36529273	19	18142											
PLEKHG4B	153478	broad.mit.edu	37	5	163559	163559	+	Silent	SNP	G	G	A	rs114260538	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:163559G>A	uc003jak.2	+	10	2354	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	768					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P768P(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)		AGAAGCTCCCGCTGTGGCAGC	0.652													A	163559	G	A	163559	2	1	259	1	0	0	0	0	0	0	0	1	12072	1074	38	1		1	PLEKHG4B	5	163559	Silent	SNP	G	TCGA-76-4927-01A-01D-1486-08		163559	180751701	20	18143											
PIK3R1	5295	broad.mit.edu	37	5	67575431	67575432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:67575431_67575432insA	uc003jva.3	+	4	1084_1085	c.504_505insA	c.(502-507)gatacafs	p.D168fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	168	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTTTCCTAGATACACCCTCCGT	0.381			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67575432	-	A	67575431	7	5	259	1	0	1	1	0	0	0	0	0	11918	1420	49	0	518	0	PIK3R1	5	67575431	Frame_Shift_Ins	INS	-	TCGA-76-4927-01A-01D-1486-08	67411872	67575431	113339829	21	18144											
PCDHAC2	56143	broad.mit.edu	37	5	140202723	140202723	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:140202723G>A	uc003lhl.2	+	0	1363	c.1363G>A	c.(1363-1365)Gcg>Acg	p.A455T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.A455T|PCDHAC2_uc003lhj.1_Missense_Mutation_p.A455T	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	470	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T454S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCCA	0.677													A	140202723	G	A	140202723	3	1	259	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140202723	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	72627292	140202723	40712537	22	18145											
GPR111	222611	broad.mit.edu	37	6	47647995	47647995	+	Missense_Mutation	SNP	C	C	A	rs141145040	by1000genomes	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr6:47647995C>A	uc010jzj.1	+	4	661	c.660C>A	c.(658-660)aaC>aaA	p.N220K	GPR111_uc003oyy.3_Missense_Mutation_p.N152K	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	220					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCTTACACAACATATCAACAG	0.438													A	47647995	C	A	47647995	3	1	259	1	0	0	0	0	1	0	0	0	6628	477	17	5	470	5	GPR111	6	47647995	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		47647995	123467072	23	18146											
PACRG	135138	broad.mit.edu	37	6	163510341	163510341	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr6:163510341C>T	uc003qua.3	+	4	738	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	PACRG_uc003qub.3_Missense_Mutation_p.L172F|PACRG_uc003quc.3_Missense_Mutation_p.L172F	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	172										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TCTCAAGGTCCTCCAGCATCT	0.448													T	163510341	C	T	163510341	3	4	259	1	0	0	0	0	1	0	0	0	11370	681	24	3	528	3	PACRG	6	163510341	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	115862346	163510341	7604726	24	18147											
INTS1	26173	broad.mit.edu	37	7	1522258	1522258	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:1522258C>T	uc003skn.2	-	26	3728	c.3627G>A	c.(3625-3627)tcG>tcA	p.S1209S	INTS1_uc003skp.1_3'UTR	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1209					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.A1209A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCCTCCTCCGATGTGTCCA	0.642													T	1522258	C	T	1522258	2	4	259	1	0	0	0	0	0	0	0	1	7775	639	23	2		2	INTS1	7	1522258	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08		1522258	157616405	25	18148											
PKD1L1	168507	broad.mit.edu	37	7	47854942	47854942	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:47854942G>A	uc003tny.2	-	46	7113	c.7079C>T	c.(7078-7080)cCg>cTg	p.P2360L	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.P87L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2360					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGAGCCCCCGGCACACGGGC	0.567													A	47854942	G	A	47854942	3	1	259	1	0	0	0	0	1	0	0	0	11964	1116	39	2	1514	2	PKD1L1	7	47854942	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	46332684	47854942	111283721	26	18149											
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220274	C	T	55220274	3	4	259	1	0	0	0	0	1	0	0	0	4967	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	7365332	55220274	103918389	27	18150											
TAC1	6863	broad.mit.edu	37	7	97364145	97364145	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:97364145C>T	uc003uop.4	+	4	519	c.273C>T	c.(271-273)ggC>ggT	p.G91G	TAC1_uc003uoq.4_Silent_p.G91G|TAC1_uc003uor.4_Silent_p.G76G|TAC1_uc003uos.4_Silent_p.G76G	NM_003182	NP_003173	P20366	TKN1_HUMAN	Homo sapiens tachykinin, precursor 1 (TAC1), transcript variant beta, mRNA.	91					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TAGGACATGGCCAGATCTCTC	0.214													T	97364145	C	T	97364145	2	4	259	1	0	0	0	0	0	0	0	1	15495	726	26	3		3	TAC1	7	97364145	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	42143871	97364145	61774518	28	18151											
FAM71F1	84691	broad.mit.edu	37	7	128369997	128369997	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:128369997G>A	uc003vno.1	+	5	948	c.895G>A	c.(895-897)Gac>Aac	p.D299N	FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.D198N|FAM71F1_uc003vnp.1_Missense_Mutation_p.D297N	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	299								p.D299G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTGCACCTGTGACCTACGTTG	0.532													A	128369997	G	A	128369997	3	1	259	1	0	0	0	0	1	0	0	0	5612	1290	45	3	917	3	FAM71F1	7	128369997	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	31005852	128369997	30768666	29	18152											
LMBR1	64327	broad.mit.edu	37	7	156556439	156556439	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:156556439C>T	uc010lqn.3	-	5	689	c.474G>A	c.(472-474)gcG>gcA	p.A158A	LMBR1_uc003wmv.4_Silent_p.A6A|LMBR1_uc003wmw.4_Silent_p.A158A|LMBR1_uc003wmx.4_Silent_p.A6A|LMBR1_uc011kvx.2_Silent_p.A137A	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	158						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GAATGAGTAACGCAAGAAGAA	0.378													T	156556439	C	T	156556439	2	4	259	1	0	0	0	0	0	0	0	1	8840	523	19	1		1	LMBR1	7	156556439	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	28186442	156556439	2582224	30	18153											
UBXN8	7993	broad.mit.edu	37	8	30609013	30609013	+	Missense_Mutation	SNP	A	A	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr8:30609013A>C	uc003xii.3	+	1	206	c.189A>C	c.(187-189)aaA>aaC	p.K63N	UBXN8_uc010lvi.3_Intron|UBXN8_uc011lbb.2_Non-coding_Transcript|UBXN8_uc003xij.3_Non-coding_Transcript	NM_005671	NP_005662	O00124	UBXN8_HUMAN	Homo sapiens UBX domain protein 8 (UBXN8), mRNA.	63					single fertilization					central_nervous_system(1)|lung(2)	3						ACTCATTTAAATCTCCCCAAG	0.338													C	30609013	A	C	30609013	3	2	259	1	0	0	0	0	1	0	0	0	16916	98	4	5	195	5	UBXN8	8	30609013	Missense_Mutation	SNP	A	TCGA-76-4927-01A-01D-1486-08		30609013	115755009	31	18154											
TG	7038	broad.mit.edu	37	8	134107432	134107432	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr8:134107432C>T	uc003ytw.3	+	41	7425	c.7384C>T	c.(7384-7386)Ctc>Ttc	p.L2462F	TG_uc010mdw.3_Missense_Mutation_p.L1221F|TG_uc011ljb.2_Missense_Mutation_p.L831F|TG_uc011ljc.2_Missense_Mutation_p.L595F|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2462					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.V2461V(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)		TGCCAATGTCCTCAATGATGC	0.512													T	134107432	C	T	134107432	3	4	259	1	0	0	0	0	1	0	0	0	15810	681	24	3	7550	3	TG	8	134107432	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	103498419	134107432	12256590	32	18155											
CTSL2	1515	broad.mit.edu	37	9	99800218	99800218	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:99800218G>C	uc010msi.3	-	1	315	c.108C>G	c.(106-108)caC>caG	p.H36Q	CTSL2_uc004awt.3_Missense_Mutation_p.H36Q|CTSL2_uc004awu.3_5'UTR|CTSL2_uc010msj.2_5'UTR|CTSL2_uc010msk.3_5'UTR	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	36						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				ATAATCTTCTGTGTGTTGCCT	0.483													C	99800218	G	C	99800218	3	2	259	1	0	0	0	0	1	0	0	0	4039	1368	48	5	924	5	CTSL2	9	99800218	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08		99800218	41413213	33	18156											
FAM102A	399665	broad.mit.edu	37	9	130710496	130710496	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:130710496G>A	uc004bsx.2	-	5	866	c.470C>T	c.(469-471)tCg>tTg	p.S157L	FAM102A_uc004bsw.1_Missense_Mutation_p.S15L|FAM102A_uc004bsy.1_5'UTR	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	157	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CTTGGCAGTCGATGGTGGCCT	0.602													A	130710496	G	A	130710496	3	1	259	1	0	0	0	0	1	0	0	0	5382	1059	37	2	708	2	FAM102A	9	130710496	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	30910278	130710496	10502935	34	18157											
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Frame_Shift_Del	DEL	G	G	-	rs121913292		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr10:89692905delG	uc001kfb.3	+	4	1421	c.389delG	c.(388-390)cgafs	p.R130fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130Q(130)|p.R130G(110)|p.R130*(72)|p.0?(37)|p.R130fs*4(28)|p.R130L(25)|p.R130P(14)|p.K128_R130del(8)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.G129fs*50(1)|p.G129fs*51(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89692905	G	-	89692905	7	5	259	1	0	1	0	1	0	0	0	0	12738	1058	37	0	407	0	PTEN	10	89692905	Frame_Shift_Del	DEL	G	TCGA-76-4927-01A-01D-1486-08		89692905	45841842	35	18158											
MUC5B	727897	broad.mit.edu	37	11	1263896	1263896	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:1263896C>T	uc001lta.3	+	30	5845	c.5786C>T	c.(5785-5787)aCc>aTc	p.T1929I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1929	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGACCTCCACCCTGAGAACA	0.637													T	1263896	C	T	1263896	3	4	259	1	0	0	0	0	1	0	0	0	9979	507	18	3	5917	3	MUC5B	11	1263896	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		1263896	133742620	36	18159											
OR52N1	79473	broad.mit.edu	37	11	5809803	5809803	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:5809803T>C	uc010qzo.2	-	0	244	c.244A>G	c.(244-246)Aac>Gac	p.N82D	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		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)		AAGAGAGTGTTGGGAAGGGTG	0.473													C	5809803	T	C	5809803	3	2	259	1	0	0	0	0	1	0	0	0	11127	1812	63	4	721	4	OR52N1	11	5809803	Missense_Mutation	SNP	T	TCGA-76-4927-01A-01D-1486-08	4545907	5809803	129196713	37	18160											
NPAS4	266743	broad.mit.edu	37	11	66189954	66189954	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:66189954C>T	uc001ohx.1	+	2	536	c.360C>T	c.(358-360)taC>taT	p.Y120Y	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	120	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.I119F(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACAGCATCTACGACATCATTG	0.557													T	66189954	C	T	66189954	2	4	259	1	0	0	0	0	0	0	0	1	10565	547	19	1		1	NPAS4	11	66189954	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	60380151	66189954	68816562	38	18161											
PRCP	5547	broad.mit.edu	37	11	82549612	82549612	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:82549612C>T	uc001ozs.3	-	7	1204	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	PRCP_uc001ozr.3_Missense_Mutation_p.C385Y	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	364					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TACTTCTGTGCAGGCCTAAGA	0.378													T	82549612	C	T	82549612	3	4	259	1	0	0	0	0	1	0	0	0	12449	710	25	3	407	3	PRCP	11	82549612	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	16359658	82549612	52456904	39	18162											
KITLG	4254	broad.mit.edu	37	12	88939597	88939597	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr12:88939597G>C	uc001tav.3	-	1	256	c.61C>G	c.(61-63)Cct>Gct	p.P21A	KITLG_uc001taw.3_Missense_Mutation_p.P21A	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	21					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTGACGAGAGGATTAAATAGG	0.363									Testicular Cancer, Familial Clustering of				C	88939597	G	C	88939597	3	2	259	1	0	0	0	0	1	0	0	0	8330	1174	41	5	792	5	KITLG	12	88939597	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08		88939597	44912298	40	18163											
TXNRD1	7296	broad.mit.edu	37	12	104721416	104721416	+	Silent	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr12:104721416G>A	uc021rcx.1	+	12	1531	c.1509G>A	c.(1507-1509)ctG>ctA	p.L503L	TXNRD1_uc021rcy.1_Silent_p.L405L|TXNRD1_uc021rcz.1_Silent_p.L353L|TXNRD1_uc021rda.1_Silent_p.L353L|TXNRD1_uc021rdb.1_Silent_p.L353L|TXNRD1_uc010swp.2_Silent_p.L315L|TXNRD1_uc010swq.2_Silent_p.L403L|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Silent_p.L419L	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	503					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GAAGATTGCTGGCTCAGAGGC	0.473													A	104721416	G	A	104721416	2	1	259	1	0	0	0	0	0	0	0	1	16804	1335	47	3		3	TXNRD1	12	104721416	Silent	SNP	G	TCGA-76-4927-01A-01D-1486-08	15781819	104721416	29130479	41	18164											
SCFD1	23256	broad.mit.edu	37	14	31142541	31142541	+	Silent	SNP	T	T	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:31142541T>C	uc001wqm.1	+	11	1098	c.1074T>C	c.(1072-1074)ctT>ctC	p.L358L	SCFD1_uc001wqn.1_Silent_p.L291L|SCFD1_uc010tpg.1_Silent_p.L299L|SCFD1_uc010tph.1_Silent_p.L173L|SCFD1_uc010amf.1_Silent_p.L173L|SCFD1_uc010tpi.1_Silent_p.L266L|SCFD1_uc010amd.1_Silent_p.L190L	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	358					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TCAAACGACTTAAAAGCATTA	0.338													C	31142541	T	C	31142541	2	2	259	1	0	0	0	0	0	0	0	1	13889	1741	61	4		4	SCFD1	14	31142541	Silent	SNP	T	TCGA-76-4927-01A-01D-1486-08		31142541	76206999	42	18165											
ESR2	2100	broad.mit.edu	37	14	64749369	64749369	+	Missense_Mutation	SNP	G	G	A	rs141516067		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:64749369G>A	uc001xha.1	-	1	803	c.335C>T	c.(334-336)tCg>tTg	p.S112L	ESR2_uc001xgy.2_Missense_Mutation_p.S112L|ESR2_uc001xgu.3_Missense_Mutation_p.S112L|ESR2_uc001xgv.3_Missense_Mutation_p.S112L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.2_Missense_Mutation_p.S112L	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	112	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGTTCTAGCGATCTTGCTTC	0.448													A	64749369	G	A	64749369	3	1	259	1	0	0	0	0	1	0	0	0	5257	1059	37	2	1375	2	ESR2	14	64749369	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	33606828	64749369	42600171	43	18166											
PAPLN	89932	broad.mit.edu	37	14	73729314	73729314	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:73729314C>T	uc010ttx.2	+	17	2665	c.2502C>T	c.(2500-2502)ggC>ggT	p.G834G	PAPLN_uc001xnw.4_Silent_p.G807G|PAPLN_uc010arl.3_Intron|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.G818G|PAPLN_uc010arm.3_Missense_Mutation_p.A26V|PAPLN_uc010arn.3_Silent_p.G34G	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	834						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTCCTGCAGGCGAGCAGGAAC	0.682													T	73729314	C	T	73729314	2	4	259	1	0	0	0	0	0	0	0	1	11428	755	27	1		1	PAPLN	14	73729314	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	8979945	73729314	33620226	44	18167											
GPR68	8111	broad.mit.edu	37	14	91700886	91700886	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:91700886C>T	uc021ryk.1	-	0	509	c.509G>A	c.(508-510)cGc>cAc	p.R170H	GPR68_uc001xzg.3_Missense_Mutation_p.R170H|GPR68_uc001xzh.3_Missense_Mutation_p.R170H	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	170					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	p.E170K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AAAGCACACGCGGTGCTGGTT	0.627													T	91700886	C	T	91700886	3	4	259	1	0	0	0	0	1	0	0	0	6707	768	27	1	592	1	GPR68	14	91700886	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	17971572	91700886	15648654	45	18168											
BDKRB1	623	broad.mit.edu	37	14	96730468	96730468	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:96730468G>A	uc021sbj.1	+	0	449	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	BDKRB1_uc001yfh.3_Missense_Mutation_p.R150Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	150					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	p.R150R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AGGCAGCAGCGGCGGAGGCAG	0.632													A	96730468	G	A	96730468	3	1	259	1	0	0	0	0	1	0	0	0	1392	1116	39	2	451	2	BDKRB1	14	96730468	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	5029582	96730468	10619072	46	18169											
MKRN3	7681	broad.mit.edu	37	15	23811282	23811282	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr15:23811282C>T	uc001ywh.4	+	0	829	c.353C>T	c.(352-354)tCg>tTg	p.S118L	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S118L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	118						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.S118S(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGTCGCTATTCGCACGACCTT	0.597													T	23811282	C	T	23811282	3	4	259	1	0	0	0	0	1	0	0	0	9608	893	31	2	355	2	MKRN3	15	23811282	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		23811282	78720110	47	18170											
ANKS3	124401	broad.mit.edu	37	16	4764084	4764084	+	Missense_Mutation	SNP	G	G	A	rs146798732		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr16:4764084G>A	uc002cxj.2	-	6	972	c.677C>T	c.(676-678)cCc>cTc	p.P226L	ANKS3_uc002cxi.2_Missense_Mutation_p.P153L|ANKS3_uc021tcj.1_Missense_Mutation_p.P97L|ANKS3_uc021tck.1_Missense_Mutation_p.P119L|ANKS3_uc002cxk.3_Missense_Mutation_p.P97L|ANKS3_uc010uxs.2_Missense_Mutation_p.P153L|ANKS3_uc002cxm.3_Missense_Mutation_p.P20L	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	226								p.P226P(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCAGAGAGGGCGAGTAAGT	0.617													A	4764084	G	A	4764084	3	1	259	1	0	0	0	0	1	0	0	0	690	1232	43	3	1337	3	ANKS3	16	4764084	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08		4764084	85590669	48	18171											
HAS3	3038	broad.mit.edu	37	16	69148326	69148326	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr16:69148326C>T	uc010cfh.3	+	3	1043	c.819C>T	c.(817-819)tgC>tgT	p.C273C	HAS3_uc002ewk.3_Intron|HAS3_uc002ewl.3_Silent_p.C273C	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	273					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGCGGGCCTGCCAGTCCTACT	0.552													T	69148326	C	T	69148326	2	4	259	1	0	0	0	0	0	0	0	1	6963	747	26	3		3	HAS3	16	69148326	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	64384242	69148326	21206427	49	18172											
KRTAP4-4	84616	broad.mit.edu	37	17	39316492	39316492	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:39316492C>G	uc002hwc.3	-	0	492	c.452G>C	c.(451-453)tGt>tCt	p.C151S		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	151	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CCTGGACACACAGCAGCTGGG	0.642													G	39316492	C	G	39316492	3	3	259	1	0	0	0	0	1	0	0	0	8553	478	17	5	52	5	KRTAP4-4	17	39316492	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		39316492	41878718	50	18173											
BRCA1	672	broad.mit.edu	37	17	41244612	41244612	+	Missense_Mutation	SNP	C	C	T	rs80356985		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:41244612C>T	uc002icq.3	-	9	3168	c.2936G>A	c.(2935-2937)cGt>cAt	p.R979H	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.R908H|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.R932H|BRCA1_uc002ict.3_Missense_Mutation_p.R979H|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.R979H|BRCA1_uc002ide.1_Missense_Mutation_p.R810H|BRCA1_uc010cyy.1_Missense_Mutation_p.R979H|BRCA1_uc010whs.1_Missense_Mutation_p.R979H|BRCA1_uc010cyz.2_Missense_Mutation_p.R932H|BRCA1_uc010cza.2_Missense_Mutation_p.R953H|BRCA1_uc010wht.1_Missense_Mutation_p.R683H	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	979					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGTGGTATACGATATGGGTT	0.363			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			T	41244612	C	T	41244612	3	4	259	1	0	0	0	0	1	0	0	0	1498	536	19	1	2781	1	BRCA1	17	41244612	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	1928120	41244612	39950598	51	18174											
ITGA2B	3674	broad.mit.edu	37	17	42457990	42457990	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:42457990C>T	uc002igt.1	-	13	1449	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	473					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.A473T(2)|p.G472R(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)	ACCTGGTTGGCCCCGTAAGCT	0.592													T	42457990	C	T	42457990	3	4	259	1	0	0	0	0	1	0	0	0	7876	739	26	3	1770	3	ITGA2B	17	42457990	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	1213378	42457990	38737220	52	18175											
LRRC30	339291	broad.mit.edu	37	18	7231386	7231386	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr18:7231386C>T	uc010wzk.2	+	0	250	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	84										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAACCAGCTCCGGGTTCTCCC	0.587													T	7231386	C	T	7231386	3	4	259	1	0	0	0	0	1	0	0	0	8985	643	23	2	252	2	LRRC30	18	7231386	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		7231386	70845862	53	18176											
KHSRP	8570	broad.mit.edu	37	19	6420483	6420483	+	Splice_Site	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:6420483C>T	uc002mer.4	-	5	536	c.426_splice	c.e5-1	p.R142_splice		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	142	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CATTGAAGTCCTGTAAAGAGA	0.567													T	6420483	C	T	6420483	5	4	259	1	0	0	0	0	0	0	1	0	8151	695	24	3	1774	3	KHSRP	19	6420483	Splice_Site	SNP	C	TCGA-76-4927-01A-01D-1486-08		6420483	52708500	54	18177											
ZNF136	7695	broad.mit.edu	37	19	12298584	12298584	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:12298584G>A	uc002mti.3	+	3	1538	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	ZNF136_uc010xmh.2_Missense_Mutation_p.R398Q	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	464					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.R464R(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AACTCCTTTCGAACACATGAA	0.393													A	12298584	G	A	12298584	3	1	259	1	0	0	0	0	1	0	0	0	17723	1058	37	2	1405	2	ZNF136	19	12298584	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	5878101	12298584	46830399	55	18178											
RASAL3	64926	broad.mit.edu	37	19	15574925	15574925	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:15574925C>T	uc002nbe.2	-	1	331	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	82					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAGTCGAAGGCGACTGGTCCG	0.672													T	15574925	C	T	15574925	3	4	259	1	0	0	0	0	1	0	0	0	13065	768	27	1	2858	1	RASAL3	19	15574925	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	3276341	15574925	43554058	56	18179											
USHBP1	83878	broad.mit.edu	37	19	17375061	17375061	+	Silent	SNP	A	A	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:17375061A>C	uc002nfs.1	-	1	161	c.48T>G	c.(46-48)gcT>gcG	p.A16A	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.L2R|USHBP1_uc010eam.1_5'UTR	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	16							PDZ domain binding			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						TTACGGGTGGAGCATGCCTCC	0.647													C	17375061	A	C	17375061	2	2	259	1	0	0	0	0	0	0	0	1	17034	291	11	5		5	USHBP1	19	17375061	Silent	SNP	A	TCGA-76-4927-01A-01D-1486-08	1800136	17375061	41753922	57	18180											
MAG	4099	broad.mit.edu	37	19	35786738	35786738	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:35786738G>A	uc002nyy.2	+	3	467	c.269G>A	c.(268-270)cGc>cAc	p.R90H	MAG_uc002nyx.2_Missense_Mutation_p.R90H|MAG_uc010eds.2_Missense_Mutation_p.R65H|MAG_uc002nyz.2_Missense_Mutation_p.R90H	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	90	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.R90H(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCGCAGCCGCCTCCTGGGG	0.652													A	35786738	G	A	35786738	3	1	259	1	0	0	0	0	1	0	0	0	9162	1087	38	1	275	1	MAG	19	35786738	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	18411677	35786738	23342245	58	18181											
PLD3	23646	broad.mit.edu	37	19	40872766	40872766	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:40872766C>T	uc002onm.4	+	4	587	c.189C>T	c.(187-189)ggC>ggT	p.G63G	PLD3_uc021uus.1_Silent_p.G63G|PLD3_uc002onj.4_Silent_p.G63G|PLD3_uc002onn.3_Silent_p.G63G|PLD3_uc002ono.3_Nonsense_Mutation_p.R93*	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	63					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGGAATACGGCGACTTGCATC	0.627													T	40872766	C	T	40872766	2	4	259	1	0	0	0	0	0	0	0	1	12047	755	27	1		1	PLD3	19	40872766	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	5086028	40872766	18256217	59	18182											
PSG3	5669	broad.mit.edu	37	19	43372476	43372476	+	Silent	SNP	T	T	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:43372476T>A	uc002ovd.1	-	4	1158	c.1020A>T	c.(1018-1020)tcA>tcT	p.S340S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Silent_p.S247S|PSG3_uc002ova.2_Silent_p.S247S|PSG3_uc002ouz.2_Silent_p.S340S|PSG3_uc002ovb.3_Silent_p.S340S	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	340	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AATAGGTGAATGAAGGGTAAA	0.468													A	43372476	T	A	43372476	2	1	259	1	0	0	0	0	0	0	0	1	12656	1451	51	5		5	PSG3	19	43372476	Silent	SNP	T	TCGA-76-4927-01A-01D-1486-08	2499710	43372476	15756507	60	18183											
NLRP5	126206	broad.mit.edu	37	19	56538863	56538863	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:56538863G>A	uc002qmj.3	+	6	1264	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M	NLRP5_uc002qmi.3_Missense_Mutation_p.V403M	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	422	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGAGGTCGTGTCTCCCCG	0.547													A	56538863	G	A	56538863	3	1	259	1	0	0	0	0	1	0	0	0	10480	1145	40	1	1290	1	NLRP5	19	56538863	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	13166387	56538863	2590120	61	18184											
ZNF470	388566	broad.mit.edu	37	19	57088760	57088760	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:57088760C>T	uc002qnl.4	+	5	1639	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAAAGCATTCAGCCAGCTTG	0.448													T	57088760	C	T	57088760	2	4	259	1	0	0	0	0	0	0	0	1	17926	825	29	3		3	ZNF470	19	57088760	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	549897	57088760	2040223	62	18185											
GGTLC1	92086	broad.mit.edu	37	20	23966561	23966561	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr20:23966561C>T	uc002wts.3	-	3	488	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	GGTLC1_uc002wtu.3_Missense_Mutation_p.G119S	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	119							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGGACCTGGCCGTCCTGGCCC	0.662													T	23966561	C	T	23966561	3	4	259	1	0	0	0	0	1	0	0	0	6365	652	23	2	334	2	GGTLC1	20	23966561	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		23966561	39058959	63	18186											
CDH22	64405	broad.mit.edu	37	20	44841697	44841697	+	Silent	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr20:44841697G>A	uc002xrm.2	-	4	1368	c.969C>T	c.(967-969)ggC>ggT	p.G323G	CDH22_uc010ghk.1_Silent_p.G323G|CDH22_uc002xrn.2_Silent_p.G74G	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	323	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACACATCGCCGCCGCTGCTGC	0.592													A	44841697	G	A	44841697	2	1	259	1	0	0	0	0	0	0	0	1	3107	1074	38	1		1	CDH22	20	44841697	Silent	SNP	G	TCGA-76-4927-01A-01D-1486-08	20875136	44841697	18183823	64	18187											
PHKA1	5255	broad.mit.edu	37	X	71895990	71895990	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:71895990A>G	uc004eax.4	-	5	849	c.548T>C	c.(547-549)aTa>aCa	p.I183T	PHKA1_uc004eay.4_Missense_Mutation_p.I183T|PHKA1_uc011mqi.2_Missense_Mutation_p.I183T	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	183					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACGTTCCCATATCCCGAAGTC	0.388													G	71895990	A	G	71895990	3	3	259	1	0	0	0	0	1	0	0	0	11843	449	16	4	3231	4	PHKA1	23	71895990	Missense_Mutation	SNP	A	TCGA-76-4927-01A-01D-1486-08		71895990	83374570	65	18188											
PHF6	84295	broad.mit.edu	37	X	133551307	133551307	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:133551307G>C	uc004exj.3	+	8	1145	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	PHF6_uc004exk.3_Missense_Mutation_p.E315Q|PHF6_uc011mvk.2_Missense_Mutation_p.E281Q|PHF6_uc004exi.3_Missense_Mutation_p.E316Q	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN	Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAAATACATTGAAAATATGTC	0.353			"F, N, Splice, Mis"		ETP ALL								C	133551307	G	C	133551307	3	2	259	1	0	0	0	0	1	0	0	0	11838	1291	45	5	1078	5	PHF6	23	133551307	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	61655317	133551307	21719253	66	18189											
SLITRK4	139065	broad.mit.edu	37	X	142717983	142717983	+	Silent	SNP	T	T	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:142717983T>A	uc022cfm.1	-	0	942	c.942A>T	c.(940-942)ggA>ggT	p.G314G	SLITRK4_uc022cfl.1_Silent_p.G314G|SLITRK4_uc004fbx.3_Silent_p.G314G|SLITRK4_uc004fby.3_Silent_p.G314G	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	314						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAACGATTCCAGAGATCT	0.463													A	142717983	T	A	142717983	2	1	259	1	0	0	0	0	0	0	0	1	14745	1770	62	5		5	SLITRK4	23	142717983	Silent	SNP	T	TCGA-76-4927-01A-01D-1486-08	9166676	142717983	12552577	67	18190											
CHD5	26038	broad.mit.edu	37	1	6184051	6184051	+	Silent	SNP	G	G	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:6184051G>C	uc001amb.2	-	30	4767	c.4656C>G	c.(4654-4656)ccC>ccG	p.P1552P	CHD5_uc001alz.2_Silent_p.P409P|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1552					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGGGCTGGCGGGCACTGGTG	0.677													C	6184051	G	C	6184051	2	2	260	1	0	0	0	0	0	0	0	1	3328	1103	39	5		5	CHD5	1	6184051	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08		6184051	243066570	1	18191											
PEX14	5195	broad.mit.edu	37	1	10555343	10555343	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:10555343C>G	uc001arn.3	+	1	70	c.49C>G	c.(49-51)Cca>Gca	p.P17A	PEX14_uc001arm.1_Non-coding_Transcript|PEX14_uc009vmu.1_Missense_Mutation_p.P17A|PEX14_uc009vmv.3_5'UTR|PEX14_uc010oam.2_5'UTR|PEX14_uc010oan.2_Missense_Mutation_p.P17A|PEX14_uc001arl.3_Non-coding_Transcript	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	17					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCTCTACTCCAGGAAGTGA	0.428											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	10555343	C	G	10555343	3	3	260	1	0	0	0	0	1	0	0	0	11742	855	30	5	55	5	PEX14	1	10555343	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	4371292	10555343	238695278	2	18192											
UBR4	23352	broad.mit.edu	37	1	19412732	19412732	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:19412732G>A	uc001bbi.3	-	100	14724	c.14720C>T	c.(14719-14721)gCc>gTc	p.A4907V	UBR4_uc010ocv.2_Missense_Mutation_p.A430V|UBR4_uc009vph.3_Missense_Mutation_p.A541V|UBR4_uc010ocw.2_Missense_Mutation_p.A571V|UBR4_uc001bbg.3_Missense_Mutation_p.A618V|UBR4_uc001bbh.3_Missense_Mutation_p.A616V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4907					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGCAGGGCGGCACTCTCCCA	0.612													A	19412732	G	A	19412732	3	1	260	1	0	0	0	0	1	0	0	0	16901	1203	42	3	855	3	UBR4	1	19412732	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	8857389	19412732	229837889	3	18193											
FUCA1	2517	broad.mit.edu	37	1	24180899	24180899	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:24180899C>T	uc001bie.3	-	4	1003	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FUCA1_uc009vqt.2_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	307					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CATGTCACGACGATAGCCCCA	0.393													T	24180899	C	T	24180899	3	4	260	1	0	0	0	0	1	0	0	0	6094	536	19	1	496	1	FUCA1	1	24180899	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	4768167	24180899	225069722	4	18194											
PTPRF	5792	broad.mit.edu	37	1	44084401	44084401	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:44084401G>A	uc001cjr.3	+	25	4812	c.4472G>A	c.(4471-4473)cGc>cAc	p.R1491H	PTPRF_uc001cjs.3_Missense_Mutation_p.R1482H|PTPRF_uc001cju.3_Missense_Mutation_p.R880H|PTPRF_uc009vwt.3_Missense_Mutation_p.R1051H|PTPRF_uc001cjv.3_Missense_Mutation_p.R962H|PTPRF_uc001cjw.3_Missense_Mutation_p.R717H	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1491	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TACACTGTGCGCACCTTCGCA	0.572													A	44084401	G	A	44084401	3	1	260	1	0	0	0	0	1	0	0	0	12801	1087	38	1	4566	1	PTPRF	1	44084401	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	19903502	44084401	205166220	5	18195											
MUTYH	4595	broad.mit.edu	37	1	45797967	45797967	+	Silent	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:45797967C>T	uc001cnm.3	-	9	1011	c.795G>A	c.(793-795)caG>caA	p.Q265Q	MUTYH_uc001cnf.3_Silent_p.Q240Q|MUTYH_uc009vxo.3_Silent_p.Q240Q|MUTYH_uc001cng.3_Silent_p.Q251Q|MUTYH_uc001cnj.3_Silent_p.Q148Q|MUTYH_uc001cni.3_Silent_p.Q240Q|MUTYH_uc001cnh.3_Silent_p.Q241Q|MUTYH_uc001cnl.3_Silent_p.Q254Q|MUTYH_uc009vxp.3_Silent_p.Q268Q|MUTYH_uc001cnn.3_Silent_p.Q255Q|MUTYH_uc001cno.3_Silent_p.Q148Q|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	265					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGTCCACCAGCTGCTGGGCTA	0.597			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				T	45797967	C	T	45797967	2	4	260	1	0	0	0	0	0	0	0	1	9993	796	28	3		3	MUTYH	1	45797967	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	1713566	45797967	203452654	6	18196											
DENND2C	163259	broad.mit.edu	37	1	115167981	115167981	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:115167981G>C	uc001efd.1	-	3	1327	c.625C>G	c.(625-627)Cct>Gct	p.P209A	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.P209A	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	209										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGGCAAAGGATTTATGGAA	0.378													C	115167981	G	C	115167981	3	2	260	1	0	0	0	0	1	0	0	0	4430	1174	41	5	2058	5	DENND2C	1	115167981	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	69370014	115167981	134082640	7	18197											
HIST2H3D	653604	broad.mit.edu	37	1	149785226	149785226	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:149785226G>C	uc010pbl.2	-	0	11	c.11C>G	c.(10-12)aCt>aGt	p.T4S	HIST2H2BF_uc010pbj.2_5'Flank|HIST2H2BF_uc010pbk.2_5'Flank|HIST2H2BF_uc001esr.3_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	Homo sapiens histone cluster 2, H3d (HIST2H3D), mRNA.	4					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGTCTGCTTAGTACGGGCCAT	0.567													C	149785226	G	C	149785226	3	2	260	1	0	0	0	0	1	0	0	0	7181	1029	36	5	401	5	HIST2H3D	1	149785226	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	34617245	149785226	99465395	8	18198											
FLG	2312	broad.mit.edu	37	1	152285914	152285914	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:152285914C>A	uc001ezu.1	-	2	1484	c.1448G>T	c.(1447-1449)gGa>gTa	p.G483V	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	483	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			CCCGGTCCGTCCATGGGCAGA	0.607									Ichthyosis				A	152285914	C	A	152285914	3	1	260	1	0	0	0	0	1	0	0	0	5922	855	30	5	10741	5	FLG	1	152285914	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	2500688	152285914	96964707	9	18199											
UBAP2L	9898	broad.mit.edu	37	1	154242707	154242707	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:154242707C>T	uc001fep.4	+	26	3367	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	UBAP2L_uc010pel.2_Intron|UBAP2L_uc001feq.3_Intron|UBAP2L_uc001fer.3_Missense_Mutation_p.S280F|HAX1_uc001fet.3_5'Flank|HAX1_uc001fes.3_5'Flank|HAX1_uc010peo.2_5'Flank|HAX1_uc009wou.3_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	1067					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGACCAGCTCCATCCCGCAG	0.562													T	154242707	C	T	154242707	3	4	260	1	0	0	0	0	1	0	0	0	16835	855	30	3	3356	3	UBAP2L	1	154242707	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	1956793	154242707	95007914	10	18200											
SMG7	9887	broad.mit.edu	37	1	183486872	183486872	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:183486872A>G	uc001gqg.3	+	3	479	c.229A>G	c.(229-231)Aag>Gag	p.K77E	SMG7_uc010pob.2_Missense_Mutation_p.K106E|SMG7_uc021pga.1_Missense_Mutation_p.K35E|SMG7_uc001gqf.3_Missense_Mutation_p.K77E|SMG7_uc001gqh.3_Missense_Mutation_p.K77E|SMG7_uc010poc.2_Missense_Mutation_p.K35E	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	77					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGGCCAGGCAAAGAATCGAGC	0.443													G	183486872	A	G	183486872	3	3	260	1	0	0	0	0	1	0	0	0	14798	15	1	4	243	4	SMG7	1	183486872	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	29244165	183486872	65763749	11	18201											
APOB	338	broad.mit.edu	37	2	21230333	21230333	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:21230333C>T	uc002red.3	-	25	9535	c.9407G>A	c.(9406-9408)cGt>cAt	p.R3136H		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3136					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3136H(2)|p.R3136C(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAAGGTAGACGCATTTCAGG	0.373													T	21230333	C	T	21230333	3	4	260	1	0	0	0	0	1	0	0	0	785	536	19	1	4300	1	APOB	2	21230333	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		21230333	221969040	12	18202											
NRXN1	9378	broad.mit.edu	37	2	50573861	50573861	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:50573861T>C	uc021vhh.1	-						NRXN1_uc010fbp.3_Missense_Mutation_p.Y76C|NRXN1_uc002rxb.4_Intron|NRXN1_uc021vhg.1_Intron|NRXN1_uc021vhi.1_Intron|NRXN1_uc021vhj.1_Intron|NRXN1_uc002rxc.1_Intron	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGTGACCTGTAGATTGCAAT	0.602													C	50573861	T	C	50573861	3	2	260	1	0	0	0	0	1	0	0	0	10665	1638	57	4	1219	4	NRXN1	2	50573861	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	29343528	50573861	192625512	13	18203											
ETAA1	54465	broad.mit.edu	37	2	67631223	67631226	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:67631223_67631226delCAAA	uc002sdz.1	+	4	1548_1551	c.1409_1412delCAAA	c.(1408-1413)tcaaacfs	p.S470fs		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	470						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TCAAATAAATCAAACAAATTATCC	0.265													-	67631226	CAAA	-	67631223	7	5	260	1	0	1	0	1	0	0	0	0	5267	838	29	0	1427	0	ETAA1	2	67631223	Frame_Shift_Del	DEL	CAAA	TCGA-76-4928-01B-01D-1486-08	17057362	67631223	175568150	14	18204											
SLC9A4	389015	broad.mit.edu	37	2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:103141552C>T	uc002tbz.4	+	9	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	630					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502													T	103141552	C	T	103141552	3	4	260	1	0	0	0	0	1	0	0	0	14716	652	23	2	1926	2	SLC9A4	2	103141552	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	35510329	103141552	140057821	15	18205											
TRANK1	9881	broad.mit.edu	37	3	36898731	36898731	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:36898731C>T	uc003cgj.3	-	11	2598	c.2350G>A	c.(2350-2352)Gac>Aac	p.D784N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	784					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTATCGAAGTCCTGGAGGCAG	0.502													T	36898731	C	T	36898731	3	4	260	1	0	0	0	0	1	0	0	0	16451	855	30	3	6475	3	TRANK1	3	36898731	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		36898731	161123699	16	18206											
CEP97	79598	broad.mit.edu	37	3	101451368	101451368	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:101451368T>G	uc003dvk.1	+	5	625	c.598T>G	c.(598-600)Ttg>Gtg	p.L200V	CEP97_uc010hpm.1_Missense_Mutation_p.L166V|CEP97_uc011bhf.1_Missense_Mutation_p.L200V|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.L38V	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	200						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATTGGAACAGTTGTCGATTAT	0.418													G	101451368	T	G	101451368	3	3	260	1	0	0	0	0	1	0	0	0	3263	1722	60	5	620	5	CEP97	3	101451368	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	64552637	101451368	96571062	17	18207											
TMPRSS7	344805	broad.mit.edu	37	3	111799811	111799811	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:111799811G>T	uc010hqb.2	+	15	2204	c.2034G>T	c.(2032-2034)tgG>tgT	p.W678C	TMPRSS7_uc011bhr.1_Missense_Mutation_p.W533C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	804	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGAAAATGGATTTTGACTG	0.403													T	111799811	G	T	111799811	3	4	260	1	0	0	0	0	1	0	0	0	16249	1183	41	5	2092	5	TMPRSS7	3	111799811	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	10348443	111799811	86222619	18	18208											
MECOM	2122	broad.mit.edu	37	3	168849257	168849257	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:168849257G>A	uc011bpj.1	-	3	976	c.573C>T	c.(571-573)agC>agT	p.S191S	MECOM_uc010hwk.1_Silent_p.S26S|MECOM_uc003ffj.3_Silent_p.S67S|MECOM_uc003ffi.3_Silent_p.S3S|MECOM_uc011bpi.1_Silent_p.S3S|MECOM_uc003ffn.3_Silent_p.S3S|MECOM_uc003ffk.2_Silent_p.S3S|MECOM_uc003ffl.2_Silent_p.S163S|MECOM_uc011bpk.1_Silent_p.S3S|MECOM_uc010hwn.2_Silent_p.S191S|MECOM_uc003ffm.1_Silent_p.S67S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	98							sequence-specific DNA binding transcription factor activity	p.C190G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATAGTCTTCGCTCTTCATGA	0.458													A	168849257	G	A	168849257	2	1	260	1	0	0	0	0	0	0	0	1	9422	1078	38	1		1	MECOM	3	168849257	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	57049446	168849257	29173173	19	18209											
PIK3CA	5290	broad.mit.edu	37	3	178916854	178916854	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:178916854G>A	uc003fjk.3	+	1	398	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	81	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E81K(18)|p.E80K(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGAAAGGGAAGAATTTTTTGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916854	G	A	178916854	3	1	260	1	0	0	0	0	1	0	0	0	11913	943	33	3	243	3	PIK3CA	3	178916854	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	10067597	178916854	19105576	20	18210											
LAMP3	27074	broad.mit.edu	37	3	182870190	182870190	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:182870190G>A	uc003flh.4	-	2	1085	c.861C>T	c.(859-861)ggC>ggT	p.G287G		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	287					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TCACAAATCCGCCCTGAAAAT	0.512													A	182870190	G	A	182870190	2	1	260	1	0	0	0	0	0	0	0	1	8619	1074	38	1		1	LAMP3	3	182870190	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	3953336	182870190	15152240	21	18211											
LSG1	55341	broad.mit.edu	37	3	194373563	194373563	+	Silent	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:194373563C>T	uc003fui.3	-	7	1383	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	356					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AATTGTGTATCTGCCTCTTCT	0.507													T	194373563	C	T	194373563	2	4	260	1	0	0	0	0	0	0	0	1	9049	912	32	3		3	LSG1	3	194373563	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	11503373	194373563	3648867	22	18212											
PCDH7	5099	broad.mit.edu	37	4	30725808	30725808	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:30725808T>C	uc003gsk.1	+	0	3772	c.2764T>C	c.(2764-2766)Ttt>Ctt	p.F922L	PCDH7_uc011bxx.2_Missense_Mutation_p.F922L|PCDH7_uc021xnd.1_Missense_Mutation_p.F922L|PCDH7_uc021xnc.1_Missense_Mutation_p.F922L	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	922					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCACGAAGACTTTTTTACACC	0.383													C	30725808	T	C	30725808	3	2	260	1	0	0	0	0	1	0	0	0	11516	1609	56	4	2766	4	PCDH7	4	30725808	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08		30725808	160428468	23	18213											
SMR3A	10879	broad.mit.edu	37	4	71255518	71255518	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:71255518G>A	uc011cas.2	+	2	274	c.193G>A	c.(193-195)Gca>Aca	p.A65T	SMR3A_uc003hfh.3_Missense_Mutation_p.A65T	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	69	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCTCCTCCCGCACCCTATGG	0.602													A	71255518	G	A	71255518	3	1	260	1	0	0	0	0	1	0	0	0	14811	1087	38	1		1	SMR3A	4	71255518	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	40529710	71255518	119898758	24	18214											
AFM	173	broad.mit.edu	37	4	74364954	74364954	+	Silent	SNP	T	T	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:74364954T>A	uc003hhb.3	+	10	1444	c.1413T>A	c.(1411-1413)gtT>gtA	p.V471V		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	471	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGCCTGTGTTGATAATTTGG	0.388													A	74364954	T	A	74364954	2	1	260	1	0	0	0	0	0	0	0	1	361	1799	63	5		5	AFM	4	74364954	Silent	SNP	T	TCGA-76-4928-01B-01D-1486-08	3109436	74364954	116789322	25	18215											
KLHL8	57563	broad.mit.edu	37	4	88091238	88091238	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:88091238G>A	uc011cdb.1	-	7	1915	c.1530C>T	c.(1528-1530)taC>taT	p.Y510Y	KLHL8_uc003hql.1_Silent_p.Y510Y|KLHL8_uc003hqm.1_Silent_p.Y434Y|KLHL8_uc003hqn.1_Silent_p.Y327Y|KLHL8_uc010ikj.1_Silent_p.Y159Y	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	510										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CACCAACTACGTATAAGCAAC	0.358													A	88091238	G	A	88091238	2	1	260	1	0	0	0	0	0	0	0	1	8395	1140	40	1		1	KLHL8	4	88091238	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	13726284	88091238	103063038	26	18216											
ADH1A	124	broad.mit.edu	37	4	100208729	100208729	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:100208729G>A	uc003hur.2	-	1	226	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.R38C	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	38					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACCTTAATACGAACTTCATGG	0.348													A	100208729	G	A	100208729	3	1	260	1	0	0	0	0	1	0	0	0	307	1058	37	2	1047	2	ADH1A	4	100208729	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	12117491	100208729	90945547	27	18217											
DCHS2	54798	broad.mit.edu	37	4	155241881	155241881	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:155241881G>A	uc003inw.2	-	13	3305	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1102	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAATGGATTCGTGCCAGGGTT	0.453													A	155241881	G	A	155241881	3	1	260	1	0	0	0	0	1	0	0	0	4288	1145	40	1	5493	1	DCHS2	4	155241881	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	55033152	155241881	35912395	28	18218											
TLL1	7092	broad.mit.edu	37	4	166964454	166964454	+	Silent	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:166964454T>C	uc003irh.2	+	11	2054	c.1407T>C	c.(1405-1407)aaT>aaC	p.N469N	TLL1_uc011cjn.2_Silent_p.N469N|TLL1_uc011cjo.2_Silent_p.N293N	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	469	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TACGTAAAAATGAAGGACAGA	0.408													C	166964454	T	C	166964454	2	2	260	1	0	0	0	0	0	0	0	1	15942	1461	51	4		4	TLL1	4	166964454	Silent	SNP	T	TCGA-76-4928-01B-01D-1486-08	11722573	166964454	24189822	29	18219											
GALNT7	51809	broad.mit.edu	37	4	174235303	174235303	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:174235303delA	uc003isz.4	+	8	1667	c.1584delA	c.(1582-1584)ccafs	p.P528fs	GALNT7_uc011ckb.2_Frame_Shift_Del_p.P305fs	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	528					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACCCTTTGCCACCCAAAAATG	0.393													-	174235303	A	-	174235303	7	5	260	1	0	1	0	1	0	0	0	0	6218	146	6	0	1618	0	GALNT7	4	174235303	Frame_Shift_Del	DEL	A	TCGA-76-4928-01B-01D-1486-08	7270849	174235303	16918973	30	18220											
ANKRD55	79722	broad.mit.edu	37	5	55407551	55407551	+	Missense_Mutation	SNP	G	G	A	rs147414262	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:55407551G>A	uc003jqu.3	-	9	1176	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	ANKRD55_uc003jqt.3_Missense_Mutation_p.R54W	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	341										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACGTTGAACCGTCTCTCCTTC	0.512													A	55407551	G	A	55407551	3	1	260	1	0	0	0	0	1	0	0	0	681	1144	40	1	832	1	ANKRD55	5	55407551	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		55407551	125507709	31	18221											
FBN2	2201	broad.mit.edu	37	5	127729056	127729056	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:127729056A>G	uc003kuu.3	-	9	1676	c.1237T>C	c.(1237-1239)Tat>Cat	p.Y413H	FBN2_uc003kuv.2_Missense_Mutation_p.Y380H	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	413	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTCTGCGATATTCCTCTAGA	0.473													G	127729056	A	G	127729056	3	3	260	1	0	0	0	0	1	0	0	0	5703	449	16	4	7725	4	FBN2	5	127729056	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	72321505	127729056	53186204	32	18222											
SPOCK1	6695	broad.mit.edu	37	5	136314406	136314406	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:136314406G>A	uc003lbo.3	-	9	1448	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	SPOCK1_uc003lbp.3_Silent_p.A419A	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	419					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTCTGTCACGGCTCGGGTGT	0.522													A	136314406	G	A	136314406	2	1	260	1	0	0	0	0	0	0	0	1	15078	1103	39	2		2	SPOCK1	5	136314406	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	8585350	136314406	44600854	33	18223											
PCDHAC2	56146	broad.mit.edu	37	5	140174848	140174848	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:140174848C>T	uc003lhd.2	+	0	405	c.299C>T	c.(298-300)gCg>gTg	p.A100V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A100V|PCDHAC2_uc011czy.2_Missense_Mutation_p.A100V	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	115	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGAGCGCGGAATGTAGC	0.542													T	140174848	C	T	140174848	3	4	260	1	0	0	0	0	1	0	0	0	11533	768	27	1		1	PCDHAC2	5	140174848	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	3860442	140174848	40740412	34	18224											
PCDHB6	56130	broad.mit.edu	37	5	140531524	140531524	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:140531524G>A	uc003lir.3	+	0	1686	c.1686G>A	c.(1684-1686)ccG>ccA	p.P562P		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	562					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTGTACCCGCTGCAGAACG	0.726													A	140531524	G	A	140531524	2	1	260	1	0	0	0	0	0	0	0	1	11546	1074	38	1		1	PCDHB6	5	140531524	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	356676	140531524	40383736	35	18225											
UNC5A	90249	broad.mit.edu	37	5	176301280	176301280	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:176301280T>C	uc003mey.3	+	7	1283	c.1091T>C	c.(1090-1092)cTc>cCc	p.L364P	UNC5A_uc010jkg.1_Missense_Mutation_p.L324P	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	364					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|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)			CCCCATCTGCTCACCATCCAG	0.642													C	176301280	T	C	176301280	3	2	260	1	0	0	0	0	1	0	0	0	16988	1551	54	4	1121	4	UNC5A	5	176301280	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	35769756	176301280	4613980	36	18226											
SKIV2L	6499	broad.mit.edu	37	6	31936254	31936254	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:31936254G>A	uc003nyn.1	+	23	3397	c.3008G>A	c.(3007-3009)cGg>cAg	p.R1003Q	SKIV2L_uc011dou.1_Missense_Mutation_p.R845Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R810Q|STK19_uc003nyt.3_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1003						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTCCGGGCCCGGAAGCTGGAG	0.632													A	31936254	G	A	31936254	3	1	260	1	0	0	0	0	1	0	0	0	14359	1116	39	2	3102	2	SKIV2L	6	31936254	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		31936254	139178813	37	18227											
DNAH8	1769	broad.mit.edu	37	6	38903432	38903432	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:38903432A>G	uc021yzh.1	+	76	11631	c.11522A>G	c.(11521-11523)gAa>gGa	p.E3841G	DNAH8_uc003ooe.2_Missense_Mutation_p.E3624G|DNAH8_uc003oog.1_Missense_Mutation_p.E73G|LOC100131047_uc003oof.2_Intron	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						AAGATGAAAGAACTTGAAGAT	0.308													G	38903432	A	G	38903432	3	3	260	1	0	0	0	0	1	0	0	0	4607	246	9	4	11161	4	DNAH8	6	38903432	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	6967178	38903432	132211635	38	18228											
PKHD1	5314	broad.mit.edu	37	6	51497434	51497434	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:51497434A>T	uc003pah.1	-	64	11870	c.11594T>A	c.(11593-11595)cTg>cAg	p.L3865Q		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3865					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			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)					CACAGAGGACAGGGAAGCAGC	0.478													T	51497434	A	T	51497434	3	4	260	1	0	0	0	0	1	0	0	0	11971	188	7	5	642	5	PKHD1	6	51497434	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	12594002	51497434	119617633	39	18229											
DLL1	28514	broad.mit.edu	37	6	170592139	170592140	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:170592139_170592140insTC	uc003qxm.3	-	9	2572_2573	c.2102_2103insGA	c.(2101-2103)gacfs	p.D701fs		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	701					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGTACTTGGTGTCTTTTGAAGT	0.485													TC	170592140	-	TC	170592139	7	5	260	1	0	1	1	0	0	0	0	0	4566	1368	48	0	76	0	DLL1	6	170592139	Frame_Shift_Ins	INS	-	TCGA-76-4928-01B-01D-1486-08	119094705	170592139	522928	40	18230											
ZNF679	168417	broad.mit.edu	37	7	63709526	63709526	+	Silent	SNP	C	C	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:63709526C>A	uc003tsx.3	+	1	300	c.31C>A	c.(31-33)Cga>Aga	p.R11R		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCCTGGAAGCCGAGAAATGGT	0.572													A	63709526	C	A	63709526	2	1	260	1	0	0	0	0	0	0	0	1	18083	644	23	5		5	ZNF679	7	63709526	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08		63709526	95429137	41	18231											
GATS	352954	broad.mit.edu	37	7	99821643	99821643	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:99821643G>A	uc003uua.4	-	2	522	c.273C>T	c.(271-273)aaC>aaT	p.N91N	GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc011kjl.2_5'Flank|GATS_uc010lgu.2_Non-coding_Transcript	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN	Homo sapiens GATS, stromal antigen 3 opposite strand (GATS), transcript variant 1, mRNA.	91										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGACACCACGTTCAGGGCCA	0.622													A	99821643	G	A	99821643	2	1	260	1	0	0	0	0	0	0	0	1	6264	1136	40	1		1	GATS	7	99821643	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	36112117	99821643	59317020	42	18232											
C7orf53	286006	broad.mit.edu	37	7	112129963	112129963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:112129963C>T	uc011kmq.2	+	3	490	c.355C>T	c.(355-357)Cga>Tga	p.R119*	C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Nonsense_Mutation_p.R119*	NM_001134468	NP_872403	Q8N8F7	CG053_HUMAN	Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA.	119						integral to membrane				endometrium(1)|large_intestine(2)|ovary(1)	4						GATCGTAAAGCGACTCAACCA	0.388													T	112129963	C	T	112129963	4	4	260	1	0	0	0	0	0	1	0	0	2402	760	27	1	365	1	C7orf53	7	112129963	Nonsense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	12308320	112129963	47008700	43	18233											
PLXNA4	91584	broad.mit.edu	37	7	131817922	131817922	+	Silent	SNP	G	G	A	rs114567124	by1000genomes	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:131817922G>A	uc003vra.4	-	30	5704	c.5475C>T	c.(5473-5475)agC>agT	p.S1825S	PLXNA4_uc003vqz.4_Silent_p.S110S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1825						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTTGGTCGCTGATGGCTG	0.507													A	131817922	G	A	131817922	2	1	260	1	0	0	0	0	0	0	0	1	12122	1078	38	1		1	PLXNA4	7	131817922	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	19687959	131817922	27320741	44	18234											
SVOPL	136306	broad.mit.edu	37	7	138305867	138305867	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:138305867G>A	uc011kqh.2	-	12	1277	c.1277C>T	c.(1276-1278)aCg>aTg	p.T426M	SVOPL_uc003vue.3_Missense_Mutation_p.T274M	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	426						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGCGCGCATCGTGGTGGGGTA	0.597													A	138305867	G	A	138305867	3	1	260	1	0	0	0	0	1	0	0	0	15421	1145	40	1	213	1	SVOPL	7	138305867	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	6487945	138305867	20832796	45	18235											
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	260	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	2147269	140453136	18685527	46	18236											
C7orf33	202865	broad.mit.edu	37	7	148288176	148288176	+	Silent	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:148288176C>T	uc003wew.3	+	0	520	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.	53								p.G53G(2)|p.G53C(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGTTAGGGGCGGTCCAGGTC	0.512													T	148288176	C	T	148288176	2	4	260	1	0	0	0	0	0	0	0	1	2388	755	27	1		1	C7orf33	7	148288176	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	7835040	148288176	10850487	47	18237											
NPBWR1	2831	broad.mit.edu	37	8	53853296	53853296	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr8:53853296A>G	uc011ldu.2	+	0	829	c.829A>G	c.(829-831)Acc>Gcc	p.T277A		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	277					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GGCGCTCACCACCGACCTCCC	0.642													G	53853296	A	G	53853296	3	3	260	1	0	0	0	0	1	0	0	0	10568	159	6	4	831	4	NPBWR1	8	53853296	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08		53853296	92510726	48	18238											
KCNS2	3788	broad.mit.edu	37	8	99441064	99441064	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr8:99441064C>A	uc003yin.3	+	1	1207	c.857C>A	c.(856-858)aCt>aAt	p.T286N	KCNS2_uc022azb.1_Missense_Mutation_p.T286N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	286						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGCACACCTACTTTAGCCAAC	0.557													A	99441064	C	A	99441064	3	1	260	1	0	0	0	0	1	0	0	0	8089	565	20	5	859	5	KCNS2	8	99441064	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	45587768	99441064	46922958	49	18239											
FBP1	2203	broad.mit.edu	37	9	97367792	97367792	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:97367792C>A	uc004auw.4	-	5	1103	c.772G>T	c.(772-774)Gtc>Ttc	p.V258F	FBP1_uc010mrl.3_Missense_Mutation_p.V258F	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	258					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CCTCCGTAGACCAGAGTGCGA	0.512													A	97367792	C	A	97367792	3	1	260	1	0	0	0	0	1	0	0	0	5705	507	18	5	252	5	FBP1	9	97367792	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		97367792	43845639	50	18240											
LHX2	9355	broad.mit.edu	37	9	126794913	126794913	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:126794913C>T	uc010mwi.1	+	4	1911	c.1172C>T	c.(1171-1173)aCt>aTt	p.T391I	LHX2_uc004boe.1_Missense_Mutation_p.T383I	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	383				GHEPHSPSQTTLTNLF -> AMSLTAPHKRLLPTFSNDSQP PHPTISLKKKLSLV (in Ref. 1; AAB08752).		nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCCGTCTTAACTTCTGTGCCT	0.592													T	126794913	C	T	126794913	3	4	260	1	0	0	0	0	1	0	0	0	8771	565	20	3	1166	3	LHX2	9	126794913	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	29427121	126794913	14418518	51	18241											
PNPLA7	375775	broad.mit.edu	37	9	140374853	140374853	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:140374853T>C	uc010ncj.1	-	22	2828	c.2491A>G	c.(2491-2493)Acg>Gcg	p.T831A	PNPLA7_uc004cnd.1_Missense_Mutation_p.T72A|PNPLA7_uc004cne.1_Missense_Mutation_p.T72A|PNPLA7_uc011mfa.1_Missense_Mutation_p.T214A|PNPLA7_uc004cnf.2_Missense_Mutation_p.T806A	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	806					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTGTGAGCGTGCCATCTACC	0.662													C	140374853	T	C	140374853	3	2	260	1	0	0	0	0	1	0	0	0	12170	1696	59	4	1589	4	PNPLA7	9	140374853	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	13579940	140374853	838578	52	18242											
FAM196A	642938	broad.mit.edu	37	10	128974485	128974485	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr10:128974485G>A	uc001lju.1	-	0	216	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Nonsense_Mutation_p.Q59*|FAM196A_uc001ljv.1_Nonsense_Mutation_p.Q59*|FAM196A_uc009yap.1_Nonsense_Mutation_p.Q59*	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	59										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTGTCCCTCTGCTCATTCTGT	0.587													A	128974485	G	A	128974485	4	1	260	1	0	0	0	0	0	1	0	0	5528	1328	46	3	1276	3	FAM196A	10	128974485	Nonsense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		128974485	6560262	53	18243											
LUZP2	338645	broad.mit.edu	37	11	25100153	25100153	+	Silent	SNP	A	A	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:25100153A>G	uc001mqs.3	+	11	1264	c.990A>G	c.(988-990)aaA>aaG	p.K330K	LUZP2_uc009yif.3_Silent_p.K244K|LUZP2_uc009yig.3_Silent_p.K288K	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	330						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCCCAGAAAAACCATTGACCA	0.348													G	25100153	A	G	25100153	2	3	260	1	0	0	0	0	0	0	0	1	9087	40	2	4		4	LUZP2	11	25100153	Silent	SNP	A	TCGA-76-4928-01B-01D-1486-08		25100153	109906363	54	18244											
ARHGAP20	57569	broad.mit.edu	37	11	110495025	110495025	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:110495025T>C	uc001pkz.1	-	4	649	c.364A>G	c.(364-366)Aac>Gac	p.N122D	ARHGAP20_uc001pky.1_Missense_Mutation_p.N99D|ARHGAP20_uc009yyb.1_Missense_Mutation_p.N86D|ARHGAP20_uc001pla.1_Missense_Mutation_p.N86D	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	122	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		atCTTAAAGTTATTGTTATAT	0.333													C	110495025	T	C	110495025	3	2	260	1	0	0	0	0	1	0	0	0	870	1754	61	4	3259	4	ARHGAP20	11	110495025	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	85394872	110495025	24511491	55	18245											
TMPRSS13	84000	broad.mit.edu	37	11	117789400	117789400	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:117789400C>T	uc001prs.2	-	1	321	c.175G>A	c.(175-177)Gca>Aca	p.A59T	TMPRSS13_uc009yzr.2_Missense_Mutation_p.A59T|TMPRSS13_uc021qrc.1_Missense_Mutation_p.A59T|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Missense_Mutation_p.A59T	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	59	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCTGGAGATGCCTGGGCTGGA	0.697													T	117789400	C	T	117789400	3	4	260	1	0	0	0	0	1	0	0	0	16242	739	26	3	1576	3	TMPRSS13	11	117789400	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	7294375	117789400	17217116	56	18246											
TREH	11181	broad.mit.edu	37	11	118530175	118530175	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:118530175T>C	uc001pty.1	-	11	1381	c.1336A>G	c.(1336-1338)Act>Gct	p.T446A	TREH_uc009zaj.1_Missense_Mutation_p.T415A|TREH_uc001ptz.1_Missense_Mutation_p.T323A	NM_007180	NP_009111	O43280	TREA_HUMAN	Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.	446					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		TACTGGTAAGTCAGGATCCGG	0.617											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	118530175	T	C	118530175	3	2	260	1	0	0	0	0	1	0	0	0	16466	1667	58	4	430	4	TREH	11	118530175	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	740775	118530175	16476341	57	18247											
CCND2	894	broad.mit.edu	37	12	4398029	4398029	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:4398029C>G	uc001qmo.3	+	3	898	c.593C>G	c.(592-594)cCa>cGa	p.P198R		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	198					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCCATGTACCCACCGTCGATG	0.547			T	IGL@	"NHL,CLL"								G	4398029	C	G	4398029	3	3	260	1	0	0	0	0	1	0	0	0	2917	594	21	5	607	5	CCND2	12	4398029	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		4398029	129453866	58	18248											
ACSM4	341392	broad.mit.edu	37	12	7470689	7470689	+	Missense_Mutation	SNP	G	G	A	rs79217312		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:7470689G>A	uc001qsx.1	+	4	832	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	278					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.A278T(3)		endometrium(6)|kidney(1)|lung(14)	21						GGTCAAGGCCGCCATTGGCAG	0.458													A	7470689	G	A	7470689	3	1	260	1	0	0	0	0	1	0	0	0	186	1087	38	1	850	1	ACSM4	12	7470689	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	3072660	7470689	126381206	59	18249											
MRPS35	60488	broad.mit.edu	37	12	27908375	27908375	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:27908375G>A	uc001rih.3	+	7	1035	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	MRPS35_uc001rii.3_3'UTR	NM_021821	NP_068593	P82673	RT35_HUMAN	Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					ACTATTAAATGTGACATGAAT	0.254													A	27908375	G	A	27908375	3	1	260	1	0	0	0	0	1	0	0	0	9844	1377	48	3	994	3	MRPS35	12	27908375	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	20437686	27908375	105943520	60	18250											
GLI1	2735	broad.mit.edu	37	12	57864118	57864118	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:57864118G>A	uc001snx.3	+	11	1689	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	GLI1_uc021qzi.1_Missense_Mutation_p.R491H|GLI1_uc009zpq.3_Missense_Mutation_p.R404H	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	532					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTCCCGCCGCGTGGGCCCC	0.602													A	57864118	G	A	57864118	3	1	260	1	0	0	0	0	1	0	0	0	6437	1087	38	1	1637	1	GLI1	12	57864118	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	29955743	57864118	75987777	61	18251											
SLC6A15	55117	broad.mit.edu	37	12	85270346	85270346	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:85270346A>T	uc001szv.3	-	5	1290	c.797T>A	c.(796-798)aTt>aAt	p.I266N	SLC6A15_uc010sul.2_Missense_Mutation_p.I159N	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	266					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.I266T(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAGGAAGCAAATAAGTACCAC	0.303													T	85270346	A	T	85270346	3	4	260	1	0	0	0	0	1	0	0	0	14678	101	4	5	1423	5	SLC6A15	12	85270346	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	27406228	85270346	48581549	62	18252											
ATP12A	479	broad.mit.edu	37	13	25263441	25263441	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr13:25263441G>A	uc010aaa.3	+	4	807	c.474G>A	c.(472-474)acG>acA	p.T158T	ATP12A_uc001upp.3_Silent_p.T158T	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	158					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.T158M(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCATTTTAACGGGGATCTTTG	0.537													A	25263441	G	A	25263441	2	1	260	1	0	0	0	0	0	0	0	1	1122	1103	39	2		2	ATP12A	13	25263441	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08		25263441	89906437	63	18253											
TTC5	91875	broad.mit.edu	37	14	20767565	20767565	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr14:20767565G>A	uc001vwt.3	-	3	496	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	TTC5_uc001vwu.3_Missense_Mutation_p.R4C	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	147					DNA repair	cytoplasm|nucleus	binding			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)		CGCAGCTGACGAAGCACCATT	0.493													A	20767565	G	A	20767565	3	1	260	1	0	0	0	0	1	0	0	0	16708	1058	37	2	911	2	TTC5	14	20767565	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		20767565	86581975	64	18254											
ISM2	145501	broad.mit.edu	37	14	77948978	77948978	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr14:77948978G>A	uc001xtz.3	-	3	734	c.660C>T	c.(658-660)gcC>gcT	p.A220A	ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Silent_p.A132A	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	220						extracellular region		p.A220A(2)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCGACACCTCGGCCTGGGGGT	0.622													A	77948978	G	A	77948978	2	1	260	1	0	0	0	0	0	0	0	1	7861	1103	39	2		2	ISM2	14	77948978	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	57181413	77948978	29400562	65	18255											
UNC13C	440279	broad.mit.edu	37	15	54542603	54542603	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:54542603G>A	uc021smr.1	+	5	3403	c.3403G>A	c.(3403-3405)Gaa>Aaa	p.E1135K	UNC13C_uc021sms.1_Missense_Mutation_p.E1137K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1137					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAATGCCACGAAAAGTGTCA	0.507													A	54542603	G	A	54542603	3	1	260	1	0	0	0	0	1	0	0	0	16983	1059	37	2	3431	2	UNC13C	15	54542603	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		54542603	47988789	66	18256											
IGDCC3	9543	broad.mit.edu	37	15	65667680	65667680	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:65667680G>A	uc002aos.2	-	1	416	c.164C>T	c.(163-165)cCc>cTc	p.P55L		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	55	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGCTGCCCGGGGACGGCAAC	0.582													A	65667680	G	A	65667680	3	1	260	1	0	0	0	0	1	0	0	0	7568	1232	43	3	2332	3	IGDCC3	15	65667680	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	11125077	65667680	36863712	67	18257											
GRIN2A	2903	broad.mit.edu	37	16	9857171	9857171	+	Silent	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr16:9857171C>T	uc010uym.2	-	13	4540	c.4230G>A	c.(4228-4230)tcG>tcA	p.S1410S	GRIN2A_uc002czo.4_Silent_p.S1410S|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1410					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGAACAGTACGATGCCGTTG	0.502													T	9857171	C	T	9857171	2	4	260	1	0	0	0	0	0	0	0	1	6779	523	19	1		1	GRIN2A	16	9857171	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08		9857171	80497582	68	18258											
HYDIN	54768	broad.mit.edu	37	16	70917889	70917889	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr16:70917889C>T	uc002ezr.3	-	58	10061	c.9910G>A	c.(9910-9912)Ggc>Agc	p.G3304S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3305										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGTCTCGGCCGGAGATATCG	0.532													T	70917889	C	T	70917889	3	4	260	1	0	0	0	0	1	0	0	0	7467	652	23	2	5564	2	HYDIN	16	70917889	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	61060718	70917889	19436864	69	18259											
EIF4A1	1973	broad.mit.edu	37	17	7480924	7480924	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:7480924C>A	uc002gho.2	+	18	3369	c.806C>A	c.(805-807)aCc>aAc	p.T269N	EIF4A1_uc002ghr.1_Missense_Mutation_p.T269N|SNORA67_uc010cml.1_5'Flank|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	269	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TTGTATGAAACCCTGACCATC	0.537													A	7480924	C	A	7480924	3	1	260	1	0	0	0	0	1	0	0	0	5024	507	18	5	836	5	EIF4A1	17	7480924	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		7480924	73714286	70	18260											
PIK3R6	146850	broad.mit.edu	37	17	8741187	8741187	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:8741187G>A	uc002glq.1	-	5	430	c.190_splice	c.e5-1	p.A64_splice	PIK3R6_uc002glr.1_Splice_Site|PIK3R6_uc002gls.1_Splice_Site	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	64					platelet activation	cytosol											CTGGCTTTCCGCCTGGAAAAC	0.587													A	8741187	G	A	8741187	3	1	260	1	0	0	0	0	1	0	0	0	11923	1101	38	1	2136	1	PIK3R6	17	8741187	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	1260263	8741187	72454023	71	18261											
MYH8	4626	broad.mit.edu	37	17	10316043	10316043	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:10316043C>T	uc002gmm.2	-	12	1245	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	384	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCTTGTCAGCGACTGCAGAG	0.423									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				T	10316043	C	T	10316043	3	4	260	1	0	0	0	0	1	0	0	0	10041	768	27	1	4775	1	MYH8	17	10316043	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	1574856	10316043	70879167	72	18262											
CPD	1362	broad.mit.edu	37	17	28772878	28772881	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:28772878_28772881delTTAA	uc002hfb.2	+	11	2770_2773	c.2713_2716delTTAA	c.(2713-2718)ttaattfs	p.L905fs	CPD_uc010wbo.2_Frame_Shift_Del_p.L658fs|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	905	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GTTTGAAACTTTAATTAAAGACCT	0.417													-	28772881	TTAA	-	28772878	7	5	260	1	0	1	0	1	0	0	0	0	3798	1838	64	0	2759	0	CPD	17	28772878	Frame_Shift_Del	DEL	TTAA	TCGA-76-4928-01B-01D-1486-08	18456835	28772878	52422332	73	18263											
ORMDL3	94103	broad.mit.edu	37	17	38080398	38080398	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:38080398C>T	uc002htj.2	-	1	229	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ORMDL3_uc002hti.1_Non-coding_Transcript|ORMDL3_uc002htk.2_Missense_Mutation_p.R20H	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	Homo sapiens ORM1-like 3 (S. cerevisiae) (ORMDL3), mRNA.	20					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CCAGATGCCACGGCTGTTCAT	0.602													T	38080398	C	T	38080398	3	4	260	1	0	0	0	0	1	0	0	0	11271	536	19	1	414	1	ORMDL3	17	38080398	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	9307520	38080398	43114812	74	18264											
CNTNAP1	8506	broad.mit.edu	37	17	40837035	40837035	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:40837035G>A	uc002iay.3	+	3	606	c.390G>A	c.(388-390)tcG>tcA	p.S130S	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	130	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGAACGAGTCGGCGGTGGTGC	0.562													A	40837035	G	A	40837035	2	1	260	1	0	0	0	0	0	0	0	1	3646	1103	39	2		2	CNTNAP1	17	40837035	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	2756637	40837035	40358175	75	18265											
WIPI1	55062	broad.mit.edu	37	17	66449078	66449078	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:66449078C>T	uc010dey.3	-	1	227	c.136G>A	c.(136-138)Gag>Aag	p.E46K	WIPI1_uc010wqo.2_Intron	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	46					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TCCAGCTGCTCCACAGAACTC	0.488													T	66449078	C	T	66449078	3	4	260	1	0	0	0	0	1	0	0	0	17367	864	30	3	1252	3	WIPI1	17	66449078	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	25612043	66449078	14746132	76	18266											
GPR142	350383	broad.mit.edu	37	17	72368095	72368095	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:72368095G>A	uc021ucp.1	+	3	745	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	GPR142_uc010wqy.2_Missense_Mutation_p.A249T	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	249						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGTCTGGATCGCCATCCTGCT	0.692													A	72368095	G	A	72368095	3	1	260	1	0	0	0	0	1	0	0	0	6650	1087	38	1	759	1	GPR142	17	72368095	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	5919017	72368095	8827115	77	18267											
ST8SIA5	29906	broad.mit.edu	37	18	44260035	44260035	+	Silent	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr18:44260035G>A	uc010xcy.1	-	7	1777	c.1209C>T	c.(1207-1209)cgC>cgT	p.R403R	ST8SIA5_uc002lci.1_Silent_p.R214R|ST8SIA5_uc002lcj.1_Silent_p.R367R|ST8SIA5_uc010xcz.1_Silent_p.R336R	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	367					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCGTGTGCACGCGGAGGATGC	0.652													A	44260035	G	A	44260035	2	1	260	1	0	0	0	0	0	0	0	1	15234	1074	38	1		1	ST8SIA5	18	44260035	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08		44260035	33817213	78	18268											
CDH7	1005	broad.mit.edu	37	18	63430143	63430143	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr18:63430143C>T	uc002lkb.3	+	1	491	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CDH7_uc002ljz.3_Missense_Mutation_p.S22F|CDH7_uc002lka.3_Missense_Mutation_p.S22F	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	22					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTGTGTTTTTCTGGGATGAGT	0.433													T	63430143	C	T	63430143	3	4	260	1	0	0	0	0	1	0	0	0	3115	913	32	3	67	3	CDH7	18	63430143	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	19170108	63430143	14647105	79	18269											
KLK15	55554	broad.mit.edu	37	19	51330305	51330305	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr19:51330305G>A	uc002ptl.3	-	2	341	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	KLK15_uc002ptm.3_Missense_Mutation_p.R104C|KLK15_uc002ptn.3_Missense_Mutation_p.R104C|KLK15_uc002pto.3_Missense_Mutation_p.R103C|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.R103C|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	104	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ATGTCGTTGCGGTGGCTGCGC	0.697													A	51330305	G	A	51330305	3	1	260	1	0	0	0	0	1	0	0	0	8403	1116	39	2	472	2	KLK15	19	51330305	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		51330305	7798678	80	18270											
NLRP5	126206	broad.mit.edu	37	19	56539657	56539657	+	Silent	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr19:56539657C>T	uc002qmj.3	+	6	2058	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	NLRP5_uc002qmi.3_Silent_p.D667D	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	686						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACACCCTGGACGCCTTCCACT	0.542													T	56539657	C	T	56539657	2	4	260	1	0	0	0	0	0	0	0	1	10480	535	19	1		1	NLRP5	19	56539657	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	5209352	56539657	2589326	81	18271											
TGM3	7053	broad.mit.edu	37	20	2312692	2312692	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:2312692C>T	uc002wfx.4	+	9	1475	c.1378C>T	c.(1378-1380)Ctt>Ttt	p.L460F		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	460					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTTGGGGAAACTTAAACCCAA	0.522													T	2312692	C	T	2312692	3	4	260	1	0	0	0	0	1	0	0	0	15828	565	20	3	1416	3	TGM3	20	2312692	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		2312692	60712828	82	18272											
RPRD1B	58490	broad.mit.edu	37	20	36687859	36687859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:36687859C>T	uc002xho.4	+	4	994	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	198										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TGCTACTGTCCGACAGAAAAT	0.433													T	36687859	C	T	36687859	4	4	260	1	0	0	0	0	0	1	0	0	13616	644	23	2	610	2	RPRD1B	20	36687859	Nonsense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	34375167	36687859	26337661	83	18273											
LBP	3929	broad.mit.edu	37	20	36995435	36995435	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:36995435G>A	uc002xic.1	+	8	979	c.944G>A	c.(943-945)cGa>cAa	p.R315Q		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	315					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCTAATATCCGACTGACCACC	0.537													A	36995435	G	A	36995435	3	1	260	1	0	0	0	0	1	0	0	0	8651	1058	37	2	978	2	LBP	20	36995435	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	307576	36995435	26030085	84	18274											
CHD6	84181	broad.mit.edu	37	20	40065924	40065924	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:40065924T>G	uc002xka.1	-	26	4236	c.4058A>C	c.(4057-4059)cAg>cCg	p.Q1353P	CHD6_uc002xkb.1_Missense_Mutation_p.Q119P	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1353					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTTTGTTTCTGGAGGCCATC	0.398													G	40065924	T	G	40065924	3	3	260	1	0	0	0	0	1	0	0	0	3329	1580	55	5	4133	5	CHD6	20	40065924	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	3070489	40065924	22959596	85	18275											
KCNB1	3745	broad.mit.edu	37	20	48098620	48098620	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:48098620C>T	uc002xur.1	-	0	564	c.398G>A	c.(397-399)tGc>tAc	p.C133Y	KCNB1_uc002xus.1_Missense_Mutation_p.C133Y	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	133					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGGGCCTGGCAGCAGGACTC	0.607													T	48098620	C	T	48098620	3	4	260	1	0	0	0	0	1	0	0	0	8012	710	25	3	2186	3	KCNB1	20	48098620	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	8032696	48098620	14926900	86	18276											
KRTAP20-2	337976	broad.mit.edu	37	21	32007616	32007616	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr21:32007616C>T	uc011adg.2	+	0	34	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	12						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGTGGTCTGCGTTATGGCTA	0.517													T	32007616	C	T	32007616	3	4	260	1	0	0	0	0	1	0	0	0	8537	768	27	1	36	1	KRTAP20-2	21	32007616	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		32007616	16122279	87	18277											
POTEH	23784	broad.mit.edu	37	22	16279238	16279238	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:16279238T>C	uc010gqp.2	-	3	1037	c.985A>G	c.(985-987)Atc>Gtc	p.I329V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.I48V|POTEH_uc002zlj.1_Missense_Mutation_p.I164V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	329										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTTTCTTGATTAAAAATTTC	0.338													C	16279238	T	C	16279238	3	2	260	1	0	0	0	0	1	0	0	0	12267	1493	52	4	680	4	POTEH	22	16279238	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08		16279238	35025328	88	18278											
PRODH	5625	broad.mit.edu	37	22	18912582	18912582	+	Missense_Mutation	SNP	G	G	A	rs147270439		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:18912582G>A	uc002zok.4	-	4	853	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	PRODH_uc002zoj.4_Missense_Mutation_p.R107C|PRODH_uc002zol.4_Missense_Mutation_p.R109C	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	217					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TCGATGCAGCGCAAGAATGTC	0.632													A	18912582	G	A	18912582	3	1	260	1	0	0	0	0	1	0	0	0	12548	1087	38	1	1197	1	PRODH	22	18912582	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	2633344	18912582	32391984	89	18279											
MAPK1	5594	broad.mit.edu	37	22	22142632	22142632	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:22142632T>C	uc002zvn.3	-	5	1010	c.770A>G	c.(769-771)aAt>aGt	p.N257S	MAPK1_uc002zvo.3_Missense_Mutation_p.N257S|MAPK1_uc010gtk.1_Intron	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	257	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	AGCTTTTAAATTTATTATACA	0.353													C	22142632	T	C	22142632	3	2	260	1	0	0	0	0	1	0	0	0	9271	1493	52	4	324	4	MAPK1	22	22142632	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	3230050	22142632	29161934	90	18280											
TMPRSS6	164656	broad.mit.edu	37	22	37470715	37470715	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:37470715C>T	uc003aqt.1	-	11	1438	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	TMPRSS6_uc003aqs.1_Missense_Mutation_p.G468E	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	468	LDL-receptor class A 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GACACAGAGTCCATTCACAGA	0.632													T	37470715	C	T	37470715	3	4	260	1	0	0	0	0	1	0	0	0	16248	855	30	3	1060	3	TMPRSS6	22	37470715	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	15328083	37470715	13833851	91	18281											
ARSF	416	broad.mit.edu	37	X	3021841	3021841	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:3021841G>A	uc022brz.1	+	8	1277	c.1141G>A	c.(1141-1143)Gtc>Atc	p.V381I	ARSF_uc004cre.2_Missense_Mutation_p.V381I|ARSF_uc004crf.2_Missense_Mutation_p.V381I	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	381						extracellular region	arylsulfatase activity|metal ion binding	p.V381I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				TGGAATCCGCGTCCCAGGAAT	0.438													A	3021841	G	A	3021841	3	1	260	1	0	0	0	0	1	0	0	0	991	1145	40	1	1171	1	ARSF	23	3021841	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		3021841	152248719	92	18282											
BRWD3	254065	broad.mit.edu	37	X	79999713	79999713	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:79999713C>T	uc004edt.3	-	7	894	c.631G>A	c.(631-633)Gat>Aat	p.D211N	BRWD3_uc004edp.3_Missense_Mutation_p.D40N|BRWD3_uc004edq.3_5'UTR|BRWD3_uc010nmj.2_5'UTR|BRWD3_uc004edr.3_5'UTR|BRWD3_uc004eds.3_5'UTR|BRWD3_uc004edo.3_5'UTR|BRWD3_uc004edu.3_5'UTR|BRWD3_uc004edv.3_5'UTR|BRWD3_uc004edw.3_5'UTR|BRWD3_uc004edx.3_5'UTR|BRWD3_uc004edy.3_5'UTR|BRWD3_uc004edz.3_5'UTR|BRWD3_uc004eea.3_5'UTR|BRWD3_uc004eeb.3_Intron	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	211										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGGCGTCCATCATCTGTAGCC	0.403													T	79999713	C	T	79999713	3	4	260	1	0	0	0	0	1	0	0	0	1526	826	29	3	4913	3	BRWD3	23	79999713	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	76977872	79999713	75270847	93	18283											
FATE1	89885	broad.mit.edu	37	X	150885868	150885868	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:150885868A>T	uc004fex.3	+	1	315	c.231A>T	c.(229-231)aaA>aaT	p.K77N		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	77						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCAAGAAAATGGTACTGT	0.562													T	150885868	A	T	150885868	3	4	260	1	0	0	0	0	1	0	0	0	5693	11	1	5	237	5	FATE1	23	150885868	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	70886155	150885868	4384692	94	18284											
TNFRSF4	7293	broad.mit.edu	37	1	1147004	1147004	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:1147004C>T	uc001adf.3	-	4	1453	c.855G>A	c.(853-855)ggG>ggA	p.G285G	TNFRSF4_uc001ade.3_Splice_Site_p.G255_splice			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	255					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AACTGCCTCCCCCTGGGGAGG	0.677													T	1147004	C	T	1147004	2	4	261	1	0	0	0	0	0	0	0	1	16294	637	22	3		3	TNFRSF4	1	1147004	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08		1147004	248103617	1	18285											
PABPC4	8761	broad.mit.edu	37	1	40030160	40030160	+	Missense_Mutation	SNP	C	C	T	rs139185037		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:40030160C>T	uc001cdl.2	-	9	2286	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PABPC4_uc010oiv.1_Missense_Mutation_p.R463H|PABPC4_uc001cdm.2_Missense_Mutation_p.R463H	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	463					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCCAGATGGCGAAGAGTTGG	0.542													T	40030160	C	T	40030160	3	4	261	1	0	0	0	0	1	0	0	0	11366	768	27	1	618	1	PABPC4	1	40030160	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	38883156	40030160	209220461	2	18286											
CASQ1	844	broad.mit.edu	37	1	160162639	160162639	+	Silent	SNP	A	A	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:160162639A>T	uc010pja.2	+	1	584	c.327A>T	c.(325-327)gtA>gtT	p.V109V		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	109						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGGCTGGTAGACTCTGAGA	0.522											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	160162639	A	T	160162639	2	4	261	1	0	0	0	0	0	0	0	1	2680	407	15	5		5	CASQ1	1	160162639	Silent	SNP	A	TCGA-76-4929-01A-01D-1486-08	120132479	160162639	89087982	3	18287											
TNFSF18	8995	broad.mit.edu	37	1	173010533	173010533	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:173010533G>A	uc001giu.2	-	2	575	c.574C>T	c.(574-576)Cta>Tta	p.L192L		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	192					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GGATTTGCTAGTAAAATGATA	0.418													A	173010533	G	A	173010533	2	1	261	1	0	0	0	0	0	0	0	1	16306	1020	36	3		3	TNFSF18	1	173010533	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	12847894	173010533	76240088	4	18288											
LHX9	56956	broad.mit.edu	37	1	197887088	197887088	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:197887088C>T	uc001guk.1	+	0	572	c.135C>T	c.(133-135)gcC>gcT	p.A45A	LHX9_uc009wzc.1_Non-coding_Transcript|LHX9_uc001gui.1_Silent_p.A36A	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	45					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGACTGAGGCCCGTCTGGCCA	0.662													T	197887088	C	T	197887088	2	4	261	1	0	0	0	0	0	0	0	1	8777	610	22	3		3	LHX9	1	197887088	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	24876555	197887088	51363533	5	18289											
HADHA	3030	broad.mit.edu	37	2	26457099	26457099	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:26457099C>T	uc002rgy.3	-	4	569	c.439G>A	c.(439-441)Gga>Aga	p.G147R	HADHA_uc010yks.2_Missense_Mutation_p.G60R|HADHA_uc010ykt.1_Missense_Mutation_p.G60R	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	147					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGTCCTCCTCCCAGGCAGGAT	0.433													T	26457099	C	T	26457099	3	4	261	1	0	0	0	0	1	0	0	0	6943	632	22	3	1916	3	HADHA	2	26457099	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		26457099	216742274	6	18290											
FAM123C	205147	broad.mit.edu	37	2	131520666	131520666	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:131520666C>T	uc021voy.1	+	0	1021	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	FAM123C_uc002trw.2_Missense_Mutation_p.R341W|FAM123C_uc010fmv.2_Missense_Mutation_p.R341W|FAM123C_uc010fms.1_Missense_Mutation_p.R341W|FAM123C_uc010fmt.1_Missense_Mutation_p.R341W|FAM123C_uc010fmu.1_Missense_Mutation_p.R341W	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	341								p.R341W(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGACCAATCCCGGCTGGACAC	0.667													T	131520666	C	T	131520666	3	4	261	1	0	0	0	0	1	0	0	0	5424	643	23	2	1023	2	FAM123C	2	131520666	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	105063567	131520666	111678707	7	18291											
PHOSPHO2	493911	broad.mit.edu	37	2	170558142	170558142	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:170558142T>C	uc021vsh.1	+	3	979	c.661T>C	c.(661-663)Tct>Cct	p.S221P	PHOSPHO2_uc021vsi.1_Missense_Mutation_p.S221P|PHOSPHO2_uc021vsj.1_Missense_Mutation_p.S221P|PHOSPHO2_uc021vsg.1_Missense_Mutation_p.S221P|PHOSPHO2_uc002ufg.3_Missense_Mutation_p.S221P|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Missense_Mutation_p.S221P	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN	Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.	221							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						TATGGAATATTCTGTTGTAGT	0.328													C	170558142	T	C	170558142	3	2	261	1	0	0	0	0	1	0	0	0	11857	1783	62	4	663	4	PHOSPHO2	2	170558142	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08	39037476	170558142	72641231	8	18292											
MYO1B	4430	broad.mit.edu	37	2	192248067	192248067	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:192248067A>T	uc010fsg.2	+	15	1608	c.1353_splice	c.e15+1	p.N451_splice	MYO1B_uc002usq.2_Splice_Site_p.N451_splice|MYO1B_uc002usr.2_Splice_Site_p.N451_splice|MYO1B_uc002ust.1_Splice_Site_p.N89_splice	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	451	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			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)			CTAATAGAAAATGTGAGTACT	0.313													T	192248067	A	T	192248067	3	4	261	1	0	0	0	0	1	0	0	0	10069	115	4	5	1406	5	MYO1B	2	192248067	Missense_Mutation	SNP	A	TCGA-76-4929-01A-01D-1486-08	21689925	192248067	50951306	9	18293											
ALS2	57679	broad.mit.edu	37	2	202609022	202609022	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:202609022C>G	uc002uyo.3	-	9	2485	c.2129G>C	c.(2128-2130)aGt>aCt	p.S710T	ALS2_uc002uyp.4_Missense_Mutation_p.S710T|ALS2_uc002uyq.3_Missense_Mutation_p.S710T|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	710	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTTGATATCACTTAGTTTTGA	0.398													G	202609022	C	G	202609022	3	3	261	1	0	0	0	0	1	0	0	0	550	565	20	5	2944	5	ALS2	2	202609022	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	10360955	202609022	40590351	10	18294											
SLC11A1	6556	broad.mit.edu	37	2	219254613	219254613	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:219254613C>T	uc002vhv.3	+	8	1156	c.816C>T	c.(814-816)gcC>gcT	p.A272A	SLC11A1_uc010fvp.1_Silent_p.A272A|SLC11A1_uc010fvq.1_Silent_p.A205A|SLC11A1_uc010zkc.1_Silent_p.A205A|SLC11A1_uc002vhu.1_Silent_p.A67A|SLC11A1_uc002vhw.3_Silent_p.A154A|SLC11A1_uc010fvr.3_Silent_p.A67A	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	272					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGACCGGGCCCGCCGAGCAG	0.537													T	219254613	C	T	219254613	2	4	261	1	0	0	0	0	0	0	0	1	14380	610	22	3		3	SLC11A1	2	219254613	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	16645591	219254613	23944760	11	18295											
RNF123	63891	broad.mit.edu	37	3	49737157	49737157	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr3:49737157C>T	uc003cxh.3	+	11	1022	c.936C>T	c.(934-936)acC>acT	p.T312T	RNF123_uc010hky.1_5'UTR|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	312						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCAGCCCACCGTCCTCCTCA	0.647													T	49737157	C	T	49737157	2	4	261	1	0	0	0	0	0	0	0	1	13433	639	23	2		2	RNF123	3	49737157	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08		49737157	148285273	12	18296											
ALG3	10195	broad.mit.edu	37	3	183962404	183962404	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr3:183962404G>A	uc003fne.2	-	4	742	c.711C>T	c.(709-711)atC>atT	p.I237I	ALG3_uc011brc.1_Silent_p.I202I|ALG3_uc011brd.1_Silent_p.I181I|ALG3_uc011bre.1_Silent_p.I189I	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	237					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCCAGCACAGATTCCCAGCT	0.537													A	183962404	G	A	183962404	2	1	261	1	0	0	0	0	0	0	0	1	520	932	33	3		3	ALG3	3	183962404	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	134225247	183962404	14060026	13	18297											
PDGFRA	5156	broad.mit.edu	37	4	55131090	55131090	+	Silent	SNP	A	A	G			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:55131090A>G	uc003han.4	+	4	964	c.633A>G	c.(631-633)acA>acG	p.T211T	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Silent_p.T105T|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	211	Ig-like C2-type 3.				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.A210V(1)|p.A210fs*7(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)	TTATAGCAACATCAGAGCTGG	0.373			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			G	55131090	A	G	55131090	2	3	261	1	0	0	0	0	0	0	0	1	11661	204	8	4		4	PDGFRA	4	55131090	Silent	SNP	A	TCGA-76-4929-01A-01D-1486-08		55131090	136023186	14	18298											
LPHN3	23284	broad.mit.edu	37	4	62363023	62363023	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:62363023G>A	uc010ihh.3	+	0	185	c.12G>A	c.(10-12)tcG>tcA	p.S4S	LPHN3_uc003hcq.4_Silent_p.S4S|LPHN3_uc010ihg.1_Silent_p.S4S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	4					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTGGCCATCGCAGCTACTAA	0.348													A	62363023	G	A	62363023	2	1	261	1	0	0	0	0	0	0	0	1	8917	1074	38	1		1	LPHN3	4	62363023	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	7231933	62363023	128791253	15	18299											
DCK	1633	broad.mit.edu	37	4	71888254	71888254	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:71888254T>G	uc003hfx.3	+	2	666	c.378T>G	c.(376-378)ttT>ttG	p.F126L	DCK_uc011cbb.2_Missense_Mutation_p.F54L	NM_000788	NP_000779	P27707	DCK_HUMAN	Homo sapiens deoxycytidine kinase (DCK), mRNA.	126					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TATTATTTTTTGAACGATCTG	0.358													G	71888254	T	G	71888254	3	3	261	1	0	0	0	0	1	0	0	0	4290	1809	63	5	388	5	DCK	4	71888254	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08	9525231	71888254	119266022	16	18300											
ANXA3	306	broad.mit.edu	37	4	79507428	79507428	+	Silent	SNP	C	C	T	rs144437584		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:79507428C>T	uc003hld.3	+	5	637	c.327C>T	c.(325-327)aaC>aaT	p.N109N		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	109					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGGGAACAAACGAAGATGCCT	0.343													T	79507428	C	T	79507428	2	4	261	1	0	0	0	0	0	0	0	1	719	535	19	1		1	ANXA3	4	79507428	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	7619174	79507428	111646848	17	18301											
FGG	2266	broad.mit.edu	37	4	155529787	155529787	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:155529787C>T	uc003ioj.3	-	6	823	c.682G>A	c.(682-684)Gta>Ata	p.V228I	FGG_uc003iog.3_Missense_Mutation_p.V228I	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	228	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTGAAATCTACACTGCCATCA	0.343													T	155529787	C	T	155529787	3	4	261	1	0	0	0	0	1	0	0	0	5870	478	17	3	710	3	FGG	4	155529787	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	76022359	155529787	35624489	18	18302											
PLEKHG4B	153478	broad.mit.edu	37	5	181778	181778	+	Missense_Mutation	SNP	G	G	A	rs114040866	by1000genomes	TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:181778G>A	uc003jak.2	+	16	3534	c.3484G>A	c.(3484-3486)Gtc>Atc	p.V1162I		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1162					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			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)		CGACAGCATCGTCAAGGGCAC	0.637													A	181778	G	A	181778	3	1	261	1	0	0	0	0	1	0	0	0	12072	1145	40	1	3550	1	PLEKHG4B	5	181778	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		181778	180733482	19	18303											
BASP1	10409	broad.mit.edu	37	5	17275370	17275370	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:17275370C>T	uc003jfx.3	+	1	224	c.45C>T	c.(43-45)aaC>aaT	p.N15N	BASP1_uc021xws.1_Silent_p.N15N	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	15					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			endometrium(1)|lung(8)	9						ACAATGTGAACGACGAGAAAG	0.567													T	17275370	C	T	17275370	2	4	261	1	0	0	0	0	0	0	0	1	1317	535	19	1		1	BASP1	5	17275370	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	17093592	17275370	163639890	20	18304											
CDH18	1016	broad.mit.edu	37	5	19721516	19721516	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:19721516C>T	uc003jgd.3	-	4	1117	c.583G>A	c.(583-585)Gct>Act	p.A195T	CDH18_uc011cnm.2_Missense_Mutation_p.A195T|CDH18_uc003jgc.3_Missense_Mutation_p.A195T|CDH18_uc021xwu.1_Missense_Mutation_p.A195T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	195	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A195T(2)|p.S194R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACCCGAGCGCTGTTTCCA	0.463													T	19721516	C	T	19721516	3	4	261	1	0	0	0	0	1	0	0	0	3103	768	27	1	1825	1	CDH18	5	19721516	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	2446146	19721516	161193744	21	18305											
PIK3R1	5295	broad.mit.edu	37	5	67575468	67575468	+	Frame_Shift_Del	DEL	G	G	-	rs143572224		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:67575468delG	uc003jva.3	+	4	1121	c.541delG	c.(541-543)gttfs	p.V181fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	181	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGATGTGCACGTTTTGGCTGA	0.393			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67575468	G	-	67575468	7	5	261	1	0	1	0	1	0	0	0	0	11918	1145	40	0	555	0	PIK3R1	5	67575468	Frame_Shift_Del	DEL	G	TCGA-76-4929-01A-01D-1486-08	47853952	67575468	113339792	22	18306											
POU5F2	134187	broad.mit.edu	37	5	93077142	93077142	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:93077142C>T	uc003kkl.1	-	0	168	c.128G>A	c.(127-129)aGg>aAg	p.R43K	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GACCATCACCCTGCCAGGGGC	0.687													T	93077142	C	T	93077142	3	4	261	1	0	0	0	0	1	0	0	0	12283	681	24	3	862	3	POU5F2	5	93077142	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	25501674	93077142	87838118	23	18307											
FTMT	94033	broad.mit.edu	37	5	121187720	121187720	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:121187720C>T	uc003kss.3	+	0	71	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	21					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R20C(1)|p.R20S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCTCTGCGCCCGGTGCGCTGC	0.736													T	121187720	C	T	121187720	3	4	261	1	0	0	0	0	1	0	0	0	6085	652	23	2	64	2	FTMT	5	121187720	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	28110578	121187720	59727540	24	18308											
SLU7	10569	broad.mit.edu	37	5	159842130	159842130	+	Splice_Site	DEL	A	A	-			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:159842130delA	uc003lyg.3	-	2	325	c.170_splice	c.e2+1	p.K57_splice	SLU7_uc003lyh.1_Splice_Site_p.K57_splice|SLU7_uc003lyi.1_Splice_Site_p.K57_splice	NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	57					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAAGTACTTACTTTCCTTCT	0.358													-	159842130	A	-	159842130	8	5	261	1	0	1	0	1	0	0	1	0	14755	405	14	0	1648	0	SLU7	5	159842130	Splice_Site	DEL	A	TCGA-76-4929-01A-01D-1486-08	38654410	159842130	21073130	25	18309											
GABRB2	2561	broad.mit.edu	37	5	160721269	160721269	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:160721269C>T	uc003lys.1	-	10	1576	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	GABRB2_uc011deh.1_Missense_Mutation_p.R254Q|GABRB2_uc003lyr.1_Missense_Mutation_p.R415Q|GABRB2_uc003lyt.1_Missense_Mutation_p.R415Q	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGAGCATTTCGGCCAAAACT	0.532													T	160721269	C	T	160721269	3	4	261	1	0	0	0	0	1	0	0	0	6167	884	31	2	184	2	GABRB2	5	160721269	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	879139	160721269	20193991	26	18310											
FKBPL	63943	broad.mit.edu	37	6	32097113	32097113	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr6:32097113C>T	uc003nzr.3	-	1	715	c.445G>A	c.(445-447)Ggg>Agg	p.G149R	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.G149R	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	149					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTCCATGGCCCTACGCCCATA	0.582													T	32097113	C	T	32097113	3	4	261	1	0	0	0	0	1	0	0	0	5916	681	24	3	608	3	FKBPL	6	32097113	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		32097113	139017954	27	18311											
PKHD1	5314	broad.mit.edu	37	6	51890856	51890856	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr6:51890856G>T	uc003pah.1	-	31	4028	c.3752C>A	c.(3751-3753)aCc>aAc	p.T1251N	PKHD1_uc003pai.3_Missense_Mutation_p.T1251N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1251	IPT/TIG 7.				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			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)					GGCTGGCAGGGTTTCACACCA	0.597													T	51890856	G	T	51890856	3	4	261	1	0	0	0	0	1	0	0	0	11971	1261	44	5	8655	5	PKHD1	6	51890856	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	19793743	51890856	119224211	28	18312											
WBSCR17	64409	broad.mit.edu	37	7	70597844	70597844	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:70597844C>T	uc003tvy.3	+	0	56	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	19						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V18L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCGCGGTAGCCGGCTTCGTG	0.677													T	70597844	C	T	70597844	3	4	261	1	0	0	0	0	1	0	0	0	17261	739	26	3	58	3	WBSCR17	7	70597844	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		70597844	88540819	29	18313											
CLIP2	7461	broad.mit.edu	37	7	73791076	73791076	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:73791076G>A	uc003uam.3	+	9	2672	c.2345G>A	c.(2344-2346)aGt>aAt	p.S782N	CLIP2_uc003uan.3_Missense_Mutation_p.S747N|CLIP2_uc003uao.3_Missense_Mutation_p.S176N	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	782						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAGGTCGAGAGTTTGCGGGAG	0.632													A	73791076	G	A	73791076	3	1	261	1	0	0	0	0	1	0	0	0	3533	1029	36	3	2379	3	CLIP2	7	73791076	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	3193232	73791076	85347587	30	18314											
AKAP9	10142	broad.mit.edu	37	7	91711915	91711915	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:91711915delC	uc003ulg.3	+	31	8324	c.8099delC	c.(8098-8100)gctfs	p.A2700fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.A2692fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.A2323fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.A470fs|AKAP9_uc003ulk.3_5'Flank	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2712	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAATCAGTGGCTACCAAAGCA	0.373			T	BRAF	papillary thyroid								-	91711915	C	-	91711915	7	5	261	1	0	1	0	1	0	0	0	0	459	797	28	0	8225	0	AKAP9	7	91711915	Frame_Shift_Del	DEL	C	TCGA-76-4929-01A-01D-1486-08	17920839	91711915	67426748	31	18315											
JHDM1D	80853	broad.mit.edu	37	7	139824534	139824534	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:139824534C>T	uc003vvm.3	-	6	942	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	313	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGATTCATAACGTGCCAAATT	0.358													T	139824534	C	T	139824534	3	4	261	1	0	0	0	0	1	0	0	0	7948	536	19	1	1943	1	JHDM1D	7	139824534	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	48112619	139824534	19314129	32	18316											
MGAM	8972	broad.mit.edu	37	7	141765179	141765179	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:141765179G>A	uc003vwy.3	+	37	4583	c.4529G>A	c.(4528-4530)cGc>cAc	p.R1510H		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1510	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCATCACCCGCTCCACATTT	0.597													A	141765179	G	A	141765179	3	1	261	1	0	0	0	0	1	0	0	0	9541	1087	38	1	4675	1	MGAM	7	141765179	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	1940645	141765179	17373484	33	18317											
KEL	3792	broad.mit.edu	37	7	142658027	142658027	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:142658027G>A	uc003wcb.3	-	3	598	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	130					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)					AGTATTCTCCGAAGTCGGTTT	0.502													A	142658027	G	A	142658027	3	1	261	1	0	0	0	0	1	0	0	0	8142	1057	37	2	1874	2	KEL	7	142658027	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	892848	142658027	16480636	34	18318											
NEFL	4747	broad.mit.edu	37	8	24813390	24813390	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr8:24813390C>T	uc003xee.3	-	0	742	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	214	Coil 1B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCAAGCTGTCGATGCGCTTC	0.632													T	24813390	C	T	24813390	3	4	261	1	0	0	0	0	1	0	0	0	10315	884	31	2	1008	2	NEFL	8	24813390	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		24813390	121550632	35	18319											
INSL6	11172	broad.mit.edu	37	9	5185459	5185459	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:5185459G>A	uc003zix.3	-	0	160	c.144C>T	c.(142-144)gcC>gcT	p.A48A		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	48						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GGCTCCAGTTGGCATGGCCGC	0.532													A	5185459	G	A	5185459	2	1	261	1	0	0	0	0	0	0	0	1	7770	1335	47	3		3	INSL6	9	5185459	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08		5185459	136027972	36	18320											
NUDT2	318	broad.mit.edu	37	9	34343182	34343182	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:34343182C>T	uc003zuc.3	+	4	475	c.188C>T	c.(187-189)gCa>gTa	p.A63V	NUDT2_uc003zub.3_Missense_Mutation_p.A63V|NUDT2_uc003zud.3_Missense_Mutation_p.A63V|NUDT2_uc022bga.1_Missense_Mutation_p.A63V	NM_147172	NP_671701	P50583	AP4A_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 2 (NUDT2), transcript variant 2, mRNA.	63	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CAAGAGGAAGCAGGCATAGAA	0.493													T	34343182	C	T	34343182	3	4	261	1	0	0	0	0	1	0	0	0	10737	710	25	3	194	3	NUDT2	9	34343182	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	29157723	34343182	106870249	37	18321											
NAA35	60560	broad.mit.edu	37	9	88633637	88633637	+	Silent	SNP	T	T	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:88633637T>C	uc004aoi.4	+	20	2075	c.1938T>C	c.(1936-1938)taT>taC	p.Y646Y	NAA35_uc004aoj.4_Silent_p.Y646Y	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	646					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TCAATAAATATAGCCCTCCTC	0.363													C	88633637	T	C	88633637	2	2	261	1	0	0	0	0	0	0	0	1	10123	1413	49	4		4	NAA35	9	88633637	Silent	SNP	T	TCGA-76-4929-01A-01D-1486-08	54290455	88633637	52579794	38	18322											
PTPN3	5774	broad.mit.edu	37	9	112189356	112189356	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:112189356C>T	uc004bed.2	-	11	987	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	PTPN3_uc004beb.2_Missense_Mutation_p.R161Q|PTPN3_uc004bec.2_Missense_Mutation_p.R161Q|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.R292Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R183Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R5Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R5Q	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	292	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTTGCAAGATCGGTAATTCAG	0.448													T	112189356	C	T	112189356	3	4	261	1	0	0	0	0	1	0	0	0	12789	884	31	2	1926	2	PTPN3	9	112189356	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	23555719	112189356	29024075	39	18323											
RGS3	5998	broad.mit.edu	37	9	116268773	116268773	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:116268773G>A	uc004bhq.3	+	13	1294	c.1085_splice	c.e13+1	p.R362_splice	RGS3_uc004bhr.3_Splice_Site_p.R250_splice|RGS3_uc004bhs.3_Splice_Site_p.R252_splice|RGS3_uc004bht.3_Splice_Site_p.R81_splice|RGS3_uc010muy.3_Splice_Site_p.R81_splice|RGS3_uc004bhu.3_Splice_Site	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	362	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CACGAGATCCGGTGACAGGGG	0.677													A	116268773	G	A	116268773	3	1	261	1	0	0	0	0	1	0	0	0	13306	1130	39	2	1272	2	RGS3	9	116268773	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	4079417	116268773	24944658	40	18324											
NEBL	10529	broad.mit.edu	37	10	21112168	21112168	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:21112168C>T	uc001iqi.3	-	18	2328	c.1931G>A	c.(1930-1932)aGa>aAa	p.R644K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	644					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCTTTAACTCTCTTTAGTTC	0.284													T	21112168	C	T	21112168	3	4	261	1	0	0	0	0	1	0	0	0	10303	913	32	3	1153	3	NEBL	10	21112168	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		21112168	114422579	41	18325											
RBP3	5949	broad.mit.edu	37	10	48390589	48390589	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:48390589C>T	uc001jez.3	-	0	403	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	97	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGGGAGGCTCGGGGGTGCTG	0.627													T	48390589	C	T	48390589	3	4	261	1	0	0	0	0	1	0	0	0	13157	893	31	2	3470	2	RBP3	10	48390589	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	27278421	48390589	87144158	42	18326											
ADO	84890	broad.mit.edu	37	10	64564912	64564912	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:64564912C>T	uc001jmg.3	+	0	397	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.	31							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCGGCGCTTCCGATCGCGACG	0.711													T	64564912	C	T	64564912	2	4	261	1	0	0	0	0	0	0	0	1	325	639	23	2		2	ADO	10	64564912	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	16174323	64564912	70969835	43	18327											
NT5C2	22978	broad.mit.edu	37	10	104934623	104934623	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:104934623G>A	uc001kwo.3	-	2	286	c.93C>T	c.(91-93)gcC>gcT	p.A31A	NT5C2_uc001kwq.3_Silent_p.A31A|NT5C2_uc001kwp.3_Intron	NM_012229	NP_036361	P49902	5NTC_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA.	31					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACCGATGATAGGCTTCTCGAC	0.383													A	104934623	G	A	104934623	2	1	261	1	0	0	0	0	0	0	0	1	10687	987	35	3		3	NT5C2	10	104934623	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	40369711	104934623	30600124	44	18328											
SLC22A25	387601	broad.mit.edu	37	11	62931319	62931319	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr11:62931319G>C	uc001nwr.1	-	8	1621	c.1621C>G	c.(1621-1623)Cct>Gct	p.P541A	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	541					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTCCTCTGAGGGGCAGCTAGG	0.507													C	62931319	G	C	62931319	3	2	261	1	0	0	0	0	1	0	0	0	14454	1232	43	5	26	5	SLC22A25	11	62931319	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		62931319	72075197	45	18329											
LRRC32	2615	broad.mit.edu	37	11	76371933	76371933	+	Missense_Mutation	SNP	G	G	A	rs147861179		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr11:76371933G>A	uc001oxq.4	-	2	947	c.704C>T	c.(703-705)aCg>aTg	p.T235M	LRRC32_uc001oxr.4_Missense_Mutation_p.T235M|LRRC32_uc010rsf.2_Missense_Mutation_p.T235M	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	235						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGGGAGGCCGTCTGAAAGGC	0.617													A	76371933	G	A	76371933	3	1	261	1	0	0	0	0	1	0	0	0	8987	1145	40	1	1288	1	LRRC32	11	76371933	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	13440614	76371933	58634583	46	18330											
PIK3C2G	5288	broad.mit.edu	37	12	18544153	18544153	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:18544153T>C	uc001rdt.3	+	13	2086	c.1970T>C	c.(1969-1971)aTt>aCt	p.I657T	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.I698T|PIK3C2G_uc010sic.2_Missense_Mutation_p.I476T	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	657					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATAAAACATATTGCCAGACTT	0.383													C	18544153	T	C	18544153	3	2	261	1	0	0	0	0	1	0	0	0	11911	1493	52	4	2020	4	PIK3C2G	12	18544153	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08		18544153	115307742	47	18331											
KSR2	283455	broad.mit.edu	37	12	117962680	117962680	+	Silent	SNP	C	C	T	rs140960062	by1000genomes	TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:117962680C>T	uc001two.2	-	13	2164	c.2109G>A	c.(2107-2109)ccG>ccA	p.P703P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	732	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGGTGAGGCGGGCTCATGC	0.557													T	117962680	C	T	117962680	2	4	261	1	0	0	0	0	0	0	0	1	8582	755	27	1		1	KSR2	12	117962680	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	99418527	117962680	15889215	48	18332											
TMEM132D	121256	broad.mit.edu	37	12	130184667	130184667	+	Missense_Mutation	SNP	G	G	A	rs146143180		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:130184667G>A	uc009zyl.1	-	1	984	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	219						integral to membrane		p.P219L(4)|p.P219P(1)|p.P219T(1)|p.Q218H(1)		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)		GGTCCCCTCCGGCTGGTCCAC	0.682													A	130184667	G	A	130184667	3	1	261	1	0	0	0	0	1	0	0	0	16044	1116	39	2	2675	2	TMEM132D	12	130184667	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	12221987	130184667	3667228	49	18333											
LRFN5	145581	broad.mit.edu	37	14	42356720	42356720	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr14:42356720G>T	uc001wvm.3	+	2	2090	c.892G>T	c.(892-894)Gtc>Ttc	p.V298F	LRFN5_uc010ana.3_Missense_Mutation_p.V298F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	298	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGATGAGAGTCCTGGAGGG	0.478										HNSCC(30;0.082)			T	42356720	G	T	42356720	3	4	261	1	0	0	0	0	1	0	0	0	8941	1029	36	5	894	5	LRFN5	14	42356720	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		42356720	64992820	50	18334											
MOAP1	64112	broad.mit.edu	37	14	93650454	93650454	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr14:93650454G>A	uc021saw.1	-	0	134	c.134C>T	c.(133-135)cCc>cTc	p.P45L	MOAP1_uc001ybj.3_Missense_Mutation_p.P45L|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	45					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ctcccccaagggagctaaacc	0.557													A	93650454	G	A	93650454	3	1	261	1	0	0	0	0	1	0	0	0	9680	1232	43	3	925	3	MOAP1	14	93650454	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	51293734	93650454	13699086	51	18335											
RBBP6	5930	broad.mit.edu	37	16	24581488	24581489	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:24581488_24581489delTT	uc002dmh.3	+	16	4517_4518	c.3477_3478delTT	c.(3475-3480)gattttfs	p.D1159fs	RBBP6_uc010vcb.1_Frame_Shift_Del_p.D1026fs|RBBP6_uc002dmi.3_Frame_Shift_Del_p.D1125fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Del_p.D992fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1159					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TAGATAAAGATTTTGAGTCTTC	0.342													-	24581489	TT	-	24581488	7	5	261	1	0	1	0	1	0	0	0	0	13103	1490	52	0	3597	0	RBBP6	16	24581488	Frame_Shift_Del	DEL	TT	TCGA-76-4929-01A-01D-1486-08		24581488	65773265	52	18336											
IRX5	10265	broad.mit.edu	37	16	54967470	54967470	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:54967470C>T	uc002ehv.3	+	2	1137	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	IRX5_uc021tin.1_Silent_p.A378A|IRX5_uc002ehw.3_Silent_p.A313A	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	379					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CGTCGCCGGCCCCGGCGCCGT	0.721													T	54967470	C	T	54967470	2	4	261	1	0	0	0	0	0	0	0	1	7847	610	22	3		3	IRX5	16	54967470	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	30385982	54967470	35387283	53	18337											
CLEC3A	10143	broad.mit.edu	37	16	78064624	78064624	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:78064624C>T	uc002ffh.4	+	2	561	c.480C>T	c.(478-480)aaC>aaT	p.N160N	CLEC3A_uc021tlr.1_Silent_p.N108N	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	160	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CACAGCCTAACGGTGGCAAGC	0.522													T	78064624	C	T	78064624	2	4	261	1	0	0	0	0	0	0	0	1	3510	535	19	1		1	CLEC3A	16	78064624	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	23097154	78064624	12290129	54	18338											
ACAP1	9744	broad.mit.edu	37	17	7253543	7253543	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7253543G>A	uc002ggd.2	+	19	2265	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	KCTD11_uc002gge.4_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	687	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCCAACGCTGACATCGTCAC	0.682													A	7253543	G	A	7253543	3	1	261	1	0	0	0	0	1	0	0	0	118	1290	45	3	2137	3	ACAP1	17	7253543	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		7253543	73941667	55	18339											
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7574003G>A	uc002gim.2	-	9	1218	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(132)|p.R342fs*3(17)|p.0?(8)|p.R342P(3)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.F341fs*4(1)|p.F341C(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.557		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)			A	7574003	G	A	7574003	4	1	261	1	0	0	0	0	0	1	0	0	16378	1124	39	2	165	2	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	320460	7574003	73621207	56	18340											
TP53	7157	broad.mit.edu	37	17	7578476	7578476	+	Missense_Mutation	SNP	G	G	A	rs137852790		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7578476G>A	uc002gim.2	-	4	648	c.454C>T	c.(454-456)Ccg>Tcg	p.P152S	TP53_uc002gig.1_Missense_Mutation_p.P152S|TP53_uc002gih.3_Missense_Mutation_p.P152S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P20S|TP53_uc010cnf.1_Missense_Mutation_p.P20S|TP53_uc002gii.1_Missense_Mutation_p.P20S|TP53_uc010cni.1_Missense_Mutation_p.P152S|TP53_uc010cnh.1_Missense_Mutation_p.P152S|TP53_uc002gij.2_Missense_Mutation_p.P152S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59S|TP53_uc002gio.2_Missense_Mutation_p.P20S|TP53_uc010vug.2_Missense_Mutation_p.P113S	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P151S(66)|p.P152L(64)|p.P152S(44)|p.P151H(27)|p.P152fs*18(20)|p.P152T(14)|p.P151T(14)|p.P151P(12)|p.P152fs*29(10)|p.P152fs*14(10)|p.P151A(9)|p.0?(8)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.P152R(6)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152A(4)|p.P152fs*28(4)|p.P152Q(4)|p.P151_V173del23(2)|p.P152_P153del(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P152del(2)|p.Q144_G154del11(2)|p.P153fs*16(1)|p.P151del(1)|p.T57fs*16(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GTGCCGGGCGGGGGTGTGGAA	0.607		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)			A	7578476	G	A	7578476	3	1	261	1	0	0	0	0	1	0	0	0	16378	1232	43	3	844	3	TP53	17	7578476	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	4473	7578476	73616734	57	18341											
PFAS	5198	broad.mit.edu	37	17	8170745	8170745	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:8170745G>A	uc002gkr.3	+	24	3372	c.3231G>A	c.(3229-3231)cgG>cgA	p.R1077R	PFAS_uc010vuv.2_Silent_p.R653R|PFAS_uc002gks.3_Silent_p.R156R	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	1077	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATGGAGACCGGGAGATGGCCG	0.612													A	8170745	G	A	8170745	2	1	261	1	0	0	0	0	0	0	0	1	11754	1219	43	3		3	PFAS	17	8170745	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	592269	8170745	73024465	58	18342											
KRT13	3860	broad.mit.edu	37	17	39661389	39661389	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:39661389G>A	uc002hwu.1	-	0	477	c.414C>T	c.(412-414)gaC>gaT	p.D138D	KRT13_uc002hwv.1_Silent_p.D138D|KRT13_uc010wfr.2_Silent_p.D31D|KRT13_uc010cxo.3_Silent_p.D138D|KRT13_uc021txk.1_Silent_p.D31D	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	138	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R137H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCAGGTGCCAGTCACGGATCT	0.602													A	39661389	G	A	39661389	2	1	261	1	0	0	0	0	0	0	0	1	8450	1020	36	3		3	KRT13	17	39661389	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	31490644	39661389	41533821	59	18343											
FMNL1	752	broad.mit.edu	37	17	43320637	43320637	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:43320637C>T	uc002iin.3	+	16	2363	c.2163C>T	c.(2161-2163)acC>acT	p.T721T	FMNL1_uc002iiq.3_Silent_p.T299T|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.T48T	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	721	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGCCATCACCCTGCGGAAGG	0.642													T	43320637	C	T	43320637	2	4	261	1	0	0	0	0	0	0	0	1	5951	610	22	3		3	FMNL1	17	43320637	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	3659248	43320637	37874573	60	18344											
RGS9	8787	broad.mit.edu	37	17	63193312	63193312	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:63193312C>T	uc002jfe.3	+	12	1132	c.929C>T	c.(928-930)cCc>cTc	p.P310L	RGS9_uc021ubw.1_Missense_Mutation_p.P307L|RGS9_uc010dem.3_Missense_Mutation_p.P307L|RGS9_uc002jfd.3_Missense_Mutation_p.P307L|RGS9_uc002jfg.3_Missense_Mutation_p.P81L	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	310	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ATCCGAGACCCCAAAGGTCGA	0.423													T	63193312	C	T	63193312	3	4	261	1	0	0	0	0	1	0	0	0	13313	623	22	3	979	3	RGS9	17	63193312	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	19872675	63193312	18001898	61	18345											
ICAM5	7087	broad.mit.edu	37	19	10405102	10405102	+	Silent	SNP	C	C	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr19:10405102C>A	uc002mnu.4	+	8	2081	c.2016C>A	c.(2014-2016)acC>acA	p.T672T	ICAM5_uc002mnv.4_Silent_p.T547T	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	672	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ATGAATCTACCTGCCCAAGTC	0.692													A	10405102	C	A	10405102	2	1	261	1	0	0	0	0	0	0	0	1	7483	668	24	5		5	ICAM5	19	10405102	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08		10405102	48723881	62	18346											
NANP	140838	broad.mit.edu	37	20	25597030	25597030	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:25597030G>C	uc002wuy.3	-	1	342	c.278C>G	c.(277-279)gCt>gGt	p.A93G		NM_152667	NP_689880	Q8TBE9	NANP_HUMAN	Homo sapiens N-acetylneuraminic acid phosphatase (NANP), mRNA.	93					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						ACATTCTTCAGCCAATTTTCT	0.403													C	25597030	G	C	25597030	3	2	261	1	0	0	0	0	1	0	0	0	10154	971	34	5	472	5	NANP	20	25597030	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		25597030	37428490	63	18347											
CDH4	1002	broad.mit.edu	37	20	60509217	60509217	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:60509217C>T	uc002ybn.2	+	14	2571	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	CDH4_uc002ybr.2_Missense_Mutation_p.P791L|CDH4_uc002ybp.2_Missense_Mutation_p.P754L	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	828					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGCGCTGAGCCCCAGTACCCG	0.677													T	60509217	C	T	60509217	3	4	261	1	0	0	0	0	1	0	0	0	3112	623	22	3	2541	3	CDH4	20	60509217	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	34912187	60509217	2516303	64	18348											
NTSR1	4923	broad.mit.edu	37	20	61341151	61341151	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:61341151C>A	uc002ydf.3	+	0	963	c.592C>A	c.(592-594)Ctg>Atg	p.L198M		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	198						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			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)			CGCCTCGGCCCTGCTGGCGGT	0.672													A	61341151	C	A	61341151	3	1	261	1	0	0	0	0	1	0	0	0	10710	680	24	5	594	5	NTSR1	20	61341151	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	831934	61341151	1684369	65	18349											
GAB4	128954	broad.mit.edu	37	22	17450832	17450832	+	Splice_Site	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr22:17450832C>T	uc002zlw.3	-	4	1045	c.937_splice	c.e4+1	p.A313_splice	GAB4_uc010gqs.1_Intron	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	313										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGGTACACACCCTCATTATC	0.597													T	17450832	C	T	17450832	5	4	261	1	0	0	0	0	0	0	1	0	6151	521	18	3	814	3	GAB4	22	17450832	Splice_Site	SNP	C	TCGA-76-4929-01A-01D-1486-08		17450832	33853734	66	18350											
DEPDC5	9681	broad.mit.edu	37	22	32234828	32234828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr22:32234828C>T	uc011alu.2	+	26	2714	c.2512C>T	c.(2512-2514)Cga>Tga	p.R838*	DEPDC5_uc011als.2_Nonsense_Mutation_p.R760*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R829*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R829*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R278*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R159*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R127*|DEPDC5_uc011alx.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	829					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCTATAGCCGAGGTGAGTT	0.458													T	32234828	C	T	32234828	4	4	261	1	0	0	0	0	0	1	0	0	4442	644	23	2	2605	2	DEPDC5	22	32234828	Nonsense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	14783996	32234828	19069738	67	18351											
GYG2	8908	broad.mit.edu	37	X	2799206	2799206	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:2799206G>A	uc004cqs.1	+	11	1740	c.1458G>A	c.(1456-1458)aaG>aaA	p.K486K	GYG2_uc004cqu.1_Silent_p.K454K|GYG2_uc004cqx.2_Silent_p.K415K|GYG2_uc004cqt.1_Silent_p.K455K|GYG2_uc004cqv.1_Silent_p.K229K|GYG2_uc004cqw.1_Silent_p.K446K|GYG2_uc010ndc.1_Silent_p.K264K	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	486					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				ACATGGGGAAGGACGCGTTTG	0.552													A	2799206	G	A	2799206	2	1	261	1	0	0	0	0	0	0	0	1	6906	991	35	3		3	GYG2	23	2799206	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08		2799206	152471354	68	18352											
MXRA5	25878	broad.mit.edu	37	X	3229254	3229254	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:3229254G>A	uc004crg.4	-	6	7147	c.6990C>T	c.(6988-6990)gtC>gtT	p.V2330V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2330	Ig-like C2-type 7.					extracellular region				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)				CGTCCTTCCCGACCTGATTTT	0.542													A	3229254	G	A	3229254	2	1	261	1	0	0	0	0	0	0	0	1	10003	1045	37	2		2	MXRA5	23	3229254	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	430048	3229254	152041306	69	18353											
ARHGAP6	395	broad.mit.edu	37	X	11272748	11272748	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:11272748T>C	uc004cup.1	-	1	1541	c.668A>G	c.(667-669)gAg>gGg	p.E223G	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.E223G|ARHGAP6_uc004cum.1_Missense_Mutation_p.E20G|ARHGAP6_uc004cun.1_Missense_Mutation_p.E43G|ARHGAP6_uc010neb.1_Missense_Mutation_p.E45G|ARHGAP6_uc011mif.1_Missense_Mutation_p.E20G	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	223					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCGGGCCCTCTCCAGCTCTGA	0.522													C	11272748	T	C	11272748	3	2	261	1	0	0	0	0	1	0	0	0	887	1551	54	4	2426	4	ARHGAP6	23	11272748	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08	8043494	11272748	143997812	70	18354											
CDKL5	6792	broad.mit.edu	37	X	18627018	18627018	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:18627018C>T	uc004cym.3	+	12	2285	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	CDKL5_uc004cyn.3_Missense_Mutation_p.R678C|CDKL5_uc022btn.1_Missense_Mutation_p.R669C	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	678					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTTCCATACACGCCAGAAGTC	0.433													T	18627018	C	T	18627018	3	4	261	1	0	0	0	0	1	0	0	0	3157	536	19	1	2078	1	CDKL5	23	18627018	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	7354270	18627018	136643542	71	18355											
IL1RAPL1	11141	broad.mit.edu	37	X	29972739	29972739	+	Silent	SNP	A	A	G			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:29972739A>G	uc004dby.2	+	9	1810	c.1302A>G	c.(1300-1302)ctA>ctG	p.L434L		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	434	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGAAATCCTACCTGATATGC	0.363													G	29972739	A	G	29972739	2	3	261	1	0	0	0	0	0	0	0	1	7661	378	14	4		4	IL1RAPL1	23	29972739	Silent	SNP	A	TCGA-76-4929-01A-01D-1486-08	11345721	29972739	125297821	72	18356											
GRIPAP1	56850	broad.mit.edu	37	X	48831638	48831638	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:48831638G>A	uc004dly.1	-	24	2397	c.2362C>T	c.(2362-2364)Ctt>Ttt	p.L788F		NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	788						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						ATCTCCCGAAGGTTCTCGTCG	0.592													A	48831638	G	A	48831638	3	1	261	1	0	0	0	0	1	0	0	0	6789	1000	35	3	171	3	GRIPAP1	23	48831638	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	18858899	48831638	106438922	73	18357											
NOX1	27035	broad.mit.edu	37	X	100117739	100117739	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:100117739G>A	uc004egj.3	-	4	614	c.408C>T	c.(406-408)tcC>tcT	p.S136S	NOX1_uc004egl.4_Silent_p.S136S|NOX1_uc010nne.3_Silent_p.S99S	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	136	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGGAGGCAAGGGAGCCATCTG	0.453													A	100117739	G	A	100117739	2	1	261	1	0	0	0	0	0	0	0	1	10556	1219	43	3		3	NOX1	23	100117739	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	51286101	100117739	55152821	74	18358											
BHLHB9	80823	broad.mit.edu	37	X	102004877	102004877	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:102004877C>T	uc022cbi.1	+	0	954	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BHLHB9_uc010nog.3_Silent_p.C318C|BHLHB9_uc011mrq.2_Silent_p.C318C|BHLHB9_uc011mrr.2_Silent_p.C318C|BHLHB9_uc011mrs.2_Silent_p.C318C|BHLHB9_uc011mrt.2_Silent_p.C318C|BHLHB9_uc004ejo.3_Silent_p.C318C|BHLHB9_uc011mru.2_Silent_p.C318C|BHLHB9_uc011mrv.2_Silent_p.C318C	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	318			C -> R (in dbSNP:rs4514179).			cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAATGGAATGCTATATGGATT	0.398													T	102004877	C	T	102004877	2	4	261	1	0	0	0	0	0	0	0	1	1420	805	28	3		3	BHLHB9	23	102004877	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	1887138	102004877	53265683	75	18359											
MAGEA4	4103	broad.mit.edu	37	X	151093031	151093031	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:151093031C>T	uc022cgv.1	+	0	895	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_uc004fez.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffa.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffb.3_Missense_Mutation_p.R299C|MAGEA4_uc022cgu.1_Missense_Mutation_p.R327C|MAGEA4_uc004ffc.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffd.3_Missense_Mutation_p.R299C	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	299	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567													T	151093031	C	T	151093031	3	4	261	1	0	0	0	0	1	0	0	0	9168	884	31	2	897	2	MAGEA4	23	151093031	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	49088154	151093031	4177529	76	18360											
KIF1B	23095	broad.mit.edu	37	1	10425617	10425617	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:10425617G>C	uc001aqx.4	+	42	4865	c.4663G>C	c.(4663-4665)Gaa>Caa	p.E1555Q	KIF1B_uc001aqw.4_Missense_Mutation_p.E1509Q|KIF1B_uc001aqy.3_Missense_Mutation_p.E1529Q|KIF1B_uc001aqz.3_Missense_Mutation_p.E1555Q|KIF1B_uc001ara.3_Missense_Mutation_p.E1515Q|KIF1B_uc001arb.3_Missense_Mutation_p.E1541Q	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1555					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.E1509K(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTACCTTTGAAAGCGCCAT	0.552													C	10425617	G	C	10425617	3	2	262	1	0	0	0	0	1	0	0	0	8284	1291	45	5	6172	5	KIF1B	1	10425617	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		10425617	238825004	1	18361											
CLCNKA	1188	broad.mit.edu	37	1	16374889	16374889	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:16374889C>T	uc001axx.4	+	5	686	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	184					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.R184H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGGCCGTGTGCGCACCACGAC	0.662													T	16374889	C	T	16374889	3	4	262	1	0	0	0	0	1	0	0	0	3469	768	27	1		1	CLCNKA	1	16374889	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	5949272	16374889	232875732	2	18362											
CTH	1491	broad.mit.edu	37	1	70881655	70881655	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:70881655G>T	uc001dfd.3	+	1	383	c.185G>T	c.(184-186)cGt>cTt	p.R62L	CTH_uc009wbl.2_Non-coding_Transcript|CTH_uc010oqq.2_Missense_Mutation_p.R62L|CTH_uc001dfe.3_Missense_Mutation_p.R62L	NM_001902	NP_001893	P32929	CGL_HUMAN	Homo sapiens cystathionase (cystathionine gamma-lyase) (CTH), transcript variant 1, mRNA.	62					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GAATATAGCCGTTCTGGAAAT	0.378													T	70881655	G	T	70881655	3	4	262	1	0	0	0	0	1	0	0	0	4009	1145	40	5	191	5	CTH	1	70881655	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	54506766	70881655	178368966	3	18363											
SPRR2B	6701	broad.mit.edu	37	1	153043127	153043127	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:153043127G>A	uc001fbg.3	-	1	249	c.189C>T	c.(187-189)tgC>tgT	p.C63C	SPRR2A_uc001fbf.3_Intron	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	Homo sapiens small proline-rich protein 2B (SPRR2B), mRNA.	63					keratinization	cornified envelope|cytoplasm		p.C63F(1)		endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTTGGCTGGCAGGGTGGGG	0.557													A	153043127	G	A	153043127	2	1	262	1	0	0	0	0	0	0	0	1	15097	1195	42	3		3	SPRR2B	1	153043127	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	82161472	153043127	96207494	4	18364											
CHRNB2	1141	broad.mit.edu	37	1	154542048	154542048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:154542048C>T	uc001ffg.3	+	1	439	c.175C>T	c.(175-177)Cag>Tag	p.Q59*		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	59					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GGTGACAGTACAGCTTATGGT	0.557													T	154542048	C	T	154542048	4	4	262	1	0	0	0	0	0	1	0	0	3391	479	17	3	181	3	CHRNB2	1	154542048	Nonsense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	1498921	154542048	94708573	5	18365											
OBSCN	84033	broad.mit.edu	37	1	228564849	228564849	+	Silent	SNP	A	A	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:228564849A>G	uc009xez.1	+	100	23180	c.23136A>G	c.(23134-23136)gcA>gcG	p.A7712A	OBSCN_uc001hsr.1_Silent_p.A2341A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7712	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACAAGACAGCAGTGCTGCGCG	0.692													G	228564849	A	G	228564849	2	3	262	1	0	0	0	0	0	0	0	1	10812	175	7	4		4	OBSCN	1	228564849	Silent	SNP	A	TCGA-76-4931-01A-01D-1486-08	74022801	228564849	20685772	6	18366											
ZP4	57829	broad.mit.edu	37	1	238050695	238050695	+	Silent	SNP	A	A	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:238050695A>G	uc001hym.3	-	4	1007	c.720T>C	c.(718-720)acT>acC	p.T240T	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	240	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)			TGCCACAGGAAGTAAATGGAA	0.502													G	238050695	A	G	238050695	2	3	262	1	0	0	0	0	0	0	0	1	18215	59	3	4		4	ZP4	1	238050695	Silent	SNP	A	TCGA-76-4931-01A-01D-1486-08	9485846	238050695	11199926	7	18367											
C1orf150	148823	broad.mit.edu	37	1	247712494	247712494	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:247712494A>G	uc001idf.3	+	0	148	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	1										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	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;0.0241)			CTGTGAAAAGATGGGAAATTA	0.488													G	247712494	A	G	247712494	3	3	262	1	0	0	0	0	1	0	0	0	2004	333	12	4	3	4	C1orf150	1	247712494	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08	9661799	247712494	1538127	8	18368											
XDH	7498	broad.mit.edu	37	2	31571198	31571198	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:31571198C>T	uc002rnv.1	-	27	3162	c.3083G>A	c.(3082-3084)gGc>gAc	p.G1028D		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1028					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAGCACAGAGCCATCTGTGTA	0.517													T	31571198	C	T	31571198	3	4	262	1	0	0	0	0	1	0	0	0	17423	739	26	3	954	3	XDH	2	31571198	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		31571198	211628175	9	18369											
SERTAD2	9792	broad.mit.edu	37	2	64863694	64863694	+	Silent	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:64863694C>T	uc021viq.1	-	0	312	c.312G>A	c.(310-312)ccG>ccA	p.P104P	SERTAD2_uc002sde.2_Silent_p.P104P	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	104					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.P104L(1)|p.A103S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TGAAGGCCGGCGGGGCCTCTC	0.697													T	64863694	C	T	64863694	2	4	262	1	0	0	0	0	0	0	0	1	14121	755	27	1		1	SERTAD2	2	64863694	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08	33292496	64863694	178335679	10	18370											
TTN	7273	broad.mit.edu	37	2	179474028	179474028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:179474028G>A	uc021vsy.1	-	221	44530	c.44305C>T	c.(44305-44307)Cga>Tga	p.R14769*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R8464*|TTN_uc021vta.1_Nonsense_Mutation_p.R8397*|TTN_uc021vtb.1_Nonsense_Mutation_p.R8272*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15696	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14769*(2)|p.R8272*(1)|p.R8464*(1)|p.R8397*(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)			AGAGAATCTCGGACGCGTAGC	0.453													A	179474028	G	A	179474028	4	1	262	1	0	0	0	0	0	1	0	0	16732	1124	39	2	56044	2	TTN	2	179474028	Nonsense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	114610334	179474028	63725345	11	18371											
ZFP42	132625	broad.mit.edu	37	4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr4:188924640G>A	uc003izh.1	+	3	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_uc003izi.1_Missense_Mutation_p.V227I|ZFP42_uc021xvm.1_Missense_Mutation_p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	227					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502													A	188924640	G	A	188924640	3	1	262	1	0	0	0	0	1	0	0	0	17647	1145	40	1	681	1	ZFP42	4	188924640	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		188924640	2229636	12	18372											
PCDHB12	56124	broad.mit.edu	37	5	140590123	140590123	+	Silent	SNP	C	C	T	rs147374257		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr5:140590123C>T	uc003liz.3	+	0	1833	c.1644C>T	c.(1642-1644)cgC>cgT	p.R548R	PCDHB12_uc011dak.2_Silent_p.R211R	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	548	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGTGCGCGTGCTGGTGC	0.711													T	140590123	C	T	140590123	2	4	262	1	0	0	0	0	0	0	0	1	11537	755	27	1		1	PCDHB12	5	140590123	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		140590123	40325137	13	18373											
GABRA6	2559	broad.mit.edu	37	5	161113339	161113339	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr5:161113339C>T	uc003lyu.2	+	1	480	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	48					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.L47M(1)|p.R48L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAATCGGCTGCGGCCGGGATT	0.483										TCGA Ovarian(5;0.080)			T	161113339	C	T	161113339	3	4	262	1	0	0	0	0	1	0	0	0	6165	759	27	1	148	1	GABRA6	5	161113339	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	20523216	161113339	19801921	14	18374											
MICALL2	79778	broad.mit.edu	37	7	1485031	1485031	+	Silent	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:1485031C>T	uc003skj.4	-	5	822	c.675G>A	c.(673-675)ggG>ggA	p.G225G	MICALL2_uc003ski.4_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	225	LIM zinc-binding.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTTGTAGGCCCCCGAGTGCA	0.692													T	1485031	C	T	1485031	2	4	262	1	0	0	0	0	0	0	0	1	9574	610	22	3		3	MICALL2	7	1485031	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		1485031	157653632	15	18375											
CARD11	84433	broad.mit.edu	37	7	2984147	2984147	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:2984147G>C	uc003smv.3	-	4	717	c.383C>G	c.(382-384)aCg>aGg	p.T128R		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	128					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.T121M(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGGAAGTGCGTGAGGCCCTC	0.622			Mis		DLBCL								C	2984147	G	C	2984147	3	2	262	1	0	0	0	0	1	0	0	0	2645	1145	40	5	3165	5	CARD11	7	2984147	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	1499116	2984147	156154516	16	18376											
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	262	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	52248896	55233043	103905620	17	18377											
PIK3CG	5294	broad.mit.edu	37	7	106508432	106508432	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:106508432G>A	uc003vdv.4	+	1	511	c.426G>A	c.(424-426)ccG>ccA	p.P142P	PIK3CG_uc003vdu.3_Silent_p.P142P|PIK3CG_uc003vdw.3_Silent_p.P142P	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	142					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			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						AGCGGCACCCGCCCTCCGAGG	0.637													A	106508432	G	A	106508432	2	1	262	1	0	0	0	0	0	0	0	1	11916	1074	38	1		1	PIK3CG	7	106508432	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	51275389	106508432	52630231	18	18378											
ADAM2	2515	broad.mit.edu	37	8	39613418	39613418	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr8:39613418G>A	uc003xnj.3	-	15	1701	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	ADAM2_uc003xnk.3_Silent_p.C523C|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	542	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C542R(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTAATTTTCCGCACTGCAGAT	0.249													A	39613418	G	A	39613418	2	1	262	1	0	0	0	0	0	0	0	1	241	1079	38	1		1	ADAM2	8	39613418	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		39613418	106750604	19	18379											
LMX1B	4010	broad.mit.edu	37	9	129453336	129453336	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr9:129453336A>G	uc011maa.2	+	2	555	c.548A>G	c.(547-549)gAg>gGg	p.E183G	LMX1B_uc004bqi.3_Missense_Mutation_p.E183G|LMX1B_uc004bqj.3_Missense_Mutation_p.E183G	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	160					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGCCCCGACGAGTCCGACTCC	0.667									Nail-Patella Syndrome				G	129453336	A	G	129453336	3	3	262	1	0	0	0	0	1	0	0	0	8862	304	11	4	558	4	LMX1B	9	129453336	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08		129453336	11760095	20	18380											
PTEN	5728	broad.mit.edu	37	10	89712007	89712007	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr10:89712007G>T	uc001kfb.3	+	5	1657	c.625G>T	c.(625-627)Gga>Tga	p.G209*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	209	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTTCAGTGGCGGAACTTGCAG	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89712007	G	T	89712007	4	4	262	1	0	0	0	0	0	1	0	0	12738	1117	39	5	647	5	PTEN	10	89712007	Nonsense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		89712007	45822740	21	18381											
SMC3	9126	broad.mit.edu	37	10	112350788	112350788	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr10:112350788G>A	uc001kze.3	+	16	1836	c.1710G>A	c.(1708-1710)acG>acA	p.T570T		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	570	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.T570T(2)|p.T570M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGTCAGCACGAAGATTTTAA	0.363													A	112350788	G	A	112350788	2	1	262	1	0	0	0	0	0	0	0	1	14784	1045	37	2		2	SMC3	10	112350788	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	22638781	112350788	23183959	22	18382											
TRIM44	54765	broad.mit.edu	37	11	35747531	35747531	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:35747531G>A	uc001mwi.2	+	2	1114	c.807G>A	c.(805-807)gtG>gtA	p.V269V		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	Homo sapiens tripartite motif containing 44 (TRIM44), mRNA.	269						intracellular	protein binding|zinc ion binding			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)				TTCAGAAAGTGATTGCTGATG	0.423													A	35747531	G	A	35747531	2	1	262	1	0	0	0	0	0	0	0	1	16516	1277	45	3		3	TRIM44	11	35747531	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		35747531	99258985	23	18383											
MS4A14	84689	broad.mit.edu	37	11	60183896	60183896	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:60183896G>A	uc001npj.3	+	4	2020	c.1455G>A	c.(1453-1455)cgG>cgA	p.R485R	MS4A14_uc001npi.3_Silent_p.R373R|MS4A14_uc001npn.3_Silent_p.R223R|MS4A14_uc001npk.3_Silent_p.R468R|MS4A14_uc001npl.3_Silent_p.R223R|MS4A14_uc001npm.3_Silent_p.R223R	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	485	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTCAAGACGGCATTCCTTAA	0.393													A	60183896	G	A	60183896	2	1	262	1	0	0	0	0	0	0	0	1	9858	1190	42	3		3	MS4A14	11	60183896	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	24436365	60183896	74822620	24	18384											
PRPF19	27339	broad.mit.edu	37	11	60665709	60665709	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:60665709G>A	uc001nqf.3	-	13	1382	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	392					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GATGGGGCCCGAGTGGCCAGG	0.532													A	60665709	G	A	60665709	3	1	262	1	0	0	0	0	1	0	0	0	12564	1059	37	2	351	2	PRPF19	11	60665709	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	481813	60665709	74340807	25	18385											
HEPHL1	341208	broad.mit.edu	37	11	93778980	93778980	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:93778980G>A	uc001pep.2	+	1	469	c.312G>A	c.(310-312)ttG>ttA	p.L104L		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	104	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.L104L(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCCCATCTTGAGGGCCGAAG	0.468													A	93778980	G	A	93778980	2	1	262	1	0	0	0	0	0	0	0	1	7055	1281	45	3		3	HEPHL1	11	93778980	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	33113271	93778980	41227536	26	18386											
OR10G8	219869	broad.mit.edu	37	11	123900691	123900691	+	Missense_Mutation	SNP	G	G	A	rs116699538	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:123900691G>A	uc001pzp.1	+	0	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCTGTGATCGCTACCTGGCC	0.567													A	123900691	G	A	123900691	3	1	262	1	0	0	0	0	1	0	0	0	10903	1087	38	1	364	1	OR10G8	11	123900691	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	30121711	123900691	11105825	27	18387											
DENND5B	160518	broad.mit.edu	37	12	31545306	31545306	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:31545306G>A	uc001rkh.1	-	20	3617	c.3466C>T	c.(3466-3468)Ctg>Ttg	p.L1156L	DENND5B_uc001rki.1_Silent_p.L1121L	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	1121	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCTCCACACAGCAACACGGTG	0.468													A	31545306	G	A	31545306	2	1	262	1	0	0	0	0	0	0	0	1	4437	962	34	3		3	DENND5B	12	31545306	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		31545306	102306589	28	18388											
OR6C6	283365	broad.mit.edu	37	12	55688853	55688853	+	Missense_Mutation	SNP	G	G	A	rs77411445		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:55688853G>A	uc010sph.2	-	0	164	c.164C>T	c.(163-165)aCg>aTg	p.T55M		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATACATTGGCGTCTTGAGCCG	0.398													A	55688853	G	A	55688853	3	1	262	1	0	0	0	0	1	0	0	0	11194	1145	40	1	782	1	OR6C6	12	55688853	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	24143547	55688853	78163042	29	18389											
AVPR1A	552	broad.mit.edu	37	12	63543656	63543656	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:63543656C>T	uc001sro.1	-	0	2935	c.961G>A	c.(961-963)Gtc>Atc	p.V321I		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	321					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGGTCCAGACGGACATGGGA	0.532													T	63543656	C	T	63543656	3	4	262	1	0	0	0	0	1	0	0	0	1231	536	19	1	303	1	AVPR1A	12	63543656	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	7854803	63543656	70308239	30	18390											
GPR12	2835	broad.mit.edu	37	13	27332980	27332980	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr13:27332980G>A	uc021rhk.1	-	0	985	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	GPR12_uc010aal.3_Missense_Mutation_p.R329C|GPR12_uc010tdl.2_Missense_Mutation_p.R170C	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	329						integral to plasma membrane		p.R329C(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CTGGGCGAGCGCGCTCTCTGG	0.537													A	27332980	G	A	27332980	3	1	262	1	0	0	0	0	1	0	0	0	6635	1087	38	1	23	1	GPR12	13	27332980	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		27332980	87836898	31	18391											
ADCY4	196883	broad.mit.edu	37	14	24795366	24795366	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:24795366C>T	uc001wow.3	-	11	1993	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	ADCY4_uc010toh.2_Missense_Mutation_p.R211H|ADCY4_uc001wox.3_Missense_Mutation_p.R525H|ADCY4_uc001woy.3_Missense_Mutation_p.R525H	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	525					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.R525C(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)		CCGGGGGGTACGGCTCCTGCA	0.592													T	24795366	C	T	24795366	3	4	262	1	0	0	0	0	1	0	0	0	296	536	19	1	1715	1	ADCY4	14	24795366	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		24795366	82554174	32	18392											
GALC	2581	broad.mit.edu	37	14	88431916	88431916	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:88431916G>A	uc001xvt.3	-	8	1073	c.966C>T	c.(964-966)tgC>tgT	p.C322C	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.C299C|GALC_uc010tvx.2_Silent_p.C296C|GALC_uc010tvz.1_Silent_p.C266C|GALC_uc001xvu.2_Silent_p.C322C	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	322					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATCAACCCGCATCTCCCAT	0.448													A	88431916	G	A	88431916	2	1	262	1	0	0	0	0	0	0	0	1	6201	1079	38	1		1	GALC	14	88431916	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	63636550	88431916	18917624	33	18393											
AHNAK2	113146	broad.mit.edu	37	14	105415138	105415138	+	Missense_Mutation	SNP	A	A	C			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:105415138A>C	uc010axc.1	-	6	6770	c.6650T>G	c.(6649-6651)gTg>gGg	p.V2217G	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V2117G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2217						nucleus				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)			TTTCACGTCCACCTGGCCAGC	0.627													C	105415138	A	C	105415138	3	2	262	1	0	0	0	0	1	0	0	0	415	159	6	5	10741	5	AHNAK2	14	105415138	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08	16983222	105415138	1934402	34	18394											
MKRN3	7681	broad.mit.edu	37	15	23810982	23810982	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr15:23810982C>T	uc001ywh.4	+	0	529	c.53C>T	c.(52-54)gCa>gTa	p.A18V	MKRN3_uc001ywi.3_Missense_Mutation_p.A18V|MKRN3_uc010ayi.1_Missense_Mutation_p.A18V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	18						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGGGCCCAGGCAGGTGCTGAG	0.637													T	23810982	C	T	23810982	3	4	262	1	0	0	0	0	1	0	0	0	9608	710	25	3	55	3	MKRN3	15	23810982	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		23810982	78720410	35	18395											
NEO1	4756	broad.mit.edu	37	15	73562540	73562540	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr15:73562540G>A	uc002avm.4	+	16	2876	c.2684G>A	c.(2683-2685)tGg>tAg	p.W895*	NEO1_uc010ukx.2_Nonsense_Mutation_p.W895*|NEO1_uc010uky.2_Nonsense_Mutation_p.W895*|NEO1_uc002avn.4_Nonsense_Mutation_p.W899*|NEO1_uc010ukz.2_Nonsense_Mutation_p.W319*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	895	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACCGTCCGATGGAAAACCAAC	0.448													A	73562540	G	A	73562540	4	1	262	1	0	0	0	0	0	1	0	0	10336	1357	47	3	2750	3	NEO1	15	73562540	Nonsense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	49751558	73562540	28968852	36	18396											
NOMO1	23420	broad.mit.edu	37	16	14968903	14968903	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:14968903G>A	uc002dcv.3	+	18	2131	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N	Mir_548_uc021tdj.1_5'Flank	NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	689						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GTCTTCCATCGACAGTGAACC	0.562													A	14968903	G	A	14968903	3	1	262	1	0	0	0	0	1	0	0	0	10531	1058	37	2	2139	2	NOMO1	16	14968903	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		14968903	75385850	37	18397											
SCNN1B	6338	broad.mit.edu	37	16	23366788	23366788	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:23366788G>A	uc002dln.3	+	3	930	c.754G>A	c.(754-756)Gga>Aga	p.G252R		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	252					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGCCTATTCGGAGCTGAGCC	0.617													A	23366788	G	A	23366788	3	1	262	1	0	0	0	0	1	0	0	0	13928	1117	39	2	764	2	SCNN1B	16	23366788	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	8397885	23366788	66987965	38	18398											
ATP2A1	487	broad.mit.edu	37	16	28914740	28914740	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:28914740G>A	uc002dro.1	+	20	3143	c.2959G>A	c.(2959-2961)Gtt>Att	p.V987I	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V987I|ATP2A1_uc002drp.1_Missense_Mutation_p.V862I	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	987					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTCAAGTTCGTTGCTCGGAA	0.627													A	28914740	G	A	28914740	3	1	262	1	0	0	0	0	1	0	0	0	1136	1145	40	1	3041	1	ATP2A1	16	28914740	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	5547952	28914740	61440013	39	18399											
DNAH2	146754	broad.mit.edu	37	17	7722376	7722376	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr17:7722376C>T	uc002giu.1	+	69	10824	c.10810C>T	c.(10810-10812)Cgg>Tgg	p.R3604W	DNAH2_uc010cnm.1_Missense_Mutation_p.R542W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3604					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3604P(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTTGGCGCGGGAGGTAAG	0.607													T	7722376	C	T	7722376	3	4	262	1	0	0	0	0	1	0	0	0	4602	759	27	1	11088	1	DNAH2	17	7722376	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		7722376	73472834	40	18400											
KRT33A	3883	broad.mit.edu	37	17	39506774	39506774	+	Silent	SNP	C	C	T	rs61736449	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr17:39506774C>T	uc002hwk.1	-	0	283	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	82	Coil 1A.|Rod.			A -> T (in Ref. 3; BAG36784).		intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCTCCAGCTCCGCGTTGTCCC	0.602													T	39506774	C	T	39506774	2	4	262	1	0	0	0	0	0	0	0	1	8469	639	23	2		2	KRT33A	17	39506774	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08	31784398	39506774	41688436	41	18401											
ZNF516	9658	broad.mit.edu	37	18	74153649	74153649	+	Silent	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr18:74153649G>A	uc021ulp.1	-	2	1680	c.1362C>T	c.(1360-1362)cgC>cgT	p.R454R		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGACGTACTCGCGCCTGTCCT	0.731													A	74153649	G	A	74153649	2	1	262	1	0	0	0	0	0	0	0	1	17957	1074	38	1		1	ZNF516	18	74153649	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		74153649	3923599	42	18402											
GRIN3B	116444	broad.mit.edu	37	19	1005285	1005285	+	Silent	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:1005285C>T	uc002lqo.1	+	2	1785	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	595					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TCACCGTGTACGAGTGGCGTA	0.652													T	1005285	C	T	1005285	2	4	262	1	0	0	0	0	0	0	0	1	6784	547	19	1		1	GRIN3B	19	1005285	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		1005285	58123698	43	18403											
DENND1C	79958	broad.mit.edu	37	19	6472910	6472910	+	Missense_Mutation	SNP	A	A	C			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:6472910A>C	uc002mfe.3	-	14	1240	c.1148T>G	c.(1147-1149)cTg>cGg	p.L383R	DENND1C_uc002mfb.3_5'UTR|DENND1C_uc002mfc.3_5'UTR|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.L339R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	383	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CTGTTTGAACAGCTGCAGGTG	0.627													C	6472910	A	C	6472910	3	2	262	1	0	0	0	0	1	0	0	0	4428	188	7	5	1293	5	DENND1C	19	6472910	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08	5467625	6472910	52656073	44	18404											
CD209	30835	broad.mit.edu	37	19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	rs139712001	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:7809880C>T	uc002mht.2	-	4	914	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_uc010xju.1_Missense_Mutation_p.A122T|CD209_uc010dvp.2_Missense_Mutation_p.A259T|CD209_uc002mhr.2_Missense_Mutation_p.A259T|CD209_uc002mhs.2_Missense_Mutation_p.A213T|CD209_uc002mhu.2_Missense_Mutation_p.A191T|CD209_uc010dvq.2_Missense_Mutation_p.A283T|CD209_uc002mhq.2_Missense_Mutation_p.A283T|CD209_uc002mhv.2_Missense_Mutation_p.A259T|CD209_uc002mhx.2_Missense_Mutation_p.A239T|CD209_uc002mhw.2_Missense_Mutation_p.A147T|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	283	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A283T(2)|p.T282T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													T	7809880	C	T	7809880	3	4	262	1	0	0	0	0	1	0	0	0	2984	768	27	1	379	1	CD209	19	7809880	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	1336970	7809880	51319103	45	18405											
ZNF761	388561	broad.mit.edu	37	19	53959098	53959098	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:53959098C>T	uc010eqp.3	+	6	1795	c.1337C>T	c.(1336-1338)aCc>aTc	p.T446I	ZNF761_uc010ydy.2_Missense_Mutation_p.T392I|ZNF761_uc002qbt.2_Missense_Mutation_p.T392I	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGTGGAAAGACCTTTAGCCGG	0.383													T	53959098	C	T	53959098	3	4	262	1	0	0	0	0	1	0	0	0	18133	507	18	3	1348	3	ZNF761	19	53959098	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	46149218	53959098	5169885	46	18406											
CEP250	11190	broad.mit.edu	37	20	34092288	34092288	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr20:34092288C>G	uc021wco.1	+	29	6738	c.6091C>G	c.(6091-6093)Ctc>Gtc	p.L2031V	CEP250_uc010zve.2_Missense_Mutation_p.L1399V	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2031	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGACCAGGATCTCCGATACCA	0.597													G	34092288	C	G	34092288	3	3	262	1	0	0	0	0	1	0	0	0	3252	913	32	5	6197	5	CEP250	20	34092288	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		34092288	28933232	47	18407											
SUSD2	56241	broad.mit.edu	37	22	24579586	24579586	+	Silent	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:24579586C>T	uc002zzn.1	+	2	455	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	137					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACGGCCACTCCTTCCCTCGTG	0.642													T	24579586	C	T	24579586	2	4	262	1	0	0	0	0	0	0	0	1	15405	668	24	3		3	SUSD2	22	24579586	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		24579586	26724980	48	18408											
CCDC157	550631	broad.mit.edu	37	22	30766543	30766543	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:30766543G>A	uc011aku.2	+	4	1309	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	CCDC157_uc011akv.2_Missense_Mutation_p.A217T	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	217										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CATTGAGACGGCCCTGGTGCC	0.622													A	30766543	G	A	30766543	3	1	262	1	0	0	0	0	1	0	0	0	2789	1203	42	3	659	3	CCDC157	22	30766543	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	6186957	30766543	20538023	49	18409											
GAL3ST1	9514	broad.mit.edu	37	22	30951178	30951178	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:30951178C>T	uc003aig.1	-	3	1174	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y	GAL3ST1_uc003aih.1_Missense_Mutation_p.C345Y|GAL3ST1_uc003aii.1_Missense_Mutation_p.C345Y|GAL3ST1_uc010gvz.1_Missense_Mutation_p.C345Y	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	345					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCCGTCGATGCAGATGGTCCG	0.711													T	30951178	C	T	30951178	3	4	262	1	0	0	0	0	1	0	0	0	6197	710	25	3	241	3	GAL3ST1	22	30951178	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	184635	30951178	20353388	50	18410											
GYG2	8908	broad.mit.edu	37	X	2799104	2799104	+	Silent	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:2799104C>T	uc004cqs.1	+	11	1638	c.1356C>T	c.(1354-1356)gcC>gcT	p.A452A	GYG2_uc004cqu.1_Silent_p.A420A|GYG2_uc004cqx.2_Silent_p.A381A|GYG2_uc004cqt.1_Silent_p.A421A|GYG2_uc004cqv.1_Silent_p.A195A|GYG2_uc004cqw.1_Silent_p.A412A|GYG2_uc010ndc.1_Silent_p.A230A	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	452					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				TCGACCTGGCCGTCTCTGTTT	0.542													T	2799104	C	T	2799104	2	4	262	1	0	0	0	0	0	0	0	1	6906	639	23	2		2	GYG2	23	2799104	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		2799104	152471456	51	18411											
ASB9	140462	broad.mit.edu	37	X	15266989	15266989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:15266989C>A	uc004cwl.3	-	5	934	c.637G>T	c.(637-639)Gag>Tag	p.E213*	ASB9_uc004cwm.3_Nonsense_Mutation_p.E203*|ASB9_uc004cwk.3_Nonsense_Mutation_p.E213*|ASB9_uc010ner.3_Nonsense_Mutation_p.E213*|ASB9_uc004cwn.2_Nonsense_Mutation_p.E184*	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.	213					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CAGGCCAGCTCTTCACTGGCT	0.567													A	15266989	C	A	15266989	4	1	262	1	0	0	0	0	0	1	0	0	1030	922	32	5	284	5	ASB9	23	15266989	Nonsense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	12467885	15266989	140003571	52	18412											
APEX2	27301	broad.mit.edu	37	X	55032975	55032975	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:55032975C>T	uc004dtz.3	+	5	740	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	APEX2_uc011mom.2_Missense_Mutation_p.R51C	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	222					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GGACCCAGGGCGCAAGTGGAT	0.522								Other BER factors					T	55032975	C	T	55032975	3	4	262	1	0	0	0	0	1	0	0	0	770	768	27	1	686	1	APEX2	23	55032975	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	39765986	55032975	100237585	53	18413											
ACRC	93953	broad.mit.edu	37	X	70830605	70830605	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:70830605G>A	uc004eae.2	+	10	2187	c.1686G>A	c.(1684-1686)atG>atA	p.M562I	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	562						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGTGAGATGTGGTACCCAA	0.502													A	70830605	G	A	70830605	3	1	262	1	0	0	0	0	1	0	0	0	171	1377	48	3	1724	3	ACRC	23	70830605	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	15797630	70830605	84439955	54	18414											
HCFC1	3054	broad.mit.edu	37	X	153236126	153236126	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:153236126C>G	uc004fjp.3	-	0	694	c.166G>C	c.(166-168)Gtg>Ctg	p.V56L	TMEM187_uc004fjq.2_5'Flank	NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	56					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCGTCCACTATTCCCTCG	0.657													G	153236126	C	G	153236126	3	3	262	1	0	0	0	0	1	0	0	0	6991	565	20	5	6045	5	HCFC1	23	153236126	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	82405521	153236126	2034434	55	18415											
MEGF6	1953	broad.mit.edu	37	1	3425698	3425698	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:3425698A>G	uc001akl.3	-	11	1696	c.1469T>C	c.(1468-1470)gTc>gCc	p.V490A	MEGF6_uc001akk.3_Missense_Mutation_p.V385A	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	490						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ATCGGCCCCGACGTCGTCATC	0.682													G	3425698	A	G	3425698	3	3	263	1	0	0	0	0	1	0	0	0	9462	275	10	4	3260	4	MEGF6	1	3425698	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08		3425698	245824923	1	18416											
SNX7	51375	broad.mit.edu	37	1	99203845	99203845	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:99203845C>T	uc010ouc.2	+	7	1230	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	SNX7_uc001dsa.3_Intron|SNX7_uc010oud.2_Missense_Mutation_p.A338V	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	329					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GCTAATAATGCCCTGAAAGCA	0.348													T	99203845	C	T	99203845	3	4	263	1	0	0	0	0	1	0	0	0	14907	739	26	3	1208	3	SNX7	1	99203845	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	95778147	99203845	150046776	2	18417											
AMPD2	271	broad.mit.edu	37	1	110172108	110172108	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:110172108C>T	uc009wfh.1	+	14	2562	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.R593C|AMPD2_uc001dyc.1_Missense_Mutation_p.R674C|AMPD2_uc010ovr.1_Missense_Mutation_p.R599C|AMPD2_uc001dyd.1_Missense_Mutation_p.R555C|AMPD2_uc001dye.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	674					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAACCACCTGCGCAGGTGCCT	0.602													T	110172108	C	T	110172108	3	4	263	1	0	0	0	0	1	0	0	0	586	768	27	1	2115	1	AMPD2	1	110172108	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	10968263	110172108	139078513	3	18418											
FLG	2312	broad.mit.edu	37	1	152281686	152281686	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:152281686G>A	uc001ezu.1	-	2	5712	c.5676C>T	c.(5674-5676)gcC>gcT	p.A1892A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1892	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A1892A(2)		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)			TAGAGCTGTCGGCCCGAGAGG	0.572									Ichthyosis				A	152281686	G	A	152281686	2	1	263	1	0	0	0	0	0	0	0	1	5922	1103	39	2		2	FLG	1	152281686	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	42109578	152281686	96968935	4	18419											
LELP1	149018	broad.mit.edu	37	1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:153177307C>T	uc001fbl.3	+	1	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	LELP1_uc021ozv.1_Missense_Mutation_p.R42C	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	42	Cys/Pro-rich.							p.R42C(4)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552													T	153177307	C	T	153177307	3	4	263	1	0	0	0	0	1	0	0	0	8718	536	19	1	126	1	LELP1	1	153177307	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	895621	153177307	96073314	5	18420											
NUP210L	91181	broad.mit.edu	37	1	154067448	154067448	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:154067448T>C	uc001fdw.3	-	14	2222	c.2150A>G	c.(2149-2151)tAc>tGc	p.Y717C	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.Y717C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	717						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCGGTAGATGTACTGGTTCTG	0.398													C	154067448	T	C	154067448	3	2	263	1	0	0	0	0	1	0	0	0	10761	1638	57	4	3620	4	NUP210L	1	154067448	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	890141	154067448	95183173	6	18421											
ANGEL2	90806	broad.mit.edu	37	1	213181756	213181756	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:213181756C>T	uc001hjz.3	-	2	593	c.438G>A	c.(436-438)acG>acA	p.T146T	ANGEL2_uc010pto.2_Silent_p.T20T|ANGEL2_uc010ptp.2_Silent_p.T20T|ANGEL2_uc001hka.3_5'UTR|ANGEL2_uc010ptq.2_Non-coding_Transcript|ANGEL2_uc001hkb.3_Silent_p.T124T	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	146										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTAGGATCTTCGTTTTTTCTT	0.323													T	213181756	C	T	213181756	2	4	263	1	0	0	0	0	0	0	0	1	609	871	31	2		2	ANGEL2	1	213181756	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	59114308	213181756	36068865	7	18422											
OBSCN	84033	broad.mit.edu	37	1	228557749	228557749	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:228557749G>A	uc009xez.1	+	90	20118	c.20074G>A	c.(20074-20076)Gaa>Aaa	p.E6692K	OBSCN_uc001hsr.1_Missense_Mutation_p.E1321K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6692	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.F6692F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACCTCAGCGAAGACGCCAA	0.667													A	228557749	G	A	228557749	3	1	263	1	0	0	0	0	1	0	0	0	10812	1059	37	2	21642	2	OBSCN	1	228557749	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	15375993	228557749	20692872	8	18423											
SIPA1L2	57568	broad.mit.edu	37	1	232649623	232649623	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:232649623C>T	uc001hvg.3	-	0	1621	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	488					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGAATTTGCGGTAATAATA	0.453													T	232649623	C	T	232649623	3	4	263	1	0	0	0	0	1	0	0	0	14330	768	27	1	3789	1	SIPA1L2	1	232649623	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	4091874	232649623	16600998	9	18424											
MFSD9	84804	broad.mit.edu	37	2	103335600	103335600	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:103335600C>T	uc002tcb.2	-	5	772	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.R174Q	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	235					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ATGGGTCTTTCGCAATGGCAG	0.567													T	103335600	C	T	103335600	3	4	263	1	0	0	0	0	1	0	0	0	9539	884	31	2	724	2	MFSD9	2	103335600	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		103335600	139863773	10	18425											
SLC5A7	60482	broad.mit.edu	37	2	108626880	108626880	+	Missense_Mutation	SNP	G	G	A	rs148535388	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:108626880G>A	uc002tdv.3	+	8	1582	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	SLC5A7_uc010ywm.2_Missense_Mutation_p.V189M|SLC5A7_uc010fjj.3_Missense_Mutation_p.V436M|SLC5A7_uc010ywn.2_Missense_Mutation_p.V323M	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	436					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTATGGGGCCGTGGCAGGTTA	0.488													A	108626880	G	A	108626880	3	1	263	1	0	0	0	0	1	0	0	0	14670	1145	40	1	1336	1	SLC5A7	2	108626880	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	5291280	108626880	134572493	11	18426											
ZRANB3	84083	broad.mit.edu	37	2	135958008	135958008	+	Silent	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:135958008T>C	uc002tum.3	-	20	3261	c.3144A>G	c.(3142-3144)agA>agG	p.R1048R	ZRANB3_uc002tuk.3_Silent_p.R591R|ZRANB3_uc002tul.3_Silent_p.R1046R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	1048						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCTGGCAGTTCTCTAAAAGT	0.363													C	135958008	T	C	135958008	2	2	263	1	0	0	0	0	0	0	0	1	18221	1780	62	4		4	ZRANB3	2	135958008	Silent	SNP	T	TCGA-76-4932-01A-01D-1486-08	27331128	135958008	107241365	12	18427											
CWC22	57703	broad.mit.edu	37	2	180810270	180810270	+	Silent	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:180810270A>G	uc010frh.1	-	19	2613	c.2313T>C	c.(2311-2313)aaT>aaC	p.N771N	CWC22_uc002uno.2_Silent_p.N293N|CWC22_uc002unp.2_Silent_p.N771N	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	771						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AACCACTTGAATTTTGATCTC	0.378													G	180810270	A	G	180810270	2	3	263	1	0	0	0	0	0	0	0	1	4068	98	4	4		4	CWC22	2	180810270	Silent	SNP	A	TCGA-76-4932-01A-01D-1486-08	44852262	180810270	62389103	13	18428											
FAM134A	79137	broad.mit.edu	37	2	220046109	220046109	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:220046109C>T	uc002vjw.4	+	6	939	c.803C>T	c.(802-804)gCa>gTa	p.A268V	FAM134A_uc010fwc.3_Missense_Mutation_p.A61V|FAM134A_uc002vjx.3_Missense_Mutation_p.A61V	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	268						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAAGAATGCACCCCCAGGA	0.547													T	220046109	C	T	220046109	3	4	263	1	0	0	0	0	1	0	0	0	5445	710	25	3	829	3	FAM134A	2	220046109	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	39235839	220046109	23153264	14	18429											
PAX3	5077	broad.mit.edu	37	2	223161799	223161799	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:223161799C>T	uc010fwo.3	-	1	600	c.219G>A	c.(217-219)tcG>tcA	p.S73S	PAX3_uc002vmt.2_Silent_p.S73S|PAX3_uc002vmy.2_Silent_p.S73S|PAX3_uc002vmv.2_Silent_p.S73S|PAX3_uc002vmw.2_Silent_p.S73S|PAX3_uc002vmx.2_Silent_p.S73S|PAX3_uc002vmz.2_Silent_p.S73S|PAX3_uc002vna.2_Silent_p.S73S|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	73	Paired.		S -> L (in WS1).		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		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)		GCAGCTGGCGCGAGATGACGC	0.647			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						T	223161799	C	T	223161799	2	4	263	1	0	0	0	0	0	0	0	1	11480	755	27	1		1	PAX3	2	223161799	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	3115690	223161799	20037574	15	18430											
COL4A4	1286	broad.mit.edu	37	2	227922184	227922184	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:227922184G>A	uc021vxr.1	-	27	2617	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	COL4A4_uc021vxs.1_Missense_Mutation_p.P839L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	839	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGGAGTCCCGGTTGCCCTGG	0.537													A	227922184	G	A	227922184	3	1	263	1	0	0	0	0	1	0	0	0	3693	1116	39	2	2636	2	COL4A4	2	227922184	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	4760385	227922184	15277189	16	18431											
CNTN4	152330	broad.mit.edu	37	3	2787313	2787313	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:2787313C>T	uc003bpc.3	+	5	629	c.290C>T	c.(289-291)aCg>aTg	p.T97M	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.T97M|CNTN4_uc003bpd.1_Missense_Mutation_p.T97M	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E96K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATGCTGGAACGTACCAGTGC	0.408													T	2787313	C	T	2787313	3	4	263	1	0	0	0	0	1	0	0	0	3643	536	19	1	300	1	CNTN4	3	2787313	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		2787313	195235117	17	18432											
CHST13	166012	broad.mit.edu	37	3	126260762	126260762	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:126260762G>A	uc003eja.3	+	2	412	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	123					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTGGAAGCGCGTGCTGCTGGC	0.716													A	126260762	G	A	126260762	3	1	263	1	0	0	0	0	1	0	0	0	3401	1145	40	1	377	1	CHST13	3	126260762	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	123473449	126260762	71761668	18	18433											
ECE2	9718	broad.mit.edu	37	3	184009860	184009860	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:184009860C>T	uc003fni.4	+	18	2524	c.2486C>T	c.(2485-2487)tCg>tTg	p.S829L	ECE2_uc003fnl.4_Missense_Mutation_p.S757L|ECE2_uc003fnm.4_Missense_Mutation_p.S711L|ECE2_uc003fnk.4_Missense_Mutation_p.S682L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	829	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTGGTGCTCGGTCCGCACA	0.647													T	184009860	C	T	184009860	3	4	263	1	0	0	0	0	1	0	0	0	4890	893	31	2	3124	2	ECE2	3	184009860	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	57749098	184009860	14012570	19	18434											
PDE6B	5158	broad.mit.edu	37	4	619767	619767	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:619767G>A	uc003gap.3	+	0	405	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	PDE6B_uc003gao.4_Missense_Mutation_p.V118I	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	118	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCCGGACAGCGTCCTGGAGGA	0.657													A	619767	G	A	619767	3	1	263	1	0	0	0	0	1	0	0	0	11646	1145	40	1	354	1	PDE6B	4	619767	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		619767	190534509	20	18435											
AASDH	132949	broad.mit.edu	37	4	57237647	57237647	+	Silent	SNP	G	G	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:57237647G>C	uc003hbn.3	-	4	984	c.831C>G	c.(829-831)ctC>ctG	p.L277L	AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Silent_p.L177L|AASDH_uc011caa.2_Silent_p.L124L|AASDH_uc011cab.2_5'UTR|AASDH_uc010ihc.3_Silent_p.L277L|AASDH_uc003hbp.3_Silent_p.L277L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	277					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GATGGGAAAAGAGAACGCTGG	0.353													C	57237647	G	C	57237647	2	2	263	1	0	0	0	0	0	0	0	1	22	929	33	5		5	AASDH	4	57237647	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	56617880	57237647	133916629	21	18436											
FRG1	2483	broad.mit.edu	37	4	190876274	190876274	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:190876274C>A	uc003izs.3	+	4	591	c.400C>A	c.(400-402)Cca>Aca	p.P134T		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	134					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGCAATTGGACCAAGAGAACA	0.358													A	190876274	C	A	190876274	3	1	263	1	0	0	0	0	1	0	0	0	6046	507	18	5	418	5	FRG1	4	190876274	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	133638627	190876274	278002	22	18437											
PRDM9	56979	broad.mit.edu	37	5	23527430	23527430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:23527430G>T	uc003jgo.3	+	10	2415	c.2233G>T	c.(2233-2235)Gag>Tag	p.E745*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	745					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			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						ACACACAGGGGAGAAGCCCTA	0.582										HNSCC(3;0.000094)			T	23527430	G	T	23527430	4	4	263	1	0	0	0	0	0	1	0	0	12463	1175	41	5	2271	5	PRDM9	5	23527430	Nonsense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		23527430	157387830	23	18438											
TNFAIP8	25816	broad.mit.edu	37	5	118728680	118728680	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:118728680G>T	uc003ksi.3	+	1	391	c.201G>T	c.(199-201)gaG>gaT	p.E67D	TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.3_Missense_Mutation_p.E57D|TNFAIP8_uc011cwf.2_Missense_Mutation_p.E61D	NM_014350	NP_055165	O95379	TFIP8_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8 (TNFAIP8), transcript variant 1, mRNA.	67					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		ACAAGAAGGAGGCAGAGAAGA	0.443													T	118728680	G	T	118728680	3	4	263	1	0	0	0	0	1	0	0	0	16273	991	35	5	212	5	TNFAIP8	5	118728680	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	95201250	118728680	62186580	24	18439											
PCDHAC2	56147	broad.mit.edu	37	5	140167119	140167119	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:140167119G>A	uc003lhb.2	+	0	1244	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	PCDHAC2_uc003lha.2_Missense_Mutation_p.R415H|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R415H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGATCGCGAGAGCCTG	0.637													A	140167119	G	A	140167119	3	1	263	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140167119	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	21438439	140167119	40748141	25	18440											
PCDHGC5	56113	broad.mit.edu	37	5	140719024	140719024	+	Silent	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:140719024A>G	uc003ljk.2	+	0	671	c.486A>G	c.(484-486)gtA>gtG	p.V162V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.V162V	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	162	Cadherin 2.				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)			ATGCAGACGTAGGTGAGAACG	0.522													G	140719024	A	G	140719024	2	3	263	1	0	0	0	0	0	0	0	1	11571	407	15	4		4	PCDHGC5	5	140719024	Silent	SNP	A	TCGA-76-4932-01A-01D-1486-08	551905	140719024	40196236	26	18441											
DEFB110	245913	broad.mit.edu	37	6	49976857	49976857	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:49976857G>A	uc011dwr.2	-	1	229	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 2, mRNA.	64					defense response to bacterium	extracellular region		p.C60C(1)		endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					GAGTTTATACGCAGCACTGAC	0.343													A	49976857	G	A	49976857	2	1	263	1	0	0	0	0	0	0	0	1	4400	1079	38	1		1	DEFB110	6	49976857	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08		49976857	121138210	27	18442											
KIAA1244	57221	broad.mit.edu	37	6	138599742	138599742	+	Silent	SNP	G	G	A	rs111857517	by1000genomes	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:138599742G>A	uc003qhu.3	+	12	2454	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	761	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGACCCTGGCGCCAGGCGTGA	0.612													A	138599742	G	A	138599742	2	1	263	1	0	0	0	0	0	0	0	1	8217	1074	38	1		1	KIAA1244	6	138599742	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	88622885	138599742	32515325	28	18443											
IGFBP3	3486	broad.mit.edu	37	7	45956872	45956872	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:45956872G>A	uc003tnr.3	-	1	720	c.588C>T	c.(586-588)taC>taT	p.Y196Y	IGFBP3_uc003tnq.3_Non-coding_Transcript|IGFBP3_uc003tns.3_Silent_p.Y190Y|IGFBP3_uc003tnt.3_Silent_p.Y93Y	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	Homo sapiens insulin-like growth factor binding protein 3 (IGFBP3), transcript variant 1, mRNA.	190	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TCTGAGACTCGTAGTCAACTT	0.502											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45956872	G	A	45956872	2	1	263	1	0	0	0	0	0	0	0	1	7580	1140	40	1		1	IGFBP3	7	45956872	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08		45956872	113181791	29	18444											
TFPI2	7980	broad.mit.edu	37	7	93519456	93519456	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:93519456C>T	uc003umy.1	-	1	339	c.264G>A	c.(262-264)agG>agA	p.R88R	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.R88R|TFPI2_uc003una.1_Silent_p.R77R	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	88					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.R88K(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TACTTTCTATCCTCCAGCAAG	0.617													T	93519456	C	T	93519456	2	4	263	1	0	0	0	0	0	0	0	1	15806	854	30	3		3	TFPI2	7	93519456	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	47562584	93519456	65619207	30	18445											
PEG10	23089	broad.mit.edu	37	7	94293373	94293373	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:94293373C>T	uc003uno.3	+	1	984	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	PEG10_uc011kie.2_Missense_Mutation_p.R245C|PEG10_uc022ahn.1_Missense_Mutation_p.R169C	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	169	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGTTGCCAAACGCAAGATCAG	0.537													T	94293373	C	T	94293373	3	4	263	1	0	0	0	0	1	0	0	0	11719	536	19	1	739	1	PEG10	7	94293373	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	773917	94293373	64845290	31	18446											
ZYX	7791	broad.mit.edu	37	7	143080252	143080252	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:143080252G>A	uc003wcx.3	+	4	1018	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ZYX_uc011ktd.2_Missense_Mutation_p.G130E|ZYX_uc003wcw.3_Missense_Mutation_p.G287E|ZYX_uc011kte.2_Missense_Mutation_p.G256E|ZYX_uc011ktf.2_Missense_Mutation_p.G130E	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	287					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GCCCCAGGTGGATCTGGGTCA	0.577													A	143080252	G	A	143080252	3	1	263	1	0	0	0	0	1	0	0	0	18251	1174	41	3	874	3	ZYX	7	143080252	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	48786879	143080252	16058411	32	18447											
EPHA1	2041	broad.mit.edu	37	7	143095154	143095154	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:143095154G>A	uc003wcz.3	-	7	1561	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	492	Fibronectin type-III 2.		R -> Q (in dbSNP:rs11768549).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.R492W(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATCTGGTACCGTTCTTCATCC	0.572													A	143095154	G	A	143095154	3	1	263	1	0	0	0	0	1	0	0	0	5165	1144	40	1	1500	1	EPHA1	7	143095154	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	14902	143095154	16043509	33	18448											
ASB10	136371	broad.mit.edu	37	7	150878355	150878355	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:150878355G>A	uc003wjm.1	-	2	1036	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	ASB10_uc003wjl.1_Missense_Mutation_p.R259C|ASB10_uc003wjn.1_Missense_Mutation_p.R244C	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	259					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACTGGCAGCGGACGTCACAG	0.647													A	150878355	G	A	150878355	3	1	263	1	0	0	0	0	1	0	0	0	1014	1116	39	2	640	2	ASB10	7	150878355	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	7783201	150878355	8260308	34	18449											
DOCK5	80005	broad.mit.edu	37	8	25250313	25250313	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr8:25250313C>T	uc003xeg.3	+	44	4578	c.4441_splice	c.e44-1	p.T1481_splice	DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_Splice_Site_p.T1051_splice|DOCK5_uc003xej.3_Splice_Site	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1481	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGCCACCAGACGATGTGGATT	0.428													T	25250313	C	T	25250313	3	4	263	1	0	0	0	0	1	0	0	0	4690	550	19	1	4616	1	DOCK5	8	25250313	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		25250313	121113709	35	18450											
CPSF1	29894	broad.mit.edu	37	8	145622709	145622709	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr8:145622709G>A	uc003zcj.3	-	21	2453	c.2378C>T	c.(2377-2379)aCc>aTc	p.T793I		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	793					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TACCTCCATGGTGCCATTCTC	0.672													A	145622709	G	A	145622709	3	1	263	1	0	0	0	0	1	0	0	0	3824	1261	44	3	2021	3	CPSF1	8	145622709	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	120372396	145622709	741313	36	18451											
NPR2	4882	broad.mit.edu	37	9	35808664	35808664	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr9:35808664C>T	uc003zyd.3	+	18	2871	c.2871C>T	c.(2869-2871)cgC>cgT	p.R957R	NPR2_uc010mlb.3_Silent_p.R933R|SPAG8_uc003zye.3_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	957	Guanylate cyclase.		R -> C (in AMDM).		intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGAGGCTACGCATAGGGGTCC	0.542													T	35808664	C	T	35808664	2	4	263	1	0	0	0	0	0	0	0	1	10595	697	25	3		3	NPR2	9	35808664	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08		35808664	105404767	37	18452											
OR4C16	219428	broad.mit.edu	37	11	55340484	55340484	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:55340484G>A	uc010rih.2	+	0	881	c.881G>A	c.(880-882)aGt>aAt	p.S294N		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				GAAGTGAAAAGTGCCATGAGG	0.368													A	55340484	G	A	55340484	3	1	263	1	0	0	0	0	1	0	0	0	11049	1029	36	3	883	3	OR4C16	11	55340484	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		55340484	79666032	38	18453											
OR8H1	219469	broad.mit.edu	37	11	56058035	56058035	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:56058035G>A	uc010rje.2	-	0	504	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CATTTGAGTCGCAGAAATGCA	0.433													A	56058035	G	A	56058035	2	1	263	1	0	0	0	0	0	0	0	1	11237	1079	38	1		1	OR8H1	11	56058035	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	717551	56058035	78948481	39	18454											
OSBP	5007	broad.mit.edu	37	11	59368009	59368009	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:59368009T>C	uc001noc.1	-	6	1751	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R	OSBP_uc009ymr.1_Non-coding_Transcript	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	424	Sterol binding (By similarity).				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATGCAGTTCTTCATGATGCT	0.468													C	59368009	T	C	59368009	3	2	263	1	0	0	0	0	1	0	0	0	11273	1609	56	4	1184	4	OSBP	11	59368009	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	3309974	59368009	75638507	40	18455											
ACTN3	89	broad.mit.edu	37	11	66328735	66328737	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:66328735_66328737delAGG	uc021qma.1	+	5	665_667	c.152_154delAGG	c.(151-156)caggag>cag	p.E53del	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	635	Actin-binding.|CH 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAGACACTGCAGGAGGAGCTGGC	0.621													-	66328737	AGG	-	66328735	7	5	263	1	0	1	0	1	0	0	0	0	206	188	7	0	1960	0	ACTN3	11	66328735	In_Frame_Del	DEL	AGG	TCGA-76-4932-01A-01D-1486-08	6960726	66328735	68677781	41	18456											
NAALAD2	10003	broad.mit.edu	37	11	89882229	89882229	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:89882229A>G	uc001pdf.4	+	3	546	c.437A>G	c.(436-438)aAt>aGt	p.N146S	NAALAD2_uc009yvx.3_Missense_Mutation_p.N146S|NAALAD2_uc009yvy.3_Missense_Mutation_p.N146S|NAALAD2_uc001pdd.2_Missense_Mutation_p.N146S|NAALAD2_uc001pde.3_Missense_Mutation_p.N146S	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	146					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AATGTTACAAATATTGTGCCA	0.328													G	89882229	A	G	89882229	3	3	263	1	0	0	0	0	1	0	0	0	10128	101	4	4	451	4	NAALAD2	11	89882229	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	23553494	89882229	45124287	42	18457											
CLSTN3	9746	broad.mit.edu	37	12	7310162	7310162	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:7310162C>T	uc001qss.3	+	15	3179	c.2641C>T	c.(2641-2643)Cgc>Tgc	p.R881C	CLSTN3_uc001qsr.3_Missense_Mutation_p.R869C|CLSTN3_uc001qst.3_Missense_Mutation_p.R277C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	869					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGGCCTGGTGCGCATCCATTC	0.657													T	7310162	C	T	7310162	3	4	263	1	0	0	0	0	1	0	0	0	3563	768	27	1	2671	1	CLSTN3	12	7310162	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		7310162	126541733	43	18458											
PPFIBP1	8496	broad.mit.edu	37	12	27841316	27841316	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:27841316C>T	uc001ric.2	+	24	2851	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A656V|PPFIBP1_uc001rib.2_Missense_Mutation_p.A819V|PPFIBP1_uc001ria.3_Missense_Mutation_p.A794V|PPFIBP1_uc001rid.2_Missense_Mutation_p.A672V|PPFIBP1_uc001rif.2_Missense_Mutation_p.A332V|TRNA_Lys_uc021qwh.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	825	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCAGAATATGCGCCCAATCTC	0.473													T	27841316	C	T	27841316	3	4	263	1	0	0	0	0	1	0	0	0	12313	768	27	1	2592	1	PPFIBP1	12	27841316	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	20531154	27841316	106010579	44	18459											
SLC38A4	55089	broad.mit.edu	37	12	47163175	47163175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:47163175G>A	uc001rpi.2	-	14	1735	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	SLC38A4_uc001rpj.2_Nonsense_Mutation_p.R446*	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	446					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTGAAGGGTCGTTTGGGAAAT	0.363													A	47163175	G	A	47163175	4	1	263	1	0	0	0	0	0	1	0	0	14606	1153	40	1	319	1	SLC38A4	12	47163175	Nonsense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	19321859	47163175	86688720	45	18460											
DNAJC22	79962	broad.mit.edu	37	12	49745175	49745175	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:49745175C>T	uc001rua.3	+	2	1317	c.916C>T	c.(916-918)Cca>Tca	p.P306S	DNAJC22_uc001rub.3_Missense_Mutation_p.P306S	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.	306	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGTCTGGCACCCAGACCACAA	0.522													T	49745175	C	T	49745175	3	4	263	1	0	0	0	0	1	0	0	0	4641	623	22	3	922	3	DNAJC22	12	49745175	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	2582000	49745175	84106720	46	18461											
TARBP2	6895	broad.mit.edu	37	12	53895818	53895818	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:53895818G>A	uc001sdo.3	+	1	561	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	MAP3K12_uc001sdm.2_5'Flank|MAP3K12_uc001sdn.2_5'Flank|TARBP2_uc009znb.3_Missense_Mutation_p.A25T|TARBP2_uc001sdp.3_Missense_Mutation_p.A4T|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Missense_Mutation_p.A4T	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	25	Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						AATGCTGGCCGCCAACCCAGG	0.592													A	53895818	G	A	53895818	3	1	263	1	0	0	0	0	1	0	0	0	15553	1087	38	1	79	1	TARBP2	12	53895818	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	4150643	53895818	79956077	47	18462											
CCDC63	160762	broad.mit.edu	37	12	111322003	111322003	+	Silent	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:111322003G>A	uc001trv.1	+	7	1218	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	CCDC63_uc010sye.1_Silent_p.T301T|CCDC63_uc001trw.1_Silent_p.T256T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	341										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CGTATGTCACGGAGCTCAACA	0.552													A	111322003	G	A	111322003	2	1	263	1	0	0	0	0	0	0	0	1	2834	1103	39	2		2	CCDC63	12	111322003	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	57426185	111322003	22529892	48	18463											
OASL	8638	broad.mit.edu	37	12	121469372	121469372	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:121469372A>G	uc001tzj.1	-	2	536	c.530T>C	c.(529-531)cTg>cCg	p.L177P	OASL_uc001tzk.1_Missense_Mutation_p.L177P	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	177					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTTGATCAGGCTCACATA	0.552													G	121469372	A	G	121469372	3	3	263	1	0	0	0	0	1	0	0	0	10802	188	7	4	1030	4	OASL	12	121469372	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	10147369	121469372	12382523	49	18464											
RIMBP2	23504	broad.mit.edu	37	12	130934752	130934752	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:130934752G>A	uc001uil.2	-	5	739	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RIMBP2_uc001uim.3_Missense_Mutation_p.R83C	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	175	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACCTATAGCGGGCAACACAG	0.552													A	130934752	G	A	130934752	3	1	263	1	0	0	0	0	1	0	0	0	13363	1116	39	2	2691	2	RIMBP2	12	130934752	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	9465380	130934752	2917143	50	18465											
USPL1	10208	broad.mit.edu	37	13	31232152	31232152	+	Silent	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr13:31232152A>G	uc001utc.2	+	8	2370	c.1938A>G	c.(1936-1938)caA>caG	p.Q646Q	USPL1_uc001utd.2_Silent_p.Q317Q|USPL1_uc001ute.1_Silent_p.Q317Q	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	646					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGCTTATTCAAGACCAATTTG	0.343													G	31232152	A	G	31232152	2	3	263	1	0	0	0	0	0	0	0	1	17089	69	3	4		4	USPL1	13	31232152	Silent	SNP	A	TCGA-76-4932-01A-01D-1486-08		31232152	83937726	51	18466											
THSD1	55901	broad.mit.edu	37	13	52951899	52951899	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr13:52951899T>C	uc001vgo.3	-	4	2751	c.2206A>G	c.(2206-2208)Agg>Ggg	p.R736G	THSD1_uc001vgp.3_Missense_Mutation_p.R683G|THSD1_uc010tgz.2_Missense_Mutation_p.R357G	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	736						extracellular region|integral to membrane|intracellular membrane-bounded organelle				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)		TCTGGTTTCCTCAAGGGCTGC	0.552													C	52951899	T	C	52951899	3	2	263	1	0	0	0	0	1	0	0	0	15874	1550	54	4	356	4	THSD1	13	52951899	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	21719747	52951899	62217979	52	18467											
EDDM3A	10876	broad.mit.edu	37	14	21216002	21216002	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr14:21216002G>A	uc021rom.1	+	0	263	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	EDDM3A_uc001vyc.3_Missense_Mutation_p.R88Q	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	88					sperm displacement	extracellular space		p.R88Q(2)|p.R88R(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGAGCGACCGATATAGAAAT	0.453													A	21216002	G	A	21216002	3	1	263	1	0	0	0	0	1	0	0	0	4909	1058	37	2	265	2	EDDM3A	14	21216002	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		21216002	86133538	53	18468											
MKRN3	7681	broad.mit.edu	37	15	23811039	23811039	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:23811039C>A	uc001ywh.4	+	0	586	c.110C>A	c.(109-111)cCc>cAc	p.P37H	MKRN3_uc001ywi.3_Missense_Mutation_p.P37H|MKRN3_uc010ayi.1_Missense_Mutation_p.P37H	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	37						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTCTGTGAGCCCTCCGGGGAA	0.687													A	23811039	C	A	23811039	3	1	263	1	0	0	0	0	1	0	0	0	9608	623	22	5	112	5	MKRN3	15	23811039	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		23811039	78720353	54	18469											
TMOD2	29767	broad.mit.edu	37	15	52075020	52075020	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:52075020G>C	uc002abk.3	+	6	948	c.727G>C	c.(727-729)Gcc>Ccc	p.A243P	TMOD2_uc002abl.4_Intron|TMOD2_uc010bfb.3_Missense_Mutation_p.A199P	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	Homo sapiens tropomodulin 2 (neuronal) (TMOD2), transcript variant 1, mRNA.	243					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TGACCCTGTGGCCATTGTGAG	0.398													C	52075020	G	C	52075020	3	2	263	1	0	0	0	0	1	0	0	0	16231	1203	42	5	749	5	TMOD2	15	52075020	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	28263981	52075020	50456372	55	18470											
FSD2	123722	broad.mit.edu	37	15	83455346	83455346	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:83455346T>C	uc002bjd.2	-	2	819	c.652A>G	c.(652-654)Aaa>Gaa	p.K218E	FSD2_uc010uol.1_Missense_Mutation_p.K218E|FSD2_uc010uom.1_Missense_Mutation_p.K218E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	218										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TACATGTTTTTGTGAATTTCA	0.363													C	83455346	T	C	83455346	3	2	263	1	0	0	0	0	1	0	0	0	6071	1821	63	4	1641	4	FSD2	15	83455346	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	31380326	83455346	19076046	56	18471											
PDE8A	5151	broad.mit.edu	37	15	85664158	85664158	+	Missense_Mutation	SNP	C	C	G	rs144501404	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:85664158C>G	uc002blh.3	+	17	2054	c.1865C>G	c.(1864-1866)aCt>aGt	p.T622S	PDE8A_uc021stv.1_Missense_Mutation_p.T550S|PDE8A_uc002bli.3_Missense_Mutation_p.T576S|PDE8A_uc010bnc.3_Missense_Mutation_p.T375S|PDE8A_uc010bnd.3_Missense_Mutation_p.T375S|PDE8A_uc002blj.3_Missense_Mutation_p.T242S|PDE8A_uc002blk.3_Missense_Mutation_p.T242S|PDE8A_uc002bll.3_5'UTR	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	622	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TACAATGACACTGCTGTGCTG	0.483													G	85664158	C	G	85664158	3	3	263	1	0	0	0	0	1	0	0	0	11653	565	20	5	1935	5	PDE8A	15	85664158	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	2208812	85664158	16867234	57	18472											
PCSK6	5046	broad.mit.edu	37	15	101853660	101853660	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:101853660C>T	uc002bxa.2	-	20	2931	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	PCSK6_uc010bpd.3_Missense_Mutation_p.D670N|PCSK6_uc002bwy.3_Missense_Mutation_p.D873N|PCSK6_uc010bpe.3_Missense_Mutation_p.D857N|PCSK6_uc002bxb.2_Missense_Mutation_p.D860N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	874	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACTTCCAGTCGTGGAAGTGG	0.567													T	101853660	C	T	101853660	3	4	263	1	0	0	0	0	1	0	0	0	11604	884	31	2	530	2	PCSK6	15	101853660	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	16189502	101853660	677732	58	18473											
SRCAP	10847	broad.mit.edu	37	16	30748891	30748894	+	Frame_Shift_Del	DEL	TCAT	TCAT	-			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:30748891_30748894delTCAT	uc002dze.1	+	33	7915_7918	c.7530_7533delTCAT	c.(7528-7533)gctcatfs	p.A2510fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A2305fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2510	Pro-rich.				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			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)			ctccaccagctcatacaccgcctc	0.564													-	30748894	TCAT	-	30748891	7	5	263	1	0	1	0	1	0	0	0	0	15134	1538	54	0	7656	0	SRCAP	16	30748891	Frame_Shift_Del	DEL	TCAT	TCGA-76-4932-01A-01D-1486-08		30748891	59605862	59	18474											
CNTNAP4	85445	broad.mit.edu	37	16	76461484	76461484	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:76461484G>A	uc002fex.1	+	2	674	c.535G>A	c.(535-537)Gga>Aga	p.G179R	CNTNAP4_uc002feu.1_Missense_Mutation_p.G175R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G88R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G151R|CNTNAP4_uc002few.2_Missense_Mutation_p.G151R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	176					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGAAGTGTTCGGATGTGCATA	0.398													A	76461484	G	A	76461484	3	1	263	1	0	0	0	0	1	0	0	0	3649	1117	39	2	553	2	CNTNAP4	16	76461484	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	45712593	76461484	13893269	60	18475											
ADAMTS18	170692	broad.mit.edu	37	16	77389861	77389861	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:77389861C>T	uc002ffc.4	-	8	1855	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	479	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R479H(2)		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						GAGATACTGGCGGCTGCAGGA	0.488													T	77389861	C	T	77389861	3	4	263	1	0	0	0	0	1	0	0	0	263	768	27	1	2289	1	ADAMTS18	16	77389861	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	928377	77389861	12964892	61	18476											
KRT38	8687	broad.mit.edu	37	17	39593695	39593695	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr17:39593695C>T	uc002hwq.1	-	6	1763	c.1340G>A	c.(1339-1341)tGt>tAt	p.C447Y		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	447	Tail.					intermediate filament	structural molecule activity	p.C447S(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)				GCTGGCTCCACAGGTGGGCCC	0.612													T	39593695	C	T	39593695	3	4	263	1	0	0	0	0	1	0	0	0	8475	478	17	3	34	3	KRT38	17	39593695	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		39593695	41601515	62	18477											
DNM2	1785	broad.mit.edu	37	19	10887808	10887808	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:10887808G>A	uc002mpt.2	+	4	794	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.G202S|DNM2_uc010dxl.2_Missense_Mutation_p.G202S|DNM2_uc002mpu.2_Missense_Mutation_p.G202S|DNM2_uc002mpv.2_Missense_Mutation_p.G202S	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	202					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACGGACCATCGGTGTCATCAC	0.597			"F, N, Splice, Mis, O"		ETP ALL								A	10887808	G	A	10887808	3	1	263	1	0	0	0	0	1	0	0	0	4672	1116	39	2	622	2	DNM2	19	10887808	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		10887808	48241175	63	18478											
CILP2	148113	broad.mit.edu	37	19	19654993	19654993	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:19654993G>A	uc002nmw.4	+	7	1742	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	CILP2_uc002nmv.4_Missense_Mutation_p.V547M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	547						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGTGCCGGCGTGTACCACGA	0.622													A	19654993	G	A	19654993	3	1	263	1	0	0	0	0	1	0	0	0	3430	1145	40	1	1669	1	CILP2	19	19654993	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	8767185	19654993	39473990	64	18479											
ZNF701	55762	broad.mit.edu	37	19	53085986	53085986	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:53085986A>G	uc010ydn.2	+	4	935	c.872A>G	c.(871-873)aAt>aGt	p.N291S	ZNF701_uc002pzs.2_Missense_Mutation_p.N225S|ZNF701_uc021uyw.1_Missense_Mutation_p.N291S	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAAGCCTTTAATGGTAGCTCA	0.368													G	53085986	A	G	53085986	3	3	263	1	0	0	0	0	1	0	0	0	18102	101	4	4	886	4	ZNF701	19	53085986	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	33430993	53085986	6042997	65	18480											
LILRB2	10288	broad.mit.edu	37	19	54782295	54782295	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:54782295C>T	uc002qfb.3	-	6	1343	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.A359A|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.A359A|LILRB2_uc010yet.2_Silent_p.A243A|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	359	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCTGCTCCCGCCTTGGTCA	0.572													T	54782295	C	T	54782295	2	4	263	1	0	0	0	0	0	0	0	1	8791	639	23	2		2	LILRB2	19	54782295	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	1696309	54782295	4346688	66	18481											
ZSCAN18	65982	broad.mit.edu	37	19	58601319	58601319	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:58601319G>A	uc010yht.1	-	1	514	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R106W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R106W|ZSCAN18_uc002qri.2_Missense_Mutation_p.R106W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R106W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R106W	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	106					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACCCAGGGCCGGACCTTATCA	0.647													A	58601319	G	A	58601319	3	1	263	1	0	0	0	0	1	0	0	0	18227	1115	39	2	1240	2	ZSCAN18	19	58601319	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	3819024	58601319	527664	67	18482											
MATN4	8785	broad.mit.edu	37	20	43933173	43933173	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:43933173G>A	uc002xnn.2	-	2	525	c.338C>T	c.(337-339)aCg>aTg	p.T113M	MATN4_uc002xnp.2_Missense_Mutation_p.T113M|MATN4_uc002xno.2_Missense_Mutation_p.T113M|MATN4_uc010zwr.1_Missense_Mutation_p.T61M|MATN4_uc002xnr.1_Missense_Mutation_p.T113M|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	113	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGCCAGTCCCGTCATGGTGCC	0.667													A	43933173	G	A	43933173	3	1	263	1	0	0	0	0	1	0	0	0	9336	1145	40	1	1439	1	MATN4	20	43933173	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		43933173	19092347	68	18483											
MC3R	4159	broad.mit.edu	37	20	54824649	54824649	+	Silent	SNP	G	G	C	rs139424256		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:54824649G>C	uc002xxb.2	+	0	862	c.750G>C	c.(748-750)gtG>gtC	p.V250V		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	287					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			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCCTGGGCGTGTTCATCTTCT	0.597													C	54824649	G	C	54824649	2	2	263	1	0	0	0	0	0	0	0	1	9365	1364	48	5		5	MC3R	20	54824649	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	10891476	54824649	8200871	69	18484											
C20orf43	51507	broad.mit.edu	37	20	55093243	55093243	+	Silent	SNP	C	C	G			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:55093243C>G	uc010zzf.1	+	9	1040	c.933C>G	c.(931-933)ctC>ctG	p.L311L	C20orf43_uc002xxt.2_Silent_p.L281L|C20orf43_uc002xxu.2_Silent_p.L280L|GCNT7_uc010zzg.1_Intron	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	Homo sapiens chromosome 20 open reading frame 43 (C20orf43), mRNA.	281										breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	10			Colorectal(105;0.202)			ACAAGTCCCTCTTTACCACTC	0.577													G	55093243	C	G	55093243	2	3	263	1	0	0	0	0	0	0	0	1	2112	900	32	5		5	C20orf43	20	55093243	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	268594	55093243	7932277	70	18485											
IFNAR2	3455	broad.mit.edu	37	21	34625094	34625094	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:34625094C>T	uc002yrd.3	+	6	996	c.668C>T	c.(667-669)tCt>tTt	p.S223F	IFNAR2_uc002yrb.3_Missense_Mutation_p.S223F|IFNAR2_uc002yrc.3_Missense_Mutation_p.S223F|IFNAR2_uc002yre.3_Missense_Mutation_p.S223F|IFNAR2_uc002yrf.3_Missense_Mutation_p.S223F|IFNAR2_uc002yri.1_5'UTR|IFNAR2_uc002yrh.1_Missense_Mutation_p.S73F	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	223					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GTAATAAAGTCTCCCTTAAAA	0.373													T	34625094	C	T	34625094	3	4	263	1	0	0	0	0	1	0	0	0	7545	913	32	3	690	3	IFNAR2	21	34625094	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		34625094	13504801	71	18486											
TRPM2	7226	broad.mit.edu	37	21	45859043	45859043	+	Missense_Mutation	SNP	G	G	A	rs142254503	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:45859043G>A	uc010gpt.1	+	30	4511	c.4411G>A	c.(4411-4413)Ggc>Agc	p.G1471S	TRPM2_uc002zet.1_Missense_Mutation_p.G1421S|TRPM2_uc002zeu.1_Missense_Mutation_p.G1421S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G1421S|TRPM2_uc002zex.1_Missense_Mutation_p.G1207S|TRPM2_uc002zey.1_Missense_Mutation_p.G900S|TRPM2_uc011aff.1_Missense_Mutation_p.G102S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1421	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGAAGTGCGGCATGGAGGT	0.602													A	45859043	G	A	45859043	3	1	263	1	0	0	0	0	1	0	0	0	16583	1116	39	2	4379	2	TRPM2	21	45859043	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	11233949	45859043	2270852	72	18487											
ZNF280B	140883	broad.mit.edu	37	22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr22:22842526C>T	uc002zwc.1	-	3	1974	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G399G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433													T	22842526	C	T	22842526	3	4	263	1	0	0	0	0	1	0	0	0	17812	893	31	2	437	2	ZNF280B	22	22842526	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		22842526	28462040	73	18488											
MOV10L1	54456	broad.mit.edu	37	22	50596602	50596602	+	Silent	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr22:50596602C>T	uc003bjj.3	+	22	3266	c.3183C>T	c.(3181-3183)agC>agT	p.S1061S	MOV10L1_uc003bjk.4_Silent_p.S1061S|MOV10L1_uc011arp.2_Silent_p.S1041S|MOV10L1_uc003bjl.3_Silent_p.S188S|MOV10L1_uc003bjm.1_Silent_p.S104S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1061					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTCTGCCAGCGACATTGGCG	0.652													T	50596602	C	T	50596602	2	4	263	1	0	0	0	0	0	0	0	1	9719	767	27	1		1	MOV10L1	22	50596602	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	27754076	50596602	707964	74	18489											
GLRA2	2742	broad.mit.edu	37	X	14599498	14599498	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:14599498C>T	uc010neq.3	+	3	1224	c.464C>T	c.(463-465)tCg>tTg	p.S155L	GLRA2_uc004cwe.4_Missense_Mutation_p.S155L|GLRA2_uc011mio.2_Missense_Mutation_p.S66L|GLRA2_uc010nep.3_Missense_Mutation_p.S155L|GLRA2_uc011mip.2_Missense_Mutation_p.S133L	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	155					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.S155L(3)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTACGGATTTCGAAAAATGGC	0.453													T	14599498	C	T	14599498	3	4	263	1	0	0	0	0	1	0	0	0	6455	893	31	2	550	2	GLRA2	23	14599498	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		14599498	140671062	75	18490											
LANCL3	347404	broad.mit.edu	37	X	37431325	37431325	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:37431325G>A	uc011mkd.2	+	0	504	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	LANCL3_uc004ddp.2_Missense_Mutation_p.G68S	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.	68							catalytic activity			lung(4)|pancreas(1)	5						GCTTTATGGCGGCGTGGCCGG	0.711													A	37431325	G	A	37431325	3	1	263	1	0	0	0	0	1	0	0	0	8622	1116	39	2	204	2	LANCL3	23	37431325	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	22831827	37431325	117839235	76	18491											
MORC4	79710	broad.mit.edu	37	X	106221358	106221358	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:106221358A>T	uc004emu.4	-	7	1283	c.1008T>A	c.(1006-1008)caT>caA	p.H336Q	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.H336Q|MORC4_uc004emw.4_Missense_Mutation_p.H84Q	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	336							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTCGGTTGTTATGATACATCA	0.393													T	106221358	A	T	106221358	3	4	263	1	0	0	0	0	1	0	0	0	9704	446	16	5	1845	5	MORC4	23	106221358	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	68790033	106221358	49049202	77	18492											
THOC2	57187	broad.mit.edu	37	X	122756613	122756613	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:122756613T>A	uc004etu.3	-	29	3813	c.3781A>T	c.(3781-3783)Aac>Tac	p.N1261Y	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.N82Y	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1261					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCTACCTGTTAGAGCCACTA	0.373													A	122756613	T	A	122756613	3	1	263	1	0	0	0	0	1	0	0	0	15862	1754	61	5	1036	5	THOC2	23	122756613	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	16535255	122756613	32513947	78	18493											
LEPRE1	64175	broad.mit.edu	37	1	43215947	43215947	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:43215947T>C	uc001chx.4	-	10	1743	c.1630A>G	c.(1630-1632)Aag>Gag	p.K544E	LEPRE1_uc001chw.2_Missense_Mutation_p.K544E|LEPRE1_uc001chv.2_Missense_Mutation_p.K544E	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	544					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	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-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGCCGCACCTTCTCCGTCACG	0.577													C	43215947	T	C	43215947	3	2	264	1	0	0	0	0	1	0	0	0	8729	1792	62	4	619	4	LEPRE1	1	43215947	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08		43215947	206034674	1	18494											
NEXN	91624	broad.mit.edu	37	1	78401572	78401572	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:78401572G>T	uc001dic.4	+	10	1613	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	NEXN_uc001dia.3_Missense_Mutation_p.R425M|NEXN_uc009wcb.1_Missense_Mutation_p.R361M|NEXN_uc001dib.4_Missense_Mutation_p.R375M|NEXN_uc001did.1_Missense_Mutation_p.R349M|NEXN_uc001dif.1_Missense_Mutation_p.R331M|NEXN_uc001dig.4_Missense_Mutation_p.R80M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	439	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAAAAAGGAGTGGCTCT	0.313													T	78401572	G	T	78401572	3	4	264	1	0	0	0	0	1	0	0	0	10355	1000	35	5	1354	5	NEXN	1	78401572	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	35185625	78401572	170849049	2	18495											
LPAR3	23566	broad.mit.edu	37	1	85331314	85331314	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:85331314T>C	uc001dkl.2	-	0	529	c.490A>G	c.(490-492)Aca>Gca	p.T164A	LPAR3_uc009wcj.1_Missense_Mutation_p.T164A	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	164					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGCCCAGTGTGGGGACCGCC	0.527													C	85331314	T	C	85331314	3	2	264	1	0	0	0	0	1	0	0	0	8906	1696	59	4	579	4	LPAR3	1	85331314	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08	6929742	85331314	163919307	3	18496											
TDRD10	126668	broad.mit.edu	37	1	154493902	154493902	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:154493902delA	uc009wow.3	+	5	1154	c.316delA	c.(316-318)aaafs	p.K106fs	TDRD10_uc001ffd.3_Frame_Shift_Del_p.K106fs|TDRD10_uc001ffe.3_Frame_Shift_Del_p.K27fs	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	106	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAATACAAGCAAAAGGCCCCC	0.517													-	154493902	A	-	154493902	7	5	264	1	0	1	0	1	0	0	0	0	15728	131	5	0	334	0	TDRD10	1	154493902	Frame_Shift_Del	DEL	A	TCGA-76-4934-01A-01D-1486-08	69162588	154493902	94756719	4	18497											
MAP4K3	8491	broad.mit.edu	37	2	39515367	39515367	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:39515367C>A	uc002rro.3	-	19	1460	c.1369G>T	c.(1369-1371)Gga>Tga	p.G457*	MAP4K3_uc002rrp.3_Nonsense_Mutation_p.G436*|MAP4K3_uc010yns.2_Nonsense_Mutation_p.G10*	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	457					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTGATTGTTCCTTGATTTTCA	0.428													A	39515367	C	A	39515367	4	1	264	1	0	0	0	0	0	1	0	0	9261	690	24	5	1375	5	MAP4K3	2	39515367	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		39515367	203684006	5	18498											
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809103	48809103	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:48809103G>T	uc002rwp.2	+	1	1445	c.1331G>T	c.(1330-1332)tGc>tTc	p.C444F	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.C444F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	444					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAATTTATTGCCTCTGCTTT	0.383													T	48809103	G	T	48809103	3	4	264	1	0	0	0	0	1	0	0	0	15316	1319	46	5	1333	5	STON1-GTF2A1L	2	48809103	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	9293736	48809103	194390270	6	18499											
CCDC85A	114800	broad.mit.edu	37	2	56420085	56420085	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:56420085G>C	uc002rzn.3	+	1	1252	c.750G>C	c.(748-750)aaG>aaC	p.K250N	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	250	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCACTCCAAGCACAGGAGCG	0.662													C	56420085	G	C	56420085	3	2	264	1	0	0	0	0	1	0	0	0	2859	962	34	5	756	5	CCDC85A	2	56420085	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	7610982	56420085	186779288	7	18500											
GLI2	2736	broad.mit.edu	37	2	121726342	121726342	+	Silent	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:121726342G>A	uc010flp.3	+	4	726	c.696G>A	c.(694-696)gcG>gcA	p.A232A	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.A103T|GLI2_uc010flo.1_Silent_p.A107A|GLI2_uc002tmw.1_Silent_p.A232A	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	232					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCAAGCGGGCGCTGTCCATCT	0.632													A	121726342	G	A	121726342	2	1	264	1	0	0	0	0	0	0	0	1	6438	1074	38	1		1	GLI2	2	121726342	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	65306257	121726342	121473031	8	18501											
ZDBF2	57683	broad.mit.edu	37	2	207173022	207173022	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:207173022C>A	uc002vbp.2	+	4	4020	c.3770C>A	c.(3769-3771)cCt>cAt	p.P1257H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1257							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCTGGCCAACCTGAAGAAGTA	0.383													A	207173022	C	A	207173022	3	1	264	1	0	0	0	0	1	0	0	0	17596	681	24	5	3780	5	ZDBF2	2	207173022	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	85446680	207173022	36026351	9	18502											
PRKAG3	53632	broad.mit.edu	37	2	219691740	219691740	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:219691740G>A	uc002vjb.1	-	9	1098	c.1079C>T	c.(1078-1080)gCt>gTt	p.A360V	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.L402L	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	360	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCACAGCCAAGTCTCG	0.602													A	219691740	G	A	219691740	3	1	264	1	0	0	0	0	1	0	0	0	12502	971	34	3	406	3	PRKAG3	2	219691740	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	12518718	219691740	23507633	10	18503											
PASK	23178	broad.mit.edu	37	2	242065780	242065780	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:242065780C>T	uc002wao.2	-	9	2683	c.2550G>A	c.(2548-2550)acG>acA	p.T850T	PASK_uc010zol.2_Silent_p.T664T|PASK_uc010zom.2_Silent_p.T815T|PASK_uc010fzl.2_Silent_p.T850T|PASK_uc010zon.2_Silent_p.T631T|PASK_uc021vzf.1_Silent_p.T850T|PASK_uc002wap.3_Silent_p.T393T|PASK_uc002waq.3_Silent_p.T850T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	850				T -> M (in Ref. 2; BAA09484).	regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.T850T(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCATCCAACGTGGAAGGAA	0.587													T	242065780	C	T	242065780	2	4	264	1	0	0	0	0	0	0	0	1	11472	523	19	1		1	PASK	2	242065780	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	22374040	242065780	1133593	11	18504											
FBXL2	25827	broad.mit.edu	37	3	33415165	33415165	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:33415165T>G	uc003cfp.3	+	7	622	c.551T>G	c.(550-552)cTg>cGg	p.L184R	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Missense_Mutation_p.L100R|FBXL2_uc021wuy.1_Intron|FBXL2_uc011axo.2_Missense_Mutation_p.L79R|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	184					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TGTCGAGGCCTGAAAGCCCTG	0.552													G	33415165	T	G	33415165	3	3	264	1	0	0	0	0	1	0	0	0	5716	1580	55	5	581	5	FBXL2	3	33415165	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08		33415165	164607265	12	18505											
CSRNP1	64651	broad.mit.edu	37	3	39188146	39188146	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:39188146C>A	uc003cjg.3	-	1	242	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	CSRNP1_uc003cjh.3_Missense_Mutation_p.D10Y	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	10					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TCCAGCTGGTCAAATTTCCTC	0.587													A	39188146	C	A	39188146	3	1	264	1	0	0	0	0	1	0	0	0	3963	826	29	5	1757	5	CSRNP1	3	39188146	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	5772981	39188146	158834284	13	18506											
C3orf15	89876	broad.mit.edu	37	3	119462994	119462994	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:119462994G>A	uc003ede.4	+	13	1930	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	C3orf15_uc010hqz.3_Missense_Mutation_p.R556H|C3orf15_uc011bjd.2_Missense_Mutation_p.R492H|C3orf15_uc011bje.2_Missense_Mutation_p.R598H	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	454						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AGTGGTCGGCGCCAGGTGGAA	0.592													A	119462994	G	A	119462994	3	1	264	1	0	0	0	0	1	0	0	0	2209	1087	38	1	1907	1	C3orf15	3	119462994	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	80274848	119462994	78559436	14	18507											
FAM194A	131831	broad.mit.edu	37	3	150387205	150387205	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:150387205C>T	uc003eyg.3	-	11	1434	c.1377G>A	c.(1375-1377)gtG>gtA	p.V459V	FAM194A_uc003eyh.3_Silent_p.V313V	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	459										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTTGTTGGGCACTCGAATGA	0.418													T	150387205	C	T	150387205	2	4	264	1	0	0	0	0	0	0	0	1	5526	697	25	3		3	FAM194A	3	150387205	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	30924211	150387205	47635225	15	18508											
ZNF718	152687	broad.mit.edu	37	4	86956	86956	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:86956C>G	uc003fzv.1	+	5	1664	c.1508C>G	c.(1507-1509)tCa>tGa	p.S503*	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Nonsense_Mutation_p.S289*|ZNF718_uc011but.1_Nonsense_Mutation_p.S289*	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AACCAATCCTCAGGCCTTATT	0.393													G	86956	C	G	86956	4	3	264	1	0	0	0	0	0	1	0	0	18117	827	29	5		5	ZNF718	4	86956	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		86956	191067320	16	18509											
KIT	3815	broad.mit.edu	37	4	55561742	55561742	+	Silent	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:55561742A>G	uc010igr.3	+	1	219	c.132A>G	c.(130-132)tcA>tcG	p.S44S	KIT_uc010igs.3_Silent_p.S44S	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	44	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGAAAATCAGACTTAATAG	0.468		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				G	55561742	A	G	55561742	2	3	264	1	0	0	0	0	0	0	0	1	8329	175	7	4		4	KIT	4	55561742	Silent	SNP	A	TCGA-76-4934-01A-01D-1486-08	55474786	55561742	135592534	17	18510											
GUCY1A3	2982	broad.mit.edu	37	4	156634553	156634553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:156634553C>T	uc003iov.3	+	7	1926	c.1390C>T	c.(1390-1392)Cag>Tag	p.Q464*	GUCY1A3_uc010iqc.2_Nonsense_Mutation_p.Q464*|GUCY1A3_uc010iqd.3_Nonsense_Mutation_p.Q463*|GUCY1A3_uc003iow.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc003iox.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc010iqe.3_Nonsense_Mutation_p.Q229*|GUCY1A3_uc003ioy.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc003ioz.3_Nonsense_Mutation_p.Q229*|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Nonsense_Mutation_p.Q464*	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	464					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGAGGTTGCTCAGCAGCTGTG	0.522													T	156634553	C	T	156634553	4	4	264	1	0	0	0	0	0	1	0	0	6894	827	29	3	1423	3	GUCY1A3	4	156634553	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	101072811	156634553	34519723	18	18511											
NAF1	92345	broad.mit.edu	37	4	164050120	164050120	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:164050120G>A	uc003iqj.3	-	7	1608	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	472	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggagggggagggggtgggggt	0.512													A	164050120	G	A	164050120	3	1	264	1	0	0	0	0	1	0	0	0	10140	1232	43	3	215	3	NAF1	4	164050120	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	7415567	164050120	27104156	19	18512											
SLC6A3	6531	broad.mit.edu	37	5	1422074	1422074	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:1422074G>A	uc003jck.3	-	4	835	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	237			R -> Q (in dbSNP:rs6345).		cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCTGCCACCGCGGAGGCCCC	0.657													A	1422074	G	A	1422074	3	1	264	1	0	0	0	0	1	0	0	0	14685	1086	38	1	1197	1	SLC6A3	5	1422074	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		1422074	179493186	20	18513											
NPR3	4883	broad.mit.edu	37	5	32724903	32724903	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:32724903A>G	uc003jhv.3	+	1	1314	c.869A>G	c.(868-870)gAg>gGg	p.E290G	NPR3_uc010iuo.3_Missense_Mutation_p.E74G|NPR3_uc003jhw.2_Missense_Mutation_p.E74G|NPR3_uc003jhu.3_Missense_Mutation_p.E290G	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	290					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCAACATTGAGCTCTTCAAC	0.537													G	32724903	A	G	32724903	3	3	264	1	0	0	0	0	1	0	0	0	10596	304	11	4	875	4	NPR3	5	32724903	Missense_Mutation	SNP	A	TCGA-76-4934-01A-01D-1486-08	31302829	32724903	148190357	21	18514											
LYSMD3	116068	broad.mit.edu	37	5	89815175	89815175	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:89815175G>C	uc003kjr.3	-	2	530	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	LYSMD3_uc010jaz.2_Intron|LYSMD3_uc003kjs.1_Missense_Mutation_p.T108R	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	128					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CGTGAAGTCTGTCTTCCTTTT	0.393													C	89815175	G	C	89815175	3	2	264	1	0	0	0	0	1	0	0	0	9126	1386	48	5	542	5	LYSMD3	5	89815175	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	57090272	89815175	91100085	22	18515											
DTWD2	285605	broad.mit.edu	37	5	118324199	118324199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:118324199G>T	uc003ksa.3	-	0	42	c.8C>A	c.(7-9)tCg>tAg	p.S3*		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	3										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CTCTTTCTGCGACTCCATGGC	0.706											OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	118324199	G	T	118324199	4	4	264	1	0	0	0	0	0	1	0	0	4792	1059	37	5	912	5	DTWD2	5	118324199	Nonsense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	28509024	118324199	62591061	23	18516											
PCDHAC2	56143	broad.mit.edu	37	5	140202968	140202968	+	Silent	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:140202968G>A	uc003lhl.2	+	0	1608	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.A536A|PCDHAC2_uc003lhj.1_Silent_p.A536A	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.677													A	140202968	G	A	140202968	2	1	264	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140202968	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	21878769	140202968	40712292	24	18517											
KIF4B	285643	broad.mit.edu	37	5	154393566	154393566	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:154393566C>G	uc010jih.1	+	0	307	c.147C>G	c.(145-147)ttC>ttG	p.F49L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	49	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAAATCCTTCACCTACGATT	0.488													G	154393566	C	G	154393566	3	3	264	1	0	0	0	0	1	0	0	0	8304	825	29	5	149	5	KIF4B	5	154393566	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	14190598	154393566	26521694	25	18518											
STK10	6793	broad.mit.edu	37	5	171510086	171510086	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:171510086C>T	uc003mbo.1	-	10	1988	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	563							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGTTCCTGGCGCCTGAAAGG	0.468													T	171510086	C	T	171510086	3	4	264	1	0	0	0	0	1	0	0	0	15285	768	27	1	1254	1	STK10	5	171510086	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	17116520	171510086	9405174	26	18519											
CAGE1	285782	broad.mit.edu	37	6	7370288	7370288	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr6:7370288G>A	uc003mxl.2	-	5	2288	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.T450M|CAGE1_uc003mxj.3_Missense_Mutation_p.T341M|CAGE1_uc003mxk.2_Missense_Mutation_p.T586M	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	586										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGAATGTGTCGTTTTTGTATC	0.378													A	7370288	G	A	7370288	3	1	264	1	0	0	0	0	1	0	0	0	2572	1145	40	1	904	1	CAGE1	6	7370288	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		7370288	163744779	27	18520											
TJAP1	93643	broad.mit.edu	37	6	43472961	43472961	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr6:43472961C>T	uc003ovd.2	+	10	1418	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	TJAP1_uc003ovf.2_Missense_Mutation_p.P338S|TJAP1_uc003ove.2_Missense_Mutation_p.P338S|TJAP1_uc003ovc.2_Missense_Mutation_p.P338S|TJAP1_uc010jyp.2_Missense_Mutation_p.P307S|TJAP1_uc011dvh.1_Missense_Mutation_p.P338S|TJAP1_uc003ovg.2_Missense_Mutation_p.P214S|TJAP1_uc011dvi.1_Missense_Mutation_p.P348S|TJAP1_uc011dvj.2_Missense_Mutation_p.P148S|TJAP1_uc003ovi.2_Missense_Mutation_p.P214S	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	348						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGCCCCCTGCCCAACTGCAC	0.652													T	43472961	C	T	43472961	3	4	264	1	0	0	0	0	1	0	0	0	15925	739	26	3	1072	3	TJAP1	6	43472961	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	36102673	43472961	127642106	28	18521											
POM121C	100101267	broad.mit.edu	37	7	75048122	75048122	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:75048122C>A	uc003udk.4	-	14	3806	c.2921G>T	c.(2920-2922)cGa>cTa	p.R974L		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	1216	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAGTCGCTGTCGAGCCCCTGG	0.592													A	75048122	C	A	75048122	3	1	264	1	0	0	0	0	1	0	0	0	12240	884	31	5	46	5	POM121C	7	75048122	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		75048122	84090541	29	18522											
COL1A2	1278	broad.mit.edu	37	7	94040399	94040399	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:94040399C>T	uc003ung.1	+	22	1754	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	428					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCAAGTGGCCCTGCTGGAGTC	0.507										HNSCC(75;0.22)			T	94040399	C	T	94040399	3	4	264	1	0	0	0	0	1	0	0	0	3678	681	24	3	1373	3	COL1A2	7	94040399	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	18992277	94040399	65098264	30	18523											
FEZF1	389549	broad.mit.edu	37	7	121943310	121943310	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:121943310C>T	uc003vkd.3	-	1	931	c.857G>A	c.(856-858)aGa>aAa	p.R286K	FEZF1_uc003vkc.3_Missense_Mutation_p.R236K|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	286					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACGAAGGGTCTGGCTCCTGT	0.468													T	121943310	C	T	121943310	3	4	264	1	0	0	0	0	1	0	0	0	5825	913	32	3	582	3	FEZF1	7	121943310	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	27902911	121943310	37195353	31	18524											
FGL1	2267	broad.mit.edu	37	8	17726236	17726236	+	Silent	SNP	G	G	A	rs142240316		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:17726236G>A	uc003wye.3	-	8	1416	c.750C>T	c.(748-750)taC>taT	p.Y250Y	FGL1_uc003wxx.3_Silent_p.Y200Y|FGL1_uc003wxy.3_Silent_p.Y200Y|FGL1_uc003wya.3_Silent_p.Y200Y|FGL1_uc003wyb.3_Silent_p.Y200Y	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	200	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding	p.Y200Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TATTCAACTCGTAGAAATTCT	0.383													A	17726236	G	A	17726236	2	1	264	1	0	0	0	0	0	0	0	1	5872	1140	40	1		1	FGL1	8	17726236	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08		17726236	128637786	32	18525											
DCAF4L2	138009	broad.mit.edu	37	8	88886046	88886046	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:88886046T>A	uc003ydz.3	-	0	251	c.154A>T	c.(154-156)Agc>Tgc	p.S52C		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	52										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGCATGCAGCTTACACGCAGC	0.507													A	88886046	T	A	88886046	3	1	264	1	0	0	0	0	1	0	0	0	4272	1609	56	5	1037	5	DCAF4L2	8	88886046	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08	71159810	88886046	57477976	33	18526											
LRRC24	441381	broad.mit.edu	37	8	145749853	145749853	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:145749853A>G	uc003zdm.3	-	2	542	c.410T>C	c.(409-411)cTg>cCg	p.L137P	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	137						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAAATCCAGCAGCCGCGCCAG	0.662													G	145749853	A	G	145749853	3	3	264	1	0	0	0	0	1	0	0	0	8979	188	7	4	1143	4	LRRC24	8	145749853	Missense_Mutation	SNP	A	TCGA-76-4934-01A-01D-1486-08	56863807	145749853	614169	34	18527											
ANXA2	304	broad.mit.edu	37	9	33625120	33625120	+	Silent	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:33625120G>A	uc010mjx.3	+	0	898	c.849G>A	c.(847-849)acG>acA	p.T283T	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank|DJ439530_uc022bfr.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	283					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	GCAAGGGGACGCGAGATAAGG	0.483													A	33625120	G	A	33625120	2	1	264	1	0	0	0	0	0	0	0	1	718	1102	38	1		1	ANXA2	9	33625120	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08		33625120	107588311	35	18528											
NUP188	23511	broad.mit.edu	37	9	131752466	131752466	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:131752466G>T	uc004bws.1	+	24	2623	c.2601G>T	c.(2599-2601)ttG>ttT	p.L867F	NUP188_uc004bwu.3_Missense_Mutation_p.L210F	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	867					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCTGCTTTGCCACGTCTTG	0.448													T	131752466	G	T	131752466	3	4	264	1	0	0	0	0	1	0	0	0	10758	1310	46	5	2699	5	NUP188	9	131752466	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	98127346	131752466	9460965	36	18529											
BRD3	8019	broad.mit.edu	37	9	136913570	136913570	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:136913570C>T	uc004cew.3	-	5	909	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	BRD3_uc004cex.2_Missense_Mutation_p.G241S	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	241						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGCTTCACGCCCTTTTTCTGC	0.627			T	C15orf55	lethal midline carcinoma of young people								T	136913570	C	T	136913570	3	4	264	1	0	0	0	0	1	0	0	0	1503	623	22	3	1487	3	BRD3	9	136913570	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	5161104	136913570	4299861	37	18530											
SLC39A12	221074	broad.mit.edu	37	10	18276538	18276538	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:18276538C>T	uc001ipo.2	+	6	1500	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	SLC39A12_uc001ipn.2_Silent_p.V409V|SLC39A12_uc001ipp.2_Silent_p.V409V|SLC39A12_uc010qck.1_Silent_p.V275V	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	409					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.A408A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCTTGGCCGTCGGGACACTGT	0.502													T	18276538	C	T	18276538	2	4	264	1	0	0	0	0	0	0	0	1	14615	871	31	2		2	SLC39A12	10	18276538	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08		18276538	117258209	38	18531											
C10orf140	387640	broad.mit.edu	37	10	21805467	21805469	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:21805467_21805469delCCT	uc009xkd.3	-	3	3536_3538	c.1283_1285delAGG	c.(1282-1287)gagggg>ggg	p.E428del	AK055656_uc001iqp.1_Non-coding_Transcript|C10orf140_uc021pnx.1_In_Frame_Del_p.E428del	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	347						nucleus	nucleotide binding	p.E428_G429insEE(3)		kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						CCGCTGCccccctcctcctcctc	0.616													-	21805469	CCT	-	21805467	7	5	264	1	0	1	0	1	0	0	0	0	1595	623	22	0	1445	0	C10orf140	10	21805467	In_Frame_Del	DEL	CCT	TCGA-76-4934-01A-01D-1486-08	3528929	21805467	113729280	39	18532											
SVIL	6840	broad.mit.edu	37	10	29784039	29784039	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:29784039C>T	uc001iut.1	-	18	4489	c.3736G>A	c.(3736-3738)Gtt>Att	p.V1246I	SVIL_uc010qdw.1_Missense_Mutation_p.V160I|SVIL_uc001iuu.1_Missense_Mutation_p.V820I|SVIL_uc009xlc.2_Missense_Mutation_p.V38I	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1246					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGTTTGGAAACGGGTGTGGTG	0.552													T	29784039	C	T	29784039	3	4	264	1	0	0	0	0	1	0	0	0	15418	536	19	1	2988	1	SVIL	10	29784039	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	7978572	29784039	105750708	40	18533											
PTEN	5728	broad.mit.edu	37	10	89692778	89692778	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:89692778T>C	uc001kfb.3	+	4	1294	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	88	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y88C(9)|p.?(5)|p.R55fs*1(5)|p.Y88N(2)|p.Y27fs*1(2)|p.Y88H(2)|p.Y88fs*3(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.Y88S(1)|p.F56fs*2(1)|p.Q87*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTGCACAATATCCTTTTGA	0.338		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692778	T	C	89692778	3	2	264	1	0	0	0	0	1	0	0	0	12738	1406	49	4	280	4	PTEN	10	89692778	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08	59908739	89692778	45841969	41	18534											
OR52E8	390079	broad.mit.edu	37	11	5878741	5878741	+	Silent	SNP	A	A	G	rs147064631		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:5878741A>G	uc010qzr.2	-	0	192	c.192T>C	c.(190-192)ccT>ccC	p.P64P	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTACATAGGCTCATGGA	0.458													G	5878741	A	G	5878741	2	3	264	1	0	0	0	0	0	0	0	1	11118	407	15	4		4	OR52E8	11	5878741	Silent	SNP	A	TCGA-76-4934-01A-01D-1486-08		5878741	129127775	42	18535			1	41		2	2	25	N	C_A	5.426781e-05
OR52E8	390079	broad.mit.edu	37	11	5878765	5878765	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:5878765C>T	uc010qzr.2	-	0	168	c.168G>A	c.(166-168)caG>caA	p.Q56Q	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTCAGTCTGGATCACAA	0.483													T	5878765	C	T	5878765	2	4	264	1	0	0	0	0	0	0	0	1	11118	912	32	3		3	OR52E8	11	5878765	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	24	5878765	129127751	43	18536			1	41		2	2	25	N	C_A	5.426781e-05
SYT12	91683	broad.mit.edu	37	11	66797643	66797643	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:66797643C>A	uc009yrl.3	+	1	258	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	SYT12_uc001oju.3_Missense_Mutation_p.L10M	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	10						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						AGAATACCATCTGAGCGGTGA	0.567													A	66797643	C	A	66797643	3	1	264	1	0	0	0	0	1	0	0	0	15465	912	32	5	30	5	SYT12	11	66797643	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	60918878	66797643	68208873	44	18537											
KDM5A	5927	broad.mit.edu	37	12	416979	416979	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:416979G>A	uc001qif.1	-	22	3934	c.3571C>T	c.(3571-3573)Ctt>Ttt	p.L1191F		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1191					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1190S(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GATTTAGGAAGAGGAACACAG	0.443			T	NUP98	AML								A	416979	G	A	416979	3	1	264	1	0	0	0	0	1	0	0	0	8133	942	33	3	1525	3	KDM5A	12	416979	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		416979	133434916	45	18538											
TNFRSF1A	7132	broad.mit.edu	37	12	6442637	6442637	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:6442637G>T	uc001qnu.3	-	3	671	c.368C>A	c.(367-369)aCc>aAc	p.T123N	TNFRSF1A_uc001qnt.3_Missense_Mutation_p.T15N|TNFRSF1A_uc010sey.2_Intron|TNFRSF1A_uc010sez.2_Missense_Mutation_p.T15N|TNFRSF1A_uc009zek.3_Missense_Mutation_p.T80N|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.T123N	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	123					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GCCACACACGGTGTCCCGGTC	0.552													T	6442637	G	T	6442637	3	4	264	1	0	0	0	0	1	0	0	0	16290	1261	44	5	1027	5	TNFRSF1A	12	6442637	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	6025658	6442637	127409258	46	18539											
ART4	420	broad.mit.edu	37	12	14993552	14993552	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:14993552G>A	uc001rcl.1	-	1	1046	c.680C>T	c.(679-681)aCc>aTc	p.T227I	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.T227I	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	227					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						GGTGAATATGGTAAATAGTGT	0.463													A	14993552	G	A	14993552	3	1	264	1	0	0	0	0	1	0	0	0	999	1261	44	3	272	3	ART4	12	14993552	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	8550915	14993552	118858343	47	18540											
KRT73	319101	broad.mit.edu	37	12	53011874	53011874	+	Silent	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:53011874G>A	uc001sas.3	-	0	470	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	145	Coil 1A.|Rod.					keratin filament	structural molecule activity			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)		TGTCAATGAAGGAGGCGAACT	0.547													A	53011874	G	A	53011874	2	1	264	1	0	0	0	0	0	0	0	1	8486	987	35	3		3	KRT73	12	53011874	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	38018322	53011874	80840021	48	18541											
LRP1	4035	broad.mit.edu	37	12	57581169	57581169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:57581169G>T	uc001snd.3	+	41	7427	c.6961G>T	c.(6961-6963)Gag>Tag	p.E2321*		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2321					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			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)	AGGGGCCTTCGAGCGTGAGAC	0.607													T	57581169	G	T	57581169	4	4	264	1	0	0	0	0	0	1	0	0	8951	1059	37	5	7127	5	LRP1	12	57581169	Nonsense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	4569295	57581169	76270726	49	18542											
LRIG3	121227	broad.mit.edu	37	12	59274532	59274532	+	Silent	SNP	A	A	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:59274532A>G	uc001sqr.3	-	12	1878	c.1632T>C	c.(1630-1632)gcT>gcC	p.A544A	LRIG3_uc009zqh.3_Silent_p.A484A|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	544	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCCATTTCAGCATCATGCA	0.488			T	ROS1	NSCLC								G	59274532	A	G	59274532	2	3	264	1	0	0	0	0	0	0	0	1	8946	175	7	4		4	LRIG3	12	59274532	Silent	SNP	A	TCGA-76-4934-01A-01D-1486-08	1693363	59274532	74577363	50	18543											
TPTE2	93492	broad.mit.edu	37	13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:20039688G>A	uc001umd.3	-	8	740	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	177						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													A	20039688	G	A	20039688	4	1	264	1	0	0	0	0	0	1	0	0	16428	1066	37	2	1091	2	TPTE2	13	20039688	Nonsense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		20039688	95130190	51	18544											
MPHOSPH8	54737	broad.mit.edu	37	13	20235946	20235946	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:20235946G>A	uc001umh.3	+	7	2001	c.1900G>A	c.(1900-1902)Ggg>Agg	p.G634R	MPHOSPH8_uc001umg.3_Missense_Mutation_p.G634R	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	634					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GCAGAAGAACGGGACCACCGC	0.552													A	20235946	G	A	20235946	3	1	264	1	0	0	0	0	1	0	0	0	9727	1116	39	2	1930	2	MPHOSPH8	13	20235946	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	196258	20235946	94933932	52	18545											
NALCN	259232	broad.mit.edu	37	13	101728226	101728226	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:101728226G>A	uc001vox.1	-	34	4141	c.3952C>T	c.(3952-3954)Cat>Tat	p.H1318Y		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1318						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACTTACATGTTTTCCACAG	0.323													A	101728226	G	A	101728226	3	1	264	1	0	0	0	0	1	0	0	0	10148	1377	48	3	1304	3	NALCN	13	101728226	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	81492280	101728226	13441652	53	18546											
BATF	10538	broad.mit.edu	37	14	76012841	76012841	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr14:76012841C>T	uc001xrr.3	+	2	447	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	69	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CGCGGCTCTACGCAAGGAGAT	0.612													T	76012841	C	T	76012841	3	4	264	1	0	0	0	0	1	0	0	0	1325	536	19	1	215	1	BATF	14	76012841	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		76012841	31336699	54	18547											
HEATR3	55027	broad.mit.edu	37	16	50112858	50112858	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:50112858G>C	uc002efw.3	+	6	1132	c.970G>C	c.(970-972)Gat>Cat	p.D324H	HEATR3_uc021thv.1_Missense_Mutation_p.D238H|HEATR3_uc002efx.3_Missense_Mutation_p.D238H	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	324							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGATTGAAGATGATGAAAT	0.368													C	50112858	G	C	50112858	3	2	264	1	0	0	0	0	1	0	0	0	7029	942	33	5	996	5	HEATR3	16	50112858	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		50112858	40241895	55	18548											
SLC12A3	6559	broad.mit.edu	37	16	56904089	56904089	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:56904089C>T	uc002ekd.4	+	4	712	c.683C>T	c.(682-684)gCc>gTc	p.A228V	SLC12A3_uc010ccm.3_Missense_Mutation_p.A228V|SLC12A3_uc010ccn.3_Missense_Mutation_p.A227V	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	228					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCGCCAATGCCGTGGGTGTG	0.662													T	56904089	C	T	56904089	3	4	264	1	0	0	0	0	1	0	0	0	14384	739	26	3	701	3	SLC12A3	16	56904089	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	6791231	56904089	33450664	56	18549											
ZC3H18	124245	broad.mit.edu	37	16	88688690	88688690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:88688690C>T	uc010voz.2	+	9	1833	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	ZC3H18_uc002fky.3_Nonsense_Mutation_p.R521*|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	521	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R521*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCTTGGCGCCGATCCAAGTC	0.602													T	88688690	C	T	88688690	4	4	264	1	0	0	0	0	0	1	0	0	17565	644	23	2	1591	2	ZC3H18	16	88688690	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	31784601	88688690	1666063	57	18550											
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			T	7577120	C	T	7577120	3	4	264	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		7577120	73618090	58	18551											
KRT16	3868	broad.mit.edu	37	17	39766792	39766792	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr17:39766792C>T	uc002hxg.4	-	5	1210	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	357	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GGCTGTTCTCCAGGGATGCTT	0.557													T	39766792	C	T	39766792	2	4	264	1	0	0	0	0	0	0	0	1	8453	581	21	3		3	KRT16	17	39766792	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	32189672	39766792	41428418	59	18552											
NDC80	10403	broad.mit.edu	37	18	2610820	2610820	+	Missense_Mutation	SNP	G	G	A	rs144795559		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr18:2610820G>A	uc002kli.3	+	15	1933	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	584	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AACTTGCAACGTCTGTTAGAG	0.373													A	2610820	G	A	2610820	3	1	264	1	0	0	0	0	1	0	0	0	10242	1145	40	1	1809	1	NDC80	18	2610820	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		2610820	75466428	60	18553											
PCSK4	54760	broad.mit.edu	37	19	1482471	1482471	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:1482471G>A	uc002ltb.1	-	13	1762	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	PCSK4_uc002lsz.2_Missense_Mutation_p.T54M|PCSK4_uc002lta.2_Silent_p.D337D	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	567					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GCGGTACAACGTCCCTGGACA	0.687													A	1482471	G	A	1482471	3	1	264	1	0	0	0	0	1	0	0	0	11602	1145	40	1	575	1	PCSK4	19	1482471	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		1482471	57646512	61	18554											
GPATCH1	55094	broad.mit.edu	37	19	33579113	33579113	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:33579113delC	uc002nug.1	+	1	461	c.147delC	c.(145-147)ttcfs	p.F49fs		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	49						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					ATAAACGATTCCACGGGGCCT	0.358													-	33579113	C	-	33579113	7	5	264	1	0	1	0	1	0	0	0	0	6590	854	30	0	153	0	GPATCH1	19	33579113	Frame_Shift_Del	DEL	C	TCGA-76-4934-01A-01D-1486-08	32096642	33579113	25549870	62	18555											
PSG11	5680	broad.mit.edu	37	19	43523198	43523198	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:43523198C>G	uc002ovm.1	-	2	540	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.E23Q|PSG11_uc002ovo.1_Missense_Mutation_p.E23Q	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	145					female pregnancy	extracellular region		p.E145*(3)|p.L144M(1)|p.L144L(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)				TTGGGAGTCTCCACTGTGCAG	0.507													G	43523198	C	G	43523198	3	3	264	1	0	0	0	0	1	0	0	0	12654	864	30	5	586	5	PSG11	19	43523198	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	9944085	43523198	15605785	63	18556											
CD40	958	broad.mit.edu	37	20	44750990	44750990	+	Silent	SNP	C	C	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr20:44750990C>T	uc002xrg.1	+	2	326	c.249C>T	c.(247-249)tgC>tgT	p.C83C	CD40_uc002xrf.1_Silent_p.C83C|CD40_uc002xrh.1_Silent_p.C83C|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	83			C -> R (in HIGM3; dbSNP:rs28931586).		B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	p.Y82H(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	ACAAATACTGCGACCCCAGTG	0.527									Immune Deficiency with Hyper-IgM				T	44750990	C	T	44750990	2	4	264	1	0	0	0	0	0	0	0	1	3015	776	27	1		1	CD40	20	44750990	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08		44750990	18274530	64	18557											
ALG12	79087	broad.mit.edu	37	22	50307405	50307405	+	Silent	SNP	T	T	C			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr22:50307405T>C	uc003biy.3	-	1	283	c.9A>G	c.(7-9)ggA>ggG	p.G3G		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	3					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ATGACCCCTTTCCAGCCATTC	0.597													C	50307405	T	C	50307405	2	2	264	1	0	0	0	0	0	0	0	1	514	1770	62	4		4	ALG12	22	50307405	Silent	SNP	T	TCGA-76-4934-01A-01D-1486-08		50307405	997161	65	18558											
ARSE	415	broad.mit.edu	37	X	2867360	2867360	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:2867360G>A	uc011mhh.2	-	6	1375	c.914C>T	c.(913-915)gCg>gTg	p.A305V	ARSE_uc011mhi.2_Missense_Mutation_p.A226V|ARSE_uc004crc.4_Missense_Mutation_p.A280V			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	280					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				GAGAAAGGACGCAACCTCCTG	0.488													A	2867360	G	A	2867360	3	1	264	1	0	0	0	0	1	0	0	0	990	1087	38	1	954	1	ARSE	23	2867360	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		2867360	152403200	66	18559											
CACNA1F	778	broad.mit.edu	37	X	49065814	49065814	+	Silent	SNP	G	G	T			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:49065814G>T	uc004dnb.3	-	41	4956	c.4894C>A	c.(4894-4896)Cgg>Agg	p.R1632R	CACNA1F_uc010nip.3_Silent_p.R1621R	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1632					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGGGCCTGCCGCATCTCAGGA	0.572													T	49065814	G	T	49065814	2	4	264	1	0	0	0	0	0	0	0	1	2543	1086	38	5		5	CACNA1F	23	49065814	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	46198454	49065814	106204746	67	18560											
STARD8	9754	broad.mit.edu	37	X	67937331	67937331	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:67937331G>A	uc004dxb.3	+	5	789	c.575G>A	c.(574-576)gGc>gAc	p.G192D	STARD8_uc004dxa.3_Missense_Mutation_p.G112D|STARD8_uc004dxc.4_Missense_Mutation_p.G112D	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	112					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCCACCCAGGGCCAGGAGGGT	0.637													A	67937331	G	A	67937331	3	1	264	1	0	0	0	0	1	0	0	0	15262	1203	42	3	597	3	STARD8	23	67937331	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	18871517	67937331	87333229	68	18561											
CXorf57	55086	broad.mit.edu	37	X	105855563	105855563	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:105855563G>A	uc004emi.4	+	0	404	c.253G>A	c.(253-255)Gac>Aac	p.D85N	CXorf57_uc004emj.4_Missense_Mutation_p.D85N|CXorf57_uc004emh.2_Missense_Mutation_p.D85N	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	85										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAGCCACGCGACACGGTGCC	0.572													A	105855563	G	A	105855563	3	1	264	1	0	0	0	0	1	0	0	0	4113	1058	37	2	255	2	CXorf57	23	105855563	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	37918232	105855563	49414997	69	18562											
ZNF280C	55609	broad.mit.edu	37	X	129354388	129354388	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:129354388G>A	uc004evm.3	-	12	1665	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y	ZNF280C_uc010nrf.2_Missense_Mutation_p.H439Y	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCGCCTTATGTTCAGCTTTC	0.383													A	129354388	G	A	129354388	3	1	264	1	0	0	0	0	1	0	0	0	17813	1377	48	3	779	3	ZNF280C	23	129354388	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	23498825	129354388	25916172	70	18563											
AADACL4	343066	broad.mit.edu	37	1	12726232	12726232	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:12726232A>G	uc001auf.3	+	3	710	c.710A>G	c.(709-711)cAg>cGg	p.Q237R		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	237						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCCTTTCAGCAGAACCAAAAT	0.517													G	12726232	A	G	12726232	3	3	265	1	0	0	0	0	1	0	0	0	13	188	7	4	724	4	AADACL4	1	12726232	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		12726232	236524389	1	18564											
C1orf173	127254	broad.mit.edu	37	1	75038917	75038917	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:75038917G>C	uc001dgg.3	-	13	2696	c.2477C>G	c.(2476-2478)aCa>aGa	p.T826R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	826	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTTTTTCTGTAAACTCTTC	0.582													C	75038917	G	C	75038917	3	2	265	1	0	0	0	0	1	0	0	0	2014	1377	48	5	2119	5	C1orf173	1	75038917	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	62312685	75038917	174211704	2	18565											
MAGI3	260425	broad.mit.edu	37	1	114215328	114215328	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:114215328G>A	uc001edk.3	+	17	3191	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	MAGI3_uc001edh.3_Missense_Mutation_p.A1029T|MAGI3_uc001edi.4_Missense_Mutation_p.A1004T|MAGI3_uc010owm.2_Missense_Mutation_p.A1029T|MAGI3_uc001edj.3_Missense_Mutation_p.A725T	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1029					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.T1003T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTGACACCGCAGTAATTTC	0.458													A	114215328	G	A	114215328	3	1	265	1	0	0	0	0	1	0	0	0	9192	1087	38	1	3080	1	MAGI3	1	114215328	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	39176411	114215328	135035293	3	18566											
MTMR11	10903	broad.mit.edu	37	1	149906114	149906114	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:149906114G>A	uc001etl.4	-	6	904	c.653C>T	c.(652-654)aCg>aTg	p.T218M	MTMR11_uc001etm.2_Missense_Mutation_p.T146M|MTMR11_uc010pbm.1_Missense_Mutation_p.T190M|MTMR11_uc010pbn.1_Missense_Mutation_p.T60M	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	218	Myotubularin phosphatase.						phosphatase activity	p.T146M(1)|p.T218M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCGTTGACCGTGCTGACCCT	0.572													A	149906114	G	A	149906114	3	1	265	1	0	0	0	0	1	0	0	0	9940	1145	40	1	1559	1	MTMR11	1	149906114	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	35690786	149906114	99344507	4	18567											
PLXNA2	5362	broad.mit.edu	37	1	208391207	208391207	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:208391207G>T	uc001hgz.3	-	1	819	c.61C>A	c.(61-63)Ctc>Atc	p.L21I	PLXNA2_uc001hha.4_Missense_Mutation_p.L75I	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	21					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCACTGAGAGCAGGACCACA	0.657													T	208391207	G	T	208391207	3	4	265	1	0	0	0	0	1	0	0	0	12120	971	34	5	5747	5	PLXNA2	1	208391207	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	58485093	208391207	40859414	5	18568											
SRBD1	55133	broad.mit.edu	37	2	45801787	45801787	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:45801787G>A	uc002rus.3	-	7	1224	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	383					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			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)			GAAGTCAAGCGTGTCTTTGTC	0.393													A	45801787	G	A	45801787	3	1	265	1	0	0	0	0	1	0	0	0	15132	1145	40	1	1895	1	SRBD1	2	45801787	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		45801787	197397586	6	18569											
GALNT5	11227	broad.mit.edu	37	2	158165186	158165186	+	Silent	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:158165186A>G	uc002tzg.3	+	8	2883	c.2628A>G	c.(2626-2628)agA>agG	p.R876R	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	876	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GTGATAACAGAAACAAAGGGC	0.388													G	158165186	A	G	158165186	2	3	265	1	0	0	0	0	0	0	0	1	6216	243	9	4		4	GALNT5	2	158165186	Silent	SNP	A	TCGA-76-4935-01A-01D-1486-08	112363399	158165186	85034187	7	18570											
VIL1	7429	broad.mit.edu	37	2	219294359	219294359	+	Silent	SNP	C	C	T	rs148795202		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:219294359C>T	uc002vib.3	+	6	832	c.810C>T	c.(808-810)gtC>gtT	p.V270V	VIL1_uc010zke.2_5'UTR|VIL1_uc002via.3_Silent_p.V270V|VIL1_uc002vic.1_Silent_p.V270V	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	270	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGGGAAGTCGCCACACGGC	0.622													T	219294359	C	T	219294359	2	4	265	1	0	0	0	0	0	0	0	1	17161	871	31	2		2	VIL1	2	219294359	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	61129173	219294359	23905014	8	18571											
SPEG	10290	broad.mit.edu	37	2	220344732	220344732	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:220344732C>T	uc010fwg.3	+	24	5212	c.5212C>T	c.(5212-5214)Cgg>Tgg	p.R1738W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1738	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			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)		GCAGCAGGTGCGGATCTGTGA	0.572													T	220344732	C	T	220344732	3	4	265	1	0	0	0	0	1	0	0	0	15035	759	27	1	5322	1	SPEG	2	220344732	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	1050373	220344732	22854641	9	18572											
D2HGDH	728294	broad.mit.edu	37	2	242681957	242681957	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:242681957T>C	uc002wce.1	+	3	631	c.458T>C	c.(457-459)aTg>aCg	p.M153T	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.M19T|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	153	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACTGCCCGCATGAACCGGGTC	0.642													C	242681957	T	C	242681957	3	2	265	1	0	0	0	0	1	0	0	0	4213	1464	51	4	468	4	D2HGDH	2	242681957	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	22337225	242681957	517416	10	18573											
GOLGA4	2803	broad.mit.edu	37	3	37366849	37366849	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:37366849G>A	uc003cgv.3	+	13	3832	c.3472G>A	c.(3472-3474)Gtt>Att	p.V1158I	GOLGA4_uc010hgr.2_Missense_Mutation_p.V719I|GOLGA4_uc003cgw.3_Missense_Mutation_p.V1180I|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.V1039I	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1158	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGCAGCTAGTTGAACTGAA	0.383													A	37366849	G	A	37366849	3	1	265	1	0	0	0	0	1	0	0	0	6555	1029	36	3	3596	3	GOLGA4	3	37366849	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		37366849	160655581	11	18574											
CEP63	80254	broad.mit.edu	37	3	134225989	134225989	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:134225989T>C	uc003eqo.1	+	3	532	c.83T>C	c.(82-84)cTc>cCc	p.L28P	CEP63_uc003eql.1_Missense_Mutation_p.L28P|CEP63_uc003eqm.3_Missense_Mutation_p.L28P|CEP63_uc003eqn.1_Missense_Mutation_p.L28P	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	28					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTACAGGAGCTCATGAAACAG	0.363													C	134225989	T	C	134225989	3	2	265	1	0	0	0	0	1	0	0	0	3257	1551	54	4	89	4	CEP63	3	134225989	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	96859140	134225989	63796441	12	18575											
HTR3D	200909	broad.mit.edu	37	3	183756271	183756271	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:183756271C>A	uc011bqv.2	+	6	994	c.994C>A	c.(994-996)Cac>Aac	p.H332N	HTR3D_uc003fmj.3_Missense_Mutation_p.H157N|HTR3D_uc011bqu.2_Missense_Mutation_p.H282N|HTR3D_uc010hxp.3_Missense_Mutation_p.H111N	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	332						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACCTGCTGCACGTGGCCAC	0.652													A	183756271	C	A	183756271	3	1	265	1	0	0	0	0	1	0	0	0	7447	710	25	5	1190	5	HTR3D	3	183756271	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	49530282	183756271	14266159	13	18576											
TRIML2	205860	broad.mit.edu	37	4	189018255	189018255	+	Silent	SNP	G	G	A	rs144128750		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr4:189018255G>A	uc011cle.1	-	6	1002	c.780C>T	c.(778-780)tgC>tgT	p.C260C	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.C185C	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	185	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|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)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCTTATGTGGCATAAACTCA	0.493													A	189018255	G	A	189018255	2	1	265	1	0	0	0	0	0	0	0	1	16548	1195	42	3		3	TRIML2	4	189018255	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08		189018255	2136021	14	18577											
HCN1	348980	broad.mit.edu	37	5	45262592	45262592	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:45262592C>T	uc003jok.3	-	7	2129	c.2104G>A	c.(2104-2106)Gcg>Acg	p.A702T		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	702						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A702A(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCAGACCGCGGTGGTGTAG	0.642													T	45262592	C	T	45262592	3	4	265	1	0	0	0	0	1	0	0	0	6996	768	27	1	572	1	HCN1	5	45262592	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		45262592	135652668	15	18578											
RGNEF	64283	broad.mit.edu	37	5	73048878	73048878	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:73048878G>A	uc010izf.3	+	3	502	c.326G>A	c.(325-327)cGc>cAc	p.R109H	RGNEF_uc011csq.2_Missense_Mutation_p.R109H|RGNEF_uc003kcy.1_Missense_Mutation_p.R109H|RGNEF_uc021yam.1_Missense_Mutation_p.R109H	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	109					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CAGGCCAATCGCCTCACAGCC	0.617													A	73048878	G	A	73048878	3	1	265	1	0	0	0	0	1	0	0	0	13283	1087	38	1	336	1	RGNEF	5	73048878	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	27786286	73048878	107866382	16	18579											
FBXO38	81545	broad.mit.edu	37	5	147807459	147807459	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:147807459C>A	uc003lpf.1	+	14	2722	c.2602C>A	c.(2602-2604)Cta>Ata	p.L868I	FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	868						cytoplasm|nucleus			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)			TCGGAGGCCCCTAACCAGGGC	0.562													A	147807459	C	A	147807459	3	1	265	1	0	0	0	0	1	0	0	0	5746	680	24	5	2656	5	FBXO38	5	147807459	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	74758581	147807459	33107801	17	18580											
FOXI1	2299	broad.mit.edu	37	5	169535162	169535162	+	Silent	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:169535162C>A	uc003mai.4	+	1	729	c.684C>A	c.(682-684)tcC>tcA	p.S228S	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	228					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACAGCCTCCTTGGCCTTAG	0.532									Pendred syndrome				A	169535162	C	A	169535162	2	1	265	1	0	0	0	0	0	0	0	1	6009	668	24	5		5	FOXI1	5	169535162	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	21727703	169535162	11380098	18	18581											
DAXX	1616	broad.mit.edu	37	6	33286946	33286946	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr6:33286946C>A	uc003oec.3	-	6	2195	c.1991G>T	c.(1990-1992)tGt>tTt	p.C664F	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Intron|DAXX_uc021ywo.1_Intron|DAXX_uc011dre.2_Missense_Mutation_p.C676F|DAXX_uc003oed.3_Missense_Mutation_p.C664F|DAXX_uc011drd.2_Missense_Mutation_p.C589F	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	664	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGGCAGGGTACATATCTTTTT	0.542			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								A	33286946	C	A	33286946	3	1	265	1	0	0	0	0	1	0	0	0	4243	478	17	5	239	5	DAXX	6	33286946	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		33286946	137828121	19	18582											
ABCB5	340273	broad.mit.edu	37	7	20782599	20782599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:20782599C>T	uc010kuh.3	+	24	3361	c.3124C>T	c.(3124-3126)Cga>Tga	p.R1042*	ABCB5_uc003suw.4_Nonsense_Mutation_p.R597*	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	597					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			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						CAGTATTGAGCGAGGAAAGAC	0.483													T	20782599	C	T	20782599	4	4	265	1	0	0	0	0	0	1	0	0	44	760	27	1	3259	1	ABCB5	7	20782599	Nonsense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		20782599	138356064	20	18583											
C7orf60	154743	broad.mit.edu	37	7	112461814	112461814	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:112461814T>C	uc011kms.1	-	5	1408	c.1281A>G	c.(1279-1281)atA>atG	p.I427M	C7orf60_uc003vgo.1_Missense_Mutation_p.I401M	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	401										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTAAAAGTAATATGGGGTCTT	0.398													C	112461814	T	C	112461814	3	2	265	1	0	0	0	0	1	0	0	0	2407	1396	49	4	18	4	C7orf60	7	112461814	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	91679215	112461814	46676849	21	18584											
PPP1R3A	5506	broad.mit.edu	37	7	113518832	113518832	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:113518832G>A	uc010ljy.1	-	3	2346	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	772					glycogen metabolic process	integral to membrane		p.A772A(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGGATCAAACGCTGTTTCCTT	0.403													A	113518832	G	A	113518832	3	1	265	1	0	0	0	0	1	0	0	0	12371	1087	38	1	1057	1	PPP1R3A	7	113518832	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	1057018	113518832	45619831	22	18585											
OR2A1	346528	broad.mit.edu	37	7	144015510	144015510	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:144015510C>T	uc011kud.2	+	0	293	c.293C>T	c.(292-294)aCg>aTg	p.T98M	OR2A9P_uc003wec.1_Intron	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					GGCTGCATGACGCAGACCTTT	0.577													T	144015510	C	T	144015510	3	4	265	1	0	0	0	0	1	0	0	0	10974	536	19	1	295	1	OR2A1	7	144015510	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	30496678	144015510	15123153	23	18586											
FAM110B	90362	broad.mit.edu	37	8	59059573	59059573	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:59059573G>C	uc022auu.1	+	0	784	c.784G>C	c.(784-786)Gac>Cac	p.D262H	FAM110B_uc003xtj.1_Missense_Mutation_p.D262H	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	262						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTCTAAGTCAGACTTGAGTGA	0.562													C	59059573	G	C	59059573	3	2	265	1	0	0	0	0	1	0	0	0	5397	942	33	5	786	5	FAM110B	8	59059573	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		59059573	87304449	24	18587											
ZFHX4	79776	broad.mit.edu	37	8	77768255	77768255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:77768255C>G	uc003yau.2	+	9	9485	c.9098C>G	c.(9097-9099)tCa>tGa	p.S3033*	ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S2988*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2988			V -> G (in dbSNP:rs16939380).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			CAGCACATTTCAAAAGTGAGG	0.537										HNSCC(33;0.089)			G	77768255	C	G	77768255	4	3	265	1	0	0	0	0	0	1	0	0	17632	838	29	5	9132	5	ZFHX4	8	77768255	Nonsense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	18708682	77768255	68595767	25	18588											
FAM83H	286077	broad.mit.edu	37	8	144808629	144808629	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:144808629C>T	uc003yzk.3	-	4	3071	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1001					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGTGACAGACGCCGCGGGCT	0.697													T	144808629	C	T	144808629	3	4	265	1	0	0	0	0	1	0	0	0	5640	536	19	1	541	1	FAM83H	8	144808629	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	67040374	144808629	1555393	26	18589											
PIP5K1B	8395	broad.mit.edu	37	9	71509330	71509330	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr9:71509330A>G	uc004agu.3	+	7	852	c.547A>G	c.(547-549)Atc>Gtc	p.I183V	PIP5K1B_uc011lrq.2_Missense_Mutation_p.I183V|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	183	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGGCATTAATATCAGGATTGT	0.373													G	71509330	A	G	71509330	3	3	265	1	0	0	0	0	1	0	0	0	11940	449	16	4	565	4	PIP5K1B	9	71509330	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		71509330	69704101	27	18590											
PTEN	5728	broad.mit.edu	37	10	89720805	89720808	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:89720805_89720808delCTTT	uc001kfb.3	+	7	1988_1991	c.956_959delCTTT	c.(955-960)actttafs	p.T319fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T319fs*1(60)|p.L318fs*2(45)|p.0?(37)|p.T319fs*6(12)|p.T319fs*24(8)|p.L320*(6)|p.R55fs*1(5)|p.T319del(4)|p.L320V(2)|p.T319fs*4(2)|p.T319fs*5(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(1)|p.L318fs*3(1)|p.L318F(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGTACTTACTTTAACAAAAAAT	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720808	CTTT	-	89720805	7	5	265	1	0	1	0	1	0	0	0	0	12738	565	20	0	986	0	PTEN	10	89720805	Frame_Shift_Del	DEL	CTTT	TCGA-76-4935-01A-01D-1486-08		89720805	45813942	28	18591											
C10orf12	26148	broad.mit.edu	37	10	98743678	98743678	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:98743678G>T	uc001kmv.3	+	0	2638	c.2531G>T	c.(2530-2532)aGg>aTg	p.R844M		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	844										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGCAAGAAAAGGTCACGGAAA	0.393													T	98743678	G	T	98743678	3	4	265	1	0	0	0	0	1	0	0	0	1589	1000	35	5	2533	5	C10orf12	10	98743678	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	9022873	98743678	36791069	29	18592											
CTBP2	1488	broad.mit.edu	37	10	126727602	126727602	+	Nonsense_Mutation	SNP	T	T	A	rs76555439		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:126727602T>A	uc009yak.3	-	2	309	c.22A>T	c.(22-24)Aaa>Taa	p.K8*	CTBP2_uc009yal.3_Nonsense_Mutation_p.K8*|CTBP2_uc001lif.4_Nonsense_Mutation_p.K8*|CTBP2_uc001lih.4_Nonsense_Mutation_p.K8*	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	8					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCTTGACTTTGTGCTTATCC	0.453													A	126727602	T	A	126727602	4	1	265	1	0	0	0	0	0	1	0	0	3998	1821	63	5	3033	5	CTBP2	10	126727602	Nonsense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	27983924	126727602	8807145	30	18593	23	2									
CTBP2	1488	broad.mit.edu	37	10	126727604	126727604	+	Missense_Mutation	SNP	T	T	C	rs78849795		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:126727604T>C	uc009yak.3	-	2	307	c.20A>G	c.(19-21)cAc>cGc	p.H7R	CTBP2_uc009yal.3_Missense_Mutation_p.H7R|CTBP2_uc001lif.4_Missense_Mutation_p.H7R|CTBP2_uc001lih.4_Missense_Mutation_p.H7R	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	7					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGACTTTGTGCTTATCCAC	0.453													C	126727604	T	C	126727604	3	2	265	1	0	0	0	0	1	0	0	0	3998	1696	59	4	3035	4	CTBP2	10	126727604	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	2	126727604	8807143	31	18594	23	2									
AMPD3	272	broad.mit.edu	37	11	10514962	10514962	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr11:10514962A>T	uc001min.1	+	6	1378	c.1033A>T	c.(1033-1035)Aca>Tca	p.T345S	AMPD3_uc010rbz.1_Missense_Mutation_p.T177S|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.T336S|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.T343S|AMPD3_uc009yfy.2_Missense_Mutation_p.T336S	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	336					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CATCAAGCACACATACCAGAC	0.612													T	10514962	A	T	10514962	3	4	265	1	0	0	0	0	1	0	0	0	587	159	6	5	1079	5	AMPD3	11	10514962	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		10514962	124491554	32	18595											
VWA5A	4013	broad.mit.edu	37	11	124007318	124007318	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr11:124007318C>G	uc001pzu.3	+	13	1771	c.1562C>G	c.(1561-1563)aCa>aGa	p.T521R	VWA5A_uc001pzt.3_Missense_Mutation_p.T521R	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	521										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTCAAATATACACTCCAGGGC	0.428													G	124007318	C	G	124007318	3	3	265	1	0	0	0	0	1	0	0	0	17239	478	17	5	1612	5	VWA5A	11	124007318	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	113492356	124007318	10999198	33	18596											
DYRK4	8798	broad.mit.edu	37	12	4721722	4721722	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:4721722C>T	uc009zeh.1	+	13	1546	c.1504C>T	c.(1504-1506)Ctt>Ttt	p.L502F	DYRK4_uc001qmx.3_Missense_Mutation_p.L387F|DYRK4_uc001qmy.2_Missense_Mutation_p.L387F|DYRK4_uc021qtq.1_Missense_Mutation_p.L241F|DYRK4_uc001qmz.2_Missense_Mutation_p.L101F|DYRK4_uc001qna.2_Missense_Mutation_p.L24F|DYRK4_uc010ser.2_Missense_Mutation_p.L24F	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	387						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGAACCTTCTCTTCGCATGAC	0.448													T	4721722	C	T	4721722	3	4	265	1	0	0	0	0	1	0	0	0	4858	913	32	3	1197	3	DYRK4	12	4721722	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		4721722	129130173	34	18597											
ABCC9	10060	broad.mit.edu	37	12	21997717	21997717	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:21997717T>C	uc001rfh.3	-	24	3249	c.3229A>G	c.(3229-3231)Atc>Gtc	p.I1077V	ABCC9_uc001rfi.1_Missense_Mutation_p.I1077V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1077	ABC transmembrane type-1 2.				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			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)	GGTCCAAGGATTATCTTATTG	0.368													C	21997717	T	C	21997717	3	2	265	1	0	0	0	0	1	0	0	0	59	1493	52	4	1618	4	ABCC9	12	21997717	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	17275995	21997717	111854178	35	18598											
HOXC11	3227	broad.mit.edu	37	12	54367099	54367099	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:54367099G>A	uc001sem.3	+	0	190	c.74G>A	c.(73-75)cGa>cAa	p.R25Q		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	25					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						TTCGGCGAGCGAGGGAGCTGC	0.617			T	NUP98	AML								A	54367099	G	A	54367099	3	1	265	1	0	0	0	0	1	0	0	0	7310	1058	37	2	76	2	HOXC11	12	54367099	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	32369382	54367099	79484796	36	18599											
TMTC2	160335	broad.mit.edu	37	12	83289748	83289748	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:83289748G>A	uc001szt.3	+	2	1238	c.806G>A	c.(805-807)cGc>cAc	p.R269H	TMTC2_uc001szr.1_Missense_Mutation_p.R269H|TMTC2_uc001szs.1_Missense_Mutation_p.R269H|TMTC2_uc010suk.2_Missense_Mutation_p.R24H	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	269						endoplasmic reticulum|integral to membrane	binding	p.R269S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCCTCACCCGCACTCTCACC	0.527													A	83289748	G	A	83289748	3	1	265	1	0	0	0	0	1	0	0	0	16258	1087	38	1	816	1	TMTC2	12	83289748	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	28922649	83289748	50562147	37	18600											
HNF1A	6927	broad.mit.edu	37	12	121437175	121437175	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:121437175C>T	uc001tzg.3	+	7	1629	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	HNF1A_uc010szn.2_Missense_Mutation_p.L536F|HNF1A_uc021rfa.1_Missense_Mutation_p.L536F|HNF1A_uc021rfb.1_Missense_Mutation_p.L408F|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	536					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGGCCAGCCTCACGCCCAC	0.672									Hepatic Adenoma, Familial Clustering of				T	121437175	C	T	121437175	3	4	265	1	0	0	0	0	1	0	0	0	7251	681	24	3	1636	3	HNF1A	12	121437175	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	38147427	121437175	12414720	38	18601											
DZIP1	22873	broad.mit.edu	37	13	96234520	96234520	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr13:96234520C>T	uc001vmk.3	-	22	3424	c.2572G>A	c.(2572-2574)Gtg>Atg	p.V858M	DZIP1_uc001vmj.3_Missense_Mutation_p.V334M|DZIP1_uc001vml.3_Missense_Mutation_p.V839M|DZIP1_uc001vmm.3_Non-coding_Transcript	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	858					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			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)			CAATCAGTCACAGTTACTAAG	0.408													T	96234520	C	T	96234520	3	4	265	1	0	0	0	0	1	0	0	0	4863	478	17	3	35	3	DZIP1	13	96234520	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		96234520	18935358	39	18602											
OR4K5	79317	broad.mit.edu	37	14	20388930	20388930	+	Silent	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:20388930G>T	uc010tkw.2	+	0	165	c.165G>T	c.(163-165)ctG>ctT	p.L55L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		ATACCAGCCTGCACTCCCCTA	0.408													T	20388930	G	T	20388930	2	4	265	1	0	0	0	0	0	0	0	1	11073	1306	46	5		5	OR4K5	14	20388930	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08		20388930	86960610	40	18603											
ZFYVE26	23503	broad.mit.edu	37	14	68274502	68274502	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:68274502G>A	uc001xka.2	-	4	638	c.499C>T	c.(499-501)Cca>Tca	p.P167S	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P167S|ZFYVE26_uc010tta.2_Missense_Mutation_p.P167S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	167					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCTGTGCTGGCTGGGGAGAC	0.607													A	68274502	G	A	68274502	3	1	265	1	0	0	0	0	1	0	0	0	17665	1203	42	3	7272	3	ZFYVE26	14	68274502	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	47885572	68274502	39075038	41	18604											
PSEN1	5663	broad.mit.edu	37	14	73678621	73678621	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:73678621G>C	uc001xnr.3	+	9	1384	c.1100G>C	c.(1099-1101)aGt>aCt	p.S367T	PSEN1_uc001xnv.3_Missense_Mutation_p.S363T|PSEN1_uc010ark.3_Missense_Mutation_p.S363T|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript	NM_000021	NP_000012	P49768	PSN1_HUMAN	Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.	367	Required for interaction with CTNNB1.				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTTCCAGCAGTATCCTCGCT	0.493													C	73678621	G	C	73678621	3	2	265	1	0	0	0	0	1	0	0	0	12650	1029	36	5	1130	5	PSEN1	14	73678621	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	5404119	73678621	33670919	42	18605											
NOX5	79400	broad.mit.edu	37	15	69328195	69328195	+	Silent	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr15:69328195G>A	uc002ars.2	+	6	1148	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.P323P|NOX5_uc002arp.2_Silent_p.P351P|NOX5_uc010bid.2_Silent_p.P334P|NOX5_uc010bie.2_Silent_p.P169P|NOX5_uc002arr.2_Silent_p.P341P|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	369	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.P351P(1)|p.S369S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CGGCCTCCCCGACAGGTGTCG	0.632													A	69328195	G	A	69328195	2	1	265	1	0	0	0	0	0	0	0	1	10559	1045	37	2		2	NOX5	15	69328195	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08		69328195	33203197	43	18606											
OTOA	146183	broad.mit.edu	37	16	21726417	21726417	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr16:21726417G>A	uc002djh.3	+	12	1433	c.1432G>A	c.(1432-1434)Gtc>Atc	p.V478I	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.V399I|OTOA_uc002dji.3_Missense_Mutation_p.V154I|OTOA_uc010vbk.2_Missense_Mutation_p.V126I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	492					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.V478I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGAAGTGCCGTCTCCCAGTA	0.577													A	21726417	G	A	21726417	3	1	265	1	0	0	0	0	1	0	0	0	11302	1145	40	1	1528	1	OTOA	16	21726417	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		21726417	68628336	44	18607											
HERPUD1	9709	broad.mit.edu	37	16	56970643	56970643	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr16:56970643G>C	uc002eke.1	+	3	754	c.345G>C	c.(343-345)caG>caC	p.Q115H	HERPUD1_uc010vhj.1_Missense_Mutation_p.Q176H|HERPUD1_uc002ekf.1_Missense_Mutation_p.Q114H|HERPUD1_uc002ekg.1_Missense_Mutation_p.Q90H|HERPUD1_uc010cco.1_Missense_Mutation_p.Q176H|HERPUD1_uc010ccp.1_Missense_Mutation_p.Q175H|HERPUD1_uc002ekh.1_5'UTR	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	115						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						ATCGGGGACAGTATCCTGAGG	0.448			T	ERG	prostate								C	56970643	G	C	56970643	3	2	265	1	0	0	0	0	1	0	0	0	7063	1020	36	5	359	5	HERPUD1	16	56970643	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	35244226	56970643	33384110	45	18608											
ANKFY1	51479	broad.mit.edu	37	17	4084568	4084568	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:4084568C>T	uc002fxn.3	-	15	2464	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	ANKFY1_uc002fxo.3_Missense_Mutation_p.A742T|ANKFY1_uc002fxp.3_Missense_Mutation_p.A740T|ANKFY1_uc010ckp.3_Missense_Mutation_p.A683T|ANKFY1_uc002fxq.1_Missense_Mutation_p.A741T	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	741						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGAAAGCAGGCGGTGGGCTCG	0.522													T	4084568	C	T	4084568	3	4	265	1	0	0	0	0	1	0	0	0	626	768	27	1	1328	1	ANKFY1	17	4084568	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		4084568	77110642	46	18609											
USP6	9098	broad.mit.edu	37	17	5037255	5037255	+	Missense_Mutation	SNP	G	G	A	rs138849740	byFrequency	TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:5037255G>A	uc002gau.1	+	14	2688	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	USP6_uc002gav.1_Missense_Mutation_p.R153Q|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.R214Q|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	153	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACGACTCTCCGGAACCATGTC	0.562			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								A	5037255	G	A	5037255	3	1	265	1	0	0	0	0	1	0	0	0	17083	1116	39	2	480	2	USP6	17	5037255	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	952687	5037255	76157955	47	18610											
MYH13	8735	broad.mit.edu	37	17	10250061	10250061	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:10250061C>T	uc002gmk.1	-	12	1289	c.1199G>A	c.(1198-1200)gGc>gAc	p.G400D	MYH13_uc010vvf.1_Missense_Mutation_p.G75D	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	400	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGCACAGGCCCTTCAGCAT	0.458													T	10250061	C	T	10250061	3	4	265	1	0	0	0	0	1	0	0	0	10032	739	26	3	4733	3	MYH13	17	10250061	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	5212806	10250061	70945149	48	18611											
KIF2B	84643	broad.mit.edu	37	17	51900577	51900577	+	Silent	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:51900577G>T	uc002iua.2	+	0	339	c.183G>T	c.(181-183)gtG>gtT	p.V61V		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	61					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.W60L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAGAGTGGGTGGAGAAAGCAG	0.557													T	51900577	G	T	51900577	2	4	265	1	0	0	0	0	0	0	0	1	8298	1335	47	5		5	KIF2B	17	51900577	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08	41650516	51900577	29294633	49	18612	24	2									
KIF2B	84643	broad.mit.edu	37	17	51900579	51900579	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:51900579A>G	uc002iua.2	+	0	341	c.185A>G	c.(184-186)gAg>gGg	p.E62G		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	62					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTGGGTGGAGAAAGCAGTC	0.552													G	51900579	A	G	51900579	3	3	265	1	0	0	0	0	1	0	0	0	8298	304	11	4	187	4	KIF2B	17	51900579	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08	2	51900579	29294631	50	18613	24	2									
GRIN2C	2905	broad.mit.edu	37	17	72845978	72845978	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:72845978G>A	uc002jlt.1	-	6	1742	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.T529M	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	529					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACTGATGCCCGTCTCCACAAA	0.627													A	72845978	G	A	72845978	3	1	265	1	0	0	0	0	1	0	0	0	6781	1145	40	1	2143	1	GRIN2C	17	72845978	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	20945399	72845978	8349232	51	18614											
MC5R	4161	broad.mit.edu	37	18	13826125	13826125	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr18:13826125A>G	uc010xaf.2	+	0	583	c.361A>G	c.(361-363)Atg>Gtg	p.M121V		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	121					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTTTGACTCCATGATCTGCAT	0.517													G	13826125	A	G	13826125	3	3	265	1	0	0	0	0	1	0	0	0	9367	217	8	4	363	4	MC5R	18	13826125	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		13826125	64251123	52	18615											
MAN2B1	4125	broad.mit.edu	37	19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:12769127C>T	uc002mub.2	-	8	1217	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_uc010dyv.1_Missense_Mutation_p.A380T	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	381					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCCATCCGCGTAAGGGAAG	0.617													T	12769127	C	T	12769127	3	4	265	1	0	0	0	0	1	0	0	0	9216	768	27	1	1958	1	MAN2B1	19	12769127	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		12769127	46359856	53	18616											
NLRP5	126206	broad.mit.edu	37	19	56565093	56565093	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:56565093C>T	uc002qmj.3	+	12	3218	c.3218C>T	c.(3217-3219)aCg>aTg	p.T1073M	NLRP5_uc002qmi.3_Missense_Mutation_p.T1054M	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1073						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGGATCTCACGGACAATGCC	0.587													T	56565093	C	T	56565093	3	4	265	1	0	0	0	0	1	0	0	0	10480	536	19	1	3268	1	NLRP5	19	56565093	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	43795966	56565093	2563890	54	18617											
TNNC2	7125	broad.mit.edu	37	20	44453472	44453472	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr20:44453472G>A	uc002xpr.3	-	2	70	c.4_splice	c.e2-1	p.T2_splice		NM_003279	NP_003270	P02585	TNNC2_HUMAN	Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA.	2				TD -> DT (in Ref. 6; AA sequence).	muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CTGCTGGTCCGTCTGCAGGAG	0.612													A	44453472	G	A	44453472	3	1	265	1	0	0	0	0	1	0	0	0	16322	1159	40	1	497	1	TNNC2	20	44453472	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		44453472	18572048	55	18618											
MXRA5	25878	broad.mit.edu	37	X	3240193	3240193	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:3240193T>C	uc004crg.4	-	4	3690	c.3533A>G	c.(3532-3534)gAg>gGg	p.E1178G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1178						extracellular region		p.E1178D(1)		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)				AGAAAAAGTCTCTGATGGGGC	0.488													C	3240193	T	C	3240193	3	2	265	1	0	0	0	0	1	0	0	0	10003	1551	54	4	4965	4	MXRA5	23	3240193	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08		3240193	152030367	56	18619											
RAI2	10742	broad.mit.edu	37	X	17818870	17818870	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:17818870C>T	uc022btm.1	-	0	1261	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	RAI2_uc004cyf.3_Missense_Mutation_p.E421K|RAI2_uc004cyg.3_Missense_Mutation_p.E421K|RAI2_uc011miy.2_Missense_Mutation_p.E371K|RAI2_uc022btl.1_Missense_Mutation_p.E421K|RAI2_uc004cyh.4_Missense_Mutation_p.E421K|RAI2_uc010nfa.3_Missense_Mutation_p.E421K	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	421					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCTTGACTTCGCCGCTGGGG	0.567													T	17818870	C	T	17818870	3	4	265	1	0	0	0	0	1	0	0	0	13009	893	31	2	335	2	RAI2	23	17818870	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	14578677	17818870	137451690	57	18620											
KLHL34	257240	broad.mit.edu	37	X	21675213	21675213	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:21675213C>G	uc004czz.1	-	0	1236	c.694G>C	c.(694-696)Gta>Cta	p.V232L		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	232	BACK.							p.D231D(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGCCGCAGTACGTCGGCGGGA	0.667													G	21675213	C	G	21675213	3	3	265	1	0	0	0	0	1	0	0	0	8387	536	19	5	1244	5	KLHL34	23	21675213	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	3856343	21675213	133595347	58	18621											
DUSP21	63904	broad.mit.edu	37	X	44703624	44703624	+	Silent	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:44703624C>T	uc004dgd.3	+	0	376	c.246C>T	c.(244-246)taC>taT	p.Y82Y		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.	82	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Y82Y(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGCGTCTCTACGACTTTTTTG	0.542													T	44703624	C	T	44703624	2	4	265	1	0	0	0	0	0	0	0	1	4820	547	19	1		1	DUSP21	23	44703624	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	23028411	44703624	110566936	59	18622											
EDA2R	60401	broad.mit.edu	37	X	65819404	65819404	+	Silent	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:65819404C>T	uc004dwt.2	-	5	889	c.879G>A	c.(877-879)gaG>gaA	p.E293E	EDA2R_uc004dwr.3_Intron|EDA2R_uc004dws.3_Silent_p.E272E|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Silent_p.E148E|EDA2R_uc004dwq.3_Silent_p.E272E|EDA2R_uc022byh.1_Silent_p.E274E	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN	Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.	272					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.E293E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCCCCAAGGTCTCAGCTCCAG	0.547													T	65819404	C	T	65819404	2	4	265	1	0	0	0	0	0	0	0	1	4904	912	32	3		3	EDA2R	23	65819404	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	21115780	65819404	89451156	60	18623											
PCDH11X	27328	broad.mit.edu	37	X	91873723	91873723	+	Silent	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:91873723C>A	uc004efk.2	+	6	4673	c.3828C>A	c.(3826-3828)gtC>gtA	p.V1276V	PCDH11X_uc004efl.2_Silent_p.V1266V|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Silent_p.V1268V|PCDH11X_uc004efn.2_Silent_p.V1258V|PCDH11X_uc004efo.2_Silent_p.V1239V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1276					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.V1276V(2)|p.S1275*(1)		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						AATCATCAGTCAGTTTGCAGC	0.517													A	91873723	C	A	91873723	2	1	265	1	0	0	0	0	0	0	0	1	11508	813	29	5		5	PCDH11X	23	91873723	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	26054319	91873723	63396837	61	18624											
CSTF2	1478	broad.mit.edu	37	X	100075435	100075435	+	Silent	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:100075435G>T	uc004egh.3	+	0	88	c.30G>T	c.(28-30)gcG>gcT	p.A10A	CSTF2_uc010nnd.3_Silent_p.A10A|CSTF2_uc004egi.3_Silent_p.A10A	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	10					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GAGACCCAGCGGTGGATCGTT	0.562													T	100075435	G	T	100075435	2	4	265	1	0	0	0	0	0	0	0	1	3984	1103	39	5		5	CSTF2	23	100075435	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08	8201712	100075435	55195125	62	18625											
TEX13B	56156	broad.mit.edu	37	X	107224498	107224498	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:107224498C>G	uc004enn.1	-	2	844	c.751G>C	c.(751-753)Gtc>Ctc	p.V251L		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	251										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGAAGACAGACATGGCTGTTT	0.552													G	107224498	C	G	107224498	3	3	265	1	0	0	0	0	1	0	0	0	15774	478	17	5	191	5	TEX13B	23	107224498	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	7149063	107224498	48046062	63	18626											
TRPC5	7224	broad.mit.edu	37	X	111020072	111020072	+	Silent	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:111020072G>A	uc004epl.1	-	10	3310	c.2391C>T	c.(2389-2391)gtC>gtT	p.V797V		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	797					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			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						AATTAAAAGAGACACTCTTGG	0.483													A	111020072	G	A	111020072	2	1	265	1	0	0	0	0	0	0	0	1	16579	929	33	3		3	TRPC5	23	111020072	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08	3795574	111020072	44250488	64	18627											
AFF2	2334	broad.mit.edu	37	X	148059892	148059892	+	Silent	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:148059892C>T	uc004fcp.3	+	18	3956	c.3477_splice	c.e18-1	p.C1159_splice	AFF2_uc004fcq.3_Splice_Site_p.C1149_splice|AFF2_uc004fcr.3_Splice_Site_p.C1120_splice|AFF2_uc011mxb.2_Splice_Site_p.C1124_splice|AFF2_uc004fcs.3_Splice_Site_p.C1124_splice|AFF2_uc011mxc.2_Splice_Site_p.C800_splice	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1159					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATCACCACAGCTACCGATGTT	0.378													T	148059892	C	T	148059892	2	4	265	1	0	0	0	0	0	0	0	1	357	811	28	3		3	AFF2	23	148059892	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	37039820	148059892	7210668	65	18628											
MTMR1	8776	broad.mit.edu	37	X	149931076	149931076	+	Silent	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:149931076C>A	uc004feh.1	+	15	2031	c.1896C>A	c.(1894-1896)gtC>gtA	p.V632V	MTMR1_uc011mya.1_Silent_p.V530V|MTMR1_uc004fei.3_Silent_p.V624V|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	624						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGCCGTCAGGGCGGAGC	0.627													A	149931076	C	A	149931076	2	1	265	1	0	0	0	0	0	0	0	1	9938	813	29	5		5	MTMR1	23	149931076	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	1871184	149931076	5339484	66	18629											
ABCD1	215	broad.mit.edu	37	X	153008746	153008746	+	Missense_Mutation	SNP	C	C	T	rs74315282		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:153008746C>T	uc004fif.2	+	8	2336	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V		NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	646	ABC transporter.		A -> P (in X-ALD).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	p.Q645Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTCCAGGCGGCCAAGGAC	0.672													T	153008746	C	T	153008746	3	4	265	1	0	0	0	0	1	0	0	0	60	768	27	1	1971	1	ABCD1	23	153008746	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	3077670	153008746	2261814	67	18630											
GJA5	2702	broad.mit.edu	37	1	147230396	147230396	+	Silent	SNP	A	A	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:147230396A>G	uc021ovl.1	-	0	951	c.951T>C	c.(949-951)taT>taC	p.Y317Y	GJA5_uc001eps.1_Silent_p.Y317Y|GJA5_uc001ept.1_Silent_p.Y317Y	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	317					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R316C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GCTTCTGGCCATAACGAACCT	0.542													G	147230396	A	G	147230396	2	3	266	1	0	0	0	0	0	0	0	1	6404	224	8	4		4	GJA5	1	147230396	Silent	SNP	A	TCGA-76-6191-01A-12D-1696-08		147230396	102020225	1	18631											
KPRP	448834	broad.mit.edu	37	1	152732251	152732251	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:152732251G>A	uc001fal.1	+	1	245	c.187G>A	c.(187-189)Gct>Act	p.A63T	KPRP_uc021ozf.1_Missense_Mutation_p.A63T	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	63	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCAGACCAGGCTCCATGCCA	0.552													A	152732251	G	A	152732251	3	1	266	1	0	0	0	0	1	0	0	0	8436	1203	42	3	189	3	KPRP	1	152732251	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	5501855	152732251	96518370	2	18632											
METTL13	51603	broad.mit.edu	37	1	171765699	171765699	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:171765699C>A	uc001ghz.3	+	7	2250	c.1903C>A	c.(1903-1905)Ccc>Acc	p.P635T	METTL13_uc001gia.3_Missense_Mutation_p.P549T|METTL13_uc001gib.3_Missense_Mutation_p.P479T|METTL13_uc010pml.2_Missense_Mutation_p.P634T|METTL13_uc001gic.1_Non-coding_Transcript	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.	635							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGCAGTGTTCCCCCTCCTATA	0.498													A	171765699	C	A	171765699	3	1	266	1	0	0	0	0	1	0	0	0	9497	623	22	5	1933	5	METTL13	1	171765699	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	19033448	171765699	77484922	3	18633											
TPR	7175	broad.mit.edu	37	1	186289465	186289465	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:186289465C>T	uc001grv.3	-	45	6844	c.6547G>A	c.(6547-6549)Ggc>Agc	p.G2183S	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2183					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAAGCTGGCCAAGATCAGAG	0.418			T	NTRK1	papillary thyroid								T	186289465	C	T	186289465	3	4	266	1	0	0	0	0	1	0	0	0	16413	594	21	3	568	3	TPR	1	186289465	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	14523766	186289465	62961156	4	18634											
KCNJ3	3760	broad.mit.edu	37	2	155711520	155711520	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:155711520T>A	uc002tyv.1	+	2	1396	c.1201T>A	c.(1201-1203)Tct>Act	p.S401T	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	401					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAAACTACCATCTAAGCTGCA	0.398													A	155711520	T	A	155711520	3	1	266	1	0	0	0	0	1	0	0	0	8052	1435	50	5	1211	5	KCNJ3	2	155711520	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08		155711520	87487853	5	18635											
LRP2	4036	broad.mit.edu	37	2	170003375	170003375	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:170003375C>A	uc002ues.3	-	68	12898	c.12685G>T	c.(12685-12687)Ggt>Tgt	p.G4229C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4229					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTGGCCAACCAAGGTCCTCG	0.448													A	170003375	C	A	170003375	3	1	266	1	0	0	0	0	1	0	0	0	8956	594	21	5	1326	5	LRP2	2	170003375	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	14291855	170003375	73195998	6	18636											
TTC30A	92104	broad.mit.edu	37	2	178482747	178482747	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:178482747C>T	uc002ulo.3	-	0	948	c.683G>A	c.(682-684)gGc>gAc	p.G228D		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	228					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTGGTCATGCCCACACCTAG	0.527													T	178482747	C	T	178482747	3	4	266	1	0	0	0	0	1	0	0	0	16695	739	26	3	1318	3	TTC30A	2	178482747	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	8479372	178482747	64716626	7	18637											
PLCL2	23228	broad.mit.edu	37	3	17053527	17053527	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:17053527A>G	uc011awc.2	+	2	2761	c.2665A>G	c.(2665-2667)Aga>Gga	p.R889G	PLCL2_uc011awd.2_Missense_Mutation_p.R771G	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	897					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCTTTCTGTGAGAAAAGGGAA	0.463													G	17053527	A	G	17053527	3	3	266	1	0	0	0	0	1	0	0	0	12040	296	11	4	2689	4	PLCL2	3	17053527	Missense_Mutation	SNP	A	TCGA-76-6191-01A-12D-1696-08		17053527	180968903	8	18638											
TRAK1	22906	broad.mit.edu	37	3	42167078	42167078	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:42167078G>A	uc003cky.3	+	1	474	c.258G>A	c.(256-258)gaG>gaA	p.E86E	TRAK1_uc011azh.2_Silent_p.E86E|TRAK1_uc011azi.2_Silent_p.E86E	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	86	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCACAACCGAGCAAATTGAAG	0.443													A	42167078	G	A	42167078	2	1	266	1	0	0	0	0	0	0	0	1	16446	962	34	3		3	TRAK1	3	42167078	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	25113551	42167078	155855352	9	18639											
OR5H1	26341	broad.mit.edu	37	3	97852415	97852415	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:97852415C>T	uc011bgt.2	+	0	874	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCTACAGTCTGAGAAATAA	0.348													T	97852415	C	T	97852415	2	4	266	1	0	0	0	0	0	0	0	1	11159	912	32	3		3	OR5H1	3	97852415	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08	55685337	97852415	100170015	10	18640											
OR5K1	26339	broad.mit.edu	37	3	98189045	98189045	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:98189045T>A	uc003dsm.3	+	0	625	c.625T>A	c.(625-627)Ttt>Att	p.F209I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTTCAAGTCTTTACCATAGG	0.353													A	98189045	T	A	98189045	3	1	266	1	0	0	0	0	1	0	0	0	11166	1609	56	5	627	5	OR5K1	3	98189045	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	336630	98189045	99833385	11	18641											
EHHADH	1962	broad.mit.edu	37	3	184910535	184910535	+	Nonsense_Mutation	SNP	G	G	A	rs138388673	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:184910535G>A	uc003fpf.3	-	6	1727	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	EHHADH_uc011brs.2_Nonsense_Mutation_p.R455*	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	551	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CCCCTTTTTCGGGCAGGAGTT	0.473													A	184910535	G	A	184910535	4	1	266	1	0	0	0	0	0	1	0	0	4982	1124	39	2	524	2	EHHADH	3	184910535	Nonsense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	86721490	184910535	13111895	12	18642											
RGS12	6002	broad.mit.edu	37	4	3319669	3319669	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:3319669C>T	uc003ggw.3	+	1	2676	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	RGS12_uc003ggu.2_Missense_Mutation_p.A591V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.A591V|RGS12_uc003ggx.1_Missense_Mutation_p.A591V	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	591						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCAGCTTCGCGCAGCCCCCG	0.577													T	3319669	C	T	3319669	3	4	266	1	0	0	0	0	1	0	0	0	13295	768	27	1	1774	1	RGS12	4	3319669	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		3319669	187834607	13	18643											
AFM	173	broad.mit.edu	37	4	74367504	74367504	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:74367504G>C	uc003hhb.3	+	13	1678	c.1647_splice	c.e13-1	p.R549_splice		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	549	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGCCACAGGTTTCTTGTCA	0.388													C	74367504	G	C	74367504	3	2	266	1	0	0	0	0	1	0	0	0	361	1275	44	5	1697	5	AFM	4	74367504	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	71047835	74367504	116786772	14	18644											
RXFP1	59350	broad.mit.edu	37	4	159554592	159554592	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:159554592C>T	uc003ipz.3	+	11	1198	c.935C>T	c.(934-936)cCg>cTg	p.P312L	RXFP1_uc010iqj.2_Missense_Mutation_p.P141L|RXFP1_uc010iqk.3_Missense_Mutation_p.P180L|RXFP1_uc011cja.2_Missense_Mutation_p.P207L|RXFP1_uc010iqo.3_Intron|RXFP1_uc011cjb.2_Intron|RXFP1_uc011cjc.2_Missense_Mutation_p.P231L|RXFP1_uc011cjd.2_Missense_Mutation_p.P231L|RXFP1_uc010iql.3_Missense_Mutation_p.P156L|RXFP1_uc011cje.2_Missense_Mutation_p.P339L|RXFP1_uc010iqm.3_Missense_Mutation_p.P279L|RXFP1_uc011cjf.2_Missense_Mutation_p.P182L|RXFP1_uc010iqn.3_Missense_Mutation_p.P258L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	312						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATCTTCCACCGCTTATATTC	0.289													T	159554592	C	T	159554592	3	4	266	1	0	0	0	0	1	0	0	0	13759	652	23	2	981	2	RXFP1	4	159554592	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	85187088	159554592	31599684	15	18645											
SPOCK3	50859	broad.mit.edu	37	4	167663205	167663205	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:167663205G>T	uc011cjq.1	-	7	1030	c.973C>A	c.(973-975)Cct>Act	p.P325T	SPOCK3_uc021xuf.1_Missense_Mutation_p.P316T|SPOCK3_uc011cjr.1_Missense_Mutation_p.P196T|SPOCK3_uc003iri.1_Missense_Mutation_p.P316T|SPOCK3_uc011cjs.1_Missense_Mutation_p.P265T|SPOCK3_uc003irj.1_Missense_Mutation_p.P313T|SPOCK3_uc011cjt.1_Missense_Mutation_p.P224T|SPOCK3_uc011cjp.2_Missense_Mutation_p.P273T|SPOCK3_uc011cju.1_Missense_Mutation_p.P220T|SPOCK3_uc011cjv.1_Missense_Mutation_p.P218T	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	316	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)		GTCTGGCAAGGTGGGTCTGCA	0.373													T	167663205	G	T	167663205	3	4	266	1	0	0	0	0	1	0	0	0	15080	1261	44	5	376	5	SPOCK3	4	167663205	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	8108613	167663205	23491071	16	18646											
NMUR2	56923	broad.mit.edu	37	5	151775094	151775094	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr5:151775094C>T	uc003luv.2	-	2	1029	c.863G>A	c.(862-864)cGa>cAa	p.R288Q		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	288					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.R288R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGAAGAGTCGGTCAATGTG	0.483													T	151775094	C	T	151775094	3	4	266	1	0	0	0	0	1	0	0	0	10507	884	31	2	392	2	NMUR2	5	151775094	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		151775094	29140166	17	18647											
DDAH2	23564	broad.mit.edu	37	6	31696723	31696723	+	Silent	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:31696723T>C	uc003nwp.3	-	0	847	c.216A>G	c.(214-216)ggA>ggG	p.G72G	DDAH2_uc003nwq.3_Silent_p.G72G	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	72					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CAAGCAGCGGTCCCAGCGGCA	0.662													C	31696723	T	C	31696723	2	2	266	1	0	0	0	0	0	0	0	1	4322	1654	58	4		4	DDAH2	6	31696723	Silent	SNP	T	TCGA-76-6191-01A-12D-1696-08		31696723	139418344	18	18648											
LPA	4018	broad.mit.edu	37	6	161007524	161007524	+	Silent	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:161007524G>T	uc003qtl.3	-	25	4206	c.4086C>A	c.(4084-4086)ccC>ccA	p.P1362P		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3870	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGACCACCGTGGGAGTTGTGA	0.498													T	161007524	G	T	161007524	2	4	266	1	0	0	0	0	0	0	0	1	8903	1335	47	5		5	LPA	6	161007524	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	129310801	161007524	10107543	19	18649											
CCR6	1235	broad.mit.edu	37	6	167549965	167549965	+	Missense_Mutation	SNP	G	G	A	rs76452893	by1000genomes	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:167549965G>A	uc003qvl.3	+	12	2723	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	CCR6_uc010kkm.3_Missense_Mutation_p.V83I|CCR6_uc003qvn.4_Missense_Mutation_p.V83I|CCR6_uc003qvm.4_Missense_Mutation_p.V83I	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	83					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TATGACAGACGTCTATCTCTT	0.488													A	167549965	G	A	167549965	3	1	266	1	0	0	0	0	1	0	0	0	2945	1145	40	1	253	1	CCR6	6	167549965	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	6542441	167549965	3565102	20	18650											
USP42	84132	broad.mit.edu	37	7	6189342	6189342	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:6189342G>T	uc011jwo.1	+	12	1638	c.1515G>T	c.(1513-1515)tgG>tgT	p.W505C	USP42_uc010kth.1_Missense_Mutation_p.W438C|USP42_uc011jwp.2_Missense_Mutation_p.W505C|USP42_uc011jwq.2_Missense_Mutation_p.W312C|USP42_uc011jwr.1_Missense_Mutation_p.W350C	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	505					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCCAAAACTGGTCAGTTAATA	0.443													T	6189342	G	T	6189342	3	4	266	1	0	0	0	0	1	0	0	0	17070	1270	44	5	1561	5	USP42	7	6189342	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		6189342	152949321	21	18651											
SKAP2	8935	broad.mit.edu	37	7	26779515	26779515	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:26779515G>A	uc003syc.3	-	4	669	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.R111C	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	126	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.R126C(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CCTTTTCTGCGTTTTTCAAGG	0.373													A	26779515	G	A	26779515	3	1	266	1	0	0	0	0	1	0	0	0	14356	1145	40	1	735	1	SKAP2	7	26779515	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	20590173	26779515	132359148	22	18652											
EGFR	1956	broad.mit.edu	37	7	55233110	55233110	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:55233110C>G	uc003tqk.3	+	14	2106	c.1860C>G	c.(1858-1860)tgC>tgG	p.C620W	EGFR_uc003tqi.3_Missense_Mutation_p.C620W|EGFR_uc003tqj.3_Missense_Mutation_p.C620W|EGFR_uc022adm.1_Missense_Mutation_p.C620W|EGFR_uc010kzg.2_Missense_Mutation_p.C575W|EGFR_uc022adn.1_Missense_Mutation_p.C575W|EGFR_uc011kco.2_Missense_Mutation_p.C567W|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	620					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C620W(2)|p.C620Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCCACCTGTGCCATCCAAACT	0.542		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55233110	C	G	55233110	3	3	266	1	0	0	0	0	1	0	0	0	4967	747	26	5	1929	5	EGFR	7	55233110	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	28453595	55233110	103905553	23	18653											
CCDC132	55610	broad.mit.edu	37	7	92932809	92932809	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:92932809G>C	uc003umo.3	+	16	1527	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	CCDC132_uc003ump.3_Missense_Mutation_p.E437Q|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.E187Q	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	467										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTAGAGAATGAGACTTGGGA	0.343													C	92932809	G	C	92932809	3	2	266	1	0	0	0	0	1	0	0	0	2767	1291	45	5	1507	5	CCDC132	7	92932809	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	37699699	92932809	66205854	24	18654											
TRRAP	8295	broad.mit.edu	37	7	98547126	98547126	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:98547126G>A	uc003upp.3	+	34	5063	c.4854G>A	c.(4852-4854)ggG>ggA	p.G1618G	TRRAP_uc011kis.2_Silent_p.G1600G|TRRAP_uc003upr.3_Silent_p.G1317G	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1618					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTGCCGGGGGGTGCCCAGA	0.617													A	98547126	G	A	98547126	2	1	266	1	0	0	0	0	0	0	0	1	16598	1219	43	3		3	TRRAP	7	98547126	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	5614317	98547126	60591537	25	18655											
CUL1	8454	broad.mit.edu	37	7	148495685	148495685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:148495685delC	uc010lpg.3	+	19	2578	c.2052delC	c.(2050-2052)atcfs	p.I684fs	CUL1_uc003wey.3_Frame_Shift_Del_p.I684fs|CUL1_uc003wez.3_Frame_Shift_Del_p.I574fs|CUL1_uc003wfa.3_Frame_Shift_Del_p.I345fs	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	684					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGGTTAACATCAATGTGCCAA	0.373													-	148495685	C	-	148495685	7	5	266	1	0	1	0	1	0	0	0	0	4054	816	29	0	2126	0	CUL1	7	148495685	Frame_Shift_Del	DEL	C	TCGA-76-6191-01A-12D-1696-08	49948559	148495685	10642978	26	18656											
SOX7	83595	broad.mit.edu	37	8	10583718	10583718	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:10583718G>A	uc011kwz.2	-	5	886	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	SOX7_uc003wtf.3_Missense_Mutation_p.R233C	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	233	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.S285F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TGGGGGATGCGGCGGGGATGG	0.692													A	10583718	G	A	10583718	3	1	266	1	0	0	0	0	1	0	0	0	14956	1116	39	2	473	2	SOX7	8	10583718	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		10583718	135780304	27	18657											
DOK2	9046	broad.mit.edu	37	8	21767417	21767417	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:21767417C>T	uc003wzx.1	-	4	737	c.644G>A	c.(643-645)cGt>cAt	p.R215H	DOK2_uc003wzy.1_Missense_Mutation_p.R215H|DOK2_uc003wzz.1_Missense_Mutation_p.R61H|DOK2_uc010lth.1_Missense_Mutation_p.R61H	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	215	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.G214F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GACGCAGCGACGGCCTGCCTC	0.522													T	21767417	C	T	21767417	3	4	266	1	0	0	0	0	1	0	0	0	4697	536	19	1	598	1	DOK2	8	21767417	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	11183699	21767417	124596605	28	18658											
KCNU1	157855	broad.mit.edu	37	8	36642023	36642023	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:36642023T>C	uc010lvw.3	+	0	182	c.95T>C	c.(94-96)tTt>tCt	p.F32S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	32						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTCTCTTCCTTTGTGACCTTC	0.413													C	36642023	T	C	36642023	3	2	266	1	0	0	0	0	1	0	0	0	8093	1841	64	4	97	4	KCNU1	8	36642023	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	14874606	36642023	109721999	29	18659											
ZFAND1	79752	broad.mit.edu	37	8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:82626245G>A	uc003ycj.2	-	5	411	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_uc010lzx.2_Nonsense_Mutation_p.R130*|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Nonsense_Mutation_p.R23*|ZFAND1_uc003yck.2_Nonsense_Mutation_p.R23*|ZFAND1_uc022awv.1_Nonsense_Mutation_p.R130*|ZFAND1_uc022aww.1_Nonsense_Mutation_p.R23*	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.	130							zinc ion binding	p.R130*(6)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343													A	82626245	G	A	82626245	4	1	266	1	0	0	0	0	0	1	0	0	17623	1153	40	1	478	1	ZFAND1	8	82626245	Nonsense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	45984222	82626245	63737777	30	18660											
ANKRD46	157567	broad.mit.edu	37	8	101541822	101541823	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:101541822_101541823delTG	uc003yjo.1	-	3	548_549	c.239_240delCA	c.(238-240)acafs	p.T80fs	ANKRD46_uc003yjm.3_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjn.1_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjp.1_Frame_Shift_Del_p.T80fs	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.	80						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GGTGAAGAGCTGTGTTTCCTTG	0.436													-	101541823	TG	-	101541822	7	5	266	1	0	1	0	1	0	0	0	0	674	1567	55	0	458	0	ANKRD46	8	101541822	Frame_Shift_Del	DEL	TG	TCGA-76-6191-01A-12D-1696-08	18915577	101541822	44822200	31	18661											
GRIN3A	116443	broad.mit.edu	37	9	104335628	104335628	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr9:104335628C>T	uc004bbp.2	-	8	3777	c.3176G>A	c.(3175-3177)cGg>cAg	p.R1059Q	GRIN3A_uc004bbo.2_Missense_Mutation_p.R134Q	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	1059					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.R1059Q(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATTGGTGGTCCGCAAGGCAGG	0.527													T	104335628	C	T	104335628	3	4	266	1	0	0	0	0	1	0	0	0	6783	652	23	2	175	2	GRIN3A	9	104335628	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		104335628	36877803	32	18662											
DBC1	1620	broad.mit.edu	37	9	122000991	122000991	+	Silent	SNP	A	A	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr9:122000991A>G	uc004bkc.2	-	4	1083	c.627T>C	c.(625-627)aaT>aaC	p.N209N	DBC1_uc004bkd.2_Silent_p.N209N	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	209	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CAGAGTCCAGATTGTCATAGC	0.507													G	122000991	A	G	122000991	2	3	266	1	0	0	0	0	0	0	0	1	4247	330	12	4		4	DBC1	9	122000991	Silent	SNP	A	TCGA-76-6191-01A-12D-1696-08	17665363	122000991	19212440	33	18663											
PTEN	5728	broad.mit.edu	37	10	89624299	89624299	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr10:89624299T>G	uc001kfb.3	+	0	1105	c.73T>G	c.(73-75)Ttg>Gtg	p.L25V	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	25	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.D24Y(5)|p.D24G(4)|p.D24E(2)|p.D24N(2)|p.L25F(2)|p.D24_L25del(2)|p.D24fs*19(2)|p.D24fs*20(2)|p.L25fs*28(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CGACTTAGACTTGACCTGTAT	0.463		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89624299	T	G	89624299	3	3	266	1	0	0	0	0	1	0	0	0	12738	1606	56	5	75	5	PTEN	10	89624299	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08		89624299	45910448	34	18664											
TSPAN32	10077	broad.mit.edu	37	11	2334954	2334954	+	Missense_Mutation	SNP	G	G	A	rs138129469		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:2334954G>A	uc001lvy.1	+	4	562	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	TSPAN32_uc001lvx.1_Intron|TSPAN32_uc009ydk.1_Missense_Mutation_p.R152Q|TSPAN32_uc010qxk.2_Missense_Mutation_p.R177Q|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwb.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwc.1_Missense_Mutation_p.R87Q|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	142					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCCCACGTCCGGCGGCAGGAG	0.647													A	2334954	G	A	2334954	3	1	266	1	0	0	0	0	1	0	0	0	16644	1116	39	2	443	2	TSPAN32	11	2334954	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		2334954	132671562	35	18665											
OR52R1	119695	broad.mit.edu	37	11	4825512	4825512	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:4825512C>T	uc021qcs.1	-	0	99	c.99G>A	c.(97-99)ccG>ccA	p.P33P		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TGGCACAGAACGGAAAGGCAA	0.512													T	4825512	C	T	4825512	2	4	266	1	0	0	0	0	0	0	0	1	11131	523	19	1		1	OR52R1	11	4825512	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08	2490558	4825512	130181004	36	18666											
OR5D14	219436	broad.mit.edu	37	11	55563722	55563722	+	Missense_Mutation	SNP	C	C	T	rs143761060		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:55563722C>T	uc010rim.2	+	0	691	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACTAAAAATCCGTTCTGTTAG	0.473													T	55563722	C	T	55563722	3	4	266	1	0	0	0	0	1	0	0	0	11155	652	23	2	693	2	OR5D14	11	55563722	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	50738210	55563722	79442794	37	18667											
MS4A6E	245802	broad.mit.edu	37	11	60102450	60102450	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60102450G>A	uc001npd.3	+	0	96	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	28						integral to membrane	receptor activity	p.E28*(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AGAGAAACCCGAACCCACCAA	0.443													A	60102450	G	A	60102450	3	1	266	1	0	0	0	0	1	0	0	0	9865	1059	37	2	84	2	MS4A6E	11	60102450	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	4538728	60102450	74904066	38	18668											
MS4A14	84689	broad.mit.edu	37	11	60183031	60183031	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60183031C>T	uc001npj.3	+	4	1155	c.590C>T	c.(589-591)gCa>gTa	p.A197V	MS4A14_uc001npi.3_Missense_Mutation_p.A85V|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.A180V|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	197						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAACAAATGCACAATCTGTT	0.378													T	60183031	C	T	60183031	3	4	266	1	0	0	0	0	1	0	0	0	9858	710	25	3	608	3	MS4A14	11	60183031	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	80581	60183031	74823485	39	18669											
MS4A12	54860	broad.mit.edu	37	11	60271232	60271232	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60271232T>C	uc001npr.3	+	4	587	c.530T>C	c.(529-531)aTt>aCt	p.I177T	MS4A12_uc021qkb.1_Missense_Mutation_p.I131T	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	177						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTGGAGTGATTCTGCTGCTG	0.458													C	60271232	T	C	60271232	3	2	266	1	0	0	0	0	1	0	0	0	9856	1493	52	4	544	4	MS4A12	11	60271232	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	88201	60271232	74735284	40	18670											
PPFIA1	8500	broad.mit.edu	37	11	70181755	70181755	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:70181755G>A	uc001opo.3	+	10	1598	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	PPFIA1_uc001opn.2_Silent_p.R461R|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	461					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			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)			CTAATGAGAGGCTTCAACTTC	0.403													A	70181755	G	A	70181755	2	1	266	1	0	0	0	0	0	0	0	1	12309	1194	42	3		3	PPFIA1	11	70181755	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	9910523	70181755	64824761	41	18671											
CADM1	23705	broad.mit.edu	37	11	115111056	115111056	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:115111056T>A	uc001ppi.4	-	1	338	c.209A>T	c.(208-210)gAc>gTc	p.D70V	CADM1_uc001ppf.4_Missense_Mutation_p.D70V|CADM1_uc001ppk.4_Missense_Mutation_p.D70V|CADM1_uc001ppj.4_Missense_Mutation_p.D70V|CADM1_uc001ppl.3_Missense_Mutation_p.D70V	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	70	Ig-like V-type.				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			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)		CACAGAGTCGTCACTCTTATT	0.443													A	115111056	T	A	115111056	3	1	266	1	0	0	0	0	1	0	0	0	2566	1667	58	5	1155	5	CADM1	11	115111056	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	44929301	115111056	19895460	42	18672											
CHEK1	1111	broad.mit.edu	37	11	125503132	125503132	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:125503132A>T	uc009zbo.3	+	5	1396	c.499A>T	c.(499-501)Atg>Ttg	p.M167L	CHEK1_uc010sbi.2_Missense_Mutation_p.M167L|CHEK1_uc010sbh.2_Missense_Mutation_p.M183L|CHEK1_uc001qcf.4_Missense_Mutation_p.M167L|CHEK1_uc009zbp.3_Missense_Mutation_p.M167L|CHEK1_uc001qcg.4_Missense_Mutation_p.M167L	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	167	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.K166N(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTTGAACAAGATGTGTGGTAC	0.378								Other conserved DNA damage response genes					T	125503132	A	T	125503132	3	4	266	1	0	0	0	0	1	0	0	0	3334	333	12	5	517	5	CHEK1	11	125503132	Missense_Mutation	SNP	A	TCGA-76-6191-01A-12D-1696-08	10392076	125503132	9503384	43	18673											
PLCZ1	89869	broad.mit.edu	37	12	18836249	18836249	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:18836249C>T	uc021qvx.1	-	14	1942	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H	PLCZ1_uc001rdv.4_Missense_Mutation_p.R480H|PLCZ1_uc001rdw.4_Missense_Mutation_p.R325H|PLCZ1_uc001rdu.1_Missense_Mutation_p.R366H|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	584					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.R584C(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)					CAGAGGAATACGACGATAACC	0.378													T	18836249	C	T	18836249	3	4	266	1	0	0	0	0	1	0	0	0	12044	536	19	1	79	1	PLCZ1	12	18836249	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		18836249	115015646	44	18674											
OR6C75	390323	broad.mit.edu	37	12	55758922	55758922	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:55758922delT	uc010spk.2	+	0	28	c.28delT	c.(28-30)tttfs	p.F10fs		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGTAACAGACTTTATTCTTCT	0.353													-	55758922	T	-	55758922	7	5	266	1	0	1	0	1	0	0	0	0	11199	1609	56	0	30	0	OR6C75	12	55758922	Frame_Shift_Del	DEL	T	TCGA-76-6191-01A-12D-1696-08	36922673	55758922	78092973	45	18675											
EP400	57634	broad.mit.edu	37	12	132491424	132491424	+	Splice_Site	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:132491424T>C	uc001ujn.3	+	15	3456	c.3304_splice	c.e15+2	p.G1102_splice	EP400_uc021rgq.1_Splice_Site_p.G1101_splice|EP400_uc001ujm.3_Splice_Site_p.G1102_splice	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1138	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTAACGAAGGTAAGAGTTTGC	0.413													C	132491424	T	C	132491424	5	2	266	1	0	0	0	0	0	0	1	0	5149	1652	57	4	3357	4	EP400	12	132491424	Splice_Site	SNP	T	TCGA-76-6191-01A-12D-1696-08	76732502	132491424	1360471	46	18676											
EFHA1	221154	broad.mit.edu	37	13	22067477	22067477	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr13:22067477T>G	uc001uof.3	-	11	1284	c.1216A>C	c.(1216-1218)Agt>Cgt	p.S406R	EFHA1_uc010tct.2_Missense_Mutation_p.S196R	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	406							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TCTTGTATACTCTGATGTTGT	0.318													G	22067477	T	G	22067477	3	3	266	1	0	0	0	0	1	0	0	0	4943	1551	54	5	92	5	EFHA1	13	22067477	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08		22067477	93102401	47	18677											
MCF2L	23263	broad.mit.edu	37	13	113729315	113729315	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr13:113729315G>T	uc001vsu.3	+	10	1291	c.1291G>T	c.(1291-1293)Gcc>Tcc	p.A431S	MCF2L_uc001vsq.3_Missense_Mutation_p.A431S|MCF2L_uc010tjr.2_Missense_Mutation_p.A374S|MCF2L_uc001vsr.3_Missense_Mutation_p.A378S|MCF2L_uc001vss.4_Missense_Mutation_p.A372S|MCF2L_uc010tjs.2_Missense_Mutation_p.A372S|MCF2L_uc001vst.1_Missense_Mutation_p.A336S	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	404					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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCACAGGTGGCCGTGGAGAG	0.647													T	113729315	G	T	113729315	3	4	266	1	0	0	0	0	1	0	0	0	9379	1203	42	5	1428	5	MCF2L	13	113729315	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	91661838	113729315	1440563	48	18678											
KCNK10	54207	broad.mit.edu	37	14	88651963	88651963	+	Silent	SNP	G	G	A	rs75132782	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr14:88651963G>A	uc001xwm.3	-	6	1670	c.1548C>T	c.(1546-1548)caC>caT	p.H516H	KCNK10_uc001xwn.3_Silent_p.H516H|KCNK10_uc001xwo.3_Silent_p.H511H	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	511					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCAACTCAGCGTGCTGCTGGA	0.498													A	88651963	G	A	88651963	2	1	266	1	0	0	0	0	0	0	0	1	8059	1136	40	1		1	KCNK10	14	88651963	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08		88651963	18697577	49	18679											
FMN1	342184	broad.mit.edu	37	15	33359812	33359812	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:33359812C>T	uc001zhf.4	-	0	274	c.274G>A	c.(274-276)Gga>Aga	p.G92R	FMN1_uc001zhg.2_Missense_Mutation_p.G92R	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCATCATTTCCGAGGTCAGGT	0.493													T	33359812	C	T	33359812	3	4	266	1	0	0	0	0	1	0	0	0	5949	661	23	2	3384	2	FMN1	15	33359812	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		33359812	69171580	50	18680											
TGM5	9333	broad.mit.edu	37	15	43544994	43544994	+	Silent	SNP	G	G	A	rs138771869		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:43544994G>A	uc001zrd.2	-	5	833	c.825C>T	c.(823-825)taC>taT	p.Y275Y	TGM5_uc001zre.2_Silent_p.Y193Y	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	275					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R274C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGCATTGCCCGTAGCGCACGG	0.587													A	43544994	G	A	43544994	2	1	266	1	0	0	0	0	0	0	0	1	15830	1140	40	1		1	TGM5	15	43544994	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	10185182	43544994	58986398	51	18681											
LDHAL6B	92483	broad.mit.edu	37	15	59499582	59499582	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:59499582G>T	uc002agb.3	+	0	541	c.443G>T	c.(442-444)cGc>cTc	p.R148L	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	148					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GCAGGTGCACGCCAAGAAAAG	0.438													T	59499582	G	T	59499582	3	4	266	1	0	0	0	0	1	0	0	0	8700	1087	38	5	445	5	LDHAL6B	15	59499582	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	15954588	59499582	43031810	52	18682											
ZNF710	374655	broad.mit.edu	37	15	90610585	90610585	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:90610585C>T	uc002bov.2	+	1	339	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGGCCTGCAACGGGAGGGCCT	0.711													T	90610585	C	T	90610585	2	4	266	1	0	0	0	0	0	0	0	1	18112	535	19	1		1	ZNF710	15	90610585	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08	31111003	90610585	11920807	53	18683											
C16orf59	80178	broad.mit.edu	37	16	2511144	2511144	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr16:2511144C>G	uc002cqh.3	+	3	555	c.524C>G	c.(523-525)cCt>cGt	p.P175R	C16orf59_uc002cqg.2_Missense_Mutation_p.P8R|C16orf59_uc002cqi.3_Missense_Mutation_p.P8R|C16orf59_uc010uwb.2_Missense_Mutation_p.P8R	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	175										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ACCCCCAGGCCTGGGGCGGGC	0.687													G	2511144	C	G	2511144	3	3	266	1	0	0	0	0	1	0	0	0	1823	681	24	5	538	5	C16orf59	16	2511144	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		2511144	87843609	54	18684											
GRIN2A	2903	broad.mit.edu	37	16	9858638	9858638	+	Silent	SNP	A	A	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr16:9858638A>T	uc010uym.2	-	13	3073	c.2763T>A	c.(2761-2763)gcT>gcA	p.A921A	GRIN2A_uc002czo.4_Silent_p.A921A|GRIN2A_uc010uyn.2_Silent_p.A764A|GRIN2A_uc002czr.4_Silent_p.A921A	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	921					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R920K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGAAGTCAGCAGCTCTTTTGG	0.468													T	9858638	A	T	9858638	2	4	266	1	0	0	0	0	0	0	0	1	6779	175	7	5		5	GRIN2A	16	9858638	Silent	SNP	A	TCGA-76-6191-01A-12D-1696-08	7347494	9858638	80496115	55	18685											
LRRC48	83450	broad.mit.edu	37	17	17910458	17910458	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr17:17910458C>T	uc021trj.1	+	12	1702	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	LRRC48_uc010vxe.2_Silent_p.R441R|LRRC48_uc021tri.1_Silent_p.R441R|LRRC48_uc021trk.1_Silent_p.R441R	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	441						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACGACCTGCGCGCGGTAGGCG	0.617													T	17910458	C	T	17910458	2	4	266	1	0	0	0	0	0	0	0	1	9005	755	27	1		1	LRRC48	17	17910458	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08		17910458	63284752	56	18686											
CD79B	974	broad.mit.edu	37	17	62007651	62007651	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr17:62007651G>A	uc002jdp.1	-	2	299	c.216C>T	c.(214-216)tcC>tcT	p.S72S	CD79B_uc002jdq.1_Silent_p.S71S|CD79B_uc002jdr.1_Intron	NM_001039933	NP_001035022	P40259	CD79B_HUMAN	Homo sapiens CD79b molecule, immunoglobulin-associated beta (CD79B), transcript variant 3, mRNA.	71	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	p.S71S(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"Mis, O"		DLBCL								A	62007651	G	A	62007651	2	1	266	1	0	0	0	0	0	0	0	1	3037	1103	39	2		2	CD79B	17	62007651	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	44097193	62007651	19187559	57	18687											
CDH19	28513	broad.mit.edu	37	18	64211976	64211978	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr18:64211976_64211978delCTT	uc002lkc.1	-	5	1076_1078	c.938_940delAAG	c.(937-942)gaagga>gga	p.E313del	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_In_Frame_Del_p.E313del|CDH19_uc002lkd.3_In_Frame_Del_p.E313del	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	313	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E313K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATAACTATTCCTTCTTGAGTTTC	0.3													-	64211978	CTT	-	64211976	7	5	266	1	0	1	0	1	0	0	0	0	3104	690	24	0	1406	0	CDH19	18	64211976	In_Frame_Del	DEL	CTT	TCGA-76-6191-01A-12D-1696-08		64211976	13865272	58	18688											
THEG	51298	broad.mit.edu	37	19	362356	362356	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:362356C>T	uc002lol.3	-	7	1027	c.984G>A	c.(982-984)aaG>aaA	p.K328K	THEG_uc002lom.3_Silent_p.K304K	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	328					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCACCACCTTCTTGGTGACAT	0.617													T	362356	C	T	362356	2	4	266	1	0	0	0	0	0	0	0	1	15854	912	32	3		3	THEG	19	362356	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08		362356	58766627	59	18689											
COL5A3	50509	broad.mit.edu	37	19	10104318	10104318	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:10104318G>T	uc002mmq.1	-	17	1758	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	558	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCACCAGGCAGCCCAGGGAGG	0.587													T	10104318	G	T	10104318	3	4	266	1	0	0	0	0	1	0	0	0	3698	962	34	5	3765	5	COL5A3	19	10104318	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	9741962	10104318	49024665	60	18690											
RYR1	6261	broad.mit.edu	37	19	39001381	39001381	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:39001381G>A	uc002oit.3	+	59	9212	c.9082G>A	c.(9082-9084)Ggt>Agt	p.G3028S	RYR1_uc002oiu.3_Missense_Mutation_p.G3028S|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3028					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			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)	GCTGGGCAGCGGTGGCCACGC	0.572													A	39001381	G	A	39001381	3	1	266	1	0	0	0	0	1	0	0	0	13768	1116	39	2	9320	2	RYR1	19	39001381	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	28897063	39001381	20127602	61	18691											
PRX	57716	broad.mit.edu	37	19	40902416	40902416	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:40902416C>T	uc002onr.3	-	6	2112	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	PRX_uc002onq.3_Missense_Mutation_p.D476N|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	615	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGCACATCGGGCACGGCC	0.552													T	40902416	C	T	40902416	3	4	266	1	0	0	0	0	1	0	0	0	12642	884	31	2	2546	2	PRX	19	40902416	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	1901035	40902416	18226567	62	18692											
MATN4	8785	broad.mit.edu	37	20	43926658	43926658	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr20:43926658G>A	uc002xnn.2	-	7	1666	c.1479C>T	c.(1477-1479)cgC>cgT	p.R493R	MATN4_uc002xnp.2_Silent_p.R411R|MATN4_uc002xno.2_Silent_p.R452R|MATN4_uc010zwr.1_Silent_p.R441R|MATN4_uc002xnr.1_Silent_p.R493R	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	534	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGCGATCTCGCGCAGCTCCG	0.672													A	43926658	G	A	43926658	2	1	266	1	0	0	0	0	0	0	0	1	9336	1074	38	1		1	MATN4	20	43926658	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08		43926658	19098862	63	18693											
NCOA5	57727	broad.mit.edu	37	20	44693706	44693706	+	Missense_Mutation	SNP	C	C	T	rs150367556		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr20:44693706C>T	uc002xrd.3	-	4	1319	c.791G>A	c.(790-792)cGc>cAc	p.R264H	NCOA5_uc002xrc.3_Missense_Mutation_p.R152H|NCOA5_uc002xre.3_Missense_Mutation_p.R264H	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	p.H263L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGTGCAGGAGCGGTGAATCTG	0.473													T	44693706	C	T	44693706	3	4	266	1	0	0	0	0	1	0	0	0	10232	768	27	1	960	1	NCOA5	20	44693706	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	767048	44693706	18331814	64	18694											
COL6A1	1291	broad.mit.edu	37	21	47410308	47410308	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr21:47410308G>A	uc002zhu.1	+	12	1076	c.974G>A	c.(973-975)cGt>cAt	p.R325H		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	325	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AAGGGCAAGCGTGGCATCGAC	0.657													A	47410308	G	A	47410308	3	1	266	1	0	0	0	0	1	0	0	0	3699	1145	40	1	1024	1	COL6A1	21	47410308	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		47410308	719587	65	18695											
TCF20	6942	broad.mit.edu	37	22	42609517	42609517	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr22:42609517C>A	uc003bcj.1	-	0	1929	c.1795G>T	c.(1795-1797)Gtt>Ttt	p.V599F	TCF20_uc003bck.1_Missense_Mutation_p.V599F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCTCATTAACCTTTGGGTTC	0.542													A	42609517	C	A	42609517	3	1	266	1	0	0	0	0	1	0	0	0	15687	507	18	5	4125	5	TCF20	22	42609517	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		42609517	8695049	66	18696											
OCRL	4952	broad.mit.edu	37	X	128696660	128696660	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chrX:128696660G>A	uc004euq.3	+	11	1306	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	OCRL_uc004eur.3_Missense_Mutation_p.E381K	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	381					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGCACACGTGGAGGACTTTGA	0.438													A	128696660	G	A	128696660	3	1	266	1	0	0	0	0	1	0	0	0	10823	1175	41	3	1187	3	OCRL	23	128696660	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		128696660	26573900	67	18697											
MAMLD1	10046	broad.mit.edu	37	X	149639327	149639327	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chrX:149639327G>A	uc011mxu.2	+	2	1717	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q	MAMLD1_uc011mxt.1_Silent_p.Q456Q|MAMLD1_uc004fee.2_Silent_p.Q494Q|MAMLD1_uc011mxv.2_Silent_p.Q469Q|MAMLD1_uc011mxw.2_Silent_p.Q421Q	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	494					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCcagcaacagcagcagcagc	0.532													A	149639327	G	A	149639327	2	1	266	1	0	0	0	0	0	0	0	1	9208	962	34	3		3	MAMLD1	23	149639327	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	20942667	149639327	5631233	68	18698											
KLF17	128209	broad.mit.edu	37	1	44584644	44584644	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:44584644C>T	uc001clp.3	+	0	123	c.65C>T	c.(64-66)gCg>gTg	p.A22V	KLF17_uc009vxf.1_Intron	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	22					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A22A(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGGCAGGCGGCGCACCAGGCT	0.697													T	44584644	C	T	44584644	3	4	267	1	0	0	0	0	1	0	0	0	8345	768	27	1	67	1	KLF17	1	44584644	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		44584644	204665977	1	18699											
CYP4A11	1579	broad.mit.edu	37	1	47395834	47395834	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:47395834G>A	uc001cqp.4	-	11	1564	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	505			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CTCCTGAGACGCAGGTGGATT	0.587													A	47395834	G	A	47395834	3	1	267	1	0	0	0	0	1	0	0	0	4183	1087	38	1	50	1	CYP4A11	1	47395834	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	2811190	47395834	201854787	2	18700											
ELTD1	64123	broad.mit.edu	37	1	79404873	79404873	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:79404873T>A	uc001diq.4	-	4	552	c.396_splice	c.e4+1	p.K132_splice		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	132					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCTACTTACTTTTGTTAAAG	0.254													A	79404873	T	A	79404873	3	1	267	1	0	0	0	0	1	0	0	0	5084	1623	56	5	1724	5	ELTD1	1	79404873	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08	32009039	79404873	169845748	3	18701											
BRDT	676	broad.mit.edu	37	1	92442915	92442915	+	Missense_Mutation	SNP	G	G	A	rs142308966		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:92442915G>A	uc001dol.4	+	6	1352	c.934G>A	c.(934-936)Gtt>Att	p.V312I	BRDT_uc010osz.2_Missense_Mutation_p.V316I|BRDT_uc001dok.4_Missense_Mutation_p.V312I|BRDT_uc009wdf.3_Missense_Mutation_p.V239I|BRDT_uc010otb.2_Missense_Mutation_p.V266I|BRDT_uc010ota.2_Missense_Mutation_p.V266I|BRDT_uc001dom.4_Missense_Mutation_p.V312I	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	312	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.V312I(2)		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)		CTACTATGACGTTGTCAAAAA	0.323													A	92442915	G	A	92442915	3	1	267	1	0	0	0	0	1	0	0	0	1508	1145	40	1	952	1	BRDT	1	92442915	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	13038042	92442915	156807706	4	18702											
MNDA	4332	broad.mit.edu	37	1	158815528	158815528	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:158815528C>A	uc001fsz.1	+	4	922	c.722C>A	c.(721-723)gCc>gAc	p.A241D		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	241	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCTACAGTGGCCAGTAAGACT	0.403													A	158815528	C	A	158815528	3	1	267	1	0	0	0	0	1	0	0	0	9676	739	26	5	736	5	MNDA	1	158815528	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	66372613	158815528	90435093	5	18703											
TOMM40L	84134	broad.mit.edu	37	1	161197734	161197734	+	Missense_Mutation	SNP	A	A	C	rs146096318	by1000genomes	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:161197734A>C	uc001fzd.3	+	5	668	c.439A>C	c.(439-441)Aca>Cca	p.T147P	TOMM40L_uc010pkk.1_Non-coding_Transcript|TOMM40L_uc010pkl.1_Missense_Mutation_p.T113P|TOMM40L_uc009wue.3_Missense_Mutation_p.T29P|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.T147P	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	147					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGATGACTACACAGCCACTCT	0.522											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	161197734	A	C	161197734	3	2	267	1	0	0	0	0	1	0	0	0	16356	159	6	5	457	5	TOMM40L	1	161197734	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	2382206	161197734	88052887	6	18704											
ASPM	259266	broad.mit.edu	37	1	197060162	197060162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:197060162G>A	uc001gtu.3	-	22	9711	c.9454C>T	c.(9454-9456)Cga>Tga	p.R3152*	ASPM_uc001gtv.3_Nonsense_Mutation_p.R1567*|ASPM_uc001gtw.4_Nonsense_Mutation_p.R1000*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3152					mitosis	cytoplasm|nucleus	calmodulin binding			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						AATCTTGCTCGAAACCATCTC	0.289													A	197060162	G	A	197060162	4	1	267	1	0	0	0	0	0	1	0	0	1056	1066	37	2	1003	2	ASPM	1	197060162	Nonsense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	35862428	197060162	52190459	7	18705											
LHX9	56956	broad.mit.edu	37	1	197890610	197890610	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:197890610C>T	uc001guk.1	+	2	991	c.554C>T	c.(553-555)gCc>gTc	p.A185V	LHX9_uc001gui.1_Missense_Mutation_p.A176V	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	185	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TACTGCCGCGCCCACTTCGAG	0.607													T	197890610	C	T	197890610	3	4	267	1	0	0	0	0	1	0	0	0	8777	739	26	3	596	3	LHX9	1	197890610	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	830448	197890610	51360011	8	18706											
PQLC3	130814	broad.mit.edu	37	2	11300636	11300636	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:11300636C>T	uc002rbc.3	+	1	321	c.188C>T	c.(187-189)cCg>cTg	p.P63L	PQLC3_uc010yjk.2_Missense_Mutation_p.P63L	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	Homo sapiens PQ loop repeat containing 3 (PQLC3), mRNA.	63						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGGTATCCGCCGCTGACCTAC	0.617													T	11300636	C	T	11300636	3	4	267	1	0	0	0	0	1	0	0	0	12420	652	23	2	194	2	PQLC3	2	11300636	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		11300636	231898737	9	18707											
THSD7B	80731	broad.mit.edu	37	2	137814211	137814211	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:137814211C>T	uc002tva.1	+	1	268	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTACGCTCGCGGTGAAGT	0.542													T	137814211	C	T	137814211	3	4	267	1	0	0	0	0	1	0	0	0	15877	884	31	2	274	2	THSD7B	2	137814211	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	126513575	137814211	105385162	10	18708											
SCN7A	6332	broad.mit.edu	37	2	167262867	167262867	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:167262867C>A	uc002udu.2	-	24	4402	c.4272G>T	c.(4270-4272)atG>atT	p.M1424I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1424					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAAGACAGAGCATACTGTTGC	0.348													A	167262867	C	A	167262867	3	1	267	1	0	0	0	0	1	0	0	0	13923	710	25	5	780	5	SCN7A	2	167262867	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	29448656	167262867	75936506	11	18709											
PLEKHA3	65977	broad.mit.edu	37	2	179365815	179365815	+	Silent	SNP	A	A	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:179365815A>T	uc002umn.3	+	6	1085	c.687A>T	c.(685-687)gtA>gtT	p.V229V	MIR548N_uc021vsx.1_Intron	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 (PLEKHA3), mRNA.	229						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAGAACCAGTATCTACACTTC	0.378													T	179365815	A	T	179365815	2	4	267	1	0	0	0	0	0	0	0	1	12057	436	16	5		5	PLEKHA3	2	179365815	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	12102948	179365815	63833558	12	18710											
SPATS2L	26010	broad.mit.edu	37	2	201303921	201303921	+	Silent	SNP	A	A	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:201303921A>C	uc010zhc.2	+	6	735	c.612A>C	c.(610-612)tcA>tcC	p.S204S	SPATS2L_uc002uvn.4_Silent_p.S174S|SPATS2L_uc010fst.3_Silent_p.S174S|SPATS2L_uc002uvo.4_Silent_p.S114S|SPATS2L_uc002uvp.4_Silent_p.S174S|SPATS2L_uc002uvq.4_Intron|SPATS2L_uc002uvr.4_Silent_p.S174S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	174						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGAGAGGTCAGATGGCCTAC	0.448													C	201303921	A	C	201303921	2	2	267	1	0	0	0	0	0	0	0	1	15019	175	7	5		5	SPATS2L	2	201303921	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	21938106	201303921	41895452	13	18711											
UGT1A1	54578	broad.mit.edu	37	2	234602327	234602327	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:234602327T>G	uc002vuv.4	+	0	816	c.677T>G	c.(676-678)tTt>tGt	p.F226C	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.F226C	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	227					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TATTGTCTGTTTTCAAAGTAT	0.398													G	234602327	T	G	234602327	3	3	267	1	0	0	0	0	1	0	0	0	16941	1841	64	5		5	UGT1A1	2	234602327	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08	33298406	234602327	8597046	14	18712											
PER2	8864	broad.mit.edu	37	2	239157720	239157720	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:239157720C>T	uc002vyc.3	-	21	3838	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	PER2_uc010znv.1_Missense_Mutation_p.A1201T	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	1201	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			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)		TCGATGGCTGCGGGCAGGCCG	0.562													T	239157720	C	T	239157720	3	4	267	1	0	0	0	0	1	0	0	0	11730	768	27	1	174	1	PER2	2	239157720	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	4555393	239157720	4041653	15	18713											
CLSTN2	64084	broad.mit.edu	37	3	140275468	140275468	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:140275468G>A	uc003etn.3	+	10	1978	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	CLSTN2_uc003etm.2_Silent_p.A596A	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	596					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.T595M(1)|p.A596V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCCCAACGGCGGGTGTGCGGC	0.577										HNSCC(16;0.037)			A	140275468	G	A	140275468	2	1	267	1	0	0	0	0	0	0	0	1	3562	1103	39	2		2	CLSTN2	3	140275468	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08		140275468	57746962	16	18714											
ZBTB38	253461	broad.mit.edu	37	3	141163945	141163945	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:141163945C>T	uc010hup.3	+	1	2765	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D	ZBTB38_uc003etw.3_Silent_p.D905D|ZBTB38_uc010hun.3_Silent_p.D902D|ZBTB38_uc010huo.3_Silent_p.D905D|ZBTB38_uc003ety.3_Silent_p.D905D|ZBTB38_uc021xes.1_Silent_p.D905D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	905					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGTTCGATGACGCAAGTGACC	0.498													T	141163945	C	T	141163945	2	4	267	1	0	0	0	0	0	0	0	1	17536	535	19	1		1	ZBTB38	3	141163945	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08	888477	141163945	56858485	17	18715											
GRK7	131890	broad.mit.edu	37	3	141499458	141499458	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:141499458G>A	uc011bnd.2	+	1	939	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	285	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACGTGGGCACGCGTGGCCTGG	0.557													A	141499458	G	A	141499458	2	1	267	1	0	0	0	0	0	0	0	1	6794	1074	38	1		1	GRK7	3	141499458	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	335513	141499458	56522972	18	18716											
TPRG1	285386	broad.mit.edu	37	3	189038544	189038544	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:189038544A>T	uc003frv.2	+	10	1990	c.763A>T	c.(763-765)Atg>Ttg	p.M255L	TPRG1_uc003frw.2_Missense_Mutation_p.M255L	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	255										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CACAGGGCTGATGTCATTCAT	0.433													T	189038544	A	T	189038544	3	4	267	1	0	0	0	0	1	0	0	0	16415	333	12	5	781	5	TPRG1	3	189038544	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	47539086	189038544	8983886	19	18717											
GAK	2580	broad.mit.edu	37	4	860238	860238	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:860238T>C	uc003gbm.4	-	21	3156	c.2957A>G	c.(2956-2958)aAt>aGt	p.N986S	GAK_uc003gbn.4_Missense_Mutation_p.N907S|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.N839S	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	986					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGAGTCCGAATTGAGAAATTC	0.622													C	860238	T	C	860238	3	2	267	1	0	0	0	0	1	0	0	0	6195	1493	52	4	1006	4	GAK	4	860238	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08		860238	190294038	20	18718											
RASSF6	166824	broad.mit.edu	37	4	74477540	74477540	+	Silent	SNP	G	G	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:74477540G>T	uc003hhd.1	-	1	192	c.69C>A	c.(67-69)tcC>tcA	p.S23S	RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	23					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GATGGTCTGAGGATATCCTAA	0.343													T	74477540	G	T	74477540	2	4	267	1	0	0	0	0	0	0	0	1	13090	987	35	5		5	RASSF6	4	74477540	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	73617302	74477540	116676736	21	18719											
FRAS1	80144	broad.mit.edu	37	4	79343100	79343100	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:79343100C>T	uc003hlb.2	+	33	5064	c.4624C>T	c.(4624-4626)Cgc>Tgc	p.R1542C	FRAS1_uc003hkw.3_Missense_Mutation_p.R1542C|FRAS1_uc010ijj.2_Intron	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1541					cell communication	integral to membrane|plasma membrane	metal ion binding			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						AGTCATGTACCGCCCTCCCCC	0.567													T	79343100	C	T	79343100	3	4	267	1	0	0	0	0	1	0	0	0	6042	652	23	2	4758	2	FRAS1	4	79343100	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	4865560	79343100	111811176	22	18720											
AGXT2L1	64850	broad.mit.edu	37	4	109667592	109667592	+	Silent	SNP	T	T	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:109667592T>C	uc003hzc.3	-	10	1447	c.1266A>G	c.(1264-1266)gcA>gcG	p.A422A	AGXT2L1_uc010imc.3_Silent_p.A416A|AGXT2L1_uc011cfm.2_Silent_p.A382A|AGXT2L1_uc011cfn.2_Silent_p.A349A|AGXT2L1_uc011cfo.2_Silent_p.A364A	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	422					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CCATGAACTTTGCATCTTCTT	0.423													C	109667592	T	C	109667592	2	2	267	1	0	0	0	0	0	0	0	1	406	1799	63	4		4	AGXT2L1	4	109667592	Silent	SNP	T	TCGA-76-6192-01A-11D-1696-08	30324492	109667592	81486684	23	18721											
TRIO	7204	broad.mit.edu	37	5	14389446	14389446	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:14389446A>G	uc003jff.3	+	24	4003	c.3997A>G	c.(3997-3999)Att>Gtt	p.I1333V	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.I1284V|TRIO_uc003jfh.1_Missense_Mutation_p.I982V	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1333	DH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCACCTGGCATTGTAAACAA	0.408													G	14389446	A	G	14389446	3	3	267	1	0	0	0	0	1	0	0	0	16549	217	8	4	4095	4	TRIO	5	14389446	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08		14389446	166525814	24	18722											
AP3B1	8546	broad.mit.edu	37	5	77477403	77477403	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:77477403C>T	uc003kfj.3	-	7	995	c.870G>A	c.(868-870)ccG>ccA	p.P290P		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	290					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CCATAGTATACGGCTTCTTCT	0.343									Hermansky-Pudlak syndrome				T	77477403	C	T	77477403	2	4	267	1	0	0	0	0	0	0	0	1	744	523	19	1		1	AP3B1	5	77477403	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08	63087957	77477403	103437857	25	18723											
RGMB	285704	broad.mit.edu	37	5	98128833	98128833	+	Silent	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:98128833A>G	uc003knc.3	+	4	1215	c.813A>G	c.(811-813)aaA>aaG	p.K271K		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	230					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CAGATCAGAAAGTCTACCAAG	0.527													G	98128833	A	G	98128833	2	3	267	1	0	0	0	0	0	0	0	1	13281	69	3	4		4	RGMB	5	98128833	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	20651430	98128833	82786427	26	18724											
PCDHAC2	56136	broad.mit.edu	37	5	140263481	140263481	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:140263481C>T	uc003lif.2	+	0	1628	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.P543L|PCDHAC2_uc003lid.3_Missense_Mutation_p.P543L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	557	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGCGTGCCGCCTCTGGGC	0.692													T	140263481	C	T	140263481	3	4	267	1	0	0	0	0	1	0	0	0	11533	652	23	2		2	PCDHAC2	5	140263481	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	42134648	140263481	40651779	27	18725											
PCDHGC5	56112	broad.mit.edu	37	5	140725753	140725753	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:140725753G>A	uc003ljm.2	+	0	2153	c.2153G>A	c.(2152-2154)cGc>cAc	p.R718H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.R718H	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	719					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)			AGGCTGCGGCGCTGGCACAAG	0.677													A	140725753	G	A	140725753	3	1	267	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140725753	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	462272	140725753	40189507	28	18726											
CCDC99	54908	broad.mit.edu	37	5	169028402	169028402	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:169028402G>A	uc003mae.4	+	10	1722	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P	CCDC99_uc010jjj.3_Silent_p.P410P|CCDC99_uc011deq.2_Silent_p.P298P|CCDC99_uc010jjk.3_Silent_p.P207P	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	481					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGATTACCGCCTCAGAAAG	0.438													A	169028402	G	A	169028402	2	1	267	1	0	0	0	0	0	0	0	1	2876	1074	38	1		1	CCDC99	5	169028402	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	28302649	169028402	11886858	29	18727											
ZNF323	64288	broad.mit.edu	37	6	28297413	28297413	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:28297413C>T	uc003nlc.3	-	1	437	c.48G>A	c.(46-48)gaG>gaA	p.E16E	ZNF323_uc003nld.3_Silent_p.E16E|ZNF323_uc010jra.3_Silent_p.E16E|ZNF323_uc003nla.3_Silent_p.E16E|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Silent_p.E16E|ZNF323_uc021yrt.1_Intron	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	16					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TAGGGTCTTCCTCCACTTTCA	0.448													T	28297413	C	T	28297413	2	4	267	1	0	0	0	0	0	0	0	1	17840	680	24	3		3	ZNF323	6	28297413	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08		28297413	142817654	30	18728											
EHMT2	10919	broad.mit.edu	37	6	31856011	31856011	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:31856011G>A	uc003nxz.1	-	12	1562	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.R309C|EHMT2_uc011don.1_Missense_Mutation_p.R541C|EHMT2_uc003nya.1_Missense_Mutation_p.R484C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	518					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTGTGGAAGCGGTGGGCCACA	0.622													A	31856011	G	A	31856011	3	1	267	1	0	0	0	0	1	0	0	0	4984	1116	39	2	2144	2	EHMT2	6	31856011	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	3558598	31856011	139259056	31	18729											
SLC26A8	116369	broad.mit.edu	37	6	35980127	35980127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:35980127G>A	uc003olm.3	-	2	322	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SLC26A8_uc003oll.3_Nonsense_Mutation_p.R71*|SLC26A8_uc003oln.3_Nonsense_Mutation_p.R71*	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	71					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCACGCATCGTAGGAACCTG	0.468													A	35980127	G	A	35980127	4	1	267	1	0	0	0	0	0	1	0	0	14523	1153	40	1	2773	1	SLC26A8	6	35980127	Nonsense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	4124116	35980127	135134940	32	18730											
RAPGEF5	9771	broad.mit.edu	37	7	22202112	22202112	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:22202112G>A	uc003svg.3	-	12	1185	c.872C>T	c.(871-873)cCg>cTg	p.P291L	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	141					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TTTCCTACGCGGAACGTCTGA	0.343													A	22202112	G	A	22202112	3	1	267	1	0	0	0	0	1	0	0	0	13047	1116	39	2	1376	2	RAPGEF5	7	22202112	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		22202112	136936551	33	18731											
ANLN	54443	broad.mit.edu	37	7	36478889	36478889	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:36478889G>C	uc003tff.3	+	20	3164	c.2960G>C	c.(2959-2961)aGa>aCa	p.R987T	ANLN_uc011kaz.2_Missense_Mutation_p.R899T|ANLN_uc003tfg.3_Missense_Mutation_p.R950T|ANLN_uc010kxe.3_Missense_Mutation_p.R949T	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	987	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GTTGAAGAAAGAGGTTTTCTA	0.303													C	36478889	G	C	36478889	3	2	267	1	0	0	0	0	1	0	0	0	694	942	33	5	3042	5	ANLN	7	36478889	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	14276777	36478889	122659774	34	18732											
TNS3	64759	broad.mit.edu	37	7	47336762	47336762	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:47336762G>A	uc003tnw.3	-	23	3952	c.3594C>T	c.(3592-3594)gaC>gaT	p.D1198D	TNS3_uc022acn.1_Silent_p.D755D	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1198	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGGAATGGCTGTCTCGAACAA	0.567													A	47336762	G	A	47336762	2	1	267	1	0	0	0	0	0	0	0	1	16341	1368	48	3		3	TNS3	7	47336762	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	10857873	47336762	111801901	35	18733											
PCLO	27445	broad.mit.edu	37	7	82764222	82764222	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:82764222G>A	uc003uhx.2	-	2	2933	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	PCLO_uc003uhv.2_Nonsense_Mutation_p.R882*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	828	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R882L(1)		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						GCGGTAGGTCGTGGGCCAGGG	0.517													A	82764222	G	A	82764222	4	1	267	1	0	0	0	0	0	1	0	0	11583	1153	40	1	12893	1	PCLO	7	82764222	Nonsense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	35427460	82764222	76374441	36	18734											
MUC17	140453	broad.mit.edu	37	7	100674926	100674926	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:100674926G>A	uc003uxp.1	+	2	282	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	77						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					TACAAATGTCGTGGAGCCAAG	0.448													A	100674926	G	A	100674926	3	1	267	1	0	0	0	0	1	0	0	0	9974	1145	40	1	239	1	MUC17	7	100674926	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	17910704	100674926	58463737	37	18735											
ASB10	136371	broad.mit.edu	37	7	150878052	150878052	+	Missense_Mutation	SNP	G	G	A	rs104886484		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:150878052G>A	uc003wjm.1	-	2	1339	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	ASB10_uc003wjl.1_Missense_Mutation_p.R360C|ASB10_uc003wjn.1_Missense_Mutation_p.R345C	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	360					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCAGACACGGACGGCGCCA	0.701													A	150878052	G	A	150878052	3	1	267	1	0	0	0	0	1	0	0	0	1014	1116	39	2	337	2	ASB10	7	150878052	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	50203126	150878052	8260611	38	18736											
MLL3	58508	broad.mit.edu	37	7	151921652	151921652	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:151921652A>C	uc003wla.3	-	18	3245	c.3026T>G	c.(3025-3027)gTg>gGg	p.V1009G	MLL3_uc003wkz.3_Missense_Mutation_p.V70G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1009					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGCCTCACACACAGTGCACTC	0.448			N		medulloblastoma								C	151921652	A	C	151921652	3	2	267	1	0	0	0	0	1	0	0	0	9622	159	6	5	11873	5	MLL3	7	151921652	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	1043600	151921652	7217011	39	18737											
NFIB	4781	broad.mit.edu	37	9	14307176	14307176	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:14307176T>C	uc022bdo.1	-	1	909	c.374A>G	c.(373-375)gAc>gGc	p.D125G	NFIB_uc003zlf.3_Missense_Mutation_p.D125G|NFIB_uc003zle.3_Missense_Mutation_p.D125G|NFIB_uc022bdp.1_Missense_Mutation_p.D151G|NFIB_uc011lmo.2_Missense_Mutation_p.D125G	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	125					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CCAGACTTTGTCTGCCTGTCG	0.522			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								C	14307176	T	C	14307176	3	2	267	1	0	0	0	0	1	0	0	0	10371	1667	58	4	920	4	NFIB	9	14307176	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08		14307176	126906255	40	18738											
FAM75A6	389730	broad.mit.edu	37	9	43627272	43627272	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:43627272A>G	uc011lrb.2	-	3	1444	c.1415T>C	c.(1414-1416)cTg>cCg	p.L472P		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	472						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GCGGTGGGACAGGGGCTGGGC	0.522													G	43627272	A	G	43627272	3	3	267	1	0	0	0	0	1	0	0	0	5622	188	7	4	2620	4	FAM75A6	9	43627272	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	29320096	43627272	97586159	41	18739											
TMC1	117531	broad.mit.edu	37	9	75445373	75445373	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:75445373C>T	uc004aiz.1	+	21	2676	c.2136C>T	c.(2134-2136)gcC>gcT	p.A712A	TMC1_uc010moz.1_Silent_p.A670A|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.A566A|TMC1_uc010mpa.1_Silent_p.A566A	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	712					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTAGTTTGGCCATCTATTATC	0.303													T	75445373	C	T	75445373	2	4	267	1	0	0	0	0	0	0	0	1	15981	581	21	3		3	TMC1	9	75445373	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08	31818101	75445373	65768058	42	18740											
PMPCA	23203	broad.mit.edu	37	9	139311437	139311437	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:139311437G>A	uc004chl.3	+	6	673	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PMPCA_uc011mdz.2_Missense_Mutation_p.R92H|PMPCA_uc010nbl.3_Missense_Mutation_p.R123H|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	223					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.R223C(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGCCTCCACCGTTTCTGCCCC	0.562													A	139311437	G	A	139311437	3	1	267	1	0	0	0	0	1	0	0	0	12140	1145	40	1	694	1	PMPCA	9	139311437	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	63866064	139311437	1901994	43	18741											
ITGA8	8516	broad.mit.edu	37	10	15649777	15649777	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr10:15649777G>A	uc001ioc.1	-	16	1663	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	ITGA8_uc010qcb.1_Missense_Mutation_p.R540W	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	555					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.R555Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAGAGCGTCCGTTTAATAGCT	0.433													A	15649777	G	A	15649777	3	1	267	1	0	0	0	0	1	0	0	0	7882	1144	40	1	1584	1	ITGA8	10	15649777	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		15649777	119884970	44	18742											
PTEN	5728	broad.mit.edu	37	10	89720650	89720650	+	Splice_Site	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr10:89720650G>A	uc001kfb.3	+	8	1834	c.802_splice	c.e8-1	p.D268_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	268	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		tttttttttAGGACAAAATGT	0.264		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720650	G	A	89720650	5	1	267	1	0	0	0	0	0	0	1	0	12738	1014	35	3	831	3	PTEN	10	89720650	Splice_Site	SNP	G	TCGA-76-6192-01A-11D-1696-08	74070873	89720650	45814097	45	18743											
TRIM21	6737	broad.mit.edu	37	11	4406616	4406616	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:4406616G>A	uc001lyy.1	-	6	1440	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	443	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AAGAAGGGCCGCAGAGGTCCT	0.488													A	4406616	G	A	4406616	3	1	267	1	0	0	0	0	1	0	0	0	16492	1086	38	1	104	1	TRIM21	11	4406616	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		4406616	130599900	46	18744											
OR52E4	390081	broad.mit.edu	37	11	5906308	5906308	+	Silent	SNP	A	A	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:5906308A>T	uc010qzs.2	+	0	786	c.786A>T	c.(784-786)acA>acT	p.T262T	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTTATGACACATCGTTTTG	0.423													T	5906308	A	T	5906308	2	4	267	1	0	0	0	0	0	0	0	1	11116	146	6	5		5	OR52E4	11	5906308	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	1499692	5906308	129100208	47	18745											
BTBD10	84280	broad.mit.edu	37	11	13441120	13441120	+	Silent	SNP	T	T	C			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:13441120T>C	uc010rcl.2	-	2	766	c.495A>G	c.(493-495)aaA>aaG	p.K165K	BTBD10_uc001mkz.3_Silent_p.K157K|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Silent_p.K109K|BTBD10_uc010rcn.2_Silent_p.K126K|BTBD10_uc009ygo.3_Silent_p.K109K	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.	157						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GAGCTCCTTCTTTTGCATTTT	0.418													C	13441120	T	C	13441120	2	2	267	1	0	0	0	0	0	0	0	1	1538	1606	56	4		4	BTBD10	11	13441120	Silent	SNP	T	TCGA-76-6192-01A-11D-1696-08	7534812	13441120	121565396	48	18746											
MMP7	4316	broad.mit.edu	37	11	102398591	102398591	+	Missense_Mutation	SNP	C	C	T	rs145006821	by1000genomes	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:102398591C>T	uc001phb.3	-	1	279	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	MMP7_uc009yxd.3_Missense_Mutation_p.V78I|MMP7_uc010rus.1_Missense_Mutation_p.V78I	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	78					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V78I(2)|p.R77R(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)		ATTTCTATGACGCGGGAGTTT	0.408													T	102398591	C	T	102398591	3	4	267	1	0	0	0	0	1	0	0	0	9667	536	19	1	591	1	MMP7	11	102398591	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	88957471	102398591	32607925	49	18747											
TEAD4	7004	broad.mit.edu	37	12	3121377	3121377	+	Silent	SNP	C	C	T	rs112112805		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:3121377C>T	uc010sej.2	+	4	625	c.333C>T	c.(331-333)cgC>cgT	p.R111R	TEAD4_uc010sek.2_Silent_p.R111R|TEAD4_uc001qln.3_5'UTR	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	111					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCAAAGCTCGCGAGATCCAGG	0.597													T	3121377	C	T	3121377	2	4	267	1	0	0	0	0	0	0	0	1	15738	755	27	1		1	TEAD4	12	3121377	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08		3121377	130730518	50	18748											
PLEKHA5	54477	broad.mit.edu	37	12	19436297	19436297	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:19436297C>G	uc001reb.3	+	10	1487	c.1379C>G	c.(1378-1380)aCa>aGa	p.T460R	PLEKHA5_uc010sie.2_Missense_Mutation_p.T466R|PLEKHA5_uc001rea.3_Missense_Mutation_p.T460R|PLEKHA5_uc009zin.3_Missense_Mutation_p.T218R|PLEKHA5_uc010sig.2_Missense_Mutation_p.T352R|PLEKHA5_uc010sih.1_Missense_Mutation_p.T352R|PLEKHA5_uc021qvy.1_Missense_Mutation_p.T352R|PLEKHA5_uc001rec.1_Missense_Mutation_p.T148R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	460							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGTTATAGAACACTCCCAAGA	0.438													G	19436297	C	G	19436297	3	3	267	1	0	0	0	0	1	0	0	0	12059	478	17	5	1421	5	PLEKHA5	12	19436297	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	16314920	19436297	114415598	51	18749											
CYP27B1	1594	broad.mit.edu	37	12	58158677	58158677	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:58158677C>T	uc001spz.1	-	4	975	c.823G>A	c.(823-825)Gca>Aca	p.A275T	CYP27B1_uc001sqa.1_Missense_Mutation_p.A40T|CYP27B1_uc001sqb.1_Missense_Mutation_p.G155D|CYP27B1_uc001sqc.1_Missense_Mutation_p.G155D	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	275					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CTCATGGCTGCCTCTGCCTCT	0.617													T	58158677	C	T	58158677	3	4	267	1	0	0	0	0	1	0	0	0	4159	739	26	3	723	3	CYP27B1	12	58158677	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	38722380	58158677	75693218	52	18750											
ATP8A2	51761	broad.mit.edu	37	13	26343355	26343355	+	Silent	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr13:26343355C>T	uc001uqk.3	+	25	2698	c.2556C>T	c.(2554-2556)taC>taT	p.Y852Y	ATP8A2_uc010tdi.2_Silent_p.Y812Y|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.Y402Y	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	812					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			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)		ACTCGGATTACGCCATCGCAC	0.582													T	26343355	C	T	26343355	2	4	267	1	0	0	0	0	0	0	0	1	1193	547	19	1		1	ATP8A2	13	26343355	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08		26343355	88826523	53	18751											
SEMA6D	80031	broad.mit.edu	37	15	48053911	48053911	+	Silent	SNP	A	A	G			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr15:48053911A>G	uc010bek.3	+	6	861	c.501A>G	c.(499-501)ccA>ccG	p.P167P	SEMA6D_uc001zvw.3_Silent_p.P167P|SEMA6D_uc001zvx.1_Silent_p.P167P|SEMA6D_uc001zvy.3_Silent_p.P167P|SEMA6D_uc001zvz.3_Silent_p.P167P|SEMA6D_uc001zwa.3_Silent_p.P167P|SEMA6D_uc001zwb.3_Silent_p.P167P|SEMA6D_uc001zwc.3_Silent_p.P167P	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	167	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.C166Y(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)		CAAGATGCCCATTTGATGCCA	0.373													G	48053911	A	G	48053911	2	3	267	1	0	0	0	0	0	0	0	1	14042	204	8	4		4	SEMA6D	15	48053911	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08		48053911	54477481	54	18752											
CSNK1G1	53944	broad.mit.edu	37	15	64472574	64472574	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr15:64472574G>A	uc002anf.3	-	10	1667	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.A396V|CSNK1G1_uc002anh.1_Missense_Mutation_p.A433V	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	396					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTCCACCTCGGCATGAGCTGT	0.483													A	64472574	G	A	64472574	3	1	267	1	0	0	0	0	1	0	0	0	3954	1203	42	3	89	3	CSNK1G1	15	64472574	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	16418663	64472574	38058818	55	18753											
ITGAX	3687	broad.mit.edu	37	16	31383748	31383748	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr16:31383748C>T	uc002ebt.3	+	17	2277	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	ITGAX_uc002ebu.1_Missense_Mutation_p.T737M	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	737					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGAACTTCACGCTGGTGGGC	0.642													T	31383748	C	T	31383748	3	4	267	1	0	0	0	0	1	0	0	0	7889	536	19	1	2280	1	ITGAX	16	31383748	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		31383748	58971005	56	18754											
SPAG5	10615	broad.mit.edu	37	17	26919636	26919636	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr17:26919636G>A	uc002hbq.3	-	2	718	c.626C>T	c.(625-627)cCc>cTc	p.P209L	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	209					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCAGAACAGGGATTTGGTGG	0.483													A	26919636	G	A	26919636	3	1	267	1	0	0	0	0	1	0	0	0	14981	1232	43	3	3043	3	SPAG5	17	26919636	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		26919636	54275574	57	18755											
ADAMTS10	81794	broad.mit.edu	37	19	8661947	8661947	+	Missense_Mutation	SNP	C	C	T	rs141147742		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:8661947C>T	uc002mkj.1	-	7	1238	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	322	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGTGGTTCACGATGGATTTC	0.572													T	8661947	C	T	8661947	3	4	267	1	0	0	0	0	1	0	0	0	256	536	19	1	2423	1	ADAMTS10	19	8661947	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		8661947	50467036	58	18756											
SLC1A6	6511	broad.mit.edu	37	19	15073138	15073138	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:15073138G>A	uc002naa.1	-	4	618	c.611C>T	c.(610-612)aCg>aTg	p.T204M	SLC1A6_uc010dzu.1_Missense_Mutation_p.T204M|SLC1A6_uc010xod.1_Missense_Mutation_p.T140M|SLC1A6_uc002nab.3_Missense_Mutation_p.T204M|SLC1A6_uc002nac.3_Missense_Mutation_p.T204M	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	204					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.T204M(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TACCACCCTCGTGCTGTACTG	0.532													A	15073138	G	A	15073138	3	1	267	1	0	0	0	0	1	0	0	0	14436	1145	40	1	1103	1	SLC1A6	19	15073138	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	6411191	15073138	44055845	59	18757											
HIF3A	64344	broad.mit.edu	37	19	46807322	46807322	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:46807322G>A	uc002peh.3	+	1	225	c.194G>A	c.(193-195)cGc>cAc	p.R65H	HIF3A_uc002pef.2_Missense_Mutation_p.R65H|HIF3A_uc002peg.4_Missense_Mutation_p.R65H|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.R9H|HIF3A_uc002pej.2_Missense_Mutation_p.A45T|HIF3A_uc010xxy.2_Missense_Mutation_p.A45T|HIF3A_uc002pel.3_Missense_Mutation_p.R63H|HIF3A_uc010xxz.2_Missense_Mutation_p.A63T	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	65	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCTACCTGCGCATGCACCGC	0.672													A	46807322	G	A	46807322	3	1	267	1	0	0	0	0	1	0	0	0	7105	1087	38	1	224	1	HIF3A	19	46807322	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	31734184	46807322	12321661	60	18758											
SIGLEC14	100049587	broad.mit.edu	37	19	52149086	52149086	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:52149086G>A	uc002pxf.4	-	2	769	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	217	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.R217C(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCTCCTTGGCGTTTCACCTGA	0.642													A	52149086	G	A	52149086	3	1	267	1	0	0	0	0	1	0	0	0	14309	1145	40	1	561	1	SIGLEC14	19	52149086	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	5341764	52149086	6979897	61	18759											
NLRP5	126206	broad.mit.edu	37	19	56552352	56552352	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:56552352C>T	uc002qmj.3	+	10	2851	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W	NLRP5_uc002qmi.3_Missense_Mutation_p.R932W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	951						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTCAGCAACCGGAGCTTGAC	0.562													T	56552352	C	T	56552352	3	4	267	1	0	0	0	0	1	0	0	0	10480	643	23	2	2893	2	NLRP5	19	56552352	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	4403266	56552352	2576631	62	18760											
SEL1L2	80343	broad.mit.edu	37	20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr20:13830889G>A	uc010gcf.3	-	18	1977	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_uc002woq.4_Missense_Mutation_p.A493V|SEL1L2_uc010zrl.2_Missense_Mutation_p.A519V|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	632						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458													A	13830889	G	A	13830889	3	1	267	1	0	0	0	0	1	0	0	0	14011	1203	42	3	179	3	SEL1L2	20	13830889	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		13830889	49194631	63	18761											
TSHZ2	128553	broad.mit.edu	37	20	51870967	51870967	+	Missense_Mutation	SNP	G	G	A	rs138844500	byFrequency	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr20:51870967G>A	uc002xwo.3	+	1	1857	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TSHZ2_uc021wex.1_Missense_Mutation_p.V321I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	324					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V324F(2)|p.V324I(2)|p.R323L(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)			TAAGAAACGCGTTTTTGATGT	0.458													A	51870967	G	A	51870967	3	1	267	1	0	0	0	0	1	0	0	0	16621	1145	40	1	976	1	TSHZ2	20	51870967	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	38040078	51870967	11154553	64	18762											
SIM2	6493	broad.mit.edu	37	21	38092132	38092132	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr21:38092132C>T	uc002yvr.2	+	3	415	c.359C>T	c.(358-360)aCg>aTg	p.T120M	SIM2_uc002yvq.3_Missense_Mutation_p.T120M	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	120	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTGGAGCTCACGGGCAACAGT	0.602													T	38092132	C	T	38092132	3	4	267	1	0	0	0	0	1	0	0	0	14324	536	19	1	373	1	SIM2	21	38092132	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		38092132	10037763	65	18763											
GCAT	23464	broad.mit.edu	37	22	38211153	38211153	+	Silent	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr22:38211153G>A	uc003aua.2	+	4	738	c.675G>A	c.(673-675)gtG>gtA	p.V225V	GCAT_uc003atz.3_Silent_p.V199V	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGCGCCTGGTGGCCACTGATG	0.577													A	38211153	G	A	38211153	2	1	267	1	0	0	0	0	0	0	0	1	6284	1335	47	3		3	GCAT	22	38211153	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08		38211153	13093413	66	18764											
LUZP4	51213	broad.mit.edu	37	X	114541268	114541268	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chrX:114541268G>A	uc004eqa.3	+	3	875	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_uc004eqb.3_Missense_Mutation_p.V199M	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	281						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428													A	114541268	G	A	114541268	3	1	267	1	0	0	0	0	1	0	0	0	9088	1145	40	1	855	1	LUZP4	23	114541268	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		114541268	40729292	67	18765											
SLC45A1	50651	broad.mit.edu	37	1	8395553	8395553	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:8395553C>T	uc001apb.3	+	4	1500	c.1500C>T	c.(1498-1500)agC>agT	p.S500S	SLC45A1_uc001apc.3_Silent_p.S198S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	500					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGCTCCAGCGAGCGCGCGG	0.647													T	8395553	C	T	8395553	2	4	268	1	0	0	0	0	0	0	0	1	14640	767	27	1		1	SLC45A1	1	8395553	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08		8395553	240855068	1	18766											
ST6GALNAC3	256435	broad.mit.edu	37	1	77094323	77094323	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:77094323A>T	uc001dhh.2	+	4	913	c.750A>T	c.(748-750)aaA>aaT	p.K250N	ST6GALNAC3_uc010orh.1_Missense_Mutation_p.K149N	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	250					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGTATAGAAAAGTCCCCTACC	0.363													T	77094323	A	T	77094323	3	4	268	1	0	0	0	0	1	0	0	0	15224	69	3	5	782	5	ST6GALNAC3	1	77094323	Missense_Mutation	SNP	A	TCGA-76-6193-01A-11D-1696-08	68698770	77094323	172156298	2	18767											
HCN3	57657	broad.mit.edu	37	1	155254428	155254428	+	Silent	SNP	C	C	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:155254428C>G	uc001fjz.1	+	3	977	c.969C>G	c.(967-969)ccC>ccG	p.P323P	HCN3_uc010pfz.1_Intron	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	323						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P323L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGCATGCCCGACGTCTGGC	0.597													G	155254428	C	G	155254428	2	3	268	1	0	0	0	0	0	0	0	1	6998	639	23	5		5	HCN3	1	155254428	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	78160105	155254428	93996193	3	18768											
CD1B	910	broad.mit.edu	37	1	158300836	158300836	+	Silent	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:158300836G>A	uc001frx.3	-	1	186	c.78C>T	c.(76-78)acC>acT	p.T26T	CD1B_uc001frw.3_Silent_p.T26T|CD1B_uc010pic.1_Silent_p.T26T	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	26					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CATGAAAGGAGGTCGGCCCCT	0.458													A	158300836	G	A	158300836	2	1	268	1	0	0	0	0	0	0	0	1	2975	987	35	3		3	CD1B	1	158300836	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08	3046408	158300836	90949785	4	18769											
VSIG8	391123	broad.mit.edu	37	1	159827989	159827989	+	Nonsense_Mutation	SNP	G	G	C	rs138280068		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:159827989G>C	uc001fuh.3	-	2	457	c.321C>G	c.(319-321)taC>taG	p.Y107*	VSIG8_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 8 (VSIG8), mRNA.	107	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					TGGAGGCATCGTACTGGCTTG	0.542													C	159827989	G	C	159827989	4	2	268	1	0	0	0	0	0	1	0	0	17223	1140	40	5	943	5	VSIG8	1	159827989	Nonsense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	1527153	159827989	89422632	5	18770											
ITLN2	142683	broad.mit.edu	37	1	160920979	160920979	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:160920979C>T	uc001fxd.3	-	3	353	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ITLN2_uc009wts.3_Missense_Mutation_p.E98K|ITLN2_uc010pju.2_Missense_Mutation_p.E16K	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	99	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTCATTCTCGTGCACGCTG	0.582													T	160920979	C	T	160920979	3	4	268	1	0	0	0	0	1	0	0	0	7911	893	31	2	702	2	ITLN2	1	160920979	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	1092990	160920979	88329642	6	18771											
LAMC2	3918	broad.mit.edu	37	1	183207550	183207550	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:183207550C>T	uc001gqa.2	+	18	3177	c.2863C>T	c.(2863-2865)Ctc>Ttc	p.L955F	LAMC2_uc001gpz.4_Missense_Mutation_p.L955F|LAMC2_uc010poa.2_Missense_Mutation_p.L655F	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	955	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCTTAAAAACCTCAGAGGTTA	0.413													T	183207550	C	T	183207550	3	4	268	1	0	0	0	0	1	0	0	0	8615	681	24	3	2937	3	LAMC2	1	183207550	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	22286571	183207550	66043071	7	18772											
KLF11	8462	broad.mit.edu	37	2	10188462	10188462	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:10188462C>T	uc002raf.1	+	2	1160	c.998C>T	c.(997-999)gCt>gTt	p.A333V	KLF11_uc021vdq.1_Missense_Mutation_p.A316V|KLF11_uc010yjc.2_Missense_Mutation_p.A316V	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	333					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTGGGACCTGCTGTGCCTCAG	0.622											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	10188462	C	T	10188462	3	4	268	1	0	0	0	0	1	0	0	0	8339	797	28	3	1008	3	KLF11	2	10188462	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		10188462	233010911	8	18773											
ACTG2	72	broad.mit.edu	37	2	74140711	74140711	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:74140711G>A	uc002sjw.3	+	5	673	c.551G>A	c.(550-552)cGt>cAt	p.R184H	ACTG2_uc010yrn.2_Missense_Mutation_p.R141H|ACTG2_uc010fey.3_Missense_Mutation_p.R184H	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	184					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TTGGCTGGCCGTGACCTCACG	0.552													A	74140711	G	A	74140711	3	1	268	1	0	0	0	0	1	0	0	0	197	1145	40	1	569	1	ACTG2	2	74140711	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	63952249	74140711	169058662	9	18774											
VIL1	7429	broad.mit.edu	37	2	219301877	219301877	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:219301877G>A	uc002vib.3	+	15	2024	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	VIL1_uc010zke.2_Missense_Mutation_p.E357K|VIL1_uc002via.3_Missense_Mutation_p.E668K	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	668	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATGCCAACGAGGAGGAGAA	0.577													A	219301877	G	A	219301877	3	1	268	1	0	0	0	0	1	0	0	0	17161	1059	37	2	2064	2	VIL1	2	219301877	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	145161166	219301877	23897496	10	18775											
RPL14	9045	broad.mit.edu	37	3	40499407	40499407	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:40499407C>T	uc003ckg.3	+	1	81	c.30C>T	c.(28-30)ggC>ggT	p.G10G	RPL14_uc003ckh.3_Silent_p.G10G	NM_003973	NP_003964	P50914	RL14_HUMAN	Homo sapiens ribosomal protein L14 (RPL14), transcript variant 2, mRNA.	10					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGAGGTTGGCCGGGTGGCCT	0.443													T	40499407	C	T	40499407	2	4	268	1	0	0	0	0	0	0	0	1	13561	726	26	3		3	RPL14	3	40499407	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08		40499407	157523023	11	18776											
CDCP1	64866	broad.mit.edu	37	3	45127459	45127459	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:45127459C>T	uc003com.3	-	8	2317	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	728						extracellular region|integral to membrane|plasma membrane				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)		GAGTCATTGTCCTTTCGCCCT	0.502													T	45127459	C	T	45127459	3	4	268	1	0	0	0	0	1	0	0	0	3093	855	30	3	332	3	CDCP1	3	45127459	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	4628052	45127459	152894971	12	18777											
SLC15A2	6565	broad.mit.edu	37	3	121641692	121641692	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:121641692C>T	uc003eep.2	+	8	1004	c.851C>T	c.(850-852)gCg>gTg	p.A284V	SLC15A2_uc011bjn.1_Missense_Mutation_p.A253V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	284					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CTAGACTGGGCGGCTGAGAAA	0.433													T	121641692	C	T	121641692	3	4	268	1	0	0	0	0	1	0	0	0	14399	768	27	1	885	1	SLC15A2	3	121641692	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	76514233	121641692	76380738	13	18778											
ILDR1	286676	broad.mit.edu	37	3	121712145	121712145	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:121712145T>G	uc003ees.3	-	6	1654	c.1451A>C	c.(1450-1452)gAc>gCc	p.D484A	ILDR1_uc003eeq.3_Missense_Mutation_p.D452A|ILDR1_uc003eer.3_Missense_Mutation_p.D440A|ILDR1_uc010hrg.3_Missense_Mutation_p.D395A	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	484						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCTCTCCTTGTCCTCTTCAGA	0.677													G	121712145	T	G	121712145	3	3	268	1	0	0	0	0	1	0	0	0	7709	1667	58	5	197	5	ILDR1	3	121712145	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	70453	121712145	76310285	14	18779											
PIK3CA	5290	broad.mit.edu	37	3	178938803	178938803	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:178938803delA	uc003fjk.3	+	13	2202	c.2045delA	c.(2044-2046)cagfs	p.Q682fs		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	682	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACAGTTAGCCAGAGGTTTGGC	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178938803	A	-	178938803	7	5	268	1	0	1	0	1	0	0	0	0	11913	188	7	0	2095	0	PIK3CA	3	178938803	Frame_Shift_Del	DEL	A	TCGA-76-6193-01A-11D-1696-08	57226658	178938803	19083627	15	18780											
N4BP2	55728	broad.mit.edu	37	4	40127847	40127847	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:40127847C>T	uc003guy.4	+	11	4762	c.4424C>T	c.(4423-4425)tCt>tTt	p.S1475F	N4BP2_uc010ifq.3_Missense_Mutation_p.S1395F|N4BP2_uc010ifr.3_Missense_Mutation_p.S1395F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1475						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAACAGCATCTGAAATGCTA	0.338													T	40127847	C	T	40127847	3	4	268	1	0	0	0	0	1	0	0	0	10110	913	32	3	4462	3	N4BP2	4	40127847	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		40127847	151026429	16	18781											
NAA11	84779	broad.mit.edu	37	4	80246554	80246554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:80246554G>A	uc003hlt.4	-	0	618	c.478C>T	c.(478-480)Cga>Tga	p.R160*	NAA11_uc021xpl.1_Nonsense_Mutation_p.R160*	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	160						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.R159K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCATTTGTCGTCTCAGCTCA	0.517													A	80246554	G	A	80246554	4	1	268	1	0	0	0	0	0	1	0	0	10117	1153	40	1	215	1	NAA11	4	80246554	Nonsense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	40118707	80246554	110907722	17	18782											
ANKRD50	57182	broad.mit.edu	37	4	125591834	125591834	+	Silent	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:125591834A>G	uc010inw.3	-	3	3636	c.2598T>C	c.(2596-2598)ctT>ctC	p.L866L	ANKRD50_uc011cgo.2_Silent_p.L687L	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	866										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTGTTCAATAAGTGCTTCAC	0.393													G	125591834	A	G	125591834	2	3	268	1	0	0	0	0	0	0	0	1	677	349	13	4		4	ANKRD50	4	125591834	Silent	SNP	A	TCGA-76-6193-01A-11D-1696-08	45345280	125591834	65562442	18	18783											
NEIL3	55247	broad.mit.edu	37	4	178274739	178274739	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:178274739T>G	uc003iut.2	+	7	1434	c.1317T>G	c.(1315-1317)gaT>gaG	p.D439E	NEIL3_uc010irs.3_3'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	439					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAACAAACGATATAACTCAAC	0.373								Base excision repair (BER), DNA glycosylases					G	178274739	T	G	178274739	3	3	268	1	0	0	0	0	1	0	0	0	10320	1403	49	5	1347	5	NEIL3	4	178274739	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	52682905	178274739	12879537	19	18784											
ATG12	9140	broad.mit.edu	37	5	115177234	115177234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:115177234G>A	uc003krh.3	-	0	315	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Nonsense_Mutation_p.Q53*	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	6					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AACACAGACTGCGGCTCCTCC	0.607													A	115177234	G	A	115177234	4	1	268	1	0	0	0	0	0	1	0	0	1090	1328	46	3	422	3	ATG12	5	115177234	Nonsense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		115177234	65738026	20	18785											
PCDHB10	56126	broad.mit.edu	37	5	140573541	140573541	+	Silent	SNP	C	C	T	rs17844565	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:140573541C>T	uc003lix.3	+	0	1590	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	472	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S472S(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662													T	140573541	C	T	140573541	2	4	268	1	0	0	0	0	0	0	0	1	11535	767	27	1		1	PCDHB10	5	140573541	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	25396307	140573541	40341719	21	18786											
ZUFSP	221302	broad.mit.edu	37	6	116987896	116987896	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr6:116987896G>T	uc003pxf.2	-	1	720	c.460C>A	c.(460-462)Cct>Act	p.P154T	ZUFSP_uc010kef.2_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	154						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GGACATTCAGGAGGACTGTAT	0.378													T	116987896	G	T	116987896	3	4	268	1	0	0	0	0	1	0	0	0	18243	1174	41	5	1312	5	ZUFSP	6	116987896	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		116987896	54127171	22	18787											
LAMA2	3908	broad.mit.edu	37	6	129573419	129573419	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr6:129573419T>C	uc021zfb.1	+	13	2180	c.2075T>C	c.(2074-2076)tTt>tCt	p.F692S	LAMA2_uc003qbn.3_Missense_Mutation_p.F692S|LAMA2_uc003qbo.3_Missense_Mutation_p.F692S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	692	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACATACAGCTTTGGGATGGAT	0.453													C	129573419	T	C	129573419	3	2	268	1	0	0	0	0	1	0	0	0	8606	1841	64	4	2129	4	LAMA2	6	129573419	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	12585523	129573419	41541648	23	18788											
PLXNA4	91584	broad.mit.edu	37	7	131982916	131982916	+	Silent	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr7:131982916G>T	uc003vra.4	-	3	1666	c.1437C>A	c.(1435-1437)ggC>ggA	p.G479G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	479	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGAGGACTGGGCCGGGGTCCA	0.582													T	131982916	G	T	131982916	2	4	268	1	0	0	0	0	0	0	0	1	12122	1190	42	5		5	PLXNA4	7	131982916	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08		131982916	27155747	24	18789											
DLGAP2	9228	broad.mit.edu	37	8	1574988	1574988	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr8:1574988C>T	uc003wpl.3	+	3	1382	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	DLGAP2_uc003wpm.3_Missense_Mutation_p.R429C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	508					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCGAAATTCCGCTCCCGGAA	0.617													T	1574988	C	T	1574988	3	4	268	1	0	0	0	0	1	0	0	0	4560	652	23	2	1295	2	DLGAP2	8	1574988	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		1574988	144789034	25	18790											
MPDZ	8777	broad.mit.edu	37	9	13162794	13162794	+	Silent	SNP	T	T	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr9:13162794T>C	uc010mia.1	-	22	3312	c.3255_splice	c.e22-1	p.K1085_splice	MPDZ_uc010mhx.3_Splice_Site|MPDZ_uc011lmm.2_Splice_Site|MPDZ_uc003zkz.4_Intron|MPDZ_uc010mhz.3_Splice_Site_p.K1085_splice|MPDZ_uc011lmn.2_Splice_Site_p.K1085_splice|MPDZ_uc010mhy.3_Splice_Site_p.K1085_splice|MPDZ_uc003zlb.4_Splice_Site_p.K1085_splice	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1085	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CATAAGTAATTCTGGAACAAA	0.348													C	13162794	T	C	13162794	2	2	268	1	0	0	0	0	0	0	0	1	9722	1797	62	4		4	MPDZ	9	13162794	Silent	SNP	T	TCGA-76-6193-01A-11D-1696-08		13162794	128050637	26	18791											
ITGA8	8516	broad.mit.edu	37	10	15590502	15590502	+	Silent	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:15590502G>A	uc001ioc.1	-	26	2832	c.2832C>T	c.(2830-2832)agC>agT	p.S944S	ITGA8_uc010qcb.1_Silent_p.S929S	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	944					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCAGGACTGCGCTTTCTCCTC	0.483													A	15590502	G	A	15590502	2	1	268	1	0	0	0	0	0	0	0	1	7882	1078	38	1		1	ITGA8	10	15590502	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08		15590502	119944245	27	18792											
PLCE1	51196	broad.mit.edu	37	10	95791394	95791394	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:95791394G>A	uc001kjk.3	+	1	1225	c.591G>A	c.(589-591)atG>atA	p.M197I	PLCE1_uc010qnx.2_Missense_Mutation_p.M197I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	197					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACAGAAGAATGTCAGACACTT	0.408													A	95791394	G	A	95791394	3	1	268	1	0	0	0	0	1	0	0	0	12034	1377	48	3	593	3	PLCE1	10	95791394	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	80200892	95791394	39743353	28	18793											
KIAA1598	57698	broad.mit.edu	37	10	118689505	118689505	+	Missense_Mutation	SNP	T	T	A	rs145640256		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:118689505T>A	uc021pzk.1	-	9	1365	c.867A>T	c.(865-867)gaA>gaT	p.E289D	KIAA1598_uc009xyw.3_Missense_Mutation_p.E289D|KIAA1598_uc001lcz.4_Missense_Mutation_p.E289D|KIAA1598_uc010qso.2_Missense_Mutation_p.E229D|KIAA1598_uc010qsp.1_Missense_Mutation_p.E289D|KIAA1598_uc010qsq.1_Missense_Mutation_p.E229D|KIAA1598_uc001lcy.4_Missense_Mutation_p.E259D	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	289					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTCTTCTAATTCTTTGACCT	0.308													A	118689505	T	A	118689505	3	1	268	1	0	0	0	0	1	0	0	0	8246	1490	52	5	1060	5	KIAA1598	10	118689505	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	22898111	118689505	16845242	29	18794											
OR5D16	390144	broad.mit.edu	37	11	55606593	55606593	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr11:55606593T>A	uc010rio.2	+	0	366	c.366T>A	c.(364-366)taT>taA	p.Y122*		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGATGGCCTATGACCACTTTG	0.433													A	55606593	T	A	55606593	4	1	268	1	0	0	0	0	0	1	0	0	11156	1471	51	5	368	5	OR5D16	11	55606593	Nonsense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08		55606593	79399923	30	18795											
LRRIQ1	84125	broad.mit.edu	37	12	85466877	85466877	+	Splice_Site	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:85466877G>T	uc001tac.3	+	11	2998	c.2887_splice	c.e11+1	p.C963_splice	LRRIQ1_uc021rbo.1_Splice_Site_p.C841_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	963										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)		TACTGGAATTGTAAGttgtgt	0.358													T	85466877	G	T	85466877	5	4	268	1	0	0	0	0	0	0	1	0	9029	1391	48	5	2926	5	LRRIQ1	12	85466877	Splice_Site	SNP	G	TCGA-76-6193-01A-11D-1696-08		85466877	48385018	31	18796											
NOS1	4842	broad.mit.edu	37	12	117723943	117723943	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:117723943C>T	uc001twn.2	-	5	1967	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	NOS1_uc021ren.1_Missense_Mutation_p.R83H|NOS1_uc021reo.1_Missense_Mutation_p.R83H|NOS1_uc001twm.2_Missense_Mutation_p.R419H	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	419					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCACACAGCGCGAGGCATT	0.557													T	117723943	C	T	117723943	3	4	268	1	0	0	0	0	1	0	0	0	10541	768	27	1	3144	1	NOS1	12	117723943	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	32257066	117723943	16127952	32	18797											
ACADS	35	broad.mit.edu	37	12	121164991	121164991	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:121164991A>G	uc001tza.4	+	2	328	c.210_splice	c.e2+1	p.Q70_splice	ACADS_uc010szl.1_Splice_Site_p.Q70_splice	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	70						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCAGCGGCTCAGGTGAGAGTG	0.567													G	121164991	A	G	121164991	3	3	268	1	0	0	0	0	1	0	0	0	114	202	7	4	215	4	ACADS	12	121164991	Missense_Mutation	SNP	A	TCGA-76-6193-01A-11D-1696-08	3441048	121164991	12686904	33	18798											
RB1	5925	broad.mit.edu	37	13	49039379	49039379	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr13:49039379C>T	uc001vcb.3	+	22	2530	c.2364C>T	c.(2362-2364)agC>agT	p.S788S		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	788	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.R787*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTCGAAGCCCTTACAAGT	0.403		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	49039379	C	T	49039379	2	4	268	1	0	0	0	0	0	0	0	1	13098	738	26	3		3	RB1	13	49039379	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08		49039379	66130499	34	18799											
PYGO1	26108	broad.mit.edu	37	15	55838924	55838927	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr15:55838924_55838927delTGAC	uc002adf.1	-	2	554_557	c.554_557delGTCA	c.(553-558)agtcaafs	p.S185fs	PYGO1_uc010bfl.1_Frame_Shift_Del_p.S185fs	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	185	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGGAGGAATTTGACTGAAATTTTC	0.333													-	55838927	TGAC	-	55838924	7	5	268	1	0	1	0	1	0	0	0	0	12863	1812	63	0	706	0	PYGO1	15	55838924	Frame_Shift_Del	DEL	TGAC	TCGA-76-6193-01A-11D-1696-08		55838924	46692468	35	18800											
MAPK3	5595	broad.mit.edu	37	16	30128054	30128054	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr16:30128054G>A	uc002dws.3	-	7	1175	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Missense_Mutation_p.R245W|MAPK3_uc002dwv.4_Missense_Mutation_p.R315W|MAPK3_uc002dwt.3_3'UTR	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	359					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	p.R359W(1)								Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TCCTTCAGCCGCTCCTTAGGT	0.642													A	30128054	G	A	30128054	3	1	268	1	0	0	0	0	1	0	0	0	9279	1086	38	1	68	1	MAPK3	16	30128054	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		30128054	60226699	36	18801											
SLC12A3	6559	broad.mit.edu	37	16	56913524	56913524	+	Missense_Mutation	SNP	C	C	T	rs139743444	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr16:56913524C>T	uc002ekd.4	+	10	1435	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	SLC12A3_uc010ccm.3_Missense_Mutation_p.A469V|SLC12A3_uc010ccn.3_Missense_Mutation_p.A468V	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	469					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTCTCCTCTGCCCTGGCCTGC	0.632													T	56913524	C	T	56913524	3	4	268	1	0	0	0	0	1	0	0	0	14384	739	26	3	1448	3	SLC12A3	16	56913524	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	26785470	56913524	33441229	37	18802											
C17orf85	55421	broad.mit.edu	37	17	3721586	3721586	+	Silent	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:3721586G>A	uc010ckl.1	-	9	1304	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	C17orf85_uc002fwr.2_Silent_p.D137D|C17orf85_uc002fwq.2_Silent_p.D147D	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	427							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATTCCACTTCGTCAGCATACA	0.328													A	3721586	G	A	3721586	2	1	268	1	0	0	0	0	0	0	0	1	1888	1136	40	1		1	C17orf85	17	3721586	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08		3721586	77473624	38	18803											
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7577551C>T	uc002gim.2	-	6	924	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	TP53_uc002gig.1_Missense_Mutation_p.G244S|TP53_uc002gih.3_Missense_Mutation_p.G244S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G112S|TP53_uc010cnf.1_Missense_Mutation_p.G112S|TP53_uc002gii.1_Missense_Mutation_p.G112S|TP53_uc010cni.1_Missense_Mutation_p.G244S|TP53_uc010cnh.1_Missense_Mutation_p.G244S|TP53_uc002gij.2_Missense_Mutation_p.G244S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G151S|TP53_uc002gio.2_Missense_Mutation_p.G112S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; 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.G244C(82)|p.G244S(75)|p.G244D(42)|p.G244V(14)|p.G244G(13)|p.M243L(10)|p.G244R(10)|p.G244fs*3(9)|p.G244A(9)|p.0?(8)|p.M243I(7)|p.M243T(5)|p.?(5)|p.G151C(4)|p.G244fs*4(4)|p.M243V(3)|p.G244fs*19(2)|p.G244fs*17(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.M243K(2)|p.M243R(2)|p.G244del(2)|p.M243fs*18(2)|p.M243_G244>IC(2)|p.S241_G245delSCMGG(2)|p.G244_M246del(1)|p.Y236_M243delYMCNSSCM(1)|p.G151R(1)|p.G151S(1)|p.G151fs*4(1)|p.G244_M246>V(1)|p.M243fs*4(1)|p.C242fs*98(1)|p.G244E(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)		TTCATGCCGCCCATGCAGGAA	0.582		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)			T	7577551	C	T	7577551	3	4	268	1	0	0	0	0	1	0	0	0	16378	623	22	3	560	3	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	3855965	7577551	73617659	39	18804											
TP53	7157	broad.mit.edu	37	17	7578464	7578464	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7578464G>A	uc002gim.2	-	4	660	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	TP53_uc002gig.1_Missense_Mutation_p.R156C|TP53_uc002gih.3_Missense_Mutation_p.R156C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R24C|TP53_uc010cnf.1_Missense_Mutation_p.R24C|TP53_uc002gii.1_Missense_Mutation_p.R24C|TP53_uc010cni.1_Missense_Mutation_p.R156C|TP53_uc010cnh.1_Missense_Mutation_p.R156C|TP53_uc002gij.2_Missense_Mutation_p.R156C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R63C|TP53_uc002gio.2_Missense_Mutation_p.R24C|TP53_uc010vug.2_Missense_Mutation_p.R117C	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.R156P(24)|p.R156fs*14(20)|p.T155N(20)|p.T155P(16)|p.T155I(12)|p.R156H(10)|p.0?(8)|p.T155A(8)|p.R156S(6)|p.R156G(6)|p.?(5)|p.R156fs*25(5)|p.T155T(5)|p.R156_I162delRVRAMAI(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.R156C(4)|p.R156R(3)|p.R156L(3)|p.T155_R156delTR(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156del(2)|p.G154fs*14(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.R156_V157del(2)|p.T155_A161delTRVRAMA(2)|p.G154_R156delGTR(2)|p.T155S(2)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*20(1)|p.R156_V157insV(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)		GCGCGGACGCGGGTGCCGGGC	0.612		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)			A	7578464	G	A	7578464	3	1	268	1	0	0	0	0	1	0	0	0	16378	1116	39	2	832	2	TP53	17	7578464	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	913	7578464	73616746	40	18805	25	2									
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7578466G>T	uc002gim.2	-	4	658	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)			T	7578466	G	T	7578466	3	4	268	1	0	0	0	0	1	0	0	0	16378	1261	44	5	834	5	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	2	7578466	73616744	41	18806	25	2									
ALOX15B	247	broad.mit.edu	37	17	7942479	7942479	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7942479C>T	uc002gju.3	+	0	122	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ALOX15B_uc002gjv.3_Silent_p.A2A|ALOX15B_uc002gjw.3_Silent_p.A2A|ALOX15B_uc010vun.2_Silent_p.A2A|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	2	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCAGCATGGCCGAGTTCAGGG	0.652													T	7942479	C	T	7942479	2	4	268	1	0	0	0	0	0	0	0	1	539	639	23	2		2	ALOX15B	17	7942479	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	364013	7942479	73252731	42	18807											
UBC	7316	broad.mit.edu	37	17	21731124	21731124	+	Silent	SNP	C	C	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:21731124C>A	uc002gyy.3	+	1	551	c.426C>A	c.(424-426)acC>acA	p.T142T				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	294	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AAGAGTCGACCCTGCATCTGG	0.567													A	21731124	C	A	21731124	2	1	268	1	0	0	0	0	0	0	0	1	16839	638	22	5		5	UBC	17	21731124	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	13788645	21731124	59464086	43	18808											
BPTF	2186	broad.mit.edu	37	17	65924656	65924656	+	Silent	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:65924656A>G	uc002jgf.3	+	15	5998	c.5937A>G	c.(5935-5937)caA>caG	p.Q1979Q	BPTF_uc002jge.3_Silent_p.Q2105Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2105					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAACATTCCAACAAAACAAGA	0.393													G	65924656	A	G	65924656	2	3	268	1	0	0	0	0	0	0	0	1	1495	40	2	4		4	BPTF	17	65924656	Silent	SNP	A	TCGA-76-6193-01A-11D-1696-08	44193532	65924656	15270554	44	18809											
MUC16	94025	broad.mit.edu	37	19	9049260	9049260	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:9049260G>A	uc002mkp.3	-	4	32575	c.32371C>T	c.(32371-32373)Cgg>Tgg	p.R10791W		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10793	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						GTCACCAACCGTGATACAGCA	0.483													A	9049260	G	A	9049260	3	1	268	1	0	0	0	0	1	0	0	0	9973	1144	40	1	11472	1	MUC16	19	9049260	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		9049260	50079723	45	18810											
CASP14	23581	broad.mit.edu	37	19	15164396	15164396	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:15164396G>T	uc010dzv.2	+	2	343	c.131G>T	c.(130-132)cGg>cTg	p.R44L		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	44					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.R44Q(2)|p.R44W(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CACATGTTTCGGCAGCTGAGA	0.527													T	15164396	G	T	15164396	3	4	268	1	0	0	0	0	1	0	0	0	2670	1116	39	5	137	5	CASP14	19	15164396	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	6115136	15164396	43964587	46	18811											
PPFIA3	8541	broad.mit.edu	37	19	49651354	49651354	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:49651354C>T	uc002pmr.3	+	23	3182	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.G809G|PPFIA3_uc002pmt.3_Silent_p.G89G|PPFIA3_uc002pmu.1_5'UTR	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	950						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGCATATGGCGACATGAACC	0.617													T	49651354	C	T	49651354	2	4	268	1	0	0	0	0	0	0	0	1	12311	755	27	1		1	PPFIA3	19	49651354	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	34486958	49651354	9477629	47	18812											
PDYN	5173	broad.mit.edu	37	20	1961151	1961151	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:1961151C>T	uc010gaj.3	-	2	825	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.G195R|PDYN_uc021vzt.1_Missense_Mutation_p.G195R|PDYN_uc021vzu.1_Missense_Mutation_p.G195R|PDYN_uc002wfv.3_Missense_Mutation_p.G195R	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	195					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.D194E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGCTATCCCCGTCCCCCTCC	0.597													T	1961151	C	T	1961151	3	4	268	1	0	0	0	0	1	0	0	0	11699	652	23	2	185	2	PDYN	20	1961151	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		1961151	61064369	48	18813											
RALGAPA2	57186	broad.mit.edu	37	20	20493649	20493649	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:20493649G>C	uc002wrz.3	-	31	4507	c.4364C>G	c.(4363-4365)tCt>tGt	p.S1455C	RALGAPA2_uc002wry.3_Missense_Mutation_p.S1070C|RALGAPA2_uc010zsg.2_Missense_Mutation_p.S903C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1455					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATCAGAGAGAGAGCCCACTGG	0.478													C	20493649	G	C	20493649	3	2	268	1	0	0	0	0	1	0	0	0	13014	942	33	5	1289	5	RALGAPA2	20	20493649	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	18532498	20493649	42531871	49	18814											
RALGAPB	57148	broad.mit.edu	37	20	37182634	37182634	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:37182634G>A	uc002xiw.3	+	21	3544	c.3287G>A	c.(3286-3288)tGc>tAc	p.C1096Y	RALGAPB_uc002xix.3_Missense_Mutation_p.C1092Y|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Missense_Mutation_p.C874Y	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1096					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTTACGGATTGCAAGCCCCCG	0.478													A	37182634	G	A	37182634	3	1	268	1	0	0	0	0	1	0	0	0	13015	1319	46	3	3369	3	RALGAPB	20	37182634	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	16688985	37182634	25842886	50	18815											
LAMA5	3911	broad.mit.edu	37	20	60911477	60911477	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:60911477C>T	uc002ycq.3	-	17	2309	c.2242G>A	c.(2242-2244)Gct>Act	p.A748T	LAMA5_uc021wfw.1_Missense_Mutation_p.A748T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	748	Laminin EGF-like 9.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCACGTGAGCCCGGCACATA	0.642													T	60911477	C	T	60911477	3	4	268	1	0	0	0	0	1	0	0	0	8609	739	26	3	9097	3	LAMA5	20	60911477	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	23728843	60911477	2114043	51	18816											
APOBEC3F	200316	broad.mit.edu	37	22	39448100	39448100	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr22:39448100C>A	uc021wpr.1	+						APOBEC3F_uc003aww.3_Missense_Mutation_p.H249N	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.						base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GACCCATTGTCATGCAGAAAG	0.572													A	39448100	C	A	39448100	3	1	268	1	0	0	0	0	1	0	0	0	793	826	29	5	906	5	APOBEC3F	22	39448100	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		39448100	11856466	52	18817											
DCAF12L1	139170	broad.mit.edu	37	X	125685588	125685588	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chrX:125685588C>T	uc022cds.1	-	0	1004	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	DCAF12L1_uc004eul.3_Missense_Mutation_p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	335										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTCCTGGCGCAGATCCAG	0.597													T	125685588	C	T	125685588	3	4	268	1	0	0	0	0	1	0	0	0	4264	768	27	1	391	1	DCAF12L1	23	125685588	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		125685588	29584972	53	18818											
VAMP7	6845	broad.mit.edu	37	X	155169439	155169439	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chrX:155169439C>G	uc004fnr.3	+	6	754	c.576C>G	c.(574-576)atC>atG	p.I192M	VAMP7_uc011naa.2_Missense_Mutation_p.I153M|VAMP7_uc011nab.2_Missense_Mutation_p.I91M|VAMP7_uc004fnt.3_Missense_Mutation_p.I151M|VAMP7_uc004fns.3_Missense_Mutation_p.H170D|VAMP7_uc011nac.2_Missense_Mutation_p.I125M	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	192					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCACTATTATCATCATCATCG	0.333													G	155169439	C	G	155169439	3	3	268	1	0	0	0	0	1	0	0	0	17114	826	29	5	598	5	VAMP7	23	155169439	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	29483851	155169439	101121	54	18819											
CYP4B1	1580	broad.mit.edu	37	1	47282802	47282802	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:47282802C>T	uc001cqn.4	+	8	1240	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	CYP4B1_uc001cqm.4_Missense_Mutation_p.R385C|CYP4B1_uc009vym.3_Missense_Mutation_p.R371C|CYP4B1_uc010omk.2_Missense_Mutation_p.R222C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	385					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCAGGTGTACCGCCAGCTCAG	0.572													T	47282802	C	T	47282802	3	4	269	1	0	0	0	0	1	0	0	0	4185	652	23	2	1190	2	CYP4B1	1	47282802	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		47282802	201967819	1	18820											
PLXNA2	5362	broad.mit.edu	37	1	208269395	208269395	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:208269395T>G	uc001hgz.3	-	7	2719	c.1961A>C	c.(1960-1962)tAc>tCc	p.Y654S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	654					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTGCAGTTGTAAAACTTGAA	0.478													G	208269395	T	G	208269395	3	3	269	1	0	0	0	0	1	0	0	0	12120	1638	57	5	3823	5	PLXNA2	1	208269395	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	160986593	208269395	40981226	2	18821											
POTEF	728378	broad.mit.edu	37	2	130878084	130878084	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:130878084A>C	uc010fmh.2	-	2	405	c.5T>G	c.(4-6)gTg>gGg	p.V2G		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	2						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AACCTCAACCACCATCTGCTT	0.532													C	130878084	A	C	130878084	3	2	269	1	0	0	0	0	1	0	0	0	12265	159	6	5	3282	5	POTEF	2	130878084	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08		130878084	112321289	3	18822											
PRPF40A	55660	broad.mit.edu	37	2	153514467	153514467	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:153514467T>C	uc002tyh.4	-	24	2658	c.2636A>G	c.(2635-2637)gAc>gGc	p.D879G	PRPF40A_uc002tyg.4_Missense_Mutation_p.D335G|PRPF40A_uc010zcd.1_Missense_Mutation_p.D830G	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	906					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCTAGTTCTGTCTTTTTCACT	0.348													C	153514467	T	C	153514467	3	2	269	1	0	0	0	0	1	0	0	0	12571	1667	58	4	164	4	PRPF40A	2	153514467	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	22636383	153514467	89684906	4	18823											
CASP10	843	broad.mit.edu	37	2	202074219	202074219	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:202074219G>A	uc002uxj.1	+	8	1767	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.R383Q|CASP10_uc002uxk.1_Missense_Mutation_p.R407Q|CASP10_uc002uxl.2_Missense_Mutation_p.R450Q|CASP10_uc002uxm.2_Missense_Mutation_p.R407Q	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	450					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTATCCTTTCGGCATGTGGAG	0.488													A	202074219	G	A	202074219	3	1	269	1	0	0	0	0	1	0	0	0	2669	1116	39	2	1379	2	CASP10	2	202074219	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	48559752	202074219	41125154	5	18824											
TRIM71	131405	broad.mit.edu	37	3	32859711	32859711	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:32859711G>A	uc003cff.3	+	0	202	c.139G>A	c.(139-141)Ggg>Agg	p.G47R		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	47					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						gggcggcggcgggggccctgg	0.781													A	32859711	G	A	32859711	3	1	269	1	0	0	0	0	1	0	0	0	16541	1116	39	2	141	2	TRIM71	3	32859711	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		32859711	165162719	6	18825											
C3orf67	200844	broad.mit.edu	37	3	58870322	58870322	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:58870322G>A	uc003dkt.1	-	6	698	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.R5C	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	97										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TCAGTTTGGCGAAGTTTAGTC	0.408													A	58870322	G	A	58870322	3	1	269	1	0	0	0	0	1	0	0	0	2241	1058	37	2	1442	2	C3orf67	3	58870322	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	26010611	58870322	139152108	7	18826											
ROBO2	6092	broad.mit.edu	37	3	77629222	77629222	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:77629222C>A	uc011bgk.2	+	16	3108	c.2465C>A	c.(2464-2466)aCc>aAc	p.T822N	ROBO2_uc021xat.1_Missense_Mutation_p.T834N|ROBO2_uc003dpy.4_Missense_Mutation_p.T818N|ROBO2_uc003dpz.3_Missense_Mutation_p.T822N|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	818	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCAGCTAGTACCAGTGCAGGG	0.453													A	77629222	C	A	77629222	3	1	269	1	0	0	0	0	1	0	0	0	13514	507	18	5	2517	5	ROBO2	3	77629222	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	18758900	77629222	120393208	8	18827											
OR5K4	403278	broad.mit.edu	37	3	98073062	98073062	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:98073062G>A	uc011bgv.2	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCCTATGACCGCTATGTGGCC	0.473													A	98073062	G	A	98073062	3	1	269	1	0	0	0	0	1	0	0	0	11169	1087	38	1	367	1	OR5K4	3	98073062	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	20443840	98073062	99949368	9	18828											
CCDC80	151887	broad.mit.edu	37	3	112356885	112356885	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:112356885C>T	uc003dzf.3	-	1	2086	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	CCDC80_uc011bhv.2_Missense_Mutation_p.R623Q|CCDC80_uc003dzg.3_Missense_Mutation_p.R623Q|CCDC80_uc003dzh.1_Missense_Mutation_p.R623Q	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	623										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AAGGAGTCTTCGTTTGCCTTC	0.463													T	112356885	C	T	112356885	3	4	269	1	0	0	0	0	1	0	0	0	2854	884	31	2	1012	2	CCDC80	3	112356885	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	14283823	112356885	85665545	10	18829											
PLXND1	23129	broad.mit.edu	37	3	129297231	129297231	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:129297231C>T	uc003emx.2	-	8	2387	c.2287G>A	c.(2287-2289)Gtg>Atg	p.V763M		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	763					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCGTAGGCACGGGTGCCAGG	0.632													T	129297231	C	T	129297231	3	4	269	1	0	0	0	0	1	0	0	0	12127	536	19	1	3602	1	PLXND1	3	129297231	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	16940346	129297231	68725199	11	18830											
VPS8	23355	broad.mit.edu	37	3	184552450	184552450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:184552450delC	uc021xik.1	+	3	455	c.367delC	c.(367-369)cctfs	p.P123fs	VPS8_uc003fpb.1_Frame_Shift_Del_p.P123fs|VPS8_uc010hyd.1_Frame_Shift_Del_p.P123fs|VPS8_uc003fpc.1_Frame_Shift_Del_p.P123fs	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	123							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAAGAAATTACCTGATTCTTT	0.343													-	184552450	C	-	184552450	7	5	269	1	0	1	0	1	0	0	0	0	17215	507	18	0	381	0	VPS8	3	184552450	Frame_Shift_Del	DEL	C	TCGA-76-6280-01A-21D-1845-08	55255219	184552450	13469980	12	18831											
UGT2B10	7365	broad.mit.edu	37	4	69874575	69874575	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr4:69874575G>A	uc011cao.1	-	7	1301	c.1175_splice	c.e7+1	p.S392_splice	UGT2B10_uc011can.1_Splice_Site_p.S308_splice			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	436					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTCTACTCACGAAGGATCATT	0.368													A	69874575	G	A	69874575	3	1	269	1	0	0	0	0	1	0	0	0	16953	1072	37	2	1898	2	UGT2B10	4	69874575	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		69874575	121279701	13	18832											
NDST4	64579	broad.mit.edu	37	4	115891587	115891587	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr4:115891587A>G	uc003ibu.3	-	4	1900	c.1221_splice	c.e4+1	p.L407_splice	NDST4_uc010imw.3_Splice_Site	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	407	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGCTCACCAGTGCAAATTC	0.393													G	115891587	A	G	115891587	3	3	269	1	0	0	0	0	1	0	0	0	10258	202	7	4	1442	4	NDST4	4	115891587	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08	46017012	115891587	75262689	14	18833											
HEATR7B2	133558	broad.mit.edu	37	5	41058293	41058293	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr5:41058293C>T	uc003jmj.4	-	6	1118	c.628G>A	c.(628-630)Gtt>Att	p.V210I	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.V210I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	210							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGGGCCTTAACGATGCTCAAA	0.512													T	41058293	C	T	41058293	3	4	269	1	0	0	0	0	1	0	0	0	7035	536	19	1	4273	1	HEATR7B2	5	41058293	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		41058293	139856967	15	18834											
PIK3R1	5295	broad.mit.edu	37	5	67589634	67589635	+	In_Frame_Ins	INS	-	-	ATATGAAGA			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr5:67589634_67589635insATATGAAGA	uc003jva.3	+	10	1977_1978	c.1397_1398insATATGAAGA	c.(1396-1398)tta>ttATATGAAGAa	p.469_470insYEE	PIK3R1_uc003jvc.3_In_Frame_Ins_p.169_170insYEE|PIK3R1_uc003jvd.3_In_Frame_Ins_p.199_200insYEE|PIK3R1_uc003jve.3_In_Frame_Ins_p.148_149insYEE|PIK3R1_uc021xzn.1_In_Frame_Ins_p.106_107insYEE|PIK3R1_uc011crb.2_In_Frame_Ins_p.139_140insYEE	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	469					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D434_Q475del(2)|p.Y463_L466del(1)|p.Y467_E468insGEYDRLYE(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATGATAGATTATATGAAGAAT	0.287			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			ATATGAAGA	67589635	-	ATATGAAGA	67589634	7	5	269	1	0	1	1	0	0	0	0	0	11918	1764	61	0	1565	0	PIK3R1	5	67589634	In_Frame_Ins	INS	-	TCGA-76-6280-01A-21D-1845-08	26531341	67589634	113325626	16	18835											
PKHD1	5314	broad.mit.edu	37	6	51491840	51491840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51491840G>A	uc003pah.1	-	65	12016	c.11740C>T	c.(11740-11742)Cga>Tga	p.R3914*		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3914					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.R3913R(1)		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)					TGTGATTCTCGGCGTTTGGAT	0.438													A	51491840	G	A	51491840	4	1	269	1	0	0	0	0	0	1	0	0	11971	1124	39	2	492	2	PKHD1	6	51491840	Nonsense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		51491840	119623227	17	18836											
PKHD1	5314	broad.mit.edu	37	6	51918008	51918008	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51918008C>T	uc003pah.1	-	20	2282	c.2006G>A	c.(2005-2007)cGt>cAt	p.R669H	PKHD1_uc003pai.3_Missense_Mutation_p.R669H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	669					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			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)					CCCGAAGCAACGCACACAAGT	0.582													T	51918008	C	T	51918008	3	4	269	1	0	0	0	0	1	0	0	0	11971	536	19	1	10445	1	PKHD1	6	51918008	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	426168	51918008	119197059	18	18837											
PKHD1	5314	broad.mit.edu	37	6	51941107	51941107	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51941107C>T	uc003pah.1	-	5	691	c.415G>A	c.(415-417)Gtt>Att	p.V139I	PKHD1_uc003pai.3_Missense_Mutation_p.V139I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	139	IPT/TIG 2.				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.V139I(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)					ACTTGGTGAACGATGGGTGTC	0.393													T	51941107	C	T	51941107	3	4	269	1	0	0	0	0	1	0	0	0	11971	536	19	1	12096	1	PKHD1	6	51941107	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	23099	51941107	119173960	19	18838											
VGLL2	245806	broad.mit.edu	37	6	117589651	117589651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:117589651C>T	uc003pxn.3	+	1	594	c.388C>T	c.(388-390)Cga>Tga	p.R130*	VGLL2_uc003pxo.3_Nonsense_Mutation_p.R130*	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN	Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA.	130					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TGGGCCCTGGCGAGGTGAGTA	0.567													T	117589651	C	T	117589651	4	4	269	1	0	0	0	0	0	1	0	0	17156	760	27	1	394	1	VGLL2	6	117589651	Nonsense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	65648544	117589651	53525416	20	18839											
IGF2R	3482	broad.mit.edu	37	6	160506085	160506085	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:160506085G>A	uc003qta.3	+	40	6275	c.6127G>A	c.(6127-6129)Gcc>Acc	p.A2043T		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2043					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			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)		CTCTGAAAGGGCCAGCATTTG	0.517													A	160506085	G	A	160506085	3	1	269	1	0	0	0	0	1	0	0	0	7576	1203	42	3	6289	3	IGF2R	6	160506085	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	42916434	160506085	10608982	21	18840											
ZPBP	11055	broad.mit.edu	37	7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:50097612G>A	uc003tou.3	-	3	530	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ZPBP_uc010kyw.3_Missense_Mutation_p.R153C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	154					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294													A	50097612	G	A	50097612	3	1	269	1	0	0	0	0	1	0	0	0	18216	1145	40	1	615	1	ZPBP	7	50097612	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		50097612	109041051	22	18841											
NRCAM	4897	broad.mit.edu	37	7	107880546	107880546	+	Translation_Start_Site	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:107880546C>A	uc022aka.1	-	0					NRCAM_uc011kmk.2_5'UTR|NRCAM_uc003vfd.3_5'UTR|NRCAM_uc003vfe.3_5'UTR|NRCAM_uc003vfc.3_5'UTR	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.						angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACTGAATTTCCTTTTCTTCTT	0.383													A	107880546	C	A	107880546	1	1	269	1	0	0	0	0	0	0	0	0	10644	696	24	5		5	NRCAM	7	107880546	Translation_Start_Site	SNP	C	TCGA-76-6280-01A-21D-1845-08	57782934	107880546	51258117	23	18842											
GRM8	2918	broad.mit.edu	37	7	126173900	126173900	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:126173900C>T	uc003vlr.2	-	7	1847	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.P512P|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	512					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.H511P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGACAGACGCCGGGTGAGTAT	0.488										HNSCC(24;0.065)			T	126173900	C	T	126173900	2	4	269	1	0	0	0	0	0	0	0	1	6803	639	23	2		2	GRM8	7	126173900	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	18293354	126173900	32964763	24	18843											
SPTAN1	6709	broad.mit.edu	37	9	131381157	131381157	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr9:131381157C>T	uc004bvl.4	+	42	5735	c.5593C>T	c.(5593-5595)Cgg>Tgg	p.R1865W	SPTAN1_uc004bvm.4_Missense_Mutation_p.R1870W|SPTAN1_uc004bvn.4_Missense_Mutation_p.R1845W	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1865					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			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						TAGGGGTCAGCGGCTGGAAGA	0.438													T	131381157	C	T	131381157	3	4	269	1	0	0	0	0	1	0	0	0	15116	759	27	1	5778	1	SPTAN1	9	131381157	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		131381157	9832274	25	18844											
CACNA1B	774	broad.mit.edu	37	9	140777224	140777224	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr9:140777224T>C	uc004cog.3	+	2	564	c.419T>C	c.(418-420)aTc>aCc	p.I140T	AK128414_uc004cof.1_Intron|CACNA1B_uc022bqn.1_Missense_Mutation_p.I140T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	140					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTCATCGGGATCTTTTGCTTC	0.572													C	140777224	T	C	140777224	3	2	269	1	0	0	0	0	1	0	0	0	2539	1435	50	4	429	4	CACNA1B	9	140777224	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	9396067	140777224	436207	26	18845											
CACNB2	783	broad.mit.edu	37	10	18828173	18828173	+	Silent	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:18828173T>C	uc001ipr.2	+	13	1563	c.1503T>C	c.(1501-1503)gaT>gaC	p.D501D	CACNB2_uc001ipt.2_Silent_p.D463D|CACNB2_uc009xjz.1_Silent_p.D251D|CACNB2_uc001ips.2_Silent_p.D477D|CACNB2_uc001ipu.3_Silent_p.D473D|CACNB2_uc001ipv.3_Silent_p.D449D|CACNB2_uc009xka.2_Silent_p.D435D|CACNB2_uc001ipw.2_Silent_p.D408D|CACNB2_uc001ipx.2_Silent_p.D446D|CACNB2_uc001ipz.2_Silent_p.D423D|CACNB2_uc001ipy.2_Silent_p.D447D|CACNB2_uc010qco.1_Silent_p.D415D|CACNB2_uc001iqa.2_Silent_p.D453D|NSUN6_uc001iqb.3_Non-coding_Transcript	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	501				D -> H (in Ref. 3; AAD33729/AAD33730).	axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCAAGGTGATCAGAGGACTG	0.527													C	18828173	T	C	18828173	2	2	269	1	0	0	0	0	0	0	0	1	2553	1432	50	4		4	CACNB2	10	18828173	Silent	SNP	T	TCGA-76-6280-01A-21D-1845-08		18828173	116706574	27	18846											
ACTA2	59	broad.mit.edu	37	10	90707027	90707027	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:90707027G>A	uc001kfp.3	-	2	362	c.246C>T	c.(244-246)gaC>gaT	p.D82D	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Silent_p.D37D|ACTA2_uc001kfq.3_Silent_p.D82D|ACTA2_uc010qmz.1_Silent_p.D82D	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	82					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTCCATGTCGTCCCAGTTGG	0.502													A	90707027	G	A	90707027	2	1	269	1	0	0	0	0	0	0	0	1	192	1136	40	1		1	ACTA2	10	90707027	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08	71878854	90707027	44827720	28	18847											
HTR7	3363	broad.mit.edu	37	10	92616992	92616992	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:92616992C>T	uc001kha.3	-	0	680	c.437G>A	c.(436-438)gGc>gAc	p.G146D	HTR7_uc001kgz.3_Missense_Mutation_p.G146D|HTR7_uc001khb.3_Missense_Mutation_p.G146D	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	146					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GATCCACTTGCCCCCGATGAG	0.592													T	92616992	C	T	92616992	3	4	269	1	0	0	0	0	1	0	0	0	7452	739	26	3	1022	3	HTR7	10	92616992	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	1909965	92616992	42917755	29	18848											
OR52N1	79473	broad.mit.edu	37	11	5809262	5809262	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:5809262A>G	uc010qzo.2	-	0	785	c.785T>C	c.(784-786)tTt>tCt	p.F262S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		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)		ATGGTGTGTAAAGAAGGTAAA	0.453													G	5809262	A	G	5809262	3	3	269	1	0	0	0	0	1	0	0	0	11127	14	1	4	180	4	OR52N1	11	5809262	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08		5809262	129197254	30	18849											
NAV2	89797	broad.mit.edu	37	11	20065785	20065785	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:20065785G>A	uc010rdm.2	+	13	3596	c.3235G>A	c.(3235-3237)Gcc>Acc	p.A1079T	NAV2_uc001mpp.3_Missense_Mutation_p.A992T|NAV2_uc001mpr.4_Missense_Mutation_p.A1056T|NAV2_uc021qew.1_Missense_Mutation_p.A1056T|NAV2_uc001mpt.2_Missense_Mutation_p.A142T|NAV2_uc009yhx.3_Missense_Mutation_p.A142T|NAV2_uc009yhy.1_Missense_Mutation_p.A55T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1079						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAGCCTTCAGCCCCGGCAGG	0.567													A	20065785	G	A	20065785	3	1	269	1	0	0	0	0	1	0	0	0	10184	971	34	3	3325	3	NAV2	11	20065785	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	14256523	20065785	114940731	31	18850											
TM7SF2	7108	broad.mit.edu	37	11	64882420	64882420	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:64882420C>T	uc001ocv.3	+	4	1419	c.822C>T	c.(820-822)gaC>gaT	p.D274D	TM7SF2_uc001oct.3_Silent_p.D253D|TM7SF2_uc010rny.2_Silent_p.D137D|TM7SF2_uc001ocu.3_Silent_p.D253D|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	253					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCACACATGACGGGTTTGGCT	0.627													T	64882420	C	T	64882420	2	4	269	1	0	0	0	0	0	0	0	1	15971	535	19	1		1	TM7SF2	11	64882420	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	44816635	64882420	70124096	32	18851											
KCNE3	10008	broad.mit.edu	37	11	74168386	74168386	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:74168386G>A	uc021qng.1	-	0	223	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	KCNE3_uc001ovc.3_Missense_Mutation_p.L75F|KCNE3_uc001ovd.2_Missense_Mutation_p.L75F	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	75						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CCCAGGATGAGGCTGCCCACA	0.512													A	74168386	G	A	74168386	3	1	269	1	0	0	0	0	1	0	0	0	8024	1000	35	3	92	3	KCNE3	11	74168386	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	9285966	74168386	60838130	33	18852											
HIP1R	9026	broad.mit.edu	37	12	123339938	123339938	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr12:123339938G>A	uc001udj.1	+	10	1038	c.979G>A	c.(979-981)Gcg>Acg	p.A327T	HIP1R_uc001udg.1_Missense_Mutation_p.A315T|HIP1R_uc001udi.1_Missense_Mutation_p.A327T|HIP1R_uc001udk.1_5'Flank	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	327					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AGGGCCCCCCGCGGGGGAGCC	0.677													A	123339938	G	A	123339938	3	1	269	1	0	0	0	0	1	0	0	0	7115	1087	38	1	1021	1	HIP1R	12	123339938	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		123339938	10511957	34	18853											
TNFRSF19	55504	broad.mit.edu	37	13	24233260	24233260	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:24233260G>A	uc001uov.2	+	5	721	c.517G>A	c.(517-519)Gtt>Att	p.V173I	TNFRSF19_uc001uot.3_Missense_Mutation_p.V173I|TNFRSF19_uc010tcu.2_Missense_Mutation_p.V41I|TNFRSF19_uc001uow.3_Missense_Mutation_p.V173I	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	173					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GCTGGCTGCCGTTATCTGCAG	0.577													A	24233260	G	A	24233260	3	1	269	1	0	0	0	0	1	0	0	0	16289	1145	40	1	535	1	TNFRSF19	13	24233260	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		24233260	90936618	35	18854											
COG6	57511	broad.mit.edu	37	13	40268775	40268775	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:40268775G>T	uc001uxh.2	+	11	1179	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	COG6_uc001uxi.2_Missense_Mutation_p.R308L|COG6_uc010acb.2_Missense_Mutation_p.R360L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	360					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAATAGGTTCGAATTGAGCAA	0.274													T	40268775	G	T	40268775	3	4	269	1	0	0	0	0	1	0	0	0	3662	1058	37	5	1125	5	COG6	13	40268775	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	16035515	40268775	74901103	36	18855											
DGKH	160851	broad.mit.edu	37	13	42761271	42761271	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:42761271C>T	uc001uyl.2	+	13	1692	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	DGKH_uc010tfh.2_Missense_Mutation_p.A542V|DGKH_uc001uym.2_Missense_Mutation_p.A542V|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.A297V|DGKH_uc001uyo.2_Missense_Mutation_p.A406V|DGKH_uc010tfj.2_Missense_Mutation_p.A406V|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	542					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.A542V(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTAGCTGATGCCGTGGCCAGT	0.423													T	42761271	C	T	42761271	3	4	269	1	0	0	0	0	1	0	0	0	4470	739	26	3	1679	3	DGKH	13	42761271	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	2492496	42761271	72408607	37	18856											
OR4K1	79544	broad.mit.edu	37	14	20404282	20404282	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:20404282G>A	uc001vwj.2	+	0	516	c.457G>A	c.(457-459)Gtt>Att	p.V153I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCGGTGGGCGTTCTTCATTC	0.453													A	20404282	G	A	20404282	3	1	269	1	0	0	0	0	1	0	0	0	11067	1145	40	1	459	1	OR4K1	14	20404282	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		20404282	86945258	38	18857											
NIN	51199	broad.mit.edu	37	14	51239180	51239180	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:51239180C>T	uc001wyi.3	-	8	1011	c.820G>A	c.(820-822)Gat>Aat	p.D274N	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.D274N|NIN_uc001wyk.3_Missense_Mutation_p.D274N|NIN_uc001wyo.3_Missense_Mutation_p.D274N|NIN_uc001wyp.1_Missense_Mutation_p.D236N	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	274					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCACTCTCATCGAAAGACTGG	0.502			T	PDGFRB	MPD								T	51239180	C	T	51239180	3	4	269	1	0	0	0	0	1	0	0	0	10417	884	31	2	5821	2	NIN	14	51239180	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	30834898	51239180	56110360	39	18858											
SYT16	83851	broad.mit.edu	37	14	62567295	62567295	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:62567295G>A	uc001xfu.1	+	5	2005	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H	SYT16_uc010tse.1_Missense_Mutation_p.R161H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	603	C2 2.							p.R583H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACTATGAAGCGTAAAGAGATG	0.483													A	62567295	G	A	62567295	3	1	269	1	0	0	0	0	1	0	0	0	15469	1145	40	1	1830	1	SYT16	14	62567295	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	11328115	62567295	44782245	40	18859											
DCAF5	8816	broad.mit.edu	37	14	69520671	69520671	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:69520671C>T	uc001xkp.3	-	8	2951	c.2732G>A	c.(2731-2733)aGg>aAg	p.R911K	DCAF5_uc001xkq.3_Missense_Mutation_p.R910K	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	911						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATGAACAGCCCTGCTACTATC	0.473													T	69520671	C	T	69520671	3	4	269	1	0	0	0	0	1	0	0	0	4273	681	24	3	100	3	DCAF5	14	69520671	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	6953376	69520671	37828869	41	18860											
EIF2AK4	440275	broad.mit.edu	37	15	40280263	40280263	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:40280263T>C	uc001zkm.1	+	14	2533	c.2483T>C	c.(2482-2484)cTt>cCt	p.L828P	EIF2AK4_uc010bbj.1_Missense_Mutation_p.L529P	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	828	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTCTGGAGGCTTTTTCGAGAG	0.393													C	40280263	T	C	40280263	3	2	269	1	0	0	0	0	1	0	0	0	4999	1609	56	4	2541	4	EIF2AK4	15	40280263	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08		40280263	62251129	42	18861											
EHD4	30844	broad.mit.edu	37	15	42193062	42193062	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:42193062G>A	uc001zot.3	-	5	1470	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	469	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592													A	42193062	G	A	42193062	2	1	269	1	0	0	0	0	0	0	0	1	4980	1136	40	1		1	EHD4	15	42193062	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08	1912799	42193062	60338330	43	18862											
CYP19A1	1588	broad.mit.edu	37	15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:51504611T>C	uc001zyz.4	-	9	1420	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	CYP19A1_uc001zza.4_Missense_Mutation_p.K390R|CYP19A1_uc001zzb.2_Missense_Mutation_p.K390R	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	390					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTTTGTCCCCTTTTTCACTGG	0.413													C	51504611	T	C	51504611	3	2	269	1	0	0	0	0	1	0	0	0	4148	1609	56	4	350	4	CYP19A1	15	51504611	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	9311549	51504611	51026781	44	18863											
CYP1A2	1544	broad.mit.edu	37	15	75045612	75045612	+	Splice_Site	SNP	G	G	A	rs56107638	byFrequency	TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:75045612G>A	uc002ayr.1	+	6	1317	c.1253_splice	c.e6+1	p.P418_splice		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	418					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ACCATGACCCGTGAGTACATA	0.493													A	75045612	G	A	75045612	5	1	269	1	0	0	0	0	0	0	1	0	4150	1159	40	1	1272	1	CYP1A2	15	75045612	Splice_Site	SNP	G	TCGA-76-6280-01A-21D-1845-08	23541001	75045612	27485780	45	18864											
SV2B	9899	broad.mit.edu	37	15	91801746	91801746	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:91801746C>A	uc002bqv.3	+	5	1771	c.880C>A	c.(880-882)Ctg>Atg	p.L294M	SV2B_uc002bqt.3_Missense_Mutation_p.L294M|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.L143M	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	294					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			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)			CATGGTGGCCCTGAAGTTCAT	0.567													A	91801746	C	A	91801746	3	1	269	1	0	0	0	0	1	0	0	0	15415	680	24	5	894	5	SV2B	15	91801746	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	16756134	91801746	10729646	46	18865	26	2									
SV2B	9899	broad.mit.edu	37	15	91801750	91801750	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:91801750A>G	uc002bqv.3	+	5	1775	c.884A>G	c.(883-885)aAg>aGg	p.K295R	SV2B_uc002bqt.3_Missense_Mutation_p.K295R|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.K144R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	295					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			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)			GTGGCCCTGAAGTTCATGCCA	0.567													G	91801750	A	G	91801750	3	3	269	1	0	0	0	0	1	0	0	0	15415	72	3	4	898	4	SV2B	15	91801750	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08	4	91801750	10729642	47	18866	26	2									
RNF40	9810	broad.mit.edu	37	16	30783282	30783282	+	Silent	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:30783282C>A	uc002dzq.3	+	17	3535	c.2715C>A	c.(2713-2715)ctC>ctA	p.L905L	RNF40_uc010caa.3_Silent_p.L905L|RNF40_uc010cab.3_Silent_p.L805L|RNF40_uc010vfa.2_Silent_p.L237L|RNF40_uc010vfb.2_Silent_p.L597L|RNF40_uc002dzr.3_Silent_p.L905L|RNF40_uc010vfc.1_Silent_p.L237L	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	905					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCTTCAACCTCAAGAGGGCTC	0.647													A	30783282	C	A	30783282	2	1	269	1	0	0	0	0	0	0	0	1	13493	813	29	5		5	RNF40	16	30783282	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08		30783282	59571471	48	18867											
MMP15	4324	broad.mit.edu	37	16	58079116	58079116	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:58079116C>T	uc002ena.3	+	9	2749	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	592					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGCAGAGGGCGACGTGGGGG	0.736													T	58079116	C	T	58079116	2	4	269	1	0	0	0	0	0	0	0	1	9654	755	27	1		1	MMP15	16	58079116	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	27295834	58079116	32275637	49	18868											
ATP2C2	9914	broad.mit.edu	37	16	84449185	84449185	+	Silent	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:84449185C>A	uc010chj.3	+	6	701	c.612C>A	c.(610-612)atC>atA	p.I204I	ATP2C2_uc002fhx.3_Silent_p.I204I|ATP2C2_uc002fhy.3_Silent_p.I221I|ATP2C2_uc002fhz.3_Silent_p.I53I	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	204					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGCAGACATCCGACTCACTG	0.507													A	84449185	C	A	84449185	2	1	269	1	0	0	0	0	0	0	0	1	1144	845	30	5		5	ATP2C2	16	84449185	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	26370069	84449185	5905568	50	18869											
TRPV2	51393	broad.mit.edu	37	17	16323552	16323552	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:16323552G>A	uc002gpy.3	+	2	723	c.324G>A	c.(322-324)tcG>tcA	p.S108S	TRPV2_uc002gpz.3_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	108	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.S108S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCACCGACTCGGAATACACAG	0.582													A	16323552	G	A	16323552	2	1	269	1	0	0	0	0	0	0	0	1	16593	1103	39	2		2	TRPV2	17	16323552	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08		16323552	64871658	51	18870											
MAP2K3	5606	broad.mit.edu	37	17	21201792	21201792	+	Splice_Site	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:21201792G>A	uc002gys.3	+	2	381	c.116_splice	c.e2+1	p.T39_splice	MAP2K3_uc002gyt.3_Splice_Site_p.T10_splice|MAP2K3_uc021tsq.1_Splice_Site_p.T10_splice|MAP2K3_uc021tsr.1_Splice_Site_p.T10_splice	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	39					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAACCCCACGTGAGTCTGCC	0.577													A	21201792	G	A	21201792	5	1	269	1	0	0	0	0	0	0	1	0	9238	1159	40	1	123	1	MAP2K3	17	21201792	Splice_Site	SNP	G	TCGA-76-6280-01A-21D-1845-08	4878240	21201792	59993418	52	18871											
TMEM132E	124842	broad.mit.edu	37	17	32953325	32953325	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:32953325C>A	uc002hif.3	+	1	575	c.247C>A	c.(247-249)Cag>Aag	p.Q83K		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	83						integral to membrane				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)		CGTGGTGTTCCAGACCAAGGA	0.697													A	32953325	C	A	32953325	3	1	269	1	0	0	0	0	1	0	0	0	16045	595	21	5	253	5	TMEM132E	17	32953325	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	11751533	32953325	48241885	53	18872											
MAPT	4137	broad.mit.edu	37	17	44067273	44067273	+	Silent	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:44067273G>A	uc002ijr.4	+	7	1534	c.1212G>A	c.(1210-1212)ttG>ttA	p.L404L	MAPT_uc010dau.3_Silent_p.L404L|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	404					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTAAAACCTTGAAAAATAGGC	0.463													A	44067273	G	A	44067273	2	1	269	1	0	0	0	0	0	0	0	1	9297	1281	45	3		3	MAPT	17	44067273	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08	11113948	44067273	37127937	54	18873											
KIF2B	84643	broad.mit.edu	37	17	51901778	51901778	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:51901778C>T	uc002iua.2	+	0	1540	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	462	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.S461T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAAGGCCAGCCGGAAAAGGCA	0.488													T	51901778	C	T	51901778	3	4	269	1	0	0	0	0	1	0	0	0	8298	643	23	2	1386	2	KIF2B	17	51901778	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	7834505	51901778	29293432	55	18874											
CLTC	1213	broad.mit.edu	37	17	57738898	57738898	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:57738898T>C	uc002ixr.1	+	7	1717	c.1274T>C	c.(1273-1275)cTt>cCt	p.L425P	CLTC_uc002ixp.3_Missense_Mutation_p.L421P|CLTC_uc002ixq.1_Missense_Mutation_p.L421P	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	421	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		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTGGTATCCTTTTGGACCAG	0.458			T	"ALK, TFE3"	"ALCL, renal "								C	57738898	T	C	57738898	3	2	269	1	0	0	0	0	1	0	0	0	3566	1609	56	4	1292	4	CLTC	17	57738898	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	5837120	57738898	23456312	56	18875											
AANAT	15	broad.mit.edu	37	17	74465804	74465804	+	Missense_Mutation	SNP	G	G	A	rs72466447		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:74465804G>A	uc021udg.1	+	6	1518	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	AANAT_uc002jro.3_Missense_Mutation_p.V126M|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	126	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						TGTGCTGGCCGTGCACCGCGC	0.692													A	74465804	G	A	74465804	3	1	269	1	0	0	0	0	1	0	0	0	18	1145	40	1	525	1	AANAT	17	74465804	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	16726906	74465804	6729406	57	18876											
RAC3	5881	broad.mit.edu	37	17	79991354	79991354	+	Silent	SNP	C	C	T			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:79991354C>T	uc002kdf.3	+	4	433	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_005052	NP_005043	P60763	RAC3_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) (RAC3), mRNA.	109					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCACACGCCCATCCTCCTGG	0.672													T	79991354	C	T	79991354	2	4	269	1	0	0	0	0	0	0	0	1	12976	581	21	3		3	RAC3	17	79991354	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	5525550	79991354	1203856	58	18877											
ADNP2	22850	broad.mit.edu	37	18	77893797	77893797	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr18:77893797C>G	uc002lnw.3	+	3	956	c.501C>G	c.(499-501)taC>taG	p.Y167*		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	167					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			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)		ACACTTTGTACTACAGCATGA	0.373													G	77893797	C	G	77893797	4	3	269	1	0	0	0	0	0	1	0	0	324	576	20	5	511	5	ADNP2	18	77893797	Nonsense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		77893797	183451	59	18878											
TJP3	27134	broad.mit.edu	37	19	3731941	3731941	+	Missense_Mutation	SNP	G	G	A	rs146857520		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:3731941G>A	uc010xhv.2	+	4	679	c.679G>A	c.(679-681)Gtc>Atc	p.V227I	TJP3_uc010xhs.2_Missense_Mutation_p.V208I|TJP3_uc010xht.2_Missense_Mutation_p.V172I|TJP3_uc010xhu.2_Missense_Mutation_p.V217I|TJP3_uc010xhw.2_Missense_Mutation_p.V227I	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	208	PDZ 2.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGTTTGGCGTCAAGCTGGG	0.592													A	3731941	G	A	3731941	3	1	269	1	0	0	0	0	1	0	0	0	15928	1145	40	1	697	1	TJP3	19	3731941	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		3731941	55397042	60	18879											
ZNF700	90592	broad.mit.edu	37	19	12059987	12059988	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:12059987_12059988delCT	uc010xme.2	+	4	1393_1394	c.1202_1203delCT	c.(1201-1203)actfs	p.T401fs	ZNF700_uc002msu.3_Frame_Shift_Del_p.T383fs|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CATGAAAAAACTCACACTGGAG	0.371													-	12059988	CT	-	12059987	7	5	269	1	0	1	0	1	0	0	0	0	18101	565	20	0	1162	0	ZNF700	19	12059987	Frame_Shift_Del	DEL	CT	TCGA-76-6280-01A-21D-1845-08	8328046	12059987	47068996	61	18880											
CILP2	148113	broad.mit.edu	37	19	19656132	19656132	+	Silent	SNP	C	C	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:19656132C>G	uc002nmw.4	+	7	2881	c.2796C>G	c.(2794-2796)ctC>ctG	p.L932L	CILP2_uc002nmv.4_Silent_p.L926L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	926						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTGGCGATCTCCTGGCCTGGT	0.647													G	19656132	C	G	19656132	2	3	269	1	0	0	0	0	0	0	0	1	3430	842	30	5		5	CILP2	19	19656132	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	7596145	19656132	39472851	62	18881											
CD22	933	broad.mit.edu	37	19	35837131	35837131	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:35837131G>A	uc010edt.3	+	12	2489	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	CD22_uc010edu.3_Missense_Mutation_p.R714H|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.R625H|CD22_uc010xst.2_Missense_Mutation_p.R630H|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	802					cell adhesion		protein binding|sugar binding	p.R802C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTGCACAAGCGCCAAGTGGTA	0.597													A	35837131	G	A	35837131	3	1	269	1	0	0	0	0	1	0	0	0	2985	1087	38	1	2451	1	CD22	19	35837131	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	16180999	35837131	23291852	63	18882											
ADCK4	79934	broad.mit.edu	37	19	41209757	41209757	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:41209757C>G	uc002oor.2	-	7	882	c.580G>C	c.(580-582)Gtt>Ctt	p.V194L	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.2_Missense_Mutation_p.V153L	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	194	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			tcttcaagaactctcTGCGGG	0.592													G	41209757	C	G	41209757	3	3	269	1	0	0	0	0	1	0	0	0	290	565	20	5	1086	5	ADCK4	19	41209757	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	5372626	41209757	17919226	64	18883											
LILRB3	11026	broad.mit.edu	37	19	54800078	54800078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:54800078G>A	uc002qfd.3	-	6	1380	c.1288C>T	c.(1288-1290)Caa>Taa	p.Q430*	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Nonsense_Mutation_p.Q366*	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	429					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			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)		GACTTGTTTTGTGGTGGGCTG	0.507													A	54800078	G	A	54800078	4	1	269	1	0	0	0	0	0	1	0	0	8792	1386	48	3		3	LILRB3	19	54800078	Nonsense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	13590321	54800078	4328905	65	18884											
TPX2	22974	broad.mit.edu	37	20	30347914	30347914	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:30347914T>C	uc002wwp.1	+	3	859	c.161T>C	c.(160-162)cTt>cCt	p.L54P	TPX2_uc010gdv.1_Missense_Mutation_p.L54P	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	54					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACTGGAGGGCTTTTTCAGGGC	0.413													C	30347914	T	C	30347914	3	2	269	1	0	0	0	0	1	0	0	0	16429	1609	56	4	167	4	TPX2	20	30347914	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08		30347914	32677606	66	18885											
NFATC2	4773	broad.mit.edu	37	20	50139989	50139989	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:50139989G>A	uc002xwd.3	-	1	1011	c.791C>T	c.(790-792)cCg>cTg	p.P264L	NFATC2_uc002xwc.3_Missense_Mutation_p.P264L|NFATC2_uc010zyv.2_Missense_Mutation_p.P45L|NFATC2_uc010zyw.2_Missense_Mutation_p.P45L|NFATC2_uc002xwe.3_Missense_Mutation_p.P244L|NFATC2_uc010zyx.2_Missense_Mutation_p.P244L|NFATC2_uc010zyy.2_Missense_Mutation_p.P45L|NFATC2_uc010zyz.2_Missense_Mutation_p.P45L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	264	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCTCCGGGCGGCAGGGCAAC	0.751													A	50139989	G	A	50139989	3	1	269	1	0	0	0	0	1	0	0	0	10362	1116	39	2	2070	2	NFATC2	20	50139989	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	19792075	50139989	12885531	67	18886											
RPS21	6227	broad.mit.edu	37	20	60963374	60963374	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:60963374G>C	uc002yct.3	+	3					RPS21_uc002ycr.3_Missense_Mutation_p.D66H|RPS21_uc002ycs.3_Missense_Mutation_p.D66H			P63220	RS21_HUMAN	Homo sapiens ribosomal protein S21 (RPS21), mRNA.						endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGTGAGTCAGATGATTCCAT	0.507													C	60963374	G	C	60963374	3	2	269	1	0	0	0	0	1	0	0	0	13633	942	33	5	210	5	RPS21	20	60963374	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	10823385	60963374	2062146	68	18887											
AADACL3	126767	broad.mit.edu	37	1	12785683	12785683	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr1:12785683T>C	uc009vnn.1	+	3	1006	c.773T>C	c.(772-774)gTa>gCa	p.V258A	AADACL3_uc001aug.1_Missense_Mutation_p.V188A	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	258							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGGAAGTAAGTGTTGTC	0.502													C	12785683	T	C	12785683	3	2	270	1	0	0	0	0	1	0	0	0	12	1638	57	4	791	4	AADACL3	1	12785683	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08		12785683	236464938	1	18888											
C1orf129	80133	broad.mit.edu	37	1	170964598	170964598	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr1:170964598C>T	uc010plz.2	+	12	1417	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	C1orf129_uc001ghg.3_Silent_p.P421P|C1orf129_uc009wvy.3_Silent_p.P228P	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	421							binding	p.P421S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTATTTCCCCCAGCTCTTGA	0.473													T	170964598	C	T	170964598	2	4	270	1	0	0	0	0	0	0	0	1	1996	610	22	3		3	C1orf129	1	170964598	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	158178915	170964598	78286023	2	18889											
MFSD9	84804	broad.mit.edu	37	2	103335367	103335367	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:103335367G>A	uc002tcb.2	-	5	1005	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.R252C	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	313					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ACCCCAAAGCGCTCCTCCAGG	0.587													A	103335367	G	A	103335367	3	1	270	1	0	0	0	0	1	0	0	0	9539	1087	38	1	491	1	MFSD9	2	103335367	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		103335367	139864006	3	18890											
SLC5A7	60482	broad.mit.edu	37	2	108626710	108626710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:108626710delG	uc002tdv.3	+	8	1412	c.1136delG	c.(1135-1137)tggfs	p.W379fs	SLC5A7_uc010ywm.2_Frame_Shift_Del_p.W132fs|SLC5A7_uc010fjj.3_Frame_Shift_Del_p.W379fs|SLC5A7_uc010ywn.2_Frame_Shift_Del_p.W266fs	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	379					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.V378I(2)|p.V378V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAAATCGTTTGGGTTATGCGA	0.443													-	108626710	G	-	108626710	7	5	270	1	0	1	0	1	0	0	0	0	14670	1357	47	0	1166	0	SLC5A7	2	108626710	Frame_Shift_Del	DEL	G	TCGA-76-6282-01A-11D-1696-08	5291343	108626710	134572663	4	18891											
WNT10A	80326	broad.mit.edu	37	2	219746954	219746954	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:219746954T>C	uc002vjd.1	+	1	648	c.185T>C	c.(184-186)cTa>cCa	p.L62P		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	62					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGTGTGCCTAACATTGCCA	0.612													C	219746954	T	C	219746954	3	2	270	1	0	0	0	0	1	0	0	0	17379	1522	53	4	191	4	WNT10A	2	219746954	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	111120244	219746954	23452419	5	18892											
AGAP1	116987	broad.mit.edu	37	2	236659063	236659063	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:236659063C>T	uc002vvs.3	+	5	1202	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	AGAP1_uc002vvt.3_Silent_p.L202L|AGAP1_uc021vyp.1_Silent_p.L202L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	202	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTCCAACGACCTGAAACGGTG	0.527													T	236659063	C	T	236659063	2	4	270	1	0	0	0	0	0	0	0	1	366	680	24	3		3	AGAP1	2	236659063	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	16912109	236659063	6540310	6	18893											
FGD5	152273	broad.mit.edu	37	3	14862054	14862054	+	Silent	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:14862054T>C	uc003bzc.3	+	0	1586	c.1476T>C	c.(1474-1476)taT>taC	p.Y492Y	FGD5_uc011avk.2_Silent_p.Y492Y	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	492					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGCCGGCTATGTCCCAGAAA	0.612													C	14862054	T	C	14862054	2	2	270	1	0	0	0	0	0	0	0	1	5836	1471	51	4		4	FGD5	3	14862054	Silent	SNP	T	TCGA-76-6282-01A-11D-1696-08		14862054	183160376	7	18894											
EFHB	151651	broad.mit.edu	37	3	19974766	19974766	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:19974766T>A	uc003cbl.4	-	0	941	c.745A>T	c.(745-747)Ata>Tta	p.I249L	EFHB_uc003cbm.3_Missense_Mutation_p.I119L	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	249					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAGAGTATATGGGTCTGATG	0.443													A	19974766	T	A	19974766	3	1	270	1	0	0	0	0	1	0	0	0	4945	1464	51	5	1808	5	EFHB	3	19974766	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	5112712	19974766	178047664	8	18895											
BOC	91653	broad.mit.edu	37	3	112997000	112997000	+	Missense_Mutation	SNP	G	G	A	rs149038528		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:112997000G>A	uc003dzx.3	+	9	2219	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	BOC_uc003dzy.3_Missense_Mutation_p.R533H|BOC_uc003dzz.3_Missense_Mutation_p.R534H|BOC_uc003eab.3_Missense_Mutation_p.R234H|BOC_uc003eac.3_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	533	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AACCAGCACCGCCTGACCCTC	0.567													A	112997000	G	A	112997000	3	1	270	1	0	0	0	0	1	0	0	0	1481	1087	38	1	1628	1	BOC	3	112997000	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	93022234	112997000	85025430	9	18896											
KDR	3791	broad.mit.edu	37	4	55956221	55956221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:55956221G>A	uc003has.3	-	22	3396	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	KDR_uc003hat.1_Nonsense_Mutation_p.R1032*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1032	Protein kinase.				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.R1032Q(2)|p.R1032*(2)		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)	AGGATATTTCGTGCCGCCAGG	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55956221	G	A	55956221	4	1	270	1	0	0	0	0	0	1	0	0	8139	1153	40	1	1008	1	KDR	4	55956221	Nonsense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		55956221	135198055	10	18897											
PROL1	58503	broad.mit.edu	37	4	71275177	71275177	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:71275177G>T	uc003hfi.3	+	2	306	c.132G>T	c.(130-132)tgG>tgT	p.W44C		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	44	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GGCCAAGATGGGTTCCACCAA	0.502													T	71275177	G	T	71275177	3	4	270	1	0	0	0	0	1	0	0	0	12554	1241	43	5	138	5	PROL1	4	71275177	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	15318956	71275177	119879099	11	18898											
HSD17B13	345275	broad.mit.edu	37	4	88239495	88239495	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:88239495G>A	uc003hqo.2	-	1	367	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	HSD17B13_uc010ikk.2_Intron	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	102						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTAGAGAGCGATAGATCTCT	0.468													A	88239495	G	A	88239495	3	1	270	1	0	0	0	0	1	0	0	0	7382	1058	37	2	622	2	HSD17B13	4	88239495	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	16964318	88239495	102914781	12	18899											
NAIP	4671	broad.mit.edu	37	5	70307168	70307168	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:70307168C>A	uc003kar.1	-	4	1320	c.602G>T	c.(601-603)gGt>gTt	p.G201V	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.G201V|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	201					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TAAACATCCACCACAGGAAAA	0.403													A	70307168	C	A	70307168	3	1	270	1	0	0	0	0	1	0	0	0	10147	507	18	5	3661	5	NAIP	5	70307168	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		70307168	110608092	13	18900											
PTCD2	79810	broad.mit.edu	37	5	71616252	71616252	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:71616252C>G	uc003kcb.3	+	0	53	c.43C>G	c.(43-45)Cga>Gga	p.R15G	MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Missense_Mutation_p.R15G|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	15										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCCCTCGAATCGAGTTCTCCT	0.627													G	71616252	C	G	71616252	3	3	270	1	0	0	0	0	1	0	0	0	12728	876	31	5	45	5	PTCD2	5	71616252	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	1309084	71616252	109299008	14	18901											
DDX41	51428	broad.mit.edu	37	5	176942773	176942773	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:176942773G>A	uc003mho.3	-	5	505	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	DDX41_uc003mhn.3_Missense_Mutation_p.R31C|DDX41_uc003mhp.3_Missense_Mutation_p.R31C|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	162					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					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)			ttccgcacgcgctcatgtcgc	0.552													A	176942773	G	A	176942773	3	1	270	1	0	0	0	0	1	0	0	0	4361	1087	38	1	1432	1	DDX41	5	176942773	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	105326521	176942773	3972487	15	18902											
MYLIP	29116	broad.mit.edu	37	6	16130808	16130808	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:16130808C>G	uc003nbq.3	+	1	345	c.108C>G	c.(106-108)atC>atG	p.I36M	MYLIP_uc003nbr.3_Intron	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	36	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GACTGGGAATCATAGAAGTTG	0.468													G	16130808	C	G	16130808	3	3	270	1	0	0	0	0	1	0	0	0	10055	816	29	5	114	5	MYLIP	6	16130808	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		16130808	154984259	16	18903											
MYLIP	29116	broad.mit.edu	37	6	16130886	16130886	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:16130886C>T	uc003nbq.3	+	1	423	c.186C>T	c.(184-186)atC>atT	p.I62I	MYLIP_uc003nbr.3_Intron	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	62	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAAACCGGATCTCCCAGCAGA	0.473													T	16130886	C	T	16130886	2	4	270	1	0	0	0	0	0	0	0	1	10055	903	32	3		3	MYLIP	6	16130886	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	78	16130886	154984181	17	18904											
TNXB	7148	broad.mit.edu	37	6	32012858	32012858	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:32012858T>C	uc003nzl.2	-	31	11048	c.10846A>G	c.(10846-10848)Acc>Gcc	p.T3616A	TNXB_uc003nzg.1_Missense_Mutation_p.T47A|TNXB_uc003nzh.1_Missense_Mutation_p.T85A	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3663	Fibronectin type-III 28.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTAGGGGGTGCTGGGCTCC	0.642													C	32012858	T	C	32012858	3	2	270	1	0	0	0	0	1	0	0	0	16343	1696	59	4	3919	4	TNXB	6	32012858	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	15881972	32012858	139102209	18	18905											
MLN	4295	broad.mit.edu	37	6	33768891	33768891	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:33768891G>A	uc003off.1	-	1	121	c.50C>T	c.(49-51)gCc>gTc	p.A17V	MLN_uc003ofg.1_Missense_Mutation_p.A17V|MLN_uc011drn.1_Missense_Mutation_p.A17V	NM_002418	NP_002409	P12872	MOTI_HUMAN	Homo sapiens motilin (MLN), transcript variant 1, mRNA.	17					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	p.A16T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						GGCCAGCATGGCAGCTACATG	0.567													A	33768891	G	A	33768891	3	1	270	1	0	0	0	0	1	0	0	0	9631	1203	42	3	313	3	MLN	6	33768891	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	1756033	33768891	137346176	19	18906											
SRPK1	6732	broad.mit.edu	37	6	35838178	35838178	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:35838178C>G	uc003olj.3	-	9	995	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	SRPK1_uc003olh.3_Missense_Mutation_p.E184Q|SRPK1_uc003oli.3_Missense_Mutation_p.E184Q|SRPK1_uc011dtg.2_Missense_Mutation_p.E275Q	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	291	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCTCCATTTCCTCAATTTCC	0.438													G	35838178	C	G	35838178	3	3	270	1	0	0	0	0	1	0	0	0	15158	864	30	5	1124	5	SRPK1	6	35838178	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	2069287	35838178	135276889	20	18907											
VPS41	27072	broad.mit.edu	37	7	38798055	38798055	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:38798055C>A	uc003tgy.3	-	17	1475	c.1449G>T	c.(1447-1449)tgG>tgT	p.W483C	VPS41_uc003tgz.3_Missense_Mutation_p.W458C|VPS41_uc010kxn.3_Missense_Mutation_p.W394C	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	483					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GATCTCCAGGCCATTCTCGGA	0.353													A	38798055	C	A	38798055	3	1	270	1	0	0	0	0	1	0	0	0	17207	740	26	5	1163	5	VPS41	7	38798055	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		38798055	120340608	21	18908											
EGFR	1956	broad.mit.edu	37	7	55231506	55231506	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:55231506G>C	uc003tqk.3	+	13	1958	c.1712G>C	c.(1711-1713)tGc>tCc	p.C571S	EGFR_uc003tqi.3_Missense_Mutation_p.C571S|EGFR_uc003tqj.3_Missense_Mutation_p.C571S|EGFR_uc022adm.1_Missense_Mutation_p.C571S|EGFR_uc010kzg.2_Missense_Mutation_p.C526S|EGFR_uc022adn.1_Missense_Mutation_p.C526S|EGFR_uc011kco.2_Missense_Mutation_p.C518S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron|EGFR_uc003tqn.3_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	571					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACATCACCTGCACAGGACGG	0.557		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55231506	G	C	55231506	3	2	270	1	0	0	0	0	1	0	0	0	4967	1319	46	5	1777	5	EGFR	7	55231506	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	16433451	55231506	103907157	22	18909											
ASNS	440	broad.mit.edu	37	7	97483890	97483890	+	Splice_Site	SNP	A	A	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:97483890A>G	uc003uot.4	-	10	1744	c.1238_splice	c.e10+1	p.G413_splice	ASNS_uc011kin.2_Splice_Site_p.G330_splice|ASNS_uc011kio.2_Splice_Site_p.G392_splice|ASNS_uc003uou.4_Splice_Site_p.G413_splice|ASNS_uc003uov.4_Splice_Site_p.G413_splice|ASNS_uc003uox.4_Splice_Site_p.G330_splice	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	413	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TAAAAATATTACCCATGGGCA	0.383													G	97483890	A	G	97483890	5	3	270	1	0	0	0	0	0	0	1	0	1048	405	14	4	461	4	ASNS	7	97483890	Splice_Site	SNP	A	TCGA-76-6282-01A-11D-1696-08	42252384	97483890	61654773	23	18910											
OR2A25	392138	broad.mit.edu	37	7	143771890	143771890	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:143771890T>C	uc011ktx.2	+	0	578	c.578T>C	c.(577-579)aTt>aCt	p.I193T		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GATACCCACATTAATGAGGTA	0.433													C	143771890	T	C	143771890	3	2	270	1	0	0	0	0	1	0	0	0	10978	1493	52	4	580	4	OR2A25	7	143771890	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	46288000	143771890	15366773	24	18911											
IKBKB	3551	broad.mit.edu	37	8	42163910	42163910	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:42163910G>A	uc003xow.2	+	6	713	c.527G>A	c.(526-528)gGc>gAc	p.G176D	IKBKB_uc003xov.3_Missense_Mutation_p.G176D|IKBKB_uc010lxh.2_Missense_Mutation_p.G71D|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_5'UTR|IKBKB_uc010lxj.2_Intron|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.G174D|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.G117D	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	176	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTGGATCAGGGCAGTCTTTGC	0.478													A	42163910	G	A	42163910	3	1	270	1	0	0	0	0	1	0	0	0	7611	1203	42	3	549	3	IKBKB	8	42163910	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		42163910	104200112	25	18912											
DCAF4L2	138009	broad.mit.edu	37	8	88886131	88886131	+	Silent	SNP	G	G	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:88886131G>C	uc003ydz.3	-	0	166	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	23										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGGTGCATTGAGTCCCACTC	0.532													C	88886131	G	C	88886131	2	2	270	1	0	0	0	0	0	0	0	1	4272	1277	45	5		5	DCAF4L2	8	88886131	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08	46722221	88886131	57477891	26	18913											
RIMS2	9699	broad.mit.edu	37	8	105001597	105001597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:105001597C>T	uc003yls.3	+	14	2567	c.2326C>T	c.(2326-2328)Cga>Tga	p.R776*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R837*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1060					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R776*(1)|p.R776Q(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)			TACAATTAGCCGAATGGACAG	0.368										HNSCC(12;0.0054)			T	105001597	C	T	105001597	4	4	270	1	0	0	0	0	0	1	0	0	13368	644	23	2	3184	2	RIMS2	8	105001597	Nonsense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	16115466	105001597	41362425	27	18914											
COLEC10	10584	broad.mit.edu	37	8	120101985	120101985	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:120101985C>T	uc003yoo.3	+	1	312	c.215C>T	c.(214-216)cCg>cTg	p.P72L		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	72	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CGCATGGGGCCGAAAGGTAAC	0.413													T	120101985	C	T	120101985	3	4	270	1	0	0	0	0	1	0	0	0	3710	652	23	2	221	2	COLEC10	8	120101985	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	15100388	120101985	26262037	28	18915											
FAM75A3	727830	broad.mit.edu	37	9	40702866	40702866	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr9:40702866A>T	uc010mmj.3	+	3	552	c.523A>T	c.(523-525)Acc>Tcc	p.T175S		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	175	Pro-rich.					integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGGCCCAATGACCACCTCAGT	0.592													T	40702866	A	T	40702866	3	4	270	1	0	0	0	0	1	0	0	0	5621	275	10	5	537	5	FAM75A3	9	40702866	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08		40702866	100510565	29	18916											
OR52B4	143496	broad.mit.edu	37	11	4389252	4389252	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:4389252C>T	uc010qye.2	-	0	365	c.274G>A	c.(274-276)Ggg>Agg	p.G92R		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGATGTCCCCAGCACGGAAC	0.527													T	4389252	C	T	4389252	3	4	270	1	0	0	0	0	1	0	0	0	11112	594	21	3	674	3	OR52B4	11	4389252	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		4389252	130617264	30	18917											
ANO5	203859	broad.mit.edu	37	11	22296134	22296134	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:22296134C>T	uc001mqi.2	+	19	2572	c.2255C>T	c.(2254-2256)aCg>aTg	p.T752M	ANO5_uc001mqj.2_Missense_Mutation_p.T751M	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	752						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGCATTTACGTCAGACATC	0.363													T	22296134	C	T	22296134	3	4	270	1	0	0	0	0	1	0	0	0	700	536	19	1	2333	1	ANO5	11	22296134	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	17906882	22296134	112710382	31	18918											
OR8K3	219473	broad.mit.edu	37	11	56085826	56085826	+	Missense_Mutation	SNP	C	C	T	rs149952066		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:56085826C>T	uc010rjf.2	+	0	44	c.44C>T	c.(43-45)aCg>aTg	p.T15M		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCATTCTTACGGGAATCACA	0.423													T	56085826	C	T	56085826	3	4	270	1	0	0	0	0	1	0	0	0	11244	536	19	1	46	1	OR8K3	11	56085826	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	33789692	56085826	78920690	32	18919											
MS4A12	54860	broad.mit.edu	37	11	60264794	60264794	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:60264794G>C	uc001npr.3	+	1	60	c.3G>C	c.(1-3)atG>atC	p.M1I	MS4A12_uc009ynb.3_Missense_Mutation_p.M1I|MS4A12_uc021qkb.1_Missense_Mutation_p.M1I	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	1						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						AGGACATAATGATGTCATCCA	0.383													C	60264794	G	C	60264794	3	2	270	1	0	0	0	0	1	0	0	0	9856	1290	45	5	5	5	MS4A12	11	60264794	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	4178968	60264794	74741722	33	18920											
PANX1	24145	broad.mit.edu	37	11	93911644	93911644	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:93911644A>T	uc001per.3	+	2	816	c.431A>T	c.(430-432)gAa>gTa	p.E144V	PANX1_uc001peq.3_Missense_Mutation_p.E144V	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	144					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTATCATGGAAGAACTTGAC	0.502													T	93911644	A	T	93911644	3	4	270	1	0	0	0	0	1	0	0	0	11420	246	9	5	441	5	PANX1	11	93911644	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08	33646850	93911644	41094872	34	18921											
UBE4A	9354	broad.mit.edu	37	11	118255613	118255613	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:118255613A>T	uc001psw.3	+	14	2500	c.2365A>T	c.(2365-2367)Aac>Tac	p.N789Y	UBE4A_uc001psv.3_Missense_Mutation_p.N796Y	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	789					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	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;3.28e-05)		CCGCTTTCTTAACCTGCTAAT	0.373													T	118255613	A	T	118255613	3	4	270	1	0	0	0	0	1	0	0	0	16879	362	13	5	2440	5	UBE4A	11	118255613	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08	24343969	118255613	16750903	35	18922											
ITPR2	3709	broad.mit.edu	37	12	26868282	26868282	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr12:26868282G>A	uc001rhg.3	-	7	1222	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	269	Inositol-1,4,5-triphosphate binding (By similarity).|MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCTGATTGGCGCAAGGTCGTA	0.363													A	26868282	G	A	26868282	3	1	270	1	0	0	0	0	1	0	0	0	7921	1087	38	1	7500	1	ITPR2	12	26868282	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		26868282	106983613	36	18923											
MTUS2	23281	broad.mit.edu	37	13	29600584	29600584	+	Silent	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr13:29600584G>A	uc001usl.4	+	0	1837	c.1779G>A	c.(1777-1779)acG>acA	p.T593T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	583						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.T593T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTGAACACGTCCCCCAAAG	0.552													A	29600584	G	A	29600584	2	1	270	1	0	0	0	0	0	0	0	1	9966	1132	40	1		1	MTUS2	13	29600584	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		29600584	85569294	37	18924											
OTX2	5015	broad.mit.edu	37	14	57269020	57269020	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr14:57269020C>A	uc001xcq.3	-	4	601	c.327G>T	c.(325-327)caG>caT	p.Q109H	OTX2_uc001xcp.3_Missense_Mutation_p.Q101H|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Missense_Mutation_p.Q101H	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	101					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.Q109P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GACCTCCATTCTGCTGTTGTT	0.448													A	57269020	C	A	57269020	3	1	270	1	0	0	0	0	1	0	0	0	11321	912	32	5	570	5	OTX2	14	57269020	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		57269020	50080520	38	18925											
VPS18	57617	broad.mit.edu	37	15	41193044	41193044	+	Silent	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:41193044G>A	uc001zne.3	+	3	2367	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	676					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGGCCGGACTCACTAC	0.647													A	41193044	G	A	41193044	2	1	270	1	0	0	0	0	0	0	0	1	17191	1103	39	2		2	VPS18	15	41193044	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		41193044	61338348	39	18926											
SLC27A2	11001	broad.mit.edu	37	15	50475097	50475097	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:50475097C>T	uc001zxw.3	+	0	705	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SLC27A2_uc010bes.3_Missense_Mutation_p.S158L	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	158					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTGCTGGTGTCGCCAGGTGAG	0.652													T	50475097	C	T	50475097	3	4	270	1	0	0	0	0	1	0	0	0	14526	893	31	2	475	2	SLC27A2	15	50475097	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	9282053	50475097	52056295	40	18927											
ITGA11	22801	broad.mit.edu	37	15	68641185	68641185	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:68641185delA	uc010bib.3	-	9	1201	c.1114delT	c.(1114-1116)tccfs	p.S372fs	ITGA11_uc002ari.3_Frame_Shift_Del_p.S372fs	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	372					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACGTGCGAGGAAAAGCCCGTC	0.562													-	68641185	A	-	68641185	7	5	270	1	0	1	0	1	0	0	0	0	7874	246	9	0	2536	0	ITGA11	15	68641185	Frame_Shift_Del	DEL	A	TCGA-76-6282-01A-11D-1696-08	18166088	68641185	33890207	41	18928											
TARSL2	123283	broad.mit.edu	37	15	102242566	102242566	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:102242566C>T	uc002bxm.3	-	8	1152	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	366					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGATTGCCCTCCCAATA	0.353													T	102242566	C	T	102242566	3	4	270	1	0	0	0	0	1	0	0	0	15558	739	26	3	1355	3	TARSL2	15	102242566	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	33601381	102242566	288826	42	18929											
MSLNL	401827	broad.mit.edu	37	16	830269	830269	+	Silent	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:830269G>A	uc002cjz.1	-	2	732	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGAGGCCAGAGGACATGGAGG	0.677													A	830269	G	A	830269	2	1	270	1	0	0	0	0	0	0	0	1	9882	987	35	3		3	MSLNL	16	830269	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		830269	89524484	43	18930											
SRRM2	23524	broad.mit.edu	37	16	2812977	2812977	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:2812977C>T	uc002crk.3	+	10	2997	c.2448C>T	c.(2446-2448)cgC>cgT	p.R816R	SRRM2_uc002crj.1_Silent_p.R720R|SRRM2_uc002crl.1_Silent_p.R816R|SRRM2_uc010bsu.1_Silent_p.R720R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	816	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R816H(1)|p.S815I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GACGCAGTCGCTCCAGTTCTT	0.498													T	2812977	C	T	2812977	2	4	270	1	0	0	0	0	0	0	0	1	15168	784	28	3		3	SRRM2	16	2812977	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	1982708	2812977	87541776	44	18931											
SRRM2	23524	broad.mit.edu	37	16	2813966	2813966	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:2813966C>G	uc002crk.3	+	10	3986	c.3437C>G	c.(3436-3438)cCt>cGt	p.P1146R	SRRM2_uc002crj.1_Missense_Mutation_p.P1050R|SRRM2_uc002crl.1_Missense_Mutation_p.P1146R|SRRM2_uc010bsu.1_Missense_Mutation_p.P1050R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1146	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTTCATATCCTACAGTGGAC	0.468													G	2813966	C	G	2813966	3	3	270	1	0	0	0	0	1	0	0	0	15168	681	24	5	3475	5	SRRM2	16	2813966	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	989	2813966	87540787	45	18932											
GRIN2A	2903	broad.mit.edu	37	16	9857538	9857538	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:9857538C>T	uc010uym.2	-	13	4173	c.3863G>A	c.(3862-3864)cGt>cAt	p.R1288H	GRIN2A_uc002czo.4_Missense_Mutation_p.R1288H|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1288					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGAATGCTGACGGCTAATCCT	0.537													T	9857538	C	T	9857538	3	4	270	1	0	0	0	0	1	0	0	0	6779	536	19	1	535	1	GRIN2A	16	9857538	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	7043572	9857538	80497215	46	18933											
MYH13	8735	broad.mit.edu	37	17	10233822	10233822	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:10233822G>T	uc002gmk.1	-	20	2407	c.2317C>A	c.(2317-2319)Ctc>Atc	p.L773I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	773	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGTCCCAGGAGCCCAGCTTTG	0.557													T	10233822	G	T	10233822	3	4	270	1	0	0	0	0	1	0	0	0	10032	971	34	5	3583	5	MYH13	17	10233822	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		10233822	70961388	47	18934											
KRT33A	3883	broad.mit.edu	37	17	39506758	39506758	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:39506758T>G	uc002hwk.1	-	0	299	c.262A>C	c.(262-264)Atc>Ctc	p.I88L		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	88	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CGCTCCCGGATGAGGTTCTCC	0.612													G	39506758	T	G	39506758	3	3	270	1	0	0	0	0	1	0	0	0	8469	1464	51	5	980	5	KRT33A	17	39506758	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	29272936	39506758	41688452	48	18935											
OTOP2	92736	broad.mit.edu	37	17	72923832	72923832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:72923832delC	uc010wrp.2	+	4	674	c.582delC	c.(580-582)cacfs	p.H194fs	OTOP2_uc002jmf.1_3'UTR	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	194						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AATCTGTGCACCAATCCCACT	0.582													-	72923832	C	-	72923832	7	5	270	1	0	1	0	1	0	0	0	0	11306	506	18	0	596	0	OTOP2	17	72923832	Frame_Shift_Del	DEL	C	TCGA-76-6282-01A-11D-1696-08	33417074	72923832	8271378	49	18936											
DSC1	1823	broad.mit.edu	37	18	28723628	28723628	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr18:28723628C>T	uc002kwn.3	-	7	1328	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	DSC1_uc002kwm.3_Missense_Mutation_p.E356K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	356	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACAGAAGTTTCTGTGAAAGAT	0.358													T	28723628	C	T	28723628	3	4	270	1	0	0	0	0	1	0	0	0	4765	922	32	3	1694	3	DSC1	18	28723628	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		28723628	49353620	50	18937											
TNFSF9	8744	broad.mit.edu	37	19	6535006	6535006	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:6535006G>A	uc002mfh.2	+	2	732	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	232					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.G231G(2)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TACCCAGGGCGCCACAGTCTT	0.662													A	6535006	G	A	6535006	3	1	270	1	0	0	0	0	1	0	0	0	16309	1087	38	1	704	1	TNFSF9	19	6535006	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		6535006	52593977	51	18938											
MUC16	94025	broad.mit.edu	37	19	9049297	9049297	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:9049297C>T	uc002mkp.3	-	4	32538	c.32334G>A	c.(32332-32334)tcG>tcA	p.S10778S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10780	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						TTGGAATGGCCGAACTTGTCT	0.468													T	9049297	C	T	9049297	2	4	270	1	0	0	0	0	0	0	0	1	9973	639	23	2		2	MUC16	19	9049297	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	2514291	9049297	50079686	52	18939											
ZNF536	9745	broad.mit.edu	37	19	31039659	31039659	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:31039659G>T	uc002nsu.1	+	3	3271	c.3133G>T	c.(3133-3135)Gcc>Tcc	p.A1045S	ZNF536_uc010edd.1_Missense_Mutation_p.A1045S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1045					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1044*(1)|p.A1045A(1)|p.A1045V(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)					CAAAGACCAAGCCCGGGAGGC	0.537													T	31039659	G	T	31039659	3	4	270	1	0	0	0	0	1	0	0	0	17971	971	34	5	3143	5	ZNF536	19	31039659	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	21990362	31039659	28089324	53	18940											
CD22	933	broad.mit.edu	37	19	35828889	35828889	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:35828889C>T	uc010edt.3	+	4	1034	c.950C>T	c.(949-951)cCg>cTg	p.P317L	CD22_uc010edu.3_Missense_Mutation_p.P317L|CD22_uc010edv.3_Missense_Mutation_p.P317L|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Missense_Mutation_p.P145L|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	317	Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GACGTGGGCCCGGGAAGGTCG	0.602													T	35828889	C	T	35828889	3	4	270	1	0	0	0	0	1	0	0	0	2985	652	23	2	964	2	CD22	19	35828889	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	4789230	35828889	23300094	54	18941											
SHKBP1	92799	broad.mit.edu	37	19	41096902	41096902	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:41096902A>G	uc002oob.3	+	17	1962	c.1913A>G	c.(1912-1914)aAc>aGc	p.N638S	SHKBP1_uc002ooc.3_Missense_Mutation_p.N613S|SHKBP1_uc002ooe.3_Missense_Mutation_p.N475S|SHKBP1_uc010xvm.2_Missense_Mutation_p.N418S|SHKBP1_uc010xvn.2_Missense_Mutation_p.N516S|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	638						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCAGCAACACCTCCTTG	0.662													G	41096902	A	G	41096902	3	3	270	1	0	0	0	0	1	0	0	0	14284	43	2	4	1983	4	SHKBP1	19	41096902	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08	5268013	41096902	18032081	55	18942											
PLCG1	5335	broad.mit.edu	37	20	39794468	39794468	+	Splice_Site	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr20:39794468T>C	uc002xjp.1	+	16	1920	c.1799_splice	c.e16+2	p.W600_splice	PLCG1_uc002xjo.1_Splice_Site_p.W600_splice|PLCG1_uc010zwe.1_Splice_Site_p.W226_splice|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	600	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTCTTTCTGGTAACACTTCCC	0.522													C	39794468	T	C	39794468	5	2	270	1	0	0	0	0	0	0	1	0	12035	1652	57	4	1863	4	PLCG1	20	39794468	Splice_Site	SNP	T	TCGA-76-6282-01A-11D-1696-08		39794468	23231052	56	18943											
TPTE	7179	broad.mit.edu	37	21	10933879	10933879	+	Missense_Mutation	SNP	C	C	T	rs149228869		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr21:10933879C>T	uc002yip.1	-	16	1368	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.V316I|TPTE_uc002yir.1_Missense_Mutation_p.V296I|TPTE_uc010gkv.1_Missense_Mutation_p.V196I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	334	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		TGAATCGCTACGATGTTTTCA	0.313													T	10933879	C	T	10933879	3	4	270	1	0	0	0	0	1	0	0	0	16427	536	19	1	687	1	TPTE	21	10933879	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		10933879	37196016	57	18944											
RRP1B	23076	broad.mit.edu	37	21	45107849	45107849	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr21:45107849G>A	uc002zdk.3	+	12	1708	c.1594G>A	c.(1594-1596)Gtc>Atc	p.V532I	RRP1B_uc002zdl.3_Missense_Mutation_p.V65I	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	532					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AGTTGTGCCCGTCAATGGCAG	0.647													A	45107849	G	A	45107849	3	1	270	1	0	0	0	0	1	0	0	0	13688	1145	40	1	1644	1	RRP1B	21	45107849	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	34173970	45107849	3022046	58	18945											
RGL4	266747	broad.mit.edu	37	22	24034585	24034585	+	Silent	SNP	G	G	A	rs141395325	byFrequency	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr22:24034585G>A	uc002zxo.3	+	1	1500	c.243G>A	c.(241-243)ccG>ccA	p.P81P	GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.P81P|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	81					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	p.P81Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ATCAGCCCCCGCAACGGTCAT	0.552													A	24034585	G	A	24034585	2	1	270	1	0	0	0	0	0	0	0	1	13279	1074	38	1		1	RGL4	22	24034585	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		24034585	27269981	59	18946											
MYO18B	84700	broad.mit.edu	37	22	26423542	26423542	+	Silent	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr22:26423542G>A	uc003abz.1	+	42	7852	c.7602G>A	c.(7600-7602)gcG>gcA	p.A2534A	MYO18B_uc003aca.1_Silent_p.A2415A|MYO18B_uc010guy.1_Silent_p.A2416A|MYO18B_uc010guz.1_Silent_p.A2414A|MYO18B_uc011aka.1_Silent_p.A1688A|MYO18B_uc011akb.1_Silent_p.A2047A|MYO18B_uc010gva.1_Silent_p.A517A|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2534						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACGACTTGCGGGTGACGGTG	0.572													A	26423542	G	A	26423542	2	1	270	1	0	0	0	0	0	0	0	1	10066	1103	39	2		2	MYO18B	22	26423542	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08	2388957	26423542	24881024	60	18947											
VPS13D	55187	broad.mit.edu	37	1	12414081	12414081	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:12414081A>G	uc001atv.3	+	46	9623	c.9482A>G	c.(9481-9483)aAc>aGc	p.N3161S	VPS13D_uc001atw.3_Missense_Mutation_p.N3136S|VPS13D_uc001atx.3_Missense_Mutation_p.N2348S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3160					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCCCTCAAACATATTTTCT	0.363													G	12414081	A	G	12414081	3	3	271	1	0	0	0	0	1	0	0	0	17189	43	2	4	9664	4	VPS13D	1	12414081	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08		12414081	236836540	1	18948											
HSPB7	27129	broad.mit.edu	37	1	16342135	16342135	+	Silent	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:16342135T>C	uc001axr.2	-	2	1295	c.732A>G	c.(730-732)gcA>gcG	p.A244A	HSPB7_uc001axo.2_Silent_p.A151A|HSPB7_uc001axp.2_Silent_p.A234A|HSPB7_uc001axq.2_Silent_p.A243A|HSPB7_uc001axs.2_Silent_p.A226A	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	151					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGACGCCGTGCCCGGATAG	0.642													C	16342135	T	C	16342135	2	2	271	1	0	0	0	0	0	0	0	1	7422	1683	59	4		4	HSPB7	1	16342135	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08	3928054	16342135	232908486	2	18949											
EPHA8	2046	broad.mit.edu	37	1	22927421	22927421	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:22927421C>T	uc001bfx.1	+	14	2694	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	857	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGTACCGCCTGCCCGCACC	0.697													T	22927421	C	T	22927421	2	4	271	1	0	0	0	0	0	0	0	1	5173	680	24	3		3	EPHA8	1	22927421	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	6585286	22927421	226323200	3	18950											
PHACTR4	65979	broad.mit.edu	37	1	28818258	28818258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:28818258C>T	uc001bpy.3	+	10	2240	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Nonsense_Mutation_p.R659*|PHACTR4_uc001bpx.3_Nonsense_Mutation_p.R643*	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	659							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGACCGGCGAGCCGACAA	0.453													T	28818258	C	T	28818258	4	4	271	1	0	0	0	0	0	1	0	0	11812	760	27	1	2067	1	PHACTR4	1	28818258	Nonsense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	5890837	28818258	220432363	4	18951											
IPP	3652	broad.mit.edu	37	1	46165793	46165793	+	Missense_Mutation	SNP	G	G	C	rs147854966		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:46165793G>C	uc001cou.3	-	8	1867	c.1600C>G	c.(1600-1602)Ctt>Gtt	p.L534V	IPP_uc001cos.4_Missense_Mutation_p.L534V	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	534						actin cytoskeleton|cytoplasm	actin binding	p.G533C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ACATACAGAAGACCATTGACT	0.423													C	46165793	G	C	46165793	3	2	271	1	0	0	0	0	1	0	0	0	7800	942	33	5	260	5	IPP	1	46165793	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	17347535	46165793	203084828	5	18952											
GADD45A	1647	broad.mit.edu	37	1	68152267	68152267	+	Silent	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:68152267G>T	uc001ddz.2	+	2	699	c.381G>T	c.(379-381)gtG>gtT	p.V127V	GADD45A_uc009wbb.2_Silent_p.V93V|GADD45A_uc009wbc.2_Intron|GADD45A_uc009wbd.2_Intron	NM_001924	NP_001915	P24522	GA45A_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, alpha (GADD45A), transcript variant 1, mRNA.	127					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			lung(2)|ovary(2)	4						GCGTGCTGGTGACGGTAAGGG	0.706													T	68152267	G	T	68152267	2	4	271	1	0	0	0	0	0	0	0	1	6181	1277	45	5		5	GADD45A	1	68152267	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	21986474	68152267	181098354	6	18953											
ABCA4	24	broad.mit.edu	37	1	94522271	94522271	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:94522271G>A	uc001dqh.3	-	14	2372	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	ABCA4_uc010otn.1_Intron	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	756					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GACTGGCCTTGGAGAAGAAGG	0.542													A	94522271	G	A	94522271	2	1	271	1	0	0	0	0	0	0	0	1	34	1335	47	3		3	ABCA4	1	94522271	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	26370004	94522271	154728350	7	18954											
CGN	57530	broad.mit.edu	37	1	151491406	151491406	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:151491406C>T	uc009wmw.3	+	1	555	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	131	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCCCACTCCCAGGCCTCAC	0.592													T	151491406	C	T	151491406	2	4	271	1	0	0	0	0	0	0	0	1	3303	610	22	3		3	CGN	1	151491406	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	56969135	151491406	97759215	8	18955											
S100A14	57402	broad.mit.edu	37	1	153587428	153587428	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:153587428C>G	uc001fce.3	-	3	364	c.248G>C	c.(247-249)aGt>aCt	p.S83T	S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	Homo sapiens S100 calcium binding protein A14 (S100A14), mRNA.	83					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCCAGAAACTCCTGAACTC	0.557													G	153587428	C	G	153587428	3	3	271	1	0	0	0	0	1	0	0	0	13776	565	20	5	70	5	S100A14	1	153587428	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	2096022	153587428	95663193	9	18956											
NUP210L	91181	broad.mit.edu	37	1	153973356	153973356	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:153973356C>A	uc001fdw.3	-	36	5434	c.5362G>T	c.(5362-5364)Gct>Tct	p.A1788S	NUP210L_uc009woq.3_Missense_Mutation_p.A697S|NUP210L_uc010peh.2_Intron	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1788						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCTTTCATAGCCCTCACTACC	0.408													A	153973356	C	A	153973356	3	1	271	1	0	0	0	0	1	0	0	0	10761	739	26	5	320	5	NUP210L	1	153973356	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	385928	153973356	95277265	10	18957											
PYHIN1	149628	broad.mit.edu	37	1	158914677	158914677	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:158914677A>G	uc001ftb.3	+	6	1454	c.1204A>G	c.(1204-1206)Aca>Gca	p.T402A	PYHIN1_uc001ftc.3_Missense_Mutation_p.T393A|PYHIN1_uc001ftd.3_Missense_Mutation_p.T402A|PYHIN1_uc001fte.3_Missense_Mutation_p.T393A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	402					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACAGAAAAATACAAACCAGAG	0.373													G	158914677	A	G	158914677	3	3	271	1	0	0	0	0	1	0	0	0	12865	391	14	4	1226	4	PYHIN1	1	158914677	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	4941321	158914677	90335944	11	18958											
HMCN1	83872	broad.mit.edu	37	1	186134268	186134268	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:186134268C>T	uc001grq.1	+	97	15511	c.15282C>T	c.(15280-15282)tcC>tcT	p.S5094S	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.S663S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5094					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						AGTGCCCCTCCGGGTTTACCT	0.408													T	186134268	C	T	186134268	2	4	271	1	0	0	0	0	0	0	0	1	7220	639	23	2		2	HMCN1	1	186134268	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	27219591	186134268	63116353	12	18959											
FCAMR	83953	broad.mit.edu	37	1	207140441	207140441	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:207140441G>A	uc001hfa.4	-	2	625	c.125C>T	c.(124-126)gCg>gTg	p.A42V	FCAMR_uc001hfb.3_Missense_Mutation_p.A42V|FCAMR_uc009xca.2_Missense_Mutation_p.A42V|FCAMR_uc021pig.1_5'Flank	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	341						integral to membrane|plasma membrane	receptor activity	p.A42A(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TTTCCATCCCGCCCTCCTGCT	0.527													A	207140441	G	A	207140441	3	1	271	1	0	0	0	0	1	0	0	0	5772	1087	38	1	1632	1	FCAMR	1	207140441	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	21006173	207140441	42110180	13	18960											
USH2A	7399	broad.mit.edu	37	1	215848243	215848243	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:215848243G>A	uc001hku.1	-	62	13397	c.13010C>T	c.(13009-13011)aCg>aTg	p.T4337M		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4337	Fibronectin type-III 28.		T -> M (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		TCCTCCACTCGTGCAGGCTTG	0.498										HNSCC(13;0.011)			A	215848243	G	A	215848243	3	1	271	1	0	0	0	0	1	0	0	0	17033	1145	40	1	2638	1	USH2A	1	215848243	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	8707802	215848243	33402378	14	18961											
USH2A	7399	broad.mit.edu	37	1	216538373	216538373	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:216538373G>A	uc001hku.1	-	3	1093	c.706C>T	c.(706-708)Cct>Tct	p.P236S	USH2A_uc001hkv.3_Missense_Mutation_p.P236S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	236					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GCATTGAAAGGTGTATGATCC	0.353										HNSCC(13;0.011)			A	216538373	G	A	216538373	3	1	271	1	0	0	0	0	1	0	0	0	17033	1261	44	3	15192	3	USH2A	1	216538373	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	690130	216538373	32712248	15	18962											
OR2T33	391195	broad.mit.edu	37	1	248436840	248436840	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:248436840C>T	uc010pzi.2	-	0	277	c.277G>A	c.(277-279)Gct>Act	p.A93T		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R92S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CCACAGCCAGCGCGGGAGATG	0.577													T	248436840	C	T	248436840	3	4	271	1	0	0	0	0	1	0	0	0	11024	768	27	1	688	1	OR2T33	1	248436840	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	31898467	248436840	813781	16	18963											
IAH1	285148	broad.mit.edu	37	2	9628296	9628296	+	Silent	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:9628296A>G	uc002qzr.3	+	5	611	c.585A>G	c.(583-585)tcA>tcG	p.S195S	IAH1_uc002qzs.3_Silent_p.S82S|IAH1_uc002qzt.3_Silent_p.S82S|IAH1_uc010yiz.2_Non-coding_Transcript	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	Homo sapiens isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) (IAH1), mRNA.	195					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTATTTATCAGATGGACTAC	0.448													G	9628296	A	G	9628296	2	3	271	1	0	0	0	0	0	0	0	1	7471	175	7	4		4	IAH1	2	9628296	Silent	SNP	A	TCGA-76-6283-01A-11D-1845-08		9628296	233571077	17	18964											
TTN	7273	broad.mit.edu	37	2	179542390	179542392	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:179542390_179542392delCTT	uc021vsy.1	-	142	30740_30742	c.30515_30517delAAG	c.(30514-30519)gaagtc>gtc	p.E10172del	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_In_Frame_Del_p.E6833del|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11099	Glu-rich.						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)			TCTGGAAGGACTTCTTCTTCAGG	0.443													-	179542392	CTT	-	179542390	7	5	271	1	0	1	0	1	0	0	0	0	16732	565	20	0	70148	0	TTN	2	179542390	In_Frame_Del	DEL	CTT	TCGA-76-6283-01A-11D-1845-08	169914094	179542390	63656983	18	18965											
COL3A1	1281	broad.mit.edu	37	2	189859008	189859008	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:189859008C>T	uc002uqj.1	+	17	1360	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	415	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			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)	AGCCCGGGGTCCTCCAGGACC	0.498													T	189859008	C	T	189859008	3	4	271	1	0	0	0	0	1	0	0	0	3688	855	30	3	1313	3	COL3A1	2	189859008	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	10316618	189859008	53340365	19	18966											
NUP210	23225	broad.mit.edu	37	3	13427820	13427820	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:13427820A>G	uc003bxv.1	-	5	855	c.772T>C	c.(772-774)Tcc>Ccc	p.S258P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	258					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TAGTGAATGGAGGTTCCCACC	0.468													G	13427820	A	G	13427820	3	3	271	1	0	0	0	0	1	0	0	0	10760	304	11	4	5031	4	NUP210	3	13427820	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08		13427820	184594610	20	18967											
NKTR	4820	broad.mit.edu	37	3	42678511	42678511	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:42678511delA	uc003clo.3	+	12	1462	c.1315delA	c.(1315-1317)aaafs	p.K439fs	NKTR_uc003clm.1_Frame_Shift_Del_p.K186fs|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Frame_Shift_Del_p.K186fs|NKTR_uc003clq.1_Frame_Shift_Del_p.K329fs|NKTR_uc003clr.1_Frame_Shift_Del_p.K186fs|NKTR_uc003cls.3_Frame_Shift_Del_p.K139fs	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	439	Arg/Lys-rich (basic).				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGTTAAGCATAAAAAGAAAGG	0.368													-	42678511	A	-	42678511	7	5	271	1	0	1	0	1	0	0	0	0	10448	363	13	0	1361	0	NKTR	3	42678511	Frame_Shift_Del	DEL	A	TCGA-76-6283-01A-11D-1845-08	29250691	42678511	155343919	21	18968											
ALAS1	211	broad.mit.edu	37	3	52242221	52242221	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:52242221G>A	uc011bec.2	+	8	1659	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	ALAS1_uc003dcy.2_Missense_Mutation_p.D430N|ALAS1_uc003dcz.2_Missense_Mutation_p.D430N	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	430					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGGGATCGGGATGGAGTCAT	0.483													A	52242221	G	A	52242221	3	1	271	1	0	0	0	0	1	0	0	0	484	1174	41	3	1314	3	ALAS1	3	52242221	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	9563710	52242221	145780209	22	18969											
DNAH1	25981	broad.mit.edu	37	3	52422839	52422839	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:52422839G>A	uc011bef.2	+	58	9642	c.9381G>A	c.(9379-9381)tcG>tcA	p.S3127S	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3192					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGGGCTGTCGGATGAGAAGG	0.667													A	52422839	G	A	52422839	2	1	271	1	0	0	0	0	0	0	0	1	4597	1103	39	2		2	DNAH1	3	52422839	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	180618	52422839	145599591	23	18970											
SERPINI1	5274	broad.mit.edu	37	3	167525043	167525043	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:167525043A>C	uc003ffa.4	+	5	1091	c.893A>C	c.(892-894)gAa>gCa	p.E298A	SERPINI1_uc003ffb.4_Missense_Mutation_p.E298A	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	298					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.E298E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCACAGTGGAACAGGAAATT	0.338													C	167525043	A	C	167525043	3	2	271	1	0	0	0	0	1	0	0	0	14118	246	9	5	911	5	SERPINI1	3	167525043	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	115102204	167525043	30497387	24	18971											
ATP8A1	10396	broad.mit.edu	37	4	42581956	42581956	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:42581956G>A	uc003gwr.2	-	10	1106	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP8A1_uc003gws.2_Missense_Mutation_p.R292W|ATP8A1_uc011byz.1_Missense_Mutation_p.R292W	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	292					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.R292W(2)		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)	TTTGTAATCCGTTCCACATTT	0.343													A	42581956	G	A	42581956	3	1	271	1	0	0	0	0	1	0	0	0	1192	1144	40	1	2728	1	ATP8A1	4	42581956	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		42581956	148572320	25	18972											
CENPE	1062	broad.mit.edu	37	4	104065619	104065619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:104065619G>A	uc003hxb.1	-	32	5104	c.5014C>T	c.(5014-5016)Cag>Tag	p.Q1672*	CENPE_uc003hxc.1_Nonsense_Mutation_p.Q1647*	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1672					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTAGTATCTGAGTCAACCTT	0.393													A	104065619	G	A	104065619	4	1	271	1	0	0	0	0	0	1	0	0	3230	1299	45	3	3159	3	CENPE	4	104065619	Nonsense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	61483663	104065619	87088657	26	18973											
KIAA1109	84162	broad.mit.edu	37	4	123184110	123184110	+	Silent	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:123184110T>C	uc003ieh.3	+	40	6999	c.6954T>C	c.(6952-6954)gcT>gcC	p.A2318A	KIAA1109_uc003iel.1_Silent_p.A253A|KIAA1109_uc003iek.2_Silent_p.A937A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2318					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCAGTGCTGCTGTGAAAAGTA	0.463													C	123184110	T	C	123184110	2	2	271	1	0	0	0	0	0	0	0	1	8208	1567	55	4		4	KIAA1109	4	123184110	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08	19118491	123184110	67970166	27	18974											
KIAA1109	84162	broad.mit.edu	37	4	123192519	123192519	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:123192519C>T	uc003ieh.3	+	44	7885	c.7840C>T	c.(7840-7842)Cgg>Tgg	p.R2614W	KIAA1109_uc003iel.1_Missense_Mutation_p.R549W|KIAA1109_uc003iek.2_Missense_Mutation_p.R1233W	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2614					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAGAAAACATCGGGACTTTCG	0.403													T	123192519	C	T	123192519	3	4	271	1	0	0	0	0	1	0	0	0	8208	875	31	2	8018	2	KIAA1109	4	123192519	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	8409	123192519	67961757	28	18975											
SLC10A7	84068	broad.mit.edu	37	4	147227117	147227117	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:147227117C>T	uc010ioz.2	-	6	770	c.516G>A	c.(514-516)caG>caA	p.Q172Q	SLC10A7_uc003ikr.2_Silent_p.Q172Q|SLC10A7_uc010ipa.2_Silent_p.Q159Q|SLC10A7_uc003iks.2_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	172						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TCATAAAAAGCTGAGAAAAAA	0.338													T	147227117	C	T	147227117	2	4	271	1	0	0	0	0	0	0	0	1	14379	796	28	3		3	SLC10A7	4	147227117	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	24034598	147227117	43927159	29	18976											
ZFR	51663	broad.mit.edu	37	5	32388633	32388636	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:32388633_32388636delCAGA	uc003jhr.1	-	12	2367_2370	c.2287_2290delTCTG	c.(2287-2292)tctgaafs	p.S763fs	ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	763					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTCTCATGTTCAGACAAACTGTCT	0.358													-	32388636	CAGA	-	32388633	7	5	271	1	0	1	0	1	0	0	0	0	17656	835	29	0	966	0	ZFR	5	32388633	Frame_Shift_Del	DEL	CAGA	TCGA-76-6283-01A-11D-1845-08		32388633	148526627	30	18977											
ADAMTS12	81792	broad.mit.edu	37	5	33881270	33881270	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:33881270T>C	uc003jia.1	-	1	606	c.443A>G	c.(442-444)cAg>cGg	p.Q148R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q148R|ADAMTS12_uc003jib.1_Missense_Mutation_p.Q148R	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	148					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						TCTGGTGCCCTGCTGTAGAAC	0.577										HNSCC(64;0.19)			C	33881270	T	C	33881270	3	2	271	1	0	0	0	0	1	0	0	0	257	1580	55	4	4433	4	ADAMTS12	5	33881270	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	1492637	33881270	147033990	31	18978											
GPR98	84059	broad.mit.edu	37	5	90046453	90046453	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90046453G>A	uc003kju.3	+	52	11156	c.11060G>A	c.(11059-11061)cGt>cAt	p.R3687H	GPR98_uc003kjt.3_Missense_Mutation_p.R1393H|GPR98_uc003kjv.3_Missense_Mutation_p.R1287H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3687					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATATGGCCGTATAACCATA	0.343													A	90046453	G	A	90046453	3	1	271	1	0	0	0	0	1	0	0	0	6721	1145	40	1	11270	1	GPR98	5	90046453	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	56165183	90046453	90868807	32	18979											
GPR98	84059	broad.mit.edu	37	5	90144497	90144497	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90144497G>A	uc003kju.3	+	78	17159	c.17063G>A	c.(17062-17064)cGa>cAa	p.R5688Q	GPR98_uc003kjt.3_Missense_Mutation_p.R3394Q|GPR98_uc003kjw.3_Missense_Mutation_p.R1349Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5688					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGCCAGCCGAACTCTTTTC	0.323													A	90144497	G	A	90144497	3	1	271	1	0	0	0	0	1	0	0	0	6721	1058	37	2	17377	2	GPR98	5	90144497	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	98044	90144497	90770763	33	18980											
GPR98	84059	broad.mit.edu	37	5	90159635	90159635	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90159635A>T	uc003kju.3	+	82	17913	c.17817A>T	c.(17815-17817)aaA>aaT	p.K5939N	GPR98_uc003kjt.3_Missense_Mutation_p.K3645N|GPR98_uc003kjw.3_Missense_Mutation_p.K1600N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5939					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCAGCTAAACTTCTGACTC	0.423													T	90159635	A	T	90159635	3	4	271	1	0	0	0	0	1	0	0	0	6721	40	2	5	18147	5	GPR98	5	90159635	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	15138	90159635	90755625	34	18981											
EPB41L4A	64097	broad.mit.edu	37	5	111540130	111540130	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:111540130G>A	uc003kpv.1	-	14	1592	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C	EPB41L4A_uc003kpp.1_Missense_Mutation_p.R67C	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	440						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTTCGGCGACGCGTGTAAGGG	0.488													A	111540130	G	A	111540130	3	1	271	1	0	0	0	0	1	0	0	0	5155	1087	38	1	778	1	EPB41L4A	5	111540130	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	21380495	111540130	69375130	35	18982											
ATG12	9140	broad.mit.edu	37	5	115177086	115177087	+	Splice_Site	INS	-	-	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:115177086_115177087insT	uc003krh.3	-	1	462	c.163_splice	c.e1+1	p.I55_splice	AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Splice_Site|ATG12_uc021ycs.1_Splice_Site|ATG12_uc003kri.3_Splice_Site_p.I102_splice	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	55					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AATTCAGTTACTTTTTTTCTTG	0.55													T	115177087	-	T	115177086	8	5	271	1	0	1	1	0	0	0	1	0	1090	579	20	0	274	0	ATG12	5	115177086	Splice_Site	INS	-	TCGA-76-6283-01A-11D-1845-08	3636956	115177086	65738174	36	18983											
PRR16	51334	broad.mit.edu	37	5	120022105	120022105	+	Missense_Mutation	SNP	C	C	T	rs137912065	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:120022105C>T	uc003ksq.3	+	1	779	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	PRR16_uc003ksp.3_Missense_Mutation_p.R183W|PRR16_uc003ksr.3_Missense_Mutation_p.R136W	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	206	Pro-rich.							p.R206S(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGAACGAGTTCGGTTTAATGA	0.473													T	120022105	C	T	120022105	3	4	271	1	0	0	0	0	1	0	0	0	12589	875	31	2	553	2	PRR16	5	120022105	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	4845019	120022105	60893155	37	18984											
CSNK1G3	1456	broad.mit.edu	37	5	122893189	122893189	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:122893189G>T	uc003ktm.3	+	4	939	c.220_splice	c.e4-1	p.E74_splice	CSNK1G3_uc003ktl.3_Splice_Site_p.E74_splice|CSNK1G3_uc003ktn.3_Splice_Site_p.E74_splice|CSNK1G3_uc003kto.3_Splice_Site_p.E74_splice|CSNK1G3_uc011cwr.2_Splice_Site|CSNK1G3_uc011cws.2_Intron|CSNK1G3_uc010jda.3_Splice_Site_p.E74_splice	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	74	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTTCAATTAGGAGCCCATGAA	0.303													T	122893189	G	T	122893189	4	4	271	1	0	0	0	0	0	1	0	0	3956	1188	41	5	230	5	CSNK1G3	5	122893189	Nonsense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	2871084	122893189	58022071	38	18985											
TRPC7	57113	broad.mit.edu	37	5	135693041	135693041	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:135693041C>T	uc003lbn.2	-	1	257	c.35G>A	c.(34-36)cGc>cAc	p.R12H	TRPC7_uc010jef.2_Missense_Mutation_p.R3H|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R12H|TRPC7_uc010jei.2_Missense_Mutation_p.R12H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	12					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGTGCCGGCGCTGCATGTT	0.572													T	135693041	C	T	135693041	3	4	271	1	0	0	0	0	1	0	0	0	16581	768	27	1	2597	1	TRPC7	5	135693041	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	12799852	135693041	45222219	39	18986											
NDFIP1	80762	broad.mit.edu	37	5	141511419	141511419	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:141511419A>G	uc003lmi.4	+	1	326	c.110A>G	c.(109-111)gAt>gGt	p.D37G	NDFIP1_uc003lmj.1_Missense_Mutation_p.D37G	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.	37					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	p.D37D(1)		large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGGTGATGCTCCTCCA	0.408													G	141511419	A	G	141511419	3	3	271	1	0	0	0	0	1	0	0	0	10245	333	12	4	116	4	NDFIP1	5	141511419	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	5818378	141511419	39403841	40	18987											
GABRG2	2566	broad.mit.edu	37	5	161530925	161530925	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:161530925A>T	uc010jjc.3	+	6	1140	c.782A>T	c.(781-783)cAa>cTa	p.Q261L	GABRG2_uc003lyy.4_Missense_Mutation_p.Q221L|GABRG2_uc003lyz.4_Missense_Mutation_p.Q221L|GABRG2_uc011dej.2_Missense_Mutation_p.Q126L	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	221					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.V261F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	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;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATTGTTTATCAATGGAAGCGA	0.388													T	161530925	A	T	161530925	3	4	271	1	0	0	0	0	1	0	0	0	6172	130	5	5	808	5	GABRG2	5	161530925	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	20019506	161530925	19384335	41	18988											
BNIP1	662	broad.mit.edu	37	5	172585746	172585746	+	Splice_Site	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:172585746G>A	uc003mci.4	+	5	503	c.399_splice	c.e5-1	p.S133_splice	BNIP1_uc003mcj.4_Splice_Site_p.S90_splice|BNIP1_uc003mck.4_Intron|BNIP1_uc003mcl.4_Intron|BNIP1_uc021yhw.1_Splice_Site_p.S3_splice	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	90					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCCAATTCCAGCAATCAGGCC	0.483													A	172585746	G	A	172585746	5	1	271	1	0	0	0	0	0	0	1	0	1476	985	34	3	416	3	BNIP1	5	172585746	Splice_Site	SNP	G	TCGA-76-6283-01A-11D-1845-08	11054821	172585746	8329514	42	18989											
CDHR2	54825	broad.mit.edu	37	5	176004494	176004494	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:176004494A>G	uc021yie.1	+	12	1563	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	CDHR2_uc003mem.2_Missense_Mutation_p.Q430R|CDHR2_uc003men.1_Missense_Mutation_p.Q430R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	430	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCTCCGTTCAGGTGCTGGTG	0.672													G	176004494	A	G	176004494	3	3	271	1	0	0	0	0	1	0	0	0	3119	188	7	4	1335	4	CDHR2	5	176004494	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	3418748	176004494	4910766	43	18990											
DSP	1832	broad.mit.edu	37	6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:7576615C>T	uc003mxp.1	+	18	2998	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	DSP_uc003mxq.1_Missense_Mutation_p.R907C|DSP_uc021yle.1_Missense_Mutation_p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	907	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423													T	7576615	C	T	7576615	3	4	271	1	0	0	0	0	1	0	0	0	4781	536	19	1	2793	1	DSP	6	7576615	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		7576615	163538452	44	18991											
TAP2	6891	broad.mit.edu	37	6	32798068	32798068	+	Silent	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:32798068A>G	uc011dqf.1	-	8	1733	c.1611T>C	c.(1609-1611)taT>taC	p.Y537Y	TAP2_uc003ocb.1_Silent_p.Y537Y|TAP2_uc003occ.3_Silent_p.Y537Y|TAP2_uc003ocd.3_Silent_p.Y537Y	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	537	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AGCAGTGTTCATACTGTGAGA	0.587													G	32798068	A	G	32798068	2	3	271	1	0	0	0	0	0	0	0	1	15548	224	8	4		4	TAP2	6	32798068	Silent	SNP	A	TCGA-76-6283-01A-11D-1845-08	25221453	32798068	138316999	45	18992											
TREML2	79865	broad.mit.edu	37	6	41166078	41166078	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:41166078G>A	uc010jxm.1	-	1	324	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	49	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTCCACGCGGTTTTTGTAG	0.547													A	41166078	G	A	41166078	3	1	271	1	0	0	0	0	1	0	0	0	16470	1116	39	2	836	2	TREML2	6	41166078	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	8368010	41166078	129948989	46	18993											
ABCC10	89845	broad.mit.edu	37	6	43417751	43417751	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:43417751C>T	uc003ouy.1	+	21	4616	c.4401C>T	c.(4399-4401)cgC>cgT	p.R1467R	ABCC10_uc003ouz.1_Silent_p.R1439R|ABCC10_uc010jyo.1_Silent_p.R573R	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1467	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCACCCTGCGCAACCAGCCCC	0.642													T	43417751	C	T	43417751	2	4	271	1	0	0	0	0	0	0	0	1	50	697	25	3		3	ABCC10	6	43417751	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	2251673	43417751	127697316	47	18994											
ZDHHC4	55146	broad.mit.edu	37	7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:6628405G>A	uc003sqi.3	+	8	1257	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	300						integral to membrane	acyltransferase activity|zinc ion binding	p.R300H(4)|p.Q299*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577													A	6628405	G	A	6628405	3	1	271	1	0	0	0	0	1	0	0	0	17614	1145	40	1	921	1	ZDHHC4	7	6628405	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		6628405	152510258	48	18995											
CALCR	799	broad.mit.edu	37	7	93108737	93108737	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:93108737C>T	uc003umv.2	-	4	488	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R45Q|CALCR_uc003umw.2_Missense_Mutation_p.R45Q	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	45					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CATCTTCTTTCGTCCTACGAC	0.403													T	93108737	C	T	93108737	3	4	271	1	0	0	0	0	1	0	0	0	2579	884	31	2	1386	2	CALCR	7	93108737	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	86480332	93108737	66029926	49	18996											
RBM28	55131	broad.mit.edu	37	7	127979698	127979698	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:127979698T>C	uc003vmp.2	-	1	381	c.266A>G	c.(265-267)aAg>aGg	p.K89R	RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.K36R	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	89					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ATTTTTCCCCTTTTCCTTTGT	0.443													C	127979698	T	C	127979698	3	2	271	1	0	0	0	0	1	0	0	0	13128	1609	56	4	2085	4	RBM28	7	127979698	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	34870961	127979698	31158965	50	18997											
INTS10	55174	broad.mit.edu	37	8	19677962	19677962	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:19677962C>T	uc022asn.1	+	3	505	c.374C>T	c.(373-375)aCg>aTg	p.T125M	INTS10_uc003wzj.3_Missense_Mutation_p.T125M	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	125					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGCTTCAACACGTTAGAACGA	0.403													T	19677962	C	T	19677962	3	4	271	1	0	0	0	0	1	0	0	0	7776	536	19	1	388	1	INTS10	8	19677962	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		19677962	126686060	51	18998											
DCAF4L2	138009	broad.mit.edu	37	8	88886278	88886278	+	Translation_Start_Site	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:88886278C>T	uc003ydz.3	-	0						NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.											breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTACAAGCACGACTTGGCAC	0.577													T	88886278	C	T	88886278	1	4	271	1	0	0	0	0	0	0	0	0	4272	551	19	1		1	DCAF4L2	8	88886278	Translation_Start_Site	SNP	C	TCGA-76-6283-01A-11D-1845-08	69208316	88886278	57477744	52	18999											
SLC25A32	81034	broad.mit.edu	37	8	104417070	104417070	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:104417070A>T	uc003yll.3	-	2	628	c.325T>A	c.(325-327)Tat>Aat	p.Y109N	SLC25A32_uc011lhr.2_Intron	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	109					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TCTGTTTTATATGACTTGATG	0.353													T	104417070	A	T	104417070	3	4	271	1	0	0	0	0	1	0	0	0	14496	449	16	5	642	5	SLC25A32	8	104417070	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	15530792	104417070	41946952	53	19000											
GPRIN2	9721	broad.mit.edu	37	10	46999114	46999114	+	Silent	SNP	T	T	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr10:46999114T>G	uc001jec.3	+	2	369	c.234T>G	c.(232-234)tcT>tcG	p.S78S	GPRIN2_uc021ppt.1_Silent_p.S78S	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	78										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CACGGGCCTCTGGCCCCAAGG	0.706													G	46999114	T	G	46999114	2	3	271	1	0	0	0	0	0	0	0	1	6730	1567	55	5		5	GPRIN2	10	46999114	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08		46999114	88535633	54	19001											
PTEN	5728	broad.mit.edu	37	10	89624265	89624267	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr10:89624265_89624267delAAG	uc001kfb.3	+	0	1071_1073	c.39_41delAAG	c.(37-42)aaaagg>aag	p.R15del	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	15	Phosphatase tensin-type.		R -> S (in glioma).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.R14G(4)|p.R15I(4)|p.R15S(3)|p.R14fs*29(2)|p.R15K(2)|p.R14M(2)|p.I8_R14>LRLICIF(2)|p.R14fs*10(2)|p.R14_D22del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.R15fs*28(1)|p.R15fs*9(1)|p.K13del(1)|p.N12fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCAGAAACAAAAGGAGATATCAA	0.488		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89624267	AAG	-	89624265	7	5	271	1	0	1	0	1	0	0	0	0	12738	11	1	0	41	0	PTEN	10	89624265	In_Frame_Del	DEL	AAG	TCGA-76-6283-01A-11D-1845-08	42625151	89624265	45910482	55	19002											
CPT1A	1374	broad.mit.edu	37	11	68549243	68549243	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr11:68549243C>T	uc001oog.4	-	10	1518	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	CPT1A_uc001oof.4_Missense_Mutation_p.D450N	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	450					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			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)	CGGTACCTGTCGTAACATCGG	0.473													T	68549243	C	T	68549243	3	4	271	1	0	0	0	0	1	0	0	0	3831	884	31	2	1049	2	CPT1A	11	68549243	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		68549243	66457273	56	19003											
FAT3	120114	broad.mit.edu	37	11	92539549	92539549	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr11:92539549C>T	uc001pdj.4	+	10	9132	c.9115C>T	c.(9115-9117)Cct>Tct	p.P3039S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3039	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				AGCATTACTTCCTGAAGACAT	0.358										TCGA Ovarian(4;0.039)			T	92539549	C	T	92539549	3	4	271	1	0	0	0	0	1	0	0	0	5691	855	30	3	9157	3	FAT3	11	92539549	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	23990306	92539549	42466967	57	19004											
CD163L1	283316	broad.mit.edu	37	12	7559424	7559424	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:7559424A>G	uc010sge.2	-	4	847	c.821T>C	c.(820-822)cTt>cCt	p.L274P	CD163L1_uc001qsy.3_Missense_Mutation_p.L264P	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	264	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACCTACAAGCCTTAGTTC	0.448													G	7559424	A	G	7559424	3	3	271	1	0	0	0	0	1	0	0	0	2968	72	3	4	3630	4	CD163L1	12	7559424	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08		7559424	126292471	58	19005											
AICDA	57379	broad.mit.edu	37	12	8759510	8759510	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:8759510C>T	uc001qur.2	-	1	186	c.107G>A	c.(106-108)cGt>cAt	p.R36H	AICDA_uc001qup.1_Missense_Mutation_p.R31H|AICDA_uc001quq.1_Missense_Mutation_p.R31H|AICDA_uc009zgd.1_Non-coding_Transcript	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	36					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGCACTGTCACGCCTCTTCAC	0.463													T	8759510	C	T	8759510	3	4	271	1	0	0	0	0	1	0	0	0	422	536	19	1	505	1	AICDA	12	8759510	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1200086	8759510	125092385	59	19006											
SENP1	29843	broad.mit.edu	37	12	48465464	48465464	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:48465464C>T	uc001rqx.3	-	8	1427	c.981G>A	c.(979-981)caG>caA	p.Q327Q	SENP1_uc001rqw.3_Silent_p.Q327Q|SENP1_uc001rqy.3_Silent_p.Q128Q|SENP1_uc001rqz.3_Silent_p.Q128Q|SENP1_uc009zkx.3_Silent_p.Q327Q	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	327					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GAGTTGGAGTCTGGGAATCTT	0.358													T	48465464	C	T	48465464	2	4	271	1	0	0	0	0	0	0	0	1	14046	912	32	3		3	SENP1	12	48465464	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	39705954	48465464	85386431	60	19007											
DGKA	1606	broad.mit.edu	37	12	56336026	56336026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:56336026C>T	uc001sij.3	+	16	1669	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	DGKA_uc001sih.1_Nonsense_Mutation_p.R357*|DGKA_uc001sii.1_Nonsense_Mutation_p.R327*|DGKA_uc009zod.1_Nonsense_Mutation_p.R388*|DGKA_uc001sik.3_Nonsense_Mutation_p.R469*|DGKA_uc001sil.3_Nonsense_Mutation_p.R469*|DGKA_uc001sim.3_Nonsense_Mutation_p.R469*|DGKA_uc001sin.3_Nonsense_Mutation_p.R469*|DGKA_uc009zof.3_Nonsense_Mutation_p.R115*|DGKA_uc001sio.3_Nonsense_Mutation_p.R211*	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	469	DAGKc.				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			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGATCTGGCTCGATGCCTAAG	0.498													T	56336026	C	T	56336026	4	4	271	1	0	0	0	0	0	1	0	0	4465	876	31	2	1467	2	DGKA	12	56336026	Nonsense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	7870562	56336026	77515869	61	19008											
SSH1	54434	broad.mit.edu	37	12	109194640	109194640	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:109194640T>C	uc001tnm.3	-	11	1151	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	SSH1_uc001tnl.3_Missense_Mutation_p.Y43C|SSH1_uc010sxg.2_Missense_Mutation_p.Y366C|SSH1_uc001tnn.4_Missense_Mutation_p.Y355C	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	355	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGTTATGATATGCAAATAA	0.363													C	109194640	T	C	109194640	3	2	271	1	0	0	0	0	1	0	0	0	15183	1406	49	4	2287	4	SSH1	12	109194640	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	52858614	109194640	24657255	62	19009											
VSIG10	54621	broad.mit.edu	37	12	118509166	118509166	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:118509166T>G	uc001tws.3	-	5	1662	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	443						integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTCCTTACCTTTCCAGCAGAA	0.532													G	118509166	T	G	118509166	3	3	271	1	0	0	0	0	1	0	0	0	17220	1841	64	5	310	5	VSIG10	12	118509166	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	9314526	118509166	15342729	63	19010											
RB1	5925	broad.mit.edu	37	13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr13:48941638_48941641delTCTT	uc001vcb.3	+	9	1114_1117	c.948_951delTCTT	c.(946-951)aatcttfs	p.N316fs	RB1_uc010act.1_Frame_Shift_Del_p.N17fs	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	316					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48941641	TCTT	-	48941638	7	5	271	1	0	1	0	1	0	0	0	0	13098	1432	50	0	986	0	RB1	13	48941638	Frame_Shift_Del	DEL	TCTT	TCGA-76-6283-01A-11D-1845-08		48941638	66228240	64	19011											
PIBF1	10464	broad.mit.edu	37	13	73372127	73372127	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr13:73372127T>A	uc001vjc.3	+	4	940	c.635T>A	c.(634-636)tTa>tAa	p.L212*	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Nonsense_Mutation_p.L212*|PIBF1_uc010aep.3_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	212						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GCAGAAGAATTAAGTACAAAC	0.373													A	73372127	T	A	73372127	4	1	271	1	0	0	0	0	0	1	0	0	11879	1764	61	5	649	5	PIBF1	13	73372127	Nonsense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	24430489	73372127	41797751	65	19012											
MIA2	117153	broad.mit.edu	37	14	39722420	39722420	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr14:39722420G>T	uc001wux.3	+	5	2126	c.1932G>T	c.(1930-1932)ttG>ttT	p.L644F		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TACCTATTTTGCTAAATATAA	0.289													T	39722420	G	T	39722420	3	4	271	1	0	0	0	0	1	0	0	0	9564	1310	46	5	1954	5	MIA2	14	39722420	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		39722420	67627120	66	19013											
FLVCR2	55640	broad.mit.edu	37	14	76107379	76107379	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr14:76107379C>T	uc001xrs.2	+	6	1693	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLVCR2_uc010tvd.1_Silent_p.S234S	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	439				S -> F (in Ref. 3; BAA91126).	transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCATCTCCTCCGGCCTCCTCA	0.502													T	76107379	C	T	76107379	2	4	271	1	0	0	0	0	0	0	0	1	5946	639	23	2		2	FLVCR2	14	76107379	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	36384959	76107379	31242161	67	19014											
SPTBN5	51332	broad.mit.edu	37	15	42148626	42148626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:42148626delA	uc001zos.3	-	52	9207	c.8874delT	c.(8872-8874)cttfs	p.L2958fs		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2993					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTGCAGCAGAAGCCGCCTCC	0.697													-	42148626	A	-	42148626	7	5	271	1	0	1	0	1	0	0	0	0	15121	233	9	0	2109	0	SPTBN5	15	42148626	Frame_Shift_Del	DEL	A	TCGA-76-6283-01A-11D-1845-08		42148626	60382766	68	19015											
ZSCAN29	146050	broad.mit.edu	37	15	43661801	43661801	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:43661801C>G	uc001zrk.1	-	0	458	c.311G>C	c.(310-312)aGa>aCa	p.R104T	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdg.1_Missense_Mutation_p.R103T|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R103T|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.R103T|TUBGCP4_uc001zrn.3_5'Flank|TUBGCP4_uc001zro.3_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	104			R -> G (in dbSNP:rs3809482).		viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		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;8.97e-07)		CACCGAAGATCTAGGTCTTCC	0.468													G	43661801	C	G	43661801	3	3	271	1	0	0	0	0	1	0	0	0	18233	913	32	5	2267	5	ZSCAN29	15	43661801	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1513175	43661801	58869591	69	19016											
ONECUT1	3175	broad.mit.edu	37	15	53081863	53081863	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:53081863C>T	uc002aci.1	-	0	347	c.219G>A	c.(217-219)cgG>cgA	p.R73R		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	73					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCTCAGGGGCCCGGTGGTGGT	0.711													T	53081863	C	T	53081863	2	4	271	1	0	0	0	0	0	0	0	1	10868	610	22	3		3	ONECUT1	15	53081863	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	9420062	53081863	49449529	70	19017											
TCF12	6938	broad.mit.edu	37	15	57565229	57565244	+	Frame_Shift_Del	DEL	AGTACTAATGAAGATG	AGTACTAATGAAGATG	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:57565229_57565244delAGTACTAATGAAGATG	uc002aec.3	+	17	1959_1974	c.1675_1690delAGTACTAATGAAGATG	c.(1675-1692)agtactaatgaagatgagfs	p.S559fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.S611fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.S579fs|TCF12_uc002aea.3_Frame_Shift_Del_p.S583fs|TCF12_uc010bfs.3_5'UTR|TCF12_uc002aeb.3_Frame_Shift_Del_p.S583fs|TCF12_uc002aed.3_Frame_Shift_Del_p.S559fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.S323fs|TCF12_uc002aee.3_Frame_Shift_Del_p.S389fs|TCF12_uc010bft.3_Frame_Shift_Del_p.S413fs|TCF12_uc010ugp.2_Splice_Site_p.S216_splice|TCF12_uc010ugq.2_Frame_Shift_Del_p.S193fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.S172fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	559					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATTTTCTAGCAGTACTAATGAAGATGAGGATTTGAA	0.384			T	TEC	extraskeletal myxoid chondrosarcoma								-	57565244	AGTACTAATGAAGATG	-	57565229	7	5	271	1	0	1	0	1	0	0	0	0	15684	202	7	0	1890	0	TCF12	15	57565229	Frame_Shift_Del	DEL	AGTACTAATGAAGATG	TCGA-76-6283-01A-11D-1845-08	4483366	57565229	44966163	71	19018											
ZNF592	9640	broad.mit.edu	37	15	85326217	85326217	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:85326217C>A	uc002bld.3	+	3	647	c.311C>A	c.(310-312)cCc>cAc	p.P104H	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	104					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCCAGATCCCCACAACTGT	0.512													A	85326217	C	A	85326217	3	1	271	1	0	0	0	0	1	0	0	0	18019	623	22	5	313	5	ZNF592	15	85326217	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	27760988	85326217	17205175	72	19019											
SLC28A1	9154	broad.mit.edu	37	15	85478601	85478601	+	Missense_Mutation	SNP	C	C	T	rs116070802	by1000genomes	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:85478601C>T	uc002blg.3	+	14	1635	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V	SLC28A1_uc010bnb.3_Missense_Mutation_p.A478V|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A478V|SLC28A1_uc010upg.1_Missense_Mutation_p.A478V	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	478					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGGGTGTGGCGTGGGAGGAC	0.597													T	85478601	C	T	85478601	3	4	271	1	0	0	0	0	1	0	0	0	14531	768	27	1	1554	1	SLC28A1	15	85478601	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	152384	85478601	17052791	73	19020											
CRTC3	64784	broad.mit.edu	37	15	91184403	91184403	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:91184403C>T	uc002bpp.3	+	13	1729	c.1623C>T	c.(1621-1623)tgC>tgT	p.C541C	CRTC3_uc002bpo.3_Silent_p.C541C	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	541					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ATTCCAACTGCGGGAGTCTCC	0.507			T	MAML2	salivary gland mucoepidermoid								T	91184403	C	T	91184403	2	4	271	1	0	0	0	0	0	0	0	1	3901	776	27	1		1	CRTC3	15	91184403	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	5705802	91184403	11346989	74	19021											
WDR90	197335	broad.mit.edu	37	16	711897	711897	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:711897C>T	uc002cii.1	+	31	3925	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Nonsense_Mutation_p.R818*|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Nonsense_Mutation_p.R465*|WDR90_uc002cin.1_5'UTR	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1291										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGGTGCGTCGAGAGCCAGT	0.637													T	711897	C	T	711897	4	4	271	1	0	0	0	0	0	1	0	0	17334	876	31	2	3997	2	WDR90	16	711897	Nonsense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		711897	89642856	75	19022											
MLST8	64223	broad.mit.edu	37	16	2256621	2256621	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:2256621C>T	uc002coy.3	+	3	696	c.305C>T	c.(304-306)aCg>aTg	p.T102M	MLST8_uc002cpc.3_Missense_Mutation_p.T102M|MLST8_uc010uvx.2_Missense_Mutation_p.T36M|MLST8_uc002cpd.3_Missense_Mutation_p.T36M|MLST8_uc002cpb.3_Missense_Mutation_p.T101M|MLST8_uc002coz.3_Missense_Mutation_p.T102M|MLST8_uc002cpe.3_Missense_Mutation_p.T102M|MLST8_uc010uvy.2_Missense_Mutation_p.T102M|MLST8_uc002cpf.3_Missense_Mutation_p.T102M|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	102					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						TGGATGTACACGGGCGGCGAG	0.632													T	2256621	C	T	2256621	3	4	271	1	0	0	0	0	1	0	0	0	9634	536	19	1	315	1	MLST8	16	2256621	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1544724	2256621	88098132	76	19023											
CCNF	899	broad.mit.edu	37	16	2506722	2506722	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:2506722C>T	uc002cqd.1	+	16	2150	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	CCNF_uc002cqe.1_Missense_Mutation_p.R380C	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	688	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACCCCTGGTCCGCACCAGCCG	0.662													T	2506722	C	T	2506722	3	4	271	1	0	0	0	0	1	0	0	0	2922	652	23	2	2128	2	CCNF	16	2506722	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	250101	2506722	87848031	77	19024											
GOT2	2806	broad.mit.edu	37	16	58752174	58752174	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:58752174G>A	uc002eof.1	-	5	742	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	GOT2_uc010vim.1_Missense_Mutation_p.H167Y	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	210					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.H210R(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)	GCGCAGGCATGCAGAAGAAGA	0.498													A	58752174	G	A	58752174	3	1	271	1	0	0	0	0	1	0	0	0	6581	1319	46	3	684	3	GOT2	16	58752174	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	56245452	58752174	31602579	78	19025											
CNTNAP4	85445	broad.mit.edu	37	16	76486640	76486640	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:76486640G>A	uc002fex.1	+	6	1455	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	CNTNAP4_uc002feu.1_Missense_Mutation_p.G435E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G300E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G363E|CNTNAP4_uc002few.2_Missense_Mutation_p.G411E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	436	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TACCAGCCAGGAAAATTACCC	0.428													A	76486640	G	A	76486640	3	1	271	1	0	0	0	0	1	0	0	0	3649	1174	41	3	1350	3	CNTNAP4	16	76486640	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	17734466	76486640	13868113	79	19026											
ZC3H18	124245	broad.mit.edu	37	16	88688687	88688687	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:88688687C>T	uc010voz.2	+	9	1830	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	ZC3H18_uc002fky.3_Missense_Mutation_p.R520C|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	520	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGACCCTTGGCGCCGATCCAA	0.602													T	88688687	C	T	88688687	3	4	271	1	0	0	0	0	1	0	0	0	17565	768	27	1	1588	1	ZC3H18	16	88688687	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	12202047	88688687	1666066	80	19027											
PITPNM3	83394	broad.mit.edu	37	17	6376097	6376097	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:6376097C>T	uc002gdd.4	-	10	1460	c.1309G>A	c.(1309-1311)Gca>Aca	p.A437T	PITPNM3_uc010cln.3_Missense_Mutation_p.A401T|PITPNM3_uc010clm.3_5'UTR|PITPNM3_uc002gdc.4_Missense_Mutation_p.A28T	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	437	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GAGGGGTCTGCGCAATGGAAG	0.632													T	6376097	C	T	6376097	3	4	271	1	0	0	0	0	1	0	0	0	11952	768	27	1	1655	1	PITPNM3	17	6376097	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		6376097	74819113	81	19028											
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:7578457C>T	uc002gim.2	-	4	667	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(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)		GGCCATGGCGCGGACGCGGGT	0.627		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)			T	7578457	C	T	7578457	3	4	271	1	0	0	0	0	1	0	0	0	16378	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1202360	7578457	73616753	82	19029											
MED13	9969	broad.mit.edu	37	17	60072508	60072512	+	Splice_Site	DEL	CTTAC	CTTAC	-			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:60072508_60072512delCTTAC	uc002izo.3	-	10	2258	c.2181_splice	c.e10+1	p.K727_splice		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	727					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTGATTTCTCTTACCTTGTGTTTT	0.346													-	60072512	CTTAC	-	60072508	8	5	271	1	0	1	0	1	0	0	1	0	9430	928	32	0		0	MED13	17	60072508	Splice_Site	DEL	CTTAC	TCGA-76-6283-01A-11D-1845-08	52494051	60072508	21122702	83	19030											
FSCN2	25794	broad.mit.edu	37	17	79503762	79503762	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:79503762C>T	uc010wuo.2	+	3	1433	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	FSCN2_uc010wup.2_Missense_Mutation_p.S407F	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	407					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCAACCGCTCCGTCTACGAC	0.701													T	79503762	C	T	79503762	3	4	271	1	0	0	0	0	1	0	0	0	6068	855	30	3	1145	3	FSCN2	17	79503762	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	19431254	79503762	1691448	84	19031											
LAMA3	3909	broad.mit.edu	37	18	21441699	21441699	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr18:21441699G>A	uc002kuq.3	+	34	4598	c.4512G>A	c.(4510-4512)gcG>gcA	p.A1504A	LAMA3_uc002kur.3_Silent_p.A1504A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1504	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTATGGTGGCGGATCTCCAGG	0.587													A	21441699	G	A	21441699	2	1	271	1	0	0	0	0	0	0	0	1	8607	1103	39	2		2	LAMA3	18	21441699	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08		21441699	56635549	85	19032											
DPP9	91039	broad.mit.edu	37	19	4704202	4704202	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:4704202G>A	uc002mba.3	-	5	799	c.541C>T	c.(541-543)Ctc>Ttc	p.L181F		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	152					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCTGGAAGAGGAAGAGGCCA	0.657													A	4704202	G	A	4704202	3	1	271	1	0	0	0	0	1	0	0	0	4733	1000	35	3	2205	3	DPP9	19	4704202	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		4704202	54424781	86	19033											
VAV1	7409	broad.mit.edu	37	19	6828671	6828671	+	Silent	SNP	C	C	T	rs61750002		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:6828671C>T	uc002mfu.1	+	11	1228	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	VAV1_uc010xjh.1_Silent_p.N345N|VAV1_uc010dva.1_Silent_p.N377N|VAV1_uc002mfv.1_Silent_p.N322N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	377					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGCGAGACAACGAGACACTGC	0.637													T	6828671	C	T	6828671	2	4	271	1	0	0	0	0	0	0	0	1	17128	535	19	1		1	VAV1	19	6828671	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	2124469	6828671	52300312	87	19034											
IL12RB1	3594	broad.mit.edu	37	19	18174730	18174730	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:18174730G>A	uc002nhx.1	-	13	1745	c.1694C>T	c.(1693-1695)gCg>gTg	p.A565V	IL12RB1_uc002nhw.1_Missense_Mutation_p.A525V|IL12RB1_uc010xqb.1_Missense_Mutation_p.A525V	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	525					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCAGCCACGCTGTGTCTGC	0.632													A	18174730	G	A	18174730	3	1	271	1	0	0	0	0	1	0	0	0	7626	1087	38	1	434	1	IL12RB1	19	18174730	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	11346059	18174730	40954253	88	19035											
IGFL3	388555	broad.mit.edu	37	19	46627409	46627409	+	Silent	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:46627409A>T	uc002pea.1	-	2	109	c.84T>A	c.(82-84)gcT>gcA	p.A28A		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	28						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		AGCCAACAGGAGCGTCTGGGG	0.507													T	46627409	A	T	46627409	2	4	271	1	0	0	0	0	0	0	0	1	7588	291	11	5		5	IGFL3	19	46627409	Silent	SNP	A	TCGA-76-6283-01A-11D-1845-08	28452679	46627409	12501574	89	19036											
SULT2B1	6820	broad.mit.edu	37	19	49090651	49090651	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:49090651C>T	uc002pjl.3	+	2	461	c.380C>T	c.(379-381)cCc>cTc	p.P127L	SULT2B1_uc002pjm.3_Missense_Mutation_p.P112L	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	127					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCCCATCTTCCCATCCAGATC	0.612													T	49090651	C	T	49090651	3	4	271	1	0	0	0	0	1	0	0	0	15379	623	22	3	416	3	SULT2B1	19	49090651	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	2463242	49090651	10038332	90	19037											
KLK9	284366	broad.mit.edu	37	19	51509764	51509764	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:51509764G>A	uc002pux.1	-	2	503	c.416C>T	c.(415-417)cCa>cTa	p.P139L	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.P110L|KLK8_uc002puv.1_5'Flank	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	139	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CTGCATGCCTGGGGAGACACA	0.602													A	51509764	G	A	51509764	3	1	271	1	0	0	0	0	1	0	0	0	8411	1348	47	3	348	3	KLK9	19	51509764	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	2419113	51509764	7619219	91	19038											
SIGLEC8	27181	broad.mit.edu	37	19	51957534	51957534	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:51957534G>T	uc002pwt.3	-	5	1251	c.1184C>A	c.(1183-1185)gCa>gAa	p.A395E	SIGLEC8_uc010yda.2_Missense_Mutation_p.A286E|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.A302E	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	395					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACGCCCGCTGCTGGCCTTGC	0.602													T	51957534	G	T	51957534	3	4	271	1	0	0	0	0	1	0	0	0	14314	1319	46	5	323	5	SIGLEC8	19	51957534	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	447770	51957534	7171449	92	19039											
ZNF845	91664	broad.mit.edu	37	19	53854579	53854579	+	Silent	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:53854579T>C	uc010ydv.1	+	3	768	c.651T>C	c.(649-651)tgT>tgC	p.C217C	ZNF845_uc010ydw.1_Silent_p.C217C	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTTCCAATGTAATGAGAGTG	0.353													C	53854579	T	C	53854579	2	2	271	1	0	0	0	0	0	0	0	1	18188	1644	57	4		4	ZNF845	19	53854579	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08	1897045	53854579	5274404	93	19040											
NLRP9	338321	broad.mit.edu	37	19	56241342	56241342	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:56241342C>T	uc002qly.3	-	2	1877	c.1849G>A	c.(1849-1851)Gtc>Atc	p.V617I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	617						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)		CGCCAGTAGACGAGCTTCTCA	0.418													T	56241342	C	T	56241342	3	4	271	1	0	0	0	0	1	0	0	0	10484	536	19	1	1154	1	NLRP9	19	56241342	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	2386763	56241342	2887641	94	19041											
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	by1000genomes	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:51870661G>A	uc002xwo.3	+	1	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(2)|p.A222V(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)			ACAGTGCAGCGCGGCCTATGA	0.562													A	51870661	G	A	51870661	3	1	271	1	0	0	0	0	1	0	0	0	16621	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		51870661	11154859	95	19042											
PCK1	5105	broad.mit.edu	37	20	56137157	56137157	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:56137157G>A	uc002xyn.4	+	2	418	c.255G>A	c.(253-255)gtG>gtA	p.V85V	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	85					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			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)			CCAGGGATGTGGCCAGGATCG	0.572													A	56137157	G	A	56137157	2	1	271	1	0	0	0	0	0	0	0	1	11581	1335	47	3		3	PCK1	20	56137157	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	4266496	56137157	6888363	96	19043											
SYCP2	10388	broad.mit.edu	37	20	58467201	58467201	+	Silent	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:58467201C>T	uc002yaz.3	-	22	2347	c.2208G>A	c.(2206-2208)tcG>tcA	p.S736S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	736					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.S736L(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATATATCAGCGATTCTTCAA	0.348													T	58467201	C	T	58467201	2	4	271	1	0	0	0	0	0	0	0	1	15429	755	27	1		1	SYCP2	20	58467201	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	2330044	58467201	4558319	97	19044											
KRTAP26-1	388818	broad.mit.edu	37	21	31692021	31692021	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr21:31692021G>A	uc002ynw.3	-	0	587	c.333C>T	c.(331-333)tcC>tcT	p.S111S		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	111						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTGGTCTACAGGATACTGGAA	0.547													A	31692021	G	A	31692021	2	1	271	1	0	0	0	0	0	0	0	1	8543	987	35	3		3	KRTAP26-1	21	31692021	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08		31692021	16437874	98	19045											
KAL1	3730	broad.mit.edu	37	X	8555862	8555862	+	Silent	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:8555862G>A	uc004csf.3	-	4	849	c.699C>T	c.(697-699)gaC>gaT	p.D233D		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	233	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGTGAGTGGCGTCATCTTCGC	0.423													A	8555862	G	A	8555862	2	1	271	1	0	0	0	0	0	0	0	1	7974	1136	40	1		1	KAL1	23	8555862	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08		8555862	146714698	99	19046											
BEND2	139105	broad.mit.edu	37	X	18238990	18238990	+	Translation_Start_Site	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:18238990G>A	uc004cyj.4	-	0					BEND2_uc010nfb.2_5'UTR	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCGTACACTCGTTGTCCGAGG	0.647													A	18238990	G	A	18238990	1	1	271	1	0	0	0	0	0	0	0	0	1398	1160	40	1		1	BEND2	23	18238990	Translation_Start_Site	SNP	G	TCGA-76-6283-01A-11D-1845-08	9683128	18238990	137031570	100	19047											
ARHGEF9	23229	broad.mit.edu	37	X	62875413	62875413	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:62875413T>C	uc004dvl.2	-	7	2100	c.1261A>G	c.(1261-1263)Aga>Gga	p.R421G	ARHGEF9_uc011mos.1_Missense_Mutation_p.R400G|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R239G|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R400G|ARHGEF9_uc004dvj.2_Missense_Mutation_p.R319G|ARHGEF9_uc011mot.2_Missense_Mutation_p.R368G|ARHGEF9_uc004dvn.3_Missense_Mutation_p.R428G	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	421	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTCTCTTCTCTGAAAGCCCTG	0.413													C	62875413	T	C	62875413	3	2	271	1	0	0	0	0	1	0	0	0	912	1588	55	4	301	4	ARHGEF9	23	62875413	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	44636423	62875413	92395147	101	19048											
LAS1L	81887	broad.mit.edu	37	X	64749656	64749656	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:64749656A>T	uc004dwa.2	-	4	708	c.617T>A	c.(616-618)aTa>aAa	p.I206K	LAS1L_uc004dwc.2_Missense_Mutation_p.I206K|LAS1L_uc004dwd.2_Missense_Mutation_p.I164K	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	206						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCTTCCTCTATCCCTTCCCT	0.488													T	64749656	A	T	64749656	3	4	271	1	0	0	0	0	1	0	0	0	8636	449	16	5	1627	5	LAS1L	23	64749656	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	1874243	64749656	90520904	102	19049											
MED12	9968	broad.mit.edu	37	X	70357763	70357763	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:70357763C>A	uc004dyy.3	+	40	6213	c.6014C>A	c.(6013-6015)aCc>aAc	p.T2005N	MED12_uc011mpq.1_Missense_Mutation_p.T1980N|MED12_uc004dyz.3_Missense_Mutation_p.T2004N|MED12_uc004dza.3_Missense_Mutation_p.T1855N|MED12_uc010nla.3_Missense_Mutation_p.T634N	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2005	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGGCCCCCACCTATGGACAT	0.547			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70357763	C	A	70357763	3	1	271	1	0	0	0	0	1	0	0	0	9428	507	18	5	6176	5	MED12	23	70357763	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	5608107	70357763	84912797	103	19050											
TBX22	50945	broad.mit.edu	37	X	79282236	79282236	+	Silent	SNP	C	C	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:79282236C>A	uc010nmg.1	+	5	801	c.667C>A	c.(667-669)Cga>Aga	p.R223R	TBX22_uc004edi.1_Silent_p.R103R|TBX22_uc004edj.1_Silent_p.R223R	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	223					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R223*(2)|p.P222H(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTACAAACCCCGAGTGCACGT	0.453													A	79282236	C	A	79282236	2	1	271	1	0	0	0	0	0	0	0	1	15655	644	23	5		5	TBX22	23	79282236	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	8924473	79282236	75988324	104	19051											
KLHL4	56062	broad.mit.edu	37	X	86890583	86890583	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:86890583G>A	uc004efa.2	+	8	1915	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	KLHL4_uc004efb.2_Missense_Mutation_p.R578H	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	578						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGTGGACGTGATGGAAGT	0.393													A	86890583	G	A	86890583	3	1	271	1	0	0	0	0	1	0	0	0	8391	1145	40	1	1767	1	KLHL4	23	86890583	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	7608347	86890583	68379977	105	19052											
PCDH11X	27328	broad.mit.edu	37	X	91133806	91133806	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:91133806C>T	uc004efk.2	+	1	3412	c.2567C>T	c.(2566-2568)aCc>aTc	p.T856I	PCDH11X_uc004efl.2_Missense_Mutation_p.T856I|PCDH11X_uc010nmv.2_Missense_Mutation_p.T856I|PCDH11X_uc004efm.2_Missense_Mutation_p.T856I|PCDH11X_uc004efn.2_Missense_Mutation_p.T856I|PCDH11X_uc004efo.2_Missense_Mutation_p.T856I|PCDH11X_uc004efh.2_Missense_Mutation_p.T856I|PCDH11X_uc004efj.1_Missense_Mutation_p.T856I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	856					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			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						GAATGGGCTACCCCAAACCCA	0.403													T	91133806	C	T	91133806	3	4	271	1	0	0	0	0	1	0	0	0	11508	507	18	3	2573	3	PCDH11X	23	91133806	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	4243223	91133806	64136754	106	19053											
TAF7L	54457	broad.mit.edu	37	X	100541563	100541563	+	Missense_Mutation	SNP	G	G	A	rs149116664		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:100541563G>A	uc004ehb.3	-	3	429	c.403_splice	c.e3+1	p.P135_splice	TAF7L_uc004eha.3_Splice_Site_p.P49_splice|TAF7L_uc004ehc.2_Splice_Site_p.P49_splice	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	135					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AACTACTTACGCAATAAGTCA	0.333													A	100541563	G	A	100541563	3	1	271	1	0	0	0	0	1	0	0	0	15530	1101	38	1	1029	1	TAF7L	23	100541563	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	9407757	100541563	54728997	107	19054											
ACSL4	2182	broad.mit.edu	37	X	108924259	108924259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:108924259G>T	uc004eoi.2	-	6	1251	c.746C>A	c.(745-747)tCa>tAa	p.S249*	ACSL4_uc004eoj.2_Nonsense_Mutation_p.S208*|ACSL4_uc004eok.2_Nonsense_Mutation_p.S208*|ACSL4_uc010npp.1_Nonsense_Mutation_p.S249*	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	249					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CTCTTCTACTGATTGCATGCT	0.333													T	108924259	G	T	108924259	4	4	271	1	0	0	0	0	0	1	0	0	179	1294	45	5	1433	5	ACSL4	23	108924259	Nonsense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	8382696	108924259	46346301	108	19055											
UPF3B	65109	broad.mit.edu	37	X	118975081	118975084	+	Frame_Shift_Del	DEL	TCTG	TCTG	-	rs142862074	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:118975081_118975084delTCTG	uc004erz.2	-	6	862_865	c.762_765delCAGA	c.(760-765)gacagafs	p.D254fs	UPF3B_uc004esa.2_Frame_Shift_Del_p.D254fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	254	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.R255K(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTCTGGAATTCTGTCTATCTTCT	0.328													-	118975084	TCTG	-	118975081	7	5	271	1	0	1	0	1	0	0	0	0	17003	1780	62	0	706	0	UPF3B	23	118975081	Frame_Shift_Del	DEL	TCTG	TCGA-76-6283-01A-11D-1845-08	10050822	118975081	36295479	109	19056											
DCAF12L1	139170	broad.mit.edu	37	X	125685564	125685564	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:125685564G>A	uc022cds.1	-	0	1028	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	DCAF12L1_uc004eul.3_Missense_Mutation_p.P343L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	343										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGAACACAGGGGCCGGATGTT	0.602													A	125685564	G	A	125685564	3	1	271	1	0	0	0	0	1	0	0	0	4264	1232	43	3	367	3	DCAF12L1	23	125685564	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	6710483	125685564	29584996	110	19057											
MST4	51765	broad.mit.edu	37	X	131207025	131207025	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:131207025C>T	uc004ewk.1	+	10	1431	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	MST4_uc004ewl.1_Missense_Mutation_p.A300V|MST4_uc011mux.1_Missense_Mutation_p.A399V|MST4_uc010nrj.1_Missense_Mutation_p.A353V|MST4_uc004ewm.1_Missense_Mutation_p.A315V	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	377					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AGGAATCAGGCGATTGAAGAA	0.358													T	131207025	C	T	131207025	3	4	271	1	0	0	0	0	1	0	0	0	9892	768	27	1	1168	1	MST4	23	131207025	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	5521461	131207025	24063535	111	19058											
LOC649330	649330	broad.mit.edu	37	1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:12908039G>A	uc010obf.2	-	1	330	c.104C>T	c.(103-105)gCg>gTg	p.A35V	LOC649330_uc009vno.2_Missense_Mutation_p.A35V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	35							nucleic acid binding|nucleotide binding										GGAAAAGATCGCCTCCACATC	0.473													A	12908039	G	A	12908039	3	1	272	1	0	0	0	0	1	0	0	0	8885	1087	38	1	781	1	LOC649330	1	12908039	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		12908039	236342582	1	19059											
CSMD2	114784	broad.mit.edu	37	1	34123559	34123559	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:34123559C>T	uc001bxm.1	-	26	4611	c.4434G>A	c.(4432-4434)ccG>ccA	p.P1478P	CSMD2_uc001bxn.1_Silent_p.P1438P|CSMD2_uc001bxo.1_Silent_p.P351P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1438	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCATGTTGGCGGGCTGGGCT	0.572													T	34123559	C	T	34123559	2	4	272	1	0	0	0	0	0	0	0	1	3945	755	27	1		1	CSMD2	1	34123559	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	21215520	34123559	215127062	2	19060											
TIE1	7075	broad.mit.edu	37	1	43774798	43774798	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:43774798T>A	uc001ciu.3	+	7	1361	c.1184T>A	c.(1183-1185)cTc>cAc	p.L395H	TIE1_uc010okd.2_Missense_Mutation_p.L395H|TIE1_uc010oke.2_Missense_Mutation_p.L350H|TIE1_uc009vwq.3_Missense_Mutation_p.L351H|TIE1_uc010okf.1_Missense_Mutation_p.L40H|TIE1_uc010okg.2_Missense_Mutation_p.L40H|TIE1_uc010okc.2_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	395	Ig-like C2-type 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCACTGTGCTCCTGGTCAGC	0.617													A	43774798	T	A	43774798	3	1	272	1	0	0	0	0	1	0	0	0	15890	1551	54	5	1214	5	TIE1	1	43774798	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08	9651239	43774798	205475823	3	19061											
C8A	731	broad.mit.edu	37	1	57341829	57341829	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:57341829C>T	uc001cyo.2	+	3	543	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	137	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGGCCATTGACGAAGACTGCA	0.532													T	57341829	C	T	57341829	2	4	272	1	0	0	0	0	0	0	0	1	2416	535	19	1		1	C8A	1	57341829	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	13567031	57341829	191908792	4	19062											
FLG	2312	broad.mit.edu	37	1	152275685	152275685	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:152275685C>A	uc001ezu.1	-	2	11713	c.11677G>T	c.(11677-11679)Gag>Tag	p.E3893*		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3893	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3892L(1)|p.R3892Q(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)			CTTGACTGCTCCCGAGAAGAT	0.537									Ichthyosis				A	152275685	C	A	152275685	4	1	272	1	0	0	0	0	0	1	0	0	5922	864	30	5	512	5	FLG	1	152275685	Nonsense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	94933856	152275685	96974936	5	19063											
CD1D	912	broad.mit.edu	37	1	158153826	158153826	+	Splice_Site	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:158153826G>A	uc001frr.3	+	6	1485	c.986_splice	c.e6+1	p.T329_splice	CD1D_uc009wss.3_Splice_Site_p.T236_splice	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	329					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAGGCAAACGTAAGTCTCCC	0.512													A	158153826	G	A	158153826	5	1	272	1	0	0	0	0	0	0	1	0	2977	1159	40	1	1005	1	CD1D	1	158153826	Splice_Site	SNP	G	TCGA-76-6285-01A-11D-1696-08	5878141	158153826	91096795	6	19064											
SH3BP5L	80851	broad.mit.edu	37	1	249106332	249106332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:249106332C>A	uc001iew.1	-	6	1501	c.949G>T	c.(949-951)Gag>Tag	p.E317*	SH3BP5L_uc010pzp.1_Nonsense_Mutation_p.E210*|SH3BP5L_uc001iev.1_Nonsense_Mutation_p.E198*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	317										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTGCCCTCCTCCAGCCCCGCA	0.731													A	249106332	C	A	249106332	4	1	272	1	0	0	0	0	0	1	0	0	14248	864	30	5	236	5	SH3BP5L	1	249106332	Nonsense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	90952506	249106332	144289	7	19065											
SP3	6670	broad.mit.edu	37	2	174820235	174820235	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:174820235A>G	uc002uig.3	-	3	1536	c.1005T>C	c.(1003-1005)tcT>tcC	p.S335S	SP3_uc002uie.3_Silent_p.S267S|SP3_uc002uif.3_Silent_p.S282S|SP3_uc010zel.2_Silent_p.S332S	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	335					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACTGTGATGAAGAGGATGTTG	0.378													G	174820235	A	G	174820235	2	3	272	1	0	0	0	0	0	0	0	1	14965	59	3	4		4	SP3	2	174820235	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08		174820235	68379138	8	19066											
GPR1	2825	broad.mit.edu	37	2	207041266	207041266	+	Nonsense_Mutation	SNP	G	G	A	rs34685097		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:207041266G>A	uc021vvl.1	-	0	706	c.706C>T	c.(706-708)Cga>Tga	p.R236*	GPR1_uc002vbl.4_Nonsense_Mutation_p.R236*|GPR1_uc010fue.3_Nonsense_Mutation_p.R236*|GPR1_uc010fuf.3_Nonsense_Mutation_p.R236*	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	236						integral to plasma membrane	G-protein coupled receptor activity			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)		AGGATGCTTCGCTTCTTCACC	0.438													A	207041266	G	A	207041266	4	1	272	1	0	0	0	0	0	1	0	0	6621	1095	38	1	365	1	GPR1	2	207041266	Nonsense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	32221031	207041266	36158107	9	19067											
COPS7B	64708	broad.mit.edu	37	2	232653347	232653347	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:232653347A>T	uc002vsh.1	+	1	170	c.67A>T	c.(67-69)Agt>Tgt	p.S23C	COPS7B_uc010fxy.1_Intron|COPS7B_uc002vsg.1_Missense_Mutation_p.S23C|COPS7B_uc002vsi.1_5'UTR|COPS7B_uc002vsj.1_5'Flank			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	23					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAAAGGTACCAGTGGCTCAGC	0.493													T	232653347	A	T	232653347	3	4	272	1	0	0	0	0	1	0	0	0	3739	188	7	5	69	5	COPS7B	2	232653347	Missense_Mutation	SNP	A	TCGA-76-6285-01A-11D-1696-08	25612081	232653347	10546026	10	19068											
CNTN6	27255	broad.mit.edu	37	3	1339608	1339608	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:1339608C>T	uc003boz.3	+	6	961	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	CNTN6_uc010hbo.2_Missense_Mutation_p.R227C|CNTN6_uc011asj.2_Missense_Mutation_p.R160C|CNTN6_uc003bpa.3_Missense_Mutation_p.R232C	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	232	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATTGAAGTGCGTTTTCCTGA	0.358													T	1339608	C	T	1339608	3	4	272	1	0	0	0	0	1	0	0	0	3645	768	27	1	716	1	CNTN6	3	1339608	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08		1339608	196682822	11	19069											
FBLN2	2199	broad.mit.edu	37	3	13613045	13613045	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:13613045C>A	uc011avc.2	+	1	1572	c.1190C>A	c.(1189-1191)gCc>gAc	p.A397D	FBLN2_uc011auz.2_Missense_Mutation_p.A423D|FBLN2_uc011avb.2_Missense_Mutation_p.A397D|FBLN2_uc011ava.2_Missense_Mutation_p.A397D	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	397	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCTGATGCAGCCTGGATCCCA	0.622													A	13613045	C	A	13613045	3	1	272	1	0	0	0	0	1	0	0	0	5699	739	26	5		5	FBLN2	3	13613045	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	12273437	13613045	184409385	12	19070											
TRH	7200	broad.mit.edu	37	3	129696024	129696024	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:129696024C>T	uc003enc.3	+	2	1255	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	232					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCTGGTCGGCGGGCAGCCTG	0.622													T	129696024	C	T	129696024	3	4	272	1	0	0	0	0	1	0	0	0	16475	759	27	1	700	1	TRH	3	129696024	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	116082979	129696024	68326406	13	19071											
HLTF	6596	broad.mit.edu	37	3	148768105	148768105	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:148768105C>T	uc003ewq.1	-	14	1749	c.1531G>A	c.(1531-1533)Ggt>Agt	p.G511S	HLTF_uc003ewr.1_Missense_Mutation_p.G511S|HLTF_uc003ews.1_Missense_Mutation_p.G510S|HLTF_uc010hve.1_Missense_Mutation_p.G510S	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	511	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CGATCAGGACCATAATAAACA	0.299													T	148768105	C	T	148768105	3	4	272	1	0	0	0	0	1	0	0	0	7215	594	21	3	1542	3	HLTF	3	148768105	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	19072081	148768105	49254325	14	19072											
TAS2R1	50834	broad.mit.edu	37	5	9629468	9629468	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:9629468G>A	uc003jem.1	-	0	996	c.677C>T	c.(676-678)gCg>gTg	p.A226V		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	226					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.A226S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGACAGCAACGCGCTGATGGG	0.498													A	9629468	G	A	9629468	3	1	272	1	0	0	0	0	1	0	0	0	15562	1087	38	1	226	1	TAS2R1	5	9629468	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		9629468	171285792	15	19073											
ITGA2	3673	broad.mit.edu	37	5	52344242	52344242	+	Missense_Mutation	SNP	C	C	T	rs148042733		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:52344242C>T	uc003joy.3	+	4	580	c.437C>T	c.(436-438)aCg>aTg	p.T146M	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.T70M|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	146					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TATTACACAACGGGTGTGTGT	0.438													T	52344242	C	T	52344242	3	4	272	1	0	0	0	0	1	0	0	0	7875	536	19	1	455	1	ITGA2	5	52344242	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	42714774	52344242	128571018	16	19074											
RGNEF	64283	broad.mit.edu	37	5	73148496	73148496	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:73148496C>T	uc010izf.3	+	13	1945	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L	RGNEF_uc011csq.2_Missense_Mutation_p.S590L|RGNEF_uc003kcy.1_3'UTR|RGNEF_uc021yam.1_Missense_Mutation_p.S590L|RGNEF_uc011csr.2_Missense_Mutation_p.S277L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	590					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TACAGCTTATCGGAGCCACCA	0.378													T	73148496	C	T	73148496	3	4	272	1	0	0	0	0	1	0	0	0	13283	893	31	2	1819	2	RGNEF	5	73148496	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	20804254	73148496	107766764	17	19075											
SLC27A6	28965	broad.mit.edu	37	5	128368954	128368954	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:128368954G>T	uc003kuy.3	+	10	2235	c.1839G>T	c.(1837-1839)atG>atT	p.M613I	SLC27A6_uc003kuz.3_Missense_Mutation_p.M613I	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	613					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATCAAATAATGTTAGGGGAAA	0.318													T	128368954	G	T	128368954	3	4	272	1	0	0	0	0	1	0	0	0	14530	1377	48	5	1877	5	SLC27A6	5	128368954	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	55220458	128368954	52546306	18	19076											
HLA-DOA	3111	broad.mit.edu	37	6	32975124	32975124	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:32975124G>A	uc003ocr.3	-	2	653	c.577C>T	c.(577-579)Cac>Tac	p.H193Y	HLA-DOA_uc010juj.3_Missense_Mutation_p.H163Y|HLA-DOA_uc010jui.3_Missense_Mutation_p.H193Y	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	193	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.H193Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGGCCCCAGTGCTCCACCTGG	0.597													A	32975124	G	A	32975124	3	1	272	1	0	0	0	0	1	0	0	0	7200	1319	46	3	187	3	HLA-DOA	6	32975124	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		32975124	138139943	19	19077											
VPS52	6293	broad.mit.edu	37	6	33238055	33238055	+	Silent	SNP	A	A	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:33238055A>C	uc003odm.1	-	1	306	c.96T>G	c.(94-96)ggT>ggG	p.G32G	VPS52_uc003odn.1_5'UTR|VPS52_uc003odo.1_5'UTR|VPS52_uc011dqy.1_5'UTR|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	32					protein transport	endosome membrane|Golgi apparatus		p.A31A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GCCCAGGACCACCCGCCTGGA	0.483													C	33238055	A	C	33238055	2	2	272	1	0	0	0	0	0	0	0	1	17211	146	6	5		5	VPS52	6	33238055	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08	262931	33238055	137877012	20	19078											
TBX18	9096	broad.mit.edu	37	6	85446874	85446874	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:85446874C>T	uc003pkl.1	-	7	1353	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	451					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GAGTCCTGGGCGGGGCAAAGG	0.612													T	85446874	C	T	85446874	2	4	272	1	0	0	0	0	0	0	0	1	15650	755	27	1		1	TBX18	6	85446874	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	52208819	85446874	85668193	21	19079											
TPD52L1	7164	broad.mit.edu	37	6	125541243	125541243	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:125541243G>A	uc003pzu.1	+	1	258	c.39G>A	c.(37-39)ccG>ccA	p.P13P	TPD52L1_uc003pzv.1_Silent_p.P13P|TPD52L1_uc003pzw.1_Silent_p.P13P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	13					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AGACTGAACCGTTGCAAGGAA	0.413													A	125541243	G	A	125541243	2	1	272	1	0	0	0	0	0	0	0	1	16395	1132	40	1		1	TPD52L1	6	125541243	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	40094369	125541243	45573824	22	19080											
SYNJ2	8871	broad.mit.edu	37	6	158454502	158454502	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:158454502C>T	uc003qqx.2	+	3	607	c.501C>T	c.(499-501)caC>caT	p.H167H	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.H167H|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Silent_p.H116H|SYNJ2_uc010kjo.1_Silent_p.H116H	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	167	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCTGTTGCACGTGCCCTTGA	0.572													T	158454502	C	T	158454502	2	4	272	1	0	0	0	0	0	0	0	1	15450	535	19	1		1	SYNJ2	6	158454502	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	32913259	158454502	12660565	23	19081											
SYNJ2	8871	broad.mit.edu	37	6	158483049	158483049	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:158483049C>T	uc003qqx.2	+	7	1086	c.980C>T	c.(979-981)gCg>gTg	p.A327V	SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Missense_Mutation_p.A327V|SYNJ2_uc003qqy.2_Missense_Mutation_p.A90V|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Missense_Mutation_p.A276V|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	327	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.A327V(2)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTTGCCACGCGGGCGACACG	0.562													T	158483049	C	T	158483049	3	4	272	1	0	0	0	0	1	0	0	0	15450	768	27	1	1010	1	SYNJ2	6	158483049	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	28547	158483049	12632018	24	19082											
AGPAT4	56895	broad.mit.edu	37	6	161587289	161587289	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:161587289C>T	uc003qtr.1	-	2	566	c.339G>A	c.(337-339)ggG>ggA	p.G113G	AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Silent_p.G113G|AGPAT4_uc011egd.1_Silent_p.G51G|AGPAT4_uc011ege.1_Intron	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	113					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCCCTAACAGCCCAAAGCGTT	0.507													T	161587289	C	T	161587289	2	4	272	1	0	0	0	0	0	0	0	1	389	726	26	3		3	AGPAT4	6	161587289	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	3104240	161587289	9527778	25	19083											
TYW1	55253	broad.mit.edu	37	7	66532361	66532361	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:66532361G>A	uc003tvn.3	+	9	1394	c.1245G>A	c.(1243-1245)gcG>gcA	p.A415A	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Silent_p.A29A	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	415					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGAGCTTGGCGTGTGCTAATA	0.458													A	66532361	G	A	66532361	2	1	272	1	0	0	0	0	0	0	0	1	16815	1132	40	1		1	TYW1	7	66532361	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08		66532361	92606302	26	19084											
RELN	5649	broad.mit.edu	37	7	103341383	103341383	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:103341383C>T	uc022ajr.1	-	8	1036	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_uc022ajq.1_Silent_p.A292A|RELN_uc010liz.3_Silent_p.A292A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	292					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			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)		GAATCCAGTCCGCAGAGTTAT	0.358													T	103341383	C	T	103341383	2	4	272	1	0	0	0	0	0	0	0	1	13220	639	23	2		2	RELN	7	103341383	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	36809022	103341383	55797280	27	19085											
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:123595133G>A	uc003vle.3	+	3	1476	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(3)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338													A	123595133	G	A	123595133	3	1	272	1	0	0	0	0	1	0	0	0	14986	1058	37	2	1043	2	SPAM1	7	123595133	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	20253750	123595133	35543530	28	19086											
CHRM2	1129	broad.mit.edu	37	7	136700700	136700700	+	Missense_Mutation	SNP	G	G	A	rs147228075		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:136700700G>A	uc003vtf.1	+	3	1711	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CHRM2_uc003vtg.1_Missense_Mutation_p.R363H|CHRM2_uc003vti.1_Missense_Mutation_p.R363H|CHRM2_uc003vtm.1_Missense_Mutation_p.R363H|CHRM2_uc003vtj.1_Missense_Mutation_p.R363H|CHRM2_uc003vtk.1_Missense_Mutation_p.R363H|CHRM2_uc003vtl.1_Missense_Mutation_p.R363H|CHRM2_uc003vtn.1_Missense_Mutation_p.R363H|CHRM2_uc003vto.1_Missense_Mutation_p.R363H|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.R363H	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	363					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.A362A(1)|p.A362T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATTGTAGCCCGCAAGATTGTG	0.468													A	136700700	G	A	136700700	3	1	272	1	0	0	0	0	1	0	0	0	3377	1087	38	1	1090	1	CHRM2	7	136700700	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	13105567	136700700	22437963	29	19087											
EIF3E	3646	broad.mit.edu	37	8	109240547	109240547	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr8:109240547T>C	uc003ymu.3	-	6	699	c.671A>G	c.(670-672)aAt>aGt	p.N224S	EIF3E_uc003ymt.3_Missense_Mutation_p.N175S	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	224					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TTTGGGGTGATTGAAGAAAAC	0.348													C	109240547	T	C	109240547	3	2	272	1	0	0	0	0	1	0	0	0	5015	1493	52	4	694	4	EIF3E	8	109240547	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08		109240547	37123475	30	19088											
BAI1	575	broad.mit.edu	37	8	143558906	143558906	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr8:143558906C>T	uc003ywm.3	+	4	1566	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	461	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TTGCCCTGTGCCCTGGTAGGT	0.657													T	143558906	C	T	143558906	2	4	272	1	0	0	0	0	0	0	0	1	1298	747	26	3		3	BAI1	8	143558906	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	34318359	143558906	2805116	31	19089											
METTL11A	28989	broad.mit.edu	37	9	132394975	132394975	+	Translation_Start_Site	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr9:132394975G>A	uc004byd.1	+	1					METTL11A_uc011mbs.1_5'UTR|METTL11A_uc010myw.1_Non-coding_Transcript	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.						chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						GCCGTGGTTGGTGACAGCATG	0.577													A	132394975	G	A	132394975	1	1	272	1	0	0	0	0	0	0	0	0	9495	1276	44	3		3	METTL11A	9	132394975	Translation_Start_Site	SNP	G	TCGA-76-6285-01A-11D-1696-08		132394975	8818456	32	19090											
HPSE2	60495	broad.mit.edu	37	10	100249842	100249842	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr10:100249842G>A	uc001kpn.2	-	9	1505	c.1432C>T	c.(1432-1434)Cta>Tta	p.L478L	HPSE2_uc009xwc.2_Silent_p.L478L|HPSE2_uc001kpo.2_Silent_p.L420L|HPSE2_uc009xwd.2_Silent_p.L366L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	478					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TAAATCCTTAGTTTGTCCCGG	0.577													A	100249842	G	A	100249842	2	1	272	1	0	0	0	0	0	0	0	1	7345	1020	36	3		3	HPSE2	10	100249842	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08		100249842	35284905	33	19091											
AP2A2	161	broad.mit.edu	37	11	926039	926039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:926039delG	uc001lst.2	+	0	231	c.18delG	c.(16-18)aagfs	p.K6fs	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Frame_Shift_Del_p.K6fs	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	6	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|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|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGTGTCCAAGGGGGACGGGA	0.771													-	926039	G	-	926039	7	5	272	1	0	1	0	1	0	0	0	0	740	991	35	0	20	0	AP2A2	11	926039	Frame_Shift_Del	DEL	G	TCGA-76-6285-01A-11D-1696-08		926039	134080477	34	19092											
MUC6	4588	broad.mit.edu	37	11	1025025	1025025	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:1025025G>A	uc001lsw.2	-	23	3095	c.3044C>T	c.(3043-3045)aCg>aTg	p.T1015M		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1015	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGCTGCGCGTCTCGAAGTC	0.637													A	1025025	G	A	1025025	3	1	272	1	0	0	0	0	1	0	0	0	9980	1145	40	1	4315	1	MUC6	11	1025025	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	98986	1025025	133981491	35	19093											
NAV2	89797	broad.mit.edu	37	11	19955730	19955730	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:19955730C>T	uc010rdm.2	+	7	2370	c.2009C>T	c.(2008-2010)aCc>aTc	p.T670I	NAV2_uc001mpp.3_Missense_Mutation_p.T583I|NAV2_uc001mpr.4_Missense_Mutation_p.T647I|NAV2_uc021qew.1_Missense_Mutation_p.T647I	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	670						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCACCCAGACCACAGGAAGC	0.582													T	19955730	C	T	19955730	3	4	272	1	0	0	0	0	1	0	0	0	10184	507	18	3	2045	3	NAV2	11	19955730	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	18930705	19955730	115050786	36	19094											
CHRDL2	25884	broad.mit.edu	37	11	74429781	74429781	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:74429781C>T	uc001ovh.3	-	1	432	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CHRDL2_uc001ovg.3_5'UTR|CHRDL2_uc001ovi.3_Missense_Mutation_p.R60H|CHRDL2_uc001ovk.1_Missense_Mutation_p.R60H	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	60	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCAGGTACAGCGCAGGCAGTA	0.597													T	74429781	C	T	74429781	3	4	272	1	0	0	0	0	1	0	0	0	3374	768	27	1	1220	1	CHRDL2	11	74429781	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	54474051	74429781	60576735	37	19095											
PIK3C2G	5288	broad.mit.edu	37	12	18658397	18658397	+	Splice_Site	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:18658397T>C	uc001rdt.3	+	23	3316	c.3200_splice	c.e23+2	p.R1067_splice	PIK3C2G_uc010sia.2_Splice_Site|PIK3C2G_uc010sib.2_Splice_Site_p.R1108_splice|PIK3C2G_uc010sic.2_Splice_Site_p.R886_splice	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1067	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATAAAAAGGTCAGTGCACAA	0.368													C	18658397	T	C	18658397	5	2	272	1	0	0	0	0	0	0	1	0	11911	1681	58	4	3288	4	PIK3C2G	12	18658397	Splice_Site	SNP	T	TCGA-76-6285-01A-11D-1696-08		18658397	115193498	38	19096											
KRT6B	3854	broad.mit.edu	37	12	52841112	52841112	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:52841112A>G	uc001sak.3	-	8	1605	c.1557T>C	c.(1555-1557)agT>agC	p.S519S		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	519	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CGCCAAGACCACTGCCATAGG	0.622													G	52841112	A	G	52841112	2	3	272	1	0	0	0	0	0	0	0	1	8481	156	6	4		4	KRT6B	12	52841112	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08	34182715	52841112	81010783	39	19097											
GPR182	11318	broad.mit.edu	37	12	57389618	57389618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:57389618G>T	uc021qzf.1	+	0	625	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	GPR182_uc001smk.3_Nonsense_Mutation_p.E209*	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GGCACCTTTTGAAACGTACAG	0.617													T	57389618	G	T	57389618	4	4	272	1	0	0	0	0	0	1	0	0	6677	1291	45	5	627	5	GPR182	12	57389618	Nonsense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	4548506	57389618	76462277	40	19098											
RASSF9	9182	broad.mit.edu	37	12	86199112	86199112	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:86199112C>G	uc001taf.1	-	1	1015	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	226					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTCTCCATCATTTTCTACT	0.398													G	86199112	C	G	86199112	3	3	272	1	0	0	0	0	1	0	0	0	13093	826	29	5	635	5	RASSF9	12	86199112	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	28809494	86199112	47652783	41	19099											
NR2C1	7181	broad.mit.edu	37	12	95445680	95445680	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:95445680C>A	uc001tdm.4	-	7	1079	c.823G>T	c.(823-825)Gtg>Ttg	p.V275L	NR2C1_uc010suu.1_Missense_Mutation_p.V275L|NR2C1_uc001tdn.4_Missense_Mutation_p.V275L|NR2C1_uc001tdo.4_Missense_Mutation_p.V275L	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	275					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GATGTAACCACATTGGCCAAT	0.303													A	95445680	C	A	95445680	3	1	272	1	0	0	0	0	1	0	0	0	10622	478	17	5	1094	5	NR2C1	12	95445680	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	9246568	95445680	38406215	42	19100											
NOS1	4842	broad.mit.edu	37	12	117710328	117710328	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:117710328G>A	uc001twn.2	-	9	2412	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	NOS1_uc021ren.1_Silent_p.Y231Y|NOS1_uc021reo.1_Silent_p.Y231Y|NOS1_uc001twm.2_Silent_p.Y567Y	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	567					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGGGGAGGCCGTACCACTTCA	0.612													A	117710328	G	A	117710328	2	1	272	1	0	0	0	0	0	0	0	1	10541	1140	40	1		1	NOS1	12	117710328	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	22264648	117710328	16141567	43	19101											
EML5	161436	broad.mit.edu	37	14	89130847	89130847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr14:89130847C>T	uc021ryf.1	-	22	3648	c.3399G>A	c.(3397-3399)tgG>tgA	p.W1133*	EML5_uc001xxf.3_5'UTR|EML5_uc021ryg.1_Nonsense_Mutation_p.W1133*|EML5_uc001xxh.1_Nonsense_Mutation_p.W272*	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1133						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCTAATATCCCAATCAATAT	0.308													T	89130847	C	T	89130847	4	4	272	1	0	0	0	0	0	1	0	0	5100	624	22	3	2618	3	EML5	14	89130847	Nonsense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08		89130847	18218693	44	19102											
HS3ST4	9951	broad.mit.edu	37	16	26147153	26147153	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr16:26147153C>T	uc002dof.3	+	1	1347	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	319					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTTCAAAAACCGGACCCTCGG	0.552													T	26147153	C	T	26147153	3	4	272	1	0	0	0	0	1	0	0	0	7367	643	23	2	961	2	HS3ST4	16	26147153	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08		26147153	64207600	45	19103											
ZNF48	197407	broad.mit.edu	37	16	30409831	30409831	+	Silent	SNP	G	G	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr16:30409831G>C	uc002dya.2	+	1	1636	c.1260G>C	c.(1258-1260)tcG>tcC	p.S420S	ZNF48_uc021tgi.1_Silent_p.S420S|ZNF48_uc021tgj.1_Silent_p.S297S|ZNF48_uc021tgk.1_Silent_p.S420S	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	420	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S420S(2)|p.S420L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCTCACACTCGGGTGAGCCTT	0.692													C	30409831	G	C	30409831	2	2	272	1	0	0	0	0	0	0	0	1	17931	1103	39	5		5	ZNF48	16	30409831	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	4262678	30409831	59944922	46	19104											
SHPK	23729	broad.mit.edu	37	17	3524530	3524530	+	Splice_Site	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:3524530C>T	uc002fvz.1	-	5	926	c.823_splice	c.e5+1	p.V275_splice		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	275					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAAAAACTTACCTGCATCTGT	0.522													T	3524530	C	T	3524530	5	4	272	1	0	0	0	0	0	0	1	0	14290	521	18	3	624	3	SHPK	17	3524530	Splice_Site	SNP	C	TCGA-76-6285-01A-11D-1696-08		3524530	77670680	47	19105											
ACACA	31	broad.mit.edu	37	17	35631152	35631152	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:35631152G>A	uc002hnm.3	-	8	1020	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	ACACA_uc002hnk.3_Missense_Mutation_p.R199C|ACACA_uc002hnl.3_Missense_Mutation_p.R219C|ACACA_uc002hnn.3_Missense_Mutation_p.R277C|ACACA_uc002hno.3_Missense_Mutation_p.R314C|ACACA_uc010cuz.3_Missense_Mutation_p.R277C|ACACA_uc002hnq.2_Missense_Mutation_p.R199C	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	277	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTAAGATACGTTTTGAAAAA	0.408													A	35631152	G	A	35631152	3	1	272	1	0	0	0	0	1	0	0	0	106	1145	40	1	6403	1	ACACA	17	35631152	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	32106622	35631152	45564058	48	19106											
AOC2	314	broad.mit.edu	37	17	40997352	40997352	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:40997352G>A	uc002ibu.3	+	0	744	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	AOC2_uc002ibt.3_Missense_Mutation_p.V237M	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	237					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTTCACCCCGTGGGGCTGGA	0.612													A	40997352	G	A	40997352	3	1	272	1	0	0	0	0	1	0	0	0	727	1145	40	1	711	1	AOC2	17	40997352	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	5366200	40997352	40197858	49	19107											
MYO5B	4645	broad.mit.edu	37	18	47463738	47463738	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr18:47463738A>G	uc002leb.2	-	14	2070	c.1782T>C	c.(1780-1782)gaT>gaC	p.D594D	MYO5B_uc021ukb.1_Silent_p.D593D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	594	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGTCCTTGTCATCATGAAACA	0.507													G	47463738	A	G	47463738	2	3	272	1	0	0	0	0	0	0	0	1	10079	214	8	4		4	MYO5B	18	47463738	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08		47463738	30613510	50	19108											
MIDN	90007	broad.mit.edu	37	19	1257154	1257154	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:1257154T>G	uc002lrp.3	+	7	1805	c.1290T>G	c.(1288-1290)agT>agG	p.S430R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	430						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GCGACAGCAGTAGCAGCGGGG	0.682													G	1257154	T	G	1257154	3	3	272	1	0	0	0	0	1	0	0	0	9579	1635	57	5	1316	5	MIDN	19	1257154	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08		1257154	57871829	51	19109											
ZNF492	57615	broad.mit.edu	37	19	22846866	22846866	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:22846866C>T	uc002nqw.3	+	3	639	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)				AACAGACATACGATAAGACAT	0.308													T	22846866	C	T	22846866	3	4	272	1	0	0	0	0	1	0	0	0	17940	536	19	1	405	1	ZNF492	19	22846866	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	21589712	22846866	36282117	52	19110											
LTBP4	8425	broad.mit.edu	37	19	41129963	41129963	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:41129963G>C	uc002ooh.1	+	29	4006	c.4006G>C	c.(4006-4008)Gtc>Ctc	p.V1336L	LTBP4_uc002oog.1_Missense_Mutation_p.V1299L|LTBP4_uc002ooi.1_Missense_Mutation_p.V1269L|LTBP4_uc002ooj.1_Missense_Mutation_p.V210L|LTBP4_uc002ook.1_Missense_Mutation_p.V471L|LTBP4_uc002ool.1_Missense_Mutation_p.V349L|LTBP4_uc010xvp.1_Missense_Mutation_p.V97L	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1337	EGF-like 14; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCCGCTGCGTCTCCAACGA	0.682													C	41129963	G	C	41129963	3	2	272	1	0	0	0	0	1	0	0	0	9076	1145	40	5	4415	5	LTBP4	19	41129963	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	18283097	41129963	17999020	53	19111											
TGM3	7053	broad.mit.edu	37	20	2298127	2298127	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:2298127G>A	uc002wfx.4	+	6	1076	c.979G>A	c.(979-981)Gta>Ata	p.V327I		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	327					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TAGTGATAGCGTATGGTAAGT	0.507													A	2298127	G	A	2298127	3	1	272	1	0	0	0	0	1	0	0	0	15828	1145	40	1	1005	1	TGM3	20	2298127	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		2298127	60727393	54	19112											
CRNKL1	51340	broad.mit.edu	37	20	20033098	20033098	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:20033098C>T	uc002wrs.3	-	1	404	c.372G>A	c.(370-372)ccG>ccA	p.P124P	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.P112P	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	124					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ATCTCGGAACCGGAAGCGGAA	0.592													T	20033098	C	T	20033098	2	4	272	1	0	0	0	0	0	0	0	1	3891	639	23	2		2	CRNKL1	20	20033098	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	17734971	20033098	42992422	55	19113											
CD93	22918	broad.mit.edu	37	20	23065129	23065129	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:23065129G>A	uc002wsv.3	-	0	1849	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	567					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGTGGCCACGGAGGAGTCCC	0.637													A	23065129	G	A	23065129	2	1	272	1	0	0	0	0	0	0	0	1	3047	1103	39	2		2	CD93	20	23065129	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	3032031	23065129	39960391	56	19114											
PREX1	57580	broad.mit.edu	37	20	47262489	47262489	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:47262489T>C	uc002xtw.1	-	25	3435	c.3412A>G	c.(3412-3414)Agg>Ggg	p.R1138G	PREX1_uc002xtv.1_Missense_Mutation_p.R435G	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1138					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			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)			TGGTCACTCCTGTCCATCTCG	0.617													C	47262489	T	C	47262489	3	2	272	1	0	0	0	0	1	0	0	0	12476	1579	55	4	1627	4	PREX1	20	47262489	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08	24197360	47262489	15763031	57	19115											
PRIC285	85441	broad.mit.edu	37	20	62197056	62197056	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:62197056G>A	uc002yfm.2	-	8	4011	c.3119C>T	c.(3118-3120)gCg>gTg	p.A1040V	PRIC285_uc002yfl.1_Missense_Mutation_p.A471V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1040	Ala-rich.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGCTCCTGCCGCACAGGCCCC	0.687													A	62197056	G	A	62197056	3	1	272	1	0	0	0	0	1	0	0	0	12485	1087	38	1	4878	1	PRIC285	20	62197056	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	14934567	62197056	828464	58	19116											
IL17RA	23765	broad.mit.edu	37	22	17586805	17586805	+	Missense_Mutation	SNP	G	G	A	rs138404135		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:17586805G>A	uc002zly.3	+	10	1137	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	336					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGTGGGCTCCGTCATCCTGCT	0.607													A	17586805	G	A	17586805	3	1	272	1	0	0	0	0	1	0	0	0	7639	1145	40	1	1048	1	IL17RA	22	17586805	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		17586805	33717761	59	19117											
MYO18B	84700	broad.mit.edu	37	22	26159232	26159232	+	Missense_Mutation	SNP	C	C	T	rs79294358	by1000genomes	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:26159232C>T	uc003abz.1	+	2	324	c.74C>T	c.(73-75)tCg>tTg	p.S25L	MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	25						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACCATCCTCGCCCCCTCCT	0.542													T	26159232	C	T	26159232	3	4	272	1	0	0	0	0	1	0	0	0	10066	893	31	2	80	2	MYO18B	22	26159232	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	8572427	26159232	25145334	60	19118											
FAM109B	150368	broad.mit.edu	37	22	42473575	42473575	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:42473575C>G	uc003bbz.3	+	2	465	c.278C>G	c.(277-279)gCc>gGc	p.A93G	FAM109B_uc021wqi.1_Missense_Mutation_p.A93G|C22orf32_uc003bca.3_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.	93	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						TGCTTTGATGCCCCTGGAGTG	0.682													G	42473575	C	G	42473575	3	3	272	1	0	0	0	0	1	0	0	0	5395	739	26	5	280	5	FAM109B	22	42473575	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	16314343	42473575	8830991	61	19119											
USP51	158880	broad.mit.edu	37	X	55514642	55514642	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chrX:55514642T>C	uc022bxu.1	-	0	731	c.731A>G	c.(730-732)aAc>aGc	p.N244S	USP51_uc004dun.2_Missense_Mutation_p.N244S	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	244					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTGGAGTCTGTTCATATGGGT	0.448													C	55514642	T	C	55514642	3	2	272	1	0	0	0	0	1	0	0	0	17080	1725	60	4	1408	4	USP51	23	55514642	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08		55514642	99755918	62	19120											
POF1B	79983	broad.mit.edu	37	X	84562214	84562214	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chrX:84562214G>A	uc004eer.2	-	10	1265	c.1119C>T	c.(1117-1119)taC>taT	p.Y373Y	POF1B_uc004ees.3_Silent_p.Y373Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	373							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGAGTTCTTCGTACTCTTTTA	0.333													A	84562214	G	A	84562214	2	1	272	1	0	0	0	0	0	0	0	1	12182	1140	40	1		1	POF1B	23	84562214	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	29047572	84562214	70708346	63	19121											
TTC4	7268	broad.mit.edu	37	1	55207175	55207175	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:55207175C>G	uc001cxv.3	+	9	1318	c.1186C>G	c.(1186-1188)Cag>Gag	p.Q396E	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.Q385E			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	385							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAAGGTGTACCAGATACGATG	0.517													G	55207175	C	G	55207175	3	3	273	1	0	0	0	0	1	0	0	0	16707	595	21	5	1191	5	TTC4	1	55207175	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08		55207175	194043446	1	19122											
RPE65	6121	broad.mit.edu	37	1	68905261	68905261	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:68905261C>A	uc001dei.1	-	6	762	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	236					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CGTAAGATGGCTTGAATCGGT	0.403													A	68905261	C	A	68905261	3	1	273	1	0	0	0	0	1	0	0	0	13545	796	28	5	925	5	RPE65	1	68905261	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	13698086	68905261	180345360	2	19123											
RPRD2	23248	broad.mit.edu	37	1	150437160	150437160	+	Silent	SNP	T	T	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:150437160T>A	uc009wlr.3	+	9	1770	c.1569T>A	c.(1567-1569)tcT>tcA	p.S523S	RPRD2_uc010pcc.1_Silent_p.S497S|RPRD2_uc001eup.4_Silent_p.S497S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	523	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATTCTGTCTGCACTTTCCA	0.502											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	150437160	T	A	150437160	2	1	273	1	0	0	0	0	0	0	0	1	13617	1567	55	5		5	RPRD2	1	150437160	Silent	SNP	T	TCGA-76-6286-01A-11D-1845-08	81531899	150437160	98813461	3	19124											
RYR2	6262	broad.mit.edu	37	1	237791219	237791219	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:237791219C>T	uc001hyl.1	+	40	6399	c.6279C>T	c.(6277-6279)gaC>gaT	p.D2093D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2093	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			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)			GGCAGTATGACGGCATTGGGG	0.552													T	237791219	C	T	237791219	2	4	273	1	0	0	0	0	0	0	0	1	13769	535	19	1		1	RYR2	1	237791219	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	87354059	237791219	11459402	4	19125											
TTC7A	57217	broad.mit.edu	37	2	47206005	47206005	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:47206005A>G	uc010fbb.3	+	4	1091	c.723A>G	c.(721-723)gaA>gaG	p.E241E	TTC7A_uc002rvm.3_Silent_p.E207E|TTC7A_uc002rvn.1_Silent_p.E122E|TTC7A_uc002rvo.3_Silent_p.E241E|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.E122E|TTC7A_uc002rvq.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	241							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACTTCCTGGAAGCTGCCCTCC	0.537													G	47206005	A	G	47206005	2	3	273	1	0	0	0	0	0	0	0	1	16709	69	3	4		4	TTC7A	2	47206005	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08		47206005	195993368	5	19126											
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809567	48809567	+	Missense_Mutation	SNP	C	C	T	rs147440328		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:48809567C>T	uc002rwp.2	+	1	1909	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.R599C	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	599					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.R599C(3)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAAATGAACCGCCGAGCATG	0.483													T	48809567	C	T	48809567	3	4	273	1	0	0	0	0	1	0	0	0	15316	652	23	2	1797	2	STON1-GTF2A1L	2	48809567	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	1603562	48809567	194389806	6	19127											
EDAR	10913	broad.mit.edu	37	2	109522815	109522815	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:109522815G>A	uc010fjn.3	-	10	1616	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	EDAR_uc010yws.2_Missense_Mutation_p.R357W|EDAR_uc002teq.4_Missense_Mutation_p.R325W	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	325					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TTTTTCCTCCGGCTTTGAATC	0.512													A	109522815	G	A	109522815	3	1	273	1	0	0	0	0	1	0	0	0	4905	1115	39	2	381	2	EDAR	2	109522815	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	60713248	109522815	133676558	7	19128											
CNTNAP5	129684	broad.mit.edu	37	2	125504853	125504853	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:125504853C>A	uc010flu.3	+	13	2489	c.2125C>A	c.(2125-2127)Cct>Act	p.P709T	CNTNAP5_uc002tno.3_Missense_Mutation_p.P708T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	708	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAAAGGCACCCTTACTGGGG	0.537													A	125504853	C	A	125504853	3	1	273	1	0	0	0	0	1	0	0	0	3650	623	22	5	2176	5	CNTNAP5	2	125504853	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	15982038	125504853	117694520	8	19129											
POTEE	445582	broad.mit.edu	37	2	131984443	131984443	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:131984443A>G	uc002tsn.2	+	3	910	c.858A>G	c.(856-858)caA>caG	p.Q286Q	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	286							ATP binding										AAAAACAGCAAGTCGTGAAAT	0.333													G	131984443	A	G	131984443	2	3	273	1	0	0	0	0	0	0	0	1	12264	69	3	4		4	POTEE	2	131984443	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	6479590	131984443	111214930	9	19130											
ZNF804A	91752	broad.mit.edu	37	2	185731110	185731110	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:185731110G>C	uc002uph.3	+	1	720	c.126G>C	c.(124-126)aaG>aaC	p.K42N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	42						intracellular	zinc ion binding	p.E41Q(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						ATGCTGAGAAGGAAAATACCA	0.363													C	185731110	G	C	185731110	3	2	273	1	0	0	0	0	1	0	0	0	18167	991	35	5	132	5	ZNF804A	2	185731110	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	53746667	185731110	57468263	10	19131											
MPP4	58538	broad.mit.edu	37	2	202552079	202552079	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:202552079G>A	uc002uyk.4	-	4	503	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	MPP4_uc010ftj.3_Missense_Mutation_p.R99C|MPP4_uc010zhq.2_Missense_Mutation_p.R99C|MPP4_uc010zht.2_Intron|MPP4_uc010zhr.2_Missense_Mutation_p.R99C|MPP4_uc010zhs.2_Missense_Mutation_p.R99C|MPP4_uc002uyj.4_Missense_Mutation_p.R99C|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.R99C|MPP4_uc002uym.1_Missense_Mutation_p.R112C|MPP4_uc002uyn.3_Missense_Mutation_p.R99C	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	99	L27 2.					cytoplasm	protein binding	p.R99C(1)		kidney(1)|lung(11)	12						GGGGTTTCACGTAATAACTCC	0.408													A	202552079	G	A	202552079	3	1	273	1	0	0	0	0	1	0	0	0	9736	1145	40	1	1690	1	MPP4	2	202552079	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	16820969	202552079	40647294	11	19132											
SHISA5	51246	broad.mit.edu	37	3	48520627	48520627	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:48520627C>T	uc003ctp.1	-	2	407	c.273G>A	c.(271-273)tcG>tcA	p.S91S	SHISA5_uc011bbl.2_5'UTR|SHISA5_uc003cto.1_Silent_p.S60S|SHISA5_uc003cts.1_Silent_p.S60S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	91					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						ACCTCAGCGCCGAGCCCAGCT	0.592													T	48520627	C	T	48520627	2	4	273	1	0	0	0	0	0	0	0	1	14283	639	23	2		2	SHISA5	3	48520627	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08		48520627	149501803	12	19133											
CACNA2D2	9254	broad.mit.edu	37	3	50513588	50513588	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:50513588G>A	uc003daq.3	-	1	287	c.249C>T	c.(247-249)ggC>ggT	p.G83G	CACNA2D2_uc003dap.3_Silent_p.G83G	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	83					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G83D(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCCGCATCACGCCGTCGACCT	0.632													A	50513588	G	A	50513588	2	1	273	1	0	0	0	0	0	0	0	1	2549	1074	38	1		1	CACNA2D2	3	50513588	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	1992961	50513588	147508842	13	19134											
PIK3CA	5290	broad.mit.edu	37	3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:178916726G>A	uc003fjk.3	+	1	270	c.113G>A	c.(112-114)cGt>cAt	p.R38H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	38	PI3K-ABD.		R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R38H(18)|p.R38L(3)|p.R38C(2)|p.R38S(1)|p.R38G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916726	G	A	178916726	3	1	273	1	0	0	0	0	1	0	0	0	11913	1145	40	1	115	1	PIK3CA	3	178916726	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	128403138	178916726	19105704	14	19135											
PF4V1	5197	broad.mit.edu	37	4	74719597	74719597	+	Silent	SNP	C	C	T	rs147144357		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:74719597C>T	uc003hhg.1	+	1	265	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_002620	NP_002611	P10720	PF4V_HUMAN	Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA.	66					immune response	extracellular region	chemokine activity|heparin binding	p.A66G(2)		endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGATCAAGGCCGGACCCCACT	0.612													T	74719597	C	T	74719597	2	4	273	1	0	0	0	0	0	0	0	1	11753	639	23	2		2	PF4V1	4	74719597	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08		74719597	116434679	15	19136											
TACR3	6870	broad.mit.edu	37	4	104579420	104579420	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:104579420C>T	uc003hxe.1	-	1	830	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	230						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCAGAGAGTACGGCCTGGCAT	0.393													T	104579420	C	T	104579420	3	4	273	1	0	0	0	0	1	0	0	0	15504	536	19	1	724	1	TACR3	4	104579420	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	29859823	104579420	86574856	16	19137											
ZNF827	152485	broad.mit.edu	37	4	146697085	146697085	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:146697085C>T	uc003ikn.3	-	9	2597	c.2549G>A	c.(2548-2550)tGc>tAc	p.C850Y	ZNF827_uc003ikm.3_Missense_Mutation_p.C850Y|ZNF827_uc010iox.3_Missense_Mutation_p.C500Y|ZNF827_uc003ikl.3_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCATAGGGGCACAAGTGGCA	0.498													T	146697085	C	T	146697085	3	4	273	1	0	0	0	0	1	0	0	0	18177	710	25	3	700	3	ZNF827	4	146697085	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	42117665	146697085	44457191	17	19138											
ODZ3	55714	broad.mit.edu	37	4	183651467	183651467	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:183651467C>T	uc003ivd.1	+	13	2775	c.2700C>T	c.(2698-2700)gaC>gaT	p.D900D	ODZ3_uc003ive.1_Silent_p.D306D	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	900					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCCGCCAGGACGGAATGTGAG	0.398													T	183651467	C	T	183651467	2	4	273	1	0	0	0	0	0	0	0	1	10836	535	19	1		1	ODZ3	4	183651467	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	36954382	183651467	7502809	18	19139											
FCHO2	115548	broad.mit.edu	37	5	72383422	72383422	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr5:72383422G>A	uc003kcl.3	+	24	2368	c.2252G>A	c.(2251-2253)gGg>gAg	p.G751E	FCHO2_uc011csl.2_Missense_Mutation_p.G718E|FCHO2_uc010izb.3_Missense_Mutation_p.G179E|FCHO2_uc011csn.2_Missense_Mutation_p.G179E	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	751										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTAGGTTCTGGGTCCCTCCGA	0.398													A	72383422	G	A	72383422	3	1	273	1	0	0	0	0	1	0	0	0	5788	1232	43	3	2350	3	FCHO2	5	72383422	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		72383422	108531838	19	19140											
GABRA6	2559	broad.mit.edu	37	5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr5:161119060G>A	uc003lyu.2	+	7	1278	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	314					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V314I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)			A	161119060	G	A	161119060	3	1	273	1	0	0	0	0	1	0	0	0	6165	1145	40	1	970	1	GABRA6	5	161119060	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	88735638	161119060	19796200	20	19141											
LRRC16A	55604	broad.mit.edu	37	6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:25450163C>T	uc011djw.2	+	5	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_uc010jpy.3_Missense_Mutation_p.R137C|LRRC16A_uc003nez.1_5'Flank	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	137					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468													T	25450163	C	T	25450163	3	4	273	1	0	0	0	0	1	0	0	0	8971	768	27	1	431	1	LRRC16A	6	25450163	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08		25450163	145664904	21	19142											
ABCF1	23	broad.mit.edu	37	6	30548286	30548286	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:30548286A>G	uc003nql.3	+	7	763	c.668A>G	c.(667-669)aAg>aGg	p.K223R	ABCF1_uc003nqk.2_Missense_Mutation_p.K224R|ABCF1_uc003nqm.3_Missense_Mutation_p.K223R	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	223	Glu-rich.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAGGCCAAGAAGGCAGAGCAG	0.453													G	30548286	A	G	30548286	3	3	273	1	0	0	0	0	1	0	0	0	65	72	3	4	698	4	ABCF1	6	30548286	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08	5098123	30548286	140566781	22	19143											
CYP21A2	1589	broad.mit.edu	37	6	31973481	31973483	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:31973481_31973483delCTG	uc021yvd.1	+	0	123_125	c.16_18delCTG	c.(16-18)ctgdel	p.L10del	CYP21A1P_uc021yve.1_5'UTR			P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	9					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						gctcctgggcctgctgctgctgc	0.66													-	31973483	CTG	-	31973481	7	5	273	1	0	1	0	1	0	0	0	0	4153	680	24	0	18	0	CYP21A2	6	31973481	In_Frame_Del	DEL	CTG	TCGA-76-6286-01A-11D-1845-08	1425195	31973481	139141586	23	19144											
ZDHHC4	55146	broad.mit.edu	37	7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:6628405G>A	uc003sqi.3	+	8	1257	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	300						integral to membrane	acyltransferase activity|zinc ion binding	p.R300H(4)|p.Q299*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577													A	6628405	G	A	6628405	3	1	273	1	0	0	0	0	1	0	0	0	17614	1145	40	1	921	1	ZDHHC4	7	6628405	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		6628405	152510258	24	19145											
PCLO	27445	broad.mit.edu	37	7	82583736	82583736	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:82583736G>T	uc003uhx.2	-	4	6822	c.6533C>A	c.(6532-6534)cCc>cAc	p.P2178H	PCLO_uc003uhv.2_Missense_Mutation_p.P2178H|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2109					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						TGTGTCAGAGGGTGGGACAGA	0.428													T	82583736	G	T	82583736	3	4	273	1	0	0	0	0	1	0	0	0	11583	1232	43	5	8996	5	PCLO	7	82583736	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	75955331	82583736	76554927	25	19146											
MUC17	140453	broad.mit.edu	37	7	100684314	100684314	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:100684314C>G	uc003uxp.1	+	2	9670	c.9617C>G	c.(9616-9618)aCt>aGt	p.T3206S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3206	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					TCATCTACAACTGCTGAAGGT	0.502													G	100684314	C	G	100684314	3	3	273	1	0	0	0	0	1	0	0	0	9974	565	20	5	9627	5	MUC17	7	100684314	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	18100578	100684314	58454349	26	19147											
EZH2	2146	broad.mit.edu	37	7	148529726	148529726	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:148529726C>G	uc003wfd.2	-	4	556	c.363_splice	c.e4+1	p.M121_splice	EZH2_uc022aov.1_Intron|EZH2_uc011kug.2_Splice_Site_p.M112_splice|EZH2_uc003wfb.2_Splice_Site_p.M121_splice|EZH2_uc003wfc.2_Intron|EZH2_uc011kuh.2_Splice_Site_p.M112_splice|EZH2_uc011kui.2_Splice_Site_p.M121_splice|EZH2_uc011kuj.2_Splice_Site	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	121	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTTACATACCATAAAATTCT	0.313			Mis		DLBCL								G	148529726	C	G	148529726	3	3	273	1	0	0	0	0	1	0	0	0	5334	608	21	5	1960	5	EZH2	7	148529726	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	47845412	148529726	10608937	27	19148											
TNFRSF10C	8794	broad.mit.edu	37	8	22972207	22972207	+	Silent	SNP	G	G	A	rs74480765	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:22972207G>A	uc003xcy.3	+	2	512	c.204G>A	c.(202-204)ccG>ccA	p.P68P	TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	68					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCTGTAACCCGTGCACAGAGG	0.468													A	22972207	G	A	22972207	2	1	273	1	0	0	0	0	0	0	0	1	16279	1132	40	1		1	TNFRSF10C	8	22972207	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		22972207	123391815	28	19149											
SLCO5A1	81796	broad.mit.edu	37	8	70617355	70617355	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:70617355A>G	uc003xyl.3	-	5	2240	c.1533T>C	c.(1531-1533)agT>agC	p.S511S	SLCO5A1_uc010lzb.3_Silent_p.S456S|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.S511S|SLCO5A1_uc010lzc.2_Silent_p.S456S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	511						integral to membrane|plasma membrane	transporter activity			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)			AAGACACACCACTGCAGATCA	0.408													G	70617355	A	G	70617355	2	3	273	1	0	0	0	0	0	0	0	1	14731	156	6	4		4	SLCO5A1	8	70617355	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	47645148	70617355	75746667	29	19150											
RIMS2	9699	broad.mit.edu	37	8	104897848	104897848	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:104897848C>T	uc003yls.3	+	1	596	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	RIMS2_uc003ylp.3_Missense_Mutation_p.R341C|RIMS2_uc003ylw.2_Missense_Mutation_p.R149C|RIMS2_uc003ylq.3_Missense_Mutation_p.R149C|RIMS2_uc003ylr.3_Missense_Mutation_p.R149C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	372	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			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)			GAATTTGGCCCGTTATCCAGT	0.473										HNSCC(12;0.0054)			T	104897848	C	T	104897848	3	4	273	1	0	0	0	0	1	0	0	0	13368	652	23	2	1161	2	RIMS2	8	104897848	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	34280493	104897848	41466174	30	19151											
CNTLN	54875	broad.mit.edu	37	9	17330744	17330744	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:17330744A>G	uc003zmz.2	+	8	1482	c.1456A>G	c.(1456-1458)Ata>Gta	p.I486V	CNTLN_uc003zmy.3_Missense_Mutation_p.I486V|CNTLN_uc010mio.3_Missense_Mutation_p.I165V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	486						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTCAGAAAACATATCTGCCAA	0.368													G	17330744	A	G	17330744	3	3	273	1	0	0	0	0	1	0	0	0	3639	217	8	4	1520	4	CNTLN	9	17330744	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08		17330744	123882687	31	19152											
FBXO10	26267	broad.mit.edu	37	9	37515999	37515999	+	Silent	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:37515999G>T	uc004aac.3	-	9	2726	c.2646C>A	c.(2644-2646)atC>atA	p.I882I	FBXO10_uc004aab.3_Silent_p.I866I|FBXO10_uc004aad.3_Silent_p.I416I	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	866						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTGGAAGATGATGTTTTCCT	0.522													T	37515999	G	T	37515999	2	4	273	1	0	0	0	0	0	0	0	1	5726	1280	45	5		5	FBXO10	9	37515999	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	20185255	37515999	103697432	32	19153											
TMC1	117531	broad.mit.edu	37	9	75435855	75435855	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:75435855G>A	uc004aiz.1	+	19	2401	c.1861G>A	c.(1861-1863)Gtt>Att	p.V621I	TMC1_uc010moz.1_Missense_Mutation_p.V579I|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.V475I|TMC1_uc010mpa.1_Missense_Mutation_p.V475I	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	621					sensory perception of sound	integral to membrane		p.N620S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GTGCTGCAATGTTCCTGAGGC	0.502													A	75435855	G	A	75435855	3	1	273	1	0	0	0	0	1	0	0	0	15981	1377	48	3	1923	3	TMC1	9	75435855	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	37919856	75435855	65777576	33	19154											
ASTN2	23245	broad.mit.edu	37	9	119770488	119770488	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:119770488A>G	uc004bjt.2	-	5	1422	c.1321T>C	c.(1321-1323)Tta>Cta	p.L441L	ASTN2_uc022bml.1_Silent_p.L141L|ASTN2_uc022bmm.1_Silent_p.L141L	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	492						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCGGGTTTAACCAGTCGGAG	0.512													G	119770488	A	G	119770488	2	3	273	1	0	0	0	0	0	0	0	1	1065	40	2	4		4	ASTN2	9	119770488	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	44334633	119770488	21442943	34	19155											
GPSM1	26086	broad.mit.edu	37	9	139250804	139250804	+	Silent	SNP	G	G	A	rs79557901	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:139250804G>A	uc004chd.2	+	12	1843	c.1623G>A	c.(1621-1623)tcG>tcA	p.S541S	GPSM1_uc011mdu.1_Silent_p.S32S|GPSM1_uc022bpn.1_Silent_p.S32S|GPSM1_uc004che.2_Silent_p.S32S	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	541					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCCAGCCCTCGATGACGGCCT	0.716													A	139250804	G	A	139250804	2	1	273	1	0	0	0	0	0	0	0	1	6734	1045	37	2		2	GPSM1	9	139250804	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	19480316	139250804	1962627	35	19156											
KIAA0913	23053	broad.mit.edu	37	10	75556970	75556970	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr10:75556970G>A	uc001jvj.3	+	16	3614	c.3359G>A	c.(3358-3360)cGt>cAt	p.R1120H	KIAA0913_uc001jve.3_Missense_Mutation_p.R1125H|KIAA0913_uc009xrl.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvf.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.R555H|KIAA0913_uc010qkr.2_Missense_Mutation_p.R543H|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1120							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CTTGGCAGTCGTGGAGGCTAT	0.577													A	75556970	G	A	75556970	3	1	273	1	0	0	0	0	1	0	0	0	8200	1145	40	1	3440	1	KIAA0913	10	75556970	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		75556970	59977777	36	19157											
PTEN	5728	broad.mit.edu	37	10	89720661	89720661	+	Missense_Mutation	SNP	T	T	C	rs142420551		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr10:89720661T>C	uc001kfb.3	+	7	1844	c.812T>C	c.(811-813)tTt>tCt	p.F271S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	271	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.F271S(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.M270I(1)|p.F271L(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACAAAATGTTTCACTTTTGG	0.274		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89720661	T	C	89720661	3	2	273	1	0	0	0	0	1	0	0	0	12738	1841	64	4	842	4	PTEN	10	89720661	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	14163691	89720661	45814086	37	19158											
MUC5B	727897	broad.mit.edu	37	11	1273709	1273709	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:1273709G>A	uc001lta.3	+	31	15059	c.15000G>A	c.(14998-15000)tcG>tcA	p.S5000S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5000					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCTGTCCTCGCCCTCCCCTG	0.682													A	1273709	G	A	1273709	2	1	273	1	0	0	0	0	0	0	0	1	9979	1074	38	1		1	MUC5B	11	1273709	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		1273709	133732807	38	19159											
OR5P2	120065	broad.mit.edu	37	11	7818411	7818411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:7818411G>A	uc001mfp.1	-	0	79	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L26F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGATGACTCGAAGGATTGGA	0.428													A	7818411	G	A	7818411	4	1	273	1	0	0	0	0	0	1	0	0	11178	1066	37	2	893	2	OR5P2	11	7818411	Nonsense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	6544702	7818411	127188105	39	19160											
OR5W2	390148	broad.mit.edu	37	11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:55681277C>T	uc010rir.2	-	0	782	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(2)|p.R261Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAACTTGGCCGGAAATACAT	0.443													T	55681277	C	T	55681277	3	4	273	1	0	0	0	0	1	0	0	0	11185	652	23	2	152	2	OR5W2	11	55681277	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	47862866	55681277	79325239	40	19161											
MAP3K11	4296	broad.mit.edu	37	11	65375157	65375157	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:65375157C>T	uc001oew.3	-	3	1693	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.K143K|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	400					activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGATCTCGCGCTTCCAGCCTT	0.617													T	65375157	C	T	65375157	2	4	273	1	0	0	0	0	0	0	0	1	9245	796	28	3		3	MAP3K11	11	65375157	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	9693880	65375157	69631359	41	19162											
HEPHL1	341208	broad.mit.edu	37	11	93808410	93808410	+	Silent	SNP	C	C	T	rs61746203		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:93808410C>T	uc001pep.2	+	8	1732	c.1575C>T	c.(1573-1575)agC>agT	p.S525S	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	525	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCCTGAGAGCGTAAGCCCAA	0.468													T	93808410	C	T	93808410	2	4	273	1	0	0	0	0	0	0	0	1	7055	767	27	1		1	HEPHL1	11	93808410	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	28433253	93808410	41198106	42	19163											
PDZD3	79849	broad.mit.edu	37	11	119059542	119059542	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:119059542G>T	uc001pwb.3	+	6	1975	c.1451G>T	c.(1450-1452)tGt>tTt	p.C484F	PDZD3_uc001pvz.3_Missense_Mutation_p.C418F|PDZD3_uc010rzd.2_Missense_Mutation_p.C405F|PDZD3_uc001pvy.3_Missense_Mutation_p.C404F|PDZD3_uc001pwa.3_Missense_Mutation_p.C114F			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	484	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CGACTCAGTTGTGTGGCCAGT	0.572													T	119059542	G	T	119059542	3	4	273	1	0	0	0	0	1	0	0	0	11702	1377	48	5	1287	5	PDZD3	11	119059542	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	25251132	119059542	15946974	43	19164											
CSDA	8531	broad.mit.edu	37	12	10854621	10854621	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:10854621G>A	uc001qyt.3	-	7	1234	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	CSDA_uc001qyu.3_Missense_Mutation_p.R262C	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	331					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					TTGTAGGGACGCCGGTATCCA	0.567													A	10854621	G	A	10854621	3	1	273	1	0	0	0	0	1	0	0	0	3927	1087	38	1	135	1	CSDA	12	10854621	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		10854621	122997274	44	19165											
KRT86	3892	broad.mit.edu	37	12	52699175	52699175	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:52699175G>A	uc010snq.2	+	5	1020	c.887G>A	c.(886-888)tGg>tAg	p.W296*	KRT86_uc009zmg.3_Nonsense_Mutation_p.W296*|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Nonsense_Mutation_p.W296*	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	296	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGAGTCCTGGTACCGCAGC	0.542													A	52699175	G	A	52699175	4	1	273	1	0	0	0	0	0	1	0	0	8500	1357	47	3	905	3	KRT86	12	52699175	Nonsense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	41844554	52699175	81152720	45	19166											
PTPRB	5787	broad.mit.edu	37	12	70990028	70990028	+	Silent	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:70990028A>G	uc001swb.4	-	2	435	c.405T>C	c.(403-405)tcT>tcC	p.S135S	PTPRB_uc010sto.2_Silent_p.S135S|PTPRB_uc010stp.2_Silent_p.S135S|PTPRB_uc001swc.4_Silent_p.S353S|PTPRB_uc001swa.4_Silent_p.S353S|PTPRB_uc001swd.4_Silent_p.S352S|PTPRB_uc009zrr.2_Silent_p.S232S|PTPRB_uc001swe.3_Silent_p.S353S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	135	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTTTCCGGAAGAAGGAGTCC	0.408													G	70990028	A	G	70990028	2	3	273	1	0	0	0	0	0	0	0	1	12796	59	3	4		4	PTPRB	12	70990028	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	18290853	70990028	62861867	46	19167											
RIMBP2	23504	broad.mit.edu	37	12	130907060	130907060	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:130907060C>T	uc001uil.2	-	12	2624	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	803						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAAACCTCCGGCCCATGTG	0.567													T	130907060	C	T	130907060	3	4	273	1	0	0	0	0	1	0	0	0	13363	652	23	2	778	2	RIMBP2	12	130907060	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	59917032	130907060	2944835	47	19168											
SACS	26278	broad.mit.edu	37	13	23913301	23913301	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:23913301T>C	uc001uon.2	-	9	5303	c.4714A>G	c.(4714-4716)Att>Gtt	p.I1572V	SACS_uc001uoo.2_Missense_Mutation_p.I1425V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1572					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGACTCATAATGATGGGAATG	0.338													C	23913301	T	C	23913301	3	2	273	1	0	0	0	0	1	0	0	0	13804	1464	51	4	9029	4	SACS	13	23913301	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08		23913301	91256577	48	19169											
RB1	5925	broad.mit.edu	37	13	48941694	48941694	+	Nonsense_Mutation	SNP	T	T	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:48941694T>G	uc001vcb.3	+	9	1170	c.1004T>G	c.(1003-1005)tTa>tGa	p.L335*	RB1_uc010act.1_Nonsense_Mutation_p.L36*	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	335					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATGCAAGATTATTTTTGGAT	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			G	48941694	T	G	48941694	4	3	273	1	0	0	0	0	0	1	0	0	13098	1764	61	5	1042	5	RB1	13	48941694	Nonsense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	25028393	48941694	66228184	49	19170											
FARP1	10160	broad.mit.edu	37	13	98865588	98865588	+	Missense_Mutation	SNP	C	C	T	rs113972742		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:98865588C>T	uc001vnh.3	+	1	331	c.92C>T	c.(91-93)cCg>cTg	p.P31L	FARP1_uc001vni.3_Missense_Mutation_p.P31L|FARP1_uc001vnj.3_Missense_Mutation_p.P31L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	31					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGACAGAAGCCGCCCCCAACA	0.537													T	98865588	C	T	98865588	3	4	273	1	0	0	0	0	1	0	0	0	5676	652	23	2	94	2	FARP1	13	98865588	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	49923894	98865588	16304290	50	19171											
OR11H12	440153	broad.mit.edu	37	14	19378054	19378054	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr14:19378054A>C	uc010tkp.2	+	0	461	c.461A>C	c.(460-462)cAt>cCt	p.H154P		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478													C	19378054	A	C	19378054	3	2	273	1	0	0	0	0	1	0	0	0	10927	217	8	5	463	5	OR11H12	14	19378054	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08		19378054	87971486	51	19172											
DYNC1H1	1778	broad.mit.edu	37	14	102467294	102467294	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr14:102467294C>T	uc001yks.2	+	18	4242	c.4078C>T	c.(4078-4080)Cga>Tga	p.R1360*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1360	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCGACAGCTTCGACAAAATTT	0.443													T	102467294	C	T	102467294	4	4	273	1	0	0	0	0	0	1	0	0	4841	876	31	2	4152	2	DYNC1H1	14	102467294	Nonsense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	83089240	102467294	4882246	52	19173											
EHD4	30844	broad.mit.edu	37	15	42193062	42193062	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:42193062G>A	uc001zot.3	-	5	1470	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	469	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592													A	42193062	G	A	42193062	2	1	273	1	0	0	0	0	0	0	0	1	4980	1136	40	1		1	EHD4	15	42193062	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		42193062	60338330	53	19174											
KIF7	374654	broad.mit.edu	37	15	90188330	90188330	+	Missense_Mutation	SNP	C	C	T	rs149078926	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:90188330C>T	uc002bof.2	-	9	2182	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	KIF7_uc010upw.1_Missense_Mutation_p.R188Q	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	702					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGGGCCAGCCGCCACTCTGA	0.652													T	90188330	C	T	90188330	3	4	273	1	0	0	0	0	1	0	0	0	8309	652	23	2	1966	2	KIF7	15	90188330	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	47995268	90188330	12343062	54	19175											
NXN	64359	broad.mit.edu	37	17	708351	708351	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:708351G>A	uc002fsa.3	-	5	1037	c.957C>T	c.(955-957)aaC>aaT	p.N319N	NXN_uc010vqd.2_Intron|NXN_uc010vqe.2_Silent_p.N211N	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	319	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GCTGCGCGGCGTTGGAGTCGG	0.692													A	708351	G	A	708351	2	1	273	1	0	0	0	0	0	0	0	1	10787	1136	40	1		1	NXN	17	708351	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		708351	80486859	55	19176											
TP53	7157	broad.mit.edu	37	17	7572986	7572986	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:7572986G>T	uc002gim.2	-	10	1317	c.1123C>A	c.(1123-1125)Cag>Aag	p.Q375K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.Q243K|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.Q375K	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	375	Basic (repression of DNA-binding).|Interaction with CARM1.				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.0?(8)|p.Q375*(2)|p.?(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)		GAGGTAGACTGACCCTTTTTG	0.527		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)			T	7572986	G	T	7572986	3	4	273	1	0	0	0	0	1	0	0	0	16378	1299	45	5	62	5	TP53	17	7572986	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	6864635	7572986	73622224	56	19177											
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:7577580T>C	uc002gim.2	-	6	895	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(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)		CATGTAGTTGTAGTGGATGGT	0.572		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)			C	7577580	T	C	7577580	3	2	273	1	0	0	0	0	1	0	0	0	16378	1638	57	4	589	4	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	4594	7577580	73617630	57	19178											
GRB7	2886	broad.mit.edu	37	17	37901165	37901165	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:37901165G>C	uc002hsr.3	+	8	1214	c.939G>C	c.(937-939)aaG>aaC	p.K313N	GRB7_uc002hss.3_Missense_Mutation_p.K313N|GRB7_uc021twu.1_Missense_Mutation_p.K336N|GRB7_uc010cwc.3_Missense_Mutation_p.K313N|GRB7_uc002hst.3_Missense_Mutation_p.K313N	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	313	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			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)			ATGGCCACAAGGGGCTTCGGA	0.582													C	37901165	G	C	37901165	3	2	273	1	0	0	0	0	1	0	0	0	6759	991	35	5	969	5	GRB7	17	37901165	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	30323585	37901165	43294045	58	19179											
KRT25	147183	broad.mit.edu	37	17	38910206	38910206	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:38910206A>G	uc002hve.3	-	2	636	c.575T>C	c.(574-576)gTt>gCt	p.V192A		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	192	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTCATCCAAAACTCTTCGTAA	0.403													G	38910206	A	G	38910206	3	3	273	1	0	0	0	0	1	0	0	0	8462	43	2	4	801	4	KRT25	17	38910206	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08	1009041	38910206	42285004	59	19180											
INTS2	57508	broad.mit.edu	37	17	59946709	59946709	+	Silent	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:59946709G>A	uc002izn.3	-	21	3163	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	INTS2_uc002izm.3_Silent_p.V1021V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	1029					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.V1029V(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAATACCTGCGACCGTCAGAG	0.373													A	59946709	G	A	59946709	2	1	273	1	0	0	0	0	0	0	0	1	7778	1045	37	2		2	INTS2	17	59946709	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	21036503	59946709	21248501	60	19181											
MRPS7	51081	broad.mit.edu	37	17	73258939	73258939	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:73258939C>T	uc002jnm.4	+	2	563	c.330C>T	c.(328-330)ctC>ctT	p.L110L	GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.	110					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCAGATCCCTCATGATTCAGG	0.448													T	73258939	C	T	73258939	2	4	273	1	0	0	0	0	0	0	0	1	9848	813	29	3		3	MRPS7	17	73258939	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	13312230	73258939	7936271	61	19182											
GAMT	2593	broad.mit.edu	37	19	1397419	1397419	+	Missense_Mutation	SNP	G	G	A	rs139890971		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:1397419G>A	uc002lsj.3	-	5	727	c.650C>T	c.(649-651)cCg>cTg	p.P217L	AK126693_uc002lsi.1_5'Flank	NM_000156	NP_000147	Q14353	GAMT_HUMAN	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	217					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|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)	Creatine(DB00148)	GCAGTCGGCCGGTGGGACCAG	0.701													A	1397419	G	A	1397419	3	1	273	1	0	0	0	0	1	0	0	0	6231	1116	39	2	64	2	GAMT	19	1397419	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		1397419	57731564	62	19183											
TJP3	27134	broad.mit.edu	37	19	3738562	3738562	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:3738562G>A	uc010xhv.2	+	10	1393	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	TJP3_uc010xhs.2_Missense_Mutation_p.V432M|TJP3_uc010xht.2_Missense_Mutation_p.V396M|TJP3_uc010xhu.2_Missense_Mutation_p.V441M|TJP3_uc010xhw.2_Missense_Mutation_p.V451M	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	446						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGAATGACGTGCCATTCCA	0.577													A	3738562	G	A	3738562	3	1	273	1	0	0	0	0	1	0	0	0	15928	1145	40	1	1435	1	TJP3	19	3738562	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	2341143	3738562	55390421	63	19184											
PNPLA6	10908	broad.mit.edu	37	19	7607932	7607932	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:7607932G>A	uc010xjq.2	+	14	1837	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	PNPLA6_uc002mgq.2_Missense_Mutation_p.A485T|PNPLA6_uc010xjp.2_Intron|PNPLA6_uc002mgr.2_Missense_Mutation_p.A485T|PNPLA6_uc002mgs.3_Missense_Mutation_p.A524T	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	524					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTGCACCACGCCAAAGCTGG	0.627													A	7607932	G	A	7607932	3	1	273	1	0	0	0	0	1	0	0	0	12169	1087	38	1	1651	1	PNPLA6	19	7607932	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	3869370	7607932	51521051	64	19185											
SLC1A6	6511	broad.mit.edu	37	19	15067342	15067342	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:15067342G>C	uc002naa.1	-	5	1122	c.1115C>G	c.(1114-1116)cCc>cGc	p.P372R	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.P308R	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	372					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCCAATGAAGGGGAAGGGGTT	0.592													C	15067342	G	C	15067342	3	2	273	1	0	0	0	0	1	0	0	0	14436	1232	43	5	595	5	SLC1A6	19	15067342	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	7459410	15067342	44061641	65	19186											
RASAL3	64926	broad.mit.edu	37	19	15574925	15574925	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:15574925C>T	uc002nbe.2	-	1	331	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	82					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAGTCGAAGGCGACTGGTCCG	0.672													T	15574925	C	T	15574925	3	4	273	1	0	0	0	0	1	0	0	0	13065	768	27	1	2858	1	RASAL3	19	15574925	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	507583	15574925	43554058	66	19187											
F2RL3	9002	broad.mit.edu	37	19	17000842	17000842	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:17000842C>T	uc002nfa.3	+	1	743	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	190					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTGCGTGGCCGGCGCCTGGC	0.711													T	17000842	C	T	17000842	3	4	273	1	0	0	0	0	1	0	0	0	5346	643	23	2	574	2	F2RL3	19	17000842	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	1425917	17000842	42128141	67	19188											
RASGRP4	115727	broad.mit.edu	37	19	38909096	38909096	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:38909096C>G	uc021uub.1	-	6	986	c.772G>C	c.(772-774)Gtg>Ctg	p.V258L	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.V258L|RASGRP4_uc021uua.1_Missense_Mutation_p.V224L|RASGRP4_uc021uuc.1_Missense_Mutation_p.V258L|RASGRP4_uc021uud.1_Intron|RASGRP4_uc021uue.1_Intron|RASGRP4_uc021uuf.1_Missense_Mutation_p.V244L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	258	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			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)			CGGCTCAGCACCATCACCTGC	0.662													G	38909096	C	G	38909096	3	3	273	1	0	0	0	0	1	0	0	0	13077	507	18	5	1293	5	RASGRP4	19	38909096	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	21908254	38909096	20219887	68	19189											
SIGLEC10	89790	broad.mit.edu	37	19	51919569	51919569	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:51919569G>A	uc002pwo.3	-	3	971	c.749C>T	c.(748-750)aCg>aTg	p.T250M	SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	250					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			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)		AGTACCTGGCGTGTTGTCACG	0.547													A	51919569	G	A	51919569	3	1	273	1	0	0	0	0	1	0	0	0	14306	1145	40	1	1376	1	SIGLEC10	19	51919569	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	13010473	51919569	7209414	69	19190											
ZSCAN1	284312	broad.mit.edu	37	19	58564824	58564824	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:58564824C>T	uc002qrc.1	+	5	879	c.632C>T	c.(631-633)cCg>cTg	p.P211L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	211					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCTCTGAAGCCGAGTATCTGG	0.652													T	58564824	C	T	58564824	3	4	273	1	0	0	0	0	1	0	0	0	18223	652	23	2	646	2	ZSCAN1	19	58564824	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	6645255	58564824	564159	70	19191											
ZNF831	128611	broad.mit.edu	37	20	57768855	57768855	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:57768855A>C	uc002yan.3	+	0	2781	c.2781A>C	c.(2779-2781)agA>agC	p.R927S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	927						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)					AGGCTCCTAGAGTGCTCTCTG	0.632													C	57768855	A	C	57768855	3	2	273	1	0	0	0	0	1	0	0	0	18182	301	11	5	2783	5	ZNF831	20	57768855	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08		57768855	5256665	71	19192											
CDH4	1002	broad.mit.edu	37	20	60503346	60503346	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:60503346G>A	uc002ybn.2	+	11	1958	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	CDH4_uc002ybr.2_Missense_Mutation_p.E587K|CDH4_uc002ybp.2_Missense_Mutation_p.E550K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	624	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.C623C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAGATCTGCGAGAAGCCCAA	0.642													A	60503346	G	A	60503346	3	1	273	1	0	0	0	0	1	0	0	0	3112	1059	37	2	1916	2	CDH4	20	60503346	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	2734491	60503346	2522174	72	19193											
HRH3	11255	broad.mit.edu	37	20	60793588	60793588	+	Missense_Mutation	SNP	C	C	T	rs142903103		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:60793588C>T	uc002yci.3	-	1	673	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	HRH3_uc002ycf.2_Missense_Mutation_p.V126M|HRH3_uc002ych.3_Missense_Mutation_p.V126M|HRH3_uc002ycg.3_Missense_Mutation_p.V126M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	126					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CTGATGAGCACGATGTTGAAG	0.647													T	60793588	C	T	60793588	3	4	273	1	0	0	0	0	1	0	0	0	7357	536	19	1	969	1	HRH3	20	60793588	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	290242	60793588	2231932	73	19194											
KRTAP13-1	140258	broad.mit.edu	37	21	31768677	31768677	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr21:31768677C>T	uc002yoa.3	+	0	286	c.273C>T	c.(271-273)ccC>ccT	p.P91P		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	91	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTGCAGTCCCTGCCAGACAA	0.612													T	31768677	C	T	31768677	2	4	273	1	0	0	0	0	0	0	0	1	8522	668	24	3		3	KRTAP13-1	21	31768677	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08		31768677	16361218	74	19195											
FAM3B	54097	broad.mit.edu	37	21	42720528	42720528	+	Silent	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr21:42720528C>T	uc002yzb.1	+	6	641	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Silent_p.N117N	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	165					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GACTGAATAACGATGCCAAGA	0.463													T	42720528	C	T	42720528	2	4	273	1	0	0	0	0	0	0	0	1	5557	535	19	1		1	FAM3B	21	42720528	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	10951851	42720528	5409367	75	19196											
MSL3	10943	broad.mit.edu	37	X	11790368	11790371	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:11790368_11790371delTTGT	uc004cuw.3	+	10	1480_1483	c.1375_1378delTTGT	c.(1375-1380)ttgtttfs	p.L459fs	MSL3_uc011mig.2_Frame_Shift_Del_p.L310fs|MSL3_uc011mih.2_Frame_Shift_Del_p.L447fs|MSL3_uc004cuy.3_Frame_Shift_Del_p.L293fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	459					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTGCTGCGATTGTTTGGTAAGAA	0.451													-	11790371	TTGT	-	11790368	7	5	273	1	0	1	0	1	0	0	0	0	9879	1490	52	0	1497	0	MSL3	23	11790368	Frame_Shift_Del	DEL	TTGT	TCGA-76-6286-01A-11D-1845-08		11790368	143480192	76	19197											
KCND1	3750	broad.mit.edu	37	X	48819889	48819889	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:48819889C>T	uc004dlx.1	-	5	3470	c.1897G>A	c.(1897-1899)Ggt>Agt	p.G633S	KCND1_uc004dlw.1_Missense_Mutation_p.G256S	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	633						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CAAGGGGTACCCAGGCTGGAG	0.612													T	48819889	C	T	48819889	3	4	273	1	0	0	0	0	1	0	0	0	8018	623	22	3	50	3	KCND1	23	48819889	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	37029521	48819889	106450671	77	19198											
VSIG4	11326	broad.mit.edu	37	X	65242302	65242302	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:65242302T>C	uc004dwh.2	-	7	1130	c.1003A>G	c.(1003-1005)Agg>Ggg	p.R335G	VSIG4_uc004dwi.2_Missense_Mutation_p.R241G|VSIG4_uc004dwj.3_3'UTR|VSIG4_uc011moy.2_3'UTR	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	335					complement activation, alternative pathway	integral to membrane	protein binding			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						ATGGCCACCCTCATGGTTTCT	0.567													C	65242302	T	C	65242302	3	2	273	1	0	0	0	0	1	0	0	0	17222	1550	54	4	200	4	VSIG4	23	65242302	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	16422413	65242302	90028258	78	19199											
USP26	83844	broad.mit.edu	37	X	132161219	132161219	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:132161219G>A	uc011mvf.2	-	0	1082	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	USP26_uc010nrm.1_Missense_Mutation_p.R344W	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	344					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTAGCCGTGCCAAGCAC	0.378													A	132161219	G	A	132161219	3	1	273	1	0	0	0	0	1	0	0	0	17054	1144	40	1	1714	1	USP26	23	132161219	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	66918917	132161219	23109341	79	19200											
AFF2	2334	broad.mit.edu	37	X	147924922	147924922	+	Silent	SNP	C	C	A			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:147924922C>A	uc004fcp.3	+	6	1706	c.1227C>A	c.(1225-1227)acC>acA	p.T409T	AFF2_uc004fco.3_Silent_p.T376T|AFF2_uc004fcq.3_Silent_p.T405T|AFF2_uc004fcr.3_Silent_p.T376T|AFF2_uc011mxb.2_Silent_p.T380T|AFF2_uc004fcs.3_Silent_p.T376T|AFF2_uc011mxc.2_Silent_p.T50T	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	409					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACCCAACCACCAGAGCTT	0.378													A	147924922	C	A	147924922	2	1	273	1	0	0	0	0	0	0	0	1	357	581	21	5		5	AFF2	23	147924922	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	15763703	147924922	7345638	80	19201											
FLNA	2316	broad.mit.edu	37	X	153588445	153588445	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:153588445C>T	uc004fkk.2	-	21	3967	c.3718G>A	c.(3718-3720)Gtg>Atg	p.V1240M	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1240					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGGCACGGGCTGGCCG	0.627													T	153588445	C	T	153588445	3	4	273	1	0	0	0	0	1	0	0	0	5933	536	19	1	4333	1	FLNA	23	153588445	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	5663523	153588445	1682115	81	19202											
CDA	978	broad.mit.edu	37	1	20944980	20944980	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:20944980G>A	uc001bdk.3	+	3	539	c.360G>A	c.(358-360)ccG>ccA	p.P120P	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	120					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TGACCAAGCCGGATGGTACGT	0.587													A	20944980	G	A	20944980	2	1	274	1	0	0	0	0	0	0	0	1	3052	1103	39	2		2	CDA	1	20944980	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08		20944980	228305641	1	19203											
GRIK3	2899	broad.mit.edu	37	1	37356675	37356675	+	Silent	SNP	G	G	A	rs150456185		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:37356675G>A	uc001caz.2	-	1	273	c.138C>T	c.(136-138)gaC>gaT	p.D46D	GRIK3_uc001cba.1_Silent_p.D46D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	46					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGTTGGGGCCGTCCGCATACT	0.507													A	37356675	G	A	37356675	2	1	274	1	0	0	0	0	0	0	0	1	6775	1136	40	1		1	GRIK3	1	37356675	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	16411695	37356675	211893946	2	19204											
PTPRF	5792	broad.mit.edu	37	1	44086251	44086251	+	Splice_Site	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:44086251G>A	uc001cjr.3	+	31	5704	c.5364_splice	c.e31+1	p.R1788_splice	PTPRF_uc001cjs.3_Splice_Site_p.R1779_splice|PTPRF_uc001cju.3_Splice_Site_p.R1177_splice|PTPRF_uc009vwt.3_Splice_Site_p.R1348_splice|PTPRF_uc001cjv.3_Splice_Site_p.R1259_splice|PTPRF_uc001cjw.3_Splice_Site_p.R1014_splice	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1788	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGATGCCCGGGTGAGTGAGTG	0.547													A	44086251	G	A	44086251	5	1	274	1	0	0	0	0	0	0	1	0	12801	1275	44	3	5479	3	PTPRF	1	44086251	Splice_Site	SNP	G	TCGA-76-6656-01A-11D-1845-08	6729576	44086251	205164370	3	19205											
NEGR1	257194	broad.mit.edu	37	1	72058647	72058647	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:72058647A>G	uc001dfw.3	-	5	1021	c.793T>C	c.(793-795)Ttc>Ctc	p.F265L	NEGR1_uc001dfv.3_Missense_Mutation_p.F137L|NEGR1_uc010oqs.2_Missense_Mutation_p.F221L	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	265	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGGCCATTGAAGAGCCTAGAA	0.373													G	72058647	A	G	72058647	3	3	274	1	0	0	0	0	1	0	0	0	10317	72	3	4	279	4	NEGR1	1	72058647	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	27972396	72058647	177191974	4	19206											
COL24A1	255631	broad.mit.edu	37	1	86282552	86282552	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:86282552delT	uc001dlj.3	-	46	3945	c.3870delA	c.(3868-3870)aaafs	p.K1290fs	COL24A1_uc001dli.3_Frame_Shift_Del_p.K426fs|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Frame_Shift_Del_p.K590fs|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1290	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			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)		CTTGTATGCCTTTTGGCCCAA	0.388													-	86282552	T	-	86282552	7	5	274	1	0	1	0	1	0	0	0	0	3683	1606	56	0	1330	0	COL24A1	1	86282552	Frame_Shift_Del	DEL	T	TCGA-76-6656-01A-11D-1845-08	14223905	86282552	162968069	5	19207											
HFM1	164045	broad.mit.edu	37	1	91740328	91740328	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:91740328C>T	uc001doa.4	-	32	3726	c.3627G>A	c.(3625-3627)gaG>gaA	p.E1209E	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Silent_p.E888E|HFM1_uc001dob.4_Silent_p.E397E|HFM1_uc010osv.1_Silent_p.E893E	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1209							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAAAACCAAACTCTTTAAGGT	0.299													T	91740328	C	T	91740328	2	4	274	1	0	0	0	0	0	0	0	1	7083	564	20	3		3	HFM1	1	91740328	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	5457776	91740328	157510293	6	19208											
FAM102B	284611	broad.mit.edu	37	1	109167309	109167309	+	Silent	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:109167309T>C	uc010ouy.2	+	5	575	c.495T>C	c.(493-495)tcT>tcC	p.S165S		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	Homo sapiens family with sequence similarity 102, member B (FAM102B), mRNA.	165										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CTGGTGAATCTGAATCTTTGC	0.403													C	109167309	T	C	109167309	2	2	274	1	0	0	0	0	0	0	0	1	5383	1567	55	4		4	FAM102B	1	109167309	Silent	SNP	T	TCGA-76-6656-01A-11D-1845-08	17426981	109167309	140083312	7	19209											
RPTN	126638	broad.mit.edu	37	1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:152128277_152128280delTGTC	uc001ezs.1	-	2	1360_1363	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.R432fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(2)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525													-	152128280	TGTC	-	152128277	7	5	274	1	0	1	0	1	0	0	0	0	13664	1812	63	0	1060	0	RPTN	1	152128277	Frame_Shift_Del	DEL	TGTC	TCGA-76-6656-01A-11D-1845-08	42960968	152128277	97122344	8	19210											
FLG	2312	broad.mit.edu	37	1	152282565	152282565	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:152282565G>C	uc001ezu.1	-	2	4833	c.4797C>G	c.(4795-4797)gaC>gaG	p.D1599E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1599	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			GTCCCTCACTGTCCCTGTCCT	0.592									Ichthyosis				C	152282565	G	C	152282565	3	2	274	1	0	0	0	0	1	0	0	0	5922	1368	48	5	7392	5	FLG	1	152282565	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	154288	152282565	96968056	9	19211											
HDGF	3068	broad.mit.edu	37	1	156713958	156713958	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:156713958C>T	uc001fpy.4	-	3	808	c.486G>A	c.(484-486)ctG>ctA	p.L162L	HDGF_uc009wsd.3_Silent_p.L130L|HDGF_uc001fpz.4_Silent_p.L155L|HDGF_uc009wse.3_Silent_p.L178L|HDGF_uc010phr.2_Silent_p.L185L|HDGF_uc009wsf.3_Silent_p.L130L	NM_004494	NP_004485	P51858	HDGF_HUMAN	Homo sapiens hepatoma-derived growth factor (HDGF), transcript variant 1, mRNA.	162	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CAGTTACCTCCAGCAAGTCCC	0.612													T	156713958	C	T	156713958	2	4	274	1	0	0	0	0	0	0	0	1	7018	581	21	3		3	HDGF	1	156713958	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	4431393	156713958	92536663	10	19212											
PTGS2	5743	broad.mit.edu	37	1	186645642	186645642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:186645642C>T	uc001gsb.3	-	6	1064	c.927G>A	c.(925-927)tgG>tgA	p.W309*	PTGS2_uc009wyo.3_Nonsense_Mutation_p.W156*	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	309					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GCTCATCACCCCATTCAGGAT	0.448													T	186645642	C	T	186645642	4	4	274	1	0	0	0	0	0	1	0	0	12756	624	22	3	903	3	PTGS2	1	186645642	Nonsense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	29931684	186645642	62604979	11	19213											
OR6F1	343169	broad.mit.edu	37	1	247875393	247875393	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:247875393A>C	uc001idj.1	-	0	665	c.665T>G	c.(664-666)aTc>aGc	p.I222S		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			GATGGTGCTGATGATGTACAC	0.532													C	247875393	A	C	247875393	3	2	274	1	0	0	0	0	1	0	0	0	11201	333	12	5	265	5	OR6F1	1	247875393	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	61229751	247875393	1375228	12	19214											
C2orf89	129293	broad.mit.edu	37	2	85051303	85051303	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:85051303G>A	uc010ysl.2	-	5	1197	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	C2orf89_uc002sou.4_Missense_Mutation_p.R321W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	370						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						AGAGTGGGCCGTGTGGAGGTC	0.567													A	85051303	G	A	85051303	3	1	274	1	0	0	0	0	1	0	0	0	2203	1144	40	1	417	1	C2orf89	2	85051303	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		85051303	158148070	13	19215											
MYO7B	4648	broad.mit.edu	37	2	128384614	128384614	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:128384614G>A	uc002top.3	+	30	4255	c.4202G>A	c.(4201-4203)cGc>cAc	p.R1401H	MYO7B_uc002toq.1_Missense_Mutation_p.R254H|MYO7B_uc002tor.1_Missense_Mutation_p.R254H	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1401	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			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)		GACGCCGCCCGCCTGCAGTGG	0.637													A	128384614	G	A	128384614	3	1	274	1	0	0	0	0	1	0	0	0	10083	1087	38	1	4320	1	MYO7B	2	128384614	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	43333311	128384614	114814759	14	19216											
YSK4	80122	broad.mit.edu	37	2	135738842	135738842	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:135738842G>A	uc002tue.1	-	8	3500	c.3469C>T	c.(3469-3471)Cca>Tca	p.P1157S	YSK4_uc002tuf.1_Missense_Mutation_p.P339S|YSK4_uc010fnc.1_Missense_Mutation_p.P291S|YSK4_uc010fnd.1_Missense_Mutation_p.P1044S|YSK4_uc010zbg.1_Missense_Mutation_p.P289S|YSK4_uc021vpz.1_Missense_Mutation_p.P18S|YSK4_uc002tuh.4_Missense_Mutation_p.P885S|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1157	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGGCAATGGCCCAAAACGG	0.418													A	135738842	G	A	135738842	3	1	274	1	0	0	0	0	1	0	0	0	17492	1203	42	3	525	3	YSK4	2	135738842	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	7354228	135738842	107460531	15	19217											
FMNL2	114793	broad.mit.edu	37	2	153463859	153463859	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:153463859G>A	uc002tye.3	+	9	1250	c.883G>A	c.(883-885)Gga>Aga	p.G295R		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	295	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TCAGGTTTGTGGAGAAAAACA	0.313													A	153463859	G	A	153463859	3	1	274	1	0	0	0	0	1	0	0	0	5952	1349	47	3	921	3	FMNL2	2	153463859	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	17725017	153463859	89735514	16	19218											
LOC200726	200726	broad.mit.edu	37	2	207509344	207509344	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:207509344G>A	uc010fuh.1	+	1	559	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		TCTCAGCAGCGCAGCCACAGC	0.488													A	207509344	G	A	207509344	2	1	274	1	0	0	0	0	0	0	0	1	8872	1074	38	1		1	LOC200726	2	207509344	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	54045485	207509344	35690029	17	19219											
DNAH12	201625	broad.mit.edu	37	3	57493504	57493504	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:57493504C>A	uc003dit.2	-	7	944	c.763G>T	c.(763-765)Gca>Tca	p.A255S	DNAH12_uc003diu.2_Missense_Mutation_p.A255S	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	255	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCTCTTCTGCGTTTCTAGTT	0.333													A	57493504	C	A	57493504	3	1	274	1	0	0	0	0	1	0	0	0	4600	768	27	5	8766	5	DNAH12	3	57493504	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		57493504	140528926	18	19220											
SEMA5B	54437	broad.mit.edu	37	3	122632727	122632727	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:122632727C>T	uc003efz.1	-	14	2414	c.2110G>A	c.(2110-2112)Gtg>Atg	p.V704M	SEMA5B_uc011bju.1_Missense_Mutation_p.V646M|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.V704M|SEMA5B_uc010hro.1_Missense_Mutation_p.V646M|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	704	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCTTGCCCACGCAGATGCGG	0.657													T	122632727	C	T	122632727	3	4	274	1	0	0	0	0	1	0	0	0	14038	536	19	1	1381	1	SEMA5B	3	122632727	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	65139223	122632727	75389703	19	19221											
RTP1	132112	broad.mit.edu	37	3	186917605	186917605	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:186917605G>A	uc003frg.3	+	1	569	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	180					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GTGGCCAGCCGCCAGGACAAC	0.682													A	186917605	G	A	186917605	3	1	274	1	0	0	0	0	1	0	0	0	13733	1087	38	1	545	1	RTP1	3	186917605	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	64284878	186917605	11104825	20	19222											
CCDC149	91050	broad.mit.edu	37	4	24878210	24878210	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:24878210T>C	uc003grc.3	-	1	272	c.173A>G	c.(172-174)aAt>aGt	p.N58S	CCDC149_uc003grd.3_Missense_Mutation_p.N58S|CCDC149_uc011bxr.2_Missense_Mutation_p.N58S|CCDC149_uc003gre.3_Missense_Mutation_p.N3S	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	58										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCGGAGCTGATTGGCCATGAG	0.517													C	24878210	T	C	24878210	3	2	274	1	0	0	0	0	1	0	0	0	2783	1493	52	4	1464	4	CCDC149	4	24878210	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		24878210	166276066	21	19223											
EPHA5	2044	broad.mit.edu	37	4	66217156	66217156	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:66217156C>A	uc003hcy.3	-	13	2652	c.2459G>T	c.(2458-2460)gGa>gTa	p.G820V	EPHA5_uc003hcx.3_Missense_Mutation_p.G752V|EPHA5_uc003hcz.3_Missense_Mutation_p.G798V|EPHA5_uc011cah.2_Missense_Mutation_p.G821V|EPHA5_uc011cai.2_Missense_Mutation_p.G799V|EPHA5_uc003hda.2_Missense_Mutation_p.G821V	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	820	Protein kinase.			G -> E (in Ref. 3; CAD97914).	cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCGGGAAAGTCCAAAGTCAGA	0.443										TSP Lung(17;0.13)			A	66217156	C	A	66217156	3	1	274	1	0	0	0	0	1	0	0	0	5170	855	30	5	674	5	EPHA5	4	66217156	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	41338946	66217156	124937120	22	19224											
GK2	2712	broad.mit.edu	37	4	80328891	80328891	+	Missense_Mutation	SNP	C	C	A	rs147498656	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:80328891C>A	uc003hlu.3	-	0	482	c.464G>T	c.(463-465)cGt>cTt	p.R155L		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	155					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGCATCCAACGAAGTTTTAC	0.408													A	80328891	C	A	80328891	3	1	274	1	0	0	0	0	1	0	0	0	6421	536	19	5	1201	5	GK2	4	80328891	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	14111735	80328891	110825385	23	19225											
SPARCL1	8404	broad.mit.edu	37	4	88414795	88414795	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:88414795T>C	uc010ikm.3	-	4	1729	c.1157A>G	c.(1156-1158)cAa>cGa	p.Q386R	SPARCL1_uc011cdc.2_Missense_Mutation_p.Q261R|SPARCL1_uc003hqs.4_Missense_Mutation_p.Q386R|SPARCL1_uc011cdd.2_Missense_Mutation_p.Q261R	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	386					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTTTCTCTTTGCTCCTCAAT	0.443													C	88414795	T	C	88414795	3	2	274	1	0	0	0	0	1	0	0	0	14995	1812	63	4	869	4	SPARCL1	4	88414795	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	8085904	88414795	102739481	24	19226											
FAM198B	51313	broad.mit.edu	37	4	159052126	159052126	+	Silent	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:159052126T>C	uc003ipq.4	-	4	1595	c.1188A>G	c.(1186-1188)agA>agG	p.R396R	FAM198B_uc003ipp.4_Silent_p.R388R|FAM198B_uc003ipr.4_Silent_p.R388R	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	388						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCTTGCGAGGTCTGAATCCAC	0.413													C	159052126	T	C	159052126	2	2	274	1	0	0	0	0	0	0	0	1	5529	1664	58	4		4	FAM198B	4	159052126	Silent	SNP	T	TCGA-76-6656-01A-11D-1845-08	70637331	159052126	32102150	25	19227											
AHRR	57491	broad.mit.edu	37	5	428029	428029	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:428029C>T	uc003jav.3	+	8	925	c.882C>T	c.(880-882)ccC>ccT	p.P294P	AHRR_uc003jaw.3_Silent_p.P276P|AHRR_uc010isy.3_Silent_p.P122P|AHRR_uc010isz.3_Silent_p.P272P|AHRR_uc003jax.3_Silent_p.P35P|AHRR_uc003jay.3_Silent_p.P132P	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			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)			TTGCGGCACCCGTTCTCCTCC	0.577													T	428029	C	T	428029	2	4	274	1	0	0	0	0	0	0	0	1	417	639	23	2		2	AHRR	5	428029	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08		428029	180487231	26	19228											
SLC6A19	340024	broad.mit.edu	37	5	1216774	1216774	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:1216774C>T	uc003jbw.4	+	6	1045	c.989C>T	c.(988-990)aCa>aTa	p.T330I		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	330					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A329T(2)|p.T330T(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)			TTCCGCGCCACACAGCGCTAC	0.607													T	1216774	C	T	1216774	3	4	274	1	0	0	0	0	1	0	0	0	14682	478	17	3	1015	3	SLC6A19	5	1216774	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	788745	1216774	179698486	27	19229											
GZMK	3003	broad.mit.edu	37	5	54329635	54329635	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:54329635G>A	uc003jpl.1	+	4	720	c.676G>A	c.(676-678)Gct>Act	p.A226T		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	226	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A226S(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTCTTCCACGCTATAGTCTC	0.453													A	54329635	G	A	54329635	3	1	274	1	0	0	0	0	1	0	0	0	6918	1087	38	1	694	1	GZMK	5	54329635	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	53112861	54329635	126585625	28	19230											
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67589138	G	A	67589138	3	1	274	1	0	0	0	0	1	0	0	0	11918	1233	43	3	1290	3	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	13259503	67589138	113326122	29	19231											
SLCO4C1	353189	broad.mit.edu	37	5	101599411	101599411	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:101599411G>A	uc003knm.3	-	3	1163	c.876C>T	c.(874-876)taC>taT	p.Y292Y		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	292					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAACATCAATGTATATGGTTA	0.358													A	101599411	G	A	101599411	2	1	274	1	0	0	0	0	0	0	0	1	14730	1372	48	3		3	SLCO4C1	5	101599411	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	34010273	101599411	79315849	30	19232											
PCDHB5	26167	broad.mit.edu	37	5	140516927	140516927	+	Missense_Mutation	SNP	C	C	G	rs138297526		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140516927C>G	uc003liq.3	+	0	2128	c.1911C>G	c.(1909-1911)caC>caG	p.H637Q		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	637	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697													G	140516927	C	G	140516927	3	3	274	1	0	0	0	0	1	0	0	0	11545	477	17	5	1913	5	PCDHB5	5	140516927	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	38917516	140516927	40398333	31	19233											
PCDHB7	56129	broad.mit.edu	37	5	140554075	140554075	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140554075C>T	uc003lit.3	+	0	1833	c.1659C>T	c.(1657-1659)gaC>gaT	p.D553D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	553	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D553Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.721													T	140554075	C	T	140554075	2	4	274	1	0	0	0	0	0	0	0	1	11547	535	19	1		1	PCDHB7	5	140554075	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	37148	140554075	40361185	32	19234											
PCDHGC5	56113	broad.mit.edu	37	5	140720777	140720777	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140720777C>T	uc003ljk.2	+	0	2424	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.R747W|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	757					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)			GGACGGGGTTCGGGCTTTCCT	0.627													T	140720777	C	T	140720777	3	4	274	1	0	0	0	0	1	0	0	0	11571	875	31	2		2	PCDHGC5	5	140720777	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	166702	140720777	40194483	33	19235											
DNAH8	1769	broad.mit.edu	37	6	38850799	38850799	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:38850799T>G	uc021yzh.1	+	53	8081	c.7972T>G	c.(7972-7974)Ttg>Gtg	p.L2658V	DNAH8_uc003ooe.2_Missense_Mutation_p.L2441V	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						AACAAATTTTTTGATAGACAC	0.323													G	38850799	T	G	38850799	3	3	274	1	0	0	0	0	1	0	0	0	4607	1838	64	5	7519	5	DNAH8	6	38850799	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		38850799	132264268	34	19236											
SLC35B2	347734	broad.mit.edu	37	6	44222858	44222858	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:44222858delT	uc003oxd.3	-	3	1020	c.884delA	c.(883-885)tatfs	p.Y295fs	SLC35B2_uc011dvt.2_Frame_Shift_Del_p.Y198fs|SLC35B2_uc011dvu.2_Frame_Shift_Del_p.Y162fs|SLC35B2_uc021yzy.1_5'Flank	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.	295					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGACATCTTATAGGCAAACAG	0.532													-	44222858	T	-	44222858	7	5	274	1	0	1	0	1	0	0	0	0	14576	1406	49	0	418	0	SLC35B2	6	44222858	Frame_Shift_Del	DEL	T	TCGA-76-6656-01A-11D-1845-08	5372059	44222858	126892209	35	19237											
GSTA5	221357	broad.mit.edu	37	6	52699018	52699018	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:52699018C>T	uc003pba.1	-	4	405	c.335G>A	c.(334-336)tGt>tAt	p.C112Y		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	112	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.C112R(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTCTGGTTGACATATGAGCAG	0.373													T	52699018	C	T	52699018	3	4	274	1	0	0	0	0	1	0	0	0	6834	478	17	3	345	3	GSTA5	6	52699018	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	8476160	52699018	118416049	36	19238											
MYO6	4646	broad.mit.edu	37	6	76545638	76545638	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:76545638G>C	uc003pih.1	+	6	797	c.518G>C	c.(517-519)gGa>gCa	p.G173A	MYO6_uc003pig.1_Missense_Mutation_p.G173A|MYO6_uc003pii.1_Missense_Mutation_p.G173A	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	173	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAATCCTATGGAACAGGTCAA	0.279													C	76545638	G	C	76545638	3	2	274	1	0	0	0	0	1	0	0	0	10081	1174	41	5	540	5	MYO6	6	76545638	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	23846620	76545638	94569429	37	19239											
SIM1	6492	broad.mit.edu	37	6	100896034	100896034	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:100896034C>T	uc003pqj.4	-	6	1305	c.838G>A	c.(838-840)Gcg>Acg	p.A280T	SIM1_uc021zdg.1_Missense_Mutation_p.A280T|SIM1_uc010kcu.3_Missense_Mutation_p.A280T	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	280	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAATGGTGCGCGCAGCGCAGG	0.622													T	100896034	C	T	100896034	3	4	274	1	0	0	0	0	1	0	0	0	14323	768	27	1	1482	1	SIM1	6	100896034	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	24350396	100896034	70219033	38	19240											
ASCC3	10973	broad.mit.edu	37	6	101073206	101073206	+	Silent	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:101073206A>G	uc003pqk.3	-	29	4976	c.4647T>C	c.(4645-4647)atT>atC	p.I1549I		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1549	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATGGCTTCTAATTGCTGTTG	0.368													G	101073206	A	G	101073206	2	3	274	1	0	0	0	0	0	0	0	1	1033	358	13	4		4	ASCC3	6	101073206	Silent	SNP	A	TCGA-76-6656-01A-11D-1845-08	177172	101073206	70041861	39	19241											
SYNE1	23345	broad.mit.edu	37	6	152554981	152554981	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:152554981G>A	uc021zhb.1	-	109	20870	c.20647C>T	c.(20647-20649)Cgc>Tgc	p.R6883C	SYNE1_uc003qos.4_Missense_Mutation_p.R1407C|SYNE1_uc003qot.4_Missense_Mutation_p.R6812C|SYNE1_uc003qou.4_Missense_Mutation_p.R6883C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6883					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			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)		CTATCAATGCGCGACAGCTCA	0.512										HNSCC(10;0.0054)			A	152554981	G	A	152554981	3	1	274	1	0	0	0	0	1	0	0	0	15442	1087	38	1	5959	1	SYNE1	6	152554981	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	51481775	152554981	18560086	40	19242											
PDE10A	10846	broad.mit.edu	37	6	165808689	165808689	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:165808689G>A	uc003qun.3	-	15	1701	c.1456C>T	c.(1456-1458)Cgg>Tgg	p.R486W	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R416W|PDE10A_uc003quo.3_Missense_Mutation_p.R496W	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	486					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			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)	CCACAGGACCGATGAACCATG	0.383													A	165808689	G	A	165808689	3	1	274	1	0	0	0	0	1	0	0	0	11630	1057	37	2	915	2	PDE10A	6	165808689	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	13253708	165808689	5306378	41	19243											
SDK1	221935	broad.mit.edu	37	7	4050739	4050739	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:4050739C>A	uc003smx.3	+	14	2412	c.2273C>A	c.(2272-2274)aCa>aAa	p.T758K	SDK1_uc010kso.3_Missense_Mutation_p.T34K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	758	Fibronectin type-III 1.				cell adhesion	integral to membrane		p.T758K(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGCCGAGACAAGCAGGTGC	0.597													A	4050739	C	A	4050739	3	1	274	1	0	0	0	0	1	0	0	0	13968	478	17	5	2331	5	SDK1	7	4050739	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		4050739	155087924	42	19244											
SDK1	221935	broad.mit.edu	37	7	4189057	4189057	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:4189057G>A	uc003smx.3	+	29	4726	c.4587G>A	c.(4585-4587)tcG>tcA	p.S1529S	SDK1_uc010kso.3_Silent_p.S805S|SDK1_uc003smy.3_Silent_p.S16S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1529	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTACTCCTCGTCCATCAGCC	0.682													A	4189057	G	A	4189057	2	1	274	1	0	0	0	0	0	0	0	1	13968	1132	40	1		1	SDK1	7	4189057	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	138318	4189057	154949606	43	19245											
FAM188B	84182	broad.mit.edu	37	7	30830978	30830978	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:30830978C>T	uc003tbt.3	+	4	938	c.861C>T	c.(859-861)gcC>gcT	p.A287A	FAM188B_uc010kwe.3_Silent_p.A258A	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	287										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCACTGCCAGCAGCCCTC	0.637													T	30830978	C	T	30830978	2	4	274	1	0	0	0	0	0	0	0	1	5515	581	21	3		3	FAM188B	7	30830978	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	26641921	30830978	128307685	44	19246											
EGFR	1956	broad.mit.edu	37	7	55220329	55220329	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:55220329G>A	uc003tqk.3	+	5	965	c.719G>A	c.(718-720)tGc>tAc	p.C240Y	EGFR_uc003tqh.3_Missense_Mutation_p.C240Y|EGFR_uc003tqi.3_Missense_Mutation_p.C240Y|EGFR_uc003tqj.3_Missense_Mutation_p.C240Y|EGFR_uc022adm.1_Missense_Mutation_p.C240Y|EGFR_uc010kzg.2_Missense_Mutation_p.C195Y|EGFR_uc022adn.1_Missense_Mutation_p.C195Y|EGFR_uc011kco.2_Missense_Mutation_p.C187Y|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	240					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCTGCAGGCTGCACAGGCCCC	0.647		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55220329	G	A	55220329	3	1	274	1	0	0	0	0	1	0	0	0	4967	1319	46	3	741	3	EGFR	7	55220329	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	24389351	55220329	103918334	45	19247											
PHKG1	5260	broad.mit.edu	37	7	56151084	56151084	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:56151084T>C	uc011kdb.1	-	6	725	c.530A>G	c.(529-531)aAc>aGc	p.N177S	PSPH_uc003trj.3_Intron|PHKG1_uc003try.1_Missense_Mutation_p.N39S|PHKG1_uc003trz.1_Missense_Mutation_p.N145S|PHKG1_uc011kdc.1_Missense_Mutation_p.N136S|PHKG1_uc011kdd.1_Missense_Mutation_p.N91S	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.	145	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGCACGATGTTGAGTTTGTG	0.527													C	56151084	T	C	56151084	3	2	274	1	0	0	0	0	1	0	0	0	11846	1725	60	4	749	4	PHKG1	7	56151084	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	930755	56151084	102987579	46	19248											
CALN1	83698	broad.mit.edu	37	7	71571179	71571179	+	Silent	SNP	G	G	A	rs139754746		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:71571179G>A	uc003twb.4	-	3	736	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													A	71571179	G	A	71571179	2	1	274	1	0	0	0	0	0	0	0	1	2591	1078	38	1		1	CALN1	7	71571179	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	15420095	71571179	87567484	47	19249											
KCND2	3751	broad.mit.edu	37	7	119915031	119915031	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:119915031C>T	uc003vjj.1	+	0	1310	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	115					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.Y115Y(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCTCTGCTTACGATGAAGAAC	0.542													T	119915031	C	T	119915031	2	4	274	1	0	0	0	0	0	0	0	1	8019	547	19	1		1	KCND2	7	119915031	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	48343852	119915031	39223632	48	19250											
CCDC136	64753	broad.mit.edu	37	7	128445464	128445464	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:128445464G>A	uc003vnv.2	+	5	1250	c.834G>A	c.(832-834)acG>acA	p.T278T	CCDC136_uc003vnu.2_Silent_p.T316T|CCDC136_uc003vnx.2_Silent_p.T94T|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	278	Glu-rich.					integral to membrane	protein binding	p.T278T(3)|p.T394T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGAGTATGACGTCAGCAGAGT	0.502													A	128445464	G	A	128445464	2	1	274	1	0	0	0	0	0	0	0	1	2770	1132	40	1		1	CCDC136	7	128445464	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	8530433	128445464	30693199	49	19251											
TRPV6	55503	broad.mit.edu	37	7	142570125	142570125	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:142570125C>T	uc003wbx.2	-	14	2124	c.1895_splice	c.e14+1	p.R632_splice	TRPV6_uc003wbw.1_Splice_Site_p.R418_splice|TRPV6_uc010lou.1_Splice_Site_p.R503_splice	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	632					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TATCACTCACCGCAGGAACCA	0.662													T	142570125	C	T	142570125	3	4	274	1	0	0	0	0	1	0	0	0	16597	666	23	2	290	2	TRPV6	7	142570125	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	14124661	142570125	16568538	50	19252											
MSR1	4481	broad.mit.edu	37	8	16012638	16012638	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:16012638G>A	uc010lsu.3	-	5	951	c.887C>T	c.(886-888)cCg>cTg	p.P296L	MSR1_uc003wwz.3_Missense_Mutation_p.P278L|MSR1_uc003wxa.3_Missense_Mutation_p.P278L|MSR1_uc003wxb.3_Missense_Mutation_p.P278L|MSR1_uc011kxz.2_Missense_Mutation_p.P52L	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	278	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTTTTCACCCGGGGGTCCAGG	0.398													A	16012638	G	A	16012638	3	1	274	1	0	0	0	0	1	0	0	0	9886	1116	39	2	590	2	MSR1	8	16012638	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		16012638	130351384	51	19253											
PRDM14	63978	broad.mit.edu	37	8	70964463	70964463	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:70964463C>A	uc003xym.3	-	7	1767	c.1565G>T	c.(1564-1566)tGt>tTt	p.C522F		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGATTTACCACAGTACTTGCA	0.517													A	70964463	C	A	70964463	3	1	274	1	0	0	0	0	1	0	0	0	12455	478	17	5	154	5	PRDM14	8	70964463	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	54951825	70964463	75399559	52	19254											
MTDH	92140	broad.mit.edu	37	8	98731338	98731338	+	Missense_Mutation	SNP	G	G	A	rs143317071		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:98731338G>A	uc003yhz.3	+	9	1770	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	481					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.T480T(1)|p.R481S(1)|p.T480A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCTAAAACCCGTCCAAAACAG	0.333													A	98731338	G	A	98731338	3	1	274	1	0	0	0	0	1	0	0	0	9917	1145	40	1	1480	1	MTDH	8	98731338	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	27766875	98731338	47632684	53	19255											
WISP1	8840	broad.mit.edu	37	8	134239690	134239690	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:134239690G>A	uc003yub.3	+	4	947	c.841G>A	c.(841-843)Gca>Aca	p.A281T	WISP1_uc003yuc.3_Missense_Mutation_p.A194T|WISP1_uc010meb.3_Missense_Mutation_p.A109T|WISP1_uc010mec.3_Missense_Mutation_p.G129D|WISP1_uc010med.3_Missense_Mutation_p.A36T|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	281	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCAGCCAGAGGCATCCATGAA	0.527													A	134239690	G	A	134239690	3	1	274	1	0	0	0	0	1	0	0	0	17369	1203	42	3	859	3	WISP1	8	134239690	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	35508352	134239690	12124332	54	19256											
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:2837296T>C	uc003zhp.1	-	2	284	c.188A>G	c.(187-189)aAg>aGg	p.K63R	KIAA0020_uc003zhq.1_Missense_Mutation_p.K63R	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388													C	2837296	T	C	2837296	3	2	274	1	0	0	0	0	1	0	0	0	8152	1609	56	4	1822	4	KIAA0020	9	2837296	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		2837296	138376135	55	19257											
FAM75C1	441452	broad.mit.edu	37	9	90536630	90536630	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:90536630G>A	uc010mqi.3	+	3	1837	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H	FAM75C1_uc004apq.4_Missense_Mutation_p.R586H	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GTGAGTGTGCGTCGATCCTGG	0.512													A	90536630	G	A	90536630	3	1	274	1	0	0	0	0	1	0	0	0	5623	1145	40	1	1822	1	FAM75C1	9	90536630	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	87699334	90536630	50676801	56	19258											
BICD2	23299	broad.mit.edu	37	9	95481762	95481762	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:95481762G>A	uc004asp.1	-	4	1222	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	BICD2_uc004aso.1_Missense_Mutation_p.R389C	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	389					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTGTGAGGCGGGTCACCTTC	0.647													A	95481762	G	A	95481762	3	1	274	1	0	0	0	0	1	0	0	0	1429	1116	39	2	1424	2	BICD2	9	95481762	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	4945132	95481762	45731669	57	19259											
SH2D3C	10044	broad.mit.edu	37	9	130507103	130507103	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:130507103A>G	uc004bsc.3	-	6	1682	c.1540T>C	c.(1540-1542)Tcc>Ccc	p.S514P	SH2D3C_uc010mxo.3_Missense_Mutation_p.S354P|SH2D3C_uc004bry.3_Missense_Mutation_p.S356P|SH2D3C_uc004brz.4_Missense_Mutation_p.S160P|SH2D3C_uc011mak.2_Missense_Mutation_p.S160P|SH2D3C_uc004bsb.3_Missense_Mutation_p.S446P|SH2D3C_uc004bsa.3_Missense_Mutation_p.S357P	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	514					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.T513N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCTGGCTGGAGGTCTCAGTC	0.622													G	130507103	A	G	130507103	3	3	274	1	0	0	0	0	1	0	0	0	14234	304	11	4	1066	4	SH2D3C	9	130507103	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	35025341	130507103	10706328	58	19260											
NTNG2	84628	broad.mit.edu	37	9	135042315	135042315	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:135042315A>C	uc004cbh.2	+	1	873	c.97A>C	c.(97-99)Acc>Ccc	p.T33P		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	33					axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGAGGGCCCCACCTGGGAGTT	0.607													C	135042315	A	C	135042315	3	2	274	1	0	0	0	0	1	0	0	0	10705	159	6	5	99	5	NTNG2	9	135042315	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	4535212	135042315	6171116	59	19261											
COL5A1	1289	broad.mit.edu	37	9	137716532	137716532	+	Silent	SNP	C	C	T	rs149981025		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:137716532C>T	uc004cfe.3	+	61	5167	c.4785C>T	c.(4783-4785)gaC>gaT	p.D1595D	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1595	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGCTGGACGACGGGAATGGCG	0.627													T	137716532	C	T	137716532	2	4	274	1	0	0	0	0	0	0	0	1	3696	535	19	1		1	COL5A1	9	137716532	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	2674217	137716532	3496899	60	19262											
TET1	80312	broad.mit.edu	37	10	70332622	70332622	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:70332622A>G	uc001jok.4	+	1	1032	c.527A>G	c.(526-528)cAa>cGa	p.Q176R		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	176					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATTGGTGTACAAAATCCCTCT	0.433													G	70332622	A	G	70332622	3	3	274	1	0	0	0	0	1	0	0	0	15766	130	5	4	529	4	TET1	10	70332622	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08		70332622	65202125	61	19263											
ATRNL1	26033	broad.mit.edu	37	10	117061383	117061383	+	Missense_Mutation	SNP	C	C	T	rs140372621		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:117061383C>T	uc001lcg.3	+	16	3034	c.2648C>T	c.(2647-2649)gCg>gTg	p.A883V	ATRNL1_uc010qsm.2_Missense_Mutation_p.A58V|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	883						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATCAAAATGCGAGGCCGTGC	0.378													T	117061383	C	T	117061383	3	4	274	1	0	0	0	0	1	0	0	0	1207	768	27	1	2714	1	ATRNL1	10	117061383	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	46728761	117061383	18473364	62	19264											
HSPA12A	259217	broad.mit.edu	37	10	118434624	118434624	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:118434624C>T	uc001lct.3	-	11	1801	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	HSPA12A_uc001lcu.3_Missense_Mutation_p.D483N	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	566							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCAAAGACGTCGGTGCACCAC	0.622													T	118434624	C	T	118434624	3	4	274	1	0	0	0	0	1	0	0	0	7404	884	31	2	335	2	HSPA12A	10	118434624	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	1373241	118434624	17100123	63	19265											
TRIM21	6737	broad.mit.edu	37	11	4410895	4410895	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:4410895C>A	uc001lyy.1	-	2	606	c.493G>T	c.(493-495)Gca>Tca	p.A165S		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	165					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTCCAGTCTGCTCTCTTTATT	0.507													A	4410895	C	A	4410895	3	1	274	1	0	0	0	0	1	0	0	0	16492	797	28	5	954	5	TRIM21	11	4410895	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		4410895	130595621	64	19266											
OR51G1	79324	broad.mit.edu	37	11	4944754	4944754	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:4944754G>A	uc010qyr.2	-	0	816	c.816C>T	c.(814-816)cgC>cgT	p.R272R		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGTACAACGCGGGGCAGAT	0.498													A	4944754	G	A	4944754	2	1	274	1	0	0	0	0	0	0	0	1	11098	1074	38	1		1	OR51G1	11	4944754	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	533859	4944754	130061762	65	19267											
C11orf41	25758	broad.mit.edu	37	11	33566719	33566719	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:33566719G>A	uc021qfs.1	+	1	2413	c.2289G>A	c.(2287-2289)atG>atA	p.M763I	C11orf41_uc001mun.1_Missense_Mutation_p.M769I	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	763						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						ACCTGGAGATGCCCAGAGCAT	0.592													A	33566719	G	A	33566719	3	1	274	1	0	0	0	0	1	0	0	0	1640	1319	46	3	2313	3	C11orf41	11	33566719	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	28621965	33566719	101439797	66	19268											
LRRC4C	57689	broad.mit.edu	37	11	40136459	40136459	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:40136459T>C	uc021qgf.1	-	0	1384	c.1384A>G	c.(1384-1386)Atg>Gtg	p.M462V	LRRC4C_uc001mxc.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxd.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxa.1_Missense_Mutation_p.M462V|LRRC4C_uc001mxb.1_Missense_Mutation_p.M458V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	462					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GACGGTTCCATAGTCTCTACT	0.507													C	40136459	T	C	40136459	3	2	274	1	0	0	0	0	1	0	0	0	9008	1406	49	4	542	4	LRRC4C	11	40136459	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	6569740	40136459	94870057	67	19269											
INCENP	3619	broad.mit.edu	37	11	61895641	61895641	+	Missense_Mutation	SNP	C	C	T	rs61744797		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:61895641C>T	uc001nsw.1	+	1	210	c.8C>T	c.(7-9)aCg>aTg	p.T3M	INCENP_uc009ynv.3_Missense_Mutation_p.T3M|INCENP_uc009ynw.1_Missense_Mutation_p.T3M|INCENP_uc001nsx.1_Missense_Mutation_p.T3M	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	3					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCATGGGGACGACGGCCCCA	0.567													T	61895641	C	T	61895641	3	4	274	1	0	0	0	0	1	0	0	0	7733	536	19	1	10	1	INCENP	11	61895641	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	21759182	61895641	73110875	68	19270											
RSF1	51773	broad.mit.edu	37	11	77413468	77413468	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:77413468T>C	uc001oyn.3	-	5	926	c.806A>G	c.(805-807)aAt>aGt	p.N269S	RSF1_uc001oym.3_Missense_Mutation_p.N17S	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	269	Glu-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTCTAGAACATTGGCTGTAGA	0.348													C	77413468	T	C	77413468	3	2	274	1	0	0	0	0	1	0	0	0	13699	1493	52	4	3563	4	RSF1	11	77413468	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	15517827	77413468	57593048	69	19271											
KCNJ5	3762	broad.mit.edu	37	11	128786516	128786516	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:128786516C>T	uc001qet.3	+	2	1464	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	KCNJ5_uc009zck.3_Missense_Mutation_p.P384S|KCNJ5_uc001qew.3_Missense_Mutation_p.P384S	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	384					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCCCAGCCCCCCACTGCTGGG	0.627													T	128786516	C	T	128786516	3	4	274	1	0	0	0	0	1	0	0	0	8054	623	22	3	1156	3	KCNJ5	11	128786516	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	51373048	128786516	6220000	70	19272											
LGR5	8549	broad.mit.edu	37	12	71977624	71977624	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:71977624G>A	uc001swl.3	+	17	1882	c.1834G>A	c.(1834-1836)Gtg>Atg	p.V612M	LGR5_uc001swm.3_Missense_Mutation_p.V588M|LGR5_uc021rar.1_Missense_Mutation_p.V540M|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	612						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTCCAGTGCCGTGCTGGCTGG	0.507													A	71977624	G	A	71977624	3	1	274	1	0	0	0	0	1	0	0	0	8757	1145	40	1	1904	1	LGR5	12	71977624	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		71977624	61874271	71	19273											
CCDC41	51134	broad.mit.edu	37	12	94761707	94761707	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:94761707C>G	uc001tdd.3	-	10	1792	c.1206G>C	c.(1204-1206)gaG>gaC	p.E402D	CCDC41_uc001tde.3_Missense_Mutation_p.E402D|CCDC41_uc009zsw.1_Non-coding_Transcript	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	394										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTAATCTGTTCTCGAGTTCTA	0.343													G	94761707	C	G	94761707	3	3	274	1	0	0	0	0	1	0	0	0	2813	912	32	5	927	5	CCDC41	12	94761707	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	22784083	94761707	39090188	72	19274											
RBM19	9904	broad.mit.edu	37	12	114282581	114282581	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:114282581C>T	uc009zwi.2	-	22	2821	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	RBM19_uc001tvn.4_Missense_Mutation_p.A893T|RBM19_uc001tvm.3_Missense_Mutation_p.A893T	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	893	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			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)					TGACACAGGGCGTTGAAGGCT	0.642													T	114282581	C	T	114282581	3	4	274	1	0	0	0	0	1	0	0	0	13121	768	27	1	213	1	RBM19	12	114282581	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	19520874	114282581	19569314	73	19275											
RNF17	56163	broad.mit.edu	37	13	25417989	25417989	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:25417989C>T	uc001upr.3	+	19	2752	c.2711C>T	c.(2710-2712)tCt>tTt	p.S904F	RNF17_uc010tdd.1_Missense_Mutation_p.S763F|RNF17_uc010tde.2_Missense_Mutation_p.S904F|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.S843F|RNF17_uc010aac.3_Missense_Mutation_p.S102F|RNF17_uc010aad.3_5'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	904					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)		TCTGCAAAATCTCTACCTAAT	0.323													T	25417989	C	T	25417989	3	4	274	1	0	0	0	0	1	0	0	0	13461	913	32	3	2789	3	RNF17	13	25417989	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		25417989	89751889	74	19276											
SHISA2	387914	broad.mit.edu	37	13	26621160	26621160	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:26621160C>T	uc001uqm.1	-	1	464	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	Homo sapiens shisa homolog 2 (Xenopus laevis) (SHISA2), mRNA.	127					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						ATGATAAAGGCGACAAACACG	0.542													T	26621160	C	T	26621160	3	4	274	1	0	0	0	0	1	0	0	0	14280	768	27	1	512	1	SHISA2	13	26621160	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	1203171	26621160	88548718	75	19277											
PCDH17	27253	broad.mit.edu	37	13	58299189	58299189	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:58299189C>G	uc001vhq.1	+	3	4133	c.3241C>G	c.(3241-3243)Cct>Gct	p.P1081A	PCDH17_uc010aec.1_Missense_Mutation_p.P1080A|PCDH17_uc001vhr.1_Missense_Mutation_p.P170A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1081					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			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)		ATATCTGTCACCTAGTAAGCA	0.527													G	58299189	C	G	58299189	3	3	274	1	0	0	0	0	1	0	0	0	11512	507	18	5	3255	5	PCDH17	13	58299189	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	31678029	58299189	56870689	76	19278											
DACH1	1602	broad.mit.edu	37	13	72147083	72147083	+	Silent	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:72147083T>C	uc021rkj.1	-	3	1617	c.1194A>G	c.(1192-1194)gcA>gcG	p.A398A	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	448					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.A398T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGTGACAGATGCTGGAGGTA	0.473													C	72147083	T	C	72147083	2	2	274	1	0	0	0	0	0	0	0	1	4220	1451	51	4		4	DACH1	13	72147083	Silent	SNP	T	TCGA-76-6656-01A-11D-1845-08	13847894	72147083	43022795	77	19279											
ARID4A	5926	broad.mit.edu	37	14	58771705	58771705	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr14:58771705A>G	uc001xdp.3	+	3	415	c.161A>G	c.(160-162)gAc>gGc	p.D54G	ARID4A_uc010apf.1_Non-coding_Transcript|ARID4A_uc001xdo.3_Missense_Mutation_p.D54G|ARID4A_uc001xdq.3_Missense_Mutation_p.D54G	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	54					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTACAAGATGACCAAGTAAAG	0.279													G	58771705	A	G	58771705	3	3	274	1	0	0	0	0	1	0	0	0	919	275	10	4	171	4	ARID4A	14	58771705	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08		58771705	48577835	78	19280											
SYNE2	23224	broad.mit.edu	37	14	64450574	64450574	+	Silent	SNP	A	A	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr14:64450574A>G	uc001xgl.3	+	17	2351	c.2121A>G	c.(2119-2121)gaA>gaG	p.E707E	SYNE2_uc001xgm.3_Silent_p.E707E|SYNE2_uc021ruh.1_Silent_p.E707E	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	707					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			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)		TGTCAGTAGAACTTCCTGAAA	0.259													G	64450574	A	G	64450574	2	3	274	1	0	0	0	0	0	0	0	1	15443	40	2	4		4	SYNE2	14	64450574	Silent	SNP	A	TCGA-76-6656-01A-11D-1845-08	5678869	64450574	42898966	79	19281											
ATP10A	57194	broad.mit.edu	37	15	26026298	26026298	+	Silent	SNP	G	G	A	rs145190957	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:26026298G>A	uc010ayu.3	-	1	628	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	174					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGATTTCGTTGCAGCGAA	0.498													A	26026298	G	A	26026298	2	1	274	1	0	0	0	0	0	0	0	1	1116	1136	40	1		1	ATP10A	15	26026298	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08		26026298	76505094	80	19282											
SPINT1	6692	broad.mit.edu	37	15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:41146113C>T	uc001zna.3	+	4	1151	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	316						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													T	41146113	C	T	41146113	3	4	274	1	0	0	0	0	1	0	0	0	15067	768	27	1	961	1	SPINT1	15	41146113	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	15119815	41146113	61385279	81	19283											
GABPB1	2553	broad.mit.edu	37	15	50593063	50593063	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:50593063G>T	uc001zyb.3	-	5	1080	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	GABPB1_uc001zya.3_Missense_Mutation_p.S207Y|GABPB1_uc010ufg.2_Missense_Mutation_p.S143Y|GABPB1_uc001zyd.3_Missense_Mutation_p.S207Y|GABPB1_uc001zye.3_Missense_Mutation_p.S219Y|GABPB1_uc001zyf.3_Missense_Mutation_p.S207Y|GABPB1_uc001zyc.3_Missense_Mutation_p.S207Y	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	219					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TGATGTAGAAGAGTTTCCAAA	0.363													T	50593063	G	T	50593063	3	4	274	1	0	0	0	0	1	0	0	0	6158	942	33	5	595	5	GABPB1	15	50593063	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	9446950	50593063	51938329	82	19284											
USP7	7874	broad.mit.edu	37	16	8998407	8998407	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:8998407G>A	uc002czl.2	-	14	1788	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	USP7_uc010uyk.1_Missense_Mutation_p.A431V|USP7_uc010uyj.1_Missense_Mutation_p.A431V|USP7_uc002czk.2_Missense_Mutation_p.A514V|USP7_uc010uyl.1_Intron	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	530					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A530V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTCGGTGACCGCCTGTAAAAC	0.502													A	8998407	G	A	8998407	3	1	274	1	0	0	0	0	1	0	0	0	17085	1087	38	1	1787	1	USP7	16	8998407	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		8998407	81356346	83	19285											
ERCC4	2072	broad.mit.edu	37	16	14029049	14029049	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:14029049G>A	uc002dce.2	+	7	1269	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	ERCC4_uc010uyz.1_5'UTR	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	420					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GTTCCCAGCTGAGAGACTATA	0.403			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	14029049	G	A	14029049	2	1	274	1	0	0	0	0	0	0	0	1	5215	1277	45	3		3	ERCC4	16	14029049	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	5030642	14029049	76325704	84	19286											
CNOT1	23019	broad.mit.edu	37	16	58587731	58587731	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:58587731C>T	uc002env.3	-	21	3218	c.2925G>A	c.(2923-2925)ttG>ttA	p.L975L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.L970L|CNOT1_uc002enx.3_Silent_p.L975L|CNOT1_uc002enz.1_Silent_p.L404L|CNOT1_uc010vik.2_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	975					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGATAGAAGCCAAATGCTGAC	0.368													T	58587731	C	T	58587731	2	4	274	1	0	0	0	0	0	0	0	1	3617	593	21	3		3	CNOT1	16	58587731	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	44558682	58587731	31767022	85	19287											
PIK3R5	23533	broad.mit.edu	37	17	8791674	8791674	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:8791674C>T	uc002glt.3	-	9	1497	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	PIK3R5_uc010vuz.2_Missense_Mutation_p.R477H|PIK3R5_uc021tqc.1_Missense_Mutation_p.R91H|PIK3R5_uc010cob.2_Missense_Mutation_p.R91H|PIK3R5_uc010coa.2_Missense_Mutation_p.R91H|PIK3R5_uc002glu.4_Missense_Mutation_p.R91H	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	477					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGGCAGGGAGCGGGAGCGCTG	0.721													T	8791674	C	T	8791674	3	4	274	1	0	0	0	0	1	0	0	0	11922	768	27	1	1252	1	PIK3R5	17	8791674	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		8791674	72403536	86	19288											
MYH13	8735	broad.mit.edu	37	17	10215249	10215249	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:10215249G>A	uc002gmk.1	-	31	4600	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1504					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGTTCTCTCGCCTCAGTGTC	0.542													A	10215249	G	A	10215249	4	1	274	1	0	0	0	0	0	1	0	0	10032	1095	38	1	1346	1	MYH13	17	10215249	Nonsense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	1423575	10215249	70979961	87	19289											
KRT35	3886	broad.mit.edu	37	17	39637207	39637207	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:39637207C>A	uc002hws.3	-	0	186	c.143G>T	c.(142-144)aGt>aTt	p.S48I		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	48	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGCAGAGAAACTTCTGGCCAC	0.622													A	39637207	C	A	39637207	3	1	274	1	0	0	0	0	1	0	0	0	8472	565	20	5	1252	5	KRT35	17	39637207	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	29421958	39637207	41558003	88	19290											
CYTH1	9267	broad.mit.edu	37	17	76705733	76705733	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:76705733T>C	uc021ueg.1	-	2	176	c.105_splice	c.e2+1	p.Q35_splice	CYTH1_uc002jvw.3_Splice_Site_p.Q35_splice|CYTH1_uc010wtw.1_Splice_Site|CYTH1_uc010wtx.1_Splice_Site	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	35					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CTCTCCTACCTGAATGTCAGC	0.498													C	76705733	T	C	76705733	3	2	274	1	0	0	0	0	1	0	0	0	4203	1594	55	4	1140	4	CYTH1	17	76705733	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	37068526	76705733	4489477	89	19291											
ZNF556	80032	broad.mit.edu	37	19	2878077	2878077	+	Missense_Mutation	SNP	C	C	T	rs139830711	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:2878077C>T	uc002lwp.1	+	3	1208	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	ZNF556_uc002lwq.3_Missense_Mutation_p.T373M	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AAATGTGAAACGTGTGGGAAA	0.483													T	2878077	C	T	2878077	3	4	274	1	0	0	0	0	1	0	0	0	17984	536	19	1	1135	1	ZNF556	19	2878077	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		2878077	56250906	90	19292											
ATCAY	85300	broad.mit.edu	37	19	3918804	3918804	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:3918804C>T	uc010xhz.2	+	12	1503	c.1020_splice	c.e12-1	p.S340_splice	ATCAY_uc002lyy.4_Splice_Site_p.S334_splice|ATCAY_uc010dts.3_Splice_Site_p.S91_splice			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	334					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGTCCACAGCGCGAGGCCCC	0.612													T	3918804	C	T	3918804	2	4	274	1	0	0	0	0	0	0	0	1	1077	782	27	1		1	ATCAY	19	3918804	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	1040727	3918804	55210179	91	19293											
FUT3	2525	broad.mit.edu	37	19	5844141	5844141	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:5844141G>A	uc002mdk.2	-	1	807	c.710C>T	c.(709-711)aCg>aTg	p.T237M	FUT3_uc002mdm.2_Missense_Mutation_p.T237M|FUT3_uc002mdj.2_Missense_Mutation_p.T237M|FUT3_uc002mdl.2_Missense_Mutation_p.T237M|FUT3_uc021unn.1_Missense_Mutation_p.T237M	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	237					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	p.T237M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCGGGACAGCGTCTCCATCAT	0.622													A	5844141	G	A	5844141	3	1	274	1	0	0	0	0	1	0	0	0	6105	1145	40	1	379	1	FUT3	19	5844141	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	1925337	5844141	53284842	92	19294											
TNFSF14	8740	broad.mit.edu	37	19	6669943	6669943	+	Silent	SNP	C	C	T	rs140577063		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:6669943C>T	uc002mfk.2	-	1	520	c.138G>A	c.(136-138)ctG>ctA	p.L46L	TNFSF14_uc002mfj.2_Intron	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	46					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGGCCCCCATCAGCAACAGCA	0.662													T	6669943	C	T	6669943	2	4	274	1	0	0	0	0	0	0	0	1	16304	813	29	3		3	TNFSF14	19	6669943	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	825802	6669943	52459040	93	19295											
MUC16	94025	broad.mit.edu	37	19	9047128	9047128	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:9047128C>G	uc002mkp.3	-	4	34707	c.34503G>C	c.(34501-34503)atG>atC	p.M11501I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11503	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						TCCTGGGAACCATTGTGTTGG	0.507													G	9047128	C	G	9047128	3	3	274	1	0	0	0	0	1	0	0	0	9973	594	21	5	9340	5	MUC16	19	9047128	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	2377185	9047128	50081855	94	19296											
MUC16	94025	broad.mit.edu	37	19	9082859	9082859	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:9082859T>A	uc002mkp.3	-	0	9160	c.8956A>T	c.(8956-8958)Aga>Tga	p.R2986*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2987	Ser-rich.|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						GAGGCATATCTAGGGTCCCCT	0.498													A	9082859	T	A	9082859	4	1	274	1	0	0	0	0	0	1	0	0	9973	1530	53	5	34903	5	MUC16	19	9082859	Nonsense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	35731	9082859	50046124	95	19297											
NOTCH3	4854	broad.mit.edu	37	19	15289676	15289676	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:15289676C>T	uc002nan.3	-	22	3871	c.3795G>A	c.(3793-3795)ccG>ccA	p.P1265P	NOTCH3_uc002nao.1_Silent_p.P1213P	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1265	EGF-like 32.				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			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)			CCCCAGGACCCGGGCTAGGAC	0.647													T	15289676	C	T	15289676	2	4	274	1	0	0	0	0	0	0	0	1	10550	639	23	2		2	NOTCH3	19	15289676	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	6206817	15289676	43839307	96	19298											
IL12RB1	3594	broad.mit.edu	37	19	18180414	18180414	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:18180414G>A	uc002nhx.1	-	10	1302	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	IL12RB1_uc002nhw.1_Silent_p.D377D|IL12RB1_uc010xqb.1_Silent_p.D377D	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	377	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAAGGCCCCCGTCCTGGCCCA	0.627													A	18180414	G	A	18180414	2	1	274	1	0	0	0	0	0	0	0	1	7626	1136	40	1		1	IL12RB1	19	18180414	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	2890738	18180414	40948569	97	19299											
ZNF91	7644	broad.mit.edu	37	19	23544856	23544856	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:23544856delG	uc002nre.3	-	3	1038	c.925delC	c.(925-927)cttfs	p.L309fs	ZNF91_uc010xrj.2_Frame_Shift_Del_p.L277fs	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	309						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTTTAGCAAGGGTTGAAGAA	0.403													-	23544856	G	-	23544856	7	5	274	1	0	1	0	1	0	0	0	0	18197	1000	35	0	2654	0	ZNF91	19	23544856	Frame_Shift_Del	DEL	G	TCGA-76-6656-01A-11D-1845-08	5364442	23544856	35584127	98	19300											
GPATCH1	55094	broad.mit.edu	37	19	33604693	33604693	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:33604693C>T	uc002nug.1	+	13	2227	c.1913C>T	c.(1912-1914)cCa>cTa	p.P638L	GPATCH1_uc002nuh.1_Missense_Mutation_p.P15L	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	638						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTTGGCTTACCAAGAGTGAAG	0.418													T	33604693	C	T	33604693	3	4	274	1	0	0	0	0	1	0	0	0	6590	594	21	3	1967	3	GPATCH1	19	33604693	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	10059837	33604693	25524290	99	19301											
WDR88	126248	broad.mit.edu	37	19	33666419	33666421	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:33666419_33666421delTCA	uc002nui.3	+	10	1438_1440	c.1360_1362delTCA	c.(1360-1362)tcadel	p.S458del	TRNA_Thr_uc021usc.1_5'Flank	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TACTTCATCGTCATCATCATCAT	0.527													-	33666421	TCA	-	33666419	7	5	274	1	0	1	0	1	0	0	0	0	17332	1667	58	0	1402	0	WDR88	19	33666419	In_Frame_Del	DEL	TCA	TCGA-76-6656-01A-11D-1845-08	61726	33666419	25462564	100	19302											
CYP2F1	1572	broad.mit.edu	37	19	41622139	41622139	+	Missense_Mutation	SNP	G	G	A	rs142026539		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:41622139G>A	uc002opu.1	+	1	102	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.V16I|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	16					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGGCTCTCGTCTGTCTGCT	0.577													A	41622139	G	A	41622139	3	1	274	1	0	0	0	0	1	0	0	0	4171	1145	40	1	48	1	CYP2F1	19	41622139	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	7955720	41622139	17506844	101	19303											
NLRP8	126205	broad.mit.edu	37	19	56477731	56477731	+	Missense_Mutation	SNP	G	G	A	rs142437909	by1000genomes	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:56477731G>A	uc002qmh.3	+	4	2437	c.2366G>A	c.(2365-2367)cGt>cAt	p.R789H	NLRP8_uc010etg.3_Missense_Mutation_p.R789H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	789						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCCGGTGCCGTCTGCAGTGT	0.547													A	56477731	G	A	56477731	3	1	274	1	0	0	0	0	1	0	0	0	10483	1145	40	1	2384	1	NLRP8	19	56477731	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	14855592	56477731	2651252	102	19304											
R3HDML	140902	broad.mit.edu	37	20	42965819	42965819	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr20:42965819G>A	uc002xls.1	+	0	194	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	8						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCAGCACCGTGGGCCTGGC	0.647													A	42965819	G	A	42965819	3	1	274	1	0	0	0	0	1	0	0	0	12889	1145	40	1	24	1	R3HDML	20	42965819	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		42965819	20059701	103	19305											
SLC17A9	63910	broad.mit.edu	37	20	61595026	61595026	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr20:61595026C>T	uc002yea.4	+	6	1000	c.816C>T	c.(814-816)gaC>gaT	p.D272D	SLC17A9_uc002ydz.4_Silent_p.D266D|SLC17A9_uc011aap.1_Silent_p.D292D	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	272					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTTCCCCGACGCCAAGGTGA	0.667													T	61595026	C	T	61595026	2	4	274	1	0	0	0	0	0	0	0	1	14424	535	19	1		1	SLC17A9	20	61595026	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	18629207	61595026	1430494	104	19306											
PWP2	5822	broad.mit.edu	37	21	45545899	45545899	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr21:45545899T>C	uc002zeb.3	+	15	2063	c.1973T>C	c.(1972-1974)tTg>tCg	p.L658S		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	658						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAGGAATTTTTGAACCGAAGA	0.537													C	45545899	T	C	45545899	3	2	274	1	0	0	0	0	1	0	0	0	12844	1821	63	4	2035	4	PWP2	21	45545899	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		45545899	2583996	105	19307											
ZNF280B	140883	broad.mit.edu	37	22	22843649	22843649	+	Silent	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:22843649G>A	uc002zwc.1	-	3	851	c.75C>T	c.(73-75)gaC>gaT	p.D25D	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Silent_p.D25D	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CAGCATCTTCGTCATCTACTT	0.378													A	22843649	G	A	22843649	2	1	274	1	0	0	0	0	0	0	0	1	17812	1136	40	1		1	ZNF280B	22	22843649	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08		22843649	28460917	106	19308											
SCUBE1	80274	broad.mit.edu	37	22	43603579	43603579	+	Silent	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:43603579C>T	uc003bdt.2	-	20	2902	c.2775G>A	c.(2773-2775)ggG>ggA	p.G925G		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	925					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGTACAGGCGCCCATCGCGCA	0.597													T	43603579	C	T	43603579	2	4	274	1	0	0	0	0	0	0	0	1	13944	726	26	3		3	SCUBE1	22	43603579	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	20759930	43603579	7700987	107	19309											
MOV10L1	54456	broad.mit.edu	37	22	50588117	50588117	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:50588117G>A	uc003bjj.3	+	19	2784	c.2701G>A	c.(2701-2703)Ggg>Agg	p.G901R	MOV10L1_uc003bjk.4_Missense_Mutation_p.G901R|MOV10L1_uc011arp.2_Missense_Mutation_p.G881R|MOV10L1_uc003bjl.3_Missense_Mutation_p.G28R|MOV10L1_uc003bjm.1_5'UTR	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	901					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATTCCTCTGGGGCTGATGTC	0.562											OREG0026674	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50588117	G	A	50588117	3	1	274	1	0	0	0	0	1	0	0	0	9719	1232	43	3	2832	3	MOV10L1	22	50588117	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	6984538	50588117	716449	108	19310											
KDM6A	7403	broad.mit.edu	37	X	44929255	44929255	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:44929255G>A	uc011mkz.2	+	17	2886	c.2511G>A	c.(2509-2511)atG>atA	p.M837I	KDM6A_uc022bvi.1_Missense_Mutation_p.M455I|KDM6A_uc010nhk.2_Missense_Mutation_p.M751I|KDM6A_uc004dge.4_Missense_Mutation_p.M785I|KDM6A_uc011mla.2_Missense_Mutation_p.M740I|KDM6A_uc011mlb.2_Missense_Mutation_p.M792I|KDM6A_uc011mlc.2_Missense_Mutation_p.M489I|KDM6A_uc022bvj.1_Missense_Mutation_p.M706I|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.M424I	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	785					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCTTGTTGATGGGAAAAGCCA	0.448			"D, N, F, S"		"renal, oesophageal SCC, MM"								A	44929255	G	A	44929255	3	1	274	1	0	0	0	0	1	0	0	0	8137	1348	47	3	2421	3	KDM6A	23	44929255	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		44929255	110341305	109	19311											
IL1RAPL2	26280	broad.mit.edu	37	X	105011554	105011554	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:105011554C>T	uc004elz.1	+	10	2717	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	654					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACAGCTACCCCTTAATAAC	0.448													T	105011554	C	T	105011554	3	4	274	1	0	0	0	0	1	0	0	0	7662	623	22	3	1999	3	IL1RAPL2	23	105011554	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	60082299	105011554	50259006	110	19312											
MAGEC2	51438	broad.mit.edu	37	X	141290669	141290669	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:141290669C>T	uc022cfj.1	-	0	1105	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	MAGEC2_uc004fbu.2_Missense_Mutation_p.V369I	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	369						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAAGGAGACGTTGCTGGAC	0.502										HNSCC(46;0.14)			T	141290669	C	T	141290669	3	4	274	1	0	0	0	0	1	0	0	0	9181	536	19	1	20	1	MAGEC2	23	141290669	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	36279115	141290669	13979891	111	19313											
CHD5	26038	broad.mit.edu	37	1	6209438	6209438	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:6209438C>T	uc001amb.2	-	7	1140	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	343					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CACAGTAATCCTGGTGGTCTG	0.577													T	6209438	C	T	6209438	2	4	275	1	0	0	0	0	0	0	0	1	3328	680	24	3		3	CHD5	1	6209438	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08		6209438	243041183	1	19314											
MACF1	23499	broad.mit.edu	37	1	39763324	39763324	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:39763324C>G	uc021olt.1	+	19	2455	c.2403C>G	c.(2401-2403)ttC>ttG	p.F801L	MACF1_uc021ols.1_Missense_Mutation_p.F801L|MACF1_uc001cdc.2_Missense_Mutation_p.F801L|MACF1_uc001cda.1_Missense_Mutation_p.F709L|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	801					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			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)			TGGAGTCATTCTTGAGGAACC	0.443													G	39763324	C	G	39763324	3	3	275	1	0	0	0	0	1	0	0	0	9144	912	32	5	2481	5	MACF1	1	39763324	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	33553886	39763324	209487297	2	19315											
MPL	4352	broad.mit.edu	37	1	43812465	43812465	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:43812465C>T	uc001ciw.3	+	7	1213	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	MPL_uc001civ.3_Missense_Mutation_p.R390C|MPL_uc009vwr.3_Missense_Mutation_p.R383C	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	390					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCTGTAGTGCGCCTCCCCAC	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						T	43812465	C	T	43812465	3	4	275	1	0	0	0	0	1	0	0	0	9730	768	27	1	1198	1	MPL	1	43812465	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	4049141	43812465	205438156	3	19316											
EPS8L3	79574	broad.mit.edu	37	1	110293381	110293381	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:110293381G>A	uc001dyr.2	-	17	1896	c.1671C>T	c.(1669-1671)agC>agT	p.S557S	EPS8L3_uc001dys.2_Silent_p.S527S|EPS8L3_uc001dyq.2_Silent_p.S558S|EPS8L3_uc009wfm.2_Silent_p.S494S	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	557						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GAAGTAGCTGGCTCCCCGTCA	0.607													A	110293381	G	A	110293381	2	1	275	1	0	0	0	0	0	0	0	1	5197	1194	42	3		3	EPS8L3	1	110293381	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08	66480916	110293381	138957240	4	19317											
IGSF3	3321	broad.mit.edu	37	1	117150591	117150591	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:117150591T>A	uc001egq.1	-	4	1900	c.1195A>T	c.(1195-1197)Aac>Tac	p.N399Y	IGSF3_uc001egr.1_Missense_Mutation_p.N399Y|IGSF3_uc001egs.1_Missense_Mutation_p.N72Y	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	399						integral to membrane				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)		ATGGGGATGTTCTTGGGACGC	0.517													A	117150591	T	A	117150591	3	1	275	1	0	0	0	0	1	0	0	0	7601	1783	62	5	2481	5	IGSF3	1	117150591	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	6857210	117150591	132100030	5	19318											
LCE1F	353137	broad.mit.edu	37	1	152749094	152749094	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:152749094C>T	uc010pdv.2	+	0	247	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	83	Poly-Arg.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701													T	152749094	C	T	152749094	3	4	275	1	0	0	0	0	1	0	0	0	8664	768	27	1	249	1	LCE1F	1	152749094	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	35598503	152749094	96501527	6	19319											
OR10X1	128367	broad.mit.edu	37	1	158549258	158549258	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:158549258G>A	uc010pin.2	-	0	432	c.432C>T	c.(430-432)aaC>aaT	p.N144N		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATCTTAGAGGGTTACAGATGG	0.463													A	158549258	G	A	158549258	2	1	275	1	0	0	0	0	0	0	0	1	10922	1252	44	3		3	OR10X1	1	158549258	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08	5800164	158549258	90701363	7	19320											
TNFSF18	8995	broad.mit.edu	37	1	173010834	173010834	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:173010834C>T	uc001giu.2	-	2	274	c.273G>A	c.(271-273)tgG>tgA	p.W91*		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	91					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATGCCATTTGCCATTTTGAGG	0.353													T	173010834	C	T	173010834	4	4	275	1	0	0	0	0	0	1	0	0	16306	740	26	3	330	3	TNFSF18	1	173010834	Nonsense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	14461576	173010834	76239787	8	19321											
RASAL2	9462	broad.mit.edu	37	1	178427055	178427055	+	Silent	SNP	A	A	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:178427055A>T	uc001glq.3	+	13	3392	c.2628A>T	c.(2626-2628)ggA>ggT	p.G876G	RASAL2_uc001glr.3_Silent_p.G735G|RASAL2_uc009wxc.3_Silent_p.G249G	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	735					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCTTGACCGGAAGCCAGCTTT	0.572													T	178427055	A	T	178427055	2	4	275	1	0	0	0	0	0	0	0	1	13064	233	9	5		5	RASAL2	1	178427055	Silent	SNP	A	TCGA-76-6657-01A-11D-1845-08	5416221	178427055	70823566	9	19322											
OR2T3	343173	broad.mit.edu	37	1	248636975	248636975	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:248636975C>T	uc001iel.1	+	0	324	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107L(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)			AGATGTTCTTCTACCTGACCC	0.537													T	248636975	C	T	248636975	2	4	275	1	0	0	0	0	0	0	0	1	11023	912	32	3		3	OR2T3	1	248636975	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	70209920	248636975	613646	10	19323											
MSH6	2956	broad.mit.edu	37	2	48023188	48023190	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:48023188_48023190delGAA	uc002rwd.4	+	2	765_767	c.613_615delGAA	c.(613-615)gaadel	p.E207del	MSH6_uc002rwc.2_In_Frame_Del_p.E207del|MSH6_uc010fbj.3_Intron|MSH6_uc010yoj.2_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	207	Poly-Glu.				determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCAGAAGAGGAAGAAGAGATGG	0.438			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				-	48023190	GAA	-	48023188	7	5	275	1	0	1	0	1	0	0	0	0	9874	1175	41	0	623	0	MSH6	2	48023188	In_Frame_Del	DEL	GAA	TCGA-76-6657-01A-11D-1845-08		48023188	195176185	11	19324											
SCN3A	6328	broad.mit.edu	37	2	165952115	165952115	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:165952115A>G	uc002ucx.3	-	24	4829	c.4337T>C	c.(4336-4338)tTa>tCa	p.L1446S	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.L1397S|SCN3A_uc002ucz.3_Missense_Mutation_p.L1397S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1446						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GACAAAGTATAAATACATGTA	0.269													G	165952115	A	G	165952115	3	3	275	1	0	0	0	0	1	0	0	0	13918	372	13	4	1681	4	SCN3A	2	165952115	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	117928927	165952115	77247258	12	19325											
METTL5	29081	broad.mit.edu	37	2	170677785	170677785	+	Splice_Site	SNP	T	T	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:170677785T>C	uc002ufn.3	-	3	471	c.225_splice	c.e3-1	p.G75_splice	METTL5_uc002ufo.3_Splice_Site_p.G75_splice|METTL5_uc002ufp.3_Splice_Site_p.G75_splice	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN	Homo sapiens methyltransferase like 5 (METTL5), mRNA.	75							methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						ACACACAACCTATAAATACAA	0.303													C	170677785	T	C	170677785	5	2	275	1	0	0	0	0	0	0	1	0	9503	1536	53	4	426	4	METTL5	2	170677785	Splice_Site	SNP	T	TCGA-76-6657-01A-11D-1845-08	4725670	170677785	72521588	13	19326											
CHRNG	1146	broad.mit.edu	37	2	233404776	233404776	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:233404776G>A	uc002vsx.1	+	1	151	c.130G>A	c.(130-132)Gcg>Acg	p.A44T	CHRNG_uc010fyd.3_Missense_Mutation_p.A44T|CHRNG_uc010fye.1_Missense_Mutation_p.A44T	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	44					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCTGCGGCCCGCGGAACGAGA	0.632													A	233404776	G	A	233404776	3	1	275	1	0	0	0	0	1	0	0	0	3396	1087	38	1	136	1	CHRNG	2	233404776	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	62726991	233404776	9794597	14	19327											
UGT2A1	10941	broad.mit.edu	37	4	70455172	70455172	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:70455172G>A	uc011caq.2	-	6	2116	c.2000C>T	c.(1999-2001)aCg>aTg	p.T667M	UGT2A1_uc010ihu.3_Missense_Mutation_p.T501M|UGT2A1_uc003hem.4_Missense_Mutation_p.T501M|UGT2A1_uc010ihs.3_Missense_Mutation_p.T510M|UGT2A1_uc021xox.1_Missense_Mutation_p.T466M|UGT2A1_uc010iht.3_Missense_Mutation_p.T457M	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	501					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAATATAGCCGTTGTCACACA	0.413													A	70455172	G	A	70455172	3	1	275	1	0	0	0	0	1	0	0	0	16950	1145	40	1	85	1	UGT2A1	4	70455172	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		70455172	120699104	15	19328											
FGA	2243	broad.mit.edu	37	4	155507683	155507683	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:155507683A>T	uc003iod.1	-	4	956	c.898T>A	c.(898-900)Tct>Act	p.S300T	FGA_uc003ioe.1_Missense_Mutation_p.S300T|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	300					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGGTCCAGAGCTCCCAGAG	0.562													T	155507683	A	T	155507683	3	4	275	1	0	0	0	0	1	0	0	0	5830	304	11	5	1754	5	FGA	4	155507683	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	85052511	155507683	35646593	16	19329											
STOX2	56977	broad.mit.edu	37	4	184938294	184938294	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:184938294C>T	uc003ivz.1	+	3	4073	c.2638C>T	c.(2638-2640)Cgt>Tgt	p.R880C	AK001394_uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	880					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAGTAACCGTCGTCAGAACCC	0.502													T	184938294	C	T	184938294	3	4	275	1	0	0	0	0	1	0	0	0	15319	884	31	2	2652	2	STOX2	4	184938294	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	29430611	184938294	6215982	17	19330											
DNAH5	1767	broad.mit.edu	37	5	13885213	13885213	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:13885213G>A	uc003jfd.2	-	18	2910	c.2868C>T	c.(2866-2868)cgC>cgT	p.R956R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	956	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R956R(4)		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)					AGAGTAACTCGCGGGCTTCTT	0.443									Kartagener syndrome				A	13885213	G	A	13885213	2	1	275	1	0	0	0	0	0	0	0	1	4604	1074	38	1		1	DNAH5	5	13885213	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08		13885213	167030047	18	19331											
PIK3R1	5295	broad.mit.edu	37	5	67522740	67522741	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:67522740_67522741insA	uc003jva.3	+	1	817_818	c.237_238insA	c.(235-240)aggaaafs	p.R79fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	79	SH3.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ATATTGGAAGGAAAAAAATCTC	0.49			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67522741	-	A	67522740	7	5	275	1	0	1	1	0	0	0	0	0	11918	1165	41	0	239	0	PIK3R1	5	67522740	Frame_Shift_Ins	INS	-	TCGA-76-6657-01A-11D-1845-08	53637527	67522740	113392520	19	19332											
GPR98	84059	broad.mit.edu	37	5	89992775	89992775	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:89992775T>C	uc003kju.3	+	33	8063	c.7967T>C	c.(7966-7968)aTt>aCt	p.I2656T	GPR98_uc003kjt.3_Missense_Mutation_p.I362T|GPR98_uc003kjv.3_Missense_Mutation_p.I256T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2656	Calx-beta 18.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGACAGTCATTTTAACCATC	0.368													C	89992775	T	C	89992775	3	2	275	1	0	0	0	0	1	0	0	0	6721	1493	52	4	8101	4	GPR98	5	89992775	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	22470035	89992775	90922485	20	19333											
ARAP3	64411	broad.mit.edu	37	5	141049346	141049346	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:141049346C>T	uc003llm.3	-	15	2360	c.2282G>A	c.(2281-2283)gGg>gAg	p.G761E	ARAP3_uc011dbe.2_Missense_Mutation_p.G423E|ARAP3_uc003lln.3_Missense_Mutation_p.G663E	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	761					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GATCCTCCCCCCAGCGAGGAT	0.587													T	141049346	C	T	141049346	3	4	275	1	0	0	0	0	1	0	0	0	840	623	22	3	2424	3	ARAP3	5	141049346	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	51056571	141049346	39865914	21	19334											
FAT2	2196	broad.mit.edu	37	5	150920247	150920247	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:150920247G>A	uc003lue.4	-	9	8933	c.8920C>T	c.(8920-8922)Cgc>Tgc	p.R2974C		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2974	Cadherin 26.				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)			GTATGCTCGCGGTCCAGGGTC	0.527													A	150920247	G	A	150920247	3	1	275	1	0	0	0	0	1	0	0	0	5690	1116	39	2	4185	2	FAT2	5	150920247	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	9870901	150920247	29995013	22	19335											
C6orf221	154288	broad.mit.edu	37	6	74073351	74073351	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:74073351G>A	uc003pgt.4	+	2	475	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	141										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						ATAGAAGTCCGGGAGGCCGGG	0.657													A	74073351	G	A	74073351	3	1	275	1	0	0	0	0	1	0	0	0	2355	1116	39	2	432	2	C6orf221	6	74073351	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		74073351	97041716	23	19336											
FYN	2534	broad.mit.edu	37	6	112015863	112015863	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:112015863T>C	uc003pvj.3	-	9	1427	c.1087A>G	c.(1087-1089)Aaa>Gaa	p.K363E	FYN_uc003pvi.3_Missense_Mutation_p.K308E|FYN_uc003pvk.3_Missense_Mutation_p.K363E|FYN_uc003pvh.3_Missense_Mutation_p.K360E|FYN_uc010kdy.1_Missense_Mutation_p.K54E	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	363	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTTGGTAATTTCAGAGCTCTT	0.383													C	112015863	T	C	112015863	3	2	275	1	0	0	0	0	1	0	0	0	6126	1792	62	4	542	4	FYN	6	112015863	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	37942512	112015863	59099204	24	19337											
CNKSR3	154043	broad.mit.edu	37	6	154831213	154831213	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:154831213C>T	uc021zhc.1	-	0	541	c.36G>A	c.(34-36)gtG>gtA	p.V12V	CNKSR3_uc003qpy.3_Silent_p.V12V	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	12	SAM.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCAGTCCACCACTTGTTTGG	0.652													T	154831213	C	T	154831213	2	4	275	1	0	0	0	0	0	0	0	1	3608	581	21	3		3	CNKSR3	6	154831213	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	42815350	154831213	16283854	25	19338											
SUMF2	25870	broad.mit.edu	37	7	56144570	56144570	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr7:56144570C>T	uc011kcw.2	+	5	667	c.636C>T	c.(634-636)acC>acT	p.T212T	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Silent_p.T105T|SUMF2_uc003trv.3_Silent_p.T212T|SUMF2_uc011kcy.2_Silent_p.T197T|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_5'UTR|SUMF2_uc011kcx.2_Intron	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	193						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAACCGCACCAACCTGTGGC	0.567													T	56144570	C	T	56144570	2	4	275	1	0	0	0	0	0	0	0	1	15383	581	21	3		3	SUMF2	7	56144570	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08		56144570	102994093	26	19339											
CACNA2D1	781	broad.mit.edu	37	7	81611940	81611940	+	Missense_Mutation	SNP	G	G	A	rs149510838		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr7:81611940G>A	uc003uhr.1	-	23	2154	c.1898C>T	c.(1897-1899)tCg>tTg	p.S633L		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	645						voltage-gated calcium channel complex	metal ion binding			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)	CAGGGTTTCCGAATCTGCAAA	0.333													A	81611940	G	A	81611940	3	1	275	1	0	0	0	0	1	0	0	0	2548	1059	37	2	1441	2	CACNA2D1	7	81611940	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	25467370	81611940	77526723	27	19340											
UBR5	51366	broad.mit.edu	37	8	103340098	103340099	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:103340098_103340099insA	uc003ykr.2	-	11	1807_1808	c.1352_1353insT	c.(1351-1353)ttafs	p.L451fs	UBR5_uc003yks.2_Frame_Shift_Ins_p.L451fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	451					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCACAGAACTTAAAGTTTCATC	0.376													A	103340099	-	A	103340098	7	5	275	1	0	1	1	0	0	0	0	0	16902	1751	61	0	7238	0	UBR5	8	103340098	Frame_Shift_Ins	INS	-	TCGA-76-6657-01A-11D-1845-08		103340098	43023924	28	19341											
CTHRC1	115908	broad.mit.edu	37	8	104388028	104388028	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:104388028C>T	uc003ylk.3	+	1	312	c.213C>T	c.(211-213)gcC>gcT	p.A71A	CTHRC1_uc011lhq.1_Silent_p.A71A	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	71	Collagen-like.					collagen		p.A71A(2)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GCCCTGGGGCCAATGGCATTC	0.522													T	104388028	C	T	104388028	2	4	275	1	0	0	0	0	0	0	0	1	4010	581	21	3		3	CTHRC1	8	104388028	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	1047930	104388028	41975994	29	19342											
EPPK1	83481	broad.mit.edu	37	8	144940918	144940918	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:144940918G>T	uc003zaa.1	-	0	6517	c.6504C>A	c.(6502-6504)agC>agA	p.S2168R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2168						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGTTTGTTGCTGGTTTCCT	0.507													T	144940918	G	T	144940918	3	4	275	1	0	0	0	0	1	0	0	0	5190	1310	46	5	762	5	EPPK1	8	144940918	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	40552890	144940918	1423104	30	19343											
PTEN	5728	broad.mit.edu	37	10	89692852	89692856	+	Frame_Shift_Del	DEL	AAGTG	AAGTG	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:89692852_89692856delAAGTG	uc001kfb.3	+	4	1368_1372	c.336_340delAAGTG	c.(334-342)ctaagtgaafs	p.L112fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	112	Phosphatase tensin-type.		L -> P (in CD and LDD; loss of phosphatase activity towards Ins(1,3,4,5)P4).|L -> R (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L112V(5)|p.?(5)|p.R55fs*1(5)|p.W111R(3)|p.L112fs*3(2)|p.L112P(2)|p.E114*(2)|p.Y27fs*1(2)|p.S113fs*9(2)|p.S113R(2)|p.W111*(2)|p.S113fs*20(2)|p.Y27_N212>Y(2)|p.L112Q(2)|p.L112R(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCAATGGCTAAGTGAAGATGACAA	0.376		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89692856	AAGTG	-	89692852	7	5	275	1	0	1	0	1	0	0	0	0	12738	349	13	0	354	0	PTEN	10	89692852	Frame_Shift_Del	DEL	AAGTG	TCGA-76-6657-01A-11D-1845-08		89692852	45841895	31	19344											
CYP2C8	1558	broad.mit.edu	37	10	96827103	96827103	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:96827103T>G	uc001kkb.3	-	2	438	c.343A>C	c.(343-345)Agc>Cgc	p.S115R	CYP2C8_uc010qoa.2_Missense_Mutation_p.S45R|CYP2C8_uc010qoc.2_Missense_Mutation_p.S13R|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.S29R|CYP2C8_uc021pwl.1_Missense_Mutation_p.S45R|CYP2C8_uc010qod.1_Missense_Mutation_p.S29R	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	115					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTCCATTGCTGGAAATGATT	0.483													G	96827103	T	G	96827103	3	3	275	1	0	0	0	0	1	0	0	0	4167	1580	55	5	1157	5	CYP2C8	10	96827103	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	7134251	96827103	38707644	32	19345											
DUSP5	1847	broad.mit.edu	37	10	112269798	112269798	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:112269798G>A	uc001kzd.3	+	3	1024	c.769G>A	c.(769-771)Ggc>Agc	p.G257S		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	257	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGAAAAGGGAGGCAAGGTCCT	0.512													A	112269798	G	A	112269798	3	1	275	1	0	0	0	0	1	0	0	0	4828	1000	35	3	783	3	DUSP5	10	112269798	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	15442695	112269798	23264949	33	19346											
HABP2	3026	broad.mit.edu	37	10	115341658	115341658	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:115341658C>A	uc001lai.4	+	8	965	c.862C>A	c.(862-864)Ccc>Acc	p.P288T	HABP2_uc021pyr.1_Missense_Mutation_p.P262T|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	288					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AGAGGAAAGCCCCACTGAGCC	0.507													A	115341658	C	A	115341658	3	1	275	1	0	0	0	0	1	0	0	0	6938	623	22	5	896	5	HABP2	10	115341658	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	3071860	115341658	20193089	34	19347											
OR5B3	441608	broad.mit.edu	37	11	58170350	58170350	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:58170350T>A	uc010rkf.2	-	0	533	c.533A>T	c.(532-534)gAt>gTt	p.D178V		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGGAATATCACAGAAAAA	0.423													A	58170350	T	A	58170350	3	1	275	1	0	0	0	0	1	0	0	0	11152	1435	50	5	413	5	OR5B3	11	58170350	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08		58170350	76836166	35	19348											
CASP1	834	broad.mit.edu	37	11	104899923	104899923	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:104899923C>A	uc001pim.4	-	6	934	c.934G>T	c.(934-936)Gag>Tag	p.E312*	CASP1_uc001pig.3_Nonsense_Mutation_p.E219*|CASP1_uc021qpq.1_Nonsense_Mutation_p.E291*|CASP1_uc021qpr.1_Intron|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Nonsense_Mutation_p.E312*|CASP1_uc021qpt.1_Nonsense_Mutation_p.E219*|CASP1_uc010rve.2_Nonsense_Mutation_p.E312*|CASP1_uc010rvf.2_Nonsense_Mutation_p.E219*|CASP1_uc010rvg.2_Nonsense_Mutation_p.E291*|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Nonsense_Mutation_p.E291*|CASP1_uc021qpu.1_Nonsense_Mutation_p.E219*|CASP1_uc021qpv.1_Nonsense_Mutation_p.E291*|CASP1_uc021qpw.1_Intron|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Nonsense_Mutation_p.E312*|CASP1_uc009yxj.3_Nonsense_Mutation_p.E157*|CASP1_uc010rvk.2_Nonsense_Mutation_p.E273*	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	312					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCCTCAAACTCTTCTGTAGTT	0.408													A	104899923	C	A	104899923	4	1	275	1	0	0	0	0	0	1	0	0	2668	922	32	5	292	5	CASP1	11	104899923	Nonsense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	46729573	104899923	30106593	36	19349											
OR8D1	283159	broad.mit.edu	37	11	124179842	124179842	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:124179842G>A	uc010sag.2	-	0	821	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAACACAGAGGACACCTTCTC	0.463													A	124179842	G	A	124179842	3	1	275	1	0	0	0	0	1	0	0	0	11231	1174	41	3	108	3	OR8D1	11	124179842	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	19279919	124179842	10826674	37	19350											
OR8B4	283162	broad.mit.edu	37	11	124294437	124294439	+	In_Frame_Del	DEL	ACT	ACT	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:124294437_124294439delACT	uc010sak.2	-	0	329_331	c.329_331delAGT	c.(328-333)gagtgc>ggc	p.110_111EC>G		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S109F(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AACACATAGCACTCAGAATTGAC	0.433													-	124294439	ACT	-	124294437	7	5	275	1	0	1	0	1	0	0	0	0	11229	159	6	0	600	0	OR8B4	11	124294437	In_Frame_Del	DEL	ACT	TCGA-76-6657-01A-11D-1845-08	114595	124294437	10712079	38	19351											
DYRK4	8798	broad.mit.edu	37	12	4708241	4708241	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:4708241G>A	uc009zeh.1	+	8	995	c.953G>A	c.(952-954)aGt>aAt	p.S318N	DYRK4_uc001qmx.3_Missense_Mutation_p.S203N|DYRK4_uc001qmy.2_Missense_Mutation_p.S203N|DYRK4_uc021qtq.1_Missense_Mutation_p.S57N	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	203	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAAGGCTTCAGTCTGTCCATA	0.413													A	4708241	G	A	4708241	3	1	275	1	0	0	0	0	1	0	0	0	4858	1029	36	3	626	3	DYRK4	12	4708241	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		4708241	129143654	39	19352											
PIK3C2G	5288	broad.mit.edu	37	12	18658296	18658296	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:18658296G>A	uc001rdt.3	+	22	3217	c.3101G>A	c.(3100-3102)cGt>cAt	p.R1034H	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1075H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R853H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1034	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R1034H(3)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTATGTGACCGTCACAATGAT	0.398													A	18658296	G	A	18658296	3	1	275	1	0	0	0	0	1	0	0	0	11911	1145	40	1	3187	1	PIK3C2G	12	18658296	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	13950055	18658296	115193599	40	19353											
ALX1	8092	broad.mit.edu	37	12	85695206	85695206	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:85695206C>T	uc001tae.4	+	3	938	c.934C>T	c.(934-936)Cga>Tga	p.R312*		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	312					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R312Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CGCAGTTCTTCGAATGAAAGC	0.378													T	85695206	C	T	85695206	4	4	275	1	0	0	0	0	0	1	0	0	556	876	31	2	948	2	ALX1	12	85695206	Nonsense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	67036910	85695206	48156689	41	19354											
ACACB	32	broad.mit.edu	37	12	109687832	109687832	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:109687832G>A	uc001tob.3	+	40	5832	c.5713G>A	c.(5713-5715)Gtg>Atg	p.V1905M	ACACB_uc001toc.3_Missense_Mutation_p.V1905M|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.V571M	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1905	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGCTTGGGCGTGGAGAATCT	0.493													A	109687832	G	A	109687832	3	1	275	1	0	0	0	0	1	0	0	0	107	1145	40	1	5871	1	ACACB	12	109687832	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	23992626	109687832	24164063	42	19355											
GCN1L1	10985	broad.mit.edu	37	12	120582480	120582480	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:120582480G>A	uc001txo.3	-	40	5328	c.5315C>T	c.(5314-5316)aCt>aTt	p.T1772I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1772					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACATAAGGAGTAAACTTGTC	0.512													A	120582480	G	A	120582480	3	1	275	1	0	0	0	0	1	0	0	0	6299	1029	36	3	2772	3	GCN1L1	12	120582480	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	10894648	120582480	13269415	43	19356											
ZC3H13	23091	broad.mit.edu	37	13	46549530	46549530	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr13:46549530G>A	uc010tfw.1	-	10	2362	c.2356C>T	c.(2356-2358)Cgc>Tgc	p.R786C	ZC3H13_uc001vas.1_Missense_Mutation_p.R786C|ZC3H13_uc001vat.1_Missense_Mutation_p.R786C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	786	Arg/Glu-rich.						nucleic acid binding|zinc ion binding	p.R786H(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)		TCCCTTTGGCGTTCTCGTTCT	0.498													A	46549530	G	A	46549530	3	1	275	1	0	0	0	0	1	0	0	0	17562	1145	40	1	2362	1	ZC3H13	13	46549530	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		46549530	68620348	44	19357											
PCID2	55795	broad.mit.edu	37	13	113834511	113834511	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr13:113834511T>A	uc021rmt.1	-	10	1064	c.983A>T	c.(982-984)tAt>tTt	p.Y328F	PCID2_uc001vtb.2_Missense_Mutation_p.Y107F|PCID2_uc021rmq.1_Missense_Mutation_p.Y274F|PCID2_uc021rmr.1_Missense_Mutation_p.Y274F|PCID2_uc021rms.1_Missense_Mutation_p.Y274F	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	274	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCAGGTGATACTTTTTCAG	0.413													A	113834511	T	A	113834511	3	1	275	1	0	0	0	0	1	0	0	0	11579	1406	49	5	394	5	PCID2	13	113834511	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	67284981	113834511	1335367	45	19358											
OR4E2	26686	broad.mit.edu	37	14	22134222	22134222	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr14:22134222C>T	uc010tmd.2	+	0	926	c.926C>T	c.(925-927)aCg>aTg	p.T309M		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T309T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTTTTTCACGAAATCATAT	0.393													T	22134222	C	T	22134222	3	4	275	1	0	0	0	0	1	0	0	0	11060	536	19	1	928	1	OR4E2	14	22134222	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08		22134222	85215318	46	19359											
JAG2	3714	broad.mit.edu	37	14	105622280	105622280	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr14:105622280C>T	uc001yqg.3	-	3	926	c.522G>A	c.(520-522)ccG>ccA	p.P174P	JAG2_uc001yqh.3_Silent_p.P174P	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	174					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCGGTCCTCCGGGTTGATCA	0.652													T	105622280	C	T	105622280	2	4	275	1	0	0	0	0	0	0	0	1	7935	639	23	2		2	JAG2	14	105622280	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	83488058	105622280	1727260	47	19360											
UNC13C	440279	broad.mit.edu	37	15	54786821	54786821	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:54786821G>A	uc021smr.1	+	17	4943	c.4943G>A	c.(4942-4944)cGg>cAg	p.R1648Q	UNC13C_uc021sms.1_Missense_Mutation_p.R1650Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1650	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAAATCAGCGGTTATGCAAG	0.308													A	54786821	G	A	54786821	3	1	275	1	0	0	0	0	1	0	0	0	16983	1116	39	2	5019	2	UNC13C	15	54786821	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		54786821	47744571	48	19361											
CSK	1445	broad.mit.edu	37	15	75092831	75092831	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:75092831G>A	uc010bkb.1	+	6	724	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CSK_uc002ays.2_Missense_Mutation_p.D181N|CSK_uc010bkc.1_5'UTR	NM_001127190	NP_004374	P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.	181					blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GGCGGCCCAGGATGAGTTCTA	0.632											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	75092831	G	A	75092831	3	1	275	1	0	0	0	0	1	0	0	0	3943	1174	41	3	559	3	CSK	15	75092831	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	20306010	75092831	27438561	49	19362											
ADAMTS7	11173	broad.mit.edu	37	15	79057006	79057006	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:79057006C>T	uc002bej.4	-	19	4521	c.4310G>A	c.(4309-4311)cGc>cAc	p.R1437H		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1437	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGAGCTACAGCGCACCGGCCT	0.726													T	79057006	C	T	79057006	3	4	275	1	0	0	0	0	1	0	0	0	271	768	27	1	770	1	ADAMTS7	15	79057006	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	3964175	79057006	23474386	50	19363											
ALPK3	57538	broad.mit.edu	37	15	85383056	85383056	+	Silent	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:85383056C>T	uc002ble.3	+	4	1319	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	384					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)			AGCGCTGGTTCGCCAAGTTGA	0.617													T	85383056	C	T	85383056	2	4	275	1	0	0	0	0	0	0	0	1	546	883	31	2		2	ALPK3	15	85383056	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	6326050	85383056	17148336	51	19364											
BLM	641	broad.mit.edu	37	15	91341566	91341566	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:91341566G>A	uc002bpr.3	+	17	3455	c.3358_splice	c.e17+1	p.G1120_splice	BLM_uc010uqh.2_Splice_Site_p.G1120_splice|BLM_uc010uqi.2_Splice_Site_p.G745_splice|BLM_uc010bnx.3_Splice_Site_p.E1120_splice	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	1120					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			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)			ACATTTTCTTGGGTAAGTCAT	0.294			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				A	91341566	G	A	91341566	2	1	275	1	0	0	0	0	0	0	0	1	1445	1362	47	3		3	BLM	15	91341566	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08	5958510	91341566	11189826	52	19365											
MEF2A	4205	broad.mit.edu	37	15	100230604	100230604	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:100230604C>G	uc010urw.2	+	6	1194	c.835C>G	c.(835-837)Cct>Gct	p.P279A	MEF2A_uc002bve.3_Missense_Mutation_p.P277A|MEF2A_uc002bvg.3_Missense_Mutation_p.P277A|MEF2A_uc010urv.2_Missense_Mutation_p.P209A|MEF2A_uc010bos.3_Missense_Mutation_p.P277A|MEF2A_uc002bvf.3_Missense_Mutation_p.P279A|MEF2A_uc002bvi.3_Missense_Mutation_p.P277A|MEF2A_uc010bot.3_Missense_Mutation_p.P209A	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	279	Required for interaction with MAPKs.		P -> L.		apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGTCATCCCCCCTTCAAGCAA	0.428													G	100230604	C	G	100230604	3	3	275	1	0	0	0	0	1	0	0	0	9455	623	22	5	993	5	MEF2A	15	100230604	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	8889038	100230604	2300788	53	19366											
ACSM2A	123876	broad.mit.edu	37	16	20494409	20494409	+	Silent	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr16:20494409G>A	uc010bwe.3	+	13	1778	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S	ACSM2A_uc002dhf.4_Silent_p.S513S|ACSM2A_uc002dhg.4_Silent_p.S513S|ACSM2A_uc010vay.2_Silent_p.S434S|ACSM2A_uc002dhh.4_Silent_p.S143S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	513			S -> L (in dbSNP:rs1133607).		fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.S513P(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCCTGGCCTCGCAGTTCCTGT	0.498													A	20494409	G	A	20494409	2	1	275	1	0	0	0	0	0	0	0	1	183	1074	38	1		1	ACSM2A	16	20494409	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08		20494409	69860344	54	19367											
CDH5	1003	broad.mit.edu	37	16	66432371	66432371	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr16:66432371A>C	uc002eom.4	+	9	1654	c.1498A>C	c.(1498-1500)Atc>Ctc	p.I500L		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	500	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GGTCCTGCAGATCTCCGCAAT	0.493													C	66432371	A	C	66432371	3	2	275	1	0	0	0	0	1	0	0	0	3113	333	12	5	1532	5	CDH5	16	66432371	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	45937962	66432371	23922382	55	19368											
NF1	4763	broad.mit.edu	37	17	29556484	29556484	+	Splice_Site	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29556484G>A	uc002hgg.3	+	21	3233	c.2850_splice	c.e21+1	p.Q950_splice	NF1_uc002hgh.3_Splice_Site_p.Q950_splice|NF1_uc010csn.2_Splice_Site_p.Q810_splice|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	950					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAGGACAGGTAAAGTGTTC	0.343			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29556484	G	A	29556484	5	1	275	1	0	0	0	0	0	0	1	0	10356	1275	44	3	2994	3	NF1	17	29556484	Splice_Site	SNP	G	TCGA-76-6657-01A-11D-1845-08		29556484	51638726	56	19369											
NF1	4763	broad.mit.edu	37	17	29683590	29683590	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29683590delT	uc002hgg.3	+	51	8111	c.7728delT	c.(7726-7728)gatfs	p.D2576fs	NF1_uc002hgh.3_Frame_Shift_Del_p.D2555fs|NF1_uc010cso.3_Frame_Shift_Del_p.D764fs|NF1_uc010wbt.1_Frame_Shift_Del_p.D54fs|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2576					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGAAACTGATTATGAAATGG	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29683590	T	-	29683590	7	5	275	1	0	1	0	1	0	0	0	0	10356	1490	52	0	7995	0	NF1	17	29683590	Frame_Shift_Del	DEL	T	TCGA-76-6657-01A-11D-1845-08	127106	29683590	51511620	57	19370											
RAB11FIP4	84440	broad.mit.edu	37	17	29850996	29850997	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29850996_29850997delAC	uc002hgn.1	+	8	1344_1345	c.1115_1116delAC	c.(1114-1116)aacfs	p.N372fs	RAB11FIP4_uc002hgo.2_Frame_Shift_Del_p.N270fs	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	372	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				AAGCAAGAGAACACACAGCTGG	0.599													-	29850997	AC	-	29850996	7	5	275	1	0	1	0	1	0	0	0	0	12896	43	2	0	1149	0	RAB11FIP4	17	29850996	Frame_Shift_Del	DEL	AC	TCGA-76-6657-01A-11D-1845-08	167406	29850996	51344214	58	19371											
ANKRD30B	374860	broad.mit.edu	37	18	14779969	14779969	+	Missense_Mutation	SNP	C	C	G	rs9675365	by1000genomes	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr18:14779969C>G	uc010dlo.2	+	10	1611	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.F477L	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	477			F -> L (in dbSNP:rs9675365).					p.F477L(3)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGATGTTCCCATCAGAAT	0.279													G	14779969	C	G	14779969	3	3	275	1	0	0	0	0	1	0	0	0	659	854	30	5	1473	5	ANKRD30B	18	14779969	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08		14779969	63297279	59	19372											
C19orf21	126353	broad.mit.edu	37	19	757476	757476	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:757476G>A	uc002lpo.3	+	1	613	c.530G>A	c.(529-531)cGg>cAg	p.R177Q		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	177								p.R177R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		GGCCCACCTCGGTCCACGCCC	0.667													A	757476	G	A	757476	3	1	275	1	0	0	0	0	1	0	0	0	1913	1116	39	2	532	2	C19orf21	19	757476	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		757476	58371507	60	19373											
REXO1	57455	broad.mit.edu	37	19	1827011	1827011	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:1827011C>G	uc002lua.4	-	1	1872	c.1777G>C	c.(1777-1779)Gcg>Ccg	p.A593P	REXO1_uc010dsr.1_Missense_Mutation_p.A547P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	593						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		TCCGCCCCCGCGCTggaggtg	0.697													G	1827011	C	G	1827011	3	3	275	1	0	0	0	0	1	0	0	0	13241	768	27	5	1948	5	REXO1	19	1827011	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	1069535	1827011	57301972	61	19374											
FCER2	2208	broad.mit.edu	37	19	7763247	7763247	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:7763247C>T	uc002mhn.3	-	3	402	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	FCER2_uc021unx.1_Missense_Mutation_p.R61Q|FCER2_uc002mhm.2_Missense_Mutation_p.R62Q|FCER2_uc010xjt.2_5'UTR|FCER2_uc010dvo.2_Missense_Mutation_p.R62Q	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	62			R -> W (in dbSNP:rs2228137).		positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CATACCGTTCCGGGCAGCCCT	0.622													T	7763247	C	T	7763247	3	4	275	1	0	0	0	0	1	0	0	0	5776	652	23	2	812	2	FCER2	19	7763247	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	5936236	7763247	51365736	62	19375											
FBN3	84467	broad.mit.edu	37	19	8183822	8183822	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:8183822G>A	uc002mjf.3	-	24	3313	c.3296C>T	c.(3295-3297)cCc>cTc	p.P1099L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1099	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.C1098C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ATGCCCAGGGGGACACTGGCA	0.592													A	8183822	G	A	8183822	3	1	275	1	0	0	0	0	1	0	0	0	5704	1232	43	3	5289	3	FBN3	19	8183822	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	420575	8183822	50945161	63	19376											
SALL4	57167	broad.mit.edu	37	20	50407510	50407510	+	Silent	SNP	G	G	A	rs138804604	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:50407510G>A	uc002xwh.4	-	1	1613	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	504					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGGTCACCGGGCAAGGAGC	0.567													A	50407510	G	A	50407510	2	1	275	1	0	0	0	0	0	0	0	1	13813	1103	39	2		2	SALL4	20	50407510	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08		50407510	12618010	64	19377											
LAMA5	3911	broad.mit.edu	37	20	60928193	60928193	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:60928193C>G	uc002ycq.3	-	2	632	c.565G>C	c.(565-567)Gcc>Ccc	p.A189P	LAMA5_uc021wfw.1_Missense_Mutation_p.A189P	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	189	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTCACAGGCAAAGAACTGC	0.662													G	60928193	C	G	60928193	3	3	275	1	0	0	0	0	1	0	0	0	8609	710	25	5	10834	5	LAMA5	20	60928193	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	10520683	60928193	2097327	65	19378											
KRTAP10-12	386685	broad.mit.edu	37	21	46117243	46117243	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr21:46117243G>A	uc002zfw.1	+	0	157	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	43	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CCCCTGCTGCGCCCCGGCCCC	0.677													A	46117243	G	A	46117243	3	1	275	1	0	0	0	0	1	0	0	0	8508	1087	38	1	129	1	KRTAP10-12	21	46117243	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		46117243	2012652	66	19379											
POTEH	23784	broad.mit.edu	37	22	16287770	16287770	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:16287770C>T	uc010gqp.2	-	0	168	c.116G>A	c.(115-117)gGc>gAc	p.G39D	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	39										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592													T	16287770	C	T	16287770	3	4	275	1	0	0	0	0	1	0	0	0	12267	739	26	3	1561	3	POTEH	22	16287770	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08		16287770	35016796	67	19380											
LZTR1	8216	broad.mit.edu	37	22	21342326	21342326	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:21342326A>C	uc002zto.3	+	4	531	c.428A>C	c.(427-429)aAt>aCt	p.N143T	LZTR1_uc002ztn.3_Missense_Mutation_p.N102T|LZTR1_uc011ahy.2_Missense_Mutation_p.N124T|LZTR1_uc010gsr.1_Missense_Mutation_p.N14T	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	143					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATTTATTCCAATTCTAACTTG	0.438													C	21342326	A	C	21342326	3	2	275	1	0	0	0	0	1	0	0	0	9137	101	4	5	446	5	LZTR1	22	21342326	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	5054556	21342326	29962240	68	19381											
C1QTNF6	114904	broad.mit.edu	37	22	37581479	37581479	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:37581479G>T	uc003aqx.1	-	1	331	c.68C>A	c.(67-69)gCc>gAc	p.A23D	C1QTNF6_uc003aqw.1_Missense_Mutation_p.A4D|C1QTNF6_uc003aqy.1_Missense_Mutation_p.A23D|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	4			P -> R (in dbSNP:rs229526).			collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						ACCCAGGGCGGCTGTCCCCAT	0.602													T	37581479	G	T	37581479	3	4	275	1	0	0	0	0	1	0	0	0	1967	1203	42	5	776	5	C1QTNF6	22	37581479	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	16239153	37581479	13723087	69	19382											
C1orf86	199990	broad.mit.edu	37	1	2125232	2125232	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:2125232C>T	uc001aix.2	-	6	1076	c.303G>A	c.(301-303)acG>acA	p.T101T	C1orf86_uc001aiv.2_Non-coding_Transcript|C1orf86_uc001aiw.2_Non-coding_Transcript|C1orf86_uc001aiy.3_Missense_Mutation_p.G106R	NM_001146310	NP_001139782	Q6NZ36	CA086_HUMAN	Homo sapiens chromosome 1 open reading frame 86 (C1orf86), transcript variant 1, mRNA.	79										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTCCTGCCCCGTGAAGCAGC	0.692													T	2125232	C	T	2125232	3	4	276	1	0	0	0	0	1	0	0	0	2063	652	23	2	474	2	C1orf86	1	2125232	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		2125232	247125389	1	19383											
SPEN	23013	broad.mit.edu	37	1	16260992	16260992	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:16260992G>A	uc001axk.1	+	10	8461	c.8257G>A	c.(8257-8259)Gta>Ata	p.V2753I	SPEN_uc010obp.1_Missense_Mutation_p.V2712I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2753	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCTGGTGGTGTAACGGCCAC	0.577													A	16260992	G	A	16260992	3	1	276	1	0	0	0	0	1	0	0	0	15037	1377	48	3	8299	3	SPEN	1	16260992	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	14135760	16260992	232989629	2	19384											
OPRD1	4985	broad.mit.edu	37	1	29189500	29189500	+	Missense_Mutation	SNP	C	C	T	rs139895939		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:29189500C>T	uc001brf.1	+	2	1066	c.824C>T	c.(823-825)gCg>gTg	p.A275V		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	275					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GTGTGTTGGGCGCCCATCCAC	0.672													T	29189500	C	T	29189500	3	4	276	1	0	0	0	0	1	0	0	0	10884	768	27	1	834	1	OPRD1	1	29189500	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	12928508	29189500	220061121	3	19385											
PTPN22	26191	broad.mit.edu	37	1	114380721	114380721	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:114380721G>A	uc001eds.3	-	12	1431	c.1301C>T	c.(1300-1302)gCa>gTa	p.A434V	PTPN22_uc021orx.1_Missense_Mutation_p.A434V|PTPN22_uc009wgq.3_Missense_Mutation_p.A379V|PTPN22_uc021ory.1_Missense_Mutation_p.A410V|PTPN22_uc010owo.2_Missense_Mutation_p.A190V|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.A434V|PTPN22_uc009wgs.2_Missense_Mutation_p.A307V|PTPN22_uc001edu.2_Missense_Mutation_p.A434V	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	434					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATCTTCCTGCTGCATTTAC	0.408													A	114380721	G	A	114380721	3	1	276	1	0	0	0	0	1	0	0	0	12787	1319	46	3	1181	3	PTPN22	1	114380721	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	85191221	114380721	134869900	4	19386											
IGSF3	3321	broad.mit.edu	37	1	117142794	117142794	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:117142794G>A	uc001egq.1	-	7	2563	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	IGSF3_uc001egr.1_Missense_Mutation_p.R600W|IGSF3_uc001egs.1_Missense_Mutation_p.R273W	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	600	Ig-like C2-type 5.					integral to membrane				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)		CCTCCGTCCCGGGTGAAGGTC	0.622													A	117142794	G	A	117142794	3	1	276	1	0	0	0	0	1	0	0	0	7601	1115	39	2	1806	2	IGSF3	1	117142794	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	2762073	117142794	132107827	5	19387											
VTCN1	79679	broad.mit.edu	37	1	117690323	117690323	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:117690323C>A	uc001ehb.3	-	4	911	c.806G>T	c.(805-807)aGc>aTc	p.S269I	VTCN1_uc021osn.1_Missense_Mutation_p.S174I|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.S174I|VTCN1_uc009whf.2_Missense_Mutation_p.S153I	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	269						integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AAGTGCCCAGCTGATGGCAAA	0.448													A	117690323	C	A	117690323	3	1	276	1	0	0	0	0	1	0	0	0	17231	797	28	5	46	5	VTCN1	1	117690323	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	547529	117690323	131560298	6	19388											
C1orf110	339512	broad.mit.edu	37	1	162829260	162829260	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:162829260C>A	uc001gck.2	-	1	352	c.177G>T	c.(175-177)agG>agT	p.R59S	C1orf110_uc009wux.1_Missense_Mutation_p.R59S	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.	59										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CTTGCTGCAACCTCTGCAGTT	0.547													A	162829260	C	A	162829260	3	1	276	1	0	0	0	0	1	0	0	0	1983	506	18	5	743	5	C1orf110	1	162829260	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	45138937	162829260	86421361	7	19389											
CYB5R1	51706	broad.mit.edu	37	1	202932844	202932844	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:202932844T>C	uc001gyt.2	-	6	642	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	CYB5R1_uc010pqe.1_Non-coding_Transcript	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.	191					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCTGTAGCATTGGGGTGATT	0.512													C	202932844	T	C	202932844	3	2	276	1	0	0	0	0	1	0	0	0	4126	1493	52	4	358	4	CYB5R1	1	202932844	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	40103584	202932844	46317777	8	19390											
SMYD3	64754	broad.mit.edu	37	1	246078867	246078867	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:246078867C>A	uc001ibl.3	-	7	903	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	SMYD3_uc001ibk.3_Nonsense_Mutation_p.E201*|SMYD3_uc001ibj.3_Nonsense_Mutation_p.E71*	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	260						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CAGTCACATTCAAAGCAGTAC	0.512													A	246078867	C	A	246078867	4	1	276	1	0	0	0	0	0	1	0	0	14823	835	29	5	528	5	SMYD3	1	246078867	Nonsense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	43146023	246078867	3171754	9	19391											
SEMA4F	10505	broad.mit.edu	37	2	74900663	74900663	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:74900663G>A	uc002sna.1	+	5	741	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc021vjn.1_Silent_p.E210E|SEMA4F_uc010ffq.1_Silent_p.E177E|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	210	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCGTGCCGAGGACTGGATTC	0.612													A	74900663	G	A	74900663	2	1	276	1	0	0	0	0	0	0	0	1	14035	991	35	3		3	SEMA4F	2	74900663	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08		74900663	168298710	10	19392											
REV1	51455	broad.mit.edu	37	2	100065960	100065960	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:100065960G>C	uc002tad.3	-	3	400	c.188C>G	c.(187-189)tCc>tGc	p.S63C	REV1_uc002tac.3_Missense_Mutation_p.S63C|REV1_uc002tae.1_Missense_Mutation_p.S42C	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	63	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCTCAGCGGAAGGATCTGC	0.313								Direct reversal of damage					C	100065960	G	C	100065960	3	2	276	1	0	0	0	0	1	0	0	0	13239	1174	41	5	3647	5	REV1	2	100065960	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	25165297	100065960	143133413	11	19393											
CNTNAP5	129684	broad.mit.edu	37	2	125530548	125530548	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:125530548G>A	uc010flu.3	+	16	3070	c.2706G>A	c.(2704-2706)tcG>tcA	p.S902S	CNTNAP5_uc002tno.3_Silent_p.S901S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	901	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGAGACGTCGGAGGAGGGCC	0.532													A	125530548	G	A	125530548	2	1	276	1	0	0	0	0	0	0	0	1	3650	1103	39	2		2	CNTNAP5	2	125530548	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	25464588	125530548	117668825	12	19394											
TTN	7273	broad.mit.edu	37	2	179458769	179458769	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:179458769G>A	uc021vsy.1	-	245	50872	c.50647C>T	c.(50647-50649)Cgt>Tgt	p.R16883C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10578C|TTN_uc021vta.1_Missense_Mutation_p.R10511C|TTN_uc021vtb.1_Missense_Mutation_p.R10386C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17810	Fibronectin type-III 22.						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)			GAATCTGAACGTTTGGCCTTG	0.423													A	179458769	G	A	179458769	3	1	276	1	0	0	0	0	1	0	0	0	16732	1145	40	1	49892	1	TTN	2	179458769	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	53928221	179458769	63740604	13	19395											
CCDC141	285025	broad.mit.edu	37	2	179720232	179720232	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:179720232delT	uc002une.2	-	18	3020	c.2902delA	c.(2902-2904)accfs	p.T968fs	CCDC141_uc002unf.1_Frame_Shift_Del_p.T447fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	393							protein binding			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)			GAATCAGAGGTTTTATTACTA	0.284													-	179720232	T	-	179720232	7	5	276	1	0	1	0	1	0	0	0	0	2775	1725	60	0	1470	0	CCDC141	2	179720232	Frame_Shift_Del	DEL	T	TCGA-76-6660-01A-11D-1845-08	261463	179720232	63479141	14	19396											
WDR75	84128	broad.mit.edu	37	2	190313200	190313200	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:190313200C>T	uc002uql.1	+	1	242	c.182C>T	c.(181-183)aCt>aTt	p.T61I	WDR75_uc002uqm.1_5'UTR|WDR75_uc002uqn.1_5'UTR	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	61						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AATCTGGTGACTGGAATCCAG	0.398													T	190313200	C	T	190313200	3	4	276	1	0	0	0	0	1	0	0	0	17322	565	20	3	188	3	WDR75	2	190313200	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	10592968	190313200	52886173	15	19397											
TRIP12	9320	broad.mit.edu	37	2	230683176	230683176	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:230683176T>C	uc002vpx.1	-	8	1612	c.1503A>G	c.(1501-1503)caA>caG	p.Q501Q	TRIP12_uc021vxw.1_Silent_p.Q459Q|TRIP12_uc002vpy.1_Silent_p.Q156Q|TRIP12_uc002vpw.1_Silent_p.Q453Q|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Silent_p.Q459Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	453					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			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)		CCTGAAGCTGTTGACTTTCAT	0.388													C	230683176	T	C	230683176	2	2	276	1	0	0	0	0	0	0	0	1	16553	1722	60	4		4	TRIP12	2	230683176	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	40369976	230683176	12516197	16	19398											
ILKAP	80895	broad.mit.edu	37	2	239079263	239079263	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:239079263C>T	uc002vxv.3	-	11	1223	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	ILKAP_uc010zns.2_Missense_Mutation_p.A297T|ILKAP_uc002vxw.3_Missense_Mutation_p.A245T|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Missense_Mutation_p.A247T	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	365	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTGCAGGCTGCTTCGTAGCGG	0.637													T	239079263	C	T	239079263	3	4	276	1	0	0	0	0	1	0	0	0	7714	797	28	3	89	3	ILKAP	2	239079263	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	8396087	239079263	4120110	17	19399											
CNTN4	152330	broad.mit.edu	37	3	3076439	3076439	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:3076439C>T	uc003bpc.3	+	16	2246	c.1907C>T	c.(1906-1908)aCt>aTt	p.T636I	CNTN4_uc003bpb.1_Missense_Mutation_p.T307I|CNTN4_uc021wsg.1_Missense_Mutation_p.T636I|CNTN4_uc003bpd.1_Missense_Mutation_p.T636I|CNTN4_uc003bpe.3_Missense_Mutation_p.T308I|CNTN4_uc003bpf.3_Missense_Mutation_p.T307I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	636	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAAGCCAGGACTCCATTCTCC	0.532													T	3076439	C	T	3076439	3	4	276	1	0	0	0	0	1	0	0	0	3643	565	20	3	1961	3	CNTN4	3	3076439	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		3076439	194945991	18	19400											
ITIH4	3700	broad.mit.edu	37	3	52853785	52853785	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:52853785C>T	uc011bem.2	-	15	1979	c.1951G>A	c.(1951-1953)Gga>Aga	p.G651R	ITIH4_uc011bel.2_Intron|ITIH4_uc003dfy.3_Intron|ITIH4_uc003dfz.3_Missense_Mutation_p.G646R|ITIH4_uc011ben.2_Intron	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	646					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTATTCCATCCTCTTCTTGGA	0.547													T	52853785	C	T	52853785	3	4	276	1	0	0	0	0	1	0	0	0	7906	690	24	3	892	3	ITIH4	3	52853785	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	49777346	52853785	145168645	19	19401											
ROBO1	6091	broad.mit.edu	37	3	78683176	78683176	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:78683176G>A	uc003dqe.2	-	23	3598	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	ROBO1_uc003dqc.2_Silent_p.D1030D|ROBO1_uc003dqd.2_Silent_p.D1085D|ROBO1_uc003dqb.2_Silent_p.D1091D|ROBO1_uc010hoh.2_Silent_p.D322D|ROBO1_uc011bgl.1_Silent_p.D702D	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1130					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAGGAACTGTGTCATTTGCTC	0.393													A	78683176	G	A	78683176	2	1	276	1	0	0	0	0	0	0	0	1	13513	1368	48	3		3	ROBO1	3	78683176	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	25829391	78683176	119339254	20	19402											
ARL6	84100	broad.mit.edu	37	3	97499015	97499015	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:97499015A>T	uc003drv.3	+	3	449	c.136A>T	c.(136-138)Aat>Tat	p.N46Y	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.N46Y|ARL6_uc010hoy.3_Missense_Mutation_p.N46Y	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	46					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TCAATCTCAAAATATCCTTCC	0.308													T	97499015	A	T	97499015	3	4	276	1	0	0	0	0	1	0	0	0	941	14	1	5	142	5	ARL6	3	97499015	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08	18815839	97499015	100523415	21	19403											
NPHP3	27031	broad.mit.edu	37	3	132432101	132432101	+	Silent	SNP	G	G	A	rs138124482		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:132432101G>A	uc003epe.2	-	5	1091	c.987C>T	c.(985-987)tgC>tgT	p.C329C	NPHP3_uc003epf.2_Silent_p.C84C	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	329					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.M328L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCATTGTCTCGCACATTCTCT	0.289													A	132432101	G	A	132432101	2	1	276	1	0	0	0	0	0	0	0	1	10580	1079	38	1		1	NPHP3	3	132432101	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	34933086	132432101	65590329	22	19404											
KIAA0226	9711	broad.mit.edu	37	3	197431552	197431552	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:197431552G>A	uc003fyc.2	-	3	507	c.324C>T	c.(322-324)aaC>aaT	p.N108N	KIAA0226_uc003fyd.3_Silent_p.N48N|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.3_5'UTR|KIAA0226_uc003fyg.3_Silent_p.N101N	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	108	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTCTGGTCGTTCTCGTGCA	0.567													A	197431552	G	A	197431552	2	1	276	1	0	0	0	0	0	0	0	1	8162	1136	40	1		1	KIAA0226	3	197431552	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	64999451	197431552	590878	23	19405											
TACC3	10460	broad.mit.edu	37	4	1729779	1729779	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:1729779C>T	uc003gdo.3	+	3	805	c.650C>T	c.(649-651)cCg>cTg	p.P217L	TACC3_uc010ibz.3_Missense_Mutation_p.P217L|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	217						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCGGAGACTCCGCACGGAGCC	0.597													T	1729779	C	T	1729779	3	4	276	1	0	0	0	0	1	0	0	0	15500	652	23	2	660	2	TACC3	4	1729779	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		1729779	189424497	24	19406											
SLIT2	9353	broad.mit.edu	37	4	20597371	20597371	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:20597371C>T	uc003gpr.1	+	30	3438	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	SLIT2_uc003gps.1_Silent_p.D1070D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1078	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.D1078D(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGATTTTGACGACTGCCAAG	0.468													T	20597371	C	T	20597371	2	4	276	1	0	0	0	0	0	0	0	1	14740	535	19	1		1	SLIT2	4	20597371	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	18867592	20597371	170556905	25	19407											
PALLD	23022	broad.mit.edu	37	4	169845564	169845564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:169845564C>T	uc011cjx.2	+	18	3428	c.3217C>T	c.(3217-3219)Cga>Tga	p.R1073*	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Nonsense_Mutation_p.R1056*|PALLD_uc003irv.3_Nonsense_Mutation_p.R674*|PALLD_uc003irw.3_Nonsense_Mutation_p.R569*|PALLD_uc003irx.3_Nonsense_Mutation_p.R282*	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1280	Ig-like C2-type 3.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			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)		CAGCACTGACCGAGTGAGGTA	0.418									Pancreatic Cancer, Familial Clustering of				T	169845564	C	T	169845564	4	4	276	1	0	0	0	0	0	1	0	0	11407	644	23	2	3794	2	PALLD	4	169845564	Nonsense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	149248193	169845564	21308712	26	19408											
EDIL3	10085	broad.mit.edu	37	5	83402578	83402578	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:83402578G>T	uc003kio.1	-	5	959	c.540C>A	c.(538-540)caC>caA	p.H180Q	EDIL3_uc003kip.1_Missense_Mutation_p.H170Q	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	180	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.H180H(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AAAGAGCTCGGTGAGTAGAGG	0.418													T	83402578	G	T	83402578	3	4	276	1	0	0	0	0	1	0	0	0	4915	1252	44	5	926	5	EDIL3	5	83402578	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		83402578	97512682	27	19409											
WDR36	134430	broad.mit.edu	37	5	110461398	110461398	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:110461398G>C	uc003kpd.3	+	21	2728	c.2611G>C	c.(2611-2613)Gaa>Caa	p.E871Q	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	871					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGGGTCCATAGAAGTTATGCA	0.443													C	110461398	G	C	110461398	3	2	276	1	0	0	0	0	1	0	0	0	17287	943	33	5	2697	5	WDR36	5	110461398	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	27058820	110461398	70453862	28	19410											
GABRA1	2554	broad.mit.edu	37	5	161300157	161300157	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:161300157G>A	uc010jiw.3	+	5	758	c.290G>A	c.(289-291)tGg>tAg	p.W97*	GABRA1_uc010jix.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jiy.3_Nonsense_Mutation_p.W97*|GABRA1_uc003lyx.4_Nonsense_Mutation_p.W97*|GABRA1_uc010jiz.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jja.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jjb.3_Nonsense_Mutation_p.W97*	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	97					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			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)	CGTCAAAGCTGGAAGGATGAA	0.363													A	161300157	G	A	161300157	4	1	276	1	0	0	0	0	0	1	0	0	6160	1357	47	3	304	3	GABRA1	5	161300157	Nonsense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	50838759	161300157	19615103	29	19411											
N4BP3	23138	broad.mit.edu	37	5	177547670	177547670	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:177547670C>T	uc003mik.1	+	2	1069	c.822C>T	c.(820-822)ggC>ggT	p.G274G	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	274						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GGGGCCTTGGCGATGAGGACG	0.662													T	177547670	C	T	177547670	2	4	276	1	0	0	0	0	0	0	0	1	10113	755	27	1		1	N4BP3	5	177547670	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	16247513	177547670	3367590	30	19412											
BTN2A2	10385	broad.mit.edu	37	6	26385257	26385257	+	Missense_Mutation	SNP	G	G	A	rs143653188	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:26385257G>A	uc003nht.3	+	2	242	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	BTN2A2_uc003nhs.3_Missense_Mutation_p.V37M|BTN2A2_uc011dkf.2_Intron|BTN2A2_uc003nhq.3_Missense_Mutation_p.V37M|BTN2A2_uc003nhr.3_Intron|BTN2A2_uc011dkh.2_Intron|BTN2A2_uc011dkg.2_Missense_Mutation_p.V37M	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	37	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GTTTACTGTCGTGGGGCCAGC	0.463													A	26385257	G	A	26385257	3	1	276	1	0	0	0	0	1	0	0	0	1561	1145	40	1	115	1	BTN2A2	6	26385257	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		26385257	144729810	31	19413											
CUL9	23113	broad.mit.edu	37	6	43160945	43160945	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:43160945C>T	uc003ouk.3	+	9	2463	c.2388_splice	c.e9+1	p.A796_splice	CUL9_uc003oul.3_Splice_Site_p.A796_splice|CUL9_uc010jyk.3_Splice_Site	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	796					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTGGGCTGGCGGTGAGTACA	0.567													T	43160945	C	T	43160945	3	4	276	1	0	0	0	0	1	0	0	0	4061	782	27	1	2417	1	CUL9	6	43160945	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	16775688	43160945	127954122	32	19414											
BCKDHB	594	broad.mit.edu	37	6	80838915	80838915	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:80838915T>C	uc003pjd.2	+	2	379	c.312T>C	c.(310-312)ttT>ttC	p.F104F	BCKDHB_uc003pje.2_Silent_p.F104F	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	104					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GTGGAGTCTTTAGATGCACTG	0.264													C	80838915	T	C	80838915	2	2	276	1	0	0	0	0	0	0	0	1	1360	1751	61	4		4	BCKDHB	6	80838915	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	37677970	80838915	90276152	33	19415											
AHI1	54806	broad.mit.edu	37	6	135748441	135748441	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:135748441T>C	uc003qgi.3	-	19	3012	c.2628A>G	c.(2626-2628)gaA>gaG	p.E876E	AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Silent_p.E326E|AHI1_uc003qgh.3_Silent_p.E876E|AHI1_uc003qgj.3_Silent_p.E876E|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Silent_p.E876E	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	876						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGGCTACTTGTTCTCCTAAAT	0.323													C	135748441	T	C	135748441	2	2	276	1	0	0	0	0	0	0	0	1	413	1722	60	4		4	AHI1	6	135748441	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	54909526	135748441	35366626	34	19416											
RPS6KA2	6196	broad.mit.edu	37	6	166912027	166912027	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:166912027C>T	uc003qvd.1	-	9	904	c.791G>A	c.(790-792)aGt>aAt	p.S264N	RPS6KA2_uc011ego.1_Missense_Mutation_p.S150N|RPS6KA2_uc010kkl.1_Missense_Mutation_p.S150N|RPS6KA2_uc003qvb.1_Missense_Mutation_p.S239N|RPS6KA2_uc003qvc.1_Missense_Mutation_p.S247N	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	239	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCAGTCGGCACTCTGCGTGTG	0.637													T	166912027	C	T	166912027	3	4	276	1	0	0	0	0	1	0	0	0	13651	565	20	3	1541	3	RPS6KA2	6	166912027	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	31163586	166912027	4203040	35	19417											
IKZF1	10320	broad.mit.edu	37	7	50358674	50358674	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:50358674G>T	uc003tow.4	+	1	172	c.17G>T	c.(16-18)gGt>gTt	p.G6V	IKZF1_uc022acq.1_Missense_Mutation_p.G6V|IKZF1_uc003tpa.4_Missense_Mutation_p.G6V|IKZF1_uc022acr.1_Missense_Mutation_p.G6V|IKZF1_uc022acs.1_Missense_Mutation_p.G6V|IKZF1_uc022act.1_Missense_Mutation_p.G6V|IKZF1_uc022acu.1_Missense_Mutation_p.G6V|IKZF1_uc003tox.4_Missense_Mutation_p.G6V|IKZF1_uc022acv.1_Missense_Mutation_p.G6V|IKZF1_uc022acw.1_Missense_Mutation_p.G6V|IKZF1_uc022acx.1_Missense_Mutation_p.G6V|IKZF1_uc022acy.1_Missense_Mutation_p.G6V|IKZF1_uc022acz.1_Missense_Mutation_p.G6V|IKZF1_uc011kck.2_Missense_Mutation_p.G6V|IKZF1_uc003toy.4_Missense_Mutation_p.G6V|IKZF1_uc003tov.1_Missense_Mutation_p.G6V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	6					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(41)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCTGATGAGGGTCAAGACATG	0.433			"D,T"	BCL6	"ALL, DLBCL"								T	50358674	G	T	50358674	3	4	276	1	0	0	0	0	1	0	0	0	7614	1261	44	5	19	5	IKZF1	7	50358674	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		50358674	108779989	36	19418											
SEPT14	346288	broad.mit.edu	37	7	55912359	55912359	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:55912359G>A	uc003tqz.2	-	3	345	c.228C>T	c.(226-228)aaC>aaT	p.N76N		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	76					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATCTTTCAAGTTAGTATTAA	0.353													A	55912359	G	A	55912359	2	1	276	1	0	0	0	0	0	0	0	1	14063	1020	36	3		3	SEPT14	7	55912359	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	5553685	55912359	103226304	37	19419											
EIF4H	7458	broad.mit.edu	37	7	73609098	73609098	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:73609098G>A	uc003uad.1	+	5	505	c.497G>A	c.(496-498)aGg>aAg	p.R166K	EIF4H_uc003uae.1_Missense_Mutation_p.R146K	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	166					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TTAGGGGGCAGGGGAGGTAGT	0.542													A	73609098	G	A	73609098	3	1	276	1	0	0	0	0	1	0	0	0	5039	1000	35	3	519	3	EIF4H	7	73609098	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	17696739	73609098	85529565	38	19420											
MUC17	140453	broad.mit.edu	37	7	100683326	100683326	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:100683326A>G	uc003uxp.1	+	2	8682	c.8629A>G	c.(8629-8631)Agc>Ggc	p.S2877G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2877	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			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)					TATACCTGTCAGCACCACGCC	0.478													G	100683326	A	G	100683326	3	3	276	1	0	0	0	0	1	0	0	0	9974	188	7	4	8639	4	MUC17	7	100683326	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08	27074228	100683326	58455337	39	19421											
RELN	5649	broad.mit.edu	37	7	103338368	103338368	+	Missense_Mutation	SNP	C	C	T	rs114926265	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:103338368C>T	uc022ajr.1	-	9	1235	c.1075G>A	c.(1075-1077)Gtt>Att	p.V359I	RELN_uc022ajq.1_Missense_Mutation_p.V359I|RELN_uc010liz.3_Missense_Mutation_p.V359I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	359					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			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)		TCTTCTAAAACGACTTGTCTG	0.428													T	103338368	C	T	103338368	3	4	276	1	0	0	0	0	1	0	0	0	13220	536	19	1	9531	1	RELN	7	103338368	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	2655042	103338368	55800295	40	19422											
SLC26A3	1811	broad.mit.edu	37	7	107415299	107415299	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:107415299G>A	uc003ver.2	-	15	1907	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	SLC26A3_uc003ves.2_Nonsense_Mutation_p.R531*	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	566	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CGTAGAATTCGAAGTGGACTA	0.398													A	107415299	G	A	107415299	4	1	276	1	0	0	0	0	0	1	0	0	14518	1066	37	2	622	2	SLC26A3	7	107415299	Nonsense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	4076931	107415299	51723364	41	19423											
PPP1R3A	5506	broad.mit.edu	37	7	113558926	113558926	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:113558926A>C	uc010ljy.1	-	0	157	c.126T>G	c.(124-126)agT>agG	p.S42R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	42					glycogen metabolic process	integral to membrane		p.S42R(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACCTCGTCTACTTGGTTGAG	0.373													C	113558926	A	C	113558926	3	2	276	1	0	0	0	0	1	0	0	0	12371	388	14	5	3258	5	PPP1R3A	7	113558926	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08	6143627	113558926	45579737	42	19424											
IMPDH1	3614	broad.mit.edu	37	7	128034510	128034510	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:128034510C>T	uc011kol.1	-	12	1545	c.1439_splice	c.e12+1	p.R480_splice	IMPDH1_uc011kom.1_Splice_Site_p.R475_splice|IMPDH1_uc003vmt.2_Splice_Site_p.R455_splice|IMPDH1_uc003vmu.2_Splice_Site_p.R565_splice|IMPDH1_uc003vmx.2_Splice_Site_p.R488_splice|IMPDH1_uc003vmy.2_Splice_Site_p.R496_splice|IMPDH1_uc003vmw.2_Splice_Site_p.R555_splice|IMPDH1_uc011kon.1_Splice_Site_p.R532_splice|IMPDH1_uc003vmv.2_Splice_Site_p.R529_splice|DQ596753_uc022akz.1_5'Flank|DQ595173_uc022ala.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	480					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CAGCACTCACCGAAGGACAGA	0.582													T	128034510	C	T	128034510	3	4	276	1	0	0	0	0	1	0	0	0	7726	666	23	2	117	2	IMPDH1	7	128034510	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	14475584	128034510	31104153	43	19425											
KCNB2	9312	broad.mit.edu	37	8	73849104	73849104	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:73849104A>T	uc003xzb.3	+	2	2102	c.1514A>T	c.(1513-1515)aAc>aTc	p.N505I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	505					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S504S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAAGCTCCAACAAGTCTTTC	0.562													T	73849104	A	T	73849104	3	4	276	1	0	0	0	0	1	0	0	0	8013	43	2	5	1520	5	KCNB2	8	73849104	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		73849104	72514918	44	19426											
CSMD3	114788	broad.mit.edu	37	8	113256734	113256734	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:113256734C>G	uc003ynu.3	-	64	10450	c.10291G>C	c.(10291-10293)Ggg>Cgg	p.G3431R	CSMD3_uc003yns.3_Missense_Mutation_p.G2633R|CSMD3_uc003ynt.3_Missense_Mutation_p.G3391R|CSMD3_uc011lhx.2_Missense_Mutation_p.G3262R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3431	Sushi 28.					integral to membrane|plasma membrane				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						AGTGTATACCCATGAGATGGA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113256734	C	G	113256734	3	3	276	1	0	0	0	0	1	0	0	0	3946	594	21	5	860	5	CSMD3	8	113256734	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	39407630	113256734	33107288	45	19427											
GPR20	2843	broad.mit.edu	37	8	142367058	142367058	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:142367058G>A	uc022bby.1	-	0	966	c.966C>T	c.(964-966)agC>agT	p.S322S	GPR20_uc003ywf.3_Silent_p.S322S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	322						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACGTCACCGCTGCTGGGCT	0.657													A	142367058	G	A	142367058	2	1	276	1	0	0	0	0	0	0	0	1	6680	1078	38	1		1	GPR20	8	142367058	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	29110324	142367058	3996964	46	19428											
TMEM2	23670	broad.mit.edu	37	9	74319626	74319626	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:74319626G>A	uc011lsa.1	-	17	3619	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	TMEM2_uc011lrz.1_Nonsense_Mutation_p.Q20*|TMEM2_uc010mos.2_Nonsense_Mutation_p.Q964*|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1027						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCAGCCTTCTGATTAATACCT	0.483													A	74319626	G	A	74319626	4	1	276	1	0	0	0	0	0	1	0	0	16118	1299	45	3	1100	3	TMEM2	9	74319626	Nonsense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		74319626	66893805	47	19429											
ZNF883	169834	broad.mit.edu	37	9	115760403	115760403	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:115760403C>T	uc011lwy.2	-	4	1376	c.137G>A	c.(136-138)tGt>tAt	p.C46Y		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GGACTTACCACATATTTTACA	0.373													T	115760403	C	T	115760403	3	4	276	1	0	0	0	0	1	0	0	0	18195	478	17	3	1004	3	ZNF883	9	115760403	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	41440777	115760403	25453028	48	19430											
ZNF883	169834	broad.mit.edu	37	9	115760511	115760511	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:115760511G>A	uc011lwy.2	-	4	1268	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATATGGGTTCGCGGTCATATA	0.368													A	115760511	G	A	115760511	3	1	276	1	0	0	0	0	1	0	0	0	18195	1087	38	1	1112	1	ZNF883	9	115760511	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	108	115760511	25452920	49	19431											
PRPF4	9128	broad.mit.edu	37	9	116038922	116038922	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:116038922G>A	uc004bgx.3	+	1	235	c.125G>A	c.(124-126)cGt>cAt	p.R42H	FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.3_Missense_Mutation_p.R41H	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	42						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GAGAGGGAGCGTCTGGCCAAA	0.458													A	116038922	G	A	116038922	3	1	276	1	0	0	0	0	1	0	0	0	12570	1145	40	1	131	1	PRPF4	9	116038922	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	278411	116038922	25174509	50	19432											
PKN3	29941	broad.mit.edu	37	9	131482499	131482499	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:131482499G>A	uc004bvw.3	+	20	2787	c.2394G>A	c.(2392-2394)ccG>ccA	p.P798P	PKN3_uc010myh.3_Silent_p.P798P|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	798	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGAAGTGCCCGGAGAAGCGCC	0.657													A	131482499	G	A	131482499	2	1	276	1	0	0	0	0	0	0	0	1	11981	1103	39	2		2	PKN3	9	131482499	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	15443577	131482499	9730932	51	19433											
KCNT1	57582	broad.mit.edu	37	9	138662162	138662162	+	Silent	SNP	G	G	A	rs138352399	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:138662162G>A	uc011mdq.2	+	16	1712	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	KCNT1_uc011mdr.2_Silent_p.P373P|KCNT1_uc010nbf.3_Silent_p.P501P|KCNT1_uc004cgo.1_Silent_p.P295P	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	546						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGGAGTCTCCGGAGCAGTGGC	0.682													A	138662162	G	A	138662162	2	1	276	1	0	0	0	0	0	0	0	1	8091	1103	39	2		2	KCNT1	9	138662162	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	7179663	138662162	2551269	52	19434											
OPTN	10133	broad.mit.edu	37	10	13174131	13174131	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:13174131A>G	uc001ilu.1	+	13	1904	c.1466A>G	c.(1465-1467)aAg>aGg	p.K489R	OPTN_uc001ilv.1_Missense_Mutation_p.K489R|OPTN_uc001ilw.1_Missense_Mutation_p.K489R|OPTN_uc001ilx.1_Missense_Mutation_p.K489R|OPTN_uc001ily.1_Missense_Mutation_p.K483R|OPTN_uc010qbr.1_Missense_Mutation_p.K432R	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	489	Interaction with HD.|Interaction with MYO6.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CATGAGGAAAAGGAGCAACTG	0.443													G	13174131	A	G	13174131	3	3	276	1	0	0	0	0	1	0	0	0	10889	72	3	4	1508	4	OPTN	10	13174131	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		13174131	122360616	53	19435											
CCDC7	221016	broad.mit.edu	37	10	32780862	32780862	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:32780862C>T	uc001iwj.3	+	9	1379	c.809C>T	c.(808-810)tCa>tTa	p.S270L	CCDC7_uc009xlu.2_Intron|CCDC7_uc001iwk.3_Missense_Mutation_p.S270L|CCDC7_uc009xlv.3_Intron|CCDC7_uc009xly.1_Intron|CCDC7_uc009xlw.1_Non-coding_Transcript|CCDC7_uc009xlx.1_Intron	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	270										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ACTGCTCATTCAATGACTAAT	0.264													T	32780862	C	T	32780862	3	4	276	1	0	0	0	0	1	0	0	0	2842	838	29	3	843	3	CCDC7	10	32780862	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	19606731	32780862	102753885	54	19436											
SLC18A3	6572	broad.mit.edu	37	10	50819867	50819867	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:50819867G>A	uc001jhw.3	+	0	1521	c.1081G>A	c.(1081-1083)Gcg>Acg	p.A361T	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	361					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.A361V(1)|p.A361A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTGTACGGCGCGCTTGGGCT	0.687													A	50819867	G	A	50819867	3	1	276	1	0	0	0	0	1	0	0	0	14427	1087	38	1	1083	1	SLC18A3	10	50819867	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	18039005	50819867	84714880	55	19437											
LIPF	8513	broad.mit.edu	37	10	90428330	90428330	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:90428330T>A	uc001kfg.2	+	3	353	c.239T>A	c.(238-240)gTg>gAg	p.V80E	LIPF_uc009xtk.3_Missense_Mutation_p.V80E|LIPF_uc001kfh.2_Intron|LIPF_uc010qmt.2_Missense_Mutation_p.V90E|LIPF_uc010qmu.2_Intron	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	80					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AGACCTGTTGTGTTTTTGCAG	0.408													A	90428330	T	A	90428330	3	1	276	1	0	0	0	0	1	0	0	0	8822	1696	59	5	249	5	LIPF	10	90428330	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	39608463	90428330	45106417	56	19438											
DMBT1	1755	broad.mit.edu	37	10	124395540	124395540	+	Silent	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:124395540A>G	uc001lgk.1	+	49	6301	c.6195A>G	c.(6193-6195)gaA>gaG	p.E2065E	DMBT1_uc001lgl.1_Silent_p.E2055E|DMBT1_uc001lgm.1_Silent_p.E1437E|DMBT1_uc021qaf.1_Silent_p.E2065E|DMBT1_uc021qag.1_Silent_p.E2055E|DMBT1_uc021qah.1_Silent_p.E1437E|DMBT1_uc009xzz.1_Silent_p.E2064E|DMBT1_uc010qtx.1_Silent_p.E785E|DMBT1_uc009yab.1_Silent_p.E768E|DMBT1_uc009yac.1_Silent_p.E359E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2065	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTATATTGAAGTTTTCGATG	0.507													G	124395540	A	G	124395540	2	3	276	1	0	0	0	0	0	0	0	1	4577	69	3	4		4	DMBT1	10	124395540	Silent	SNP	A	TCGA-76-6660-01A-11D-1845-08	33967210	124395540	11139207	57	19439											
NLRP14	338323	broad.mit.edu	37	11	7083705	7083705	+	Silent	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:7083705A>G	uc001mfb.1	+	9	3269	c.2946A>G	c.(2944-2946)agA>agG	p.R982R		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	982					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGCTTTGAGATATCCAAACT	0.403													G	7083705	A	G	7083705	2	3	276	1	0	0	0	0	0	0	0	1	10476	330	12	4		4	NLRP14	11	7083705	Silent	SNP	A	TCGA-76-6660-01A-11D-1845-08		7083705	127922811	58	19440											
RNF141	50862	broad.mit.edu	37	11	10536581	10536581	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:10536581C>T	uc001mis.1	-	5	728	c.575G>A	c.(574-576)cGc>cAc	p.R192H	RNF141_uc009yga.1_Non-coding_Transcript	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	Homo sapiens ring finger protein 141 (RNF141), mRNA.	192							zinc ion binding	p.R192H(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CATCTGTAGGCGACAAATAGG	0.383													T	10536581	C	T	10536581	3	4	276	1	0	0	0	0	1	0	0	0	13444	768	27	1	121	1	RNF141	11	10536581	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	3452876	10536581	124469935	59	19441											
WT1	7490	broad.mit.edu	37	11	32421505	32421505	+	Silent	SNP	T	T	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:32421505T>G	uc001mtn.2	-	5	1277	c.1087A>C	c.(1087-1089)Aga>Cga	p.R363R	WT1_uc001mtl.2_Silent_p.R151R|WT1_uc001mtm.2_Silent_p.R134R|WT1_uc001mto.2_Silent_p.R363R|WT1_uc001mtq.2_Silent_p.R346R|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	295					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R362*(2)|p.R362fs*17(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGAATGCCTCTGAAGACACCG	0.557			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				G	32421505	T	G	32421505	2	3	276	1	0	0	0	0	0	0	0	1	17405	1588	55	5		5	WT1	11	32421505	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	21884924	32421505	102585011	60	19442											
CHRM1	1128	broad.mit.edu	37	11	62677224	62677224	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:62677224C>T	uc021qko.1	-	0	1349	c.1349G>A	c.(1348-1350)gGc>gAc	p.G450D	CHRM1_uc001nwi.3_Missense_Mutation_p.G450D	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	450					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	GTGCACGGAGCCAGGGCGCTT	0.657													T	62677224	C	T	62677224	3	4	276	1	0	0	0	0	1	0	0	0	3376	739	26	3	37	3	CHRM1	11	62677224	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	30255719	62677224	72329292	61	19443											
STIP1	10963	broad.mit.edu	37	11	63961718	63961718	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:63961718C>T	uc001nyk.1	+	2	424	c.277C>T	c.(277-279)Cga>Tga	p.R93*	STIP1_uc001nyj.3_Nonsense_Mutation_p.R93*|STIP1_uc010rnb.1_Intron	NM_006819	NP_006810	P31948	STIP1_HUMAN	Homo sapiens stress-induced-phosphoprotein 1 (STIP1), mRNA.	93					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAAGCCAAGCGAACCTATGA	0.468													T	63961718	C	T	63961718	4	4	276	1	0	0	0	0	0	1	0	0	15284	760	27	1	287	1	STIP1	11	63961718	Nonsense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	1284494	63961718	71044798	62	19444											
GRAMD1B	57476	broad.mit.edu	37	11	123471245	123471245	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:123471245C>G	uc001pyw.2	+	7	960	c.631C>G	c.(631-633)Ctc>Gtc	p.L211V	GRAMD1B_uc001pyx.2_Missense_Mutation_p.L204V|GRAMD1B_uc010rzw.2_Missense_Mutation_p.L164V|GRAMD1B_uc010rzx.1_Missense_Mutation_p.L164V|GRAMD1B_uc009zbe.1_Missense_Mutation_p.L200V	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	204						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCAGAATGCTCTCCTTGAAAA	0.458													G	123471245	C	G	123471245	3	3	276	1	0	0	0	0	1	0	0	0	6748	913	32	5	636	5	GRAMD1B	11	123471245	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	59509527	123471245	11535271	63	19445											
OVCH1	341350	broad.mit.edu	37	12	29630051	29630051	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:29630051T>C	uc001rix.1	-	11	1361	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	454	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AATGTGCTTCTCTGGAGCACA	0.393													C	29630051	T	C	29630051	3	2	276	1	0	0	0	0	1	0	0	0	11323	1551	54	4	2111	4	OVCH1	12	29630051	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08		29630051	104221844	64	19446											
H3F3C	440093	broad.mit.edu	37	12	31944946	31944946	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:31944946C>T	uc001rkr.3	-	0	230	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	52					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CTGATAACGACGAATCTCTCG	0.582										HNSCC(67;0.2)			T	31944946	C	T	31944946	3	4	276	1	0	0	0	0	1	0	0	0	6935	536	19	1	256	1	H3F3C	12	31944946	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	2314895	31944946	101906949	65	19447											
GALNT6	11226	broad.mit.edu	37	12	51773383	51773383	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:51773383C>T	uc001ryk.2	-	1	408	c.183G>A	c.(181-183)atG>atA	p.M61I	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.M61I|GALNT6_uc010snh.1_Missense_Mutation_p.M61I	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	61					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TAAGGTTGTTCATGGCCTCCA	0.552													T	51773383	C	T	51773383	3	4	276	1	0	0	0	0	1	0	0	0	6217	826	29	3	1725	3	GALNT6	12	51773383	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	19828437	51773383	82078512	66	19448											
OR6C1	390321	broad.mit.edu	37	12	55714592	55714592	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:55714592C>T	uc010spi.2	+	0	209	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378													T	55714592	C	T	55714592	3	4	276	1	0	0	0	0	1	0	0	0	11190	893	31	2	211	2	OR6C1	12	55714592	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	3941209	55714592	78137303	67	19449											
GLT8D2	83468	broad.mit.edu	37	12	104387178	104387178	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:104387178C>G	uc001tkh.1	-	9	1429	c.872G>C	c.(871-873)aGg>aCg	p.R291T	GLT8D2_uc001tki.1_Missense_Mutation_p.R291T	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	291						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ACCCAGGTGCCTTATGTGCCA	0.458													G	104387178	C	G	104387178	3	3	276	1	0	0	0	0	1	0	0	0	6470	681	24	5	185	5	GLT8D2	12	104387178	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	48672586	104387178	29464717	68	19450											
DCLK1	9201	broad.mit.edu	37	13	36686060	36686060	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr13:36686060G>A	uc001uvf.3	-	2	952	c.669C>T	c.(667-669)gcC>gcT	p.A223A		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	223	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGCTTGATGGCATCGGTGA	0.488													A	36686060	G	A	36686060	2	1	276	1	0	0	0	0	0	0	0	1	4291	1335	47	3		3	DCLK1	13	36686060	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08		36686060	78483818	69	19451											
SPG20	23111	broad.mit.edu	37	13	36909291	36909291	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr13:36909291T>C	uc001uvn.3	-	2	947	c.677A>G	c.(676-678)aAt>aGt	p.N226S	SPG20_uc010ten.2_Missense_Mutation_p.N226S|SPG20_uc001uvm.3_Missense_Mutation_p.N226S|SPG20_uc001uvo.3_Missense_Mutation_p.N226S|SPG20_uc001uvq.3_Missense_Mutation_p.N226S|SPG20_uc001uvp.2_Missense_Mutation_p.N226S	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	226					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		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;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTGTACTCCATTTGGTATCAA	0.423													C	36909291	T	C	36909291	3	2	276	1	0	0	0	0	1	0	0	0	15041	1493	52	4	1355	4	SPG20	13	36909291	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	223231	36909291	78260587	70	19452											
CTSG	1511	broad.mit.edu	37	14	25043946	25043946	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:25043946G>A	uc001wpq.3	-	2	311	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	92	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ATGGCTCTGCGCGCAGTGATG	0.532													A	25043946	G	A	25043946	3	1	276	1	0	0	0	0	1	0	0	0	4035	1087	38	1	505	1	CTSG	14	25043946	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		25043946	82305594	71	19453											
ARHGAP5	394	broad.mit.edu	37	14	32560334	32560334	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:32560334G>A	uc001wrl.3	+	1	698	c.459G>A	c.(457-459)aaG>aaA	p.K153K	ARHGAP5_uc001wrm.3_Silent_p.K153K|ARHGAP5_uc001wrn.3_Silent_p.K153K|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	153					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGAAGGGAAGCTCAACGTAG	0.363													A	32560334	G	A	32560334	2	1	276	1	0	0	0	0	0	0	0	1	886	962	34	3		3	ARHGAP5	14	32560334	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	7516388	32560334	74789206	72	19454											
PTGDR	5729	broad.mit.edu	37	14	52735336	52735336	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:52735336G>A	uc001wzq.3	+	0	906	c.804G>A	c.(802-804)gcG>gcA	p.A268A		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	268						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGCTGCTGGCGCTGATGACCG	0.687													A	52735336	G	A	52735336	2	1	276	1	0	0	0	0	0	0	0	1	12741	1074	38	1		1	PTGDR	14	52735336	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	20175002	52735336	54614204	73	19455											
CDAN1	146059	broad.mit.edu	37	15	43028860	43028860	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:43028860delG	uc001zql.3	-	1	326	c.209delC	c.(208-210)ccgfs	p.P70fs	CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	70						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGCGGGGGTCGGGGGCCCCTG	0.736													-	43028860	G	-	43028860	7	5	276	1	0	1	0	1	0	0	0	0	3054	1116	39	0	3582	0	CDAN1	15	43028860	Frame_Shift_Del	DEL	G	TCGA-76-6660-01A-11D-1845-08		43028860	59502532	74	19456											
TGM7	116179	broad.mit.edu	37	15	43571424	43571424	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:43571424G>A	uc001zrf.1	-	10	1735	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	577					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T577M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		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;9.14e-07)	L-Glutamine(DB00130)	CTTTTCGTCCGTTAGCTTGTT	0.527													A	43571424	G	A	43571424	3	1	276	1	0	0	0	0	1	0	0	0	15832	1145	40	1	414	1	TGM7	15	43571424	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	542564	43571424	58959968	75	19457											
ATP8B4	79895	broad.mit.edu	37	15	50226281	50226281	+	Silent	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:50226281G>T	uc001zxu.3	-	14	1528	c.1386C>A	c.(1384-1386)ccC>ccA	p.P462P	ATP8B4_uc010ber.3_Silent_p.P335P|ATP8B4_uc010ufd.2_Silent_p.P335P|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	462					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATGAACTTTGGGATCACCCA	0.413													T	50226281	G	T	50226281	2	4	276	1	0	0	0	0	0	0	0	1	1197	1335	47	5		5	ATP8B4	15	50226281	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	6654857	50226281	52305111	76	19458											
NEDD4	4734	broad.mit.edu	37	15	56207523	56207523	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:56207523T>G	uc002adj.3	-	0	1807	c.1507A>C	c.(1507-1509)Agc>Cgc	p.S503R	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.S503R|NEDD4_uc010ugj.2_Missense_Mutation_p.S503R|NEDD4_uc010bfm.3_Missense_Mutation_p.S503R|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	503					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCTCTGTTGCTGTCTCTTGAT	0.338													G	56207523	T	G	56207523	3	3	276	1	0	0	0	0	1	0	0	0	10310	1580	55	5	2552	5	NEDD4	15	56207523	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	5981242	56207523	46323869	77	19459											
KIAA1024	23251	broad.mit.edu	37	15	79748562	79748562	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:79748562G>A	uc002bew.1	+	1	148	c.73G>A	c.(73-75)Gtt>Att	p.V25I	KIAA1024_uc010unk.1_Missense_Mutation_p.V25I	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	25						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCAAAATACCGTTTCTTATCA	0.478													A	79748562	G	A	79748562	3	1	276	1	0	0	0	0	1	0	0	0	8205	1145	40	1	75	1	KIAA1024	15	79748562	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	23541039	79748562	22782830	78	19460											
ADAMTSL3	57188	broad.mit.edu	37	15	84659966	84659966	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:84659966G>T	uc002bjz.4	+	23	4197	c.3973_splice	c.e23+1	p.G1325_splice	ADAMTSL3_uc010bmt.1_Splice_Site_p.G1325_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1325	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCTGTAAAAGGTAAGTGTGG	0.502													T	84659966	G	T	84659966	3	4	276	1	0	0	0	0	1	0	0	0	276	1014	35	5	4059	5	ADAMTSL3	15	84659966	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	4911404	84659966	17871426	79	19461											
CHD9	80205	broad.mit.edu	37	16	53338029	53338037	+	In_Frame_Del	DEL	TAAAGGTAT	TAAAGGTAT	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr16:53338029_53338037delTAAAGGTAT	uc002ehb.3	+	29	6275_6283	c.6111_6119delTAAAGGTAT	c.(6109-6120)gctaaaggtatt>gct	p.KGI2038del	CHD9_uc002egy.3_In_Frame_Del_p.KGI2038del|CHD9_uc002ehc.3_In_Frame_Del_p.KGI2038del|CHD9_uc002ehf.3_In_Frame_Del_p.KGI1152del|CHD9_uc002ehg.2_In_Frame_Del_p.KGI1152del|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2038					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCCTAGATGCTAAAGGTATTATTCTAGAG	0.407													-	53338037	TAAAGGTAT	-	53338029	7	5	276	1	0	1	0	1	0	0	0	0	3332	1509	53	0	6229	0	CHD9	16	53338029	In_Frame_Del	DEL	TAAAGGTAT	TCGA-76-6660-01A-11D-1845-08		53338029	37016724	80	19462											
MYH13	8735	broad.mit.edu	37	17	10209843	10209843	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:10209843C>T	uc002gmk.1	-	36	5489	c.5399G>A	c.(5398-5400)cGt>cAt	p.R1800H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1800					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.H1799N(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCATCTAGACGGTGCTGCAG	0.547													T	10209843	C	T	10209843	3	4	276	1	0	0	0	0	1	0	0	0	10032	536	19	1	437	1	MYH13	17	10209843	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		10209843	70985367	81	19463											
MYH8	4626	broad.mit.edu	37	17	10322097	10322097	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:10322097C>A	uc002gmm.2	-	4	471	c.376G>T	c.(376-378)Gtc>Ttc	p.V126F	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	126	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGACGGTGACACAGAAGAGG	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10322097	C	A	10322097	3	1	276	1	0	0	0	0	1	0	0	0	10041	478	17	5	5581	5	MYH8	17	10322097	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	112254	10322097	70873113	82	19464											
XYLT2	64132	broad.mit.edu	37	17	48435599	48435599	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:48435599T>C	uc002iqo.3	+	9	2082	c.1973T>C	c.(1972-1974)cTt>cCt	p.L658P	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	658					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AAAGAGCGTCTTTTCCGGAAC	0.637													C	48435599	T	C	48435599	3	2	276	1	0	0	0	0	1	0	0	0	17461	1609	56	4	2011	4	XYLT2	17	48435599	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	38113502	48435599	32759611	83	19465											
RNF43	54894	broad.mit.edu	37	17	56492699	56492699	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:56492699T>C	uc002iwf.3	-	0	2196	c.240A>G	c.(238-240)ggA>ggG	p.G80G	RNF43_uc010wnv.2_Silent_p.G80G|RNF43_uc002iwh.4_Silent_p.G80G|RNF43_uc002iwg.4_Silent_p.G80G|RNF43_uc010dcw.3_Intron	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	80						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATTAATTTTCCTTCTGCTG	0.378													C	56492699	T	C	56492699	2	2	276	1	0	0	0	0	0	0	0	1	13495	1770	62	4		4	RNF43	17	56492699	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	8057100	56492699	24702511	84	19466											
DDX5	1655	broad.mit.edu	37	17	62502217	62502217	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:62502217G>C	uc010deh.2	-						CEP95_uc002jem.3_5'Flank|CEP95_uc002jen.3_5'Flank|CEP95_uc010wqb.2_5'Flank|DDX5_uc002jek.2_Missense_Mutation_p.D7E|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.D7E|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.						cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CGCGGTCTCGGTCACTCGAAT	0.657			T	ETV4	prostate								C	62502217	G	C	62502217	3	2	276	1	0	0	0	0	1	0	0	0	4367	1252	44	5	1875	5	DDX5	17	62502217	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	6009518	62502217	18692993	85	19467											
LAMA1	284217	broad.mit.edu	37	18	6956660	6956660	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:6956660A>T	uc002knm.3	-	55	8163	c.8069T>A	c.(8068-8070)cTc>cAc	p.L2690H	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.L143H|LAMA1_uc010wzj.2_Missense_Mutation_p.L2166H	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2690					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTGGCAAGAGCTTGCTGTC	0.552													T	6956660	A	T	6956660	3	4	276	1	0	0	0	0	1	0	0	0	8605	304	11	5	1190	5	LAMA1	18	6956660	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		6956660	71120588	86	19468											
RIT2	6014	broad.mit.edu	37	18	40554049	40554049	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:40554049G>T	uc002lav.3	-	2	397	c.224C>A	c.(223-225)aCt>aAt	p.T75N	RIT2_uc010dnf.3_Missense_Mutation_p.T75N	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	75					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGCCAGCAGTGTCCAAGAT	0.368													T	40554049	G	T	40554049	3	4	276	1	0	0	0	0	1	0	0	0	13387	1029	36	5	441	5	RIT2	18	40554049	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	33597389	40554049	37523199	87	19469											
BCL2	596	broad.mit.edu	37	18	60795928	60795929	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:60795928_60795929delAG	uc002lit.1	-	2	1142_1143	c.649_650delCT	c.(649-651)ctgfs	p.L217fs	BCL2_uc002liu.1_Frame_Shift_Del_p.L217fs	NM_000633	NP_000624	P10415	BCL2_HUMAN	Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	217					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CAGAGTCTTCAGAGACAGCCAG	0.545			T	IGH@	"NHL, CLL"								-	60795929	AG	-	60795928	7	5	276	1	0	1	0	1	0	0	0	0	1365	188	7	0	73	0	BCL2	18	60795928	Frame_Shift_Del	DEL	AG	TCGA-76-6660-01A-11D-1845-08	20241879	60795928	17281320	88	19470											
DNM2	1785	broad.mit.edu	37	19	10886491	10886491	+	Silent	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:10886491G>A	uc002mpt.2	+	3	688	c.498G>A	c.(496-498)cgG>cgA	p.R166R	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.R166R|DNM2_uc010dxl.2_Silent_p.R166R|DNM2_uc002mpu.2_Silent_p.R166R|DNM2_uc002mpv.2_Silent_p.R166R	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	166					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCATCAGCCGGGAGAGCAGCC	0.607			"F, N, Splice, Mis, O"		ETP ALL								A	10886491	G	A	10886491	2	1	276	1	0	0	0	0	0	0	0	1	4672	1219	43	3		3	DNM2	19	10886491	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08		10886491	48242492	89	19471											
RGL3	57139	broad.mit.edu	37	19	11526753	11526753	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:11526753G>A	uc002mro.2	-	4	561	c.497C>T	c.(496-498)tCg>tTg	p.S166L	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mrp.2_Missense_Mutation_p.S166L	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	166	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCCCAGGTCCGAATGGGCAGG	0.617													A	11526753	G	A	11526753	3	1	276	1	0	0	0	0	1	0	0	0	13278	1059	37	2	1713	2	RGL3	19	11526753	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	640262	11526753	47602230	90	19472											
ZNF433	163059	broad.mit.edu	37	19	12126556	12126556	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:12126556delA	uc002msy.1	-	3	1297	c.1126delT	c.(1126-1128)tatfs	p.Y376fs	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Del_p.Y341fs	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CTGGGAGAATAAAAGGCTTTC	0.373													-	12126556	A	-	12126556	7	5	276	1	0	1	0	1	0	0	0	0	17904	362	13	0	899	0	ZNF433	19	12126556	Frame_Shift_Del	DEL	A	TCGA-76-6660-01A-11D-1845-08	599803	12126556	47002427	91	19473											
PEG3	5178	broad.mit.edu	37	19	57325278	57325278	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:57325278G>C	uc002qnu.2	-	6	4883	c.4532C>G	c.(4531-4533)aCa>aGa	p.T1511R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.T1482R|PEG3_uc002qnv.2_Missense_Mutation_p.T1511R|PEG3_uc002qnw.2_Missense_Mutation_p.T1387R|PEG3_uc002qnx.2_Missense_Mutation_p.T1385R|PEG3_uc010etr.2_Missense_Mutation_p.T1511R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1511	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		GAAGGTTTCTGTGCATTCATG	0.483													C	57325278	G	C	57325278	3	2	276	1	0	0	0	0	1	0	0	0	11720	1377	48	5	238	5	PEG3	19	57325278	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	45198722	57325278	1803705	92	19474											
PTPRA	5786	broad.mit.edu	37	20	3002794	3002794	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:3002794G>A	uc010zqd.2	+	13	1606	c.1289G>A	c.(1288-1290)gGc>gAc	p.G430D	PTPRA_uc002whj.3_Missense_Mutation_p.G419D|PTPRA_uc002whk.3_Missense_Mutation_p.G410D|PTPRA_uc002whl.3_Missense_Mutation_p.G410D|PTPRA_uc002whm.3_Missense_Mutation_p.G186D|PTPRA_uc002whn.3_Missense_Mutation_p.G410D|PTPRA_uc002who.3_Missense_Mutation_p.G82D	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	419	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACCCCGATCGGCATGCTCAAG	0.572													A	3002794	G	A	3002794	3	1	276	1	0	0	0	0	1	0	0	0	12795	1203	42	3	1302	3	PTPRA	20	3002794	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		3002794	60022726	93	19475											
RIN2	54453	broad.mit.edu	37	20	19981289	19981289	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:19981289C>T	uc002wro.2	+	11	2693	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N	RIN2_uc010gcu.2_Silent_p.N366N|RIN2_uc010gcv.2_Silent_p.N593N	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	799	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGGAGGTCAACAGTGGTTGCA	0.507													T	19981289	C	T	19981289	2	4	276	1	0	0	0	0	0	0	0	1	13372	477	17	3		3	RIN2	20	19981289	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	16978495	19981289	43044231	94	19476											
AURKA	6790	broad.mit.edu	37	20	54963223	54963223	+	Missense_Mutation	SNP	C	C	T	rs6069717		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:54963223C>T	uc002xxe.1	-	2	288	c.31G>A	c.(31-33)Gga>Aga	p.G11R	AURKA_uc002xxf.1_Missense_Mutation_p.G11R|AURKA_uc002xxg.1_Missense_Mutation_p.G11R|AURKA_uc002xxh.1_Missense_Mutation_p.G11R|AURKA_uc002xxi.1_Missense_Mutation_p.G11R|AURKA_uc002xxj.1_Missense_Mutation_p.G11R|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.G11R	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	11			G -> R (in dbSNP:rs6069717).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	p.G11*(2)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TTAACAGGTCCTGAAATGCAG	0.383													T	54963223	C	T	54963223	3	4	276	1	0	0	0	0	1	0	0	0	1221	690	24	3	1212	3	AURKA	20	54963223	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	34981934	54963223	8062297	95	19477											
MORC3	23515	broad.mit.edu	37	21	37732374	37732374	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr21:37732374A>G	uc002yvi.3	+	11	1407	c.1331_splice	c.e11+1	p.R444_splice		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	444					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCCACAGTTCAGGTACCATAG	0.433													G	37732374	A	G	37732374	3	3	276	1	0	0	0	0	1	0	0	0	9703	202	7	4	1372	4	MORC3	21	37732374	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		37732374	10397521	96	19478											
SH3BGR	6450	broad.mit.edu	37	21	40883645	40883645	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr21:40883645C>T	uc002yya.3	+	5	717	c.663C>T	c.(661-663)gcC>gcT	p.A221A	SH3BGR_uc002yxz.3_Silent_p.A110A	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	221	Glu-rich (acidic).				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AAGGGGAAGCCGAGGAGGAGG	0.448													T	40883645	C	T	40883645	2	4	276	1	0	0	0	0	0	0	0	1	14240	639	23	2		2	SH3BGR	21	40883645	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	3151271	40883645	7246250	97	19479											
TPST2	8459	broad.mit.edu	37	22	26937392	26937392	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr22:26937392G>A	uc003acw.3	-	2	546	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	TPST2_uc003acx.3_Missense_Mutation_p.P69S|TPST2_uc011akf.1_Missense_Mutation_p.P69S	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	69					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						AAGATGAGCGGCATGGCCTTG	0.701													A	26937392	G	A	26937392	3	1	276	1	0	0	0	0	1	0	0	0	16425	1203	42	3	944	3	TPST2	22	26937392	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		26937392	24367174	98	19480											
WWC3	55841	broad.mit.edu	37	X	10058926	10058926	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:10058926C>T	uc004csx.4	+	5	691	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	165										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GAAGGAGAGGCGGGACCTGAT	0.423													T	10058926	C	T	10058926	3	4	276	1	0	0	0	0	1	0	0	0	17410	759	27	1	511	1	WWC3	23	10058926	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		10058926	145211634	99	19481											
IGSF1	3547	broad.mit.edu	37	X	130409145	130409145	+	Silent	SNP	C	C	T			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:130409145C>T	uc004ewe.4	-	16	3598	c.3315G>A	c.(3313-3315)aaG>aaA	p.K1105K	IGSF1_uc004ewd.3_Silent_p.K1100K|IGSF1_uc022cdv.1_Silent_p.K1091K|IGSF1_uc004ewf.2_Silent_p.K1080K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1100	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGCCCCCTCCTTCAACAGGA	0.547													T	130409145	C	T	130409145	2	4	276	1	0	0	0	0	0	0	0	1	7596	680	24	3		3	IGSF1	23	130409145	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	120350219	130409145	24861415	100	19482											
MAGEC1	9947	broad.mit.edu	37	X	140995944	140995944	+	Silent	SNP	T	T	C			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:140995944T>C	uc004fbt.3	+	3	3078	c.2754T>C	c.(2752-2754)ttT>ttC	p.F918F	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Silent_p.F577F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	918	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCGCGGTTTCTTCTCCTCA	0.483										HNSCC(15;0.026)			C	140995944	T	C	140995944	2	2	276	1	0	0	0	0	0	0	0	1	9180	1780	62	4		4	MAGEC1	23	140995944	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	10586799	140995944	14274616	101	19483											
OXCT2	64064	broad.mit.edu	37	1	40235523	40235523	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:40235523C>T	uc001ceb.1	-	0	1498	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	469					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	ACGGCCTTCTCGGTGATGATG	0.592													T	40235523	C	T	40235523	3	4	277	1	0	0	0	0	1	0	0	0	11330	893	31	2	152	2	OXCT2	1	40235523	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		40235523	209015098	1	19484											
DMRTB1	63948	broad.mit.edu	37	1	53930361	53930361	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:53930361C>T	uc001cvq.1	+	2	857	c.802C>T	c.(802-804)Ccg>Tcg	p.P268S		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	268	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						gccgccgccgccgccgccact	0.682													T	53930361	C	T	53930361	3	4	277	1	0	0	0	0	1	0	0	0	4590	739	26	3	812	3	DMRTB1	1	53930361	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	13694838	53930361	195320260	2	19485											
SELE	6401	broad.mit.edu	37	1	169698648	169698648	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:169698648G>A	uc001ggm.4	-	5	1039	c.882C>T	c.(880-882)aaC>aaT	p.N294N	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	294	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGGCTTCTCGTTGTCCCAAT	0.458													A	169698648	G	A	169698648	2	1	277	1	0	0	0	0	0	0	0	1	14013	1136	40	1		1	SELE	1	169698648	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	115768287	169698648	79551973	3	19486											
USH2A	7399	broad.mit.edu	37	1	215931985	215931985	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:215931985T>C	uc001hku.1	-	57	11728	c.11341A>G	c.(11341-11343)Atc>Gtc	p.I3781V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3781	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		ATTACTGTGATATTATATGGA	0.353										HNSCC(13;0.011)			C	215931985	T	C	215931985	3	2	277	1	0	0	0	0	1	0	0	0	17033	1406	49	4	4327	4	USH2A	1	215931985	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	46233337	215931985	33318636	4	19487											
OR2T4	127074	broad.mit.edu	37	1	248525822	248525822	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:248525822A>T	uc001ieh.1	+	0	940	c.940A>T	c.(940-942)Act>Tct	p.T314S		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T314T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TACCATCCTCACTCCAGTGGT	0.463													T	248525822	A	T	248525822	3	4	277	1	0	0	0	0	1	0	0	0	11027	159	6	5	942	5	OR2T4	1	248525822	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	32593837	248525822	724799	5	19488											
MERTK	10461	broad.mit.edu	37	2	112785992	112785992	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:112785992A>G	uc002thk.1	+	18	2673	c.2551A>G	c.(2551-2553)Agg>Ggg	p.R851G	MERTK_uc002thl.1_Missense_Mutation_p.R675G	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	851	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTCAGTATTGAGGCTGCAGCT	0.453													G	112785992	A	G	112785992	3	3	277	1	0	0	0	0	1	0	0	0	9479	295	11	4	2625	4	MERTK	2	112785992	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		112785992	130413381	6	19489											
TTN	7273	broad.mit.edu	37	2	179594237	179594237	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:179594237C>T	uc021vsy.1	-	60	15139	c.14914G>A	c.(14914-14916)Gtg>Atg	p.V4972M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1633M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5899	Ig-like 30.						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)			TCCAGCTCCACGTCACTATAT	0.448													T	179594237	C	T	179594237	3	4	277	1	0	0	0	0	1	0	0	0	16732	536	19	1	86079	1	TTN	2	179594237	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	66808245	179594237	63605136	7	19490											
PIKFYVE	200576	broad.mit.edu	37	2	209153464	209153464	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:209153464C>T	uc002vcz.3	+	6	991	c.833C>T	c.(832-834)cCa>cTa	p.P278L	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P278L|PIKFYVE_uc002vcw.3_Missense_Mutation_p.P278L|PIKFYVE_uc002vcv.3_Missense_Mutation_p.P181L|PIKFYVE_uc002vcx.3_Missense_Mutation_p.P192L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	278					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGATTCATCCAGATTCCTCA	0.343													T	209153464	C	T	209153464	3	4	277	1	0	0	0	0	1	0	0	0	11924	594	21	3	855	3	PIKFYVE	2	209153464	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	29559227	209153464	34045909	8	19491											
COL4A4	1286	broad.mit.edu	37	2	227942664	227942664	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942664C>T	uc021vxr.1	-	23	2034	c.1933G>A	c.(1933-1935)Gga>Aga	p.G645R	COL4A4_uc021vxs.1_Missense_Mutation_p.G645R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	645	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGAACTCCTGGGTGGCCT	0.532													T	227942664	C	T	227942664	3	4	277	1	0	0	0	0	1	0	0	0	3693	690	24	3	3235	3	COL4A4	2	227942664	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	18789200	227942664	15256709	9	19492			1	42		3	3	36	C		2.704413e-09
COL4A4	1286	broad.mit.edu	37	2	227942679	227942679	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942679C>T	uc021vxr.1	-	23	2019	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	COL4A4_uc021vxs.1_Missense_Mutation_p.E640K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	640	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGCCTCGCTCTCCTGGTGGA	0.552													T	227942679	C	T	227942679	3	4	277	1	0	0	0	0	1	0	0	0	3693	922	32	3	3250	3	COL4A4	2	227942679	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	15	227942679	15256694	10	19493			1	42		3	3	36	C		2.704413e-09
COL4A4	1286	broad.mit.edu	37	2	227942699	227942699	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942699C>T	uc021vxr.1	-	23	1999	c.1898G>A	c.(1897-1899)gGa>gAa	p.G633E	COL4A4_uc021vxs.1_Missense_Mutation_p.G633E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	633	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAGGAAATCCCAGTCCTGG	0.602													T	227942699	C	T	227942699	3	4	277	1	0	0	0	0	1	0	0	0	3693	855	30	3	3270	3	COL4A4	2	227942699	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	20	227942699	15256674	11	19494			1	42		3	3	36	C		2.704413e-09
LAMP3	27074	broad.mit.edu	37	3	182871533	182871533	+	Silent	SNP	G	G	A	rs140803277	by1000genomes	TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:182871533G>A	uc003flh.4	-	1	920	c.696C>T	c.(694-696)aaC>aaT	p.N232N		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	232					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTCTGCTTCCGTTTAGAACCT	0.502													A	182871533	G	A	182871533	2	1	277	1	0	0	0	0	0	0	0	1	8619	1136	40	1		1	LAMP3	3	182871533	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08		182871533	15150897	12	19495											
EPHB3	2049	broad.mit.edu	37	3	184295702	184295702	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:184295702G>A	uc003foz.3	+	7	2093	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	552						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGGCCCAGCAGCTCCAGGAGC	0.637													A	184295702	G	A	184295702	2	1	277	1	0	0	0	0	0	0	0	1	5176	962	34	3		3	EPHB3	3	184295702	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	1424169	184295702	13726728	13	19496											
C3orf70	285382	broad.mit.edu	37	3	184870498	184870498	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:184870498G>A	uc003fpd.3	-	0	305	c.114C>T	c.(112-114)tgC>tgT	p.C38C		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	Homo sapiens chromosome 3 open reading frame 70 (C3orf70), mRNA.	38										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ACAGCCCGTCGCACGGCTGGA	0.642													A	184870498	G	A	184870498	2	1	277	1	0	0	0	0	0	0	0	1	2242	1079	38	1		1	C3orf70	3	184870498	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	574796	184870498	13151932	14	19497											
LIAS	11019	broad.mit.edu	37	4	39462478	39462478	+	Silent	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr4:39462478C>A	uc003guf.3	+	1	187	c.114C>A	c.(112-114)ctC>ctA	p.L38L	RPL9_uc003gub.3_5'Flank|RPL9_uc003guc.3_5'Flank|RPL9_uc011byk.2_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.4_Silent_p.L38L|LIAS_uc011bym.2_Silent_p.L38L|LIAS_uc003gug.3_Silent_p.L38L	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	AAAAGGAACTCCTACAGAATG	0.398													A	39462478	C	A	39462478	2	1	277	1	0	0	0	0	0	0	0	1	8778	842	30	5		5	LIAS	4	39462478	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08		39462478	151691798	15	19498											
FBN2	2201	broad.mit.edu	37	5	127674667	127674667	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:127674667C>A	uc003kuu.3	-	25	3869	c.3430G>T	c.(3430-3432)Gaa>Taa	p.E1144*	FBN2_uc003kuv.2_Nonsense_Mutation_p.E1111*	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1144	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.E1144K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATAGCCTTCGAAGCACTCG	0.507													A	127674667	C	A	127674667	4	1	277	1	0	0	0	0	0	1	0	0	5703	893	31	5	5468	5	FBN2	5	127674667	Nonsense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		127674667	53240593	16	19499											
ADAMTS19	171019	broad.mit.edu	37	5	128862027	128862027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:128862027C>T	uc003kvb.1	+	3	946	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	316					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAGAGGGAAACGATATTCATA	0.398													T	128862027	C	T	128862027	4	4	277	1	0	0	0	0	0	1	0	0	264	528	19	1	960	1	ADAMTS19	5	128862027	Nonsense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	1187360	128862027	52053233	17	19500											
PCDHAC2	56143	broad.mit.edu	37	5	140203028	140203028	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:140203028C>T	uc003lhl.2	+	0	1668	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.D556D|PCDHAC2_uc003lhj.1_Silent_p.D556D	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	571	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.706													T	140203028	C	T	140203028	2	4	277	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHAC2	5	140203028	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08	11341001	140203028	40712232	18	19501											
PCDHB5	26167	broad.mit.edu	37	5	140515027	140515027	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:140515027C>T	uc003liq.3	+	0	228	c.11C>T	c.(10-12)gCg>gTg	p.A4V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAGACTGCGCTAGCAAAA	0.458													T	140515027	C	T	140515027	3	4	277	1	0	0	0	0	1	0	0	0	11545	768	27	1	13	1	PCDHB5	5	140515027	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	311999	140515027	40400233	19	19502											
DDX41	51428	broad.mit.edu	37	5	176941751	176941751	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:176941751G>C	uc003mho.3	-	8	907	c.886C>G	c.(886-888)Ctc>Gtc	p.L296V	DDX41_uc003mhn.3_Missense_Mutation_p.L165V|DDX41_uc003mhp.3_Missense_Mutation_p.L165V|DDX41_uc003mhq.1_Missense_Mutation_p.L76V	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	296	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					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)			CCAATGCAGAGGGCGCAGCGC	0.662													C	176941751	G	C	176941751	3	2	277	1	0	0	0	0	1	0	0	0	4361	1000	35	5	1018	5	DDX41	5	176941751	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	36426724	176941751	3973509	20	19503											
MAML1	9794	broad.mit.edu	37	5	179201198	179201198	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:179201198A>C	uc003mkm.3	+	4	2634	c.2371A>C	c.(2371-2373)Acc>Ccc	p.T791P	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	791					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCAGAACACCTCCGTCTC	0.592													C	179201198	A	C	179201198	3	2	277	1	0	0	0	0	1	0	0	0	9205	159	6	5	2389	5	MAML1	5	179201198	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	2259447	179201198	1714062	21	19504											
GTF3C6	112495	broad.mit.edu	37	6	111288823	111288823	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr6:111288823G>T	uc003pum.3	+	5	682	c.472G>T	c.(472-474)Gat>Tat	p.D158Y		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 6, alpha 35kDa (GTF3C6), mRNA.	158						transcription factor TFIIIC complex	DNA binding|protein binding	p.P157Q(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TTCAGCCCCAGATAAATCTTT	0.383													T	111288823	G	T	111288823	3	4	277	1	0	0	0	0	1	0	0	0	6877	942	33	5	494	5	GTF3C6	6	111288823	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		111288823	59826244	22	19505											
NMBR	4829	broad.mit.edu	37	6	142409496	142409496	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr6:142409496G>A	uc003qiu.3	-	0	441	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	100					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	p.V99L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGCGCGAGGCGTCCACCGGGA	0.592													A	142409496	G	A	142409496	2	1	277	1	0	0	0	0	0	0	0	1	10487	1136	40	1		1	NMBR	6	142409496	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	31120673	142409496	28705571	23	19506											
HECW1	23072	broad.mit.edu	37	7	43351508	43351508	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:43351508C>T	uc003tid.1	+	3	779	c.174C>T	c.(172-174)caC>caT	p.H58H	HECW1_uc011kbi.1_Silent_p.H58H|HECW1_uc003tie.1_Silent_p.H90H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	58					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCGGCCCCCACGATGGCGTCA	0.632													T	43351508	C	T	43351508	2	4	277	1	0	0	0	0	0	0	0	1	7042	535	19	1		1	HECW1	7	43351508	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08		43351508	115787155	24	19507											
EGFR	1956	broad.mit.edu	37	7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:55223543C>T	uc003tqk.3	+	7	1156	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	304					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGACAGATCACGGCTCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55223543	C	T	55223543	3	4	277	1	0	0	0	0	1	0	0	0	4967	826	29	3	940	3	EGFR	7	55223543	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	11872035	55223543	103915120	25	19508											
FZD9	8326	broad.mit.edu	37	7	72849307	72849307	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:72849307G>A	uc003tyb.3	+	0	1199	c.970G>A	c.(970-972)Ggc>Agc	p.G324S		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	324					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTACTACTTCGGCATGGCCAG	0.657													A	72849307	G	A	72849307	3	1	277	1	0	0	0	0	1	0	0	0	6137	1116	39	2	972	2	FZD9	7	72849307	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	17625764	72849307	86289356	26	19509											
SEMA3E	9723	broad.mit.edu	37	7	82997104	82997104	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:82997104C>A	uc003uhy.2	-	16	2747	c.2126G>T	c.(2125-2127)tGg>tTg	p.W709L	SEMA3E_uc022agy.1_Missense_Mutation_p.W649L	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	709					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCCTTGTACCATGGTTTTGC	0.463													A	82997104	C	A	82997104	3	1	277	1	0	0	0	0	1	0	0	0	14028	595	21	5	205	5	SEMA3E	7	82997104	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	10147797	82997104	76141559	27	19510											
CYP3A7	1577	broad.mit.edu	37	7	99261679	99261679	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:99261679T>G	uc003urq.3	-	7	812	c.710A>C	c.(709-711)aAt>aCt	p.N237T	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.N124T|CYP3A7_uc011kiy.2_Missense_Mutation_p.N227T|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	237					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAGAGAGACATTTAATGCTTC	0.328													G	99261679	T	G	99261679	3	3	277	1	0	0	0	0	1	0	0	0	4181	1493	52	5		5	CYP3A7	7	99261679	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	16264575	99261679	59876984	28	19511											
ASZ1	136991	broad.mit.edu	37	7	117067470	117067470	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:117067470G>A	uc003vjb.2	-	0	108	c.45C>T	c.(43-45)ggC>ggT	p.G15G	ASZ1_uc011kno.1_Silent_p.G15G|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	15					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			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)			CGCTACTCTCGCCTCCGCCAG	0.662											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	117067470	G	A	117067470	2	1	277	1	0	0	0	0	0	0	0	1	1069	1074	38	1		1	ASZ1	7	117067470	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	17805791	117067470	42071193	29	19512											
CHPF2	54480	broad.mit.edu	37	7	150934492	150934492	+	Silent	SNP	C	C	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:150934492C>G	uc003wjr.1	+	3	2557	c.1044C>G	c.(1042-1044)ccC>ccG	p.P348P	CHPF2_uc003wjq.1_Silent_p.P340P|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	348						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGCTGACCCCCGAAGGGGAGG	0.627													G	150934492	C	G	150934492	2	3	277	1	0	0	0	0	0	0	0	1	3369	639	23	5		5	CHPF2	7	150934492	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08	33867022	150934492	8204171	30	19513											
RP1L1	94137	broad.mit.edu	37	8	10469501	10469501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:10469501G>A	uc003wtc.3	-	3	2336	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	703					intracellular signal transduction					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)		CCAGAATATCGTGGCACTGAG	0.617													A	10469501	G	A	10469501	4	1	277	1	0	0	0	0	0	1	0	0	13533	1153	40	1	5099	1	RP1L1	8	10469501	Nonsense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		10469501	135894521	31	19514											
BLK	640	broad.mit.edu	37	8	11406564	11406564	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:11406564G>A	uc003wty.3	+	4	882	c.301G>A	c.(301-303)Gtc>Atc	p.V101I		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	101	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.V101I(2)|p.L100L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAGGTCACTCGTCACAGGAAG	0.592													A	11406564	G	A	11406564	3	1	277	1	0	0	0	0	1	0	0	0	1444	1145	40	1	315	1	BLK	8	11406564	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	937063	11406564	134957458	32	19515											
SPATC1	375686	broad.mit.edu	37	8	145095802	145095802	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:145095802G>A	uc011lkw.2	+	2	1202	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	SPATC1_uc011lkx.2_Missense_Mutation_p.R367Q	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	367										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCTTCCCGAATGCATAAT	0.642													A	145095802	G	A	145095802	3	1	277	1	0	0	0	0	1	0	0	0	15016	1058	37	2	1110	2	SPATC1	8	145095802	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	133689238	145095802	1268220	33	19516											
PIP5KL1	138429	broad.mit.edu	37	9	130689473	130689473	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr9:130689473G>A	uc011mao.2	-	6	654	c.609C>T	c.(607-609)gtC>gtT	p.V203V	PIP5KL1_uc004bsu.3_5'UTR	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.	203	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CGCTCTGCATGACGATGAAGT	0.697													A	130689473	G	A	130689473	2	1	277	1	0	0	0	0	0	0	0	1	11942	1277	45	3		3	PIP5KL1	9	130689473	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08		130689473	10523958	34	19517											
GRID1	2894	broad.mit.edu	37	10	87628864	87628864	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr10:87628864A>G	uc001kdl.1	-	5	955	c.854T>C	c.(853-855)tTt>tCt	p.F285S	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	285						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I284F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGCAGACGGAAAGATTTGCCG	0.542										Multiple Myeloma(13;0.14)			G	87628864	A	G	87628864	3	3	277	1	0	0	0	0	1	0	0	0	6771	14	1	4	2219	4	GRID1	10	87628864	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		87628864	47905883	35	19518											
PTEN	5728	broad.mit.edu	37	10	89720664	89720664	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr10:89720664A>C	uc001kfb.3	+	7	1847	c.815A>C	c.(814-816)cAc>cCc	p.H272P	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	272	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F271S(2)|p.H272R(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.F271L(1)|p.G165_K342del(1)|p.H272Y(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAATGTTTCACTTTTGGGTA	0.269		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89720664	A	C	89720664	3	2	277	1	0	0	0	0	1	0	0	0	12738	159	6	5	845	5	PTEN	10	89720664	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	2091800	89720664	45814083	36	19519											
KCNA4	3739	broad.mit.edu	37	11	30033088	30033088	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:30033088C>A	uc021qfi.1	-	0	1138	c.1138G>T	c.(1138-1140)Gta>Tta	p.V380L	KCNA4_uc001msk.3_Missense_Mutation_p.V380L	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	380						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GAAAACCATACAATACAGACT	0.433													A	30033088	C	A	30033088	3	1	277	1	0	0	0	0	1	0	0	0	8005	478	17	5	827	5	KCNA4	11	30033088	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		30033088	104973428	37	19520											
OR5A1	219982	broad.mit.edu	37	11	59211187	59211187	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:59211187C>T	uc001nnx.1	+	0	546	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACTTCTTCTGCGACCTCCCAC	0.537													T	59211187	C	T	59211187	2	4	277	1	0	0	0	0	0	0	0	1	11139	776	27	1		1	OR5A1	11	59211187	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08	29178099	59211187	75795329	38	19521											
TMEM109	79073	broad.mit.edu	37	11	60687316	60687316	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:60687316G>C	uc001nqg.3	+	1	529	c.151G>C	c.(151-153)Gtt>Ctt	p.V51L		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	51						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGAAGCCCCAGTTGATGTCTT	0.557													C	60687316	G	C	60687316	3	2	277	1	0	0	0	0	1	0	0	0	16022	1029	36	5	153	5	TMEM109	11	60687316	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	1476129	60687316	74319200	39	19522											
RIN1	9610	broad.mit.edu	37	11	66102539	66102539	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:66102539C>T	uc001ohn.1	-	5	858	c.731G>A	c.(730-732)aGc>aAc	p.S244N	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.S139N|RIN1_uc010rpa.1_Missense_Mutation_p.S139N	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	244					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACTTTGAAGCTTCTCTTGAA	0.662													T	66102539	C	T	66102539	3	4	277	1	0	0	0	0	1	0	0	0	13371	797	28	3	1640	3	RIN1	11	66102539	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	5415223	66102539	68903977	40	19523											
NLRX1	79671	broad.mit.edu	37	11	119044727	119044727	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:119044727G>A	uc001pvu.3	+	4	984	c.769G>A	c.(769-771)Gga>Aga	p.G257R	NLRX1_uc010rzc.1_Missense_Mutation_p.G79R|NLRX1_uc001pvv.3_Missense_Mutation_p.G257R|NLRX1_uc001pvw.3_Missense_Mutation_p.G257R|NLRX1_uc001pvx.3_Missense_Mutation_p.G257R	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	257	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.T256T(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCAGGCACGGGACTTTGTAG	0.592													A	119044727	G	A	119044727	3	1	277	1	0	0	0	0	1	0	0	0	10485	1233	43	3	783	3	NLRX1	11	119044727	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	52942188	119044727	15961789	41	19524											
KDM5A	5927	broad.mit.edu	37	12	402172	402172	+	Nonsense_Mutation	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:402172A>C	uc001qif.1	-	26	4982	c.4619T>G	c.(4618-4620)tTa>tGa	p.L1540*	KDM5A_uc021qsr.1_Nonsense_Mutation_p.L91*	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1540	Lys-rich.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K1540M(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTCTGCACCTAATTTTAATTT	0.378			T	NUP98	AML								C	402172	A	C	402172	4	2	277	1	0	0	0	0	0	1	0	0	8133	372	13	5	461	5	KDM5A	12	402172	Nonsense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		402172	133449723	42	19525											
CD163	9332	broad.mit.edu	37	12	7639177	7639177	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:7639177T>A	uc001qsz.3	-	9	2504	c.2376A>T	c.(2374-2376)gaA>gaT	p.E792D	CD163_uc001qta.3_Missense_Mutation_p.E792D|CD163_uc009zfw.2_Missense_Mutation_p.E825D	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	792	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						AAATGCGGGATTCTTTTCCAT	0.512													A	7639177	T	A	7639177	3	1	277	1	0	0	0	0	1	0	0	0	2967	1490	52	5	1122	5	CD163	12	7639177	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	7237005	7639177	126212718	43	19526											
HOXC9	3225	broad.mit.edu	37	12	54396220	54396220	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:54396220C>T	uc001seq.3	+	1	641	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_006897	NP_008828	P31274	HXC9_HUMAN	Homo sapiens homeobox C9 (HOXC9), mRNA.	182					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCAGGCAACCCCGTGGCCAAC	0.577													T	54396220	C	T	54396220	3	4	277	1	0	0	0	0	1	0	0	0	7317	623	22	3	551	3	HOXC9	12	54396220	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	46757043	54396220	79455675	44	19527											
LRP1	4035	broad.mit.edu	37	12	57581220	57581220	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:57581220G>A	uc001snd.3	+	41	7478	c.7012G>A	c.(7012-7014)Gtt>Att	p.V2338I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2338					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			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)	ACGGGCCTTCGTTTTGGACGA	0.632													A	57581220	G	A	57581220	3	1	277	1	0	0	0	0	1	0	0	0	8951	1145	40	1	7178	1	LRP1	12	57581220	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	3185000	57581220	76270675	45	19528											
SBNO1	55206	broad.mit.edu	37	12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:123782584C>T	uc010tap.2	-	29	3980	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Missense_Mutation_p.G1326D|SBNO1_uc010taq.2_Missense_Mutation_p.G278D	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1327							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CACGTTTGTGCCACTGACAGA	0.428													T	123782584	C	T	123782584	3	4	277	1	0	0	0	0	1	0	0	0	13862	739	26	3	209	3	SBNO1	12	123782584	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	66201364	123782584	10069311	46	19529											
MTHFD1	4522	broad.mit.edu	37	14	64882182	64882182	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr14:64882182A>G	uc001xhb.3	+	4	734	c.347A>G	c.(346-348)aAt>aGt	p.N116S	MTHFD1_uc010aqe.2_Missense_Mutation_p.N152S|MTHFD1_uc010aqf.3_Missense_Mutation_p.N172S	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	116	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GAAGTGATCAATGCTATTGCA	0.383													G	64882182	A	G	64882182	3	3	277	1	0	0	0	0	1	0	0	0	9927	101	4	4	365	4	MTHFD1	14	64882182	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		64882182	42467358	47	19530											
CCDC88C	440193	broad.mit.edu	37	14	91770270	91770270	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr14:91770270G>A	uc010aty.3	-	19	3564	c.3410C>T	c.(3409-3411)aCg>aTg	p.T1137M		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1137					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCAGCAGCGTGTACTGCGC	0.657													A	91770270	G	A	91770270	3	1	277	1	0	0	0	0	1	0	0	0	2865	1145	40	1	2720	1	CCDC88C	14	91770270	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	26888088	91770270	15579270	48	19531											
ATF7IP2	80063	broad.mit.edu	37	16	10527480	10527480	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:10527480G>C	uc002czw.3	+	2	1093	c.934G>C	c.(934-936)Gaa>Caa	p.E312Q	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.E312Q|ATF7IP2_uc002czv.3_Missense_Mutation_p.E312Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGTAAGTTTGGAAAGGCAAAC	0.328													C	10527480	G	C	10527480	3	2	277	1	0	0	0	0	1	0	0	0	1088	1175	41	5	940	5	ATF7IP2	16	10527480	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		10527480	79827273	49	19532											
VWA3A	146177	broad.mit.edu	37	16	22137566	22137566	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:22137566C>T	uc010vbq.2	+	16	1696	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.R542W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	534	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCACTCCCTGCGGCTGCTGCT	0.512													T	22137566	C	T	22137566	3	4	277	1	0	0	0	0	1	0	0	0	17237	759	27	1	1666	1	VWA3A	16	22137566	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	11610086	22137566	68217187	50	19533											
PLCG2	5336	broad.mit.edu	37	16	81942086	81942086	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:81942086G>A	uc002fgt.3	+	16	1801	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	PLCG2_uc010chg.1_Silent_p.T541T	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	541	SH2 1.		T -> A (in dbSNP:rs11548657).		intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGAAGAGGACGAGTGCCGAGA	0.552													A	81942086	G	A	81942086	2	1	277	1	0	0	0	0	0	0	0	1	12036	1045	37	2		2	PLCG2	16	81942086	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	59804520	81942086	8412667	51	19534											
UBTF	7343	broad.mit.edu	37	17	42284949	42284949	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr17:42284949T>C	uc010czs.3	-	19	2338	c.2042A>G	c.(2041-2043)gAt>gGt	p.D681G	UBTF_uc002igc.3_Missense_Mutation_p.D644G|UBTF_uc002igd.3_Missense_Mutation_p.D644G|UBTF_uc010czt.3_Missense_Mutation_p.D681G	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	681	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		atcctcttcatcatcctcctc	0.592													C	42284949	T	C	42284949	3	2	277	1	0	0	0	0	1	0	0	0	16906	1435	50	4	260	4	UBTF	17	42284949	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08		42284949	38910261	52	19535											
DSC2	1824	broad.mit.edu	37	18	28671015	28671015	+	Silent	SNP	A	A	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:28671015A>C	uc002kwl.4	-	3	904	c.450T>G	c.(448-450)ggT>ggG	p.G150G	DSC2_uc002kwk.4_Silent_p.G150G	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	150	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTGGAAAAGGACCCAAGGAGT	0.408													C	28671015	A	C	28671015	2	2	277	1	0	0	0	0	0	0	0	1	4766	262	10	5		5	DSC2	18	28671015	Silent	SNP	A	TCGA-76-6661-01B-11D-1845-08		28671015	49406233	53	19536											
DSG3	1830	broad.mit.edu	37	18	29046498	29046498	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:29046498A>T	uc002kws.3	+	10	1526	c.1417A>T	c.(1417-1419)Acg>Tcg	p.T473S		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	473	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.T473T(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TACAGAATACACGGGTAAAAC	0.358													T	29046498	A	T	29046498	3	4	277	1	0	0	0	0	1	0	0	0	4778	159	6	5	1459	5	DSG3	18	29046498	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	375483	29046498	49030750	54	19537											
NEDD4L	23327	broad.mit.edu	37	18	55916158	55916158	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:55916158delT	uc002lgy.3	+	3	515	c.232delT	c.(232-234)tttfs	p.F78fs	NEDD4L_uc002lgz.3_Frame_Shift_Del_p.F78fs|NEDD4L_uc002lgx.3_Frame_Shift_Del_p.F78fs|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhf.3_5'UTR|NEDD4L_uc010dpl.2_Non-coding_Transcript|NEDD4L_uc002lhg.3_5'UTR|NEDD4L_uc002lhh.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	78	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.E77Q(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GAATGAAGAATTTTATTTCAG	0.313													-	55916158	T	-	55916158	7	5	277	1	0	1	0	1	0	0	0	0	10311	1493	52	0	274	0	NEDD4L	18	55916158	Frame_Shift_Del	DEL	T	TCGA-76-6661-01B-11D-1845-08	26869660	55916158	22161090	55	19538											
CREB3L3	84699	broad.mit.edu	37	19	4171163	4171163	+	Silent	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:4171163C>T	uc002lzl.3	+	7	1082	c.966C>T	c.(964-966)acC>acT	p.T322T	CREB3L3_uc002lzm.3_Silent_p.T312T|CREB3L3_uc010xib.2_Silent_p.T311T|CREB3L3_uc010xic.2_Silent_p.L278L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	322					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACAGGCACCTGTGTCGCAG	0.602													T	4171163	C	T	4171163	2	4	277	1	0	0	0	0	0	0	0	1	3858	668	24	3		3	CREB3L3	19	4171163	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08		4171163	54957820	56	19539											
MYO1F	4542	broad.mit.edu	37	19	8616651	8616651	+	Silent	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:8616651G>A	uc002mkg.3	-	7	882	c.744C>T	c.(742-744)gaC>gaT	p.D248D	MYO1F_uc010xkf.2_3'UTR	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	248	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.D248D(2)		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						CGCTTCTGTCGTCCGTGCCGT	0.582													A	8616651	G	A	8616651	2	1	277	1	0	0	0	0	0	0	0	1	10073	1136	40	1		1	MYO1F	19	8616651	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	4445488	8616651	50512332	57	19540											
JAK3	3718	broad.mit.edu	37	19	17937673	17937673	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:17937673C>T	uc002nhn.4	-	23	3354	c.3254G>A	c.(3253-3255)cGg>cAg	p.R1085Q	JAK3_uc010ebh.3_Intron	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	1085	Protein kinase 2.				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			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						GAATGATGGCCGGTCCTGTGG	0.632		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								T	17937673	C	T	17937673	3	4	277	1	0	0	0	0	1	0	0	0	7939	652	23	2	124	2	JAK3	19	17937673	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	9321022	17937673	41191310	58	19541											
PAK4	10298	broad.mit.edu	37	19	39665625	39665625	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:39665625T>C	uc002okj.1	+	6	1614	c.1153T>C	c.(1153-1155)Tac>Cac	p.Y385H	PAK4_uc002okl.1_Missense_Mutation_p.Y385H|PAK4_uc002okn.1_Missense_Mutation_p.Y385H|PAK4_uc002okm.1_Missense_Mutation_p.Y232H|PAK4_uc002oko.1_Missense_Mutation_p.Y232H|PAK4_uc002okp.1_Missense_Mutation_p.Y295H	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	385	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GTACAACAGCTACCTGGTGGG	0.617													C	39665625	T	C	39665625	3	2	277	1	0	0	0	0	1	0	0	0	11403	1522	53	4	1167	4	PAK4	19	39665625	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	21727952	39665625	19463358	59	19542											
ZNF8	7554	broad.mit.edu	37	19	58805490	58805490	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:58805490G>A	uc002qry.1	+	3	446	c.316G>A	c.(316-318)Gca>Aca	p.A106T	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		TGAAAGCCAAGCATCACGCAA	0.542													A	58805490	G	A	58805490	3	1	277	1	0	0	0	0	1	0	0	0	18164	971	34	3	330	3	ZNF8	19	58805490	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	19139865	58805490	323493	60	19543											
BPI	671	broad.mit.edu	37	20	36964027	36964027	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr20:36964027C>T	uc002xib.2	+	13	1438	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	459					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TTCCCTCTCCCGACGCCGGCC	0.557													T	36964027	C	T	36964027	3	4	277	1	0	0	0	0	1	0	0	0	1490	652	23	2	1430	2	BPI	20	36964027	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		36964027	26061493	61	19544											
TTPAL	79183	broad.mit.edu	37	20	43118147	43118147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr20:43118147C>T	uc002xmc.1	+	5	1118	c.994C>T	c.(994-996)Cga>Tga	p.R332*	TTPAL_uc002xmd.1_Nonsense_Mutation_p.R332*|TTPAL_uc010ggr.1_Nonsense_Mutation_p.R145*	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	332						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CGACTCCTTGCGAGCTGTGAA	0.547													T	43118147	C	T	43118147	4	4	277	1	0	0	0	0	0	1	0	0	16734	760	27	1	1008	1	TTPAL	20	43118147	Nonsense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	6154120	43118147	19907373	62	19545											
RIPK4	54101	broad.mit.edu	37	21	43162031	43162031	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr21:43162031A>T	uc002yzn.1	-	7	1370	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	441						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.L441L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGGTGCAGCAGGCTGGCACC	0.637													T	43162031	A	T	43162031	3	4	277	1	0	0	0	0	1	0	0	0	13383	188	7	5	1036	5	RIPK4	21	43162031	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		43162031	4967864	63	19546											
MAGEC3	139081	broad.mit.edu	37	X	140983301	140983301	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrX:140983301G>A	uc011mwp.2	+	5	1079	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	MAGEC3_uc004fbs.3_Intron|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	360	MAGE 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)					GAAGATGGCCGCCGAGGGCTG	0.607													A	140983301	G	A	140983301	3	1	277	1	0	0	0	0	1	0	0	0	9182	1087	38	1	1101	1	MAGEC3	23	140983301	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		140983301	14287259	64	19547											
ARHGAP4	393	broad.mit.edu	37	X	153175809	153175809	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrX:153175809C>T	uc004fjk.2	-	16	2030	c.1972G>A	c.(1972-1974)Gtg>Atg	p.V658M	ARHGAP4_uc011mzf.2_Missense_Mutation_p.V635M|ARHGAP4_uc004fjl.2_Missense_Mutation_p.V698M|ARHGAP4_uc010nup.2_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	658	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|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)					CCGAAGCACACGGCCAGGTTG	0.677													T	153175809	C	T	153175809	3	4	277	1	0	0	0	0	1	0	0	0	885	536	19	1	892	1	ARHGAP4	23	153175809	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	12192508	153175809	2094751	65	19548											
PCDH11Y	83259	broad.mit.edu	37	Y	4966872	4966872	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrY:4966872C>T	uc004fqo.3	+	1	1987	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	PCDH11Y_uc010nwg.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fql.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqm.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqn.1_Missense_Mutation_p.T418M|PCDH11Y_uc004fqp.1_Missense_Mutation_p.T189M	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	418	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T407M(1)|p.T418M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATAACTGTGACGGATAAGGAT	0.413													T	4966872	C	T	4966872	3	4	277	1	0	0	0	0	1	0	0	0	11509	536	19	1	1295	1	PCDH11Y	24	4966872	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		4966872	54406694	66	19549											
AMY2B	280	broad.mit.edu	37	1	104116388	104116388	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:104116388G>A	uc010ouo.2	+	15	2276	c.572G>A	c.(571-573)cGt>cAt	p.R191H	AMY2B_uc001duq.3_Missense_Mutation_p.R191H|AMY2B_uc001dur.3_Missense_Mutation_p.R191H|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	191					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.R191C(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GATTATGTGCGTTCCAAGATT	0.413													A	104116388	G	A	104116388	3	1	278	1	0	0	0	0	1	0	0	0	595	1145	40	1	586	1	AMY2B	1	104116388	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		104116388	145134233	1	19550											
TCHH	7062	broad.mit.edu	37	1	152080354	152080354	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:152080354C>T	uc009wne.1	-	2	5611	c.5339G>A	c.(5338-5340)cGc>cAc	p.R1780H	TCHH_uc001ezp.2_Missense_Mutation_p.R1780H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1780	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTCCTGGCGGAGCTGTTC	0.592													T	152080354	C	T	152080354	3	4	278	1	0	0	0	0	1	0	0	0	15697	768	27	1	496	1	TCHH	1	152080354	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	47963966	152080354	97170267	2	19551											
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:204135375_204135377delAGC	uc001haq.2	-	0	89_91	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													-	204135377	AGC	-	204135375	7	5	278	1	0	1	0	1	0	0	0	0	13224	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-76-6662-01A-11D-1845-08	52055021	204135375	45115246	3	19552											
OR2L3	391192	broad.mit.edu	37	1	248224733	248224733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:248224733C>A	uc001idx.1	+	0	750	c.750C>A	c.(748-750)taC>taA	p.Y250*	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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;0.0278)			TAACTTTCTACTATGCACCTT	0.502													A	248224733	C	A	248224733	4	1	278	1	0	0	0	0	0	1	0	0	11008	576	20	5	752	5	OR2L3	1	248224733	Nonsense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	44089358	248224733	1025888	4	19553											
GPAT2	150763	broad.mit.edu	37	2	96691751	96691751	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:96691751C>T	uc002svf.3	-	11	1388	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	GPAT2_uc002sve.3_Missense_Mutation_p.V191I|GPAT2_uc002svd.3_Missense_Mutation_p.V202I|GPAT2_uc002svg.3_Missense_Mutation_p.V262I|GPAT2_uc010yuh.2_Missense_Mutation_p.V318I|GPAT2_uc002svh.3_Missense_Mutation_p.V389I	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	389					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGGCACTGACGATGTATTCC	0.612													T	96691751	C	T	96691751	3	4	278	1	0	0	0	0	1	0	0	0	6589	536	19	1	1266	1	GPAT2	2	96691751	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		96691751	146507622	5	19554											
TTN	7273	broad.mit.edu	37	2	179395245	179395245	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:179395245C>A	uc021vsy.1	-	306	98618	c.98393G>T	c.(98392-98394)gGa>gTa	p.G32798V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26493V|TTN_uc021vta.1_Missense_Mutation_p.G26426V|TTN_uc021vtb.1_Missense_Mutation_p.G26301V|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33725	Ig-like 145.						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)			TTTAGACGTTCCACCTTCACC	0.363													A	179395245	C	A	179395245	3	1	278	1	0	0	0	0	1	0	0	0	16732	855	30	5	1902	5	TTN	2	179395245	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	82703494	179395245	63804128	6	19555											
TTN	7273	broad.mit.edu	37	2	179485027	179485027	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:179485027G>A	uc021vsy.1	-	196	38742	c.38517C>T	c.(38515-38517)gaC>gaT	p.D12839D	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.D6534D|TTN_uc021vta.1_Silent_p.D6467D|TTN_uc021vtb.1_Silent_p.D6342D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13766	Ig-like 85.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D12839D(1)|p.D6342D(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)			AGAAGACAGCGTCATCGAACT	0.433													A	179485027	G	A	179485027	2	1	278	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179485027	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	89782	179485027	63714346	7	19556											
MYL3	4634	broad.mit.edu	37	3	46901034	46901034	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:46901034G>A	uc003cql.1	-	3	505	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	138	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCGAAGACCCGCAGCCCCTCC	0.572													A	46901034	G	A	46901034	3	1	278	1	0	0	0	0	1	0	0	0	10048	1086	38	1	187	1	MYL3	3	46901034	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		46901034	151121396	8	19557											
PCOLCE2	26577	broad.mit.edu	37	3	142567280	142567280	+	Missense_Mutation	SNP	C	C	T	rs143959509		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:142567280C>T	uc003evd.3	-	2	534	c.227G>A	c.(226-228)cGa>cAa	p.R76Q		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	76	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTCTATGAATCGGAAATTGAG	0.473													T	142567280	C	T	142567280	3	4	278	1	0	0	0	0	1	0	0	0	11595	884	31	2	1048	2	PCOLCE2	3	142567280	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	95666246	142567280	55455150	9	19558											
UGT2A3	79799	broad.mit.edu	37	4	69817091	69817091	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:69817091A>G	uc003hef.2	-	0	419	c.388T>C	c.(388-390)Tac>Cac	p.Y130H	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	130						integral to membrane	glucuronosyltransferase activity	p.I129M(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCTGATTGTAGATAAAGCTC	0.383													G	69817091	A	G	69817091	3	3	278	1	0	0	0	0	1	0	0	0	16952	420	15	4	1219	4	UGT2A3	4	69817091	Missense_Mutation	SNP	A	TCGA-76-6662-01A-11D-1845-08		69817091	121337185	10	19559											
ANXA3	306	broad.mit.edu	37	4	79503370	79503370	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:79503370T>A	uc003hld.3	+	4	548	c.238T>A	c.(238-240)Ttt>Att	p.F80I		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	80					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CTCTGGCCACTTTGAGCATCT	0.428													A	79503370	T	A	79503370	3	1	278	1	0	0	0	0	1	0	0	0	719	1609	56	5	252	5	ANXA3	4	79503370	Missense_Mutation	SNP	T	TCGA-76-6662-01A-11D-1845-08	9686279	79503370	111650906	11	19560											
ODZ3	55714	broad.mit.edu	37	4	183714569	183714569	+	Silent	SNP	T	T	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:183714569T>C	uc003ivd.1	+	24	6819	c.6744T>C	c.(6742-6744)ttT>ttC	p.F2248F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2248					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACCTGCAGTTTTTTTATGCTG	0.438													C	183714569	T	C	183714569	2	2	278	1	0	0	0	0	0	0	0	1	10836	1838	64	4		4	ODZ3	4	183714569	Silent	SNP	T	TCGA-76-6662-01A-11D-1845-08	104211199	183714569	7439707	12	19561											
PIK3R1	5295	broad.mit.edu	37	5	67589590	67589591	+	In_Frame_Ins	INS	-	-	TAT			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:67589590_67589591insTAT	uc003jva.3	+	10	1933_1934	c.1353_1354insTAT	c.(1351-1356)insTAT	p.452_453insY	PIK3R1_uc003jvc.3_In_Frame_Ins_p.152_153insY|PIK3R1_uc003jvd.3_In_Frame_Ins_p.182_183insY|PIK3R1_uc003jve.3_In_Frame_Ins_p.131_132insY|PIK3R1_uc021xzn.1_In_Frame_Ins_p.89_90insY|PIK3R1_uc011crb.2_In_Frame_Ins_p.122_123insY	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	452					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N453_T454insN(4)|p.H450_E451del(4)|p.G446_Y452>VI(2)|p.Y452N(2)|p.E451_Y452del(2)|p.D434_Q475del(2)|p.E451_Y452delEY(2)|p.Y152N(1)|p.Y452_Q455>SGGSRIK(1)|p.0?(1)|p.?(1)|p.Y182N(1)|p.453_454insN(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATTACATGAATATAACACTCA	0.277			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			TAT	67589591	-	TAT	67589590	7	5	278	1	0	1	1	0	0	0	0	0	11918	98	4	0	1521	0	PIK3R1	5	67589590	In_Frame_Ins	INS	-	TCGA-76-6662-01A-11D-1845-08		67589590	113325670	13	19562											
GPR98	84059	broad.mit.edu	37	5	89953946	89953946	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:89953946G>A	uc003kju.3	+	20	4699	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1535	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACAATGACGAGGAAGGAGA	0.358													A	89953946	G	A	89953946	3	1	278	1	0	0	0	0	1	0	0	0	6721	1059	37	2	4685	2	GPR98	5	89953946	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	22364356	89953946	90961314	14	19563											
STK10	6793	broad.mit.edu	37	5	171488225	171488225	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:171488225C>T	uc003mbo.1	-	13	2430	c.2130G>A	c.(2128-2130)atG>atA	p.M710I		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	710			M -> T (in dbSNP:rs34936670).				ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAGCCTCTTCATGGCCAGCT	0.612													T	171488225	C	T	171488225	3	4	278	1	0	0	0	0	1	0	0	0	15285	826	29	3	800	3	STK10	5	171488225	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	81534279	171488225	9427035	15	19564											
IMPG1	3617	broad.mit.edu	37	6	76715225	76715225	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:76715225G>A	uc003pik.1	-	9	1044	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	305	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGATGGCCGTAAGTTGCAT	0.448													A	76715225	G	A	76715225	3	1	278	1	0	0	0	0	1	0	0	0	7728	1145	40	1	1511	1	IMPG1	6	76715225	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		76715225	94399842	16	19565											
ULBP1	80329	broad.mit.edu	37	6	150290460	150290460	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:150290460T>G	uc003qnp.3	+	2	632	c.589T>G	c.(589-591)Ttt>Gtt	p.F197V		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	197	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	p.E196*(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GCTTGAAGAATTTTTGATGTA	0.443													G	150290460	T	G	150290460	3	3	278	1	0	0	0	0	1	0	0	0	16969	1493	52	5	599	5	ULBP1	6	150290460	Missense_Mutation	SNP	T	TCGA-76-6662-01A-11D-1845-08	73575235	150290460	20824607	17	19566											
KIF25	3834	broad.mit.edu	37	6	168443281	168443281	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:168443281G>A	uc003qwk.1	+	7	1132	c.870G>A	c.(868-870)gcG>gcA	p.A290A	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	290	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGAGATGGCGTGCATCAGCC	0.647													A	168443281	G	A	168443281	2	1	278	1	0	0	0	0	0	0	0	1	8293	1132	40	1		1	KIF25	6	168443281	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	18152821	168443281	2671786	18	19567											
TFPI2	7980	broad.mit.edu	37	7	93516588	93516588	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:93516588G>A	uc003umy.1	-	3	691	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	206	BPTI/Kunitz inhibitor 3.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCACATGCACGTTTGCAATCC	0.323													A	93516588	G	A	93516588	3	1	278	1	0	0	0	0	1	0	0	0	15806	1145	40	1	99	1	TFPI2	7	93516588	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		93516588	65622075	19	19568											
ZAN	7455	broad.mit.edu	37	7	100364654	100364654	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:100364654C>T	uc003uwj.3	+	24	4799	c.4634C>T	c.(4633-4635)tCg>tTg	p.S1545L	ZAN_uc003uwk.3_Missense_Mutation_p.S1545L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.S122L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1545	VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				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)			TGCACAGCCTCGGGTGACCCC	0.607													T	100364654	C	T	100364654	3	4	278	1	0	0	0	0	1	0	0	0	17510	893	31	2	4728	2	ZAN	7	100364654	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	6848066	100364654	58774009	20	19569											
REPIN1	29803	broad.mit.edu	37	7	150069247	150069247	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:150069247A>G	uc022apt.1	-	0	787	c.419T>C	c.(418-420)gTt>gCt	p.V140A	REPIN1_uc003whd.2_Missense_Mutation_p.N295S|REPIN1_uc010lpq.1_Missense_Mutation_p.N306S|REPIN1_uc010lpr.1_Missense_Mutation_p.N363S|REPIN1_uc003whc.2_Missense_Mutation_p.N306S|REPIN1_uc003whe.2_Missense_Mutation_p.N306S			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).	0					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACAAACCCAACCTGCTGTCT	0.672													G	150069247	A	G	150069247	3	3	278	1	0	0	0	0	1	0	0	0	13227	43	2	4	1094	4	REPIN1	7	150069247	Missense_Mutation	SNP	A	TCGA-76-6662-01A-11D-1845-08	49704593	150069247	9069416	21	19570											
ATP6V1C1	528	broad.mit.edu	37	8	104064965	104064965	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr8:104064965A>C	uc003ykz.4	+	5	633	c.388A>C	c.(388-390)Act>Cct	p.T130P	ATP6V1C1_uc010mbz.3_Missense_Mutation_p.T55P|ATP6V1C1_uc003yla.3_Missense_Mutation_p.T130P|ATP6V1C1_uc011lhl.2_Missense_Mutation_p.T55P	NM_001695	NP_001686	P21283	VATC1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.	130					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			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)			AAAGGGAGTAACTCAGATTGA	0.318													C	104064965	A	C	104064965	3	2	278	1	0	0	0	0	1	0	0	0	1180	43	2	5	406	5	ATP6V1C1	8	104064965	Missense_Mutation	SNP	A	TCGA-76-6662-01A-11D-1845-08		104064965	42299057	22	19571											
NAA35	60560	broad.mit.edu	37	9	88576949	88576950	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr9:88576949_88576950delTC	uc004aoi.4	+	5	507_508	c.370_371delTC	c.(370-372)tcafs	p.S124fs	NAA35_uc004aoj.4_Frame_Shift_Del_p.S124fs|NAA35_uc004aok.1_Frame_Shift_Del_p.S124fs	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	124					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGAAGGCCATTCACTGGCACAG	0.366													-	88576950	TC	-	88576949	7	5	278	1	0	1	0	1	0	0	0	0	10123	1783	62	0	388	0	NAA35	9	88576949	Frame_Shift_Del	DEL	TC	TCGA-76-6662-01A-11D-1845-08		88576949	52636482	23	19572											
RXRA	6256	broad.mit.edu	37	9	137309042	137309042	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr9:137309042G>T	uc004cfb.2	+	4	811	c.649G>T	c.(649-651)Gag>Tag	p.E217*	RXRA_uc004cfc.1_Nonsense_Mutation_p.E120*|RXRA_uc004cfd.1_5'UTR	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	217	Hinge.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GGACCGGAACGAGAATGAGGT	0.677													T	137309042	G	T	137309042	4	4	278	1	0	0	0	0	0	1	0	0	13763	1059	37	5	667	5	RXRA	9	137309042	Nonsense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	48732093	137309042	3904389	24	19573											
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	278	1	0	0	0	0	0	1	0	0	12738	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		89717672	45817075	25	19574											
KIF20B	9585	broad.mit.edu	37	10	91498052	91498052	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:91498052C>A	uc001kgs.1	+	19	3526	c.3454C>A	c.(3454-3456)Ctt>Att	p.L1152I	KIF20B_uc001kgr.1_Missense_Mutation_p.L1112I|KIF20B_uc001kgt.1_Missense_Mutation_p.L363I|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1152					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTTTCAGAACTTACACAAGG	0.343													A	91498052	C	A	91498052	3	1	278	1	0	0	0	0	1	0	0	0	8287	565	20	5	3408	5	KIF20B	10	91498052	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	1780380	91498052	44036695	26	19575											
WDR11	55717	broad.mit.edu	37	10	122649467	122649467	+	Silent	SNP	T	T	C			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:122649467T>C	uc021pzt.1	+	17	2535	c.2289T>C	c.(2287-2289)aaT>aaC	p.N763N	WDR11_uc010qte.2_Silent_p.N365N|WDR11_uc001lfd.1_Silent_p.N281N	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	763						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTAAAGGAAATCAAAAATTAA	0.383													C	122649467	T	C	122649467	2	2	278	1	0	0	0	0	0	0	0	1	17270	1432	50	4		4	WDR11	10	122649467	Silent	SNP	T	TCGA-76-6662-01A-11D-1845-08	31151415	122649467	12885280	27	19576											
OR5D18	219438	broad.mit.edu	37	11	55587178	55587178	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:55587178C>G	uc010rin.2	+	0	73	c.73C>G	c.(73-75)Caa>Gaa	p.Q25E		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				CCCAGAACTGCAAGTCCCACT	0.448													G	55587178	C	G	55587178	3	3	278	1	0	0	0	0	1	0	0	0	11157	711	25	5	75	5	OR5D18	11	55587178	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		55587178	79419338	28	19577											
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:77069990_77069992delCAT	uc001oyh.4	-	5	1081_1083	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_uc010rso.2_In_Frame_Del_p.D85del|PAK1_uc001oyg.4_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.2_5'UTR	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													-	77069992	CAT	-	77069990	7	5	278	1	0	1	0	1	0	0	0	0	11399	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-76-6662-01A-11D-1845-08	21482812	77069990	57936526	29	19578											
MAML2	84441	broad.mit.edu	37	11	95825767	95825767	+	Silent	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:95825767C>T	uc001pfw.1	-	1	2713	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	476					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G476V(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTTCTCCTGCCCAAATGGAC	0.602			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								T	95825767	C	T	95825767	2	4	278	1	0	0	0	0	0	0	0	1	9206	726	26	3		3	MAML2	11	95825767	Silent	SNP	C	TCGA-76-6662-01A-11D-1845-08	18755777	95825767	39180749	30	19579											
RB1	5925	broad.mit.edu	37	13	48919241	48919244	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs121913296		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr13:48919241_48919244delAAAG	uc001vcb.3	+	3	572_575	c.406_409delAAAG	c.(406-411)aaagaafs	p.K136fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	136					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.E137*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAACTTACTAAAAGAAATTGATAC	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48919244	AAAG	-	48919241	7	5	278	1	0	1	0	1	0	0	0	0	13098	15	1	0	420	0	RB1	13	48919241	Frame_Shift_Del	DEL	AAAG	TCGA-76-6662-01A-11D-1845-08		48919241	66250637	31	19580											
REM2	161253	broad.mit.edu	37	14	23353987	23353987	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr14:23353987C>T	uc001whf.1	+	1	273	c.208C>T	c.(208-210)Cct>Tct	p.P70S	REM2_uc010tnd.1_Missense_Mutation_p.P62S	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	70					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGGCAGTATGCCTGTCCCCTA	0.607													T	23353987	C	T	23353987	3	4	278	1	0	0	0	0	1	0	0	0	13223	739	26	3	214	3	REM2	14	23353987	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		23353987	83995553	32	19581											
FMN1	342184	broad.mit.edu	37	15	33261062	33261062	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:33261062G>A	uc001zhf.4	-	3	2171	c.2171C>T	c.(2170-2172)cCa>cTa	p.P724L	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	947	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTGGGGGTGGTGGAGCAGG	0.627													A	33261062	G	A	33261062	3	1	278	1	0	0	0	0	1	0	0	0	5949	1348	47	3	1475	3	FMN1	15	33261062	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		33261062	69270330	33	19582											
PLCB2	5330	broad.mit.edu	37	15	40590478	40590478	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:40590478G>A	uc001zld.3	-	10	1402	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	PLCB2_uc010bbo.3_Silent_p.D367D|PLCB2_uc010ucm.2_Silent_p.D367D	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	367	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGGCTCCTCGTCAGGGGGTT	0.602													A	40590478	G	A	40590478	2	1	278	1	0	0	0	0	0	0	0	1	12028	1136	40	1		1	PLCB2	15	40590478	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	7329416	40590478	61940914	34	19583											
IGF1R	3480	broad.mit.edu	37	15	99456497	99456497	+	Missense_Mutation	SNP	G	G	T	rs45553041		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:99456497G>T	uc002bul.3	+	7	1864	c.1814G>T	c.(1813-1815)cGc>cTc	p.R605L	IGF1R_uc010urq.2_Missense_Mutation_p.R605L|IGF1R_uc010bon.3_Missense_Mutation_p.R605L|IGF1R_uc010urr.1_Missense_Mutation_p.R55L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	605	Fibronectin type-III 1.		R -> H (in dbSNP:rs45553041).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TTGTACATTCGCACCAATGCT	0.532													T	99456497	G	T	99456497	3	4	278	1	0	0	0	0	1	0	0	0	7571	1087	38	5	1844	5	IGF1R	15	99456497	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	58866019	99456497	3074895	35	19584											
TP53	7157	broad.mit.edu	37	17	7578518	7578518	+	Missense_Mutation	SNP	C	C	T	rs28934875		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:7578518C>T	uc002gim.2	-	4	606	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	TP53_uc002gig.1_Missense_Mutation_p.A138T|TP53_uc002gih.3_Missense_Mutation_p.A138T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.A6T|TP53_uc010cnf.1_Missense_Mutation_p.A6T|TP53_uc002gii.1_Missense_Mutation_p.A6T|TP53_uc010cni.1_Missense_Mutation_p.A138T|TP53_uc010cnh.1_Missense_Mutation_p.A138T|TP53_uc002gij.2_Missense_Mutation_p.A138T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.A45T|TP53_uc002gio.2_Missense_Mutation_p.A6T|TP53_uc010vug.2_Missense_Mutation_p.A99T	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	138	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934875).|A -> S (in LFS; germline mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> 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.A138P(30)|p.A138V(19)|p.A138fs*32(10)|p.A138T(10)|p.0?(8)|p.L137L(6)|p.A138_P142delAKTCP(6)|p.A138fs*11(6)|p.L137P(3)|p.C135fs*9(3)|p.A138fs*31(2)|p.L137_W146del10(2)|p.F134_T140>S(2)|p.L137M(2)|p.K132_A138delKMFCQLA(2)|p.A138_V143delAKTCPV(2)|p.A138del(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.L137Q(2)|p.C135_T140delCQLAKT(2)|p.A138S(2)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.L137fs*12(1)|p.L137fs*33(1)|p.V73fs*9(1)|p.L137_A138insX(1)|p.L137V(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A6P(1)|p.C42fs*9(1)|p.A138A(1)|p.A45P(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)		CAGGTCTTGGCCAGTTGGCAA	0.567		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)			T	7578518	C	T	7578518	3	4	278	1	0	0	0	0	1	0	0	0	16378	739	26	3	886	3	TP53	17	7578518	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		7578518	73616692	36	19585											
ABI3	51225	broad.mit.edu	37	17	47297534	47297534	+	Silent	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:47297534C>T	uc002iop.1	+	5	1146	c.648C>T	c.(646-648)agC>agT	p.S216S	ABI3_uc002ioq.1_Silent_p.S210S	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	216					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TGTTCAGCAGCGCCGAAGGTG	0.692										HNSCC(55;0.14)			T	47297534	C	T	47297534	2	4	278	1	0	0	0	0	0	0	0	1	90	767	27	1		1	ABI3	17	47297534	Silent	SNP	C	TCGA-76-6662-01A-11D-1845-08	39719016	47297534	33897676	37	19586											
DNAH17	8632	broad.mit.edu	37	17	76459049	76459049	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:76459049G>A	uc010dhp.2	-	56	9176	c.9051C>T	c.(9049-9051)ccC>ccT	p.P3017P	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAAAGGTTTTGGGTGTGGTGT	0.522													A	76459049	G	A	76459049	2	1	278	1	0	0	0	0	0	0	0	1	4601	1335	47	3		3	DNAH17	17	76459049	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	29161515	76459049	4736161	38	19587											
TBCD	6904	broad.mit.edu	37	17	80858560	80858560	+	Silent	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:80858560G>A	uc002kfy.1	+	17	1813	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	TBCD_uc002kfx.1_Silent_p.Q544Q|TBCD_uc002kfz.3_Silent_p.Q561Q|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	561					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGTACACGCAGCCAATGATAG	0.493													A	80858560	G	A	80858560	2	1	278	1	0	0	0	0	0	0	0	1	15630	962	34	3		3	TBCD	17	80858560	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	4399511	80858560	336650	39	19588											
ICAM1	3383	broad.mit.edu	37	19	10395175	10395175	+	Missense_Mutation	SNP	C	C	T	rs141326678		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:10395175C>T	uc002mnq.2	+	4	1341	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	ICAM1_uc010xle.1_Missense_Mutation_p.T119M|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	341	Ig-like C2-type 4.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GCCAAGGTGACGCTGAATGGG	0.642													T	10395175	C	T	10395175	3	4	278	1	0	0	0	0	1	0	0	0	7479	536	19	1	1040	1	ICAM1	19	10395175	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		10395175	48733808	40	19589											
SCN1B	6324	broad.mit.edu	37	19	35523525	35523525	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:35523525G>A	uc002nxo.2	+	1	267	c.134G>A	c.(133-135)cGc>cAc	p.R45H	SCN1B_uc002nxp.3_Missense_Mutation_p.R45H|SCN1B_uc010xsg.2_Missense_Mutation_p.R45H	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	45	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	p.R45C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCCTGCAAGCGCCGCAGCGAG	0.622													A	35523525	G	A	35523525	3	1	278	1	0	0	0	0	1	0	0	0	13915	1087	38	1	140	1	SCN1B	19	35523525	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	25128350	35523525	23605458	41	19590											
SPTBN4	57731	broad.mit.edu	37	19	41063199	41063199	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:41063199C>T	uc002ony.3	+	25	5646	c.5560C>T	c.(5560-5562)Cgg>Tgg	p.R1854W	SPTBN4_uc002onx.3_Missense_Mutation_p.R1854W|SPTBN4_uc002onz.3_Missense_Mutation_p.R1854W|SPTBN4_uc010egx.3_Missense_Mutation_p.R597W|SPTBN4_uc002ooa.3_Missense_Mutation_p.R530W	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1854					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			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)			TGAGGAGAAGCGGAGGCGGCT	0.647													T	41063199	C	T	41063199	3	4	278	1	0	0	0	0	1	0	0	0	15120	759	27	1	5658	1	SPTBN4	19	41063199	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	5539674	41063199	18065784	42	19591											
KLK6	5653	broad.mit.edu	37	19	51466671	51466671	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:51466671C>T	uc002puh.3	-	2	424	c.359G>A	c.(358-360)cGc>cAc	p.R120H	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R111H|KLK6_uc002puj.3_Missense_Mutation_p.R4H|KLK6_uc010ycn.2_Missense_Mutation_p.R4H|KLK6_uc002pul.3_Missense_Mutation_p.R111H|KLK6_uc002pum.3_Missense_Mutation_p.R4H	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	111	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCGTGCCAGGCGCAACAGCAT	0.617													T	51466671	C	T	51466671	3	4	278	1	0	0	0	0	1	0	0	0	8408	768	27	1	414	1	KLK6	19	51466671	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	10403472	51466671	7662312	43	19592											
LILRA5	353514	broad.mit.edu	37	19	54822924	54822924	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:54822924C>T	uc002qfe.3	-	4	592	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	LILRA5_uc002qff.3_Missense_Mutation_p.V146M|LILRA5_uc010yev.2_Missense_Mutation_p.V158M|LILRA5_uc010yew.2_Missense_Mutation_p.V146M|LILRA5_uc002qfg.1_Missense_Mutation_p.V158M|LILRA5_uc002qfh.1_Missense_Mutation_p.V146M	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	158	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity	p.N157D(1)|p.N157N(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGGGTCACGTTCTCTCCT	0.572													T	54822924	C	T	54822924	3	4	278	1	0	0	0	0	1	0	0	0	8788	536	19	1	525	1	LILRA5	19	54822924	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	3356253	54822924	4306059	44	19593											
SIRPB1	10326	broad.mit.edu	37	20	1552398	1552398	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr20:1552398C>T	uc010gai.3	-	2	818	c.719G>A	c.(718-720)cGt>cAt	p.R240H	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	240	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.R240C(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCAGTCCCACGAAGAGGGTC	0.622													T	1552398	C	T	1552398	3	4	278	1	0	0	0	0	1	0	0	0	14333	536	19	1	489	1	SIRPB1	20	1552398	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		1552398	61473122	45	19594											
KDM6A	7403	broad.mit.edu	37	X	44923045	44923048	+	Frame_Shift_Del	DEL	CTAT	CTAT	-			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chrX:44923045_44923048delCTAT	uc011mkz.2	+	16	2437_2440	c.2062_2065delCTAT	c.(2062-2067)ctatctfs	p.L688fs	KDM6A_uc022bvi.1_Frame_Shift_Del_p.L306fs|KDM6A_uc010nhk.2_Frame_Shift_Del_p.L602fs|KDM6A_uc004dge.4_Frame_Shift_Del_p.L636fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.L591fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.L643fs|KDM6A_uc011mlc.2_Frame_Shift_Del_p.L340fs|KDM6A_uc022bvj.1_Frame_Shift_Del_p.L557fs|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Frame_Shift_Del_p.L275fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	636					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAAACCAACTATCTAACTCCAC	0.446			"D, N, F, S"		"renal, oesophageal SCC, MM"								-	44923048	CTAT	-	44923045	7	5	278	1	0	1	0	1	0	0	0	0	8137	564	20	0	1968	0	KDM6A	23	44923045	Frame_Shift_Del	DEL	CTAT	TCGA-76-6662-01A-11D-1845-08		44923045	110347515	46	19595											
RPS6KA1	6195	broad.mit.edu	37	1	26883501	26883501	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:26883501C>T	uc001bmr.1	+	12	1157	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R240C|RPS6KA1_uc010off.1_Missense_Mutation_p.R316C|RPS6KA1_uc001bms.1_Missense_Mutation_p.R341C|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R175C	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	332	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GCTATACCGTCGTGAGATCAA	0.597													T	26883501	C	T	26883501	3	4	279	1	0	0	0	0	1	0	0	0	13650	884	31	2	1183	2	RPS6KA1	1	26883501	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		26883501	222367120	1	19596											
SFPQ	6421	broad.mit.edu	37	1	35656550	35656550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:35656550delG	uc001bys.3	-	2	1157	c.1064delC	c.(1063-1065)acafs	p.T355fs		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	355	RRM 1.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTCATGGGTGTATCATCCAG	0.438			T	TFE3	papillary renal cell								-	35656550	G	-	35656550	7	5	279	1	0	1	0	1	0	0	0	0	14160	1377	48	0	1091	0	SFPQ	1	35656550	Frame_Shift_Del	DEL	G	TCGA-76-6663-01A-11D-1845-08	8773049	35656550	213594071	2	19597											
CLDN19	149461	broad.mit.edu	37	1	43201615	43201615	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:43201615G>A	uc001cht.1	-	3	751	c.560C>T	c.(559-561)cCg>cTg	p.P187L	CLDN19_uc001chu.2_Missense_Mutation_p.P187L|CLDN19_uc010ojv.1_Missense_Mutation_p.R159W	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	187					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGGCTCCGGGCATGTGCA	0.677													A	43201615	G	A	43201615	3	1	279	1	0	0	0	0	1	0	0	0	3480	1116	39	2	238	2	CLDN19	1	43201615	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	7545065	43201615	206049006	3	19598											
CLCA1	1179	broad.mit.edu	37	1	86952277	86952277	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:86952277G>A	uc001dlt.3	+	6	1283	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	CLCA1_uc001dls.1_Silent_p.G280G	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	341	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTGAGCTGGGGTCCTGGGTTG	0.478													A	86952277	G	A	86952277	2	1	279	1	0	0	0	0	0	0	0	1	3457	1248	44	3		3	CLCA1	1	86952277	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	43750662	86952277	162298344	4	19599											
CLCA4	22802	broad.mit.edu	37	1	87045055	87045055	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:87045055C>T	uc009wcs.3	+	12	2185	c.2141C>T	c.(2140-2142)cCg>cTg	p.P714L	CLCA4_uc009wct.3_Missense_Mutation_p.P477L|CLCA4_uc009wcu.3_Missense_Mutation_p.P534L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	714						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			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)		GAAGCAAACCCGCCAAGACCT	0.428													T	87045055	C	T	87045055	3	4	279	1	0	0	0	0	1	0	0	0	3459	652	23	2	2191	2	CLCA4	1	87045055	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	92778	87045055	162205566	5	19600											
SPTA1	6708	broad.mit.edu	37	1	158651339	158651339	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:158651339A>G	uc001fst.1	-	3	708	c.509T>C	c.(508-510)aTc>aCc	p.I170T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	170					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCACTCTAAGATGTCAGCACA	0.537													G	158651339	A	G	158651339	3	3	279	1	0	0	0	0	1	0	0	0	15115	333	12	4	6946	4	SPTA1	1	158651339	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	71606284	158651339	90599282	6	19601											
PTPN14	5784	broad.mit.edu	37	1	214575057	214575057	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:214575057C>T	uc001hkk.2	-	6	1293	c.640G>A	c.(640-642)Gga>Aga	p.G214R	PTPN14_uc021piy.1_Intron|PTPN14_uc010pty.2_Missense_Mutation_p.G115R	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	214	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGTCCAAATCCATCCAAACGT	0.423													T	214575057	C	T	214575057	3	4	279	1	0	0	0	0	1	0	0	0	12783	603	21	3	2975	3	PTPN14	1	214575057	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	55923718	214575057	34675564	7	19602											
SIPA1L2	57568	broad.mit.edu	37	1	232619633	232619633	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:232619633G>A	uc001hvg.3	-	3	2044	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	629	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.T629M(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGTCCCGCCGTCTCATTGTT	0.448													A	232619633	G	A	232619633	3	1	279	1	0	0	0	0	1	0	0	0	14330	1145	40	1	3354	1	SIPA1L2	1	232619633	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	18044576	232619633	16630988	8	19603											
OR2M2	391194	broad.mit.edu	37	1	248344248	248344248	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:248344248T>A	uc010pzf.2	+	0	961	c.961T>A	c.(961-963)Ttg>Atg	p.L321M		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			ACTTTATGTTTTGCTGTTTGC	0.373													A	248344248	T	A	248344248	3	1	279	1	0	0	0	0	1	0	0	0	11010	1838	64	5	963	5	OR2M2	1	248344248	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	15724615	248344248	906373	9	19604											
PXDN	7837	broad.mit.edu	37	2	1652977	1652977	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:1652977A>C	uc002qxa.3	-	16	2639	c.2575T>G	c.(2575-2577)Tct>Gct	p.S859A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	859					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCATGACAGAGAAGCAGGGG	0.667													C	1652977	A	C	1652977	3	2	279	1	0	0	0	0	1	0	0	0	12847	304	11	5	1892	5	PXDN	2	1652977	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08		1652977	241546396	10	19605											
TTN	7273	broad.mit.edu	37	2	179496982	179496982	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179496982C>T	uc021vsy.1	-	184	36160	c.35935G>A	c.(35935-35937)Gaa>Aaa	p.E11979K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5674K|TTN_uc021vta.1_Missense_Mutation_p.E5607K|TTN_uc021vtb.1_Missense_Mutation_p.E5482K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12906	Pro-rich.						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)			GTTTTCCCTTCGTCTTGCATT	0.433													T	179496982	C	T	179496982	3	4	279	1	0	0	0	0	1	0	0	0	16732	893	31	2	64562	2	TTN	2	179496982	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	177844005	179496982	63702391	11	19606											
TTN	7273	broad.mit.edu	37	2	179497281	179497281	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179497281C>T	uc021vsy.1	-	183	35973	c.35748G>A	c.(35746-35748)aaG>aaA	p.K11916K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5611K|TTN_uc021vta.1_Silent_p.K5544K|TTN_uc021vtb.1_Silent_p.K5419K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12843	Glu-rich.|Pro-rich.						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)			CACTTGTGTGCTTATCTTCAG	0.328													T	179497281	C	T	179497281	2	4	279	1	0	0	0	0	0	0	0	1	16732	796	28	3		3	TTN	2	179497281	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	299	179497281	63702092	12	19607											
TTN	7273	broad.mit.edu	37	2	179647563	179647563	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179647563C>T	uc021vsy.1	-	17	3295	c.3070G>A	c.(3070-3072)Gtc>Atc	p.V1024I	TTN_uc021vsz.1_Missense_Mutation_p.V978I|TTN_uc021vta.1_Missense_Mutation_p.V978I|TTN_uc021vtb.1_Missense_Mutation_p.V978I|TTN_uc002unb.2_Missense_Mutation_p.V1024I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1024	Ig-like 3.						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)			GATGTGCTGACGGTTCCAGCC	0.498													T	179647563	C	T	179647563	3	4	279	1	0	0	0	0	1	0	0	0	16732	536	19	1	108298	1	TTN	2	179647563	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	150282	179647563	63551810	13	19608											
MYO1B	4430	broad.mit.edu	37	2	192278803	192278803	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:192278803T>C	uc010fsg.2	+	27	3158	c.2903T>C	c.(2902-2904)cTg>cCg	p.L968P	MYO1B_uc002usq.2_Missense_Mutation_p.L910P|MYO1B_uc002usr.2_Missense_Mutation_p.L968P|MYO1B_uc002usu.2_Missense_Mutation_p.L213P	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	968						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			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)			GGGGCTTACCTGGAAATCAAC	0.373													C	192278803	T	C	192278803	3	2	279	1	0	0	0	0	1	0	0	0	10069	1580	55	4	3009	4	MYO1B	2	192278803	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	12631240	192278803	50920570	14	19609											
QARS	5859	broad.mit.edu	37	3	49136953	49136953	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr3:49136953C>A	uc003cvx.3	-	15	1521	c.1516G>T	c.(1516-1518)Ggt>Tgt	p.G506C	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Missense_Mutation_p.G361C|QARS_uc003cvy.3_Missense_Mutation_p.G361C|QARS_uc011bce.2_Missense_Mutation_p.G495C	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	506					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CGCACAGCACCAGTTGCTACA	0.527													A	49136953	C	A	49136953	3	1	279	1	0	0	0	0	1	0	0	0	12871	594	21	5	847	5	QARS	3	49136953	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		49136953	148885477	15	19610											
EPHA6	285220	broad.mit.edu	37	3	96945145	96945145	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr3:96945145C>A	uc010how.1	+	3	1195	c.1152C>A	c.(1150-1152)aaC>aaA	p.N384K	EPHA6_uc003drp.1_Missense_Mutation_p.N384K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGCTGGGAACACAAAATGTT	0.358													A	96945145	C	A	96945145	3	1	279	1	0	0	0	0	1	0	0	0	5171	477	17	5	1166	5	EPHA6	3	96945145	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	47808192	96945145	101077285	16	19611											
HCN1	348980	broad.mit.edu	37	5	45262329	45262329	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:45262329C>T	uc003jok.3	-	7	2392	c.2367G>A	c.(2365-2367)tcG>tcA	p.S789S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	789				S -> W (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.S789L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCGAGGGCTGCGAGGCGGAGA	0.627													T	45262329	C	T	45262329	2	4	279	1	0	0	0	0	0	0	0	1	6996	755	27	1		1	HCN1	5	45262329	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		45262329	135652931	17	19612											
GPR98	84059	broad.mit.edu	37	5	89986756	89986756	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:89986756C>T	uc003kju.3	+	30	6945	c.6849C>T	c.(6847-6849)ggC>ggT	p.G2283G	GPR98_uc003kjt.3_Missense_Mutation_p.A17V|GPR98_uc003kjv.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2283	Calx-beta 16.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCTACTGGCGACCTGCGAG	0.493													T	89986756	C	T	89986756	2	4	279	1	0	0	0	0	0	0	0	1	6721	755	27	1		1	GPR98	5	89986756	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	44724427	89986756	90928504	18	19613											
PCDHAC2	56138	broad.mit.edu	37	5	140249736	140249736	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:140249736G>A	uc003lia.2	+	0	1906	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A350T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	366	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A350T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGAAGTCGCCGTGACTTC	0.547													A	140249736	G	A	140249736	3	1	279	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140249736	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	50262980	140249736	40665524	19	19614											
PCDHB4	56131	broad.mit.edu	37	5	140503426	140503426	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:140503426G>A	uc003lip.1	+	0	1846	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	616	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			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)			GCTGTTCGGCGTGTGGGCGCA	0.677													A	140503426	G	A	140503426	3	1	279	1	0	0	0	0	1	0	0	0	11544	1145	40	1	1848	1	PCDHB4	5	140503426	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	253690	140503426	40411834	20	19615											
PDGFRB	5159	broad.mit.edu	37	5	149504343	149504343	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:149504343T>A	uc003lro.3	-	12	2328	c.1859A>T	c.(1858-1860)cAt>cTt	p.H620L	PDGFRB_uc010jhd.3_Missense_Mutation_p.H459L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	620	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCAGGCCATGAGCCGTGGC	0.597			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								A	149504343	T	A	149504343	3	1	279	1	0	0	0	0	1	0	0	0	11662	1464	51	5	1505	5	PDGFRB	5	149504343	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	9000917	149504343	31410917	21	19616											
MSX2	4488	broad.mit.edu	37	5	174152030	174152030	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:174152030C>T	uc003mcy.3	+	0	456	c.368C>T	c.(367-369)tCg>tTg	p.S123L		NM_002449	NP_002440	P35548	MSX2_HUMAN	Homo sapiens msh homeobox 2 (MSX2), mRNA.	123					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCCGATATTCGCCGCCGCCA	0.677													T	174152030	C	T	174152030	3	4	279	1	0	0	0	0	1	0	0	0	9896	893	31	2	370	2	MSX2	5	174152030	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	24647687	174152030	6763230	22	19617											
F13A1	2162	broad.mit.edu	37	6	6174842	6174842	+	Missense_Mutation	SNP	G	G	A	rs113599940		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:6174842G>A	uc003mwv.3	-	11	1841	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M	F13A1_uc011dib.2_Missense_Mutation_p.T510M	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	573					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACGTCGAACGTCTCCTTCTT	0.527													A	6174842	G	A	6174842	3	1	279	1	0	0	0	0	1	0	0	0	5340	1145	40	1	496	1	F13A1	6	6174842	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		6174842	164940225	23	19618											
FTSJD2	23070	broad.mit.edu	37	6	37438827	37438827	+	Silent	SNP	G	G	A	rs146308234		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:37438827G>A	uc003ons.3	+	13	1789	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	512					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AAGCTCTGGCGAAAATCCATG	0.418													A	37438827	G	A	37438827	2	1	279	1	0	0	0	0	0	0	0	1	6091	1045	37	2		2	FTSJD2	6	37438827	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	31263985	37438827	133676240	24	19619											
SNAP91	9892	broad.mit.edu	37	6	84302667	84302667	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:84302667G>T	uc021zcf.1	-	18	1874	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	SNAP91_uc011dzd.2_Missense_Mutation_p.S118Y|SNAP91_uc003pka.3_Missense_Mutation_p.S613Y|SNAP91_uc011dze.2_Missense_Mutation_p.S613Y|SNAP91_uc003pkc.3_Missense_Mutation_p.S613Y|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.S552Y	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	615					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCACTCACCAGATAAGAGGTC	0.448													T	84302667	G	T	84302667	3	4	279	1	0	0	0	0	1	0	0	0	14833	942	33	5	919	5	SNAP91	6	84302667	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	46863840	84302667	86812400	25	19620											
GPRC6A	222545	broad.mit.edu	37	6	117113591	117113591	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:117113591G>T	uc003pxj.1	-	5	2517	c.2495C>A	c.(2494-2496)cCc>cAc	p.P832H	GPRC6A_uc003pxk.1_Missense_Mutation_p.P657H|GPRC6A_uc003pxl.1_Missense_Mutation_p.P761H	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	832					response to amino acid stimulus		G-protein coupled receptor activity	p.P832H(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATAGCATTTGGGGATGAATGT	0.368													T	117113591	G	T	117113591	3	4	279	1	0	0	0	0	1	0	0	0	6728	1232	43	5	289	5	GPRC6A	6	117113591	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	32810924	117113591	54001476	26	19621											
INTS1	26173	broad.mit.edu	37	7	1538054	1538054	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr7:1538054C>T	uc003skn.2	-	9	1520	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A	INTS1_uc003skq.2_Silent_p.A473A	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	473					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTACCTTGGGCGCCAGCTCTG	0.642													T	1538054	C	T	1538054	2	4	279	1	0	0	0	0	0	0	0	1	7775	755	27	1		1	INTS1	7	1538054	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		1538054	157600609	27	19622											
ESRP1	54845	broad.mit.edu	37	8	95683852	95683852	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr8:95683852G>A	uc003ygq.4	+	10	1588	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	ESRP1_uc003ygr.4_Missense_Mutation_p.A469T|ESRP1_uc003ygs.4_Missense_Mutation_p.A469T|ESRP1_uc003ygt.4_Missense_Mutation_p.A469T|ESRP1_uc003ygu.4_Missense_Mutation_p.A469T|ESRP1_uc003ygv.3_Missense_Mutation_p.A309T|ESRP1_uc003ygw.3_Missense_Mutation_p.A309T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	469	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGGGGAGTTCGCCACAGATAT	0.438													A	95683852	G	A	95683852	3	1	279	1	0	0	0	0	1	0	0	0	5258	1087	38	1	1447	1	ESRP1	8	95683852	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		95683852	50680170	28	19623											
BNC2	54796	broad.mit.edu	37	9	16435990	16435990	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:16435990G>A	uc003zml.3	-	5	2342	c.2202C>T	c.(2200-2202)ggC>ggT	p.G734G	BNC2_uc011lmw.2_Silent_p.G639G|BNC2_uc003zmm.3_Silent_p.G692G|BNC2_uc003zmq.1_Silent_p.G748G|BNC2_uc003zmr.1_Silent_p.G771G|BNC2_uc003zmp.1_Silent_p.G762G|BNC2_uc010mij.1_Silent_p.G656G|BNC2_uc011lmv.2_Silent_p.G560G|BNC2_uc003zmo.1_Silent_p.G656G|BNC2_uc003zmj.3_Silent_p.G499G|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.G499G|BNC2_uc003zmn.1_Silent_p.G499G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGGATTCCTCGCCCAGTTTGG	0.517													A	16435990	G	A	16435990	2	1	279	1	0	0	0	0	0	0	0	1	1475	1074	38	1		1	BNC2	9	16435990	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08		16435990	124777441	29	19624											
LINGO2	158038	broad.mit.edu	37	9	27948963	27948963	+	Silent	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:27948963C>A	uc003zqv.1	-	6	2357	c.1707G>T	c.(1705-1707)ggG>ggT	p.G569G	LINGO2_uc010mjf.1_Silent_p.G569G|LINGO2_uc003zqu.1_Silent_p.G569G|LINGO2_uc022bfc.1_Silent_p.G569G	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	569						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCTTGCCTTTCCCTCGGCTCC	0.463													A	27948963	C	A	27948963	2	1	279	1	0	0	0	0	0	0	0	1	8815	842	30	5		5	LINGO2	9	27948963	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	11512973	27948963	113264468	30	19625											
PHF2	5253	broad.mit.edu	37	9	96408031	96408031	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:96408031G>A	uc004aub.3	+	3	567	c.420G>A	c.(418-420)ccG>ccA	p.P140P	PHF2_uc011lug.1_Silent_p.P23P	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	140					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGGCTGTCCCGGCCCCCACGT	0.627													A	96408031	G	A	96408031	2	1	279	1	0	0	0	0	0	0	0	1	11830	1103	39	2		2	PHF2	9	96408031	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	68459068	96408031	44805400	31	19626											
OR13C8	138802	broad.mit.edu	37	9	107331658	107331658	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:107331658C>T	uc011lvo.2	+	0	210	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCTTCCTCGACGTTTGCTACA	0.423													T	107331658	C	T	107331658	2	4	279	1	0	0	0	0	0	0	0	1	10938	535	19	1		1	OR13C8	9	107331658	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	10923627	107331658	33881773	32	19627											
ZNF79	7633	broad.mit.edu	37	9	130207274	130207274	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:130207274T>C	uc004bqw.4	+	4	1709	c.1295T>C	c.(1294-1296)cTc>cCc	p.L432P	ZNF79_uc011maf.2_Missense_Mutation_p.L408P|ZNF79_uc011mag.2_Missense_Mutation_p.L408P	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGCTCAGCCCTCATTCGGCAT	0.443													C	130207274	T	C	130207274	3	2	279	1	0	0	0	0	1	0	0	0	18158	1551	54	4	1313	4	ZNF79	9	130207274	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	22875616	130207274	11006157	33	19628											
KNDC1	85442	broad.mit.edu	37	10	135020649	135020649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr10:135020649C>A	uc001llz.1	+	19	3589	c.3588C>A	c.(3586-3588)taC>taA	p.Y1196*	KNDC1_uc001lma.1_3'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1196					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGTCATGTACGCGGAACGCT	0.657													A	135020649	C	A	135020649	4	1	279	1	0	0	0	0	0	1	0	0	8426	547	19	5	3666	5	KNDC1	10	135020649	Nonsense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		135020649	514098	34	19629											
MRGPRX1	259249	broad.mit.edu	37	11	18955702	18955702	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr11:18955702C>T	uc001mpg.3	-	0	848	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	210					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCTGGTCAGCGGTATCTTCC	0.507													T	18955702	C	T	18955702	2	4	279	1	0	0	0	0	0	0	0	1	9766	755	27	1		1	MRGPRX1	11	18955702	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		18955702	116050814	35	19630											
PIK3C2G	5288	broad.mit.edu	37	12	18435195	18435195	+	Silent	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:18435195A>G	uc001rdt.3	+	1	296	c.180A>G	c.(178-180)gaA>gaG	p.E60E	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.E60E|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	60					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAATTGATGAAAACACCTTTT	0.398													G	18435195	A	G	18435195	2	3	279	1	0	0	0	0	0	0	0	1	11911	11	1	4		4	PIK3C2G	12	18435195	Silent	SNP	A	TCGA-76-6663-01A-11D-1845-08		18435195	115416700	36	19631											
GLI1	2735	broad.mit.edu	37	12	57864141	57864141	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:57864141G>A	uc001snx.3	+	11	1712	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	GLI1_uc021qzi.1_Missense_Mutation_p.E499K|GLI1_uc009zpq.3_Missense_Mutation_p.E412K	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	540					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTCTCTCTTGAACGCCGCAG	0.612													A	57864141	G	A	57864141	3	1	279	1	0	0	0	0	1	0	0	0	6437	1291	45	3	1660	3	GLI1	12	57864141	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	39428946	57864141	75987754	37	19632											
TRHDE	283392	broad.mit.edu	37	12	72667155	72667155	+	Translation_Start_Site	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:72667155G>A	uc001sxa.3	+	0	627	c.597G>A	c.(595-597)gcG>gcA	p.A199A	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	199					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGGACCGGGCGTTCGGGGCTG	0.607													A	72667155	G	A	72667155	1	1	279	1	0	0	0	0	0	0	0	0	16476	1132	40	1		1	TRHDE	12	72667155	Translation_Start_Site	SNP	G	TCGA-76-6663-01A-11D-1845-08	14803014	72667155	61184740	38	19633											
UHRF1BP1L	23074	broad.mit.edu	37	12	100433500	100433500	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:100433500G>A	uc001tgq.3	-	19	4378	c.4149C>T	c.(4147-4149)acC>acT	p.T1383T	UHRF1BP1L_uc001tgp.3_Silent_p.T1033T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1383										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTTCCACTGGTCAGCAGCA	0.428													A	100433500	G	A	100433500	2	1	279	1	0	0	0	0	0	0	0	1	16966	1335	47	3		3	UHRF1BP1L	12	100433500	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	27766345	100433500	33418395	39	19634											
DNAH10	196385	broad.mit.edu	37	12	124298408	124298408	+	Missense_Mutation	SNP	A	A	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:124298408A>C	uc001uft.4	+	19	3400	c.3375A>C	c.(3373-3375)agA>agC	p.R1125S	DNAH10_uc010tav.1_3'UTR|DNAH10_uc010taw.1_3'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1125	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGAACTCAGATATAGGGACG	0.383													C	124298408	A	C	124298408	3	2	279	1	0	0	0	0	1	0	0	0	4598	330	12	5	3453	5	DNAH10	12	124298408	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	23864908	124298408	9553487	40	19635											
RB1	5925	broad.mit.edu	37	13	49039399	49039399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr13:49039399C>A	uc001vcb.3	+	22	2550	c.2384C>A	c.(2383-2385)tCa>tAa	p.S795*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	795	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.S794I(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCCTAGTTCACCCTTACGG	0.393		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	49039399	C	A	49039399	4	1	279	1	0	0	0	0	0	1	0	0	13098	838	29	5	2474	5	RB1	13	49039399	Nonsense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		49039399	66130479	41	19636											
AHNAK2	113146	broad.mit.edu	37	14	105414185	105414185	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr14:105414185G>A	uc010axc.1	-	6	7723	c.7603C>T	c.(7603-7605)Ccc>Tcc	p.P2535S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P2435S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2535						nucleus				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)			GCGGAAGGGGGCTGAATGCTG	0.667													A	105414185	G	A	105414185	3	1	279	1	0	0	0	0	1	0	0	0	415	1203	42	3	9788	3	AHNAK2	14	105414185	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		105414185	1935355	42	19637											
CEP152	22995	broad.mit.edu	37	15	49030645	49030645	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:49030645G>A	uc001zwz.3	-	26	5127	c.4934C>T	c.(4933-4935)aCg>aTg	p.T1645M	CEP152_uc001zwy.3_Missense_Mutation_p.T1589M	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1589					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTCCAAATACGTGGTTTCTTC	0.383													A	49030645	G	A	49030645	3	1	279	1	0	0	0	0	1	0	0	0	3248	1145	40	1	202	1	CEP152	15	49030645	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		49030645	53500747	43	19638											
ZP2	7783	broad.mit.edu	37	16	21216830	21216830	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr16:21216830C>T	uc010bwn.1	-	6	803	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	ZP2_uc002dii.2_Missense_Mutation_p.A202T|ZP2_uc010bwo.3_Missense_Mutation_p.A241T	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	202					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCCTTCATGGCCTCTGGCAGG	0.493													T	21216830	C	T	21216830	3	4	279	1	0	0	0	0	1	0	0	0	18213	739	26	3	1685	3	ZP2	16	21216830	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		21216830	69137923	44	19639											
TAOK2	9344	broad.mit.edu	37	16	29990328	29990328	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr16:29990328C>T	uc010bzm.2	+	4	421	c.386C>T	c.(385-387)gCa>gTa	p.A129V	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.A129V|TAOK2_uc021tgf.1_Missense_Mutation_p.A129V|TAOK2_uc002dva.2_Missense_Mutation_p.A129V|TAOK2_uc002dvc.2_Missense_Mutation_p.A129V|TAOK2_uc002dvd.2_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	129	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTAGAGATCGCAGCTGTGACC	0.577													T	29990328	C	T	29990328	3	4	279	1	0	0	0	0	1	0	0	0	15545	710	25	3	404	3	TAOK2	16	29990328	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	8773498	29990328	60364425	45	19640											
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	rs11540652		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:7577538C>A	uc002gim.2	-	6	937	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_uc002gig.1_Missense_Mutation_p.R248L|TP53_uc002gih.3_Missense_Mutation_p.R248L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116L|TP53_uc010cnf.1_Missense_Mutation_p.R116L|TP53_uc002gii.1_Missense_Mutation_p.R116L|TP53_uc010cni.1_Missense_Mutation_p.R248L|TP53_uc010cnh.1_Missense_Mutation_p.R248L|TP53_uc002gij.2_Missense_Mutation_p.R248L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155L|TP53_uc002gio.2_Missense_Mutation_p.R116L|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			A	7577538	C	A	7577538	3	1	279	1	0	0	0	0	1	0	0	0	16378	652	23	5	547	5	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		7577538	73617672	46	19641											
COPS3	8533	broad.mit.edu	37	17	17163668	17163668	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:17163668C>A	uc002grd.3	-	7	1000	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	COPS3_uc010vwv.2_Missense_Mutation_p.V275L|COPS3_uc010vww.2_Missense_Mutation_p.V165L	NM_003653	NP_001186054	Q9UNS2	CSN3_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) (COPS3), transcript variant 1, mRNA.	295	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CATTGCTTCACCAGCCCCATG	0.488													A	17163668	C	A	17163668	3	1	279	1	0	0	0	0	1	0	0	0	3734	507	18	5	408	5	COPS3	17	17163668	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	9586130	17163668	64031542	47	19642											
NF1	4763	broad.mit.edu	37	17	29497003	29497003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:29497003C>T	uc002hgg.3	+	4	957	c.574C>T	c.(574-576)Cga>Tga	p.R192*	NF1_uc002hge.2_Nonsense_Mutation_p.R192*|NF1_uc002hgf.2_Nonsense_Mutation_p.R192*|NF1_uc002hgh.3_Nonsense_Mutation_p.R192*|NF1_uc010csn.2_Intron	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	192					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R192*(4)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATTAAAACGACTCCTGAA	0.284			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29497003	C	T	29497003	4	4	279	1	0	0	0	0	0	1	0	0	10356	528	19	1	592	1	NF1	17	29497003	Nonsense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	12333335	29497003	51698207	48	19643											
CCL4	6351	broad.mit.edu	37	17	34432024	34432024	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:34432024G>A	uc002hkw.1	+	1	259	c.180G>A	c.(178-180)caG>caA	p.Q60Q	CCL4_uc002hkx.1_Intron	NM_002984	NP_002975	P13236	CCL4_HUMAN	Homo sapiens chemokine (C-C motif) ligand 4 (CCL4), transcript variant 1, mRNA.	60					cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity			endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGCTCCCAGCCAGCTGTGG	0.572													A	34432024	G	A	34432024	2	1	279	1	0	0	0	0	0	0	0	1	2902	962	34	3		3	CCL4	17	34432024	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	4935021	34432024	46763186	49	19644											
GH1	2688	broad.mit.edu	37	17	61995751	61995751	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:61995751G>A	uc002jdj.3	-	1	188	c.126C>T	c.(124-126)cgC>cgT	p.R42R	GH1_uc002jdi.3_Silent_p.R42R|GH1_uc002jdk.3_Silent_p.R42R|GH1_uc002jdl.3_Silent_p.R42R|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Silent_p.R42R	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	42			R -> C (in IGHD1B; reduced secretion).		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.R42R(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GACGATGGGCGCGGAGCATAG	0.582													A	61995751	G	A	61995751	2	1	279	1	0	0	0	0	0	0	0	1	6367	1074	38	1		1	GH1	17	61995751	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	27563727	61995751	19199459	50	19645											
LAMA1	284217	broad.mit.edu	37	18	7009321	7009321	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr18:7009321C>T	uc002knm.3	-	26	4012	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T	LAMA1_uc010wzj.2_Silent_p.T782T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1306	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCCTCTCGCGTGACAGGTT	0.403													T	7009321	C	T	7009321	2	4	279	1	0	0	0	0	0	0	0	1	8605	755	27	1		1	LAMA1	18	7009321	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		7009321	71067927	51	19646											
ONECUT2	9480	broad.mit.edu	37	18	55143729	55143729	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr18:55143729G>A	uc002lgo.3	+	1	1321	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	430					organ morphogenesis	nucleus	sequence-specific DNA binding	p.R430H(4)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AAGAAGTCCCGCCTGGTGTTC	0.517													A	55143729	G	A	55143729	3	1	279	1	0	0	0	0	1	0	0	0	10869	1087	38	1	1295	1	ONECUT2	18	55143729	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	48134408	55143729	22933519	52	19647											
MATK	4145	broad.mit.edu	37	19	3779708	3779708	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:3779708G>A	uc002lyt.3	-	8	1230	c.830C>T	c.(829-831)aCg>aTg	p.T277M	MATK_uc002lyv.3_Missense_Mutation_p.T278M|MATK_uc002lyu.3_Missense_Mutation_p.T236M|MATK_uc010dtq.3_Missense_Mutation_p.T277M|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	277	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGACGGCCGTCTCGTCCAG	0.677													A	3779708	G	A	3779708	3	1	279	1	0	0	0	0	1	0	0	0	9332	1145	40	1	717	1	MATK	19	3779708	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		3779708	55349275	53	19648											
ZNF536	9745	broad.mit.edu	37	19	31039823	31039823	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:31039823C>T	uc002nsu.1	+	3	3435	c.3297C>T	c.(3295-3297)caC>caT	p.H1099H	ZNF536_uc010edd.1_Silent_p.H1099H	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					GGACCGGCCACGTGGACCCTG	0.542													T	31039823	C	T	31039823	2	4	279	1	0	0	0	0	0	0	0	1	17971	535	19	1		1	ZNF536	19	31039823	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	27260115	31039823	28089160	54	19649											
ZNF181	339318	broad.mit.edu	37	19	35232341	35232341	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:35232341G>A	uc002nvu.3	+	3	1518	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	ZNF181_uc010xsb.1_Missense_Mutation_p.R351H|ZNF181_uc010xsc.1_Missense_Mutation_p.R287H	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TATGAGTGTCGTATATGTGGA	0.373													A	35232341	G	A	35232341	3	1	279	1	0	0	0	0	1	0	0	0	17746	1145	40	1	1069	1	ZNF181	19	35232341	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	4192518	35232341	23896642	55	19650											
ZNF345	25850	broad.mit.edu	37	19	37367974	37367974	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:37367974A>G	uc002oex.3	+	2	623	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	ZNF345_uc021utn.1_Missense_Mutation_p.Q81R|ZNF345_uc002oey.4_Missense_Mutation_p.Q81R|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.Q81R|ZNF345_uc021utp.1_Missense_Mutation_p.Q81R|ZNF345_uc021utq.1_Missense_Mutation_p.Q81R	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	81					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTCGACATCAGCGAATTCAT	0.398													G	37367974	A	G	37367974	3	3	279	1	0	0	0	0	1	0	0	0	17856	188	7	4	244	4	ZNF345	19	37367974	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	2135633	37367974	21761009	56	19651											
SLC17A7	57030	broad.mit.edu	37	19	49937876	49937876	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:49937876G>A	uc002pnp.3	-	4	792	c.620C>T	c.(619-621)gCg>gTg	p.A207V	SLC17A7_uc002pnq.1_Missense_Mutation_p.A140V|SLC17A7_uc002pno.3_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	207					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	p.A207A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCTGTCGTCGCCAGGCGACT	0.602													A	49937876	G	A	49937876	3	1	279	1	0	0	0	0	1	0	0	0	14422	1087	38	1	1094	1	SLC17A7	19	49937876	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	12569902	49937876	9191107	57	19652											
HNF4A	3172	broad.mit.edu	37	20	43034798	43034798	+	Silent	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr20:43034798C>T	uc002xma.3	+	1	305	c.216C>T	c.(214-216)taC>taT	p.Y72Y	HNF4A_uc010zwo.1_Missense_Mutation_p.T63M|HNF4A_uc002xlt.3_Silent_p.Y50Y|HNF4A_uc002xlu.3_Silent_p.Y50Y|HNF4A_uc002xlv.3_Silent_p.Y50Y|HNF4A_uc002xly.3_Silent_p.Y72Y|HNF4A_uc010ggq.3_Silent_p.Y65Y|HNF4A_uc002xlz.3_Silent_p.Y72Y|MIR3646_uc021wed.1_5'Flank	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	72					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCAAACACTACGGTGCCTCGA	0.622													T	43034798	C	T	43034798	2	4	279	1	0	0	0	0	0	0	0	1	7253	547	19	1		1	HNF4A	20	43034798	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		43034798	19990722	58	19653											
ABCG1	9619	broad.mit.edu	37	21	43716431	43716431	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr21:43716431G>A	uc011aev.2	+	14	2073	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R	ABCG1_uc002zam.3_Missense_Mutation_p.G622R|ABCG1_uc002zan.3_Missense_Mutation_p.G646R|ABCG1_uc002zao.3_Missense_Mutation_p.G641R|ABCG1_uc002zap.3_Missense_Mutation_p.G644R|ABCG1_uc002zaq.3_Missense_Mutation_p.G656R|ABCG1_uc002zar.3_Missense_Mutation_p.G655R|AL355711_uc002zau.3_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	656	ABC transmembrane type-2.				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			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)	CATCGTACTCGGGATTTTCTT	0.522													A	43716431	G	A	43716431	3	1	279	1	0	0	0	0	1	0	0	0	68	1116	39	2	2192	2	ABCG1	21	43716431	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		43716431	4413464	59	19654											
HPS4	89781	broad.mit.edu	37	22	26860320	26860320	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr22:26860320G>A	uc003acl.3	-	10	1935	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	HPS4_uc003aci.3_Missense_Mutation_p.R421C|HPS4_uc003acj.3_Missense_Mutation_p.R290C|HPS4_uc003ack.3_Missense_Mutation_p.R217C|HPS4_uc003acn.3_Missense_Mutation_p.R272C|HPS4_uc010gvd.1_Missense_Mutation_p.R444C|HPS4_uc003ach.3_Missense_Mutation_p.R161C	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	426					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GAGGGAGGGCGCAAGCTGCTG	0.622									Hermansky-Pudlak syndrome				A	26860320	G	A	26860320	3	1	279	1	0	0	0	0	1	0	0	0	7341	1087	38	1	866	1	HPS4	22	26860320	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		26860320	24444246	60	19655											
PANX2	56666	broad.mit.edu	37	22	50617533	50617533	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr22:50617533G>A	uc003bjn.4	+	2	1861	c.1861G>A	c.(1861-1863)Gcc>Acc	p.A621T	PANX2_uc003bjp.4_Missense_Mutation_p.A487T|PANX2_uc003bjo.4_Missense_Mutation_p.A621T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	621					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCCGAAACGCCACACACCC	0.711													A	50617533	G	A	50617533	3	1	279	1	0	0	0	0	1	0	0	0	11421	1087	38	1	1871	1	PANX2	22	50617533	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	23757213	50617533	687033	61	19656											
MXRA5	25878	broad.mit.edu	37	X	3241682	3241682	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:3241682G>A	uc004crg.4	-	4	2201	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	682						extracellular region				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)				GCACCTGGGCGTCTGCCTCTT	0.532													A	3241682	G	A	3241682	3	1	279	1	0	0	0	0	1	0	0	0	10003	1145	40	1	6454	1	MXRA5	23	3241682	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		3241682	152028878	62	19657											
FRMPD4	9758	broad.mit.edu	37	X	12712508	12712508	+	Missense_Mutation	SNP	G	G	A	rs148666498		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:12712508G>A	uc004cuz.2	+	8	1374	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	FRMPD4_uc011mij.2_Missense_Mutation_p.V282I	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	290	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AATTAGCTTCGTCCCAAAAGA	0.413													A	12712508	G	A	12712508	3	1	279	1	0	0	0	0	1	0	0	0	6059	1145	40	1	902	1	FRMPD4	23	12712508	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	9470826	12712508	142558052	63	19658											
YY2	404281	broad.mit.edu	37	X	21875300	21875300	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:21875300A>G	uc011mjp.2	+	0	1196	c.698A>G	c.(697-699)aAa>aGa	p.K233R	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCAGATCCTAAACAGCTGGCA	0.488													G	21875300	A	G	21875300	3	3	279	1	0	0	0	0	1	0	0	0	17506	14	1	4	700	4	YY2	23	21875300	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	9162792	21875300	133395260	64	19659											
MED12	9968	broad.mit.edu	37	X	70341522	70341523	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:70341522_70341523delTA	uc004dyy.3	+	6	1156_1157	c.957_958delTA	c.(955-960)gttatafs	p.V319fs	MED12_uc011mpq.1_Frame_Shift_Del_p.V319fs|MED12_uc004dyz.3_Frame_Shift_Del_p.V319fs|MED12_uc004dza.3_Frame_Shift_Del_p.V166fs	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	319					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCTCATGTTATATCTGCTCA	0.554			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						-	70341523	TA	-	70341522	7	5	279	1	0	1	0	1	0	0	0	0	9428	1741	61	0	983	0	MED12	23	70341522	Frame_Shift_Del	DEL	TA	TCGA-76-6663-01A-11D-1845-08	48466222	70341522	84929038	65	19660											
ACRC	93953	broad.mit.edu	37	X	70824283	70824283	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:70824283C>T	uc004eae.2	+	7	1657	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	386						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ACCAAGTGATCCTGAGGCTAA	0.498													T	70824283	C	T	70824283	3	4	279	1	0	0	0	0	1	0	0	0	171	855	30	3	1182	3	ACRC	23	70824283	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	482761	70824283	84446277	66	19661											
DRP2	1821	broad.mit.edu	37	X	100490945	100490945	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:100490945G>C	uc004egz.2	+	3	583	c.214G>C	c.(214-216)Gga>Cga	p.G72R	DRP2_uc011mrh.1_5'UTR	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	72					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGTGCCTCTGGACCCCTGGA	0.522													C	100490945	G	C	100490945	3	2	279	1	0	0	0	0	1	0	0	0	4764	1349	47	5	220	5	DRP2	23	100490945	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	29666662	100490945	54779615	67	19662											
TBC1D8B	54885	broad.mit.edu	37	X	106066520	106066521	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:106066520_106066521delAG	uc004emo.3	+	4	816_817	c.651_652delAG	c.(649-654)acagagfs	p.T217fs	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Frame_Shift_Del_p.T217fs|TBC1D8B_uc004emn.3_Frame_Shift_Del_p.T217fs	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	217						intracellular	calcium ion binding|Rab GTPase activator activity	p.E218fs*21(4)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCATACTGACAGAGAGTATTCA	0.361													-	106066521	AG	-	106066520	7	5	279	1	0	1	0	1	0	0	0	0	15623	175	7	0	669	0	TBC1D8B	23	106066520	Frame_Shift_Del	DEL	AG	TCGA-76-6663-01A-11D-1845-08	5575575	106066520	49204040	68	19663											
MID2	11043	broad.mit.edu	37	X	107160962	107160962	+	Silent	SNP	G	G	A			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:107160962G>A	uc004enl.3	+	6	2001	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	MID2_uc004enk.3_Intron	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	476	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding	p.A456A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGGCCGGGGCGCCACGAGGCA	0.483													A	107160962	G	A	107160962	2	1	279	1	0	0	0	0	0	0	0	1	9578	1074	38	1		1	MID2	23	107160962	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	1094442	107160962	48109598	69	19664											
ZNF75D	7626	broad.mit.edu	37	X	134428042	134428042	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:134428042C>T	uc022ceq.1	-	1	415	c.25G>A	c.(25-27)Gat>Aat	p.D9N	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.D9N	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	9					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A8T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAGCATGAATCCGCGTTCAGC	0.478													T	134428042	C	T	134428042	3	4	279	1	0	0	0	0	1	0	0	0	18131	855	30	3	1527	3	ZNF75D	23	134428042	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	27267080	134428042	20842518	70	19665											
PDZD4	57595	broad.mit.edu	37	X	153069697	153069697	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:153069697C>G	uc004fja.1	-	7	1689	c.1439G>C	c.(1438-1440)gGg>gCg	p.G480A	PDZD4_uc004fiy.1_Missense_Mutation_p.G399A|PDZD4_uc004fiz.1_Missense_Mutation_p.G474A|PDZD4_uc004fix.2_Missense_Mutation_p.G378A|PDZD4_uc011mze.1_Missense_Mutation_p.G365A|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	474						cell cortex		p.T480T(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)					GCAGCTCTCCCCAGTGTTGTA	0.682													G	153069697	C	G	153069697	3	3	279	1	0	0	0	0	1	0	0	0	11703	623	22	5	892	5	PDZD4	23	153069697	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	18641655	153069697	2200863	71	19666											
PRAMEF11	440560	broad.mit.edu	37	1	12887475	12887475	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:12887475G>T	uc001auk.2	-	2	578	c.382C>A	c.(382-384)Ctt>Att	p.L128I		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	128										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACCCATAGAAGGAGGCAGGTG	0.468													T	12887475	G	T	12887475	3	4	280	1	0	0	0	0	1	0	0	0	12427	1000	35	5	936	5	PRAMEF11	1	12887475	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		12887475	236363146	1	19667											
B4GALT2	8704	broad.mit.edu	37	1	44446914	44446914	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:44446914G>A	uc010okl.2	+	1	245	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	B4GALT2_uc001clg.3_Missense_Mutation_p.V28I|B4GALT2_uc001clh.3_5'UTR|B4GALT2_uc001cli.3_Missense_Mutation_p.V28I	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	28					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCTCGTGGCCGTCATCCTCTA	0.662													A	44446914	G	A	44446914	3	1	280	1	0	0	0	0	1	0	0	0	1271	1145	40	1	84	1	B4GALT2	1	44446914	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	31559439	44446914	204803707	2	19668											
PPM1J	333926	broad.mit.edu	37	1	113255057	113255057	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:113255057C>T	uc001ect.1	-	3	779	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	PPM1J_uc009wgl.1_Non-coding_Transcript|PPM1J_uc001ecs.1_Missense_Mutation_p.R45Q	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	251	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCCACGCCGCTCCCGGGC	0.617													T	113255057	C	T	113255057	3	4	280	1	0	0	0	0	1	0	0	0	12342	652	23	2	793	2	PPM1J	1	113255057	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	68808143	113255057	135995564	3	19669											
KCNK3	3777	broad.mit.edu	37	2	26950539	26950539	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr2:26950539C>T	uc002rhn.2	+	1	451	c.288C>T	c.(286-288)taC>taT	p.Y96Y		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	96					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCAGGCTACGGGCACGCGG	0.632													T	26950539	C	T	26950539	2	4	280	1	0	0	0	0	0	0	0	1	8067	547	19	1		1	KCNK3	2	26950539	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		26950539	216248834	4	19670											
DDX18	8886	broad.mit.edu	37	2	118587017	118587017	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr2:118587017C>A	uc002tlh.1	+	12	1944	c.1845C>A	c.(1843-1845)ttC>ttA	p.F615L		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	615							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTTGGTTTCAAGGTGCCTC	0.398													A	118587017	C	A	118587017	3	1	280	1	0	0	0	0	1	0	0	0	4345	825	29	5	1895	5	DDX18	2	118587017	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	91636478	118587017	124612356	5	19671											
UBP1	7342	broad.mit.edu	37	3	33454282	33454282	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:33454282T>C	uc003cfq.4	-	3	910	c.380A>G	c.(379-381)cAa>cGa	p.Q127R	UBP1_uc003cfr.4_Missense_Mutation_p.Q127R|UBP1_uc010hga.3_Missense_Mutation_p.Q127R	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	127					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L126L(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CTCTGTGTATTGTAGCCGTCT	0.438													C	33454282	T	C	33454282	3	2	280	1	0	0	0	0	1	0	0	0	16892	1812	63	4	1294	4	UBP1	3	33454282	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08		33454282	164568148	6	19672											
TMF1	7110	broad.mit.edu	37	3	69097485	69097485	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:69097485C>T	uc011bfx.2	-	1	618	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	TMF1_uc003dnn.3_Missense_Mutation_p.R124Q	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	124					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTCTTCTGGTCGTTGTGATTT	0.418													T	69097485	C	T	69097485	3	4	280	1	0	0	0	0	1	0	0	0	16225	884	31	2	2974	2	TMF1	3	69097485	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	35643203	69097485	128924945	7	19673											
IQCG	84223	broad.mit.edu	37	3	197616555	197616555	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:197616555G>A	uc003fyo.3	-	10	1374	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	IQCG_uc003fyn.3_Missense_Mutation_p.R312W|IQCG_uc003fyp.3_Missense_Mutation_p.R410W	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	410	IQ.									autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ATTTCTCTCCGTATCATAGTG	0.463													A	197616555	G	A	197616555	3	1	280	1	0	0	0	0	1	0	0	0	7810	1144	40	1	107	1	IQCG	3	197616555	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	128519070	197616555	405875	8	19674											
NPFFR2	10886	broad.mit.edu	37	4	72897628	72897628	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr4:72897628T>A	uc003hgg.2	+	0	108	c.10T>A	c.(10-12)Ttc>Atc	p.F4I	NPFFR2_uc010iig.2_5'UTR	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	4					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TATGAATAGCTTCTTCGGAAC	0.562													A	72897628	T	A	72897628	3	1	280	1	0	0	0	0	1	0	0	0	10578	1609	56	5	12	5	NPFFR2	4	72897628	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08		72897628	118256648	9	19675											
ROPN1L	83853	broad.mit.edu	37	5	10461398	10461398	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:10461398T>G	uc021xwo.1	+	4	703	c.520T>G	c.(520-522)Tac>Gac	p.Y174D	ROPN1L_uc003jex.4_Missense_Mutation_p.Y174D	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	174					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGTTTACCGCTACTTGGCCAG	0.527													G	10461398	T	G	10461398	3	3	280	1	0	0	0	0	1	0	0	0	13525	1522	53	5	534	5	ROPN1L	5	10461398	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08		10461398	170453862	10	19676											
VCAN	1462	broad.mit.edu	37	5	82816676	82816676	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:82816676G>A	uc003kii.3	+	6	2907	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A851T|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	851	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			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)		TGAAGATGGAGCAGATGAATT	0.408													A	82816676	G	A	82816676	3	1	280	1	0	0	0	0	1	0	0	0	17135	971	34	3	2573	3	VCAN	5	82816676	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	72355278	82816676	98098584	11	19677											
ADAMTS2	9509	broad.mit.edu	37	5	178555036	178555036	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:178555036G>A	uc003mjw.3	-	16	2643	c.2541C>T	c.(2539-2541)aaC>aaT	p.N847N		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	847	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N847N(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587													A	178555036	G	A	178555036	2	1	280	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178555036	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	95738360	178555036	2360224	12	19678											
OR2B6	26212	broad.mit.edu	37	6	27925491	27925491	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:27925491G>T	uc011dkx.2	+	0	473	c.473G>T	c.(472-474)tGg>tTg	p.W158L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCAGTGTGGTTGTCTACC	0.493													T	27925491	G	T	27925491	3	4	280	1	0	0	0	0	1	0	0	0	10991	1357	47	5	475	5	OR2B6	6	27925491	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		27925491	143189576	13	19679											
APOBEC2	10930	broad.mit.edu	37	6	41029317	41029317	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:41029317T>C	uc003opl.3	+	1	529	c.382T>C	c.(382-384)Tgt>Cgt	p.C128R	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	128					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCCAGCCCCTGTGCAGCGTG	0.572													C	41029317	T	C	41029317	3	2	280	1	0	0	0	0	1	0	0	0	788	1580	55	4	388	4	APOBEC2	6	41029317	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08	13103826	41029317	130085750	14	19680											
PNLDC1	154197	broad.mit.edu	37	6	160240043	160240043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:160240043G>A	uc003qsy.1	+	16	1362	c.1323G>A	c.(1321-1323)tgG>tgA	p.W441*	PNLDC1_uc003qsx.1_Nonsense_Mutation_p.W430*	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	430						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAAAAGGTGGCCTGGGGTCA	0.463													A	160240043	G	A	160240043	4	1	280	1	0	0	0	0	0	1	0	0	12148	1212	42	3	1352	3	PNLDC1	6	160240043	Nonsense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	119210726	160240043	10875024	15	19681											
PRPS1L1	221823	broad.mit.edu	37	7	18066638	18066638	+	Silent	SNP	T	T	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr7:18066638T>A	uc003stz.3	-	0	849	c.768A>T	c.(766-768)ccA>ccT	p.P256P		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	256					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GAGAAATGGCTGGGCCAGAAA	0.448													A	18066638	T	A	18066638	2	1	280	1	0	0	0	0	0	0	0	1	12579	1567	55	5		5	PRPS1L1	7	18066638	Silent	SNP	T	TCGA-76-6664-01A-11D-1845-08		18066638	141072025	16	19682											
SAMD9	54809	broad.mit.edu	37	7	92730646	92730646	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr7:92730646C>G	uc003umf.3	-	2	5035	c.4765G>C	c.(4765-4767)Gtt>Ctt	p.V1589L	SAMD9_uc003umg.3_Missense_Mutation_p.V1589L|SAMD9_uc022ahg.1_Missense_Mutation_p.V1589L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1589						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCTCTTAAACAATTTCAATG	0.378													G	92730646	C	G	92730646	3	3	280	1	0	0	0	0	1	0	0	0	13826	478	17	5	8	5	SAMD9	7	92730646	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	74664008	92730646	66408017	17	19683											
EGR3	1960	broad.mit.edu	37	8	22550311	22550311	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:22550311C>T	uc003xcm.1	-	0	505	c.147G>A	c.(145-147)atG>atA	p.M49I	EGR3_uc011kzn.1_5'Flank|EGR3_uc011kzo.2_5'Flank	NM_004430	NP_001186810	Q06889	EGR3_HUMAN	Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.	49					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TACCTGTAGCCATCTGATTGT	0.602													T	22550311	C	T	22550311	3	4	280	1	0	0	0	0	1	0	0	0	4973	594	21	3	1024	3	EGR3	8	22550311	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		22550311	123813711	18	19684											
CNGB3	54714	broad.mit.edu	37	8	87666239	87666239	+	Splice_Site	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:87666239C>T	uc003ydx.3	-	7	951	c.903_splice	c.e7+1	p.Q301_splice	CNGB3_uc010maj.3_Splice_Site_p.Q163_splice	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	301					signal transduction|visual perception	integral to membrane	cGMP binding			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						TTGTCACCTACCTGAAATTTT	0.303													T	87666239	C	T	87666239	5	4	280	1	0	0	0	0	0	0	1	0	3601	521	18	3	1573	3	CNGB3	8	87666239	Splice_Site	SNP	C	TCGA-76-6664-01A-11D-1845-08	65115928	87666239	58697783	19	19685											
RGS22	26166	broad.mit.edu	37	8	101065160	101065160	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:101065160G>A	uc003yjb.1	-	9	1754	c.1559C>T	c.(1558-1560)gCt>gTt	p.A520V	RGS22_uc003yja.1_Missense_Mutation_p.A339V|RGS22_uc003yjc.1_Missense_Mutation_p.A508V|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.A424V	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	520					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCAGCACTAGCATATTTTGT	0.393													A	101065160	G	A	101065160	3	1	280	1	0	0	0	0	1	0	0	0	13305	971	34	3	2307	3	RGS22	8	101065160	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	13398921	101065160	45298862	20	19686											
DMRT3	58524	broad.mit.edu	37	9	990870	990870	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr9:990870C>T	uc003zgw.1	+	1	1322	c.1284C>T	c.(1282-1284)cgC>cgT	p.R428R		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	428					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R428C(2)		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)		TTCCTGCCCGCGCCACGGAAG	0.552													T	990870	C	T	990870	2	4	280	1	0	0	0	0	0	0	0	1	4587	755	27	1		1	DMRT3	9	990870	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		990870	140222561	21	19687											
GAPVD1	26130	broad.mit.edu	37	9	128092422	128092422	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr9:128092422G>A	uc004bpp.3	+	10	2258	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	GAPVD1_uc011lzs.1_Missense_Mutation_p.D700N|GAPVD1_uc004bpq.3_Missense_Mutation_p.D700N|GAPVD1_uc010mwx.3_Missense_Mutation_p.D700N|GAPVD1_uc004bpr.3_Missense_Mutation_p.D679N|GAPVD1_uc004bps.3_Missense_Mutation_p.D700N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D559N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	700					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	p.L699V(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGTGCTTCTTGACCCCTGCAC	0.478													A	128092422	G	A	128092422	3	1	280	1	0	0	0	0	1	0	0	0	6239	1290	45	3	2136	3	GAPVD1	9	128092422	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	127101552	128092422	13121009	22	19688											
PTEN	5728	broad.mit.edu	37	10	89692768	89692768	+	Splice_Site	SNP	A	A	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr10:89692768A>C	uc001kfb.3	+	5	1286	c.254_splice	c.e5-2	p.V85_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	85	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C71fs*6(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTTACCACAGTTGCACAAT	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692768	A	C	89692768	5	2	280	1	0	0	0	0	0	0	1	0	12738	202	7	5	270	5	PTEN	10	89692768	Splice_Site	SNP	A	TCGA-76-6664-01A-11D-1845-08		89692768	45841979	23	19689											
FAM181B	220382	broad.mit.edu	37	11	82443599	82443599	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:82443599C>T	uc001ozp.3	-	0	1308	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.	391										large_intestine(1)|lung(2)|prostate(1)	4						AATCGTAGGACACCTGATGGG	0.706													T	82443599	C	T	82443599	2	4	280	1	0	0	0	0	0	0	0	1	5509	465	17	3		3	FAM181B	11	82443599	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		82443599	52562917	24	19690											
NOX4	50507	broad.mit.edu	37	11	89073229	89073229	+	Splice_Site	SNP	A	A	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:89073229A>T	uc001pct.3	-	15	1685	c.1446_splice	c.e15+1	p.K482_splice	NOX4_uc009yvr.3_Splice_Site_p.K457_splice|NOX4_uc001pcu.3_Splice_Site_p.K408_splice|NOX4_uc001pcw.3_Splice_Site_p.K175_splice|NOX4_uc001pcx.3_Splice_Site_p.K135_splice|NOX4_uc001pcv.3_Splice_Site_p.K442_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Splice_Site_p.K246_splice|NOX4_uc010rtv.2_Splice_Site_p.K418_splice|NOX4_uc009yvq.3_Splice_Site_p.K458_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	482	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCCTAATGTTACCTTGTTATG	0.318													T	89073229	A	T	89073229	5	4	280	1	0	0	0	0	0	0	1	0	10558	405	14	5	304	5	NOX4	11	89073229	Splice_Site	SNP	A	TCGA-76-6664-01A-11D-1845-08	6629630	89073229	45933287	25	19691											
ANGPTL5	253935	broad.mit.edu	37	11	101762058	101762058	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:101762058T>A	uc001pgl.3	-	8	1715	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	373	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTGAAACAGATTTAATCTTGA	0.303													A	101762058	T	A	101762058	3	1	280	1	0	0	0	0	1	0	0	0	617	1490	52	5	51	5	ANGPTL5	11	101762058	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08	12688829	101762058	33244458	26	19692											
MMP1	4312	broad.mit.edu	37	11	102663372	102663372	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:102663372C>T	uc001phi.2	-	6	1140	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.E267K	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	333	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TCGGCAAATTCGTAAGCAGCT	0.403													T	102663372	C	T	102663372	3	4	280	1	0	0	0	0	1	0	0	0	9648	893	31	2	428	2	MMP1	11	102663372	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	901314	102663372	32343144	27	19693											
IPO8	10526	broad.mit.edu	37	12	30809654	30809654	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr12:30809654G>A	uc001rjd.3	-	16	2260	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	IPO8_uc010sjt.2_Missense_Mutation_p.R433W|IPO8_uc001rje.1_Missense_Mutation_p.R127W	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	638					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAATGATCCGTAGACAGATA	0.234													A	30809654	G	A	30809654	3	1	280	1	0	0	0	0	1	0	0	0	7798	1144	40	1	1237	1	IPO8	12	30809654	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		30809654	103042241	28	19694											
ZBTB39	9880	broad.mit.edu	37	12	57396685	57396685	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr12:57396685G>T	uc001sml.2	-	1	2170	c.2017C>A	c.(2017-2019)Ctt>Att	p.L673I	ZBTB39_uc021qzg.1_Missense_Mutation_p.L673I	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGAGGTTAAGGGTGGAACTG	0.542													T	57396685	G	T	57396685	3	4	280	1	0	0	0	0	1	0	0	0	17537	1000	35	5	125	5	ZBTB39	12	57396685	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	26587031	57396685	76455210	29	19695											
STARD13	90627	broad.mit.edu	37	13	33685935	33685935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr13:33685935C>A	uc001uuw.3	-	9	2713	c.2587G>T	c.(2587-2589)Gaa>Taa	p.E863*	STARD13_uc001uuu.3_Nonsense_Mutation_p.E855*|STARD13_uc001uuv.3_Nonsense_Mutation_p.E745*|STARD13_uc001uux.3_Nonsense_Mutation_p.E828*	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	863	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGTCGCATTCCATGATCATG	0.478													A	33685935	C	A	33685935	4	1	280	1	0	0	0	0	0	1	0	0	15255	864	30	5	774	5	STARD13	13	33685935	Nonsense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		33685935	81483943	30	19696											
SLC15A1	6564	broad.mit.edu	37	13	99337143	99337143	+	Silent	SNP	C	C	T	rs143994270	by1000genomes	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr13:99337143C>T	uc001vno.3	-	22	2039	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	654					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CCAGAAGCAACGCGGCAAATA	0.418													T	99337143	C	T	99337143	2	4	280	1	0	0	0	0	0	0	0	1	14398	523	19	1		1	SLC15A1	13	99337143	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	65651208	99337143	15832735	31	19697											
ASB2	51676	broad.mit.edu	37	14	94419793	94419793	+	Missense_Mutation	SNP	G	G	A	rs113529772		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:94419793G>A	uc001ycd.3	-	4	909	c.539C>T	c.(538-540)aCg>aTg	p.T180M	ASB2_uc001ycc.2_Missense_Mutation_p.T132M|ASB2_uc001yce.1_Missense_Mutation_p.T78M	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	132					intracellular signal transduction			p.T132R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCCTGCACGTTGCCAAGTA	0.587													A	94419793	G	A	94419793	3	1	280	1	0	0	0	0	1	0	0	0	1023	1145	40	1	1392	1	ASB2	14	94419793	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		94419793	12929747	32	19698											
JAG2	3714	broad.mit.edu	37	14	105622189	105622189	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:105622189C>T	uc001yqg.3	-	3	1017	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	JAG2_uc001yqh.3_Missense_Mutation_p.A205T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	205	DSL.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTGCAAGTGGCGCTGTAGTAG	0.627													T	105622189	C	T	105622189	3	4	280	1	0	0	0	0	1	0	0	0	7935	768	27	1	3195	1	JAG2	14	105622189	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	11202396	105622189	1727351	33	19699											
AQR	9716	broad.mit.edu	37	15	35193048	35193048	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:35193048A>G	uc001ziv.3	-	19	2199	c.2018T>C	c.(2017-2019)aTt>aCt	p.I673T		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	673						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAGGTTCCGAATAGTCTCCAG	0.448													G	35193048	A	G	35193048	3	3	280	1	0	0	0	0	1	0	0	0	835	101	4	4	2503	4	AQR	15	35193048	Missense_Mutation	SNP	A	TCGA-76-6664-01A-11D-1845-08		35193048	67338344	34	19700											
THBS1	7057	broad.mit.edu	37	15	39879564	39879564	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:39879564C>T	uc001zkh.3	+	7	1316	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	379	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACTCTGCGGACGATGGCTGGT	0.567													T	39879564	C	T	39879564	2	4	280	1	0	0	0	0	0	0	0	1	15850	535	19	1		1	THBS1	15	39879564	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	4686516	39879564	62651828	35	19701											
SPTBN5	51332	broad.mit.edu	37	15	42164092	42164092	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:42164092delA	uc001zos.3	-	27	5417	c.5084delT	c.(5083-5085)ctgfs	p.L1695fs		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1730					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATGCAGCCTCAGGGTCCCCTC	0.677													-	42164092	A	-	42164092	7	5	280	1	0	1	0	1	0	0	0	0	15121	188	7	0	5999	0	SPTBN5	15	42164092	Frame_Shift_Del	DEL	A	TCGA-76-6664-01A-11D-1845-08	2284528	42164092	60367300	36	19702											
ITFG3	83986	broad.mit.edu	37	16	315018	315018	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:315018G>A	uc002cgf.3	+	12	1851	c.1656G>A	c.(1654-1656)gcG>gcA	p.A552A	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Silent_p.A552A	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	552						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGAGTGAGGCGTAGAGGCACG	0.647													A	315018	G	A	315018	2	1	280	1	0	0	0	0	0	0	0	1	7871	1132	40	1		1	ITFG3	16	315018	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08		315018	90039735	37	19703											
PTX4	390667	broad.mit.edu	37	16	1537647	1537647	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:1537647G>A	uc010uvf.2	-	1	451	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	156						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCCTCCAGGCGTGCCAGTGAG	0.741													A	1537647	G	A	1537647	3	1	280	1	0	0	0	0	1	0	0	0	12823	1145	40	1	977	1	PTX4	16	1537647	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	1222629	1537647	88817106	38	19704											
CIITA	4261	broad.mit.edu	37	16	10997663	10997663	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:10997663G>A	uc002daj.4	+	8	984	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	CIITA_uc002dai.4_Missense_Mutation_p.R283Q|CIITA_uc002dak.4_Missense_Mutation_p.R234Q|CIITA_uc002dag.2_Missense_Mutation_p.R283Q|CIITA_uc002dah.2_Missense_Mutation_p.R235Q|CIITA_uc010bup.1_Missense_Mutation_p.R283Q	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	283					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTCCAGACCGGCCAGGCTCC	0.627			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								A	10997663	G	A	10997663	3	1	280	1	0	0	0	0	1	0	0	0	3428	1116	39	2	882	2	CIITA	16	10997663	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	9460016	10997663	79357090	39	19705											
ERN2	10595	broad.mit.edu	37	16	23718095	23718095	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:23718095C>T	uc002dma.4	-	5	780	c.611G>A	c.(610-612)cGc>cAc	p.R204H	ERN2_uc010bxp.3_Missense_Mutation_p.R204H|ERN2_uc010bxq.1_Missense_Mutation_p.R12H	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGA	0.607													T	23718095	C	T	23718095	3	4	280	1	0	0	0	0	1	0	0	0	5238	768	27	1	2381	1	ERN2	16	23718095	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	12720432	23718095	66636658	40	19706											
C16orf82	162083	broad.mit.edu	37	16	27078770	27078770	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:27078770delG	uc010vcm.2	+	0	552	c.451delG	c.(451-453)gggfs	p.G151fs		NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN	Homo sapiens chromosome 16 open reading frame 82 (C16orf82), mRNA.	215																	GCAGACTGGAGGGAAAGAGTG	0.652													-	27078770	G	-	27078770	7	5	280	1	0	1	0	1	0	0	0	0	1838	1000	35	0	456	0	C16orf82	16	27078770	Frame_Shift_Del	DEL	G	TCGA-76-6664-01A-11D-1845-08	3360675	27078770	63275983	41	19707											
PHF23	79142	broad.mit.edu	37	17	7139423	7139423	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:7139423G>A	uc002gfa.3	-	3	1050	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L208L|PHF23_uc010cma.3_Silent_p.L145L	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	275							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGTGTTGGCAGCACAGGGACT	0.587													A	7139423	G	A	7139423	2	1	280	1	0	0	0	0	0	0	0	1	11835	962	34	3		3	PHF23	17	7139423	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08		7139423	74055787	42	19708											
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	280	1	0	0	0	0	1	0	0	0	16378	1115	39	2	548	2	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	438116	7577539	73617671	43	19709											
MYH1	4619	broad.mit.edu	37	17	10398535	10398535	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:10398535C>G	uc002gmo.3	-	35	5363	c.5269G>C	c.(5269-5271)Gag>Cag	p.E1757Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1757						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGGCCTTCTCTTCTGCATTG	0.473													G	10398535	C	G	10398535	3	3	280	1	0	0	0	0	1	0	0	0	10029	922	32	5	570	5	MYH1	17	10398535	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	2820996	10398535	70796675	44	19710											
KRT14	3861	broad.mit.edu	37	17	39742796	39742796	+	Silent	SNP	A	A	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:39742796A>C	uc002hxf.2	-	0	352	c.291T>G	c.(289-291)ggT>ggG	p.G97G	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	97	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caaagccaccacccaagccag	0.622													C	39742796	A	C	39742796	2	2	280	1	0	0	0	0	0	0	0	1	8451	146	6	5		5	KRT14	17	39742796	Silent	SNP	A	TCGA-76-6664-01A-11D-1845-08	29344261	39742796	41452414	45	19711											
MIER2	54531	broad.mit.edu	37	19	313632	313632	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:313632C>T	uc002lok.1	-	7	676	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	223	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		AGCTGGTCTTCGTTCTCGTAG	0.622													T	313632	C	T	313632	3	4	280	1	0	0	0	0	1	0	0	0	9581	893	31	2	998	2	MIER2	19	313632	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		313632	58815351	46	19712											
MUC16	94025	broad.mit.edu	37	19	9089511	9089511	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:9089511G>A	uc002mkp.3	-	0	2508	c.2304C>T	c.(2302-2304)gcC>gcT	p.A768A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	768	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A768A(3)		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						AGGAAAGAACGGCTGAGCTGG	0.483													A	9089511	G	A	9089511	2	1	280	1	0	0	0	0	0	0	0	1	9973	1103	39	2		2	MUC16	19	9089511	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	8775879	9089511	50039472	47	19713											
DCAF15	90379	broad.mit.edu	37	19	14071180	14071180	+	Silent	SNP	G	G	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:14071180G>C	uc002mxt.3	+	10	1614	c.1608G>C	c.(1606-1608)ctG>ctC	p.L536L	DCAF15_uc002mxu.3_Non-coding_Transcript	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	536										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TAGGCGACCTGACTGAGGTCA	0.637											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	14071180	G	C	14071180	2	2	280	1	0	0	0	0	0	0	0	1	4267	1277	45	5		5	DCAF15	19	14071180	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	4981669	14071180	45057803	48	19714											
XRN2	22803	broad.mit.edu	37	20	21367621	21367621	+	Silent	SNP	C	C	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:21367621C>A	uc002wsf.1	+	28	2859	c.2764C>A	c.(2764-2766)Cga>Aga	p.R922R	XRN2_uc002wsg.1_Silent_p.R846R|XRN2_uc010zsk.1_Silent_p.R868R|XRN2_uc002wsh.1_Silent_p.R60R	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	922					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TCCACCCAGACGAGATGATCG	0.502													A	21367621	C	A	21367621	2	1	280	1	0	0	0	0	0	0	0	1	17457	528	19	5		5	XRN2	20	21367621	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		21367621	41657899	49	19715											
MMP9	4318	broad.mit.edu	37	20	44639885	44639885	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:44639885C>T	uc002xqz.3	+	4	772	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	251	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GTCGCTCCGACGGCTTGCCCT	0.657													T	44639885	C	T	44639885	2	4	280	1	0	0	0	0	0	0	0	1	9669	535	19	1		1	MMP9	20	44639885	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	23272264	44639885	18385635	50	19716											
ARFGEF2	10564	broad.mit.edu	37	20	47639713	47639713	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:47639713G>A	uc002xtx.4	+	34	4902	c.4750G>A	c.(4750-4752)Gcc>Acc	p.A1584T	ARFGEF2_uc010zyf.2_Missense_Mutation_p.A877T	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1584					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CATGGTTGCCGCCCAGGTAAG	0.517													A	47639713	G	A	47639713	3	1	280	1	0	0	0	0	1	0	0	0	853	1087	38	1	4888	1	ARFGEF2	20	47639713	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	2999828	47639713	15385807	51	19717											
HRH3	11255	broad.mit.edu	37	20	60791534	60791534	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:60791534G>A	uc002yci.3	-	2	1163	c.866C>T	c.(865-867)gCg>gTg	p.A289V	HRH3_uc002ycf.2_Missense_Mutation_p.A289V|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	289					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCCGAGGGTCGCCTCCCCGGC	0.736													A	60791534	G	A	60791534	3	1	280	1	0	0	0	0	1	0	0	0	7357	1087	38	1	475	1	HRH3	20	60791534	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	13151821	60791534	2233986	52	19718											
TMPRSS15	5651	broad.mit.edu	37	21	19642347	19642347	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr21:19642347C>T	uc002ykw.3	-	24	3030	c.2999G>A	c.(2998-3000)cGc>cAc	p.R1000H		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	1000	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACTCCGGGGCGATTAGGCAG	0.448													T	19642347	C	T	19642347	3	4	280	1	0	0	0	0	1	0	0	0	16243	768	27	1	64	1	TMPRSS15	21	19642347	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		19642347	28487548	53	19719											
LZTR1	150209	broad.mit.edu	37	22	21332217	21332217	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr22:21332217A>T	uc002ztj.2	+	15	1618	c.1400A>T	c.(1399-1401)gAt>gTt	p.D467V	LZTR1_uc002ztk.2_Missense_Mutation_p.D467V|LZTR1_uc002ztl.2_Missense_Mutation_p.D473V|LZTR1_uc011ahx.1_Missense_Mutation_p.D455V|LZTR1_uc002ztn.3_5'Flank	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCAGCTGGCGATGCTGTCACC	0.582													T	21332217	A	T	21332217	3	4	280	1	0	0	0	0	1	0	0	0	9137	333	12	5		5	LZTR1	22	21332217	Missense_Mutation	SNP	A	TCGA-76-6664-01A-11D-1845-08		21332217	29972349	54	19720											
PNPLA4	8228	broad.mit.edu	37	X	7870101	7870101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:7870101G>A	uc011mhq.1	-	5	721	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PNPLA4_uc011mhr.1_Nonsense_Mutation_p.R187*|PNPLA4_uc011mhs.1_Nonsense_Mutation_p.R100*	NM_004650	NP_001166143	P41247	PLPL4_HUMAN	Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.	187			R -> Q (in dbSNP:rs2231793).		lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				ATGTCCAGTCGTCCACTGAAG	0.512													A	7870101	G	A	7870101	4	1	280	1	0	0	0	0	0	1	0	0	12167	1153	40	1	210	1	PNPLA4	23	7870101	Nonsense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		7870101	147400459	55	19721											
SMS	6611	broad.mit.edu	37	X	21995314	21995314	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:21995314G>A	uc004dag.3	+	4	693	c.465G>A	c.(463-465)tcG>tcA	p.S155S	SMS_uc011mjq.2_Silent_p.S59S	NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	155					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	p.S155L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TTCTACACTCGAAGCAGTTTG	0.433													A	21995314	G	A	21995314	2	1	280	1	0	0	0	0	0	0	0	1	14813	1045	37	2		2	SMS	23	21995314	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	14125213	21995314	133275246	56	19722											
MAOB	4129	broad.mit.edu	37	X	43628565	43628565	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:43628565C>G	uc004dfz.4	-	12	1512	c.1336G>C	c.(1336-1338)Gca>Cca	p.A446P	MAOB_uc011mkx.2_Missense_Mutation_p.S397T|MAOB_uc011mky.2_Missense_Mutation_p.A430P	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	446					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCTCGGGCTGCTCTCTCCCCG	0.572													G	43628565	C	G	43628565	3	3	280	1	0	0	0	0	1	0	0	0	9226	797	28	5	238	5	MAOB	23	43628565	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	21633251	43628565	111641995	57	19723											
CFP	5199	broad.mit.edu	37	X	47486225	47486225	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:47486225C>G	uc004dih.3	-	6	1129	c.887G>C	c.(886-888)tGt>tCt	p.C296S	CFP_uc004dig.4_Missense_Mutation_p.C296S|CFP_uc004dii.1_Missense_Mutation_p.C232S|CFP_uc010nhu.2_Missense_Mutation_p.C296S	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	296	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATCGCCAGCACAGAAGGGGCC	0.642													G	47486225	C	G	47486225	3	3	280	1	0	0	0	0	1	0	0	0	3293	478	17	5	538	5	CFP	23	47486225	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	3857660	47486225	107784335	58	19724											
DGAT2L6	347516	broad.mit.edu	37	X	69421881	69421881	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:69421881G>A	uc004dxx.1	+	4	711	c.614G>A	c.(613-615)cGt>cAt	p.R205H		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	205					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CTCAAGCAGCGTAAAGGTTTT	0.547													A	69421881	G	A	69421881	3	1	280	1	0	0	0	0	1	0	0	0	4459	1145	40	1	632	1	DGAT2L6	23	69421881	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	21935656	69421881	85848679	59	19725											
ATP7A	538	broad.mit.edu	37	X	77296145	77296145	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:77296145G>T	uc004ecx.4	+	18	3875	c.3715G>T	c.(3715-3717)Gct>Tct	p.A1239S		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1239					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGCAGAACTGGCTATCCATAT	0.413													T	77296145	G	T	77296145	3	4	280	1	0	0	0	0	1	0	0	0	1190	1203	42	5	3785	5	ATP7A	23	77296145	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	7874264	77296145	77974415	60	19726											
TMSB15A	11013	broad.mit.edu	37	X	101770022	101770022	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:101770022C>T	uc004eje.3	-	1	193	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_021992	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15a (TMSB15A), mRNA.	24					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			large_intestine(1)|lung(1)	2						TTTTTTTCTTCAGTATTAGTT	0.368													T	101770022	C	T	101770022	3	4	280	1	0	0	0	0	1	0	0	0	16252	835	29	3	75	3	TMSB15A	23	101770022	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	24473877	101770022	53500538	61	19727											
RAB9B	51209	broad.mit.edu	37	X	103080388	103080388	+	Silent	SNP	C	C	T	rs142893082	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:103080388C>T	uc004ell.2	-	2	666	c.327G>A	c.(325-327)gcG>gcA	p.A109A	RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Silent_p.A109A	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.	109					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						CCTTCACATCCGCATAGTAAA	0.488													T	103080388	C	T	103080388	2	4	280	1	0	0	0	0	0	0	0	1	12959	639	23	2		2	RAB9B	23	103080388	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	1310366	103080388	52190172	62	19728											
HMGB4	127540	broad.mit.edu	37	1	34330273	34330273	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:34330273C>T	uc021oky.1	+	0	481	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.R161C|HMGB4_uc001bxq.3_Missense_Mutation_p.R87C	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	161						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAACTCTACCGTAAACAATG	0.478													T	34330273	C	T	34330273	3	4	281	1	0	0	0	0	1	0	0	0	7228	652	23	2	483	2	HMGB4	1	34330273	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		34330273	214920348	1	19729											
STK40	83931	broad.mit.edu	37	1	36820904	36820904	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:36820904T>C	uc001cak.1	-	5	880	c.473A>G	c.(472-474)aAc>aGc	p.N158S	STK40_uc001cal.1_Missense_Mutation_p.N163S|STK40_uc001cam.1_Missense_Mutation_p.N158S|STK40_uc001can.1_Missense_Mutation_p.N158S	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	158	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GTGCTGCAGGTTGATGAGGTC	0.562													C	36820904	T	C	36820904	3	2	281	1	0	0	0	0	1	0	0	0	15306	1725	60	4	862	4	STK40	1	36820904	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	2490631	36820904	212429717	2	19730											
IFI44L	10964	broad.mit.edu	37	1	79094655	79094655	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:79094655C>T	uc010oro.2	+	2	677	c.498C>T	c.(496-498)gaC>gaT	p.D166D	IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	166						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATAACCTAGACGACATAAAGA	0.294													T	79094655	C	T	79094655	2	4	281	1	0	0	0	0	0	0	0	1	7518	535	19	1		1	IFI44L	1	79094655	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	42273751	79094655	170155966	3	19731											
OR6N1	128372	broad.mit.edu	37	1	158735944	158735944	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:158735944C>T	uc010piq.2	-	0	529	c.529G>A	c.(529-531)Gtc>Atc	p.V177I		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V177V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCACAAAAGACGTGCTGAATG	0.473													T	158735944	C	T	158735944	3	4	281	1	0	0	0	0	1	0	0	0	11206	536	19	1	412	1	OR6N1	1	158735944	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	79641289	158735944	90514677	4	19732											
USH2A	7399	broad.mit.edu	37	1	216419959	216419959	+	Missense_Mutation	SNP	C	C	T	rs146916397	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:216419959C>T	uc001hku.1	-	12	3164	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	USH2A_uc001hkv.3_Missense_Mutation_p.R926H	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	926	Laminin EGF-like 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		TCTTCCTTGACGATTAGGCAC	0.423										HNSCC(13;0.011)			T	216419959	C	T	216419959	3	4	281	1	0	0	0	0	1	0	0	0	17033	536	19	1	13085	1	USH2A	1	216419959	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	57684015	216419959	32830662	5	19733											
OR2L2	26246	broad.mit.edu	37	1	248202093	248202094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:248202093_248202094insT	uc001idw.3	+	0	620_621	c.524_525insT	c.(523-525)catfs	p.H175fs	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H175Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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;0.0278)			GCCATCAATCATTTTTTCTGTG	0.431													T	248202094	-	T	248202093	7	5	281	1	0	1	1	0	0	0	0	0	11007	217	8	0	526	0	OR2L2	1	248202093	Frame_Shift_Ins	INS	-	TCGA-81-5910-01A-11D-1696-08	31782134	248202093	1048528	6	19734											
AFF3	3899	broad.mit.edu	37	2	100209854	100209854	+	Missense_Mutation	SNP	G	G	C	rs56151323		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:100209854G>C	uc002taf.3	-	13	2488	c.2344C>G	c.(2344-2346)Cta>Gta	p.L782V	AFF3_uc002tag.3_Missense_Mutation_p.L757V|AFF3_uc010fiq.1_Missense_Mutation_p.L757V|AFF3_uc010yvr.1_Missense_Mutation_p.L910V|AFF3_uc002tah.1_Missense_Mutation_p.L782V	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	757					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGTCCTTTAGAGGGGAGAGA	0.572													C	100209854	G	C	100209854	3	2	281	1	0	0	0	0	1	0	0	0	358	933	33	5	1455	5	AFF3	2	100209854	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		100209854	142989519	7	19735											
SCN9A	6335	broad.mit.edu	37	2	167162345	167162345	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:167162345G>A	uc010fpl.3	-	4	894	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SCN9A_uc002udr.1_Missense_Mutation_p.R56C|SCN9A_uc002uds.1_Missense_Mutation_p.R56C|SCN9A_uc002udt.1_Missense_Mutation_p.R56C	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	185						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACGGGTCACGAAGAAAAGTG	0.378													A	167162345	G	A	167162345	3	1	281	1	0	0	0	0	1	0	0	0	13925	1058	37	2	5472	2	SCN9A	2	167162345	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	66952491	167162345	76037028	8	19736											
XIRP2	129446	broad.mit.edu	37	2	168100110	168100110	+	Silent	SNP	C	C	T	rs76149079	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:168100110C>T	uc002udx.3	+	8	2297	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F561F|XIRP2_uc010fpq.3_Silent_p.F514F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	561					actin cytoskeleton organization	cell junction	actin binding			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						TAAAATGTTTCGAAACTCAAC	0.368													T	168100110	C	T	168100110	2	4	281	1	0	0	0	0	0	0	0	1	17427	883	31	2		2	XIRP2	2	168100110	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	937765	168100110	75099263	9	19737											
LRP2	4036	broad.mit.edu	37	2	170145548	170145548	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:170145548G>A	uc002ues.3	-	8	1243	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	LRP2_uc010zdf.1_Missense_Mutation_p.R344C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	344	EGF-like 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACAGGTACGGCTGTCATTG	0.522													A	170145548	G	A	170145548	3	1	281	1	0	0	0	0	1	0	0	0	8956	1116	39	2	13221	2	LRP2	2	170145548	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	2045438	170145548	73053825	10	19738											
TTN	7273	broad.mit.edu	37	2	179498195	179498195	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:179498195G>A	uc021vsy.1	-	180	35412	c.35187C>T	c.(35185-35187)ggC>ggT	p.G11729G	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.G5424G|TTN_uc021vta.1_Silent_p.G5357G|TTN_uc021vtb.1_Silent_p.G5232G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12656	Glu-rich.|Pro-rich.						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)			ACACATATTCGCCTTTATCTT	0.428													A	179498195	G	A	179498195	2	1	281	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179498195	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	9352647	179498195	63701178	11	19739											
MPP4	58538	broad.mit.edu	37	2	202545627	202545627	+	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:202545627T>G	uc002uyk.4	-	9	1071	c.863A>C	c.(862-864)cAg>cCg	p.Q288P	MPP4_uc010ftj.3_Missense_Mutation_p.Q288P|MPP4_uc010zhq.2_Missense_Mutation_p.Q288P|MPP4_uc010zht.2_Missense_Mutation_p.Q261P|MPP4_uc010zhr.2_Missense_Mutation_p.Q288P|MPP4_uc010zhs.2_Missense_Mutation_p.Q244P|MPP4_uc002uyj.4_Missense_Mutation_p.Q244P|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.Q275P|MPP4_uc002uym.1_Missense_Mutation_p.Q257P|MPP4_uc002uyn.3_Missense_Mutation_p.Q244P	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	288	SH3.					cytoplasm	protein binding			kidney(1)|lung(11)	12						TTTTCGGGCCTGCCACCAGAG	0.582											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	202545627	T	G	202545627	3	3	281	1	0	0	0	0	1	0	0	0	9736	1580	55	5	1102	5	MPP4	2	202545627	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	23047432	202545627	40653746	12	19740											
PAX3	5077	broad.mit.edu	37	2	223066892	223066892	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:223066892G>A	uc010fwo.3	-	7	1572	c.1191C>T	c.(1189-1191)acC>acT	p.T397T	PAX3_uc002vmt.2_Silent_p.T397T|PAX3_uc002vmy.2_Silent_p.T396T|PAX3_uc002vmv.2_Silent_p.T397T|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	397					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		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)		CACCGTGGTTGGTCAGGAGTC	0.537			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						A	223066892	G	A	223066892	2	1	281	1	0	0	0	0	0	0	0	1	11480	1335	47	3		3	PAX3	2	223066892	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	20521265	223066892	20132481	13	19741											
CRELD1	78987	broad.mit.edu	37	3	9976243	9976243	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:9976243C>A	uc003buf.3	+	1	220	c.121C>A	c.(121-123)Cct>Act	p.P41T	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.P41T|CRELD1_uc003bug.3_Missense_Mutation_p.P41T	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	41	Pro-rich.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TTCTCCCCCGCCTCAGCCCCA	0.617													A	9976243	C	A	9976243	3	1	281	1	0	0	0	0	1	0	0	0	3866	739	26	5	123	5	CRELD1	3	9976243	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		9976243	188046187	14	19742											
STXBP5L	9515	broad.mit.edu	37	3	120976169	120976169	+	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:120976169T>G	uc003eec.4	+	16	1961	c.1821T>G	c.(1819-1821)atT>atG	p.I607M	STXBP5L_uc011bji.2_Missense_Mutation_p.I607M	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	607					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGGACAGTATTCCATGCCTCA	0.368													G	120976169	T	G	120976169	3	3	281	1	0	0	0	0	1	0	0	0	15356	1771	62	5	1883	5	STXBP5L	3	120976169	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	110999926	120976169	77046261	15	19743											
TP63	8626	broad.mit.edu	37	3	189456442	189456442	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:189456442C>T	uc003fry.2	+	2	292	c.203C>T	c.(202-204)tCa>tTa	p.S68L	TP63_uc003frx.2_Missense_Mutation_p.S68L|TP63_uc003frz.2_Missense_Mutation_p.S68L|TP63_uc010hzc.1_Missense_Mutation_p.S68L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	68	Transcription activation.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTATATGTTCAGTTCAGCCC	0.408										HNSCC(45;0.13)			T	189456442	C	T	189456442	3	4	281	1	0	0	0	0	1	0	0	0	16389	838	29	3	213	3	TP63	3	189456442	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	68480273	189456442	8565988	16	19744											
ANAPC4	29945	broad.mit.edu	37	4	25416009	25416009	+	Splice_Site	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:25416009T>C	uc003gro.3	+	23	1814	c.1685_splice	c.e23+2	p.S562_splice	ANAPC4_uc003grp.3_Splice_Site_p.S448_splice|ANAPC4_uc003grq.3_Splice_Site_p.S15_splice	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	562					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TACCAGAAGGTAATTCTGTTT	0.299													C	25416009	T	C	25416009	5	2	281	1	0	0	0	0	0	0	1	0	604	1652	57	4	1773	4	ANAPC4	4	25416009	Splice_Site	SNP	T	TCGA-81-5910-01A-11D-1696-08		25416009	165738267	17	19745											
NIPAL1	152519	broad.mit.edu	37	4	48027184	48027184	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:48027184T>C	uc003gxw.3	+	1	212	c.146T>C	c.(145-147)cTg>cCg	p.L49P		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	49						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TACACGGACCTGAATTACAGC	0.438													C	48027184	T	C	48027184	3	2	281	1	0	0	0	0	1	0	0	0	10424	1580	55	4	152	4	NIPAL1	4	48027184	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	22611175	48027184	143127092	18	19746											
KDR	3791	broad.mit.edu	37	4	55946311	55946311	+	Missense_Mutation	SNP	T	T	G	rs66480054		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:55946311T>G	uc003has.3	-	29	4170	c.3868A>C	c.(3868-3870)Agc>Cgc	p.S1290R	KDR_uc003hat.1_Missense_Mutation_p.S1290R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1290					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			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)	GACTCCCTGCTTTTGCTGGGC	0.507			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			G	55946311	T	G	55946311	3	3	281	1	0	0	0	0	1	0	0	0	8139	1609	56	5	206	5	KDR	4	55946311	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	7919127	55946311	135207965	19	19747											
CARD6	84674	broad.mit.edu	37	5	40853460	40853460	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr5:40853460G>A	uc003jmg.3	+	2	2101	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	676					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGAAAACATGGCTGGGACAGC	0.493													A	40853460	G	A	40853460	3	1	281	1	0	0	0	0	1	0	0	0	2650	1203	42	3	2036	3	CARD6	5	40853460	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		40853460	140061800	20	19748											
TREM1	54210	broad.mit.edu	37	6	41254356	41254356	+	Missense_Mutation	SNP	A	A	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr6:41254356A>G	uc003oqf.2	-	0	102	c.38T>C	c.(37-39)cTc>cCc	p.L13P	TREM1_uc003oqg.2_Missense_Mutation_p.L13P|TREM1_uc021yzj.1_Missense_Mutation_p.L13P	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	13					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	TGAGACAAAGAGCATCCACAG	0.587													G	41254356	A	G	41254356	3	3	281	1	0	0	0	0	1	0	0	0	16467	304	11	4	682	4	TREM1	6	41254356	Missense_Mutation	SNP	A	TCGA-81-5910-01A-11D-1696-08		41254356	129860711	21	19749											
BVES	11149	broad.mit.edu	37	6	105577294	105577294	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr6:105577294T>C	uc003pqw.3	-	2	468	c.311A>G	c.(310-312)aAc>aGc	p.N104S	BVES_uc003pqx.3_Missense_Mutation_p.N104S|BVES_uc003pqy.3_Missense_Mutation_p.N104S	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	104					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATGCAAAATGTTGACACCCAA	0.363													C	105577294	T	C	105577294	3	2	281	1	0	0	0	0	1	0	0	0	1575	1725	60	4	795	4	BVES	6	105577294	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	64322938	105577294	65537773	22	19750											
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:55221710C>T	uc003tqk.3	+	6	1000	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221710	C	T	55221710	3	4	281	1	0	0	0	0	1	0	0	0	4967	652	23	2	780	2	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		55221710	103916953	23	19751											
MCM7	4176	broad.mit.edu	37	7	99691889	99691889	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:99691889G>A	uc003usw.1	-	12	2265	c.1755C>T	c.(1753-1755)taC>taT	p.Y585Y	MCM7_uc003usv.1_Silent_p.Y409Y|MCM7_uc003usx.1_Silent_p.Y409Y|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	585	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TCATCTCCACGTATGCTGCTG	0.577													A	99691889	G	A	99691889	2	1	281	1	0	0	0	0	0	0	0	1	9392	1140	40	1		1	MCM7	7	99691889	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	44470179	99691889	59446774	24	19752											
FBXL13	222235	broad.mit.edu	37	7	102669857	102669857	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:102669857C>T	uc003vaq.2	-	2	436	c.9G>A	c.(7-9)ccG>ccA	p.P3P	FBXL13_uc010lir.1_Silent_p.P3P|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.P3P|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	3										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCATCAATTCCGGAGTCATCT	0.294													T	102669857	C	T	102669857	2	4	281	1	0	0	0	0	0	0	0	1	5709	639	23	2		2	FBXL13	7	102669857	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	2977968	102669857	56468806	25	19753											
RELN	5649	broad.mit.edu	37	7	103234169	103234169	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:103234169C>T	uc022ajr.1	-	26	4032	c.3872G>A	c.(3871-3873)cGa>cAa	p.R1291Q	RELN_uc022ajq.1_Missense_Mutation_p.R1291Q|RELN_uc010liz.3_Missense_Mutation_p.R1291Q	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1291					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			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)		GGTCAAATCTCGAGTTACTGC	0.393													T	103234169	C	T	103234169	3	4	281	1	0	0	0	0	1	0	0	0	13220	884	31	2	6666	2	RELN	7	103234169	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	564312	103234169	55904494	26	19754											
NOBOX	135935	broad.mit.edu	37	7	144098554	144098554	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:144098554C>T	uc022aoj.1	-	3	429	c.429G>A	c.(427-429)ccG>ccA	p.P143P		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	143					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.P143P(3)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGACTGCTGGCGGCTTCTTCT	0.652													T	144098554	C	T	144098554	2	4	281	1	0	0	0	0	0	0	0	1	10512	755	27	1		1	NOBOX	7	144098554	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	40864385	144098554	15040109	27	19755											
C9orf66	157983	broad.mit.edu	37	9	215042	215042	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:215042C>A	uc003zge.4	-	0	852	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	DOCK8_uc011lls.1_Intron|DOCK8_uc003zgf.2_Intron	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.	119										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AAGACGCCCCCCGCGGCGCGC	0.731													A	215042	C	A	215042	3	1	281	1	0	0	0	0	1	0	0	0	2490	623	22	5	536	5	C9orf66	9	215042	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		215042	140998389	28	19756											
FREM1	158326	broad.mit.edu	37	9	14848723	14848723	+	Missense_Mutation	SNP	T	T	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:14848723T>A	uc003zlm.3	-	7	2017	c.1201A>T	c.(1201-1203)Aca>Tca	p.T401S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	401					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.P400P(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTGGACTGTCATAGGTGCA	0.448													A	14848723	T	A	14848723	3	1	281	1	0	0	0	0	1	0	0	0	6044	1667	58	5	5512	5	FREM1	9	14848723	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	14633681	14848723	126364708	29	19757											
OR13F1	138805	broad.mit.edu	37	9	107267210	107267210	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:107267210G>A	uc011lvm.2	+	0	667	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTATCCTCGCCAGTATCCT	0.478													A	107267210	G	A	107267210	3	1	281	1	0	0	0	0	1	0	0	0	10941	1087	38	1	669	1	OR13F1	9	107267210	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	92418487	107267210	33946221	30	19758											
ANGPTL2	23452	broad.mit.edu	37	9	129854001	129854001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:129854001C>T	uc004bqr.1	-	3	1730	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Nonsense_Mutation_p.W108*	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	410	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCCGTTGTGCCATGTAAAGG	0.532													T	129854001	C	T	129854001	4	4	281	1	0	0	0	0	0	1	0	0	614	740	26	3	259	3	ANGPTL2	9	129854001	Nonsense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	22586791	129854001	11359430	31	19759											
SETX	23064	broad.mit.edu	37	9	135202099	135202099	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:135202099T>C	uc004cbk.3	-	9	5069	c.4886A>G	c.(4885-4887)aAg>aGg	p.K1629R	SETX_uc004cbj.3_Missense_Mutation_p.K1248R|SETX_uc010mzt.3_Missense_Mutation_p.K1248R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1629					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTATCCCCTTTGACTTATT	0.398													C	135202099	T	C	135202099	3	2	281	1	0	0	0	0	1	0	0	0	14141	1609	56	4	3215	4	SETX	9	135202099	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	5348098	135202099	6011332	32	19760											
RALGDS	5900	broad.mit.edu	37	9	135975714	135975714	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:135975714T>C	uc004cco.3	-	16	2530	c.2510A>G	c.(2509-2511)aAc>aGc	p.N837S	RALGDS_uc004ccn.3_Missense_Mutation_p.N25S|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.N825S|RALGDS_uc004ccr.3_Missense_Mutation_p.N836S|RALGDS_uc011mcv.2_Missense_Mutation_p.N808S|RALGDS_uc004ccs.3_Missense_Mutation_p.N782S|RALGDS_uc011mcw.2_Missense_Mutation_p.N908S|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	837	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTCCTCCAGGTTGTGTTTGTC	0.592			T	CIITA	"PMBL, Hodgkin Lymphona, "								C	135975714	T	C	135975714	3	2	281	1	0	0	0	0	1	0	0	0	13016	1725	60	4	242	4	RALGDS	9	135975714	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	773615	135975714	5237717	33	19761											
PTEN	5728	broad.mit.edu	37	10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr10:89711891G>A	uc001kfb.3	+	5	1541	c.509G>A	c.(508-510)aGt>aAt	p.S170N	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	170	Phosphatase tensin-type.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S170N(12)|p.S170I(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170_Q171del(1)|p.G165_K342del(1)|p.S170G(1)|p.S170fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89711891	G	A	89711891	3	1	281	1	0	0	0	0	1	0	0	0	12738	1029	36	3	531	3	PTEN	10	89711891	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		89711891	45822856	34	19762											
CELF1	10658	broad.mit.edu	37	11	47496959	47496959	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:47496959G>A	uc001nfp.3	-	12	1604	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	CELF1_uc001nfl.3_Missense_Mutation_p.A373V|CELF1_uc010rhm.2_Missense_Mutation_p.A372V|CELF1_uc001nfm.3_Missense_Mutation_p.A370V|CELF1_uc001nfk.2_Missense_Mutation_p.A399V|CELF1_uc001nfn.3_Missense_Mutation_p.A369V|CELF1_uc001nfr.1_Missense_Mutation_p.A373V	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	373	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGTGGGGAGCGCAGCAGCAGC	0.577													A	47496959	G	A	47496959	3	1	281	1	0	0	0	0	1	0	0	0	3215	1087	38	1	354	1	CELF1	11	47496959	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		47496959	87509557	35	19763											
ANO1	55107	broad.mit.edu	37	11	70009414	70009414	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:70009414G>A	uc001opj.3	+	18	2223	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.V582M|ANO1_uc010rqk.2_Missense_Mutation_p.V349M	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	640					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GGGCGACTACGTGTACATTTT	0.527													A	70009414	G	A	70009414	3	1	281	1	0	0	0	0	1	0	0	0	695	1145	40	1	1992	1	ANO1	11	70009414	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	22512455	70009414	64997102	36	19764											
NFRKB	4798	broad.mit.edu	37	11	129762715	129762715	+	Missense_Mutation	SNP	A	A	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:129762715A>C	uc001qfg.3	-	0	190	c.69T>G	c.(67-69)gaT>gaG	p.D23E	NFRKB_uc001qfi.3_Missense_Mutation_p.D10E|NFRKB_uc001qfh.3_Missense_Mutation_p.D33E|NFRKB_uc010sbw.1_Missense_Mutation_p.D10E	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	10					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCCAGAGGATCTGTCAGCA	0.522													C	129762715	A	C	129762715	3	2	281	1	0	0	0	0	1	0	0	0	10384	330	12	5	4005	5	NFRKB	11	129762715	Missense_Mutation	SNP	A	TCGA-81-5910-01A-11D-1696-08	59753301	129762715	5243801	37	19765											
CACNA1C	775	broad.mit.edu	37	12	2602399	2602399	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:2602399G>A	uc009zdu.1	+	6	1273	c.960G>A	c.(958-960)acG>acA	p.T320T	CACNA1C_uc001qkc.2_Silent_p.T320T|CACNA1C_uc001qjz.2_Silent_p.T320T|CACNA1C_uc001qkd.2_Silent_p.T320T|CACNA1C_uc001qke.2_Silent_p.T320T|CACNA1C_uc001qkf.2_Silent_p.T320T|CACNA1C_uc009zdw.1_Silent_p.T320T|CACNA1C_uc001qkg.2_Silent_p.T320T|CACNA1C_uc001qkh.2_Silent_p.T320T|CACNA1C_uc001qkl.2_Silent_p.T320T|CACNA1C_uc001qkj.2_Silent_p.T320T|CACNA1C_uc001qkk.2_Silent_p.T320T|CACNA1C_uc001qkn.2_Silent_p.T320T|CACNA1C_uc001qkm.2_Silent_p.T320T|CACNA1C_uc001qko.2_Silent_p.T320T|CACNA1C_uc001qkp.2_Silent_p.T320T|CACNA1C_uc001qkq.2_Silent_p.T320T|CACNA1C_uc001qku.2_Silent_p.T320T|CACNA1C_uc001qkr.2_Silent_p.T320T|CACNA1C_uc001qks.2_Silent_p.T320T|CACNA1C_uc001qkt.2_Silent_p.T320T|CACNA1C_uc009zdv.1_Silent_p.T317T|CACNA1C_uc001qkb.2_Silent_p.T320T|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.T56T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	320					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			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)	CGCTGGAAACGGGCCACGGGC	0.607													A	2602399	G	A	2602399	2	1	281	1	0	0	0	0	0	0	0	1	2540	1103	39	2		2	CACNA1C	12	2602399	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08		2602399	131249496	38	19766											
CCDC41	51134	broad.mit.edu	37	12	94761893	94761893	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:94761893C>T	uc001tdd.3	-	9	1719	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	CCDC41_uc001tde.3_Missense_Mutation_p.R378H|CCDC41_uc009zsw.1_Non-coding_Transcript	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	370										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTGTACTTTACGTATTAATTC	0.333													T	94761893	C	T	94761893	3	4	281	1	0	0	0	0	1	0	0	0	2813	536	19	1	1004	1	CCDC41	12	94761893	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	92159494	94761893	39090002	39	19767											
STAB2	55576	broad.mit.edu	37	12	104102273	104102273	+	Missense_Mutation	SNP	G	G	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:104102273G>T	uc001tjw.3	+	38	4433	c.4247G>T	c.(4246-4248)tGt>tTt	p.C1416F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1416					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATGGCTCCTGTGACTGTGAT	0.478													T	104102273	G	T	104102273	3	4	281	1	0	0	0	0	1	0	0	0	15237	1377	48	5	4401	5	STAB2	12	104102273	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	9340380	104102273	29749622	40	19768											
PCID2	55795	broad.mit.edu	37	13	113852564	113852564	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr13:113852564C>T	uc021rmt.1	-	2	222	c.141G>A	c.(139-141)gaG>gaA	p.E47E	PCID2_uc021rmq.1_Silent_p.E47E|PCID2_uc021rmr.1_Silent_p.E47E|PCID2_uc021rms.1_Silent_p.E47E|PCID2_uc001vtg.2_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	47					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GACACTTCTCCTCTGGAGAGG	0.358													T	113852564	C	T	113852564	2	4	281	1	0	0	0	0	0	0	0	1	11579	680	24	3		3	PCID2	13	113852564	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08		113852564	1317314	41	19769											
LRFN5	145581	broad.mit.edu	37	14	42356780	42356780	+	Missense_Mutation	SNP	A	A	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr14:42356780A>G	uc001wvm.3	+	2	2150	c.952A>G	c.(952-954)Att>Gtt	p.I318V	LRFN5_uc010ana.3_Missense_Mutation_p.I318V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	318	Ig-like.					integral to membrane		p.A317A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGCCTGCAATTCACTGGAT	0.463										HNSCC(30;0.082)			G	42356780	A	G	42356780	3	3	281	1	0	0	0	0	1	0	0	0	8941	101	4	4	954	4	LRFN5	14	42356780	Missense_Mutation	SNP	A	TCGA-81-5910-01A-11D-1696-08		42356780	64992760	42	19770											
NDN	4692	broad.mit.edu	37	15	23931738	23931738	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr15:23931738G>A	uc001ywk.3	-	0	713	c.627C>T	c.(625-627)gcC>gcT	p.A209A		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	209	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGTTCCAGACGGCGCTCTCTC	0.632									Prader-Willi syndrome				A	23931738	G	A	23931738	2	1	281	1	0	0	0	0	0	0	0	1	10247	1103	39	2		2	NDN	15	23931738	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08		23931738	78599654	43	19771											
ACSM1	116285	broad.mit.edu	37	16	20651783	20651783	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:20651783C>T	uc002dhm.1	-	7	1184	c.1116_splice	c.e7+1	p.T372_splice	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Splice_Site_p.T372_splice	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	372					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						caCCACCTACCGTTTCCGACT	0.483													T	20651783	C	T	20651783	2	4	281	1	0	0	0	0	0	0	0	1	182	666	23	2		2	ACSM1	16	20651783	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08		20651783	69702970	44	19772											
SCNN1B	6338	broad.mit.edu	37	16	23387159	23387159	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:23387159G>A	uc002dln.3	+	7	1429	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	418					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGCAACAACCGGGACTTCCCA	0.612													A	23387159	G	A	23387159	3	1	281	1	0	0	0	0	1	0	0	0	13928	1116	39	2	1279	2	SCNN1B	16	23387159	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	2735376	23387159	66967594	45	19773											
PKD1L2	114780	broad.mit.edu	37	16	81181775	81181775	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:81181775G>A	uc002fgh.1	-	28	4941	c.4941C>T	c.(4939-4941)gaC>gaT	p.D1647D	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1647					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			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						TCAGAAGGCCGTCCTCCATGG	0.642													A	81181775	G	A	81181775	2	1	281	1	0	0	0	0	0	0	0	1	11965	1136	40	1		1	PKD1L2	16	81181775	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	57794616	81181775	9172978	46	19774											
MTHFSD	64779	broad.mit.edu	37	16	86585659	86585659	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:86585659C>T	uc002fjn.3	-	2	268	c.217G>A	c.(217-219)Gtt>Att	p.V73I	MTHFSD_uc002fjm.3_Missense_Mutation_p.V72I|MTHFSD_uc010voo.2_Missense_Mutation_p.V53I|MTHFSD_uc010vop.2_5'UTR|MTHFSD_uc010voq.2_Intron|MTHFSD_uc010vor.2_Intron|MTHFSD_uc002fjo.3_Intron|MTHFSD_uc002fjp.2_Missense_Mutation_p.V53I	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	73					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCAGCCGAACGCCTTCCAGT	0.537													T	86585659	C	T	86585659	3	4	281	1	0	0	0	0	1	0	0	0	9933	536	19	1	958	1	MTHFSD	16	86585659	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	5403884	86585659	3769094	47	19775											
GLP2R	9340	broad.mit.edu	37	17	9783793	9783793	+	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:9783793T>G	uc002gmd.1	+	10	1244	c.1244T>G	c.(1243-1245)cTt>cGt	p.L415R		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	415					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTGCAAAACTTATACGACTT	0.393													G	9783793	T	G	9783793	3	3	281	1	0	0	0	0	1	0	0	0	6453	1609	56	5	1286	5	GLP2R	17	9783793	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08		9783793	71411417	48	19776											
PRKCA	5578	broad.mit.edu	37	17	64299034	64299034	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:64299034G>A	uc002jfo.1	+	0					PRKCA_uc002jfp.1_Missense_Mutation_p.R22H			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.						activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CGCTTCGCCCGCAAAGGGGCG	0.642													A	64299034	G	A	64299034	3	1	281	1	0	0	0	0	1	0	0	0	12507	1087	38	1	67	1	PRKCA	17	64299034	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	54515241	64299034	16896176	49	19777											
LAMA1	284217	broad.mit.edu	37	18	6956725	6956725	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr18:6956725G>A	uc002knm.3	-	55	8098	c.8004C>T	c.(8002-8004)gtC>gtT	p.V2668V	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.V121V|LAMA1_uc010wzj.2_Silent_p.V2144V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2668	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCCAGGTCGACTTGCTCAT	0.512													A	6956725	G	A	6956725	2	1	281	1	0	0	0	0	0	0	0	1	8605	1045	37	2		2	LAMA1	18	6956725	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08		6956725	71120523	50	19778											
SETBP1	26040	broad.mit.edu	37	18	42532158	42532158	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr18:42532158C>T	uc010dni.3	+	3	3149	c.2853C>T	c.(2851-2853)ctC>ctT	p.L951L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	951						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCGATGACCTCCAGTTTCTGG	0.502									Schinzel-Giedion syndrome				T	42532158	C	T	42532158	2	4	281	1	0	0	0	0	0	0	0	1	14129	842	30	3		3	SETBP1	18	42532158	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	35575433	42532158	35545090	51	19779											
FBN3	84467	broad.mit.edu	37	19	8130913	8130913	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:8130913G>A	uc002mjf.3	-	62	8337	c.8320C>T	c.(8320-8322)Cgg>Tgg	p.R2774W	FBN3_uc002mje.3_Missense_Mutation_p.R570W	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2774						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R2774L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACCTCCAGCCGGTAGGTTCCA	0.677													A	8130913	G	A	8130913	3	1	281	1	0	0	0	0	1	0	0	0	5704	1115	39	2	113	2	FBN3	19	8130913	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		8130913	50998070	52	19780											
ZNF536	9745	broad.mit.edu	37	19	30934790	30934790	+	Silent	SNP	C	C	T	rs144245375		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:30934790C>T	uc002nsu.1	+	1	459	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ZNF536_uc010edd.1_Silent_p.N107N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			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)					AGTTCCTCAACGGGCAGAACC	0.652													T	30934790	C	T	30934790	2	4	281	1	0	0	0	0	0	0	0	1	17971	535	19	1		1	ZNF536	19	30934790	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	22803877	30934790	28194193	53	19781											
PDCD2L	84306	broad.mit.edu	37	19	34895691	34895691	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:34895691C>T	uc002nvj.3	+	1	279	c.246C>T	c.(244-246)tgC>tgT	p.C82C		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	82						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGTGCGCCTGCCCCGGCTGTA	0.721													T	34895691	C	T	34895691	2	4	281	1	0	0	0	0	0	0	0	1	11620	747	26	3		3	PDCD2L	19	34895691	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	3960901	34895691	24233292	54	19782											
RYR1	6261	broad.mit.edu	37	19	38990276	38990276	+	Silent	SNP	C	C	T	rs138617219		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:38990276C>T	uc002oit.3	+	44	7158	c.7028_splice	c.e44-1	p.G2343_splice	RYR1_uc002oiu.3_Splice_Site_p.G2343_splice|RYR1_uc002oiv.1_Splice_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2343	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			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)	GGTGGCCAGGCGAGAGCGTGG	0.667													T	38990276	C	T	38990276	2	4	281	1	0	0	0	0	0	0	0	1	13768	782	27	1		1	RYR1	19	38990276	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	4094585	38990276	20138707	55	19783											
NLRP12	91662	broad.mit.edu	37	19	54312898	54312898	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:54312898G>A	uc002qcj.4	-	2	2235	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.A672V|NLRP12_uc002qci.4_Missense_Mutation_p.A672V|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.A672V	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	672					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			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)		TTCCCCGTCCGCGCTGTAGGT	0.622													A	54312898	G	A	54312898	3	1	281	1	0	0	0	0	1	0	0	0	10474	1087	38	1	1298	1	NLRP12	19	54312898	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	15322622	54312898	4816085	56	19784											
MYH9	4627	broad.mit.edu	37	22	36714329	36714329	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr22:36714329C>T	uc003apg.3	-	10	1381	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	MYH9_uc003aph.1_Missense_Mutation_p.D248N	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	384	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGGTGAAATCGGTCACATTG	0.502			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				T	36714329	C	T	36714329	3	4	281	1	0	0	0	0	1	0	0	0	10042	884	31	2	4856	2	MYH9	22	36714329	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		36714329	14590237	57	19785											
CELSR1	9620	broad.mit.edu	37	22	46829324	46829324	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr22:46829324C>T	uc003bhw.1	-	4	4577	c.4577G>A	c.(4576-4578)cGg>cAg	p.R1526Q		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1526	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGTGCCACCGCCCGTCACT	0.647													T	46829324	C	T	46829324	3	4	281	1	0	0	0	0	1	0	0	0	3221	652	23	2	4591	2	CELSR1	22	46829324	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	10114995	46829324	4475242	58	19786											
STAG2	10735	broad.mit.edu	37	X	123171416	123171416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chrX:123171416C>T	uc004eua.3	+	5	732	c.328C>T	c.(328-330)Cga>Tga	p.R110*	STAG2_uc004etz.4_Nonsense_Mutation_p.R110*|STAG2_uc004eub.3_Nonsense_Mutation_p.R110*|STAG2_uc004euc.3_Nonsense_Mutation_p.R110*|STAG2_uc004eud.3_Nonsense_Mutation_p.R110*|STAG2_uc004eue.3_Nonsense_Mutation_p.R110*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	110					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAAGCATGACCGAGATATAGC	0.323													T	123171416	C	T	123171416	4	4	281	1	0	0	0	0	0	1	0	0	15242	644	23	2	342	2	STAG2	23	123171416	Nonsense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		123171416	32099144	59	19787											
THAP3	90326	broad.mit.edu	37	1	6692962	6692962	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:6692962T>C	uc001aoc.3	+	5	704	c.545T>C	c.(544-546)cTt>cCt	p.L182P	THAP3_uc001aod.3_Missense_Mutation_p.L181P|THAP3_uc001aoe.2_Intron	NM_001195753	NP_001182682	Q8WTV1	THAP3_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA.	182							DNA binding|metal ion binding	p.L182P(1)		breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|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;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGCTATGCCCTTTTGGACTTA	0.567													C	6692962	T	C	6692962	3	2	282	1	0	0	0	0	1	0	0	0	15842	1624	56	4		4	THAP3	1	6692962	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		6692962	242557659	1	19788											
NOTCH2	4853	broad.mit.edu	37	1	120512286	120512286	+	Missense_Mutation	SNP	T	T	C	rs144936899		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:120512286T>C	uc001eik.3	-	5	1253	c.956A>G	c.(955-957)aAt>aGt	p.N319S	NOTCH2_uc001eil.3_Missense_Mutation_p.N319S|NOTCH2_uc021osy.1_Missense_Mutation_p.N280S|NOTCH2_uc001eim.4_Missense_Mutation_p.N236S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	319	EGF-like 8; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAGCCTCCATTGCGGTTGGC	0.532			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				C	120512286	T	C	120512286	3	2	282	1	0	0	0	0	1	0	0	0	10548	1493	52	4	6575	4	NOTCH2	1	120512286	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08	113819324	120512286	128738335	2	19789											
TCHH	7062	broad.mit.edu	37	1	152081317	152081317	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:152081317C>T	uc009wne.1	-	2	4648	c.4376G>A	c.(4375-4377)cGt>cAt	p.R1459H	TCHH_uc001ezp.2_Missense_Mutation_p.R1459H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1459	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTGACGCTCCTGGCG	0.547													T	152081317	C	T	152081317	3	4	282	1	0	0	0	0	1	0	0	0	15697	536	19	1	1459	1	TCHH	1	152081317	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	31569031	152081317	97169304	3	19790											
SOS1	6654	broad.mit.edu	37	2	39234297	39234297	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:39234297C>A	uc002rrk.4	-	15	2589	c.2548G>T	c.(2548-2550)Gct>Tct	p.A850S	SOS1_uc002rrj.4_Missense_Mutation_p.A464S	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	850	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTCACCACAGCTACTCTTTCT	0.323									Noonan syndrome				A	39234297	C	A	39234297	3	1	282	1	0	0	0	0	1	0	0	0	14936	797	28	5	1485	5	SOS1	2	39234297	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		39234297	203965076	4	19791											
IL1RL2	8808	broad.mit.edu	37	2	102805705	102805705	+	Silent	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:102805705C>T	uc002tbs.3	+	2	354	c.228C>T	c.(226-228)gaC>gaT	p.D76D	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	76	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTCACCAGGACGAGACTTGGA	0.398													T	102805705	C	T	102805705	2	4	282	1	0	0	0	0	0	0	0	1	7664	535	19	1		1	IL1RL2	2	102805705	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08	63571408	102805705	140393668	5	19792											
PLEKHM3	389072	broad.mit.edu	37	2	208842070	208842070	+	Missense_Mutation	SNP	G	G	C			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:208842070G>C	uc002vcl.2	-	2	1341	c.851C>G	c.(850-852)aCt>aGt	p.T284S	PLEKHM3_uc002vcm.2_Missense_Mutation_p.T284S	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	284	PH 1.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTAGCTGAGTGTTGTCATA	0.512													C	208842070	G	C	208842070	3	2	282	1	0	0	0	0	1	0	0	0	12082	1029	36	5	1458	5	PLEKHM3	2	208842070	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08	106036365	208842070	34357303	6	19793											
CNTN6	27255	broad.mit.edu	37	3	1424680	1424680	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr3:1424680C>T	uc003boz.3	+	17	2488	c.2221C>T	c.(2221-2223)Cgg>Tgg	p.R741W	CNTN6_uc011asj.2_Missense_Mutation_p.R669W|CNTN6_uc003bpa.3_Missense_Mutation_p.R741W	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	741	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATCATGTTCCGGCCAGTGGG	0.433													T	1424680	C	T	1424680	3	4	282	1	0	0	0	0	1	0	0	0	3645	643	23	2	2287	2	CNTN6	3	1424680	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		1424680	196597750	7	19794											
FRAS1	80144	broad.mit.edu	37	4	79400817	79400817	+	Silent	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr4:79400817C>T	uc003hlb.2	+	55	8828	c.8388C>T	c.(8386-8388)aaC>aaT	p.N2796N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2791	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			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						GTGGTCCCAACGATGCCTCGA	0.532													T	79400817	C	T	79400817	2	4	282	1	0	0	0	0	0	0	0	1	6042	535	19	1		1	FRAS1	4	79400817	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08		79400817	111753459	8	19795											
SLC10A6	345274	broad.mit.edu	37	4	87749309	87749309	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr4:87749309C>T	uc003hqd.2	-	3	746	c.598G>A	c.(598-600)Gtt>Att	p.V200I		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	200						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACCCCACCAACAACGGCCCCA	0.443													T	87749309	C	T	87749309	3	4	282	1	0	0	0	0	1	0	0	0	14378	478	17	3	547	3	SLC10A6	4	87749309	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	8348492	87749309	103404967	9	19796											
RAMP3	10268	broad.mit.edu	37	7	45216936	45216936	+	Silent	SNP	C	C	T	rs145890722	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:45216936C>T	uc003tnb.3	+	1	148	c.87C>T	c.(85-87)aaC>aaT	p.N29N		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	29					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCGGCTGCAACGAGACAGGCA	0.597													T	45216936	C	T	45216936	2	4	282	1	0	0	0	0	0	0	0	1	13023	535	19	1		1	RAMP3	7	45216936	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08		45216936	113921727	10	19797											
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	282	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	10004886	55221822	103916841	11	19798											
DTX2	113878	broad.mit.edu	37	7	76112453	76112453	+	Silent	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:76112453C>T	uc011kgk.1	+	2	976	c.624C>T	c.(622-624)tcC>tcT	p.S208S	DTX2_uc003uff.4_Silent_p.S299S|DTX2_uc003ufg.4_Silent_p.S299S|DTX2_uc003ufh.4_Silent_p.S299S|DTX2_uc003ufj.4_Silent_p.S299S	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	299					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCTCCACCTCCGGTGCAGTCA	0.662													T	76112453	C	T	76112453	2	4	282	1	0	0	0	0	0	0	0	1	4794	639	23	2		2	DTX2	7	76112453	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08	20890631	76112453	83026210	12	19799											
OR2A2	442361	broad.mit.edu	37	7	143807297	143807297	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:143807297G>A	uc011ktz.2	+	0	622	c.622G>A	c.(622-624)Ggg>Agg	p.G208R		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGTCTTAGTCGGGCCTCTTTC	0.522													A	143807297	G	A	143807297	3	1	282	1	0	0	0	0	1	0	0	0	10977	1116	39	2	624	2	OR2A2	7	143807297	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08	67694844	143807297	15331366	13	19800											
CSMD3	114788	broad.mit.edu	37	8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr8:114290824C>T	uc003ynu.3	-	2	670	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_uc003ynt.3_Missense_Mutation_p.E131K|CSMD3_uc011lhx.2_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	171	CUB 1.					integral to membrane|plasma membrane				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						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	114290824	C	T	114290824	3	4	282	1	0	0	0	0	1	0	0	0	3946	893	31	2	10888	2	CSMD3	8	114290824	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		114290824	32073198	14	19801											
DENND3	22898	broad.mit.edu	37	8	142151330	142151330	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr8:142151330C>T	uc003yvy.3	+	3	568	c.290C>T	c.(289-291)aCg>aTg	p.T97M	DENND3_uc003yvw.1_Missense_Mutation_p.T110M|DENND3_uc003yvx.3_Missense_Mutation_p.R176C|DENND3_uc010mep.3_Missense_Mutation_p.T110M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	97										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AATGGCAAAACGCACCGGGAG	0.532													T	142151330	C	T	142151330	3	4	282	1	0	0	0	0	1	0	0	0	4432	536	19	1	300	1	DENND3	8	142151330	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	27860506	142151330	4212692	15	19802											
PTEN	5728	broad.mit.edu	37	10	89692923	89692923	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr10:89692923G>A	uc001kfb.3	+	4	1439	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C136Y(16)|p.C136F(10)|p.C136R(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*44(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTAATGATATGTGCATATTTA	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692923	G	A	89692923	3	1	282	1	0	0	0	0	1	0	0	0	12738	1377	48	3	425	3	PTEN	10	89692923	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		89692923	45841824	16	19803											
OR4C11	219429	broad.mit.edu	37	11	55371120	55371120	+	Missense_Mutation	SNP	C	C	G			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55371120C>G	uc010rii.2	-	0	755	c.730G>C	c.(730-732)Gta>Cta	p.V244L		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AAGATGACTACAATTATGTGA	0.408													G	55371120	C	G	55371120	3	3	282	1	0	0	0	0	1	0	0	0	11045	478	17	5	204	5	OR4C11	11	55371120	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		55371120	79635396	17	19804											
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55541619C>T	uc010ril.2	+	0	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	236			R -> L (in dbSNP:rs7124871).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G235W(1)|p.R236H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408													T	55541619	C	T	55541619	3	4	282	1	0	0	0	0	1	0	0	0	11154	768	27	1	708	1	OR5D13	11	55541619	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	170499	55541619	79464897	18	19805											
OR5AS1	219447	broad.mit.edu	37	11	55798503	55798503	+	Silent	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55798503C>T	uc010riw.2	+	0	609	c.609C>T	c.(607-609)tgC>tgT	p.C203C		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTGCTTTGTGCAGCTTCATCC	0.423													T	55798503	C	T	55798503	2	4	282	1	0	0	0	0	0	0	0	1	11146	718	25	3		3	OR5AS1	11	55798503	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08	256884	55798503	79208013	19	19806											
FADS2	9415	broad.mit.edu	37	11	61615699	61615699	+	Silent	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:61615699G>A	uc001nsl.1	+	4	837	c.687G>A	c.(685-687)aaG>aaA	p.K229K	FADS2_uc001nsj.2_Silent_p.K207K|FADS2_uc010rlo.1_Silent_p.K198K|FADS2_uc001nsk.3_Silent_p.K229K	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	229					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCTTCCACAAGGATCCCGATG	0.557													A	61615699	G	A	61615699	2	1	282	1	0	0	0	0	0	0	0	1	5366	991	35	3		3	FADS2	11	61615699	Silent	SNP	G	TCGA-81-5911-01A-12D-1845-08	5817196	61615699	73390817	20	19807											
VEGFB	7423	broad.mit.edu	37	11	64004662	64004663	+	Frame_Shift_Ins	INS	-	-	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:64004662_64004663insA	uc001nyw.3	+	4	628_629	c.378_379insA	c.(376-381)cctaaafs	p.P126fs	VEGFB_uc001nyx.3_Frame_Shift_Ins_p.P126fs	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	126					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	p.K129fs*5(2)		endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TTTTCAGACCTAAAAAAAAGGA	0.47													A	64004663	-	A	64004662	7	5	282	1	0	1	1	0	0	0	0	0	17148	1509	53	0	396	0	VEGFB	11	64004662	Frame_Shift_Ins	INS	-	TCGA-81-5911-01A-12D-1845-08	2388963	64004662	71001854	21	19808											
CWF19L2	143884	broad.mit.edu	37	11	107224390	107224390	+	Missense_Mutation	SNP	G	G	A	rs146937549	by1000genomes	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:107224390G>A	uc010rvp.2	-	12	1975	c.1945C>T	c.(1945-1947)Cgt>Tgt	p.R649C	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	649							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCACCAAGACGTTCTCTCTCA	0.403													A	107224390	G	A	107224390	3	1	282	1	0	0	0	0	1	0	0	0	4072	1145	40	1	763	1	CWF19L2	11	107224390	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08	43219728	107224390	27782126	22	19809											
CACNA1C	775	broad.mit.edu	37	12	2795380	2795380	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr12:2795380G>A	uc009zdu.1	+	47	6291	c.5978G>A	c.(5977-5979)cGa>cAa	p.R1993Q	CACNA1C_uc001qkc.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qke.2_Missense_Mutation_p.R1899Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1918Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1951Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1916Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1918Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1958Q|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1945Q|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1970Q|CACNA1C_uc001qko.2_Missense_Mutation_p.R1930Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1938Q|CACNA1C_uc001qku.2_Missense_Mutation_p.R1945Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1927Q|CACNA1C_uc001qks.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1929Q|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1907Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qki.1_Missense_Mutation_p.R1717Q|CACNA1C_uc010sea.1_Missense_Mutation_p.R601Q|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R228Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1993					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			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)	CAGAAGGACCGAGGGGGAGAC	0.582													A	2795380	G	A	2795380	3	1	282	1	0	0	0	0	1	0	0	0	2540	1058	37	2	6616	2	CACNA1C	12	2795380	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		2795380	131056515	23	19810											
RB1	5925	broad.mit.edu	37	13	48934208	48934208	+	Nonsense_Mutation	SNP	T	T	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr13:48934208T>A	uc001vcb.3	+	6	829	c.663T>A	c.(661-663)tgT>tgA	p.C221*	RB1_uc010acs.1_Non-coding_Transcript|RB1_uc010act.1_5'UTR	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	221					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAATGCTATGTGTCCTTGACT	0.313		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	48934208	T	A	48934208	4	1	282	1	0	0	0	0	0	1	0	0	13098	1702	59	5	689	5	RB1	13	48934208	Nonsense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		48934208	66235670	24	19811											
C15orf42	90381	broad.mit.edu	37	15	90161424	90161424	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr15:90161424C>A	uc002boe.3	+	16	3002	c.3002C>A	c.(3001-3003)tCc>tAc	p.S1001Y	C15orf42_uc021sug.1_Missense_Mutation_p.S1000Y	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1001					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTTGAAGAGTCCCCTGAAAAA	0.388													A	90161424	C	A	90161424	3	1	282	1	0	0	0	0	1	0	0	0	1796	855	30	5	3068	5	C15orf42	15	90161424	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		90161424	12369968	25	19812											
ACSM2B	348158	broad.mit.edu	37	16	20554273	20554273	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr16:20554273G>A	uc002dhj.4	-	12	1682	c.1472C>T	c.(1471-1473)aCg>aTg	p.T491M	ACSM2B_uc002dhk.4_Missense_Mutation_p.T491M|ACSM2B_uc010bwf.1_Missense_Mutation_p.T491M	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	491					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.E490A(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GATCACAGCCGTCTCAACCAC	0.557													A	20554273	G	A	20554273	3	1	282	1	0	0	0	0	1	0	0	0	184	1145	40	1	273	1	ACSM2B	16	20554273	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		20554273	69800480	26	19813											
ATP2A3	489	broad.mit.edu	37	17	3851127	3851127	+	Missense_Mutation	SNP	T	T	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:3851127T>A	uc002fwy.2	-	7	826	c.653A>T	c.(652-654)aAa>aTa	p.K218I	ATP2A3_uc002fwz.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxa.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxb.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxc.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxd.2_Missense_Mutation_p.K218I|ATP2A3_uc002fwx.2_Missense_Mutation_p.K218I	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	218					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			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)		ACCCACCGCTTTGCCCGATGT	0.682													A	3851127	T	A	3851127	3	1	282	1	0	0	0	0	1	0	0	0	1138	1841	64	5	2613	5	ATP2A3	17	3851127	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		3851127	77344083	27	19814											
ANKFN1	162282	broad.mit.edu	37	17	54450196	54450196	+	Missense_Mutation	SNP	A	A	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:54450196A>T	uc002iun.1	+	5	835	c.800A>T	c.(799-801)cAt>cTt	p.H267L		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	267										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGCTTTGAGCATGCCAGTGAG	0.433													T	54450196	A	T	54450196	3	4	282	1	0	0	0	0	1	0	0	0	625	217	8	5	822	5	ANKFN1	17	54450196	Missense_Mutation	SNP	A	TCGA-81-5911-01A-12D-1845-08	50599069	54450196	26745014	28	19815											
CYB561	1534	broad.mit.edu	37	17	61514742	61514742	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:61514742C>A	uc002jaq.3	-	1	328	c.305G>T	c.(304-306)tGc>tTc	p.C102F	CYB561_uc002jap.3_Missense_Mutation_p.C56F|CYB561_uc002jar.3_Missense_Mutation_p.C56F|CYB561_uc002jas.3_Missense_Mutation_p.C56F|CYB561_uc010ddt.3_Missense_Mutation_p.C56F|CYB561_uc002jat.3_Missense_Mutation_p.C56F|CYB561_uc010wpf.2_Missense_Mutation_p.C56F|CYB561_uc010wpg.2_Missense_Mutation_p.C27F	NM_001915	NP_001906	P49447	CY561_HUMAN	Homo sapiens cytochrome b-561 (CYB561), transcript variant 1, mRNA.	56	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		TATGACCATGCAGAGGGGGTG	0.647													A	61514742	C	A	61514742	3	1	282	1	0	0	0	0	1	0	0	0	4119	710	25	5	608	5	CYB561	17	61514742	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	7064546	61514742	19680468	29	19816											
FPR2	2358	broad.mit.edu	37	19	52272612	52272612	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:52272612T>C	uc002pxr.3	+	1	746	c.701T>C	c.(700-702)aTt>aCt	p.I234T	FPR2_uc002pxs.4_Missense_Mutation_p.I234T|FPR2_uc010epf.3_Missense_Mutation_p.I234T|FPR2_uc021uyp.1_Missense_Mutation_p.I234T	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	234					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AAGGGCATGATTAAATCCAGC	0.507													C	52272612	T	C	52272612	3	2	282	1	0	0	0	0	1	0	0	0	6039	1493	52	4	703	4	FPR2	19	52272612	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		52272612	6856371	30	19817											
LILRA4	23547	broad.mit.edu	37	19	54848923	54848923	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:54848923C>T	uc002qfj.3	-	4	757	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	LILRA4_uc002qfi.3_Missense_Mutation_p.V168M	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	234	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCGGGGGTCACGACAGGGCCC	0.647													T	54848923	C	T	54848923	3	4	282	1	0	0	0	0	1	0	0	0	8787	536	19	1	815	1	LILRA4	19	54848923	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	2576311	54848923	4280060	31	19818											
LAIR1	3903	broad.mit.edu	37	19	54872745	54872745	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:54872745C>T	uc002qfk.1	-	2	452	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	LAIR1_uc002qfl.1_Missense_Mutation_p.V48M|LAIR1_uc002qfm.1_Missense_Mutation_p.V47M|LAIR1_uc002qfn.1_Missense_Mutation_p.V47M|LAIR1_uc010yex.2_Missense_Mutation_p.V41M|LAIR1_uc002qfo.3_Missense_Mutation_p.V30M	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	48	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity	p.V48L(2)|p.V48M(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCCCGGCACACGAAAGTCACA	0.567													T	54872745	C	T	54872745	3	4	282	1	0	0	0	0	1	0	0	0	8602	536	19	1	753	1	LAIR1	19	54872745	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	23822	54872745	4256238	32	19819											
SIGLEC1	6614	broad.mit.edu	37	20	3682241	3682241	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr20:3682241C>T	uc002wja.3	-	5	1276	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	SIGLEC1_uc002wiz.4_Missense_Mutation_p.G426R	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	426	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCACAAGTCCCGCCTGGGTC	0.632													T	3682241	C	T	3682241	3	4	282	1	0	0	0	0	1	0	0	0	14305	632	22	3	3917	3	SIGLEC1	20	3682241	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		3682241	59343279	33	19820											
DNAJC28	54943	broad.mit.edu	37	21	34861310	34861310	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr21:34861310G>A	uc021wim.1	-	0	391	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	DNAJC28_uc002yrv.3_Missense_Mutation_p.P131S|DNAJC28_uc002yrw.3_Missense_Mutation_p.P131S	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	131							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CGGTGTTGGGGTGTTTTATAT	0.393													A	34861310	G	A	34861310	3	1	282	1	0	0	0	0	1	0	0	0	4646	1261	44	3	779	3	DNAJC28	21	34861310	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		34861310	13268585	34	19821											
TEX13B	56156	broad.mit.edu	37	X	107224904	107224904	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chrX:107224904G>A	uc004enn.1	-	1	547	c.454C>T	c.(454-456)Cat>Tat	p.H152Y		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	152								p.H152N(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CTTACGGCATGGAAGAGCTTC	0.597													A	107224904	G	A	107224904	3	1	282	1	0	0	0	0	1	0	0	0	15774	1348	47	3	492	3	TEX13B	23	107224904	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		107224904	48045656	35	19822											
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													-	150817144	GCT	-	150817142	7	5	282	1	0	1	0	1	0	0	0	0	11471	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-81-5911-01A-12D-1845-08	43592238	150817142	4453418	36	19823											
KTI12	112970	broad.mit.edu	37	1	52498511	52498511	+	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:52498511C>T	uc001ctj.1	-	0	962	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	TXNDC12_uc001cti.3_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.	308							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CCGGGTAAACCGCAAGTGCTC	0.552													T	52498511	C	T	52498511	3	4	283	1	0	0	0	0	1	0	0	0	8584	652	23	2	145	2	KTI12	1	52498511	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08		52498511	196752110	1	19824											
CACHD1	57685	broad.mit.edu	37	1	65141094	65141094	+	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:65141094C>T	uc001dbo.1	+	19	2690	c.2585C>T	c.(2584-2586)aCg>aTg	p.T862M	CACHD1_uc001dbp.1_Missense_Mutation_p.T617M|CACHD1_uc001dbq.1_Missense_Mutation_p.T617M|CACHD1_uc010opa.1_Missense_Mutation_p.T106M	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	913					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGGATTTGACGAACCTTGTG	0.463											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65141094	C	T	65141094	3	4	283	1	0	0	0	0	1	0	0	0	2537	536	19	1	2663	1	CACHD1	1	65141094	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	12642583	65141094	184109527	2	19825											
RPF1	80135	broad.mit.edu	37	1	84961638	84961638	+	Nonsense_Mutation	SNP	C	C	G			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:84961638C>G	uc001djv.4	+	6	818	c.773C>G	c.(772-774)tCa>tGa	p.S258*		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	258	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						CTGGGTCATTCAATTGGACGT	0.373													G	84961638	C	G	84961638	4	3	283	1	0	0	0	0	0	1	0	0	13546	838	29	5	799	5	RPF1	1	84961638	Nonsense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	19820544	84961638	164288983	3	19826											
ODF2L	57489	broad.mit.edu	37	1	86851250	86851250	+	Missense_Mutation	SNP	T	T	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:86851250T>A	uc001dll.2	-	2	499	c.137A>T	c.(136-138)gAa>gTa	p.E46V	ODF2L_uc001dlp.3_Missense_Mutation_p.E46V|ODF2L_uc010osg.2_Missense_Mutation_p.E46V|ODF2L_uc001dlm.2_Missense_Mutation_p.E46V|ODF2L_uc021opg.1_Intron|ODF2L_uc001dlq.2_Intron|ODF2L_uc009wcr.2_Intron	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	46						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTCAGTCTTTTCATTTAGAAT	0.343													A	86851250	T	A	86851250	3	1	283	1	0	0	0	0	1	0	0	0	10828	1783	62	5	2013	5	ODF2L	1	86851250	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	1889612	86851250	162399371	4	19827											
S100A7L2	645922	broad.mit.edu	37	1	153409549	153409549	+	Silent	SNP	G	G	A	rs140750285		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:153409549G>A	uc010pdx.2	-	2	402	c.324C>T	c.(322-324)tcC>tcT	p.S108S		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTTCCCCCGGAACAGGGTG	0.488													A	153409549	G	A	153409549	2	1	283	1	0	0	0	0	0	0	0	1	13785	1103	39	2		2	S100A7L2	1	153409549	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	66558299	153409549	95841072	5	19828											
ZP4	57829	broad.mit.edu	37	1	238048511	238048511	+	Missense_Mutation	SNP	A	A	C			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:238048511A>C	uc001hym.3	-	8	1552	c.1265T>G	c.(1264-1266)tTc>tGc	p.F422C	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	422	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)			CACAAAGCTGAAGGTGAAGAT	0.537													C	238048511	A	C	238048511	3	2	283	1	0	0	0	0	1	0	0	0	18215	246	9	5	373	5	ZP4	1	238048511	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	84638962	238048511	11202110	6	19829											
OR2G6	391211	broad.mit.edu	37	1	248685273	248685273	+	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:248685273C>T	uc001ien.1	+	0	326	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S109L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTTGGGCTCGTCTGAGTGT	0.547													T	248685273	C	T	248685273	3	4	283	1	0	0	0	0	1	0	0	0	11000	893	31	2	328	2	OR2G6	1	248685273	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	10636762	248685273	565348	7	19830											
MAP4K4	9448	broad.mit.edu	37	2	102440436	102440436	+	Missense_Mutation	SNP	A	A	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr2:102440436A>T	uc002tbc.3	+	3	605	c.227A>T	c.(226-228)tAc>tTc	p.Y76F	MAP4K4_uc002tbf.3_Missense_Mutation_p.Y76F|MAP4K4_uc002tbd.3_Missense_Mutation_p.Y76F|MAP4K4_uc010yvy.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbh.3_Missense_Mutation_p.Y76F|MAP4K4_uc002tbg.3_Missense_Mutation_p.Y76F|MAP4K4_uc002tbi.3_Missense_Mutation_p.Y76F|MAP4K4_uc010yvz.2_Missense_Mutation_p.Y56F|MAP4K4_uc010fiw.1_Intron|MAP4K4_uc002tbj.1_5'Flank	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	76	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTAAAGAAATACTCTCATCAC	0.368													T	102440436	A	T	102440436	3	4	283	1	0	0	0	0	1	0	0	0	9262	391	14	5	241	5	MAP4K4	2	102440436	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08		102440436	140758937	8	19831											
ST6GAL2	84620	broad.mit.edu	37	2	107460197	107460197	+	Silent	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr2:107460197C>T	uc002tdq.3	-	1	356	c.237G>A	c.(235-237)gcG>gcA	p.A79A	ST6GAL2_uc002tdr.3_Silent_p.A79A|ST6GAL2_uc002tds.3_Silent_p.A79A	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	79					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.A79A(2)|p.A79V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCGGGGCAGCGCCTGGCGTG	0.657													T	107460197	C	T	107460197	2	4	283	1	0	0	0	0	0	0	0	1	15221	755	27	1		1	ST6GAL2	2	107460197	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	5019761	107460197	135739176	9	19832											
GPR149	344758	broad.mit.edu	37	3	154139085	154139085	+	Missense_Mutation	SNP	T	T	C			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr3:154139085T>C	uc003faa.3	-	2	1466	c.1366A>G	c.(1366-1368)Atc>Gtc	p.I456V		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	456						integral to membrane|plasma membrane	G-protein coupled receptor activity			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)			GTGGTGCTGATTTCTACTTTT	0.393													C	154139085	T	C	154139085	3	2	283	1	0	0	0	0	1	0	0	0	6654	1493	52	4	837	4	GPR149	3	154139085	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		154139085	43883345	10	19833											
TNIK	23043	broad.mit.edu	37	3	170800078	170800078	+	Missense_Mutation	SNP	T	T	G			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr3:170800078T>G	uc003fhh.2	-	26	3620	c.3275A>C	c.(3274-3276)gAt>gCt	p.D1092A	TNIK_uc003fhi.2_Missense_Mutation_p.D1037A|TNIK_uc003fhj.2_Missense_Mutation_p.D1063A|TNIK_uc003fhk.2_Missense_Mutation_p.D1084A|TNIK_uc003fhl.2_Missense_Mutation_p.D1008A|TNIK_uc003fhm.2_Missense_Mutation_p.D1029A|TNIK_uc003fhn.2_Missense_Mutation_p.D1055A|TNIK_uc003fho.2_Missense_Mutation_p.D1000A|TNIK_uc003fhg.2_Missense_Mutation_p.D270A|TNIK_uc003fhp.3_Missense_Mutation_p.D24A	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1092	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTCTAGCACATCCATCTGCTG	0.483													G	170800078	T	G	170800078	3	3	283	1	0	0	0	0	1	0	0	0	16310	1435	50	5	835	5	TNIK	3	170800078	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	16660993	170800078	27222352	11	19834											
FYB	2533	broad.mit.edu	37	5	39153687	39153687	+	Silent	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr5:39153687C>T	uc003jls.3	-	1	1222	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	FYB_uc003jlt.3_Silent_p.T385T|FYB_uc003jlu.3_Silent_p.T385T|FYB_uc011cpl.2_Silent_p.T395T	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	385	Interaction with SKAP1.				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			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)			TTGAGTAAGACGTCTGGCCTT	0.468													T	39153687	C	T	39153687	2	4	283	1	0	0	0	0	0	0	0	1	6124	523	19	1		1	FYB	5	39153687	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08		39153687	141761573	12	19835											
IQGAP2	10788	broad.mit.edu	37	5	75998408	75998408	+	Missense_Mutation	SNP	A	A	G			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr5:75998408A>G	uc003kek.3	+	34	4829	c.4607A>G	c.(4606-4608)aAt>aGt	p.N1536S	IQGAP2_uc011csv.2_Missense_Mutation_p.N1032S|IQGAP2_uc003kel.3_Missense_Mutation_p.N1032S	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1536					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTGCAACTCAATATTCAGGTA	0.353													G	75998408	A	G	75998408	3	3	283	1	0	0	0	0	1	0	0	0	7815	101	4	4	4745	4	IQGAP2	5	75998408	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	36844721	75998408	104916852	13	19836											
CEP120	153241	broad.mit.edu	37	5	122754205	122754205	+	Silent	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr5:122754205C>T	uc003ktk.3	-	2	170	c.54G>A	c.(52-54)cgG>cgA	p.R18R	CEP120_uc010jcz.2_5'UTR|CEP120_uc011cwq.2_5'UTR	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	18						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TGGGGAAATGCCGACCTGGAG	0.383													T	122754205	C	T	122754205	2	4	283	1	0	0	0	0	0	0	0	1	3246	726	26	3		3	CEP120	5	122754205	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	46755797	122754205	58161055	14	19837											
DSP	1832	broad.mit.edu	37	6	7565623	7565623	+	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:7565623G>A	uc003mxp.1	+	6	1088	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	DSP_uc003mxq.1_Missense_Mutation_p.R270Q|DSP_uc021yle.1_Missense_Mutation_p.R270Q	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	270	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATCACCTGCGACAGCTGCAG	0.502													A	7565623	G	A	7565623	3	1	283	1	0	0	0	0	1	0	0	0	4781	1058	37	2	835	2	DSP	6	7565623	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		7565623	163549444	15	19838											
DNAH8	1769	broad.mit.edu	37	6	38957817	38957817	+	Silent	SNP	G	G	A	rs143472136	byFrequency	TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	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													A	38957817	G	A	38957817	2	1	283	1	0	0	0	0	0	0	0	1	4607	1132	40	1		1	DNAH8	6	38957817	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	31392194	38957817	132157250	16	19839											
GSTA1	2938	broad.mit.edu	37	6	52658945	52658945	+	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:52658945C>T	uc003paz.3	-	4	504	c.392G>A	c.(391-393)cGc>cAc	p.R131H	GSTA1_uc021zan.1_Missense_Mutation_p.R131H	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	131	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	AGGGAAGTAGCGATTTTTTAT	0.438													T	52658945	C	T	52658945	3	4	283	1	0	0	0	0	1	0	0	0	6830	768	27	1	288	1	GSTA1	6	52658945	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	13701128	52658945	118456122	17	19840											
AKD1	221264	broad.mit.edu	37	6	109827537	109827537	+	Missense_Mutation	SNP	T	T	C			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:109827537T>C	uc003ptn.2	-	34	4919	c.4842A>G	c.(4840-4842)atA>atG	p.I1614M	AKD1_uc011eas.1_Missense_Mutation_p.I13M	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1614					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TACCTGCTTTTATTCTTTCCA	0.323													C	109827537	T	C	109827537	3	2	283	1	0	0	0	0	1	0	0	0	460	1744	61	4	921	4	AKD1	6	109827537	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	57168592	109827537	61287530	18	19841											
MIOS	54468	broad.mit.edu	37	7	7612689	7612689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:7612689C>T	uc003srf.3	+	3	891	c.583C>T	c.(583-585)Cga>Tga	p.R195*	MIOS_uc010ktp.1_Nonsense_Mutation_p.R195*	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	195										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGCTTCCACGAGACCAGAA	0.383													T	7612689	C	T	7612689	4	4	283	1	0	0	0	0	0	1	0	0	9589	528	19	1	585	1	MIOS	7	7612689	Nonsense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08		7612689	151525974	19	19842											
ABCA13	154664	broad.mit.edu	37	7	48450229	48450229	+	Silent	SNP	G	G	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:48450229G>T	uc003toq.2	+	39	12207	c.12183G>T	c.(12181-12183)ctG>ctT	p.L4061L	ABCA13_uc010kys.1_Silent_p.L1135L|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4061	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.T4060S(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						CCTTCTGCCTGAAGGAGGCAT	0.582													T	48450229	G	T	48450229	2	4	283	1	0	0	0	0	0	0	0	1	31	1277	45	5		5	ABCA13	7	48450229	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	40837540	48450229	110688434	20	19843											
POM121L12	285877	broad.mit.edu	37	7	53104048	53104048	+	Silent	SNP	C	C	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:53104048C>A	uc003tpz.3	+	0	700	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	228								p.A227S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGTTGCTTCCTTCGTGCCCA	0.637													A	53104048	C	A	53104048	2	1	283	1	0	0	0	0	0	0	0	1	12241	668	24	5		5	POM121L12	7	53104048	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	4653819	53104048	106034615	21	19844											
NSUN5	55695	broad.mit.edu	37	7	72717906	72717906	+	Silent	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:72717906G>A	uc003txw.3	-	7	1139	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.L354L|NSUN5_uc003txv.3_Silent_p.L354L|NSUN5_uc003txx.3_Silent_p.L316L	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	354							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGGAGTAGACGAGCCGCTGCA	0.677													A	72717906	G	A	72717906	2	1	283	1	0	0	0	0	0	0	0	1	10681	1045	37	2		2	NSUN5	7	72717906	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	19613858	72717906	86420757	22	19845											
EPHB6	2051	broad.mit.edu	37	7	142566033	142566033	+	Silent	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:142566033C>T	uc011kst.2	+	13	2740	c.1953C>T	c.(1951-1953)taC>taT	p.Y651Y	EPHB6_uc011ksu.2_Silent_p.Y651Y|EPHB6_uc003wbs.3_Silent_p.Y359Y|EPHB6_uc003wbt.3_Silent_p.Y125Y|EPHB6_uc003wbu.3_Silent_p.Y359Y|EPHB6_uc003wbv.3_Silent_p.Y35Y	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	651						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTCCACCTACGAGGACCCCT	0.577													T	142566033	C	T	142566033	2	4	283	1	0	0	0	0	0	0	0	1	5178	547	19	1		1	EPHB6	7	142566033	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	69848127	142566033	16572630	23	19846											
FAM110B	90362	broad.mit.edu	37	8	59059474	59059474	+	Missense_Mutation	SNP	A	A	C	rs139483735		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr8:59059474A>C	uc022auu.1	+	0	685	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q	FAM110B_uc003xtj.1_Missense_Mutation_p.K229Q	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	229						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCCCAAGCCCAAAATCGCAGC	0.632													C	59059474	A	C	59059474	3	2	283	1	0	0	0	0	1	0	0	0	5397	131	5	5	687	5	FAM110B	8	59059474	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08		59059474	87304548	24	19847											
MYBL1	4603	broad.mit.edu	37	8	67507922	67507922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr8:67507922G>A	uc003xwj.3	-	5	990	c.583C>T	c.(583-585)Caa>Taa	p.Q195*	MYBL1_uc003xwl.3_Nonsense_Mutation_p.Q195*|MYBL1_uc003xwk.3_Nonsense_Mutation_p.Q195*	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	195					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATTCCATCTTGTAAATAGCCC	0.343													A	67507922	G	A	67507922	4	1	283	1	0	0	0	0	0	1	0	0	10009	1386	48	3	1719	3	MYBL1	8	67507922	Nonsense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	8448448	67507922	78856100	25	19848											
NOL8	55035	broad.mit.edu	37	9	95077750	95077750	+	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr9:95077750G>A	uc022bjx.1	-	6	1494	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.A318V	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	386					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTTTTTCATCGCAATAATTTC	0.323													A	95077750	G	A	95077750	3	1	283	1	0	0	0	0	1	0	0	0	10527	1087	38	1	2390	1	NOL8	9	95077750	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		95077750	46135681	26	19849											
PALM2-AKAP2	445815	broad.mit.edu	37	9	112687347	112687347	+	Missense_Mutation	SNP	T	T	C			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr9:112687347T>C	uc004bei.2	+	4	571	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.S129P|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding	p.S127Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ACAGGGTTTCTCCAGTACGGA	0.463													C	112687347	T	C	112687347	3	2	283	1	0	0	0	0	1	0	0	0	11410	1551	54	4	397	4	PALM2-AKAP2	9	112687347	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	17609597	112687347	28526084	27	19850											
CEL	1056	broad.mit.edu	37	9	135945919	135945919	+	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr9:135945919C>T	uc010naa.1	+	9	1383	c.1367C>T	c.(1366-1368)gCc>gTc	p.A456V		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	453					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGGTGGGGGCCGACCATGCA	0.607													T	135945919	C	T	135945919	3	4	283	1	0	0	0	0	1	0	0	0	3209	739	26	3	1405	3	CEL	9	135945919	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	23258572	135945919	5267512	28	19851											
ZNF37A	7587	broad.mit.edu	37	10	38407548	38407548	+	Missense_Mutation	SNP	T	T	C			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr10:38407548T>C	uc001izk.3	+	7	2299	c.1469T>C	c.(1468-1470)aTa>aCa	p.I490T	ZNF37A_uc001izl.3_Missense_Mutation_p.I490T|ZNF37A_uc001izm.3_Missense_Mutation_p.I490T	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	490						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAACTCATATAAGACAGAAA	0.413													C	38407548	T	C	38407548	3	2	283	1	0	0	0	0	1	0	0	0	17869	1406	49	4	1483	4	ZNF37A	10	38407548	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		38407548	97127199	29	19852											
PGR	5241	broad.mit.edu	37	11	100999671	100999671	+	Missense_Mutation	SNP	G	G	T	rs141862537		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr11:100999671G>T	uc001pgh.2	-	0	874	c.131C>A	c.(130-132)aCc>aAc	p.T44N	PGR_uc001pgi.2_Missense_Mutation_p.T44N|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	44	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTCAGGCAAGGTGTCCGAGGT	0.692													T	100999671	G	T	100999671	3	4	283	1	0	0	0	0	1	0	0	0	11805	1261	44	5	2702	5	PGR	11	100999671	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		100999671	34006845	30	19853											
COL2A1	1280	broad.mit.edu	37	12	48371798	48371798	+	Nonsense_Mutation	SNP	G	G	A	rs145684327		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr12:48371798G>A	uc001rqu.3	-	43	3287	c.3106C>T	c.(3106-3108)Cga>Tga	p.R1036*	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Nonsense_Mutation_p.R967*	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1036	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCACCTCTCGTCCAGGTTCA	0.662													A	48371798	G	A	48371798	4	1	283	1	0	0	0	0	0	1	0	0	3687	1153	40	1	1401	1	COL2A1	12	48371798	Nonsense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		48371798	85480097	31	19854											
GLT8D2	83468	broad.mit.edu	37	12	104390580	104390580	+	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr12:104390580G>A	uc001tkh.1	-	7	1090	c.533C>T	c.(532-534)gCg>gTg	p.A178V	GLT8D2_uc001tki.1_Missense_Mutation_p.A178V	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	178						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAAAGCCGCCGCGTGGCCCAG	0.483													A	104390580	G	A	104390580	3	1	283	1	0	0	0	0	1	0	0	0	6470	1087	38	1	532	1	GLT8D2	12	104390580	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	56018782	104390580	29461315	32	19855											
CUX2	23316	broad.mit.edu	37	12	111772341	111772341	+	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr12:111772341G>A	uc001tsa.2	+	18	3177	c.3023G>A	c.(3022-3024)aGc>aAc	p.S1008N		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1008						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E1007D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCCTGGAGAGCAGCAAGGAG	0.647													A	111772341	G	A	111772341	3	1	283	1	0	0	0	0	1	0	0	0	4065	971	34	3	3097	3	CUX2	12	111772341	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	7381761	111772341	22079554	33	19856											
ABCC4	10257	broad.mit.edu	37	13	95705392	95705392	+	Missense_Mutation	SNP	A	A	C			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr13:95705392A>C	uc001vmd.4	-	26	3532	c.3413T>G	c.(3412-3414)tTt>tGt	p.F1138C	ABCC4_uc010afj.3_Missense_Mutation_p.F22C|ABCC4_uc010afk.3_Missense_Mutation_p.F1091C	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1138	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTGCTCATTAAAGGGATCCAG	0.373													C	95705392	A	C	95705392	3	2	283	1	0	0	0	0	1	0	0	0	55	14	1	5	584	5	ABCC4	13	95705392	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08		95705392	19464486	34	19857											
TEP1	7011	broad.mit.edu	37	14	20846241	20846241	+	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr14:20846241G>A	uc001vxe.3	-	38	5703	c.5663C>T	c.(5662-5664)gCt>gTt	p.A1888V	TEP1_uc010ahk.3_Missense_Mutation_p.A1231V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.A1780V|TEP1_uc010tlh.1_Missense_Mutation_p.A226V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1888					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			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)		AAGCGCAGCAGCAACAAAGCC	0.632													A	20846241	G	A	20846241	3	1	283	1	0	0	0	0	1	0	0	0	15756	971	34	3	2288	3	TEP1	14	20846241	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		20846241	86503299	35	19858											
MGAT2	4247	broad.mit.edu	37	14	50089072	50089072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr14:50089072G>A	uc001wwr.3	+	0	1584	c.1086G>A	c.(1084-1086)tgG>tgA	p.W362*	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	362					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CAAAATTCTGGAAAGTGCTGG	0.423													A	50089072	G	A	50089072	4	1	283	1	0	0	0	0	0	1	0	0	9543	1183	41	3	1088	3	MGAT2	14	50089072	Nonsense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	29242831	50089072	57260468	36	19859											
UBR1	197131	broad.mit.edu	37	15	43269028	43269028	+	Missense_Mutation	SNP	T	T	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:43269028T>A	uc001zqq.3	-	38	4322	c.4256A>T	c.(4255-4257)gAt>gTt	p.D1419V		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1419					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AACAGGGTCATCCCAATACAA	0.388													A	43269028	T	A	43269028	3	1	283	1	0	0	0	0	1	0	0	0	16898	1435	50	5	1029	5	UBR1	15	43269028	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		43269028	59262364	37	19860											
EDC3	80153	broad.mit.edu	37	15	74925078	74925078	+	Missense_Mutation	SNP	C	C	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:74925078C>A	uc002ayn.3	-	9	1890	c.1402G>T	c.(1402-1404)Ggg>Tgg	p.G468W	EDC3_uc002ayo.3_Missense_Mutation_p.G468W|EDC3_uc002aym.3_Missense_Mutation_p.G468W	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	468	YjeF N-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCGTGCTCCCCCAGTGGCAGA	0.577											OREG0023286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74925078	C	A	74925078	3	1	283	1	0	0	0	0	1	0	0	0	4907	623	22	5	128	5	EDC3	15	74925078	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	31656050	74925078	27606314	38	19861											
CSPG4	1464	broad.mit.edu	37	15	75980829	75980829	+	Nonsense_Mutation	SNP	A	A	C			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:75980829A>C	uc002baw.3	-	2	2670	c.2577T>G	c.(2575-2577)taT>taG	p.Y859*		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	859	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (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			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTGTGGCCCCATAGGTCACCC	0.577													C	75980829	A	C	75980829	4	2	283	1	0	0	0	0	0	1	0	0	3960	224	8	5	4423	5	CSPG4	15	75980829	Nonsense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	1055751	75980829	26550563	39	19862											
C15orf42	90381	broad.mit.edu	37	15	90142688	90142688	+	Silent	SNP	A	A	G			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:90142688A>G	uc002boe.3	+	7	2034	c.2034A>G	c.(2032-2034)aaA>aaG	p.K678K	C15orf42_uc021sug.1_Silent_p.K677K	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	678					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TAAAATCAAAAGGCACCAAGG	0.408													G	90142688	A	G	90142688	2	3	283	1	0	0	0	0	0	0	0	1	1796	69	3	4		4	C15orf42	15	90142688	Silent	SNP	A	TCGA-87-5896-01A-01D-1696-08	14161859	90142688	12388704	40	19863											
SPG7	6687	broad.mit.edu	37	16	89598461	89598461	+	Silent	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr16:89598461G>A	uc002fnj.3	+	7	1158	c.1137G>A	c.(1135-1137)gtG>gtA	p.V379V	SPG7_uc002fni.3_Silent_p.V379V	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	379					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CAGAGTTCGTGGAGGTCATTG	0.647													A	89598461	G	A	89598461	2	1	283	1	0	0	0	0	0	0	0	1	15043	1335	47	3		3	SPG7	16	89598461	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08		89598461	756292	41	19864											
CCL2	6347	broad.mit.edu	37	17	32583358	32583358	+	Missense_Mutation	SNP	T	T	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:32583358T>A	uc002hhy.3	+	2	267	c.194_splice	c.e2+1	p.I65_splice		NM_002982	NP_002973	P13500	CCL2_HUMAN	Homo sapiens chemokine (C-C motif) ligand 2 (CCL2), mRNA.	65					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	GAAGCTGTGATGTGAGTTCAG	0.478													A	32583358	T	A	32583358	3	1	283	1	0	0	0	0	1	0	0	0	2891	1478	51	5	200	5	CCL2	17	32583358	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		32583358	48611852	42	19865											
TNS4	84951	broad.mit.edu	37	17	38641225	38641225	+	Silent	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:38641225G>A	uc010cxb.3	-	4	1487	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	441					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TGTCCATCACGAACTTCATGG	0.547													A	38641225	G	A	38641225	2	1	283	1	0	0	0	0	0	0	0	1	16342	1049	37	2		2	TNS4	17	38641225	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	6057867	38641225	42553985	43	19866											
KRT39	390792	broad.mit.edu	37	17	39116597	39116597	+	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:39116597C>T	uc002hvo.1	-	5	1189	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I	KRT39_uc010wfm.1_Missense_Mutation_p.V118I	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	385	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.V385F(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CGGGACTTGACGTCCAGCAGG	0.493													T	39116597	C	T	39116597	3	4	283	1	0	0	0	0	1	0	0	0	8476	536	19	1	330	1	KRT39	17	39116597	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	475372	39116597	42078613	44	19867											
SGCA	6442	broad.mit.edu	37	17	48246591	48246591	+	Silent	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:48246591C>T	uc002iqi.3	+	5	759	c.723C>T	c.(721-723)cgC>cgT	p.R241R	SGCA_uc010wmh.1_Silent_p.R139R|SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Non-coding_Transcript|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	241					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCCACTTCCGCGTTGACTGGT	0.662											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48246591	C	T	48246591	2	4	283	1	0	0	0	0	0	0	0	1	14199	755	27	1		1	SGCA	17	48246591	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	9129994	48246591	32948619	45	19868											
EPX	8288	broad.mit.edu	37	17	56277732	56277732	+	Nonsense_Mutation	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:56277732C>T	uc002ivq.3	+	9	1803	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	562					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAACATGCAACGAAGCCGGGA	0.617											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56277732	C	T	56277732	4	4	283	1	0	0	0	0	0	1	0	0	5200	528	19	1	1722	1	EPX	17	56277732	Nonsense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	8031141	56277732	24917478	46	19869											
ENPP7	339221	broad.mit.edu	37	17	77711814	77711814	+	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:77711814G>A	uc002jxa.3	+	4	1366	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	449					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACTGCTGGGGACCGTGATT	0.632													A	77711814	G	A	77711814	3	1	283	1	0	0	0	0	1	0	0	0	5135	1232	43	3	1364	3	ENPP7	17	77711814	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	21434082	77711814	3483396	47	19870											
LAMA1	284217	broad.mit.edu	37	18	6977852	6977852	+	Silent	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr18:6977852G>A	uc002knm.3	-	43	6313	c.6219C>T	c.(6217-6219)gaC>gaT	p.D2073D	LAMA1_uc010wzj.2_Silent_p.D1549D	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2073	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAATTTCCACGTCTTTGACTT	0.398													A	6977852	G	A	6977852	2	1	283	1	0	0	0	0	0	0	0	1	8605	1136	40	1		1	LAMA1	18	6977852	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08		6977852	71099396	48	19871											
POTEC	388468	broad.mit.edu	37	18	14542921	14542921	+	Silent	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr18:14542921G>A	uc010dln.3	-	0	679	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	75								p.S75S(2)|p.S75R(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567													A	14542921	G	A	14542921	2	1	283	1	0	0	0	0	0	0	0	1	12262	1078	38	1		1	POTEC	18	14542921	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	7565069	14542921	63534327	49	19872											
SERPINB11	89778	broad.mit.edu	37	18	61387390	61387390	+	Splice_Site	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr18:61387390G>A	uc002ljk.4	+	7	786	c.615_splice	c.e7+1	p.E205_splice	SERPINB11_uc010xes.2_Splice_Site_p.E31_splice|SERPINB11_uc010dqd.3_Splice_Site_p.E92_splice|SERPINB11_uc002ljj.4_Splice_Site_p.E92_splice|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	206					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GCTAAGTGAGGTAAGTATTTT	0.313													A	61387390	G	A	61387390	5	1	283	1	0	0	0	0	0	0	1	0	14098	1275	44	3	637	3	SERPINB11	18	61387390	Splice_Site	SNP	G	TCGA-87-5896-01A-01D-1696-08	46844469	61387390	16689858	50	19873											
PTPRS	5802	broad.mit.edu	37	19	5273496	5273496	+	Silent	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:5273496C>T	uc002mbv.3	-	3	570	c.336G>A	c.(334-336)tcG>tcA	p.S112S	PTPRS_uc002mbu.1_Silent_p.S112S|PTPRS_uc010xin.2_Silent_p.S112S|PTPRS_uc002mbw.3_Silent_p.S112S|PTPRS_uc002mbx.3_Silent_p.S112S|PTPRS_uc002mby.3_Silent_p.S112S|PTPRS_uc002mbz.1_Silent_p.S112S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	112	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCTCCCCAACCGAGTTCTGGG	0.587													T	5273496	C	T	5273496	2	4	283	1	0	0	0	0	0	0	0	1	12811	639	23	2		2	PTPRS	19	5273496	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08		5273496	53855487	51	19874											
KRTDAP	388533	broad.mit.edu	37	19	35979579	35979579	+	Silent	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:35979579G>A	uc002nzh.3	-	2	242	c.153C>T	c.(151-153)atC>atT	p.I51I	KRTDAP_uc021uso.1_Intron	NM_207392	NP_997275	P60985	KTDAP_HUMAN	Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA.	51					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	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)			GCAATTTGTCGATGTTCAGGA	0.512													A	35979579	G	A	35979579	2	1	283	1	0	0	0	0	0	0	0	1	8580	1048	37	2		2	KRTDAP	19	35979579	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	30706083	35979579	23149404	52	19875											
SIPA1L3	23094	broad.mit.edu	37	19	38621245	38621245	+	Silent	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:38621245C>T	uc002ohk.3	+	9	3485	c.2976C>T	c.(2974-2976)gaC>gaT	p.D992D		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	992	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			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)			AGGTTGAGGACTATGGGTTCG	0.662													T	38621245	C	T	38621245	2	4	283	1	0	0	0	0	0	0	0	1	14331	564	20	3		3	SIPA1L3	19	38621245	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	2641666	38621245	20507738	53	19876											
LTBP4	8425	broad.mit.edu	37	19	41133127	41133127	+	Silent	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:41133127C>T	uc002ooh.1	+	31	4431	c.4431C>T	c.(4429-4431)gaC>gaT	p.D1477D	LTBP4_uc002oog.1_Silent_p.D1440D|LTBP4_uc002ooi.1_Silent_p.D1410D|LTBP4_uc002ooj.1_Silent_p.D351D|LTBP4_uc002ook.1_Silent_p.D612D|LTBP4_uc002ool.1_Silent_p.D490D|LTBP4_uc010xvp.1_Silent_p.D238D	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1478	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTTTGAGGACGATGGTGGCC	0.701													T	41133127	C	T	41133127	2	4	283	1	0	0	0	0	0	0	0	1	9076	535	19	1		1	LTBP4	19	41133127	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	2511882	41133127	17995856	54	19877											
CEACAM3	1084	broad.mit.edu	37	19	42301582	42301582	+	Silent	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:42301582G>A	uc002orn.1	+	1	202	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CEACAM3_uc010eia.1_Silent_p.P42P|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	42	Ig-like V-type.					integral to membrane		p.P42P(2)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATCCATGCCGCTCAGTGTCG	0.522													A	42301582	G	A	42301582	2	1	283	1	0	0	0	0	0	0	0	1	3193	1074	38	1		1	CEACAM3	19	42301582	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	1168455	42301582	16827401	55	19878											
PSG3	5669	broad.mit.edu	37	19	43383725	43383725	+	Silent	SNP	G	G	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:43383725G>T	uc002ovd.1	-	0	147	c.9C>A	c.(7-9)acC>acA	p.T3T	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.T3T|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.T3T|PSG3_uc002ova.2_Silent_p.T3T|PSG3_uc002ouz.2_Silent_p.T3T|PSG3_uc002ovb.3_Silent_p.T3T	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	3					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGGCTGAGAGGGTTCCCATGG	0.572													T	43383725	G	T	43383725	2	4	283	1	0	0	0	0	0	0	0	1	12656	1219	43	5		5	PSG3	19	43383725	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	1082143	43383725	15745258	56	19879											
MAP7D2	256714	broad.mit.edu	37	X	20074865	20074865	+	Silent	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:20074865C>T	uc010nfo.2	-	3	534	c.417G>A	c.(415-417)caG>caA	p.Q139Q	MAP7D2_uc004czq.2_Silent_p.Q10Q|MAP7D2_uc011mji.2_Silent_p.Q95Q|MAP7D2_uc004czr.2_Silent_p.Q139Q|MAP7D2_uc011mjj.2_Silent_p.Q139Q|MAP7D2_uc004czs.1_Silent_p.Q95Q	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	139										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GCTCCAGCTGCTGTGTGCGCT	0.557													T	20074865	C	T	20074865	2	4	283	1	0	0	0	0	0	0	0	1	9268	796	28	3		3	MAP7D2	23	20074865	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08		20074865	135195695	57	19880											
BCOR	54880	broad.mit.edu	37	X	39933293	39933293	+	Missense_Mutation	SNP	C	C	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:39933293C>T	uc004den.4	-	3	1598	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	BCOR_uc004dep.4_Missense_Mutation_p.V436I|BCOR_uc004deo.4_Missense_Mutation_p.V436I|BCOR_uc004dem.4_Missense_Mutation_p.V436I|BCOR_uc004deq.4_Missense_Mutation_p.V436I	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	436					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTATCTGTGACGTCTTTGGTA	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39933293	C	T	39933293	3	4	283	1	0	0	0	0	1	0	0	0	1386	536	19	1	4009	1	BCOR	23	39933293	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	19858428	39933293	115337267	58	19881											
ZXDA	7789	broad.mit.edu	37	X	57935325	57935325	+	Silent	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:57935325G>A	uc004dve.3	-	0	1743	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	510	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F510F(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CAGGACACACGAAAGGCTTTG	0.552													A	57935325	G	A	57935325	2	1	283	1	0	0	0	0	0	0	0	1	18247	1049	37	2		2	ZXDA	23	57935325	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	18002032	57935325	97335235	59	19882											
MAGT1	84061	broad.mit.edu	37	X	77112989	77112989	+	Missense_Mutation	SNP	G	G	T			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:77112989G>T	uc004fof.3	-	3	554	c.492C>A	c.(490-492)aaC>aaA	p.N164K	MAGT1_uc004fog.4_Non-coding_Transcript	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	132					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGAATTCATGTTTAGCTGAA	0.368													T	77112989	G	T	77112989	3	4	283	1	0	0	0	0	1	0	0	0	9196	1368	48	5	639	5	MAGT1	23	77112989	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	19177664	77112989	78157571	60	19883											
RHOXF1	158800	broad.mit.edu	37	X	119243159	119243159	+	Silent	SNP	G	G	A	rs145568775		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:119243159G>A	uc004esk.1	-	2	621	c.546C>T	c.(544-546)gtC>gtT	p.V182V	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	182					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GCTAGTCCACGACGATGTAGA	0.507													A	119243159	G	A	119243159	2	1	283	1	0	0	0	0	0	0	0	1	13347	1045	37	2		2	RHOXF1	23	119243159	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	42130170	119243159	36027401	61	19884											
RAP2C	57826	broad.mit.edu	37	X	131348336	131348336	+	Missense_Mutation	SNP	A	A	C			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:131348336A>C	uc004ewp.3	-	2	1196	c.412T>G	c.(412-414)Tgg>Ggg	p.W138G	RAP2C_uc004ewo.3_Missense_Mutation_p.W72G|RAP2C_uc010nrk.3_Non-coding_Transcript|RAP2C_uc004ewq.4_Missense_Mutation_p.W138G	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	Homo sapiens RAP2C, member of RAS oncogene family (RAP2C), mRNA.	138					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GGACAGCCCCATTCTTGAGCC	0.438													C	131348336	A	C	131348336	3	2	283	1	0	0	0	0	1	0	0	0	13042	217	8	5	143	5	RAP2C	23	131348336	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	12105177	131348336	23922224	62	19885											
F9	2158	broad.mit.edu	37	X	138643011	138643011	+	Missense_Mutation	SNP	G	G	A	rs137852247		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:138643011G>A	uc004fas.1	+	6	864	c.835G>A	c.(835-837)Gca>Aca	p.A279T	F9_uc004fat.1_Missense_Mutation_p.A241T	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	279	Peptidase S1.		A -> T (in HEMB; mild).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TACAGTTGTCGCAGGTAAATA	0.353													A	138643011	G	A	138643011	3	1	283	1	0	0	0	0	1	0	0	0	5351	1087	38	1	861	1	F9	23	138643011	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	7294675	138643011	16627549	63	19886											
FATE1	89885	broad.mit.edu	37	X	150891145	150891145	+	Missense_Mutation	SNP	G	G	A			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:150891145G>A	uc004fex.3	+	4	550	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	156						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGAACAGGGCGCCACCTGGCG	0.652													A	150891145	G	A	150891145	3	1	283	1	0	0	0	0	1	0	0	0	5693	1087	38	1	484	1	FATE1	23	150891145	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	12248134	150891145	4379415	64	19887											
